Genetic Distance (cM)	Physical Distance (bp)	LOD score	Chr	Start	End	Ref	Alt	MutType	Func.Sum	cDNA_change	AA_change	AA_property_before_change	AA_property_after_change	Human_symbol	Mouse_symbol	Ensemble ID	Approved Name	Genomic Coordinate	Function Description	Human Disease	KO Mouse Phenotype	Pathway	Biological Process	Cellular Component	Molecular Function	GeneCards	UniprotKB	HPO	OMIM	MGI	PubMed	avsnp147	1000g_MAF	esp6500_MAF	exac03_MAF	noxious_ratio	pred_noxious	pred_covered	Func.refGene	Func.knownGene	Func.ensGene	Gene.refGene	Gene.knownGene	Gene.ensGene	ExonicFunc.refGene	ExonicFunc.knownGene	ExonicFunc.ensGene	AAChange.refGene	AAChange.knownGene	AAChange.ensGene	301_Female_Control	Quality;R|A_301_Female_Control	401_Male_Patient	Quality;R|A_401_Male_Patient
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100011077	100011077	T	A	snp	intronic	 	 	 	 	LOXL4	Loxl4	ENSG00000138131	lysyl oxidase like 4	chr10:100007447-100028007	This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]	brain aneurysm; Alzheimer's disease 	 	Crosslinking of collagen fibrils	GO:0006898;receptor-mediated endocytosis;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LOXL4	https://www.uniprot.org/uniprot/Q96JB6		https://www.ncbi.nlm.nih.gov/omim/?term=607318	http://www.informatics.jax.org/searchtool/Search.do?query=LOXL4&submit=Quick%0D%7680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL4	rs11189523	0.429113	0	0	1	0	0	intronic	intronic	intronic	LOXL4	LOXL4	ENSG00000138131	Na	Na	Na	Na	Na	Na	Het;T>A	56;4|3	Hom;T>A	382;0|13
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100017453	100017453	T	G	snp	nonsynonymous SNV	A1214C	D405A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	LOXL4	Loxl4	ENSG00000138131	lysyl oxidase like 4	chr10:100007447-100028007	This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]	brain aneurysm; Alzheimer's disease 	 	Crosslinking of collagen fibrils	GO:0006898;receptor-mediated endocytosis;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LOXL4	https://www.uniprot.org/uniprot/Q96JB6		https://www.ncbi.nlm.nih.gov/omim/?term=607318	http://www.informatics.jax.org/searchtool/Search.do?query=LOXL4&submit=Quick%0D%7680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL4	rs1983864	0.36222	0.2514	0.3737	0.77	10	13	exonic	exonic	exonic	LOXL4	LOXL4	ENSG00000138131	nonsynonymous SNV	nonsynonymous SNV	unknown	LOXL4:NM_032211:exon8:c.A1214C:p.D405A,	LOXL4:uc001kpa.1:exon8:c.A1214C:p.D405A,	UNKNOWN	Het;T>G	2271;91|97	Hom;T>G	3838;0|128
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100018844	100018844	G	A	snp	synonymous SNV	C843T	H281H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	LOXL4	Loxl4	ENSG00000138131	lysyl oxidase like 4	chr10:100007447-100028007	This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]	brain aneurysm; Alzheimer's disease 	 	Crosslinking of collagen fibrils	GO:0006898;receptor-mediated endocytosis;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LOXL4	https://www.uniprot.org/uniprot/Q96JB6		https://www.ncbi.nlm.nih.gov/omim/?term=607318	http://www.informatics.jax.org/searchtool/Search.do?query=LOXL4&submit=Quick%0D%7680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL4	rs7077073	0.501597	0.3678	0.5673	1	0	0	exonic	exonic	exonic	LOXL4	LOXL4	ENSG00000138131	synonymous SNV	synonymous SNV	unknown	LOXL4:NM_032211:exon6:c.C843T:p.H281H,	LOXL4:uc001kpa.1:exon6:c.C843T:p.H281H,	UNKNOWN	Het;G>A	220;29|15	Hom;G>A	909;0|34
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100144782	100144782	C	T	snp	nonsynonymous SNV	G1597A	A533T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs2296441	0.404553	0.3269	0.3710	0.31	4	13	exonic	exonic	exonic	PYROXD2	PYROXD2	ENSG00000119943	nonsynonymous SNV	nonsynonymous SNV	unknown	PYROXD2:NM_032709:exon15:c.G1597A:p.A533T,	PYROXD2:uc001kpc.3:exon15:c.G1597A:p.A533T,	UNKNOWN	Het;C>T	1038;68|52	Hom;C>T	2973;2|114
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100146895	100146895	T	C	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs2296438	0.521166	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;T>C	212;13|10	Hom;T>C	681;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100147060	100147060	A	G	snp	synonymous SNV	T1452C	F484F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs4345897	0.521166	0.4320	0.4406	1	0	0	exonic	exonic	exonic	PYROXD2	PYROXD2	ENSG00000119943	synonymous SNV	synonymous SNV	unknown	PYROXD2:NM_032709:exon14:c.T1452C:p.F484F,	PYROXD2:uc001kpc.3:exon14:c.T1452C:p.F484F,	UNKNOWN	Het;A>G	688;27|32	Hom;A>G	1455;0|55
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100147097	100147097	G	A	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs4400721	0.404353	0.3322	0.3674	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;G>A	400;25|21	Hom;G>A	1009;0|35
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100148058	100148058	T	C	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs4539242	0.599441	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;T>C	238;6|11	Hom;T>C	484;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100148176	100148176	A	G	snp	nonsynonymous SNV	T1382C	M461T	hydrophobic,neutral	polar,hydrophilic,neutral	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs2147896	0.599641	0.4966	0.4745	0.23	3	13	exonic	exonic	exonic	PYROXD2	PYROXD2	ENSG00000119943	nonsynonymous SNV	nonsynonymous SNV	unknown	PYROXD2:NM_032709:exon13:c.T1382C:p.M461T,	PYROXD2:uc001kpc.3:exon13:c.T1382C:p.M461T,	UNKNOWN	Het;A>G	469;65|29	Hom;A>G	2531;0|95
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100148308	100148308	T	G	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs2147895	0.514577	0.4177	0.4515	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;T>G	638;48|32	Hom;T>G	2628;0|95
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100148353	100148353	C	G	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs2182168	0.504792	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;C>G	313;33|17	Hom;C>G	1004;0|38
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100152373	100152373	T	G	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs6584192	0.510383	0.4213	0.4376	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;T>G	827;31|37	Hom;T>G	2203;2|81
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100156990	100156990	T	A	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs10883087	0.391973	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;T>A	265;6|9	Hom;T>A	126;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100157329	100157330	AC	A	indel	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs61159293	0.392372	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;-C	298;11|13	Hom;-C	151;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100157368	100157368	C	T	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs10786418	0.391973	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;C>T	186;4|9	Hom;C>T	122;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100167236	100167236	G	C	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs10883090	0.417133	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;G>C	324;2|8	Hom;G>C	197;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100167239	100167239	C	T	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs10883091	0.438099	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;C>T	345;2|10	Hom;C>T	232;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100167276	100167276	A	C	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs10883092	0.439696	0.3517	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;A>C	366;8|16	Hom;A>C	457;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100167322	100167322	C	T	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs11189595	0.252396	0.2044	0.2711	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;C>T	532;31|26	Hom;C>T	871;0|35
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100167860	100167860	G	C	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs942810	0.571086	0	0	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;G>C	210;9|8	Hom;G>C	360;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100170762	100170762	C	T	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs3814140	0.438698	0.3395	0.3906	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;C>T	502;21|26	Hom;C>T	255;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100174721	100174721	T	C	snp	intronic	 	 	 	 	PYROXD2	Pyroxd2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2	rs2147900	0.439896	0.3525	0.3438	1	0	0	intronic	intronic	intronic	PYROXD2	PYROXD2	ENSG00000119943	Na	Na	Na	Na	Na	Na	Het;T>C	632;18|24	Hom;T>C	642;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176104	100176104	A	G	snp	UTR3	*1217T>C	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs3830025	0.43131	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*1217T>C)	HPS1(uc021pwv.1:c.*1217T>C)	ENSG00000107521(ENST00000325103:c.*1217T>C,ENST00000361490:c.*1217T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1972;47|51	Hom;A>G	4056;0|90
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176106	100176106	G	A	snp	UTR3	*1215C>T	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs3830024	0.43131	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*1215C>T)	HPS1(uc021pwv.1:c.*1215C>T)	ENSG00000107521(ENST00000325103:c.*1215C>T,ENST00000361490:c.*1215C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1972;49|51	Hom;G>A	4056;0|91
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176154	100176154	C	T	snp	UTR3	*1167G>A	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1061437	0.430911	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*1167G>A)	HPS1(uc021pwv.1:c.*1167G>A)	ENSG00000107521(ENST00000325103:c.*1167G>A,ENST00000361490:c.*1167G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	987;60|46	Hom;C>T	2439;0|88
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176339	100176339	A	G	snp	UTR3	*982T>C	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1739	0.572284	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*982T>C)	HPS1(uc021pwv.1:c.*982T>C)	ENSG00000107521(ENST00000325103:c.*982T>C,ENST00000361490:c.*982T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	653;38|27	Hom;A>G	1862;0|62
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176366	100176366	T	C	snp	UTR3	*955A>G	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1737	0.572284	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*955A>G)	HPS1(uc021pwv.1:c.*955A>G)	ENSG00000107521(ENST00000325103:c.*955A>G,ENST00000361490:c.*955A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	363;38|17	Hom;T>C	1534;0|54
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176615	100176615	G	C	snp	UTR3	*706C>G	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs3830020	0.590455	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*706C>G)	HPS1(uc021pwv.1:c.*706C>G)	ENSG00000107521(ENST00000325103:c.*706C>G,ENST00000361490:c.*706C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	524;30|25	Hom;G>C	1297;0|48
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176869	100176869	C	T	snp	UTR3	*452G>A	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs701801	0.461462	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*452G>A)	HPS1(uc021pwv.1:c.*452G>A)	ENSG00000107521(ENST00000325103:c.*452G>A,ENST00000361490:c.*452G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	452;26|24	Hom;C>T	803;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100176997	100176997	A	G	snp	UTR3	*324T>C	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1061123	0.538938	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*324T>C)	HPS1(uc021pwv.1:c.*324T>C)	ENSG00000107521(ENST00000325103:c.*324T>C,ENST00000361490:c.*324T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	353;35|16	Hom;A>G	1334;0|53
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100177049	100177049	G	A	snp	UTR3	*272C>T	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1061115	0.526358	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_000195:c.*272C>T)	HPS1(uc021pwv.1:c.*272C>T)	ENSG00000107521(ENST00000325103:c.*272C>T,ENST00000361490:c.*272C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	160;20|9	Hom;G>A	736;0|28
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100182285	100182285	T	C	snp	intronic	 	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs2296435	0.257588	0.2059	0.2696	1	0	0	intronic	intronic	intronic	HPS1	HPS1	ENSG00000107521	Na	Na	Na	Na	Na	Na	Het;T>C	506;25|25	Hom;T>C	1163;0|44
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100184062	100184062	C	A	snp	intronic	 	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs2296433	0.255791	0.1708	0.2641	1	0	0	intronic	intronic	intronic	HPS1	HPS1	ENSG00000107521	Na	Na	Na	Na	Na	Na	Het;C>A	901;26|24	Hom;C>A	1401;0|32
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100184063	100184063	C	G	snp	intronic	 	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs2296432	0.255791	0.1714	0.2644	1	0	0	intronic	intronic	intronic	HPS1	HPS1	ENSG00000107521	Na	Na	Na	Na	Na	Na	Het;C>G	901;26|24	Hom;C>G	1401;0|32
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100189138	100189138	A	G	snp	UTR3	*154T>C	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1061135	0.555511	0	0	1	0	0	UTR3	UTR3	UTR3	HPS1(NM_182639:c.*154T>C)	HPS1(uc001kpl.3:c.*154T>C)	ENSG00000107521(ENST00000338546:c.*154T>C,ENST00000414009:c.*154T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	77;7|5	Hom;A>G	317;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100190264	100190264	T	C	snp	intronic	 	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs2296431	0.734026	0	0	1	0	0	intronic	intronic	intronic	HPS1	HPS1	ENSG00000107521	Na	Na	Na	Na	Na	Na	Het;T>C	282;10|12	Hom;T>C	461;0|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100190920	100190920	G	A	snp	synonymous SNV	C636T	L212L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1801287	0.282947	0.2389	0.3157	1	0	0	exonic	exonic	exonic	HPS1	HPS1	ENSG00000107521	synonymous SNV	synonymous SNV	unknown	HPS1:NM_000195:exon7:c.C636T:p.L212L,HPS1:NM_182639:exon7:c.C636T:p.L212L,	HPS1:uc010qph.1:exon7:c.C636T:p.L212L,HPS1:uc001kpl.3:exon7:c.C636T:p.L212L,HPS1:uc021pwv.1:exon7:c.C636T:p.L212L,	UNKNOWN	Het;G>A	530;42|28	Hom;G>A	1498;0|58
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100193679	100193679	G	C	snp	intronic	 	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1886728	0.693091	0	0	1	0	0	intronic	intronic	intronic	HPS1	HPS1	ENSG00000107521	Na	Na	Na	Na	Na	Na	Het;G>C	945;49|46	Hom;G>C	2914;0|103
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100205107	100205107	G	T	snp	UTR5	-2110C>A	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs1804689	0.319888	0	0	1	0	0	UTR5	UTR5	UTR5	HPS1(NM_000195:c.-2110C>A,NM_182639:c.-2110C>A)	HPS1(uc021pwv.1:c.-2110C>A,uc010qph.1:c.-2110C>A,uc001kpl.3:c.-2110C>A)	ENSG00000107521(ENST00000325103:c.-2110C>A,ENST00000361490:c.-2110C>A,ENST00000338546:c.-2110C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	362;22|20	Hom;G>T	808;0|32
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100213517	100213517	A	G	snp	intergenic	 	 	 	 	HPS1	Hps1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1	rs2281851	0.396765	0	0	1	0	0	intergenic	intergenic	intergenic	HPS1(dist=6813),HPSE2(dist=3317)	HPS1(dist=6813),HPSE2(dist=3317)	ENSG00000107521(dist=6834),ENSG00000172987(dist=5358)	Na	Na	Na	Na	Na	Na	Het;A>G	1139;53|50	Hom;A>G	3139;0|105
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100521730	100521730	T	C	snp	intronic	 	 	 	 	HPSE2	Hpse2	ENSG00000172987	heparanase 2 (inactive)	chr10:100218875-100995619	This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age.	HS-GAG degradation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE2		https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613469	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2	rs2489836	0.711062	0	0	1	0	0	intronic	intronic	intronic	HPSE2	HPSE2	ENSG00000172987	Na	Na	Na	Na	Na	Na	Het;T>C	179;1|5	Hom;T>C	197;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100521732	100521732	C	G	snp	intronic	 	 	 	 	HPSE2	Hpse2	ENSG00000172987	heparanase 2 (inactive)	chr10:100218875-100995619	This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age.	HS-GAG degradation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE2		https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613469	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2	rs11189805	0.579073	0	0	1	0	0	intronic	intronic	intronic	HPSE2	HPSE2	ENSG00000172987	Na	Na	Na	Na	Na	Na	Het;C>G	179;1|5	Hom;C>G	197;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100553934	100553934	A	G	snp	intronic	 	 	 	 	HPSE2	Hpse2	ENSG00000172987	heparanase 2 (inactive)	chr10:100218875-100995619	This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age.	HS-GAG degradation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE2		https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613469	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2	rs837728	0.848842	0	0	1	0	0	intronic	intronic	intronic	HPSE2	HPSE2	ENSG00000172987	Na	Na	Na	Na	Na	Na	Het;A>G	203;10|12	Hom;A>G	691;0|27
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	100734409	100734409	A	T	snp	intronic	 	 	 	 	HPSE2	Hpse2	ENSG00000172987	heparanase 2 (inactive)	chr10:100218875-100995619	This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age.	HS-GAG degradation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE2		https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613469	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2	rs2902256	0.455072	0	0	1	0	0	intronic	intronic	intronic	HPSE2	HPSE2	ENSG00000172987	Na	Na	Na	Na	Na	Na	Het;A>T	105;6|6	Hom;A>T	454;0|18
N	N	-	10	10103589	10103589	T	G	snp	ncRNA_intronic	 	 	 	 	BC032914																		rs11256473	0.272364	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101928298	BC032914	ENSG00000224788	Na	Na	Na	Na	Na	Na	Het;T>G	498;41|26	Hom;T>G	838;0|27
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101042213	101042213	T	C	snp	intergenic	 	 	 	 	HPSE2	Hpse2	ENSG00000172987	heparanase 2 (inactive)	chr10:100218875-100995619	This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age.	HS-GAG degradation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE2		https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613469	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2	rs4313503	0.459265	0	0	1	0	0	intergenic	intergenic	intergenic	HPSE2(dist=46581),CNNM1(dist=46643)	HPSE2(dist=46581),CNNM1(dist=46643)	ENSG00000172987(dist=46594),ENSG00000119946(dist=46643)	Na	Na	Na	Na	Na	Na	Het;T>C	530;19|27	Hom;T>C	806;2|30
N	N	-	10	10105358	10105358	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928298																		rs2657519	0.638379	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101928298	BC032914	ENSG00000224788	Na	Na	Na	Na	Na	Na	Het;T>C	569;43|28	Hom;T>C	1891;0|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101120787	101120787	C	T	snp	intronic	 	 	 	 	CNNM1	Cnnm1	ENSG00000119946	cyclin and CBS domain divalent metal cation transport mediator 1	chr10:101088856-101154087	This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Platelet Count; Alzheimer's disease ; Stroke; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNNM1	https://www.uniprot.org/uniprot/Q9NRU3		https://www.ncbi.nlm.nih.gov/omim/?term=607802	http://www.informatics.jax.org/searchtool/Search.do?query=CNNM1&submit=Quick%0D%5143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNNM1	rs3763792	0.422125	0	0	1	0	0	intronic	intronic	intronic	CNNM1	CNNM1	ENSG00000119946	Na	Na	Na	Na	Na	Na	Het;C>T	792;54|39	Hom;C>T	2518;0|88
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101152191	101152191	T	C	snp	UTR3	*918T>C	 	 	 	CNNM1	Cnnm1	ENSG00000119946	cyclin and CBS domain divalent metal cation transport mediator 1	chr10:101088856-101154087	This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Platelet Count; Alzheimer's disease ; Stroke; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNNM1	https://www.uniprot.org/uniprot/Q9NRU3		https://www.ncbi.nlm.nih.gov/omim/?term=607802	http://www.informatics.jax.org/searchtool/Search.do?query=CNNM1&submit=Quick%0D%5143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNNM1	rs11592057	0.215655	0	0	1	0	0	UTR3	UTR3	UTR3	CNNM1(NM_020348:c.*918T>C)	CNNM1(uc001kpp.4:c.*918T>C,uc010qpi.2:c.*918T>C,uc009xwf.3:c.*918T>C,uc009xwg.3:c.*918T>C)	ENSG00000119946(ENST00000356713:c.*918T>C,ENST00000370528:c.*918T>C,ENST00000446890:c.*918T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1408;91|69	Hom;T>C	4891;0|171
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101153590	101153590	A	T	snp	UTR3	*2317A>T	 	 	 	CNNM1	Cnnm1	ENSG00000119946	cyclin and CBS domain divalent metal cation transport mediator 1	chr10:101088856-101154087	This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Platelet Count; Alzheimer's disease ; Stroke; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNNM1	https://www.uniprot.org/uniprot/Q9NRU3		https://www.ncbi.nlm.nih.gov/omim/?term=607802	http://www.informatics.jax.org/searchtool/Search.do?query=CNNM1&submit=Quick%0D%5143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNNM1	rs7914408	0.824281	0	0	1	0	0	UTR3	UTR3	UTR3	CNNM1(NM_020348:c.*2317A>T)	CNNM1(uc001kpp.4:c.*2317A>T,uc010qpi.2:c.*2317A>T,uc009xwf.3:c.*2317A>T,uc009xwg.3:c.*2317A>T)	ENSG00000119946(ENST00000356713:c.*2317A>T,ENST00000370528:c.*2317A>T,ENST00000446890:c.*2317A>T)	Na	Na	Na	Na	Na	Na	Het;A>T	1149;98|58	Hom;A>T	3496;0|123
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101166544	101166544	C	T	snp	synonymous SNV	G363A	A121A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GOT1	Got1	ENSG00000120053	glutamic-oxaloacetic transaminase 1	chr10:101156627-101190381	Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively.  GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]	Heart Failure; Colitis, Ulcerative; Alcoholism; Crohn Disease	 	Amino acid synthesis and interconversion (transamination)	GO:0006094;gluconeogenesis;TAS|GO:0006103;2-oxoglutarate metabolic process;ISS|GO:0006107;oxaloacetate metabolic process;IEA|GO:0006114;glycerol biosynthetic process;ISS|GO:0006520;cellular amino acid metabolic process;IEA|GO:0006531;aspartate metabolic process;ISS|GO:0006532;aspartate biosynthetic process;IBA|GO:0006533;aspartate catabolic process;IDA|GO:0006536;glutamate metabolic process;ISS|GO:0007219;Notch signaling pathway;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009058;biosynthetic process;IEA|GO:0019550;glutamate catabolic process to aspartate;IEA|GO:0019551;glutamate catabolic process to 2-oxoglutarate;IEA|GO:0032869;cellular response to insulin stimulus;IEP|GO:0043648;dicarboxylic acid metabolic process;IEA|GO:0051384;response to glucocorticoid;IEP|GO:0055089;fatty acid homeostasis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;TAS|GO:0043679;axon terminus;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004069;L-aspartate:2-oxoglutarate aminotransferase activity;TAS|GO:0004609;phosphatidylserine decarboxylase activity;IEA|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0031406;carboxylic acid binding;IEA|GO:0047801;L-cysteine:2-oxoglutarate aminotransferase activity;IEA|GO:0080130;L-phenylalanine:2-oxoglutarate aminotransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GOT1	https://www.uniprot.org/uniprot/P17174		https://www.ncbi.nlm.nih.gov/omim/?term=138180	http://www.informatics.jax.org/searchtool/Search.do?query=GOT1&submit=Quick%0D%5156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOT1	rs2234971	0.117412	0.0994	0.1313	1	0	0	exonic	exonic	exonic	GOT1	GOT1	ENSG00000120053	synonymous SNV	synonymous SNV	unknown	GOT1:NM_002079:exon3:c.G363A:p.A121A,	GOT1:uc001kpr.3:exon3:c.G363A:p.A121A,	UNKNOWN	Het;C>T	845;74|46	Hom;C>T	2528;2|99
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101286154	101286154	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs12360459	0.258786	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;A>G	1175;48|55	Hom;A>G	2607;0|93
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101286207	101286207	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs7917446	0.602236	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;T>C	1004;32|45	Hom;T>C	2090;2|72
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101286480	101286480	A	G	snp	ncRNA_intronic	 	 	 	 	DQ372722																		rs6584281	0.582867	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;A>G	439;22|22	Hom;A>G	920;0|33
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101286495	101286495	A	G	snp	ncRNA_intronic	 	 	 	 	DQ372722																		rs6584282	0.551318	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;A>G	349;19|15	Hom;A>G	844;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287580	101287580	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs10883363	0.257987	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;C>T	1258;46|31	Hom;C>T	3376;0|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287586	101287586	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs10883364	0.257987	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;A>G	1386;46|36	Hom;A>G	3572;0|80
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287610	101287610	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs10786558	0.471446	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;G>A	1421;55|43	Hom;G>A	4044;0|97
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287681	101287681	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs11190136	0.258586	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;A>G	1327;70|61	Hom;A>G	3003;1|108
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287764	101287764	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs10883365	0.552915	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722,chromosome10openreadingframe139	ENSG00000228778,ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;G>A	3327;144|92	Hom;G>A	8375;1|194
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287785	101287785	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs10883366	0.569089	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722,chromosome10openreadingframe139	ENSG00000228778,ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;G>A	3490;145|99	Hom;G>A	8613;1|205
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287944	101287944	A	C	snp	ncRNA_exonic	 	 	 	 	AL513542.1																		rs11190137	0.258986	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	LINC01475	chromosome10openreadingframe139	ENSG00000228778	Na	Na	Na	Na	Na	Na	Het;A>C	591;26|24	Hom;A>C	1021;0|33
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101287990	101287990	T	C	snp	ncRNA_exonic	 	 	 	 	AL513542.1																		rs10883367	0.569089	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	LINC01475	chromosome10openreadingframe139	ENSG00000228778	Na	Na	Na	Na	Na	Na	Het;T>C	257;13|10	Hom;T>C	564;0|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101288347	101288347	C	A	snp	ncRNA_exonic	 	 	 	 	LINC01475																		rs7085798	0.56869	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01475	DQ372722	ENSG00000257582	Na	Na	Na	Na	Na	Na	Het;C>A	381;21|20	Hom;C>A	815;0|33
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101293035	101293035	C	A	snp	synonymous SNV	C147A	A49A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NKX2-3	Nkx2-3	ENSG00000119919	NK2 homeobox 3	chr10:101292690-101296278	This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]	Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn's, Ulcerative Colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease; Crohn Disease|Rectal Fistula; Crohn's disease; ulcerative colitis; Colonic Diseases|Crohn Disease|Ileal Diseases; Alzheimer's disease ; Crohn Disease|Crohn's disease; inflammatory bowel disease ; Colitis, Ulcerative	Homozygotes exhibit postnatal lethality due to acute intestinal malabsorption.  Survivors recover well but exhibit splenic and Peyer's patch hypoplasia, intestinal villus malformation, gut truncation and distension, abnormal molar and sublingual gland development, and deranged lymphocyte homing.		GO:0001776;leukocyte homeostasis;IEA|GO:0002317;plasma cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006955;immune response;IEA|GO:0008150;biological_process;ND|GO:0009791;post-embryonic development;IEA|GO:0022612;gland morphogenesis;IEA|GO:0030183;B cell differentiation;IEA|GO:0030225;macrophage differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043367;CD4-positive, alpha-beta T cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048535;lymph node development;IEA|GO:0048536;spleen development;IEA|GO:0048537;mucosal-associated lymphoid tissue development;IEA|GO:0048541;Peyer's patch development;IEA|GO:0048565;digestive tract development;IEA|GO:0048621;post-embryonic digestive tract morphogenesis;IEA|GO:0050900;leukocyte migration;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NKX2-3	https://www.uniprot.org/uniprot/Q8TAU0		https://www.ncbi.nlm.nih.gov/omim/?term=606727	http://www.informatics.jax.org/searchtool/Search.do?query=NKX2-3&submit=Quick%0D%5137ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX2-3	rs41290504	0.551318	0.5370	0.5375	1	0	0	exonic	exonic	exonic	NKX2-3	NKX2-3	ENSG00000119919	synonymous SNV	synonymous SNV	unknown	NKX2-3:NM_145285:exon1:c.C147A:p.A49A,	NKX2-3:uc009xwj.3:exon1:c.C147A:p.A49A,	UNKNOWN	Het;C>A	1364;49|58	Hom;C>A	2553;0|93
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101293318	101293318	G	A	snp	intronic	 	 	 	 	NKX2-3	Nkx2-3	ENSG00000119919	NK2 homeobox 3	chr10:101292690-101296278	This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]	Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn's, Ulcerative Colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease; Crohn Disease|Rectal Fistula; Crohn's disease; ulcerative colitis; Colonic Diseases|Crohn Disease|Ileal Diseases; Alzheimer's disease ; Crohn Disease|Crohn's disease; inflammatory bowel disease ; Colitis, Ulcerative	Homozygotes exhibit postnatal lethality due to acute intestinal malabsorption.  Survivors recover well but exhibit splenic and Peyer's patch hypoplasia, intestinal villus malformation, gut truncation and distension, abnormal molar and sublingual gland development, and deranged lymphocyte homing.		GO:0001776;leukocyte homeostasis;IEA|GO:0002317;plasma cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006955;immune response;IEA|GO:0008150;biological_process;ND|GO:0009791;post-embryonic development;IEA|GO:0022612;gland morphogenesis;IEA|GO:0030183;B cell differentiation;IEA|GO:0030225;macrophage differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043367;CD4-positive, alpha-beta T cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048535;lymph node development;IEA|GO:0048536;spleen development;IEA|GO:0048537;mucosal-associated lymphoid tissue development;IEA|GO:0048541;Peyer's patch development;IEA|GO:0048565;digestive tract development;IEA|GO:0048621;post-embryonic digestive tract morphogenesis;IEA|GO:0050900;leukocyte migration;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NKX2-3	https://www.uniprot.org/uniprot/Q8TAU0		https://www.ncbi.nlm.nih.gov/omim/?term=606727	http://www.informatics.jax.org/searchtool/Search.do?query=NKX2-3&submit=Quick%0D%5137ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX2-3	rs7908704	0.552117	0	0	1	0	0	intronic	intronic	intronic	NKX2-3	NKX2-3	ENSG00000119919	Na	Na	Na	Na	Na	Na	Het;G>A	358;18|18	Hom;G>A	961;0|34
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101293341	101293341	T	C	snp	intronic	 	 	 	 	NKX2-3	Nkx2-3	ENSG00000119919	NK2 homeobox 3	chr10:101292690-101296278	This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]	Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn's, Ulcerative Colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease; Crohn Disease|Rectal Fistula; Crohn's disease; ulcerative colitis; Colonic Diseases|Crohn Disease|Ileal Diseases; Alzheimer's disease ; Crohn Disease|Crohn's disease; inflammatory bowel disease ; Colitis, Ulcerative	Homozygotes exhibit postnatal lethality due to acute intestinal malabsorption.  Survivors recover well but exhibit splenic and Peyer's patch hypoplasia, intestinal villus malformation, gut truncation and distension, abnormal molar and sublingual gland development, and deranged lymphocyte homing.		GO:0001776;leukocyte homeostasis;IEA|GO:0002317;plasma cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006955;immune response;IEA|GO:0008150;biological_process;ND|GO:0009791;post-embryonic development;IEA|GO:0022612;gland morphogenesis;IEA|GO:0030183;B cell differentiation;IEA|GO:0030225;macrophage differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043367;CD4-positive, alpha-beta T cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048535;lymph node development;IEA|GO:0048536;spleen development;IEA|GO:0048537;mucosal-associated lymphoid tissue development;IEA|GO:0048541;Peyer's patch development;IEA|GO:0048565;digestive tract development;IEA|GO:0048621;post-embryonic digestive tract morphogenesis;IEA|GO:0050900;leukocyte migration;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NKX2-3	https://www.uniprot.org/uniprot/Q8TAU0		https://www.ncbi.nlm.nih.gov/omim/?term=606727	http://www.informatics.jax.org/searchtool/Search.do?query=NKX2-3&submit=Quick%0D%5137ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX2-3	rs7893840	0.552117	0	0	1	0	0	intronic	intronic	intronic	NKX2-3	NKX2-3	ENSG00000119919	Na	Na	Na	Na	Na	Na	Het;T>C	208;12|10	Hom;T>C	676;0|22
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101358685	101358685	T	A	snp	intergenic	 	 	 	 	NKX2-3	Nkx2-3	ENSG00000119919	NK2 homeobox 3	chr10:101292690-101296278	This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]	Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn's, Ulcerative Colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease; Crohn Disease|Rectal Fistula; Crohn's disease; ulcerative colitis; Colonic Diseases|Crohn Disease|Ileal Diseases; Alzheimer's disease ; Crohn Disease|Crohn's disease; inflammatory bowel disease ; Colitis, Ulcerative	Homozygotes exhibit postnatal lethality due to acute intestinal malabsorption.  Survivors recover well but exhibit splenic and Peyer's patch hypoplasia, intestinal villus malformation, gut truncation and distension, abnormal molar and sublingual gland development, and deranged lymphocyte homing.		GO:0001776;leukocyte homeostasis;IEA|GO:0002317;plasma cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006955;immune response;IEA|GO:0008150;biological_process;ND|GO:0009791;post-embryonic development;IEA|GO:0022612;gland morphogenesis;IEA|GO:0030183;B cell differentiation;IEA|GO:0030225;macrophage differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043367;CD4-positive, alpha-beta T cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048535;lymph node development;IEA|GO:0048536;spleen development;IEA|GO:0048537;mucosal-associated lymphoid tissue development;IEA|GO:0048541;Peyer's patch development;IEA|GO:0048565;digestive tract development;IEA|GO:0048621;post-embryonic digestive tract morphogenesis;IEA|GO:0050900;leukocyte migration;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NKX2-3	https://www.uniprot.org/uniprot/Q8TAU0		https://www.ncbi.nlm.nih.gov/omim/?term=606727	http://www.informatics.jax.org/searchtool/Search.do?query=NKX2-3&submit=Quick%0D%5137ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX2-3	rs12779255	0.318291	0	0	1	0	0	intergenic	intergenic	intergenic	NKX2-3(dist=62405),SLC25A28(dist=11590)	NKX2-3(dist=62405),SLC25A28(dist=11590)	ENSG00000119919(dist=62407),ENSG00000238588(dist=2852)	Na	Na	Na	Na	Na	Na	Het;T>A	406;11|21	Hom;T>A	818;0|30
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101373729	101373729	C	T	snp	intronic	 	 	 	 	SLC25A28	Slc25a28	ENSG00000155287	solute carrier family 25 member 28	chr10:101370282-101380366		Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease 	 	Mitochondrial iron-sulfur cluster biogenesis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034755;iron ion transmembrane transport;IEA|GO:0048250;mitochondrial iron ion transport;IBA|GO:0055072;iron ion homeostasis;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005381;iron ion transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A28	https://www.uniprot.org/uniprot/Q96A46		https://www.ncbi.nlm.nih.gov/omim/?term=609767	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A28&submit=Quick%0D%9856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A28	rs17494319	0.16234	0.1678	0.2399	1	0	0	intronic	intronic	intronic	SLC25A28	SLC25A28	ENSG00000155287	Na	Na	Na	Na	Na	Na	Het;C>T	489;23|24	Hom;C>T	697;0|25
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101590619	101590619	C	T	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs41318031	0.0313498	0.0504	0.0357	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;C>T	806;43|40	Hom;C>T	1147;0|43
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101595996	101595996	T	A	snp	nonsynonymous SNV	T3563A	V1188E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs17222723	0.0373403	0.0610	0.0430	0.08	1	13	exonic	exonic	exonic	ABCC2	ABCC2	ENSG00000023839	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCC2:NM_000392:exon25:c.T3563A:p.V1188E,	ABCC2:uc001kqf.2:exon25:c.T3563A:p.V1188E,	UNKNOWN	Het;T>A	1000;41|48	Hom;T>A	1706;0|60
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101603522	101603522	T	C	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs17216177	0.0722843	0.0984	0.0537	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;T>C	787;20|33	Hom;T>C	1335;2|48
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101604006	101604006	A	G	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs34456559	0.038139	0	0	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;A>G	190;10|10	Hom;A>G	164;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101604243	101604243	C	T	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs17216310	0.00379393	0.0055	0.0047	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;C>T	622;26|28	Hom;C>T	1503;1|59
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101605550	101605550	G	C	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs17216282	0.038139	0.0614	0.0548	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;G>C	618;32|30	Hom;G>C	1697;0|60
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101606861	101606861	G	T	snp	synonymous SNV	G4290T	V1430V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs1137968	0.038139	0.0615	0.0434	1	0	0	exonic	exonic	exonic	ABCC2	ABCC2	ENSG00000023839	synonymous SNV	synonymous SNV	unknown	ABCC2:NM_000392:exon30:c.G4290T:p.V1430V,	ABCC2:uc001kqf.2:exon30:c.G4290T:p.V1430V,	UNKNOWN	Het;G>T	433;32|23	Hom;G>T	937;0|37
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101610533	101610533	C	T	snp	synonymous SNV	C4488T	H1496H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs8187707	0.0309505	0.0532	0.0409	1	0	0	exonic	exonic	exonic	ABCC2	ABCC2	ENSG00000023839	synonymous SNV	synonymous SNV	unknown	ABCC2:NM_000392:exon31:c.C4488T:p.H1496H,	ABCC2:uc001kqf.2:exon31:c.C4488T:p.H1496H,	UNKNOWN	Het;C>T	1613;78|82	Hom;C>T	4389;1|170
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101610565	101610565	G	A	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs17216212	0.038139	0.0610	0.0433	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;G>A	1375;63|65	Hom;G>A	3007;0|111
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101610627	101610627	C	T	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs77106298	0.0167732	0	0	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;C>T	695;28|31	Hom;C>T	1182;0|42
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101610723	101610723	A	G	snp	intronic	 	 	 	 	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs3740063	0.359824	0	0	1	0	0	intronic	intronic	intronic	ABCC2	ABCC2	ENSG00000023839	Na	Na	Na	Na	Na	Na	Het;A>G	107;6|4	Hom;A>G	181;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101611294	101611294	G	A	snp	nonsynonymous SNV	G4544A	C1515Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	ABCC2	Abcc2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2	rs8187710	0.0678914	0.0942	0.0524	0.08	1	13	exonic	exonic	exonic	ABCC2	ABCC2	ENSG00000023839	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCC2:NM_000392:exon32:c.G4544A:p.C1515Y,	ABCC2:uc001kqf.2:exon32:c.G4544A:p.C1515Y,	UNKNOWN	Het;G>A	662;84|41	Hom;G>A	3098;1|119
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101639796	101639796	G	A	snp	synonymous SNV	C1128T	S376S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DNMBP	Dnmbp	ENSG00000107554	dynamin binding protein	chr10:101635334-101769676	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease; Alzheimer's disease 	 		GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNMBP	https://www.uniprot.org/uniprot/Q6XZF7		https://www.ncbi.nlm.nih.gov/omim/?term=611282	http://www.informatics.jax.org/searchtool/Search.do?query=DNMBP&submit=Quick%0D%3614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMBP	rs2255901	0.464457	0.5274	0.4878	1	0	0	exonic	exonic	exonic	DNMBP	DNMBP	ENSG00000107554	synonymous SNV	synonymous SNV	unknown	DNMBP:NM_015221:exon16:c.C4320T:p.S1440S,	DNMBP:uc010qpl.1:exon8:c.C1128T:p.S376S,DNMBP:uc001kqh.2:exon13:c.C3216T:p.S1072S,DNMBP:uc001kqg.2:exon13:c.C2184T:p.S728S,DNMBP:uc001kqj.2:exon16:c.C4320T:p.S1440S,	UNKNOWN	Het;G>A	2182;88|96	Hom;G>A	3791;0|138
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101645498	101645498	T	C	snp	synonymous SNV	A552G	P184P	hydrophobic,neutral	hydrophobic,neutral	DNMBP	Dnmbp	ENSG00000107554	dynamin binding protein	chr10:101635334-101769676	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease; Alzheimer's disease 	 		GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNMBP	https://www.uniprot.org/uniprot/Q6XZF7		https://www.ncbi.nlm.nih.gov/omim/?term=611282	http://www.informatics.jax.org/searchtool/Search.do?query=DNMBP&submit=Quick%0D%3614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMBP	rs2490763	0.478634	0.5437	0.5647	1	0	0	exonic	exonic	exonic	DNMBP	DNMBP	ENSG00000107554	synonymous SNV	synonymous SNV	unknown	DNMBP:NM_015221:exon14:c.A3744G:p.P1248P,	DNMBP:uc010qpl.1:exon6:c.A552G:p.P184P,DNMBP:uc001kqh.2:exon11:c.A2640G:p.P880P,DNMBP:uc001kqg.2:exon11:c.A1608G:p.P536P,DNMBP:uc001kqj.2:exon14:c.A3744G:p.P1248P,	UNKNOWN	Het;T>C	340;33|18	Hom;T>C	1469;0|52
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101654696	101654696	T	C	snp	intronic	 	 	 	 	DNMBP	Dnmbp	ENSG00000107554	dynamin binding protein	chr10:101635334-101769676	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease; Alzheimer's disease 	 		GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNMBP	https://www.uniprot.org/uniprot/Q6XZF7		https://www.ncbi.nlm.nih.gov/omim/?term=611282	http://www.informatics.jax.org/searchtool/Search.do?query=DNMBP&submit=Quick%0D%3614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMBP	rs3758394	0.45607	0.5426	0.5187	1	0	0	intronic	intronic	intronic	DNMBP	DNMBP	ENSG00000107554	Na	Na	Na	Na	Na	Na	Het;T>C	752;60|41	Hom;T>C	2080;2|81
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101654924	101654924	T	C	snp	intronic	 	 	 	 	DNMBP	Dnmbp	ENSG00000107554	dynamin binding protein	chr10:101635334-101769676	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease; Alzheimer's disease 	 		GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNMBP	https://www.uniprot.org/uniprot/Q6XZF7		https://www.ncbi.nlm.nih.gov/omim/?term=611282	http://www.informatics.jax.org/searchtool/Search.do?query=DNMBP&submit=Quick%0D%3614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMBP	rs11190307	0.473043	0	0	1	0	0	intronic	intronic	intronic	DNMBP	DNMBP	ENSG00000107554	Na	Na	Na	Na	Na	Na	Het;T>C	113;2|4	Hom;T>C	147;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101687950	101687950	T	C	snp	ncRNA_exonic	 	 	 	 	DNMBP-AS1																		rs72840109	0.0521166	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DNMBP-AS1	DNMBP-AS1	ENSG00000227695	Na	Na	Na	Na	Na	Na	Het;T>C	1019;55|50	Hom;T>C	2697;2|100
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101689378	101689378	G	C	snp	nonsynonymous SNV	C1143G	S381R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	DNMBP	Dnmbp	ENSG00000107554	dynamin binding protein	chr10:101635334-101769676	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease; Alzheimer's disease 	 		GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNMBP	https://www.uniprot.org/uniprot/Q6XZF7		https://www.ncbi.nlm.nih.gov/omim/?term=611282	http://www.informatics.jax.org/searchtool/Search.do?query=DNMBP&submit=Quick%0D%3614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMBP	rs7077718	0.486821	0	0.5782	1	0	0	ncRNA_intronic	exonic	ncRNA_intronic	DNMBP-AS1	DNMBP	ENSG00000227695	Na	nonsynonymous SNV	Na	Na	DNMBP:uc001kqh.2:exon1:c.C1143G:p.S381R,	Na	Het;G>C	318;28|18	Hom;G>C	1624;0|61
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101823543	101823543	T	C	snp	intronic	 	 	 	 	CPN1	Cpn1	ENSG00000120054	carboxypeptidase N subunit 1	chr10:101801950-101841634	Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]	Fatty Liver|Metabolic Syndrome X; plasma levels of liver enzymes; liver enzymes; Alzheimer's disease ; Iron; Alkaline Phosphatase	Mice homozygous for a knock-out allele are highly susceptible to lethal anaphylactic shock caused by acute complement activation when administered cobra venom factor or C5a complement.	Regulation of Complement cascade	GO:0006508;proteolysis;IEA|GO:0010815;bradykinin catabolic process;IEA|GO:0030070;insulin processing;IBA|GO:0030449;regulation of complement activation;TAS|GO:0051384;response to glucocorticoid;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005794;Golgi apparatus;IBA|GO:0030141;secretory granule;IBA|GO:0043025;neuronal cell body;IBA|GO:0097060;synaptic membrane;IBA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPN1	https://www.uniprot.org/uniprot/P15169	https://hpo.jax.org/app/browse/search?q=CPN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603103	http://www.informatics.jax.org/searchtool/Search.do?query=CPN1&submit=Quick%0D%5157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN1	rs4462272	0.210663	0	0	1	0	0	intronic	intronic	intronic	CPN1	CPN1	ENSG00000120054	Na	Na	Na	Na	Na	Na	Het;T>C	854;38|38	Hom;T>C	1906;2|64
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101825160	101825160	C	G	snp	intronic	 	 	 	 	CPN1	Cpn1	ENSG00000120054	carboxypeptidase N subunit 1	chr10:101801950-101841634	Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]	Fatty Liver|Metabolic Syndrome X; plasma levels of liver enzymes; liver enzymes; Alzheimer's disease ; Iron; Alkaline Phosphatase	Mice homozygous for a knock-out allele are highly susceptible to lethal anaphylactic shock caused by acute complement activation when administered cobra venom factor or C5a complement.	Regulation of Complement cascade	GO:0006508;proteolysis;IEA|GO:0010815;bradykinin catabolic process;IEA|GO:0030070;insulin processing;IBA|GO:0030449;regulation of complement activation;TAS|GO:0051384;response to glucocorticoid;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005794;Golgi apparatus;IBA|GO:0030141;secretory granule;IBA|GO:0043025;neuronal cell body;IBA|GO:0097060;synaptic membrane;IBA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPN1	https://www.uniprot.org/uniprot/P15169	https://hpo.jax.org/app/browse/search?q=CPN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603103	http://www.informatics.jax.org/searchtool/Search.do?query=CPN1&submit=Quick%0D%5157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN1	rs3829161	0.381789	0.4649	0.4169	1	0	0	intronic	intronic	intronic	CPN1	CPN1	ENSG00000120054	Na	Na	Na	Na	Na	Na	Het;C>G	450;13|16	Hom;C>G	999;0|34
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101874829	101874829	C	T	snp	ncRNA_exonic	 	 	 	 	TPM4P1																		rs12780023	0.295527	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CPN1(dist=33187),ERLIN1(dist=35018)	CPN1(dist=33187),ERLIN1(dist=35018)	ENSG00000232230	Na	Na	Na	Na	Na	Na	Het;C>T	120;3|4	Hom;C>T	197;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101874844	101874844	C	T	snp	ncRNA_exonic	 	 	 	 	TPM4P1																		rs12780035	0.172524	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CPN1(dist=33202),ERLIN1(dist=35003)	CPN1(dist=33202),ERLIN1(dist=35003)	ENSG00000232230	Na	Na	Na	Na	Na	Na	Het;C>T	120;3|4	Hom;C>T	197;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101910013	101910014	TG	T	indel	UTR3	*1875_*1874delinsA	 	 	 	ERLIN1	Erlin1	ENSG00000107566	ER lipid raft associated 1	chr10:101909851-101948091		Tobacco Use Disorder; plasma levels of liver enzymes; liver enzymes	 	Defective CFTR causes cystic fibrosis	GO:0006629;lipid metabolic process;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0032933;SREBP signaling pathway;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IMP|GO:0045717;negative regulation of fatty acid biosynthetic process;IMP|GO:0055085;transmembrane transport;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0031625;ubiquitin protein ligase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERLIN1	https://www.uniprot.org/uniprot/O75477	https://hpo.jax.org/app/browse/search?q=ERLIN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611604	http://www.informatics.jax.org/searchtool/Search.do?query=ERLIN1&submit=Quick%0D%3617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERLIN1	rs11308859	0.528355	0	0	1	0	0	UTR3	UTR3	UTR3	ERLIN1(NM_006459:c.*1875_*1874delinsA,NM_001100626:c.*1875_*1874delinsA)	ERLIN1(uc001kqn.4:c.*1875_*1874delinsA,uc001kqo.4:c.*1875_*1874delinsA,uc010qpm.2:c.*1875_*1874delinsA)	ENSG00000107566(ENST00000421367:c.*1875_*1874delinsA)	Na	Na	Na	Na	Na	Na	Het;-G	2452;79|83	Hom;-G	6947;0|196
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101912064	101912064	T	C	snp	nonsynonymous SNV	A871G	I291V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ERLIN1	Erlin1	ENSG00000107566	ER lipid raft associated 1	chr10:101909851-101948091		Tobacco Use Disorder; plasma levels of liver enzymes; liver enzymes	 	Defective CFTR causes cystic fibrosis	GO:0006629;lipid metabolic process;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0032933;SREBP signaling pathway;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IMP|GO:0045717;negative regulation of fatty acid biosynthetic process;IMP|GO:0055085;transmembrane transport;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0031625;ubiquitin protein ligase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERLIN1	https://www.uniprot.org/uniprot/O75477	https://hpo.jax.org/app/browse/search?q=ERLIN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611604	http://www.informatics.jax.org/searchtool/Search.do?query=ERLIN1&submit=Quick%0D%3617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERLIN1	rs2862954	0.1877	0.3463	0.3324	0.25	3	12	exonic	exonic	exonic	ERLIN1	ERLIN1	ENSG00000107566	nonsynonymous SNV	nonsynonymous SNV	unknown	ERLIN1:NM_001100626:exon12:c.A871G:p.I291V,ERLIN1:NM_006459:exon11:c.A871G:p.I291V,	ERLIN1:uc010qpm.2:exon11:c.A619G:p.I207V,ERLIN1:uc001kqo.4:exon12:c.A871G:p.I291V,ERLIN1:uc001kqn.4:exon11:c.A871G:p.I291V,	UNKNOWN	Het;T>C	1251;49|61	Hom;T>C	3062;0|115
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101912194	101912194	C	T	snp	intronic	 	 	 	 	ERLIN1	Erlin1	ENSG00000107566	ER lipid raft associated 1	chr10:101909851-101948091		Tobacco Use Disorder; plasma levels of liver enzymes; liver enzymes	 	Defective CFTR causes cystic fibrosis	GO:0006629;lipid metabolic process;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0032933;SREBP signaling pathway;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IMP|GO:0045717;negative regulation of fatty acid biosynthetic process;IMP|GO:0055085;transmembrane transport;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0031625;ubiquitin protein ligase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERLIN1	https://www.uniprot.org/uniprot/O75477	https://hpo.jax.org/app/browse/search?q=ERLIN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611604	http://www.informatics.jax.org/searchtool/Search.do?query=ERLIN1&submit=Quick%0D%3617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERLIN1	rs1408579	0.188099	0	0	1	0	0	intronic	intronic	intronic	ERLIN1	ERLIN1	ENSG00000107566	Na	Na	Na	Na	Na	Na	Het;C>T	46;9|3	Hom;C>T	275;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101953705	101953705	A	C	snp	intronic	 	 	 	 	CHUK	Chuk	ENSG00000213341	conserved helix-loop-helix ubiquitous kinase	chr10:101948055-101989376	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Lymphoma, Non-Hodgkin; Cleft Lip|Cleft Palate; benzene haematotoxicity; Fatty Liver; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hodgkin Disease; HIV; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Sjogren's Syndrome; Hepatitis C|Remission, Spontaneous; plasma levels of liver enzymes; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; liver enzymes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; atherosclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hypertension; breast cancer; respiratory syncytial virus bronchiolitis; Alzheimer's disease ; Multiple Myeloma; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.	IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0003009;skeletal muscle contraction;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;TAS|GO:0007266;Rho protein signal transduction;IEA|GO:0009615;response to virus;TAS|GO:0009636;response to toxic substance;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0010033;response to organic substance;IEA|GO:0010034;response to acetate;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IBA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043200;response to amino acid;IEA|GO:0045087;innate immune response;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0051146;striated muscle cell differentiation;IEA|GO:0051403;stress-activated MAPK cascade;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0071276;cellular response to cadmium ion;IMP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0098586;cellular response to virus;IMP|GO:1902741;positive regulation of interferon-alpha secretion;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008385;IkappaB kinase complex;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0097110;scaffold protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHUK		https://hpo.jax.org/app/browse/search?q=CHUK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600664	http://www.informatics.jax.org/searchtool/Search.do?query=CHUK&submit=Quick%0D%18114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHUK	rs11597086	0.171925	0.3062	0.2985	1	0	0	intronic	intronic	intronic	CHUK	CHUK	ENSG00000213341	Na	Na	Na	Na	Na	Na	Het;A>C	581;33|29	Hom;A>C	1485;0|53
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101964312	101964312	G	A	snp	synonymous SNV	C1458T	S486S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CHUK	Chuk	ENSG00000213341	conserved helix-loop-helix ubiquitous kinase	chr10:101948055-101989376	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Lymphoma, Non-Hodgkin; Cleft Lip|Cleft Palate; benzene haematotoxicity; Fatty Liver; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hodgkin Disease; HIV; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Sjogren's Syndrome; Hepatitis C|Remission, Spontaneous; plasma levels of liver enzymes; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; liver enzymes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; atherosclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hypertension; breast cancer; respiratory syncytial virus bronchiolitis; Alzheimer's disease ; Multiple Myeloma; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.	IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0003009;skeletal muscle contraction;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;TAS|GO:0007266;Rho protein signal transduction;IEA|GO:0009615;response to virus;TAS|GO:0009636;response to toxic substance;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0010033;response to organic substance;IEA|GO:0010034;response to acetate;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IBA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043200;response to amino acid;IEA|GO:0045087;innate immune response;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0051146;striated muscle cell differentiation;IEA|GO:0051403;stress-activated MAPK cascade;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0071276;cellular response to cadmium ion;IMP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0098586;cellular response to virus;IMP|GO:1902741;positive regulation of interferon-alpha secretion;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008385;IkappaB kinase complex;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0097110;scaffold protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHUK		https://hpo.jax.org/app/browse/search?q=CHUK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600664	http://www.informatics.jax.org/searchtool/Search.do?query=CHUK&submit=Quick%0D%18114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHUK	rs17880383	0.0265575	0.0441	0.0399	1	0	0	exonic	exonic	exonic	CHUK	CHUK	ENSG00000213341	synonymous SNV	synonymous SNV	unknown	CHUK:NM_001278:exon13:c.C1458T:p.S486S,	CHUK:uc001kqp.3:exon13:c.C1458T:p.S486S,	UNKNOWN	Het;G>A	578;45|30	Hom;G>A	1589;0|60
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101967212	101967212	C	G	snp	intronic	 	 	 	 	CHUK	Chuk	ENSG00000213341	conserved helix-loop-helix ubiquitous kinase	chr10:101948055-101989376	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Lymphoma, Non-Hodgkin; Cleft Lip|Cleft Palate; benzene haematotoxicity; Fatty Liver; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hodgkin Disease; HIV; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Sjogren's Syndrome; Hepatitis C|Remission, Spontaneous; plasma levels of liver enzymes; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; liver enzymes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; atherosclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hypertension; breast cancer; respiratory syncytial virus bronchiolitis; Alzheimer's disease ; Multiple Myeloma; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.	IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0003009;skeletal muscle contraction;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;TAS|GO:0007266;Rho protein signal transduction;IEA|GO:0009615;response to virus;TAS|GO:0009636;response to toxic substance;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0010033;response to organic substance;IEA|GO:0010034;response to acetate;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IBA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043200;response to amino acid;IEA|GO:0045087;innate immune response;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0051146;striated muscle cell differentiation;IEA|GO:0051403;stress-activated MAPK cascade;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0071276;cellular response to cadmium ion;IMP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0098586;cellular response to virus;IMP|GO:1902741;positive regulation of interferon-alpha secretion;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008385;IkappaB kinase complex;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0097110;scaffold protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHUK		https://hpo.jax.org/app/browse/search?q=CHUK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600664	http://www.informatics.jax.org/searchtool/Search.do?query=CHUK&submit=Quick%0D%18114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHUK	rs7909855	0.535942	0	0	1	0	0	intronic	intronic	intronic	CHUK	CHUK	ENSG00000213341	Na	Na	Na	Na	Na	Na	Het;C>G	44;2|3	Hom;C>G	180;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	101977883	101977883	C	T	snp	nonsynonymous SNV	G802A	V268I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CHUK	Chuk	ENSG00000213341	conserved helix-loop-helix ubiquitous kinase	chr10:101948055-101989376	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Lymphoma, Non-Hodgkin; Cleft Lip|Cleft Palate; benzene haematotoxicity; Fatty Liver; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hodgkin Disease; HIV; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Sjogren's Syndrome; Hepatitis C|Remission, Spontaneous; plasma levels of liver enzymes; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; liver enzymes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; atherosclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hypertension; breast cancer; respiratory syncytial virus bronchiolitis; Alzheimer's disease ; Multiple Myeloma; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.	IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0003009;skeletal muscle contraction;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;TAS|GO:0007266;Rho protein signal transduction;IEA|GO:0009615;response to virus;TAS|GO:0009636;response to toxic substance;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0010033;response to organic substance;IEA|GO:0010034;response to acetate;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IBA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043200;response to amino acid;IEA|GO:0045087;innate immune response;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0051146;striated muscle cell differentiation;IEA|GO:0051403;stress-activated MAPK cascade;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0071276;cellular response to cadmium ion;IMP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0098586;cellular response to virus;IMP|GO:1902741;positive regulation of interferon-alpha secretion;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008385;IkappaB kinase complex;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0097110;scaffold protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHUK		https://hpo.jax.org/app/browse/search?q=CHUK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600664	http://www.informatics.jax.org/searchtool/Search.do?query=CHUK&submit=Quick%0D%18114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHUK	rs2230804	0.545727	0.5830	0.4791	0.15	2	13	exonic	exonic	exonic	CHUK	CHUK	ENSG00000213341	nonsynonymous SNV	nonsynonymous SNV	unknown	CHUK:NM_001278:exon9:c.G802A:p.V268I,	CHUK:uc001kqp.3:exon9:c.G802A:p.V268I,	UNKNOWN	Het;C>T	703;28|34	Hom;C>T	1483;2|53
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102016268	102016268	G	A	snp	intronic	 	 	 	 	CWF19L1	Cwf19l1	ENSG00000095485	CWF19 like 1, cell cycle control (S. pombe)	chr10:101992055-102027437	This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	benzene haematotoxicity; Alzheimer's disease ; Depressive Disorder, Major	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CWF19L1	https://www.uniprot.org/uniprot/Q69YN2	https://hpo.jax.org/app/browse/search?q=CWF19L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616120	http://www.informatics.jax.org/searchtool/Search.do?query=CWF19L1&submit=Quick%0D%2248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CWF19L1	rs2270961	0.538738	0.5743	0.4779	1	0	0	intronic	intronic	intronic	CWF19L1	CWF19L1	ENSG00000095485	Na	Na	Na	Na	Na	Na	Het;G>A	363;31|21	Hom;G>A	1476;0|55
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102027407	102027407	C	T	snp	UTR5	-57G>A	 	 	 	CWF19L1	Cwf19l1	ENSG00000095485	CWF19 like 1, cell cycle control (S. pombe)	chr10:101992055-102027437	This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	benzene haematotoxicity; Alzheimer's disease ; Depressive Disorder, Major	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CWF19L1	https://www.uniprot.org/uniprot/Q69YN2	https://hpo.jax.org/app/browse/search?q=CWF19L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616120	http://www.informatics.jax.org/searchtool/Search.do?query=CWF19L1&submit=Quick%0D%2248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CWF19L1	rs12784396	0.177316	0.3300	0	1	0	0	UTR5	UTR5	UTR5	CWF19L1(NM_001303407:c.-20742G>A,NM_001303405:c.-11296G>A,NM_001303404:c.-57G>A,NM_018294:c.-57G>A,NM_001303406:c.-11296G>A)	CWF19L1(uc001kqq.1:c.-57G>A,uc001kqs.1:c.-20751G>A,uc001kqr.1:c.-57G>A,uc001kqt.1:c.-21771G>A,uc010qpn.1:c.-11296G>A)	ENSG00000095485(ENST00000354105:c.-57G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	612;9|29	Hom;C>T	804;2|34
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102107251	102107251	C	G	snp	UTR5	-11C>G	 	 	 	SCD	Scd1	ENSG00000099194	stearoyl-CoA desaturase	chr10:102106881-102124591	This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]	plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females.	Fatty acyl-CoA biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005730;nucleolus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0004768;stearoyl-CoA 9-desaturase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCD	https://www.uniprot.org/uniprot/O00767		https://www.ncbi.nlm.nih.gov/omim/?term=604031	http://www.informatics.jax.org/searchtool/Search.do?query=SCD&submit=Quick%0D%2297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD	rs1054411	0.282748	0.3202	0.3712	1	0	0	UTR5	UTR5	UTR5	SCD(NM_005063:c.-11C>G)	SCD(uc001kqy.3:c.-11C>G)	ENSG00000099194(ENST00000370355:c.-11C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	325;12|15	Hom;C>G	669;0|25
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102116208	102116213	ATCCCC	A	indel	intronic	 	 	 	 	SCD	Scd1	ENSG00000099194	stearoyl-CoA desaturase	chr10:102106881-102124591	This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]	plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females.	Fatty acyl-CoA biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005730;nucleolus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0004768;stearoyl-CoA 9-desaturase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCD	https://www.uniprot.org/uniprot/O00767		https://www.ncbi.nlm.nih.gov/omim/?term=604031	http://www.informatics.jax.org/searchtool/Search.do?query=SCD&submit=Quick%0D%2297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD	rs111712956	0.400958	0	0	1	0	0	intronic	intronic	intronic	SCD	SCD	ENSG00000099194	Na	Na	Na	Na	Na	Na	Het;-TCCCC	218;13|7	Hom;-TCCCC	671;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102116311	102116311	A	C	snp	nonsynonymous SNV	A670C	M224L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SCD	Scd1	ENSG00000099194	stearoyl-CoA desaturase	chr10:102106881-102124591	This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]	plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females.	Fatty acyl-CoA biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005730;nucleolus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0004768;stearoyl-CoA 9-desaturase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCD	https://www.uniprot.org/uniprot/O00767		https://www.ncbi.nlm.nih.gov/omim/?term=604031	http://www.informatics.jax.org/searchtool/Search.do?query=SCD&submit=Quick%0D%2297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD	rs2234970	0.388978	0.3996	0.4038	0.08	1	13	exonic	exonic	exonic	SCD	SCD	ENSG00000099194	nonsynonymous SNV	nonsynonymous SNV	unknown	SCD:NM_005063:exon5:c.A670C:p.M224L,	SCD:uc001kqy.3:exon5:c.A670C:p.M224L,	UNKNOWN	Het;A>C	777;24|36	Hom;A>C	1857;0|63
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102177933	102177933	C	T	snp	intergenic	 	 	 	 	AL359759.1																		rs11190521	0.153155	0	0	1	0	0	intergenic	intergenic	intergenic	OLMALINC(dist=29822),WNT8B(dist=44879)	LINC00263(dist=29817),WNT8B(dist=44879)	ENSG00000273030(dist=4755),ENSG00000075290(dist=44865)	Na	Na	Na	Na	Na	Na	Het;C>T	57;4|3	Hom;C>T	114;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102220770	102220786	TAGATAGACAGACAGAC	T	indel	intergenic	 	 	 	 	AL359759.1																		rs142366979	0	0	0	1	0	0	intergenic	intergenic	intergenic	OLMALINC(dist=72659),WNT8B(dist=2026)	LINC00263(dist=72654),WNT8B(dist=2026)	ENSG00000273030(dist=47592),ENSG00000075290(dist=2012)	Na	Na	Na	Na	Na	Na	Het;-AGATAGACAGACAGAC	872;27|26	Hom;-AGATAGACAGACAGAC	865;1|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102222825	102222825	T	C	snp	UTR5	-101T>C	 	 	 	WNT8B	Wnt8b	ENSG00000075290	Wnt family member 8B	chr10:102222798-102243501	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;ISS|GO:0007399;nervous system development;TAS|GO:0016055;Wnt signaling pathway;TAS|GO:0030182;neuron differentiation;IBA|GO:0032355;response to estradiol;NAS|GO:0032526;response to retinoic acid;NAS|GO:0045165;cell fate commitment;IBA|GO:0048263;determination of dorsal identity;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA	GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WNT8B	https://www.uniprot.org/uniprot/Q93098		https://www.ncbi.nlm.nih.gov/omim/?term=601396	http://www.informatics.jax.org/searchtool/Search.do?query=WNT8B&submit=Quick%0D%1537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT8B	rs3793772	0.186302	0	0	1	0	0	UTR5	UTR5	UTR5	WNT8B(NM_003393:c.-101T>C)	WNT8B(uc001krb.3:c.-101T>C)	ENSG00000075290(ENST00000343737:c.-101T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	115;4|4	Hom;T>C	300;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102222957	102222957	G	C	snp	nonsynonymous SNV	G32C	C11S	polar,hydrophobic,neutral	polar,hydrophilic,neutral	WNT8B	Wnt8b	ENSG00000075290	Wnt family member 8B	chr10:102222798-102243501	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;ISS|GO:0007399;nervous system development;TAS|GO:0016055;Wnt signaling pathway;TAS|GO:0030182;neuron differentiation;IBA|GO:0032355;response to estradiol;NAS|GO:0032526;response to retinoic acid;NAS|GO:0045165;cell fate commitment;IBA|GO:0048263;determination of dorsal identity;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA	GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WNT8B	https://www.uniprot.org/uniprot/Q93098		https://www.ncbi.nlm.nih.gov/omim/?term=601396	http://www.informatics.jax.org/searchtool/Search.do?query=WNT8B&submit=Quick%0D%1537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT8B	rs3793771	0.186302	0.2187	0.2127	0.15	2	13	exonic	exonic	exonic	WNT8B	WNT8B	ENSG00000075290	nonsynonymous SNV	nonsynonymous SNV	unknown	WNT8B:NM_003393:exon1:c.G32C:p.C11S,	WNT8B:uc001krb.3:exon1:c.G32C:p.C11S,	UNKNOWN	Het;G>C	424;29|20	Hom;G>C	1328;0|48
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102238953	102238953	C	T	snp	intronic	 	 	 	 	WNT8B	Wnt8b	ENSG00000075290	Wnt family member 8B	chr10:102222798-102243501	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;ISS|GO:0007399;nervous system development;TAS|GO:0016055;Wnt signaling pathway;TAS|GO:0030182;neuron differentiation;IBA|GO:0032355;response to estradiol;NAS|GO:0032526;response to retinoic acid;NAS|GO:0045165;cell fate commitment;IBA|GO:0048263;determination of dorsal identity;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA	GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WNT8B	https://www.uniprot.org/uniprot/Q93098		https://www.ncbi.nlm.nih.gov/omim/?term=601396	http://www.informatics.jax.org/searchtool/Search.do?query=WNT8B&submit=Quick%0D%1537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT8B	rs11190578	0.185503	0	0	1	0	0	intronic	intronic	intronic	WNT8B	WNT8B	ENSG00000075290	Na	Na	Na	Na	Na	Na	Het;C>T	212;5|8	Hom;C>T	816;0|27
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102239829	102239829	G	A	snp	intronic	 	 	 	 	WNT8B	Wnt8b	ENSG00000075290	Wnt family member 8B	chr10:102222798-102243501	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;ISS|GO:0007399;nervous system development;TAS|GO:0016055;Wnt signaling pathway;TAS|GO:0030182;neuron differentiation;IBA|GO:0032355;response to estradiol;NAS|GO:0032526;response to retinoic acid;NAS|GO:0045165;cell fate commitment;IBA|GO:0048263;determination of dorsal identity;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA	GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WNT8B	https://www.uniprot.org/uniprot/Q93098		https://www.ncbi.nlm.nih.gov/omim/?term=601396	http://www.informatics.jax.org/searchtool/Search.do?query=WNT8B&submit=Quick%0D%1537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT8B	rs2295770	0.183906	0	0	1	0	0	intronic	intronic	intronic	WNT8B	WNT8B	ENSG00000075290	Na	Na	Na	Na	Na	Na	Het;G>A	639;47|32	Hom;G>A	2193;0|79
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102241998	102241998	G	C	snp	intronic	 	 	 	 	WNT8B	Wnt8b	ENSG00000075290	Wnt family member 8B	chr10:102222798-102243501	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;ISS|GO:0007399;nervous system development;TAS|GO:0016055;Wnt signaling pathway;TAS|GO:0030182;neuron differentiation;IBA|GO:0032355;response to estradiol;NAS|GO:0032526;response to retinoic acid;NAS|GO:0045165;cell fate commitment;IBA|GO:0048263;determination of dorsal identity;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA	GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WNT8B	https://www.uniprot.org/uniprot/Q93098		https://www.ncbi.nlm.nih.gov/omim/?term=601396	http://www.informatics.jax.org/searchtool/Search.do?query=WNT8B&submit=Quick%0D%1537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT8B	rs17113137	0.187899	0.2061	0.2296	1	0	0	intronic	intronic	intronic	WNT8B	WNT8B	ENSG00000075290	Na	Na	Na	Na	Na	Na	Het;G>C	390;5|15	Hom;G>C	1048;0|38
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102247408	102247408	C	A	snp	nonsynonymous SNV	G3505T	A1169S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs2298075	0.188898	0.2201	0.2201	0.15	2	13	exonic	exonic	exonic	SEC31B	SEC31B	ENSG00000075826	nonsynonymous SNV	nonsynonymous SNV	unknown	SEC31B:NM_015490:exon26:c.G3505T:p.A1169S,	SEC31B:uc001krf.1:exon25:c.G1804T:p.A602S,SEC31B:uc001krd.1:exon26:c.G2116T:p.A706S,SEC31B:uc001krc.1:exon26:c.G3505T:p.A1169S,SEC31B:uc010qpo.1:exon25:c.G3502T:p.A1168S,SEC31B:uc001kre.1:exon25:c.G1798T:p.A600S,	UNKNOWN	Het;C>A	1079;64|52	Hom;C>A	3463;0|132
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102247526	102247526	G	C	snp	synonymous SNV	C1686G	L562L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs2298074	0.142372	0.1694	0.1982	1	0	0	exonic	exonic	exonic	SEC31B	SEC31B	ENSG00000075826	synonymous SNV	synonymous SNV	unknown	SEC31B:NM_015490:exon26:c.C3387G:p.L1129L,	SEC31B:uc001krf.1:exon25:c.C1686G:p.L562L,SEC31B:uc001krd.1:exon26:c.C1998G:p.L666L,SEC31B:uc001krc.1:exon26:c.C3387G:p.L1129L,SEC31B:uc010qpo.1:exon25:c.C3384G:p.L1128L,SEC31B:uc001kre.1:exon25:c.C1680G:p.L560L,	UNKNOWN	Het;G>C	2149;105|101	Hom;G>C	4917;1|179
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102248884	102248884	C	T	snp	intronic	 	 	 	 	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs3750720	0.14397	0	0	1	0	0	intronic	intronic	intronic	SEC31B	SEC31B	ENSG00000075826	Na	Na	Na	Na	Na	Na	Het;C>T	92;7|5	Hom;C>T	171;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102248950	102248950	C	G	snp	intronic	 	 	 	 	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs3750719	0.141773	0	0	1	0	0	intronic	intronic	intronic	SEC31B	SEC31B	ENSG00000075826	Na	Na	Na	Na	Na	Na	Het;C>G	181;18|11	Hom;C>G	197;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102258439	102258439	C	T	snp	intronic	 	 	 	 	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs9420792	0.19369	0.2273	0.2139	1	0	0	intronic	intronic	intronic	SEC31B	SEC31B	ENSG00000075826	Na	Na	Na	Na	Na	Na	Het;C>T	907;42|43	Hom;C>T	2026;0|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102265183	102265183	G	A	snp	nonsynonymous SNV	C1114T	P372S	hydrophobic,neutral	polar,hydrophilic,neutral	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs2295772	0.185104	0.2115	0.2124	0.23	3	13	exonic	exonic	exonic	SEC31B	SEC31B	ENSG00000075826	nonsynonymous SNV	nonsynonymous SNV	unknown	SEC31B:NM_015490:exon10:c.C1114T:p.P372S,	SEC31B:uc001krc.1:exon10:c.C1114T:p.P372S,SEC31B:uc010qpo.1:exon9:c.C1111T:p.P371S,	UNKNOWN	Het;G>A	705;61|40	Hom;G>A	1822;2|65
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102265815	102265815	A	G	snp	synonymous SNV	T555C	H185H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs2295773	0.185104	0.2115	0.2089	1	0	0	exonic	exonic	exonic	SEC31B	SEC31B	ENSG00000075826	synonymous SNV	synonymous SNV	unknown	SEC31B:NM_015490:exon9:c.T1026C:p.H342H,	SEC31B:uc010qpq.1:exon10:c.T555C:p.H185H,SEC31B:uc001krc.1:exon9:c.T1026C:p.H342H,SEC31B:uc010qpp.1:exon10:c.T1035C:p.H345H,SEC31B:uc010qpo.1:exon8:c.T1023C:p.H341H,SEC31B:uc009xwn.1:exon9:c.T1026C:p.H342H,SEC31B:uc009xwo.1:exon12:c.T1026C:p.H342H,	UNKNOWN	Het;A>G	439;34|22	Hom;A>G	1129;0|37
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102265847	102265847	A	C	snp	nonsynonymous SNV	T994G	S332A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs2295774	0.14996	0.1713	0.1980	0.77	10	13	exonic	exonic	exonic	SEC31B	SEC31B	ENSG00000075826	nonsynonymous SNV	nonsynonymous SNV	unknown	SEC31B:NM_015490:exon9:c.T994G:p.S332A,	SEC31B:uc010qpq.1:exon10:c.T523G:p.S175A,SEC31B:uc001krc.1:exon9:c.T994G:p.S332A,SEC31B:uc010qpp.1:exon10:c.T1003G:p.S335A,SEC31B:uc010qpo.1:exon8:c.T991G:p.S331A,SEC31B:uc009xwn.1:exon9:c.T994G:p.S332A,SEC31B:uc009xwo.1:exon12:c.T994G:p.S332A,	UNKNOWN	Het;A>C	851;49|38	Hom;A>C	1547;0|55
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102269085	102269085	C	A	snp	nonsynonymous SNV	G387T	L129F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs3793706	0.194089	0.2274	0.2139	0.15	2	13	exonic	exonic	exonic	SEC31B	SEC31B	ENSG00000075826	nonsynonymous SNV	nonsynonymous SNV	unknown	SEC31B:NM_015490:exon4:c.G387T:p.L129F,	SEC31B:uc001krc.1:exon4:c.G387T:p.L129F,SEC31B:uc010qpp.1:exon4:c.G387T:p.L129F,SEC31B:uc010qpo.1:exon3:c.G387T:p.L129F,SEC31B:uc009xwn.1:exon4:c.G387T:p.L129F,SEC31B:uc009xwo.1:exon7:c.G387T:p.L129F,	UNKNOWN	Het;C>A	1018;42|45	Hom;C>A	1804;0|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102269206	102269206	A	G	snp	nonsynonymous SNV	T266C	V89A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs3763695	0.185304	0.2111	0.2097	0.23	3	13	exonic	exonic	exonic	SEC31B	SEC31B	ENSG00000075826	nonsynonymous SNV	nonsynonymous SNV	unknown	SEC31B:NM_015490:exon4:c.T266C:p.V89A,	SEC31B:uc001krc.1:exon4:c.T266C:p.V89A,SEC31B:uc010qpp.1:exon4:c.T266C:p.V89A,SEC31B:uc010qpo.1:exon3:c.T266C:p.V89A,SEC31B:uc009xwn.1:exon4:c.T266C:p.V89A,SEC31B:uc009xwo.1:exon7:c.T266C:p.V89A,	UNKNOWN	Het;A>G	1174;43|54	Hom;A>G	3969;0|142
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102275780	102275780	A	G	snp	intronic	 	 	 	 	SEC31B	Sec31b	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B	rs3750630	0.200879	0	0	1	0	0	intronic	intronic	intronic	SEC31B	SEC31B	ENSG00000075826,ENSG00000166136,ENSG00000255339	Na	Na	Na	Na	Na	Na	Het;A>G	305;10|12	Hom;A>G	385;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102289078	102289078	C	A	snp	UTR5	-7234C>A	 	 	 	HIF1AN	Hif1an	ENSG00000166135	hypoxia inducible factor 1 alpha subunit inhibitor	chr10:102288829-102319755		lung cancer; Alzheimer's disease ; prostate cancer; lung cancer ; Alzheimer Disease; chronic obstructive pulmonary disease; bladder cancer; esophageal adenocarcinoma; Coronary Artery Disease	Mice homozygous for a null allele have metabloic, behavioral and cardiopulmonary  abnormalities.	Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0036138;peptidyl-histidine hydroxylation;IDA|GO:0042264;peptidyl-aspartic acid hydroxylation;IDA|GO:0042265;peptidyl-asparagine hydroxylation;IDA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0061428;negative regulation of transcription from RNA polymerase II promoter in response to hypoxia;IDA|GO:2001214;positive regulation of vasculogenesis;NAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005112;Notch binding;IPI|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;EXP|GO:0019826;oxygen sensor activity;NAS|GO:0031406;carboxylic acid binding;IDA|GO:0036139;peptidyl-histidine dioxygenase activity;IDA|GO:0036140;peptidyl-asparagine 3-dioxygenase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048037;cofactor binding;IDA|GO:0051059;NF-kappaB binding;IPI|GO:0051213;dioxygenase activity;IEA|GO:0071532;ankyrin repeat binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HIF1AN			https://www.ncbi.nlm.nih.gov/omim/?term=606615	http://www.informatics.jax.org/searchtool/Search.do?query=HIF1AN&submit=Quick%0D%11702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIF1AN	rs1800662	0.180911	0	0	1	0	0	intronic	intronic	UTR5	NDUFB8	NDUFB8,SEC31B	ENSG00000166135(ENST00000533589:c.-7234C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	222;27|13	Hom;C>A	1287;0|48
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102296061	102296061	A	G	snp	intronic	 	 	 	 	HIF1AN	Hif1an	ENSG00000166135	hypoxia inducible factor 1 alpha subunit inhibitor	chr10:102288829-102319755		lung cancer; Alzheimer's disease ; prostate cancer; lung cancer ; Alzheimer Disease; chronic obstructive pulmonary disease; bladder cancer; esophageal adenocarcinoma; Coronary Artery Disease	Mice homozygous for a null allele have metabloic, behavioral and cardiopulmonary  abnormalities.	Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0036138;peptidyl-histidine hydroxylation;IDA|GO:0042264;peptidyl-aspartic acid hydroxylation;IDA|GO:0042265;peptidyl-asparagine hydroxylation;IDA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0061428;negative regulation of transcription from RNA polymerase II promoter in response to hypoxia;IDA|GO:2001214;positive regulation of vasculogenesis;NAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005112;Notch binding;IPI|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;EXP|GO:0019826;oxygen sensor activity;NAS|GO:0031406;carboxylic acid binding;IDA|GO:0036139;peptidyl-histidine dioxygenase activity;IDA|GO:0036140;peptidyl-asparagine 3-dioxygenase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048037;cofactor binding;IDA|GO:0051059;NF-kappaB binding;IPI|GO:0051213;dioxygenase activity;IEA|GO:0071532;ankyrin repeat binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HIF1AN			https://www.ncbi.nlm.nih.gov/omim/?term=606615	http://www.informatics.jax.org/searchtool/Search.do?query=HIF1AN&submit=Quick%0D%11702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIF1AN	rs2295779	0.18111	0	0	1	0	0	intronic	intronic	intronic	HIF1AN	HIF1AN	ENSG00000166135	Na	Na	Na	Na	Na	Na	Het;A>G	42;7|3	Hom;A>G	202;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102296461	102296461	C	T	snp	intronic	 	 	 	 	HIF1AN	Hif1an	ENSG00000166135	hypoxia inducible factor 1 alpha subunit inhibitor	chr10:102288829-102319755		lung cancer; Alzheimer's disease ; prostate cancer; lung cancer ; Alzheimer Disease; chronic obstructive pulmonary disease; bladder cancer; esophageal adenocarcinoma; Coronary Artery Disease	Mice homozygous for a null allele have metabloic, behavioral and cardiopulmonary  abnormalities.	Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0036138;peptidyl-histidine hydroxylation;IDA|GO:0042264;peptidyl-aspartic acid hydroxylation;IDA|GO:0042265;peptidyl-asparagine hydroxylation;IDA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0061428;negative regulation of transcription from RNA polymerase II promoter in response to hypoxia;IDA|GO:2001214;positive regulation of vasculogenesis;NAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005112;Notch binding;IPI|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;EXP|GO:0019826;oxygen sensor activity;NAS|GO:0031406;carboxylic acid binding;IDA|GO:0036139;peptidyl-histidine dioxygenase activity;IDA|GO:0036140;peptidyl-asparagine 3-dioxygenase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048037;cofactor binding;IDA|GO:0051059;NF-kappaB binding;IPI|GO:0051213;dioxygenase activity;IEA|GO:0071532;ankyrin repeat binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HIF1AN			https://www.ncbi.nlm.nih.gov/omim/?term=606615	http://www.informatics.jax.org/searchtool/Search.do?query=HIF1AN&submit=Quick%0D%11702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIF1AN	rs10883509	0.180911	0.2085	0.2091	1	0	0	intronic	intronic	intronic	HIF1AN	HIF1AN	ENSG00000166135	Na	Na	Na	Na	Na	Na	Het;C>T	258;11|12	Hom;C>T	779;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102775349	102775350	CT	C	indel	intronic	 	 	 	 	PDZD7	Pdzd7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7	rs34125357	0.228834	0	0.3519	1	0	0	intronic	intronic	intronic	PDZD7	PDZD7	ENSG00000186862	Na	Na	Na	Na	Na	Na	Het;-T	192;11|7	Hom;-T	692;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102777768	102777768	C	G	snp	intronic	 	 	 	 	PDZD7	Pdzd7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7	rs11190793	0.545128	0	0	1	0	0	intronic	intronic	intronic	PDZD7	PDZD7	ENSG00000186862	Na	Na	Na	Na	Na	Na	Het;C>G	91;1|4	Hom;C>G	100;0|3
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102780265	102780265	G	A	snp	intronic	 	 	 	 	PDZD7	Pdzd7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7	rs7075659	0.205272	0	0	1	0	0	intronic	intronic	intronic	PDZD7	PDZD7	ENSG00000186862	Na	Na	Na	Na	Na	Na	Het;G>A	445;13|18	Hom;G>A	599;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102780312	102780312	G	T	snp	intronic	 	 	 	 	PDZD7	Pdzd7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7	rs7075685	0.596246	0.6551	0	1	0	0	intronic	intronic	intronic	PDZD7	PDZD7	ENSG00000186862	Na	Na	Na	Na	Na	Na	Het;G>T	635;34|34	Hom;G>T	1367;0|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102780354	102780355	TG	T	indel	intronic	 	 	 	 	PDZD7	Pdzd7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7	rs77484072	0.481629	0	0.4817	1	0	0	intronic	intronic	intronic	PDZD7	PDZD7	ENSG00000186862	Na	Na	Na	Na	Na	Na	Het;-G	1404;53|49	Hom;-G	3308;0|93
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102783678	102783678	T	C	snp	unknown	 	 	 	 	PDZD7	Pdzd7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7	rs6584410	0.596046	0.6615	0.5777	1	0	0	intronic	intronic	exonic	PDZD7	PDZD7	ENSG00000186862	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	853;60|38	Hom;T>C	2245;2|87
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102893840	102893840	G	A	snp	intronic	 	 	 	 	TLX1	Tlx1	ENSG00000107807	T-cell leukemia homeobox 1	chr10:102889257-102897545	This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Precursor T-cell acute lymphoblastic leukemia	Homozygous mutant embryos show cellular disorganization at the site of splenic development and never develop a spleen.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLX1	https://www.uniprot.org/uniprot/P31314		https://www.ncbi.nlm.nih.gov/omim/?term=186770	http://www.informatics.jax.org/searchtool/Search.do?query=TLX1&submit=Quick%0D%3639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLX1	rs12415670	0.163938	0	0	1	0	0	intronic	intronic	intronic	TLX1	TLX1	ENSG00000107807	Na	Na	Na	Na	Na	Na	Het;G>A	63;3|3	Hom;G>A	169;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102900455	102900455	G	A	snp	upstream	 	 	 	 	ENSG00000226740																		rs2863077	0.702476	0	0	1	0	0	intergenic	intergenic	upstream	TLX1(dist=2909),LINC01514(dist=35624)	TLX1(dist=2909),LBX1(dist=86278)	ENSG00000226740	Na	Na	Na	Na	Na	Na	Het;G>A	1595;60|70	Hom;G>A	2980;0|109
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102936411	102936411	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01514																		rs792711	0.828874	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01514	TLX1(dist=38865),LBX1(dist=50322)	ENSG00000237579	Na	Na	Na	Na	Na	Na	Het;C>T	763;39|38	Hom;C>T	1931;1|77
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102936879	102936879	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01514																		rs792710	0.805312	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01514	TLX1(dist=39333),LBX1(dist=49854)	ENSG00000237579	Na	Na	Na	Na	Na	Na	Het;C>T	529;66|31	Hom;C>T	2437;2|93
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	102953963	102953964	AT	A	indel	downstream	 	 	 	 	LINC01514																		rs398097172	0	0	0	1	0	0	downstream	intergenic	downstream	LINC01514	TLX1(dist=56417),LBX1(dist=32769)	ENSG00000237579	Na	Na	Na	Na	Na	Na	Het;-T	160;16|14	Hom;-T	677;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103281634	103281634	C	G	snp	intronic	 	 	 	 	BTRC	Btrc	ENSG00000166167	beta-transducin repeat containing E3 ubiquitin protein ligase	chr10:103113820-103317078	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]	colorectal cancer; hepatocellular carcinoma; Tobacco Use Disorder; stomach cancer; cerebellar medulloblastomas and cutaneous basal cell carcinomas.; Alzheimer's disease ; Respiratory Function Tests	Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006470;protein dephosphorylation;ISS|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0007165;signal transduction;TAS|GO:0016032;viral process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0016567;protein ubiquitination;IDA|GO:0030163;protein catabolic process;IEA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0031648;protein destabilization;IMP|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042752;regulation of circadian rhythm;IDA|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045862;positive regulation of proteolysis;IMP|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051403;stress-activated MAPK cascade;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051726;regulation of cell cycle;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IC|GO:0061136;regulation of proteasomal protein catabolic process;IEA|GO:0071407;cellular response to organic cyclic compound;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0016874;ligase activity;IEA|GO:0045309;protein phosphorylated amino acid binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BTRC		https://hpo.jax.org/app/browse/search?q=BTRC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603482	http://www.informatics.jax.org/searchtool/Search.do?query=BTRC&submit=Quick%0D%11716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTRC	rs6584429	0.415535	0.3056	0.2639	1	0	0	intronic	intronic	intronic	BTRC	BTRC	ENSG00000166167	Na	Na	Na	Na	Na	Na	Het;C>G	777;20|25	Hom;C>G	1316;0|38
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103281676	103281676	G	A	snp	intronic	 	 	 	 	BTRC	Btrc	ENSG00000166167	beta-transducin repeat containing E3 ubiquitin protein ligase	chr10:103113820-103317078	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]	colorectal cancer; hepatocellular carcinoma; Tobacco Use Disorder; stomach cancer; cerebellar medulloblastomas and cutaneous basal cell carcinomas.; Alzheimer's disease ; Respiratory Function Tests	Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006470;protein dephosphorylation;ISS|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0007165;signal transduction;TAS|GO:0016032;viral process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0016567;protein ubiquitination;IDA|GO:0030163;protein catabolic process;IEA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0031648;protein destabilization;IMP|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042752;regulation of circadian rhythm;IDA|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045862;positive regulation of proteolysis;IMP|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051403;stress-activated MAPK cascade;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051726;regulation of cell cycle;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IC|GO:0061136;regulation of proteasomal protein catabolic process;IEA|GO:0071407;cellular response to organic cyclic compound;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0016874;ligase activity;IEA|GO:0045309;protein phosphorylated amino acid binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BTRC		https://hpo.jax.org/app/browse/search?q=BTRC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603482	http://www.informatics.jax.org/searchtool/Search.do?query=BTRC&submit=Quick%0D%11716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTRC	rs6584430	0.453275	0.3124	0.2928	1	0	0	intronic	intronic	intronic	BTRC	BTRC	ENSG00000166167	Na	Na	Na	Na	Na	Na	Het;G>A	326;8|9	Hom;G>A	442;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103290938	103290938	T	A	snp	intronic	 	 	 	 	BTRC	Btrc	ENSG00000166167	beta-transducin repeat containing E3 ubiquitin protein ligase	chr10:103113820-103317078	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]	colorectal cancer; hepatocellular carcinoma; Tobacco Use Disorder; stomach cancer; cerebellar medulloblastomas and cutaneous basal cell carcinomas.; Alzheimer's disease ; Respiratory Function Tests	Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006470;protein dephosphorylation;ISS|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0007165;signal transduction;TAS|GO:0016032;viral process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0016567;protein ubiquitination;IDA|GO:0030163;protein catabolic process;IEA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0031648;protein destabilization;IMP|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042752;regulation of circadian rhythm;IDA|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045862;positive regulation of proteolysis;IMP|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051403;stress-activated MAPK cascade;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051726;regulation of cell cycle;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IC|GO:0061136;regulation of proteasomal protein catabolic process;IEA|GO:0071407;cellular response to organic cyclic compound;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0016874;ligase activity;IEA|GO:0045309;protein phosphorylated amino acid binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BTRC		https://hpo.jax.org/app/browse/search?q=BTRC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603482	http://www.informatics.jax.org/searchtool/Search.do?query=BTRC&submit=Quick%0D%11716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTRC	rs11816753	0.210064	0	0	1	0	0	intronic	intronic	intronic	BTRC	BTRC	ENSG00000166167	Na	Na	Na	Na	Na	Na	Het;T>A	271;13|12	Hom;T>A	753;0|26
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103338730	103338730	C	A	snp	UTR3	*480G>T	 	 	 	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs1055364	0.163339	0	0	1	0	0	UTR3	UTR3	UTR3	POLL(NM_001174085:c.*480G>T,NM_013274:c.*480G>T,NM_001174084:c.*480G>T)	POLL(uc001ktd.1:c.*480G>T,uc001kte.1:c.*480G>T,uc001ktg.1:c.*480G>T,uc001kth.1:c.*480G>T,uc001ktj.2:c.*480G>T,uc001ktf.3:c.*480G>T,uc001kti.2:c.*480G>T,uc001ktl.3:c.*480G>T,uc001ktm.3:c.*480G>T,uc010qqc.2:c.*480G>T,uc010qqa.2:c.*480G>T)	ENSG00000166169(ENST00000370172:c.*480G>T,ENST00000299206:c.*480G>T,ENST00000339310:c.*480G>T,ENST00000370169:c.*480G>T,ENST00000370168:c.*480G>T,ENST00000370158:c.*480G>T,ENST00000370162:c.*480G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1832;48|46	Hom;C>A	5615;0|126
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103338733	103338733	A	G	snp	UTR3	*477T>C	 	 	 	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs1055362	0.163339	0	0	1	0	0	UTR3	UTR3	UTR3	POLL(NM_001174085:c.*477T>C,NM_013274:c.*477T>C,NM_001174084:c.*477T>C)	POLL(uc001ktd.1:c.*477T>C,uc001kte.1:c.*477T>C,uc001ktg.1:c.*477T>C,uc001kth.1:c.*477T>C,uc001ktj.2:c.*477T>C,uc001ktf.3:c.*477T>C,uc001kti.2:c.*477T>C,uc001ktl.3:c.*477T>C,uc001ktm.3:c.*477T>C,uc010qqc.2:c.*477T>C,uc010qqa.2:c.*477T>C)	ENSG00000166169(ENST00000370172:c.*477T>C,ENST00000299206:c.*477T>C,ENST00000339310:c.*477T>C,ENST00000370169:c.*477T>C,ENST00000370168:c.*477T>C,ENST00000370158:c.*477T>C,ENST00000370162:c.*477T>C,ENST00000456836:c.*477T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1832;49|50	Hom;A>G	5747;0|130
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103340056	103340056	G	A	snp	nonsynonymous SNV	C1312T	R438W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs3730477	0.0998403	0.1761	0.1678	0.46	6	13	exonic	exonic	exonic	POLL	POLL	ENSG00000166169	nonsynonymous SNV	nonsynonymous SNV	unknown	POLL:NM_013274:exon8:c.C1312T:p.R438W,POLL:NM_001174085:exon8:c.C1036T:p.R346W,POLL:NM_001174084:exon8:c.C1312T:p.R438W,	POLL:uc001ktf.3:exon8:c.C1036T:p.R346W,POLL:uc001kth.1:exon4:c.C487T:p.R163W,POLL:uc010qqc.2:exon7:c.C388T:p.R130W,POLL:uc001ktm.3:exon8:c.C1312T:p.R438W,POLL:uc001ktl.3:exon8:c.C1048T:p.R350W,POLL:uc001ktd.1:exon2:c.C331T:p.R111W,POLL:uc001ktg.1:exon7:c.C1312T:p.R438W,POLL:uc001kte.1:exon3:c.C388T:p.R130W,POLL:uc010qqa.2:exon6:c.C529T:p.R177W,POLL:uc001ktj.2:exon8:c.C1312T:p.R438W,POLL:uc001kti.2:exon8:c.C1312T:p.R438W,	UNKNOWN	Het;G>A	533;46|30	Hom;G>A	1526;0|56
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103340144	103340144	A	G	snp	synonymous SNV	T948C	S316S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs3730476	0.163139	0.2654	0.2306	1	0	0	exonic	exonic	exonic	POLL	POLL	ENSG00000166169	synonymous SNV	synonymous SNV	unknown	POLL:NM_013274:exon8:c.T1224C:p.S408S,POLL:NM_001174085:exon8:c.T948C:p.S316S,POLL:NM_001174084:exon8:c.T1224C:p.S408S,	POLL:uc001ktf.3:exon8:c.T948C:p.S316S,POLL:uc001kth.1:exon4:c.T399C:p.S133S,POLL:uc010qqc.2:exon7:c.T300C:p.S100S,POLL:uc001ktm.3:exon8:c.T1224C:p.S408S,POLL:uc001ktl.3:exon8:c.T960C:p.S320S,POLL:uc001ktd.1:exon2:c.T243C:p.S81S,POLL:uc001ktg.1:exon7:c.T1224C:p.S408S,POLL:uc001kte.1:exon3:c.T300C:p.S100S,POLL:uc010qqa.2:exon6:c.T441C:p.S147S,POLL:uc001ktj.2:exon8:c.T1224C:p.S408S,POLL:uc001kti.2:exon8:c.T1224C:p.S408S,	UNKNOWN	Het;A>G	540;31|25	Hom;A>G	1237;0|48
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103340179	103340179	A	G	snp	intronic	 	 	 	 	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs3730475	0.163339	0.2597	0.2320	1	0	0	intronic	intronic	intronic	POLL	DPCD,POLL	ENSG00000166169,ENSG00000166171	Na	Na	Na	Na	Na	Na	Het;A>G	191;21|11	Hom;A>G	843;0|33
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103340235	103340235	T	C	snp	intronic	 	 	 	 	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs3730474	0.163139	0	0	1	0	0	intronic	intronic	intronic	POLL	DPCD,POLL	ENSG00000166169,ENSG00000166171	Na	Na	Na	Na	Na	Na	Het;T>C	145;9|6	Hom;T>C	339;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103343533	103343533	A	G	snp	UTR5	-128T>C	 	 	 	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs3730465	0.164936	0	0	1	0	0	intronic	UTR5	intronic	POLL	POLL(uc001kte.1:c.-128T>C)	ENSG00000166169,ENSG00000166171	Na	Na	Na	Na	Na	Na	Het;A>G	79;3|3	Hom;A>G	300;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103345940	103345945	CTGTTG	C	indel	intronic	 	 	 	 	POLL	Poll	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL	rs3730462	0.162939	0.2305	0.2281	1	0	0	intronic	intronic	intronic	POLL	DPCD,POLL	ENSG00000166169,ENSG00000166171	Na	Na	Na	Na	Na	Na	Het;-TGTTG	440;37|14	Hom;-TGTTG	1844;0|42
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103354554	103354554	A	G	snp	intronic	 	 	 	 	DPCD	Dpcd	ENSG00000166171	deleted in primary ciliary dyskinesia homolog (mouse)	chr10:103330317-103369425	This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]	Alzheimer's disease 	 		GO:0003351;epithelial cilium movement;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0021591;ventricular system development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021678;third ventricle development;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0060972;left/right pattern formation;IEA	GO:0005634;nucleus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DPCD			https://www.ncbi.nlm.nih.gov/omim/?term=616467	http://www.informatics.jax.org/searchtool/Search.do?query=DPCD&submit=Quick%0D%11719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPCD	rs7911520	0.169329	0.2779	0	1	0	0	intronic	intronic	intronic	DPCD	DPCD	ENSG00000166171	Na	Na	Na	Na	Na	Na	Het;A>G	55;11|4	Hom;A>G	485;0|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103360824	103360824	C	T	snp	intronic	 	 	 	 	DPCD	Dpcd	ENSG00000166171	deleted in primary ciliary dyskinesia homolog (mouse)	chr10:103330317-103369425	This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]	Alzheimer's disease 	 		GO:0003351;epithelial cilium movement;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0021591;ventricular system development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021678;third ventricle development;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0060972;left/right pattern formation;IEA	GO:0005634;nucleus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DPCD			https://www.ncbi.nlm.nih.gov/omim/?term=616467	http://www.informatics.jax.org/searchtool/Search.do?query=DPCD&submit=Quick%0D%11719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPCD	rs11191059	0.165735	0	0	1	0	0	intronic	intronic	intronic	DPCD	DPCD	ENSG00000166171	Na	Na	Na	Na	Na	Na	Het;C>T	78;8|4	Hom;C>T	281;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103361088	103361088	C	T	snp	synonymous SNV	C399T	N133N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DPCD	Dpcd	ENSG00000166171	deleted in primary ciliary dyskinesia homolog (mouse)	chr10:103330317-103369425	This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]	Alzheimer's disease 	 		GO:0003351;epithelial cilium movement;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0021591;ventricular system development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021678;third ventricle development;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0060972;left/right pattern formation;IEA	GO:0005634;nucleus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DPCD			https://www.ncbi.nlm.nih.gov/omim/?term=616467	http://www.informatics.jax.org/searchtool/Search.do?query=DPCD&submit=Quick%0D%11719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPCD	rs7874	0.0998403	0.1766	0.1680	1	0	0	exonic	exonic	exonic	DPCD	DPCD	ENSG00000166171	synonymous SNV	synonymous SNV	unknown	DPCD:NM_015448:exon4:c.C399T:p.N133N,	DPCD:uc001ktn.3:exon4:c.C399T:p.N133N,	UNKNOWN	Het;C>T	1073;63|53	Hom;C>T	3824;2|149
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103368654	103368654	T	C	snp	nonsynonymous SNV	T467C	L156S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	DPCD	Dpcd	ENSG00000166171	deleted in primary ciliary dyskinesia homolog (mouse)	chr10:103330317-103369425	This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]	Alzheimer's disease 	 		GO:0003351;epithelial cilium movement;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0021591;ventricular system development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021678;third ventricle development;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0060972;left/right pattern formation;IEA	GO:0005634;nucleus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DPCD			https://www.ncbi.nlm.nih.gov/omim/?term=616467	http://www.informatics.jax.org/searchtool/Search.do?query=DPCD&submit=Quick%0D%11719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPCD	rs7006	0.227236	0.3070	0.2499	0.15	2	13	exonic	exonic	exonic	DPCD	DPCD	ENSG00000166171	nonsynonymous SNV	nonsynonymous SNV	unknown	DPCD:NM_015448:exon5:c.T467C:p.L156S,	DPCD:uc001ktn.3:exon5:c.T467C:p.L156S,	UNKNOWN	Het;T>C	1260;73|64	Hom;T>C	2320;2|92
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103454402	103454402	A	T	snp	UTR5	-5T>A	 	 	 	FBXW4	Fbxw4	ENSG00000107829	F-box and WD repeat domain containing 4	chr10:103370423-103455052	This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]	SPLIT-HAND/FOOT MALFORMATION TYPE 3	Homozygotes for a spontaneous null mutation lack feet except for a single fused digit and die prenatally. Heterozygotes, in the presence of a recessive modifying allele, show loss of digits, frequently with fused metatarsal and metacarpal bones.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030326;embryonic limb morphogenesis;NAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051216;cartilage development;IEA|GO:0060173;limb development;IEA	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IBA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXW4	https://www.uniprot.org/uniprot/P57775		https://www.ncbi.nlm.nih.gov/omim/?term=608071	http://www.informatics.jax.org/searchtool/Search.do?query=FBXW4&submit=Quick%0D%3644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW4	rs61382490	0.0952476	0.1039	0.2288	1	0	0	UTR5	UTR5	UTR5	FBXW4(NM_022039:c.-5T>A)	FBXW4(uc001kto.3:c.-5T>A)	ENSG00000107829(ENST00000331272:c.-5T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	1238;67|58	Hom;A>T	3459;3|123
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103559245	103559245	G	T	snp	intronic	 	 	 	 	MGEA5	Mgea5	ENSG00000198408	meningioma expressed antigen 5 (hyaluronidase)	chr10:103544200-103578696	The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2	Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability.		GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006493;protein O-linked glycosylation;NAS|GO:0006516;glycoprotein catabolic process;TAS|GO:0006517;protein deglycosylation;IDA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0004415;hyalurononglucosaminidase activity;TAS|GO:0016231;beta-N-acetylglucosaminidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0102166;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102167;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102571;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGEA5			https://www.ncbi.nlm.nih.gov/omim/?term=604039	http://www.informatics.jax.org/searchtool/Search.do?query=MGEA5&submit=Quick%0D%16888ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGEA5	rs76134290	0.0934505	0.1304	0.1491	1	0	0	intronic	intronic	intronic	MGEA5	MGEA5	ENSG00000198408	Na	Na	Na	Na	Na	Na	Het;G>T	465;22|23	Hom;G>T	2146;0|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103560321	103560321	T	C	snp	intronic	 	 	 	 	MGEA5	Mgea5	ENSG00000198408	meningioma expressed antigen 5 (hyaluronidase)	chr10:103544200-103578696	The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2	Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability.		GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006493;protein O-linked glycosylation;NAS|GO:0006516;glycoprotein catabolic process;TAS|GO:0006517;protein deglycosylation;IDA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0004415;hyalurononglucosaminidase activity;TAS|GO:0016231;beta-N-acetylglucosaminidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0102166;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102167;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102571;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGEA5			https://www.ncbi.nlm.nih.gov/omim/?term=604039	http://www.informatics.jax.org/searchtool/Search.do?query=MGEA5&submit=Quick%0D%16888ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGEA5	rs2305192	0.221446	0	0	1	0	0	intronic	intronic	intronic	MGEA5	MGEA5	ENSG00000198408	Na	Na	Na	Na	Na	Na	Het;T>C	118;3|4	Hom;T>C	58;0|2
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103560333	103560333	C	T	snp	intronic	 	 	 	 	MGEA5	Mgea5	ENSG00000198408	meningioma expressed antigen 5 (hyaluronidase)	chr10:103544200-103578696	The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2	Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability.		GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006493;protein O-linked glycosylation;NAS|GO:0006516;glycoprotein catabolic process;TAS|GO:0006517;protein deglycosylation;IDA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0004415;hyalurononglucosaminidase activity;TAS|GO:0016231;beta-N-acetylglucosaminidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0102166;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102167;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102571;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGEA5			https://www.ncbi.nlm.nih.gov/omim/?term=604039	http://www.informatics.jax.org/searchtool/Search.do?query=MGEA5&submit=Quick%0D%16888ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGEA5	rs2305191	0.265575	0	0	1	0	0	intronic	intronic	intronic	MGEA5	MGEA5	ENSG00000198408	Na	Na	Na	Na	Na	Na	Het;C>T	64;3|3	Hom;C>T	50;0|2
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103565960	103565960	G	C	snp	intronic	 	 	 	 	MGEA5	Mgea5	ENSG00000198408	meningioma expressed antigen 5 (hyaluronidase)	chr10:103544200-103578696	The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2	Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability.		GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006493;protein O-linked glycosylation;NAS|GO:0006516;glycoprotein catabolic process;TAS|GO:0006517;protein deglycosylation;IDA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0004415;hyalurononglucosaminidase activity;TAS|GO:0016231;beta-N-acetylglucosaminidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0102166;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102167;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102571;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGEA5			https://www.ncbi.nlm.nih.gov/omim/?term=604039	http://www.informatics.jax.org/searchtool/Search.do?query=MGEA5&submit=Quick%0D%16888ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGEA5	rs3740422	0.201078	0	0	1	0	0	intronic	intronic	intronic	MGEA5	MGEA5	ENSG00000198408	Na	Na	Na	Na	Na	Na	Het;G>C	429;3|18	Hom;G>C	698;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103603162	103603162	G	T	snp	intronic	 	 	 	 	KCNIP2	Kcnip2	ENSG00000120049	potassium voltage-gated channel interacting protein 2	chr10:103585731-103603677	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Mice homozygous for disruptions in this gene are susceptible to induced cardiac arrhythmias but are otherwise normal.	Phase 1 - inactivation of fast Na+ channels	GO:0005513;detection of calcium ion;TAS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006936;muscle contraction;NAS|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;NAS|GO:0008016;regulation of heart contraction;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045163;clustering of voltage-gated potassium channels;IDA|GO:0061337;cardiac conduction;TAS|GO:0071435;potassium ion export;IDA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086009;membrane repolarization;IDA|GO:0086013;membrane repolarization during cardiac muscle cell action potential;TAS|GO:0097623;potassium ion export across plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS|GO:2001257;regulation of cation channel activity;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0034705;potassium channel complex;TAS	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005250;A-type (transient outward) potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046923;ER retention sequence binding;NAS|GO:0047485;protein N-terminus binding;IPI|GO:0086008;voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNIP2	https://www.uniprot.org/uniprot/Q9NS61		https://www.ncbi.nlm.nih.gov/omim/?term=604661	http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP2&submit=Quick%0D%5154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP2	rs12413444	0.159345	0	0	1	0	0	intronic	intronic	intronic	KCNIP2	KCNIP2	ENSG00000120049	Na	Na	Na	Na	Na	Na	Het;G>T	168;14|10	Hom;G>T	387;0|13
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103845328	103845328	A	G	snp	ncRNA_exonic	 	 	 	 	AL500527.1																		rs58642005	0.0896565	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HPS6(dist=17533),LDB1(dist=21997)	HPS6(dist=17533),LDB1(dist=21997)	ENSG00000224302	Na	Na	Na	Na	Na	Na	Het;A>G	76;2|3	Hom;A>G	172;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103904763	103904764	TC	T	indel	intronic	 	 	 	 	PPRC1	Pprc1	ENSG00000148840	peroxisome proliferator-activated receptor gamma, coactivator-related 1	chr10:103892787-103910082	The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Diabetes Mellitus, Type 2|; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit letahlity post-implantation with delayed hatching and disorganized embryo tissues.	Transcriptional activation of mitochondrial biogenesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007005;mitochondrion organization;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:1903506;regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0001104;RNA polymerase II transcription cofactor activity;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003712;transcription cofactor activity;IEA|GO:0003723;RNA binding;IDA|GO:0008134;transcription factor binding;IBA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PPRC1	https://www.uniprot.org/uniprot/Q5VV67		https://www.ncbi.nlm.nih.gov/omim/?term=617462	http://www.informatics.jax.org/searchtool/Search.do?query=PPRC1&submit=Quick%0D%9167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPRC1	rs11357964	0.677516	0	0.7620	1	0	0	intronic	intronic	intronic	PPRC1	PPRC1	ENSG00000148840	Na	Na	Na	Na	Na	Na	Het;-C	1354;51|57	Hom;-C	2517;0|82
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103908080	103908080	G	A	snp	intronic	 	 	 	 	PPRC1	Pprc1	ENSG00000148840	peroxisome proliferator-activated receptor gamma, coactivator-related 1	chr10:103892787-103910082	The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Diabetes Mellitus, Type 2|; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit letahlity post-implantation with delayed hatching and disorganized embryo tissues.	Transcriptional activation of mitochondrial biogenesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007005;mitochondrion organization;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:1903506;regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0001104;RNA polymerase II transcription cofactor activity;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003712;transcription cofactor activity;IEA|GO:0003723;RNA binding;IDA|GO:0008134;transcription factor binding;IBA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PPRC1	https://www.uniprot.org/uniprot/Q5VV67		https://www.ncbi.nlm.nih.gov/omim/?term=617462	http://www.informatics.jax.org/searchtool/Search.do?query=PPRC1&submit=Quick%0D%9167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPRC1	rs3740405	0.269968	0.3347	0.4045	1	0	0	intronic	intronic	intronic	PPRC1	PPRC1	ENSG00000148840	Na	Na	Na	Na	Na	Na	Het;G>A	391;9|19	Hom;G>A	875;0|30
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	103991381	103991381	G	A	snp	synonymous SNV	C285T	I95I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PITX3	Pitx3	ENSG00000107859	paired like homeodomain 3	chr10:103989943-104001231	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]	Autism; Schizophrenia; Alzheimer's disease ; Parkinson's disease; Parkinson's disease 	Mutations in this gene cause variable defects in many aspects of ocular development and loss of a subset of midbrain dopaminergic neurons. Observed phenotypes may include growth abnormalities, alterations in liver, lung, and bone function, and sex-specific neurobehavioral anomalies.		GO:0002088;lens development in camera-type eye;IEA|GO:0002089;lens morphogenesis in camera-type eye;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007568;aging;IEA|GO:0007626;locomotory behavior;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0010468;regulation of gene expression;IEA|GO:0014014;negative regulation of gliogenesis;IEA|GO:0030901;midbrain development;IEA|GO:0035902;response to immobilization stress;IEA|GO:0042220;response to cocaine;IEA|GO:0043278;response to morphine;IEA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048666;neuron development;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0071542;dopaminergic neuron differentiation;TAS|GO:1904313;response to methamphetamine hydrochloride;IEA|GO:1904935;positive regulation of cell proliferation in midbrain;IEA|GO:1990792;cellular response to glial cell derived neurotrophic factor;IEA	GO:0005634;nucleus;IEA|GO:0043025;neuronal cell body;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PITX3	https://www.uniprot.org/uniprot/O75364	https://hpo.jax.org/app/browse/search?q=PITX3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602669	http://www.informatics.jax.org/searchtool/Search.do?query=PITX3&submit=Quick%0D%3648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PITX3	rs2281983	0.664137	0.6632	0.6470	1	0	0	exonic	exonic	exonic	PITX3	PITX3	ENSG00000107859	synonymous SNV	synonymous SNV	unknown	PITX3:NM_005029:exon3:c.C285T:p.I95I,	PITX3:uc001kuu.1:exon3:c.C285T:p.I95I,	UNKNOWN	Het;G>A	1183;49|57	Hom;G>A	1875;0|70
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104127171	104127171	G	A	snp	intronic	 	 	 	 	GBF1	Gbf1	ENSG00000107862	golgi brefeldin A resistant guanine nucleotide exchange factor 1	chr10:104005289-104142656	This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Echocardiography; Alzheimer's disease 	 	COPI-dependent Golgi-to-ER retrograde traffic	GO:0002263;cell activation involved in immune response;IMP|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006895;Golgi to endosome transport;IMP|GO:0007030;Golgi organization;IMP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048205;COPI coating of Golgi vesicle;IMP|GO:0061162;establishment of monopolar cell polarity;IMP|GO:0070973;protein localization to endoplasmic reticulum exit site;IMP|GO:0090166;Golgi disassembly;IMP|GO:0097111;endoplasmic reticulum-Golgi intermediate compartment organization;IMP|GO:1903409;reactive oxygen species biosynthetic process;IMP|GO:1903420;protein localization to endoplasmic reticulum tubular network;IMP|GO:2000008;regulation of protein localization to cell surface;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005795;Golgi stack;IEA|GO:0005801;cis-Golgi network;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GBF1	https://www.uniprot.org/uniprot/Q92538		https://www.ncbi.nlm.nih.gov/omim/?term=603698	http://www.informatics.jax.org/searchtool/Search.do?query=GBF1&submit=Quick%0D%3649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GBF1	rs2273555	0.595847	0	0	1	0	0	intronic	intronic	intronic	GBF1	GBF1	ENSG00000107862	Na	Na	Na	Na	Na	Na	Het;G>A	542;27|26	Hom;G>A	1509;0|49
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104140350	104140350	G	A	snp	nonsynonymous SNV	G5068A	G1690S	aliphatic,neutral	polar,hydrophilic,neutral	GBF1	Gbf1	ENSG00000107862	golgi brefeldin A resistant guanine nucleotide exchange factor 1	chr10:104005289-104142656	This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Echocardiography; Alzheimer's disease 	 	COPI-dependent Golgi-to-ER retrograde traffic	GO:0002263;cell activation involved in immune response;IMP|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006895;Golgi to endosome transport;IMP|GO:0007030;Golgi organization;IMP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048205;COPI coating of Golgi vesicle;IMP|GO:0061162;establishment of monopolar cell polarity;IMP|GO:0070973;protein localization to endoplasmic reticulum exit site;IMP|GO:0090166;Golgi disassembly;IMP|GO:0097111;endoplasmic reticulum-Golgi intermediate compartment organization;IMP|GO:1903409;reactive oxygen species biosynthetic process;IMP|GO:1903420;protein localization to endoplasmic reticulum tubular network;IMP|GO:2000008;regulation of protein localization to cell surface;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005795;Golgi stack;IEA|GO:0005801;cis-Golgi network;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GBF1	https://www.uniprot.org/uniprot/Q92538		https://www.ncbi.nlm.nih.gov/omim/?term=603698	http://www.informatics.jax.org/searchtool/Search.do?query=GBF1&submit=Quick%0D%3649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GBF1	rs11191274	0.0517173	0.0941	0.0971	0.15	2	13	exonic	exonic	exonic	GBF1	GBF1	ENSG00000107862	nonsynonymous SNV	nonsynonymous SNV	unknown	GBF1:NM_001199378:exon38:c.G5068A:p.G1690S,GBF1:NM_004193:exon38:c.G5077A:p.G1693S,GBF1:NM_001199379:exon38:c.G5065A:p.G1689S,	GBF1:uc001kux.2:exon38:c.G5077A:p.G1693S,GBF1:uc001kuz.2:exon38:c.G5068A:p.G1690S,GBF1:uc001kuy.2:exon38:c.G5065A:p.G1689S,	UNKNOWN	Het;G>A	3621;118|167	Hom;G>A	4881;4|186
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104161967	104161967	T	C	snp	intronic	 	 	 	 	NFKB2	Nfkb2	ENSG00000077150	nuclear factor kappa B subunit 2	chr10:104153867-104162281	This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammation|Premature Birth; Alzheimer's disease ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Multiple Myeloma; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; atherosclerosis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; ovarian cancer; respiratory syncytial virus bronchiolitis; rheumatoid arthritis; normal variation; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; null; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; plasma HDL cholesterol (HDL-C) levels; benzene haematotoxicity; Arthritis, Rheumatoid|; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations exhibit gastric hyperplasia, enlarged lymph nodes, enhanced cytokine production by activated T cells, absence of Peyer's patches, increased susceptibility to Leishmania major, and early postnatal mortality.	TRAF6 mediated NF-kB activation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0002268;follicular dendritic cell differentiation;IEA|GO:0002467;germinal center formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006954;inflammatory response;IBA|GO:0007165;signal transduction;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IBA|GO:0007568;aging;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0034097;response to cytokine;IEA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0045087;innate immune response;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048511;rhythmic process;IEA|GO:0048536;spleen development;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0033257;Bcl3/NF-kappaB2 complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NFKB2	https://www.uniprot.org/uniprot/Q00653	https://hpo.jax.org/app/browse/search?q=NFKB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164012	http://www.informatics.jax.org/searchtool/Search.do?query=NFKB2&submit=Quick%0D%1609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKB2	rs7077329	0.692292	0.7040	0.6363	1	0	0	intronic	intronic	intronic	NFKB2	NFKB2	ENSG00000077150	Na	Na	Na	Na	Na	Na	Het;T>C	2061;87|99	Hom;T>C	4275;2|155
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104209732	104209732	T	C	snp	ncRNA_exonic	 	 	 	 	RPARP-AS1																		rs567450778	0.000199681	0	0	1	0	0	ncRNA_exonic	UTR5;UTR3	ncRNA_exonic	RPARP-AS1	LOC100505761(uc001kvp.2:c.-334T>C);C10orf95(uc001kvo.1:c.*482A>G)	ENSG00000269609	Na	Na	Na	Na	Na	Na	Het;T>C	33;7|3	Hom;T>C	137;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104229057	104229057	C	CA	indel	intronic	 	 	 	 	TMEM180	 																	rs35597970	0.391174	0	0	1	0	0	intronic	intronic	intronic	TMEM180	TMEM180	ENSG00000138111	Na	Na	Na	Na	Na	Na	Het;+A	263;3|9	Hom;+A	586;0|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104229785	104229785	C	T	snp	synonymous SNV	C204T	P68P	hydrophobic,neutral	hydrophobic,neutral	TMEM180	 																	rs41306870	0.410144	0.4942	0.4778	1	0	0	exonic	exonic	exonic	TMEM180	TMEM180	ENSG00000138111	synonymous SNV	synonymous SNV	unknown	TMEM180:NM_024789:exon4:c.C204T:p.P68P,	TMEM180:uc001kvt.3:exon4:c.C204T:p.P68P,TMEM180:uc010qqm.1:exon4:c.C204T:p.P68P,TMEM180:uc001kvs.3:exon4:c.C204T:p.P68P,TMEM180:uc001kvu.3:exon4:c.C204T:p.P68P,	UNKNOWN	Het;C>T	535;85|32	Hom;C>T	3484;3|136
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104230930	104230941	TTCGGTGCTGGG	T	indel	intronic	 	 	 	 	TMEM180	 																	rs58061354	0.410343	0	0	1	0	0	intronic	intronic	intronic	TMEM180	TMEM180	ENSG00000138111	Na	Na	Na	Na	Na	Na	Het;-TCGGTGCTGGG	569;22|16	Hom;-TCGGTGCTGGG	1315;0|30
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104231054	104231054	A	G	snp	synonymous SNV	A729G	V243V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM180	 																	rs11191295	0.410144	0.4947	0.4784	1	0	0	exonic	exonic	exonic	TMEM180	TMEM180	ENSG00000138111	synonymous SNV	synonymous SNV	unknown	TMEM180:NM_024789:exon6:c.A729G:p.V243V,	TMEM180:uc001kvt.3:exon6:c.A729G:p.V243V,TMEM180:uc010qqm.1:exon5:c.A276G:p.V92V,TMEM180:uc001kvs.3:exon5:c.A276G:p.V92V,TMEM180:uc001kvu.3:exon6:c.A729G:p.V243V,	UNKNOWN	Het;A>G	2066;65|93	Hom;A>G	2830;0|102
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104232716	104232716	G	A	snp	intronic	 	 	 	 	TMEM180	 																	rs3740415	0.410543	0.4946	0.4784	1	0	0	intronic	intronic	intronic	TMEM180	TMEM180	ENSG00000138111	Na	Na	Na	Na	Na	Na	Het;G>A	390;19|20	Hom;G>A	911;0|35
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104264107	104264107	C	T	snp	intronic	 	 	 	 	SUFU	Sufu	ENSG00000107882	SUFU negative regulator of hedgehog signaling	chr10:104263744-104393292	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Alzheimer's disease ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.	Hedgehog 'on' state	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0001843;neural tube closure;IEA|GO:0001947;heart looping;IEA|GO:0003281;ventricular septum development;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006508;proteolysis;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0035904;aorta development;IEA|GO:0042992;negative regulation of transcription factor import into nucleus;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043588;skin development;IEA|GO:0045668;negative regulation of osteoblast differentiation;TAS|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0003714;transcription corepressor activity;TAS|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IDA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SUFU	https://www.uniprot.org/uniprot/Q9UMX1	https://hpo.jax.org/app/browse/search?q=SUFU&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607035	http://www.informatics.jax.org/searchtool/Search.do?query=SUFU&submit=Quick%0D%3654ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUFU	rs2274351	0.396166	0.4795	0.4857	1	0	0	intronic	intronic	intronic	SUFU	SUFU	ENSG00000107882	Na	Na	Na	Na	Na	Na	Het;C>T	126;7|6	Hom;C>T	466;0|20
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104269217	104269217	G	A	snp	intronic	 	 	 	 	SUFU	Sufu	ENSG00000107882	SUFU negative regulator of hedgehog signaling	chr10:104263744-104393292	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Alzheimer's disease ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.	Hedgehog 'on' state	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0001843;neural tube closure;IEA|GO:0001947;heart looping;IEA|GO:0003281;ventricular septum development;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006508;proteolysis;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0035904;aorta development;IEA|GO:0042992;negative regulation of transcription factor import into nucleus;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043588;skin development;IEA|GO:0045668;negative regulation of osteoblast differentiation;TAS|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0003714;transcription corepressor activity;TAS|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IDA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SUFU	https://www.uniprot.org/uniprot/Q9UMX1	https://hpo.jax.org/app/browse/search?q=SUFU&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607035	http://www.informatics.jax.org/searchtool/Search.do?query=SUFU&submit=Quick%0D%3654ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUFU	rs2281880	0.396765	0	0	1	0	0	intronic	intronic	intronic	SUFU	SUFU	ENSG00000107882	Na	Na	Na	Na	Na	Na	Het;G>A	252;4|9	Hom;G>A	408;0|13
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104375002	104375002	C	G	snp	intronic	 	 	 	 	SUFU	Sufu	ENSG00000107882	SUFU negative regulator of hedgehog signaling	chr10:104263744-104393292	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Alzheimer's disease ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.	Hedgehog 'on' state	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0001843;neural tube closure;IEA|GO:0001947;heart looping;IEA|GO:0003281;ventricular septum development;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006508;proteolysis;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0035904;aorta development;IEA|GO:0042992;negative regulation of transcription factor import into nucleus;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043588;skin development;IEA|GO:0045668;negative regulation of osteoblast differentiation;TAS|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0003714;transcription corepressor activity;TAS|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IDA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SUFU	https://www.uniprot.org/uniprot/Q9UMX1	https://hpo.jax.org/app/browse/search?q=SUFU&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607035	http://www.informatics.jax.org/searchtool/Search.do?query=SUFU&submit=Quick%0D%3654ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUFU	rs117407459	0.0121805	0.0095	0.0153	1	0	0	intronic	intronic	intronic	SUFU	SUFU	ENSG00000107882	Na	Na	Na	Na	Na	Na	Het;C>G	889;45|42	Hom;C>G	1861;0|72
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104376946	104376946	C	T	snp	intronic	 	 	 	 	SUFU	Sufu	ENSG00000107882	SUFU negative regulator of hedgehog signaling	chr10:104263744-104393292	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Alzheimer's disease ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.	Hedgehog 'on' state	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0001843;neural tube closure;IEA|GO:0001947;heart looping;IEA|GO:0003281;ventricular septum development;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006508;proteolysis;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0035904;aorta development;IEA|GO:0042992;negative regulation of transcription factor import into nucleus;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043588;skin development;IEA|GO:0045668;negative regulation of osteoblast differentiation;TAS|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0003714;transcription corepressor activity;TAS|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IDA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SUFU	https://www.uniprot.org/uniprot/Q9UMX1	https://hpo.jax.org/app/browse/search?q=SUFU&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607035	http://www.informatics.jax.org/searchtool/Search.do?query=SUFU&submit=Quick%0D%3654ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUFU	rs78549129	0.048722	0	0	1	0	0	intronic	intronic	intronic	SUFU	SUFU	ENSG00000107882	Na	Na	Na	Na	Na	Na	Het;C>T	165;5|8	Hom;C>T	344;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104387019	104387019	T	C	snp	intronic	 	 	 	 	SUFU	Sufu	ENSG00000107882	SUFU negative regulator of hedgehog signaling	chr10:104263744-104393292	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Alzheimer's disease ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.	Hedgehog 'on' state	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0001843;neural tube closure;IEA|GO:0001947;heart looping;IEA|GO:0003281;ventricular septum development;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006508;proteolysis;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0035904;aorta development;IEA|GO:0042992;negative regulation of transcription factor import into nucleus;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043588;skin development;IEA|GO:0045668;negative regulation of osteoblast differentiation;TAS|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0003714;transcription corepressor activity;TAS|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IDA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SUFU	https://www.uniprot.org/uniprot/Q9UMX1	https://hpo.jax.org/app/browse/search?q=SUFU&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607035	http://www.informatics.jax.org/searchtool/Search.do?query=SUFU&submit=Quick%0D%3654ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUFU	rs12414407	0.719649	0.6811	0.6628	1	0	0	intronic	intronic	intronic	SUFU	SUFU	ENSG00000107882	Na	Na	Na	Na	Na	Na	Het;T>C	347;13|17	Hom;T>C	1270;0|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104403310	104403310	A	G	snp	ncRNA_exonic	 	 	 	 	AL391121.1																		rs28408682	0.594848	0	0	1	0	0	upstream	upstream	ncRNA_exonic	TRIM8	TRIM8	ENSG00000272933	Na	Na	Na	Na	Na	Na	Het;A>G	79;4|4	Hom;A>G	498;0|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104415093	104415094	CT	C	indel	intronic	 	 	 	 	TRIM8	Trim8	ENSG00000171206	tripartite motif containing 8	chr10:104404253-104418164	This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]	Alzheimer's disease ; Stroke	 	Interferon gamma signaling	GO:0010508;positive regulation of autophagy;IMP|GO:0016567;protein ubiquitination;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032897;negative regulation of viral transcription;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045087;innate immune response;IDA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902187;negative regulation of viral release from host cell;IDA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS|GO:0016605;PML body;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM8			https://www.ncbi.nlm.nih.gov/omim/?term=606125	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM8&submit=Quick%0D%12877ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM8	rs34032774	0.250599	0.3234	0.2683	1	0	0	intronic	intronic	intronic	TRIM8	TRIM8	ENSG00000171206	Na	Na	Na	Na	Na	Na	Het;-T	549;29|18	Hom;-T	1247;0|33
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104415810	104415821	GCTCTCCCTGGA	G	indel	intronic	 	 	 	 	TRIM8	Trim8	ENSG00000171206	tripartite motif containing 8	chr10:104404253-104418164	This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]	Alzheimer's disease ; Stroke	 	Interferon gamma signaling	GO:0010508;positive regulation of autophagy;IMP|GO:0016567;protein ubiquitination;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032897;negative regulation of viral transcription;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045087;innate immune response;IDA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902187;negative regulation of viral release from host cell;IDA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS|GO:0016605;PML body;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM8			https://www.ncbi.nlm.nih.gov/omim/?term=606125	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM8&submit=Quick%0D%12877ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM8	rs3217079	0	0	0	1	0	0	intronic	intronic	intronic	TRIM8	TRIM8	ENSG00000171206	Na	Na	Na	Na	Na	Na	Het;-CTCTCCCTGGA	551;28|16	Hom;-CTCTCCCTGGA	2042;0|49
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104464970	104464970	T	C	snp	intronic	 	 	 	 	ARL3	Arl3	ENSG00000138175	ADP ribosylation factor like GTPase 3	chr10:104433488-104474164	ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Coronary Artery Disease	Mice homozygous for a gene trapped allele are born at sub-Mendelian ratios, are small and sickly, fail to thrive, and die by 3 weeks of age exhibiting photoreceptor degeneration and abnormal epithelial cell proliferation and cyst formation in the kidney,liver, and pancreatic tubule structures.	Trafficking of myristoylated proteins to the cilium	GO:0000910;cytokinesis;IMP|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;IMP|GO:0007049;cell cycle;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0015031;protein transport;IEA|GO:0042073;intraciliary transport;IEA|GO:0042461;photoreceptor cell development;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005929;cilium;TAS|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0032391;photoreceptor connecting cilium;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;IDA|GO:0019003;GDP binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL3	https://www.uniprot.org/uniprot/P36405	https://hpo.jax.org/app/browse/search?q=ARL3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604695	http://www.informatics.jax.org/searchtool/Search.do?query=ARL3&submit=Quick%0D%7691ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL3	rs12784517	0.2502	0	0	1	0	0	intronic	intronic	intronic	ARL3	ARL3	ENSG00000138175	Na	Na	Na	Na	Na	Na	Het;T>C	206;3|7	Hom;T>C	126;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104465374	104465374	T	C	snp	intronic	 	 	 	 	ARL3	Arl3	ENSG00000138175	ADP ribosylation factor like GTPase 3	chr10:104433488-104474164	ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Coronary Artery Disease	Mice homozygous for a gene trapped allele are born at sub-Mendelian ratios, are small and sickly, fail to thrive, and die by 3 weeks of age exhibiting photoreceptor degeneration and abnormal epithelial cell proliferation and cyst formation in the kidney,liver, and pancreatic tubule structures.	Trafficking of myristoylated proteins to the cilium	GO:0000910;cytokinesis;IMP|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;IMP|GO:0007049;cell cycle;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0015031;protein transport;IEA|GO:0042073;intraciliary transport;IEA|GO:0042461;photoreceptor cell development;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005929;cilium;TAS|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0032391;photoreceptor connecting cilium;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;IDA|GO:0019003;GDP binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL3	https://www.uniprot.org/uniprot/P36405	https://hpo.jax.org/app/browse/search?q=ARL3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604695	http://www.informatics.jax.org/searchtool/Search.do?query=ARL3&submit=Quick%0D%7691ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL3	rs12761195	0.250399	0	0	1	0	0	intronic	intronic	intronic	ARL3	ARL3	ENSG00000138175	Na	Na	Na	Na	Na	Na	Het;T>C	162;12|6	Hom;T>C	643;0|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	104557683	104557683	A	G	snp	intronic	 	 	 	 	WBP1L	Wbp1l	ENSG00000166272	WW domain binding protein 1 like	chr10:104503727-104576021		Alzheimer's disease 	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WBP1L			https://www.ncbi.nlm.nih.gov/omim/?term=611129	http://www.informatics.jax.org/searchtool/Search.do?query=WBP1L&submit=Quick%0D%11747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP1L	rs568629601	0.000199681	0	0	1	0	0	intronic	intronic	intronic	WBP1L	WBP1L	ENSG00000166272	Na	Na	Na	Na	Na	Na	Het;A>G	158;33|10	Hom;A>G	1459;0|54
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105254565	105254567	CGT	C	indel	ncRNA_intronic	 	 	 	 	NEURL1-AS1																		rs58866516	0.86262	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NEURL1-AS1	NEURL	ENSG00000235470	Na	Na	Na	Na	Na	Na	Het;-GT	432;19|13	Hom;-GT	1078;0|25
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105271758	105271758	A	G	snp	ncRNA_exonic	 	 	 	 	NEURL1-AS1																		rs2281859	0.602636	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	NEURL1-AS1	NEURL	ENSG00000235470	Na	Na	Na	Na	Na	Na	Het;A>G	1273;68|56	Hom;A>G	4742;0|165
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105271890	105271890	T	C	snp	ncRNA_exonic	 	 	 	 	NEURL1-AS1																		rs2281858	0.5625	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	NEURL1-AS1	NEURL	ENSG00000235470	Na	Na	Na	Na	Na	Na	Het;T>C	1253;87|59	Hom;T>C	4236;2|147
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105272025	105272025	A	G	snp	ncRNA_intronic	 	 	 	 	NEURL1-AS1																		rs2986059	0.559305	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NEURL1-AS1	NEURL	ENSG00000235470	Na	Na	Na	Na	Na	Na	Het;A>G	99;7|4	Hom;A>G	229;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105275242	105275242	T	C	snp	ncRNA_intronic	 	 	 	 	NEURL1-AS1																		rs2860495	0.883387	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NEURL1-AS1	NEURL	ENSG00000235470	Na	Na	Na	Na	Na	Na	Het;T>C	683;15|24	Hom;T>C	611;1|21
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105330947	105330947	T	A	snp	intronic	 	 	 	 	NEURL1	Neurl1a	ENSG00000107954	neuralized E3 ubiquitin protein ligase 1	chr10:105253736-105352309		Platelet Aggregation; Alzheimer's disease 	Depending on the targeted mutation, homozygotes show a spectrum of conflicting phenotypes ranging from axonemal and spermatid abnormalities, male sterility and deficient lactation, to just a specific olfactory discrimination defect and ethanol hypersensitivity on motor coordination.	NOTCH2 Activation and Transmission of Signal to the Nucleus	GO:0006417;regulation of translation;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0007399;nervous system development;TAS|GO:0007420;brain development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007595;lactation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IEA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;IEA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090129;positive regulation of synapse maturation;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0097440;apical dendrite;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0045183;translation factor activity, non-nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEURL1	https://www.uniprot.org/uniprot/O76050		https://www.ncbi.nlm.nih.gov/omim/?term=603804	http://www.informatics.jax.org/searchtool/Search.do?query=NEURL1&submit=Quick%0D%3663ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL1	rs12253987	0.285942	0	0	1	0	0	intronic	intronic	intronic	NEURL1	NEURL	ENSG00000107954	Na	Na	Na	Na	Na	Na	Het;T>A	225;10|9	Hom;T>A	642;0|21
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105349816	105349816	G	A	snp	intronic	 	 	 	 	NEURL1	Neurl1a	ENSG00000107954	neuralized E3 ubiquitin protein ligase 1	chr10:105253736-105352309		Platelet Aggregation; Alzheimer's disease 	Depending on the targeted mutation, homozygotes show a spectrum of conflicting phenotypes ranging from axonemal and spermatid abnormalities, male sterility and deficient lactation, to just a specific olfactory discrimination defect and ethanol hypersensitivity on motor coordination.	NOTCH2 Activation and Transmission of Signal to the Nucleus	GO:0006417;regulation of translation;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0007399;nervous system development;TAS|GO:0007420;brain development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007595;lactation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IEA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;IEA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090129;positive regulation of synapse maturation;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0097440;apical dendrite;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0045183;translation factor activity, non-nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEURL1	https://www.uniprot.org/uniprot/O76050		https://www.ncbi.nlm.nih.gov/omim/?term=603804	http://www.informatics.jax.org/searchtool/Search.do?query=NEURL1&submit=Quick%0D%3663ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL1	rs2236211	0.40016	0	0	1	0	0	intronic	intronic	intronic	NEURL1	NEURL,SH3PXD2A	ENSG00000107954,ENSG00000107957	Na	Na	Na	Na	Na	Na	Het;G>A	422;23|21	Hom;G>A	1110;0|36
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105361816	105361816	T	G	snp	synonymous SNV	A2580C	I860I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SH3PXD2A	Sh3pxd2a	ENSG00000107957	SH3 and PX domains 2A	chr10:105348285-105615301		Metabolism; Alzheimer's disease ; Tobacco Use Disorder	Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate.	Invadopodia formation	GO:0006801;superoxide metabolic process;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0055114;oxidation-reduction process;IBA|GO:0071800;podosome assembly;IBA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0072675;osteoclast fusion;IMP	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0035091;phosphatidylinositol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SH3PXD2A	https://www.uniprot.org/uniprot/Q5TCZ1			http://www.informatics.jax.org/searchtool/Search.do?query=SH3PXD2A&submit=Quick%0D%3664ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3PXD2A	rs4918031	0.879992	0.8015	0.8214	1	0	0	exonic	exonic	exonic	SH3PXD2A	SH3PXD2A	ENSG00000107957	synonymous SNV	synonymous SNV	unknown	SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I,	SH3PXD2A:uc010qqs.1:exon8:c.A2580C:p.I860I,SH3PXD2A:uc001kxj.1:exon14:c.A3075C:p.I1025I,SH3PXD2A:uc010qqt.1:exon9:c.A2706C:p.I902I,SH3PXD2A:uc009xxn.1:exon12:c.A2580C:p.I860I,SH3PXD2A:uc010qqu.1:exon12:c.A2904C:p.I968I,	UNKNOWN	Het;T>G	1887;101|83	Hom;T>G	4086;0|142
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105362104	105362104	G	A	snp	synonymous SNV	C2292T	F764F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	SH3PXD2A	Sh3pxd2a	ENSG00000107957	SH3 and PX domains 2A	chr10:105348285-105615301		Metabolism; Alzheimer's disease ; Tobacco Use Disorder	Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate.	Invadopodia formation	GO:0006801;superoxide metabolic process;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0055114;oxidation-reduction process;IBA|GO:0071800;podosome assembly;IBA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0072675;osteoclast fusion;IMP	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0035091;phosphatidylinositol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SH3PXD2A	https://www.uniprot.org/uniprot/Q5TCZ1			http://www.informatics.jax.org/searchtool/Search.do?query=SH3PXD2A&submit=Quick%0D%3664ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3PXD2A	rs11191741	0.323083	0.2869	0.3597	1	0	0	exonic	exonic	exonic	SH3PXD2A	SH3PXD2A	ENSG00000107957	synonymous SNV	synonymous SNV	unknown	SH3PXD2A:NM_014631:exon14:c.C2787T:p.F929F,	SH3PXD2A:uc010qqs.1:exon8:c.C2292T:p.F764F,SH3PXD2A:uc001kxj.1:exon14:c.C2787T:p.F929F,SH3PXD2A:uc010qqt.1:exon9:c.C2418T:p.F806F,SH3PXD2A:uc009xxn.1:exon12:c.C2292T:p.F764F,SH3PXD2A:uc010qqu.1:exon12:c.C2616T:p.F872F,	UNKNOWN	Het;G>A	2105;84|94	Hom;G>A	4207;0|153
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105362209	105362209	T	C	snp	synonymous SNV	A2187G	K729K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SH3PXD2A	Sh3pxd2a	ENSG00000107957	SH3 and PX domains 2A	chr10:105348285-105615301		Metabolism; Alzheimer's disease ; Tobacco Use Disorder	Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate.	Invadopodia formation	GO:0006801;superoxide metabolic process;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0055114;oxidation-reduction process;IBA|GO:0071800;podosome assembly;IBA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0072675;osteoclast fusion;IMP	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0035091;phosphatidylinositol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SH3PXD2A	https://www.uniprot.org/uniprot/Q5TCZ1			http://www.informatics.jax.org/searchtool/Search.do?query=SH3PXD2A&submit=Quick%0D%3664ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3PXD2A	rs4917396	0.91254	0.8341	0.8390	1	0	0	exonic	exonic	exonic	SH3PXD2A	SH3PXD2A	ENSG00000107957	synonymous SNV	synonymous SNV	unknown	SH3PXD2A:NM_014631:exon14:c.A2682G:p.K894K,	SH3PXD2A:uc010qqs.1:exon8:c.A2187G:p.K729K,SH3PXD2A:uc001kxj.1:exon14:c.A2682G:p.K894K,SH3PXD2A:uc010qqt.1:exon9:c.A2313G:p.K771K,SH3PXD2A:uc009xxn.1:exon12:c.A2187G:p.K729K,SH3PXD2A:uc010qqu.1:exon12:c.A2511G:p.K837K,	UNKNOWN	Het;T>C	1672;76|64	Hom;T>C	4710;0|163
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105375817	105375817	T	C	snp	intronic	 	 	 	 	SH3PXD2A	Sh3pxd2a	ENSG00000107957	SH3 and PX domains 2A	chr10:105348285-105615301		Metabolism; Alzheimer's disease ; Tobacco Use Disorder	Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate.	Invadopodia formation	GO:0006801;superoxide metabolic process;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0055114;oxidation-reduction process;IBA|GO:0071800;podosome assembly;IBA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0072675;osteoclast fusion;IMP	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0035091;phosphatidylinositol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SH3PXD2A	https://www.uniprot.org/uniprot/Q5TCZ1			http://www.informatics.jax.org/searchtool/Search.do?query=SH3PXD2A&submit=Quick%0D%3664ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3PXD2A	rs3781361	0.664537	0	0	1	0	0	intronic	intronic	intronic	SH3PXD2A	SH3PXD2A	ENSG00000107957	Na	Na	Na	Na	Na	Na	Het;T>C	72;3|5	Hom;T>C	244;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105702042	105702042	T	G	snp	intergenic	 	 	 	 	STN1																		rs7074532	0.219848	0	0	1	0	0	intergenic	intergenic	intergenic	OBFC1(dist=23997),SLK(dist=24901)	OBFC1(dist=23997),SLK(dist=25428)	ENSG00000107960(dist=24079),ENSG00000065613(dist=24917)	Na	Na	Na	Na	Na	Na	Het;T>G	1413;62|67	Hom;T>G	3578;0|132
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105758670	105758670	A	G	snp	synonymous SNV	A528G	V176V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLK	Slk	ENSG00000065613	STE20 like kinase	chr10:105726959-105788991		Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis.		GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA	GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLK	https://www.uniprot.org/uniprot/Q9H2G2		https://www.ncbi.nlm.nih.gov/omim/?term=616563	http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK	rs10883960	0.167133	0.1982	0.2183	1	0	0	exonic	exonic	exonic	SLK	SLK	ENSG00000065613	synonymous SNV	synonymous SNV	unknown	SLK:NM_014720:exon5:c.A528G:p.V176V,SLK:NM_001304743:exon5:c.A528G:p.V176V,	SLK:uc001kxo.1:exon5:c.A528G:p.V176V,SLK:uc001kxp.1:exon5:c.A528G:p.V176V,	UNKNOWN	Het;A>G	1209;47|57	Hom;A>G	2828;0|104
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105763026	105763026	C	T	snp	nonsynonymous SNV	C2090T	T697I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SLK	Slk	ENSG00000065613	STE20 like kinase	chr10:105726959-105788991		Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis.		GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA	GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLK	https://www.uniprot.org/uniprot/Q9H2G2		https://www.ncbi.nlm.nih.gov/omim/?term=616563	http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK	rs3740469	0.163938	0.1949	0.2161	0.38	5	13	exonic	exonic	exonic	SLK	SLK	ENSG00000065613	nonsynonymous SNV	nonsynonymous SNV	unknown	SLK:NM_014720:exon9:c.C2090T:p.T697I,SLK:NM_001304743:exon9:c.C2090T:p.T697I,	SLK:uc001kxo.1:exon9:c.C2090T:p.T697I,SLK:uc001kxp.1:exon9:c.C2090T:p.T697I,	UNKNOWN	Het;C>T	1380;53|61	Hom;C>T	4293;0|154
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105781596	105781598	CAT	C	indel	intronic	 	 	 	 	SLK	Slk	ENSG00000065613	STE20 like kinase	chr10:105726959-105788991		Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis.		GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA	GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLK	https://www.uniprot.org/uniprot/Q9H2G2		https://www.ncbi.nlm.nih.gov/omim/?term=616563	http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK	rs35403362	0.166134	0	0	1	0	0	intronic	intronic	intronic	SLK	SLK	ENSG00000065613	Na	Na	Na	Na	Na	Na	Het;-AT	71;6|3	Hom;-AT	857;0|20
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105793750	105793750	T	C	snp	nonsynonymous SNV	A4109G	D1370G	polar,hydrophilic,charged(-)	aliphatic,neutral	COL17A1	Col17a1	ENSG00000065618	collagen type XVII alpha 1 chain	chr10:105791044-105845760	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]	kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly	Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL17A1	https://www.uniprot.org/uniprot/Q9UMD9	https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=113811	http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1	rs17116350	0.258586	0.2903	0.2482	0.15	2	13	exonic	exonic	exonic	COL17A1	COL17A1	ENSG00000065618	nonsynonymous SNV	nonsynonymous SNV	unknown	COL17A1:NM_000494:exon52:c.A4109G:p.D1370G,	COL17A1:uc001kxr.3:exon52:c.A4109G:p.D1370G,	UNKNOWN	Het;T>C	803;88|42	Hom;T>C	2653;0|97
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105815116	105815116	A	G	snp	intronic	 	 	 	 	COL17A1	Col17a1	ENSG00000065618	collagen type XVII alpha 1 chain	chr10:105791044-105845760	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]	kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly	Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL17A1	https://www.uniprot.org/uniprot/Q9UMD9	https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=113811	http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1	rs17821926	0.0996406	0.1174	0.1390	1	0	0	intronic	intronic	intronic	COL17A1	COL17A1	ENSG00000065618	Na	Na	Na	Na	Na	Na	Het;A>G	209;33|14	Hom;A>G	964;0|38
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105837202	105837202	G	A	snp	synonymous SNV	C180T	G60G	aliphatic,neutral	aliphatic,neutral	COL17A1	Col17a1	ENSG00000065618	collagen type XVII alpha 1 chain	chr10:105791044-105845760	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]	kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly	Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL17A1	https://www.uniprot.org/uniprot/Q9UMD9	https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=113811	http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1	rs760322792	0	0	9.431e-05	1	0	0	exonic	exonic	exonic	COL17A1	COL17A1	ENSG00000065618	synonymous SNV	synonymous SNV	unknown	COL17A1:NM_000494:exon4:c.C180T:p.G60G,	COL17A1:uc010qqv.1:exon4:c.C180T:p.G60G,COL17A1:uc009xxp.1:exon4:c.C180T:p.G60G,COL17A1:uc001kxr.3:exon4:c.C180T:p.G60G,	UNKNOWN	Het;G>A	430;19|22	Hom;G>A	1104;0|43
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105905161	105905161	C	T	snp	intronic	 	 	 	 	CFAP43	Cfap43	ENSG00000197748	Cilia And Flagella Associated Protein 43	chr10:105889646-105992120	This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]	ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects.					http://www.genecards.org/index.php?path=/Search/keyword/CFAP43	https://www.uniprot.org/uniprot/Q8NDM7	https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617558	http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43	rs2289964	0.152157	0	0	1	0	0	intronic	intronic	intronic	CFAP43	WDR96	ENSG00000197748	Na	Na	Na	Na	Na	Na	Het;C>T	202;12|9	Hom;C>T	378;0|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	105953623	105953623	C	T	snp	splicing	1442+1G>A	 	 	 	CFAP43	Cfap43	ENSG00000197748	Cilia And Flagella Associated Protein 43	chr10:105889646-105992120	This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]	ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects.					http://www.genecards.org/index.php?path=/Search/keyword/CFAP43	https://www.uniprot.org/uniprot/Q8NDM7	https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617558	http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43	rs767058543	0	0	1.747e-05	1.00	4	4	splicing	exonic;splicing	exonic;splicing	CFAP43(NM_025145:exon12:c.1442+1G>A)	WDR96;WDR96(uc001kxw.3:exon12:c.1442+1G>A,uc001kxx.4:exon12:c.1445+1G>A)	ENSG00000197748;ENSG00000197748(ENST00000428666:exon12:c.1445+1G>A,ENST00000357060:exon12:c.1442+1G>A,ENST00000278064:exon12:c.1235+1G>A)	Na	synonymous SNV	unknown	Na	WDR96:uc001kxy.1:exon11:c.G1446A:p.V482V,	UNKNOWN	Het;C>T	1104;52|55	Hom;C>T	3839;0|144
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	106034982	106034982	A	G	snp	splicing	35-2A>G	 	 	 	GSTO2	Gsto2	ENSG00000065621	glutathione S-transferase omega 2	chr10:106028631-106064703	The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]	Arsenic Poisoning|Cardiovascular Diseases; arsenic metabolism; breast cancer; colorectal cancer; liver cancer; Skin Diseases; chronic obstructive pulmonary disease; Parkinsons disease; Carcinoma|Urologic Neoplasms; skin cancer, non-melanoma; Breast Neoplasms|Mammary Neoplasms; Carcinoma, Hepatocellular|Liver Neoplasms; ovarian cancer; cognitive trait; longevity; Parkinson's disease; lung cancer; Tobacco Use Disorder; Alzheimer's disease ; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Huntington's disease; normal variation; Bladder Neoplasm|Kidney Neoplasms|Ureteral Neoplasms|Urinary Bladder Neoplasms; Alzheimer's Disease; Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Arsenic Poisoning; Respiratory Function Tests; asthma; breast cancer; Aging/ Telomere Length; Amyotrophic Lateral Sclerosis|	 	Vitamin C (ascorbate) metabolism	GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0019852;L-ascorbic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IDA|GO:0071243;cellular response to arsenic-containing substance;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004364;glutathione transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IDA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0045174;glutathione dehydrogenase (ascorbate) activity;TAS|GO:0050610;methylarsonate reductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSTO2	https://www.uniprot.org/uniprot/Q9H4Y5		https://www.ncbi.nlm.nih.gov/omim/?term=612314	http://www.informatics.jax.org/searchtool/Search.do?query=GSTO2&submit=Quick%0D%1188ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTO2	rs151042116	0.000199681	0	0.0002	1.00	4	4	splicing	splicing	splicing	GSTO2(NM_001191013:exon3:c.35-2A>G,NM_183239:exon3:c.35-2A>G)	GSTO2(uc001kyb.3:exon3:c.35-2A>G,uc010qqx.2:exon3:c.35-2A>G,uc010qqw.1:exon2:c.35-2A>G)	ENSG00000065621(ENST00000450629:exon3:c.35-2A>G,ENST00000338595:exon3:c.35-2A>G,ENST00000401888:exon2:c.35-2A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	826;54|39	Hom;A>G	2665;2|102
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	106160731	106160731	T	C	snp	intronic	 	 	 	 	CFAP58	Cfap58																	rs41317250	0.125	0	0	1	0	0	intronic	intronic	intronic	CFAP58	CCDC147	ENSG00000120051	Na	Na	Na	Na	Na	Na	Het;T>C	168;5|9	Hom;T>C	412;0|14
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	106398315	106398315	G	A	snp	intergenic	 	 	 	 	AL161646.2																		rs998300	0.684704	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927523(dist=158282),SORCS3(dist=2544)	CCDC147(dist=183467),SORCS3(dist=2544)	ENSG00000237761(dist=21584),ENSG00000156395(dist=2544)	Na	Na	Na	Na	Na	Na	Het;G>A	206;6|9	Hom;G>A	305;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	106425725	106425725	T	G	snp	ncRNA_exonic	 	 	 	 	SORCS3-AS1																		rs11544077	0.0179712	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SORCS3-AS1	BC042079	ENSG00000226387	Na	Na	Na	Na	Na	Na	Het;T>G	2418;113|106	Hom;T>G	6920;0|240
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	106916819	106916819	G	A	snp	intronic	 	 	 	 	SORCS3	Sorcs3	ENSG00000156395	sortilin related VPS10 domain containing receptor 3	chr10:106400859-107024993	This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]	Alzheimer's disease ; Hemoglobins; Coronary Disease; Cell Adhesion Molecules; Metabolism; Hemoglobin A, Glycosylated; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit absent NMDA and glutamate receptor-dependent long term depression, impaired spatial learning and memory and impaired fear memory.		GO:0007218;neuropeptide signaling pathway;NAS|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:1900452;regulation of long term synaptic depression;IEA	GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS3	https://www.uniprot.org/uniprot/Q9UPU3		https://www.ncbi.nlm.nih.gov/omim/?term=606285	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS3&submit=Quick%0D%9974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS3	rs2297500	0.368211	0	0	1	0	0	intronic	intronic	intronic	SORCS3	SORCS3	ENSG00000156395	Na	Na	Na	Na	Na	Na	Het;G>A	389;3|17	Hom;G>A	732;0|26
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	108427682	108427683	CA	C	indel	intronic	 	 	 	 	SORCS1	Sorcs1	ENSG00000108018	sortilin related VPS10 domain containing receptor 1	chr10:108333421-108924292	This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate	Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain.	Insulin processing	GO:0007218;neuropeptide signaling pathway;NAS	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS1	https://www.uniprot.org/uniprot/Q8WY21		https://www.ncbi.nlm.nih.gov/omim/?term=606283	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1	rs398014732	0.857628	0	0	1	0	0	intronic	intronic	intronic	SORCS1	SORCS1	ENSG00000108018	Na	Na	Na	Na	Na	Na	Het;-A	109;2|7	Hom;-A	111;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	108974259	108974259	T	C	snp	intergenic	 	 	 	 	SORCS1	Sorcs1	ENSG00000108018	sortilin related VPS10 domain containing receptor 1	chr10:108333421-108924292	This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate	Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain.	Insulin processing	GO:0007218;neuropeptide signaling pathway;NAS	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS1	https://www.uniprot.org/uniprot/Q8WY21		https://www.ncbi.nlm.nih.gov/omim/?term=606283	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1	rs7098413	0.438498	0	0	1	0	0	intergenic	intergenic	intergenic	SORCS1(dist=49793),LINC01435(dist=657076)	SORCS1(dist=49793),7SK(dist=1726468)	ENSG00000108018(dist=49967),ENSG00000200079(dist=247059)	Na	Na	Na	Na	Na	Na	Het;T>C	257;14|12	Hom;T>C	1136;0|39
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	109174443	109174443	T	C	snp	intergenic	 	 	 	 	SORCS1	Sorcs1	ENSG00000108018	sortilin related VPS10 domain containing receptor 1	chr10:108333421-108924292	This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate	Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain.	Insulin processing	GO:0007218;neuropeptide signaling pathway;NAS	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS1	https://www.uniprot.org/uniprot/Q8WY21		https://www.ncbi.nlm.nih.gov/omim/?term=606283	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1	rs35382548	0.262181	0	0	1	0	0	intergenic	intergenic	intergenic	SORCS1(dist=249977),LINC01435(dist=456892)	SORCS1(dist=249977),7SK(dist=1526284)	ENSG00000108018(dist=250151),ENSG00000200079(dist=46875)	Na	Na	Na	Na	Na	Na	Het;T>C	259;8|8	Hom;T>C	436;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	110479297	110479298	AG	A	indel	ncRNA_intronic	 	 	 	 	AL356476.1																		rs398097200	0.179113	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01435(dist=650246),RNU6-53P(dist=451117)	SORCS1(dist=1554831),7SK(dist=221429)	ENSG00000223381	Na	Na	Na	Na	Na	Na	Het;-G	67;5|4	Hom;-G	192;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111667664	111667664	T	C	snp	intronic	 	 	 	 	XPNPEP1	Xpnpep1	ENSG00000108039	X-prolyl aminopeptidase 1	chr10:111624524-111683311	This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]	Biliary Atresia; Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit pre and postnatal lethality, reduced male survival, growth retardation with decreased body weight, size and length, microcephaly and peptiduria.		GO:0006508;proteolysis;IEA|GO:0010815;bradykinin catabolic process;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/XPNPEP1	https://www.uniprot.org/uniprot/Q9NQW7		https://www.ncbi.nlm.nih.gov/omim/?term=602443	http://www.informatics.jax.org/searchtool/Search.do?query=XPNPEP1&submit=Quick%0D%3673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XPNPEP1	rs944969	0.689696	0	0	1	0	0	intronic	intronic	intronic	XPNPEP1	XPNPEP1	ENSG00000108039	Na	Na	Na	Na	Na	Na	Het;T>C	95;7|4	Hom;T>C	106;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111705895	111705895	A	G	snp	ncRNA_exonic	 	 	 	 	ADD3-AS1																		rs975442	0.322085	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	ADD3-AS1	LOC100505933	ENSG00000203876(ENST00000369655:c.*182T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	3109;122|136	Hom;A>G	7647;4|265
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111765659	111765659	C	T	snp	UTR5	-94753C>T	 	 	 	ADD3	Add3	ENSG00000148700	adducin 3	chr10:111756126-111895323	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Endolymphatic Hydrops|Meniere Disease; Macular Degeneration; arterial stiffness; null; Hypertension; hypertension; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function.	Miscellaneous transport and binding events	GO:0007010;cytoskeleton organization;IEA|GO:0055085;transmembrane transport;TAS	GO:0000794;condensed nuclear chromosome;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;TAS	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADD3	https://www.uniprot.org/uniprot/Q9UEY8	https://hpo.jax.org/app/browse/search?q=ADD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601568	http://www.informatics.jax.org/searchtool/Search.do?query=ADD3&submit=Quick%0D%9149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADD3	rs111475163	0.0061901	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	UTR5	ADD3-AS1	LOC100505933	ENSG00000148700(ENST00000360162:c.-94753C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	149;6|7	Hom;C>T	600;0|20
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111768151	111768151	T	C	snp	intronic	 	 	 	 	ADD3	Add3	ENSG00000148700	adducin 3	chr10:111756126-111895323	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Endolymphatic Hydrops|Meniere Disease; Macular Degeneration; arterial stiffness; null; Hypertension; hypertension; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function.	Miscellaneous transport and binding events	GO:0007010;cytoskeleton organization;IEA|GO:0055085;transmembrane transport;TAS	GO:0000794;condensed nuclear chromosome;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;TAS	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADD3	https://www.uniprot.org/uniprot/Q9UEY8	https://hpo.jax.org/app/browse/search?q=ADD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601568	http://www.informatics.jax.org/searchtool/Search.do?query=ADD3&submit=Quick%0D%9149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADD3	rs7076609	0.358427	0	0	1	0	0	intronic	intronic	intronic	ADD3	ADD3	ENSG00000148700	Na	Na	Na	Na	Na	Na	Het;T>C	587;24|29	Hom;T>C	1746;0|63
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111878510	111878510	T	G	snp	intronic	 	 	 	 	ADD3	Add3	ENSG00000148700	adducin 3	chr10:111756126-111895323	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Endolymphatic Hydrops|Meniere Disease; Macular Degeneration; arterial stiffness; null; Hypertension; hypertension; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function.	Miscellaneous transport and binding events	GO:0007010;cytoskeleton organization;IEA|GO:0055085;transmembrane transport;TAS	GO:0000794;condensed nuclear chromosome;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;TAS	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADD3	https://www.uniprot.org/uniprot/Q9UEY8	https://hpo.jax.org/app/browse/search?q=ADD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601568	http://www.informatics.jax.org/searchtool/Search.do?query=ADD3&submit=Quick%0D%9149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADD3	rs12268910	0.475839	0.3705	0.2936	1	0	0	intronic	intronic	intronic	ADD3	ADD3	ENSG00000148700	Na	Na	Na	Na	Na	Na	Het;T>G	575;40|30	Hom;T>G	1679;0|55
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111886089	111886089	G	A	snp	intronic	 	 	 	 	ADD3	Add3	ENSG00000148700	adducin 3	chr10:111756126-111895323	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Endolymphatic Hydrops|Meniere Disease; Macular Degeneration; arterial stiffness; null; Hypertension; hypertension; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function.	Miscellaneous transport and binding events	GO:0007010;cytoskeleton organization;IEA|GO:0055085;transmembrane transport;TAS	GO:0000794;condensed nuclear chromosome;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;TAS	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADD3	https://www.uniprot.org/uniprot/Q9UEY8	https://hpo.jax.org/app/browse/search?q=ADD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601568	http://www.informatics.jax.org/searchtool/Search.do?query=ADD3&submit=Quick%0D%9149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADD3	rs3731566	0.856629	0	0	1	0	0	intronic	intronic	intronic	ADD3	ADD3	ENSG00000148700	Na	Na	Na	Na	Na	Na	Het;G>A	157;8|6	Hom;G>A	281;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111890362	111890362	C	A	snp	intronic	 	 	 	 	ADD3	Add3	ENSG00000148700	adducin 3	chr10:111756126-111895323	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Endolymphatic Hydrops|Meniere Disease; Macular Degeneration; arterial stiffness; null; Hypertension; hypertension; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function.	Miscellaneous transport and binding events	GO:0007010;cytoskeleton organization;IEA|GO:0055085;transmembrane transport;TAS	GO:0000794;condensed nuclear chromosome;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;TAS	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADD3	https://www.uniprot.org/uniprot/Q9UEY8	https://hpo.jax.org/app/browse/search?q=ADD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601568	http://www.informatics.jax.org/searchtool/Search.do?query=ADD3&submit=Quick%0D%9149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADD3	rs13306109	0.21266	0	0	1	0	0	intronic	intronic	intronic	ADD3	ADD3	ENSG00000148700	Na	Na	Na	Na	Na	Na	Het;C>A	395;6|16	Hom;C>A	140;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	111930461	111930461	C	T	snp	intergenic	 	 	 	 	SNRPGP12																		rs56387600	0.104233	0	0	1	0	0	intergenic	intergenic	intergenic	ADD3(dist=35138),MXI1(dist=36902)	ADD3(dist=35138),MXI1(dist=36902)	ENSG00000226734(dist=31277),ENSG00000119950(dist=36902)	Na	Na	Na	Na	Na	Na	Het;C>T	384;15|20	Hom;C>T	733;0|31
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112337693	112337693	T	A	snp	intronic	 	 	 	 	SMC3	Smc3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3	rs11195194	0.141973	0.0502	0.1515	1	0	0	intronic	intronic	intronic	SMC3	SMC3	ENSG00000108055	Na	Na	Na	Na	Na	Na	Het;T>A	614;38|34	Hom;T>A	1731;0|69
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112341535	112341535	T	G	snp	intronic	 	 	 	 	SMC3	Smc3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3	rs11195198	0.147963	0	0	1	0	0	intronic	intronic	intronic	SMC3	SMC3	ENSG00000108055	Na	Na	Na	Na	Na	Na	Het;T>G	110;7|6	Hom;T>G	507;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112341636	112341636	A	C	snp	intronic	 	 	 	 	SMC3	Smc3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3	rs2275570	0.148163	0.0965	0.1494	1	0	0	intronic	intronic	intronic	SMC3	SMC3	ENSG00000108055	Na	Na	Na	Na	Na	Na	Het;A>C	638;16|26	Hom;A>C	1426;0|48
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112343591	112343591	G	A	snp	intronic	 	 	 	 	SMC3	Smc3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3	rs11195199	0.148163	0.0973	0.1490	1	0	0	intronic	intronic	intronic	SMC3	SMC3	ENSG00000108055	Na	Na	Na	Na	Na	Na	Het;G>A	477;17|20	Hom;G>A	731;0|26
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112343923	112343923	T	C	snp	intronic	 	 	 	 	SMC3	Smc3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3	rs11195200	0.148163	0.0981	0.1489	1	0	0	intronic	intronic	intronic	SMC3	SMC3	ENSG00000108055	Na	Na	Na	Na	Na	Na	Het;T>C	1384;65|61	Hom;T>C	2213;0|79
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112360105	112360105	A	G	snp	intronic	 	 	 	 	SMC3	Smc3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3	rs3737292	0.149161	0	0	1	0	0	intronic	intronic	intronic	SMC3	SMC3	ENSG00000108055	Na	Na	Na	Na	Na	Na	Het;A>G	499;7|20	Hom;A>G	666;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112360936	112360936	A	G	snp	intronic	 	 	 	 	SMC3	Smc3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3	rs11195213	0.148962	0.0976	0.1514	1	0	0	intronic	intronic	intronic	SMC3	SMC3	ENSG00000108055	Na	Na	Na	Na	Na	Na	Het;A>G	480;43|24	Hom;A>G	1313;0|45
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112557514	112557514	C	T	snp	intronic	 	 	 	 	RBM20	Rbm20	ENSG00000203867	RNA binding motif protein 20	chr10:112404155-112599227	This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]	Tobacco Use Disorder; Blood Pressure	Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism.		GO:0006397;mRNA processing;IEA|GO:0007507;heart development;IMP|GO:0008380;RNA splicing;IEA|GO:0033120;positive regulation of RNA splicing;IMP	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM20		https://hpo.jax.org/app/browse/search?q=RBM20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613171	http://www.informatics.jax.org/searchtool/Search.do?query=RBM20&submit=Quick%0D%17155ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM20	rs6585014	0.242013	0	0	1	0	0	intronic	intronic	intronic	RBM20	RBM20	ENSG00000203867	Na	Na	Na	Na	Na	Na	Het;C>T	166;7|8	Hom;C>T	539;0|19
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112595719	112595719	G	C	snp	nonsynonymous SNV	G3667C	E1223Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	RBM20	Rbm20	ENSG00000203867	RNA binding motif protein 20	chr10:112404155-112599227	This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]	Tobacco Use Disorder; Blood Pressure	Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism.		GO:0006397;mRNA processing;IEA|GO:0007507;heart development;IMP|GO:0008380;RNA splicing;IEA|GO:0033120;positive regulation of RNA splicing;IMP	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM20		https://hpo.jax.org/app/browse/search?q=RBM20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613171	http://www.informatics.jax.org/searchtool/Search.do?query=RBM20&submit=Quick%0D%17155ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM20	rs942077	0.697085	0.7584	0.7637	0.58	7	12	exonic	exonic	exonic	RBM20	RBM20	ENSG00000203867	nonsynonymous SNV	nonsynonymous SNV	unknown	RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q,	RBM20:uc001kzf.2:exon14:c.G3667C:p.E1223Q,	UNKNOWN	Het;G>C	844;51|37	Hom;G>C	1971;0|76
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112629929	112629929	T	C	snp	ncRNA_exonic	 	 	 	 	PDCD4-AS1																		rs17128095	0.0794728	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PDCD4-AS1	PDCD4-AS1	ENSG00000203497	Na	Na	Na	Na	Na	Na	Het;T>C	1482;65|66	Hom;T>C	4142;1|150
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	112658027	112658027	T	C	snp	UTR3	*181T>C	 	 	 	PDCD4	Pdcd4	ENSG00000150593	programmed cell death 4	chr10:112631565-112659764	This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]	Alzheimer's disease ; longevity	Mice homozygous for a null allele have a higher prevalence of B cell derived lymphomas, multi-organ cysts and decreased susceptibility to experimentally induced autoimmune encephalomyelitis and type 1 diabetes.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0006915;apoptotic process;TAS|GO:0007569;cell aging;IDA|GO:0030509;BMP signaling pathway;IDA|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;ISS|GO:0045786;negative regulation of cell cycle;NAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051246;regulation of protein metabolic process;IEA|GO:0060940;epithelial to mesenchymal transition involved in cardiac fibroblast development;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IEA|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1904761;negative regulation of myofibroblast differentiation;IMP|GO:1905064;negative regulation of vascular smooth muscle cell differentiation;IDA|GO:2000353;positive regulation of endothelial cell apoptotic process;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD4	https://www.uniprot.org/uniprot/Q53EL6		https://www.ncbi.nlm.nih.gov/omim/?term=608610	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD4&submit=Quick%0D%9329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD4	rs1052550	0.0792732	0	0	1	0	0	UTR3	UTR3	UTR3	PDCD4(NM_014456:c.*181T>C,NM_145341:c.*181T>C,NM_001199492:c.*181T>C)	PDCD4(uc001kzg.3:c.*181T>C,uc001kzh.3:c.*181T>C,uc010qre.2:c.*181T>C)	ENSG00000150593(ENST00000280154:c.*181T>C,ENST00000393104:c.*181T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	277;11|10	Hom;T>C	587;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113539194	113539194	C	T	snp	intergenic	 	 	 	 	RPS6P15																		rs1361142	0.343251	0	0	1	0	0	intergenic	intergenic	intergenic	ADRA2A(dist=698532),GPAM(dist=370428)	ADRA2A(dist=698532),GPAM(dist=370428)	ENSG00000230809(dist=280495),ENSG00000119927(dist=370430)	Na	Na	Na	Na	Na	Na	Het;C>T	111;8|7	Hom;C>T	576;2|25
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113913222	113913222	T	C	snp	UTR3	*86A>G	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs2297991	0.730631	0	0	1	0	0	UTR3	UTR3	UTR3	GPAM(NM_020918:c.*86A>G,NM_001244949:c.*86A>G)	GPAM(uc009xxy.2:c.*86A>G,uc001kzp.3:c.*86A>G)	ENSG00000119927(ENST00000348367:c.*86A>G,ENST00000423155:c.*86A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	77;4|4	Hom;T>C	306;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113916835	113916835	A	C	snp	UTR3	*160T>G	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs2254532	0.757987	0	0	1	0	0	intronic	UTR3	UTR3	GPAM	GPAM(uc001kzq.1:c.*160T>G)	ENSG00000119927(ENST00000369425:c.*160T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	39;2|2	Hom;A>C	133;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113916977	113916977	A	G	snp	UTR3	*18T>C	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs143981414	0.00139776	0.0033	0.0033	1	0	0	intronic	UTR3	UTR3	GPAM	GPAM(uc001kzq.1:c.*18T>C)	ENSG00000119927(ENST00000369425:c.*18T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1025;62|47	Hom;A>G	2558;0|90
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113917085	113917085	T	A	snp	synonymous SNV	A2043T	P681P	hydrophobic,neutral	hydrophobic,neutral	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs2254537	0.757588	0.7212	0.7256	1	0	0	exonic	exonic	exonic	GPAM	GPAM	ENSG00000119927	synonymous SNV	synonymous SNV	unknown	GPAM:NM_001244949:exon19:c.A2043T:p.P681P,GPAM:NM_020918:exon19:c.A2043T:p.P681P,	GPAM:uc001kzq.1:exon19:c.A2043T:p.P681P,GPAM:uc001kzp.3:exon19:c.A2043T:p.P681P,GPAM:uc009xxy.2:exon19:c.A2043T:p.P681P,	UNKNOWN	Het;T>A	1571;85|77	Hom;T>A	3650;0|132
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113920465	113920465	G	A	snp	synonymous SNV	C1656T	N552N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs2277207	0.553514	0.5584	0.5660	1	0	0	exonic	exonic	exonic	GPAM	GPAM	ENSG00000119927	synonymous SNV	synonymous SNV	unknown	GPAM:NM_001244949:exon16:c.C1656T:p.N552N,GPAM:NM_020918:exon16:c.C1656T:p.N552N,	GPAM:uc001kzq.1:exon16:c.C1656T:p.N552N,GPAM:uc001kzp.3:exon16:c.C1656T:p.N552N,GPAM:uc009xxy.2:exon16:c.C1656T:p.N552N,	UNKNOWN	Het;G>A	456;31|25	Hom;G>A	1550;0|58
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113920652	113920652	T	C	snp	intronic	 	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs3824626	0.554113	0.5591	0.5683	1	0	0	intronic	intronic	intronic	GPAM	GPAM	ENSG00000119927	Na	Na	Na	Na	Na	Na	Het;T>C	128;6|6	Hom;T>C	565;0|21
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113921354	113921354	G	A	snp	intronic	 	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs2250802	0.809704	0	0	1	0	0	intronic	intronic	intronic	GPAM	GPAM	ENSG00000119927	Na	Na	Na	Na	Na	Na	Het;G>A	261;15|13	Hom;G>A	532;0|19
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113923595	113923595	C	G	snp	intronic	 	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs10736219	0.553115	0.5567	0.5713	1	0	0	intronic	intronic	intronic	GPAM	GPAM	ENSG00000119927	Na	Na	Na	Na	Na	Na	Het;C>G	1260;59|58	Hom;C>G	2657;0|96
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113926012	113926012	G	A	snp	intronic	 	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs10749108	0.553514	0	0	1	0	0	intronic	intronic	intronic	GPAM	GPAM	ENSG00000119927	Na	Na	Na	Na	Na	Na	Het;G>A	67;1|3	Hom;G>A	117;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113926415	113926415	T	C	snp	intronic	 	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs10749109	0.539337	0	0	1	0	0	intronic	intronic	intronic	GPAM	GPAM	ENSG00000119927	Na	Na	Na	Na	Na	Na	Het;T>C	152;6|4	Hom;T>C	741;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113926417	113926417	A	T	snp	intronic	 	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs10749110	0.539137	0	0	1	0	0	intronic	intronic	intronic	GPAM	GPAM	ENSG00000119927	Na	Na	Na	Na	Na	Na	Het;A>T	152;6|5	Hom;A>T	741;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113928487	113928487	A	C	snp	intronic	 	 	 	 	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs2251579	0.583067	0	0	1	0	0	intronic	intronic	intronic	GPAM	GPAM	ENSG00000119927	Na	Na	Na	Na	Na	Na	Het;A>C	46;2|3	Hom;A>C	170;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113935379	113935379	T	C	snp	nonsynonymous SNV	A392G	E131G	polar,hydrophilic,charged(-)	aliphatic,neutral	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs10787428	0.554712	0.5593	0.5667	0.69	9	13	exonic	exonic	exonic	GPAM	GPAM	ENSG00000119927	nonsynonymous SNV	nonsynonymous SNV	unknown	GPAM:NM_001244949:exon6:c.A392G:p.E131G,GPAM:NM_020918:exon6:c.A392G:p.E131G,	GPAM:uc001kzq.1:exon6:c.A392G:p.E131G,GPAM:uc001kzp.3:exon6:c.A392G:p.E131G,GPAM:uc009xxy.2:exon6:c.A392G:p.E131G,	UNKNOWN	Het;T>C	477;34|21	Hom;T>C	1815;0|62
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	113940329	113940329	T	C	snp	nonsynonymous SNV	A127G	I43V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GPAM	Gpam	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM	rs2792751	0.806909	0.7809	0.7428	0.08	1	13	exonic	exonic	exonic	GPAM	GPAM	ENSG00000119927	nonsynonymous SNV	nonsynonymous SNV	unknown	GPAM:NM_001244949:exon4:c.A127G:p.I43V,GPAM:NM_020918:exon4:c.A127G:p.I43V,	GPAM:uc001kzq.1:exon4:c.A127G:p.I43V,GPAM:uc001kzp.3:exon4:c.A127G:p.I43V,GPAM:uc009xxy.2:exon4:c.A127G:p.I43V,	UNKNOWN	Het;T>C	422;25|22	Hom;T>C	1453;0|55
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114059330	114059340	TCTCTGTTTTC	T	indel	intronic	 	 	 	 	TECTB	Tectb	ENSG00000119913	tectorin beta	chr10:114043493-114064793	This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for a null allele show an enlarged tectorial membrane with a disrupted striated-sheet matrix, absence of the marginal band, and low-frequency hearing loss. However, basilar-membrane and neural tuning are both enhanced in high-frequency cochlear regions, with little loss in sensitivity.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TECTB	https://www.uniprot.org/uniprot/Q96PL2		https://www.ncbi.nlm.nih.gov/omim/?term=602653	http://www.informatics.jax.org/searchtool/Search.do?query=TECTB&submit=Quick%0D%5134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TECTB	rs11279253	0.649161	0.5814	0.5829	1	0	0	intronic	intronic	intronic	TECTB	TECTB	ENSG00000119913	Na	Na	Na	Na	Na	Na	Het;-CTCTGTTTTC	1020;12|26	Hom;-CTCTGTTTTC	2065;0|47
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114067862	114067862	C	T	snp	downstream	 	 	 	 	GUCY2GP																		rs2148490	0.425719	0	0	1	0	0	downstream	downstream	downstream	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;C>T	265;9|12	Hom;C>T	840;0|31
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114068057	114068057	A	G	snp	ncRNA_intronic	 	 	 	 	GUCY2GP																		rs12248581	0.415735	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;A>G	507;53|27	Hom;A>G	2431;0|88
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114071068	114071068	G	T	snp	ncRNA_intronic	 	 	 	 	GUCY2GP																		rs11195886	0.429513	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;G>T	218;16|7	Hom;G>T	876;0|21
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114071074	114071074	A	G	snp	ncRNA_intronic	 	 	 	 	GUCY2GP																		rs10885328	0.429712	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;A>G	230;12|7	Hom;A>G	841;0|19
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114072091	114072091	A	C	snp	ncRNA_exonic	 	 	 	 	GUCY2GP																		rs10885329	0.546925	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;A>C	514;40|25	Hom;A>C	1238;0|46
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114072144	114072144	C	A	snp	ncRNA_exonic	 	 	 	 	GUCY2GP																		rs10885330	0.420327	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;C>A	458;45|25	Hom;C>A	1679;0|65
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114073962	114073962	T	C	snp	ncRNA_intronic	 	 	 	 	GUCY2GP																		rs11195889	0.527756	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;T>C	34;6|3	Hom;T>C	270;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114074086	114074086	G	A	snp	ncRNA_exonic	 	 	 	 	GUCY2GP																		rs56798641	0.415535	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;G>A	1325;90|39	Hom;G>A	3233;1|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114074087	114074087	A	T	snp	ncRNA_exonic	 	 	 	 	GUCY2GP																		rs60335838	0.415535	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;A>T	1325;90|39	Hom;A>T	3233;1|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114074181	114074181	T	G	snp	ncRNA_exonic	 	 	 	 	GUCY2GP																		rs7076400	0.602436	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;T>G	693;44|36	Hom;T>G	1001;0|35
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114075199	114075199	A	G	snp	ncRNA_exonic	 	 	 	 	GUCY2GP																		rs1887136	0.527756	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;A>G	1049;47|49	Hom;A>G	2022;0|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114075364	114075364	G	A	snp	ncRNA_intronic	 	 	 	 	GUCY2GP																		rs4918736	0.416134	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;G>A	40;10|3	Hom;G>A	199;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114098703	114098703	C	G	snp	ncRNA_intronic	 	 	 	 	GUCY2GP																		rs10787441	0.509984	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	GUCY2GP	GUCY2GP	ENSG00000243316	Na	Na	Na	Na	Na	Na	Het;C>G	139;6|5	Hom;C>G	503;0|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114136349	114136349	G	C	snp	intronic	 	 	 	 	ACSL5	Acsl5	ENSG00000197142	acyl-CoA synthetase long chain family member 5	chr10:114133776-114188138	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; weight loss; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Homozygous mutant mice exhibit decreased mean bone mineral content and density measurements when compared with controls. A notably decreased mean platelet count is also observed.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL5			https://www.ncbi.nlm.nih.gov/omim/?term=605677	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL5&submit=Quick%0D%16557ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL5	rs2277208	0.507788	0	0	1	0	0	intronic	intronic	intronic	ACSL5	ACSL5	ENSG00000197142	Na	Na	Na	Na	Na	Na	Het;G>C	231;14|10	Hom;G>C	448;0|14
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114192285	114192285	G	A	snp	intronic	 	 	 	 	ZDHHC6	Zdhhc6	ENSG00000023041	zinc finger DHHC-type containing 6	chr10:114190058-114206672		Tobacco Use Disorder	 		GO:0018345;protein palmitoylation;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC6	https://www.uniprot.org/uniprot/Q9H6R6			http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC6&submit=Quick%0D%677ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC6	rs2306158	0.352835	0.2615	0.3788	1	0	0	intronic	intronic	intronic	ZDHHC6	ZDHHC6	ENSG00000023041	Na	Na	Na	Na	Na	Na	Het;G>A	1139;63|56	Hom;G>A	3087;1|114
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114197982	114197982	A	T	snp	intronic	 	 	 	 	ZDHHC6	Zdhhc6	ENSG00000023041	zinc finger DHHC-type containing 6	chr10:114190058-114206672		Tobacco Use Disorder	 		GO:0018345;protein palmitoylation;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC6	https://www.uniprot.org/uniprot/Q9H6R6			http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC6&submit=Quick%0D%677ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC6	rs3736059	0.517772	0	0	1	0	0	intronic	intronic	intronic	ZDHHC6	ZDHHC6	ENSG00000023041	Na	Na	Na	Na	Na	Na	Het;A>T	68;2|3	Hom;A>T	191;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114200355	114200355	G	A	snp	synonymous SNV	C618T	T206T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZDHHC6	Zdhhc6	ENSG00000023041	zinc finger DHHC-type containing 6	chr10:114190058-114206672		Tobacco Use Disorder	 		GO:0018345;protein palmitoylation;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC6	https://www.uniprot.org/uniprot/Q9H6R6			http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC6&submit=Quick%0D%677ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC6	rs2306159	0.513978	0.5122	0.5671	1	0	0	exonic	exonic	exonic	ZDHHC6	ZDHHC6	ENSG00000023041	synonymous SNV	synonymous SNV	unknown	ZDHHC6:NM_022494:exon5:c.C618T:p.T206T,ZDHHC6:NM_001303134:exon5:c.C606T:p.T202T,	ZDHHC6:uc009xya.1:exon5:c.C618T:p.T206T,ZDHHC6:uc001kzv.3:exon5:c.C618T:p.T206T,ZDHHC6:uc001kzw.3:exon5:c.C606T:p.T202T,	UNKNOWN	Het;G>A	996;44|46	Hom;G>A	2425;2|91
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114202219	114202219	C	T	snp	intronic	 	 	 	 	ZDHHC6	Zdhhc6	ENSG00000023041	zinc finger DHHC-type containing 6	chr10:114190058-114206672		Tobacco Use Disorder	 		GO:0018345;protein palmitoylation;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC6	https://www.uniprot.org/uniprot/Q9H6R6			http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC6&submit=Quick%0D%677ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC6	rs11195961	0.513578	0	0	1	0	0	intronic	intronic	intronic	ZDHHC6	ZDHHC6	ENSG00000023041	Na	Na	Na	Na	Na	Na	Het;C>T	62;3|3	Hom;C>T	149;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114206754	114206754	G	C	snp	upstream	 	 	 	 	VTI1A	Vti1a	ENSG00000151532	vesicle transport through interaction with t-SNAREs 1A	chr10:114206756-114578503	The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease ; Heart Function Tests; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Lipoproteins, LDL; Coronary Disease|Coronary heart disease|Myocardial Infarction; Prostatic Neoplasms	Mice homozygous for a knock-out allele are viable and fertile.	Retrograde transport at the Trans-Golgi-Network	GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0006896;Golgi to vacuole transport;IBA|GO:0006914;autophagy;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0048280;vesicle fusion with Golgi apparatus;IBA|GO:0050882;voluntary musculoskeletal movement;IMP|GO:0090161;Golgi ribbon formation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;ISS|GO:0005776;autophagosome;IDA|GO:0005789;endoplasmic reticulum membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0008021;synaptic vesicle;ISS|GO:0012507;ER to Golgi transport vesicle membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;ISS|GO:0031201;SNARE complex;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IBA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043025;neuronal cell body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044306;neuron projection terminus;ISS|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VTI1A	https://www.uniprot.org/uniprot/Q96AJ9		https://www.ncbi.nlm.nih.gov/omim/?term=614316	http://www.informatics.jax.org/searchtool/Search.do?query=VTI1A&submit=Quick%0D%9434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VTI1A	rs3824624	0.604633	0	0	1	0	0	upstream	intronic	upstream	VTI1A,ZDHHC6	ZDHHC6	ENSG00000023041,ENSG00000151532	Na	Na	Na	Na	Na	Na	Het;G>C	825;30|32	Hom;G>C	1766;0|57
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114206837	114206837	T	C	snp	UTR5	-295T>C	 	 	 	VTI1A	Vti1a	ENSG00000151532	vesicle transport through interaction with t-SNAREs 1A	chr10:114206756-114578503	The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease ; Heart Function Tests; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Lipoproteins, LDL; Coronary Disease|Coronary heart disease|Myocardial Infarction; Prostatic Neoplasms	Mice homozygous for a knock-out allele are viable and fertile.	Retrograde transport at the Trans-Golgi-Network	GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0006896;Golgi to vacuole transport;IBA|GO:0006914;autophagy;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0048280;vesicle fusion with Golgi apparatus;IBA|GO:0050882;voluntary musculoskeletal movement;IMP|GO:0090161;Golgi ribbon formation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;ISS|GO:0005776;autophagosome;IDA|GO:0005789;endoplasmic reticulum membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0008021;synaptic vesicle;ISS|GO:0012507;ER to Golgi transport vesicle membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;ISS|GO:0031201;SNARE complex;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IBA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043025;neuronal cell body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044306;neuron projection terminus;ISS|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VTI1A	https://www.uniprot.org/uniprot/Q96AJ9		https://www.ncbi.nlm.nih.gov/omim/?term=614316	http://www.informatics.jax.org/searchtool/Search.do?query=VTI1A&submit=Quick%0D%9434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VTI1A	rs2277206	0.523762	0	0	1	0	0	UTR5	UTR5	upstream	VTI1A(NM_145206:c.-295T>C)	VTI1A(uc001kzy.3:c.-295T>C,uc001kzz.3:c.-295T>C)	ENSG00000023041,ENSG00000151532	Na	Na	Na	Na	Na	Na	Het;T>C	1466;64|59	Hom;T>C	3623;0|122
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114210352	114210352	G	C	snp	intronic	 	 	 	 	VTI1A	Vti1a	ENSG00000151532	vesicle transport through interaction with t-SNAREs 1A	chr10:114206756-114578503	The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease ; Heart Function Tests; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Lipoproteins, LDL; Coronary Disease|Coronary heart disease|Myocardial Infarction; Prostatic Neoplasms	Mice homozygous for a knock-out allele are viable and fertile.	Retrograde transport at the Trans-Golgi-Network	GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0006896;Golgi to vacuole transport;IBA|GO:0006914;autophagy;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0048280;vesicle fusion with Golgi apparatus;IBA|GO:0050882;voluntary musculoskeletal movement;IMP|GO:0090161;Golgi ribbon formation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;ISS|GO:0005776;autophagosome;IDA|GO:0005789;endoplasmic reticulum membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0008021;synaptic vesicle;ISS|GO:0012507;ER to Golgi transport vesicle membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;ISS|GO:0031201;SNARE complex;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IBA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043025;neuronal cell body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044306;neuron projection terminus;ISS|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VTI1A	https://www.uniprot.org/uniprot/Q96AJ9		https://www.ncbi.nlm.nih.gov/omim/?term=614316	http://www.informatics.jax.org/searchtool/Search.do?query=VTI1A&submit=Quick%0D%9434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VTI1A	rs41292620	0.00978435	0	0	1	0	0	intronic	intronic	intronic	VTI1A	VTI1A	ENSG00000151532	Na	Na	Na	Na	Na	Na	Het;G>C	552;26|24	Hom;G>C	1351;0|49
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114270474	114270474	A	T	snp	intronic	 	 	 	 	VTI1A	Vti1a	ENSG00000151532	vesicle transport through interaction with t-SNAREs 1A	chr10:114206756-114578503	The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease ; Heart Function Tests; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Lipoproteins, LDL; Coronary Disease|Coronary heart disease|Myocardial Infarction; Prostatic Neoplasms	Mice homozygous for a knock-out allele are viable and fertile.	Retrograde transport at the Trans-Golgi-Network	GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0006896;Golgi to vacuole transport;IBA|GO:0006914;autophagy;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0048280;vesicle fusion with Golgi apparatus;IBA|GO:0050882;voluntary musculoskeletal movement;IMP|GO:0090161;Golgi ribbon formation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;ISS|GO:0005776;autophagosome;IDA|GO:0005789;endoplasmic reticulum membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0008021;synaptic vesicle;ISS|GO:0012507;ER to Golgi transport vesicle membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;ISS|GO:0031201;SNARE complex;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IBA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043025;neuronal cell body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044306;neuron projection terminus;ISS|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VTI1A	https://www.uniprot.org/uniprot/Q96AJ9		https://www.ncbi.nlm.nih.gov/omim/?term=614316	http://www.informatics.jax.org/searchtool/Search.do?query=VTI1A&submit=Quick%0D%9434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VTI1A	rs10509964	0.178315	0	0	1	0	0	intronic	intronic	intronic	VTI1A	VTI1A	ENSG00000151532	Na	Na	Na	Na	Na	Na	Het;A>T	39;3|3	Hom;A>T	120;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114637545	114637545	G	T	snp	intergenic	 	 	 	 	AL158212.3																		rs1327694	0.258986	0	0	1	0	0	intergenic	intergenic	intergenic	LOC103344931(dist=50054),TCF7L2(dist=72464)	BC112004(dist=22422),TCF7L2(dist=72464)	ENSG00000260917(dist=50060),ENSG00000225292(dist=10949)	Na	Na	Na	Na	Na	Na	Het;G>T	724;62|38	Hom;G>T	2298;4|88
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114758349	114758349	C	T	snp	intronic	 	 	 	 	TCF7L2	Tcf7l2	ENSG00000148737	transcription factor 7 like 2	chr10:114710009-114927437	This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]	Type 2 diabetes; diabetes, gestational; fasting glucose-related traits ; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; clinicopathological characteristics of hepatocellular carcinoma; normal variation; Coronary Disease; atherosclerosis; latent autoimmune diabetes; Calcinosis|Diabetes Mellitus, Type 2|Pancreatitis, Chronic; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Hyperlipidemias; Diabetes Mellitus, Type 2|Insulin Resistance; Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X; Diabetes Mellitus; Hypercholesterolemia|LDLC levels; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperglycemia|Insulin Resistance; Kidney Diseases; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Autoimmune Diseases|Diabetes Mellitus; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Hemoglobin A, Glycosylated; diabetes, type 2 | diabetes, type 1; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation; Atherosclerosis|Cardiovascular Diseases|Coronary Disease|Diabetic Angiopathies; glucose homeostasis; Hypertension|Metabolic Syndrome X|Obesity; Calcinosis|Coronary Artery Disease|Diabetes mellitus; Tobacco Use Disorder; Body Weight|Puberty, Precocious|Thinness; Insulin Resistance; Diabetes Mellitus, Type 2|Obesity; Type 2 diabetes|reduced prostate cancer risk; Alzheimer's disease ; Crohn Disease|; birth weight glucose small for gestational age; Diabetes Mellitus, Type 2; body mass insulin; schizophrenia; Neoplasms; null; Diabetes Mellitus|Hypertension|Insulin Resistance; body mass cholesterol, HDL diabetes, type 2 glucose insulin metabolic syndrome triglycerides; Colonic Neoplasms; colorectal cancer; obesity; Diabetes Mellitus, Type 2|; Diabetes Mellitus|; two-hour glucose challenge ; Insulin Resistance|Overweight|Weight Loss; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; prostate cancer; polycystic ovary syndrome; Blood Pressure Determination; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Birth Weight|Hyperglycemia|Pregnancy Complications|Pregnancy in Diabetics; breast cancer; diabetes, type 2 glucose insulin; insulin; ovarian cancer ; Obesity; metabolic syndrome; Insulin Resistance|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hyperglycemia; coronary artery disease; Body Weight|Diabetes, Gestational|Gestational diabetes mellitus ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; Posttransplantation diabetes mellitus (PTDM); Colonic Neoplasms|Microsatellite Instability; Body Weight|Diabetes mellitus|Postoperative Complications; Diabetes Mellitus|Fatty Liver; Glucose Tolerance Test; Fatty Liver; type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Glucose Intolerance; type 2 diabetes and other traits; obesity|BMI	Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth. Mice heterozygous for some mutations display abnormalities in glucose homeostasis.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001568;blood vessel development;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0007050;cell cycle arrest;IMP|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0008283;cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010909;positive regulation of heparan sulfate proteoglycan biosynthetic process;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0031016;pancreas development;TAS|GO:0032024;positive regulation of insulin secretion;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0032350;regulation of hormone metabolic process;IDA|GO:0042593;glucose homeostasis;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0044334;canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition;IMP|GO:0045444;fat cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046827;positive regulation of protein export from nucleus;IMP|GO:0048625;myoblast fate commitment;IDA|GO:0048660;regulation of smooth muscle cell proliferation;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016605;PML body;IEA|GO:0032993;protein-DNA complex;IDA|GO:0070369;beta-catenin-TCF7L2 complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0035257;nuclear hormone receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IMP|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0045295;gamma-catenin binding;IPI|GO:0070016;armadillo repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TCF7L2	https://www.uniprot.org/uniprot/Q9NQB0		https://www.ncbi.nlm.nih.gov/omim/?term=602228	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7L2&submit=Quick%0D%9156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7L2	rs7903146	0.227835	0	0	1	0	0	intronic	intronic	intronic	TCF7L2	TCF7L2	ENSG00000148737	Na	Na	Na	Na	Na	Na	Het;C>T	352;19|16	Hom;C>T	771;0|28
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114808902	114808902	G	T	snp	intronic	 	 	 	 	TCF7L2	Tcf7l2	ENSG00000148737	transcription factor 7 like 2	chr10:114710009-114927437	This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]	Type 2 diabetes; diabetes, gestational; fasting glucose-related traits ; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; clinicopathological characteristics of hepatocellular carcinoma; normal variation; Coronary Disease; atherosclerosis; latent autoimmune diabetes; Calcinosis|Diabetes Mellitus, Type 2|Pancreatitis, Chronic; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Hyperlipidemias; Diabetes Mellitus, Type 2|Insulin Resistance; Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X; Diabetes Mellitus; Hypercholesterolemia|LDLC levels; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperglycemia|Insulin Resistance; Kidney Diseases; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Autoimmune Diseases|Diabetes Mellitus; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Hemoglobin A, Glycosylated; diabetes, type 2 | diabetes, type 1; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation; Atherosclerosis|Cardiovascular Diseases|Coronary Disease|Diabetic Angiopathies; glucose homeostasis; Hypertension|Metabolic Syndrome X|Obesity; Calcinosis|Coronary Artery Disease|Diabetes mellitus; Tobacco Use Disorder; Body Weight|Puberty, Precocious|Thinness; Insulin Resistance; Diabetes Mellitus, Type 2|Obesity; Type 2 diabetes|reduced prostate cancer risk; Alzheimer's disease ; Crohn Disease|; birth weight glucose small for gestational age; Diabetes Mellitus, Type 2; body mass insulin; schizophrenia; Neoplasms; null; Diabetes Mellitus|Hypertension|Insulin Resistance; body mass cholesterol, HDL diabetes, type 2 glucose insulin metabolic syndrome triglycerides; Colonic Neoplasms; colorectal cancer; obesity; Diabetes Mellitus, Type 2|; Diabetes Mellitus|; two-hour glucose challenge ; Insulin Resistance|Overweight|Weight Loss; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; prostate cancer; polycystic ovary syndrome; Blood Pressure Determination; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Birth Weight|Hyperglycemia|Pregnancy Complications|Pregnancy in Diabetics; breast cancer; diabetes, type 2 glucose insulin; insulin; ovarian cancer ; Obesity; metabolic syndrome; Insulin Resistance|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hyperglycemia; coronary artery disease; Body Weight|Diabetes, Gestational|Gestational diabetes mellitus ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; Posttransplantation diabetes mellitus (PTDM); Colonic Neoplasms|Microsatellite Instability; Body Weight|Diabetes mellitus|Postoperative Complications; Diabetes Mellitus|Fatty Liver; Glucose Tolerance Test; Fatty Liver; type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Glucose Intolerance; type 2 diabetes and other traits; obesity|BMI	Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth. Mice heterozygous for some mutations display abnormalities in glucose homeostasis.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001568;blood vessel development;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0007050;cell cycle arrest;IMP|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0008283;cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010909;positive regulation of heparan sulfate proteoglycan biosynthetic process;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0031016;pancreas development;TAS|GO:0032024;positive regulation of insulin secretion;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0032350;regulation of hormone metabolic process;IDA|GO:0042593;glucose homeostasis;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0044334;canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition;IMP|GO:0045444;fat cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046827;positive regulation of protein export from nucleus;IMP|GO:0048625;myoblast fate commitment;IDA|GO:0048660;regulation of smooth muscle cell proliferation;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016605;PML body;IEA|GO:0032993;protein-DNA complex;IDA|GO:0070369;beta-catenin-TCF7L2 complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0035257;nuclear hormone receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IMP|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0045295;gamma-catenin binding;IPI|GO:0070016;armadillo repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TCF7L2	https://www.uniprot.org/uniprot/Q9NQB0		https://www.ncbi.nlm.nih.gov/omim/?term=602228	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7L2&submit=Quick%0D%9156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7L2	rs12255372	0.213858	0	0	1	0	0	intronic	intronic	intronic	TCF7L2	TCF7L2	ENSG00000148737	Na	Na	Na	Na	Na	Na	Het;G>T	206;31|13	Hom;G>T	1056;0|42
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	114849353	114849353	C	T	snp	intronic	 	 	 	 	TCF7L2	Tcf7l2	ENSG00000148737	transcription factor 7 like 2	chr10:114710009-114927437	This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]	Type 2 diabetes; diabetes, gestational; fasting glucose-related traits ; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; clinicopathological characteristics of hepatocellular carcinoma; normal variation; Coronary Disease; atherosclerosis; latent autoimmune diabetes; Calcinosis|Diabetes Mellitus, Type 2|Pancreatitis, Chronic; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Hyperlipidemias; Diabetes Mellitus, Type 2|Insulin Resistance; Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X; Diabetes Mellitus; Hypercholesterolemia|LDLC levels; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperglycemia|Insulin Resistance; Kidney Diseases; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Autoimmune Diseases|Diabetes Mellitus; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Hemoglobin A, Glycosylated; diabetes, type 2 | diabetes, type 1; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation; Atherosclerosis|Cardiovascular Diseases|Coronary Disease|Diabetic Angiopathies; glucose homeostasis; Hypertension|Metabolic Syndrome X|Obesity; Calcinosis|Coronary Artery Disease|Diabetes mellitus; Tobacco Use Disorder; Body Weight|Puberty, Precocious|Thinness; Insulin Resistance; Diabetes Mellitus, Type 2|Obesity; Type 2 diabetes|reduced prostate cancer risk; Alzheimer's disease ; Crohn Disease|; birth weight glucose small for gestational age; Diabetes Mellitus, Type 2; body mass insulin; schizophrenia; Neoplasms; null; Diabetes Mellitus|Hypertension|Insulin Resistance; body mass cholesterol, HDL diabetes, type 2 glucose insulin metabolic syndrome triglycerides; Colonic Neoplasms; colorectal cancer; obesity; Diabetes Mellitus, Type 2|; Diabetes Mellitus|; two-hour glucose challenge ; Insulin Resistance|Overweight|Weight Loss; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; prostate cancer; polycystic ovary syndrome; Blood Pressure Determination; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Birth Weight|Hyperglycemia|Pregnancy Complications|Pregnancy in Diabetics; breast cancer; diabetes, type 2 glucose insulin; insulin; ovarian cancer ; Obesity; metabolic syndrome; Insulin Resistance|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hyperglycemia; coronary artery disease; Body Weight|Diabetes, Gestational|Gestational diabetes mellitus ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; Posttransplantation diabetes mellitus (PTDM); Colonic Neoplasms|Microsatellite Instability; Body Weight|Diabetes mellitus|Postoperative Complications; Diabetes Mellitus|Fatty Liver; Glucose Tolerance Test; Fatty Liver; type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Glucose Intolerance; type 2 diabetes and other traits; obesity|BMI	Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth. Mice heterozygous for some mutations display abnormalities in glucose homeostasis.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001568;blood vessel development;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0007050;cell cycle arrest;IMP|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0008283;cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010909;positive regulation of heparan sulfate proteoglycan biosynthetic process;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0031016;pancreas development;TAS|GO:0032024;positive regulation of insulin secretion;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0032350;regulation of hormone metabolic process;IDA|GO:0042593;glucose homeostasis;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0044334;canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition;IMP|GO:0045444;fat cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046827;positive regulation of protein export from nucleus;IMP|GO:0048625;myoblast fate commitment;IDA|GO:0048660;regulation of smooth muscle cell proliferation;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016605;PML body;IEA|GO:0032993;protein-DNA complex;IDA|GO:0070369;beta-catenin-TCF7L2 complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0035257;nuclear hormone receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IMP|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0045295;gamma-catenin binding;IPI|GO:0070016;armadillo repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TCF7L2	https://www.uniprot.org/uniprot/Q9NQB0		https://www.ncbi.nlm.nih.gov/omim/?term=602228	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7L2&submit=Quick%0D%9156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7L2	rs10749127	0.283746	0	0	1	0	0	intronic	intronic	intronic	TCF7L2	TCF7L2	ENSG00000148737	Na	Na	Na	Na	Na	Na	Het;C>T	1015;51|49	Hom;C>T	2546;2|98
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115175689	115175689	A	T	snp	intergenic	 	 	 	 	RNU7-165P																		rs7907478	0.245607	0	0	1	0	0	intergenic	intergenic	intergenic	TCF7L2(dist=248253),HABP2(dist=134901)	TCF7L2(dist=248253),HABP2(dist=134901)	ENSG00000238380(dist=62446),ENSG00000230018(dist=66686)	Na	Na	Na	Na	Na	Na	Het;A>T	216;8|11	Hom;A>T	494;0|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115334124	115334124	C	T	snp	nonsynonymous SNV	C149T	T50M	polar,hydrophilic,neutral	hydrophobic,neutral	HABP2	Habp2	ENSG00000148702	hyaluronan binding protein 2	chr10:115310596-115349361	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]	Sleep; Type 2 Diabetes| edema | rosiglitazone; null; Alzheimer's disease ; Blood Pressure Determination; smoking cessation; Hepatitis C|Liver Cirrhosis; thromboembolism, venous; Venous Thrombosis; Hemorrhagic Disorders; cholesterol; triglycerides; atherosclerosis, coronary	Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation.		GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005539;glycosaminoglycan binding;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HABP2	https://www.uniprot.org/uniprot/Q14520	https://hpo.jax.org/app/browse/search?q=HABP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603924	http://www.informatics.jax.org/searchtool/Search.do?query=HABP2&submit=Quick%0D%9150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HABP2	rs3740530	0.534545	0.5441	0.6235	1	0	0	exonic	exonic	exonic	HABP2	HABP2	ENSG00000148702	synonymous SNV	nonsynonymous SNV	unknown	HABP2:NM_004132:exon3:c.C183T:p.H61H,HABP2:NM_001177660:exon3:c.C105T:p.H35H,	HABP2:uc010qry.1:exon4:c.C149T:p.T50M,	UNKNOWN	Het;C>T	536;45|30	Hom;C>T	2691;0|103
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115370254	115370254	A	G	snp	synonymous SNV	T3567C	I1189I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs12243176	0.469449	0.4423	0.4649	1	0	0	exonic	exonic	exonic	NRAP	NRAP	ENSG00000197893	synonymous SNV	synonymous SNV	unknown	NRAP:NM_006175:exon30:c.T3462C:p.I1154I,NRAP:NM_198060:exon31:c.T3567C:p.I1189I,NRAP:NM_001261463:exon31:c.T3567C:p.I1189I,	NRAP:uc001lal.4:exon31:c.T3567C:p.I1189I,NRAP:uc001lak.4:exon30:c.T3462C:p.I1154I,NRAP:uc001laj.4:exon31:c.T3567C:p.I1189I,	UNKNOWN	Het;A>G	1388;43|36	Hom;A>G	4762;0|109
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115370274	115370274	T	C	snp	nonsynonymous SNV	A3442G	I1148V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs10749138	0.462859	0.4333	0.4627	0.15	2	13	exonic	exonic	exonic	NRAP	NRAP	ENSG00000197893	nonsynonymous SNV	nonsynonymous SNV	unknown	NRAP:NM_006175:exon30:c.A3442G:p.I1148V,NRAP:NM_198060:exon31:c.A3547G:p.I1183V,NRAP:NM_001261463:exon31:c.A3547G:p.I1183V,	NRAP:uc001lal.4:exon31:c.A3547G:p.I1183V,NRAP:uc001lak.4:exon30:c.A3442G:p.I1148V,NRAP:uc001laj.4:exon31:c.A3547G:p.I1183V,	UNKNOWN	Het;T>C	1374;47|37	Hom;T>C	4973;0|118
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115377290	115377290	T	C	snp	nonsynonymous SNV	A2792G	D931G	polar,hydrophilic,charged(-)	aliphatic,neutral	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs77678145	0.0700879	0.0639	0.0742	0.46	6	13	exonic	exonic	exonic	NRAP	NRAP	ENSG00000197893	nonsynonymous SNV	nonsynonymous SNV	unknown	NRAP:NM_006175:exon25:c.A2792G:p.D931G,NRAP:NM_198060:exon26:c.A2897G:p.D966G,NRAP:NM_001261463:exon26:c.A2897G:p.D966G,	NRAP:uc001lal.4:exon26:c.A2897G:p.D966G,NRAP:uc001lak.4:exon25:c.A2792G:p.D931G,NRAP:uc001laj.4:exon26:c.A2897G:p.D966G,	UNKNOWN	Het;T>C	706;34|34	Hom;T>C	2007;0|78
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115381747	115381747	G	A	snp	nonsynonymous SNV	C2545T	R849C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs868738	0.209465	0.2583	0.2988	0.62	8	13	exonic	exonic	exonic	NRAP	NRAP	ENSG00000197893	nonsynonymous SNV	nonsynonymous SNV	unknown	NRAP:NM_006175:exon23:c.C2545T:p.R849C,NRAP:NM_198060:exon24:c.C2650T:p.R884C,NRAP:NM_001261463:exon24:c.C2650T:p.R884C,	NRAP:uc001lal.4:exon24:c.C2650T:p.R884C,NRAP:uc001lak.4:exon23:c.C2545T:p.R849C,NRAP:uc001laj.4:exon24:c.C2650T:p.R884C,	UNKNOWN	Het;G>A	1057;88|57	Hom;G>A	3171;2|119
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115384467	115384467	C	A	snp	intronic	 	 	 	 	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs3127086	0.142572	0	0	1	0	0	intronic	intronic	intronic	NRAP	NRAP	ENSG00000197893	Na	Na	Na	Na	Na	Na	Het;C>A	134;4|6	Hom;C>A	185;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115412687	115412687	C	T	snp	intronic	 	 	 	 	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs3127113	0.14397	0.1371	0.1917	1	0	0	intronic	intronic	intronic	NRAP	NRAP	ENSG00000197893	Na	Na	Na	Na	Na	Na	Het;C>T	590;43|29	Hom;C>T	3235;0|73
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115422474	115422474	A	G	snp	synonymous SNV	T219C	N73N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs3127122	0.289137	0.3285	0.3247	1	0	0	exonic	exonic	exonic	NRAP	NRAP	ENSG00000197893	synonymous SNV	synonymous SNV	unknown	NRAP:NM_006175:exon3:c.T219C:p.N73N,NRAP:NM_198060:exon3:c.T219C:p.N73N,NRAP:NM_001261463:exon3:c.T219C:p.N73N,	NRAP:uc001lal.4:exon3:c.T219C:p.N73N,NRAP:uc001lak.4:exon3:c.T219C:p.N73N,NRAP:uc001laj.4:exon3:c.T219C:p.N73N,	UNKNOWN	Het;A>G	948;45|49	Hom;A>G	1631;0|62
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115423695	115423695	A	C	snp	UTR5	-54T>G	 	 	 	NRAP	Nrap	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP	rs3127124	0.14996	0.1535	0	1	0	0	UTR5	UTR5	UTR5	NRAP(NM_006175:c.-54T>G,NM_198060:c.-54T>G,NM_001261463:c.-54T>G)	NRAP(uc001laj.4:c.-54T>G,uc001lal.4:c.-54T>G,uc001lak.4:c.-54T>G)	ENSG00000197893(ENST00000369360:c.-54T>G,ENST00000360478:c.-54T>G,ENST00000359988:c.-54T>G,ENST00000369358:c.-54T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	440;19|20	Hom;A>C	930;0|34
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115540652	115540652	C	T	snp	UTR3	*291C>T	 	 	 	PLEKHS1	Plekhs1	ENSG00000148735	pleckstrin homology domain containing S1	chr10:115511213-115543188		Tobacco Use Disorder; Breath Tests; smoking cessation	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHS1	https://www.uniprot.org/uniprot/Q5SXH7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHS1&submit=Quick%0D%9155ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHS1	rs3750900	0.34984	0	0	1	0	0	UTR3	UTR3	UTR3	PLEKHS1(NM_024889:c.*291C>T,NM_001193435:c.*112C>T,NM_001193434:c.*112C>T)	PLEKHS1(uc009xyc.2:c.*112C>T,uc001lar.2:c.*291C>T,uc001las.2:c.*112C>T,uc001lau.2:c.*112C>T)	ENSG00000148735(ENST00000361048:c.*291C>T,ENST00000369312:c.*112C>T,ENST00000369309:c.*112C>T,ENST00000354462:c.*112C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	139;1|6	Hom;C>T	262;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115567808	115567808	T	C	snp	intergenic	 	 	 	 	PLEKHS1	Plekhs1	ENSG00000148735	pleckstrin homology domain containing S1	chr10:115511213-115543188		Tobacco Use Disorder; Breath Tests; smoking cessation	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHS1	https://www.uniprot.org/uniprot/Q5SXH7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHS1&submit=Quick%0D%9155ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHS1	rs4523652	0.127396	0	0	1	0	0	intergenic	intergenic	intergenic	PLEKHS1(dist=25616),DCLRE1A(dist=26675)	AK027190(dist=24620),DCLRE1A(dist=26675)	ENSG00000148735(dist=24620),ENSG00000212589(dist=12410)	Na	Na	Na	Na	Na	Na	Het;T>C	91;3|4	Hom;T>C	268;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115580385	115580385	C	T	snp	downstream	 	 	 	 	SNORA17																		rs11196517	0.128994	0	0	1	0	0	intergenic	intergenic	downstream	PLEKHS1(dist=38193),DCLRE1A(dist=14098)	AK027190(dist=37197),DCLRE1A(dist=14098)	ENSG00000212589	Na	Na	Na	Na	Na	Na	Het;C>T	210;13|11	Hom;C>T	776;0|27
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115618246	115618246	T	C	snp	intronic	 	 	 	 	NHLRC2	Nhlrc2	ENSG00000196865	NHL repeat containing 2	chr10:115614420-115676953		Alzheimer's disease 	 	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0045454;cell redox homeostasis;IEA	GO:0005576;extracellular region;TAS|GO:0031093;platelet alpha granule lumen;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NHLRC2		https://hpo.jax.org/app/browse/search?q=NHLRC2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=NHLRC2&submit=Quick%0D%16484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NHLRC2	rs2301180	0.223642	0.2345	0.2980	1	0	0	intronic	intronic	intronic	NHLRC2	NHLRC2	ENSG00000196865	Na	Na	Na	Na	Na	Na	Het;T>C	784;31|36	Hom;T>C	1328;0|42
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115644040	115644040	G	A	snp	nonsynonymous SNV	G940A	V314I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NHLRC2	Nhlrc2	ENSG00000196865	NHL repeat containing 2	chr10:115614420-115676953		Alzheimer's disease 	 	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0045454;cell redox homeostasis;IEA	GO:0005576;extracellular region;TAS|GO:0031093;platelet alpha granule lumen;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NHLRC2		https://hpo.jax.org/app/browse/search?q=NHLRC2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=NHLRC2&submit=Quick%0D%16484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NHLRC2	rs7913176	0.223442	0.2388	0.2720	0.54	7	13	exonic	exonic	exonic	NHLRC2	NHLRC2	ENSG00000196865	nonsynonymous SNV	nonsynonymous SNV	unknown	NHLRC2:NM_198514:exon5:c.G940A:p.V314I,	NHLRC2:uc001lax.2:exon5:c.G940A:p.V314I,	UNKNOWN	Het;G>A	1410;63|70	Hom;G>A	3499;0|138
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115803375	115803375	T	C	snp	upstream	 	 	 	 	ADRB1	Adrb1	ENSG00000043591	adrenoceptor beta 1	chr10:115803806-115806667	The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]	cardiovascular disease; Heart Failure|Ventricular Dysfunction, Left|Ventricular Remodeling; heart rate; left ventricular funtion; heart failure; Alzheimer's disease ; Syncope; Bulimia; depressive disorder, major; sudden infant death; angina, unstable cardiac death cerebrovascular disease, ischemic congestive heart failure heart rate myocardial infarct; Heart Failure; coronary heart disease; heart rate; left ventricular function; left ventricular ejection fraction; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Hypertension|Nephrosclerosis; left ventricular hypertrophy; resting heart rate; Heart Failure|Myocardial Infarction; normal variation; body mass; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; nonfatal acute myocardial infarction; obesity; Meningococcal Infections; blood pressure, arterial hypertension; Cardiovascular Diseases|Myocardial Ischemia; Atrial Fibrillation|Hypertension; Coronary Disease|Hyperlipoproteinemia Type II; personality disorders; cardiomyopathy; heart failure; Cardiovascular Diseases|Sleep Apnea, Obstructive; Tachycardia, Ventricular; heart rate, resting; endurance performance; Cardiomyopathy, Dilated|; Glaucoma, Open-Angle; Heart Failure|Myocardial ischemia; Hemoglobins; left ventricular ejection fraction troponin, cardiac; Obesity; Obesity|Obesity, Morbid; myocardial infarct; timolol pharmacokinetics; hypertension; left ventricular hypertrophy; Coronary Artery Disease; Coronary Disease|Hypertension; acute coronary syndrome; Coronary Artery Disease|Death, Sudden, Cardiac|Tachycardia, Ventricular|Ventricular Fibrillation; Cardiovascular Diseases|Diabetic Nephropathies|Diabetic Nephropathy; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Atrial Fibrillation; blood pressure; heart rate; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Heart Failure|Myocardial ischemia; Hyperlipidemias|Hypertension|Myocardial Infarction; hypertension; null; Cadaver|Cardiovascular Diseases|Death, Sudden, Cardiac|; several psychiatric disorders; Heart Failure|Tachycardia, Ventricular; Takotsubo Cardiomyopathy; obesity|hypertension; Hypertension; BMI- Edema rosiglitazone or pioglitazone; Long QT Syndrome; blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline; Kidney Failure, Chronic; Alzheimer's disease; Chronic Obstructive Pulmonary Disease; betaxolol hydrochloride efficacy; antihypertensive response to metoprolol.; blood pressure, arterial; left ventricular remodeling; Hypertension|Myocardial Infarction|Stroke; ADHD | attention-deficit hyperactivity disorder; Glaucoma; Myocardial Infarction; Syncope, Vasovagal|Vasovagal syncope; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Tachycardia, Ventricular; Low Tension Glaucoma; attention deficit disorder conduct disorder oppositional defiant disorder; pharmacogenetic studies; blood pressure, arterial; heart rate; sensitivity to beta(1)-adrenergic blockade; Sleep Apnea, Obstructive; body mass; obesity, localized; Diabetes Complications|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Myocardial Infarction; Coronary Disease|Myocardial Ischemia; reward dependence temperament; Tachycardia; congestive heart failure; Hypercholesterolemia|LDLC levels; cardiovascular response to metoprolol; Adiponectin; Syncope, Vasovagal; idiopathic orthostatic intolerance; Respiration Disorders; Hypertension|Occupational Diseases; Arrhythmias, Cardiac|Heart Failure; Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy	Most mice homozygous for targeted mutations that inactivate the gene die prenatally, with the penetrance of lethality showing strain dependence. Surviving knockouts appear normal, but lack the chronotropic and inotropic responses seen in wild-type mice when beta-AR agonists such as isoproterenol are administered.	G alpha (s) signalling events	GO:0001659;temperature homeostasis;IBA|GO:0001996;positive regulation of heart rate by epinephrine-norepinephrine;IEA|GO:0001997;positive regulation of the force of heart contraction by epinephrine-norepinephrine;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002025;norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007267;cell-cell signaling;IBA|GO:0009409;response to cold;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031649;heat generation;IEA|GO:0040015;negative regulation of multicellular organism growth;IEA|GO:0042596;fear response;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0045823;positive regulation of heart contraction;IEA|GO:0050873;brown fat cell differentiation;IEA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IDA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004939;beta-adrenergic receptor activity;TAS|GO:0004940;beta1-adrenergic receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0031694;alpha-2A adrenergic receptor binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IBA|GO:0051380;norepinephrine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ADRB1	https://www.uniprot.org/uniprot/P08588		https://www.ncbi.nlm.nih.gov/omim/?term=109630	http://www.informatics.jax.org/searchtool/Search.do?query=ADRB1&submit=Quick%0D%848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRB1	rs12414657	0.177915	0	0	1	0	0	upstream	upstream	upstream	ADRB1	ADRB1	ENSG00000043591	Na	Na	Na	Na	Na	Na	Het;T>C	44;1|3	Hom;T>C	120;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115804036	115804036	A	G	snp	nonsynonymous SNV	A145G	S49G	polar,hydrophilic,neutral	aliphatic,neutral	ADRB1	Adrb1	ENSG00000043591	adrenoceptor beta 1	chr10:115803806-115806667	The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]	cardiovascular disease; Heart Failure|Ventricular Dysfunction, Left|Ventricular Remodeling; heart rate; left ventricular funtion; heart failure; Alzheimer's disease ; Syncope; Bulimia; depressive disorder, major; sudden infant death; angina, unstable cardiac death cerebrovascular disease, ischemic congestive heart failure heart rate myocardial infarct; Heart Failure; coronary heart disease; heart rate; left ventricular function; left ventricular ejection fraction; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Hypertension|Nephrosclerosis; left ventricular hypertrophy; resting heart rate; Heart Failure|Myocardial Infarction; normal variation; body mass; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; nonfatal acute myocardial infarction; obesity; Meningococcal Infections; blood pressure, arterial hypertension; Cardiovascular Diseases|Myocardial Ischemia; Atrial Fibrillation|Hypertension; Coronary Disease|Hyperlipoproteinemia Type II; personality disorders; cardiomyopathy; heart failure; Cardiovascular Diseases|Sleep Apnea, Obstructive; Tachycardia, Ventricular; heart rate, resting; endurance performance; Cardiomyopathy, Dilated|; Glaucoma, Open-Angle; Heart Failure|Myocardial ischemia; Hemoglobins; left ventricular ejection fraction troponin, cardiac; Obesity; Obesity|Obesity, Morbid; myocardial infarct; timolol pharmacokinetics; hypertension; left ventricular hypertrophy; Coronary Artery Disease; Coronary Disease|Hypertension; acute coronary syndrome; Coronary Artery Disease|Death, Sudden, Cardiac|Tachycardia, Ventricular|Ventricular Fibrillation; Cardiovascular Diseases|Diabetic Nephropathies|Diabetic Nephropathy; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Atrial Fibrillation; blood pressure; heart rate; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Heart Failure|Myocardial ischemia; Hyperlipidemias|Hypertension|Myocardial Infarction; hypertension; null; Cadaver|Cardiovascular Diseases|Death, Sudden, Cardiac|; several psychiatric disorders; Heart Failure|Tachycardia, Ventricular; Takotsubo Cardiomyopathy; obesity|hypertension; Hypertension; BMI- Edema rosiglitazone or pioglitazone; Long QT Syndrome; blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline; Kidney Failure, Chronic; Alzheimer's disease; Chronic Obstructive Pulmonary Disease; betaxolol hydrochloride efficacy; antihypertensive response to metoprolol.; blood pressure, arterial; left ventricular remodeling; Hypertension|Myocardial Infarction|Stroke; ADHD | attention-deficit hyperactivity disorder; Glaucoma; Myocardial Infarction; Syncope, Vasovagal|Vasovagal syncope; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Tachycardia, Ventricular; Low Tension Glaucoma; attention deficit disorder conduct disorder oppositional defiant disorder; pharmacogenetic studies; blood pressure, arterial; heart rate; sensitivity to beta(1)-adrenergic blockade; Sleep Apnea, Obstructive; body mass; obesity, localized; Diabetes Complications|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Myocardial Infarction; Coronary Disease|Myocardial Ischemia; reward dependence temperament; Tachycardia; congestive heart failure; Hypercholesterolemia|LDLC levels; cardiovascular response to metoprolol; Adiponectin; Syncope, Vasovagal; idiopathic orthostatic intolerance; Respiration Disorders; Hypertension|Occupational Diseases; Arrhythmias, Cardiac|Heart Failure; Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy	Most mice homozygous for targeted mutations that inactivate the gene die prenatally, with the penetrance of lethality showing strain dependence. Surviving knockouts appear normal, but lack the chronotropic and inotropic responses seen in wild-type mice when beta-AR agonists such as isoproterenol are administered.	G alpha (s) signalling events	GO:0001659;temperature homeostasis;IBA|GO:0001996;positive regulation of heart rate by epinephrine-norepinephrine;IEA|GO:0001997;positive regulation of the force of heart contraction by epinephrine-norepinephrine;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002025;norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007267;cell-cell signaling;IBA|GO:0009409;response to cold;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031649;heat generation;IEA|GO:0040015;negative regulation of multicellular organism growth;IEA|GO:0042596;fear response;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0045823;positive regulation of heart contraction;IEA|GO:0050873;brown fat cell differentiation;IEA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IDA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004939;beta-adrenergic receptor activity;TAS|GO:0004940;beta1-adrenergic receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0031694;alpha-2A adrenergic receptor binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IBA|GO:0051380;norepinephrine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ADRB1	https://www.uniprot.org/uniprot/P08588		https://www.ncbi.nlm.nih.gov/omim/?term=109630	http://www.informatics.jax.org/searchtool/Search.do?query=ADRB1&submit=Quick%0D%848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRB1	rs1801252	0.177716	0.1367	0.3040	0.08	1	13	exonic	exonic	exonic	ADRB1	ADRB1	ENSG00000043591	nonsynonymous SNV	nonsynonymous SNV	unknown	ADRB1:NM_000684:exon1:c.A145G:p.S49G,	ADRB1:uc001lba.3:exon1:c.A145G:p.S49G,	UNKNOWN	Het;A>G	613;16|25	Hom;A>G	870;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115878456	115878456	C	T	snp	intergenic	 	 	 	 	UBE2V1P5																		rs184118538	0.00259585	0	0	1	0	0	intergenic	intergenic	intergenic	ADRB1(dist=71789),CCDC186(dist=3518)	ADRB1(dist=71789),C10orf118(dist=3518)	ENSG00000226582(dist=1146),ENSG00000165813(dist=2165)	Na	Na	Na	Na	Na	Na	Het;C>T	270;18|14	Hom;C>T	519;0|20
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115884072	115884072	A	AAATAT	indel	UTR3	*830T>ATATTT	 	 	 	CCDC186	Ccdc186																	rs60191874	0.423323	0	0	1	0	0	UTR3	UTR3	UTR3	CCDC186(NM_018017:c.*830T>ATATTT)	C10orf118(uc009xyd.1:c.*883T>ATATTT,uc001lbb.1:c.*830T>ATATTT,uc001lbc.1:c.*830T>ATATTT)	ENSG00000165813(ENST00000369287:c.*830T>ATATTT)	Na	Na	Na	Na	Na	Na	Het;+AATAT	2231;52|58	Hom;+AATAT	4480;0|103
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115889872	115889872	A	G	snp	intronic	 	 	 	 	CCDC186	Ccdc186																	rs606682	0.423323	0	0	1	0	0	intronic	intronic	intronic	CCDC186	C10orf118	ENSG00000165813	Na	Na	Na	Na	Na	Na	Het;A>G	2086;77|88	Hom;A>G	5029;0|175
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115894959	115894959	C	G	snp	intronic	 	 	 	 	CCDC186	Ccdc186																	rs7902873	0.629193	0	0	1	0	0	intronic	intronic	intronic	CCDC186	C10orf118	ENSG00000165813	Na	Na	Na	Na	Na	Na	Het;C>G	133;8|5	Hom;C>G	395;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115962953	115962953	A	G	snp	intronic	 	 	 	 	TDRD1	Tdrd1	ENSG00000095627	tudor domain containing 1	chr10:115939029-115992063	This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Male homozygous mice are sterile, displaying postnatal spermatogenic defects. Females are fertile.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;ISS|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0051321;meiotic cell cycle;IEA	GO:0005737;cytoplasm;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0033391;chromatoid body;IEA|GO:0043186;P granule;ISS|GO:0071546;pi-body;ISS	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRD1	https://www.uniprot.org/uniprot/Q9BXT4		https://www.ncbi.nlm.nih.gov/omim/?term=605796	http://www.informatics.jax.org/searchtool/Search.do?query=TDRD1&submit=Quick%0D%2255ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRD1	rs17091414	0.19389	0.1994	0.2026	1	0	0	intronic	intronic	intronic	TDRD1	TDRD1	ENSG00000095627	Na	Na	Na	Na	Na	Na	Het;A>G	596;29|24	Hom;A>G	1533;1|59
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	115962993	115962993	G	T	snp	intronic	 	 	 	 	TDRD1	Tdrd1	ENSG00000095627	tudor domain containing 1	chr10:115939029-115992063	This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Male homozygous mice are sterile, displaying postnatal spermatogenic defects. Females are fertile.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;ISS|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0051321;meiotic cell cycle;IEA	GO:0005737;cytoplasm;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0033391;chromatoid body;IEA|GO:0043186;P granule;ISS|GO:0071546;pi-body;ISS	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRD1	https://www.uniprot.org/uniprot/Q9BXT4		https://www.ncbi.nlm.nih.gov/omim/?term=605796	http://www.informatics.jax.org/searchtool/Search.do?query=TDRD1&submit=Quick%0D%2255ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRD1	rs149142353	0.000399361	0	0	1	0	0	intronic	intronic	intronic	TDRD1	TDRD1	ENSG00000095627	Na	Na	Na	Na	Na	Na	Het;G>T	400;23|17	Hom;G>T	1027;1|40
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116008299	116008299	C	T	snp	intronic	 	 	 	 	VWA2	Vwa2	ENSG00000165816	von Willebrand factor A domain containing 2	chr10:115999018-116051272	This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]	Alzheimer's disease ; Myocardial Infarction	 		GO:0007161;calcium-independent cell-matrix adhesion;IEA|GO:0046626;regulation of insulin receptor signaling pathway;IMP|GO:0051260;protein homooligomerization;IDA	GO:0005576;extracellular region;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VWA2				http://www.informatics.jax.org/searchtool/Search.do?query=VWA2&submit=Quick%0D%11634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VWA2	rs639870	0.197484	0	0	1	0	0	intronic	intronic	intronic	VWA2	VWA2	ENSG00000165816	Na	Na	Na	Na	Na	Na	Het;C>T	75;1|3	Hom;C>T	311;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116013367	116013368	CT	C	indel	intronic	 	 	 	 	VWA2	Vwa2	ENSG00000165816	von Willebrand factor A domain containing 2	chr10:115999018-116051272	This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]	Alzheimer's disease ; Myocardial Infarction	 		GO:0007161;calcium-independent cell-matrix adhesion;IEA|GO:0046626;regulation of insulin receptor signaling pathway;IMP|GO:0051260;protein homooligomerization;IDA	GO:0005576;extracellular region;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VWA2				http://www.informatics.jax.org/searchtool/Search.do?query=VWA2&submit=Quick%0D%11634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VWA2	rs59164459	0.204073	0.2106	0.2000	1	0	0	intronic	intronic	intronic	VWA2	VWA2	ENSG00000165816	Na	Na	Na	Na	Na	Na	Het;-T	618;26|21	Hom;-T	1615;3|45
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116085784	116085784	C	CCCG	indel	nonframeshift substitution	331_331delinsCGGG	 	 	 	AFAP1L2	Afap1l2	ENSG00000169129	actin filament associated protein 1 like 2	chr10:116054583-116164515		Alzheimer's disease ; Cognitive performance ; Hip; Alcoholism	 		GO:0006954;inflammatory response;IDA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0009966;regulation of signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0032675;regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0017124;SH3 domain binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0035591;signaling adaptor activity;IEA|GO:0042169;SH2 domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L2			https://www.ncbi.nlm.nih.gov/omim/?term=612420	http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L2&submit=Quick%0D%12422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L2	rs60778514	0	0	0.6030	1	0	0	exonic	exonic	exonic	AFAP1L2	AFAP1L2	ENSG00000169129	nonframeshift substitution	nonframeshift substitution	unknown	AFAP1L2:NM_001287824:exon5:c.331_331delinsCGGG,	AFAP1L2:uc010qse.2:exon5:c.331_331delinsCGGG,	UNKNOWN	Het;+CCG	1658;37|45	Hom;+CCG	3058;2|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116091555	116091555	T	C	snp	intronic	 	 	 	 	AFAP1L2	Afap1l2	ENSG00000169129	actin filament associated protein 1 like 2	chr10:116054583-116164515		Alzheimer's disease ; Cognitive performance ; Hip; Alcoholism	 		GO:0006954;inflammatory response;IDA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0009966;regulation of signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0032675;regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0017124;SH3 domain binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0035591;signaling adaptor activity;IEA|GO:0042169;SH2 domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L2			https://www.ncbi.nlm.nih.gov/omim/?term=612420	http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L2&submit=Quick%0D%12422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L2	rs10787524	0.736621	0.7416	0.7575	1	0	0	intronic	intronic	intronic	AFAP1L2	AFAP1L2	ENSG00000169129	Na	Na	Na	Na	Na	Na	Het;T>C	668;32|35	Hom;T>C	1576;0|57
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116100320	116100320	T	G	snp	intronic	 	 	 	 	AFAP1L2	Afap1l2	ENSG00000169129	actin filament associated protein 1 like 2	chr10:116054583-116164515		Alzheimer's disease ; Cognitive performance ; Hip; Alcoholism	 		GO:0006954;inflammatory response;IDA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0009966;regulation of signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0032675;regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0017124;SH3 domain binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0035591;signaling adaptor activity;IEA|GO:0042169;SH2 domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L2			https://www.ncbi.nlm.nih.gov/omim/?term=612420	http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L2&submit=Quick%0D%12422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L2	rs4752395	0.694489	0.6868	0.7863	1	0	0	intronic	intronic	intronic	AFAP1L2	AFAP1L2	ENSG00000169129	Na	Na	Na	Na	Na	Na	Het;T>G	498;41|23	Hom;T>G	1488;0|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116196198	116196198	G	A	snp	intronic	 	 	 	 	ABLIM1	Ablim1	ENSG00000099204	actin binding LIM protein 1	chr10:116190872-116444762	This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis	Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.	DCC mediated attractive signaling	GO:0007010;cytoskeleton organization;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030032;lamellipodium assembly;IMP|GO:0060271;cilium assembly;IMP	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA	GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABLIM1	https://www.uniprot.org/uniprot/O14639		https://www.ncbi.nlm.nih.gov/omim/?term=602330	http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM1&submit=Quick%0D%2299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM1	rs74160409	0.0652955	0	0	1	0	0	intronic	intronic	intronic	ABLIM1	ABLIM1	ENSG00000099204	Na	Na	Na	Na	Na	Na	Het;G>A	133;14|9	Hom;G>A	561;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116222749	116222749	G	A	snp	intronic	 	 	 	 	ABLIM1	Ablim1	ENSG00000099204	actin binding LIM protein 1	chr10:116190872-116444762	This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis	Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.	DCC mediated attractive signaling	GO:0007010;cytoskeleton organization;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030032;lamellipodium assembly;IMP|GO:0060271;cilium assembly;IMP	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA	GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABLIM1	https://www.uniprot.org/uniprot/O14639		https://www.ncbi.nlm.nih.gov/omim/?term=602330	http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM1&submit=Quick%0D%2299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM1	rs7920878	0.461861	0	0	1	0	0	intronic	intronic	intronic	ABLIM1	ABLIM1	ENSG00000099204	Na	Na	Na	Na	Na	Na	Het;G>A	573;16|26	Hom;G>A	1324;1|53
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116278306	116278306	C	T	snp	intronic	 	 	 	 	ABLIM1	Ablim1	ENSG00000099204	actin binding LIM protein 1	chr10:116190872-116444762	This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis	Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.	DCC mediated attractive signaling	GO:0007010;cytoskeleton organization;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030032;lamellipodium assembly;IMP|GO:0060271;cilium assembly;IMP	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA	GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABLIM1	https://www.uniprot.org/uniprot/O14639		https://www.ncbi.nlm.nih.gov/omim/?term=602330	http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM1&submit=Quick%0D%2299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM1	rs74158016	0.387979	0	0	1	0	0	intronic	intronic	intronic	ABLIM1	ABLIM1	ENSG00000099204	Na	Na	Na	Na	Na	Na	Het;C>T	244;5|9	Hom;C>T	750;0|27
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116524601	116524601	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101927692																		rs808295	0.641973	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927692	AK098198	ENSG00000228484	Na	Na	Na	Na	Na	Na	Het;G>C	1667;55|74	Hom;G>C	3240;0|111
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116538634	116538634	C	G	snp	ncRNA_exonic	 	 	 	 	LOC101927692																		rs34751270	0.238219	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_exonic	LOC101927692	AK098198	ENSG00000228484	Na	Na	Na	Na	Na	Na	Het;C>G	1503;124|73	Hom;C>G	4654;1|163
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116539304	116539304	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927692																		rs7077074	0.523163	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_exonic	LOC101927692	AK098198	ENSG00000228484	Na	Na	Na	Na	Na	Na	Het;A>G	607;25|24	Hom;A>G	1273;1|40
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116593175	116593175	C	T	snp	UTR3	*2C>T	 	 	 	FAM160B1	Fam160b1	ENSG00000151553	family with sequence similarity 160 member B1	chr10:116581503-116659591		Body Height	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM160B1	https://www.uniprot.org/uniprot/Q5W0V3		https://www.ncbi.nlm.nih.gov/omim/?term=617312	http://www.informatics.jax.org/searchtool/Search.do?query=FAM160B1&submit=Quick%0D%9436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM160B1	rs11196939	0.349441	0.4240	0.4282	1	0	0	intronic	intronic	UTR3	FAM160B1	FAM160B1	ENSG00000151553(ENST00000369246:c.*2C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1119;46|53	Hom;C>T	2621;0|96
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116596071	116596071	A	C	snp	intronic	 	 	 	 	FAM160B1	Fam160b1	ENSG00000151553	family with sequence similarity 160 member B1	chr10:116581503-116659591		Body Height	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM160B1	https://www.uniprot.org/uniprot/Q5W0V3		https://www.ncbi.nlm.nih.gov/omim/?term=617312	http://www.informatics.jax.org/searchtool/Search.do?query=FAM160B1&submit=Quick%0D%9436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM160B1	rs17095662	0.388778	0	0	1	0	0	intronic	intronic	intronic	FAM160B1	FAM160B1	ENSG00000151553	Na	Na	Na	Na	Na	Na	Het;A>C	653;14|25	Hom;A>C	1263;0|41
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116605103	116605103	A	G	snp	intronic	 	 	 	 	FAM160B1	Fam160b1	ENSG00000151553	family with sequence similarity 160 member B1	chr10:116581503-116659591		Body Height	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM160B1	https://www.uniprot.org/uniprot/Q5W0V3		https://www.ncbi.nlm.nih.gov/omim/?term=617312	http://www.informatics.jax.org/searchtool/Search.do?query=FAM160B1&submit=Quick%0D%9436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM160B1	rs2420069	0.353235	0.4243	0.4315	1	0	0	intronic	intronic	intronic	FAM160B1	FAM160B1	ENSG00000151553	Na	Na	Na	Na	Na	Na	Het;A>G	318;32|17	Hom;A>G	1394;0|45
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116606173	116606173	C	CT	indel	intronic	 	 	 	 	FAM160B1	Fam160b1	ENSG00000151553	family with sequence similarity 160 member B1	chr10:116581503-116659591		Body Height	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM160B1	https://www.uniprot.org/uniprot/Q5W0V3		https://www.ncbi.nlm.nih.gov/omim/?term=617312	http://www.informatics.jax.org/searchtool/Search.do?query=FAM160B1&submit=Quick%0D%9436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM160B1	rs3834423	0.353235	0.4225	0.4328	1	0	0	intronic	intronic	intronic	FAM160B1	FAM160B1	ENSG00000151553	Na	Na	Na	Na	Na	Na	Het;+T	738;28|24	Hom;+T	3009;0|76
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116615045	116615045	T	C	snp	synonymous SNV	T1893C	F631F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	FAM160B1	Fam160b1	ENSG00000151553	family with sequence similarity 160 member B1	chr10:116581503-116659591		Body Height	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM160B1	https://www.uniprot.org/uniprot/Q5W0V3		https://www.ncbi.nlm.nih.gov/omim/?term=617312	http://www.informatics.jax.org/searchtool/Search.do?query=FAM160B1&submit=Quick%0D%9436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM160B1	rs3180654	0.254593	0.3423	0.3201	1	0	0	exonic	exonic	exonic	FAM160B1	FAM160B1	ENSG00000151553	synonymous SNV	synonymous SNV	unknown	FAM160B1:NM_001135051:exon14:c.T1893C:p.F631F,FAM160B1:NM_020940:exon14:c.T1893C:p.F631F,	FAM160B1:uc001lcc.3:exon14:c.T1893C:p.F631F,FAM160B1:uc001lcb.3:exon14:c.T1893C:p.F631F,	UNKNOWN	Het;T>C	2170;105|102	Hom;T>C	5218;2|203
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116621154	116621154	C	A	snp	intronic	 	 	 	 	FAM160B1	Fam160b1	ENSG00000151553	family with sequence similarity 160 member B1	chr10:116581503-116659591		Body Height	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM160B1	https://www.uniprot.org/uniprot/Q5W0V3		https://www.ncbi.nlm.nih.gov/omim/?term=617312	http://www.informatics.jax.org/searchtool/Search.do?query=FAM160B1&submit=Quick%0D%9436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM160B1	rs34064819	0.2498	0.3408	0.3169	1	0	0	intronic	intronic	intronic	FAM160B1	FAM160B1	ENSG00000151553	Na	Na	Na	Na	Na	Na	Het;C>A	1373;50|67	Hom;C>A	2902;0|107
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116719543	116719543	G	A	snp	nonsynonymous SNV	G500A	R167K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TRUB1	Trub1	ENSG00000165832	TruB pseudouridine synthase family member 1	chr10:116697952-116737430	Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]	Alzheimer's disease 	 		GO:0001522;pseudouridine synthesis;IEA|GO:0006396;RNA processing;IEA|GO:0006400;tRNA modification;IBA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:1990481;mRNA pseudouridine synthesis;IBA		GO:0003723;RNA binding;IEA|GO:0009982;pseudouridine synthase activity;IBA|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRUB1			https://www.ncbi.nlm.nih.gov/omim/?term=610726	http://www.informatics.jax.org/searchtool/Search.do?query=TRUB1&submit=Quick%0D%11638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRUB1	rs7099565	0.422724	0.5550	0.4248	0.15	2	13	exonic	exonic	exonic	TRUB1	TRUB1	ENSG00000165832	nonsynonymous SNV	nonsynonymous SNV	unknown	TRUB1:NM_139169:exon4:c.G500A:p.R167K,	TRUB1:uc010qsl.2:exon4:c.G206A:p.R69K,TRUB1:uc001lcd.3:exon4:c.G500A:p.R167K,	UNKNOWN	Het;G>A	775;52|43	Hom;G>A	2319;0|87
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116754502	116754502	A	T	snp	ncRNA_exonic	 	 	 	 	LOC102724589																		rs7097580	0.283746	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724589	TRUB1(dist=17063),ATRNL1(dist=98622)	ENSG00000236799	Na	Na	Na	Na	Na	Na	Het;A>T	495;52|27	Hom;A>T	2569;0|97
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	116756226	116756226	C	G	snp	ncRNA_intronic	 	 	 	 	LOC102724589																		rs11197023	0.200679	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102724589	TRUB1(dist=18787),ATRNL1(dist=96898)	ENSG00000236799	Na	Na	Na	Na	Na	Na	Het;C>G	632;51|37	Hom;C>G	2281;0|84
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	117024548	117024548	A	AT	indel	intronic	 	 	 	 	ATRNL1	Atrnl1	ENSG00000107518	attractin like 1	chr10:116853124-117708503		Body Weight; Respiratory Function Tests; Tobacco Use Disorder; Alzheimer's disease ; Hemoglobins; Glucose; Body Weights and Measures; Hand Strength; Neurobehavioral Manifestations	Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology.		GO:0007186;G-protein coupled receptor signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATRNL1	https://www.uniprot.org/uniprot/Q5VV63		https://www.ncbi.nlm.nih.gov/omim/?term=612869	http://www.informatics.jax.org/searchtool/Search.do?query=ATRNL1&submit=Quick%0D%3610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATRNL1	rs398014856	0.980232	0	0	1	0	0	intronic	intronic	intronic	ATRNL1	ATRNL1	ENSG00000107518	Na	Na	Na	Na	Na	Na	Het;+T	36;1|3	Hom;+T	159;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	118423572	118423572	G	A	snp	UTR3	*109C>T	 	 	 	C10orf82	1700019N19Rik	ENSG00000165863	chromosome 10 open reading frame 82	chr10:118423207-118429775			Male mice homozygous for a mutation are viable and show normal fertility.					http://www.genecards.org/index.php?path=/Search/keyword/C10orf82				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf82&submit=Quick%0D%11642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf82	rs3830026	0.195687	0	0.1596	1	0	0	UTR3	UTR3	UTR3	C10orf82(NM_144661:c.*109C>T)	C10orf82(uc001lcr.3:c.*109C>T)	ENSG00000165863(ENST00000369210:c.*109C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	787;29|36	Hom;G>A	1296;0|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	118438982	118438982	G	A	snp	intronic	 	 	 	 	HSPA12A	Hspa12a	ENSG00000165868	heat shock protein family A (Hsp70) member 12A	chr10:118430703-118502085		Aging/ Telomere Length; cognitive trait	 	Regulation of HSF1-mediated heat shock response	GO:0008150;biological_process;ND	GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPA12A			https://www.ncbi.nlm.nih.gov/omim/?term=610701	http://www.informatics.jax.org/searchtool/Search.do?query=HSPA12A&submit=Quick%0D%11643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA12A	rs17095105	0.0694888	0.0344	0.0525	1	0	0	intronic	intronic	intronic	HSPA12A	HSPA12A	ENSG00000165868	Na	Na	Na	Na	Na	Na	Het;G>A	177;6|9	Hom;G>A	465;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	118594392	118594392	G	A	snp	ncRNA_intronic	 	 	 	 	AC023283.1																		rs1681720	0.34984	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	HSPA12A(dist=92307),ENO4(dist=14631)	HSPA12A	ENSG00000225302	Na	Na	Na	Na	Na	Na	Het;G>A	331;13|14	Hom;G>A	1273;0|41
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119036625	119036625	T	C	snp	intronic	 	 	 	 	SLC18A2	Slc18a2	ENSG00000165646	solute carrier family 18 member A2	chr10:119000604-119038941	The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011]	Narcolepsy; Marijuana Abuse|Psychoses, Substance-Induced; null; Tobacco Use Disorder; Bulimia; alcohol abuse; nicotine dependence; Weight Gain; Parkinson's disease; alcohol abuse; financial and psychological risk attitudes; Respiratory Function Tests; alcohol consumption; bipolar disorder schizophrenia; smoking cessation; Parkinson's disease; schizophrenia; Bipolar Disorder; antidepressant response	Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior.	Na+/Cl- dependent neurotransmitter transporters	GO:0001975;response to amphetamine;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006837;serotonin transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007626;locomotory behavior;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IBA|GO:0015844;monoamine transport;TAS|GO:0015872;dopamine transport;TAS|GO:0042137;sequestering of neurotransmitter;NAS|GO:0055085;transmembrane transport;IEA|GO:0098700;neurotransmitter loading into synaptic vesicle;TAS|GO:1903427;negative regulation of reactive oxygen species biosynthetic process;NAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS	GO:0008504;monoamine transmembrane transporter activity;TAS|GO:0015222;serotonin transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC18A2		https://hpo.jax.org/app/browse/search?q=SLC18A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=193001	http://www.informatics.jax.org/searchtool/Search.do?query=SLC18A2&submit=Quick%0D%11589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC18A2	rs363279	0.172125	0.086	0.1268	1	0	0	intronic	intronic	intronic	SLC18A2	SLC18A2	ENSG00000165646	Na	Na	Na	Na	Na	Na	Het;T>C	333;35|16	Hom;T>C	1014;0|36
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119133968	119133968	G	C	snp	synonymous SNV	C771G	S257S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PDZD8	Pdzd8	ENSG00000165650	PDZ domain containing 8	chr10:119040000-119134978		Alzheimer's disease 	 		GO:0007010;cytoskeleton organization;IMP|GO:0016032;viral process;IEA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0035556;intracellular signal transduction;IEA	GO:0005622;intracellular;IEA|GO:0016020;membrane;IDA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD8			https://www.ncbi.nlm.nih.gov/omim/?term=614235	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD8&submit=Quick%0D%11590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD8	rs3814230	0.309105	0.2169	0.2203	1	0	0	exonic	exonic	exonic	PDZD8	PDZD8	ENSG00000165650	synonymous SNV	synonymous SNV	unknown	PDZD8:NM_173791:exon1:c.C771G:p.S257S,	PDZD8:uc001lde.1:exon1:c.C771G:p.S257S,	UNKNOWN	Het;G>C	633;44|34	Hom;G>C	2394;0|81
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119134058	119134058	T	C	snp	synonymous SNV	A681G	G227G	aliphatic,neutral	aliphatic,neutral	PDZD8	Pdzd8	ENSG00000165650	PDZ domain containing 8	chr10:119040000-119134978		Alzheimer's disease 	 		GO:0007010;cytoskeleton organization;IMP|GO:0016032;viral process;IEA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0035556;intracellular signal transduction;IEA	GO:0005622;intracellular;IEA|GO:0016020;membrane;IDA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD8			https://www.ncbi.nlm.nih.gov/omim/?term=614235	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD8&submit=Quick%0D%11590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD8	rs3814229	0.309305	0.2142	0.2590	1	0	0	exonic	exonic	exonic	PDZD8	PDZD8	ENSG00000165650	synonymous SNV	synonymous SNV	unknown	PDZD8:NM_173791:exon1:c.A681G:p.G227G,	PDZD8:uc001lde.1:exon1:c.A681G:p.G227G,	UNKNOWN	Het;T>C	1896;59|84	Hom;T>C	4211;0|152
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119245385	119245385	T	C	snp	ncRNA_exonic	 	 	 	 	EMX2OS																		rs2768325	0.633586	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	EMX2OS	EMX2OS	ENSG00000229847,ENSG00000258114	Na	Na	Na	Na	Na	Na	Het;T>C	576;25|27	Hom;T>C	793;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119245952	119245952	C	T	snp	ncRNA_exonic	 	 	 	 	EMX2OS																		rs10886077	0.178514	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	EMX2OS	EMX2OS	ENSG00000229847,ENSG00000258114	Na	Na	Na	Na	Na	Na	Het;C>T	867;32|37	Hom;C>T	2131;1|79
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119247292	119247292	T	C	snp	ncRNA_exonic	 	 	 	 	EMX2OS																		rs2768326	0.619808	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	EMX2OS	EMX2OS	ENSG00000229847,ENSG00000258114	Na	Na	Na	Na	Na	Na	Het;T>C	862;42|42	Hom;T>C	2127;0|78
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119261119	119261119	G	T	snp	ncRNA_intronic	 	 	 	 	EMX2OS																		rs10749242	0.685104	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	EMX2OS	EMX2OS	ENSG00000229847	Na	Na	Na	Na	Na	Na	Het;G>T	193;10|11	Hom;G>T	441;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119301694	119301694	T	G	snp	ncRNA_exonic	 	 	 	 	EMX2OS																		rs2286629	0.205471	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	EMX2OS	EMX2OS	ENSG00000229847	Na	Na	Na	Na	Na	Na	Het;T>G	1441;47|40	Hom;T>G	2942;0|66
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119301703	119301703	T	G	snp	ncRNA_exonic	 	 	 	 	EMX2OS																		rs860626	0.41254	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	EMX2OS	EMX2OS	ENSG00000229847	Na	Na	Na	Na	Na	Na	Het;T>G	1429;48|37	Hom;T>G	2942;0|66
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119304096	119304096	A	G	snp	ncRNA_exonic	 	 	 	 	EMX2OS																		rs855769	0.358427	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EMX2OS	EMX2OS	ENSG00000229847	Na	Na	Na	Na	Na	Na	Het;A>G	616;44|28	Hom;A>G	1582;0|53
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	119707929	119707929	A	C	snp	intergenic	 	 	 	 	AL513324.1																		rs11198198	0.114816	0	0	1	0	0	intergenic	intergenic	intergenic	EMX2(dist=398872),RAB11FIP2(dist=56498)	EMX2(dist=398872),RAB11FIP2(dist=56498)	ENSG00000263041(dist=117900),ENSG00000107560(dist=56498)	Na	Na	Na	Na	Na	Na	Het;A>C	223;7|9	Hom;A>C	483;1|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	120564354	120564354	G	GA	indel	intergenic	 	 	 	 	ENSG00000251836																		rs35189825	0.622604	0	0	1	0	0	intergenic	intergenic	intergenic	CACUL1(dist=49596),NANOS1(dist=224874)	CACUL1(dist=49596),NANOS1(dist=224874)	ENSG00000251836(dist=18879),ENSG00000236058(dist=67207)	Na	Na	Na	Na	Na	Na	Het;+A	131;4|6	Hom;+A	184;0|7
N	N	-	10	120810623	120810623	A	C	snp	intronic	 	 	 	 	EIF3A	Eif3a	ENSG00000107581	eukaryotic translation initiation factor 3 subunit A	chr10:120794356-120840316		Albuminuria; Alzheimer's disease 	 	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0001732;formation of cytoplasmic translation initiation complex;IDA|GO:0002188;translation reinitiation;IBA|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0075522;IRES-dependent viral translational initiation;IDA|GO:0075525;viral translational termination-reinitiation;IDA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0043614;multi-eIF complex;IBA|GO:0071540;eukaryotic translation initiation factor 3 complex, eIF3e;IBA|GO:0071541;eukaryotic translation initiation factor 3 complex, eIF3m;IEA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IBA|GO:0003743;translation initiation factor activity;IEA|GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF3A	https://www.uniprot.org/uniprot/Q14152		https://www.ncbi.nlm.nih.gov/omim/?term=602039	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3A&submit=Quick%0D%3618ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3A	rs669964	0.315296	0	0	1	0	0	intronic	intronic	intronic	EIF3A	EIF3A	ENSG00000107581	Na	Na	Na	Na	Na	Na	Het;A>C	179;8|8	Hom;A>C	589;0|17
N	N	-	10	120889022	120889022	T	C	snp	ncRNA_intronic	 	 	 	 	FAM45B																		rs3802739	0.279153	0.3252	0.3691	1	0	0	ncRNA_intronic	intronic	intronic	FAM45B	FAM45B	ENSG00000119979	Na	Na	Na	Na	Na	Na	Het;T>C	1574;78|73	Hom;T>C	4531;0|165
N	N	-	10	120897179	120897179	T	C	snp	ncRNA_exonic	 	 	 	 	FAM45B																		rs10886401	0.28135	0	0	1	0	0	ncRNA_exonic	UTR3	downstream	FAM45B	FAM45B(uc001ldw.3:c.*1020T>C,uc010qsv.2:c.*1020T>C,uc010qsw.2:c.*1020T>C,uc010qsy.2:c.*1020T>C)	ENSG00000119979	Na	Na	Na	Na	Na	Na	Het;T>C	2801;53|123	Hom;T>C	5941;0|223
N	N	-	10	121338507	121338507	C	T	snp	intronic	 	 	 	 	TIAL1	Tial1	ENSG00000151923	TIA1 cytotoxic granule associated RNA binding protein like 1	chr10:121334199-121356541	The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]		Homozygous null mice exhibit partial embryonic lethality and reduced postnatal survival, reduced embryonic and postnatal body weight, and male and female sterility. Infertility is owed to a substantial decrease in the survival of primordial germ cells atthe genital ridge.	FGFR2 alternative splicing	GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;TAS|GO:0006952;defense response;TAS|GO:0007281;germ cell development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0017145;stem cell division;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;TAS|GO:0010494;cytoplasmic stress granule;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;TAS|GO:0017091;AU-rich element binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIAL1	https://www.uniprot.org/uniprot/Q01085		https://www.ncbi.nlm.nih.gov/omim/?term=603413	http://www.informatics.jax.org/searchtool/Search.do?query=TIAL1&submit=Quick%0D%9489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIAL1	rs3009879	0.609425	0	0	1	0	0	intronic	intronic	intronic	TIAL1	TIAL1	ENSG00000151923	Na	Na	Na	Na	Na	Na	Het;C>T	58;4|3	Hom;C>T	147;0|5
N	N	-	10	121382552	121382552	A	G	snp	intergenic	 	 	 	 	RAD1P1																		rs196311	0.709665	0	0	1	0	0	intergenic	intergenic	intergenic	TIAL1(dist=26011),BAG3(dist=28330)	TIAL1(dist=26011),BAG3(dist=28330)	ENSG00000234569(dist=1160),ENSG00000227437(dist=15416)	Na	Na	Na	Na	Na	Na	Het;A>G	75;3|3	Hom;A>G	247;0|7
N	N	-	10	121564859	121564859	A	G	snp	intronic	 	 	 	 	INPP5F	Inpp5f	ENSG00000198825	inositol polyphosphate-5-phosphatase F	chr10:121485609-121588652	The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]	Blood Pressure; Magnesium; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy.	Synthesis of PIPs at the early endosome membrane	GO:0001921;positive regulation of receptor recycling;IDA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008344;adult locomotory behavior;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0031161;phosphatidylinositol catabolic process;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IEA|GO:0042532;negative regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0046856;phosphatidylinositol dephosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0051896;regulation of protein kinase B signaling;IEA|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IEA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:2000145;regulation of cell motility;IMP|GO:2001135;regulation of endocytic recycling;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031901;early endosome membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0055037;recycling endosome;IDA	GO:0005515;protein binding;IPI|GO:0008934;inositol monophosphate 1-phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034595;phosphatidylinositol phosphate 5-phosphatase activity;IDA|GO:0034596;phosphatidylinositol phosphate 4-phosphatase activity;TAS|GO:0042578;phosphoric ester hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0052832;inositol monophosphate 3-phosphatase activity;IEA|GO:0052833;inositol monophosphate 4-phosphatase activity;IEA|GO:0052834;inositol monophosphate phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/INPP5F			https://www.ncbi.nlm.nih.gov/omim/?term=609389	http://www.informatics.jax.org/searchtool/Search.do?query=INPP5F&submit=Quick%0D%17025ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5F	rs2273748	0.273363	0.2347	0.3119	1	0	0	intronic	intronic	intronic	INPP5F	INPP5F	ENSG00000198825	Na	Na	Na	Na	Na	Na	Het;A>G	1405;51|66	Hom;A>G	3032;0|110
N	N	-	10	121565015	121565015	C	G	snp	intronic	 	 	 	 	INPP5F	Inpp5f	ENSG00000198825	inositol polyphosphate-5-phosphatase F	chr10:121485609-121588652	The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]	Blood Pressure; Magnesium; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy.	Synthesis of PIPs at the early endosome membrane	GO:0001921;positive regulation of receptor recycling;IDA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008344;adult locomotory behavior;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0031161;phosphatidylinositol catabolic process;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IEA|GO:0042532;negative regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0046856;phosphatidylinositol dephosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0051896;regulation of protein kinase B signaling;IEA|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IEA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:2000145;regulation of cell motility;IMP|GO:2001135;regulation of endocytic recycling;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031901;early endosome membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0055037;recycling endosome;IDA	GO:0005515;protein binding;IPI|GO:0008934;inositol monophosphate 1-phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034595;phosphatidylinositol phosphate 5-phosphatase activity;IDA|GO:0034596;phosphatidylinositol phosphate 4-phosphatase activity;TAS|GO:0042578;phosphoric ester hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0052832;inositol monophosphate 3-phosphatase activity;IEA|GO:0052833;inositol monophosphate 4-phosphatase activity;IEA|GO:0052834;inositol monophosphate phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/INPP5F			https://www.ncbi.nlm.nih.gov/omim/?term=609389	http://www.informatics.jax.org/searchtool/Search.do?query=INPP5F&submit=Quick%0D%17025ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5F	rs2273749	0.273363	0.2347	0.2920	1	0	0	intronic	intronic	intronic	INPP5F	INPP5F	ENSG00000198825	Na	Na	Na	Na	Na	Na	Het;C>G	206;29|12	Hom;C>G	1860;0|62
N	N	-	10	121597897	121597897	A	G	snp	intronic	 	 	 	 	MCMBP	Mcmbp	ENSG00000197771	minichromosome maintenance complex binding protein	chr10:121588972-121652068	This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	Alzheimer's disease ; Blood Pressure	 		GO:0006260;DNA replication;IEA|GO:0006261;DNA-dependent DNA replication;IMP|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;IMP|GO:0051301;cell division;IEA	GO:0000790;nuclear chromatin;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0042555;MCM complex;IDA	GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MCMBP			https://www.ncbi.nlm.nih.gov/omim/?term=610909	http://www.informatics.jax.org/searchtool/Search.do?query=MCMBP&submit=Quick%0D%16713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCMBP	rs11199103	0.198083	0	0	1	0	0	intronic	intronic	intronic	MCMBP	MCMBP	ENSG00000197771	Na	Na	Na	Na	Na	Na	Het;A>G	117;2|4	Hom;A>G	227;0|6
N	N	-	10	121663483	121663483	C	T	snp	intronic	 	 	 	 	SEC23IP	Sec23ip	ENSG00000107651	SEC23 interacting protein	chr10:121652223-121702014	This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]	Hematocrit; Body Mass Index; Carotid Artery Diseases; Waist-Hip Ratio; Heart Rate; Echocardiography; Alzheimer's disease ; Celiac Disease|; Cholesterol, LDL; Glomerular Filtration Rate; Electrocardiography; C-Reactive Protein; Sleep	Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization.	COPII (Coat Protein 2) Mediated Vesicle Transport	GO:0006886;intracellular protein transport;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0007030;Golgi organization;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003723;RNA binding;IDA|GO:0004620;phospholipase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23IP	https://www.uniprot.org/uniprot/Q9Y6Y8			http://www.informatics.jax.org/searchtool/Search.do?query=SEC23IP&submit=Quick%0D%3623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23IP	rs2475304	0.35024	0	0	1	0	0	intronic	intronic	intronic	SEC23IP	SEC23IP	ENSG00000107651	Na	Na	Na	Na	Na	Na	Het;C>T	161;4|6	Hom;C>T	185;0|6
N	N	-	10	121700255	121700255	C	T	snp	UTR3	*178C>T	 	 	 	SEC23IP	Sec23ip	ENSG00000107651	SEC23 interacting protein	chr10:121652223-121702014	This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]	Hematocrit; Body Mass Index; Carotid Artery Diseases; Waist-Hip Ratio; Heart Rate; Echocardiography; Alzheimer's disease ; Celiac Disease|; Cholesterol, LDL; Glomerular Filtration Rate; Electrocardiography; C-Reactive Protein; Sleep	Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization.	COPII (Coat Protein 2) Mediated Vesicle Transport	GO:0006886;intracellular protein transport;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0007030;Golgi organization;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003723;RNA binding;IDA|GO:0004620;phospholipase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23IP	https://www.uniprot.org/uniprot/Q9Y6Y8			http://www.informatics.jax.org/searchtool/Search.do?query=SEC23IP&submit=Quick%0D%3623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23IP	rs1052289	0.532748	0	0	1	0	0	UTR3	UTR3	UTR3	SEC23IP(NM_007190:c.*178C>T)	SEC23IP(uc001leu.2:c.*178C>T,uc010qtc.2:c.*178C>T)	ENSG00000107651(ENST00000369075:c.*178C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	427;60|26	Hom;C>T	1306;0|49
N	N	-	10	121701774	121701774	T	G	snp	UTR3	*1697T>G	 	 	 	SEC23IP	Sec23ip	ENSG00000107651	SEC23 interacting protein	chr10:121652223-121702014	This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]	Hematocrit; Body Mass Index; Carotid Artery Diseases; Waist-Hip Ratio; Heart Rate; Echocardiography; Alzheimer's disease ; Celiac Disease|; Cholesterol, LDL; Glomerular Filtration Rate; Electrocardiography; C-Reactive Protein; Sleep	Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization.	COPII (Coat Protein 2) Mediated Vesicle Transport	GO:0006886;intracellular protein transport;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0007030;Golgi organization;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003723;RNA binding;IDA|GO:0004620;phospholipase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23IP	https://www.uniprot.org/uniprot/Q9Y6Y8			http://www.informatics.jax.org/searchtool/Search.do?query=SEC23IP&submit=Quick%0D%3623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23IP	rs3981102	0.354034	0	0	1	0	0	UTR3	UTR3	downstream	SEC23IP(NM_007190:c.*1697T>G)	SEC23IP(uc001leu.2:c.*1697T>G,uc010qtc.2:c.*1697T>G)	ENSG00000107651	Na	Na	Na	Na	Na	Na	Het;T>G	1165;57|54	Hom;T>G	3251;0|111
N	N	-	10	121718112	121718112	C	T	snp	downstream	 	 	 	 	MIR4682																		rs11199134	0.444489	0	0.6304	1	0	0	downstream	downstream	downstream	MIR4682	MIR4682	ENSG00000265370	Na	Na	Na	Na	Na	Na	Het;C>T	436;45|27	Hom;C>T	959;0|37
N	N	-	10	122334561	122334561	C	T	snp	intronic	 	 	 	 	PPAPDC1A	 																	rs4751791	0.295727	0	0	1	0	0	intronic	intronic	intronic	PPAPDC1A	PPAPDC1A	ENSG00000203805	Na	Na	Na	Na	Na	Na	Het;C>T	151;9|7	Hom;C>T	547;1|18
N	N	-	10	122610646	122610646	A	C	snp	ncRNA_exonic	 	 	 	 	WDR11-AS1																		rs1659597	0.33107	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	WDR11-AS1	WDR11-AS1	ENSG00000227165	Na	Na	Na	Na	Na	Na	Het;A>C	740;17|19	Hom;A>C	1814;0|49
N	N	-	10	122649699	122649703	GATTT	G	indel	ncRNA_intronic	 	 	 	 	MIR5694																		rs570805021	0.329073	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR5694	WDR11	ENSG00000120008	Na	Na	Na	Na	Na	Na	Het;-ATTT	80;1|3	Hom;-ATTT	93;0|3
N	N	-	10	122663585	122663585	G	A	snp	synonymous SNV	G1764A	L588L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	WDR11	Wdr11	ENSG00000120008	WD repeat domain 11	chr10:122610687-122669036	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]	Asthma; Alzheimer's disease ; Coronary Disease	Nullizygous mice show mid-gestational and perinatal lethality and developmental anomalies associated with defective Hh signalling and ciliogenesis, including eye, skeletal, heart and craniofacial defects, holoprosencephaly, pituitary dysgenesis, delayed puberty, reproductive dysfunction and obesity.			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR11	https://www.uniprot.org/uniprot/Q9BZH6	https://hpo.jax.org/app/browse/search?q=WDR11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606417	http://www.informatics.jax.org/searchtool/Search.do?query=WDR11&submit=Quick%0D%5152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR11	rs1652727	0.676518	0.7238	0.6644	1	0	0	exonic	exonic	exonic	WDR11	WDR11	ENSG00000120008	synonymous SNV	synonymous SNV	unknown	WDR11:NM_018117:exon24:c.G2958A:p.L986L,	WDR11:uc010qte.2:exon17:c.G1764A:p.L588L,WDR11:uc021pzt.1:exon24:c.G2958A:p.L986L,WDR11:uc001lfd.1:exon22:c.G1512A:p.L504L,	UNKNOWN	Het;G>A	325;30|19	Hom;G>A	2006;0|75
N	N	-	10	12280296	12280296	A	G	snp	intronic	 	 	 	 	CDC123	Cdc123	ENSG00000151465	cell division cycle 123	chr10:12237964-12292588		diabetes, type 2; Posttransplantation diabetes mellitus (PTDM); obesity; Type 2 diabetes; type 2 diabetes; Hemoglobin A, Glycosylated; Respiratory Function Tests; Alzheimer's disease ; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Diabetes Mellitus, Type 2; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus, Type 2|; Tobacco Use Disorder	 		GO:0006417;regulation of translation;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0045948;positive regulation of translational initiation;ISS|GO:0051301;cell division;IEA|GO:1905143;eukaryotic translation initiation factor 2 complex assembly;ISS	GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CDC123	https://www.uniprot.org/uniprot/O75794			http://www.informatics.jax.org/searchtool/Search.do?query=CDC123&submit=Quick%0D%9422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC123	rs10906104	0.563498	0	0	1	0	0	intronic	intronic	intronic	CDC123	CDC123	ENSG00000151465	Na	Na	Na	Na	Na	Na	Het;A>G	40;2|2	Hom;A>G	174;0|5
N	N	-	10	123239112	123239112	G	A	snp	synonymous SNV	C2107T	L703L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FGFR2	Fgfr2	ENSG00000066468	fibroblast growth factor receptor 2	chr10:123237848-123357972	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]	Chiari type I malformation and syringomyelia; oral clefts; hair thickness; Hypertension; hypospadias; breast cancer; Breast cancer; Pfeiffer syndrome; Bone Mineral Density; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; ovarian cancer; breast cancer|ovarian cancer; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Sleep Apnea, Obstructive; breast cancer ; craniosynostosis; Cleft Lip|Cleft Palate; schizophrenia; Alzheimer's disease ; major depressive disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Pancreatic Neoplasms; Tobacco Use Disorder; cutaneous squamous cell carcinoma	Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism.	Signaling by FGFR2 fusions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001657;ureteric bud development;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003149;membranous septum morphogenesis;ISS|GO:0003416;endochondral bone growth;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007409;axonogenesis;ISS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0009791;post-embryonic development;ISS|GO:0009880;embryonic pattern specification;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010453;regulation of cell fate commitment;ISS|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0016331;morphogenesis of embryonic epithelium;ISS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021769;orbitofrontal cortex development;ISS|GO:0021847;ventricular zone neuroblast division;ISS|GO:0021860;pyramidal neuron development;ISS|GO:0022612;gland morphogenesis;ISS|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030324;lung development;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030901;midbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0031069;hair follicle morphogenesis;ISS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032808;lacrimal gland development;ISS|GO:0033688;regulation of osteoblast proliferation;TAS|GO:0035264;multicellular organism growth;ISS|GO:0035265;organ growth;ISS|GO:0035602;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow;ISS|GO:0035603;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;ISS|GO:0035604;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;ISS|GO:0035607;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0042060;wound healing;IEA|GO:0042472;inner ear morphogenesis;ISS|GO:0042476;odontogenesis;ISS|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045165;cell fate commitment;ISS|GO:0045471;response to ethanol;IEA|GO:0045667;regulation of osteoblast differentiation;TAS|GO:0045787;positive regulation of cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048286;lung alveolus development;ISS|GO:0048333;mesodermal cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;ISS|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048565;digestive tract development;ISS|GO:0048568;embryonic organ development;ISS|GO:0048608;reproductive structure development;ISS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;TAS|GO:0048730;epidermis morphogenesis;ISS|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0048762;mesenchymal cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;ISS|GO:0051781;positive regulation of cell division;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060174;limb bud formation;ISS|GO:0060348;bone development;ISS|GO:0060349;bone morphogenesis;ISS|GO:0060442;branching involved in prostate gland morphogenesis;ISS|GO:0060445;branching involved in salivary gland morphogenesis;ISS|GO:0060449;bud elongation involved in lung branching;ISS|GO:0060463;lung lobe morphogenesis;ISS|GO:0060484;lung-associated mesenchyme development;ISS|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;ISS|GO:0060512;prostate gland morphogenesis;ISS|GO:0060523;prostate epithelial cord elongation;ISS|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;ISS|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;ISS|GO:0060595;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;ISS|GO:0060601;lateral sprouting from an epithelium;ISS|GO:0060615;mammary gland bud formation;ISS|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;ISS|GO:0060667;branch elongation involved in salivary gland morphogenesis;ISS|GO:0060670;branching involved in labyrinthine layer morphogenesis;ISS|GO:0060687;regulation of branching involved in prostate gland morphogenesis;ISS|GO:0060688;regulation of morphogenesis of a branching structure;ISS|GO:0060915;mesenchymal cell differentiation involved in lung development;ISS|GO:0060916;mesenchymal cell proliferation involved in lung development;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0060076;excitatory synapse;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGFR2	https://www.uniprot.org/uniprot/P21802	https://hpo.jax.org/app/browse/search?q=FGFR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176943	http://www.informatics.jax.org/searchtool/Search.do?query=FGFR2&submit=Quick%0D%1223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR2	rs1047057	0.414337	0.4345	0.5311	1	0	0	exonic	exonic	exonic	FGFR2	FGFR2	ENSG00000066468	synonymous SNV	synonymous SNV	unknown	FGFR2:NM_001144915:exon17:c.C2107T:p.L703L,	FGFR2:uc021pzx.1:exon17:c.C2107T:p.L703L,	UNKNOWN	Het;G>A	2881;106|135	Hom;G>A	6245;0|231
N	N	-	10	123243197	123243197	G	A	snp	intronic	 	 	 	 	FGFR2	Fgfr2	ENSG00000066468	fibroblast growth factor receptor 2	chr10:123237848-123357972	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]	Chiari type I malformation and syringomyelia; oral clefts; hair thickness; Hypertension; hypospadias; breast cancer; Breast cancer; Pfeiffer syndrome; Bone Mineral Density; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; ovarian cancer; breast cancer|ovarian cancer; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Sleep Apnea, Obstructive; breast cancer ; craniosynostosis; Cleft Lip|Cleft Palate; schizophrenia; Alzheimer's disease ; major depressive disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Pancreatic Neoplasms; Tobacco Use Disorder; cutaneous squamous cell carcinoma	Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism.	Signaling by FGFR2 fusions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001657;ureteric bud development;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003149;membranous septum morphogenesis;ISS|GO:0003416;endochondral bone growth;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007409;axonogenesis;ISS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0009791;post-embryonic development;ISS|GO:0009880;embryonic pattern specification;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010453;regulation of cell fate commitment;ISS|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0016331;morphogenesis of embryonic epithelium;ISS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021769;orbitofrontal cortex development;ISS|GO:0021847;ventricular zone neuroblast division;ISS|GO:0021860;pyramidal neuron development;ISS|GO:0022612;gland morphogenesis;ISS|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030324;lung development;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030901;midbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0031069;hair follicle morphogenesis;ISS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032808;lacrimal gland development;ISS|GO:0033688;regulation of osteoblast proliferation;TAS|GO:0035264;multicellular organism growth;ISS|GO:0035265;organ growth;ISS|GO:0035602;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow;ISS|GO:0035603;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;ISS|GO:0035604;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;ISS|GO:0035607;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0042060;wound healing;IEA|GO:0042472;inner ear morphogenesis;ISS|GO:0042476;odontogenesis;ISS|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045165;cell fate commitment;ISS|GO:0045471;response to ethanol;IEA|GO:0045667;regulation of osteoblast differentiation;TAS|GO:0045787;positive regulation of cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048286;lung alveolus development;ISS|GO:0048333;mesodermal cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;ISS|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048565;digestive tract development;ISS|GO:0048568;embryonic organ development;ISS|GO:0048608;reproductive structure development;ISS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;TAS|GO:0048730;epidermis morphogenesis;ISS|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0048762;mesenchymal cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;ISS|GO:0051781;positive regulation of cell division;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060174;limb bud formation;ISS|GO:0060348;bone development;ISS|GO:0060349;bone morphogenesis;ISS|GO:0060442;branching involved in prostate gland morphogenesis;ISS|GO:0060445;branching involved in salivary gland morphogenesis;ISS|GO:0060449;bud elongation involved in lung branching;ISS|GO:0060463;lung lobe morphogenesis;ISS|GO:0060484;lung-associated mesenchyme development;ISS|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;ISS|GO:0060512;prostate gland morphogenesis;ISS|GO:0060523;prostate epithelial cord elongation;ISS|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;ISS|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;ISS|GO:0060595;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;ISS|GO:0060601;lateral sprouting from an epithelium;ISS|GO:0060615;mammary gland bud formation;ISS|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;ISS|GO:0060667;branch elongation involved in salivary gland morphogenesis;ISS|GO:0060670;branching involved in labyrinthine layer morphogenesis;ISS|GO:0060687;regulation of branching involved in prostate gland morphogenesis;ISS|GO:0060688;regulation of morphogenesis of a branching structure;ISS|GO:0060915;mesenchymal cell differentiation involved in lung development;ISS|GO:0060916;mesenchymal cell proliferation involved in lung development;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0060076;excitatory synapse;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGFR2	https://www.uniprot.org/uniprot/P21802	https://hpo.jax.org/app/browse/search?q=FGFR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176943	http://www.informatics.jax.org/searchtool/Search.do?query=FGFR2&submit=Quick%0D%1223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR2	rs2278202	0.423123	0.4544	0.5614	1	0	0	intronic	intronic	intronic	FGFR2	FGFR2	ENSG00000066468	Na	Na	Na	Na	Na	Na	Het;G>A	999;52|47	Hom;G>A	1369;0|51
N	N	-	10	123246732	123246754	TTTCTAAGGCCAGCTCCTGCACC	T	indel	intronic	 	 	 	 	FGFR2	Fgfr2	ENSG00000066468	fibroblast growth factor receptor 2	chr10:123237848-123357972	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]	Chiari type I malformation and syringomyelia; oral clefts; hair thickness; Hypertension; hypospadias; breast cancer; Breast cancer; Pfeiffer syndrome; Bone Mineral Density; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; ovarian cancer; breast cancer|ovarian cancer; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Sleep Apnea, Obstructive; breast cancer ; craniosynostosis; Cleft Lip|Cleft Palate; schizophrenia; Alzheimer's disease ; major depressive disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Pancreatic Neoplasms; Tobacco Use Disorder; cutaneous squamous cell carcinoma	Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism.	Signaling by FGFR2 fusions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001657;ureteric bud development;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003149;membranous septum morphogenesis;ISS|GO:0003416;endochondral bone growth;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007409;axonogenesis;ISS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0009791;post-embryonic development;ISS|GO:0009880;embryonic pattern specification;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010453;regulation of cell fate commitment;ISS|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0016331;morphogenesis of embryonic epithelium;ISS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021769;orbitofrontal cortex development;ISS|GO:0021847;ventricular zone neuroblast division;ISS|GO:0021860;pyramidal neuron development;ISS|GO:0022612;gland morphogenesis;ISS|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030324;lung development;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030901;midbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0031069;hair follicle morphogenesis;ISS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032808;lacrimal gland development;ISS|GO:0033688;regulation of osteoblast proliferation;TAS|GO:0035264;multicellular organism growth;ISS|GO:0035265;organ growth;ISS|GO:0035602;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow;ISS|GO:0035603;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;ISS|GO:0035604;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;ISS|GO:0035607;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0042060;wound healing;IEA|GO:0042472;inner ear morphogenesis;ISS|GO:0042476;odontogenesis;ISS|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045165;cell fate commitment;ISS|GO:0045471;response to ethanol;IEA|GO:0045667;regulation of osteoblast differentiation;TAS|GO:0045787;positive regulation of cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048286;lung alveolus development;ISS|GO:0048333;mesodermal cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;ISS|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048565;digestive tract development;ISS|GO:0048568;embryonic organ development;ISS|GO:0048608;reproductive structure development;ISS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;TAS|GO:0048730;epidermis morphogenesis;ISS|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0048762;mesenchymal cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;ISS|GO:0051781;positive regulation of cell division;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060174;limb bud formation;ISS|GO:0060348;bone development;ISS|GO:0060349;bone morphogenesis;ISS|GO:0060442;branching involved in prostate gland morphogenesis;ISS|GO:0060445;branching involved in salivary gland morphogenesis;ISS|GO:0060449;bud elongation involved in lung branching;ISS|GO:0060463;lung lobe morphogenesis;ISS|GO:0060484;lung-associated mesenchyme development;ISS|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;ISS|GO:0060512;prostate gland morphogenesis;ISS|GO:0060523;prostate epithelial cord elongation;ISS|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;ISS|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;ISS|GO:0060595;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;ISS|GO:0060601;lateral sprouting from an epithelium;ISS|GO:0060615;mammary gland bud formation;ISS|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;ISS|GO:0060667;branch elongation involved in salivary gland morphogenesis;ISS|GO:0060670;branching involved in labyrinthine layer morphogenesis;ISS|GO:0060687;regulation of branching involved in prostate gland morphogenesis;ISS|GO:0060688;regulation of morphogenesis of a branching structure;ISS|GO:0060915;mesenchymal cell differentiation involved in lung development;ISS|GO:0060916;mesenchymal cell proliferation involved in lung development;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0060076;excitatory synapse;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGFR2	https://www.uniprot.org/uniprot/P21802	https://hpo.jax.org/app/browse/search?q=FGFR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176943	http://www.informatics.jax.org/searchtool/Search.do?query=FGFR2&submit=Quick%0D%1223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR2	rs148450955	0.439696	0	0	1	0	0	intronic	intronic	intronic	FGFR2	FGFR2	ENSG00000066468	Na	Na	Na	Na	Na	Na	Het;-TTCTAAGGCCAGCTCCTGCACC	38;3|2	Hom;-TTCTAAGGCCAGCTCCTGCACC	459;0|11
N	N	-	10	123247037	123247037	C	T	snp	intronic	 	 	 	 	FGFR2	Fgfr2	ENSG00000066468	fibroblast growth factor receptor 2	chr10:123237848-123357972	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]	Chiari type I malformation and syringomyelia; oral clefts; hair thickness; Hypertension; hypospadias; breast cancer; Breast cancer; Pfeiffer syndrome; Bone Mineral Density; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; ovarian cancer; breast cancer|ovarian cancer; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Sleep Apnea, Obstructive; breast cancer ; craniosynostosis; Cleft Lip|Cleft Palate; schizophrenia; Alzheimer's disease ; major depressive disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Pancreatic Neoplasms; Tobacco Use Disorder; cutaneous squamous cell carcinoma	Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism.	Signaling by FGFR2 fusions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001657;ureteric bud development;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003149;membranous septum morphogenesis;ISS|GO:0003416;endochondral bone growth;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007409;axonogenesis;ISS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0009791;post-embryonic development;ISS|GO:0009880;embryonic pattern specification;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010453;regulation of cell fate commitment;ISS|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0016331;morphogenesis of embryonic epithelium;ISS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021769;orbitofrontal cortex development;ISS|GO:0021847;ventricular zone neuroblast division;ISS|GO:0021860;pyramidal neuron development;ISS|GO:0022612;gland morphogenesis;ISS|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030324;lung development;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030901;midbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0031069;hair follicle morphogenesis;ISS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032808;lacrimal gland development;ISS|GO:0033688;regulation of osteoblast proliferation;TAS|GO:0035264;multicellular organism growth;ISS|GO:0035265;organ growth;ISS|GO:0035602;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow;ISS|GO:0035603;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;ISS|GO:0035604;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;ISS|GO:0035607;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0042060;wound healing;IEA|GO:0042472;inner ear morphogenesis;ISS|GO:0042476;odontogenesis;ISS|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045165;cell fate commitment;ISS|GO:0045471;response to ethanol;IEA|GO:0045667;regulation of osteoblast differentiation;TAS|GO:0045787;positive regulation of cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048286;lung alveolus development;ISS|GO:0048333;mesodermal cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;ISS|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048565;digestive tract development;ISS|GO:0048568;embryonic organ development;ISS|GO:0048608;reproductive structure development;ISS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;TAS|GO:0048730;epidermis morphogenesis;ISS|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0048762;mesenchymal cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;ISS|GO:0051781;positive regulation of cell division;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060174;limb bud formation;ISS|GO:0060348;bone development;ISS|GO:0060349;bone morphogenesis;ISS|GO:0060442;branching involved in prostate gland morphogenesis;ISS|GO:0060445;branching involved in salivary gland morphogenesis;ISS|GO:0060449;bud elongation involved in lung branching;ISS|GO:0060463;lung lobe morphogenesis;ISS|GO:0060484;lung-associated mesenchyme development;ISS|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;ISS|GO:0060512;prostate gland morphogenesis;ISS|GO:0060523;prostate epithelial cord elongation;ISS|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;ISS|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;ISS|GO:0060595;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;ISS|GO:0060601;lateral sprouting from an epithelium;ISS|GO:0060615;mammary gland bud formation;ISS|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;ISS|GO:0060667;branch elongation involved in salivary gland morphogenesis;ISS|GO:0060670;branching involved in labyrinthine layer morphogenesis;ISS|GO:0060687;regulation of branching involved in prostate gland morphogenesis;ISS|GO:0060688;regulation of morphogenesis of a branching structure;ISS|GO:0060915;mesenchymal cell differentiation involved in lung development;ISS|GO:0060916;mesenchymal cell proliferation involved in lung development;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0060076;excitatory synapse;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGFR2	https://www.uniprot.org/uniprot/P21802	https://hpo.jax.org/app/browse/search?q=FGFR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176943	http://www.informatics.jax.org/searchtool/Search.do?query=FGFR2&submit=Quick%0D%1223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR2	rs2981461	0.424121	0	0	1	0	0	intronic	intronic	intronic	FGFR2	FGFR2	ENSG00000066468	Na	Na	Na	Na	Na	Na	Het;C>T	173;3|5	Hom;C>T	435;0|11
N	N	-	10	123247044	123247044	T	C	snp	intronic	 	 	 	 	FGFR2	Fgfr2	ENSG00000066468	fibroblast growth factor receptor 2	chr10:123237848-123357972	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]	Chiari type I malformation and syringomyelia; oral clefts; hair thickness; Hypertension; hypospadias; breast cancer; Breast cancer; Pfeiffer syndrome; Bone Mineral Density; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; ovarian cancer; breast cancer|ovarian cancer; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Sleep Apnea, Obstructive; breast cancer ; craniosynostosis; Cleft Lip|Cleft Palate; schizophrenia; Alzheimer's disease ; major depressive disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Pancreatic Neoplasms; Tobacco Use Disorder; cutaneous squamous cell carcinoma	Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism.	Signaling by FGFR2 fusions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001657;ureteric bud development;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003149;membranous septum morphogenesis;ISS|GO:0003416;endochondral bone growth;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007409;axonogenesis;ISS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0009791;post-embryonic development;ISS|GO:0009880;embryonic pattern specification;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010453;regulation of cell fate commitment;ISS|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0016331;morphogenesis of embryonic epithelium;ISS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021769;orbitofrontal cortex development;ISS|GO:0021847;ventricular zone neuroblast division;ISS|GO:0021860;pyramidal neuron development;ISS|GO:0022612;gland morphogenesis;ISS|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030324;lung development;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030901;midbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0031069;hair follicle morphogenesis;ISS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032808;lacrimal gland development;ISS|GO:0033688;regulation of osteoblast proliferation;TAS|GO:0035264;multicellular organism growth;ISS|GO:0035265;organ growth;ISS|GO:0035602;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow;ISS|GO:0035603;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;ISS|GO:0035604;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;ISS|GO:0035607;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0042060;wound healing;IEA|GO:0042472;inner ear morphogenesis;ISS|GO:0042476;odontogenesis;ISS|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045165;cell fate commitment;ISS|GO:0045471;response to ethanol;IEA|GO:0045667;regulation of osteoblast differentiation;TAS|GO:0045787;positive regulation of cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048286;lung alveolus development;ISS|GO:0048333;mesodermal cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;ISS|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048565;digestive tract development;ISS|GO:0048568;embryonic organ development;ISS|GO:0048608;reproductive structure development;ISS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;TAS|GO:0048730;epidermis morphogenesis;ISS|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0048762;mesenchymal cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;ISS|GO:0051781;positive regulation of cell division;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060174;limb bud formation;ISS|GO:0060348;bone development;ISS|GO:0060349;bone morphogenesis;ISS|GO:0060442;branching involved in prostate gland morphogenesis;ISS|GO:0060445;branching involved in salivary gland morphogenesis;ISS|GO:0060449;bud elongation involved in lung branching;ISS|GO:0060463;lung lobe morphogenesis;ISS|GO:0060484;lung-associated mesenchyme development;ISS|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;ISS|GO:0060512;prostate gland morphogenesis;ISS|GO:0060523;prostate epithelial cord elongation;ISS|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;ISS|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;ISS|GO:0060595;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;ISS|GO:0060601;lateral sprouting from an epithelium;ISS|GO:0060615;mammary gland bud formation;ISS|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;ISS|GO:0060667;branch elongation involved in salivary gland morphogenesis;ISS|GO:0060670;branching involved in labyrinthine layer morphogenesis;ISS|GO:0060687;regulation of branching involved in prostate gland morphogenesis;ISS|GO:0060688;regulation of morphogenesis of a branching structure;ISS|GO:0060915;mesenchymal cell differentiation involved in lung development;ISS|GO:0060916;mesenchymal cell proliferation involved in lung development;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0060076;excitatory synapse;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGFR2	https://www.uniprot.org/uniprot/P21802	https://hpo.jax.org/app/browse/search?q=FGFR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176943	http://www.informatics.jax.org/searchtool/Search.do?query=FGFR2&submit=Quick%0D%1223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR2	rs2981460	0.589457	0	0	1	0	0	intronic	intronic	intronic	FGFR2	FGFR2	ENSG00000066468	Na	Na	Na	Na	Na	Na	Het;T>C	173;3|5	Hom;T>C	377;0|9
N	N	-	10	123373061	123373061	A	G	snp	intergenic	 	 	 	 	FGFR2	Fgfr2	ENSG00000066468	fibroblast growth factor receptor 2	chr10:123237848-123357972	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]	Chiari type I malformation and syringomyelia; oral clefts; hair thickness; Hypertension; hypospadias; breast cancer; Breast cancer; Pfeiffer syndrome; Bone Mineral Density; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; ovarian cancer; breast cancer|ovarian cancer; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Sleep Apnea, Obstructive; breast cancer ; craniosynostosis; Cleft Lip|Cleft Palate; schizophrenia; Alzheimer's disease ; major depressive disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Pancreatic Neoplasms; Tobacco Use Disorder; cutaneous squamous cell carcinoma	Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism.	Signaling by FGFR2 fusions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001657;ureteric bud development;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003149;membranous septum morphogenesis;ISS|GO:0003416;endochondral bone growth;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007409;axonogenesis;ISS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0009791;post-embryonic development;ISS|GO:0009880;embryonic pattern specification;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010453;regulation of cell fate commitment;ISS|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0016331;morphogenesis of embryonic epithelium;ISS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021769;orbitofrontal cortex development;ISS|GO:0021847;ventricular zone neuroblast division;ISS|GO:0021860;pyramidal neuron development;ISS|GO:0022612;gland morphogenesis;ISS|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030324;lung development;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030901;midbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0031069;hair follicle morphogenesis;ISS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032808;lacrimal gland development;ISS|GO:0033688;regulation of osteoblast proliferation;TAS|GO:0035264;multicellular organism growth;ISS|GO:0035265;organ growth;ISS|GO:0035602;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow;ISS|GO:0035603;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;ISS|GO:0035604;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;ISS|GO:0035607;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0042060;wound healing;IEA|GO:0042472;inner ear morphogenesis;ISS|GO:0042476;odontogenesis;ISS|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045165;cell fate commitment;ISS|GO:0045471;response to ethanol;IEA|GO:0045667;regulation of osteoblast differentiation;TAS|GO:0045787;positive regulation of cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048286;lung alveolus development;ISS|GO:0048333;mesodermal cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;ISS|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048565;digestive tract development;ISS|GO:0048568;embryonic organ development;ISS|GO:0048608;reproductive structure development;ISS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;TAS|GO:0048730;epidermis morphogenesis;ISS|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0048762;mesenchymal cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;ISS|GO:0051781;positive regulation of cell division;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060174;limb bud formation;ISS|GO:0060348;bone development;ISS|GO:0060349;bone morphogenesis;ISS|GO:0060442;branching involved in prostate gland morphogenesis;ISS|GO:0060445;branching involved in salivary gland morphogenesis;ISS|GO:0060449;bud elongation involved in lung branching;ISS|GO:0060463;lung lobe morphogenesis;ISS|GO:0060484;lung-associated mesenchyme development;ISS|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;ISS|GO:0060512;prostate gland morphogenesis;ISS|GO:0060523;prostate epithelial cord elongation;ISS|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;ISS|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;ISS|GO:0060595;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;ISS|GO:0060601;lateral sprouting from an epithelium;ISS|GO:0060615;mammary gland bud formation;ISS|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;ISS|GO:0060667;branch elongation involved in salivary gland morphogenesis;ISS|GO:0060670;branching involved in labyrinthine layer morphogenesis;ISS|GO:0060687;regulation of branching involved in prostate gland morphogenesis;ISS|GO:0060688;regulation of morphogenesis of a branching structure;ISS|GO:0060915;mesenchymal cell differentiation involved in lung development;ISS|GO:0060916;mesenchymal cell proliferation involved in lung development;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0060076;excitatory synapse;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGFR2	https://www.uniprot.org/uniprot/P21802	https://hpo.jax.org/app/browse/search?q=FGFR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176943	http://www.informatics.jax.org/searchtool/Search.do?query=FGFR2&submit=Quick%0D%1223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR2	rs11200034	0.711062	0	0	1	0	0	intergenic	intergenic	intergenic	FGFR2(dist=15089),ATE1(dist=126875)	FGFR2(dist=15089),ATE1(dist=129564)	ENSG00000066468(dist=15089),ENSG00000223432(dist=1878)	Na	Na	Na	Na	Na	Na	Het;A>G	85;10|5	Hom;A>G	120;0|6
N	N	-	10	123781339	123781339	A	G	snp	intronic	 	 	 	 	TACC2	Tacc2	ENSG00000138162	transforming acidic coiled-coil containing protein 2	chr10:123748689-124014060	Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Tobacco Use Disorder; breast cancer	Homozygous null mice are healthy and fertile and do not display any increase in tumorigenesis.		GO:0000226;microtubule cytoskeleton organization;IBA|GO:0008283;cell proliferation;IBA|GO:0021987;cerebral cortex development;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015630;microtubule cytoskeleton;IBA	GO:0035257;nuclear hormone receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TACC2	https://www.uniprot.org/uniprot/O95359		https://www.ncbi.nlm.nih.gov/omim/?term=605302	http://www.informatics.jax.org/searchtool/Search.do?query=TACC2&submit=Quick%0D%7688ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TACC2	rs2461221	0.61881	0	0	1	0	0	intronic	intronic	intronic	TACC2	TACC2	ENSG00000138162	Na	Na	Na	Na	Na	Na	Het;A>G	34;5|2	Hom;A>G	699;0|18
N	N	-	10	124457452	124457452	C	T	snp	nonsynonymous SNV	G805A	A269T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	C10orf120	4933402N03Rik	ENSG00000183559	chromosome 10 open reading frame 120	chr10:124457225-124459338			 			GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/C10orf120				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf120&submit=Quick%0D%15009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf120	rs2947594	0.807708	0.7861	0.7823	0.08	1	13	exonic	exonic	exonic	C10orf120	C10orf120	ENSG00000183559	nonsynonymous SNV	nonsynonymous SNV	unknown	C10orf120:NM_001010912:exon3:c.G805A:p.A269T,	C10orf120:uc001lgn.3:exon3:c.G805A:p.A269T,	UNKNOWN	Het;C>T	1799;94|88	Hom;C>T	4326;0|165
N	N	-	10	124457906	124457906	C	T	snp	synonymous SNV	G351A	P117P	hydrophobic,neutral	hydrophobic,neutral	C10orf120	4933402N03Rik	ENSG00000183559	chromosome 10 open reading frame 120	chr10:124457225-124459338			 			GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/C10orf120				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf120&submit=Quick%0D%15009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf120	rs2901343	0.440895	0.4135	0.4298	1	0	0	exonic	exonic	exonic	C10orf120	C10orf120	ENSG00000183559	synonymous SNV	synonymous SNV	unknown	C10orf120:NM_001010912:exon3:c.G351A:p.P117P,	C10orf120:uc001lgn.3:exon3:c.G351A:p.P117P,	UNKNOWN	Het;C>T	1302;66|61	Hom;C>T	2974;1|107
N	N	-	10	124459139	124459139	T	C	snp	synonymous SNV	A168G	S56S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C10orf120	4933402N03Rik	ENSG00000183559	chromosome 10 open reading frame 120	chr10:124457225-124459338			 			GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/C10orf120				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf120&submit=Quick%0D%15009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf120	rs11813597	0.445887	0.4142	0.4369	1	0	0	exonic	exonic	exonic	C10orf120	C10orf120	ENSG00000183559	synonymous SNV	synonymous SNV	unknown	C10orf120:NM_001010912:exon1:c.A168G:p.S56S,	C10orf120:uc001lgn.3:exon1:c.A168G:p.S56S,	UNKNOWN	Het;T>C	510;39|25	Hom;T>C	2136;1|79
N	N	-	10	124528930	124528930	C	T	snp	ncRNA_intronic	 	 	 	 	FLJ46361																		rs947260	0.517173	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DMBT1P1	FLJ46361	ENSG00000176584	Na	Na	Na	Na	Na	Na	Het;C>T	821;27|38	Hom;C>T	1377;0|51
N	N	-	10	125503479	125503479	T	G	snp	intergenic	 	 	 	 	ENSG00000221293																		rs744557	0.0742812	0	0	1	0	0	intergenic	intergenic	intergenic	GPR26(dist=46566),CPXM2(dist=1673)	NONE(dist=NONE),CPXM2(dist=1673)	ENSG00000221293(dist=9107),ENSG00000121898(dist=1673)	Na	Na	Na	Na	Na	Na	Het;T>G	48;2|3	Hom;T>G	351;0|14
N	N	-	10	125521533	125521533	G	A	snp	synonymous SNV	C1632T	D544D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CPXM2	Cpxm2	ENSG00000121898	carboxypeptidase X, M14 family member 2	chr10:125465723-125699783		Tobacco Use Disorder; Alzheimer's disease 	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPXM2	https://www.uniprot.org/uniprot/Q8N436		https://www.ncbi.nlm.nih.gov/omim/?term=617348	http://www.informatics.jax.org/searchtool/Search.do?query=CPXM2&submit=Quick%0D%5359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPXM2	rs10794566	0.60643	0.6678	0.7071	1	0	0	exonic	exonic	exonic	CPXM2	CPXM2	ENSG00000121898	synonymous SNV	synonymous SNV	unknown	CPXM2:NM_198148:exon11:c.C1632T:p.D544D,	CPXM2:uc001lhk.1:exon11:c.C1632T:p.D544D,	UNKNOWN	Het;G>A	1251;139|76	Hom;G>A	6309;0|225
N	N	-	10	125521590	125521590	G	A	snp	synonymous SNV	C1575T	Y525Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	CPXM2	Cpxm2	ENSG00000121898	carboxypeptidase X, M14 family member 2	chr10:125465723-125699783		Tobacco Use Disorder; Alzheimer's disease 	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPXM2	https://www.uniprot.org/uniprot/Q8N436		https://www.ncbi.nlm.nih.gov/omim/?term=617348	http://www.informatics.jax.org/searchtool/Search.do?query=CPXM2&submit=Quick%0D%5359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPXM2	rs10794567	0.64996	0.7100	0.7217	1	0	0	exonic	exonic	exonic	CPXM2	CPXM2	ENSG00000121898	synonymous SNV	synonymous SNV	unknown	CPXM2:NM_198148:exon11:c.C1575T:p.Y525Y,	CPXM2:uc001lhk.1:exon11:c.C1575T:p.Y525Y,	UNKNOWN	Het;G>A	1668;137|86	Hom;G>A	6262;0|222
N	N	-	10	125521721	125521721	G	A	snp	intronic	 	 	 	 	CPXM2	Cpxm2	ENSG00000121898	carboxypeptidase X, M14 family member 2	chr10:125465723-125699783		Tobacco Use Disorder; Alzheimer's disease 	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPXM2	https://www.uniprot.org/uniprot/Q8N436		https://www.ncbi.nlm.nih.gov/omim/?term=617348	http://www.informatics.jax.org/searchtool/Search.do?query=CPXM2&submit=Quick%0D%5359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPXM2	rs10751743	0.832668	0.8640	0.8620	1	0	0	intronic	intronic	intronic	CPXM2	CPXM2	ENSG00000121898	Na	Na	Na	Na	Na	Na	Het;G>A	602;27|29	Hom;G>A	1492;0|50
N	N	-	10	125521751	125521751	C	G	snp	intronic	 	 	 	 	CPXM2	Cpxm2	ENSG00000121898	carboxypeptidase X, M14 family member 2	chr10:125465723-125699783		Tobacco Use Disorder; Alzheimer's disease 	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPXM2	https://www.uniprot.org/uniprot/Q8N436		https://www.ncbi.nlm.nih.gov/omim/?term=617348	http://www.informatics.jax.org/searchtool/Search.do?query=CPXM2&submit=Quick%0D%5359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPXM2	rs10794568	0.835264	0	0	1	0	0	intronic	intronic	intronic	CPXM2	CPXM2	ENSG00000121898	Na	Na	Na	Na	Na	Na	Het;C>G	351;16|14	Hom;C>G	963;0|29
N	N	-	10	125526689	125526689	G	A	snp	intronic	 	 	 	 	CPXM2	Cpxm2	ENSG00000121898	carboxypeptidase X, M14 family member 2	chr10:125465723-125699783		Tobacco Use Disorder; Alzheimer's disease 	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPXM2	https://www.uniprot.org/uniprot/Q8N436		https://www.ncbi.nlm.nih.gov/omim/?term=617348	http://www.informatics.jax.org/searchtool/Search.do?query=CPXM2&submit=Quick%0D%5359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPXM2	rs1896392	0.645767	0.7036	0.7389	1	0	0	intronic	intronic	intronic	CPXM2	CPXM2	ENSG00000121898	Na	Na	Na	Na	Na	Na	Het;G>A	630;37|28	Hom;G>A	1514;2|58
N	N	-	10	125622250	125622251	CA	C	indel	intronic	 	 	 	 	CPXM2	Cpxm2	ENSG00000121898	carboxypeptidase X, M14 family member 2	chr10:125465723-125699783		Tobacco Use Disorder; Alzheimer's disease 	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPXM2	https://www.uniprot.org/uniprot/Q8N436		https://www.ncbi.nlm.nih.gov/omim/?term=617348	http://www.informatics.jax.org/searchtool/Search.do?query=CPXM2&submit=Quick%0D%5359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPXM2	rs11299200	0.8127	0.8344	0.7868	1	0	0	intronic	intronic	intronic	CPXM2	CPXM2	ENSG00000121898	Na	Na	Na	Na	Na	Na	Het;-A	1187;71|45	Hom;-A	3247;0|92
N	N	-	10	125732223	125732223	G	A	snp	intergenic	 	 	 	 	NONE																		rs61862014	0.636382	0	0	1	0	0	intergenic	intergenic	intergenic	CPXM2(dist=80723),CHST15(dist=34959)	NONE(dist=NONE),CHST15(dist=34959)	NONE(dist=NONE),ENSG00000213438(dist=19203)	Na	Na	Na	Na	Na	Na	Het;G>A	32;6|3	Hom;G>A	164;0|6
N	N	-	10	126089434	126089434	G	A	snp	synonymous SNV	C1134T	N378N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OAT	Oat	ENSG00000065154	ornithine aminotransferase	chr10:126085872-126107545	This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]	Hypercholesterolemia|LDLC levels; visual field defects; Acquired Immunodeficiency Syndrome|Disease Progression; gyrate atrophy	Null mutants show neonatal hypoornithinemia and increased mortality prevented by administering arginine. Homozygotes for a spontaneous G353A point mutation have neonatal hypoornithinemia, adult hyperornithinemia, growth retardation, retarded fur development, cataracts, and retinal degeneration.	Amino acid synthesis and interconversion (transamination)	GO:0007601;visual perception;TAS|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0034214;protein hexamerization;IDA|GO:0055129;L-proline biosynthetic process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0004587;ornithine-oxo-acid transaminase activity;EXP|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IBA|GO:0042802;identical protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OAT	https://www.uniprot.org/uniprot/P04181	https://hpo.jax.org/app/browse/search?q=OAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613349	http://www.informatics.jax.org/searchtool/Search.do?query=OAT&submit=Quick%0D%1162ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAT	rs11461	0.409944	0.3153	0.4180	1	0	0	exonic	exonic	exonic	OAT	OAT	ENSG00000065154	synonymous SNV	synonymous SNV	unknown	OAT:NM_001171814:exon8:c.C720T:p.N240N,OAT:NM_000274:exon9:c.C1134T:p.N378N,	OAT:uc001lhp.3:exon9:c.C1134T:p.N378N,OAT:uc001lhr.3:exon8:c.C720T:p.N240N,	UNKNOWN	Het;G>A	722;66|39	Hom;G>A	2882;0|111
N	N	-	10	126090562	126090562	T	C	snp	intronic	 	 	 	 	OAT	Oat	ENSG00000065154	ornithine aminotransferase	chr10:126085872-126107545	This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]	Hypercholesterolemia|LDLC levels; visual field defects; Acquired Immunodeficiency Syndrome|Disease Progression; gyrate atrophy	Null mutants show neonatal hypoornithinemia and increased mortality prevented by administering arginine. Homozygotes for a spontaneous G353A point mutation have neonatal hypoornithinemia, adult hyperornithinemia, growth retardation, retarded fur development, cataracts, and retinal degeneration.	Amino acid synthesis and interconversion (transamination)	GO:0007601;visual perception;TAS|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0034214;protein hexamerization;IDA|GO:0055129;L-proline biosynthetic process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0004587;ornithine-oxo-acid transaminase activity;EXP|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IBA|GO:0042802;identical protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OAT	https://www.uniprot.org/uniprot/P04181	https://hpo.jax.org/app/browse/search?q=OAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613349	http://www.informatics.jax.org/searchtool/Search.do?query=OAT&submit=Quick%0D%1162ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAT	rs2491159	0.527356	0	0	1	0	0	intronic	intronic	intronic	OAT	OAT	ENSG00000065154	Na	Na	Na	Na	Na	Na	Het;T>C	113;1|5	Hom;T>C	143;0|5
N	N	-	10	126253727	126253727	C	T	snp	intronic	 	 	 	 	LHPP	Lhpp	ENSG00000107902	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	chr10:126150403-126306457		Cholesterol; Alzheimer's disease ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Hemoglobins	 	Purine ribonucleoside monophosphate biosynthesis	GO:0006470;protein dephosphorylation;ISS|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0016311;dephosphorylation;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000287;magnesium ion binding;ISS|GO:0004427;inorganic diphosphatase activity;TAS|GO:0008969;phosphohistidine phosphatase activity;ISS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LHPP	https://www.uniprot.org/uniprot/Q9H008		https://www.ncbi.nlm.nih.gov/omim/?term=617231	http://www.informatics.jax.org/searchtool/Search.do?query=LHPP&submit=Quick%0D%3657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHPP	rs6597844	0.598642	0	0	1	0	0	intronic	intronic	intronic	LHPP	LHPP	ENSG00000107902	Na	Na	Na	Na	Na	Na	Het;C>T	48;1|3	Hom;C>T	252;0|8
N	N	-	10	126253781	126253781	A	G	snp	intronic	 	 	 	 	LHPP	Lhpp	ENSG00000107902	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	chr10:126150403-126306457		Cholesterol; Alzheimer's disease ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Hemoglobins	 	Purine ribonucleoside monophosphate biosynthesis	GO:0006470;protein dephosphorylation;ISS|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0016311;dephosphorylation;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000287;magnesium ion binding;ISS|GO:0004427;inorganic diphosphatase activity;TAS|GO:0008969;phosphohistidine phosphatase activity;ISS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LHPP	https://www.uniprot.org/uniprot/Q9H008		https://www.ncbi.nlm.nih.gov/omim/?term=617231	http://www.informatics.jax.org/searchtool/Search.do?query=LHPP&submit=Quick%0D%3657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHPP	rs6597845	0.827676	0	0	1	0	0	intronic	intronic	intronic	LHPP	LHPP	ENSG00000107902	Na	Na	Na	Na	Na	Na	Het;A>G	215;6|10	Hom;A>G	374;2|17
N	N	-	10	126396511	126396511	C	G	snp	ncRNA_exonic	 	 	 	 	FAM53B-AS1																		rs2293064	0.245607	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	FAM53B-AS1	BC041007	ENSG00000233334	Na	Na	Na	Na	Na	Na	Het;C>G	1304;75|68	Hom;C>G	4140;0|153
N	N	-	10	126823364	126823375	CCCCCAGCCTTT	C	indel	intronic	 	 	 	 	CTBP2	Ctbp2	ENSG00000175029	C-terminal binding protein 2	chr10:126676421-126849739	This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]	Alzheimer's disease ; Celiac Disease|; Prostatic Neoplasms; prostate cancer; Tobacco Use Disorder; Hemoglobins	Embryos homozygous for a gene-trapped allele die by E10 exhibiting a small size, axial truncations, a thin neural epithelium, a dilated pericardium, delayed fore- and midbrain development, and defects in heart morphogenesis, placental development and extraembryonic vascularization.	TCF7L2 mutants don't bind CTBP	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008152;metabolic process;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0019079;viral genome replication;TAS|GO:0030154;cell differentiation;IEA|GO:0035563;positive regulation of chromatin binding;IEA|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048386;positive regulation of retinoic acid receptor signaling pathway;IMP|GO:0050872;white fat cell differentiation;ISS|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;ISS|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0097470;ribbon synapse;IEA	GO:0003682;chromatin binding;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0051287;NAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTBP2			https://www.ncbi.nlm.nih.gov/omim/?term=602619	http://www.informatics.jax.org/searchtool/Search.do?query=CTBP2&submit=Quick%0D%13622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBP2	rs200740627	0.48742	0	0	1	0	0	intronic	intronic	intronic	CTBP2	CTBP2	ENSG00000175029	Na	Na	Na	Na	Na	Na	Het;-CCCCAGCCTTT	77;4|3	Hom;-CCCCAGCCTTT	188;0|5
N	N	-	10	127265374	127265374	T	C	snp	nonsynonymous SNV	A334G	T112A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	TEX36	Tex36	ENSG00000175018	testis expressed 36	chr10:127265091-127371713		Cholesterol; Tobacco Use Disorder; Arteries	 					http://www.genecards.org/index.php?path=/Search/keyword/TEX36				http://www.informatics.jax.org/searchtool/Search.do?query=TEX36&submit=Quick%0D%13621ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEX36	rs11244568	0.278954	0	0.2884	0.09	1	11	ncRNA_intronic	exonic	exonic	TEX36-AS1	TEX36	ENSG00000175018	Na	nonsynonymous SNV	unknown	Na	TEX36:uc001lij.3:exon4:c.A334G:p.T112A,	UNKNOWN	Het;T>C	2074;89|103	Hom;T>C	5401;3|204
N	N	-	10	12737684	12737684	A	G	snp	intronic	 	 	 	 	CAMK1D	Camk1d	ENSG00000183049	calcium/calmodulin dependent protein kinase ID	chr10:12391481-12877545	This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]	type 2 diabetes; Narcolepsy; Posttransplantation diabetes mellitus (PTDM); Hematocrit; Arteries; Diabetes Mellitus|Diabetes Mellitus, Type 2|; diabetes, type 2; Cardiovascular Diseases; Echocardiography; breast cancer; Body Height; prostate cancer; Type 2 diabetes; Survival; Calcium-Binding Proteins; Alzheimer's disease ; Tobacco Use Disorder; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; obesity	 		GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007399;nervous system development;IEA|GO:0008152;metabolic process;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0032793;positive regulation of CREB transcription factor activity;IDA|GO:0035556;intracellular signal transduction;IBA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0050766;positive regulation of phagocytosis;IMP|GO:0050773;regulation of dendrite development;IMP|GO:0060267;positive regulation of respiratory burst;IMP|GO:0071622;regulation of granulocyte chemotaxis;IMP|GO:0090023;positive regulation of neutrophil chemotaxis;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMK1D			https://www.ncbi.nlm.nih.gov/omim/?term=607957	http://www.informatics.jax.org/searchtool/Search.do?query=CAMK1D&submit=Quick%0D%14911ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMK1D	rs10752273	0.84405	0	0	1	0	0	intronic	intronic	intronic	CAMK1D	CAMK1D	ENSG00000183049	Na	Na	Na	Na	Na	Na	Het;A>G	58;9|4	Hom;A>G	178;0|7
N	N	-	10	127462833	127462833	C	T	snp	synonymous SNV	G264A	A88A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MMP21	Mmp21	ENSG00000154485	matrix metallopeptidase 21	chr10:127455022-127464390	This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]	Carcinoma, Hepatocellular|Liver Neoplasms; breast cancer	Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006508;proteolysis;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0060976;coronary vasculature development;IEA|GO:0061371;determination of heart left/right asymmetry;IEA	GO:0005576;extracellular region;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP21	https://www.uniprot.org/uniprot/Q8N119	https://hpo.jax.org/app/browse/search?q=MMP21&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608416	http://www.informatics.jax.org/searchtool/Search.do?query=MMP21&submit=Quick%0D%9775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP21	rs28381281	0.233826	0	0.3229	1	0	0	exonic	exonic	exonic	MMP21	MMP21	ENSG00000154485	synonymous SNV	synonymous SNV	unknown	MMP21:NM_147191:exon2:c.G264A:p.A88A,	MMP21:uc001liu.3:exon2:c.G264A:p.A88A,	UNKNOWN	Het;C>T	103;7|7	Hom;C>T	357;0|15
N	N	-	10	127474375	127474375	T	C	snp	intergenic	 	 	 	 	MMP21	Mmp21	ENSG00000154485	matrix metallopeptidase 21	chr10:127455022-127464390	This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]	Carcinoma, Hepatocellular|Liver Neoplasms; breast cancer	Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006508;proteolysis;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0060976;coronary vasculature development;IEA|GO:0061371;determination of heart left/right asymmetry;IEA	GO:0005576;extracellular region;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP21	https://www.uniprot.org/uniprot/Q8N119	https://hpo.jax.org/app/browse/search?q=MMP21&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608416	http://www.informatics.jax.org/searchtool/Search.do?query=MMP21&submit=Quick%0D%9775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP21	rs10901431	0.439696	0	0	0.00	0	3	intergenic	intergenic	intergenic	MMP21(dist=9985),UROS(dist=2772)	MMP21(dist=9985),UROS(dist=2772)	ENSG00000154485(dist=9985),ENSG00000188690(dist=2772)	Na	Na	Na	Na	Na	Na	Het;T>C	409;18|19	Hom;T>C	1169;0|43
N	N	-	10	127483573	127483573	G	A	snp	intronic	 	 	 	 	UROS	Uros	ENSG00000188690	uroporphyrinogen III synthase	chr10:127477146-127511817	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]	Congenital erythropoietic porphyria	Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity.	Heme biosynthesis	GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006780;uroporphyrinogen III biosynthetic process;IDA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0046677;response to antibiotic;IEA|GO:0071243;cellular response to arsenic-containing substance;IEA|GO:0071418;cellular response to amine stimulus;IEA	GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS	GO:0004852;uroporphyrinogen-III synthase activity;IEA|GO:0016829;lyase activity;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROS		https://hpo.jax.org/app/browse/search?q=UROS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606938	http://www.informatics.jax.org/searchtool/Search.do?query=UROS&submit=Quick%0D%16085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROS	rs3740179	0.401158	0.4441	0.4110	1	0	0	intronic	intronic	intronic	UROS	UROS	ENSG00000188690	Na	Na	Na	Na	Na	Na	Het;G>A	430;28|22	Hom;G>A	1075;0|42
N	N	-	10	127484617	127484617	C	G	snp	intronic	 	 	 	 	UROS	Uros	ENSG00000188690	uroporphyrinogen III synthase	chr10:127477146-127511817	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]	Congenital erythropoietic porphyria	Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity.	Heme biosynthesis	GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006780;uroporphyrinogen III biosynthetic process;IDA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0046677;response to antibiotic;IEA|GO:0071243;cellular response to arsenic-containing substance;IEA|GO:0071418;cellular response to amine stimulus;IEA	GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS	GO:0004852;uroporphyrinogen-III synthase activity;IEA|GO:0016829;lyase activity;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROS		https://hpo.jax.org/app/browse/search?q=UROS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606938	http://www.informatics.jax.org/searchtool/Search.do?query=UROS&submit=Quick%0D%16085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROS	rs2281955	0.400559	0.4343	0	1	0	0	intronic	intronic	intronic	UROS	UROS	ENSG00000188690	Na	Na	Na	Na	Na	Na	Het;C>G	367;19|17	Hom;C>G	809;0|27
N	N	-	10	127484653	127484653	G	A	snp	intronic	 	 	 	 	UROS	Uros	ENSG00000188690	uroporphyrinogen III synthase	chr10:127477146-127511817	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]	Congenital erythropoietic porphyria	Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity.	Heme biosynthesis	GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006780;uroporphyrinogen III biosynthetic process;IDA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0046677;response to antibiotic;IEA|GO:0071243;cellular response to arsenic-containing substance;IEA|GO:0071418;cellular response to amine stimulus;IEA	GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS	GO:0004852;uroporphyrinogen-III synthase activity;IEA|GO:0016829;lyase activity;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROS		https://hpo.jax.org/app/browse/search?q=UROS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606938	http://www.informatics.jax.org/searchtool/Search.do?query=UROS&submit=Quick%0D%16085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROS	rs2281954	0.395966	0.4440	0.4095	1	0	0	intronic	intronic	intronic	UROS	UROS	ENSG00000188690	Na	Na	Na	Na	Na	Na	Het;G>A	586;28|30	Hom;G>A	1150;0|44
N	N	-	10	127500718	127500718	C	G	snp	intronic	 	 	 	 	UROS	Uros	ENSG00000188690	uroporphyrinogen III synthase	chr10:127477146-127511817	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]	Congenital erythropoietic porphyria	Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity.	Heme biosynthesis	GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006780;uroporphyrinogen III biosynthetic process;IDA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0046677;response to antibiotic;IEA|GO:0071243;cellular response to arsenic-containing substance;IEA|GO:0071418;cellular response to amine stimulus;IEA	GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS	GO:0004852;uroporphyrinogen-III synthase activity;IEA|GO:0016829;lyase activity;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROS		https://hpo.jax.org/app/browse/search?q=UROS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606938	http://www.informatics.jax.org/searchtool/Search.do?query=UROS&submit=Quick%0D%16085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROS	rs10901444	0.391374	0	0	1	0	0	intronic	intronic	intronic	UROS	UROS	ENSG00000188690	Na	Na	Na	Na	Na	Na	Het;C>G	374;10|14	Hom;C>G	758;0|29
N	N	-	10	127511756	127511756	C	T	snp	UTR5	-6688G>A	 	 	 	UROS	Uros	ENSG00000188690	uroporphyrinogen III synthase	chr10:127477146-127511817	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]	Congenital erythropoietic porphyria	Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity.	Heme biosynthesis	GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006780;uroporphyrinogen III biosynthetic process;IDA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0046677;response to antibiotic;IEA|GO:0071243;cellular response to arsenic-containing substance;IEA|GO:0071418;cellular response to amine stimulus;IEA	GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS	GO:0004852;uroporphyrinogen-III synthase activity;IEA|GO:0016829;lyase activity;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROS		https://hpo.jax.org/app/browse/search?q=UROS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606938	http://www.informatics.jax.org/searchtool/Search.do?query=UROS&submit=Quick%0D%16085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROS	rs4256900	0.373203	0	0	1	0	0	UTR5	UTR5	UTR5	UROS(NM_000375:c.-6688G>A)	UROS(uc001lix.4:c.-6688G>A)	ENSG00000188690(ENST00000368797:c.-6688G>A,ENST00000420761:c.-6688G>A,ENST00000368778:c.-6688G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	580;27|29	Hom;C>T	1253;0|45
N	N	-	10	127511790	127511790	G	T	snp	UTR5	-6722C>A	 	 	 	UROS	Uros	ENSG00000188690	uroporphyrinogen III synthase	chr10:127477146-127511817	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]	Congenital erythropoietic porphyria	Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity.	Heme biosynthesis	GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006780;uroporphyrinogen III biosynthetic process;IDA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0046677;response to antibiotic;IEA|GO:0071243;cellular response to arsenic-containing substance;IEA|GO:0071418;cellular response to amine stimulus;IEA	GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS	GO:0004852;uroporphyrinogen-III synthase activity;IEA|GO:0016829;lyase activity;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROS		https://hpo.jax.org/app/browse/search?q=UROS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606938	http://www.informatics.jax.org/searchtool/Search.do?query=UROS&submit=Quick%0D%16085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROS	rs4385801	0.379393	0	0	1	0	0	UTR5	UTR5	UTR5	UROS(NM_000375:c.-6722C>A)	UROS(uc001lix.4:c.-6722C>A)	ENSG00000188690(ENST00000368797:c.-6722C>A,ENST00000420761:c.-6722C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	471;24|24	Hom;G>T	1355;0|49
N	N	-	10	127515069	127515069	C	T	snp	intronic	 	 	 	 	BCCIP	Bccip	ENSG00000107949	BRCA2 and CDKN1A interacting protein	chr10:127512115-127542264	This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Coronary Artery Disease|Melanoma|Skin Neoplasms; breast cancer ; prostate cancer; Waist Circumference	 		GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0061101;neuroendocrine cell differentiation;IDA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0019908;nuclear cyclin-dependent protein kinase holoenzyme complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019207;kinase regulator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BCCIP	https://www.uniprot.org/uniprot/Q9P287		https://www.ncbi.nlm.nih.gov/omim/?term=611883	http://www.informatics.jax.org/searchtool/Search.do?query=BCCIP&submit=Quick%0D%3661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCCIP	rs10159992	0.441294	0	0	1	0	0	intronic	intronic	intronic	BCCIP	BCCIP	ENSG00000107949	Na	Na	Na	Na	Na	Na	Het;C>T	346;3|13	Hom;C>T	336;0|10
N	N	-	10	127522572	127522572	T	G	snp	UTR3	*30T>G	 	 	 	BCCIP	Bccip	ENSG00000107949	BRCA2 and CDKN1A interacting protein	chr10:127512115-127542264	This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Coronary Artery Disease|Melanoma|Skin Neoplasms; breast cancer ; prostate cancer; Waist Circumference	 		GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0061101;neuroendocrine cell differentiation;IDA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0019908;nuclear cyclin-dependent protein kinase holoenzyme complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019207;kinase regulator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BCCIP	https://www.uniprot.org/uniprot/Q9P287		https://www.ncbi.nlm.nih.gov/omim/?term=611883	http://www.informatics.jax.org/searchtool/Search.do?query=BCCIP&submit=Quick%0D%3661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCCIP	rs3740206	0.402955	0	0.4226	1	0	0	intronic	UTR3	intronic	BCCIP	BCCIP(uc021qar.1:c.*30T>G)	ENSG00000107949	Na	Na	Na	Na	Na	Na	Het;T>G	191;3|7	Hom;T>G	380;0|14
N	N	-	10	127524612	127524612	C	T	snp	intronic	 	 	 	 	BCCIP	Bccip	ENSG00000107949	BRCA2 and CDKN1A interacting protein	chr10:127512115-127542264	This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Coronary Artery Disease|Melanoma|Skin Neoplasms; breast cancer ; prostate cancer; Waist Circumference	 		GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0061101;neuroendocrine cell differentiation;IDA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0019908;nuclear cyclin-dependent protein kinase holoenzyme complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019207;kinase regulator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BCCIP	https://www.uniprot.org/uniprot/Q9P287		https://www.ncbi.nlm.nih.gov/omim/?term=611883	http://www.informatics.jax.org/searchtool/Search.do?query=BCCIP&submit=Quick%0D%3661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCCIP	rs4075326	0.44349	0	0	1	0	0	intronic	intronic	intronic	BCCIP	BCCIP	ENSG00000107949	Na	Na	Na	Na	Na	Na	Het;C>T	478;19|21	Hom;C>T	896;0|31
N	N	-	10	127530325	127530325	T	C	snp	synonymous SNV	A1530G	A510A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DHX32	Dhx32	ENSG00000089876	DEAH-box helicase 32 (putative)	chr10:127524906-127585005	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]	Waist Circumference; Coronary Artery Disease	 		GO:0000398;mRNA splicing, via spliceosome;IBA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX32	https://www.uniprot.org/uniprot/Q7L7V1		https://www.ncbi.nlm.nih.gov/omim/?term=607960	http://www.informatics.jax.org/searchtool/Search.do?query=DHX32&submit=Quick%0D%2079ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX32	rs3208565	0.454073	0.4985	0.4339	1	0	0	exonic	exonic	exonic	DHX32	DHX32	ENSG00000089876	synonymous SNV	synonymous SNV	unknown	DHX32:NM_018180:exon7:c.A1530G:p.A510A,	DHX32:uc001ljf.1:exon7:c.A1530G:p.A510A,DHX32:uc001ljg.1:exon8:c.A1530G:p.A510A,DHX32:uc001lje.1:exon4:c.A402G:p.A134A,	UNKNOWN	Het;T>C	270;22|14	Hom;T>C	1433;0|49
N	N	-	10	127585090	127585090	C	A	snp	upstream	 	 	 	 	DHX32	Dhx32	ENSG00000089876	DEAH-box helicase 32 (putative)	chr10:127524906-127585005	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]	Waist Circumference; Coronary Artery Disease	 		GO:0000398;mRNA splicing, via spliceosome;IBA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX32	https://www.uniprot.org/uniprot/Q7L7V1		https://www.ncbi.nlm.nih.gov/omim/?term=607960	http://www.informatics.jax.org/searchtool/Search.do?query=DHX32&submit=Quick%0D%2079ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX32	rs74635147	0	0	0	1	0	0	upstream	upstream	upstream	FANK1	DHX32,FANK1	ENSG00000089876,ENSG00000203780	Na	Na	Na	Na	Na	Na	Het;C>A	629;4|16	Hom;C>A	627;0|15
N	N	-	10	127585097	127585097	T	C	snp	upstream	 	 	 	 	DHX32	Dhx32	ENSG00000089876	DEAH-box helicase 32 (putative)	chr10:127524906-127585005	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]	Waist Circumference; Coronary Artery Disease	 		GO:0000398;mRNA splicing, via spliceosome;IBA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX32	https://www.uniprot.org/uniprot/Q7L7V1		https://www.ncbi.nlm.nih.gov/omim/?term=607960	http://www.informatics.jax.org/searchtool/Search.do?query=DHX32&submit=Quick%0D%2079ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX32	rs78188902	0	0	0	1	0	0	upstream	upstream	upstream	FANK1	DHX32,FANK1	ENSG00000089876,ENSG00000203780	Na	Na	Na	Na	Na	Na	Het;T>C	839;5|21	Hom;T>C	737;0|17
N	N	-	10	127585099	127585099	A	G	snp	upstream	 	 	 	 	DHX32	Dhx32	ENSG00000089876	DEAH-box helicase 32 (putative)	chr10:127524906-127585005	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]	Waist Circumference; Coronary Artery Disease	 		GO:0000398;mRNA splicing, via spliceosome;IBA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX32	https://www.uniprot.org/uniprot/Q7L7V1		https://www.ncbi.nlm.nih.gov/omim/?term=607960	http://www.informatics.jax.org/searchtool/Search.do?query=DHX32&submit=Quick%0D%2079ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX32	rs79920605	0	0	0	1	0	0	upstream	upstream	upstream	FANK1	DHX32,FANK1	ENSG00000089876,ENSG00000203780	Na	Na	Na	Na	Na	Na	Het;A>G	839;5|21	Hom;A>G	737;0|16
N	N	-	10	127585112	127585112	T	C	snp	UTR5	-83623T>C	 	 	 	FANK1	Fank1	ENSG00000203780	fibronectin type III and ankyrin repeat domains 1	chr10:127585108-127698161	Given the highly restricted expression of FANK1, it may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis.	Asthma|Hypersensitivity; Celiac Disease|; Coronary Artery Disease; Bipolar Disorder; Tobacco Use Disorder; Waist Circumference	Mice homozygous for a knock-out allele are viable and fertile; males show normal spermatogenesis with no detectable alterations in sperm morphology, count and motility or number of apoptotic cells in testes.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FANK1	https://www.uniprot.org/uniprot/Q8TC84		https://www.ncbi.nlm.nih.gov/omim/?term=611640	http://www.informatics.jax.org/searchtool/Search.do?query=FANK1&submit=Quick%0D%250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANK1	rs72832617	0	0	0	1	0	0	UTR5	UTR5	UTR5	FANK1(NM_145235:c.-100T>C)	FANK1(uc010quk.1:c.-83623T>C,uc001ljh.4:c.-100T>C,uc009yan.3:c.-100T>C)	ENSG00000203780(ENST00000368693:c.-100T>C,ENST00000368695:c.-83623T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	911;7|22	Hom;T>C	782;0|18
N	N	-	10	127585120	127585120	G	C	snp	UTR5	-83615G>C	 	 	 	FANK1	Fank1	ENSG00000203780	fibronectin type III and ankyrin repeat domains 1	chr10:127585108-127698161	Given the highly restricted expression of FANK1, it may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis.	Asthma|Hypersensitivity; Celiac Disease|; Coronary Artery Disease; Bipolar Disorder; Tobacco Use Disorder; Waist Circumference	Mice homozygous for a knock-out allele are viable and fertile; males show normal spermatogenesis with no detectable alterations in sperm morphology, count and motility or number of apoptotic cells in testes.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FANK1	https://www.uniprot.org/uniprot/Q8TC84		https://www.ncbi.nlm.nih.gov/omim/?term=611640	http://www.informatics.jax.org/searchtool/Search.do?query=FANK1&submit=Quick%0D%250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANK1	rs80288044	0	0	0	1	0	0	UTR5	UTR5	UTR5	FANK1(NM_145235:c.-92G>C)	FANK1(uc010quk.1:c.-83615G>C,uc001ljh.4:c.-92G>C,uc009yan.3:c.-92G>C)	ENSG00000203780(ENST00000368693:c.-92G>C,ENST00000368695:c.-83615G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	948;7|24	Hom;G>C	872;0|19
N	N	-	10	127585179	127585179	G	C	snp	UTR5	-83556G>C	 	 	 	FANK1	Fank1	ENSG00000203780	fibronectin type III and ankyrin repeat domains 1	chr10:127585108-127698161	Given the highly restricted expression of FANK1, it may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis.	Asthma|Hypersensitivity; Celiac Disease|; Coronary Artery Disease; Bipolar Disorder; Tobacco Use Disorder; Waist Circumference	Mice homozygous for a knock-out allele are viable and fertile; males show normal spermatogenesis with no detectable alterations in sperm morphology, count and motility or number of apoptotic cells in testes.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FANK1	https://www.uniprot.org/uniprot/Q8TC84		https://www.ncbi.nlm.nih.gov/omim/?term=611640	http://www.informatics.jax.org/searchtool/Search.do?query=FANK1&submit=Quick%0D%250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANK1	rs74162871	0.443091	0	0.5147	1	0	0	UTR5	UTR5	UTR5	FANK1(NM_145235:c.-33G>C)	FANK1(uc010quk.1:c.-83556G>C,uc001ljh.4:c.-33G>C,uc009yan.3:c.-33G>C)	ENSG00000203780(ENST00000368693:c.-33G>C,ENST00000368695:c.-83556G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1882;18|62	Hom;G>C	2359;5|62
N	N	-	10	127590076	127590076	T	G	snp	intronic	 	 	 	 	FANK1	Fank1	ENSG00000203780	fibronectin type III and ankyrin repeat domains 1	chr10:127585108-127698161	Given the highly restricted expression of FANK1, it may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis.	Asthma|Hypersensitivity; Celiac Disease|; Coronary Artery Disease; Bipolar Disorder; Tobacco Use Disorder; Waist Circumference	Mice homozygous for a knock-out allele are viable and fertile; males show normal spermatogenesis with no detectable alterations in sperm morphology, count and motility or number of apoptotic cells in testes.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FANK1	https://www.uniprot.org/uniprot/Q8TC84		https://www.ncbi.nlm.nih.gov/omim/?term=611640	http://www.informatics.jax.org/searchtool/Search.do?query=FANK1&submit=Quick%0D%250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANK1	rs4121002	0.445687	0	0	1	0	0	intronic	intronic	intronic	FANK1	FANK1	ENSG00000203780	Na	Na	Na	Na	Na	Na	Het;T>G	199;9|11	Hom;T>G	260;0|9
N	N	-	10	127660777	127660777	A	G	snp	ncRNA_exonic	 	 	 	 	FANK1-AS1																		rs10901491	0.369409	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FANK1-AS1	FANK1-AS1	ENSG00000233409	Na	Na	Na	Na	Na	Na	Het;A>G	1200;46|52	Hom;A>G	2983;0|103
N	N	-	10	127661022	127661022	G	A	snp	ncRNA_intronic	 	 	 	 	FANK1-AS1																		rs3812685	0.321086	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FANK1-AS1	FANK1-AS1	ENSG00000233409	Na	Na	Na	Na	Na	Na	Het;G>A	202;7|7	Hom;G>A	469;0|13
N	N	-	10	127661373	127661377	CGTGT	C	indel	ncRNA_exonic	 	 	 	 	FANK1-AS1																		rs141138335	0.321885	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FANK1-AS1	FANK1-AS1	ENSG00000233409	Na	Na	Na	Na	Na	Na	Het;-GTGT	2080;50|54	Hom;-GTGT	5438;0|123
N	N	-	10	127677374	127677374	A	G	snp	nonsynonymous SNV	A428G	N143S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FANK1	Fank1	ENSG00000203780	fibronectin type III and ankyrin repeat domains 1	chr10:127585108-127698161	Given the highly restricted expression of FANK1, it may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis.	Asthma|Hypersensitivity; Celiac Disease|; Coronary Artery Disease; Bipolar Disorder; Tobacco Use Disorder; Waist Circumference	Mice homozygous for a knock-out allele are viable and fertile; males show normal spermatogenesis with no detectable alterations in sperm morphology, count and motility or number of apoptotic cells in testes.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FANK1	https://www.uniprot.org/uniprot/Q8TC84		https://www.ncbi.nlm.nih.gov/omim/?term=611640	http://www.informatics.jax.org/searchtool/Search.do?query=FANK1&submit=Quick%0D%250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANK1	rs2280173	0.330072	0	0.4425	1	0	0	intronic	exonic	exonic	FANK1	FANK1	ENSG00000203780	Na	nonsynonymous SNV	unknown	Na	FANK1:uc010quk.1:exon4:c.A428G:p.N143S,	UNKNOWN	Het;A>G	193;2|7	Hom;A>G	128;0|4
N	N	-	10	127685323	127685323	C	T	snp	intronic	 	 	 	 	FANK1	Fank1	ENSG00000203780	fibronectin type III and ankyrin repeat domains 1	chr10:127585108-127698161	Given the highly restricted expression of FANK1, it may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis.	Asthma|Hypersensitivity; Celiac Disease|; Coronary Artery Disease; Bipolar Disorder; Tobacco Use Disorder; Waist Circumference	Mice homozygous for a knock-out allele are viable and fertile; males show normal spermatogenesis with no detectable alterations in sperm morphology, count and motility or number of apoptotic cells in testes.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FANK1	https://www.uniprot.org/uniprot/Q8TC84		https://www.ncbi.nlm.nih.gov/omim/?term=611640	http://www.informatics.jax.org/searchtool/Search.do?query=FANK1&submit=Quick%0D%250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANK1	rs10901503	0.333267	0	0	1	0	0	intronic	intronic	intronic	FANK1	FANK1	ENSG00000203780	Na	Na	Na	Na	Na	Na	Het;C>T	239;9|9	Hom;C>T	620;0|19
N	N	-	10	127708468	127708468	G	A	snp	intronic	 	 	 	 	ADAM12	Adam12	ENSG00000148848	ADAM metallopeptidase domain 12	chr10:127700950-128077024	This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]	radiographic knee osteoarthritis; Tobacco Use Disorder; Calcium; osteoarthritis; Alzheimer's disease; Alzheimer's disease 	Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.	Invadopodia formation	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007520;myoblast fusion;TAS|GO:0030198;extracellular matrix organization;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM12	https://www.uniprot.org/uniprot/O43184		https://www.ncbi.nlm.nih.gov/omim/?term=602714	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM12&submit=Quick%0D%9171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM12	rs35835884	0.329872	0	0	1	0	0	intronic	intronic	intronic	ADAM12	ADAM12	ENSG00000148848	Na	Na	Na	Na	Na	Na	Het;G>A	207;18|11	Hom;G>A	561;0|24
N	N	-	10	127753359	127753359	T	C	snp	intronic	 	 	 	 	ADAM12	Adam12	ENSG00000148848	ADAM metallopeptidase domain 12	chr10:127700950-128077024	This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]	radiographic knee osteoarthritis; Tobacco Use Disorder; Calcium; osteoarthritis; Alzheimer's disease; Alzheimer's disease 	Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.	Invadopodia formation	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007520;myoblast fusion;TAS|GO:0030198;extracellular matrix organization;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM12	https://www.uniprot.org/uniprot/O43184		https://www.ncbi.nlm.nih.gov/omim/?term=602714	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM12&submit=Quick%0D%9171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM12	rs56076315	0.0591054	0.1199	0.1783	1	0	0	intronic	intronic	intronic	ADAM12	ADAM12	ENSG00000148848	Na	Na	Na	Na	Na	Na	Het;T>C	566;22|26	Hom;T>C	1082;0|37
N	N	-	10	127893742	127893742	A	G	snp	intronic	 	 	 	 	ADAM12	Adam12	ENSG00000148848	ADAM metallopeptidase domain 12	chr10:127700950-128077024	This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]	radiographic knee osteoarthritis; Tobacco Use Disorder; Calcium; osteoarthritis; Alzheimer's disease; Alzheimer's disease 	Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.	Invadopodia formation	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007520;myoblast fusion;TAS|GO:0030198;extracellular matrix organization;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM12	https://www.uniprot.org/uniprot/O43184		https://www.ncbi.nlm.nih.gov/omim/?term=602714	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM12&submit=Quick%0D%9171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM12	rs10794065	0.788938	0	0	1	0	0	intronic	intronic	intronic	ADAM12	ADAM12	ENSG00000148848	Na	Na	Na	Na	Na	Na	Het;A>G	122;2|4	Hom;A>G	71;0|4
N	N	-	10	127893790	127893790	A	G	snp	intronic	 	 	 	 	ADAM12	Adam12	ENSG00000148848	ADAM metallopeptidase domain 12	chr10:127700950-128077024	This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]	radiographic knee osteoarthritis; Tobacco Use Disorder; Calcium; osteoarthritis; Alzheimer's disease; Alzheimer's disease 	Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.	Invadopodia formation	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007520;myoblast fusion;TAS|GO:0030198;extracellular matrix organization;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM12	https://www.uniprot.org/uniprot/O43184		https://www.ncbi.nlm.nih.gov/omim/?term=602714	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM12&submit=Quick%0D%9171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM12	rs10794066	0.788938	0	0	1	0	0	intronic	intronic	intronic	ADAM12	ADAM12	ENSG00000148848	Na	Na	Na	Na	Na	Na	Het;A>G	124;4|6	Hom;A>G	96;0|4
N	N	-	10	127893825	127893825	C	T	snp	intronic	 	 	 	 	ADAM12	Adam12	ENSG00000148848	ADAM metallopeptidase domain 12	chr10:127700950-128077024	This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]	radiographic knee osteoarthritis; Tobacco Use Disorder; Calcium; osteoarthritis; Alzheimer's disease; Alzheimer's disease 	Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.	Invadopodia formation	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007520;myoblast fusion;TAS|GO:0030198;extracellular matrix organization;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM12	https://www.uniprot.org/uniprot/O43184		https://www.ncbi.nlm.nih.gov/omim/?term=602714	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM12&submit=Quick%0D%9171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM12	rs10794067	0.788339	0	0	1	0	0	intronic	intronic	intronic	ADAM12	ADAM12	ENSG00000148848	Na	Na	Na	Na	Na	Na	Het;C>T	125;7|6	Hom;C>T	299;0|11
N	N	-	10	127893900	127893901	TA	T	indel	intronic	 	 	 	 	ADAM12	Adam12	ENSG00000148848	ADAM metallopeptidase domain 12	chr10:127700950-128077024	This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]	radiographic knee osteoarthritis; Tobacco Use Disorder; Calcium; osteoarthritis; Alzheimer's disease; Alzheimer's disease 	Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.	Invadopodia formation	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007520;myoblast fusion;TAS|GO:0030198;extracellular matrix organization;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM12	https://www.uniprot.org/uniprot/O43184		https://www.ncbi.nlm.nih.gov/omim/?term=602714	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM12&submit=Quick%0D%9171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM12	rs398097281	0.778155	0	0	1	0	0	intronic	intronic	intronic	ADAM12	ADAM12	ENSG00000148848	Na	Na	Na	Na	Na	Na	Het;-A	117;7|9	Hom;-A	289;0|15
N	N	-	10	128459833	128459833	C	T	snp	intergenic	 	 	 	 	C10orf90	D7Ertd443e	ENSG00000154493	chromosome 10 open reading frame 90	chr10:128113566-128359079		Coronary Artery Disease; Stroke; Body Weight Changes; Body Mass Index; Bone Density; Body Composition; Intercellular Adhesion Molecule-1; Forced Expiratory Volume; Cholesterol, LDL; Insulin	 			GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0042826;histone deacetylase binding;IBA|GO:0051393;alpha-actinin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/C10orf90	https://www.uniprot.org/uniprot/Q96M02			http://www.informatics.jax.org/searchtool/Search.do?query=C10orf90&submit=Quick%0D%9776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf90	rs4962612	0.530551	0	0	1	0	0	intergenic	intergenic	intergenic	C10orf90(dist=249823),DOCK1(dist=134145)	C10orf90(dist=100754),DOCK1(dist=134190)	ENSG00000154493(dist=100754),ENSG00000199321(dist=8438)	Na	Na	Na	Na	Na	Na	Het;C>T	480;12|17	Hom;C>T	951;0|32
N	N	-	10	128459850	128459850	C	T	snp	intergenic	 	 	 	 	C10orf90	D7Ertd443e	ENSG00000154493	chromosome 10 open reading frame 90	chr10:128113566-128359079		Coronary Artery Disease; Stroke; Body Weight Changes; Body Mass Index; Bone Density; Body Composition; Intercellular Adhesion Molecule-1; Forced Expiratory Volume; Cholesterol, LDL; Insulin	 			GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0042826;histone deacetylase binding;IBA|GO:0051393;alpha-actinin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/C10orf90	https://www.uniprot.org/uniprot/Q96M02			http://www.informatics.jax.org/searchtool/Search.do?query=C10orf90&submit=Quick%0D%9776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf90	rs4962613	0.45028	0	0	1	0	0	intergenic	intergenic	intergenic	C10orf90(dist=249840),DOCK1(dist=134128)	C10orf90(dist=100771),DOCK1(dist=134173)	ENSG00000154493(dist=100771),ENSG00000199321(dist=8421)	Na	Na	Na	Na	Na	Na	Het;C>T	580;15|25	Hom;C>T	1173;0|43
N	N	-	10	128810820	128810820	G	A	snp	ncRNA_intronic	 	 	 	 	AL359094.1																		rs1340242	0.652157	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DOCK1	DOCK1	ENSG00000223528	Na	Na	Na	Na	Na	Na	Het;G>A	96;1|4	Hom;G>A	210;0|7
N	N	-	10	128821616	128821616	T	G	snp	ncRNA_intronic	 	 	 	 	AL359094.1																		rs9418791	0.40615	0.3979	0.3903	1	0	0	intronic	intronic	ncRNA_intronic	DOCK1	DOCK1	ENSG00000223528,ENSG00000232935	Na	Na	Na	Na	Na	Na	Het;T>G	807;53|36	Hom;T>G	2815;0|98
N	N	-	10	128821636	128821636	C	T	snp	ncRNA_intronic	 	 	 	 	AL359094.1																		rs9418698	0.40615	0.3977	0.3903	1	0	0	intronic	intronic	ncRNA_intronic	DOCK1	DOCK1	ENSG00000223528,ENSG00000232935	Na	Na	Na	Na	Na	Na	Het;C>T	683;40|32	Hom;C>T	1846;0|66
N	N	-	10	128822873	128822873	A	G	snp	ncRNA_intronic	 	 	 	 	AL359094.1																		rs3818879	0.40615	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DOCK1	DOCK1	ENSG00000223528,ENSG00000232935	Na	Na	Na	Na	Na	Na	Het;A>G	298;7|12	Hom;A>G	443;0|14
N	N	-	10	128822886	128822886	G	A	snp	ncRNA_intronic	 	 	 	 	AL359094.1																		rs3818880	0.348243	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DOCK1	DOCK1	ENSG00000223528,ENSG00000232935	Na	Na	Na	Na	Na	Na	Het;G>A	443;9|19	Hom;G>A	569;0|20
N	N	-	10	129182958	129182958	C	T	snp	intronic	 	 	 	 	DOCK1	Dock1	ENSG00000150760	dedicator of cytokinesis 1	chr10:128593978-129250781	This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Alzheimer's disease ; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Asthma|Hypersensitivity; Stroke; Body Weight; Magnesium; Tobacco Use Disorder	Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.	Factors involved in megakaryocyte development and platelet production	GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;TAS|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0016477;cell migration;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK1	https://www.uniprot.org/uniprot/Q14185		https://www.ncbi.nlm.nih.gov/omim/?term=601403	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK1&submit=Quick%0D%9348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK1	rs878564	0.76877	0	0	1	0	0	intronic	intronic	intronic	DOCK1	DOCK1	ENSG00000150760	Na	Na	Na	Na	Na	Na	Het;C>T	232;2|9	Hom;C>T	616;0|19
N	N	-	10	129183015	129183015	T	G	snp	intronic	 	 	 	 	DOCK1	Dock1	ENSG00000150760	dedicator of cytokinesis 1	chr10:128593978-129250781	This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Alzheimer's disease ; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Asthma|Hypersensitivity; Stroke; Body Weight; Magnesium; Tobacco Use Disorder	Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.	Factors involved in megakaryocyte development and platelet production	GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;TAS|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0016477;cell migration;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK1	https://www.uniprot.org/uniprot/Q14185		https://www.ncbi.nlm.nih.gov/omim/?term=601403	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK1&submit=Quick%0D%9348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK1	rs878562	0.769169	0.7519	0.7377	1	0	0	intronic	intronic	intronic	DOCK1	DOCK1	ENSG00000150760	Na	Na	Na	Na	Na	Na	Het;T>G	556;15|21	Hom;T>G	1969;0|67
N	N	-	10	130665951	130665951	C	T	snp	intergenic	 	 	 	 	AL390763.1																		rs7911779	0.38758	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01163(dist=549961),MGMT(dist=599503)	AK124226(dist=549961),MGMT(dist=599503)	ENSG00000234640(dist=547473),ENSG00000224190(dist=45192)	Na	Na	Na	Na	Na	Na	Het;C>T	108;9|7	Hom;C>T	277;0|10
N	N	-	10	130666009	130666009	C	T	snp	intergenic	 	 	 	 	AL390763.1																		rs7350436	0.354633	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01163(dist=550019),MGMT(dist=599445)	AK124226(dist=550019),MGMT(dist=599445)	ENSG00000234640(dist=547531),ENSG00000224190(dist=45134)	Na	Na	Na	Na	Na	Na	Het;C>T	171;17|11	Hom;C>T	738;0|28
N	N	-	10	13158262	13158262	C	T	snp	intronic	 	 	 	 	OPTN	Optn	ENSG00000123240	optineurin	chr10:13141449-13180291	This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Glaucoma, Open-Angle; glaucoma; glaucoma, primary open-angle; Osteitis Deformans; Paget's disease; Wide-angle glaucoma; glaucoma Leber's hereditary optic neuropathy optic atrophy, autosomal dominant; glaucoma, primary open-angle; Retinal Diseases; glaucoma, early-onset glaucoma, normal tension; open-angle glaucoma; normal tension glaucoma; glaucoma; primary open-angle glaucoma; glaucoma, normal-tension glaucoma, primary open-angle; Alzheimer's disease ; glaucoma, primary open-angle; glaucoma, normal tension	Mice hypomorphic allele exhibit background sensitive embryonic lethality with surviving mice exhibiting normal immune cell development, T and B cell activation and TNF- or LPS-mediated activation of cells of the innate immune system.	TBC/RABGAPs	GO:0000042;protein targeting to Golgi;IMP|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0001920;negative regulation of receptor recycling;IMP|GO:0006914;autophagy;IEA|GO:0007030;Golgi organization;IMP|GO:0007165;signal transduction;TAS|GO:0008219;cell death;TAS|GO:0010508;positive regulation of autophagy;IDA|GO:0016192;vesicle-mediated transport;IEA|GO:0034613;cellular protein localization;IEA|GO:0034620;cellular response to unfolded protein;IMP|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0050829;defense response to Gram-negative bacterium;IMP|GO:0061024;membrane organization;TAS|GO:0061734;parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP|GO:0090161;Golgi ribbon formation;IDA|GO:1904417;positive regulation of xenophagy;IMP	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005768;endosome;IEA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055037;recycling endosome;IEA|GO:0055038;recycling endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030674;protein binding, bridging;IPI|GO:0031593;polyubiquitin binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043130;ubiquitin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070530;K63-linked polyubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OPTN	https://www.uniprot.org/uniprot/Q96CV9	https://hpo.jax.org/app/browse/search?q=OPTN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602432	http://www.informatics.jax.org/searchtool/Search.do?query=OPTN&submit=Quick%0D%5504ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OPTN	rs2244380	0.803914	0.8189	0.8156	1	0	0	intronic	intronic	intronic	OPTN	OPTN	ENSG00000123240	Na	Na	Na	Na	Na	Na	Het;C>T	555;38|29	Hom;C>T	1990;0|75
N	N	-	10	13164596	13164596	A	G	snp	intronic	 	 	 	 	OPTN	Optn	ENSG00000123240	optineurin	chr10:13141449-13180291	This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Glaucoma, Open-Angle; glaucoma; glaucoma, primary open-angle; Osteitis Deformans; Paget's disease; Wide-angle glaucoma; glaucoma Leber's hereditary optic neuropathy optic atrophy, autosomal dominant; glaucoma, primary open-angle; Retinal Diseases; glaucoma, early-onset glaucoma, normal tension; open-angle glaucoma; normal tension glaucoma; glaucoma; primary open-angle glaucoma; glaucoma, normal-tension glaucoma, primary open-angle; Alzheimer's disease ; glaucoma, primary open-angle; glaucoma, normal tension	Mice hypomorphic allele exhibit background sensitive embryonic lethality with surviving mice exhibiting normal immune cell development, T and B cell activation and TNF- or LPS-mediated activation of cells of the innate immune system.	TBC/RABGAPs	GO:0000042;protein targeting to Golgi;IMP|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0001920;negative regulation of receptor recycling;IMP|GO:0006914;autophagy;IEA|GO:0007030;Golgi organization;IMP|GO:0007165;signal transduction;TAS|GO:0008219;cell death;TAS|GO:0010508;positive regulation of autophagy;IDA|GO:0016192;vesicle-mediated transport;IEA|GO:0034613;cellular protein localization;IEA|GO:0034620;cellular response to unfolded protein;IMP|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0050829;defense response to Gram-negative bacterium;IMP|GO:0061024;membrane organization;TAS|GO:0061734;parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP|GO:0090161;Golgi ribbon formation;IDA|GO:1904417;positive regulation of xenophagy;IMP	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005768;endosome;IEA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055037;recycling endosome;IEA|GO:0055038;recycling endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030674;protein binding, bridging;IPI|GO:0031593;polyubiquitin binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043130;ubiquitin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070530;K63-linked polyubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OPTN	https://www.uniprot.org/uniprot/Q96CV9	https://hpo.jax.org/app/browse/search?q=OPTN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602432	http://www.informatics.jax.org/searchtool/Search.do?query=OPTN&submit=Quick%0D%5504ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OPTN	rs489040	0.493211	0	0	1	0	0	intronic	intronic	intronic	OPTN	OPTN	ENSG00000123240	Na	Na	Na	Na	Na	Na	Het;A>G	102;6|4	Hom;A>G	691;0|20
N	N	-	10	13206233	13206233	A	T	snp	intronic	 	 	 	 	MCM10	Mcm10	ENSG00000065328	minichromosome maintenance 10 replication initiation factor	chr10:13203554-13253104	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]	Hematocrit; diabetes, type 2; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit reduced embryonic cell proliferation and early embryonic letahlity.	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008283;cell proliferation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0031298;replication fork protection complex;IBA	GO:0003677;DNA binding;IEA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MCM10	https://www.uniprot.org/uniprot/Q7L590		https://www.ncbi.nlm.nih.gov/omim/?term=609357	http://www.informatics.jax.org/searchtool/Search.do?query=MCM10&submit=Quick%0D%1169ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM10	rs7090944	0.796925	0.7483	0.7979	1	0	0	intronic	intronic	intronic	MCM10	MCM10	ENSG00000065328	Na	Na	Na	Na	Na	Na	Het;A>T	519;36|28	Hom;A>T	1641;0|63
N	N	-	10	132227810	132227810	T	C	snp	intergenic	 	 	 	 	GLRX3	Glrx3	ENSG00000108010	glutaredoxin 3	chr10:131934663-131982785	This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]	Heart Rate; Hypertension; Hypertrophy, Left Ventricular; Speech Perception; Uric Acid; Alzheimer's disease ; Stroke; longevity; HIV-1; Breath Tests	Homozygotes for a gene trap allele die during late organogenesis/early fetal development with decreased embryo size, pericardial effusions and open anterior neural tubes. Homozygotes for a null allele show decreased embryo size, failure to gastrulate, and complete lethality prior to organogenesis.	Iron uptake and transport	GO:0002026;regulation of the force of heart contraction;ISS|GO:0010614;negative regulation of cardiac muscle hypertrophy;ISS|GO:0044571;[2Fe-2S] cluster assembly;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097428;protein maturation by iron-sulfur cluster transfer;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0030018;Z disc;IEA|GO:0030425;dendrite;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLRX3	https://www.uniprot.org/uniprot/O76003		https://www.ncbi.nlm.nih.gov/omim/?term=612754	http://www.informatics.jax.org/searchtool/Search.do?query=GLRX3&submit=Quick%0D%3670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX3	rs326605	0.814497	0	0	1	0	0	intergenic	intergenic	intergenic	GLRX3(dist=249164),MIR378C(dist=533041)	NONE(dist=NONE),MIR378C(dist=533041)	ENSG00000108010(dist=245025),ENSG00000236303(dist=9521)	Na	Na	Na	Na	Na	Na	Het;T>C	101;6|4	Hom;T>C	561;0|19
N	N	-	10	13275437	13275437	A	G	snp	intronic	 	 	 	 	UCMA	Ucma	ENSG00000165623	upper zone of growth plate and cartilage matrix associated	chr10:13263767-13276334	This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]		Mice homozygous for a knock-out allele exhibit normal skeleton phenotype.		GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0016235;aggresome;IEA|GO:0048471;perinuclear region of cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/UCMA				http://www.informatics.jax.org/searchtool/Search.do?query=UCMA&submit=Quick%0D%11581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UCMA	rs41291315	0.3123	0	0	1	0	0	intronic	intronic	intronic	UCMA	UCMA	ENSG00000165623	Na	Na	Na	Na	Na	Na	Het;A>G	101;2|4	Hom;A>G	616;0|20
N	N	-	10	133035328	133035328	A	G	snp	intronic	 	 	 	 	TCERG1L	Tcerg1l	ENSG00000176769	transcription elongation regulator 1 like	chr10:132890654-133109984		Hypertrophy, Left Ventricular; Tobacco Use Disorder; Alzheimer's disease ; Diabetes Mellitus, Type 2; Stroke; Crohn Disease; ADHD	 					http://www.genecards.org/index.php?path=/Search/keyword/TCERG1L				http://www.informatics.jax.org/searchtool/Search.do?query=TCERG1L&submit=Quick%0D%13907ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCERG1L	rs11017832	0.444289	0	0	1	0	0	intronic	intronic	intronic	TCERG1L	TCERG1L	ENSG00000176769	Na	Na	Na	Na	Na	Na	Het;A>G	201;9|11	Hom;A>G	351;0|14
N	N	-	10	133259867	133259867	G	A	snp	intergenic	 	 	 	 	TCERG1L	Tcerg1l	ENSG00000176769	transcription elongation regulator 1 like	chr10:132890654-133109984		Hypertrophy, Left Ventricular; Tobacco Use Disorder; Alzheimer's disease ; Diabetes Mellitus, Type 2; Stroke; Crohn Disease; ADHD	 					http://www.genecards.org/index.php?path=/Search/keyword/TCERG1L				http://www.informatics.jax.org/searchtool/Search.do?query=TCERG1L&submit=Quick%0D%13907ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCERG1L	rs12776538	0.0527157	0	0	1	0	0	intergenic	intergenic	intergenic	TCERG1L(dist=149883),LINC01164(dist=344867)	TCERG1L(dist=149883),FLJ46300(dist=344867)	ENSG00000176769(dist=149883),ENSG00000265977(dist=229648)	Na	Na	Na	Na	Na	Na	Het;G>A	493;34|23	Hom;G>A	1562;0|56
N	N	-	10	133330519	133330519	G	A	snp	intergenic	 	 	 	 	TCERG1L	Tcerg1l	ENSG00000176769	transcription elongation regulator 1 like	chr10:132890654-133109984		Hypertrophy, Left Ventricular; Tobacco Use Disorder; Alzheimer's disease ; Diabetes Mellitus, Type 2; Stroke; Crohn Disease; ADHD	 					http://www.genecards.org/index.php?path=/Search/keyword/TCERG1L				http://www.informatics.jax.org/searchtool/Search.do?query=TCERG1L&submit=Quick%0D%13907ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCERG1L	rs10830029	0.468051	0	0	1	0	0	intergenic	intergenic	intergenic	TCERG1L(dist=220535),LINC01164(dist=274215)	TCERG1L(dist=220535),FLJ46300(dist=274215)	ENSG00000176769(dist=220535),ENSG00000265977(dist=158996)	Na	Na	Na	Na	Na	Na	Het;G>A	170;4|9	Hom;G>A	160;0|6
N	N	-	10	133375112	133375112	T	G	snp	intergenic	 	 	 	 	TCERG1L	Tcerg1l	ENSG00000176769	transcription elongation regulator 1 like	chr10:132890654-133109984		Hypertrophy, Left Ventricular; Tobacco Use Disorder; Alzheimer's disease ; Diabetes Mellitus, Type 2; Stroke; Crohn Disease; ADHD	 					http://www.genecards.org/index.php?path=/Search/keyword/TCERG1L				http://www.informatics.jax.org/searchtool/Search.do?query=TCERG1L&submit=Quick%0D%13907ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCERG1L	rs11018065	0.592851	0	0	1	0	0	intergenic	intergenic	intergenic	TCERG1L(dist=265128),LINC01164(dist=229622)	TCERG1L(dist=265128),FLJ46300(dist=229622)	ENSG00000176769(dist=265128),ENSG00000265977(dist=114403)	Na	Na	Na	Na	Na	Na	Het;T>G	40;3|2	Hom;T>G	102;0|4
N	N	-	10	133607904	133607904	G	A	snp	unknown	 	 	 	 	LINC01164																		rs4897781	0.583666	0	0.5930	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	LINC01164	FLJ46300	ENSG00000189275	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	1185;76|58	Hom;G>A	4978;0|135
N	N	-	10	133607947	133607947	T	G	snp	unknown	 	 	 	 	LINC01164																		rs4897740	0.584465	0	0.5324	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	LINC01164	FLJ46300	ENSG00000189275	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>G	2160;78|57	Hom;T>G	5397;0|152
N	N	-	10	133608210	133608210	A	G	snp	unknown	 	 	 	 	LINC01164																		rs4897741	0.585264	0	0.5294	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	LINC01164	FLJ46300	ENSG00000189275	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	1085;80|51	Hom;A>G	3582;1|126
N	N	-	10	13370315	13370315	C	T	snp	intronic	 	 	 	 	SEPHS1	Sephs1	ENSG00000086475	selenophosphate synthetase 1	chr10:13359424-13390297	This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]	Alzheimer's disease ; Cholesterol, HDL; Body Mass Index; Forced Expiratory Volume; Fibrinogen	Mice homozygous for a knock-out allele exhibit embryonic growth retardation and complete lethality by E14.5 with failure of the amnion to separate from the yolk sac. Mice homozygous for a conditional allele activated in the liver exhibit reduced liver iron and manganese levels.		GO:0006464;cellular protein modification process;TAS|GO:0016310;phosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004756;selenide, water dikinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0005525;GTP binding;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEPHS1	https://www.uniprot.org/uniprot/P49903		https://www.ncbi.nlm.nih.gov/omim/?term=600902	http://www.informatics.jax.org/searchtool/Search.do?query=SEPHS1&submit=Quick%0D%1924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEPHS1	rs3740211	0.500599	0.4055	0.5343	1	0	0	intronic	intronic	intronic	SEPHS1	SEPHS1	ENSG00000086475	Na	Na	Na	Na	Na	Na	Het;C>T	1141;79|60	Hom;C>T	2853;0|109
N	N	-	10	13375906	13375906	T	C	snp	synonymous SNV	A471G	T157T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SEPHS1	Sephs1	ENSG00000086475	selenophosphate synthetase 1	chr10:13359424-13390297	This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]	Alzheimer's disease ; Cholesterol, HDL; Body Mass Index; Forced Expiratory Volume; Fibrinogen	Mice homozygous for a knock-out allele exhibit embryonic growth retardation and complete lethality by E14.5 with failure of the amnion to separate from the yolk sac. Mice homozygous for a conditional allele activated in the liver exhibit reduced liver iron and manganese levels.		GO:0006464;cellular protein modification process;TAS|GO:0016310;phosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004756;selenide, water dikinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0005525;GTP binding;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEPHS1	https://www.uniprot.org/uniprot/P49903		https://www.ncbi.nlm.nih.gov/omim/?term=600902	http://www.informatics.jax.org/searchtool/Search.do?query=SEPHS1&submit=Quick%0D%1924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEPHS1	rs10752297	0.677915	0.6221	0.6328	1	0	0	exonic	exonic	exonic	SEPHS1	SEPHS1	ENSG00000086475	synonymous SNV	synonymous SNV	unknown	SEPHS1:NM_001195602:exon4:c.A270G:p.T90T,SEPHS1:NM_012247:exon5:c.A471G:p.T157T,SEPHS1:NM_001195604:exon5:c.A471G:p.T157T,	SEPHS1:uc021pnd.1:exon5:c.A471G:p.T157T,SEPHS1:uc001imk.3:exon5:c.A471G:p.T157T,SEPHS1:uc021pnc.1:exon5:c.A471G:p.T157T,SEPHS1:uc001imh.3:exon2:c.A243G:p.T81T,SEPHS1:uc010qbt.2:exon4:c.A270G:p.T90T,SEPHS1:uc010qbs.2:exon3:c.A327G:p.T109T,SEPHS1:uc009xje.3:exon5:c.A471G:p.T157T,	UNKNOWN	Het;T>C	916;27|44	Hom;T>C	1697;0|65
N	N	-	10	13378445	13378445	A	G	snp	UTR5	-26T>C	 	 	 	SEPHS1	Sephs1	ENSG00000086475	selenophosphate synthetase 1	chr10:13359424-13390297	This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]	Alzheimer's disease ; Cholesterol, HDL; Body Mass Index; Forced Expiratory Volume; Fibrinogen	Mice homozygous for a knock-out allele exhibit embryonic growth retardation and complete lethality by E14.5 with failure of the amnion to separate from the yolk sac. Mice homozygous for a conditional allele activated in the liver exhibit reduced liver iron and manganese levels.		GO:0006464;cellular protein modification process;TAS|GO:0016310;phosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004756;selenide, water dikinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0005525;GTP binding;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEPHS1	https://www.uniprot.org/uniprot/P49903		https://www.ncbi.nlm.nih.gov/omim/?term=600902	http://www.informatics.jax.org/searchtool/Search.do?query=SEPHS1&submit=Quick%0D%1924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEPHS1	rs2275128	0.683706	0	0.6462	1	0	0	intronic	UTR5	intronic	SEPHS1	SEPHS1(uc001imh.3:c.-26T>C)	ENSG00000086475	Na	Na	Na	Na	Na	Na	Het;A>G	288;12|12	Hom;A>G	690;0|23
N	N	-	10	133958541	133958541	C	T	snp	intronic	 	 	 	 	JAKMIP3	Jakmip3	ENSG00000188385	Janus kinase and microtubule interacting protein 3	chr10:133918175-133998313		Alzheimer's disease ; Echocardiography; Stroke	 			GO:0005794;Golgi apparatus;IEA	GO:0008017;microtubule binding;IEA|GO:0019900;kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JAKMIP3			https://www.ncbi.nlm.nih.gov/omim/?term=611198	http://www.informatics.jax.org/searchtool/Search.do?query=JAKMIP3&submit=Quick%0D%16026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JAKMIP3	rs2637627	0.764577	0	0	1	0	0	intronic	intronic	intronic	JAKMIP3	JAKMIP3	ENSG00000188385	Na	Na	Na	Na	Na	Na	Het;C>T	115;15|6	Hom;C>T	540;0|20
N	N	-	10	133981422	133981422	C	T	snp	intronic	 	 	 	 	JAKMIP3	Jakmip3	ENSG00000188385	Janus kinase and microtubule interacting protein 3	chr10:133918175-133998313		Alzheimer's disease ; Echocardiography; Stroke	 			GO:0005794;Golgi apparatus;IEA	GO:0008017;microtubule binding;IEA|GO:0019900;kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JAKMIP3			https://www.ncbi.nlm.nih.gov/omim/?term=611198	http://www.informatics.jax.org/searchtool/Search.do?query=JAKMIP3&submit=Quick%0D%16026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JAKMIP3	rs2637650	0.155751	0	0.1938	1	0	0	intronic	intronic	intronic	JAKMIP3	JAKMIP3	ENSG00000188385	Na	Na	Na	Na	Na	Na	Het;C>T	656;10|17	Hom;C>T	1014;0|29
N	N	-	10	134010435	134010436	AG	A	indel	intronic	 	 	 	 	DPYSL4	Dpysl4	ENSG00000151640	dihydropyrimidinase like 4	chr10:134000404-134019280			Homozygous null mice exhibit abnormal neurite outgrowth and lamination in the hippocampus, altered dendrite arborization and spine morphology in hippocampal pyramidal cells, and impaired LTP induction in the CA1 region.	CRMPs in Sema3A signaling	GO:0007399;nervous system development;TAS|GO:0070997;neuron death;IEA|GO:0097485;neuron projection guidance;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0031005;filamin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DPYSL4	https://www.uniprot.org/uniprot/O14531		https://www.ncbi.nlm.nih.gov/omim/?term=608407	http://www.informatics.jax.org/searchtool/Search.do?query=DPYSL4&submit=Quick%0D%9447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPYSL4	rs78726081	0.143371	0.2078	0.2176	1	0	0	intronic	intronic	intronic	DPYSL4	DPYSL4	ENSG00000151640	Na	Na	Na	Na	Na	Na	Het;-G	2548;92|83	Hom;-G	5254;0|142
N	N	-	10	134017295	134017295	A	G	snp	synonymous SNV	A1491G	G497G	aliphatic,neutral	aliphatic,neutral	DPYSL4	Dpysl4	ENSG00000151640	dihydropyrimidinase like 4	chr10:134000404-134019280			Homozygous null mice exhibit abnormal neurite outgrowth and lamination in the hippocampus, altered dendrite arborization and spine morphology in hippocampal pyramidal cells, and impaired LTP induction in the CA1 region.	CRMPs in Sema3A signaling	GO:0007399;nervous system development;TAS|GO:0070997;neuron death;IEA|GO:0097485;neuron projection guidance;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0031005;filamin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DPYSL4	https://www.uniprot.org/uniprot/O14531		https://www.ncbi.nlm.nih.gov/omim/?term=608407	http://www.informatics.jax.org/searchtool/Search.do?query=DPYSL4&submit=Quick%0D%9447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPYSL4	rs12313	0.841653	0.7909	0.8348	1	0	0	exonic	exonic	exonic	DPYSL4	DPYSL4	ENSG00000151640	synonymous SNV	synonymous SNV	unknown	DPYSL4:NM_006426:exon13:c.A1491G:p.G497G,	DPYSL4:uc009ybb.3:exon13:c.A1491G:p.G497G,	UNKNOWN	Het;A>G	1046;46|47	Hom;A>G	2382;0|86
N	N	-	10	134021031	134021031	C	CTA	indel	UTR3	*483G>TAG	 	 	 	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs10654960	0.848442	0	0	1	0	0	UTR3	UTR3	UTR3	STK32C(NM_173575:c.*483G>TAG)	STK32C(uc001lld.1:c.*483G>TAG,uc001lle.1:c.*483G>TAG,uc010quu.1:c.*483G>TAG)	ENSG00000165752(ENST00000298630:c.*483G>TAG,ENST00000368622:c.*483G>TAG,ENST00000462160:c.*685G>TAG)	Na	Na	Na	Na	Na	Na	Het;+TA	1663;45|43	Hom;+TA	3550;0|78
N	N	-	10	134021118	134021118	C	A	snp	UTR3	*396G>T	 	 	 	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs2818413	0.846046	0	0	1	0	0	UTR3	UTR3	UTR3	STK32C(NM_173575:c.*396G>T)	STK32C(uc001lld.1:c.*396G>T,uc001lle.1:c.*396G>T,uc010quu.1:c.*396G>T)	ENSG00000165752(ENST00000298630:c.*396G>T,ENST00000368622:c.*396G>T,ENST00000462160:c.*598G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1308;66|66	Hom;C>A	3380;0|130
N	N	-	10	134021740	134021740	G	A	snp	intronic	 	 	 	 	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs923659	0.957069	0	0	1	0	0	intronic	intronic	intronic	STK32C	STK32C	ENSG00000165752	Na	Na	Na	Na	Na	Na	Het;G>A	148;6|6	Hom;G>A	283;0|11
N	N	-	10	134036053	134036053	G	A	snp	intronic	 	 	 	 	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs2814197	0.766174	0	0	1	0	0	intronic	intronic	intronic	STK32C	STK32C	ENSG00000165752	Na	Na	Na	Na	Na	Na	Het;G>A	131;3|4	Hom;G>A	769;0|17
N	N	-	10	134036057	134036057	C	T	snp	intronic	 	 	 	 	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs2637635	0.766374	0	0	1	0	0	intronic	intronic	intronic	STK32C	STK32C	ENSG00000165752	Na	Na	Na	Na	Na	Na	Het;C>T	131;3|4	Hom;C>T	769;0|18
N	N	-	10	134036073	134036073	G	A	snp	intronic	 	 	 	 	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs2814196	0.765176	0	0	1	0	0	intronic	intronic	intronic	STK32C	STK32C	ENSG00000165752	Na	Na	Na	Na	Na	Na	Het;G>A	101;4|5	Hom;G>A	474;0|18
N	N	-	10	134036193	134036193	A	G	snp	synonymous SNV	T1203C	R401R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs2818401	0.766174	0.7522	0.7926	1	0	0	exonic	exonic	exonic	STK32C	STK32C	ENSG00000165752	synonymous SNV	synonymous SNV	unknown	STK32C:NM_173575:exon10:c.T1203C:p.R401R,	STK32C:uc001lle.1:exon10:c.T1203C:p.R401R,STK32C:uc010quu.1:exon10:c.T1242C:p.R414R,STK32C:uc001lld.1:exon10:c.T852C:p.R284R,	UNKNOWN	Het;A>G	360;23|18	Hom;A>G	1788;0|66
N	N	-	10	134036596	134036596	G	C	snp	intronic	 	 	 	 	STK32C	Stk32c	ENSG00000165752	serine/threonine kinase 32C	chr10:134020996-134145351	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 diabetes	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32C				http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C	rs1994688	0.746006	0	0	1	0	0	intronic	intronic	intronic	STK32C	STK32C	ENSG00000165752	Na	Na	Na	Na	Na	Na	Het;G>C	40;5|3	Hom;G>C	475;0|17
N	N	-	10	134699153	134699153	C	T	snp	intronic	 	 	 	 	CFAP46																		rs55732610	0.252396	0	0	1	0	0	intronic	intronic	intronic	CFAP46	TTC40	ENSG00000171811	Na	Na	Na	Na	Na	Na	Het;C>T	247;1|9	Hom;C>T	388;0|13
N	N	-	10	134881413	134881413	G	C	snp	intergenic	 	 	 	 	LINC01168																		rs12770790	0.572484	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01168(dist=91412),ADGRA1-AS1(dist=17340)	LOC399829(dist=91412),GPR123(dist=3020)	ENSG00000240707(dist=91555),ENSG00000197177(dist=3020)	Na	Na	Na	Na	Na	Na	Het;G>C	166;3|9	Hom;G>C	155;0|8
N	N	-	10	134902398	134902398	C	T	snp	synonymous SNV	C1617T	R539R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	GPR123																		rs10776693	0.742812	0.7337	0.7315	1	0	0	UTR5	exonic	exonic	ADGRA1(NM_001083909:c.-16C>T)	GPR123	ENSG00000197177	Na	synonymous SNV	unknown	Na	GPR123:uc001llw.3:exon9:c.C1617T:p.R539R,	UNKNOWN	Het;C>T	336;29|18	Hom;C>T	732;0|23
N	N	-	10	135076758	135076758	T	C	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs3008318	0.895168	0.8948	0.8945	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;T>C	205;6|10	Hom;T>C	538;0|20
N	N	-	10	135077311	135077311	C	G	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs2995301	0.891773	0.8961	0.8995	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;C>G	466;26|23	Hom;C>G	1549;0|58
N	N	-	10	135082346	135082346	A	G	snp	nonsynonymous SNV	T1774C	F592L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs2275720	0.824281	0.801	0.8605	0.14	1	7	exonic	exonic	exonic	ADAM8	ADAM8	ENSG00000151651	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAM8:NM_001164490:exon17:c.T1774C:p.F592L,ADAM8:NM_001109:exon19:c.T1969C:p.F657L,	ADAM8:uc021qbe.1:exon19:c.T1969C:p.F657L,ADAM8:uc010qva.2:exon17:c.T1774C:p.F592L,	UNKNOWN	Het;A>G	1551;105|79	Hom;A>G	4396;0|165
N	N	-	10	135082874	135082874	G	A	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs2995311	0.891573	0	0	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;G>A	147;8|8	Hom;G>A	551;0|20
N	N	-	10	135083164	135083164	C	T	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs2275719	0.893171	0	0	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;C>T	98;6|5	Hom;C>T	305;0|10
N	N	-	10	135084232	135084232	C	CAGA	indel	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs10632315	0.867412	0.8653	0.8742	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;+AGA	497;18|14	Hom;+AGA	1122;0|25
N	N	-	10	135084322	135084322	A	G	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs3008321	0.902556	0.9016	0.8956	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;A>G	308;48|18	Hom;A>G	1183;0|42
N	N	-	10	135084601	135084601	T	C	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs2995314	0.902955	0.9033	0.8976	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;T>C	187;23|12	Hom;T>C	857;0|31
N	N	-	10	135085321	135085321	C	T	snp	synonymous SNV	G1095A	A365A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs1131720	0.846645	0.8485	0.8761	1	0	0	exonic	exonic	exonic	ADAM8	ADAM8	ENSG00000151651	synonymous SNV	synonymous SNV	unknown	ADAM8:NM_001164489:exon11:c.G1095A:p.A365A,ADAM8:NM_001164490:exon10:c.G978A:p.A326A,ADAM8:NM_001109:exon11:c.G1095A:p.A365A,	ADAM8:uc009ybi.3:exon11:c.G1095A:p.A365A,ADAM8:uc021qbe.1:exon11:c.G1095A:p.A365A,ADAM8:uc010qva.2:exon10:c.G978A:p.A326A,	UNKNOWN	Het;C>T	947;39|47	Hom;C>T	2494;0|94
N	N	-	10	135085426	135085426	A	G	snp	synonymous SNV	T990C	C330C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs1131719	0.91893	0.9196	0.9017	1	0	0	exonic	exonic	exonic	ADAM8	ADAM8	ENSG00000151651	synonymous SNV	synonymous SNV	unknown	ADAM8:NM_001164489:exon11:c.T990C:p.C330C,ADAM8:NM_001164490:exon10:c.T873C:p.C291C,ADAM8:NM_001109:exon11:c.T990C:p.C330C,	ADAM8:uc009ybi.3:exon11:c.T990C:p.C330C,ADAM8:uc021qbe.1:exon11:c.T990C:p.C330C,ADAM8:uc010qva.2:exon10:c.T873C:p.C291C,	UNKNOWN	Het;A>G	746;84|44	Hom;A>G	2631;0|93
N	N	-	10	135085754	135085754	G	A	snp	synonymous SNV	C825T	T275T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs1131718	0.883586	0.8790	0.8791	1	0	0	exonic	exonic	exonic	ADAM8	ADAM8	ENSG00000151651	synonymous SNV	synonymous SNV	unknown	ADAM8:NM_001164489:exon10:c.C900T:p.T300T,ADAM8:NM_001164490:exon9:c.C783T:p.T261T,ADAM8:NM_001109:exon10:c.C900T:p.T300T,	ADAM8:uc010qvb.1:exon10:c.C825T:p.T275T,ADAM8:uc009ybi.3:exon10:c.C900T:p.T300T,ADAM8:uc021qbe.1:exon10:c.C900T:p.T300T,ADAM8:uc010qva.2:exon9:c.C783T:p.T261T,	UNKNOWN	Het;G>A	1879;84|86	Hom;G>A	4651;0|169
N	N	-	10	135086203	135086203	C	T	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs3008323	0.893371	0	0	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;C>T	334;15|14	Hom;C>T	758;1|27
N	N	-	10	135086380	135086380	C	T	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs3008324	0.89377	0.8918	0.8934	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;C>T	2368;105|117	Hom;C>T	4367;0|171
N	N	-	10	135086676	135086676	A	G	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs3008325	0.902955	0	0	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;A>G	38;2|2	Hom;A>G	415;0|13
N	N	-	10	135089035	135089035	A	G	snp	nonsynonymous SNV	T103C	W35R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs2275725	0.903155	0.9092	0.9016	0.14	1	7	exonic	exonic	exonic	ADAM8	ADAM8	ENSG00000151651	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAM8:NM_001164489:exon2:c.T103C:p.W35R,ADAM8:NM_001109:exon2:c.T103C:p.W35R,	ADAM8:uc010qvb.1:exon2:c.T28C:p.W10R,ADAM8:uc009ybi.3:exon2:c.T103C:p.W35R,ADAM8:uc021qbe.1:exon2:c.T103C:p.W35R,	UNKNOWN	Het;A>G	739;48|38	Hom;A>G	2430;0|94
N	N	-	10	135090183	135090183	A	G	snp	intronic	 	 	 	 	ADAM8	Adam8	ENSG00000151651	ADAM metallopeptidase domain 8	chr10:135075907-135090372	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]	Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity	Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.	Neutrophil degranulation	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADAM8	https://www.uniprot.org/uniprot/P78325		https://www.ncbi.nlm.nih.gov/omim/?term=602267	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8	rs2995317	0.904153	0	0	1	0	0	intronic	intronic	intronic	ADAM8	ADAM8	ENSG00000151651	Na	Na	Na	Na	Na	Na	Het;A>G	123;3|6	Hom;A>G	71;0|4
N	N	-	10	135092100	135092100	A	G	snp	downstream	 	 	 	 	TUBGCP2	Tubgcp2	ENSG00000130640	tubulin gamma complex associated protein 2	chr10:135093135-135125841			 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2	https://www.uniprot.org/uniprot/Q9BSJ2			http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2	rs1005805	0.902955	0	0	1	0	0	downstream	downstream	intergenic	TUBGCP2	TUBGCP2	ENSG00000151651(dist=1728),ENSG00000130640(dist=1035)	Na	Na	Na	Na	Na	Na	Het;A>G	272;27|15	Hom;A>G	1356;0|49
N	N	-	10	135092281	135092282	CA	C	indel	UTR3	*989_*988delinsG	 	 	 	TUBGCP2	Tubgcp2	ENSG00000130640	tubulin gamma complex associated protein 2	chr10:135093135-135125841			 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2	https://www.uniprot.org/uniprot/Q9BSJ2			http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2	rs3216040	0.903954	0	0	1	0	0	UTR3	UTR3	downstream	TUBGCP2(NM_006659:c.*989_*988delinsG,NM_001256617:c.*989_*988delinsG,NM_001256618:c.*989_*988delinsG)	TUBGCP2(uc001lmf.2:c.*989_*988delinsG,uc010qvc.2:c.*989_*988delinsG,uc001lmg.2:c.*989_*988delinsG,uc010qvd.2:c.*989_*988delinsG,uc009ybk.2:c.*989_*988delinsG)	ENSG00000130640	Na	Na	Na	Na	Na	Na	Het;-A	3012;128|101	Hom;-A	8717;0|231
N	N	-	10	135092590	135092590	G	C	snp	UTR3	*680C>G	 	 	 	TUBGCP2	Tubgcp2	ENSG00000130640	tubulin gamma complex associated protein 2	chr10:135093135-135125841			 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2	https://www.uniprot.org/uniprot/Q9BSJ2			http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2	rs3008328	0.898163	0	0	1	0	0	UTR3	UTR3	downstream	TUBGCP2(NM_006659:c.*680C>G,NM_001256617:c.*680C>G,NM_001256618:c.*680C>G)	TUBGCP2(uc001lmf.2:c.*680C>G,uc010qvc.2:c.*680C>G,uc001lmg.2:c.*680C>G,uc010qvd.2:c.*680C>G,uc009ybk.2:c.*680C>G)	ENSG00000130640	Na	Na	Na	Na	Na	Na	Het;G>C	1367;65|63	Hom;G>C	3046;0|104
N	N	-	10	135096784	135096784	A	G	snp	intronic	 	 	 	 	TUBGCP2	Tubgcp2	ENSG00000130640	tubulin gamma complex associated protein 2	chr10:135093135-135125841			 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2	https://www.uniprot.org/uniprot/Q9BSJ2			http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2	rs2995325	0.88758	0	0	1	0	0	intronic	intronic	intronic	TUBGCP2	TUBGCP2	ENSG00000130640	Na	Na	Na	Na	Na	Na	Het;A>G	766;37|31	Hom;A>G	1786;0|62
N	N	-	10	135097434	135097434	A	G	snp	synonymous SNV	T2181C	F727F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	TUBGCP2	Tubgcp2	ENSG00000130640	tubulin gamma complex associated protein 2	chr10:135093135-135125841			 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2	https://www.uniprot.org/uniprot/Q9BSJ2			http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2	rs2995326	0.901957	0.8952	0.8962	1	0	0	exonic	exonic	exonic	TUBGCP2	TUBGCP2	ENSG00000130640	synonymous SNV	synonymous SNV	unknown	TUBGCP2:NM_001256618:exon13:c.T1707C:p.F569F,TUBGCP2:NM_001256617:exon15:c.T2181C:p.F727F,TUBGCP2:NM_006659:exon14:c.T2097C:p.F699F,	TUBGCP2:uc010qvc.2:exon15:c.T2181C:p.F727F,TUBGCP2:uc001lmf.2:exon6:c.T876C:p.F292F,TUBGCP2:uc001lmg.2:exon14:c.T2097C:p.F699F,TUBGCP2:uc010qvd.2:exon13:c.T1707C:p.F569F,TUBGCP2:uc009ybk.2:exon13:c.T2166C:p.F722F,	UNKNOWN	Het;A>G	868;55|44	Hom;A>G	2384;0|90
N	N	-	10	135098672	135098672	G	A	snp	synonymous SNV	C2025T	Y675Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	TUBGCP2	Tubgcp2	ENSG00000130640	tubulin gamma complex associated protein 2	chr10:135093135-135125841			 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2	https://www.uniprot.org/uniprot/Q9BSJ2			http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2	rs3008334	0.887979	0.8852	0.8917	1	0	0	exonic	exonic	exonic	TUBGCP2	TUBGCP2	ENSG00000130640	synonymous SNV	synonymous SNV	unknown	TUBGCP2:NM_001256618:exon12:c.C1551T:p.Y517Y,TUBGCP2:NM_001256617:exon14:c.C2025T:p.Y675Y,TUBGCP2:NM_006659:exon13:c.C1941T:p.Y647Y,	TUBGCP2:uc010qvc.2:exon14:c.C2025T:p.Y675Y,TUBGCP2:uc001lmf.2:exon5:c.C720T:p.Y240Y,TUBGCP2:uc001lmg.2:exon13:c.C1941T:p.Y647Y,TUBGCP2:uc010qvd.2:exon12:c.C1551T:p.Y517Y,TUBGCP2:uc009ybk.2:exon12:c.C2010T:p.Y670Y,	UNKNOWN	Het;G>A	887;37|45	Hom;G>A	2473;0|95
N	N	-	10	135098830	135098830	T	C	snp	nonsynonymous SNV	A1852G	R618G	polar,hydrophilic,charged(+)	aliphatic,neutral	TUBGCP2	Tubgcp2	ENSG00000130640	tubulin gamma complex associated protein 2	chr10:135093135-135125841			 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2	https://www.uniprot.org/uniprot/Q9BSJ2			http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2	rs3008335	0.897564	0	0.9006	1	0	0	intronic	exonic	intronic	TUBGCP2	TUBGCP2	ENSG00000130640	Na	nonsynonymous SNV	Na	Na	TUBGCP2:uc009ybk.2:exon12:c.A1852G:p.R618G,	Na	Het;T>C	89;6|4	Hom;T>C	410;0|12
N	N	-	10	135141572	135141572	G	T	snp	intronic	 	 	 	 	CALY	Caly	ENSG00000130643	calcyon neuron specific vesicular protein	chr10:135138927-135150475	The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]	Hypercholesterolemia|LDLC levels; attention deficit hyperactivity disorder; Bulimia; ADHD | attention-deficit hyperactivity disorder; Alzheimer's disease 	Neurons in homozygous null mice have defects in clathrin-mediated endocytosis (CME) that manifests as an absence of long term depression in post-synaptic currents of the hippocampus.		GO:0006897;endocytosis;IEA|GO:0007212;dopamine receptor signaling pathway;IEA|GO:0016197;endosomal transport;IBA|GO:0045807;positive regulation of endocytosis;IMP|GO:0048268;clathrin coat assembly;IDA	GO:0005768;endosome;IBA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA	GO:0005515;protein binding;IPI|GO:0032051;clathrin light chain binding;IDA|GO:0032403;protein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CALY	https://www.uniprot.org/uniprot/Q9NYX4		https://www.ncbi.nlm.nih.gov/omim/?term=604647	http://www.informatics.jax.org/searchtool/Search.do?query=CALY&submit=Quick%0D%6404ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALY	rs2298122	0.726637	0	0	1	0	0	intronic	intronic	intronic	CALY	CALY,PRAP1	ENSG00000130643,ENSG00000198546	Na	Na	Na	Na	Na	Na	Het;G>T	131;8|7	Hom;G>T	536;0|21
N	N	-	10	135160950	135160950	C	T	snp	ncRNA_intronic	 	 	 	 	AL360181.1																		rs4838721	0.720647	0.6955	0.7919	1	0	0	intronic	intronic	ncRNA_intronic	PRAP1	PRAP1	ENSG00000226699	Na	Na	Na	Na	Na	Na	Het;C>T	1490;66|71	Hom;C>T	2553;0|98
N	N	-	10	135213263	135213263	T	C	snp	intronic	 	 	 	 	MTG1	Mtg1	ENSG00000148824	mitochondrial ribosome associated GTPase 1	chr10:135207598-135234811		Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit an oxidative stress-dependent exaccerbated response to cardiac pressure overload.		GO:0006417;regulation of translation;IEA|GO:0044065;regulation of respiratory system process;IMP|GO:0070129;regulation of mitochondrial translation;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005761;mitochondrial ribosome;IDA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTG1	https://www.uniprot.org/uniprot/Q9BT17			http://www.informatics.jax.org/searchtool/Search.do?query=MTG1&submit=Quick%0D%9162ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTG1	rs2814206	0.544329	0	0	1	0	0	intronic	intronic	intronic	MTG1	MTG1	ENSG00000148824,ENSG00000254536	Na	Na	Na	Na	Na	Na	Het;T>C	38;3|2	Hom;T>C	144;0|5
N	N	-	10	135455082	135455082	G	A	snp	upstream	 	 	 	 	AGGF1P2																		rs28680625	0	0	0	1	0	0	intergenic	intergenic	upstream	FRG2B(dist=14783),NONE(dist=NONE)	FRG2B(dist=14783),DUX4(dist=25476)	ENSG00000233435	Na	Na	Na	Na	Na	Na	Het;G>A	221;1|6	Hom;G>A	96;0|4
N	N	-	10	13950781	13950781	C	T	snp	intronic	 	 	 	 	FRMD4A	Frmd4a	ENSG00000151474	FERM domain containing 4A	chr10:13685706-14504141	This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; RR interval (heart rate); Alzheimer's disease 	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA	GO:0030674;protein binding, bridging;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FRMD4A	https://www.uniprot.org/uniprot/Q9P2Q2	https://hpo.jax.org/app/browse/search?q=FRMD4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616305	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4A&submit=Quick%0D%9426ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4A	rs2698132	0.673722	0	0	1	0	0	intronic	intronic	intronic	FRMD4A	FRMD4A	ENSG00000151474	Na	Na	Na	Na	Na	Na	Het;C>T	195;4|8	Hom;C>T	303;0|12
N	N	-	10	14884509	14884509	G	A	snp	nonsynonymous SNV	G226A	A76T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	HSPA14	Hspa14	ENSG00000187522	heat shock protein family A (Hsp70) member 14	chr10:14880163-14913740		Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; lung cancer; Alzheimer's disease ; Inflammation|Premature Birth	 	Regulation of HSF1-mediated heat shock response	GO:0051083;'de novo' cotranslational protein folding;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IDA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPA14			https://www.ncbi.nlm.nih.gov/omim/?term=610369	http://www.informatics.jax.org/searchtool/Search.do?query=HSPA14&submit=Quick%0D%15833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA14	rs12770830	0.0445288	0	0.0800	1	0	0	intronic	exonic	intronic	HSPA14	HSPA14	ENSG00000187522	Na	nonsynonymous SNV	Na	Na	HSPA14:uc001ind.4:exon4:c.G226A:p.A76T,	Na	Het;G>A	1506;89|72	Hom;G>A	3906;3|144
N	N	-	10	14886486	14886487	CG	C	indel	UTR3	*906_*907delinsC	 	 	 	HSPA14	Hspa14	ENSG00000187522	heat shock protein family A (Hsp70) member 14	chr10:14880163-14913740		Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; lung cancer; Alzheimer's disease ; Inflammation|Premature Birth	 	Regulation of HSF1-mediated heat shock response	GO:0051083;'de novo' cotranslational protein folding;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IDA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPA14			https://www.ncbi.nlm.nih.gov/omim/?term=610369	http://www.informatics.jax.org/searchtool/Search.do?query=HSPA14&submit=Quick%0D%15833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA14	rs45536242	0	0	0	1	0	0	UTR3	UTR3	UTR3	HSPA14(NM_001278205:c.*906_*907delinsC)	HSPA14(uc001ind.4:c.*593_*594delinsC,uc001ine.4:c.*906_*907delinsC)	ENSG00000187522(ENST00000437161:c.*906_*907delinsC)	Na	Na	Na	Na	Na	Na	Het;-G	3852;166|108	Hom;-G	8970;2|203
N	N	-	10	14886489	14886499	CTATAAGCACA	C	indel	UTR3	*909_*919delinsC	 	 	 	HSPA14	Hspa14	ENSG00000187522	heat shock protein family A (Hsp70) member 14	chr10:14880163-14913740		Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; lung cancer; Alzheimer's disease ; Inflammation|Premature Birth	 	Regulation of HSF1-mediated heat shock response	GO:0051083;'de novo' cotranslational protein folding;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IDA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPA14			https://www.ncbi.nlm.nih.gov/omim/?term=610369	http://www.informatics.jax.org/searchtool/Search.do?query=HSPA14&submit=Quick%0D%15833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA14	rs374406484	0	0	0	1	0	0	UTR3	UTR3	UTR3	HSPA14(NM_001278205:c.*909_*919delinsC)	HSPA14(uc001ind.4:c.*596_*606delinsC,uc001ine.4:c.*909_*919delinsC)	ENSG00000187522(ENST00000437161:c.*909_*919delinsC)	Na	Na	Na	Na	Na	Na	Het;-TATAAGCACA	3821;174|101	Hom;-TATAAGCACA	8972;2|202
N	N	-	10	14887979	14887979	C	T	snp	UTR3	*2399C>T	 	 	 	HSPA14	Hspa14	ENSG00000187522	heat shock protein family A (Hsp70) member 14	chr10:14880163-14913740		Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; lung cancer; Alzheimer's disease ; Inflammation|Premature Birth	 	Regulation of HSF1-mediated heat shock response	GO:0051083;'de novo' cotranslational protein folding;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IDA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPA14			https://www.ncbi.nlm.nih.gov/omim/?term=610369	http://www.informatics.jax.org/searchtool/Search.do?query=HSPA14&submit=Quick%0D%15833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA14	rs11593057	0.0632987	0	0	1	0	0	UTR3	UTR3	intronic	HSPA14(NM_001278205:c.*2399C>T)	HSPA14(uc001ind.4:c.*2086C>T,uc001ine.4:c.*2399C>T)	ENSG00000187522	Na	Na	Na	Na	Na	Na	Het;C>T	953;41|43	Hom;C>T	1507;0|55
N	N	-	10	14941654	14941654	C	T	snp	synonymous SNV	C246T	Y82Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	SUV39H2	Suv39h2	ENSG00000152455	suppressor of variegation 3-9 homolog 2	chr10:14920819-14946314		lung cancer	Less than 5% of mice either heterozygous or homozygous for a reporter/null allele develop late-onset B cell lymphomas.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006333;chromatin assembly or disassembly;IMP|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0036123;histone H3-K9 dimethylation;ISS|GO:0036124;histone H3-K9 trimethylation;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0071456;cellular response to hypoxia;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000785;chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA	GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IDA|GO:1904047;S-adenosyl-L-methionine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SUV39H2	https://www.uniprot.org/uniprot/Q9H5I1		https://www.ncbi.nlm.nih.gov/omim/?term=606503	http://www.informatics.jax.org/searchtool/Search.do?query=SUV39H2&submit=Quick%0D%9550ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUV39H2	rs17353856	0.0553115	0.0976	0.1043	1	0	0	exonic	exonic	exonic	SUV39H2	SUV39H2	ENSG00000152455	synonymous SNV	synonymous SNV	unknown	SUV39H2:NM_024670:exon3:c.C786T:p.Y262Y,SUV39H2:NM_001193424:exon4:c.C966T:p.Y322Y,SUV39H2:NM_001193427:exon4:c.C246T:p.Y82Y,SUV39H2:NM_001193426:exon4:c.C426T:p.Y142Y,SUV39H2:NM_001193425:exon4:c.C786T:p.Y262Y,	SUV39H2:uc021pnh.1:exon4:c.C246T:p.Y82Y,SUV39H2:uc001ini.3:exon4:c.C786T:p.Y262Y,SUV39H2:uc021png.1:exon4:c.C966T:p.Y322Y,SUV39H2:uc001ing.3:exon4:c.C426T:p.Y142Y,SUV39H2:uc001inh.3:exon3:c.C786T:p.Y262Y,SUV39H2:uc001inj.3:exon3:c.C786T:p.Y262Y,	UNKNOWN	Het;C>T	1381;73|69	Hom;C>T	3054;1|117
N	N	-	10	14945406	14945406	A	G	snp	UTR3	*1844A>G	 	 	 	SUV39H2	Suv39h2	ENSG00000152455	suppressor of variegation 3-9 homolog 2	chr10:14920819-14946314		lung cancer	Less than 5% of mice either heterozygous or homozygous for a reporter/null allele develop late-onset B cell lymphomas.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006333;chromatin assembly or disassembly;IMP|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0036123;histone H3-K9 dimethylation;ISS|GO:0036124;histone H3-K9 trimethylation;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0071456;cellular response to hypoxia;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000785;chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA	GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IDA|GO:1904047;S-adenosyl-L-methionine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SUV39H2	https://www.uniprot.org/uniprot/Q9H5I1		https://www.ncbi.nlm.nih.gov/omim/?term=606503	http://www.informatics.jax.org/searchtool/Search.do?query=SUV39H2&submit=Quick%0D%9550ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUV39H2	rs11594111	0.0547125	0	0	1	0	0	UTR3	UTR3	UTR3	SUV39H2(NM_001193424:c.*895A>G,NM_001193426:c.*895A>G,NM_001193427:c.*895A>G,NM_001193425:c.*895A>G,NM_024670:c.*895A>G)	SUV39H2(uc021png.1:c.*895A>G,uc001ing.3:c.*895A>G,uc001inh.3:c.*895A>G,uc001ini.3:c.*895A>G,uc021pnh.1:c.*895A>G,uc001inj.3:c.*895A>G)	ENSG00000152455(ENST00000378331:c.*1844A>G,ENST00000313519:c.*895A>G,ENST00000358298:c.*895A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1443;62|57	Hom;A>G	3823;1|129
N	N	-	10	14974843	14974843	G	A	snp	intronic	 	 	 	 	DCLRE1C	Dclre1c	ENSG00000152457	DNA cross-link repair 1C	chr10:14939358-14996431	This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Lymphopenia|SCID|Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes|Severe Combined Immunodeficiency; Leukemia, Lymphocytic, Chronic, B-Cell; multiple sclerosis; Brain Neoplasms|Glioma; breast cancer	Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial.	Nonhomologous End-Joining (NHEJ)	GO:0000723;telomere maintenance;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031848;protection from non-homologous end joining at telomere;IBA|GO:0033151;V(D)J recombination;IEA|GO:0036297;interstrand cross-link repair;IBA|GO:0051276;chromosome organization;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000784;nuclear chromosome, telomeric region;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0070419;nonhomologous end joining complex;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IDA|GO:0003684;damaged DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;TAS|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008409;5'-3' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0035312;5'-3' exodeoxyribonuclease activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DCLRE1C	https://www.uniprot.org/uniprot/Q96SD1	https://hpo.jax.org/app/browse/search?q=DCLRE1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605988	http://www.informatics.jax.org/searchtool/Search.do?query=DCLRE1C&submit=Quick%0D%9551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLRE1C	rs35927251	0.159944	0.1698	0.1643	1	0	0	intronic	intronic	intronic	DCLRE1C	DCLRE1C	ENSG00000152457	Na	Na	Na	Na	Na	Na	Het;G>A	1551;117|81	Hom;G>A	5432;2|209
N	N	-	10	14974905	14974905	T	C	snp	nonsynonymous SNV	A368G	H123R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	DCLRE1C	Dclre1c	ENSG00000152457	DNA cross-link repair 1C	chr10:14939358-14996431	This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Lymphopenia|SCID|Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes|Severe Combined Immunodeficiency; Leukemia, Lymphocytic, Chronic, B-Cell; multiple sclerosis; Brain Neoplasms|Glioma; breast cancer	Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial.	Nonhomologous End-Joining (NHEJ)	GO:0000723;telomere maintenance;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031848;protection from non-homologous end joining at telomere;IBA|GO:0033151;V(D)J recombination;IEA|GO:0036297;interstrand cross-link repair;IBA|GO:0051276;chromosome organization;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000784;nuclear chromosome, telomeric region;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0070419;nonhomologous end joining complex;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IDA|GO:0003684;damaged DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;TAS|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008409;5'-3' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0035312;5'-3' exodeoxyribonuclease activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DCLRE1C	https://www.uniprot.org/uniprot/Q96SD1	https://hpo.jax.org/app/browse/search?q=DCLRE1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605988	http://www.informatics.jax.org/searchtool/Search.do?query=DCLRE1C&submit=Quick%0D%9551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLRE1C	rs12768894	0.123003	0.1426	0.1560	0.46	6	13	exonic	exonic	exonic	DCLRE1C	DCLRE1C	ENSG00000152457	nonsynonymous SNV	nonsynonymous SNV	unknown	DCLRE1C:NM_001033858:exon11:c.A368G:p.H123R,DCLRE1C:NM_022487:exon8:c.A383G:p.H128R,DCLRE1C:NM_001289078:exon7:c.A383G:p.H128R,DCLRE1C:NM_001289076:exon7:c.A383G:p.H128R,DCLRE1C:NM_001289077:exon10:c.A368G:p.H123R,DCLRE1C:NM_001289079:exon11:c.A368G:p.H123R,DCLRE1C:NM_001033855:exon9:c.A728G:p.H243R,DCLRE1C:NM_001033857:exon10:c.A368G:p.H123R,	DCLRE1C:uc001inn.3:exon9:c.A728G:p.H243R,DCLRE1C:uc001inq.3:exon11:c.A368G:p.H123R,DCLRE1C:uc010qbx.2:exon9:c.A728G:p.H243R,DCLRE1C:uc001inr.3:exon7:c.A383G:p.H128R,DCLRE1C:uc001inl.3:exon10:c.A368G:p.H123R,DCLRE1C:uc009xji.3:exon7:c.A383G:p.H128R,DCLRE1C:uc001inm.3:exon11:c.A368G:p.H123R,DCLRE1C:uc021pni.1:exon5:c.A383G:p.H128R,DCLRE1C:uc001ino.3:exon8:c.A383G:p.H128R,DCLRE1C:uc001inp.3:exon10:c.A368G:p.H123R,	UNKNOWN	Het;T>C	1505;109|80	Hom;T>C	5720;2|213
N	N	-	10	14978451	14978451	A	G	snp	intronic	 	 	 	 	DCLRE1C	Dclre1c	ENSG00000152457	DNA cross-link repair 1C	chr10:14939358-14996431	This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Lymphopenia|SCID|Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes|Severe Combined Immunodeficiency; Leukemia, Lymphocytic, Chronic, B-Cell; multiple sclerosis; Brain Neoplasms|Glioma; breast cancer	Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial.	Nonhomologous End-Joining (NHEJ)	GO:0000723;telomere maintenance;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031848;protection from non-homologous end joining at telomere;IBA|GO:0033151;V(D)J recombination;IEA|GO:0036297;interstrand cross-link repair;IBA|GO:0051276;chromosome organization;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000784;nuclear chromosome, telomeric region;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0070419;nonhomologous end joining complex;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IDA|GO:0003684;damaged DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;TAS|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008409;5'-3' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0035312;5'-3' exodeoxyribonuclease activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DCLRE1C	https://www.uniprot.org/uniprot/Q96SD1	https://hpo.jax.org/app/browse/search?q=DCLRE1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605988	http://www.informatics.jax.org/searchtool/Search.do?query=DCLRE1C&submit=Quick%0D%9551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLRE1C	rs12245497	0.0770767	0.0939	0	1	0	0	intronic	intronic	intronic	DCLRE1C	DCLRE1C	ENSG00000152457	Na	Na	Na	Na	Na	Na	Het;A>G	471;22|19	Hom;A>G	727;0|23
N	N	-	10	15008493	15008493	A	C	snp	nonsynonymous SNV	A26C	K9T	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MEIG1	Meig1	ENSG00000197889	meiosis/spermiogenesis associated 1	chr10:15001438-15030049			Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads.		GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/MEIG1			https://www.ncbi.nlm.nih.gov/omim/?term=614174	http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1	rs4750568	0.611222	0.6532	0.6597	0.67	8	12	exonic	exonic	exonic	MEIG1	MEIG1	ENSG00000197889	nonsynonymous SNV	nonsynonymous SNV	unknown	MEIG1:NM_001080836:exon2:c.A26C:p.K9T,	MEIG1:uc009xjk.1:exon2:c.A26C:p.K9T,	UNKNOWN	Het;A>C	651;41|30	Hom;A>C	3029;0|112
N	N	-	10	15014418	15014418	C	G	snp	intronic	 	 	 	 	MEIG1	Meig1	ENSG00000197889	meiosis/spermiogenesis associated 1	chr10:15001438-15030049			Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads.		GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/MEIG1			https://www.ncbi.nlm.nih.gov/omim/?term=614174	http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1	rs1935400	0.63758	0	0	1	0	0	intronic	intronic	intronic	MEIG1	DCLRE1C,MEIG1	ENSG00000197889	Na	Na	Na	Na	Na	Na	Het;C>G	141;4|7	Hom;C>G	434;0|14
N	N	-	10	15014440	15014440	A	G	snp	intronic	 	 	 	 	MEIG1	Meig1	ENSG00000197889	meiosis/spermiogenesis associated 1	chr10:15001438-15030049			Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads.		GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/MEIG1			https://www.ncbi.nlm.nih.gov/omim/?term=614174	http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1	rs1935399	0.639577	0	0	1	0	0	intronic	intronic	intronic	MEIG1	DCLRE1C,MEIG1	ENSG00000197889	Na	Na	Na	Na	Na	Na	Het;A>G	353;7|14	Hom;A>G	636;0|21
N	N	-	10	15014698	15014698	C	T	snp	UTR3	*58C>T	 	 	 	MEIG1	Meig1	ENSG00000197889	meiosis/spermiogenesis associated 1	chr10:15001438-15030049			Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads.		GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/MEIG1			https://www.ncbi.nlm.nih.gov/omim/?term=614174	http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1	rs4418687	0.63738	0	0	1	0	0	UTR3	UTR3	UTR3	MEIG1(NM_001080836:c.*58C>T)	MEIG1(uc009xjk.1:c.*58C>T)	ENSG00000197889(ENST00000407572:c.*58C>T,ENST00000378240:c.*58C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	597;9|17	Hom;C>T	1181;0|28
N	N	-	10	15014702	15014702	A	G	snp	UTR3	*62A>G	 	 	 	MEIG1	Meig1	ENSG00000197889	meiosis/spermiogenesis associated 1	chr10:15001438-15030049			Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads.		GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/MEIG1			https://www.ncbi.nlm.nih.gov/omim/?term=614174	http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1	rs4295952	0.63738	0	0	1	0	0	UTR3	UTR3	UTR3	MEIG1(NM_001080836:c.*62A>G)	MEIG1(uc009xjk.1:c.*62A>G)	ENSG00000197889(ENST00000407572:c.*62A>G,ENST00000378240:c.*62A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	522;9|14	Hom;A>G	1181;0|26
N	N	-	10	16526840	16526840	G	A	snp	intronic	 	 	 	 	PTER	Pter	ENSG00000165983	phosphotriesterase related	chr10:16478942-16555736		Type 2 diabetes; obesity; Liver Diseases	 		GO:0009056;catabolic process;IEA|GO:0030855;epithelial cell differentiation;IEP	GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTER			https://www.ncbi.nlm.nih.gov/omim/?term=604446	http://www.informatics.jax.org/searchtool/Search.do?query=PTER&submit=Quick%0D%11670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTER	rs2275731	0.421526	0.3824	0.3918	1	0	0	intronic	intronic	intronic	PTER	PTER	ENSG00000165983	Na	Na	Na	Na	Na	Na	Het;G>A	664;31|34	Hom;G>A	1238;1|47
N	N	-	10	16547058	16547058	A	G	snp	synonymous SNV	A738G	Q246Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PTER	Pter	ENSG00000165983	phosphotriesterase related	chr10:16478942-16555736		Type 2 diabetes; obesity; Liver Diseases	 		GO:0009056;catabolic process;IEA|GO:0030855;epithelial cell differentiation;IEP	GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTER			https://www.ncbi.nlm.nih.gov/omim/?term=604446	http://www.informatics.jax.org/searchtool/Search.do?query=PTER&submit=Quick%0D%11670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTER	rs7904014	0.65635	0.5085	0.5558	1	0	0	exonic	exonic	exonic	PTER	PTER	ENSG00000165983	synonymous SNV	synonymous SNV	unknown	PTER:NM_001001484:exon5:c.A738G:p.Q246Q,PTER:NM_001261836:exon4:c.A738G:p.Q246Q,PTER:NM_001261838:exon3:c.A291G:p.Q97Q,PTER:NM_030664:exon5:c.A738G:p.Q246Q,	PTER:uc001iog.2:exon5:c.A738G:p.Q246Q,PTER:uc031pti.1:exon3:c.A291G:p.Q97Q,PTER:uc001ioh.2:exon5:c.A738G:p.Q246Q,PTER:uc001ioi.2:exon4:c.A738G:p.Q246Q,	UNKNOWN	Het;A>G	1401;76|66	Hom;A>G	3859;0|146
N	N	-	10	16737166	16737166	G	A	snp	intronic	 	 	 	 	RSU1	Rsu1	ENSG00000148484	Ras suppressor protein 1	chr10:16632610-16859527	This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Stroke; Tobacco Use Disorder	 	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	GO:0007165;signal transduction;TAS|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0043547;positive regulation of GTPase activity;IMP	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RSU1	https://www.uniprot.org/uniprot/Q15404		https://www.ncbi.nlm.nih.gov/omim/?term=179555	http://www.informatics.jax.org/searchtool/Search.do?query=RSU1&submit=Quick%0D%9128ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RSU1	rs3837313	0.451677	0	0.3778	1	0	0	intronic	intronic	intronic	RSU1	RSU1	ENSG00000148484	Na	Na	Na	Na	Na	Na	Het;G>A	964;17|27	Hom;G>A	2080;0|54
N	N	-	10	16870912	16870912	G	T	snp	nonsynonymous SNV	C10656A	N3552K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	CUBN	Cubn																	rs1801232	0.0822684	0.0557	0.0885	0.31	4	13	exonic	exonic	exonic	CUBN	CUBN	ENSG00000107611	nonsynonymous SNV	nonsynonymous SNV	unknown	CUBN:NM_001081:exon66:c.C10656A:p.N3552K,	CUBN:uc001ioo.3:exon66:c.C10656A:p.N3552K,	UNKNOWN	Het;G>T	1268;52|58	Hom;G>T	2201;0|82
N	N	-	10	17113563	17113563	C	T	snp	synonymous SNV	G2487A	S829S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CUBN	Cubn																	rs1801225	0.35603	0.3357	0.4252	1	0	0	exonic	exonic	exonic	CUBN	CUBN	ENSG00000107611	synonymous SNV	synonymous SNV	unknown	CUBN:NM_001081:exon19:c.G2487A:p.S829S,	CUBN:uc001ioo.3:exon19:c.G2487A:p.S829S,	UNKNOWN	Het;C>T	996;64|48	Hom;C>T	3304;0|124
N	N	-	10	17147521	17147521	G	T	snp	nonsynonymous SNV	C1165A	P389T	hydrophobic,neutral	polar,hydrophilic,neutral	CUBN	Cubn																	rs1801224	0.534345	0.5876	0.6138	0.38	5	13	exonic	exonic	exonic	CUBN	CUBN	ENSG00000107611	nonsynonymous SNV	nonsynonymous SNV	unknown	CUBN:NM_001081:exon11:c.C1165A:p.P389T,	CUBN:uc001ioo.3:exon11:c.C1165A:p.P389T,	UNKNOWN	Het;G>T	1616;104|85	Hom;G>T	4730;2|178
N	N	-	10	17428971	17428971	T	A	snp	ncRNA_exonic	 	 	 	 	ST8SIA6-AS1																		rs366032	0.823482	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ST8SIA6-AS1	ST8SIA6-AS1	ENSG00000204832	Na	Na	Na	Na	Na	Na	Het;T>A	381;31|20	Hom;T>A	1006;0|40
N	N	-	10	18291288	18291288	G	A	snp	ncRNA_exonic	 	 	 	 	SLC39A12-AS1																		rs7894090	0.885383	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SLC39A12-AS1	LOC100129213	ENSG00000226083	Na	Na	Na	Na	Na	Na	Het;G>A	1305;82|62	Hom;G>A	3910;0|137
N	N	-	10	18297772	18297772	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100129213																		rs2497766	0.731829	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SLC39A12-AS1	LOC100129213	ENSG00000226083	Na	Na	Na	Na	Na	Na	Het;G>A	34;3|3	Hom;G>A	111;0|4
N	N	-	10	18834797	18834798	TA	T	indel	UTR3	*65_*64delinsA	 	 	 	NSUN6	Nsun6	ENSG00000241058	NOP2/Sun RNA methyltransferase family member 6	chr10:18834490-18940551		Tobacco Use Disorder	 	tRNA modification in the nucleus and cytosol	GO:0006400;tRNA modification;TAS|GO:0030488;tRNA methylation;IEA|GO:0032259;methylation;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000049;tRNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016428;tRNA (cytosine-5-)-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NSUN6			https://www.ncbi.nlm.nih.gov/omim/?term=617199	http://www.informatics.jax.org/searchtool/Search.do?query=NSUN6&submit=Quick%0D%19644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NSUN6	rs375322555	0.566693	0	0	1	0	0	UTR3	UTR3	UTR3	NSUN6(NM_182543:c.*65_*64delinsA)	NSUN6(uc010qcp.1:c.*65_*64delinsA)	ENSG00000241058(ENST00000377304:c.*65_*64delinsA)	Na	Na	Na	Na	Na	Na	Het;-A	46;2|5	Hom;-A	155;0|8
N	N	-	10	19620559	19620559	G	A	snp	intronic	 	 	 	 	MALRD1	Malrd1	ENSG00000204740	MAM and LDL receptor class A domain containing 1	chr10:19492779-20079330		Diabetes Mellitus; Albuminuria; Tobacco Use Disorder; Hypertension; Memory; Mental Competency; Heart Failure; Spondylitis, Ankylosing; Hemoglobin A, Glycosylated; Alzheimer's disease 	 		GO:0042632;cholesterol homeostasis;IEA|GO:0070858;negative regulation of bile acid biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MALRD1				http://www.informatics.jax.org/searchtool/Search.do?query=MALRD1&submit=Quick%0D%17395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MALRD1	rs7082205	0.732827	0	0.6790	1	0	0	intronic	intergenic	intronic	MALRD1	DQ600701(dist=371851),C10orf112(dist=157464)	ENSG00000204740	Na	Na	Na	Na	Na	Na	Het;G>A	161;7|8	Hom;G>A	369;0|15
N	N	-	10	19678286	19678286	C	T	snp	unknown	 	 	 	 	MALRD1	Malrd1	ENSG00000204740	MAM and LDL receptor class A domain containing 1	chr10:19492779-20079330		Diabetes Mellitus; Albuminuria; Tobacco Use Disorder; Hypertension; Memory; Mental Competency; Heart Failure; Spondylitis, Ankylosing; Hemoglobin A, Glycosylated; Alzheimer's disease 	 		GO:0042632;cholesterol homeostasis;IEA|GO:0070858;negative regulation of bile acid biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MALRD1				http://www.informatics.jax.org/searchtool/Search.do?query=MALRD1&submit=Quick%0D%17395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MALRD1	rs10763974	0.830471	0	0.8008	0.11	1	9	intronic	intergenic	exonic	MALRD1	DQ600701(dist=429578),C10orf112(dist=99737)	ENSG00000204740	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	42;2|3	Hom;C>T	324;0|10
N	N	-	10	19678497	19678497	G	A	snp	nonsynonymous SNV	G4804A	V1602I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MALRD1	Malrd1	ENSG00000204740	MAM and LDL receptor class A domain containing 1	chr10:19492779-20079330		Diabetes Mellitus; Albuminuria; Tobacco Use Disorder; Hypertension; Memory; Mental Competency; Heart Failure; Spondylitis, Ankylosing; Hemoglobin A, Glycosylated; Alzheimer's disease 	 		GO:0042632;cholesterol homeostasis;IEA|GO:0070858;negative regulation of bile acid biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MALRD1				http://www.informatics.jax.org/searchtool/Search.do?query=MALRD1&submit=Quick%0D%17395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MALRD1	rs10763975	0.839257	0	0.8187	0.11	1	9	exonic	intergenic	exonic	MALRD1	DQ600701(dist=429789),C10orf112(dist=99526)	ENSG00000204740	nonsynonymous SNV	Na	unknown	MALRD1:NM_001142308:exon28:c.G4804A:p.V1602I,	Na	UNKNOWN	Het;G>A	1023;57|52	Hom;G>A	2475;0|94
N	N	-	10	19678602	19678602	T	C	snp	intronic	 	 	 	 	MALRD1	Malrd1	ENSG00000204740	MAM and LDL receptor class A domain containing 1	chr10:19492779-20079330		Diabetes Mellitus; Albuminuria; Tobacco Use Disorder; Hypertension; Memory; Mental Competency; Heart Failure; Spondylitis, Ankylosing; Hemoglobin A, Glycosylated; Alzheimer's disease 	 		GO:0042632;cholesterol homeostasis;IEA|GO:0070858;negative regulation of bile acid biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MALRD1				http://www.informatics.jax.org/searchtool/Search.do?query=MALRD1&submit=Quick%0D%17395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MALRD1	rs7896087	0.830272	0	0	1	0	0	intronic	intergenic	intronic	MALRD1	DQ600701(dist=429894),C10orf112(dist=99421)	ENSG00000204740	Na	Na	Na	Na	Na	Na	Het;T>C	210;11|9	Hom;T>C	636;0|21
N	N	-	10	20036080	20036080	A	G	snp	downstream	 	 	 	 	TRNA_Pseudo																		rs1831474	0.662939	0	0	1	0	0	intergenic	downstream	upstream	MALRD1(dist=12673),PLXDC2(dist=69292)	TRNA_Pseudo	ENSG00000230818	Na	Na	Na	Na	Na	Na	Het;A>G	94;6|5	Hom;A>G	219;0|10
N	N	-	10	20105936	20105936	T	C	snp	UTR5	-73T>C	 	 	 	PLXDC2	Plxdc2	ENSG00000120594	plexin domain containing 2	chr10:20105168-20578785		Alzheimer's disease ; Blood Cells; Heart Diseases; Body Mass Index; Coronary Artery Disease; Triglycerides; Vascular Diseases; Chronic renal failure|Kidney Failure, Chronic; Tunica Media; Echocardiography; Heart Failure; Lipoproteins, LDL; Monocytes; Tobacco Use Disorder; Antidepressive Agents; Neutrophils; monocyte chemoattractant protein 1 (66-77); Glaucoma, Open-Angle	Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLXDC2	https://www.uniprot.org/uniprot/Q6UX71		https://www.ncbi.nlm.nih.gov/omim/?term=606827	http://www.informatics.jax.org/searchtool/Search.do?query=PLXDC2&submit=Quick%0D%5221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXDC2	rs989767	0.697883	0	0	1	0	0	UTR5	UTR5	UTR5	PLXDC2(NM_032812:c.-73T>C,NM_001282736:c.-73T>C)	PLXDC2(uc001iqg.1:c.-73T>C,uc001iqh.1:c.-73T>C)	ENSG00000120594(ENST00000377252:c.-73T>C,ENST00000377242:c.-73T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	343;20|17	Hom;T>C	1135;0|37
N	N	-	10	20336112	20336112	G	T	snp	intronic	 	 	 	 	PLXDC2	Plxdc2	ENSG00000120594	plexin domain containing 2	chr10:20105168-20578785		Alzheimer's disease ; Blood Cells; Heart Diseases; Body Mass Index; Coronary Artery Disease; Triglycerides; Vascular Diseases; Chronic renal failure|Kidney Failure, Chronic; Tunica Media; Echocardiography; Heart Failure; Lipoproteins, LDL; Monocytes; Tobacco Use Disorder; Antidepressive Agents; Neutrophils; monocyte chemoattractant protein 1 (66-77); Glaucoma, Open-Angle	Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLXDC2	https://www.uniprot.org/uniprot/Q6UX71		https://www.ncbi.nlm.nih.gov/omim/?term=606827	http://www.informatics.jax.org/searchtool/Search.do?query=PLXDC2&submit=Quick%0D%5221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXDC2	rs10740961	0.682708	0	0	1	0	0	intronic	intronic	intronic	PLXDC2	PLXDC2	ENSG00000120594	Na	Na	Na	Na	Na	Na	Het;G>T	44;8|3	Hom;G>T	179;0|6
N	N	-	10	21157492	21157492	T	C	snp	UTR3	*89A>G	 	 	 	NEBL	 	ENSG00000078114	nebulette	chr10:21068902-21463116	This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]	Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy	 		GO:0071691;cardiac muscle thin filament assembly;IMP	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NEBL	https://www.uniprot.org/uniprot/O76041	https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605491	http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL	rs2296609	0.678914	0	0	1	0	0	intronic	intronic	UTR3	NEBL	NEBL	ENSG00000078114(ENST00000377119:c.*89A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	65;7|3	Hom;T>C	213;0|6
N	N	-	10	23153272	23153272	A	G	snp	intergenic	 	 	 	 	RNU6-413P																		rs7100267	0.547524	0	0	1	0	0	intergenic	intergenic	intergenic	PIP4K2A(dist=149769),ARMC3(dist=63681)	PIP4K2A(dist=149769),ARMC3(dist=63682)	ENSG00000206842(dist=76844),ENSG00000165309(dist=63681)	Na	Na	Na	Na	Na	Na	Het;A>G	714;45|37	Hom;A>G	1909;0|71
N	N	-	10	23153350	23153350	T	C	snp	intergenic	 	 	 	 	RNU6-413P																		rs7070284	0.547524	0	0	1	0	0	intergenic	intergenic	intergenic	PIP4K2A(dist=149847),ARMC3(dist=63603)	PIP4K2A(dist=149847),ARMC3(dist=63604)	ENSG00000206842(dist=76922),ENSG00000165309(dist=63603)	Na	Na	Na	Na	Na	Na	Het;T>C	246;8|9	Hom;T>C	359;0|10
N	N	-	10	23220883	23220883	T	A	snp	intronic	 	 	 	 	ARMC3	Armc3	ENSG00000165309	armadillo repeat containing 3	chr10:23216953-23326518	Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]	Alzheimer's disease ; Tobacco Use Disorder; smoking cessation; Heart Rate	 			GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ARMC3			https://www.ncbi.nlm.nih.gov/omim/?term=611226	http://www.informatics.jax.org/searchtool/Search.do?query=ARMC3&submit=Quick%0D%11516ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC3	rs12360508	0.322085	0.1965	0.2165	1	0	0	intronic	intronic	intronic	ARMC3	ARMC3	ENSG00000165309	Na	Na	Na	Na	Na	Na	Het;T>A	1025;45|47	Hom;T>A	2872;2|104
N	N	-	10	23875593	23875593	T	C	snp	intergenic	 	 	 	 	OTUD1	Otud1	ENSG00000165312	OTU deubiquitinase 1	chr10:23728198-23731308	Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]		 		GO:0006508;proteolysis;IEA|GO:0070536;protein K63-linked deubiquitination;IDA		GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTUD1			https://www.ncbi.nlm.nih.gov/omim/?term=612022	http://www.informatics.jax.org/searchtool/Search.do?query=OTUD1&submit=Quick%0D%11517ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTUD1	rs7913104	0.372005	0	0	1	0	0	intergenic	intergenic	intergenic	OTUD1(dist=144283),KIAA1217(dist=108082)	OTUD1(dist=144283),KIAA1217(dist=108082)	ENSG00000165312(dist=144285),ENSG00000120549(dist=108082)	Na	Na	Na	Na	Na	Na	Het;T>C	79;1|3	Hom;T>C	164;0|5
N	N	-	10	24722200	24722200	G	T	snp	intronic	 	 	 	 	KIAA1217	Etl4	ENSG00000120549	KIAA1217	chr10:23983675-24836772		Intervertebral Disk Displacement; Tobacco Use Disorder; Heart Failure; C-Reactive Protein; Cognitive performance ; Mental Competency; Pancreatic Neoplasms; Triglycerides	Mice homozygous for a gene-trapped allele display malformations of the notochord and caudal vertebrae and may exhibit caudal tail kinks. Mice homozygous for another gene-trapped allele have malformed caudal vertebrae and intervertebral disk abnormalities; about half display kinked tails.		GO:0007275;multicellular organism development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0048706;embryonic skeletal system development;ISS|GO:0061001;regulation of dendritic spine morphogenesis;IEA	GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1217	https://www.uniprot.org/uniprot/Q5T5P2		https://www.ncbi.nlm.nih.gov/omim/?term=617367	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1217&submit=Quick%0D%5219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1217	rs3215904	0.257588	0	0	1	0	0	intronic	intronic	intronic	KIAA1217	KIAA1217	ENSG00000120549	Na	Na	Na	Na	Na	Na	Het;G>T	114;4|6	Hom;G>T	198;0|6
N	N	-	10	25060887	25060887	T	C	snp	intergenic	 	 	 	 	ARHGAP21	Arhgap21	ENSG00000107863	Rho GTPase activating protein 21	chr10:24872538-25012597	ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]	Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit die by E8. Mice heterozygous for the allele exhibit enhanced egress of HSC from the bone marrow resulting in decreased red blood cells, hemoglobin and platelets but increased leukocytes and neutrophils.	Rho GTPase cycle	GO:0007030;Golgi organization;IMP|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051683;establishment of Golgi localization;IDA|GO:0051684;maintenance of Golgi location;IMP|GO:0072384;organelle transport along microtubule;IMP	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP21	https://www.uniprot.org/uniprot/Q5T5U3		https://www.ncbi.nlm.nih.gov/omim/?term=609870	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP21&submit=Quick%0D%3650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP21	rs6482443	0.780751	0	0	1	0	0	intergenic	intergenic	intergenic	ARHGAP21(dist=48290),PRTFDC1(dist=76649)	ARHGAP21(dist=48290),PRTFDC1(dist=76667)	ENSG00000107863(dist=48290),ENSG00000099256(dist=76649)	Na	Na	Na	Na	Na	Na	Het;T>C	167;19|9	Hom;T>C	608;0|24
N	N	-	10	25231171	25231171	A	G	snp	intronic	 	 	 	 	PRTFDC1	 	ENSG00000099256	phosphoribosyl transferase domain containing 1	chr10:25137536-25241533			 		GO:0006166;purine ribonucleoside salvage;IEA|GO:0009116;nucleoside metabolic process;IEA	GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRTFDC1	https://www.uniprot.org/uniprot/Q9NRG1		https://www.ncbi.nlm.nih.gov/omim/?term=610751	http://www.informatics.jax.org/searchtool/Search.do?query=PRTFDC1&submit=Quick%0D%2303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRTFDC1	rs3748223	0.386382	0	0	1	0	0	intronic	intronic	intronic	PRTFDC1	PRTFDC1	ENSG00000099256	Na	Na	Na	Na	Na	Na	Het;A>G	85;8|7	Hom;A>G	282;0|10
N	N	-	10	25755732	25755736	CACAT	C	indel	intronic	 	 	 	 	GPR158	Gpr158	ENSG00000151025	G protein-coupled receptor 158	chr10:25463991-25891155		Cell Adhesion Molecules; Carcinoma, Squamous Cell|Esophageal Neoplasms; Tobacco Use Disorder; Alzheimer's disease ; Coronary Artery Disease	Mice homozygous for a knock-out allele exhibit antidepressant-like behaviors, reduced anxiety-related response and elevated AMPAR-signalling.		GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0072659;protein localization to plasma membrane;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPR158	https://www.uniprot.org/uniprot/Q5T848		https://www.ncbi.nlm.nih.gov/omim/?term=614573	http://www.informatics.jax.org/searchtool/Search.do?query=GPR158&submit=Quick%0D%9372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR158	rs55977525	0	0	0	1	0	0	intronic	intronic	intronic	GPR158	GPR158	ENSG00000151025	Na	Na	Na	Na	Na	Na	Het;-ACAT	73;5|4	Hom;-ACAT	137;0|4
N	N	-	10	26020615	26020615	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00836																		rs2505450	0.505591	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LINC00836	AK123440	ENSG00000271563(dist=39363),ENSG00000223019(dist=82125)	Na	Na	Na	Na	Na	Na	Het;C>T	694;26|36	Hom;C>T	1497;0|58
N	N	-	10	26409836	26409836	C	A	snp	intronic	 	 	 	 	MYO3A	Myo3a	ENSG00000095777	myosin IIIA	chr10:26223196-26501456	The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; Arthritis, Rheumatoid|Rheumatoid Arthritis; depression; colorectal cancer	Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration.		GO:0006468;protein phosphorylation;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0016310;phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0050896;response to stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA|GO:0030175;filopodium;IDA|GO:0031941;filamentous actin;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030898;actin-dependent ATPase activity;IDA|GO:0043531;ADP binding;IDA|GO:0060002;plus-end directed microfilament motor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYO3A	https://www.uniprot.org/uniprot/Q8NEV4	https://hpo.jax.org/app/browse/search?q=MYO3A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606808	http://www.informatics.jax.org/searchtool/Search.do?query=MYO3A&submit=Quick%0D%2260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO3A	rs2275727	0.16873	0	0	1	0	0	intronic	intronic	intronic	MYO3A	MYO3A	ENSG00000095777	Na	Na	Na	Na	Na	Na	Het;C>A	78;7|4	Hom;C>A	494;0|16
N	N	-	10	26443625	26443625	A	C	snp	intronic	 	 	 	 	MYO3A	Myo3a	ENSG00000095777	myosin IIIA	chr10:26223196-26501456	The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; Arthritis, Rheumatoid|Rheumatoid Arthritis; depression; colorectal cancer	Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration.		GO:0006468;protein phosphorylation;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0016310;phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0050896;response to stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA|GO:0030175;filopodium;IDA|GO:0031941;filamentous actin;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030898;actin-dependent ATPase activity;IDA|GO:0043531;ADP binding;IDA|GO:0060002;plus-end directed microfilament motor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYO3A	https://www.uniprot.org/uniprot/Q8NEV4	https://hpo.jax.org/app/browse/search?q=MYO3A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606808	http://www.informatics.jax.org/searchtool/Search.do?query=MYO3A&submit=Quick%0D%2260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO3A	rs3818957	0.180511	0.1299	0.1754	1	0	0	intronic	intronic	intronic	MYO3A	MYO3A	ENSG00000095777	Na	Na	Na	Na	Na	Na	Het;A>C	698;38|34	Hom;A>C	2269;0|82
N	N	-	10	26639300	26639300	G	A	snp	intergenic	 	 	 	 	GAD2	Gad2	ENSG00000136750	glutamate decarboxylase 2	chr10:26505236-26593487	This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]	Cholesterol; anxiety disorder; depressive disorder, major; neuroticism; Hypercholesterolemia|LDLC levels; body mass glucose tolerance glycemia obesity, localized; Alzheimer's disease ; several psychiatric disorders; schizophrenia; Alcoholism; Cleft Lip|Cleft Palate; Atherosclerosis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Angiopathies; Bulimia; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Coronary Artery Disease; obesity; birth weight; Tobacco Use Disorder; Body Weight; alcoholism; depression; Autism; Waist Circumference; Schizophrenia; alcohol; Type 2 Diabetes| edema | rosiglitazone; Weight Gain; Body Mass Index; alcohol consumption; Body Fat Distribution; diabetes, type 1; Hyperandrogenism|Obesity|Puberty, Precocious; obesity; Body Weights and Measures	Homozygotes for targeted null mutations exhibit spontaneous (frequently fatal) seizures, increased anxiety-like behavior, and reduced intermale aggression. Heterozygotes show reduced aggressiveness.	GABA synthesis, release, reuptake and degradation	GO:0006540;glutamate decarboxylation to succinate;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0019752;carboxylic acid metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;IEA|GO:0042493;response to drug;IEA	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0060077;inhibitory synapse;IEA|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS	GO:0003824;catalytic activity;IEA|GO:0004351;glutamate decarboxylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016595;glutamate binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GAD2	https://www.uniprot.org/uniprot/Q05329		https://www.ncbi.nlm.nih.gov/omim/?term=138275	http://www.informatics.jax.org/searchtool/Search.do?query=GAD2&submit=Quick%0D%7395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAD2	rs2050440	0.577077	0	0	1	0	0	intergenic	intergenic	intergenic	GAD2(dist=45809),APBB1IP(dist=87966)	GAD2(dist=45809),APBB1IP(dist=87966)	ENSG00000136750(dist=45813),ENSG00000077420(dist=87832)	Na	Na	Na	Na	Na	Na	Het;G>A	313;28|18	Hom;G>A	900;0|35
N	N	-	10	2689522	2689522	A	ATCTG	indel	intergenic	 	 	 	 	AL713851.1																		rs113282269	0.375799	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00701(dist=332254),PFKP(dist=420190)	LINC00701(dist=332254),PFKP(dist=420190)	ENSG00000235281(dist=80091),ENSG00000231743(dist=288691)	Na	Na	Na	Na	Na	Na	Het;+TCTG	1032;41|27	Hom;+TCTG	2768;2|61
N	N	-	10	2689752	2689752	T	C	snp	intergenic	 	 	 	 	AL713851.1																		rs4596970	0.36242	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00701(dist=332484),PFKP(dist=419960)	LINC00701(dist=332484),PFKP(dist=419960)	ENSG00000235281(dist=80321),ENSG00000231743(dist=288461)	Na	Na	Na	Na	Na	Na	Het;T>C	270;4|8	Hom;T>C	738;0|19
N	N	-	10	26928067	26928067	A	T	snp	intergenic	 	 	 	 	FAM238A																		rs1148159	0.230431	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00264(dist=44816),LINC00202-2(dist=3970)	LINC00264(dist=44816),LINC00202-2(dist=3970)	ENSG00000233261(dist=44814),ENSG00000231976(dist=4031)	Na	Na	Na	Na	Na	Na	Het;A>T	120;5|7	Hom;A>T	348;0|13
N	N	-	10	26928383	26928383	C	T	snp	intergenic	 	 	 	 	FAM238A																		rs1148160	0.230032	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00264(dist=45132),LINC00202-2(dist=3654)	LINC00264(dist=45132),LINC00202-2(dist=3654)	ENSG00000233261(dist=45130),ENSG00000231976(dist=3715)	Na	Na	Na	Na	Na	Na	Het;C>T	107;10|7	Hom;C>T	576;1|23
N	N	-	10	26928974	26928974	C	T	snp	intergenic	 	 	 	 	FAM238A																		rs1148161	0.226238	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00264(dist=45723),LINC00202-2(dist=3063)	LINC00264(dist=45723),LINC00202-2(dist=3063)	ENSG00000233261(dist=45721),ENSG00000231976(dist=3124)	Na	Na	Na	Na	Na	Na	Het;C>T	326;19|15	Hom;C>T	1365;0|48
N	N	-	10	26929313	26929313	G	A	snp	intergenic	 	 	 	 	FAM238A																		rs1148162	0.226238	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00264(dist=46062),LINC00202-2(dist=2724)	LINC00264(dist=46062),LINC00202-2(dist=2724)	ENSG00000233261(dist=46060),ENSG00000231976(dist=2785)	Na	Na	Na	Na	Na	Na	Het;G>A	1050;46|49	Hom;G>A	2349;2|86
N	N	-	10	26929671	26929671	G	C	snp	intergenic	 	 	 	 	FAM238A																		rs1148163	0.226637	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00264(dist=46420),LINC00202-2(dist=2366)	LINC00264(dist=46420),LINC00202-2(dist=2366)	ENSG00000233261(dist=46418),ENSG00000231976(dist=2427)	Na	Na	Na	Na	Na	Na	Het;G>C	314;19|16	Hom;G>C	1219;0|45
N	N	-	10	26932323	26932323	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1677724	0.233626	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976,ENSG00000234296	Na	Na	Na	Na	Na	Na	Het;A>G	1279;68|60	Hom;A>G	3223;0|116
N	N	-	10	26932699	26932699	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1748335	0.229433	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>C	543;31|26	Hom;G>C	2205;0|70
N	N	-	10	26932964	26932964	T	G	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1677723	0.216653	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;T>G	1092;36|32	Hom;T>G	3310;0|78
N	N	-	10	26932971	26932971	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1748334	0.216653	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>C	1049;35|26	Hom;G>C	3094;0|68
N	N	-	10	26933522	26933522	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1748333	0.216653	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;T>C	1612;73|74	Hom;T>C	3925;0|138
N	N	-	10	26933906	26933906	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1748332	0.215855	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976,ENSG00000234296	Na	Na	Na	Na	Na	Na	Het;C>A	727;39|34	Hom;C>A	2521;0|86
N	N	-	10	26934152	26934152	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1677722	0.232628	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;C>T	1474;89|68	Hom;C>T	2868;0|105
N	N	-	10	26935049	26935049	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1020976	0.233427	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>C	1122;65|49	Hom;G>C	4199;0|141
N	N	-	10	26935288	26935288	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1031860	0.216653	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;C>T	744;56|36	Hom;C>T	3257;0|120
N	N	-	10	26935732	26935732	A	C	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1031859	0.23742	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;A>C	1221;48|54	Hom;A>C	2389;5|92
N	N	-	10	26935887	26935888	AT	A	indel	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs34995416	0.23742	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;-T	1260;57|39	Hom;-T	3319;0|83
N	N	-	10	26936405	26936405	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs2477266	0.237021	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;C>A	2336;139|115	Hom;C>A	6597;1|244
N	N	-	10	26936570	26936570	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1986037	0.241813	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>A	1213;76|54	Hom;G>A	3102;1|107
N	N	-	10	26936851	26936851	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs1853684	0.216054	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>A	1707;68|76	Hom;G>A	3192;2|116
N	N	-	10	26937258	26937258	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00202-2																		rs1886379	0.300919	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;A>G	217;9|10	Hom;A>G	1360;1|53
N	N	-	10	26938158	26938158	G	T	snp	ncRNA_intronic	 	 	 	 	LINC00202-2																		rs2489580	0.225639	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>T	409;6|13	Hom;G>T	605;0|15
N	N	-	10	26938258	26938258	T	G	snp	ncRNA_intronic	 	 	 	 	LINC00202-2																		rs2477269	0.535743	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;T>G	543;44|23	Hom;T>G	1352;0|46
N	N	-	10	26938294	26938294	T	C	snp	ncRNA_exonic	 	 	 	 	FAM238B																		rs17558423	0.280551	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;T>C	561;65|26	Hom;T>C	1751;0|60
N	N	-	10	26938329	26938329	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs2448100	0.366813	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;T>C	720;77|34	Hom;T>C	2416;0|75
N	N	-	10	26938509	26938509	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs2489579	0.357827	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>A	1562;67|69	Hom;G>A	3916;0|137
N	N	-	10	26939401	26939401	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00202-2																		rs3101793	0.236621	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;A>G	471;7|18	Hom;A>G	479;1|17
N	N	-	10	26939667	26939667	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs3101792	0.298522	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;G>A	368;20|18	Hom;G>A	1497;0|57
N	N	-	10	26939757	26939757	C	G	snp	ncRNA_intronic	 	 	 	 	LINC00202-2																		rs2489578	0.366014	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;C>G	201;1|6	Hom;C>G	394;0|10
N	N	-	10	26939762	26939762	T	A	snp	ncRNA_intronic	 	 	 	 	LINC00202-2																		rs2489577	0.366014	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;T>A	179;1|5	Hom;T>A	362;0|7
N	N	-	10	26942309	26942309	A	AC	indel	ncRNA_exonic	 	 	 	 	LINC00202-2																		rs398013066	0.235423	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00202-2	LINC00202-2	ENSG00000231976	Na	Na	Na	Na	Na	Na	Het;+C	645;47|30	Hom;+C	2236;1|75
N	N	-	10	26953432	26953432	A	C	snp	ncRNA_intronic	 	 	 	 	AL390961.1																		rs3118164	0.446486	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00202-2(dist=11049),PDSS1(dist=33163)	LINC00202-2(dist=11049),PDSS1(dist=33163)	ENSG00000227932	Na	Na	Na	Na	Na	Na	Het;A>C	191;1|6	Hom;A>C	105;0|4
N	N	-	10	26993597	26993598	AT	A	indel	intronic	 	 	 	 	PDSS1	Pdss1	ENSG00000148459	decaprenyl diphosphate synthase subunit 1	chr10:26986588-27035727	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Non-Hodgkin; Alcoholism	 	Ubiquinol biosynthesis	GO:0006744;ubiquinone biosynthetic process;TAS|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0051290;protein heterotetramerization;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990234;transferase complex;IDA	GO:0000010;trans-hexaprenyltranstransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050347;trans-octaprenyltranstransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDSS1	https://www.uniprot.org/uniprot/Q5T2R2	https://hpo.jax.org/app/browse/search?q=PDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607429	http://www.informatics.jax.org/searchtool/Search.do?query=PDSS1&submit=Quick%0D%9123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDSS1	rs34296355	0.23742	0.2631	0.3058	1	0	0	intronic	intronic	intronic	PDSS1	PDSS1	ENSG00000148459	Na	Na	Na	Na	Na	Na	Het;-T	1481;54|58	Hom;-T	3592;0|114
N	N	-	10	26993725	26993725	G	A	snp	intronic	 	 	 	 	PDSS1	Pdss1	ENSG00000148459	decaprenyl diphosphate synthase subunit 1	chr10:26986588-27035727	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Non-Hodgkin; Alcoholism	 	Ubiquinol biosynthesis	GO:0006744;ubiquinone biosynthetic process;TAS|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0051290;protein heterotetramerization;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990234;transferase complex;IDA	GO:0000010;trans-hexaprenyltranstransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050347;trans-octaprenyltranstransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDSS1	https://www.uniprot.org/uniprot/Q5T2R2	https://hpo.jax.org/app/browse/search?q=PDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607429	http://www.informatics.jax.org/searchtool/Search.do?query=PDSS1&submit=Quick%0D%9123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDSS1	rs1677730	0.450479	0.5112	0	1	0	0	intronic	intronic	intronic	PDSS1	PDSS1	ENSG00000148459	Na	Na	Na	Na	Na	Na	Het;G>A	1173;37|33	Hom;G>A	3221;0|85
N	N	-	10	26993737	26993737	A	T	snp	intronic	 	 	 	 	PDSS1	Pdss1	ENSG00000148459	decaprenyl diphosphate synthase subunit 1	chr10:26986588-27035727	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Non-Hodgkin; Alcoholism	 	Ubiquinol biosynthesis	GO:0006744;ubiquinone biosynthetic process;TAS|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0051290;protein heterotetramerization;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990234;transferase complex;IDA	GO:0000010;trans-hexaprenyltranstransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050347;trans-octaprenyltranstransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDSS1	https://www.uniprot.org/uniprot/Q5T2R2	https://hpo.jax.org/app/browse/search?q=PDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607429	http://www.informatics.jax.org/searchtool/Search.do?query=PDSS1&submit=Quick%0D%9123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDSS1	rs1780193	0.44988	0	0	1	0	0	intronic	intronic	intronic	PDSS1	PDSS1	ENSG00000148459	Na	Na	Na	Na	Na	Na	Het;A>T	1092;29|29	Hom;A>T	2602;0|60
N	N	-	10	26994150	26994150	A	C	snp	intronic	 	 	 	 	PDSS1	Pdss1	ENSG00000148459	decaprenyl diphosphate synthase subunit 1	chr10:26986588-27035727	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Non-Hodgkin; Alcoholism	 	Ubiquinol biosynthesis	GO:0006744;ubiquinone biosynthetic process;TAS|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0051290;protein heterotetramerization;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990234;transferase complex;IDA	GO:0000010;trans-hexaprenyltranstransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050347;trans-octaprenyltranstransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDSS1	https://www.uniprot.org/uniprot/Q5T2R2	https://hpo.jax.org/app/browse/search?q=PDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607429	http://www.informatics.jax.org/searchtool/Search.do?query=PDSS1&submit=Quick%0D%9123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDSS1	rs1780192	0.450679	0	0	1	0	0	intronic	intronic	intronic	PDSS1	PDSS1	ENSG00000148459	Na	Na	Na	Na	Na	Na	Het;A>C	373;12|14	Hom;A>C	535;0|20
N	N	-	10	26994345	26994345	G	A	snp	intronic	 	 	 	 	PDSS1	Pdss1	ENSG00000148459	decaprenyl diphosphate synthase subunit 1	chr10:26986588-27035727	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Non-Hodgkin; Alcoholism	 	Ubiquinol biosynthesis	GO:0006744;ubiquinone biosynthetic process;TAS|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0051290;protein heterotetramerization;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990234;transferase complex;IDA	GO:0000010;trans-hexaprenyltranstransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050347;trans-octaprenyltranstransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDSS1	https://www.uniprot.org/uniprot/Q5T2R2	https://hpo.jax.org/app/browse/search?q=PDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607429	http://www.informatics.jax.org/searchtool/Search.do?query=PDSS1&submit=Quick%0D%9123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDSS1	rs1748356	0.450679	0.5094	0.5496	1	0	0	intronic	intronic	intronic	PDSS1	PDSS1	ENSG00000148459	Na	Na	Na	Na	Na	Na	Het;G>A	1060;25|43	Hom;G>A	1649;0|62
N	N	-	10	26994412	26994412	T	C	snp	intronic	 	 	 	 	PDSS1	Pdss1	ENSG00000148459	decaprenyl diphosphate synthase subunit 1	chr10:26986588-27035727	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Non-Hodgkin; Alcoholism	 	Ubiquinol biosynthesis	GO:0006744;ubiquinone biosynthetic process;TAS|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0051290;protein heterotetramerization;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990234;transferase complex;IDA	GO:0000010;trans-hexaprenyltranstransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050347;trans-octaprenyltranstransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDSS1	https://www.uniprot.org/uniprot/Q5T2R2	https://hpo.jax.org/app/browse/search?q=PDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607429	http://www.informatics.jax.org/searchtool/Search.do?query=PDSS1&submit=Quick%0D%9123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDSS1	rs1780191	0.238419	0	0	1	0	0	intronic	intronic	intronic	PDSS1	PDSS1	ENSG00000148459	Na	Na	Na	Na	Na	Na	Het;T>C	319;5|13	Hom;T>C	587;0|18
N	N	-	10	26998739	26998739	G	C	snp	intronic	 	 	 	 	PDSS1	Pdss1	ENSG00000148459	decaprenyl diphosphate synthase subunit 1	chr10:26986588-27035727	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Non-Hodgkin; Alcoholism	 	Ubiquinol biosynthesis	GO:0006744;ubiquinone biosynthetic process;TAS|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0051290;protein heterotetramerization;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990234;transferase complex;IDA	GO:0000010;trans-hexaprenyltranstransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050347;trans-octaprenyltranstransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDSS1	https://www.uniprot.org/uniprot/Q5T2R2	https://hpo.jax.org/app/browse/search?q=PDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607429	http://www.informatics.jax.org/searchtool/Search.do?query=PDSS1&submit=Quick%0D%9123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDSS1	rs2368183	0.237819	0.2630	0.3052	1	0	0	intronic	intronic	intronic	PDSS1	PDSS1	ENSG00000148459	Na	Na	Na	Na	Na	Na	Het;G>C	486;19|20	Hom;G>C	1182;0|42
N	N	-	10	27221542	27221542	A	C	snp	ncRNA_intronic	 	 	 	 	LINC00202-1																		rs2477934	0.773363	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00202-1	LINC00202-1	ENSG00000232224	Na	Na	Na	Na	Na	Na	Het;A>C	53;2|4	Hom;A>C	163;0|7
N	N	-	10	27234815	27234815	G	T	snp	intergenic	 	 	 	 	ENSG00000236983																		rs787724	0.627396	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00202-1(dist=3885),ANKRD26(dist=58230)	LINC00202-1(dist=3885),ANKRD26(dist=58230)	ENSG00000236983(dist=1468),ENSG00000107890(dist=46028)	Na	Na	Na	Na	Na	Na	Het;G>T	217;17|12	Hom;G>T	323;1|15
N	N	-	10	27401056	27401056	C	T	snp	intronic	 	 	 	 	YME1L1	Yme1l1	ENSG00000136758	YME1 like 1 ATPase	chr10:27399383-27444195	The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5.	Processing of SMDT1	GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YME1L1	https://www.uniprot.org/uniprot/Q96TA2	https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607472	http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1	rs11015538	0.347244	0.2208	0.2536	1	0	0	intronic	intronic	intronic	YME1L1	YME1L1	ENSG00000136758	Na	Na	Na	Na	Na	Na	Het;C>T	758;49|37	Hom;C>T	2310;0|86
N	N	-	10	27405096	27405096	A	G	snp	intronic	 	 	 	 	YME1L1	Yme1l1	ENSG00000136758	YME1 like 1 ATPase	chr10:27399383-27444195	The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5.	Processing of SMDT1	GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YME1L1	https://www.uniprot.org/uniprot/Q96TA2	https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607472	http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1	rs2297152	0.347045	0.2208	0.2532	1	0	0	intronic	intronic	intronic	YME1L1	YME1L1	ENSG00000136758	Na	Na	Na	Na	Na	Na	Het;A>G	1007;72|53	Hom;A>G	3190;0|116
N	N	-	10	27405360	27405360	G	GC	indel	intronic	 	 	 	 	YME1L1	Yme1l1	ENSG00000136758	YME1 like 1 ATPase	chr10:27399383-27444195	The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5.	Processing of SMDT1	GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YME1L1	https://www.uniprot.org/uniprot/Q96TA2	https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607472	http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1	rs35804170	0.348842	0	0	1	0	0	intronic	intronic	intronic	YME1L1	YME1L1	ENSG00000136758	Na	Na	Na	Na	Na	Na	Het;+C	353;6|12	Hom;+C	854;0|23
N	N	-	10	27412669	27412669	A	T	snp	intronic	 	 	 	 	YME1L1	Yme1l1	ENSG00000136758	YME1 like 1 ATPase	chr10:27399383-27444195	The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5.	Processing of SMDT1	GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YME1L1	https://www.uniprot.org/uniprot/Q96TA2	https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607472	http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1	rs2274743	0.340056	0.1977	0.2527	1	0	0	intronic	intronic	intronic	YME1L1	YME1L1	ENSG00000136758	Na	Na	Na	Na	Na	Na	Het;A>T	250;16|14	Hom;A>T	947;0|37
N	N	-	10	27434483	27434483	G	A	snp	synonymous SNV	C205T	L69L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	YME1L1	Yme1l1	ENSG00000136758	YME1 like 1 ATPase	chr10:27399383-27444195	The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5.	Processing of SMDT1	GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YME1L1	https://www.uniprot.org/uniprot/Q96TA2	https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607472	http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1	rs2274634	0.348842	0.2229	0.2540	1	0	0	exonic	exonic	exonic	YME1L1	YME1L1	ENSG00000136758	synonymous SNV	synonymous SNV	unknown	YME1L1:NM_014263:exon3:c.C205T:p.L69L,YME1L1:NM_139312:exon4:c.C376T:p.L126L,YME1L1:NM_001253866:exon3:c.C205T:p.L69L,	YME1L1:uc001itj.3:exon3:c.C205T:p.L69L,YME1L1:uc001iti.3:exon4:c.C376T:p.L126L,YME1L1:uc010qdl.2:exon3:c.C205T:p.L69L,	UNKNOWN	Het;G>A	1727;126|89	Hom;G>A	4695;0|179
N	N	-	10	27437994	27437994	C	T	snp	intronic	 	 	 	 	YME1L1	Yme1l1	ENSG00000136758	YME1 like 1 ATPase	chr10:27399383-27444195	The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5.	Processing of SMDT1	GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YME1L1	https://www.uniprot.org/uniprot/Q96TA2	https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607472	http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1	rs10764675	0.347244	0.2197	0.2537	1	0	0	intronic	intronic	intronic	YME1L1	YME1L1	ENSG00000136758	Na	Na	Na	Na	Na	Na	Het;C>T	1252;45|54	Hom;C>T	3151;0|114
N	N	-	10	27577568	27577568	G	A	snp	ncRNA_intronic	 	 	 	 	AK125237																		rs2780686	0.925719	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	LRRC37A6P(dist=36333),PTCHD3(dist=109549)	AK125237	ENSG00000238021	Na	Na	Na	Na	Na	Na	Het;G>A	439;19|22	Hom;G>A	921;0|35
N	N	-	10	27629880	27629880	T	C	snp	ncRNA_exonic	 	 	 	 	AL355493.1																		rs237597	0.941494	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LRRC37A6P(dist=88645),PTCHD3(dist=57237)	AK125237(dist=52127),PTCHD3(dist=57237)	ENSG00000215409	Na	Na	Na	Na	Na	Na	Het;T>C	1548;34|68	Hom;T>C	3048;0|109
N	N	-	10	28341714	28341714	T	C	snp	UTR3	*1280A>G	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs3802519	0.253794	0	0	1	0	0	UTR3	UTR3	UTR3	MPP7(NM_173496:c.*1280A>G)	MPP7(uc001iua.1:c.*1280A>G,uc001iub.1:c.*1280A>G,uc009xla.2:c.*1280A>G)	ENSG00000150054(ENST00000337532:c.*1280A>G,ENST00000375732:c.*1280A>G,ENST00000496637:c.*1780A>G,ENST00000540098:c.*1280A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1009;57|39	Hom;T>C	2483;0|80
N	N	-	10	28341783	28341783	C	T	snp	UTR3	*1211G>A	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs3802520	0.377995	0	0	1	0	0	UTR3	UTR3	UTR3	MPP7(NM_173496:c.*1211G>A)	MPP7(uc001iua.1:c.*1211G>A,uc001iub.1:c.*1211G>A,uc009xla.2:c.*1211G>A)	ENSG00000150054(ENST00000337532:c.*1211G>A,ENST00000375732:c.*1211G>A,ENST00000496637:c.*1711G>A,ENST00000540098:c.*1211G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1635;119|80	Hom;C>T	3643;0|129
N	N	-	10	28341812	28341812	T	C	snp	UTR3	*1182A>G	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs3802521	0.315296	0	0	1	0	0	UTR3	UTR3	UTR3	MPP7(NM_173496:c.*1182A>G)	MPP7(uc001iua.1:c.*1182A>G,uc001iub.1:c.*1182A>G,uc009xla.2:c.*1182A>G)	ENSG00000150054(ENST00000337532:c.*1182A>G,ENST00000375732:c.*1182A>G,ENST00000496637:c.*1682A>G,ENST00000540098:c.*1182A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1895;110|86	Hom;T>C	4071;0|135
N	N	-	10	28341885	28341885	C	T	snp	UTR3	*1109G>A	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs3802523	0.316693	0	0	1	0	0	UTR3	UTR3	UTR3	MPP7(NM_173496:c.*1109G>A)	MPP7(uc001iua.1:c.*1109G>A,uc001iub.1:c.*1109G>A,uc009xla.2:c.*1109G>A)	ENSG00000150054(ENST00000337532:c.*1109G>A,ENST00000375732:c.*1109G>A,ENST00000496637:c.*1609G>A,ENST00000540098:c.*1109G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1947;119|91	Hom;C>T	4724;0|175
N	N	-	10	28346584	28346584	G	A	snp	UTR3	*102C>T	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs12217744	0.319089	0	0	1	0	0	intronic	intronic	UTR3	MPP7	MPP7	ENSG00000150054(ENST00000445954:c.*102C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	640;36|30	Hom;G>A	1016;0|37
N	N	-	10	28346629	28346629	A	AGT	indel	UTR3	*57T>ACT	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs76671899	0.381789	0	0	1	0	0	intronic	intronic	UTR3	MPP7	MPP7	ENSG00000150054(ENST00000445954:c.*57T>ACT)	Na	Na	Na	Na	Na	Na	Het;+GT	2081;55|54	Hom;+GT	3425;0|77
N	N	-	10	28347615	28347615	G	A	snp	intronic	 	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs12570424	0.440495	0	0	1	0	0	intronic	intronic	intronic	MPP7	MPP7	ENSG00000150054	Na	Na	Na	Na	Na	Na	Het;G>A	157;15|7	Hom;G>A	630;0|20
N	N	-	10	28552553	28552554	CA	C	indel	intronic	 	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs56826871	0.36262	0	0	1	0	0	intronic	intronic	intronic	MPP7	MPP7	ENSG00000150054	Na	Na	Na	Na	Na	Na	Het;-A	60;2|3	Hom;-A	124;0|5
N	N	-	10	28591499	28591499	T	G	snp	intronic	 	 	 	 	MPP7	Mpp7	ENSG00000150054	membrane palmitoylated protein 7	chr10:28339922-28623415	The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Asthma; Cardiovascular Diseases; Body Mass Index; Echocardiography; Iron; Alzheimer's disease ; Alzheimer Disease; Tobacco Use Disorder; Electrocardiography	 		GO:0009967;positive regulation of signal transduction;IEA|GO:0030010;establishment of cell polarity;TAS|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0070830;bicellular tight junction assembly;IDA|GO:0071896;protein localization to adherens junction;IMP	GO:0005654;nucleoplasm;IDA|GO:0005912;adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0097025;MPP7-DLG1-LIN7 complex;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0035591;signaling adaptor activity;NAS|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPP7	https://www.uniprot.org/uniprot/Q5T2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610973	http://www.informatics.jax.org/searchtool/Search.do?query=MPP7&submit=Quick%0D%9301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP7	rs7915405	0.241014	0	0	1	0	0	intergenic	intronic	intronic	MIR8086(dist=13220),WAC-AS1(dist=217347)	MPP7	ENSG00000150054	Na	Na	Na	Na	Na	Na	Het;T>G	38;7|4	Hom;T>G	253;0|12
N	N	-	10	28642046	28642046	G	C	snp	intergenic	 	 	 	 	ZNF101P1																		rs703028	0.554313	0	0	1	0	0	intergenic	intergenic	intergenic	MIR8086(dist=63767),WAC-AS1(dist=166800)	MPP7(dist=50051),WAC-AS1(dist=166800)	ENSG00000237746(dist=12175),ENSG00000222666(dist=54923)	Na	Na	Na	Na	Na	Na	Het;G>C	661;32|28	Hom;G>C	1786;0|60
N	N	-	10	29783984	29783989	GAAACT	G	indel	intronic	 	 	 	 	SVIL	Svil	ENSG00000197321	supervillin	chr10:29746267-30025710	This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]	Multiple Sclerosis; Cell Adhesion Molecules; Receptors, Tumor Necrosis Factor, Type II; Tobacco Use Disorder; Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; normalized brain volume, multiple sclerosis; Diabetes Mellitus; Body Height; cardiac stroke volume to regular exercise	Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation.		GO:0007010;cytoskeleton organization;IEA|GO:0007519;skeletal muscle tissue development;IMP|GO:0032467;positive regulation of cytokinesis;ISS	GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IEA|GO:0032154;cleavage furrow;IEA|GO:0036449;microtubule minus-end;ISS|GO:0042995;cell projection;IEA|GO:0043034;costamere;IDA|GO:0071437;invadopodium;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SVIL			https://www.ncbi.nlm.nih.gov/omim/?term=604126	http://www.informatics.jax.org/searchtool/Search.do?query=SVIL&submit=Quick%0D%16594ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIL	rs3031505	0.530351	0.2425	0.1103	1	0	0	intronic	intronic	intronic	SVIL	SVIL	ENSG00000197321	Na	Na	Na	Na	Na	Na	Het;-AAACT	1249;81|52	Hom;-AAACT	2128;2|51
N	N	-	10	29834095	29834095	G	A	snp	intronic	 	 	 	 	SVIL	Svil	ENSG00000197321	supervillin	chr10:29746267-30025710	This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]	Multiple Sclerosis; Cell Adhesion Molecules; Receptors, Tumor Necrosis Factor, Type II; Tobacco Use Disorder; Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; normalized brain volume, multiple sclerosis; Diabetes Mellitus; Body Height; cardiac stroke volume to regular exercise	Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation.		GO:0007010;cytoskeleton organization;IEA|GO:0007519;skeletal muscle tissue development;IMP|GO:0032467;positive regulation of cytokinesis;ISS	GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IEA|GO:0032154;cleavage furrow;IEA|GO:0036449;microtubule minus-end;ISS|GO:0042995;cell projection;IEA|GO:0043034;costamere;IDA|GO:0071437;invadopodium;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SVIL			https://www.ncbi.nlm.nih.gov/omim/?term=604126	http://www.informatics.jax.org/searchtool/Search.do?query=SVIL&submit=Quick%0D%16594ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIL	rs4463752	0.567492	0.5302	0	1	0	0	intronic	intronic	intronic	SVIL	SVIL	ENSG00000197321	Na	Na	Na	Na	Na	Na	Het;G>A	474;17|21	Hom;G>A	1074;0|31
N	N	-	10	29839798	29839798	A	G	snp	synonymous SNV	T555C	Y185Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	SVIL	Svil	ENSG00000197321	supervillin	chr10:29746267-30025710	This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]	Multiple Sclerosis; Cell Adhesion Molecules; Receptors, Tumor Necrosis Factor, Type II; Tobacco Use Disorder; Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; normalized brain volume, multiple sclerosis; Diabetes Mellitus; Body Height; cardiac stroke volume to regular exercise	Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation.		GO:0007010;cytoskeleton organization;IEA|GO:0007519;skeletal muscle tissue development;IMP|GO:0032467;positive regulation of cytokinesis;ISS	GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IEA|GO:0032154;cleavage furrow;IEA|GO:0036449;microtubule minus-end;ISS|GO:0042995;cell projection;IEA|GO:0043034;costamere;IDA|GO:0071437;invadopodium;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SVIL			https://www.ncbi.nlm.nih.gov/omim/?term=604126	http://www.informatics.jax.org/searchtool/Search.do?query=SVIL&submit=Quick%0D%16594ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIL	rs17834991	0.157947	0.1550	0.1921	1	0	0	exonic	exonic	exonic	SVIL	SVIL	ENSG00000197321	synonymous SNV	synonymous SNV	unknown	SVIL:NM_021738:exon6:c.T555C:p.Y185Y,SVIL:NM_003174:exon8:c.T555C:p.Y185Y,	SVIL:uc009xld.1:exon8:c.T555C:p.Y185Y,SVIL:uc031ptq.1:exon3:c.T555C:p.Y185Y,SVIL:uc001iuu.1:exon8:c.T555C:p.Y185Y,SVIL:uc001iut.1:exon6:c.T555C:p.Y185Y,	UNKNOWN	Het;A>G	2740;122|131	Hom;A>G	5155;0|192
N	N	-	10	29854926	29854926	G	C	snp	intronic	 	 	 	 	SVIL	Svil	ENSG00000197321	supervillin	chr10:29746267-30025710	This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]	Multiple Sclerosis; Cell Adhesion Molecules; Receptors, Tumor Necrosis Factor, Type II; Tobacco Use Disorder; Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; normalized brain volume, multiple sclerosis; Diabetes Mellitus; Body Height; cardiac stroke volume to regular exercise	Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation.		GO:0007010;cytoskeleton organization;IEA|GO:0007519;skeletal muscle tissue development;IMP|GO:0032467;positive regulation of cytokinesis;ISS	GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IEA|GO:0032154;cleavage furrow;IEA|GO:0036449;microtubule minus-end;ISS|GO:0042995;cell projection;IEA|GO:0043034;costamere;IDA|GO:0071437;invadopodium;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SVIL			https://www.ncbi.nlm.nih.gov/omim/?term=604126	http://www.informatics.jax.org/searchtool/Search.do?query=SVIL&submit=Quick%0D%16594ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIL	rs6481616	0.571885	0	0	1	0	0	intronic	intronic	intronic	SVIL	SVIL	ENSG00000197321	Na	Na	Na	Na	Na	Na	Het;G>C	473;35|23	Hom;G>C	1933;4|77
N	N	-	10	30645320	30645320	C	T	snp	ncRNA_exonic	 	 	 	 	DNM1P17																		rs11008009	0.326078	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	MTPAP(dist=7053),GOLGA2P6(dist=7936)	MTPAP	ENSG00000250833	Na	Na	Na	Na	Na	Na	Het;C>T	71;4|4	Hom;C>T	156;0|5
N	N	-	10	30799796	30799796	T	C	snp	intergenic	 	 	 	 	MAP3K8	Map3k8	ENSG00000107968	mitogen-activated protein kinase kinase kinase 8	chr10:30722866-30750762	This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]	Tobacco Use Disorder; Alzheimer's disease ; Hematocrit; Amyotrophic Lateral Sclerosis; Bipolar Disorder; cardiac stroke volume to regular exercise	Mutant mice resist endotoxic shock. Their MHC II expression is enhanced. Macrophages' TNF-alpha response to viruses and to all TLR ligands is impaired. Macrophage and T-cell secretion of other cytokines in response to various TLR ligands or OVA is aberrant. Anti-OVA Ig classes are abnormally skewed.	MAP3K8 (TPL2)-dependent MAPK1/3 activation	GO:0000186;activation of MAPKK activity;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0031295;T cell costimulation;TAS|GO:0051403;stress-activated MAPK cascade;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004709;MAP kinase kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP3K8	https://www.uniprot.org/uniprot/P41279	https://hpo.jax.org/app/browse/search?q=MAP3K8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191195	http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K8&submit=Quick%0D%3667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K8	rs3118958	0.502396	0	0	1	0	0	intergenic	intergenic	intergenic	MAP3K8(dist=49034),LYZL2(dist=100912)	MAP3K8(dist=49034),LYZL2(dist=100912)	ENSG00000107968(dist=49034),ENSG00000213778(dist=6749)	Na	Na	Na	Na	Na	Na	Het;T>C	111;10|7	Hom;T>C	719;0|23
N	N	-	10	30978433	30978433	A	G	snp	ncRNA_intronic	 	 	 	 	SVILP1																		rs4747723	0.276957	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LYZL2(dist=59786),SVILP1(dist=2770)	LYZL2(dist=59786),AK302694(dist=2770)	ENSG00000234814	Na	Na	Na	Na	Na	Na	Het;A>G	306;16|12	Hom;A>G	388;0|12
N	N	-	10	30980037	30980037	C	T	snp	ncRNA_exonic	 	 	 	 	SVILP1																		rs11008184	0.24381	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LYZL2(dist=61390),SVILP1(dist=1166)	LYZL2(dist=61390),AK302694(dist=1166)	ENSG00000234814	Na	Na	Na	Na	Na	Na	Het;C>T	421;30|20	Hom;C>T	1537;0|60
N	N	-	10	30981269	30981269	A	G	snp	ncRNA_intronic	 	 	 	 	SVILP1																		rs4749584	0.309904	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	SVILP1	AK302694	ENSG00000234814	Na	Na	Na	Na	Na	Na	Het;A>G	737;25|20	Hom;A>G	2685;0|61
N	N	-	10	30981270	30981270	C	T	snp	ncRNA_intronic	 	 	 	 	SVILP1																		rs4749585	0.241214	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	SVILP1	AK302694	ENSG00000234814	Na	Na	Na	Na	Na	Na	Het;C>T	737;25|20	Hom;C>T	2685;0|60
N	N	-	10	30986348	30986348	G	A	snp	ncRNA_exonic	 	 	 	 	SVILP1																		rs4749588	0.240615	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	SVILP1	AK302694(uc010qdx.1:c.-923G>A)	ENSG00000234814	Na	Na	Na	Na	Na	Na	Het;G>A	1714;117|86	Hom;G>A	5690;0|207
N	N	-	10	3147508	3147508	C	T	snp	intronic	 	 	 	 	PFKP	Pfkp	ENSG00000067057	phosphofructokinase, platelet	chr10:3108525-3179904	This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Obesity|Overweight; Triglycerides; Insulin; Hypercholesterolemia|LDLC levels; Waist Circumference; Insulin Resistance; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; obesity	 	Glycolysis	GO:0006002;fructose 6-phosphate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0061615;glycolytic process through fructose-6-phosphate;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003872;6-phosphofructokinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKP	https://www.uniprot.org/uniprot/Q01813		https://www.ncbi.nlm.nih.gov/omim/?term=171840	http://www.informatics.jax.org/searchtool/Search.do?query=PFKP&submit=Quick%0D%1238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKP	rs4881082	0.584864	0	0	1	0	0	intronic	intronic	intronic	PFKP	PFKP	ENSG00000067057	Na	Na	Na	Na	Na	Na	Het;C>T	1748;3|42	Hom;C>T	1806;0|40
N	N	-	10	3147518	3147518	G	C	snp	intronic	 	 	 	 	PFKP	Pfkp	ENSG00000067057	phosphofructokinase, platelet	chr10:3108525-3179904	This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Obesity|Overweight; Triglycerides; Insulin; Hypercholesterolemia|LDLC levels; Waist Circumference; Insulin Resistance; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; obesity	 	Glycolysis	GO:0006002;fructose 6-phosphate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0061615;glycolytic process through fructose-6-phosphate;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003872;6-phosphofructokinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKP	https://www.uniprot.org/uniprot/Q01813		https://www.ncbi.nlm.nih.gov/omim/?term=171840	http://www.informatics.jax.org/searchtool/Search.do?query=PFKP&submit=Quick%0D%1238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKP	rs2388576	0.243211	0	0	1	0	0	intronic	intronic	intronic	PFKP	PFKP	ENSG00000067057	Na	Na	Na	Na	Na	Na	Het;G>C	2053;3|49	Hom;G>C	1952;0|44
N	N	-	10	3147519	3147519	G	C	snp	intronic	 	 	 	 	PFKP	Pfkp	ENSG00000067057	phosphofructokinase, platelet	chr10:3108525-3179904	This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Obesity|Overweight; Triglycerides; Insulin; Hypercholesterolemia|LDLC levels; Waist Circumference; Insulin Resistance; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; obesity	 	Glycolysis	GO:0006002;fructose 6-phosphate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0061615;glycolytic process through fructose-6-phosphate;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003872;6-phosphofructokinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKP	https://www.uniprot.org/uniprot/Q01813		https://www.ncbi.nlm.nih.gov/omim/?term=171840	http://www.informatics.jax.org/searchtool/Search.do?query=PFKP&submit=Quick%0D%1238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKP	rs2892549	0.225639	0	0	1	0	0	intronic	intronic	intronic	PFKP	PFKP	ENSG00000067057	Na	Na	Na	Na	Na	Na	Het;G>C	2053;3|50	Hom;G>C	1952;0|44
N	N	-	10	3161131	3161131	C	T	snp	intronic	 	 	 	 	PFKP	Pfkp	ENSG00000067057	phosphofructokinase, platelet	chr10:3108525-3179904	This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Obesity|Overweight; Triglycerides; Insulin; Hypercholesterolemia|LDLC levels; Waist Circumference; Insulin Resistance; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; obesity	 	Glycolysis	GO:0006002;fructose 6-phosphate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0061615;glycolytic process through fructose-6-phosphate;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003872;6-phosphofructokinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKP	https://www.uniprot.org/uniprot/Q01813		https://www.ncbi.nlm.nih.gov/omim/?term=171840	http://www.informatics.jax.org/searchtool/Search.do?query=PFKP&submit=Quick%0D%1238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKP	rs3829914	0.687899	0	0	1	0	0	intronic	intronic	intronic	PFKP	PFKP	ENSG00000067057	Na	Na	Na	Na	Na	Na	Het;C>T	223;19|12	Hom;C>T	1343;0|46
N	N	-	10	3174499	3174499	G	GC	indel	intronic	 	 	 	 	PFKP	Pfkp	ENSG00000067057	phosphofructokinase, platelet	chr10:3108525-3179904	This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Obesity|Overweight; Triglycerides; Insulin; Hypercholesterolemia|LDLC levels; Waist Circumference; Insulin Resistance; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; obesity	 	Glycolysis	GO:0006002;fructose 6-phosphate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0061615;glycolytic process through fructose-6-phosphate;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003872;6-phosphofructokinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKP	https://www.uniprot.org/uniprot/Q01813		https://www.ncbi.nlm.nih.gov/omim/?term=171840	http://www.informatics.jax.org/searchtool/Search.do?query=PFKP&submit=Quick%0D%1238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKP	rs3830217	0.184305	0	0	1	0	0	intronic	intronic	intronic	PFKP	PFKP	ENSG00000067057	Na	Na	Na	Na	Na	Na	Het;+C	190;22|9	Hom;+C	640;0|19
N	N	-	10	3176389	3176389	C	T	snp	intronic	 	 	 	 	PFKP	Pfkp	ENSG00000067057	phosphofructokinase, platelet	chr10:3108525-3179904	This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Obesity|Overweight; Triglycerides; Insulin; Hypercholesterolemia|LDLC levels; Waist Circumference; Insulin Resistance; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; obesity	 	Glycolysis	GO:0006002;fructose 6-phosphate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0061615;glycolytic process through fructose-6-phosphate;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003872;6-phosphofructokinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKP	https://www.uniprot.org/uniprot/Q01813		https://www.ncbi.nlm.nih.gov/omim/?term=171840	http://www.informatics.jax.org/searchtool/Search.do?query=PFKP&submit=Quick%0D%1238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKP	rs2306311	0.247005	0	0	1	0	0	intronic	intronic	intronic	PFKP	PFKP	ENSG00000067057	Na	Na	Na	Na	Na	Na	Het;C>T	875;47|45	Hom;C>T	2006;0|76
N	N	-	10	31917199	31917205	CAGATGG	C	indel	downstream	 	 	 	 	AL161935.2																		rs60699902	0.799521	0	0	1	0	0	intergenic	intergenic	downstream	ZEB1(dist=98457),ARHGAP12(dist=177121)	JB175196(dist=77145),ARHGAP12(dist=177121)	ENSG00000231855	Na	Na	Na	Na	Na	Na	Het;-AGATGG	1126;16|29	Hom;-AGATGG	2123;0|48
N	N	-	10	32103077	32103077	C	T	snp	intronic	 	 	 	 	ARHGAP12	Arhgap12	ENSG00000165322	Rho GTPase activating protein 12	chr10:32094365-32217742	This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	cardiac stroke volume to regular exercise; Alzheimer's disease 	A null gene trap mutation resulted in no notable phenotype in homozygous mutant mice.	Rho GTPase cycle	GO:0002011;morphogenesis of an epithelial sheet;IMP|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP12			https://www.ncbi.nlm.nih.gov/omim/?term=610577	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP12&submit=Quick%0D%11518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP12	rs2799012	0.507388	0	0	1	0	0	intronic	intronic	intronic	ARHGAP12	ARHGAP12	ENSG00000165322	Na	Na	Na	Na	Na	Na	Het;C>T	282;2|12	Hom;C>T	459;0|15
N	N	-	10	33246904	33246904	C	T	snp	intronic	 	 	 	 	ITGB1	Itgb1	ENSG00000150093	integrin subunit beta 1	chr10:33189247-33294720	Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Depression; Lipoproteins, LDL; atherosclerosis; Inflammation|Myocardial Infarction; blood transfusion complications; Brain Ischemia|Recurrence|Stroke; cardiac stroke volume to regular exercise; myocardial infarction; stroke, ischemic; ovarian cancer; Chylothorax; Alzheimer's disease ; Brain Ischemia|Stroke; myocardial infarct; atherosclerosis, coronary; prostate cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively.	MET interacts with TNS proteins	GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0006968;cellular defense response;TAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;TAS|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0007160;cell-matrix adhesion;IMP|GO:0007161;calcium-independent cell-matrix adhesion;IGI|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008354;germ cell migration;IEA|GO:0008542;visual learning;IEA|GO:0010710;regulation of collagen catabolic process;IDA|GO:0016032;viral process;IEA|GO:0016477;cell migration;TAS|GO:0021943;formation of radial glial scaffolds;IEA|GO:0030183;B cell differentiation;IC|GO:0030198;extracellular matrix organization;TAS|GO:0031175;neuron projection development;IEA|GO:0031589;cell-substrate adhesion;IMP|GO:0031623;receptor internalization;ISS|GO:0033627;cell adhesion mediated by integrin;IDA|GO:0033631;cell-cell adhesion mediated by integrin;IEP|GO:0034113;heterotypic cell-cell adhesion;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045214;sarcomere organization;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0048333;mesodermal cell differentiation;IEP|GO:0048675;axon extension;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0050901;leukocyte tethering or rolling;IMP|GO:0051726;regulation of cell cycle;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;ISS|GO:0071711;basement membrane organization;IEA|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:2000811;negative regulation of anoikis;IMP	GO:0001726;ruffle;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;NAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031594;neuromuscular junction;IDA|GO:0032154;cleavage furrow;IEA|GO:0032587;ruffle membrane;IEA|GO:0034665;integrin alpha1-beta1 complex;IDA|GO:0034666;integrin alpha2-beta1 complex;IDA|GO:0034667;integrin alpha3-beta1 complex;IDA|GO:0034677;integrin alpha7-beta1 complex;IEA|GO:0034678;integrin alpha8-beta1 complex;TAS|GO:0034680;integrin alpha10-beta1 complex;IDA|GO:0034681;integrin alpha11-beta1 complex;IDA|GO:0035748;myelin sheath abaxonal region;IEA|GO:0042383;sarcolemma;IDA|GO:0042470;melanosome;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA|GO:0071438;invadopodium membrane;IDA|GO:0097060;synaptic membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0001968;fibronectin binding;IPI|GO:0002020;protease binding;IPI|GO:0003779;actin binding;IDA|GO:0004872;receptor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;TAS|GO:0019960;C-X3-C chemokine binding;IDA|GO:0032403;protein complex binding;IPI|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050839;cell adhesion molecule binding;IPI|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ITGB1	https://www.uniprot.org/uniprot/P05556		https://www.ncbi.nlm.nih.gov/omim/?term=135630	http://www.informatics.jax.org/searchtool/Search.do?query=ITGB1&submit=Quick%0D%9302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGB1	rs7912985	0.212859	0	0	1	0	0	intronic	intronic	intronic	ITGB1	ITGB1	ENSG00000150093	Na	Na	Na	Na	Na	Na	Het;C>T	41;1|4	Hom;C>T	46;0|3
N	N	-	10	33467108	33467108	G	A	snp	UTR3	*1896C>T	 	 	 	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs10080	0.584665	0	0	1	0	0	UTR3	UTR3	UTR3	NRP1(NM_001244973:c.*1896C>T,NM_003873:c.*1896C>T,NM_001244972:c.*1896C>T)	NRP1(uc001iwv.4:c.*1896C>T,uc001iwy.4:c.*1896C>T,uc009xlz.3:c.*1896C>T,uc001iwx.4:c.*1896C>T,uc001iww.4:c.*1896C>T)	ENSG00000099250(ENST00000265371:c.*1896C>T,ENST00000374875:c.*1896C>T,ENST00000374867:c.*1896C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1236;97|62	Hom;G>A	4071;0|149
N	N	-	10	33467321	33467321	G	T	snp	UTR3	*1683C>A	 	 	 	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs1044210	0.434505	0	0	1	0	0	UTR3	UTR3	UTR3	NRP1(NM_001244973:c.*1683C>A,NM_003873:c.*1683C>A,NM_001244972:c.*1683C>A)	NRP1(uc001iwv.4:c.*1683C>A,uc001iwy.4:c.*1683C>A,uc009xlz.3:c.*1683C>A,uc001iwx.4:c.*1683C>A,uc001iww.4:c.*1683C>A)	ENSG00000099250(ENST00000265371:c.*1683C>A,ENST00000374875:c.*1683C>A,ENST00000374867:c.*1683C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1115;57|51	Hom;G>T	2976;0|81
N	N	-	10	33467411	33467411	G	GT	indel	UTR3	*1593C>AC	 	 	 	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs34299487	0.439497	0	0	1	0	0	UTR3	UTR3	UTR3	NRP1(NM_001244973:c.*1593C>AC,NM_003873:c.*1593C>AC,NM_001244972:c.*1593C>AC)	NRP1(uc001iwv.4:c.*1593C>AC,uc001iwy.4:c.*1593C>AC,uc009xlz.3:c.*1593C>AC,uc001iwx.4:c.*1593C>AC,uc001iww.4:c.*1593C>AC)	ENSG00000099250(ENST00000265371:c.*1593C>AC,ENST00000374875:c.*1593C>AC,ENST00000374867:c.*1593C>AC)	Na	Na	Na	Na	Na	Na	Het;+T	2962;100|111	Hom;+T	5531;2|171
N	N	-	10	33467650	33467650	G	A	snp	UTR3	*1354C>T	 	 	 	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs13324	0.434505	0	0	1	0	0	UTR3	UTR3	UTR3	NRP1(NM_001244973:c.*1354C>T,NM_003873:c.*1354C>T,NM_001244972:c.*1354C>T)	NRP1(uc001iwv.4:c.*1354C>T,uc001iwy.4:c.*1354C>T,uc009xlz.3:c.*1354C>T,uc001iwx.4:c.*1354C>T,uc001iww.4:c.*1354C>T)	ENSG00000099250(ENST00000265371:c.*1354C>T,ENST00000374875:c.*1354C>T,ENST00000374867:c.*1354C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1797;97|92	Hom;G>A	4680;0|174
N	N	-	10	33468014	33468014	T	C	snp	UTR3	*990A>G	 	 	 	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs2506141	0.65635	0	0	1	0	0	UTR3	UTR3	UTR3	NRP1(NM_001244973:c.*990A>G,NM_003873:c.*990A>G,NM_001244972:c.*990A>G)	NRP1(uc001iwv.4:c.*990A>G,uc001iwy.4:c.*990A>G,uc009xlz.3:c.*990A>G,uc001iwx.4:c.*990A>G,uc001iww.4:c.*990A>G)	ENSG00000099250(ENST00000265371:c.*990A>G,ENST00000374875:c.*990A>G,ENST00000374867:c.*990A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1114;59|54	Hom;T>C	3615;1|129
N	N	-	10	33469181	33469181	A	G	snp	synonymous SNV	T2577C	S859S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs1048804	0.424321	0.3255	0.2981	1	0	0	exonic	exonic	exonic	NRP1	NRP1	ENSG00000099250	synonymous SNV	synonymous SNV	unknown	NRP1:NM_001244973:exon17:c.T2574C:p.S858S,NRP1:NM_003873:exon17:c.T2595C:p.S865S,NRP1:NM_001244972:exon17:c.T2577C:p.S859S,	NRP1:uc009xlz.3:exon17:c.T2577C:p.S859S,NRP1:uc001iww.4:exon16:c.T2031C:p.S677S,NRP1:uc001iwy.4:exon17:c.T2574C:p.S858S,NRP1:uc001iwx.4:exon17:c.T2595C:p.S865S,NRP1:uc001iwv.4:exon16:c.T2544C:p.S848S,	UNKNOWN	Het;A>G	1736;96|78	Hom;A>G	4008;1|145
N	N	-	10	33471761	33471765	GCACA	G	indel	intronic	 	 	 	 	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs751561998	0	0	0	1	0	0	intronic	intronic	intronic	NRP1	NRP1	ENSG00000099250	Na	Na	Na	Na	Na	Na	Het;-CACA	301;5|11	Hom;-CACA	585;0|15
N	N	-	10	33492093	33492093	A	G	snp	intronic	 	 	 	 	NRP1	Nrp1	ENSG00000099250	neuropilin 1	chr10:33466420-33625190	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]	cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular	Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning.	CHL1 interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS	GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRP1	https://www.uniprot.org/uniprot/O14786		https://www.ncbi.nlm.nih.gov/omim/?term=602069	http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1	rs2247715	0.517173	0	0	1	0	0	intronic	intronic	intronic	NRP1	NRP1	ENSG00000099250	Na	Na	Na	Na	Na	Na	Het;A>G	43;2|2	Hom;A>G	221;0|7
N	N	-	10	34420607	34420607	G	A	snp	intronic	 	 	 	 	PARD3	Pard3	ENSG00000148498	par-3 family cell polarity regulator	chr10:34398488-35104253	This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Alzheimer's disease ; Celiac Disease|; Acute lymphoblastic leukemia (childhood); Tobacco Use Disorder; Celiac Disease|Down Syndrome; Hip; breast cancer; Lymphoma, Non-Hodgkin; Leukemia, Lymphoid; Type 2 Diabetes| edema | rosiglitazone; cardiac stroke volume to regular exercise; Celiac Disease|Colitis, Ulcerative	Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development.	Tight junction interactions	GO:0006461;protein complex assembly;TAS|GO:0006612;protein targeting to membrane;IEA|GO:0007049;cell cycle;IEA|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;TAS|GO:0007409;axonogenesis;TAS|GO:0008356;asymmetric cell division;TAS|GO:0010801;negative regulation of peptidyl-threonine phosphorylation;ISS|GO:0022011;myelination in peripheral nervous system;ISS|GO:0030154;cell differentiation;IEA|GO:0031643;positive regulation of myelination;ISS|GO:0051301;cell division;IEA|GO:0060341;regulation of cellular localization;IEA|GO:0070830;bicellular tight junction assembly;TAS|GO:0090162;establishment of epithelial cell polarity;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005923;bicellular tight junction;IDA|GO:0005938;cell cortex;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;TAS|GO:0033269;internode region of axon;ISS|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA|GO:0044295;axonal growth cone;IEA	GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0008289;lipid binding;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARD3	https://www.uniprot.org/uniprot/Q8TEW0		https://www.ncbi.nlm.nih.gov/omim/?term=606745	http://www.informatics.jax.org/searchtool/Search.do?query=PARD3&submit=Quick%0D%9130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARD3	rs970166	0.152955	0	0	1	0	0	intronic	intronic	intronic	PARD3	PARD3	ENSG00000148498	Na	Na	Na	Na	Na	Na	Het;G>A	236;5|10	Hom;G>A	577;0|20
N	N	-	10	3460926	3460926	C	T	snp	ncRNA_intronic	 	 	 	 	BC037918																		rs2210964	0.765176	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	PITRM1(dist=245893),KLF6(dist=357262)	BC037918	ENSG00000227338(dist=151719),ENSG00000233321(dist=68160)	Na	Na	Na	Na	Na	Na	Het;C>T	150;8|8	Hom;C>T	517;0|18
N	N	-	10	3461010	3461010	T	A	snp	ncRNA_intronic	 	 	 	 	BC037918																		rs2210963	0.73103	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	PITRM1(dist=245977),KLF6(dist=357178)	BC037918	ENSG00000227338(dist=151803),ENSG00000233321(dist=68076)	Na	Na	Na	Na	Na	Na	Het;T>A	409;30|21	Hom;T>A	1670;0|67
N	N	-	10	35302705	35302705	C	T	snp	synonymous SNV	G1911A	S637S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs12830	0.283746	0.2825	0.3212	1	0	0	exonic	exonic	exonic	CUL2	CUL2	ENSG00000108094	synonymous SNV	synonymous SNV	unknown	CUL2:NM_001198778:exon19:c.G1968A:p.S656S,CUL2:NM_001198779:exon19:c.G1950A:p.S650S,CUL2:NM_001198777:exon19:c.G1911A:p.S637S,CUL2:NM_003591:exon19:c.G1911A:p.S637S,	CUL2:uc001ixw.3:exon19:c.G1911A:p.S637S,CUL2:uc009xma.3:exon20:c.G1518A:p.S506S,CUL2:uc021ppa.1:exon19:c.G1950A:p.S650S,CUL2:uc010qes.2:exon17:c.G1722A:p.S574S,CUL2:uc010qer.2:exon19:c.G1968A:p.S656S,CUL2:uc001ixv.3:exon19:c.G1911A:p.S637S,	UNKNOWN	Het;C>T	292;24|16	Hom;C>T	840;0|33
N	N	-	10	35320383	35320383	C	T	snp	intronic	 	 	 	 	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs3740083	0.332867	0.3361	0.3372	1	0	0	intronic	intronic	intronic	CUL2	CUL2	ENSG00000108094	Na	Na	Na	Na	Na	Na	Het;C>T	1065;40|45	Hom;C>T	2726;0|97
N	N	-	10	35321414	35321414	C	T	snp	synonymous SNV	G1119A	T373T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs16935840	0.149361	0.1267	0.1627	1	0	0	exonic	exonic	exonic	CUL2	CUL2	ENSG00000108094	synonymous SNV	synonymous SNV	unknown	CUL2:NM_001198778:exon12:c.G1176A:p.T392T,CUL2:NM_001198779:exon12:c.G1158A:p.T386T,CUL2:NM_001198777:exon12:c.G1119A:p.T373T,CUL2:NM_003591:exon12:c.G1119A:p.T373T,	CUL2:uc001ixw.3:exon12:c.G1119A:p.T373T,CUL2:uc009xma.3:exon13:c.G726A:p.T242T,CUL2:uc021ppa.1:exon12:c.G1158A:p.T386T,CUL2:uc010qes.2:exon10:c.G930A:p.T310T,CUL2:uc010qer.2:exon12:c.G1176A:p.T392T,CUL2:uc001ixv.3:exon12:c.G1119A:p.T373T,	UNKNOWN	Het;C>T	822;29|40	Hom;C>T	1124;0|43
N	N	-	10	35322024	35322024	G	A	snp	intronic	 	 	 	 	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs12261654	0.335663	0	0	1	0	0	intronic	intronic	intronic	CUL2	CUL2	ENSG00000108094	Na	Na	Na	Na	Na	Na	Het;G>A	161;11|7	Hom;G>A	110;0|4
N	N	-	10	35328088	35328088	A	G	snp	intronic	 	 	 	 	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs11010077	0.367812	0	0	1	0	0	intronic	intronic	intronic	CUL2	CUL2	ENSG00000108094	Na	Na	Na	Na	Na	Na	Het;A>G	74;5|4	Hom;A>G	170;0|6
N	N	-	10	35343197	35343197	C	CCT	indel	intronic	 	 	 	 	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs10671397	0.366613	0	0	1	0	0	intronic	intronic	intronic	CUL2	CUL2	ENSG00000108094	Na	Na	Na	Na	Na	Na	Het;+CT	86;1|3	Hom;+CT	143;0|4
N	N	-	10	35343525	35343525	G	A	snp	intronic	 	 	 	 	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs2384289	0.374002	0	0	1	0	0	intronic	intronic	intronic	CUL2	CUL2	ENSG00000108094	Na	Na	Na	Na	Na	Na	Het;G>A	812;27|34	Hom;G>A	1321;1|50
N	N	-	10	35360310	35360310	G	A	snp	intronic	 	 	 	 	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs4934711	0.342053	0	0.3452	1	0	0	intronic	intronic	intronic	CUL2	CUL2	ENSG00000108094	Na	Na	Na	Na	Na	Na	Het;G>A	292;45|20	Hom;G>A	2017;0|74
N	N	-	10	35362977	35362977	A	G	snp	intronic	 	 	 	 	CUL2	Cul2	ENSG00000108094	cullin 2	chr10:35297479-35379570		Anoxia|Microsatellite Instability|Neoplasms; cardiac stroke volume to regular exercise; Alzheimer's disease ; pheochromocytoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson Disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS	GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;TAS|GO:0030891;VCB complex;IEA|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL2	https://www.uniprot.org/uniprot/Q13617		https://www.ncbi.nlm.nih.gov/omim/?term=603135	http://www.informatics.jax.org/searchtool/Search.do?query=CUL2&submit=Quick%0D%3678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL2	rs12248333	0.365016	0	0.3661	1	0	0	intronic	intronic	intronic	CUL2	CUL2	ENSG00000108094	Na	Na	Na	Na	Na	Na	Het;A>G	181;14|10	Hom;A>G	983;2|35
N	N	-	10	35426755	35426755	A	G	snp	UTR5	-9A>G	 	 	 	CREM	Crem	ENSG00000095794	cAMP responsive element modulator	chr10:35415719-35501886	This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]	Azoospermia|Oligospermia; cardiac stroke volume to regular exercise; Alzheimer's disease ; Parkinson Disease; panic disorder; bronchodilator response	Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression.	BMAL1:CLOCK,NPAS2 activates circadian gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;NAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREM	https://www.uniprot.org/uniprot/Q03060		https://www.ncbi.nlm.nih.gov/omim/?term=123812	http://www.informatics.jax.org/searchtool/Search.do?query=CREM&submit=Quick%0D%93ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREM	rs17499247	0.335863	0.3377	0.3404	1	0	0	UTR5	UTR5	UTR5	CREM(NM_183013:c.-9A>G,NM_181571:c.-9A>G,NM_183012:c.-9A>G,NM_183011:c.-9A>G)	CREM(uc001iya.3:c.-9A>G,uc001iyb.3:c.-9A>G,uc001iyd.3:c.-9A>G,uc001iye.3:c.-9A>G)	ENSG00000095794(ENST00000374721:c.-10545A>G,ENST00000429130:c.-10545A>G,ENST00000354759:c.-9A>G,ENST00000427847:c.-9A>G,ENST00000395895:c.-9A>G,ENST00000345491:c.-9A>G,ENST00000439705:c.-9A>G,ENST00000333809:c.-9A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	510;14|26	Hom;A>G	1309;0|50
N	N	-	10	35437239	35437239	A	AT	indel	intronic	 	 	 	 	CREM	Crem	ENSG00000095794	cAMP responsive element modulator	chr10:35415719-35501886	This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]	Azoospermia|Oligospermia; cardiac stroke volume to regular exercise; Alzheimer's disease ; Parkinson Disease; panic disorder; bronchodilator response	Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression.	BMAL1:CLOCK,NPAS2 activates circadian gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;NAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREM	https://www.uniprot.org/uniprot/Q03060		https://www.ncbi.nlm.nih.gov/omim/?term=123812	http://www.informatics.jax.org/searchtool/Search.do?query=CREM&submit=Quick%0D%93ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREM	rs34879823	0.159744	0	0	1	0	0	intronic	intronic	intronic	CREM	CREM	ENSG00000095794	Na	Na	Na	Na	Na	Na	Het;+T	372;13|15	Hom;+T	994;2|33
N	N	-	10	35459976	35459976	G	A	snp	intronic	 	 	 	 	CREM	Crem	ENSG00000095794	cAMP responsive element modulator	chr10:35415719-35501886	This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]	Azoospermia|Oligospermia; cardiac stroke volume to regular exercise; Alzheimer's disease ; Parkinson Disease; panic disorder; bronchodilator response	Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression.	BMAL1:CLOCK,NPAS2 activates circadian gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;NAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREM	https://www.uniprot.org/uniprot/Q03060		https://www.ncbi.nlm.nih.gov/omim/?term=123812	http://www.informatics.jax.org/searchtool/Search.do?query=CREM&submit=Quick%0D%93ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREM	rs10508816	0.373403	0	0	1	0	0	intronic	intronic	intronic	CREM	CREM	ENSG00000095794	Na	Na	Na	Na	Na	Na	Het;G>A	320;15|15	Hom;G>A	681;0|24
N	N	-	10	35484949	35484949	T	G	snp	UTR5	-5459T>G	 	 	 	CREM	Crem	ENSG00000095794	cAMP responsive element modulator	chr10:35415719-35501886	This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]	Azoospermia|Oligospermia; cardiac stroke volume to regular exercise; Alzheimer's disease ; Parkinson Disease; panic disorder; bronchodilator response	Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression.	BMAL1:CLOCK,NPAS2 activates circadian gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;NAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREM	https://www.uniprot.org/uniprot/Q03060		https://www.ncbi.nlm.nih.gov/omim/?term=123812	http://www.informatics.jax.org/searchtool/Search.do?query=CREM&submit=Quick%0D%93ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREM	rs1057108	0.330671	0.3362	0.3393	1	0	0	UTR5	UTR5	UTR5	CREM(NM_182724:c.-42T>G,NM_182723:c.-5459T>G,NM_182721:c.-42T>G,NM_001267570:c.-42T>G)	CREM(uc001iyp.3:c.-5459T>G,uc031pud.1:c.-42T>G,uc001iyr.3:c.-42T>G,uc001iyt.3:c.-10888T>G,uc001iyq.3:c.-42T>G,uc001iys.3:c.-10888T>G)	ENSG00000095794(ENST00000488741:c.-5459T>G,ENST00000474931:c.-42T>G,ENST00000468236:c.-42T>G,ENST00000344351:c.-10888T>G,ENST00000490511:c.-42T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	2638;117|124	Hom;T>G	5334;0|200
N	N	-	10	35501231	35501232	TA	T	indel	UTR3	*905_*906delinsT	 	 	 	CREM	Crem	ENSG00000095794	cAMP responsive element modulator	chr10:35415719-35501886	This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]	Azoospermia|Oligospermia; cardiac stroke volume to regular exercise; Alzheimer's disease ; Parkinson Disease; panic disorder; bronchodilator response	Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression.	BMAL1:CLOCK,NPAS2 activates circadian gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;NAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREM	https://www.uniprot.org/uniprot/Q03060		https://www.ncbi.nlm.nih.gov/omim/?term=123812	http://www.informatics.jax.org/searchtool/Search.do?query=CREM&submit=Quick%0D%93ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREM	rs11289474	0.183906	0	0	1	0	0	UTR3	UTR3	UTR3	CREM(NM_183013:c.*905_*906delinsT,NM_001267563:c.*500_*501delinsT,NM_001267562:c.*500_*501delinsT,NM_183060:c.*500_*501delinsT,NM_181571:c.*500_*501delinsT,NM_183012:c.*905_*906delinsT,NM_183011:c.*905_*906delinsT,NM_001267564:c.*500_*501delinsT,NM_182772:c.*500_*501delinsT,NM_182771:c.*500_*501delinsT,NM_182770:c.*500_*501delinsT,NM_182769:c.*500_*501delinsT,NM_001267567:c.*500_*501delinsT,NM_182717:c.*905_*906delinsT,NM_182718:c.*500_*501delinsT,NM_182720:c.*905_*906delinsT,NM_182719:c.*500_*501delinsT,NM_182724:c.*500_*501delinsT,NM_182723:c.*905_*906delinsT,NM_182721:c.*905_*906delinsT,NM_001267570:c.*500_*501delinsT)	CREM(uc001iya.3:c.*905_*906delinsT,uc031ptu.1:c.*500_*501delinsT,uc031ptv.1:c.*905_*906delinsT,uc001ixz.3:c.*905_*906delinsT,uc001ixy.3:c.*500_*501delinsT,uc031ptw.1:c.*500_*501delinsT,uc001iyb.3:c.*500_*501delinsT,uc001iyc.3:c.*500_*501delinsT,uc001iyd.3:c.*905_*906delinsT,uc001iye.3:c.*905_*906delinsT,uc001iyg.3:c.*500_*501delinsT,uc031pty.1:c.*500_*501delinsT,uc001iyf.3:c.*500_*501delinsT,uc001iyi.3:c.*500_*501delinsT,uc031pua.1:c.*500_*501delinsT,uc001iyh.3:c.*500_*501delinsT,uc001iyk.3:c.*905_*906delinsT,uc001iyj.3:c.*500_*501delinsT,uc001iym.3:c.*905_*906delinsT,uc001iyl.3:c.*500_*501delinsT,uc001iyo.3:c.*905_*906delinsT,uc001iyn.3:c.*500_*501delinsT,uc001iyp.3:c.*905_*906delinsT,uc031pud.1:c.*500_*501delinsT,uc001iyr.3:c.*905_*906delinsT,uc001iyt.3:c.*905_*906delinsT,uc001iyq.3:c.*500_*501delinsT,uc001iys.3:c.*500_*501delinsT)	ENSG00000095794(ENST00000460270:c.*905_*906delinsT,ENST00000374728:c.*500_*501delinsT,ENST00000395895:c.*500_*501delinsT,ENST00000345491:c.*500_*501delinsT,ENST00000439705:c.*905_*906delinsT,ENST00000333809:c.*905_*906delinsT,ENST00000348787:c.*500_*501delinsT,ENST00000361599:c.*500_*501delinsT,ENST00000342105:c.*500_*501delinsT,ENST00000488328:c.*500_*501delinsT,ENST00000356917:c.*905_*906delinsT,ENST00000344351:c.*905_*906delinsT)	Na	Na	Na	Na	Na	Na	Het;-A	806;46|47	Hom;-A	2363;7|107
N	N	-	10	35501438	35501438	A	G	snp	UTR3	*707A>G	 	 	 	CREM	Crem	ENSG00000095794	cAMP responsive element modulator	chr10:35415719-35501886	This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]	Azoospermia|Oligospermia; cardiac stroke volume to regular exercise; Alzheimer's disease ; Parkinson Disease; panic disorder; bronchodilator response	Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression.	BMAL1:CLOCK,NPAS2 activates circadian gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042752;regulation of circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;NAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREM	https://www.uniprot.org/uniprot/Q03060		https://www.ncbi.nlm.nih.gov/omim/?term=123812	http://www.informatics.jax.org/searchtool/Search.do?query=CREM&submit=Quick%0D%93ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREM	rs2295415	0.207468	0	0	1	0	0	UTR3	UTR3	UTR3	CREM(NM_183013:c.*1112A>G,NM_001267563:c.*707A>G,NM_001267562:c.*707A>G,NM_183060:c.*707A>G,NM_181571:c.*707A>G,NM_183012:c.*1112A>G,NM_183011:c.*1112A>G,NM_001267564:c.*707A>G,NM_182772:c.*707A>G,NM_182771:c.*707A>G,NM_182770:c.*707A>G,NM_182769:c.*707A>G,NM_001267567:c.*707A>G,NM_182717:c.*1112A>G,NM_182718:c.*707A>G,NM_182720:c.*1112A>G,NM_182719:c.*707A>G,NM_182724:c.*707A>G,NM_182723:c.*1112A>G,NM_182721:c.*1112A>G,NM_001267570:c.*707A>G)	CREM(uc001iya.3:c.*1112A>G,uc031ptu.1:c.*707A>G,uc031ptv.1:c.*1112A>G,uc001ixz.3:c.*1112A>G,uc001ixy.3:c.*707A>G,uc031ptw.1:c.*707A>G,uc001iyb.3:c.*707A>G,uc001iyc.3:c.*707A>G,uc001iyd.3:c.*1112A>G,uc001iye.3:c.*1112A>G,uc001iyg.3:c.*707A>G,uc031pty.1:c.*707A>G,uc001iyf.3:c.*707A>G,uc001iyi.3:c.*707A>G,uc031pua.1:c.*707A>G,uc001iyh.3:c.*707A>G,uc001iyk.3:c.*1112A>G,uc001iyj.3:c.*707A>G,uc001iym.3:c.*1112A>G,uc001iyl.3:c.*707A>G,uc001iyo.3:c.*1112A>G,uc001iyn.3:c.*707A>G,uc001iyp.3:c.*1112A>G,uc031pud.1:c.*707A>G,uc001iyr.3:c.*1112A>G,uc001iyt.3:c.*1112A>G,uc001iyq.3:c.*707A>G,uc001iys.3:c.*707A>G)	ENSG00000095794(ENST00000374728:c.*707A>G,ENST00000395895:c.*707A>G,ENST00000345491:c.*707A>G,ENST00000439705:c.*1112A>G,ENST00000333809:c.*1112A>G,ENST00000348787:c.*707A>G,ENST00000361599:c.*707A>G,ENST00000356917:c.*1112A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1978;83|88	Hom;A>G	4160;0|143
N	N	-	10	35930412	35930412	C	CG	indel	upstream	 	 	 	 	FZD8	Fzd8	ENSG00000177283	frizzled class receptor 8	chr10:35927177-35930362	This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]	protein quantitative trait loci; Cleft Lip|Cleft Palate	Homozygous mutation of this gene does not appear to result in a phenotype.	RNF mutants show enhanced WNT signaling and proliferation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030182;neuron differentiation;ISS|GO:0033077;T cell differentiation in thymus;IEA|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060070;canonical Wnt signaling pathway;IMP	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:1990851;Wnt-Frizzled-LRP5/6 complex;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IEA|GO:0030165;PDZ domain binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042813;Wnt-activated receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FZD8			https://www.ncbi.nlm.nih.gov/omim/?term=606146	http://www.informatics.jax.org/searchtool/Search.do?query=FZD8&submit=Quick%0D%13999ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FZD8	rs142623421	0	0	0	1	0	0	upstream	upstream	upstream	FZD8,MIR4683	FZD8	ENSG00000177283,ENSG00000264780	Na	Na	Na	Na	Na	Na	Het;+G	286;14|16	Hom;+G	630;1|26
N	N	-	10	36088377	36088377	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01452																		rs765543	0.540735	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LINC01452	FW312330(dist=37125),ANKRD30A(dist=1326408)	ENSG00000226646(dist=101412),ENSG00000227313(dist=97425)	Na	Na	Na	Na	Na	Na	Het;A>C	1850;85|86	Hom;A>C	5345;1|189
N	N	-	10	36195566	36195566	G	A	snp	intergenic	 	 	 	 	AL365500.1																		rs2804806	0.64976	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01452(dist=105718),ANKRD30A(dist=1219219)	FW312330(dist=144314),ANKRD30A(dist=1219219)	ENSG00000227313(dist=7675),ENSG00000227475(dist=182448)	Na	Na	Na	Na	Na	Na	Het;G>A	69;2|3	Hom;G>A	246;0|10
N	N	-	10	3681159	3681159	T	C	snp	ncRNA_intronic	 	 	 	 	BC037918																		rs7920197	0.273163	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	PITRM1(dist=466126),KLF6(dist=137029)	BC037918	ENSG00000236892(dist=101936),ENSG00000229672(dist=112100)	Na	Na	Na	Na	Na	Na	Het;T>C	41;6|4	Hom;T>C	458;0|16
N	N	-	10	3819321	3819321	T	TA	indel	UTR3	*2410A>TA	 	 	 	KLF6	Klf6	ENSG00000067082	Kruppel like factor 6	chr10:3818188-3827473	This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]	Carcinoma, Hepatocellular|Fatty Liver|Liver Cirrhosis|Liver Neoplasms; Body Mass Index; Stroke; Creatinine; Echocardiography; prostate cancer prostatic hyperplasia; Triglycerides; Respiratory Function Tests; Intestinal Neoplasms|Stomach Neoplasms; Stomach Neoplasms; Coronary Artery Disease; Fibrinogen; Exercise Test; Glucose; Cholesterol, LDL; Heart Rate; Longevity; Body Height; lung cancer; diabetes, type 2; Cholesterol; Hemoglobins; Lupus Vulgaris; esophageal adenocarcinoma; prostate cancer; Alzheimer's disease ; Crohn Disease; Cholesterol, HDL; Arteries	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, small size, pallor, decreased cellular proliferation and delayed liver development. Mice heterozygous for a null allele exhibit delays in embryonic hematopoeisis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030183;B cell differentiation;NAS|GO:0045893;positive regulation of transcription, DNA-templated;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF6	https://www.uniprot.org/uniprot/Q99612	https://hpo.jax.org/app/browse/search?q=KLF6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602053	http://www.informatics.jax.org/searchtool/Search.do?query=KLF6&submit=Quick%0D%1241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF6	rs35557366	0.277356	0	0.3538	1	0	0	UTR3	UTR3	UTR3	KLF6(NM_001160124:c.*2410A>TA,NM_001160125:c.*2424A>TA,NM_001300:c.*2410A>TA)	KLF6(uc010qaj.2:c.*2424A>TA,uc001iha.3:c.*2410A>TA,uc010qal.2:c.*2410A>TA)	ENSG00000067082(ENST00000497571:c.*2410A>TA,ENST00000542957:c.*2424A>TA)	Na	Na	Na	Na	Na	Na	Het;+A	606;30|32	Hom;+A	1658;8|74
N	N	-	10	3819714	3819714	C	T	snp	UTR3	*2017G>A	 	 	 	KLF6	Klf6	ENSG00000067082	Kruppel like factor 6	chr10:3818188-3827473	This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]	Carcinoma, Hepatocellular|Fatty Liver|Liver Cirrhosis|Liver Neoplasms; Body Mass Index; Stroke; Creatinine; Echocardiography; prostate cancer prostatic hyperplasia; Triglycerides; Respiratory Function Tests; Intestinal Neoplasms|Stomach Neoplasms; Stomach Neoplasms; Coronary Artery Disease; Fibrinogen; Exercise Test; Glucose; Cholesterol, LDL; Heart Rate; Longevity; Body Height; lung cancer; diabetes, type 2; Cholesterol; Hemoglobins; Lupus Vulgaris; esophageal adenocarcinoma; prostate cancer; Alzheimer's disease ; Crohn Disease; Cholesterol, HDL; Arteries	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, small size, pallor, decreased cellular proliferation and delayed liver development. Mice heterozygous for a null allele exhibit delays in embryonic hematopoeisis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030183;B cell differentiation;NAS|GO:0045893;positive regulation of transcription, DNA-templated;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF6	https://www.uniprot.org/uniprot/Q99612	https://hpo.jax.org/app/browse/search?q=KLF6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602053	http://www.informatics.jax.org/searchtool/Search.do?query=KLF6&submit=Quick%0D%1241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF6	rs1043009	0.269169	0	0.3416	1	0	0	UTR3	UTR3	UTR3	KLF6(NM_001160124:c.*2017G>A,NM_001160125:c.*2031G>A,NM_001300:c.*2017G>A)	KLF6(uc010qaj.2:c.*2031G>A,uc001iha.3:c.*2017G>A,uc010qal.2:c.*2017G>A)	ENSG00000067082(ENST00000497571:c.*2017G>A,ENST00000542957:c.*2031G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1542;65|74	Hom;C>T	3249;2|120
N	N	-	10	3820787	3820787	T	C	snp	UTR3	*944A>G	 	 	 	KLF6	Klf6	ENSG00000067082	Kruppel like factor 6	chr10:3818188-3827473	This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]	Carcinoma, Hepatocellular|Fatty Liver|Liver Cirrhosis|Liver Neoplasms; Body Mass Index; Stroke; Creatinine; Echocardiography; prostate cancer prostatic hyperplasia; Triglycerides; Respiratory Function Tests; Intestinal Neoplasms|Stomach Neoplasms; Stomach Neoplasms; Coronary Artery Disease; Fibrinogen; Exercise Test; Glucose; Cholesterol, LDL; Heart Rate; Longevity; Body Height; lung cancer; diabetes, type 2; Cholesterol; Hemoglobins; Lupus Vulgaris; esophageal adenocarcinoma; prostate cancer; Alzheimer's disease ; Crohn Disease; Cholesterol, HDL; Arteries	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, small size, pallor, decreased cellular proliferation and delayed liver development. Mice heterozygous for a null allele exhibit delays in embryonic hematopoeisis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030183;B cell differentiation;NAS|GO:0045893;positive regulation of transcription, DNA-templated;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF6	https://www.uniprot.org/uniprot/Q99612	https://hpo.jax.org/app/browse/search?q=KLF6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602053	http://www.informatics.jax.org/searchtool/Search.do?query=KLF6&submit=Quick%0D%1241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF6	rs1043003	0.274361	0	0.3527	1	0	0	UTR3	UTR3	UTR3	KLF6(NM_001160124:c.*944A>G,NM_001160125:c.*958A>G,NM_001300:c.*944A>G)	KLF6(uc010qaj.2:c.*958A>G,uc001iha.3:c.*944A>G,uc010qal.2:c.*944A>G)	ENSG00000067082(ENST00000497571:c.*944A>G,ENST00000542957:c.*958A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1664;73|76	Hom;T>C	3863;0|141
N	N	-	10	3821561	3821561	G	A	snp	UTR3	*170C>T	 	 	 	KLF6	Klf6	ENSG00000067082	Kruppel like factor 6	chr10:3818188-3827473	This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]	Carcinoma, Hepatocellular|Fatty Liver|Liver Cirrhosis|Liver Neoplasms; Body Mass Index; Stroke; Creatinine; Echocardiography; prostate cancer prostatic hyperplasia; Triglycerides; Respiratory Function Tests; Intestinal Neoplasms|Stomach Neoplasms; Stomach Neoplasms; Coronary Artery Disease; Fibrinogen; Exercise Test; Glucose; Cholesterol, LDL; Heart Rate; Longevity; Body Height; lung cancer; diabetes, type 2; Cholesterol; Hemoglobins; Lupus Vulgaris; esophageal adenocarcinoma; prostate cancer; Alzheimer's disease ; Crohn Disease; Cholesterol, HDL; Arteries	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, small size, pallor, decreased cellular proliferation and delayed liver development. Mice heterozygous for a null allele exhibit delays in embryonic hematopoeisis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030183;B cell differentiation;NAS|GO:0045893;positive regulation of transcription, DNA-templated;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF6	https://www.uniprot.org/uniprot/Q99612	https://hpo.jax.org/app/browse/search?q=KLF6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602053	http://www.informatics.jax.org/searchtool/Search.do?query=KLF6&submit=Quick%0D%1241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF6	rs17731	0.270567	0	0.3662	1	0	0	UTR3	UTR3	UTR3	KLF6(NM_001160124:c.*170C>T,NM_001160125:c.*184C>T,NM_001300:c.*170C>T)	KLF6(uc010qaj.2:c.*184C>T,uc001iha.3:c.*170C>T,uc010qal.2:c.*170C>T)	ENSG00000067082(ENST00000497571:c.*170C>T,ENST00000542957:c.*184C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	2331;89|110	Hom;G>A	4654;0|169
N	N	-	10	38383525	38383525	C	T	snp	intronic	 	 	 	 	ZNF37A	 	ENSG00000075407	zinc finger protein 37A	chr10:38383264-38414472		Cholesterol, LDL; Cholesterol	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF37A	https://www.uniprot.org/uniprot/P17032		https://www.ncbi.nlm.nih.gov/omim/?term=616085	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF37A&submit=Quick%0D%1545ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF37A	rs2504144	0.703674	0	0	1	0	0	intronic	intronic	intronic	ZNF37A	ZNF37A	ENSG00000075407	Na	Na	Na	Na	Na	Na	Het;C>T	188;6|9	Hom;C>T	286;0|11
N	N	-	10	38939687	38939687	G	A	snp	ncRNA_intronic	 	 	 	 	SLC9B1P3																		rs4450108	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00999(dist=198606),ACTR3BP5(dist=50040)	LOC399744(dist=198606),ACTR3BP5(dist=50040)	ENSG00000233867	Na	Na	Na	Na	Na	Na	Het;G>A	166;1|5	Hom;G>A	113;0|4
N	N	-	10	3926920	3926920	G	A	snp	intergenic	 	 	 	 	AL513303.2																		rs12771235	0.616414	0	0	1	0	0	intergenic	intergenic	intergenic	KLF6(dist=99447),MIR6078(dist=106432)	KLF6(dist=99447),AK055803(dist=166998)	ENSG00000230573(dist=50000),ENSG00000226005(dist=49791)	Na	Na	Na	Na	Na	Na	Het;G>A	891;80|52	Hom;G>A	2353;0|91
N	N	-	10	3926955	3926955	A	G	snp	intergenic	 	 	 	 	AL513303.2																		rs67976003	0.183706	0	0	1	0	0	intergenic	intergenic	intergenic	KLF6(dist=99482),MIR6078(dist=106397)	KLF6(dist=99482),AK055803(dist=166963)	ENSG00000230573(dist=50035),ENSG00000226005(dist=49756)	Na	Na	Na	Na	Na	Na	Het;A>G	639;69|38	Hom;A>G	2607;0|71
N	N	-	10	42385236	42385236	A	T	snp	intergenic	 	 	 	 	NONE																		rs9663102	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC441666(dist=442078)	NONE(dist=NONE),LOC441666(dist=442078)	NONE(dist=NONE),ENSG00000229485(dist=259522)	Na	Na	Na	Na	Na	Na	Het;A>T	1950;25|70	Hom;A>T	6155;5|154
N	N	-	10	42599664	42599664	C	T	snp	intergenic	 	 	 	 	NONE																		rs1134535	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC441666(dist=227650)	NONE(dist=NONE),LOC441666(dist=227650)	NONE(dist=NONE),ENSG00000229485(dist=45094)	Na	Na	Na	Na	Na	Na	Het;C>T	3769;11|96	Hom;C>T	6447;2|163
N	N	-	10	42599702	42599702	T	A	snp	intergenic	 	 	 	 	NONE																		rs57946756	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC441666(dist=227612)	NONE(dist=NONE),LOC441666(dist=227612)	NONE(dist=NONE),ENSG00000229485(dist=45056)	Na	Na	Na	Na	Na	Na	Het;T>A	3164;13|81	Hom;T>A	5243;10|134
N	N	-	10	42599717	42599717	T	A	snp	intergenic	 	 	 	 	NONE																		rs7478278	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC441666(dist=227597)	NONE(dist=NONE),LOC441666(dist=227597)	NONE(dist=NONE),ENSG00000229485(dist=45041)	Na	Na	Na	Na	Na	Na	Het;T>A	3031;10|72	Hom;T>A	5385;6|121
N	N	-	10	42599860	42599860	C	A	snp	intergenic	 	 	 	 	NONE																		rs79378267	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC441666(dist=227454)	NONE(dist=NONE),LOC441666(dist=227454)	NONE(dist=NONE),ENSG00000229485(dist=44898)	Na	Na	Na	Na	Na	Na	Het;C>A	857;7|27	Hom;C>A	1544;16|52
N	N	-	10	4285906	4285906	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00702																		rs10795144	0.717053	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_exonic	LINC00702	AK055803(dist=154701),AK095699(dist=140532)	ENSG00000233117	Na	Na	Na	Na	Na	Na	Het;T>C	748;23|34	Hom;T>C	2070;0|66
N	N	-	10	43368625	43368625	G	A	snp	ncRNA_exonic	 	 	 	 	AL365199.1																		rs2051042	0.327476	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BMS1(dist=38240),LINC01264(dist=105840)	BMS1(dist=38240),MIR5100(dist=124386)	ENSG00000234944	Na	Na	Na	Na	Na	Na	Het;G>A	1626;59|72	Hom;G>A	3001;0|105
N	N	-	10	43369352	43369352	A	G	snp	ncRNA_exonic	 	 	 	 	AL365199.1																		rs2744073	0.372005	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BMS1(dist=38967),LINC01264(dist=105113)	BMS1(dist=38967),MIR5100(dist=123659)	ENSG00000234944	Na	Na	Na	Na	Na	Na	Het;A>G	1376;37|54	Hom;A>G	2820;0|96
N	N	-	10	43611865	43611865	T	C	snp	intronic	 	 	 	 	RET	Ret	ENSG00000165731	ret proto-oncogene	chr10:43572475-43625799	This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]	Vesico-Ureteral Reflux; Cleft Lip|Cleft Palate; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; esophageal adenocarcinoma; C-cell hyperplasia; Down Syndrome|Hirschsprung Disease|Nondisjunction, Genetic; Urogenital Abnormalities|Vesico-Ureteral Reflux; Carcinoma, Medullary|Thyroid Neoplasms; pheochtomocytomas; null; sporadic pheochromocytoma; Digestive System Abnormalities|Hirschsprung Disease; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; medullary sponge kidney disease; Adrenal Gland Neoplasms|Adrenal Neoplasm|Carcinoma, Medullary|Medullary carcinoma|Multiple Endocrine Neoplasia Type 2a|Pheochromocytoma|thyroid neoplasm|Thyroid Neoplasms; thyroid cancer; Sleep Apnea, Obstructive; Tobacco Use Disorder; Schizophrenia; Carcinoma, Medullary|Lymphatic Metastasis|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; Alzheimer's disease ; lung cancer; Multiple Endocrine Neoplasia Type 2b; Carcinoma, Medullary|Lymphatic Metastasis|Multiple Endocrine Neoplasia Type 2a|Thyroid Neoplasms; pheochromocytoma; Pancreatic Neoplasms; Hirschsprung's disease intestinal neuronal dysplasia; thyroid cancer; thyroid carcinoma, sporadic medullary; papillary thyroid cancer; Adrenal Gland Neoplasms|Adrenal Neoplasm|Neoplasms, Multiple Primary|Paraganglioma|Pheochromocytoma; multiple endocrine neoplasia type 2A; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; bladder cancer; Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma; Carcinoma, Medullary|Neoplasm Metastasis|Thyroid Neoplasms; Head and Neck Neoplasms|Multiple Endocrine Neoplasia Type 2a|Paraganglioma|von Hippel-Lindau Disease; thyroid cancer; Hirschsprung's disease; cutaneous lichen amyloidosis.; Parkinson's disease ; Carcinoma, Medullary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; Idiopathic slow-transit constipation; multiple Endocrine Neoplasia Type 2; Carcinoma, Medullary|Hyperplasia|Thyroid Neoplasms; Adrenal Gland Neoplasms|Pheochromocytoma; normal variation; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Carcinoma, Medullary|Medullary carcinoma|Multiple Endocrine Neoplasia Type 2a|thyroid neoplasm|Thyroid Neoplasms; lung cancer ; Hirschsprung Disease; Adrenal Gland Neoplasms|Head and Neck Neoplasms|Paraganglioma|Pheochromocytoma; Adrenal Gland Neoplasms|Paraganglioma|Pheochromocytoma; Carcinoma, Papillary|Recurrence|Thyroid Neoplasms; Carcinoma, Medullary|Multiple Endocrine Neoplasia Type 2a|Thyroid Neoplasms; chronic obstructive pulmonary disease; SIDS/sudden infant death syndrome; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; Hirschsprung Disease|Hydronephrosis|Vesico-Ureteral Reflux; Kidney Diseases|Vitamin A Deficiency; ovarian cancer; thyroid cancer; pheochromocytoma; Thyroid Neoplasms; Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 2a|Paraganglioma|Pheochromocytoma|von Hippel-Lindau Disease; germline mutations; multiple endocrine neoplasia; hereditary medullary thyroid carcinoma; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; Head and Neck Neoplasms|Paraganglioma; Carcinoma, Medullary|Neoplasm Recurrence, Local|Thyroid Neoplasms; Hirschsprung's disease; Congenital Megacolon|Hirschsprung Disease; Hirschsprung disease	Mice homozygous for some point mutations or knock-out alleles exhibit premature lethality, defects in neurogenesis, and abnormal kidney, ureter, ovary, muscle, and intestine morphology.	RET signaling	GO:0000165;MAPK cascade;TAS|GO:0001657;ureteric bud development;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001838;embryonic epithelial tube formation;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007158;neuron cell-cell adhesion;IMP|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;TAS|GO:0007497;posterior midgut development;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IMP|GO:0014042;positive regulation of neuron maturation;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030155;regulation of cell adhesion;IDA|GO:0030182;neuron differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0033619;membrane protein proteolysis;IDA|GO:0033630;positive regulation of cell adhesion mediated by integrin;IDA|GO:0035799;ureter maturation;IEA|GO:0042493;response to drug;IEA|GO:0042551;neuron maturation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045793;positive regulation of cell size;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048265;response to pain;ISS|GO:0048484;enteric nervous system development;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060384;innervation;IEA|GO:0061146;Peyer's patch morphogenesis;ISS|GO:0071300;cellular response to retinoic acid;IMP|GO:0072300;positive regulation of metanephric glomerulus development;ISS|GO:0097021;lymphocyte migration into lymphoid organs;ISS|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IEA|GO:0098797;plasma membrane protein complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0004872;receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RET		https://hpo.jax.org/app/browse/search?q=RET&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164761	http://www.informatics.jax.org/searchtool/Search.do?query=RET&submit=Quick%0D%11614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RET	rs2256550	0.469449	0	0	1	0	0	intronic	intronic	intronic	RET	RET	ENSG00000165731	Na	Na	Na	Na	Na	Na	Het;T>C	40;2|2	Hom;T>C	160;0|7
N	N	-	10	43671378	43671379	GT	G	indel	intronic	 	 	 	 	CSGALNACT2	Csgalnact2	ENSG00000169826	chondroitin sulfate N-acetylgalactosaminyltransferase 2	chr10:43633934-43680756	This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]	Alzheimer's disease ; Hirschsprung's disease; Monocytes	 	Chondroitin sulfate biosynthesis	GO:0030166;proteoglycan biosynthetic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0050650;chondroitin sulfate proteoglycan biosynthetic process;IDA|GO:0050651;dermatan sulfate proteoglycan biosynthetic process;IDA|GO:0050652;dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process;TAS|GO:0050653;chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;NAS|GO:0032580;Golgi cisterna membrane;IEA	GO:0005515;protein binding;IPI|GO:0008376;acetylgalactosaminyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047237;glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;IEA|GO:0047238;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CSGALNACT2			https://www.ncbi.nlm.nih.gov/omim/?term=616616	http://www.informatics.jax.org/searchtool/Search.do?query=CSGALNACT2&submit=Quick%0D%12572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSGALNACT2	rs398013310	0.647364	0	0.6787	1	0	0	intronic	intronic	intronic	CSGALNACT2	CSGALNACT2	ENSG00000169826	Na	Na	Na	Na	Na	Na	Het;-T	793;12|49	Hom;-T	907;4|47
N	N	-	10	4433913	4433913	C	T	snp	ncRNA_intronic	 	 	 	 	AK095699																		rs1468066	0.242412	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00703	AK095699	ENSG00000224382	Na	Na	Na	Na	Na	Na	Het;C>T	846;68|44	Hom;C>T	1271;0|48
N	N	-	10	44721411	44721411	G	A	snp	intergenic	 	 	 	 	ENSG00000238957																		rs11597129	0.45028	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00841(dist=256056),C10orf142(dist=66787)	LINC00841(dist=256056),LOC100130539(dist=66787)	ENSG00000238957(dist=191352),ENSG00000237590(dist=33639)	Na	Na	Na	Na	Na	Na	Het;G>A	334;45|20	Hom;G>A	906;0|36
N	N	-	10	44840969	44840969	G	C	snp	intronic	 	 	 	 	CXCL12	Cxcl12	ENSG00000107562	C-X-C motif chemokine ligand 12	chr10:44793038-44881941	This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]	increased perinatal immunodeficiency virus type 1 transmission; Leukemia, Lymphocytic, Chronic, B-Cell; pelvic inflammatory disease; coronary disease; hematopoietic progenitor cells, mobilization of; prostate cancer; Asthma|Bronchial Hyperreactivity; Migraine Disorders; HIV infection; normal variation; Ovarian Failure, Premature; systemic lupus erythematosus; human T lymphotropic virus type I infection; HIV leukoencephalopathy; Waldenstrom Macroglobulinemia; hepatitis C; Scleroderma, Systemic|Skin Ulcer; Alzheimer's disease ; HIV Infections|Sexually Transmitted Diseases; Chronic renal failure|Kidney Failure, Chronic; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Alzheimer's disease; multiple sclerosis; HIV; diabetes, type 1; thyroid disease, autoimmune; liver cancer liver disease; Acquired Immunodeficiency Syndrome; atherosclerosis; lung cancer; liver transplantation, immunosuppression after; HIV; myocardial infarction; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; Tunica Media; myocardial infarction (early onset); leukemia, myeloid; Coronary Disease|Coronary heart disease|Myocardial Infarction; Chlamydia Infections|Inflammation|Trachoma; Neoplasms; Brain Ischemia|Inflammation|Stroke; null; Hepatitis B; breast cancer; hypertension; Lymphoma, Large B-Cell, Diffuse; HIV; HIV disease progression; head and neck cancer; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis|Liver Neoplasms; myocardial infarction; Atherosclerosis|Carotid Stenosis; breast cancer ; atherosclerosis, coronary; HIV Infections|Substance Abuse, Intravenous|[X]Human immunodeficiency virus disease; Type 2 diabetes; Coronary Artery Disease; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; HIV Infections|Tuberculosis; laryngeal Cancer; Brain Ischemia|Hypertension|Osteoporosis|Stroke; HIV Infections|[X]Human immunodeficiency virus disease; Carcinoma|Neoplasm Invasiveness|Uterine Cervical Neoplasms; HIV Infections|Pregnancy Complications, Infectious|Viremia|[X]Human immunodeficiency virus disease; HIV infection; hepatitis C infection; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; stromal derived factor; Coronary Artery Disease|Inflammation; proliferative diabetic retinopathy; HIV disease progression; Carcinoma, Hepatocellular|Liver Neoplasms; colorectal cancer; lymphoma; diabetes, type 1; Recurrence|Venous Thromboembolism; multiple Sclerosis; Acquired Immunodeficiency Syndrome|; HIV; AIDS; Apoplexy|Myocardial Infarction|Stroke; HIV Infections; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Carcinoma, Squamous Cell|Mouth Neoplasms; heart disease; Carcinoma, Squamous Cell|Lymphatic Metastasis|Mouth Neoplasms; Inflammation|Venous Thromboembolism	Homozygous null mice display late embryonic lethality, impaired myelopoiesis, abnormal cerebellum development, abnormal germ cell migration, abnormal angiogenesis around the stomach, and ventricular septal defects.	G alpha (i) signalling events	GO:0001666;response to hypoxia;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0006874;cellular calcium ion homeostasis;TAS|GO:0006935;chemotaxis;TAS|GO:0006952;defense response;IEA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007411;axon guidance;IBA|GO:0007420;brain development;IEA|GO:0008015;blood circulation;TAS|GO:0008064;regulation of actin polymerization or depolymerization;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009314;response to radiation;IEA|GO:0009408;response to heat;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;TAS|GO:0022029;telencephalon cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031100;animal organ regeneration;IEA|GO:0033603;positive regulation of dopamine secretion;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045785;positive regulation of cell adhesion;IDA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0050918;positive chemotaxis;IEA|GO:0050930;induction of positive chemotaxis;IBA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060326;cell chemotaxis;IDA|GO:0070098;chemokine-mediated signaling pathway;IDA|GO:0090026;positive regulation of monocyte chemotaxis;IDA|GO:0090280;positive regulation of calcium ion import;TAS|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IDA|GO:1903237;negative regulation of leukocyte tethering or rolling;IDA|GO:1990478;response to ultrasound;IEA|GO:2000107;negative regulation of leukocyte apoptotic process;IDA|GO:2000406;positive regulation of T cell migration;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;IDA|GO:0008083;growth factor activity;IEA|GO:0042056;chemoattractant activity;IBA|GO:0042379;chemokine receptor binding;IMP|GO:0045236;CXCR chemokine receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CXCL12	https://www.uniprot.org/uniprot/P48061		https://www.ncbi.nlm.nih.gov/omim/?term=600835	http://www.informatics.jax.org/searchtool/Search.do?query=CXCL12&submit=Quick%0D%3616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL12	rs9663658	0.307109	0	0	1	0	0	intergenic	intergenic	intronic	C10orf142(dist=50872),CXCL12(dist=24632)	LOC100130539(dist=50872),CXCL12(dist=24632)	ENSG00000107562	Na	Na	Na	Na	Na	Na	Het;G>C	80;4|5	Hom;G>C	204;0|9
N	N	-	10	44868856	44868856	A	C	snp	intronic	 	 	 	 	CXCL12	Cxcl12	ENSG00000107562	C-X-C motif chemokine ligand 12	chr10:44793038-44881941	This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]	increased perinatal immunodeficiency virus type 1 transmission; Leukemia, Lymphocytic, Chronic, B-Cell; pelvic inflammatory disease; coronary disease; hematopoietic progenitor cells, mobilization of; prostate cancer; Asthma|Bronchial Hyperreactivity; Migraine Disorders; HIV infection; normal variation; Ovarian Failure, Premature; systemic lupus erythematosus; human T lymphotropic virus type I infection; HIV leukoencephalopathy; Waldenstrom Macroglobulinemia; hepatitis C; Scleroderma, Systemic|Skin Ulcer; Alzheimer's disease ; HIV Infections|Sexually Transmitted Diseases; Chronic renal failure|Kidney Failure, Chronic; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Alzheimer's disease; multiple sclerosis; HIV; diabetes, type 1; thyroid disease, autoimmune; liver cancer liver disease; Acquired Immunodeficiency Syndrome; atherosclerosis; lung cancer; liver transplantation, immunosuppression after; HIV; myocardial infarction; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; Tunica Media; myocardial infarction (early onset); leukemia, myeloid; Coronary Disease|Coronary heart disease|Myocardial Infarction; Chlamydia Infections|Inflammation|Trachoma; Neoplasms; Brain Ischemia|Inflammation|Stroke; null; Hepatitis B; breast cancer; hypertension; Lymphoma, Large B-Cell, Diffuse; HIV; HIV disease progression; head and neck cancer; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis|Liver Neoplasms; myocardial infarction; Atherosclerosis|Carotid Stenosis; breast cancer ; atherosclerosis, coronary; HIV Infections|Substance Abuse, Intravenous|[X]Human immunodeficiency virus disease; Type 2 diabetes; Coronary Artery Disease; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; HIV Infections|Tuberculosis; laryngeal Cancer; Brain Ischemia|Hypertension|Osteoporosis|Stroke; HIV Infections|[X]Human immunodeficiency virus disease; Carcinoma|Neoplasm Invasiveness|Uterine Cervical Neoplasms; HIV Infections|Pregnancy Complications, Infectious|Viremia|[X]Human immunodeficiency virus disease; HIV infection; hepatitis C infection; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; stromal derived factor; Coronary Artery Disease|Inflammation; proliferative diabetic retinopathy; HIV disease progression; Carcinoma, Hepatocellular|Liver Neoplasms; colorectal cancer; lymphoma; diabetes, type 1; Recurrence|Venous Thromboembolism; multiple Sclerosis; Acquired Immunodeficiency Syndrome|; HIV; AIDS; Apoplexy|Myocardial Infarction|Stroke; HIV Infections; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Carcinoma, Squamous Cell|Mouth Neoplasms; heart disease; Carcinoma, Squamous Cell|Lymphatic Metastasis|Mouth Neoplasms; Inflammation|Venous Thromboembolism	Homozygous null mice display late embryonic lethality, impaired myelopoiesis, abnormal cerebellum development, abnormal germ cell migration, abnormal angiogenesis around the stomach, and ventricular septal defects.	G alpha (i) signalling events	GO:0001666;response to hypoxia;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0006874;cellular calcium ion homeostasis;TAS|GO:0006935;chemotaxis;TAS|GO:0006952;defense response;IEA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007411;axon guidance;IBA|GO:0007420;brain development;IEA|GO:0008015;blood circulation;TAS|GO:0008064;regulation of actin polymerization or depolymerization;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009314;response to radiation;IEA|GO:0009408;response to heat;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;TAS|GO:0022029;telencephalon cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031100;animal organ regeneration;IEA|GO:0033603;positive regulation of dopamine secretion;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045785;positive regulation of cell adhesion;IDA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0050918;positive chemotaxis;IEA|GO:0050930;induction of positive chemotaxis;IBA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060326;cell chemotaxis;IDA|GO:0070098;chemokine-mediated signaling pathway;IDA|GO:0090026;positive regulation of monocyte chemotaxis;IDA|GO:0090280;positive regulation of calcium ion import;TAS|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IDA|GO:1903237;negative regulation of leukocyte tethering or rolling;IDA|GO:1990478;response to ultrasound;IEA|GO:2000107;negative regulation of leukocyte apoptotic process;IDA|GO:2000406;positive regulation of T cell migration;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;IDA|GO:0008083;growth factor activity;IEA|GO:0042056;chemoattractant activity;IBA|GO:0042379;chemokine receptor binding;IMP|GO:0045236;CXCR chemokine receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CXCL12	https://www.uniprot.org/uniprot/P48061		https://www.ncbi.nlm.nih.gov/omim/?term=600835	http://www.informatics.jax.org/searchtool/Search.do?query=CXCL12&submit=Quick%0D%3616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL12	rs266091	0.834265	0.8189	0	1	0	0	intronic	intronic	intronic	CXCL12	CXCL12	ENSG00000107562	Na	Na	Na	Na	Na	Na	Het;A>C	519;29|26	Hom;A>C	1121;0|39
N	N	-	10	45652086	45652086	T	TA	indel	ncRNA_intronic	 	 	 	 	ANKRD30BP3																		rs34397404	0.686701	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ANKRD30BP3	ANKRD30BP3	ENSG00000243349	Na	Na	Na	Na	Na	Na	Het;+A	257;4|14	Hom;+A	333;2|16
N	N	-	10	45924023	45924023	G	A	snp	intronic	 	 	 	 	ALOX5	Alox5	ENSG00000275565	arachidonate 5-lipoxygenase	chr10:45869661-45941561	This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	colorectal cancer; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chronic renal failure|Kidney Failure, Chronic; stroke; Tuberculosis, Pulmonary; atherosclerosis; bladder cancer; asthma, aspirin-induced; urticaria, aspirin-intolerant; colon polyps; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Kidney Diseases; Blood Pressure; asthma; folate; hyperhomocystinemia; chronic obstructive pulmonary disease; prostate cancer; vascular disease; Meningeal Neoplasms|meningioma; Alzheimer's disease; Kidney Failure, Chronic; Atherosclerosis|Myocardial Infarction; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Acute Coronary Syndrome|; hypertension; normal variation; lung cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lung cancer ; null; Atherosclerosis; Cerebrovascular Disorders; esophageal adenocarcinoma; Asthma drug response; Rhinitis|Sinusitis; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Myocardial Infarction; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Carotid Artery Diseases; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; E-Selectin; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; myocardial infarct; Coronary Artery Disease; asthma; Multiple Sclerosis, Relapsing-Remitting; Glioblastoma|Glioma	Nullizygous mice show altered inflammatory responses. One null mutation causes resistance to lethal anaphylaxis, abnormal eicosanoid production and neutrophil recruitment while another leads to increased body fat, bone density, leptin and VLDL cholesterol levels and resistance to autoimmune uveitis.	Neutrophil degranulation	GO:0006691;leukotriene metabolic process;TAS|GO:0019370;leukotriene biosynthetic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:2001300;lipoxin metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005641;nuclear envelope lumen;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IDA|GO:0031965;nuclear membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004051;arachidonate 5-lipoxygenase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALOX5	https://www.uniprot.org/uniprot/P09917		https://www.ncbi.nlm.nih.gov/omim/?term=152390	http://www.informatics.jax.org/searchtool/Search.do?query=ALOX5&submit=Quick%0D%21384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOX5	rs1565096	0.791733	0.8006	0.7651	1	0	0	intronic	intronic	intronic	ALOX5	ALOX5	ENSG00000012779	Na	Na	Na	Na	Na	Na	Het;G>A	317;11|13	Hom;G>A	676;0|23
N	N	-	10	45924256	45924256	T	C	snp	intronic	 	 	 	 	ALOX5	Alox5	ENSG00000275565	arachidonate 5-lipoxygenase	chr10:45869661-45941561	This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	colorectal cancer; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chronic renal failure|Kidney Failure, Chronic; stroke; Tuberculosis, Pulmonary; atherosclerosis; bladder cancer; asthma, aspirin-induced; urticaria, aspirin-intolerant; colon polyps; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Kidney Diseases; Blood Pressure; asthma; folate; hyperhomocystinemia; chronic obstructive pulmonary disease; prostate cancer; vascular disease; Meningeal Neoplasms|meningioma; Alzheimer's disease; Kidney Failure, Chronic; Atherosclerosis|Myocardial Infarction; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Acute Coronary Syndrome|; hypertension; normal variation; lung cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lung cancer ; null; Atherosclerosis; Cerebrovascular Disorders; esophageal adenocarcinoma; Asthma drug response; Rhinitis|Sinusitis; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Myocardial Infarction; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Carotid Artery Diseases; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; E-Selectin; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; myocardial infarct; Coronary Artery Disease; asthma; Multiple Sclerosis, Relapsing-Remitting; Glioblastoma|Glioma	Nullizygous mice show altered inflammatory responses. One null mutation causes resistance to lethal anaphylaxis, abnormal eicosanoid production and neutrophil recruitment while another leads to increased body fat, bone density, leptin and VLDL cholesterol levels and resistance to autoimmune uveitis.	Neutrophil degranulation	GO:0006691;leukotriene metabolic process;TAS|GO:0019370;leukotriene biosynthetic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:2001300;lipoxin metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005641;nuclear envelope lumen;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IDA|GO:0031965;nuclear membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004051;arachidonate 5-lipoxygenase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALOX5	https://www.uniprot.org/uniprot/P09917		https://www.ncbi.nlm.nih.gov/omim/?term=152390	http://www.informatics.jax.org/searchtool/Search.do?query=ALOX5&submit=Quick%0D%21384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOX5	rs1565097	0.746206	0.7526	0.7479	1	0	0	intronic	intronic	intronic	ALOX5	ALOX5	ENSG00000012779	Na	Na	Na	Na	Na	Na	Het;T>C	665;20|29	Hom;T>C	1188;0|43
N	N	-	10	45939136	45939136	T	C	snp	intronic	 	 	 	 	ALOX5	Alox5	ENSG00000275565	arachidonate 5-lipoxygenase	chr10:45869661-45941561	This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	colorectal cancer; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chronic renal failure|Kidney Failure, Chronic; stroke; Tuberculosis, Pulmonary; atherosclerosis; bladder cancer; asthma, aspirin-induced; urticaria, aspirin-intolerant; colon polyps; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Kidney Diseases; Blood Pressure; asthma; folate; hyperhomocystinemia; chronic obstructive pulmonary disease; prostate cancer; vascular disease; Meningeal Neoplasms|meningioma; Alzheimer's disease; Kidney Failure, Chronic; Atherosclerosis|Myocardial Infarction; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Acute Coronary Syndrome|; hypertension; normal variation; lung cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lung cancer ; null; Atherosclerosis; Cerebrovascular Disorders; esophageal adenocarcinoma; Asthma drug response; Rhinitis|Sinusitis; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Myocardial Infarction; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Carotid Artery Diseases; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; E-Selectin; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; myocardial infarct; Coronary Artery Disease; asthma; Multiple Sclerosis, Relapsing-Remitting; Glioblastoma|Glioma	Nullizygous mice show altered inflammatory responses. One null mutation causes resistance to lethal anaphylaxis, abnormal eicosanoid production and neutrophil recruitment while another leads to increased body fat, bone density, leptin and VLDL cholesterol levels and resistance to autoimmune uveitis.	Neutrophil degranulation	GO:0006691;leukotriene metabolic process;TAS|GO:0019370;leukotriene biosynthetic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:2001300;lipoxin metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005641;nuclear envelope lumen;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IDA|GO:0031965;nuclear membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004051;arachidonate 5-lipoxygenase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALOX5	https://www.uniprot.org/uniprot/P09917		https://www.ncbi.nlm.nih.gov/omim/?term=152390	http://www.informatics.jax.org/searchtool/Search.do?query=ALOX5&submit=Quick%0D%21384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOX5	rs7900977	0.786542	0.7943	0.7620	1	0	0	intronic	intronic	intronic	ALOX5	ALOX5	ENSG00000012779	Na	Na	Na	Na	Na	Na	Het;T>C	823;28|38	Hom;T>C	1052;0|37
N	N	-	10	4698360	4698360	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00705																		rs12249207	0.121206	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00705	LINC00705	ENSG00000225269,ENSG00000231298	Na	Na	Na	Na	Na	Na	Het;C>T	479;45|24	Hom;C>T	1278;0|47
N	N	-	10	47158904	47158904	C	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000223477																		rs76674881	0.571086	0.5057	0.6338	1	0	0	intronic	intronic	ncRNA_intronic	ANXA8	ANXA8	ENSG00000223477	Na	Na	Na	Na	Na	Na	Het;C>T	2373;104|122	Hom;C>T	2551;2|102
N	N	-	10	47158935	47158935	C	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000223477																		rs3740295	0.557907	0	0.5913	1	0	0	intronic	intronic	ncRNA_intronic	ANXA8	ANXA8	ENSG00000223477	Na	Na	Na	Na	Na	Na	Het;C>T	2288;92|113	Hom;C>T	2051;6|86
N	N	-	10	48001601	48001601	T	TCACA	indel	downstream	 	 	 	 	ENSG00000072444																		Na	0	0	0	1	0	0	intergenic	intergenic	downstream	ANXA8L1(dist=238561),CTSLP2(dist=154342)	FAM21B(dist=52184),CTSL1P2(dist=154342)	ENSG00000072444	Na	Na	Na	Na	Na	Na	Het;+CACA	154;2|6	Hom;+CACA	166;1|5
N	N	-	10	48386110	48386110	T	C	snp	intronic	 	 	 	 	RBP3	Rbp3	ENSG00000265203	retinol binding protein 3	chr10:48381487-48390991	Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]	Retinal Dystrophies|Retinitis Pigmentosa	Mice homozygous for disruptions in this gene experience photoreceptor degeneration.	The canonical retinoid cycle in rods (twilight vision)	GO:0001523;retinoid metabolic process;TAS|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0007601;visual perception;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0033165;interphotoreceptor matrix;IEA|GO:1903561;extracellular vesicle;IDA	GO:0005501;retinoid binding;TAS|GO:0008236;serine-type peptidase activity;IEA|GO:0016918;retinal binding;IEA|GO:0019841;retinol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBP3		https://hpo.jax.org/app/browse/search?q=RBP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180290	http://www.informatics.jax.org/searchtool/Search.do?query=RBP3&submit=Quick%0D%20598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBP3	rs2070706	0.597244	0	0	1	0	0	intronic	intronic	intronic	RBP3	RBP3	ENSG00000107618	Na	Na	Na	Na	Na	Na	Het;T>C	254;8|12	Hom;T>C	355;0|12
N	N	-	10	48438734	48438734	C	T	snp	UTR5	-24G>A	 	 	 	GDF10	Gdf10	ENSG00000266524	growth differentiation factor 10	chr10:48425815-48438976	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016]	Myocardial Infarction; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alzheimer's disease ; Socioeconomic Factors	Mice homozygous for disruption of this gene display a normal phenotype.		GO:0001501;skeletal system development;TAS|GO:0001503;ossification;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IEA|GO:0030509;BMP signaling pathway;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0045444;fat cell differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0048468;cell development;IBA|GO:0060395;SMAD protein signal transduction;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0008083;growth factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GDF10			https://www.ncbi.nlm.nih.gov/omim/?term=601361	http://www.informatics.jax.org/searchtool/Search.do?query=GDF10&submit=Quick%0D%20627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF10	rs1126827	0.684904	0.75	0.7690	1	0	0	UTR5	UTR5	UTR5	GDF10(NM_004962:c.-24G>A)	GDF10(uc001jfb.3:c.-24G>A,uc009xnp.3:c.-24G>A,uc009xnq.2:c.-24G>A)	ENSG00000107623(ENST00000224605:c.-24G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	263;20|13	Hom;C>T	553;0|23
N	N	-	10	48638734	48638734	C	G	snp	intergenic	 	 	 	 	ENSG00000107623																		rs11592678	0.151358	0	0	1	0	0	intergenic	intergenic	intergenic	GDF10(dist=199596),PTPN20(dist=98308)	GDF10(dist=199596),PTPN20B(dist=98308)	ENSG00000107623(dist=199758),ENSG00000183675(dist=98140)	Na	Na	Na	Na	Na	Na	Het;C>G	811;32|41	Hom;C>G	1033;0|36
N	N	-	10	49783540	49783540	T	C	snp	intronic	 	 	 	 	ARHGAP22	Arhgap22	ENSG00000128805	Rho GTPase activating protein 22	chr10:49654077-49864310	This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Alzheimer's disease ; Conduct Disorder; Blood Pressure; Tobacco Use Disorder; Hip	 	Rho GTPase cycle	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP22	https://www.uniprot.org/uniprot/Q7Z5H3		https://www.ncbi.nlm.nih.gov/omim/?term=610585	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP22&submit=Quick%0D%6184ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP22	rs1867588	0.676518	0	0	1	0	0	intronic	intronic	intronic	ARHGAP22	ARHGAP22	ENSG00000128805	Na	Na	Na	Na	Na	Na	Het;T>C	107;4|4	Hom;T>C	119;0|4
N	N	-	10	49929491	49929491	A	C	snp	intronic	 	 	 	 	WDFY4	Wdfy4	ENSG00000128815	WDFY family member 4	chr10:49892921-50191001		Cholesterol; Aorta, Abdominal; systemic lupus erythematosus ; bladder cancer; Behcet Syndrome; Antidepressive Agents; Aorta; systemic lupus erythematosus; Uric Acid; Body Mass Index; Lipoproteins; Lupus Erythematosus, Systemic; Tobacco Use Disorder; Alzheimer's disease ; Glucose	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDFY4	https://www.uniprot.org/uniprot/Q6ZS81		https://www.ncbi.nlm.nih.gov/omim/?term=613316	http://www.informatics.jax.org/searchtool/Search.do?query=WDFY4&submit=Quick%0D%6185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDFY4	rs10857625	0.48103	0	0	1	0	0	intronic	intronic	intronic	WDFY4	WDFY4	ENSG00000128815	Na	Na	Na	Na	Na	Na	Het;A>C	448;24|19	Hom;A>C	1273;0|46
N	N	-	10	5008987	5008991	GAAGA	G	indel	intronic	 	 	 	 	AKR1C1	Akr1c21	ENSG00000187134	aldo-keto reductase family 1 member C1	chr10:4934796-5025475	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; lymphoma lymphoma, non-Hodgkin; Lymphoma, Non-Hodgkin; non-Hodgkin lymphoma; breast cancer ; lung cancer; Alcoholism	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006805;xenobiotic metabolic process;NAS|GO:0007586;digestion;IDA|GO:0008206;bile acid metabolic process;IDA|GO:0015721;bile acid and bile salt transport;TAS|GO:0030299;intestinal cholesterol absorption;TAS|GO:0030855;epithelial cell differentiation;IDA|GO:0042448;progesterone metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0042632;cholesterol homeostasis;TAS|GO:0044597;daunorubicin metabolic process;IMP|GO:0044598;doxorubicin metabolic process;IMP|GO:0046683;response to organophosphorus;IEP|GO:0051260;protein homooligomerization;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0071395;cellular response to jasmonic acid stimulus;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004032;alditol:NADP+ 1-oxidoreductase activity;IDA|GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0018636;phenanthrene 9,10-monooxygenase activity;IDA|GO:0031406;carboxylic acid binding;IDA|GO:0032052;bile acid binding;IDA|GO:0047006;17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity;IEA|GO:0047042;androsterone dehydrogenase (B-specific) activity;IDA|GO:0047086;ketosteroid monooxygenase activity;IDA|GO:0047115;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity;IDA|GO:0047718;indanol dehydrogenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR1C1			https://www.ncbi.nlm.nih.gov/omim/?term=600449	http://www.informatics.jax.org/searchtool/Search.do?query=AKR1C1&submit=Quick%0D%15785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR1C1	rs10562538	0.170727	0	0	1	0	0	intronic	intronic	intronic	AKR1C1	AKR1C1,AKR1C3	ENSG00000187134	Na	Na	Na	Na	Na	Na	Het;-AAGA	368;5|10	Hom;-AAGA	323;0|8
N	N	-	10	5009364	5009364	T	C	snp	UTR3	*57T>C	 	 	 	AKR1C1	Akr1c21	ENSG00000187134	aldo-keto reductase family 1 member C1	chr10:4934796-5025475	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; lymphoma lymphoma, non-Hodgkin; Lymphoma, Non-Hodgkin; non-Hodgkin lymphoma; breast cancer ; lung cancer; Alcoholism	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006805;xenobiotic metabolic process;NAS|GO:0007586;digestion;IDA|GO:0008206;bile acid metabolic process;IDA|GO:0015721;bile acid and bile salt transport;TAS|GO:0030299;intestinal cholesterol absorption;TAS|GO:0030855;epithelial cell differentiation;IDA|GO:0042448;progesterone metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0042632;cholesterol homeostasis;TAS|GO:0044597;daunorubicin metabolic process;IMP|GO:0044598;doxorubicin metabolic process;IMP|GO:0046683;response to organophosphorus;IEP|GO:0051260;protein homooligomerization;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0071395;cellular response to jasmonic acid stimulus;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004032;alditol:NADP+ 1-oxidoreductase activity;IDA|GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0018636;phenanthrene 9,10-monooxygenase activity;IDA|GO:0031406;carboxylic acid binding;IDA|GO:0032052;bile acid binding;IDA|GO:0047006;17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity;IEA|GO:0047042;androsterone dehydrogenase (B-specific) activity;IDA|GO:0047086;ketosteroid monooxygenase activity;IDA|GO:0047115;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity;IDA|GO:0047718;indanol dehydrogenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR1C1			https://www.ncbi.nlm.nih.gov/omim/?term=600449	http://www.informatics.jax.org/searchtool/Search.do?query=AKR1C1&submit=Quick%0D%15785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR1C1	rs2904802	0.704872	0	0	1	0	0	intronic	UTR3	intronic	AKR1C1	AKR1C1(uc009xhx.2:c.*57T>C)	ENSG00000187134	Na	Na	Na	Na	Na	Na	Het;T>C	64;6|3	Hom;T>C	484;0|15
N	N	-	10	5014545	5014545	T	TA	indel	intronic	 	 	 	 	AKR1C1	Akr1c21	ENSG00000187134	aldo-keto reductase family 1 member C1	chr10:4934796-5025475	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; lymphoma lymphoma, non-Hodgkin; Lymphoma, Non-Hodgkin; non-Hodgkin lymphoma; breast cancer ; lung cancer; Alcoholism	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006805;xenobiotic metabolic process;NAS|GO:0007586;digestion;IDA|GO:0008206;bile acid metabolic process;IDA|GO:0015721;bile acid and bile salt transport;TAS|GO:0030299;intestinal cholesterol absorption;TAS|GO:0030855;epithelial cell differentiation;IDA|GO:0042448;progesterone metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0042632;cholesterol homeostasis;TAS|GO:0044597;daunorubicin metabolic process;IMP|GO:0044598;doxorubicin metabolic process;IMP|GO:0046683;response to organophosphorus;IEP|GO:0051260;protein homooligomerization;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0071395;cellular response to jasmonic acid stimulus;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004032;alditol:NADP+ 1-oxidoreductase activity;IDA|GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0018636;phenanthrene 9,10-monooxygenase activity;IDA|GO:0031406;carboxylic acid binding;IDA|GO:0032052;bile acid binding;IDA|GO:0047006;17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity;IEA|GO:0047042;androsterone dehydrogenase (B-specific) activity;IDA|GO:0047086;ketosteroid monooxygenase activity;IDA|GO:0047115;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity;IDA|GO:0047718;indanol dehydrogenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR1C1			https://www.ncbi.nlm.nih.gov/omim/?term=600449	http://www.informatics.jax.org/searchtool/Search.do?query=AKR1C1&submit=Quick%0D%15785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR1C1	rs67671072	0.569489	0	0.5681	1	0	0	intronic	intronic	intronic	AKR1C1	AKR1C1,AKR1C3	ENSG00000187134	Na	Na	Na	Na	Na	Na	Het;+A	740;34|35	Hom;+A	2316;0|84
N	N	-	10	50535186	50535186	C	T	snp	UTR3	*125C>T	 	 	 	C10orf71	3425401B19Rik	ENSG00000177354	chromosome 10 open reading frame 71	chr10:50507187-50535537		HIV-1	 					http://www.genecards.org/index.php?path=/Search/keyword/C10orf71				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf71&submit=Quick%0D%14009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf71	rs71500272	0.211462	0	0	1	0	0	UTR3	UTR3	UTR3	C10orf71(NM_001135196:c.*288C>T)	C10orf71(uc021pqa.2:c.*288C>T)	ENSG00000177354(ENST00000323868:c.*125C>T,ENST00000374144:c.*288C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	90;1|5	Hom;C>T	71;0|4
N	N	-	10	50856772	50856774	TAC	T	indel	intronic	 	 	 	 	CHAT	Chat	ENSG00000070748	choline O-acetyltransferase	chr10:50817141-50901925	This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]	Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Alzheimer's disease; Alzheimers disease; Weight Gain; Alzheimer Disease|Alzheimer's Disease|Amnesia; Acquired Immunodeficiency Syndrome|Disease Progression; depression; schizophrenia; Alzheimer's Disease; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; bipolar disorder	Homozygous mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis(drop wrist).	Acetylcholine Neurotransmitter Release Cycle	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0042136;neurotransmitter biosynthetic process;IEA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0004102;choline O-acetyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHAT	https://www.uniprot.org/uniprot/P28329	https://hpo.jax.org/app/browse/search?q=CHAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=118490	http://www.informatics.jax.org/searchtool/Search.do?query=CHAT&submit=Quick%0D%1370ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAT	rs10580502	0.809505	0	0	1	0	0	intronic	intronic	intronic	CHAT	CHAT	ENSG00000070748	Na	Na	Na	Na	Na	Na	Het;-AC	190;2|9	Hom;-AC	58;0|3
N	N	-	10	51499655	51499655	A	C	snp	intronic	 	 	 	 	TIMM23B	 	ENSG00000204152	translocase of inner mitochondrial membrane 23 homolog B	chr10:51371390-51387768			Mice homozygous for a gene trapped allele die prior to E3.5.  Mice heterogygous for this allele exhibit background sensitive premature aging and increased mortality.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0008150;biological_process;ND|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA	GO:0005575;cellular_component;ND|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA	GO:0003674;molecular_function;ND|GO:0015266;protein channel activity;IBA|GO:0015450;P-P-bond-hydrolysis-driven protein transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMM23B				http://www.informatics.jax.org/searchtool/Search.do?query=TIMM23B&submit=Quick%0D%17211ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM23B	rs11599333	0.492412	0	0	1	0	0	intronic	intronic	intergenic	TIMM23B	PARG,TIMM23,TIMM23B	ENSG00000204169(dist=13328),ENSG00000228326(dist=32447)	Na	Na	Na	Na	Na	Na	Het;A>C	51;1|3	Hom;A>C	71;0|4
N	N	-	10	54069080	54069080	T	C	snp	ncRNA_intronic	 	 	 	 	PRKG1-AS1																		rs10646074	0.310503	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	PRKG1-AS1	PRKG1-AS1	ENSG00000236671	Na	Na	Na	Na	Na	Na	Het;T>C	65;8|3	Hom;T>C	290;0|7
N	N	-	10	5415954	5415954	A	G	snp	nonsynonymous SNV	A271G	R91G	polar,hydrophilic,charged(+)	aliphatic,neutral	UCN3	Ucn3	ENSG00000178473	urocortin 3	chr10:5406972-5416169	This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family of proteins. The encoded preproprotein is proteolytically processed to generate the mature peptide hormone, which is secreted by pancreatic beta and alpha cells. This hormone is an endogenous ligand for corticotropin-releasing factor receptor 2 and may regulate insulin secretion in response to plasma glucose levels. Patients with type 2 diabetes exhibit reduced levels of the encoded protein in beta cells. In the brain, the encoded protein may be responsible for the effects of stress on appetite. [provided by RefSeq, May 2016]	bronchodilator response; depression; Hypertension	Mice homozygous for one null allele are protected from the hyperinsulinemia, hyperglycemia, glucose intolerance, hepatic steatosis and hypertriglyceridemia induced by a high-fat diet, and show better glucose tolerance as they age. Mice homozygous for another null allele show improved social memory.	Class B/2 (Secretin family receptors)	GO:0006950;response to stress;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007586;digestion;IEA|GO:0009749;response to glucose;IEA|GO:0031669;cellular response to nutrient levels;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0035902;response to immobilization stress;IEA|GO:0042594;response to starvation;IEA|GO:0045838;positive regulation of membrane potential;IEA|GO:0051412;response to corticosterone;IEA|GO:0071456;cellular response to hypoxia;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0030424;axon;IEA|GO:0043005;neuron projection;IEA|GO:0043196;varicosity;IEA|GO:0043679;axon terminus;IEA	GO:0001664;G-protein coupled receptor binding;IBA|GO:0005179;hormone activity;IEA|GO:0051431;corticotropin-releasing hormone receptor 2 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UCN3			https://www.ncbi.nlm.nih.gov/omim/?term=605901	http://www.informatics.jax.org/searchtool/Search.do?query=UCN3&submit=Quick%0D%14191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UCN3	rs10904481	0.445887	0.3102	0.3756	0.08	1	13	exonic	exonic	exonic	UCN3	UCN3	ENSG00000178473	nonsynonymous SNV	nonsynonymous SNV	unknown	UCN3:NM_053049:exon2:c.A271G:p.R91G,	UCN3:uc001ihx.1:exon2:c.A271G:p.R91G,	UNKNOWN	Het;A>G	1932;94|87	Hom;A>G	5354;4|194
N	N	-	10	5435918	5435918	G	A	snp	synonymous SNV	C903T	A301A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TUBAL3	Tubal3	ENSG00000178462	tubulin alpha like 3	chr10:5435061-5446793		HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBAL3				http://www.informatics.jax.org/searchtool/Search.do?query=TUBAL3&submit=Quick%0D%14189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBAL3	rs7097775	0.668131	0.6712	0.6546	1	0	0	exonic	exonic	exonic	TUBAL3	TUBAL3	ENSG00000178462	synonymous SNV	synonymous SNV	unknown	TUBAL3:NM_024803:exon4:c.C903T:p.A301A,TUBAL3:NM_001171864:exon4:c.C783T:p.A261A,	TUBAL3:uc001ihy.3:exon4:c.C903T:p.A301A,TUBAL3:uc001ihz.3:exon4:c.C783T:p.A261A,	UNKNOWN	Het;G>A	2062;88|93	Hom;G>A	3890;0|138
N	N	-	10	5436260	5436260	A	G	snp	synonymous SNV	T561C	A187A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TUBAL3	Tubal3	ENSG00000178462	tubulin alpha like 3	chr10:5435061-5446793		HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBAL3				http://www.informatics.jax.org/searchtool/Search.do?query=TUBAL3&submit=Quick%0D%14189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBAL3	rs7910290	0.779153	0.7205	0.7381	1	0	0	exonic	exonic	exonic	TUBAL3	TUBAL3	ENSG00000178462	synonymous SNV	synonymous SNV	unknown	TUBAL3:NM_024803:exon4:c.T561C:p.A187A,TUBAL3:NM_001171864:exon4:c.T441C:p.A147A,	TUBAL3:uc001ihy.3:exon4:c.T561C:p.A187A,TUBAL3:uc001ihz.3:exon4:c.T441C:p.A147A,	UNKNOWN	Het;A>G	1980;76|83	Hom;A>G	4606;1|169
N	N	-	10	5436487	5436487	A	G	snp	intronic	 	 	 	 	TUBAL3	Tubal3	ENSG00000178462	tubulin alpha like 3	chr10:5435061-5446793		HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBAL3				http://www.informatics.jax.org/searchtool/Search.do?query=TUBAL3&submit=Quick%0D%14189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBAL3	rs6601957	0.792332	0	0	1	0	0	intronic	intronic	intronic	TUBAL3	TUBAL3	ENSG00000178462	Na	Na	Na	Na	Na	Na	Het;A>G	227;16|11	Hom;A>G	561;0|18
N	N	-	10	5437365	5437365	A	G	snp	synonymous SNV	T321C	A107A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TUBAL3	Tubal3	ENSG00000178462	tubulin alpha like 3	chr10:5435061-5446793		HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBAL3				http://www.informatics.jax.org/searchtool/Search.do?query=TUBAL3&submit=Quick%0D%14189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBAL3	rs11253156	0.789736	0.7296	0.7417	1	0	0	exonic	exonic	exonic	TUBAL3	TUBAL3	ENSG00000178462	synonymous SNV	synonymous SNV	unknown	TUBAL3:NM_024803:exon3:c.T321C:p.A107A,TUBAL3:NM_001171864:exon3:c.T201C:p.A67A,	TUBAL3:uc001ihy.3:exon3:c.T321C:p.A107A,TUBAL3:uc001ihz.3:exon3:c.T201C:p.A67A,	UNKNOWN	Het;A>G	1187;67|55	Hom;A>G	3147;2|112
N	N	-	10	54380429	54380429	G	A	snp	ncRNA_intronic	 	 	 	 	AC074327.1																		rs1912607	0.445288	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01468(dist=150136),MBL2(dist=144711)	BC015429(dist=165397),MBL2(dist=144711)	ENSG00000228651	Na	Na	Na	Na	Na	Na	Het;G>A	374;19|16	Hom;G>A	1414;0|47
N	N	-	10	5446632	5446632	G	A	snp	intronic	 	 	 	 	TUBAL3	Tubal3	ENSG00000178462	tubulin alpha like 3	chr10:5435061-5446793		HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBAL3				http://www.informatics.jax.org/searchtool/Search.do?query=TUBAL3&submit=Quick%0D%14189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBAL3	rs10904491	0.635783	0	0	1	0	0	intronic	intronic	intronic	TUBAL3	TUBAL3	ENSG00000178462	Na	Na	Na	Na	Na	Na	Het;G>A	131;10|6	Hom;G>A	482;0|17
N	N	-	10	5446794	5446794	C	T	snp	upstream	 	 	 	 	TUBAL3	Tubal3	ENSG00000178462	tubulin alpha like 3	chr10:5435061-5446793		HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBAL3				http://www.informatics.jax.org/searchtool/Search.do?query=TUBAL3&submit=Quick%0D%14189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBAL3	rs7477466	0.760184	0.7034	0.7312	1	0	0	upstream	upstream	upstream	TUBAL3	TUBAL3	ENSG00000178462	Na	Na	Na	Na	Na	Na	Het;C>T	1130;76|58	Hom;C>T	2308;0|88
N	N	-	10	5446942	5446942	C	T	snp	upstream	 	 	 	 	TUBAL3	Tubal3	ENSG00000178462	tubulin alpha like 3	chr10:5435061-5446793		HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBAL3				http://www.informatics.jax.org/searchtool/Search.do?query=TUBAL3&submit=Quick%0D%14189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBAL3	rs4881435	0.760184	0	0	1	0	0	upstream	upstream	upstream	TUBAL3	TUBAL3	ENSG00000178462	Na	Na	Na	Na	Na	Na	Het;C>T	58;4|3	Hom;C>T	148;0|5
N	N	-	10	54931516	54931516	G	GTT	indel	intergenic	 	 	 	 	SNRPEP8																		rs57718025	0	0	0	1	0	0	intergenic	intergenic	intergenic	MBL2(dist=400056),PCDH15(dist=631017)	MBL2(dist=400056),PCDH15(dist=631017)	ENSG00000231399(dist=133212),ENSG00000226296(dist=119316)	Na	Na	Na	Na	Na	Na	Het;+TT	335;27|21	Hom;+TT	2135;0|72
N	N	-	10	5501101	5501101	T	TA	indel	downstream	 	 	 	 	NET1	Net1	ENSG00000173848	neuroepithelial cell transforming 1	chr10:5454514-5500426	This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]	attention deficit hyperactivity disorder; bipolar disorder schizophrenia; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit delayed mammary gland development during puberty associated with slower ductal extension, reduced ductal branching and epithelial cell proliferation, disorganized myoepithelial and ductal epithelial cells, and increased collagen deposition.	G alpha (12/13) signalling events	GO:0001558;regulation of cell growth;NAS|GO:0007165;signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051451;myoblast migration;IEA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017049;GTP-Rho binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NET1			https://www.ncbi.nlm.nih.gov/omim/?term=606450	http://www.informatics.jax.org/searchtool/Search.do?query=NET1&submit=Quick%0D%13435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NET1	rs11429723	0.597843	0	0	1	0	0	downstream	downstream	downstream	NET1	NET1	ENSG00000173848	Na	Na	Na	Na	Na	Na	Het;+A	60;6|5	Hom;+A	258;0|11
N	N	-	10	55129748	55129748	A	G	snp	intergenic	 	 	 	 	AC036101.1																		rs75404345	0.216454	0	0	1	0	0	intergenic	intergenic	intergenic	MBL2(dist=598288),PCDH15(dist=432785)	MBL2(dist=598288),PCDH15(dist=432785)	ENSG00000226296(dist=58923),ENSG00000252161(dist=88209)	Na	Na	Na	Na	Na	Na	Het;A>G	39;2|2	Hom;A>G	233;0|8
N	N	-	10	55129803	55129803	C	T	snp	intergenic	 	 	 	 	AC036101.1																		rs80218173	0.216454	0	0	1	0	0	intergenic	intergenic	intergenic	MBL2(dist=598343),PCDH15(dist=432730)	MBL2(dist=598343),PCDH15(dist=432730)	ENSG00000226296(dist=58978),ENSG00000252161(dist=88154)	Na	Na	Na	Na	Na	Na	Het;C>T	419;19|12	Hom;C>T	1447;0|31
N	N	-	10	55129807	55129807	C	T	snp	intergenic	 	 	 	 	AC036101.1																		rs76173882	0.216454	0	0	1	0	0	intergenic	intergenic	intergenic	MBL2(dist=598347),PCDH15(dist=432726)	MBL2(dist=598347),PCDH15(dist=432726)	ENSG00000226296(dist=58982),ENSG00000252161(dist=88150)	Na	Na	Na	Na	Na	Na	Het;C>T	416;20|12	Hom;C>T	1447;0|34
N	N	-	10	55129863	55129863	A	T	snp	intergenic	 	 	 	 	AC036101.1																		rs35133620	0.216653	0	0	1	0	0	intergenic	intergenic	intergenic	MBL2(dist=598403),PCDH15(dist=432670)	MBL2(dist=598403),PCDH15(dist=432670)	ENSG00000226296(dist=59038),ENSG00000252161(dist=88094)	Na	Na	Na	Na	Na	Na	Het;A>T	206;35|15	Hom;A>T	1399;0|56
N	N	-	10	5567366	5567366	G	A	snp	synonymous SNV	G318A	L106L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CALML3	Calml3	ENSG00000178363	calmodulin like 3	chr10:5566924-5568225		Alzheimer's disease 	 			GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CALML3			https://www.ncbi.nlm.nih.gov/omim/?term=114184	http://www.informatics.jax.org/searchtool/Search.do?query=CALML3&submit=Quick%0D%14173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALML3	rs1142825	0.418331	0.3215	0.3255	1	0	0	exonic	exonic	exonic	CALML3	CALML3	ENSG00000178363	synonymous SNV	synonymous SNV	unknown	CALML3:NM_005185:exon1:c.G318A:p.L106L,	CALML3:uc001iie.1:exon1:c.G318A:p.L106L,	UNKNOWN	Het;G>A	2685;148|125	Hom;G>A	7721;2|287
N	N	-	10	5567967	5567967	G	T	snp	UTR3	*469G>T	 	 	 	CALML3	Calml3	ENSG00000178363	calmodulin like 3	chr10:5566924-5568225		Alzheimer's disease 	 			GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CALML3			https://www.ncbi.nlm.nih.gov/omim/?term=114184	http://www.informatics.jax.org/searchtool/Search.do?query=CALML3&submit=Quick%0D%14173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALML3	rs1131482	0.338658	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_intronic	CALML3-AS1	CALML3(uc001iie.1:c.*469G>T)	ENSG00000205488	Na	Na	Na	Na	Na	Na	Het;G>T	92;3|4	Hom;G>T	277;0|10
N	N	-	10	56036947	56036947	G	A	snp	intronic	 	 	 	 	PCDH15	Pcdh15	ENSG00000150275	protocadherin related 15	chr10:55562531-57387702	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]	Usher syndrome; Lipoproteins, HDL; Cholesterol, HDL; Alcoholism; Erythrocyte Count; Heart Failure; Asthma; Celiac Disease|; Hip; smoking cessation; familial combined hyperlipidemia; C-Reactive Protein; Insulin; Myocardial Infarction; hearing loss, sensorineural nonsyndromic; Apolipoproteins E; Exercise Test; Cholesterol, LDL; Tobacco Use Disorder; Mental Competency; Type 2 Diabetes| edema | rosiglitazone; Hand Strength; Triglycerides; Arthritis, Rheumatoid; Retinal Diseases; Body Weights and Measures; Body Weight; Cardiomegaly; Alzheimer's disease ; Alzheimer's disease	Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers.		GO:0001964;startle response;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0007628;adult walking behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042491;auditory receptor cell differentiation;IEA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0048839;inner ear development;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0050973;detection of mechanical stimulus involved in equilibrioception;IEA|GO:0051017;actin filament bundle assembly;IEA|GO:0051592;response to calcium ion;IEA|GO:0060013;righting reflex;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0001750;photoreceptor outer segment;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0045202;synapse;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0032403;protein complex binding;IEA|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDH15	https://www.uniprot.org/uniprot/Q96QU1	https://hpo.jax.org/app/browse/search?q=PCDH15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605514	http://www.informatics.jax.org/searchtool/Search.do?query=PCDH15&submit=Quick%0D%9307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH15	rs12247773	0.377995	0	0	1	0	0	intronic	intronic	intronic	PCDH15	PCDH15	ENSG00000150275	Na	Na	Na	Na	Na	Na	Het;G>A	103;17|7	Hom;G>A	439;0|18
N	N	-	10	56077209	56077209	G	A	snp	intronic	 	 	 	 	PCDH15	Pcdh15	ENSG00000150275	protocadherin related 15	chr10:55562531-57387702	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]	Usher syndrome; Lipoproteins, HDL; Cholesterol, HDL; Alcoholism; Erythrocyte Count; Heart Failure; Asthma; Celiac Disease|; Hip; smoking cessation; familial combined hyperlipidemia; C-Reactive Protein; Insulin; Myocardial Infarction; hearing loss, sensorineural nonsyndromic; Apolipoproteins E; Exercise Test; Cholesterol, LDL; Tobacco Use Disorder; Mental Competency; Type 2 Diabetes| edema | rosiglitazone; Hand Strength; Triglycerides; Arthritis, Rheumatoid; Retinal Diseases; Body Weights and Measures; Body Weight; Cardiomegaly; Alzheimer's disease ; Alzheimer's disease	Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers.		GO:0001964;startle response;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0007628;adult walking behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042491;auditory receptor cell differentiation;IEA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0048839;inner ear development;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0050973;detection of mechanical stimulus involved in equilibrioception;IEA|GO:0051017;actin filament bundle assembly;IEA|GO:0051592;response to calcium ion;IEA|GO:0060013;righting reflex;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0001750;photoreceptor outer segment;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0045202;synapse;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0032403;protein complex binding;IEA|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDH15	https://www.uniprot.org/uniprot/Q96QU1	https://hpo.jax.org/app/browse/search?q=PCDH15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605514	http://www.informatics.jax.org/searchtool/Search.do?query=PCDH15&submit=Quick%0D%9307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH15	rs10740579	0.603834	0.7402	0.6604	1	0	0	intronic	intronic	intronic	PCDH15	PCDH15	ENSG00000150275	Na	Na	Na	Na	Na	Na	Het;G>A	920;26|42	Hom;G>A	2435;0|82
N	N	-	10	56089263	56089263	G	A	snp	intronic	 	 	 	 	PCDH15	Pcdh15	ENSG00000150275	protocadherin related 15	chr10:55562531-57387702	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]	Usher syndrome; Lipoproteins, HDL; Cholesterol, HDL; Alcoholism; Erythrocyte Count; Heart Failure; Asthma; Celiac Disease|; Hip; smoking cessation; familial combined hyperlipidemia; C-Reactive Protein; Insulin; Myocardial Infarction; hearing loss, sensorineural nonsyndromic; Apolipoproteins E; Exercise Test; Cholesterol, LDL; Tobacco Use Disorder; Mental Competency; Type 2 Diabetes| edema | rosiglitazone; Hand Strength; Triglycerides; Arthritis, Rheumatoid; Retinal Diseases; Body Weights and Measures; Body Weight; Cardiomegaly; Alzheimer's disease ; Alzheimer's disease	Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers.		GO:0001964;startle response;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0007628;adult walking behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042491;auditory receptor cell differentiation;IEA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0048839;inner ear development;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0050973;detection of mechanical stimulus involved in equilibrioception;IEA|GO:0051017;actin filament bundle assembly;IEA|GO:0051592;response to calcium ion;IEA|GO:0060013;righting reflex;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0001750;photoreceptor outer segment;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0045202;synapse;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0032403;protein complex binding;IEA|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDH15	https://www.uniprot.org/uniprot/Q96QU1	https://hpo.jax.org/app/browse/search?q=PCDH15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605514	http://www.informatics.jax.org/searchtool/Search.do?query=PCDH15&submit=Quick%0D%9307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH15	rs857395	0.639976	0	0	1	0	0	intronic	intronic	intronic	PCDH15	PCDH15	ENSG00000150275	Na	Na	Na	Na	Na	Na	Het;G>A	38;7|4	Hom;G>A	389;0|13
N	N	-	10	58059631	58059631	G	C	snp	intergenic	 	 	 	 	AC069545.1																		rs75961019	0	0	0	1	0	0	intergenic	intergenic	intergenic	MTRNR2L5(dist=699144),ZWINT(dist=57568)	PCDH15(dist=671929),ZWINT(dist=57568)	ENSG00000270541(dist=552963),ENSG00000122952(dist=57358)	Na	Na	Na	Na	Na	Na	Het;G>C	119;1|4	Hom;G>C	264;0|8
N	N	-	10	58059680	58059680	T	C	snp	intergenic	 	 	 	 	AC069545.1																		rs16908654	0.140974	0	0	1	0	0	intergenic	intergenic	intergenic	MTRNR2L5(dist=699193),ZWINT(dist=57519)	PCDH15(dist=671978),ZWINT(dist=57519)	ENSG00000270541(dist=553012),ENSG00000122952(dist=57309)	Na	Na	Na	Na	Na	Na	Het;T>C	358;10|14	Hom;T>C	955;0|30
N	N	-	10	58118630	58118630	T	C	snp	nonsynonymous SNV	A559G	R187G	polar,hydrophilic,charged(+)	aliphatic,neutral	ZWINT	Zwint	ENSG00000122952	ZW10 interacting kinetochore protein	chr10:58116989-58121036	This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Bone Density; Erythrocyte Count; Blood Pressure Determination; Alzheimer's disease; Neuropsychological Tests; Respiratory Function Tests; Lipoproteins, VLDL; Parkinson Disease; Body Weight; breast cancer ; Hip	Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and somite formation with inner cell mass and epiblast cells forming smaller outgrowth colonies.	Mitotic Prometaphase	GO:0000070;mitotic sister chromatid segregation;IDA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0051301;cell division;IEA|GO:0051649;establishment of localization in cell;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZWINT	https://www.uniprot.org/uniprot/O95229		https://www.ncbi.nlm.nih.gov/omim/?term=609177	http://www.informatics.jax.org/searchtool/Search.do?query=ZWINT&submit=Quick%0D%5470ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZWINT	rs2241666	0.761981	0.6725	0.6805	0.08	1	13	exonic	exonic	exonic	ZWINT	ZWINT	ENSG00000122952	nonsynonymous SNV	nonsynonymous SNV	unknown	ZWINT:NM_007057:exon6:c.A559G:p.R187G,ZWINT:NM_032997:exon6:c.A559G:p.R187G,	ZWINT:uc009xoy.2:exon5:c.A199G:p.R67G,ZWINT:uc001jka.1:exon6:c.A559G:p.R187G,ZWINT:uc031pvd.1:exon4:c.A199G:p.R67G,ZWINT:uc001jjx.1:exon6:c.A559G:p.R187G,	UNKNOWN	Het;T>C	672;44|36	Hom;T>C	2779;0|102
N	N	-	10	58191990	58191990	G	C	snp	intergenic	 	 	 	 	ZWINT	Zwint	ENSG00000122952	ZW10 interacting kinetochore protein	chr10:58116989-58121036	This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Bone Density; Erythrocyte Count; Blood Pressure Determination; Alzheimer's disease; Neuropsychological Tests; Respiratory Function Tests; Lipoproteins, VLDL; Parkinson Disease; Body Weight; breast cancer ; Hip	Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and somite formation with inner cell mass and epiblast cells forming smaller outgrowth colonies.	Mitotic Prometaphase	GO:0000070;mitotic sister chromatid segregation;IDA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0051301;cell division;IEA|GO:0051649;establishment of localization in cell;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZWINT	https://www.uniprot.org/uniprot/O95229		https://www.ncbi.nlm.nih.gov/omim/?term=609177	http://www.informatics.jax.org/searchtool/Search.do?query=ZWINT&submit=Quick%0D%5470ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZWINT	rs17653747	0.133586	0	0	1	0	0	intergenic	intergenic	intergenic	ZWINT(dist=70956),MIR3924(dist=872249)	ZWINT(dist=70956),MIR3924(dist=872249)	ENSG00000122952(dist=70954),ENSG00000238707(dist=163733)	Na	Na	Na	Na	Na	Na	Het;G>C	118;7|7	Hom;G>C	212;0|9
N	N	-	10	58420834	58420834	T	C	snp	intergenic	 	 	 	 	SNORD2																		rs7095793	0.835663	0	0	1	0	0	intergenic	intergenic	intergenic	ZWINT(dist=299800),MIR3924(dist=643405)	ZWINT(dist=299800),MIR3924(dist=643405)	ENSG00000238707(dist=65043),ENSG00000264747(dist=643405)	Na	Na	Na	Na	Na	Na	Het;T>C	158;14|9	Hom;T>C	523;0|22
N	N	-	10	58670932	58670932	C	A	snp	intergenic	 	 	 	 	SNORD2																		rs3000613	0.778954	0	0	1	0	0	intergenic	intergenic	intergenic	ZWINT(dist=549898),MIR3924(dist=393307)	ZWINT(dist=549898),MIR3924(dist=393307)	ENSG00000238707(dist=315141),ENSG00000264747(dist=393307)	Na	Na	Na	Na	Na	Na	Het;C>A	445;27|25	Hom;C>A	1189;0|48
N	N	-	10	58670955	58670955	C	T	snp	intergenic	 	 	 	 	SNORD2																		rs2918058	0.778954	0	0	1	0	0	intergenic	intergenic	intergenic	ZWINT(dist=549921),MIR3924(dist=393284)	ZWINT(dist=549921),MIR3924(dist=393284)	ENSG00000238707(dist=315164),ENSG00000264747(dist=393284)	Na	Na	Na	Na	Na	Na	Het;C>T	392;19|20	Hom;C>T	985;0|37
N	N	-	10	59101175	59101175	G	A	snp	intergenic	 	 	 	 	MIR3924																		rs2928477	0.128195	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3924(dist=36856),IPMK(dist=850103)	MIR3924(dist=36856),IPMK(dist=850103)	ENSG00000264747(dist=36856),ENSG00000235810(dist=171742)	Na	Na	Na	Na	Na	Na	Het;G>A	988;57|48	Hom;G>A	2838;0|109
N	N	-	10	5920121	5920121	T	C	snp	nonsynonymous SNV	A1058G	Q353R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ANKRD16	Ankrd16	ENSG00000134461	ankyrin repeat domain 16	chr10:5903580-5931869			Mice homozygous for a knock-out allele exhibit no obvious pathologies. The variant from CAST/Ei or CASA/RkJ suppresses the Aarssti phenotype.					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD16	https://www.uniprot.org/uniprot/Q6P6B7			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD16&submit=Quick%0D%6983ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD16	rs1052420	0.803914	0.8215	0.8524	0.23	3	13	exonic	exonic	exonic	ANKRD16	ANKRD16	ENSG00000134461	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD16:NM_019046:exon7:c.A1058G:p.Q353R,ANKRD16:NM_001009941:exon7:c.A1058G:p.Q353R,	ANKRD16:uc010qat.2:exon7:c.A1058G:p.Q353R,ANKRD16:uc009xif.3:exon7:c.A1058G:p.Q353R,	UNKNOWN	Het;T>C	433;44|23	Hom;T>C	1760;0|61
N	N	-	10	5922186	5922186	T	A	snp	intronic	 	 	 	 	ANKRD16	Ankrd16	ENSG00000134461	ankyrin repeat domain 16	chr10:5903580-5931869			Mice homozygous for a knock-out allele exhibit no obvious pathologies. The variant from CAST/Ei or CASA/RkJ suppresses the Aarssti phenotype.					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD16	https://www.uniprot.org/uniprot/Q6P6B7			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD16&submit=Quick%0D%6983ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD16	rs811561	0.865815	0	0	1	0	0	intronic	intronic	intronic	ANKRD16	ANKRD16	ENSG00000134461	Na	Na	Na	Na	Na	Na	Het;T>A	160;8|8	Hom;T>A	325;0|11
N	N	-	10	5924942	5924942	C	G	snp	intronic	 	 	 	 	ANKRD16	Ankrd16	ENSG00000134461	ankyrin repeat domain 16	chr10:5903580-5931869			Mice homozygous for a knock-out allele exhibit no obvious pathologies. The variant from CAST/Ei or CASA/RkJ suppresses the Aarssti phenotype.					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD16	https://www.uniprot.org/uniprot/Q6P6B7			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD16&submit=Quick%0D%6983ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD16	rs617165	0.865815	0.8899	0.8716	1	0	0	intronic	intronic	intronic	ANKRD16	ANKRD16	ENSG00000134461	Na	Na	Na	Na	Na	Na	Het;C>G	606;23|29	Hom;C>G	940;0|32
N	N	-	10	5925971	5925971	C	A	snp	synonymous SNV	G648T	G216G	aliphatic,neutral	aliphatic,neutral	ANKRD16	Ankrd16	ENSG00000134461	ankyrin repeat domain 16	chr10:5903580-5931869			Mice homozygous for a knock-out allele exhibit no obvious pathologies. The variant from CAST/Ei or CASA/RkJ suppresses the Aarssti phenotype.					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD16	https://www.uniprot.org/uniprot/Q6P6B7			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD16&submit=Quick%0D%6983ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD16	rs631947	0.922524	0.9157	0.9061	1	0	0	exonic	exonic	exonic	ANKRD16	ANKRD16	ENSG00000134461	synonymous SNV	synonymous SNV	unknown	ANKRD16:NM_019046:exon4:c.G648T:p.G216G,ANKRD16:NM_001009943:exon4:c.G648T:p.G216G,ANKRD16:NM_001009941:exon4:c.G648T:p.G216G,	ANKRD16:uc001iiq.3:exon4:c.G648T:p.G216G,ANKRD16:uc009xie.3:exon4:c.G648T:p.G216G,ANKRD16:uc010qat.2:exon4:c.G648T:p.G216G,ANKRD16:uc009xif.3:exon4:c.G648T:p.G216G,	UNKNOWN	Het;C>A	843;88|48	Hom;C>A	3680;0|139
N	N	-	10	5978411	5978411	T	C	snp	ncRNA_exonic	 	 	 	 	AL137186.2																		rs646406	0.829872	0.8551	0.8536	1	0	0	intronic	intronic	ncRNA_exonic	FBXO18	FBXO18	ENSG00000232807	Na	Na	Na	Na	Na	Na	Het;T>C	390;28|21	Hom;T>C	1917;0|66
N	N	-	10	5994694	5994694	A	C	snp	UTR3	*364T>G	 	 	 	IL15RA	Il15ra	ENSG00000134470	interleukin 15 receptor subunit alpha	chr10:5990855-6020150	This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]	Alzheimer's disease ; Lymphoma, Large B-Cell, Diffuse; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; Inflammation; metabolic syndrome; lung cancer ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; lung cancer; body mass; Celiac Disease|; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; respiratory syncytial virus bronchiolitis; Hyperparathyroidism, Secondary; bladder cancer; Body Weight|Obesity|Syndrome	Mutation of this gene results in absence of NK cell production in spleen and bone marrow.	Interleukin-15 signaling	GO:0007165;signal transduction;TAS|GO:0007259;JAK-STAT cascade;IEA|GO:0008283;cell proliferation;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032825;positive regulation of natural killer cell differentiation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA	GO:0004871;signal transducer activity;TAS|GO:0004896;cytokine receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL15RA	https://www.uniprot.org/uniprot/Q13261		https://www.ncbi.nlm.nih.gov/omim/?term=601070	http://www.informatics.jax.org/searchtool/Search.do?query=IL15RA&submit=Quick%0D%6985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL15RA	rs2296135	0.566693	0	0	1	0	0	UTR3	UTR3	UTR3	IL15RA(NM_001243539:c.*364T>G,NM_002189:c.*364T>G,NM_172200:c.*364T>G,NM_001256765:c.*364T>G)	IL15RA(uc021pmo.1:c.*364T>G,uc001iiv.3:c.*364T>G,uc010qau.2:c.*364T>G,uc021pmp.1:c.*364T>G,uc001iiw.3:c.*364T>G,uc001iiy.3:c.*364T>G)	ENSG00000134470(ENST00000379977:c.*364T>G,ENST00000397248:c.*364T>G,ENST00000397251:c.*364T>G,ENST00000525219:c.*364T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	2254;88|95	Hom;A>C	4492;0|153
N	N	-	10	5998285	5998285	G	A	snp	intronic	 	 	 	 	IL15RA	Il15ra	ENSG00000134470	interleukin 15 receptor subunit alpha	chr10:5990855-6020150	This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]	Alzheimer's disease ; Lymphoma, Large B-Cell, Diffuse; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; Inflammation; metabolic syndrome; lung cancer ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; lung cancer; body mass; Celiac Disease|; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; respiratory syncytial virus bronchiolitis; Hyperparathyroidism, Secondary; bladder cancer; Body Weight|Obesity|Syndrome	Mutation of this gene results in absence of NK cell production in spleen and bone marrow.	Interleukin-15 signaling	GO:0007165;signal transduction;TAS|GO:0007259;JAK-STAT cascade;IEA|GO:0008283;cell proliferation;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032825;positive regulation of natural killer cell differentiation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA	GO:0004871;signal transducer activity;TAS|GO:0004896;cytokine receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL15RA	https://www.uniprot.org/uniprot/Q13261		https://www.ncbi.nlm.nih.gov/omim/?term=601070	http://www.informatics.jax.org/searchtool/Search.do?query=IL15RA&submit=Quick%0D%6985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL15RA	rs3136627	0.446486	0.5042	0	1	0	0	intronic	intronic	intronic	IL15RA	IL15RA	ENSG00000134470	Na	Na	Na	Na	Na	Na	Het;G>A	540;10|22	Hom;G>A	908;0|34
N	N	-	10	6001696	6001696	C	T	snp	intronic	 	 	 	 	IL15RA	Il15ra	ENSG00000134470	interleukin 15 receptor subunit alpha	chr10:5990855-6020150	This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]	Alzheimer's disease ; Lymphoma, Large B-Cell, Diffuse; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; Inflammation; metabolic syndrome; lung cancer ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; lung cancer; body mass; Celiac Disease|; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; respiratory syncytial virus bronchiolitis; Hyperparathyroidism, Secondary; bladder cancer; Body Weight|Obesity|Syndrome	Mutation of this gene results in absence of NK cell production in spleen and bone marrow.	Interleukin-15 signaling	GO:0007165;signal transduction;TAS|GO:0007259;JAK-STAT cascade;IEA|GO:0008283;cell proliferation;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032825;positive regulation of natural killer cell differentiation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA	GO:0004871;signal transducer activity;TAS|GO:0004896;cytokine receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL15RA	https://www.uniprot.org/uniprot/Q13261		https://www.ncbi.nlm.nih.gov/omim/?term=601070	http://www.informatics.jax.org/searchtool/Search.do?query=IL15RA&submit=Quick%0D%6985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL15RA	rs3136618	0.536941	0.5463	0.5074	1	0	0	intronic	intronic	intronic	IL15RA	IL15RA	ENSG00000134470	Na	Na	Na	Na	Na	Na	Het;C>T	745;38|34	Hom;C>T	2235;0|83
N	N	-	10	6002368	6002368	T	G	snp	nonsynonymous SNV	A545C	N182T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	IL15RA	Il15ra	ENSG00000134470	interleukin 15 receptor subunit alpha	chr10:5990855-6020150	This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]	Alzheimer's disease ; Lymphoma, Large B-Cell, Diffuse; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; Inflammation; metabolic syndrome; lung cancer ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; lung cancer; body mass; Celiac Disease|; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; respiratory syncytial virus bronchiolitis; Hyperparathyroidism, Secondary; bladder cancer; Body Weight|Obesity|Syndrome	Mutation of this gene results in absence of NK cell production in spleen and bone marrow.	Interleukin-15 signaling	GO:0007165;signal transduction;TAS|GO:0007259;JAK-STAT cascade;IEA|GO:0008283;cell proliferation;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032825;positive regulation of natural killer cell differentiation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA	GO:0004871;signal transducer activity;TAS|GO:0004896;cytokine receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL15RA	https://www.uniprot.org/uniprot/Q13261		https://www.ncbi.nlm.nih.gov/omim/?term=601070	http://www.informatics.jax.org/searchtool/Search.do?query=IL15RA&submit=Quick%0D%6985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL15RA	rs2228059	0.550519	0.5666	0.5122	0.08	1	13	exonic	exonic	exonic	IL15RA	IL15RA	ENSG00000134470	nonsynonymous SNV	nonsynonymous SNV	unknown	IL15RA:NM_002189:exon4:c.A545C:p.N182T,IL15RA:NM_172200:exon3:c.A446C:p.N149T,IL15RA:NM_001243539:exon4:c.A437C:p.N146T,IL15RA:NM_001256765:exon5:c.A803C:p.N268T,	IL15RA:uc021pmp.1:exon2:c.A356C:p.N119T,IL15RA:uc001iiy.3:exon2:c.A89C:p.N30T,IL15RA:uc001iiv.3:exon4:c.A545C:p.N182T,IL15RA:uc001iiw.3:exon4:c.A437C:p.N146T,IL15RA:uc021pmo.1:exon5:c.A803C:p.N268T,IL15RA:uc010qau.2:exon3:c.A446C:p.N149T,	UNKNOWN	Het;T>G	2115;64|97	Hom;T>G	2849;0|99
N	N	-	10	6061781	6061781	T	C	snp	intronic	 	 	 	 	IL2RA	Il2ra	ENSG00000134460	interleukin 2 receptor subunit alpha	chr10:6052652-6104288	The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009]	Lupus Erythematosus, Systemic|Vasculitis; Arthritis, Rheumatoid|Atrial Fibrillation|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Multiple Sclerosis|Rheumatoid Arthritis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Disease Progression; Type 2 diabetes|reduced prostate cancer risk; Measles|Mumps|Rubella; asthma; Inflammation; Multiple Sclerosis; latent autoimmune diabetes; Crohn Disease|Crohn's disease; diabetes, type 1 ; Alzheimer's disease ; type 1 diabetes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hyperparathyroidism, Secondary; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Diabetes mellitus; Arthritis, Rheumatoid; Graves' disease; Infection|Inflammation|Premature Birth; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Diabetes Mellitus, Type 1|Prediabetic State; inflammatory bowel disease ; Addison Disease|; Precursor Cell Lymphoblastic Leukemia-Lymphoma; diabetes, type 1; IgE levels; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; multiple sclerosis; Celiac Disease|; Autoimmune Diseases|Thyroid Diseases; Alopecia Areata; measles vaccine immunity; Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 1; Autoimmune Diseases|melanoma|Vitiligo; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; Alopecia Areata|Autoimmune Diseases; Vitiligo; Premature Birth; Inflammation|Premature Birth; Arthritis, Juvenile Rheumatoid|; HIV; Crohn Disease; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Giant Cell Arteritis|Temporal Arteritis	Homozygotes for a targeted null mutation exhibit massive proliferation of polyclonal T and B cells as adults and develop autoimmune disorders including inflammatory bowel disease and hemolytic anemia with age.	Interleukin receptor SHC signaling	GO:0000165;MAPK cascade;TAS|GO:0002376;immune system process;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0002664;regulation of T cell tolerance induction;IMP|GO:0006915;apoptotic process;TAS|GO:0006924;activation-induced cell death of T cells;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007219;Notch signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0038110;interleukin-2-mediated signaling pathway;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0046013;regulation of T cell homeostatic proliferation;IEA|GO:0050672;negative regulation of lymphocyte proliferation;IEA|GO:0050687;negative regulation of defense response to virus;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050777;negative regulation of immune response;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004911;interleukin-2 receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0008144;drug binding;IEA|GO:0019976;interleukin-2 binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IL2RA	https://www.uniprot.org/uniprot/P01589	https://hpo.jax.org/app/browse/search?q=IL2RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147730	http://www.informatics.jax.org/searchtool/Search.do?query=IL2RA&submit=Quick%0D%6982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL2RA	rs10752175	0.808107	0.8951	0	1	0	0	intronic	intronic	intronic	IL2RA	IL2RA	ENSG00000134460	Na	Na	Na	Na	Na	Na	Het;T>C	966;27|42	Hom;T>C	2182;0|78
N	N	-	10	60933722	60933722	G	T	snp	intergenic	 	 	 	 	TRAF6P1																		rs7068644	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00844(dist=172345),PHYHIPL(dist=2626)	BICC1(dist=344877),PHYHIPL(dist=2626)	ENSG00000226557(dist=35780),ENSG00000165443(dist=2628)	Na	Na	Na	Na	Na	Na	Het;G>T	820;6|23	Hom;G>T	1652;0|46
N	N	-	10	61311293	61311293	T	C	snp	ncRNA_exonic	 	 	 	 	MRPL50P4																		rs12412495	0.120607	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FAM13C(dist=188632),SLC16A9(dist=99229)	FAM13C(dist=188632),SLC16A9(dist=99229)	ENSG00000235469	Na	Na	Na	Na	Na	Na	Het;T>C	603;19|25	Hom;T>C	884;0|33
N	N	-	10	61322295	61322295	A	G	snp	intergenic	 	 	 	 	MRPL50P4																		rs61860790	0.191494	0	0	1	0	0	intergenic	intergenic	intergenic	FAM13C(dist=199634),SLC16A9(dist=88227)	FAM13C(dist=199634),SLC16A9(dist=88227)	ENSG00000235469(dist=10659),ENSG00000235140(dist=26613)	Na	Na	Na	Na	Na	Na	Het;A>G	522;26|26	Hom;A>G	1232;0|49
N	N	-	10	61414011	61414011	G	T	snp	nonsynonymous SNV	C773A	T258K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	SLC16A9	Slc16a9	ENSG00000165449	solute carrier family 16 member 9	chr10:61410523-61495760		uric acid concentrations; Diabetes Mellitus; Hemoglobins; Gout; gout; Alzheimer's disease ; Erythrocyte Count; Metabolism; normal variation; Arteries; serum uric acid; Uric Acid	 		GO:0006810;transport;IEA|GO:0046415;urate metabolic process;IMP|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A9			https://www.ncbi.nlm.nih.gov/omim/?term=614242	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A9&submit=Quick%0D%11539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A9	rs2242206	0.345048	0.2078	0.3348	0.08	1	13	exonic	exonic	exonic	SLC16A9	SLC16A9	ENSG00000165449	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC16A9:NM_194298:exon5:c.C773A:p.T258K,	SLC16A9:uc010qig.1:exon5:c.C773A:p.T258K,	UNKNOWN	Het;G>T	2086;158|112	Hom;G>T	7147;3|273
N	N	-	10	61443808	61443808	A	G	snp	intronic	 	 	 	 	SLC16A9	Slc16a9	ENSG00000165449	solute carrier family 16 member 9	chr10:61410523-61495760		uric acid concentrations; Diabetes Mellitus; Hemoglobins; Gout; gout; Alzheimer's disease ; Erythrocyte Count; Metabolism; normal variation; Arteries; serum uric acid; Uric Acid	 		GO:0006810;transport;IEA|GO:0046415;urate metabolic process;IMP|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A9			https://www.ncbi.nlm.nih.gov/omim/?term=614242	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A9&submit=Quick%0D%11539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A9	rs1171660	0.513379	0.3720	0.4301	1	0	0	intronic	intronic	intronic	SLC16A9	SLC16A9	ENSG00000165449	Na	Na	Na	Na	Na	Na	Het;A>G	217;12|9	Hom;A>G	457;0|16
N	N	-	10	61552774	61552774	C	T	snp	synonymous SNV	G1326A	P442P	hydrophobic,neutral	hydrophobic,neutral	CCDC6	Ccdc6	ENSG00000108091	coiled-coil domain containing 6	chr10:61548521-61666414	This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]	Alcohol Drinking; thyroid cancer; Tobacco Use Disorder; Alzheimer's disease ; Arteries; Carcinoma|Thyroid Neoplasms	 		GO:0007010;cytoskeleton organization;IEA|GO:0008150;biological_process;ND	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA	GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC6	https://www.uniprot.org/uniprot/Q16204		https://www.ncbi.nlm.nih.gov/omim/?term=601985	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC6&submit=Quick%0D%3677ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC6	rs1053265	0.611621	0.6525	0.7276	1	0	0	exonic	exonic	exonic	CCDC6	CCDC6	ENSG00000108091	synonymous SNV	synonymous SNV	unknown	CCDC6:NM_005436:exon9:c.G1326A:p.P442P,	CCDC6:uc001jks.4:exon9:c.G1326A:p.P442P,	UNKNOWN	Het;C>T	1504;114|80	Hom;C>T	3908;2|153
N	N	-	10	6188591	6188591	A	G	snp	intronic	 	 	 	 	PFKFB3	Pfkfb3	ENSG00000170525	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	chr10:6186881-6277495	The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]	Depressive Disorder, Major; Alzheimer's disease ; Stroke	Homozygous null mice display embryonic lethality before E8	Glycolysis	GO:0006000;fructose metabolic process;IEA|GO:0006003;fructose 2,6-bisphosphate metabolic process;IEA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003873;6-phosphofructo-2-kinase activity;EXP|GO:0004331;fructose-2,6-bisphosphate 2-phosphatase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKFB3			https://www.ncbi.nlm.nih.gov/omim/?term=605319	http://www.informatics.jax.org/searchtool/Search.do?query=PFKFB3&submit=Quick%0D%12730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKFB3	rs7074372	0.65635	0	0	1	0	0	intronic	intronic	intronic	PFKFB3	PFKFB3	ENSG00000170525	Na	Na	Na	Na	Na	Na	Het;A>G	503;13|19	Hom;A>G	657;0|19
N	N	-	10	62199279	62199279	T	A	snp	intronic	 	 	 	 	ANK3	Ank3	ENSG00000151150	ankyrin 3	chr10:61786056-62493248	Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]	Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine	Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months.	COPI-mediated anterograde transport	GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS	GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ANK3	https://www.uniprot.org/uniprot/Q12955	https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600465	http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3	rs10994349	0.152157	0	0	1	0	0	intronic	intronic	intronic	ANK3	ANK3	ENSG00000151150	Na	Na	Na	Na	Na	Na	Het;T>A	94;2|6	Hom;T>A	354;2|17
N	N	-	10	62375033	62375033	A	G	snp	intronic	 	 	 	 	ANK3	Ank3	ENSG00000151150	ankyrin 3	chr10:61786056-62493248	Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]	Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine	Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months.	COPI-mediated anterograde transport	GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS	GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ANK3	https://www.uniprot.org/uniprot/Q12955	https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600465	http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3	rs1837947	0.130791	0	0	1	0	0	intronic	intronic	intronic	ANK3	ANK3	ENSG00000151150	Na	Na	Na	Na	Na	Na	Het;A>G	294;10|14	Hom;A>G	294;0|11
N	N	-	10	62444822	62444822	T	C	snp	ncRNA_exonic	 	 	 	 	ARL4AP1																		rs1837949	0.296326	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ANK3	ANK3	ENSG00000122872	Na	Na	Na	Na	Na	Na	Het;T>C	430;12|19	Hom;T>C	856;0|31
N	N	-	10	6262702	6262702	C	T	snp	synonymous SNV	C645T	I215I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PFKFB3	Pfkfb3	ENSG00000170525	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	chr10:6186881-6277495	The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]	Depressive Disorder, Major; Alzheimer's disease ; Stroke	Homozygous null mice display embryonic lethality before E8	Glycolysis	GO:0006000;fructose metabolic process;IEA|GO:0006003;fructose 2,6-bisphosphate metabolic process;IEA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003873;6-phosphofructo-2-kinase activity;EXP|GO:0004331;fructose-2,6-bisphosphate 2-phosphatase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKFB3			https://www.ncbi.nlm.nih.gov/omim/?term=605319	http://www.informatics.jax.org/searchtool/Search.do?query=PFKFB3&submit=Quick%0D%12730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKFB3	rs2230271	0.048722	0.0299	0.0301	1	0	0	exonic	exonic	exonic	PFKFB3	PFKFB3	ENSG00000170525	synonymous SNV	synonymous SNV	unknown	PFKFB3:NM_001282630:exon8:c.C747T:p.I249I,PFKFB3:NM_004566:exon8:c.C705T:p.I235I,PFKFB3:NM_001145443:exon8:c.C645T:p.I215I,	PFKFB3:uc001ijd.3:exon8:c.C645T:p.I215I,PFKFB3:uc001ijf.3:exon8:c.C705T:p.I235I,PFKFB3:uc001ije.3:exon8:c.C705T:p.I235I,PFKFB3:uc010qaw.2:exon8:c.C747T:p.I249I,	UNKNOWN	Het;C>T	1802;111|91	Hom;C>T	4975;0|183
N	N	-	10	6265027	6265027	G	A	snp	intronic	 	 	 	 	PFKFB3	Pfkfb3	ENSG00000170525	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	chr10:6186881-6277495	The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]	Depressive Disorder, Major; Alzheimer's disease ; Stroke	Homozygous null mice display embryonic lethality before E8	Glycolysis	GO:0006000;fructose metabolic process;IEA|GO:0006003;fructose 2,6-bisphosphate metabolic process;IEA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003873;6-phosphofructo-2-kinase activity;EXP|GO:0004331;fructose-2,6-bisphosphate 2-phosphatase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKFB3			https://www.ncbi.nlm.nih.gov/omim/?term=605319	http://www.informatics.jax.org/searchtool/Search.do?query=PFKFB3&submit=Quick%0D%12730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKFB3	rs2298102	0.0662939	0	0	1	0	0	intronic	intronic	intronic	PFKFB3	PFKFB3	ENSG00000170525	Na	Na	Na	Na	Na	Na	Het;G>A	308;26|16	Hom;G>A	783;0|29
N	N	-	10	6268422	6268422	A	G	snp	intronic	 	 	 	 	PFKFB3	Pfkfb3	ENSG00000170525	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	chr10:6186881-6277495	The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]	Depressive Disorder, Major; Alzheimer's disease ; Stroke	Homozygous null mice display embryonic lethality before E8	Glycolysis	GO:0006000;fructose metabolic process;IEA|GO:0006003;fructose 2,6-bisphosphate metabolic process;IEA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003873;6-phosphofructo-2-kinase activity;EXP|GO:0004331;fructose-2,6-bisphosphate 2-phosphatase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFKFB3			https://www.ncbi.nlm.nih.gov/omim/?term=605319	http://www.informatics.jax.org/searchtool/Search.do?query=PFKFB3&submit=Quick%0D%12730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKFB3	rs943117	0.769768	0	0	1	0	0	intronic	intronic	intronic	PFKFB3	PFKFB3	ENSG00000170525	Na	Na	Na	Na	Na	Na	Het;A>G	482;13|18	Hom;A>G	797;0|25
N	N	-	10	64136710	64136712	CAG	C	indel	intronic	 	 	 	 	ZNF365	Zfp365	ENSG00000138311	zinc finger protein 365	chr10:64133951-64431771	This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]	Crohn Disease|Crohn's disease; Crohn's disease; Inflammatory Bowel Diseases; smoking cessation; Crohn Disease; Intelligence; Tobacco Use Disorder; Alzheimer's disease ; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Erythrocytes	Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes.		GO:0000281;mitotic cytokinesis;IMP|GO:0033566;gamma-tubulin complex localization;IMP	GO:0000930;gamma-tubulin complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF365	https://www.uniprot.org/uniprot/Q70YC4	https://hpo.jax.org/app/browse/search?q=ZNF365&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607818	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF365&submit=Quick%0D%7705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF365	rs149800343	0.273363	0.3070	0.2910	1	0	0	intronic	intronic	intronic	ZNF365	ZNF365	ENSG00000138311	Na	Na	Na	Na	Na	Na	Het;-AG	540;30|18	Hom;-AG	1333;0|32
N	N	-	10	6533877	6533877	A	G	snp	intronic	 	 	 	 	PRKCQ	Prkcq	ENSG00000065675	protein kinase C theta	chr10:6469105-6622263	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]	type 1 diabetes; Jaw Abnormalities; Exercise Test; Celiac Disease|; Alzheimer Disease; Alzheimer's disease ; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Iron; diabetes, type 1 ; Blood Proteins; Coronary Artery Disease; Glucose; Arthritis, Rheumatoid|; Diabetes Mellitus, Type 1; Mental Competency; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 diabetes|reduced prostate cancer risk; Stroke; Cell Adhesion Molecules; Lipids; Hip; Arthritis, Rheumatoid|Rheumatoid Arthritis; Myocardial Infarction; Body Height; rheumatoid arthritis; Wegener's granulomatosis; Hypertension; Leprosy; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; hypertension; Body Weight; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic	Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes.	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	GO:0001558;regulation of cell growth;NAS|GO:0002376;immune system process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0007411;axon guidance;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032740;positive regulation of interleukin-17 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070233;negative regulation of T cell apoptotic process;IMP|GO:0090330;regulation of platelet aggregation;IEA|GO:0097194;execution phase of apoptosis;TAS|GO:1904355;positive regulation of telomere capping;IMP|GO:2000318;positive regulation of T-helper 17 type immune response;IEA|GO:2000570;positive regulation of T-helper 2 cell activation;IEA	GO:0001772;immunological synapse;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRKCQ	https://www.uniprot.org/uniprot/Q04759		https://www.ncbi.nlm.nih.gov/omim/?term=600448	http://www.informatics.jax.org/searchtool/Search.do?query=PRKCQ&submit=Quick%0D%1190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCQ	rs3815975	0.437899	0	0	1	0	0	intronic	intronic	intronic	PRKCQ	PRKCQ	ENSG00000065675	Na	Na	Na	Na	Na	Na	Het;A>G	902;32|39	Hom;A>G	2282;0|80
N	N	-	10	6533900	6533900	C	T	snp	intronic	 	 	 	 	PRKCQ	Prkcq	ENSG00000065675	protein kinase C theta	chr10:6469105-6622263	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]	type 1 diabetes; Jaw Abnormalities; Exercise Test; Celiac Disease|; Alzheimer Disease; Alzheimer's disease ; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Iron; diabetes, type 1 ; Blood Proteins; Coronary Artery Disease; Glucose; Arthritis, Rheumatoid|; Diabetes Mellitus, Type 1; Mental Competency; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 diabetes|reduced prostate cancer risk; Stroke; Cell Adhesion Molecules; Lipids; Hip; Arthritis, Rheumatoid|Rheumatoid Arthritis; Myocardial Infarction; Body Height; rheumatoid arthritis; Wegener's granulomatosis; Hypertension; Leprosy; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; hypertension; Body Weight; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic	Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes.	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	GO:0001558;regulation of cell growth;NAS|GO:0002376;immune system process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0007411;axon guidance;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032740;positive regulation of interleukin-17 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070233;negative regulation of T cell apoptotic process;IMP|GO:0090330;regulation of platelet aggregation;IEA|GO:0097194;execution phase of apoptosis;TAS|GO:1904355;positive regulation of telomere capping;IMP|GO:2000318;positive regulation of T-helper 17 type immune response;IEA|GO:2000570;positive regulation of T-helper 2 cell activation;IEA	GO:0001772;immunological synapse;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRKCQ	https://www.uniprot.org/uniprot/Q04759		https://www.ncbi.nlm.nih.gov/omim/?term=600448	http://www.informatics.jax.org/searchtool/Search.do?query=PRKCQ&submit=Quick%0D%1190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCQ	rs3815974	0.423522	0	0	1	0	0	intronic	intronic	intronic	PRKCQ	PRKCQ	ENSG00000065675	Na	Na	Na	Na	Na	Na	Het;C>T	493;23|21	Hom;C>T	1644;0|53
N	N	-	10	6669000	6669000	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101928150																		rs978019	0.891773	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928150	PRKCQ-AS1(dist=41677),LINC00707(dist=152560)	ENSG00000225948(dist=1692),ENSG00000223784(dist=110344)	Na	Na	Na	Na	Na	Na	Het;G>C	448;37|23	Hom;G>C	1387;0|53
N	N	-	10	6681163	6681163	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101928150																		rs1556009	0.685703	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928150	PRKCQ-AS1(dist=53840),LINC00707(dist=140397)	ENSG00000225948(dist=13855),ENSG00000223784(dist=98181)	Na	Na	Na	Na	Na	Na	Het;A>G	582;40|27	Hom;A>G	1795;0|56
N	N	-	10	6681253	6681253	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101928150																		rs1556008	0.685903	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928150	PRKCQ-AS1(dist=53930),LINC00707(dist=140307)	ENSG00000225948(dist=13945),ENSG00000223784(dist=98091)	Na	Na	Na	Na	Na	Na	Het;A>G	641;61|37	Hom;A>G	2484;0|91
N	N	-	10	6681377	6681377	T	A	snp	ncRNA_exonic	 	 	 	 	LOC101928150																		rs1556007	0.685903	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928150	PRKCQ-AS1(dist=54054),LINC00707(dist=140183)	ENSG00000225948(dist=14069),ENSG00000223784(dist=97967)	Na	Na	Na	Na	Na	Na	Het;T>A	941;51|41	Hom;T>A	2673;0|79
N	N	-	10	6681554	6681554	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101928150																		rs1998994	0.685703	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928150	PRKCQ-AS1(dist=54231),LINC00707(dist=140006)	ENSG00000225948(dist=14246),ENSG00000223784(dist=97790)	Na	Na	Na	Na	Na	Na	Het;A>G	2269;77|103	Hom;A>G	4633;0|162
N	N	-	10	6681629	6681629	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928150																		rs1998995	0.685903	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928150	PRKCQ-AS1(dist=54306),LINC00707(dist=139931)	ENSG00000225948(dist=14321),ENSG00000223784(dist=97715)	Na	Na	Na	Na	Na	Na	Het;T>C	2402;87|110	Hom;T>C	3927;0|139
N	N	-	10	68089510	68089510	T	A	snp	intronic	 	 	 	 	CTNNA3	Ctnna3	ENSG00000183230	catenin alpha 3	chr10:67672276-69455927	This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Asthma (toluene diisocyanate-induced); Asthma|Occupational Diseases; Body Weight; Alzheimer's disease; nicotine dependence; Pulse; Cholesterol; Alzheimer's disease ; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Echocardiography; Dehydroepiandrosterone; Lipoproteins, VLDL; Asthma; smoking cessation; Electrocardiography; Waist Circumference; Erythrocyte Indices; Multiple Sclerosis; Alzheimer's Disease; Tobacco Use Disorder; Parkinson Disease; Hypertrophy, Left Ventricular	Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality.		GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IPI|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005916;fascia adherens;IDA|GO:0030027;lamellipodium;IEA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0045296;cadherin binding;TAS|GO:0051015;actin filament binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CTNNA3		https://hpo.jax.org/app/browse/search?q=CTNNA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607667	http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA3&submit=Quick%0D%14946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA3	rs7918597	0.711861	0	0	1	0	0	intronic	intronic	intronic	CTNNA3	CTNNA3	ENSG00000183230	Na	Na	Na	Na	Na	Na	Het;T>A	90;7|4	Hom;T>A	193;0|6
N	N	-	10	68740296	68740296	C	T	snp	ncRNA_intronic	 	 	 	 	LOC101928961																		rs942778	0.877396	0	0	1	0	0	ncRNA_intronic	intronic	intronic	LOC101928961	CTNNA3,LRRTM3	ENSG00000183230,ENSG00000198739	Na	Na	Na	Na	Na	Na	Het;C>T	851;14|36	Hom;C>T	3267;0|71
N	N	-	10	69366602	69366602	T	C	snp	intronic	 	 	 	 	CTNNA3	Ctnna3	ENSG00000183230	catenin alpha 3	chr10:67672276-69455927	This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Asthma (toluene diisocyanate-induced); Asthma|Occupational Diseases; Body Weight; Alzheimer's disease; nicotine dependence; Pulse; Cholesterol; Alzheimer's disease ; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Echocardiography; Dehydroepiandrosterone; Lipoproteins, VLDL; Asthma; smoking cessation; Electrocardiography; Waist Circumference; Erythrocyte Indices; Multiple Sclerosis; Alzheimer's Disease; Tobacco Use Disorder; Parkinson Disease; Hypertrophy, Left Ventricular	Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality.		GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IPI|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005916;fascia adherens;IDA|GO:0030027;lamellipodium;IEA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0045296;cadherin binding;TAS|GO:0051015;actin filament binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CTNNA3		https://hpo.jax.org/app/browse/search?q=CTNNA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607667	http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA3&submit=Quick%0D%14946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA3	rs3750863	0.529952	0.4562	0.3811	1	0	0	intronic	intronic	intronic	CTNNA3	CTNNA3	ENSG00000183230	Na	Na	Na	Na	Na	Na	Het;T>C	423;2|16	Hom;T>C	913;0|31
N	N	-	10	69902549	69902549	T	C	snp	intronic	 	 	 	 	MYPN	Mypn	ENSG00000138347	myopalladin	chr10:69865912-69971774	Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	smoking cessation; Tobacco Use Disorder; Alzheimer's disease ; Optic Nerve	Mice homozygous for a nonsense mutation exhibit Z-streaming and nemaline-like bodies in skeletal muscle, suggesting the presence of mild nemaline-like myopathy.		GO:0030334;regulation of cell migration;IBA|GO:0045214;sarcomere organization;IMP|GO:0048739;cardiac muscle fiber development;IBA|GO:0051493;regulation of cytoskeleton organization;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0017124;SH3 domain binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYPN	https://www.uniprot.org/uniprot/Q86TC9	https://hpo.jax.org/app/browse/search?q=MYPN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608517	http://www.informatics.jax.org/searchtool/Search.do?query=MYPN&submit=Quick%0D%7710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYPN	rs3814180	0.496605	0	0	1	0	0	intronic	intronic	intronic	MYPN	MYPN	ENSG00000138347	Na	Na	Na	Na	Na	Na	Het;T>C	42;2|2	Hom;T>C	126;0|4
N	N	-	10	69926097	69926097	T	C	snp	synonymous SNV	T1647C	S549S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MYPN	Mypn	ENSG00000138347	myopalladin	chr10:69865912-69971774	Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	smoking cessation; Tobacco Use Disorder; Alzheimer's disease ; Optic Nerve	Mice homozygous for a nonsense mutation exhibit Z-streaming and nemaline-like bodies in skeletal muscle, suggesting the presence of mild nemaline-like myopathy.		GO:0030334;regulation of cell migration;IBA|GO:0045214;sarcomere organization;IMP|GO:0048739;cardiac muscle fiber development;IBA|GO:0051493;regulation of cytoskeleton organization;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0017124;SH3 domain binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYPN	https://www.uniprot.org/uniprot/Q86TC9	https://hpo.jax.org/app/browse/search?q=MYPN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608517	http://www.informatics.jax.org/searchtool/Search.do?query=MYPN&submit=Quick%0D%7710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYPN	rs2673794	0.482628	0.5787	0.6227	1	0	0	exonic	exonic	exonic	MYPN	MYPN	ENSG00000138347	synonymous SNV	synonymous SNV	unknown	MYPN:NM_001256268:exon14:c.T765C:p.S255S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_032578:exon10:c.T1647C:p.S549S,	MYPN:uc001jnm.5:exon11:c.T1647C:p.S549S,MYPN:uc009xps.3:exon10:c.T1647C:p.S549S,MYPN:uc009xpt.3:exon10:c.T1647C:p.S549S,MYPN:uc001jnl.2:exon12:c.T1647C:p.S549S,MYPN:uc001jno.4:exon10:c.T1647C:p.S549S,MYPN:uc001jnn.5:exon10:c.T822C:p.S274S,MYPN:uc010qit.3:exon14:c.T765C:p.S255S,	UNKNOWN	Het;T>C	1029;42|46	Hom;T>C	2250;0|83
N	N	-	10	69926319	69926319	C	A	snp	synonymous SNV	C1869A	T623T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MYPN	Mypn	ENSG00000138347	myopalladin	chr10:69865912-69971774	Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	smoking cessation; Tobacco Use Disorder; Alzheimer's disease ; Optic Nerve	Mice homozygous for a nonsense mutation exhibit Z-streaming and nemaline-like bodies in skeletal muscle, suggesting the presence of mild nemaline-like myopathy.		GO:0030334;regulation of cell migration;IBA|GO:0045214;sarcomere organization;IMP|GO:0048739;cardiac muscle fiber development;IBA|GO:0051493;regulation of cytoskeleton organization;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0017124;SH3 domain binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYPN	https://www.uniprot.org/uniprot/Q86TC9	https://hpo.jax.org/app/browse/search?q=MYPN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608517	http://www.informatics.jax.org/searchtool/Search.do?query=MYPN&submit=Quick%0D%7710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYPN	rs61854624	0.116613	0.1261	0.1565	1	0	0	exonic	exonic	exonic	MYPN	MYPN	ENSG00000138347	synonymous SNV	synonymous SNV	unknown	MYPN:NM_001256268:exon14:c.C987A:p.T329T,MYPN:NM_001256267:exon11:c.C1869A:p.T623T,MYPN:NM_032578:exon10:c.C1869A:p.T623T,	MYPN:uc001jnm.5:exon11:c.C1869A:p.T623T,MYPN:uc009xps.3:exon10:c.C1869A:p.T623T,MYPN:uc009xpt.3:exon10:c.C1869A:p.T623T,MYPN:uc001jnl.2:exon12:c.C1869A:p.T623T,MYPN:uc001jno.4:exon10:c.C1869A:p.T623T,MYPN:uc001jnn.5:exon10:c.C1044A:p.T348T,MYPN:uc010qit.3:exon14:c.C987A:p.T329T,	UNKNOWN	Het;C>A	2416;71|67	Hom;C>A	4443;4|107
N	N	-	10	69926325	69926325	C	T	snp	synonymous SNV	C1875T	P625P	hydrophobic,neutral	hydrophobic,neutral	MYPN	Mypn	ENSG00000138347	myopalladin	chr10:69865912-69971774	Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	smoking cessation; Tobacco Use Disorder; Alzheimer's disease ; Optic Nerve	Mice homozygous for a nonsense mutation exhibit Z-streaming and nemaline-like bodies in skeletal muscle, suggesting the presence of mild nemaline-like myopathy.		GO:0030334;regulation of cell migration;IBA|GO:0045214;sarcomere organization;IMP|GO:0048739;cardiac muscle fiber development;IBA|GO:0051493;regulation of cytoskeleton organization;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0017124;SH3 domain binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYPN	https://www.uniprot.org/uniprot/Q86TC9	https://hpo.jax.org/app/browse/search?q=MYPN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608517	http://www.informatics.jax.org/searchtool/Search.do?query=MYPN&submit=Quick%0D%7710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYPN	rs2673793	0.157748	0.1723	0.1809	1	0	0	exonic	exonic	exonic	MYPN	MYPN	ENSG00000138347	synonymous SNV	synonymous SNV	unknown	MYPN:NM_001256268:exon14:c.C993T:p.P331P,MYPN:NM_001256267:exon11:c.C1875T:p.P625P,MYPN:NM_032578:exon10:c.C1875T:p.P625P,	MYPN:uc001jnm.5:exon11:c.C1875T:p.P625P,MYPN:uc009xps.3:exon10:c.C1875T:p.P625P,MYPN:uc009xpt.3:exon10:c.C1875T:p.P625P,MYPN:uc001jnl.2:exon12:c.C1875T:p.P625P,MYPN:uc001jno.4:exon10:c.C1875T:p.P625P,MYPN:uc001jnn.5:exon10:c.C1050T:p.P350P,MYPN:uc010qit.3:exon14:c.C993T:p.P331P,	UNKNOWN	Het;C>T	2297;71|62	Hom;C>T	4517;6|109
N	N	-	10	70045264	70045264	A	C	snp	intronic	 	 	 	 	PBLD	Pbld1	ENSG00000108187	phenazine biosynthesis like protein domain containing	chr10:70042417-70092806		Exercise Test; Alzheimer's disease 	 		GO:0009058;biosynthetic process;IEA|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0010719;negative regulation of epithelial to mesenchymal transition;IMP|GO:0030277;maintenance of gastrointestinal epithelium;IMP|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IMP|GO:0060392;negative regulation of SMAD protein import into nucleus;IGI|GO:0060394;negative regulation of pathway-restricted SMAD protein phosphorylation;IMP	GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PBLD	https://www.uniprot.org/uniprot/P30039		https://www.ncbi.nlm.nih.gov/omim/?term=612189	http://www.informatics.jax.org/searchtool/Search.do?query=PBLD&submit=Quick%0D%3685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PBLD	rs3816299	0.661542	0	0	1	0	0	intronic	intronic	intronic	PBLD	PBLD	ENSG00000108187	Na	Na	Na	Na	Na	Na	Het;A>C	370;9|12	Hom;A>C	521;0|13
N	N	-	10	70477163	70477163	T	G	snp	ncRNA_exonic	 	 	 	 	AL513534.2																		rs1694344	0.64357	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TET1(dist=22924),CCAR1(dist=3738)	TET1(dist=22924),CCAR1(dist=3808)	ENSG00000270494	Na	Na	Na	Na	Na	Na	Het;T>G	170;1|7	Hom;T>G	120;0|6
N	N	-	10	70976339	70976339	T	G	snp	ncRNA_exonic	 	 	 	 	LOC101928994																		rs5030939	0.101637	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928994	SUPV3L1(dist=7490),HKDC1(dist=3720)	ENSG00000229261	Na	Na	Na	Na	Na	Na	Het;T>G	1278;105|65	Hom;T>G	4657;1|175
N	N	-	10	70985663	70985663	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101928994																		rs5030944	0.102835	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101928994	HKDC1	ENSG00000229261	Na	Na	Na	Na	Na	Na	Het;G>A	1674;89|84	Hom;G>A	4256;0|161
N	N	-	10	70992046	70992046	G	A	snp	ncRNA_intronic	 	 	 	 	LOC101928994																		rs4746827	0.365216	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101928994	HKDC1	ENSG00000229261	Na	Na	Na	Na	Na	Na	Het;G>A	239;15|10	Hom;G>A	823;0|27
N	N	-	10	70992250	70992250	C	T	snp	intronic	 	 	 	 	HKDC1	Hkdc1	ENSG00000156510	hexokinase domain containing 1	chr10:70980059-71027315	This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]	Alzheimer's disease ; Tobacco Use Disorder; ADHD; longevity; Neuroblastoma	Mice homozygous for a knock-out allele exhibit lethality prior to genotyping. Mice heterozygous for a knock-out allele exhibit impaired glucose tolerance and female-specific increased in hepatic triglyceride levels.		GO:0001678;cellular glucose homeostasis;IBA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA	GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IBA	GO:0000166;nucleotide binding;IEA|GO:0004340;glucokinase activity;IBA|GO:0004396;hexokinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HKDC1	https://www.uniprot.org/uniprot/Q2TB90		https://www.ncbi.nlm.nih.gov/omim/?term=617221	http://www.informatics.jax.org/searchtool/Search.do?query=HKDC1&submit=Quick%0D%9994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HKDC1	rs4746828	0.438898	0	0	1	0	0	intronic	intronic	intronic	HKDC1	HKDC1	ENSG00000156510	Na	Na	Na	Na	Na	Na	Het;C>T	1246;38|57	Hom;C>T	2466;2|93
N	N	-	10	71060610	71060610	A	G	snp	nonsynonymous SNV	A20G	H7R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	HK1	Hk1	ENSG00000156515	hexokinase 1	chr10:71029740-71161638	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]	ADHD; Diabetes Mellitus, Type 2; Alzheimer's disease ; Hematocrit; glycated hemoglobin levels; Hemoglobin A, Glycosylated; Acquired Immunodeficiency Syndrome|Disease Progression; hematocrit; Erythrocyte Indices; Diabetes Mellitus, Type 2|Obesity; Tobacco Use Disorder; hemoglobin	Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility.	Glycolysis	GO:0001678;cellular glucose homeostasis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA|GO:0097228;sperm principal piece;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK1	https://www.uniprot.org/uniprot/P19367	https://hpo.jax.org/app/browse/search?q=HK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142600	http://www.informatics.jax.org/searchtool/Search.do?query=HK1&submit=Quick%0D%9995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK1	rs906220	0.90635	0.8972	0.9102	0.08	1	12	exonic	exonic	exonic	HK1	HK1	ENSG00000156515	nonsynonymous SNV	nonsynonymous SNV	unknown	HK1:NM_033500:exon5:c.A20G:p.H7R,	HK1:uc001jpg.4:exon5:c.A20G:p.H7R,	UNKNOWN	Het;A>G	487;41|24	Hom;A>G	3171;0|74
N	N	-	10	71060634	71060634	G	A	snp	intronic	 	 	 	 	HK1	Hk1	ENSG00000156515	hexokinase 1	chr10:71029740-71161638	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]	ADHD; Diabetes Mellitus, Type 2; Alzheimer's disease ; Hematocrit; glycated hemoglobin levels; Hemoglobin A, Glycosylated; Acquired Immunodeficiency Syndrome|Disease Progression; hematocrit; Erythrocyte Indices; Diabetes Mellitus, Type 2|Obesity; Tobacco Use Disorder; hemoglobin	Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility.	Glycolysis	GO:0001678;cellular glucose homeostasis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA|GO:0097228;sperm principal piece;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK1	https://www.uniprot.org/uniprot/P19367	https://hpo.jax.org/app/browse/search?q=HK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142600	http://www.informatics.jax.org/searchtool/Search.do?query=HK1&submit=Quick%0D%9995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK1	rs906221	0.90655	0.8976	0.9094	1	0	0	intronic	intronic	intronic	HK1	HK1	ENSG00000156515	Na	Na	Na	Na	Na	Na	Het;G>A	436;33|22	Hom;G>A	2517;0|56
N	N	-	10	71060696	71060696	G	A	snp	intronic	 	 	 	 	HK1	Hk1	ENSG00000156515	hexokinase 1	chr10:71029740-71161638	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]	ADHD; Diabetes Mellitus, Type 2; Alzheimer's disease ; Hematocrit; glycated hemoglobin levels; Hemoglobin A, Glycosylated; Acquired Immunodeficiency Syndrome|Disease Progression; hematocrit; Erythrocyte Indices; Diabetes Mellitus, Type 2|Obesity; Tobacco Use Disorder; hemoglobin	Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility.	Glycolysis	GO:0001678;cellular glucose homeostasis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA|GO:0097228;sperm principal piece;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK1	https://www.uniprot.org/uniprot/P19367	https://hpo.jax.org/app/browse/search?q=HK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142600	http://www.informatics.jax.org/searchtool/Search.do?query=HK1&submit=Quick%0D%9995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK1	rs906222	0.90615	0.8962	0	1	0	0	intronic	intronic	intronic	HK1	HK1	ENSG00000156515	Na	Na	Na	Na	Na	Na	Het;G>A	202;11|10	Hom;G>A	663;0|19
N	N	-	10	71060707	71060707	T	A	snp	intronic	 	 	 	 	HK1	Hk1	ENSG00000156515	hexokinase 1	chr10:71029740-71161638	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]	ADHD; Diabetes Mellitus, Type 2; Alzheimer's disease ; Hematocrit; glycated hemoglobin levels; Hemoglobin A, Glycosylated; Acquired Immunodeficiency Syndrome|Disease Progression; hematocrit; Erythrocyte Indices; Diabetes Mellitus, Type 2|Obesity; Tobacco Use Disorder; hemoglobin	Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility.	Glycolysis	GO:0001678;cellular glucose homeostasis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA|GO:0097228;sperm principal piece;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK1	https://www.uniprot.org/uniprot/P19367	https://hpo.jax.org/app/browse/search?q=HK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142600	http://www.informatics.jax.org/searchtool/Search.do?query=HK1&submit=Quick%0D%9995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK1	rs906223	0.901957	0	0	1	0	0	intronic	intronic	intronic	HK1	HK1	ENSG00000156515	Na	Na	Na	Na	Na	Na	Het;T>A	182;10|7	Hom;T>A	422;0|10
N	N	-	10	71464358	71464359	CT	C	indel	intergenic	 	 	 	 	AL450311.1																		rs34546898	0.693091	0	0	1	0	0	intergenic	intergenic	intergenic	C10orf35(dist=71003),COL13A1(dist=97285)	C10orf35(dist=71003),COL13A1(dist=97285)	ENSG00000235645(dist=12150),ENSG00000230469(dist=74359)	Na	Na	Na	Na	Na	Na	Het;-T	77;5|4	Hom;-T	210;0|7
N	N	-	10	71492976	71492976	G	T	snp	intergenic	 	 	 	 	AL450311.1																		rs2394589	0.443291	0	0	1	0	0	intergenic	intergenic	intergenic	C10orf35(dist=99621),COL13A1(dist=68668)	C10orf35(dist=99621),COL13A1(dist=68668)	ENSG00000235645(dist=40768),ENSG00000230469(dist=45742)	Na	Na	Na	Na	Na	Na	Het;G>T	263;1|11	Hom;G>T	552;0|21
N	N	-	10	71880858	71880858	A	G	snp	nonsynonymous SNV	T404C	M135T	hydrophobic,neutral	polar,hydrophilic,neutral	AIFM2	Aifm2	ENSG00000042286	apoptosis inducing factor, mitochondria associated 2	chr10:71857979-71892690	This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]	ovarian cancer ; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous null mice display reduced sensitivity to genotoxin induced cellular growth inhibition but have no change in spontaneous or induced tumor incidence.	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release	GO:0006915;apoptotic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003677;DNA binding;IDA|GO:0004174;electron-transferring-flavoprotein dehydrogenase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM2	https://www.uniprot.org/uniprot/Q9BRQ8		https://www.ncbi.nlm.nih.gov/omim/?term=605159	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM2&submit=Quick%0D%832ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM2	rs10999147	0.0928514	0.0666	0.0887	0.46	6	13	exonic	exonic	exonic	AIFM2	AIFM2	ENSG00000042286	nonsynonymous SNV	nonsynonymous SNV	unknown	AIFM2:NM_001198696:exon4:c.T404C:p.M135T,AIFM2:NM_032797:exon4:c.T404C:p.M135T,	AIFM2:uc010qjg.2:exon3:c.T404C:p.M135T,AIFM2:uc021psi.1:exon4:c.T404C:p.M135T,AIFM2:uc001jqp.2:exon4:c.T404C:p.M135T,	UNKNOWN	Het;A>G	729;41|35	Hom;A>G	1128;4|49
N	N	-	10	72195844	72195844	T	G	snp	UTR3	*317T>G	 	 	 	ENSG00000197604																		rs7909303	0.159545	0	0	1	0	0	intronic	intronic	UTR3	NODAL	NODAL	ENSG00000197604(ENST00000420338:c.*317T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	157;5|6	Hom;T>G	255;0|7
N	N	-	10	7230524	7230524	G	T	snp	intronic	 	 	 	 	SFMBT2	Sfmbt2	ENSG00000198879	Scm-like with four mbt domains 2	chr10:7200586-7453450		Metabolism; Lupus Erythematosus, Systemic; Stroke	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IDA	GO:0005634;nucleus;IDA|GO:0016235;aggresome;IDA|GO:0016607;nuclear speck;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFMBT2			https://www.ncbi.nlm.nih.gov/omim/?term=615392	http://www.informatics.jax.org/searchtool/Search.do?query=SFMBT2&submit=Quick%0D%17057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFMBT2	rs2462712	0.513778	0	0	1	0	0	intronic	intronic	intronic	SFMBT2	SFMBT2	ENSG00000198879	Na	Na	Na	Na	Na	Na	Het;G>T	113;3|6	Hom;G>T	409;0|15
N	N	-	10	7230824	7230824	A	C	snp	intronic	 	 	 	 	SFMBT2	Sfmbt2	ENSG00000198879	Scm-like with four mbt domains 2	chr10:7200586-7453450		Metabolism; Lupus Erythematosus, Systemic; Stroke	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IDA	GO:0005634;nucleus;IDA|GO:0016235;aggresome;IDA|GO:0016607;nuclear speck;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFMBT2			https://www.ncbi.nlm.nih.gov/omim/?term=615392	http://www.informatics.jax.org/searchtool/Search.do?query=SFMBT2&submit=Quick%0D%17057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFMBT2	rs2762607	0.304113	0	0	1	0	0	intronic	intronic	intronic	SFMBT2	SFMBT2	ENSG00000198879	Na	Na	Na	Na	Na	Na	Het;A>C	201;3|9	Hom;A>C	439;0|17
N	N	-	10	7239386	7239386	C	T	snp	intronic	 	 	 	 	SFMBT2	Sfmbt2	ENSG00000198879	Scm-like with four mbt domains 2	chr10:7200586-7453450		Metabolism; Lupus Erythematosus, Systemic; Stroke	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IDA	GO:0005634;nucleus;IDA|GO:0016235;aggresome;IDA|GO:0016607;nuclear speck;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFMBT2			https://www.ncbi.nlm.nih.gov/omim/?term=615392	http://www.informatics.jax.org/searchtool/Search.do?query=SFMBT2&submit=Quick%0D%17057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFMBT2	rs2762604	0.248602	0	0	1	0	0	intronic	intronic	intronic	SFMBT2	SFMBT2	ENSG00000198879	Na	Na	Na	Na	Na	Na	Het;C>T	203;3|8	Hom;C>T	357;0|11
N	N	-	10	72492244	72492244	A	C	snp	intronic	 	 	 	 	ADAMTS14	Adamts14	ENSG00000138316	ADAM metallopeptidase with thrombospondin type 1 motif 14	chr10:72432559-72522197	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]	Tobacco Use Disorder; Bipolar Disorder; Amyotrophic Lateral Sclerosis; multiple sclerosis; Body Weight; Prion Diseases; Alzheimer's disease 	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS14	https://www.uniprot.org/uniprot/Q8WXS8		https://www.ncbi.nlm.nih.gov/omim/?term=607506	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS14&submit=Quick%0D%7707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS14	rs10740357	0.650559	0	0	1	0	0	intronic	intronic	intronic	ADAMTS14	ADAMTS14	ENSG00000138316	Na	Na	Na	Na	Na	Na	Het;A>C	212;17|9	Hom;A>C	715;0|24
N	N	-	10	72493876	72493876	T	C	snp	UTR5	-1128T>C	 	 	 	ADAMTS14	Adamts14	ENSG00000138316	ADAM metallopeptidase with thrombospondin type 1 motif 14	chr10:72432559-72522197	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]	Tobacco Use Disorder; Bipolar Disorder; Amyotrophic Lateral Sclerosis; multiple sclerosis; Body Weight; Prion Diseases; Alzheimer's disease 	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS14	https://www.uniprot.org/uniprot/Q8WXS8		https://www.ncbi.nlm.nih.gov/omim/?term=607506	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS14&submit=Quick%0D%7707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS14	rs10740358	0.820487	0	0	1	0	0	intronic	UTR5	intronic	ADAMTS14	ADAMTS14(uc001jri.1:c.-1128T>C)	ENSG00000138316	Na	Na	Na	Na	Na	Na	Het;T>C	300;18|15	Hom;T>C	832;0|28
N	N	-	10	72494308	72494308	T	C	snp	intronic	 	 	 	 	ADAMTS14	Adamts14	ENSG00000138316	ADAM metallopeptidase with thrombospondin type 1 motif 14	chr10:72432559-72522197	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]	Tobacco Use Disorder; Bipolar Disorder; Amyotrophic Lateral Sclerosis; multiple sclerosis; Body Weight; Prion Diseases; Alzheimer's disease 	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS14	https://www.uniprot.org/uniprot/Q8WXS8		https://www.ncbi.nlm.nih.gov/omim/?term=607506	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS14&submit=Quick%0D%7707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS14	rs7898780	0.266573	0	0	1	0	0	intronic	intronic	intronic	ADAMTS14	ADAMTS14	ENSG00000138316	Na	Na	Na	Na	Na	Na	Het;T>C	73;4|4	Hom;T>C	130;0|6
N	N	-	10	72535007	72535007	C	T	snp	nonsynonymous SNV	G710A	R237Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	TBATA	Tbata	ENSG00000166220	thymus, brain and testes associated	chr10:72530995-72545157	This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease ; multiple sclerosis	Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TBATA			https://www.ncbi.nlm.nih.gov/omim/?term=612640	http://www.informatics.jax.org/searchtool/Search.do?query=TBATA&submit=Quick%0D%11731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBATA	rs2254174	0.771565	0.8635	0.8245	0.15	2	13	exonic	exonic	exonic	TBATA	TBATA	ENSG00000166220	nonsynonymous SNV	nonsynonymous SNV	unknown	TBATA:NM_152710:exon8:c.G710A:p.R237Q,	TBATA:uc010qjn.1:exon8:c.G707A:p.R236Q,TBATA:uc001jrj.1:exon8:c.G710A:p.R237Q,TBATA:uc010qjm.1:exon8:c.G713A:p.R238Q,	UNKNOWN	Het;C>T	1121;80|57	Hom;C>T	2303;2|94
N	N	-	10	72614421	72614421	T	C	snp	intronic	 	 	 	 	SGPL1	Sgpl1	ENSG00000166224	sphingosine-1-phosphate lyase 1	chr10:72575717-72640930		Alzheimer's disease ; Alzheimer's disease; Hemoglobins	Mice homozygous for a gene trapped allele exhibit premature death, skeletal and craniofacial defects, kidney defects, hematopoietic defects, decreased body weight and abnormal cell migration.	Sphingolipid de novo biosynthesis	GO:0001553;luteinization;IEA|GO:0001570;vasculogenesis;IEA|GO:0001822;kidney development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006672;ceramide metabolic process;IDA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0007283;spermatogenesis;IEA|GO:0008209;androgen metabolic process;IEA|GO:0008210;estrogen metabolic process;IEA|GO:0008585;female gonad development;IEA|GO:0009791;post-embryonic development;IEA|GO:0010761;fibroblast migration;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0030097;hemopoiesis;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030149;sphingolipid catabolic process;IDA|GO:0033327;Leydig cell differentiation;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA|GO:0097190;apoptotic signaling pathway;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;NAS	GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0008117;sphinganine-1-phosphate aldolase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SGPL1		https://hpo.jax.org/app/browse/search?q=SGPL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603729	http://www.informatics.jax.org/searchtool/Search.do?query=SGPL1&submit=Quick%0D%11732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGPL1	rs2171157	0.380791	0.3371	0.3913	1	0	0	intronic	intronic	intronic	SGPL1	SGPL1	ENSG00000166224	Na	Na	Na	Na	Na	Na	Het;T>C	767;27|35	Hom;T>C	1363;2|49
N	N	-	10	72648422	72648422	G	T	snp	UTR5	-132C>A	 	 	 	PCBD1	Pcbd1	ENSG00000166228	pterin-4 alpha-carbinolamine dehydratase 1	chr10:72642037-72648541	This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	diabetes, type 2; beta-cell function; Alzheimer's disease ; Iron; obesity; Diabetic Nephropathies; Autism; Dystonic Disorders	Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation.	Phenylalanine and tyrosine catabolism	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006558;L-phenylalanine metabolic process;IEA|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0043496;regulation of protein homodimerization activity;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003713;transcription coactivator activity;TAS|GO:0004505;phenylalanine 4-monooxygenase activity;IEA|GO:0005515;protein binding;IPI|GO:0008124;4-alpha-hydroxytetrahydrobiopterin dehydratase activity;EXP|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PCBD1		https://hpo.jax.org/app/browse/search?q=PCBD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126090	http://www.informatics.jax.org/searchtool/Search.do?query=PCBD1&submit=Quick%0D%11735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCBD1	rs2630336	0.38099	0	0	1	0	0	UTR5	UTR5	UTR5	PCBD1(NM_000281:c.-132C>A)	PCBD1(uc001jrn.1:c.-132C>A)	ENSG00000166228(ENST00000299299:c.-132C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	838;44|42	Hom;G>T	2395;0|90
N	N	-	10	73406504	73406504	T	C	snp	synonymous SNV	T1573C	L525L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CDH23	Cdh23	ENSG00000107736	cadherin related 23	chr10:73156691-73575702	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]	Waist Circumference; Alzheimer's disease ; Insulin; Hip; personality; usher syndrome; Tobacco Use Disorder; Usher syndrome; hearing loss, noise induced; Retinal Diseases; Myocardial Infarction; Asthma; smoking	Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.		GO:0006816;calcium ion transport;IMP|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0060122;inner ear receptor stereocilium organization;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH23	https://www.uniprot.org/uniprot/Q9H251	https://hpo.jax.org/app/browse/search?q=CDH23&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605516	http://www.informatics.jax.org/searchtool/Search.do?query=CDH23&submit=Quick%0D%3629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH23	rs2305209	0.120607	0.1498	0.1521	1	0	0	exonic	exonic	exonic	CDH23	CDH23	ENSG00000107736	synonymous SNV	synonymous SNV	unknown	CDH23:NM_052836:exon13:c.T1579C:p.L527L,	CDH23:uc001jrw.4:exon13:c.T1573C:p.L525L,CDH23:uc021psl.1:exon13:c.T1579C:p.L527L,	UNKNOWN	Het;T>C	946;42|37	Hom;T>C	2131;2|71
N	N	-	10	73569749	73569749	C	T	snp	synonymous SNV	C8886T	P2962P	hydrophobic,neutral	hydrophobic,neutral	CDH23	Cdh23	ENSG00000107736	cadherin related 23	chr10:73156691-73575702	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]	Waist Circumference; Alzheimer's disease ; Insulin; Hip; personality; usher syndrome; Tobacco Use Disorder; Usher syndrome; hearing loss, noise induced; Retinal Diseases; Myocardial Infarction; Asthma; smoking	Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.		GO:0006816;calcium ion transport;IMP|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0060122;inner ear receptor stereocilium organization;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH23	https://www.uniprot.org/uniprot/Q9H251	https://hpo.jax.org/app/browse/search?q=CDH23&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605516	http://www.informatics.jax.org/searchtool/Search.do?query=CDH23&submit=Quick%0D%3629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH23	rs11000009	0.0808706	0.1160	0.1141	1	0	0	exonic	exonic	exonic	CDH23	CDH23	ENSG00000107736	synonymous SNV	synonymous SNV	unknown	CDH23:NM_022124:exon59:c.C8895T:p.P2965P,CDH23:NM_001171933:exon14:c.C2175T:p.P725P,CDH23:NM_001171934:exon14:c.C2175T:p.P725P,	CDH23:uc001jrx.4:exon59:c.C8886T:p.P2962P,CDH23:uc001jsg.4:exon14:c.C2175T:p.P725P,CDH23:uc001jsi.4:exon13:c.C2175T:p.P725P,CDH23:uc001jsh.4:exon14:c.C2175T:p.P725P,	UNKNOWN	Het;C>T	1962;78|89	Hom;C>T	3347;0|121
N	N	-	10	73571521	73571521	G	A	snp	intronic	 	 	 	 	CDH23	Cdh23	ENSG00000107736	cadherin related 23	chr10:73156691-73575702	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]	Waist Circumference; Alzheimer's disease ; Insulin; Hip; personality; usher syndrome; Tobacco Use Disorder; Usher syndrome; hearing loss, noise induced; Retinal Diseases; Myocardial Infarction; Asthma; smoking	Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.		GO:0006816;calcium ion transport;IMP|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0060122;inner ear receptor stereocilium organization;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH23	https://www.uniprot.org/uniprot/Q9H251	https://hpo.jax.org/app/browse/search?q=CDH23&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605516	http://www.informatics.jax.org/searchtool/Search.do?query=CDH23&submit=Quick%0D%3629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH23	rs11000013	0.0788738	0.1109	0.1509	1	0	0	intronic	intronic	intronic	CDH23	CDH23	ENSG00000107736	Na	Na	Na	Na	Na	Na	Het;G>A	315;25|18	Hom;G>A	1730;0|65
N	N	-	10	73581601	73581601	C	A	snp	intronic	 	 	 	 	PSAP	Psap	ENSG00000197746	prosaposin	chr10:73576055-73611126	This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]	Schizophrenia; Tobacco Use Disorder; Alzheimer's disease ; prostate cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney.	Neutrophil degranulation	GO:0002576;platelet degranulation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006869;lipid transport;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0010506;regulation of autophagy;TAS|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043408;regulation of MAPK cascade;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0048589;developmental growth;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA|GO:0071310;cellular response to organic substance;IEA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IEA|GO:1905572;ganglioside GM1 transport to membrane;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0001664;G-protein coupled receptor binding;IBA|GO:0004565;beta-galactosidase activity;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008047;enzyme activator activity;TAS|GO:0008289;lipid binding;TAS|GO:0042803;protein homodimerization activity;IDA|GO:1905573;ganglioside GM1 binding;IDA|GO:1905574;ganglioside GM2 binding;IDA|GO:1905575;ganglioside GM3 binding;IDA|GO:1905576;ganglioside GT1b binding;IDA|GO:1905577;ganglioside GP1c binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PSAP		https://hpo.jax.org/app/browse/search?q=PSAP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176801	http://www.informatics.jax.org/searchtool/Search.do?query=PSAP&submit=Quick%0D%16703ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAP	rs41307569	0.0443291	0.0692	0.0711	1	0	0	intronic	intronic	intronic	PSAP	PSAP	ENSG00000197746	Na	Na	Na	Na	Na	Na	Het;C>A	317;22|15	Hom;C>A	1978;0|72
N	N	-	10	73856984	73856984	A	G	snp	UTR3	*108T>C	 	 	 	ASCC1	Ascc1	ENSG00000138303	activating signal cointegrator 1 complex subunit 1	chr10:73856278-73976892	This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	healthy oldest-old; Alzheimer's disease 	 	ALKBH3 mediated reversal of alkylation damage	GO:0006307;DNA dealkylation involved in DNA repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0031594;neuromuscular junction;IMP	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ASCC1	https://www.uniprot.org/uniprot/Q8N9N2	https://hpo.jax.org/app/browse/search?q=ASCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614215	http://www.informatics.jax.org/searchtool/Search.do?query=ASCC1&submit=Quick%0D%7703ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASCC1	rs3312	0.469649	0	0.4641	1	0	0	UTR3	UTR3	UTR3	ASCC1(NM_001198799:c.*260T>C,NM_001198798:c.*108T>C,NM_001198800:c.*108T>C)	ASCC1(uc001jsr.2:c.*217T>C,uc021pso.1:c.*108T>C,uc001jst.2:c.*260T>C,uc001jsu.2:c.*108T>C,uc010qju.2:c.*108T>C)	ENSG00000138303(ENST00000394919:c.*108T>C,ENST00000317168:c.*108T>C,ENST00000342444:c.*260T>C,ENST00000486689:c.*217T>C,ENST00000530394:c.*217T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1447;81|66	Hom;A>G	3745;0|134
N	N	-	10	73862032	73862032	C	T	snp	intronic	 	 	 	 	ASCC1	Ascc1	ENSG00000138303	activating signal cointegrator 1 complex subunit 1	chr10:73856278-73976892	This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	healthy oldest-old; Alzheimer's disease 	 	ALKBH3 mediated reversal of alkylation damage	GO:0006307;DNA dealkylation involved in DNA repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0031594;neuromuscular junction;IMP	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ASCC1	https://www.uniprot.org/uniprot/Q8N9N2	https://hpo.jax.org/app/browse/search?q=ASCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614215	http://www.informatics.jax.org/searchtool/Search.do?query=ASCC1&submit=Quick%0D%7703ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASCC1	rs1668154	0.276158	0	0	1	0	0	intronic	intronic	intronic	ASCC1	ASCC1	ENSG00000138303	Na	Na	Na	Na	Na	Na	Het;C>T	127;5|6	Hom;C>T	325;0|12
N	N	-	10	73970451	73970451	G	T	snp	intronic	 	 	 	 	ASCC1	Ascc1	ENSG00000138303	activating signal cointegrator 1 complex subunit 1	chr10:73856278-73976892	This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	healthy oldest-old; Alzheimer's disease 	 	ALKBH3 mediated reversal of alkylation damage	GO:0006307;DNA dealkylation involved in DNA repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0031594;neuromuscular junction;IMP	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ASCC1	https://www.uniprot.org/uniprot/Q8N9N2	https://hpo.jax.org/app/browse/search?q=ASCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614215	http://www.informatics.jax.org/searchtool/Search.do?query=ASCC1&submit=Quick%0D%7703ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASCC1	rs7069703	0.31889	0.4375	0.4430	1	0	0	intronic	intronic	intronic	ASCC1	ASCC1	ENSG00000138303	Na	Na	Na	Na	Na	Na	Het;G>T	320;7|15	Hom;G>T	523;0|20
N	N	-	10	74100642	74100642	G	A	snp	intronic	 	 	 	 	DNAJB12	Dnajb12	ENSG00000148719	DnaJ heat shock protein family (Hsp40) member B12	chr10:74092588-74114988	DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]		 		GO:0036503;ERAD pathway;IDA|GO:0043623;cellular protein complex assembly;IDA|GO:0051085;chaperone mediated protein folding requiring cofactor;IDA|GO:0070389;chaperone cofactor-dependent protein refolding;IDA|GO:0071218;cellular response to misfolded protein;IDA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0031965;nuclear membrane;IEA	GO:0030544;Hsp70 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNAJB12	https://www.uniprot.org/uniprot/Q9NXW2		https://www.ncbi.nlm.nih.gov/omim/?term=608376	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJB12&submit=Quick%0D%9152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJB12	rs9416018	0.284545	0.4698	0.4808	1	0	0	intronic	intronic	intronic	DNAJB12	DNAJB12	ENSG00000148719	Na	Na	Na	Na	Na	Na	Het;G>A	790;39|36	Hom;G>A	3028;2|112
N	N	-	10	7423960	7423960	T	C	snp	intronic	 	 	 	 	SFMBT2	Sfmbt2	ENSG00000198879	Scm-like with four mbt domains 2	chr10:7200586-7453450		Metabolism; Lupus Erythematosus, Systemic; Stroke	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IDA	GO:0005634;nucleus;IDA|GO:0016235;aggresome;IDA|GO:0016607;nuclear speck;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFMBT2			https://www.ncbi.nlm.nih.gov/omim/?term=615392	http://www.informatics.jax.org/searchtool/Search.do?query=SFMBT2&submit=Quick%0D%17057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFMBT2	rs2254756	0.961262	0	0	1	0	0	intronic	intronic	intronic	SFMBT2	SFMBT2	ENSG00000198879	Na	Na	Na	Na	Na	Na	Het;T>C	150;2|4	Hom;T>C	566;0|14
N	N	-	10	7423984	7423984	G	T	snp	intronic	 	 	 	 	SFMBT2	Sfmbt2	ENSG00000198879	Scm-like with four mbt domains 2	chr10:7200586-7453450		Metabolism; Lupus Erythematosus, Systemic; Stroke	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IDA	GO:0005634;nucleus;IDA|GO:0016235;aggresome;IDA|GO:0016607;nuclear speck;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFMBT2			https://www.ncbi.nlm.nih.gov/omim/?term=615392	http://www.informatics.jax.org/searchtool/Search.do?query=SFMBT2&submit=Quick%0D%17057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFMBT2	rs2254760	0.961861	0	0	1	0	0	intronic	intronic	intronic	SFMBT2	SFMBT2	ENSG00000198879	Na	Na	Na	Na	Na	Na	Het;G>T	85;2|3	Hom;G>T	242;0|6
N	N	-	10	75484004	75484004	G	C	snp	ncRNA_intronic	 	 	 	 	BMS1P4																		rs7909544	0.332668	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	BMS1P4	BMS1P4	ENSG00000242288,ENSG00000242338,ENSG00000271816	Na	Na	Na	Na	Na	Na	Het;G>C	171;5|9	Hom;G>C	269;0|12
N	N	-	10	76468851	76468851	C	T	snp	UTR3	*648C>T	 	 	 	ADK	Adk	ENSG00000156110	adenosine kinase	chr10:75910960-76469061	This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]	Cholesterol, LDL; Tobacco Use Disorder; Alzheimer's disease ; diabetes, type 1; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Type 2 Diabetes| edema | rosiglitazone; Tooth Eruption	Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation.	Purine salvage	GO:0006166;purine ribonucleoside salvage;IEA|GO:0006167;AMP biosynthetic process;IEA|GO:0006169;adenosine salvage;IBA|GO:0006175;dATP biosynthetic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0044209;AMP salvage;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004001;adenosine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADK	https://www.uniprot.org/uniprot/P55263	https://hpo.jax.org/app/browse/search?q=ADK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102750	http://www.informatics.jax.org/searchtool/Search.do?query=ADK&submit=Quick%0D%9941ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADK	rs1189553	0.85004	0	0	1	0	0	UTR3	UTR3	UTR3	ADK(NM_001202450:c.*648C>T,NM_006721:c.*648C>T,NM_001202449:c.*648C>T,NM_001123:c.*648C>T)	ADK(uc001jwi.3:c.*648C>T,uc010qlb.2:c.*648C>T,uc001jwj.3:c.*648C>T,uc010qlc.2:c.*648C>T)	ENSG00000156110(ENST00000372734:c.*648C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	397;17|20	Hom;C>T	942;0|36
N	N	-	10	7697504	7697504	G	A	snp	intronic	 	 	 	 	ITIH5	Itih5	ENSG00000123243	inter-alpha-trypsin inhibitor heavy chain family member 5	chr10:7601232-7708961	This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Alzheimer's disease ; Tobacco Use Disorder; Oocytes; Body Height; Myocardial Infarction	 		GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA		GO:0004867;serine-type endopeptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITIH5	https://www.uniprot.org/uniprot/Q86UX2		https://www.ncbi.nlm.nih.gov/omim/?term=609783	http://www.informatics.jax.org/searchtool/Search.do?query=ITIH5&submit=Quick%0D%5505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH5	rs11255267	0.255391	0	0	1	0	0	intronic	intronic	intronic	ITIH5	ITIH5	ENSG00000123243	Na	Na	Na	Na	Na	Na	Het;G>A	108;9|7	Hom;G>A	352;0|13
N	N	-	10	774793	774793	C	T	snp	intergenic	 	 	 	 	DIP2C	Dip2c	ENSG00000151240	disco interacting protein 2 homolog C	chr10:320130-735683	This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]	Triglycerides; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; hypertension; Alzheimer Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Lipids; Tobacco Use Disorder	 		GO:0008150;biological_process;ND|GO:0008152;metabolic process;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DIP2C	https://www.uniprot.org/uniprot/Q9Y2E4		https://www.ncbi.nlm.nih.gov/omim/?term=611380	http://www.informatics.jax.org/searchtool/Search.do?query=DIP2C&submit=Quick%0D%9395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DIP2C	rs12778529	0.682308	0	0	1	0	0	intergenic	intergenic	intergenic	DIP2C(dist=39185),LARP4B(dist=78061)	DIP2C(dist=39185),LARP4B(dist=78061)	ENSG00000151240(dist=39110),ENSG00000231601(dist=15139)	Na	Na	Na	Na	Na	Na	Het;C>T	43;2|3	Hom;C>T	120;0|6
N	N	-	10	7776831	7776831	C	T	snp	intronic	 	 	 	 	ITIH2	Itih2	ENSG00000151655	inter-alpha-trypsin inhibitor heavy chain 2	chr10:7745232-7791483	The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]	Alzheimer's disease 	 	Post-translational protein phosphorylation	GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004866;endopeptidase inhibitor activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITIH2	https://www.uniprot.org/uniprot/P19823		https://www.ncbi.nlm.nih.gov/omim/?term=146640	http://www.informatics.jax.org/searchtool/Search.do?query=ITIH2&submit=Quick%0D%9450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH2	rs1926937	0.369808	0	0	1	0	0	intronic	intronic	intronic	ITIH2	ITIH2	ENSG00000151655	Na	Na	Na	Na	Na	Na	Het;C>T	415;13|17	Hom;C>T	633;0|21
N	N	-	10	7795911	7795911	A	G	snp	UTR3	*2132T>C	 	 	 	KIN	Kin	ENSG00000151657	Kin17 DNA and RNA binding protein	chr10:7792925-7829990	The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]	monocyte chemoattractant protein 1 (66-77); Alzheimer's disease 	 	Protein methylation	GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006397;mRNA processing;IEA|GO:0006479;protein methylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016032;viral process;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016363;nuclear matrix;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KIN	https://www.uniprot.org/uniprot/O60870		https://www.ncbi.nlm.nih.gov/omim/?term=601720	http://www.informatics.jax.org/searchtool/Search.do?query=KIN&submit=Quick%0D%9451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIN	rs7342066	0.639776	0	0	1	0	0	UTR3	UTR3	UTR3	KIN(NM_012311:c.*2132T>C)	KIN(uc001ijt.3:c.*2132T>C)	ENSG00000151657(ENST00000379562:c.*2132T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	556;16|28	Hom;A>G	754;0|27
N	N	-	10	7811407	7811407	G	C	snp	intronic	 	 	 	 	KIN	Kin	ENSG00000151657	Kin17 DNA and RNA binding protein	chr10:7792925-7829990	The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]	monocyte chemoattractant protein 1 (66-77); Alzheimer's disease 	 	Protein methylation	GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006397;mRNA processing;IEA|GO:0006479;protein methylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016032;viral process;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016363;nuclear matrix;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KIN	https://www.uniprot.org/uniprot/O60870		https://www.ncbi.nlm.nih.gov/omim/?term=601720	http://www.informatics.jax.org/searchtool/Search.do?query=KIN&submit=Quick%0D%9451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIN	rs2296734	0.234225	0	0	1	0	0	intronic	intronic	intronic	KIN	KIN	ENSG00000151657	Na	Na	Na	Na	Na	Na	Het;G>C	111;22|7	Hom;G>C	704;0|22
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	79364564	79364564	G	A	snp	intronic	 	 	 	 	KCNMA1	Kcnma1	ENSG00000156113	potassium calcium-activated channel subfamily M alpha 1	chr10:78629359-79398353	MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; Cholesterol; Alzheimer's disease ; Glucose; Heart Rate; Tobacco Use Disorder; Narcolepsy; Diabetic Nephropathies; Iron; Hypertension|Myocardial Infarction; Amyotrophic Lateral Sclerosis; Obesity; Fibrinogen; Hip; Myocardial Infarction; Blood Pressure; Lipoproteins, VLDL; Mortality; Cystatins; Alcoholism	Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment.	cGMP effects	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006970;response to osmotic stress;IDA|GO:0030007;cellular potassium ion homeostasis;IDA|GO:0034465;response to carbon monoxide;IDA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045794;negative regulation of cell volume;IDA|GO:0051592;response to calcium ion;IDA|GO:0055085;transmembrane transport;IEA|GO:0060073;micturition;IDA|GO:0060083;smooth muscle contraction involved in micturition;IDA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IDA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0060072;large conductance calcium-activated potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNMA1	https://www.uniprot.org/uniprot/Q12791	https://hpo.jax.org/app/browse/search?q=KCNMA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600150	http://www.informatics.jax.org/searchtool/Search.do?query=KCNMA1&submit=Quick%0D%9942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNMA1	rs11598926	0.256989	0	0	1	0	0	intronic	intronic	intronic	KCNMA1	KCNMA1	ENSG00000156113	Na	Na	Na	Na	Na	Na	Het;G>A	34;2|2	Hom;G>A	71;0|4
N	N	-	10	8006798	8006798	A	G	snp	nonsynonymous SNV	A1325G	N442S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TAF3	Taf3	ENSG00000165632	TATA-box binding protein associated factor 3	chr10:7860467-8058590	The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]	Celiac Disease|; Coronary Disease|Coronary heart disease|Myocardial Infarction; Disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke	 	RNA Polymerase II Transcription Initiation And Promoter Clearance	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0031965;nuclear membrane;IDA	GO:0002039;p53 binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAF3			https://www.ncbi.nlm.nih.gov/omim/?term=606576	http://www.informatics.jax.org/searchtool/Search.do?query=TAF3&submit=Quick%0D%11585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF3	rs4747647	0.542133	0.5292	0.6047	0.08	1	13	exonic	exonic	exonic	TAF3	TAF3	ENSG00000165632	nonsynonymous SNV	nonsynonymous SNV	unknown	TAF3:NM_031923:exon3:c.A1325G:p.N442S,	TAF3:uc010qbd.3:exon3:c.A1325G:p.N442S,	UNKNOWN	Het;A>G	1374;105|70	Hom;A>G	4216;0|143
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81037229	81037229	G	A	snp	intronic	 	 	 	 	ZMIZ1	Zmiz1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1	rs1250539	0.610224	0	0	1	0	0	intronic	intronic	intronic	ZMIZ1	ZMIZ1	ENSG00000108175	Na	Na	Na	Na	Na	Na	Het;G>A	79;8|4	Hom;G>A	350;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81053475	81053475	G	A	snp	nonsynonymous SNV	G941A	R314H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZMIZ1	Zmiz1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1	rs1250560	0.474641	0	0.4346	1	0	0	intronic	exonic	intronic	ZMIZ1	ZMIZ1	ENSG00000108175	Na	nonsynonymous SNV	Na	Na	ZMIZ1:uc001kah.1:exon5:c.G941A:p.R314H,	Na	Het;G>A	599;18|28	Hom;G>A	1245;0|47
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81053560	81053560	G	A	snp	UTR3	*18G>A	 	 	 	ZMIZ1	Zmiz1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1	rs1250559	0.430112	0	0.4740	1	0	0	intronic	UTR3	intronic	ZMIZ1	ZMIZ1(uc001kah.1:c.*18G>A)	ENSG00000108175	Na	Na	Na	Na	Na	Na	Het;G>A	70;4|4	Hom;G>A	163;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81060474	81060474	T	C	snp	intronic	 	 	 	 	ZMIZ1	Zmiz1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1	rs1250549	0.590056	0.5298	0.5229	1	0	0	intronic	intronic	intronic	ZMIZ1	ZMIZ1	ENSG00000108175	Na	Na	Na	Na	Na	Na	Het;T>C	1740;102|86	Hom;T>C	3192;0|116
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81060829	81060829	G	A	snp	intronic	 	 	 	 	ZMIZ1	Zmiz1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1	rs1782648	0.360224	0	0	1	0	0	intronic	intronic	intronic	ZMIZ1	ZMIZ1	ENSG00000108175	Na	Na	Na	Na	Na	Na	Het;G>A	96;1|4	Hom;G>A	485;0|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81065774	81065774	G	T	snp	intronic	 	 	 	 	ZMIZ1	Zmiz1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1	rs1250557	0.613019	0	0	1	0	0	intronic	intronic	intronic	ZMIZ1	ZMIZ1	ENSG00000108175	Na	Na	Na	Na	Na	Na	Het;G>T	691;7|26	Hom;G>T	666;0|22
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81067040	81067040	C	T	snp	intronic	 	 	 	 	ZMIZ1	Zmiz1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1	rs1250554	0.260583	0	0	1	0	0	intronic	intronic	intronic	ZMIZ1	ZMIZ1	ENSG00000108175	Na	Na	Na	Na	Na	Na	Het;C>T	47;8|3	Hom;C>T	205;0|8
N	N	-	10	8111409	8111409	C	T	snp	intronic	 	 	 	 	GATA3	Gata3	ENSG00000107485	GATA binding protein 3	chr10:8095567-8117161	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]	Erythrocyte Count; chronic obstructive pulmonary disease; Sodium; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Rhinitis, Allergic, Perennial; Hypersensitivity; Diabetes Mellitus; Asthma; null; respiratory syncytial virus bronchiolitis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; bladder cancer; Hypersensitivity, Immediate|Rhinitis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; allergic rhinitis; Creatinine; Hodgkin Disease; breast cancer; breast cancer ; Stroke; Respiratory Function Tests; asthma; bronchodilator response; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hypertension; Dermatitis, Atopic	Homozygous inactivation is embryonic lethal and show a variety of embryonic defects. T cell development is impaired when the locus is conditionally. Mice with a spontaneous mutation exhibit partial hair loss and various defects in hair structure and in hair growth cycle regulation.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001709;cell fate determination;IEA|GO:0001764;neuron migration;IEA|GO:0001775;cell activation;IEA|GO:0001806;type IV hypersensitivity;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0002376;immune system process;IEA|GO:0002572;pro-T cell differentiation;IEA|GO:0003180;aortic valve morphogenesis;IEA|GO:0003215;cardiac right ventricle morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006952;defense response;TAS|GO:0006959;humoral immune response;IEA|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007596;blood coagulation;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009615;response to virus;IEP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009791;post-embryonic development;IEA|GO:0009967;positive regulation of signal transduction;IMP|GO:0010332;response to gamma radiation;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030182;neuron differentiation;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0031929;TOR signaling;IEA|GO:0032689;negative regulation of interferon-gamma production;IEA|GO:0032703;negative regulation of interleukin-2 production;IEA|GO:0032736;positive regulation of interleukin-13 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0032754;positive regulation of interleukin-5 production;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0033600;negative regulation of mammary gland epithelial cell proliferation;IDA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035457;cellular response to interferon-alpha;IEP|GO:0035799;ureter maturation;IEA|GO:0035898;parathyroid hormone secretion;IEA|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0042421;norepinephrine biosynthetic process;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042493;response to drug;IEA|GO:0043370;regulation of CD4-positive, alpha-beta T cell differentiation;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043583;ear development;IMP|GO:0043627;response to estrogen;IEP|GO:0045061;thymic T cell selection;IEA|GO:0045064;T-helper 2 cell differentiation;IEA|GO:0045087;innate immune response;IEA|GO:0045471;response to ethanol;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045599;negative regulation of fat cell differentiation;IMP|GO:0045786;negative regulation of cell cycle;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048469;cell maturation;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048538;thymus development;IEA|GO:0048568;embryonic organ development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060017;parathyroid gland development;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060065;uterus development;IEA|GO:0060231;mesenchymal to epithelial transition;IDA|GO:0060374;mast cell differentiation;IEA|GO:0060676;ureteric bud formation;IEA|GO:0061085;regulation of histone H3-K27 methylation;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071353;cellular response to interleukin-4;IEP|GO:0071356;cellular response to tumor necrosis factor;IEP|GO:0071442;positive regulation of histone H3-K14 acetylation;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:0072001;renal system development;IEA|GO:0072107;positive regulation of ureteric bud formation;IEA|GO:0072178;nephric duct morphogenesis;IEA|GO:0072179;nephric duct formation;IEA|GO:0072182;regulation of nephron tubule epithelial cell differentiation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:0072676;lymphocyte migration;IDA|GO:0090102;cochlea development;IEA|GO:1901536;negative regulation of DNA demethylation;IEA|GO:2000114;regulation of establishment of cell polarity;IEA|GO:2000146;negative regulation of cell motility;IMP|GO:2000352;negative regulation of endothelial cell apoptotic process;IMP|GO:2000553;positive regulation of T-helper 2 cell cytokine production;IEA|GO:2000607;negative regulation of cell proliferation involved in mesonephros development;IEA|GO:2000611;positive regulation of thyroid hormone generation;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IDA|GO:2000667;positive regulation of interleukin-13 secretion;IDA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IMP|GO:2000683;regulation of cellular response to X-ray;IMP|GO:2000703;negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation;IEA|GO:2000734;negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IDA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001071;nucleic acid binding transcription factor activity;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001158;enhancer sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IDA|GO:0005134;interleukin-2 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;IDA|GO:0071837;HMG box domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GATA3	https://www.uniprot.org/uniprot/P23771	https://hpo.jax.org/app/browse/search?q=GATA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131320	http://www.informatics.jax.org/searchtool/Search.do?query=GATA3&submit=Quick%0D%3609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATA3	rs422628	0.826877	0.7535	0.8025	1	0	0	intronic	intronic	intronic	GATA3	GATA3	ENSG00000107485	Na	Na	Na	Na	Na	Na	Het;C>T	780;21|36	Hom;C>T	1577;0|58
N	N	-	10	8116241	8116241	G	GA	indel	UTR3	*255G>GA	 	 	 	GATA3	Gata3	ENSG00000107485	GATA binding protein 3	chr10:8095567-8117161	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]	Erythrocyte Count; chronic obstructive pulmonary disease; Sodium; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Rhinitis, Allergic, Perennial; Hypersensitivity; Diabetes Mellitus; Asthma; null; respiratory syncytial virus bronchiolitis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; bladder cancer; Hypersensitivity, Immediate|Rhinitis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; allergic rhinitis; Creatinine; Hodgkin Disease; breast cancer; breast cancer ; Stroke; Respiratory Function Tests; asthma; bronchodilator response; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hypertension; Dermatitis, Atopic	Homozygous inactivation is embryonic lethal and show a variety of embryonic defects. T cell development is impaired when the locus is conditionally. Mice with a spontaneous mutation exhibit partial hair loss and various defects in hair structure and in hair growth cycle regulation.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001709;cell fate determination;IEA|GO:0001764;neuron migration;IEA|GO:0001775;cell activation;IEA|GO:0001806;type IV hypersensitivity;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0002376;immune system process;IEA|GO:0002572;pro-T cell differentiation;IEA|GO:0003180;aortic valve morphogenesis;IEA|GO:0003215;cardiac right ventricle morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006952;defense response;TAS|GO:0006959;humoral immune response;IEA|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007596;blood coagulation;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009615;response to virus;IEP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009791;post-embryonic development;IEA|GO:0009967;positive regulation of signal transduction;IMP|GO:0010332;response to gamma radiation;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030182;neuron differentiation;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0031929;TOR signaling;IEA|GO:0032689;negative regulation of interferon-gamma production;IEA|GO:0032703;negative regulation of interleukin-2 production;IEA|GO:0032736;positive regulation of interleukin-13 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0032754;positive regulation of interleukin-5 production;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0033600;negative regulation of mammary gland epithelial cell proliferation;IDA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035457;cellular response to interferon-alpha;IEP|GO:0035799;ureter maturation;IEA|GO:0035898;parathyroid hormone secretion;IEA|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0042421;norepinephrine biosynthetic process;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042493;response to drug;IEA|GO:0043370;regulation of CD4-positive, alpha-beta T cell differentiation;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043583;ear development;IMP|GO:0043627;response to estrogen;IEP|GO:0045061;thymic T cell selection;IEA|GO:0045064;T-helper 2 cell differentiation;IEA|GO:0045087;innate immune response;IEA|GO:0045471;response to ethanol;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045599;negative regulation of fat cell differentiation;IMP|GO:0045786;negative regulation of cell cycle;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048469;cell maturation;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048538;thymus development;IEA|GO:0048568;embryonic organ development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060017;parathyroid gland development;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060065;uterus development;IEA|GO:0060231;mesenchymal to epithelial transition;IDA|GO:0060374;mast cell differentiation;IEA|GO:0060676;ureteric bud formation;IEA|GO:0061085;regulation of histone H3-K27 methylation;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071353;cellular response to interleukin-4;IEP|GO:0071356;cellular response to tumor necrosis factor;IEP|GO:0071442;positive regulation of histone H3-K14 acetylation;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:0072001;renal system development;IEA|GO:0072107;positive regulation of ureteric bud formation;IEA|GO:0072178;nephric duct morphogenesis;IEA|GO:0072179;nephric duct formation;IEA|GO:0072182;regulation of nephron tubule epithelial cell differentiation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:0072676;lymphocyte migration;IDA|GO:0090102;cochlea development;IEA|GO:1901536;negative regulation of DNA demethylation;IEA|GO:2000114;regulation of establishment of cell polarity;IEA|GO:2000146;negative regulation of cell motility;IMP|GO:2000352;negative regulation of endothelial cell apoptotic process;IMP|GO:2000553;positive regulation of T-helper 2 cell cytokine production;IEA|GO:2000607;negative regulation of cell proliferation involved in mesonephros development;IEA|GO:2000611;positive regulation of thyroid hormone generation;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IDA|GO:2000667;positive regulation of interleukin-13 secretion;IDA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IMP|GO:2000683;regulation of cellular response to X-ray;IMP|GO:2000703;negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation;IEA|GO:2000734;negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IDA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001071;nucleic acid binding transcription factor activity;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001158;enhancer sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IDA|GO:0005134;interleukin-2 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;IDA|GO:0071837;HMG box domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GATA3	https://www.uniprot.org/uniprot/P23771	https://hpo.jax.org/app/browse/search?q=GATA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131320	http://www.informatics.jax.org/searchtool/Search.do?query=GATA3&submit=Quick%0D%3609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATA3	rs3839918	0	0	0	1	0	0	UTR3	UTR3	UTR3	GATA3(NM_001002295:c.*255G>GA,NM_002051:c.*255G>GA)	GATA3(uc001ijz.3:c.*255G>GA,uc001ika.3:c.*255G>GA)	ENSG00000107485(ENST00000379328:c.*255G>GA,ENST00000346208:c.*255G>GA)	Na	Na	Na	Na	Na	Na	Het;+A	219;18|13	Hom;+A	946;1|39
N	N	-	10	8116503	8116503	A	G	snp	UTR3	*517A>G	 	 	 	GATA3	Gata3	ENSG00000107485	GATA binding protein 3	chr10:8095567-8117161	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]	Erythrocyte Count; chronic obstructive pulmonary disease; Sodium; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Rhinitis, Allergic, Perennial; Hypersensitivity; Diabetes Mellitus; Asthma; null; respiratory syncytial virus bronchiolitis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; bladder cancer; Hypersensitivity, Immediate|Rhinitis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; allergic rhinitis; Creatinine; Hodgkin Disease; breast cancer; breast cancer ; Stroke; Respiratory Function Tests; asthma; bronchodilator response; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hypertension; Dermatitis, Atopic	Homozygous inactivation is embryonic lethal and show a variety of embryonic defects. T cell development is impaired when the locus is conditionally. Mice with a spontaneous mutation exhibit partial hair loss and various defects in hair structure and in hair growth cycle regulation.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001709;cell fate determination;IEA|GO:0001764;neuron migration;IEA|GO:0001775;cell activation;IEA|GO:0001806;type IV hypersensitivity;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0002376;immune system process;IEA|GO:0002572;pro-T cell differentiation;IEA|GO:0003180;aortic valve morphogenesis;IEA|GO:0003215;cardiac right ventricle morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006952;defense response;TAS|GO:0006959;humoral immune response;IEA|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007596;blood coagulation;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009615;response to virus;IEP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009791;post-embryonic development;IEA|GO:0009967;positive regulation of signal transduction;IMP|GO:0010332;response to gamma radiation;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030182;neuron differentiation;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0031929;TOR signaling;IEA|GO:0032689;negative regulation of interferon-gamma production;IEA|GO:0032703;negative regulation of interleukin-2 production;IEA|GO:0032736;positive regulation of interleukin-13 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0032754;positive regulation of interleukin-5 production;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0033600;negative regulation of mammary gland epithelial cell proliferation;IDA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035457;cellular response to interferon-alpha;IEP|GO:0035799;ureter maturation;IEA|GO:0035898;parathyroid hormone secretion;IEA|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0042421;norepinephrine biosynthetic process;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042493;response to drug;IEA|GO:0043370;regulation of CD4-positive, alpha-beta T cell differentiation;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043583;ear development;IMP|GO:0043627;response to estrogen;IEP|GO:0045061;thymic T cell selection;IEA|GO:0045064;T-helper 2 cell differentiation;IEA|GO:0045087;innate immune response;IEA|GO:0045471;response to ethanol;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045599;negative regulation of fat cell differentiation;IMP|GO:0045786;negative regulation of cell cycle;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048469;cell maturation;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048538;thymus development;IEA|GO:0048568;embryonic organ development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060017;parathyroid gland development;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060065;uterus development;IEA|GO:0060231;mesenchymal to epithelial transition;IDA|GO:0060374;mast cell differentiation;IEA|GO:0060676;ureteric bud formation;IEA|GO:0061085;regulation of histone H3-K27 methylation;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071353;cellular response to interleukin-4;IEP|GO:0071356;cellular response to tumor necrosis factor;IEP|GO:0071442;positive regulation of histone H3-K14 acetylation;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:0072001;renal system development;IEA|GO:0072107;positive regulation of ureteric bud formation;IEA|GO:0072178;nephric duct morphogenesis;IEA|GO:0072179;nephric duct formation;IEA|GO:0072182;regulation of nephron tubule epithelial cell differentiation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:0072676;lymphocyte migration;IDA|GO:0090102;cochlea development;IEA|GO:1901536;negative regulation of DNA demethylation;IEA|GO:2000114;regulation of establishment of cell polarity;IEA|GO:2000146;negative regulation of cell motility;IMP|GO:2000352;negative regulation of endothelial cell apoptotic process;IMP|GO:2000553;positive regulation of T-helper 2 cell cytokine production;IEA|GO:2000607;negative regulation of cell proliferation involved in mesonephros development;IEA|GO:2000611;positive regulation of thyroid hormone generation;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IDA|GO:2000667;positive regulation of interleukin-13 secretion;IDA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IMP|GO:2000683;regulation of cellular response to X-ray;IMP|GO:2000703;negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation;IEA|GO:2000734;negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IDA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001071;nucleic acid binding transcription factor activity;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001158;enhancer sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IDA|GO:0005134;interleukin-2 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;IDA|GO:0071837;HMG box domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GATA3	https://www.uniprot.org/uniprot/P23771	https://hpo.jax.org/app/browse/search?q=GATA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131320	http://www.informatics.jax.org/searchtool/Search.do?query=GATA3&submit=Quick%0D%3609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATA3	rs9746	0.185503	0	0	1	0	0	UTR3	UTR3	UTR3	GATA3(NM_001002295:c.*517A>G,NM_002051:c.*517A>G)	GATA3(uc001ijz.3:c.*517A>G,uc001ika.3:c.*517A>G)	ENSG00000107485(ENST00000379328:c.*517A>G,ENST00000346208:c.*517A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	935;37|42	Hom;A>G	2644;0|94
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81318820	81318820	G	A	snp	intronic	 	 	 	 	SFTPA2		ENSG00000185303	surfactant protein A2	chr10:81315608-81320153	This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]	Spondylarthritis; Alzheimer's disease ; COPD | Chronic obstructive Pulmonary Disease; Urinary tract infection|Urinary Tract Infections; Sudden Infant Death; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn	Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide.	Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFTPA2		https://hpo.jax.org/app/browse/search?q=SFTPA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=178642	http://www.informatics.jax.org/searchtool/Search.do?query=SFTPA2&submit=Quick%0D%15390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPA2	rs17880349	0.517971	0	0	1	0	0	intronic	intronic	intronic	SFTPA2	SFTPA2	ENSG00000185303	Na	Na	Na	Na	Na	Na	Het;G>A	1304;55|57	Hom;G>A	2262;0|84
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81319214	81319214	G	T	snp	nonsynonymous SNV	C26A	T9N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SFTPA2		ENSG00000185303	surfactant protein A2	chr10:81315608-81320153	This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]	Spondylarthritis; Alzheimer's disease ; COPD | Chronic obstructive Pulmonary Disease; Urinary tract infection|Urinary Tract Infections; Sudden Infant Death; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn	Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide.	Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFTPA2		https://hpo.jax.org/app/browse/search?q=SFTPA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=178642	http://www.informatics.jax.org/searchtool/Search.do?query=SFTPA2&submit=Quick%0D%15390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPA2	rs1059046	0.448482	0	0.3695	0.17	2	12	exonic	exonic	exonic	SFTPA2	SFTPA2	ENSG00000185303	nonsynonymous SNV	nonsynonymous SNV	unknown	SFTPA2:NM_001098668:exon3:c.C26A:p.T9N,	SFTPA2:uc001kal.4:exon3:c.C26A:p.T9N,SFTPA2:uc001kan.4:exon2:c.C26A:p.T9N,	UNKNOWN	Het;G>T	588;78|29	Hom;G>T	1375;0|46
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81343177	81343177	T	C	snp	ncRNA_intronic	 	 	 	 	MBL3P																		rs36137304	0.495208	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	SFTPA2(dist=23014),SFTPA1(dist=27518)	SFTPA2(dist=23014),SFTPA1(dist=27518)	ENSG00000219430	Na	Na	Na	Na	Na	Na	Het;T>C	195;8|9	Hom;T>C	762;0|28
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81664796	81664796	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100288974																		rs4342971	0.385783	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100288974	LOC100288974	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;C>T	1790;83|86	Hom;C>T	5041;3|198
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81680241	81680241	A	G	snp	ncRNA_exonic	 	 	 	 	MBL1P																		rs34165190	0.0235623	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MBL1P	MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;A>G	1136;51|48	Hom;A>G	2705;0|98
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81680308	81680308	G	A	snp	ncRNA_exonic	 	 	 	 	MBL1P																		rs3750876	0.178315	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MBL1P	MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;G>A	1305;42|56	Hom;G>A	2931;0|108
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81680976	81680976	A	G	snp	ncRNA_intronic	 	 	 	 	LOC100288974																		rs2819107	0.635383	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100288974,MBL1P	LOC100288974,MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;A>G	252;1|9	Hom;A>G	137;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81681599	81681599	C	CCACTTTGT	indel	ncRNA_intronic	 	 	 	 	LOC100288974																		rs573301410	0.0261581	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100288974,MBL1P	LOC100288974,MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;+CACTTTGT	266;11|4	Hom;+CACTTTGT	833;1|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81681611	81681611	T	C	snp	ncRNA_intronic	 	 	 	 	LOC100288974																		rs79112672	0.0223642	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100288974,MBL1P	LOC100288974,MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;T>C	224;15|10	Hom;T>C	770;1|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81681634	81681634	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100288974																		rs148254720	0.0109824	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100288974,MBL1P	LOC100288974,MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;C>T	438;24|22	Hom;C>T	1227;1|46
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81681708	81681708	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100288974																		rs45614540	0.0758786	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100288974,MBL1P	LOC100288974,MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;T>C	834;49|42	Hom;T>C	2710;1|101
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81682640	81682640	C	T	snp	ncRNA_exonic	 	 	 	 	MBL1P																		rs41314475	0.0265575	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MBL1P	MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;C>T	1117;85|58	Hom;C>T	3737;2|87
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81682674	81682674	G	A	snp	ncRNA_exonic	 	 	 	 	MBL1P																		rs148570261	0.00698882	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MBL1P	MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;G>A	1341;103|70	Hom;G>A	2733;2|98
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81682742	81682742	G	A	snp	ncRNA_exonic	 	 	 	 	MBL1P																		rs76156413	0.0257588	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MBL1P	MBL1P	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;G>A	1537;104|79	Hom;G>A	3042;2|118
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81701580	81701580	C	T	snp	ncRNA_intronic	 	 	 	 	MBL1P																		rs911886	0.130791	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SFTPD	SFTPD	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;C>T	126;2|5	Hom;C>T	389;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81701609	81701609	C	T	snp	ncRNA_intronic	 	 	 	 	MBL1P																		rs187382036	0.00139776	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SFTPD	SFTPD	ENSG00000242600	Na	Na	Na	Na	Na	Na	Het;C>T	282;5|12	Hom;C>T	644;0|21
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81742105	81742105	G	A	snp	intronic	 	 	 	 	SFTPD	Sftpd	ENSG00000133661	surfactant protein D	chr10:81697496-81742370	The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]	Periodontitis; chronic obstructive pulmonary disease; esophageal adenocarcinoma; respiratory syncytial virus bronchiolitis; Colitis, Ulcerative|; Pneumonia|Respiratory Distress Syndrome, Newborn|Sepsis; Type 2 Diabetes| edema | rosiglitazone; Sudden Infant Death; Coronary Disease|Inflammation; Arthritis, Rheumatoid|Rheumatoid Arthritis; lung cancer ; lung cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchopulmonary Dysplasia|Respiratory Distress Syndrome, Newborn; respiratory distress syndrome, neonatal; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; bronchopulmonary dysplasia; Rhinitis, Allergic, Perennial; bladder cancer; asthma; Concentration of Surfactant Protein D; Cystic Fibrosis; surfactant protein-D; respiratory syncytial virus; meningococcal disease; blood pressure; COPD | Chronic obstructive Pulmonary Disease; Alzheimer's disease ; Respiratory Syncytial Virus Infections; pulmonary fibrosis; respiratory syncytial virus infection; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn; patent ductus arteriosus	Homozygotes for targeted null mutations exhibit increased pool sizes of alveolar and tissue phosphatidylcholine, accumulation of surfactant lipids, altered phospholipid structure, emphysema, and pulmonary fibrosis and chronic inflammation.	Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)	GO:0001817;regulation of cytokine production;NAS|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0042130;negative regulation of T cell proliferation;TAS|GO:0042742;defense response to bacterium;TAS|GO:0043129;surfactant homeostasis;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0045085;negative regulation of interleukin-2 biosynthetic process;TAS|GO:0045087;innate immune response;IEA|GO:0048246;macrophage chemotaxis;TAS|GO:0048286;lung alveolus development;IMP|GO:0050766;positive regulation of phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0072593;reactive oxygen species metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0030139;endocytic vesicle;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SFTPD	https://www.uniprot.org/uniprot/P35247		https://www.ncbi.nlm.nih.gov/omim/?term=178635	http://www.informatics.jax.org/searchtool/Search.do?query=SFTPD&submit=Quick%0D%6856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPD	rs116193411	0.0625	0	0	1	0	0	intergenic	intergenic	intronic	SFTPD(dist=33244),TMEM254-AS1(dist=63884)	SFTPD(dist=33244),TMEM254-AS1(dist=63884)	ENSG00000133661	Na	Na	Na	Na	Na	Na	Het;G>A	90;1|5	Hom;G>A	675;1|28
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81921843	81921843	T	C	snp	intronic	 	 	 	 	ANXA11	Anxa11	ENSG00000122359	annexin A11	chr10:81910645-81965328	This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]	null; Femur Head Necrosis|; Sarcoidosis; Alzheimer's disease 	 		GO:0006909;phagocytosis;IEP|GO:0007049;cell cycle;IEA|GO:0032506;cytokinetic process;IMP|GO:0051301;cell division;IEA|GO:0051592;response to calcium ion;IDA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0042470;melanosome;IEA|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0044548;S100 protein binding;IPI|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANXA11	https://www.uniprot.org/uniprot/P50995	https://hpo.jax.org/app/browse/search?q=ANXA11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602572	http://www.informatics.jax.org/searchtool/Search.do?query=ANXA11&submit=Quick%0D%5401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA11	rs563638935	0.000399361	0	0	1	0	0	intronic	intronic	intronic	ANXA11	ANXA11	ENSG00000122359	Na	Na	Na	Na	Na	Na	Het;T>C	32;9|4	Hom;T>C	565;0|21
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81923205	81923205	T	G	snp	intronic	 	 	 	 	ANXA11	Anxa11	ENSG00000122359	annexin A11	chr10:81910645-81965328	This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]	null; Femur Head Necrosis|; Sarcoidosis; Alzheimer's disease 	 		GO:0006909;phagocytosis;IEP|GO:0007049;cell cycle;IEA|GO:0032506;cytokinetic process;IMP|GO:0051301;cell division;IEA|GO:0051592;response to calcium ion;IDA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0042470;melanosome;IEA|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0044548;S100 protein binding;IPI|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANXA11	https://www.uniprot.org/uniprot/P50995	https://hpo.jax.org/app/browse/search?q=ANXA11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602572	http://www.informatics.jax.org/searchtool/Search.do?query=ANXA11&submit=Quick%0D%5401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA11	rs2236558	0.347644	0.3591	0.3353	1	0	0	intronic	intronic	intronic	ANXA11	ANXA11	ENSG00000122359	Na	Na	Na	Na	Na	Na	Het;T>G	1007;43|41	Hom;T>G	2043;0|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	81923768	81923768	T	TGCAGAGG	indel	intronic	 	 	 	 	ANXA11	Anxa11	ENSG00000122359	annexin A11	chr10:81910645-81965328	This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]	null; Femur Head Necrosis|; Sarcoidosis; Alzheimer's disease 	 		GO:0006909;phagocytosis;IEP|GO:0007049;cell cycle;IEA|GO:0032506;cytokinetic process;IMP|GO:0051301;cell division;IEA|GO:0051592;response to calcium ion;IDA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0042470;melanosome;IEA|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0044548;S100 protein binding;IPI|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANXA11	https://www.uniprot.org/uniprot/P50995	https://hpo.jax.org/app/browse/search?q=ANXA11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602572	http://www.informatics.jax.org/searchtool/Search.do?query=ANXA11&submit=Quick%0D%5401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA11	rs527510030	0.00119808	8e-05	0.0005	1	0	0	intronic	intronic	intronic	ANXA11	ANXA11	ENSG00000122359	Na	Na	Na	Na	Na	Na	Het;+GCAGAGG	1225;23|30	Hom;+GCAGAGG	2074;0|43
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82009543	82009543	C	G	snp	UTR5	-2940C>G	 	 	 	ENSG00000204038																		rs2819893	0.182907	0	0	1	0	0	intergenic	intergenic	UTR5	LINC00857(dist=30130),MAT1A(dist=22033)	LINC00857(dist=30130),MAT1A(dist=22033)	ENSG00000204038(ENST00000356374:c.-2940C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1376;93|72	Hom;C>G	3215;0|123
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82013134	82013134	C	T	snp	unknown	 	 	 	 	ENSG00000204038																		rs1298908	0.589257	0	0.5138	1	0	0	intergenic	intergenic	exonic	LINC00857(dist=33721),MAT1A(dist=18442)	LINC00857(dist=33721),MAT1A(dist=18442)	ENSG00000204038	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	1283;49|53	Hom;C>T	2886;0|101
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82013146	82013146	T	C	snp	unknown	 	 	 	 	ENSG00000204038																		rs2573326	0.598442	0	0.5378	1	0	0	intergenic	intergenic	exonic	LINC00857(dist=33733),MAT1A(dist=18430)	LINC00857(dist=33733),MAT1A(dist=18430)	ENSG00000204038	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	1342;50|53	Hom;T>C	2960;0|96
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82031679	82031679	A	G	snp	UTR3	*1858T>C	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs150070127	0.000399361	0	0	1	0	0	UTR3	UTR3	UTR3	MAT1A(NM_000429:c.*1858T>C)	MAT1A(uc001kbw.3:c.*1858T>C)	ENSG00000151224(ENST00000372213:c.*1858T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	194;4|8	Hom;A>G	198;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82031937	82031937	C	CCCAGCCTGAA	indel	UTR3	*1600G>TTCAGGCTGGG	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs145159688	0.490016	0	0	1	0	0	UTR3	UTR3	UTR3	MAT1A(NM_000429:c.*1600G>TTCAGGCTGGG)	MAT1A(uc001kbw.3:c.*1600G>TTCAGGCTGGG)	ENSG00000151224(ENST00000372213:c.*1600G>TTCAGGCTGGG)	Na	Na	Na	Na	Na	Na	Het;+CCAGCCTGAA	807;10|20	Hom;+CCAGCCTGAA	1877;0|41
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82032331	82032331	C	T	snp	UTR3	*1206G>A	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs1832683	0.193091	0	0	1	0	0	UTR3	UTR3	UTR3	MAT1A(NM_000429:c.*1206G>A)	MAT1A(uc001kbw.3:c.*1206G>A)	ENSG00000151224(ENST00000372213:c.*1206G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	624;23|32	Hom;C>T	1312;0|53
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82032674	82032674	C	T	snp	UTR3	*863G>A	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs41284064	0.0559105	0	0	1	0	0	UTR3	UTR3	UTR3	MAT1A(NM_000429:c.*863G>A)	MAT1A(uc001kbw.3:c.*863G>A)	ENSG00000151224(ENST00000372213:c.*863G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	186;5|7	Hom;C>T	616;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82033470	82033470	G	A	snp	UTR3	*67C>T	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs7087728	0.200679	0	0	1	0	0	UTR3	UTR3	UTR3	MAT1A(NM_000429:c.*67C>T)	MAT1A(uc001kbw.3:c.*67C>T)	ENSG00000151224(ENST00000372213:c.*67C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1539;74|72	Hom;G>A	2663;0|104
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82033594	82033594	G	A	snp	synonymous SNV	C1131T	Y377Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs2993763	0.586861	0.5379	0.5124	1	0	0	exonic	exonic	exonic	MAT1A	MAT1A	ENSG00000151224	synonymous SNV	synonymous SNV	unknown	MAT1A:NM_000429:exon9:c.C1131T:p.Y377Y,	MAT1A:uc001kbw.3:exon9:c.C1131T:p.Y377Y,	UNKNOWN	Het;G>A	1123;71|59	Hom;G>A	1916;0|76
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82034262	82034262	G	A	snp	intronic	 	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs2994388	0.588059	0.5380	0.5125	1	0	0	intronic	intronic	intronic	MAT1A	MAT1A	ENSG00000151224	Na	Na	Na	Na	Na	Na	Het;G>A	1588;71|76	Hom;G>A	3530;0|124
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82034675	82034675	A	G	snp	intronic	 	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs10788545	0.863818	0	0	1	0	0	intronic	intronic	intronic	MAT1A	MAT1A	ENSG00000151224	Na	Na	Na	Na	Na	Na	Het;A>G	97;6|5	Hom;A>G	336;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82034842	82034842	A	G	snp	synonymous SNV	T882C	A294A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs10887711	0.840455	0.7070	0.7441	1	0	0	exonic	exonic	exonic	MAT1A	MAT1A	ENSG00000151224	synonymous SNV	synonymous SNV	unknown	MAT1A:NM_000429:exon7:c.T882C:p.A294A,	MAT1A:uc001kbw.3:exon7:c.T882C:p.A294A,	UNKNOWN	Het;A>G	1553;61|41	Hom;A>G	1851;0|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82034854	82034854	T	C	snp	synonymous SNV	A870G	V290V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs10788546	0.840855	0.7093	0.7504	1	0	0	exonic	exonic	exonic	MAT1A	MAT1A	ENSG00000151224	synonymous SNV	synonymous SNV	unknown	MAT1A:NM_000429:exon7:c.A870G:p.V290V,	MAT1A:uc001kbw.3:exon7:c.A870G:p.V290V,	UNKNOWN	Het;T>C	1457;63|42	Hom;T>C	1658;0|58
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82040052	82040052	A	G	snp	synonymous SNV	T426C	A142A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs1143694	0.863419	0.7484	0.7543	1	0	0	exonic	exonic	exonic	MAT1A	MAT1A	ENSG00000151224	synonymous SNV	synonymous SNV	unknown	MAT1A:NM_000429:exon5:c.T426C:p.A142A,	MAT1A:uc001kbw.3:exon5:c.T426C:p.A142A,	UNKNOWN	Het;A>G	1197;78|57	Hom;A>G	2942;0|108
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82040346	82040346	A	G	snp	intronic	 	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs2282367	0.863219	0	0	1	0	0	intronic	intronic	intronic	MAT1A	MAT1A	ENSG00000151224	Na	Na	Na	Na	Na	Na	Het;A>G	197;9|8	Hom;A>G	398;0|14
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82043576	82043576	G	A	snp	intronic	 	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs2236569	0.857228	0	0	1	0	0	intronic	intronic	intronic	MAT1A	MAT1A	ENSG00000151224	Na	Na	Na	Na	Na	Na	Het;G>A	272;7|12	Hom;G>A	877;0|32
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82049251	82049251	T	TTTCTTC	indel	UTR5	-72A>GAAGAAA	 	 	 	MAT1A	Mat1a	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A	rs10694757	0.769569	0	0	1	0	0	UTR5	UTR5	UTR5	MAT1A(NM_000429:c.-72A>GAAGAAA)	MAT1A(uc001kbw.3:c.-72A>GAAGAAA)	ENSG00000151224(ENST00000372213:c.-72A>GAAGAAA)	Na	Na	Na	Na	Na	Na	Het;+TTCTTC	1847;46|48	Hom;+TTCTTC	1979;11|77
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82057988	82057988	G	A	snp	ncRNA_exonic	 	 	 	 	ZNF519P1																		rs10788549	0.536542	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MAT1A(dist=8554),DYDC1(dist=37873)	MAT1A(dist=8554),DYDC1(dist=37873)	ENSG00000232950	Na	Na	Na	Na	Na	Na	Het;G>A	259;10|13	Hom;G>A	120;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82095968	82095968	T	G	snp	UTR3	*2204A>C	 	 	 	DYDC1	Dydc1	ENSG00000170788	DPY30 domain containing 1	chr10:82095861-82116511	This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]	Alzheimer's disease 	 		GO:0006348;chromatin silencing at telomere;IBA|GO:0051568;histone H3-K4 methylation;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0048188;Set1C/COMPASS complex;IBA	GO:0005515;protein binding;IPI|GO:0042800;histone methyltransferase activity (H3-K4 specific);IBA	http://www.genecards.org/index.php?path=/Search/keyword/DYDC1			https://www.ncbi.nlm.nih.gov/omim/?term=615154	http://www.informatics.jax.org/searchtool/Search.do?query=DYDC1&submit=Quick%0D%12775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYDC1	rs1340383	0.85004	0.7314	0.7541	1	0	0	intronic	UTR3	intronic	DYDC1	DYDC1(uc009xsr.1:c.*2204A>C,uc001kby.2:c.*2204A>C)	ENSG00000170788	Na	Na	Na	Na	Na	Na	Het;T>G	420;19|20	Hom;T>G	790;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82126808	82126808	C	G	snp	UTR3	*101C>G	 	 	 	DYDC2	Dydc2	ENSG00000133665	DPY30 domain containing 2	chr10:82104501-82127829	This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]	Alzheimer's disease 	 		GO:0006348;chromatin silencing at telomere;IBA|GO:0051568;histone H3-K4 methylation;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0048188;Set1C/COMPASS complex;IBA	GO:0042800;histone methyltransferase activity (H3-K4 specific);IBA	http://www.genecards.org/index.php?path=/Search/keyword/DYDC2	https://www.uniprot.org/uniprot/Q96IM9			http://www.informatics.jax.org/searchtool/Search.do?query=DYDC2&submit=Quick%0D%6857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYDC2	rs1047952	0.845248	0	0	1	0	0	UTR3	UTR3	UTR3	DYDC2(NM_001270042:c.*101C>G,NM_032372:c.*101C>G,NM_001270041:c.*101C>G)	DYDC2(uc001kbz.2:c.*101C>G,uc001kca.1:c.*101C>G,uc031pwk.1:c.*101C>G,uc001kcb.2:c.*101C>G,uc031pwl.1:c.*101C>G)	ENSG00000133665(ENST00000372198:c.*101C>G,ENST00000372199:c.*101C>G,ENST00000372197:c.*101C>G,ENST00000444807:c.*101C>G,ENST00000256039:c.*101C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1109;83|56	Hom;C>G	2976;0|96
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82127111	82127111	T	G	snp	UTR3	*404T>G	 	 	 	DYDC2	Dydc2	ENSG00000133665	DPY30 domain containing 2	chr10:82104501-82127829	This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]	Alzheimer's disease 	 		GO:0006348;chromatin silencing at telomere;IBA|GO:0051568;histone H3-K4 methylation;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0048188;Set1C/COMPASS complex;IBA	GO:0042800;histone methyltransferase activity (H3-K4 specific);IBA	http://www.genecards.org/index.php?path=/Search/keyword/DYDC2	https://www.uniprot.org/uniprot/Q96IM9			http://www.informatics.jax.org/searchtool/Search.do?query=DYDC2&submit=Quick%0D%6857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYDC2	rs1972371	0.845248	0	0	1	0	0	UTR3	UTR3	UTR3	DYDC2(NM_001270042:c.*404T>G,NM_032372:c.*404T>G,NM_001270041:c.*404T>G)	DYDC2(uc001kbz.2:c.*404T>G,uc001kca.1:c.*404T>G,uc031pwk.1:c.*404T>G,uc001kcb.2:c.*404T>G,uc031pwl.1:c.*404T>G)	ENSG00000133665(ENST00000372198:c.*404T>G,ENST00000372199:c.*404T>G,ENST00000372197:c.*404T>G,ENST00000256039:c.*404T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	70;6|3	Hom;T>G	379;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82127551	82127551	C	T	snp	UTR3	*844C>T	 	 	 	DYDC2	Dydc2	ENSG00000133665	DPY30 domain containing 2	chr10:82104501-82127829	This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]	Alzheimer's disease 	 		GO:0006348;chromatin silencing at telomere;IBA|GO:0051568;histone H3-K4 methylation;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0048188;Set1C/COMPASS complex;IBA	GO:0042800;histone methyltransferase activity (H3-K4 specific);IBA	http://www.genecards.org/index.php?path=/Search/keyword/DYDC2	https://www.uniprot.org/uniprot/Q96IM9			http://www.informatics.jax.org/searchtool/Search.do?query=DYDC2&submit=Quick%0D%6857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYDC2	rs946892	0.844848	0	0	1	0	0	UTR3	UTR3	UTR3	DYDC2(NM_001270042:c.*844C>T,NM_032372:c.*844C>T,NM_001270041:c.*844C>T)	DYDC2(uc001kbz.2:c.*844C>T,uc001kca.1:c.*844C>T,uc031pwk.1:c.*844C>T,uc001kcb.2:c.*844C>T,uc031pwl.1:c.*844C>T)	ENSG00000133665(ENST00000372198:c.*844C>T,ENST00000372199:c.*844C>T,ENST00000372197:c.*844C>T,ENST00000256039:c.*844C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	765;52|38	Hom;C>T	1697;0|64
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82182296	82182296	G	A	snp	intronic	 	 	 	 	FAM213A	Fam213a	ENSG00000122378	family with sequence similarity 213 member A	chr10:82167585-82192753		Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit reduced circulating adipokine levels and decreased collagen deposition in adipose tissue along with mild adipocyte ER stress and hyperinsulinemia.		GO:0045670;regulation of osteoclast differentiation;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0016209;antioxidant activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FAM213A	https://www.uniprot.org/uniprot/Q9BRX8		https://www.ncbi.nlm.nih.gov/omim/?term=617165	http://www.informatics.jax.org/searchtool/Search.do?query=FAM213A&submit=Quick%0D%5405ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM213A	rs1870142	0.878794	0.7753	0.7881	1	0	0	intronic	intronic	intronic	FAM213A	FAM213A	ENSG00000122378	Na	Na	Na	Na	Na	Na	Het;G>A	1396;43|63	Hom;G>A	2812;0|103
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82185828	82185828	G	A	snp	intronic	 	 	 	 	FAM213A	Fam213a	ENSG00000122378	family with sequence similarity 213 member A	chr10:82167585-82192753		Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit reduced circulating adipokine levels and decreased collagen deposition in adipose tissue along with mild adipocyte ER stress and hyperinsulinemia.		GO:0045670;regulation of osteoclast differentiation;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0016209;antioxidant activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FAM213A	https://www.uniprot.org/uniprot/Q9BRX8		https://www.ncbi.nlm.nih.gov/omim/?term=617165	http://www.informatics.jax.org/searchtool/Search.do?query=FAM213A&submit=Quick%0D%5405ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM213A	rs77000305	0.0752796	0	0	1	0	0	intronic	intronic	intronic	FAM213A	FAM213A	ENSG00000122378	Na	Na	Na	Na	Na	Na	Het;G>A	1063;69|51	Hom;G>A	3399;0|121
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82220514	82220514	C	T	snp	intronic	 	 	 	 	TSPAN14	Tspan14	ENSG00000108219	tetraspanin 14	chr10:82213922-82292879			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0097197;tetraspanin-enriched microdomain;IEA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN14	https://www.uniprot.org/uniprot/Q8NG11			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN14&submit=Quick%0D%3686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN14	rs7086496	0.547923	0	0	1	0	0	intronic	intronic	intronic	TSPAN14	TSPAN14	ENSG00000108219	Na	Na	Na	Na	Na	Na	Het;C>T	1306;87|65	Hom;C>T	3327;0|124
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82220597	82220597	C	T	snp	intronic	 	 	 	 	TSPAN14	Tspan14	ENSG00000108219	tetraspanin 14	chr10:82213922-82292879			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0097197;tetraspanin-enriched microdomain;IEA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN14	https://www.uniprot.org/uniprot/Q8NG11			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN14&submit=Quick%0D%3686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN14	rs7086627	0.883187	0	0	1	0	0	intronic	intronic	intronic	TSPAN14	TSPAN14	ENSG00000108219	Na	Na	Na	Na	Na	Na	Het;C>T	319;15|13	Hom;C>T	945;0|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82269238	82269238	C	T	snp	intronic	 	 	 	 	TSPAN14	Tspan14	ENSG00000108219	tetraspanin 14	chr10:82213922-82292879			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0097197;tetraspanin-enriched microdomain;IEA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN14	https://www.uniprot.org/uniprot/Q8NG11			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN14&submit=Quick%0D%3686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN14	rs10785897	0.5627	0.5078	0.5567	1	0	0	intronic	intronic	intronic	TSPAN14	TSPAN14	ENSG00000108219	Na	Na	Na	Na	Na	Na	Het;C>T	177;20|10	Hom;C>T	761;0|30
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82272189	82272189	T	C	snp	intronic	 	 	 	 	TSPAN14	Tspan14	ENSG00000108219	tetraspanin 14	chr10:82213922-82292879			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0097197;tetraspanin-enriched microdomain;IEA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN14	https://www.uniprot.org/uniprot/Q8NG11			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN14&submit=Quick%0D%3686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN14	rs75442315	0.0539137	0	0	1	0	0	intronic	intronic	intronic	TSPAN14	TSPAN14	ENSG00000108219	Na	Na	Na	Na	Na	Na	Het;T>C	267;4|8	Hom;T>C	354;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82289307	82289307	G	GC	indel	UTR3	*11575G>GC	 	 	 	TSPAN14	Tspan14	ENSG00000108219	tetraspanin 14	chr10:82213922-82292879			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0097197;tetraspanin-enriched microdomain;IEA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN14	https://www.uniprot.org/uniprot/Q8NG11			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN14&submit=Quick%0D%3686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN14	rs3839926	0.685703	0	0	1	0	0	downstream	intergenic	UTR3	LOC101929574	TSPAN14(dist=6916),SH2D4B(dist=8351)	ENSG00000108219(ENST00000429989:c.*11575G>GC)	Na	Na	Na	Na	Na	Na	Het;+C	177;16|7	Hom;+C	367;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	82703649	82703649	C	T	snp	intergenic	 	 	 	 	WARS2P1																		rs12240616	0.141573	0	0	1	0	0	intergenic	intergenic	intergenic	SH2D4B(dist=297333),NRG3(dist=931421)	SH2D4B(dist=297333),hsa-miR-3198-3p(dist=200809)	ENSG00000227209(dist=2692),ENSG00000226466(dist=192647)	Na	Na	Na	Na	Na	Na	Het;C>T	91;3|4	Hom;C>T	112;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83153864	83153864	C	A	snp	intergenic	 	 	 	 	ENSG00000265990																		rs4933771	0.210663	0	0	1	0	0	intergenic	intergenic	intergenic	SH2D4B(dist=747548),NRG3(dist=481206)	hsa-miR-3198-3p(dist=249387),Mir_544(dist=313381)	ENSG00000265990(dist=249377),ENSG00000185737(dist=481206)	Na	Na	Na	Na	Na	Na	Het;C>A	72;1|4	Hom;C>A	323;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83398476	83398476	T	G	snp	intergenic	 	 	 	 	ENSG00000265990																		rs58080086	0.253594	0	0	1	0	0	intergenic	intergenic	intergenic	SH2D4B(dist=992160),NRG3(dist=236594)	hsa-miR-3198-3p(dist=493999),Mir_544(dist=68769)	ENSG00000265990(dist=493989),ENSG00000185737(dist=236594)	Na	Na	Na	Na	Na	Na	Het;T>G	64;1|3	Hom;T>G	265;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83837883	83837883	T	A	snp	intronic	 	 	 	 	NRG3	Nrg3	ENSG00000185737	neuregulin 3	chr10:83635070-84746935	This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]	Echocardiography; Heart Failure; Erythrocytes; Esophagitis; Hip; Receptors, Tumor Necrosis Factor, Type II; Hemoglobins; Asthma; Magnesium; Hemoglobin A, Glycosylated; Breath Tests; Blood Pressure; response to iloperidone treatment (QT prolongation); Chronic renal failure|Kidney Failure, Chronic; Aorta; Respiratory Function Tests; Tobacco Use Disorder; Schizophrenia; Psychiatric Disorders; Diabetic Nephropathies; Adiponectin; Cholesterol, HDL; Cholesterol, LDL; Body Weight; Cholesterol; parental expressed emotion | ADHD; Glucose; Isoxazoles; Alcoholism; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Pancreatic Neoplasms; several psychiatric disorders; Erythrocyte Count; Heart Rate	Mutations in this gene result in abnormal, genetic background specific, mammary gland development. Male mice homozygous for a knock-out allele show novelty-induced hyperactivity, decreased prepulse inhibition, and impaired cued conditioning behavior.	Downregulation of ERBB2 signaling	GO:0001558;regulation of cell growth;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007389;pattern specification process;IEA|GO:0021842;chemorepulsion involved in interneuron migration from the subpallium to the cortex;IEA|GO:0030879;mammary gland development;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0060596;mammary placode formation;IEA|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008083;growth factor activity;IEA|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0030971;receptor tyrosine kinase binding;NAS|GO:0045499;chemorepellent activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRG3			https://www.ncbi.nlm.nih.gov/omim/?term=605533	http://www.informatics.jax.org/searchtool/Search.do?query=NRG3&submit=Quick%0D%15478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRG3	rs72825428	0.0383387	0	0	1	0	0	intronic	intronic	intronic	NRG3	NRG3	ENSG00000185737	Na	Na	Na	Na	Na	Na	Het;T>A	171;4|8	Hom;T>A	445;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83988642	83988642	C	T	snp	ncRNA_intronic	 	 	 	 	AC010157.1																		rs1764091	0.0980431	0	0	1	0	0	intronic	intronic	ncRNA_intronic	NRG3	NRG3	ENSG00000229458	Na	Na	Na	Na	Na	Na	Het;C>T	89;5|4	Hom;C>T	294;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83988719	83988719	T	G	snp	ncRNA_exonic	 	 	 	 	AC010157.1																		rs1764092	0.0976438	0	0	1	0	0	intronic	intronic	ncRNA_exonic	NRG3	NRG3	ENSG00000229458	Na	Na	Na	Na	Na	Na	Het;T>G	877;27|23	Hom;T>G	2582;0|58
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83988724	83988724	G	A	snp	ncRNA_exonic	 	 	 	 	AC010157.1																		rs1764093	0.0976438	0	0	1	0	0	intronic	intronic	ncRNA_exonic	NRG3	NRG3	ENSG00000229458	Na	Na	Na	Na	Na	Na	Het;G>A	855;28|24	Hom;G>A	2631;0|60
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83988809	83988809	T	G	snp	ncRNA_exonic	 	 	 	 	AC010157.1																		rs1764094	0.0984425	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	NRG3-AS1	NRG3	ENSG00000229458	Na	Na	Na	Na	Na	Na	Het;T>G	631;28|31	Hom;T>G	1336;0|47
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	83990050	83990050	G	A	snp	ncRNA_exonic	 	 	 	 	NRG3-AS1																		rs1764096	0.0980431	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	NRG3-AS1	NRG3	ENSG00000225738	Na	Na	Na	Na	Na	Na	Het;G>A	898;31|42	Hom;G>A	1869;0|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	84718677	84718677	A	G	snp	intronic	 	 	 	 	NRG3	Nrg3	ENSG00000185737	neuregulin 3	chr10:83635070-84746935	This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]	Echocardiography; Heart Failure; Erythrocytes; Esophagitis; Hip; Receptors, Tumor Necrosis Factor, Type II; Hemoglobins; Asthma; Magnesium; Hemoglobin A, Glycosylated; Breath Tests; Blood Pressure; response to iloperidone treatment (QT prolongation); Chronic renal failure|Kidney Failure, Chronic; Aorta; Respiratory Function Tests; Tobacco Use Disorder; Schizophrenia; Psychiatric Disorders; Diabetic Nephropathies; Adiponectin; Cholesterol, HDL; Cholesterol, LDL; Body Weight; Cholesterol; parental expressed emotion | ADHD; Glucose; Isoxazoles; Alcoholism; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Pancreatic Neoplasms; several psychiatric disorders; Erythrocyte Count; Heart Rate	Mutations in this gene result in abnormal, genetic background specific, mammary gland development. Male mice homozygous for a knock-out allele show novelty-induced hyperactivity, decreased prepulse inhibition, and impaired cued conditioning behavior.	Downregulation of ERBB2 signaling	GO:0001558;regulation of cell growth;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007389;pattern specification process;IEA|GO:0021842;chemorepulsion involved in interneuron migration from the subpallium to the cortex;IEA|GO:0030879;mammary gland development;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0060596;mammary placode formation;IEA|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008083;growth factor activity;IEA|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0030971;receptor tyrosine kinase binding;NAS|GO:0045499;chemorepellent activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRG3			https://www.ncbi.nlm.nih.gov/omim/?term=605533	http://www.informatics.jax.org/searchtool/Search.do?query=NRG3&submit=Quick%0D%15478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRG3	rs17101139	0.113818	0.1053	0.0843	1	0	0	intronic	intronic	intronic	NRG3	NRG3	ENSG00000185737	Na	Na	Na	Na	Na	Na	Het;A>G	805;50|35	Hom;A>G	1809;0|60
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	84744926	84744926	C	A	snp	nonsynonymous SNV	C1065A	N355K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	NRG3	Nrg3	ENSG00000185737	neuregulin 3	chr10:83635070-84746935	This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]	Echocardiography; Heart Failure; Erythrocytes; Esophagitis; Hip; Receptors, Tumor Necrosis Factor, Type II; Hemoglobins; Asthma; Magnesium; Hemoglobin A, Glycosylated; Breath Tests; Blood Pressure; response to iloperidone treatment (QT prolongation); Chronic renal failure|Kidney Failure, Chronic; Aorta; Respiratory Function Tests; Tobacco Use Disorder; Schizophrenia; Psychiatric Disorders; Diabetic Nephropathies; Adiponectin; Cholesterol, HDL; Cholesterol, LDL; Body Weight; Cholesterol; parental expressed emotion | ADHD; Glucose; Isoxazoles; Alcoholism; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Pancreatic Neoplasms; several psychiatric disorders; Erythrocyte Count; Heart Rate	Mutations in this gene result in abnormal, genetic background specific, mammary gland development. Male mice homozygous for a knock-out allele show novelty-induced hyperactivity, decreased prepulse inhibition, and impaired cued conditioning behavior.	Downregulation of ERBB2 signaling	GO:0001558;regulation of cell growth;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007389;pattern specification process;IEA|GO:0021842;chemorepulsion involved in interneuron migration from the subpallium to the cortex;IEA|GO:0030879;mammary gland development;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0060596;mammary placode formation;IEA|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008083;growth factor activity;IEA|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0030971;receptor tyrosine kinase binding;NAS|GO:0045499;chemorepellent activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRG3			https://www.ncbi.nlm.nih.gov/omim/?term=605533	http://www.informatics.jax.org/searchtool/Search.do?query=NRG3&submit=Quick%0D%15478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRG3	rs17101193	0.0952476	0.0908	0.0764	0.15	2	13	exonic	exonic	exonic	NRG3	NRG3	ENSG00000185737	nonsynonymous SNV	nonsynonymous SNV	unknown	NRG3:NM_001165973:exon11:c.C1065A:p.N355K,NRG3:NM_001165972:exon9:c.C1653A:p.N551K,NRG3:NM_001010848:exon9:c.C1656A:p.N552K,	NRG3:uc001kcq.2:exon11:c.C606A:p.N202K,NRG3:uc021pvf.1:exon9:c.C606A:p.N202K,NRG3:uc021pvg.1:exon11:c.C1140A:p.N380K,NRG3:uc021pvl.1:exon7:c.C606A:p.N202K,NRG3:uc001kcp.2:exon11:c.C1065A:p.N355K,NRG3:uc001kco.2:exon9:c.C1656A:p.N552K,NRG3:uc001kcr.2:exon9:c.C678A:p.N226K,NRG3:uc021pvc.1:exon10:c.C1728A:p.N576K,NRG3:uc010qlz.1:exon9:c.C1653A:p.N551K,NRG3:uc021pvi.1:exon11:c.C1146A:p.N382K,NRG3:uc021pvh.1:exon12:c.C492A:p.N164K,NRG3:uc021pvd.1:exon10:c.C993A:p.N331K,NRG3:uc021pvk.1:exon10:c.C276A:p.N92K,NRG3:uc021pve.1:exon10:c.C1068A:p.N356K,	UNKNOWN	Het;C>A	1382;113|75	Hom;C>A	3798;2|141
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	84745040	84745040	A	G	snp	synonymous SNV	A720G	P240P	hydrophobic,neutral	hydrophobic,neutral	NRG3	Nrg3	ENSG00000185737	neuregulin 3	chr10:83635070-84746935	This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]	Echocardiography; Heart Failure; Erythrocytes; Esophagitis; Hip; Receptors, Tumor Necrosis Factor, Type II; Hemoglobins; Asthma; Magnesium; Hemoglobin A, Glycosylated; Breath Tests; Blood Pressure; response to iloperidone treatment (QT prolongation); Chronic renal failure|Kidney Failure, Chronic; Aorta; Respiratory Function Tests; Tobacco Use Disorder; Schizophrenia; Psychiatric Disorders; Diabetic Nephropathies; Adiponectin; Cholesterol, HDL; Cholesterol, LDL; Body Weight; Cholesterol; parental expressed emotion | ADHD; Glucose; Isoxazoles; Alcoholism; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Pancreatic Neoplasms; several psychiatric disorders; Erythrocyte Count; Heart Rate	Mutations in this gene result in abnormal, genetic background specific, mammary gland development. Male mice homozygous for a knock-out allele show novelty-induced hyperactivity, decreased prepulse inhibition, and impaired cued conditioning behavior.	Downregulation of ERBB2 signaling	GO:0001558;regulation of cell growth;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007389;pattern specification process;IEA|GO:0021842;chemorepulsion involved in interneuron migration from the subpallium to the cortex;IEA|GO:0030879;mammary gland development;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0060596;mammary placode formation;IEA|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008083;growth factor activity;IEA|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0030971;receptor tyrosine kinase binding;NAS|GO:0045499;chemorepellent activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRG3			https://www.ncbi.nlm.nih.gov/omim/?term=605533	http://www.informatics.jax.org/searchtool/Search.do?query=NRG3&submit=Quick%0D%15478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRG3	rs17101196	0.0952476	0.0913	0.0765	1	0	0	exonic	exonic	exonic	NRG3	NRG3	ENSG00000185737	synonymous SNV	synonymous SNV	unknown	NRG3:NM_001165973:exon11:c.A1179G:p.P393P,NRG3:NM_001165972:exon9:c.A1767G:p.P589P,NRG3:NM_001010848:exon9:c.A1770G:p.P590P,	NRG3:uc001kcq.2:exon11:c.A720G:p.P240P,NRG3:uc021pvf.1:exon9:c.A720G:p.P240P,NRG3:uc021pvg.1:exon11:c.A1254G:p.P418P,NRG3:uc021pvl.1:exon7:c.A720G:p.P240P,NRG3:uc001kcp.2:exon11:c.A1179G:p.P393P,NRG3:uc001kco.2:exon9:c.A1770G:p.P590P,NRG3:uc001kcr.2:exon9:c.A792G:p.P264P,NRG3:uc021pvc.1:exon10:c.A1842G:p.P614P,NRG3:uc010qlz.1:exon9:c.A1767G:p.P589P,NRG3:uc021pvi.1:exon11:c.A1260G:p.P420P,NRG3:uc021pvh.1:exon12:c.A606G:p.P202P,NRG3:uc021pvd.1:exon10:c.A1107G:p.P369P,NRG3:uc021pvk.1:exon10:c.A390G:p.P130P,NRG3:uc021pve.1:exon10:c.A1182G:p.P394P,	UNKNOWN	Het;A>G	997;95|48	Hom;A>G	2805;4|106
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	84845476	84845476	G	C	snp	intergenic	 	 	 	 	RNU6-478P																		rs17101298	0.0662939	0	0	1	0	0	intergenic	intergenic	intergenic	NRG3(dist=98541),GHITM(dist=1053709)	NRG3(dist=98541),U6(dist=678638)	ENSG00000200774(dist=17649),ENSG00000234931(dist=225908)	Na	Na	Na	Na	Na	Na	Het;G>C	476;27|24	Hom;G>C	1060;0|39
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	85045200	85045200	T	C	snp	intergenic	 	 	 	 	RNU6-478P																		rs76608573	0.0415335	0	0	1	0	0	intergenic	intergenic	intergenic	NRG3(dist=298265),GHITM(dist=853985)	NRG3(dist=298265),U6(dist=478914)	ENSG00000200774(dist=217373),ENSG00000234931(dist=26184)	Na	Na	Na	Na	Na	Na	Het;T>C	94;10|7	Hom;T>C	328;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	85936160	85936160	T	C	snp	intronic	 	 	 	 	C10orf99		ENSG00000188373	chromosome 10 open reading frame 99	chr10:85933494-85945050			Homozygous mutant mice exhibit an increased mean serum IgG2a response to ovalbumin challenge.		GO:0042742;defense response to bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0050832;defense response to fungus;IDA|GO:0051782;negative regulation of cell division;IDA|GO:1902807;negative regulation of cell cycle G1/S phase transition;IDA	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C10orf99				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf99&submit=Quick%0D%16023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf99	rs4348833	0.164537	0	0	1	0	0	intronic	intronic	intronic	C10orf99	C10orf99	ENSG00000188373	Na	Na	Na	Na	Na	Na	Het;T>C	327;7|12	Hom;T>C	576;0|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	85955440	85955440	C	T	snp	intronic	 	 	 	 	CDHR1	Cdhr1	ENSG00000148600	cadherin related family member 1	chr10:85954410-85979377	This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]	retinitis pigmentosa; Leber congenital amaurosis; Usher Syndrome Type I; Cholesterol; Alzheimer's disease 	Mice homozygous for a targeted null mutation exhibit progressive degeneration of retinal photoreceptor cells and a slight reduction in light responses.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0009987;cellular process;IEA|GO:0045494;photoreceptor cell maintenance;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042622;photoreceptor outer segment membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDHR1	https://www.uniprot.org/uniprot/Q96JP9	https://hpo.jax.org/app/browse/search?q=CDHR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609502	http://www.informatics.jax.org/searchtool/Search.do?query=CDHR1&submit=Quick%0D%9136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDHR1	rs11592361	0.0932508	0	0	1	0	0	intronic	intronic	intronic	CDHR1	CDHR1	ENSG00000148600	Na	Na	Na	Na	Na	Na	Het;C>T	323;11|16	Hom;C>T	807;1|29
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86048061	86048061	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00858																		rs4366428	0.430711	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00858	LINC00858	ENSG00000229404	Na	Na	Na	Na	Na	Na	Het;C>A	933;49|48	Hom;C>A	1678;2|66
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86053174	86053174	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00858																		rs7898509	0.847244	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00858	LINC00858	ENSG00000229404	Na	Na	Na	Na	Na	Na	Het;T>C	1827;109|89	Hom;T>C	5839;0|209
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86054116	86054116	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00858																		rs11200968	0.303115	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00858	LINC00858	ENSG00000229404	Na	Na	Na	Na	Na	Na	Het;T>C	582;35|23	Hom;T>C	1621;0|54
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86273605	86273605	C	T	snp	nonsynonymous SNV	C1007T	P336L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCSER2	Ccser2	ENSG00000107771	coiled-coil serine rich protein 2	chr10:86088342-86278273		Tobacco Use Disorder; Lipids; Triglycerides; Alzheimer's disease 	 		GO:0001578;microtubule bundle formation;IEA	GO:0015630;microtubule cytoskeleton;IEA	GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCSER2	https://www.uniprot.org/uniprot/Q9H7U1			http://www.informatics.jax.org/searchtool/Search.do?query=CCSER2&submit=Quick%0D%3634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCSER2	rs117675200	0.00119808	0	0.0012	0.09	1	11	exonic	exonic	exonic	CCSER2	CCSER2	ENSG00000107771	nonsynonymous SNV	nonsynonymous SNV	unknown	CCSER2:NM_001284242:exon7:c.C1007T:p.P336L,CCSER2:NM_001284240:exon10:c.C2726T:p.P909L,	CCSER2:uc010qmd.1:exon10:c.C2726T:p.P909L,	UNKNOWN	Het;C>T	1289;83|66	Hom;C>T	3164;2|112
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86424102	86424102	G	A	snp	intergenic	 	 	 	 	RPS3AP5																		rs147903956	0.0105831	0	0	1	0	0	intergenic	intergenic	intergenic	CCSER2(dist=145825),LINC01519(dist=529075)	CCSER2(dist=145826),Mir_544(dist=198913)	ENSG00000178429(dist=103083),ENSG00000238469(dist=198919)	Na	Na	Na	Na	Na	Na	Het;G>A	355;46|22	Hom;G>A	1667;2|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86424243	86424245	CGT	C	indel	intergenic	 	 	 	 	RPS3AP5																		rs142540587	0.0519169	0	0	1	0	0	intergenic	intergenic	intergenic	CCSER2(dist=145966),LINC01519(dist=528932)	CCSER2(dist=145967),Mir_544(dist=198770)	ENSG00000178429(dist=103224),ENSG00000238469(dist=198776)	Na	Na	Na	Na	Na	Na	Het;-GT	72;2|3	Hom;-GT	171;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86823898	86823898	A	C	snp	intergenic	 	 	 	 	ENSG00000238469																		rs7094878	0.551318	0	0	1	0	0	intergenic	intergenic	intergenic	CCSER2(dist=545621),LINC01519(dist=129279)	Mir_544(dist=200780),AK097624(dist=129279)	ENSG00000238469(dist=200780),ENSG00000237267(dist=129279)	Na	Na	Na	Na	Na	Na	Het;A>C	76;2|3	Hom;A>C	275;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86824095	86824095	A	G	snp	intergenic	 	 	 	 	ENSG00000238469																		rs71487162	0.0359425	0	0	1	0	0	intergenic	intergenic	intergenic	CCSER2(dist=545818),LINC01519(dist=129082)	Mir_544(dist=200977),AK097624(dist=129082)	ENSG00000238469(dist=200977),ENSG00000237267(dist=129082)	Na	Na	Na	Na	Na	Na	Het;A>G	130;1|6	Hom;A>G	191;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86953170	86953170	C	G	snp	downstream	 	 	 	 	LINC01519																		rs1339910	0.285543	0	0	1	0	0	downstream	downstream	downstream	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;C>G	243;8|12	Hom;C>G	825;0|28
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86953389	86953389	C	CTG	indel	ncRNA_exonic	 	 	 	 	LINC01519																		rs5786691	0.305711	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;+TG	3264;89|85	Hom;+TG	7550;2|173
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86955624	86955624	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01519																		rs11201447	0.30611	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;C>T	688;35|31	Hom;C>T	1980;0|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86955712	86955712	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01519																		rs11201448	0.285343	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;C>T	1058;59|51	Hom;C>T	2119;0|76
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86955768	86955768	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01519																		rs34652834	0.108626	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;G>A	803;60|40	Hom;G>A	2137;0|75
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86955803	86955803	G	C	snp	ncRNA_exonic	 	 	 	 	LINC01519																		rs11201449	0.285343	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;G>C	1023;62|46	Hom;G>C	2558;0|89
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86956343	86956343	C	G	snp	ncRNA_exonic	 	 	 	 	LINC01519																		rs35980769	0.108626	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;C>G	1336;47|57	Hom;C>G	2923;4|100
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86956596	86956597	TG	T	indel	ncRNA_exonic	 	 	 	 	LINC01519																		rs34243214	0.285144	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;-G	1713;42|55	Hom;-G	3919;2|108
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86957751	86957751	T	C	snp	upstream	 	 	 	 	LINC01519																		rs2050795	0.304313	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	upstream	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;T>C	313;22|15	Hom;T>C	731;0|22
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	86958447	86958447	C	T	snp	upstream	 	 	 	 	LINC01519																		rs34480511	0.0157748	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	upstream	LINC01519	AK097624	ENSG00000237267	Na	Na	Na	Na	Na	Na	Het;C>T	692;21|29	Hom;C>T	1081;0|39
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	87108813	87108813	G	A	snp	intergenic	 	 	 	 	LINC01519																		rs7084435	0.392173	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01519(dist=150119),LOC101929646(dist=82886)	AK097624(dist=150119),GRID1-AS1(dist=228675)	ENSG00000237267(dist=151099),ENSG00000223993(dist=82886)	Na	Na	Na	Na	Na	Na	Het;G>A	257;6|12	Hom;G>A	308;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	88024553	88024553	C	T	snp	intronic	 	 	 	 	GRID1	Grid1	ENSG00000182771	glutamate ionotropic receptor delta type subunit 1	chr10:87359312-88126250	This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]	schizophrenia; schizoaffective disorder; bipolar disorder; Tobacco Use Disorder; Body Weight; Aorta; Cardiac structure and function; Waist-Hip Ratio; Triglycerides; Walking; Cardiovascular Diseases|Ventricular Dysfunction, Left; Cholesterol, HDL; schizophrenia; Hemoglobin A, Glycosylated	Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035176;social behavior;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0060079;excitatory postsynaptic potential;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRID1			https://www.ncbi.nlm.nih.gov/omim/?term=610659	http://www.informatics.jax.org/searchtool/Search.do?query=GRID1&submit=Quick%0D%14852ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRID1	rs10887569	0.410942	0.5245	0.5902	1	0	0	intronic	intronic	intronic	GRID1	GRID1	ENSG00000182771	Na	Na	Na	Na	Na	Na	Het;C>T	96;13|7	Hom;C>T	814;0|31
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	88705561	88705561	C	T	snp	unknown	 	 	 	 	MMRN2	Mmrn2	ENSG00000173269	multimerin 2	chr10:88695297-88729238	This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]		 		GO:0001525;angiogenesis;IEA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MMRN2			https://www.ncbi.nlm.nih.gov/omim/?term=608925	http://www.informatics.jax.org/searchtool/Search.do?query=MMRN2&submit=Quick%0D%13328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMRN2	Na	0	0	0	1	0	0	intronic	intronic	exonic	MMRN2	MMRN2	ENSG00000173269	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	64;5|4	Hom;C>T	179;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	89102713	89102713	G	A	snp	ncRNA_exonic	 	 	 	 	LOC439994																		rs7914146	0.163938	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC439994	BC082979,LOC439994	ENSG00000224914	Na	Na	Na	Na	Na	Na	Het;G>A	4097;18|104	Hom;G>A	4264;0|100
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	89102733	89102733	C	T	snp	ncRNA_exonic	 	 	 	 	LOC439994																		rs7915148	0.115016	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC439994	BC082979,LOC439994	ENSG00000224914	Na	Na	Na	Na	Na	Na	Het;C>T	4117;36|108	Hom;C>T	4404;0|104
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	89156613	89156613	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00864																		rs9421624	0.273962	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	LINC00864	LINC00864	ENSG00000228055	Na	Na	Na	Na	Na	Na	Het;G>C	103;2|4	Hom;G>C	111;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	89264593	89264593	C	G	snp	UTR5	-80C>G	 	 	 	MINPP1	Minpp1	ENSG00000107789	multiple inositol-polyphosphate phosphatase 1	chr10:89264632-89313217	This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]	Longevity; Schizophrenia; Alzheimer's disease 	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal chondrocyte and bone development.	Synthesis of IPs in the ER lumen	GO:0001503;ossification;NAS|GO:0006797;polyphosphate metabolic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0030282;bone mineralization;NAS|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005783;endoplasmic reticulum;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003993;acid phosphatase activity;IBA|GO:0004446;inositol-hexakisphosphate phosphatase activity;IEA|GO:0008969;phosphohistidine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0030351;inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity;TAS|GO:0034417;bisphosphoglycerate 3-phosphatase activity;IDA|GO:0051717;inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity;TAS|GO:0052745;inositol phosphate phosphatase activity;NAS|GO:0052826;inositol hexakisphosphate 2-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MINPP1	https://www.uniprot.org/uniprot/Q9UNW1	https://hpo.jax.org/app/browse/search?q=MINPP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605391	http://www.informatics.jax.org/searchtool/Search.do?query=MINPP1&submit=Quick%0D%3636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MINPP1	rs2233166	0.0133786	0	0	1	0	0	UTR5	UTR5	upstream	MINPP1(NM_001178117:c.-80C>G,NM_004897:c.-80C>G)	MINPP1(uc001keu.3:c.-80C>G,uc001kev.3:c.-80C>G)	ENSG00000107789	Na	Na	Na	Na	Na	Na	Het;C>G	362;18|15	Hom;C>G	924;0|31
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	89267957	89267957	C	T	snp	UTR5	-5C>T	 	 	 	MINPP1	Minpp1	ENSG00000107789	multiple inositol-polyphosphate phosphatase 1	chr10:89264632-89313217	This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]	Longevity; Schizophrenia; Alzheimer's disease 	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal chondrocyte and bone development.	Synthesis of IPs in the ER lumen	GO:0001503;ossification;NAS|GO:0006797;polyphosphate metabolic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0030282;bone mineralization;NAS|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005783;endoplasmic reticulum;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003993;acid phosphatase activity;IBA|GO:0004446;inositol-hexakisphosphate phosphatase activity;IEA|GO:0008969;phosphohistidine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0030351;inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity;TAS|GO:0034417;bisphosphoglycerate 3-phosphatase activity;IDA|GO:0051717;inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity;TAS|GO:0052745;inositol phosphate phosphatase activity;NAS|GO:0052826;inositol hexakisphosphate 2-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MINPP1	https://www.uniprot.org/uniprot/Q9UNW1	https://hpo.jax.org/app/browse/search?q=MINPP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605391	http://www.informatics.jax.org/searchtool/Search.do?query=MINPP1&submit=Quick%0D%3636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MINPP1	rs3843597	0.744808	0	0.7176	1	0	0	UTR5	UTR5	UTR5	MINPP1(NM_001178118:c.-5C>T)	MINPP1(uc021pvv.1:c.-5C>T)	ENSG00000107789(ENST00000536010:c.-5C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	377;10|18	Hom;C>T	701;0|26
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90074140	90074140	G	A	snp	intronic	 	 	 	 	RNLS	Rnls	ENSG00000184719	renalase, FAD dependent amine oxidase	chr10:90033621-90344287	Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]	type 1 diabetes; Schizophrenia; Heart Rate; Alzheimer's disease ; hypertension	Mice homozygous for a knock-out allele exhibit aggravated ischemic myocardial damage, increased heart rate, increased blood pressure and increased serum levels of dopamine, adrenaline and noradrenaline.	Nicotinamide salvaging	GO:0002931;response to ischemia;IEA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071869;response to catecholamine;IEA|GO:0071871;response to epinephrine;IEA|GO:1902074;response to salt;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0016491;oxidoreductase activity;IEA|GO:0016651;oxidoreductase activity, acting on NAD(P)H;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RNLS			https://www.ncbi.nlm.nih.gov/omim/?term=609360	http://www.informatics.jax.org/searchtool/Search.do?query=RNLS&submit=Quick%0D%15263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNLS	rs11202710	0.279752	0	0	1	0	0	intronic	intronic	intronic	RNLS	RNLS	ENSG00000184719	Na	Na	Na	Na	Na	Na	Het;G>A	256;1|6	Hom;G>A	377;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90074145	90074145	A	G	snp	intronic	 	 	 	 	RNLS	Rnls	ENSG00000184719	renalase, FAD dependent amine oxidase	chr10:90033621-90344287	Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]	type 1 diabetes; Schizophrenia; Heart Rate; Alzheimer's disease ; hypertension	Mice homozygous for a knock-out allele exhibit aggravated ischemic myocardial damage, increased heart rate, increased blood pressure and increased serum levels of dopamine, adrenaline and noradrenaline.	Nicotinamide salvaging	GO:0002931;response to ischemia;IEA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071869;response to catecholamine;IEA|GO:0071871;response to epinephrine;IEA|GO:1902074;response to salt;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0016491;oxidoreductase activity;IEA|GO:0016651;oxidoreductase activity, acting on NAD(P)H;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RNLS			https://www.ncbi.nlm.nih.gov/omim/?term=609360	http://www.informatics.jax.org/searchtool/Search.do?query=RNLS&submit=Quick%0D%15263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNLS	rs11202711	0.256589	0	0	1	0	0	intronic	intronic	intronic	RNLS	RNLS	ENSG00000184719	Na	Na	Na	Na	Na	Na	Het;A>G	277;1|8	Hom;A>G	451;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90342837	90342837	C	G	snp	nonsynonymous SNV	G111C	E37D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	RNLS	Rnls	ENSG00000184719	renalase, FAD dependent amine oxidase	chr10:90033621-90344287	Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]	type 1 diabetes; Schizophrenia; Heart Rate; Alzheimer's disease ; hypertension	Mice homozygous for a knock-out allele exhibit aggravated ischemic myocardial damage, increased heart rate, increased blood pressure and increased serum levels of dopamine, adrenaline and noradrenaline.	Nicotinamide salvaging	GO:0002931;response to ischemia;IEA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071869;response to catecholamine;IEA|GO:0071871;response to epinephrine;IEA|GO:1902074;response to salt;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0016491;oxidoreductase activity;IEA|GO:0016651;oxidoreductase activity, acting on NAD(P)H;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RNLS			https://www.ncbi.nlm.nih.gov/omim/?term=609360	http://www.informatics.jax.org/searchtool/Search.do?query=RNLS&submit=Quick%0D%15263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNLS	rs2296545	0.478235	0.4692	0.4600	0.08	1	13	exonic	exonic	exonic	RNLS	RNLS	ENSG00000184719	nonsynonymous SNV	nonsynonymous SNV	unknown	RNLS:NM_001031709:exon1:c.G111C:p.E37D,RNLS:NM_018363:exon1:c.G111C:p.E37D,	RNLS:uc001kfd.2:exon1:c.G111C:p.E37D,RNLS:uc010qms.1:exon1:c.G111C:p.E37D,RNLS:uc001kfe.3:exon1:c.G111C:p.E37D,	UNKNOWN	Het;C>G	882;60|47	Hom;C>G	3349;2|132
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90486463	90486463	A	G	snp	intronic	 	 	 	 	LIPK	Lipk	ENSG00000204021	lipase family member K	chr10:90484301-90512543			 	Formation of the cornified envelope	GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPK			https://www.ncbi.nlm.nih.gov/omim/?term=613922	http://www.informatics.jax.org/searchtool/Search.do?query=LIPK&submit=Quick%0D%17187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPK	rs140761079	0.000199681	0	0	1	0	0	intronic	intronic	intronic	LIPK	LIPK	ENSG00000204021	Na	Na	Na	Na	Na	Na	Het;A>G	110;6|4	Hom;A>G	597;1|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90674434	90674434	A	AAT	indel	intronic	 	 	 	 	STAMBPL1	Stambpl1	ENSG00000138134	STAM binding protein like 1	chr10:90639491-90734910		Blood Flow Velocity; Heart Rate; Heart Failure; Alzheimer's disease ; Intercellular Adhesion Molecule-1; Blood Cells	 	Metalloprotease DUBs	GO:0006508;proteolysis;IEA|GO:0016579;protein deubiquitination;TAS|GO:0070536;protein K63-linked deubiquitination;IEA	GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061578;Lys63-specific deubiquitinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/STAMBPL1	https://www.uniprot.org/uniprot/Q96FJ0		https://www.ncbi.nlm.nih.gov/omim/?term=612352	http://www.informatics.jax.org/searchtool/Search.do?query=STAMBPL1&submit=Quick%0D%7681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAMBPL1	rs143062007	0	0.0790	0.1348	1	0	0	intronic	intronic	intronic	STAMBPL1	STAMBPL1	ENSG00000138134	Na	Na	Na	Na	Na	Na	Het;+AT	682;4|25	Hom;+AT	1012;1|32
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90680951	90680951	T	TA	indel	intronic	 	 	 	 	STAMBPL1	Stambpl1	ENSG00000138134	STAM binding protein like 1	chr10:90639491-90734910		Blood Flow Velocity; Heart Rate; Heart Failure; Alzheimer's disease ; Intercellular Adhesion Molecule-1; Blood Cells	 	Metalloprotease DUBs	GO:0006508;proteolysis;IEA|GO:0016579;protein deubiquitination;TAS|GO:0070536;protein K63-linked deubiquitination;IEA	GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061578;Lys63-specific deubiquitinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/STAMBPL1	https://www.uniprot.org/uniprot/Q96FJ0		https://www.ncbi.nlm.nih.gov/omim/?term=612352	http://www.informatics.jax.org/searchtool/Search.do?query=STAMBPL1&submit=Quick%0D%7681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAMBPL1	rs139970435	0.0966454	0	0	1	0	0	intronic	intronic	intronic	STAMBPL1	STAMBPL1	ENSG00000138134	Na	Na	Na	Na	Na	Na	Het;+A	70;13|6	Hom;+A	406;1|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90693705	90693705	C	T	snp	ncRNA_intronic	 	 	 	 	AX748062																		rs17446483	0.0439297	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ACTA2-AS1	AX748062	ENSG00000180139	Na	Na	Na	Na	Na	Na	Het;C>T	89;19|6	Hom;C>T	507;0|18
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90774772	90774772	A	T	snp	UTR3	*565A>T	 	 	 	FAS	Fas	ENSG00000026103	Fas cell surface death receptor	chr10:90750414-90775542	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]	breast cancer; Premature Birth; renal allograft rejection; melanoma; extranodal disease; Lymphocytosis|Lymphoproliferative Disorders; hepatitis C; esophageal adenocarcinoma; HTLV-I Infections|Leukemia, T-Cell; lymphoma; Alopecia Areata; Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Uterine Cervical Neoplasms; esophageal cancer ; Hepatitis C, Chronic|Necrosis; Eye Diseases; Graves Disease; esophageal cancer; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Bone Neoplasms|osteosarcoma; liver transplant; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary|Squamous cell carcinoma; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; thrombocytopenia; Lupus; benzene haematotoxicity; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Obesity; body mass diabetes, type 2 insulin; Fetal Growth Retardation; Longevity; Infertility, Male; chronic obstructive pulmonary disease; preeclampsia; intrauterine growth; obesity; stomach cancer; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Colorectal Neoplasms; heart transplant; systemic lupus erythematosus ; Alzheimer's Disease; Fetal Membranes, Premature Rupture; Leukemia, Myeloid, Acute; Breast Neoplasms|Neoplasms; Helicobacter Infections|Intestinal Neoplasms|Precancerous Conditions|Stomach Neoplasms; Nasopharyngeal Neoplasms; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; systemic sclerosis; cardiovascular risk| polycystic ovary syndrome ; melanoma|Skin Neoplasms; HIV; Sjogren's syndrome, primary; Crohn's disease; ulcerative colitis; Uterine Cervical Neoplasms; Hyperlipidemias|Hypertension|Myocardial Infarction; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; cervical cancer; Silicosis; Type 2 Diabetes| edema | rosiglitazone; Sjogren's syndrome; leukemia, myeloid; Heart Function Tests; neuropathy; longevity; lung cancer; patent ductus arteriosus; breast cancer ; preterm delivery; nasopharyngeal cancer; Alzheimer's disease; null; Autoimmune Lymphoproliferative Syndrome|Lymphoma; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Precancerous Conditions|Squamous cell carcinoma|Uterine Cervical Neoplasms; endometriosis; Stomach Neoplasms; Immunoglobulin A; preeclampsia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Hepatitis C, Chronic|HIV Infections|Liver Diseases; spondyloarthropathies; ovarian cancer; celiac disease; head and neck cancer; lung cancer ; Colitis, Ulcerative|Crohn Disease|; Glucose; Chronic renal failure|Kidney Failure, Chronic; colorectal cancer; DNA Damage|Glaucoma, Open-Angle|Mitochondrial Diseases; Scleroderma, Systemic; Heart Rate; multiple sclerosis; HIV-Associated Lipodystrophy Syndrome; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Carcinoma, Renal Cell|Renal Cell Carcinoma; Autoimmune Diseases|Lymphoma|Lymphoproliferative Disorders|Syndrome; Neoplasms, Prostatic|Prostatic Neoplasms; Heart Failure; thyroid cancer; Alzheimer's disease ; Inflammation|Premature Birth; Sarcoidosis; cirrhosis, biliary primary; hepatitis type 1, autoimmune (AIH-1); cervical intraepithelial neoplasia grade 3; systemic lupus erythematosus; Azoospermia|Oligospermia; Adenocarcinoma|Stomach Neoplasms; Carcinoma, Squamous Cell|Leukoplakia, Oral|Mouth Neoplasms|Oral Submucous Fibrosis|Precancerous Conditions|Squamous cell carcinoma; Cervical Neoplasm|Lymphatic Metastasis|Uterine Cervical Neoplasms; Diabetes Mellitus|Pancreatic Neoplasms; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C, Chronic|LCC - Liver cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Vitiligo; Type 2 diabetes; FAS levels; kidney transplant complications; bladder cancer; HELLP syndrome; cervical cancer endometrial cancer ovarian cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Neoplasms; Juvenile Idiopathic Arthritis; Infection|Inflammation|Premature Birth; Multiple Myeloma	Mutations in this locus affect immune function and homozygotes show varying severity of lymphadenopathy, splenomegaly, lymphocytic infiltrations, elevated immunoglobulin levels, autoantibodies, impaired clonal deletion of T cells, and lupus-like disease.	FasL/ CD95L signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002377;immunoglobulin production;IEA|GO:0003014;renal system process;IEA|GO:0006461;protein complex assembly;TAS|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0006924;activation-induced cell death of T cells;IEA|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IBA|GO:0007623;circadian rhythm;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:0009636;response to toxic substance;IEA|GO:0010467;gene expression;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0032464;positive regulation of protein homooligomerization;IEA|GO:0032496;response to lipopolysaccharide;IBA|GO:0032872;regulation of stress-activated MAPK cascade;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0036337;Fas signaling pathway;IMP|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045060;negative thymic T cell selection;IEA|GO:0045619;regulation of lymphocyte differentiation;IEA|GO:0045637;regulation of myeloid cell differentiation;IEA|GO:0048536;spleen development;IEA|GO:0050869;negative regulation of B cell activation;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0071285;cellular response to lithium ion;IEA|GO:0071455;cellular response to hyperoxia;IMP|GO:0097049;motor neuron apoptotic process;IEA|GO:0097190;apoptotic signaling pathway;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;TAS|GO:0097527;necroptotic signaling pathway;IMP|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:2001235;positive regulation of apoptotic signaling pathway;IMP|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002377;immunoglobulin production;IEA|GO:0003014;renal system process;IEA|GO:0006461;protein complex assembly;TAS|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0006924;activation-induced cell death of T cells;IEA|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IBA|GO:0007623;circadian rhythm;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:0009636;response to toxic substance;IEA|GO:0010467;gene expression;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0032464;positive regulation of protein homooligomerization;IEA|GO:0032496;response to lipopolysaccharide;IBA|GO:0032872;regulation of stress-activated MAPK cascade;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0036337;Fas signaling pathway;IMP|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045060;negative thymic T cell selection;IEA|GO:0045619;regulation of lymphocyte differentiation;IEA|GO:0045637;regulation of myeloid cell differentiation;IEA|GO:0048536;spleen development;IEA|GO:0050869;negative regulation of B cell activation;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0071285;cellular response to lithium ion;IEA|GO:0071455;cellular response to hyperoxia;IMP|GO:0097049;motor neuron apoptotic process;IEA|GO:0097190;apoptotic signaling pathway;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;TAS|GO:0097527;necroptotic signaling pathway;IMP|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:2001235;positive regulation of apoptotic signaling pathway;IMP|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005576;extracellular region;IEA|GO:0005739;mitochondrion;IBA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0031264;death-inducing signaling complex;IDA|GO:0031265;CD95 death-inducing signaling complex;IDA|GO:0045121;membrane raft;IDA|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;TAS|GO:0004872;receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0019900;kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043120;tumor necrosis factor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/FAS	https://www.uniprot.org/uniprot/P25445	https://hpo.jax.org/app/browse/search?q=FAS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134637	http://www.informatics.jax.org/searchtool/Search.do?query=FAS&submit=Quick%0D%65ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAS	rs1051070	0.0307508	0	0.0408	1	0	0	UTR3	UTR3	UTR3	FAS(NM_152871:c.*565A>T,NM_000043:c.*565A>T,NM_152872:c.*885A>T)	FAS(uc001kfr.3:c.*565A>T,uc001kfw.3:c.*931A>T,uc001kft.3:c.*565A>T,uc001kfs.3:c.*885A>T,uc031pwn.1:c.*896A>T)	ENSG00000026103(ENST00000355740:c.*565A>T)	Na	Na	Na	Na	Na	Na	Het;A>T	1236;64|62	Hom;A>T	4314;0|161
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90899232	90899232	T	TA	indel	downstream	 	 	 	 	AL513533.1																		rs149317574	0.136382	0	0	1	0	0	intergenic	intergenic	downstream	MIR4679-2(dist=76064),CH25H(dist=66462)	MIR4679-2(dist=76064),CH25H(dist=66462)	ENSG00000233292	Na	Na	Na	Na	Na	Na	Het;+A	545;25|25	Hom;+A	1606;0|57
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	90899444	90899444	T	C	snp	downstream	 	 	 	 	AL513533.1																		rs2841010	0.136382	0	0	1	0	0	intergenic	intergenic	downstream	MIR4679-2(dist=76276),CH25H(dist=66250)	MIR4679-2(dist=76276),CH25H(dist=66250)	ENSG00000233292	Na	Na	Na	Na	Na	Na	Het;T>C	492;21|24	Hom;T>C	904;0|34
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91066769	91066769	C	A	snp	nonsynonymous SNV	C1056A	D352E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	IFIT2	Ifit2	ENSG00000119922	interferon induced protein with tetratricopeptide repeats 2	chr10:91061712-91069033		Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit increased susuceptibility to VSV infection with increased lethality and brain viral titer.	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;IEA|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0009615;response to virus;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFIT2	https://www.uniprot.org/uniprot/P09913		https://www.ncbi.nlm.nih.gov/omim/?term=147040	http://www.informatics.jax.org/searchtool/Search.do?query=IFIT2&submit=Quick%0D%5138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT2	rs1727	0.878794	0.8122	0.8011	0.08	1	13	exonic	exonic	exonic	IFIT2	IFIT2	ENSG00000119922	nonsynonymous SNV	nonsynonymous SNV	unknown	IFIT2:NM_001547:exon2:c.C1056A:p.D352E,	IFIT2:uc009xts.3:exon2:c.C1056A:p.D352E,	UNKNOWN	Het;C>A	394;48|21	Hom;C>A	1903;1|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91162497	91162497	A	G	snp	synonymous SNV	A372G	K124K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	IFIT1	Ifit1bl2	ENSG00000185745	interferon induced protein with tetratricopeptide repeats 1	chr10:91152303-91163745	This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]	ovarian cancer; Alzheimer's disease ; Myocardial Infarction	Mice homozygous for a knock-out allele exhibit altered response to vesicular stomatitis virus (VSV) infection.	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0009615;response to virus;IMP|GO:0016032;viral process;IEA|GO:0019060;intracellular transport of viral protein in host cell;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0045070;positive regulation of viral genome replication;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0050688;regulation of defense response to virus;IEA|GO:0050689;negative regulation of defense response to virus by host;IDA|GO:0051097;negative regulation of helicase activity;IDA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0071357;cellular response to type I interferon;IDA|GO:0071360;cellular response to exogenous dsRNA;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0043657;host cell;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFIT1			https://www.ncbi.nlm.nih.gov/omim/?term=147690	http://www.informatics.jax.org/searchtool/Search.do?query=IFIT1&submit=Quick%0D%15481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT1	rs303211	0.976637	0.9586	0.9606	1	0	0	exonic	exonic	exonic	IFIT1	IFIT1	ENSG00000185745	synonymous SNV	synonymous SNV	unknown	IFIT1:NM_001270929:exon3:c.A372G:p.K124K,IFIT1:NM_001270928:exon3:c.A372G:p.K124K,IFIT1:NM_001548:exon2:c.A465G:p.K155K,IFIT1:NM_001270930:exon3:c.A372G:p.K124K,IFIT1:NM_001270927:exon3:c.A465G:p.K155K,	IFIT1:uc031pwq.1:exon3:c.A372G:p.K124K,IFIT1:uc001kgi.4:exon2:c.A465G:p.K155K,IFIT1:uc009xtt.4:exon3:c.A465G:p.K155K,IFIT1:uc031pwp.1:exon3:c.A372G:p.K124K,IFIT1:uc031pwo.1:exon3:c.A372G:p.K124K,IFIT1:uc031pwr.1:exon1:c.A372G:p.K124K,	UNKNOWN	Het;A>G	797;27|32	Hom;A>G	1600;0|53
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91222287	91222287	A	C	snp	nonsynonymous SNV	T49G	W17G	aromatic,hydrophobic,neutral	aliphatic,neutral	SLC16A12	Slc16a12	ENSG00000152779	solute carrier family 16 member 12	chr10:91190051-91316398	This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]	Cataract; Body Mass Index; Body Weight; Alzheimer's disease 	 		GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SLC16A12	https://www.uniprot.org/uniprot/Q6ZSM3	https://hpo.jax.org/app/browse/search?q=SLC16A12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611910	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A12&submit=Quick%0D%9591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A12	rs3740030	0.0688898	0.0637	0.0835	0.10	1	10	exonic	exonic	exonic	SLC16A12	SLC16A12	ENSG00000152779	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC16A12:NM_213606:exon3:c.T49G:p.W17G,	SLC16A12:uc001kgm.3:exon3:c.T49G:p.W17G,	UNKNOWN	Het;A>C	1462;109|72	Hom;A>C	3916;1|140
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91404448	91404448	C	G	snp	synonymous SNV	G612C	L204L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PANK1	Pank1	ENSG00000152782	pantothenate kinase 1	chr10:91342745-91405215	This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]	Tobacco Use Disorder; Insulin; metabolic traits; Alzheimer's disease ; other metabolic traits; HIV Infections|[X]Human immunodeficiency virus disease	Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting.	Coenzyme A biosynthesis	GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IEA|GO:0016310;phosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030118;clathrin coat;IEA|GO:0055037;recycling endosome;IEA|GO:0071944;cell periphery;IEA	GO:0000166;nucleotide binding;IEA|GO:0004594;pantothenate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PANK1	https://www.uniprot.org/uniprot/Q8TE04		https://www.ncbi.nlm.nih.gov/omim/?term=606160	http://www.informatics.jax.org/searchtool/Search.do?query=PANK1&submit=Quick%0D%9592ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PANK1	rs11185826	0.360823	0.2652	0.3943	1	0	0	exonic	exonic	exonic	PANK1	PANK1	ENSG00000152782	synonymous SNV	synonymous SNV	unknown	PANK1:NM_148977:exon1:c.G612C:p.L204L,	PANK1:uc001kgp.2:exon1:c.G612C:p.L204L,	UNKNOWN	Het;C>G	430;4|19	Hom;C>G	970;0|37
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91454628	91454628	G	A	snp	ncRNA_intronic	 	 	 	 	FLJ37201																		rs12773865	0.209065	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FLJ37201	FLJ37201	ENSG00000235100,ENSG00000240996	Na	Na	Na	Na	Na	Na	Het;G>A	724;26|31	Hom;G>A	1842;0|60
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91470660	91470660	T	G	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs7089473	0.357029	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;T>G	52;7|4	Hom;T>G	436;0|15
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91470834	91470834	A	C	snp	synonymous SNV	A607C	R203R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs1048057	0.463458	0.3446	0.3441	1	0	0	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	synonymous SNV	synonymous SNV	unknown	KIF20B:NM_001284259:exon6:c.A607C:p.R203R,KIF20B:NM_016195:exon6:c.A607C:p.R203R,	KIF20B:uc001kgr.1:exon6:c.A607C:p.R203R,KIF20B:uc001kgs.1:exon6:c.A607C:p.R203R,	UNKNOWN	Het;A>C	234;23|14	Hom;A>C	1582;1|56
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91470953	91470953	A	G	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs10881632	0.200479	0.1927	0.2156	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;A>G	73;4|4	Hom;A>G	734;0|25
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91473887	91473887	G	A	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs11185853	0.357228	0.3119	0.2921	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;G>A	1294;57|64	Hom;G>A	3232;0|124
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91474699	91474699	C	CT	indel	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs397738862	0.438698	0.3189	0.3611	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;+T	185;3|9	Hom;+T	365;0|14
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91484780	91484780	G	A	snp	synonymous SNV	G1866A	E622E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs8181361	0.357029	0.3076	0.2886	1	0	0	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	synonymous SNV	synonymous SNV	unknown	KIF20B:NM_001284259:exon15:c.G1866A:p.E622E,KIF20B:NM_016195:exon15:c.G1866A:p.E622E,	KIF20B:uc001kgr.1:exon15:c.G1866A:p.E622E,KIF20B:uc001kgs.1:exon15:c.G1866A:p.E622E,	UNKNOWN	Het;G>A	1314;97|66	Hom;G>A	4101;0|150
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91485950	91485950	A	G	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs10881639	0.357029	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;A>G	66;5|3	Hom;A>G	204;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91497631	91497631	T	A	snp	nonsynonymous SNV	T3033A	D1011E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs1062465	0.353834	0.3101	0.2879	0.31	4	13	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	nonsynonymous SNV	nonsynonymous SNV	unknown	KIF20B:NM_001284259:exon20:c.T3033A:p.D1011E,KIF20B:NM_016195:exon20:c.T2913A:p.D971E,	KIF20B:uc001kgr.1:exon20:c.T2913A:p.D971E,KIF20B:uc001kgs.1:exon20:c.T3033A:p.D1011E,KIF20B:uc001kgt.1:exon7:c.T666A:p.D222E,	UNKNOWN	Het;T>A	1011;83|55	Hom;T>A	3676;0|133
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91497902	91497902	C	CTAAAAG	indel	nonframeshift substitution	3184_3184delinsCTAAAAG	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs144593231	0.356629	0.3027	0.2866	1	0	0	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	nonframeshift substitution	nonframeshift substitution	unknown	KIF20B:NM_001284259:exon20:c.3304_3304delinsCTAAAAG,KIF20B:NM_016195:exon20:c.3184_3184delinsCTAAAAG,	KIF20B:uc001kgr.1:exon20:c.3184_3184delinsCTAAAAG,KIF20B:uc001kgs.1:exon20:c.3304_3304delinsCTAAAAG,KIF20B:uc001kgt.1:exon7:c.937_937delinsCTAAAAG,	UNKNOWN	Het;+TAAAAG	1371;45|35	Hom;+TAAAAG	2616;0|59
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91498254	91498254	A	G	snp	nonsynonymous SNV	A3656G	N1219S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs1886997	0.357029	0.3056	0.2883	0.15	2	13	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	nonsynonymous SNV	nonsynonymous SNV	unknown	KIF20B:NM_001284259:exon20:c.A3656G:p.N1219S,KIF20B:NM_016195:exon20:c.A3536G:p.N1179S,	KIF20B:uc001kgr.1:exon20:c.A3536G:p.N1179S,KIF20B:uc001kgs.1:exon20:c.A3656G:p.N1219S,KIF20B:uc001kgt.1:exon7:c.A1289G:p.N430S,	UNKNOWN	Het;A>G	969;24|37	Hom;A>G	1787;0|61
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91498318	91498318	A	G	snp	synonymous SNV	A3600G	K1200K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs1886998	0.357029	0.3019	0.2901	1	0	0	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	synonymous SNV	synonymous SNV	unknown	KIF20B:NM_001284259:exon20:c.A3720G:p.K1240K,KIF20B:NM_016195:exon20:c.A3600G:p.K1200K,	KIF20B:uc001kgr.1:exon20:c.A3600G:p.K1200K,KIF20B:uc001kgs.1:exon20:c.A3720G:p.K1240K,KIF20B:uc001kgt.1:exon7:c.A1353G:p.K451K,	UNKNOWN	Het;A>G	525;18|22	Hom;A>G	944;0|36
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91503660	91503660	A	G	snp	synonymous SNV	A3891G	K1297K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs1126480	0.353834	0.3096	0.2876	1	0	0	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	synonymous SNV	synonymous SNV	unknown	KIF20B:NM_001284259:exon22:c.A4011G:p.K1337K,KIF20B:NM_016195:exon22:c.A3891G:p.K1297K,	KIF20B:uc001kgr.1:exon22:c.A3891G:p.K1297K,KIF20B:uc001kgs.1:exon22:c.A4011G:p.K1337K,KIF20B:uc001kgt.1:exon9:c.A1644G:p.K548K,	UNKNOWN	Het;A>G	729;49|38	Hom;A>G	1846;0|69
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91503750	91503750	G	T	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs10881648	0.357029	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;G>T	299;29|16	Hom;G>T	879;0|32
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91505886	91505886	G	A	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs56664691	0.357029	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;G>A	201;6|7	Hom;G>A	470;0|13
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91514244	91514244	C	T	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs187805621	0.00179712	0.0047	0.0065	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;C>T	168;21|10	Hom;C>T	978;0|36
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91522310	91522310	G	A	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs3740037	0.356629	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;G>A	174;2|8	Hom;G>A	114;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91522707	91522707	C	G	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs12767644	0.199681	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;C>G	297;10|10	Hom;C>G	542;0|14
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91528384	91528384	C	T	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs7912464	0.352835	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;C>T	178;8|7	Hom;C>T	349;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91528441	91528441	T	C	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs3824609	0.352835	0	0	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;T>C	317;11|11	Hom;T>C	646;0|21
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91532432	91532432	A	T	snp	intronic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs3758389	0.462859	0.3411	0.3802	1	0	0	intronic	intronic	intronic	KIF20B	KIF20B	ENSG00000138182	Na	Na	Na	Na	Na	Na	Het;A>T	301;29|17	Hom;A>T	1193;2|44
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91561105	91561105	G	T	snp	intergenic	 	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs7924196	0.402955	0	0	1	0	0	intergenic	intergenic	intergenic	KIF20B(dist=26405),LINC00865(dist=28145)	KIF20B(dist=26405),LINC00865(dist=28145)	ENSG00000138182(dist=26405),ENSG00000232229(dist=28162)	Na	Na	Na	Na	Na	Na	Het;G>T	254;13|13	Hom;G>T	698;0|24
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	91589483	91589483	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00865																		rs17127888	0.0621006	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00865	LINC00865	ENSG00000232229	Na	Na	Na	Na	Na	Na	Het;A>G	1142;32|44	Hom;A>G	2425;0|82
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	92678743	92678743	A	AT	indel	intronic	 	 	 	 	ANKRD1	Ankrd1	ENSG00000148677	ankyrin repeat domain 1	chr10:92671853-92681033	The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]	ovarian cancer; Creatinine; Glomerular Filtration Rate; Cardiomyopathy, Hypertrophic|; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|DCM - Dilated cardiomyopathy|Heart Failure|Hypertrophic Cardiomyopathy; Hypercholesterolemia|LDLC levels; Cardiomyopathy, Dilated|	Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype.	PPARA activates gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0035690;cellular response to drug;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042692;muscle cell differentiation;IBA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045214;sarcomere organization;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050714;positive regulation of protein secretion;IMP|GO:0055008;cardiac muscle tissue morphogenesis;IMP|GO:0071222;cellular response to lipopolysaccharide;IDA|GO:0071260;cellular response to mechanical stimulus;IDA|GO:0071347;cellular response to interleukin-1;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000279;negative regulation of DNA biosynthetic process;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IBA|GO:0031674;I band;ISS	GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IDA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0031432;titin binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0070412;R-SMAD binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD1	https://www.uniprot.org/uniprot/Q15327	https://hpo.jax.org/app/browse/search?q=ANKRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609599	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD1&submit=Quick%0D%9145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD1	rs60700562	0	0	0.0063	1	0	0	intronic	intronic	intronic	ANKRD1	ANKRD1	ENSG00000148677	Na	Na	Na	Na	Na	Na	Het;+T	370;3|10	Hom;+T	723;0|27
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	92678744	92678744	A	ATATAT	indel	intronic	 	 	 	 	ANKRD1	Ankrd1	ENSG00000148677	ankyrin repeat domain 1	chr10:92671853-92681033	The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]	ovarian cancer; Creatinine; Glomerular Filtration Rate; Cardiomyopathy, Hypertrophic|; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|DCM - Dilated cardiomyopathy|Heart Failure|Hypertrophic Cardiomyopathy; Hypercholesterolemia|LDLC levels; Cardiomyopathy, Dilated|	Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype.	PPARA activates gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0035690;cellular response to drug;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042692;muscle cell differentiation;IBA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045214;sarcomere organization;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050714;positive regulation of protein secretion;IMP|GO:0055008;cardiac muscle tissue morphogenesis;IMP|GO:0071222;cellular response to lipopolysaccharide;IDA|GO:0071260;cellular response to mechanical stimulus;IDA|GO:0071347;cellular response to interleukin-1;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000279;negative regulation of DNA biosynthetic process;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IBA|GO:0031674;I band;ISS	GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IDA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0031432;titin binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0070412;R-SMAD binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD1	https://www.uniprot.org/uniprot/Q15327	https://hpo.jax.org/app/browse/search?q=ANKRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609599	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD1&submit=Quick%0D%9145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD1	Na	0	0	0	1	0	0	intronic	intronic	intronic	ANKRD1	ANKRD1	ENSG00000148677	Na	Na	Na	Na	Na	Na	Het;+TATAT	283;3|10	Hom;+TATAT	885;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	92678748	92678748	A	T	snp	intronic	 	 	 	 	ANKRD1	Ankrd1	ENSG00000148677	ankyrin repeat domain 1	chr10:92671853-92681033	The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]	ovarian cancer; Creatinine; Glomerular Filtration Rate; Cardiomyopathy, Hypertrophic|; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|DCM - Dilated cardiomyopathy|Heart Failure|Hypertrophic Cardiomyopathy; Hypercholesterolemia|LDLC levels; Cardiomyopathy, Dilated|	Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype.	PPARA activates gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0035690;cellular response to drug;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042692;muscle cell differentiation;IBA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045214;sarcomere organization;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050714;positive regulation of protein secretion;IMP|GO:0055008;cardiac muscle tissue morphogenesis;IMP|GO:0071222;cellular response to lipopolysaccharide;IDA|GO:0071260;cellular response to mechanical stimulus;IDA|GO:0071347;cellular response to interleukin-1;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000279;negative regulation of DNA biosynthetic process;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IBA|GO:0031674;I band;ISS	GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IDA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0031432;titin binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0070412;R-SMAD binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD1	https://www.uniprot.org/uniprot/Q15327	https://hpo.jax.org/app/browse/search?q=ANKRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609599	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD1&submit=Quick%0D%9145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD1	rs10881854	0.784545	0	0.0561	1	0	0	intronic	intronic	intronic	ANKRD1	ANKRD1	ENSG00000148677	Na	Na	Na	Na	Na	Na	Het;A>T	370;3|10	Hom;A>T	1173;0|27
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	92707186	92707186	G	T	snp	intergenic	 	 	 	 	RNU6-740P																		rs12776792	0.46905	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD1(dist=26154),LINC00502(dist=98379)	U6(dist=24594),LINC00502(dist=98379)	ENSG00000201604(dist=24594),ENSG00000225519(dist=47191)	Na	Na	Na	Na	Na	Na	Het;G>T	536;17|25	Hom;G>T	1327;0|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	92745403	92745403	T	G	snp	intergenic	 	 	 	 	RNU6-740P																		rs55863711	0.0607029	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD1(dist=64371),LINC00502(dist=60162)	U6(dist=62811),LINC00502(dist=60162)	ENSG00000201604(dist=62811),ENSG00000225519(dist=8974)	Na	Na	Na	Na	Na	Na	Het;T>G	64;6|3	Hom;T>G	137;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	92750495	92750495	T	C	snp	intergenic	 	 	 	 	RNU6-740P																		rs61859610	0.0806709	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD1(dist=69463),LINC00502(dist=55070)	U6(dist=67903),LINC00502(dist=55070)	ENSG00000201604(dist=67903),ENSG00000225519(dist=3882)	Na	Na	Na	Na	Na	Na	Het;T>C	100;5|5	Hom;T>C	239;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	92793040	92793040	A	T	snp	intergenic	 	 	 	 	AL365434.1																		rs12415456	0.507188	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD1(dist=112008),LINC00502(dist=12525)	U6(dist=110448),LINC00502(dist=12525)	ENSG00000225519(dist=26893),ENSG00000224851(dist=13883)	Na	Na	Na	Na	Na	Na	Het;A>T	348;23|17	Hom;A>T	943;0|34
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93000211	93000211	G	A	snp	intronic	 	 	 	 	PCGF5	Pcgf5	ENSG00000180628	polycomb group ring finger 5	chr10:92979908-93044088		Alzheimer's disease 	Bone marrow cells from mice homozygous for a conditional allele exhibit normal hematopoietic and progenitor cell function.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0031519;PcG protein complex;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCGF5			https://www.ncbi.nlm.nih.gov/omim/?term=617407	http://www.informatics.jax.org/searchtool/Search.do?query=PCGF5&submit=Quick%0D%14506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCGF5	rs10881907	0.523163	0.5110	0.4146	1	0	0	intronic	intronic	intronic	PCGF5	PCGF5	ENSG00000180628	Na	Na	Na	Na	Na	Na	Het;G>A	547;24|27	Hom;G>A	2235;0|78
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93371238	93371238	G	T	snp	upstream	 	 	 	 	LOC100188947																		rs55954710	0.141573	0	0	1	0	0	upstream	upstream	intergenic	HECTD2-AS1	LOC100188947	ENSG00000223876(dist=66383),ENSG00000119938(dist=16961)	Na	Na	Na	Na	Na	Na	Het;G>T	547;15|25	Hom;G>T	661;0|25
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93442601	93442613	CAATAACAACAAT	C	indel	intergenic	 	 	 	 	GAPDHP28																		rs6144024	0	0	0	1	0	0	intergenic	intergenic	intergenic	PPP1R3C(dist=49743),TNKS2-AS1(dist=99983)	PPP1R3C(dist=49743),TNKS2(dist=115538)	ENSG00000213449(dist=15062),ENSG00000228759(dist=83043)	Na	Na	Na	Na	Na	Na	Het;-AATAACAACAAT	104;9|4	Hom;-AATAACAACAAT	324;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93525987	93525987	C	G	snp	ncRNA_exonic	 	 	 	 	FAF2P1																		rs10881966	0.457268	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PPP1R3C(dist=133129),TNKS2-AS1(dist=16609)	PPP1R3C(dist=133129),TNKS2(dist=32164)	ENSG00000228759	Na	Na	Na	Na	Na	Na	Het;C>G	72;6|4	Hom;C>G	102;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93604562	93604562	C	CAT	indel	intronic	 	 	 	 	TNKS2	Tnks2	ENSG00000107854	tankyrase 2	chr10:93558069-93625033		Endometrial Neoplasms; Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; Alzheimer's disease 	Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight.	Regulation of PTEN stability and activity	GO:0000209;protein polyubiquitination;IDA|GO:0006471;protein ADP-ribosylation;IDA|GO:0016055;Wnt signaling pathway;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IC|GO:0035264;multicellular organism growth;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0070198;protein localization to chromosome, telomeric region;IMP|GO:0070213;protein auto-ADP-ribosylation;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1904355;positive regulation of telomere capping;IDA|GO:1904357;negative regulation of telomere maintenance via telomere lengthening;IMP	GO:0000139;Golgi membrane;IEA|GO:0000242;pericentriolar material;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNKS2	https://www.uniprot.org/uniprot/Q9H2K2		https://www.ncbi.nlm.nih.gov/omim/?term=607128	http://www.informatics.jax.org/searchtool/Search.do?query=TNKS2&submit=Quick%0D%3647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNKS2	rs3043645	0.402756	0	0	1	0	0	intronic	intronic	intronic	TNKS2	TNKS2	ENSG00000107854	Na	Na	Na	Na	Na	Na	Het;+AT	197;5|7	Hom;+AT	277;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93604600	93604600	A	T	snp	intronic	 	 	 	 	TNKS2	Tnks2	ENSG00000107854	tankyrase 2	chr10:93558069-93625033		Endometrial Neoplasms; Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; Alzheimer's disease 	Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight.	Regulation of PTEN stability and activity	GO:0000209;protein polyubiquitination;IDA|GO:0006471;protein ADP-ribosylation;IDA|GO:0016055;Wnt signaling pathway;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IC|GO:0035264;multicellular organism growth;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0070198;protein localization to chromosome, telomeric region;IMP|GO:0070213;protein auto-ADP-ribosylation;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1904355;positive regulation of telomere capping;IDA|GO:1904357;negative regulation of telomere maintenance via telomere lengthening;IMP	GO:0000139;Golgi membrane;IEA|GO:0000242;pericentriolar material;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNKS2	https://www.uniprot.org/uniprot/Q9H2K2		https://www.ncbi.nlm.nih.gov/omim/?term=607128	http://www.informatics.jax.org/searchtool/Search.do?query=TNKS2&submit=Quick%0D%3647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNKS2	rs2297960	0.402955	0	0	1	0	0	intronic	intronic	intronic	TNKS2	TNKS2	ENSG00000107854	Na	Na	Na	Na	Na	Na	Het;A>T	288;11|11	Hom;A>T	581;0|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93608142	93608142	G	A	snp	synonymous SNV	G2361A	A787A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TNKS2	Tnks2	ENSG00000107854	tankyrase 2	chr10:93558069-93625033		Endometrial Neoplasms; Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; Alzheimer's disease 	Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight.	Regulation of PTEN stability and activity	GO:0000209;protein polyubiquitination;IDA|GO:0006471;protein ADP-ribosylation;IDA|GO:0016055;Wnt signaling pathway;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IC|GO:0035264;multicellular organism growth;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0070198;protein localization to chromosome, telomeric region;IMP|GO:0070213;protein auto-ADP-ribosylation;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1904355;positive regulation of telomere capping;IDA|GO:1904357;negative regulation of telomere maintenance via telomere lengthening;IMP	GO:0000139;Golgi membrane;IEA|GO:0000242;pericentriolar material;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNKS2	https://www.uniprot.org/uniprot/Q9H2K2		https://www.ncbi.nlm.nih.gov/omim/?term=607128	http://www.informatics.jax.org/searchtool/Search.do?query=TNKS2&submit=Quick%0D%3647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNKS2	rs3758499	0.402356	0.2850	0.3721	1	0	0	exonic	exonic	exonic	TNKS2	TNKS2	ENSG00000107854	synonymous SNV	synonymous SNV	unknown	TNKS2:NM_025235:exon19:c.G2361A:p.A787A,	TNKS2:uc001khp.3:exon19:c.G2361A:p.A787A,	UNKNOWN	Het;G>A	462;18|19	Hom;G>A	1354;0|47
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93754163	93754163	G	A	snp	intronic	 	 	 	 	BTAF1	Btaf1	ENSG00000095564	B-TFIID TATA-box binding protein associated factor 1	chr10:93683526-93790082	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]	Tobacco Use Disorder; Schizophrenia; Alzheimer's disease 	Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development.		GO:0035562;negative regulation of chromatin binding;IMP|GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BTAF1	https://www.uniprot.org/uniprot/O14981		https://www.ncbi.nlm.nih.gov/omim/?term=605191	http://www.informatics.jax.org/searchtool/Search.do?query=BTAF1&submit=Quick%0D%2250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTAF1	rs10882014	0.200479	0	0	1	0	0	intronic	intronic	intronic	BTAF1	BTAF1	ENSG00000095564	Na	Na	Na	Na	Na	Na	Het;G>A	197;2|7	Hom;G>A	187;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93768096	93768096	G	C	snp	intronic	 	 	 	 	BTAF1	Btaf1	ENSG00000095564	B-TFIID TATA-box binding protein associated factor 1	chr10:93683526-93790082	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]	Tobacco Use Disorder; Schizophrenia; Alzheimer's disease 	Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development.		GO:0035562;negative regulation of chromatin binding;IMP|GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BTAF1	https://www.uniprot.org/uniprot/O14981		https://www.ncbi.nlm.nih.gov/omim/?term=605191	http://www.informatics.jax.org/searchtool/Search.do?query=BTAF1&submit=Quick%0D%2250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTAF1	rs11186794	0.200479	0	0	1	0	0	intronic	intronic	intronic	BTAF1	BTAF1	ENSG00000095564	Na	Na	Na	Na	Na	Na	Het;G>C	260;14|14	Hom;G>C	870;1|36
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93773792	93773792	G	A	snp	intronic	 	 	 	 	BTAF1	Btaf1	ENSG00000095564	B-TFIID TATA-box binding protein associated factor 1	chr10:93683526-93790082	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]	Tobacco Use Disorder; Schizophrenia; Alzheimer's disease 	Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development.		GO:0035562;negative regulation of chromatin binding;IMP|GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BTAF1	https://www.uniprot.org/uniprot/O14981		https://www.ncbi.nlm.nih.gov/omim/?term=605191	http://www.informatics.jax.org/searchtool/Search.do?query=BTAF1&submit=Quick%0D%2250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTAF1	rs11186798	0.0179712	0.0463	0.0471	1	0	0	intronic	intronic	intronic	BTAF1	BTAF1	ENSG00000095564	Na	Na	Na	Na	Na	Na	Het;G>A	927;51|46	Hom;G>A	2396;2|92
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93778520	93778521	CT	C	indel	intronic	 	 	 	 	BTAF1	Btaf1	ENSG00000095564	B-TFIID TATA-box binding protein associated factor 1	chr10:93683526-93790082	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]	Tobacco Use Disorder; Schizophrenia; Alzheimer's disease 	Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development.		GO:0035562;negative regulation of chromatin binding;IMP|GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BTAF1	https://www.uniprot.org/uniprot/O14981		https://www.ncbi.nlm.nih.gov/omim/?term=605191	http://www.informatics.jax.org/searchtool/Search.do?query=BTAF1&submit=Quick%0D%2250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTAF1	rs140447601	0.19988	0.2916	0.3098	1	0	0	intronic	intronic	intronic	BTAF1	BTAF1	ENSG00000095564	Na	Na	Na	Na	Na	Na	Het;-T	569;49|34	Hom;-T	1302;2|54
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93786557	93786557	A	C	snp	intronic	 	 	 	 	BTAF1	Btaf1	ENSG00000095564	B-TFIID TATA-box binding protein associated factor 1	chr10:93683526-93790082	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]	Tobacco Use Disorder; Schizophrenia; Alzheimer's disease 	Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development.		GO:0035562;negative regulation of chromatin binding;IMP|GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BTAF1	https://www.uniprot.org/uniprot/O14981		https://www.ncbi.nlm.nih.gov/omim/?term=605191	http://www.informatics.jax.org/searchtool/Search.do?query=BTAF1&submit=Quick%0D%2250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTAF1	rs61876492	0.201078	0.2921	0.3116	1	0	0	intronic	intronic	intronic	BTAF1	BTAF1	ENSG00000095564	Na	Na	Na	Na	Na	Na	Het;A>C	443;24|18	Hom;A>C	1401;1|47
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93870699	93870699	C	A	snp	intronic	 	 	 	 	CPEB3	Cpeb3	ENSG00000107864	cytoplasmic polyadenylation element binding protein 3	chr10:93806449-94050844		null; Survival; Alzheimer's disease ; Tobacco Use Disorder; Calcium; Body Mass Index	Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0007616;long-term memory;ISS|GO:0017148;negative regulation of translation;IDA|GO:0045727;positive regulation of translation;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060213;positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:0060998;regulation of dendritic spine development;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061158;3'-UTR-mediated mRNA destabilization;IDA|GO:0071230;cellular response to amino acid stimulus;IDA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA|GO:1900248;negative regulation of cytoplasmic translational elongation;ISS|GO:1900365;positive regulation of mRNA polyadenylation;ISS|GO:2000766;negative regulation of cytoplasmic translation;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030014;CCR4-NOT complex;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0045202;synapse;IBA|GO:0045211;postsynaptic membrane;IEA|GO:0097440;apical dendrite;ISS|GO:1990124;messenger ribonucleoprotein complex;IBA	GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0035613;RNA stem-loop binding;ISS|GO:0035925;mRNA 3'-UTR AU-rich region binding;ISS|GO:0043022;ribosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CPEB3	https://www.uniprot.org/uniprot/Q8NE35		https://www.ncbi.nlm.nih.gov/omim/?term=610606	http://www.informatics.jax.org/searchtool/Search.do?query=CPEB3&submit=Quick%0D%3651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB3	rs1557178	0.352236	0	0	1	0	0	intronic	intronic	intronic	CPEB3	CPEB3	ENSG00000107864	Na	Na	Na	Na	Na	Na	Het;C>A	64;4|3	Hom;C>A	252;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93871066	93871066	G	A	snp	intronic	 	 	 	 	CPEB3	Cpeb3	ENSG00000107864	cytoplasmic polyadenylation element binding protein 3	chr10:93806449-94050844		null; Survival; Alzheimer's disease ; Tobacco Use Disorder; Calcium; Body Mass Index	Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0007616;long-term memory;ISS|GO:0017148;negative regulation of translation;IDA|GO:0045727;positive regulation of translation;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060213;positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:0060998;regulation of dendritic spine development;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061158;3'-UTR-mediated mRNA destabilization;IDA|GO:0071230;cellular response to amino acid stimulus;IDA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA|GO:1900248;negative regulation of cytoplasmic translational elongation;ISS|GO:1900365;positive regulation of mRNA polyadenylation;ISS|GO:2000766;negative regulation of cytoplasmic translation;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030014;CCR4-NOT complex;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0045202;synapse;IBA|GO:0045211;postsynaptic membrane;IEA|GO:0097440;apical dendrite;ISS|GO:1990124;messenger ribonucleoprotein complex;IBA	GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0035613;RNA stem-loop binding;ISS|GO:0035925;mRNA 3'-UTR AU-rich region binding;ISS|GO:0043022;ribosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CPEB3	https://www.uniprot.org/uniprot/Q8NE35		https://www.ncbi.nlm.nih.gov/omim/?term=610606	http://www.informatics.jax.org/searchtool/Search.do?query=CPEB3&submit=Quick%0D%3651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB3	rs701846	0.654353	0	0	1	0	0	intronic	intronic	intronic	CPEB3	CPEB3	ENSG00000107864	Na	Na	Na	Na	Na	Na	Het;G>A	212;8|9	Hom;G>A	218;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93874962	93874962	G	A	snp	intronic	 	 	 	 	CPEB3	Cpeb3	ENSG00000107864	cytoplasmic polyadenylation element binding protein 3	chr10:93806449-94050844		null; Survival; Alzheimer's disease ; Tobacco Use Disorder; Calcium; Body Mass Index	Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0007616;long-term memory;ISS|GO:0017148;negative regulation of translation;IDA|GO:0045727;positive regulation of translation;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060213;positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:0060998;regulation of dendritic spine development;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061158;3'-UTR-mediated mRNA destabilization;IDA|GO:0071230;cellular response to amino acid stimulus;IDA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA|GO:1900248;negative regulation of cytoplasmic translational elongation;ISS|GO:1900365;positive regulation of mRNA polyadenylation;ISS|GO:2000766;negative regulation of cytoplasmic translation;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030014;CCR4-NOT complex;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0045202;synapse;IBA|GO:0045211;postsynaptic membrane;IEA|GO:0097440;apical dendrite;ISS|GO:1990124;messenger ribonucleoprotein complex;IBA	GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0035613;RNA stem-loop binding;ISS|GO:0035925;mRNA 3'-UTR AU-rich region binding;ISS|GO:0043022;ribosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CPEB3	https://www.uniprot.org/uniprot/Q8NE35		https://www.ncbi.nlm.nih.gov/omim/?term=610606	http://www.informatics.jax.org/searchtool/Search.do?query=CPEB3&submit=Quick%0D%3651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB3	rs11186830	0.359625	0	0	1	0	0	intronic	intronic	intronic	CPEB3	CPEB3	ENSG00000107864	Na	Na	Na	Na	Na	Na	Het;G>A	990;39|50	Hom;G>A	1524;0|65
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	93999850	93999850	A	G	snp	synonymous SNV	T258C	P86P	hydrophobic,neutral	hydrophobic,neutral	CPEB3	Cpeb3	ENSG00000107864	cytoplasmic polyadenylation element binding protein 3	chr10:93806449-94050844		null; Survival; Alzheimer's disease ; Tobacco Use Disorder; Calcium; Body Mass Index	Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0007616;long-term memory;ISS|GO:0017148;negative regulation of translation;IDA|GO:0045727;positive regulation of translation;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060213;positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:0060998;regulation of dendritic spine development;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061158;3'-UTR-mediated mRNA destabilization;IDA|GO:0071230;cellular response to amino acid stimulus;IDA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA|GO:1900248;negative regulation of cytoplasmic translational elongation;ISS|GO:1900365;positive regulation of mRNA polyadenylation;ISS|GO:2000766;negative regulation of cytoplasmic translation;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030014;CCR4-NOT complex;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0045202;synapse;IBA|GO:0045211;postsynaptic membrane;IEA|GO:0097440;apical dendrite;ISS|GO:1990124;messenger ribonucleoprotein complex;IBA	GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0035613;RNA stem-loop binding;ISS|GO:0035925;mRNA 3'-UTR AU-rich region binding;ISS|GO:0043022;ribosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CPEB3	https://www.uniprot.org/uniprot/Q8NE35		https://www.ncbi.nlm.nih.gov/omim/?term=610606	http://www.informatics.jax.org/searchtool/Search.do?query=CPEB3&submit=Quick%0D%3651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB3	rs3824734	0.658546	0.7087	0.6266	1	0	0	exonic	exonic	exonic	CPEB3	CPEB3	ENSG00000107864	synonymous SNV	synonymous SNV	unknown	CPEB3:NM_014912:exon2:c.T258C:p.P86P,CPEB3:NM_001178137:exon2:c.T258C:p.P86P,	CPEB3:uc001khu.2:exon1:c.T258C:p.P86P,CPEB3:uc001khv.2:exon2:c.T258C:p.P86P,CPEB3:uc001khw.2:exon2:c.T258C:p.P86P,CPEB3:uc010qnn.2:exon2:c.T258C:p.P86P,	UNKNOWN	Het;A>G	1571;82|70	Hom;A>G	4374;2|152
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94211304	94211304	C	T	snp	downstream	 	 	 	 	IDE	Ide	ENSG00000119912	insulin degrading enzyme	chr10:94211441-94333833	This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]	diabetes, type 2 | diabetes, type 1; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; BMI; Bone Mineral Density; cognitive trait; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Alzheimer's disease; Alzheimer's disease; Parkinson's disease; Alzheimer's disease cognitive function; metabolic syndrome; Diabetes Mellitus, Type 2|Hyperglycemia; diabetes, type 1 ; diabetes, type 2; glucose; HbA1c; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; insulin; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; insulin; glucose; obesity; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 2; Type 2 diabetes; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease ; Diabetes Mellitus|; Down syndrome; Aging/ Telomere Length; Diabetes Mellitus, Type 2; Polycystic Ovary Syndrome; cognitive function executive function memory disturbance	Mice homozygous for a null allele show beta amyloid accumulations in the brain, hyperinsulinemia, and glucose intolerance. Mice homozygous for a different null allele show decreased testis weight, small seminiferous tubules, abnormal sperm morphology, and decreased sperm viability.	Ub-specific processing proteases	GO:0006508;proteolysis;IDA|GO:0008152;metabolic process;IEA|GO:0008286;insulin receptor signaling pathway;NAS|GO:0008340;determination of adult lifespan;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010992;ubiquitin homeostasis;IDA|GO:0016032;viral process;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0042447;hormone catabolic process;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050435;beta-amyloid metabolic process;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:1901142;insulin metabolic process;IDA|GO:1901143;insulin catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031597;cytosolic proteasome complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0001540;beta-amyloid binding;IEA|GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0017046;peptide hormone binding;IEA|GO:0031626;beta-endorphin binding;IEA|GO:0042277;peptide binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;IPI|GO:0043559;insulin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDE	https://www.uniprot.org/uniprot/P14735		https://www.ncbi.nlm.nih.gov/omim/?term=146680	http://www.informatics.jax.org/searchtool/Search.do?query=IDE&submit=Quick%0D%5133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDE	rs2251101	0.846246	0	0	1	0	0	downstream	downstream	downstream	IDE	IDE	ENSG00000119912	Na	Na	Na	Na	Na	Na	Het;C>T	93;2|4	Hom;C>T	124;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94274809	94274809	A	G	snp	intronic	 	 	 	 	IDE	Ide	ENSG00000119912	insulin degrading enzyme	chr10:94211441-94333833	This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]	diabetes, type 2 | diabetes, type 1; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; BMI; Bone Mineral Density; cognitive trait; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Alzheimer's disease; Alzheimer's disease; Parkinson's disease; Alzheimer's disease cognitive function; metabolic syndrome; Diabetes Mellitus, Type 2|Hyperglycemia; diabetes, type 1 ; diabetes, type 2; glucose; HbA1c; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; insulin; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; insulin; glucose; obesity; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 2; Type 2 diabetes; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease ; Diabetes Mellitus|; Down syndrome; Aging/ Telomere Length; Diabetes Mellitus, Type 2; Polycystic Ovary Syndrome; cognitive function executive function memory disturbance	Mice homozygous for a null allele show beta amyloid accumulations in the brain, hyperinsulinemia, and glucose intolerance. Mice homozygous for a different null allele show decreased testis weight, small seminiferous tubules, abnormal sperm morphology, and decreased sperm viability.	Ub-specific processing proteases	GO:0006508;proteolysis;IDA|GO:0008152;metabolic process;IEA|GO:0008286;insulin receptor signaling pathway;NAS|GO:0008340;determination of adult lifespan;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010992;ubiquitin homeostasis;IDA|GO:0016032;viral process;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0042447;hormone catabolic process;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050435;beta-amyloid metabolic process;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:1901142;insulin metabolic process;IDA|GO:1901143;insulin catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031597;cytosolic proteasome complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0001540;beta-amyloid binding;IEA|GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0017046;peptide hormone binding;IEA|GO:0031626;beta-endorphin binding;IEA|GO:0042277;peptide binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;IPI|GO:0043559;insulin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDE	https://www.uniprot.org/uniprot/P14735		https://www.ncbi.nlm.nih.gov/omim/?term=146680	http://www.informatics.jax.org/searchtool/Search.do?query=IDE&submit=Quick%0D%5133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDE	rs17875327	0.0359425	0.0726	0.0808	1	0	0	intronic	intronic	intronic	IDE	IDE	ENSG00000119912	Na	Na	Na	Na	Na	Na	Het;A>G	1166;26|49	Hom;A>G	2107;2|75
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94294291	94294291	A	G	snp	intronic	 	 	 	 	IDE	Ide	ENSG00000119912	insulin degrading enzyme	chr10:94211441-94333833	This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]	diabetes, type 2 | diabetes, type 1; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; BMI; Bone Mineral Density; cognitive trait; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Alzheimer's disease; Alzheimer's disease; Parkinson's disease; Alzheimer's disease cognitive function; metabolic syndrome; Diabetes Mellitus, Type 2|Hyperglycemia; diabetes, type 1 ; diabetes, type 2; glucose; HbA1c; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; insulin; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; insulin; glucose; obesity; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 2; Type 2 diabetes; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease ; Diabetes Mellitus|; Down syndrome; Aging/ Telomere Length; Diabetes Mellitus, Type 2; Polycystic Ovary Syndrome; cognitive function executive function memory disturbance	Mice homozygous for a null allele show beta amyloid accumulations in the brain, hyperinsulinemia, and glucose intolerance. Mice homozygous for a different null allele show decreased testis weight, small seminiferous tubules, abnormal sperm morphology, and decreased sperm viability.	Ub-specific processing proteases	GO:0006508;proteolysis;IDA|GO:0008152;metabolic process;IEA|GO:0008286;insulin receptor signaling pathway;NAS|GO:0008340;determination of adult lifespan;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010992;ubiquitin homeostasis;IDA|GO:0016032;viral process;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0042447;hormone catabolic process;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050435;beta-amyloid metabolic process;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:1901142;insulin metabolic process;IDA|GO:1901143;insulin catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031597;cytosolic proteasome complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0001540;beta-amyloid binding;IEA|GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0017046;peptide hormone binding;IEA|GO:0031626;beta-endorphin binding;IEA|GO:0042277;peptide binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;IPI|GO:0043559;insulin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDE	https://www.uniprot.org/uniprot/P14735		https://www.ncbi.nlm.nih.gov/omim/?term=146680	http://www.informatics.jax.org/searchtool/Search.do?query=IDE&submit=Quick%0D%5133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDE	rs4646955	0.13139	0.2067	0.2033	1	0	0	intronic	intronic	intronic	IDE	IDE	ENSG00000119912	Na	Na	Na	Na	Na	Na	Het;A>G	421;14|15	Hom;A>G	1028;0|30
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94333955	94333955	A	G	snp	upstream	 	 	 	 	IDE	Ide	ENSG00000119912	insulin degrading enzyme	chr10:94211441-94333833	This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]	diabetes, type 2 | diabetes, type 1; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; BMI; Bone Mineral Density; cognitive trait; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Alzheimer's disease; Alzheimer's disease; Parkinson's disease; Alzheimer's disease cognitive function; metabolic syndrome; Diabetes Mellitus, Type 2|Hyperglycemia; diabetes, type 1 ; diabetes, type 2; glucose; HbA1c; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; insulin; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; insulin; glucose; obesity; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 2; Type 2 diabetes; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease ; Diabetes Mellitus|; Down syndrome; Aging/ Telomere Length; Diabetes Mellitus, Type 2; Polycystic Ovary Syndrome; cognitive function executive function memory disturbance	Mice homozygous for a null allele show beta amyloid accumulations in the brain, hyperinsulinemia, and glucose intolerance. Mice homozygous for a different null allele show decreased testis weight, small seminiferous tubules, abnormal sperm morphology, and decreased sperm viability.	Ub-specific processing proteases	GO:0006508;proteolysis;IDA|GO:0008152;metabolic process;IEA|GO:0008286;insulin receptor signaling pathway;NAS|GO:0008340;determination of adult lifespan;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010992;ubiquitin homeostasis;IDA|GO:0016032;viral process;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0042447;hormone catabolic process;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050435;beta-amyloid metabolic process;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:1901142;insulin metabolic process;IDA|GO:1901143;insulin catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031597;cytosolic proteasome complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0001540;beta-amyloid binding;IEA|GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0017046;peptide hormone binding;IEA|GO:0031626;beta-endorphin binding;IEA|GO:0042277;peptide binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;IPI|GO:0043559;insulin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDE	https://www.uniprot.org/uniprot/P14735		https://www.ncbi.nlm.nih.gov/omim/?term=146680	http://www.informatics.jax.org/searchtool/Search.do?query=IDE&submit=Quick%0D%5133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDE	rs4646953	0.116414	0	0	1	0	0	upstream	upstream	upstream	IDE	IDE	ENSG00000119912	Na	Na	Na	Na	Na	Na	Het;A>G	70;1|3	Hom;A>G	261;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94594416	94594416	A	AT	indel	upstream	 	 	 	 	EXOC6	Exoc6	ENSG00000138190	exocyst complex component 6	chr10:94590935-94819250	The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin.	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA	GO:0000145;exocyst;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC6	https://www.uniprot.org/uniprot/Q8TAG9		https://www.ncbi.nlm.nih.gov/omim/?term=609672	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6&submit=Quick%0D%7695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6	rs11408607	0.428714	0	0	1	0	0	upstream	intronic	intronic	EXOC6	EXOC6	ENSG00000138190	Na	Na	Na	Na	Na	Na	Het;+T	1104;38|54	Hom;+T	1574;11|74
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94594565	94594565	G	A	snp	nonsynonymous SNV	G70A	V24I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EXOC6	Exoc6	ENSG00000138190	exocyst complex component 6	chr10:94590935-94819250	The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin.	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA	GO:0000145;exocyst;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC6	https://www.uniprot.org/uniprot/Q8TAG9		https://www.ncbi.nlm.nih.gov/omim/?term=609672	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6&submit=Quick%0D%7695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6	rs2490741	0.571286	0.7142	0.6602	0.08	1	12	exonic	exonic	exonic	EXOC6	EXOC6	ENSG00000138190	nonsynonymous SNV	nonsynonymous SNV	unknown	EXOC6:NM_001013848:exon1:c.G70A:p.V24I,	EXOC6:uc010qnr.2:exon2:c.G133A:p.V45I,EXOC6:uc001kie.3:exon1:c.G70A:p.V24I,	UNKNOWN	Het;G>A	1471;89|72	Hom;G>A	4124;0|160
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94695555	94695555	G	A	snp	intronic	 	 	 	 	EXOC6	Exoc6	ENSG00000138190	exocyst complex component 6	chr10:94590935-94819250	The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin.	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA	GO:0000145;exocyst;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC6	https://www.uniprot.org/uniprot/Q8TAG9		https://www.ncbi.nlm.nih.gov/omim/?term=609672	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6&submit=Quick%0D%7695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6	rs1326330	0.249002	0.2955	0.2557	1	0	0	intronic	intronic	intronic	EXOC6	EXOC6	ENSG00000138190	Na	Na	Na	Na	Na	Na	Het;G>A	750;34|36	Hom;G>A	1981;0|75
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94816859	94816859	G	C	snp	intronic	 	 	 	 	EXOC6	Exoc6	ENSG00000138190	exocyst complex component 6	chr10:94590935-94819250	The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin.	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA	GO:0000145;exocyst;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC6	https://www.uniprot.org/uniprot/Q8TAG9		https://www.ncbi.nlm.nih.gov/omim/?term=609672	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6&submit=Quick%0D%7695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6	rs12783274	0.0305511	0	0	1	0	0	intronic	intronic	intronic	EXOC6	EXOC6	ENSG00000138190	Na	Na	Na	Na	Na	Na	Het;G>C	104;10|5	Hom;G>C	491;0|17
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94822686	94822686	C	T	snp	synonymous SNV	C639T	T213T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CYP26C1	Cyp26c1	ENSG00000187553	cytochrome P450 family 26 subfamily C member 1	chr10:94821021-94828454	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]	neural tube defects; schizophrenia; Alzheimer's disease 	Mice homozygous for a knock-out allele are viable and exhibit normal CNS development with no apparent anatomical defects.	RA biosynthesis pathway	GO:0006766;vitamin metabolic process;TAS|GO:0007417;central nervous system development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0014032;neural crest cell development;IEA|GO:0016125;sterol metabolic process;IBA|GO:0034653;retinoic acid catabolic process;IDA|GO:0048284;organelle fusion;IEA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;NAS|GO:0055114;oxidation-reduction process;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001972;retinoic acid binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008401;retinoic acid 4-hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP26C1		https://hpo.jax.org/app/browse/search?q=CYP26C1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608428	http://www.informatics.jax.org/searchtool/Search.do?query=CYP26C1&submit=Quick%0D%15842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP26C1	rs55843714	0.282348	0.4401	0.4687	1	0	0	exonic	exonic	exonic	CYP26C1	CYP26C1	ENSG00000187553	synonymous SNV	synonymous SNV	unknown	CYP26C1:NM_183374:exon3:c.C639T:p.T213T,	CYP26C1:uc010qns.2:exon3:c.C639T:p.T213T,	UNKNOWN	Het;C>T	1224;90|63	Hom;C>T	3520;0|128
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94967039	94967039	C	T	snp	ncRNA_exonic	 	 	 	 	XRCC6P1																		rs7070948	0.387979	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CYP26A1(dist=129398),MYOF(dist=99147)	CYP26A1(dist=129398),MYOF(dist=99147)	ENSG00000237417	Na	Na	Na	Na	Na	Na	Het;C>T	461;11|24	Hom;C>T	1176;0|44
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94967076	94967076	A	G	snp	ncRNA_exonic	 	 	 	 	XRCC6P1																		rs7070947	0.388578	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CYP26A1(dist=129435),MYOF(dist=99110)	CYP26A1(dist=129435),MYOF(dist=99110)	ENSG00000237417	Na	Na	Na	Na	Na	Na	Het;A>G	478;11|24	Hom;A>G	1399;0|52
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	94967805	94967807	TTC	T	indel	ncRNA_exonic	 	 	 	 	XRCC6P1																		rs112265691	0.388578	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CYP26A1(dist=130164),MYOF(dist=98379)	CYP26A1(dist=130164),MYOF(dist=98379)	ENSG00000237417	Na	Na	Na	Na	Na	Na	Het;-TC	170;9|6	Hom;-TC	413;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95070037	95070037	A	G	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs2761286	0.86222	0	0	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;A>G	251;11|8	Hom;A>G	477;0|14
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95070080	95070080	C	T	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs2797581	0.857628	0	0	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;C>T	156;5|6	Hom;C>T	270;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95070526	95070526	G	A	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs787661	0.857827	0	0	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;G>A	104;9|7	Hom;G>A	447;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95072906	95072906	T	C	snp	synonymous SNV	A5760G	R1920R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs787666	0.84345	0.8362	0.8485	1	0	0	exonic	exonic	exonic	MYOF	MYOF	ENSG00000138119	synonymous SNV	synonymous SNV	unknown	MYOF:NM_013451:exon51:c.A5760G:p.R1920R,MYOF:NM_133337:exon50:c.A5721G:p.R1907R,	MYOF:uc001kin.3:exon51:c.A5760G:p.R1920R,MYOF:uc001kio.3:exon50:c.A5721G:p.R1907R,	UNKNOWN	Het;T>C	1646;56|74	Hom;T>C	2669;0|100
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95095600	95095600	G	C	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs787689	0.669529	0	0	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;G>C	293;9|10	Hom;G>C	374;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95095667	95095667	A	G	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs7097740	0.430112	0.2054	0.3411	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;A>G	1054;40|48	Hom;A>G	1983;0|75
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95109530	95109530	C	T	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs775509411	0	0	5.868e-05	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;C>T	443;11|19	Hom;C>T	570;1|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95109737	95109737	G	A	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs2298158	0.462859	0.2419	0.3530	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;G>A	892;33|41	Hom;G>A	1801;0|65
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95152624	95152624	T	C	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs788084	0.317891	0.3847	0.4323	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;T>C	325;18|16	Hom;T>C	914;0|33
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95162084	95162084	A	G	snp	nonsynonymous SNV	T895C	W299R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs753960311	0	0	2.485e-05	1.00	13	13	exonic	exonic	exonic	MYOF	MYOF	ENSG00000138119	nonsynonymous SNV	nonsynonymous SNV	unknown	MYOF:NM_013451:exon11:c.T895C:p.W299R,MYOF:NM_133337:exon11:c.T895C:p.W299R,	MYOF:uc001kin.3:exon11:c.T895C:p.W299R,MYOF:uc001kio.3:exon11:c.T895C:p.W299R,MYOF:uc009xuf.2:exon12:c.T841C:p.W281R,MYOF:uc001kip.4:exon11:c.T895C:p.W299R,	UNKNOWN	Het;A>G	351;21|18	Hom;A>G	1321;0|48
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95162496	95162496	A	T	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs701875	0.499401	0	0	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;A>T	57;4|4	Hom;A>T	218;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95216623	95216623	A	G	snp	intronic	 	 	 	 	MYOF	Myof	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF	rs701882	0.566693	0.6271	0.6422	1	0	0	intronic	intronic	intronic	MYOF	MYOF	ENSG00000138119	Na	Na	Na	Na	Na	Na	Het;A>G	488;41|27	Hom;A>G	1567;0|62
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95372734	95372734	G	A	snp	synonymous SNV	G252A	L84L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs1131978	0.164337	0.1945	0.1654	1	0	0	exonic	exonic	exonic	PDE6C	PDE6C	ENSG00000095464	synonymous SNV	synonymous SNV	unknown	PDE6C:NM_006204:exon1:c.G252A:p.L84L,	PDE6C:uc001kiu.4:exon1:c.G252A:p.L84L,	UNKNOWN	Het;G>A	1031;42|47	Hom;G>A	2404;0|89
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95372764	95372764	C	T	snp	synonymous SNV	C282T	D94D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs12781149	0.0429313	0.0721	0.0779	1	0	0	exonic	exonic	exonic	PDE6C	PDE6C	ENSG00000095464	synonymous SNV	synonymous SNV	unknown	PDE6C:NM_006204:exon1:c.C282T:p.D94D,	PDE6C:uc001kiu.4:exon1:c.C282T:p.D94D,	UNKNOWN	Het;C>T	1012;40|45	Hom;C>T	2224;0|82
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95381773	95381773	T	A	snp	nonsynonymous SNV	T808A	S270T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs701865	0.414337	0.3913	0.3729	0.15	2	13	exonic	exonic	exonic	PDE6C	PDE6C	ENSG00000095464	nonsynonymous SNV	nonsynonymous SNV	unknown	PDE6C:NM_006204:exon4:c.T808A:p.S270T,	PDE6C:uc001kiu.4:exon4:c.T808A:p.S270T,	UNKNOWN	Het;T>A	1482;57|71	Hom;T>A	2463;0|93
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95386740	95386740	C	A	snp	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs2785138	0.213259	0	0	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;C>A	144;6|6	Hom;C>A	143;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95389041	95389041	G	A	snp	synonymous SNV	G1098A	A366A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs714550	0.395767	0.3663	0.3496	1	0	0	exonic	exonic	exonic	PDE6C	PDE6C	ENSG00000095464	synonymous SNV	synonymous SNV	unknown	PDE6C:NM_006204:exon8:c.G1098A:p.A366A,	PDE6C:uc001kiu.4:exon8:c.G1098A:p.A366A,	UNKNOWN	Het;G>A	386;51|24	Hom;G>A	1823;0|71
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95389083	95389083	A	G	snp	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs714549	0.396166	0.3684	0.3516	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;A>G	405;54|26	Hom;A>G	1726;2|68
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95389124	95389124	G	A	snp	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs714551	0.395767	0.3708	0	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;G>A	222;35|15	Hom;G>A	1029;0|38
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95389249	95389249	G	A	snp	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs1409335	0.395567	0	0	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;G>A	95;1|3	Hom;G>A	141;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95389251	95389251	T	A	snp	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs1409334	0.395567	0	0	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;T>A	95;1|3	Hom;T>A	141;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95395364	95395364	C	G	snp	synonymous SNV	C1380G	T460T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs3737228	0.235224	0.2291	0.2643	1	0	0	exonic	exonic	exonic	PDE6C	PDE6C	ENSG00000095464	synonymous SNV	synonymous SNV	unknown	PDE6C:NM_006204:exon10:c.C1380G:p.T460T,	PDE6C:uc001kiu.4:exon10:c.C1380G:p.T460T,	UNKNOWN	Het;C>G	1028;57|50	Hom;C>G	2374;2|89
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95405665	95405667	CTA	C	indel	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs3085185	0.405751	0.4153	0	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;-TA	471;20|14	Hom;-TA	1673;0|38
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95405814	95405814	C	A	snp	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs1409332	0.413339	0.4234	0.4604	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;C>A	1025;41|47	Hom;C>A	3430;0|129
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95422245	95422245	A	G	snp	intronic	 	 	 	 	PDE6C	Pde6c	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C	rs10882298	0.348842	0	0	1	0	0	intronic	intronic	intronic	PDE6C	PDE6C	ENSG00000095464	Na	Na	Na	Na	Na	Na	Het;A>G	171;6|7	Hom;A>G	180;0|9
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95428388	95428388	A	G	snp	UTR3	*1195T>C	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs12573791	0.361222	0	0	1	0	0	UTR3	UTR3	UTR3	FRA10AC1(NM_145246:c.*1195T>C)	FRA10AC1(uc001kiz.2:c.*1195T>C)	ENSG00000148690(ENST00000359204:c.*1195T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	69;5|3	Hom;A>G	455;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95429162	95429162	C	T	snp	UTR3	*421G>A	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs4919398	0.864018	0	0	1	0	0	UTR3	UTR3	UTR3	FRA10AC1(NM_145246:c.*421G>A)	FRA10AC1(uc001kiz.2:c.*421G>A)	ENSG00000148690(ENST00000359204:c.*421G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	90;1|5	Hom;C>T	330;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95443688	95443688	C	G	snp	intronic	 	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs8181435	0.360623	0	0	1	0	0	intronic	intronic	intronic	FRA10AC1	FRA10AC1	ENSG00000148690	Na	Na	Na	Na	Na	Na	Het;C>G	188;2|6	Hom;C>G	395;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95444931	95444931	T	G	snp	intronic	 	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs767701	0.360623	0	0	1	0	0	intronic	intronic	intronic	FRA10AC1	FRA10AC1	ENSG00000148690	Na	Na	Na	Na	Na	Na	Het;T>G	230;3|9	Hom;T>G	603;0|20
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95454681	95454681	G	C	snp	nonsynonymous SNV	C233G	T78R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs2275438	0.360623	0.3898	0.4728	0.15	2	13	exonic	exonic	exonic	FRA10AC1	FRA10AC1	ENSG00000148690	nonsynonymous SNV	nonsynonymous SNV	unknown	FRA10AC1:NM_145246:exon5:c.C233G:p.T78R,	FRA10AC1:uc001kjb.1:exon4:c.C233G:p.T78R,FRA10AC1:uc009xuh.1:exon5:c.C236G:p.T79R,FRA10AC1:uc001kiz.2:exon5:c.C233G:p.T78R,	UNKNOWN	Het;G>C	808;41|41	Hom;G>C	1570;0|59
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95454768	95454769	TA	T	indel	intronic	 	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs3215997	0.359425	0	0	1	0	0	intronic	intronic	intronic	FRA10AC1	FRA10AC1	ENSG00000148690	Na	Na	Na	Na	Na	Na	Het;-A	184;6|10	Hom;-A	267;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95458141	95458141	A	G	snp	synonymous SNV	T90C	D30D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs11187597	0.360623	0.3898	0.4729	1	0	0	exonic	exonic	exonic	FRA10AC1	FRA10AC1	ENSG00000148690	synonymous SNV	synonymous SNV	unknown	FRA10AC1:NM_145246:exon3:c.T90C:p.D30D,	FRA10AC1:uc001kjb.1:exon2:c.T90C:p.D30D,FRA10AC1:uc009xuh.1:exon3:c.T93C:p.D31D,FRA10AC1:uc001kiz.2:exon3:c.T90C:p.D30D,	UNKNOWN	Het;A>G	1116;37|51	Hom;A>G	2162;0|84
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95458231	95458231	A	G	snp	intronic	 	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs72808878	0.024361	0	0	1	0	0	intronic	intronic	intronic	FRA10AC1	FRA10AC1	ENSG00000148690	Na	Na	Na	Na	Na	Na	Het;A>G	233;10|9	Hom;A>G	342;0|11
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95459698	95459698	G	C	snp	intronic	 	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs2275441	0.360623	0	0	1	0	0	intronic	intronic	intronic	FRA10AC1	FRA10AC1	ENSG00000148690	Na	Na	Na	Na	Na	Na	Het;G>C	59;8|3	Hom;G>C	94;0|3
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95459817	95459817	C	T	snp	nonsynonymous SNV	G47A	R16H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs726817	0.622604	0.6635	0.6979	0.15	2	13	exonic	exonic	exonic	FRA10AC1	FRA10AC1	ENSG00000148690	nonsynonymous SNV	nonsynonymous SNV	unknown	FRA10AC1:NM_145246:exon2:c.G47A:p.R16H,	FRA10AC1:uc001kjb.1:exon1:c.G47A:p.R16H,FRA10AC1:uc009xuh.1:exon2:c.G50A:p.R17H,FRA10AC1:uc001kiz.2:exon2:c.G47A:p.R16H,	UNKNOWN	Het;C>T	821;67|43	Hom;C>T	1937;0|78
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95462235	95462235	C	G	snp	UTR5	-2372G>C	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs10748610	0.794529	0	0	1	0	0	UTR5	UTR5	UTR5	FRA10AC1(NM_145246:c.-2372G>C)	FRA10AC1(uc001kiz.2:c.-2372G>C)	ENSG00000148690(ENST00000359204:c.-2372G>C,ENST00000536233:c.-2372G>C,ENST00000371430:c.-2372G>C,ENST00000394100:c.-2372G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	778;41|39	Hom;C>G	2421;0|84
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95462279	95462282	ACCG	A	indel	UTR5	-2416_-2419delinsT	 	 	 	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs139811637	0.426518	0	0	1	0	0	UTR5	UTR5	UTR5	FRA10AC1(NM_145246:c.-2416_-2419delinsT)	FRA10AC1(uc001kiz.2:c.-2416_-2419delinsT)	ENSG00000148690(ENST00000359204:c.-2416_-2419delinsT,ENST00000536233:c.-2416_-2419delinsT,ENST00000371430:c.-2416_-2419delinsT,ENST00000394100:c.-2416_-2419delinsT)	Na	Na	Na	Na	Na	Na	Het;-CCG	769;28|23	Hom;-CCG	2476;0|59
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95604646	95604646	G	A	snp	intergenic	 	 	 	 	LGI1	Lgi1	ENSG00000108231	leucine rich glioma inactivated 1	chr10:95517566-95557916	This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]	null; Epilepsies, Partial|Epilepsy; Blood Pressure; Fibrinogen; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit growth retardation, seizures, and death by the third week of life. Mice heterozygous for this allele exhibit increased suseptibility to pentylenetetrazole-induced seizures.	LGI-ADAM interactions	GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IMP|GO:0008283;cell proliferation;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031175;neuron projection development;IMP|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LGI1	https://www.uniprot.org/uniprot/O95970	https://hpo.jax.org/app/browse/search?q=LGI1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604619	http://www.informatics.jax.org/searchtool/Search.do?query=LGI1&submit=Quick%0D%3687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGI1	rs10882358	0.187101	0	0	1	0	0	intergenic	intergenic	intergenic	LGI1(dist=46730),SLC35G1(dist=49084)	LGI1(dist=46730),SLC35G1(dist=49084)	ENSG00000108231(dist=46730),ENSG00000227995(dist=36404)	Na	Na	Na	Na	Na	Na	Het;G>A	289;9|14	Hom;G>A	944;0|37
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95718037	95718037	G	A	snp	ncRNA_exonic	 	 	 	 	PIPSL																		rs12768993	0.16853	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	PIPSL	PIPSL(uc009xuj.2:c.*528C>T)	ENSG00000180764	Na	Na	Na	Na	Na	Na	Het;G>A	1975;105|92	Hom;G>A	4429;1|166
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95718166	95718167	TA	T	indel	ncRNA_exonic	 	 	 	 	PIPSL																		rs34978710	0.166534	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	PIPSL	PIPSL(uc009xuj.2:c.*399_*398delinsA)	ENSG00000180764	Na	Na	Na	Na	Na	Na	Het;-A	1796;79|64	Hom;-A	6150;1|176
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95718474	95718474	A	G	snp	ncRNA_exonic	 	 	 	 	PIPSL																		rs829225	0.770367	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	PIPSL	PIPSL(uc009xuj.2:c.*91T>C)	ENSG00000180764	Na	Na	Na	Na	Na	Na	Het;A>G	1132;59|53	Hom;A>G	3430;0|112
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95718600	95718600	T	C	snp	nonsynonymous SNV	A2554G	S852G	polar,hydrophilic,neutral	aliphatic,neutral	PIPSL																		rs11815169	0.25619	0	0.2498	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	PIPSL	PIPSL	ENSG00000180764	Na	nonsynonymous SNV	Na	Na	PIPSL:uc009xuj.2:exon1:c.A2554G:p.S852G,	Na	Het;T>C	1593;68|76	Hom;T>C	3606;0|136
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95720490	95720490	C	T	snp	nonsynonymous SNV	G664A	E222K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	PIPSL																		rs12570608	0.156949	0	0.2141	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	PIPSL	PIPSL	ENSG00000180764	Na	nonsynonymous SNV	Na	Na	PIPSL:uc009xuj.2:exon1:c.G664A:p.E222K,	Na	Het;C>T	1136;79|53	Hom;C>T	2980;1|109
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95720501	95720501	T	C	snp	nonsynonymous SNV	A653G	Q218R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	PIPSL																		rs12571819	0.169329	0	0.2183	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	PIPSL	PIPSL	ENSG00000180764	Na	nonsynonymous SNV	Na	Na	PIPSL:uc009xuj.2:exon1:c.A653G:p.Q218R,	Na	Het;T>C	1213;79|57	Hom;T>C	3200;1|111
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95721367	95721367	C	G	snp	ncRNA_exonic	 	 	 	 	PIPSL																		rs1977861	0.790535	0	0	1	0	0	ncRNA_exonic	UTR5	upstream	PIPSL	PIPSL(uc009xuj.2:c.-214G>C)	ENSG00000180764	Na	Na	Na	Na	Na	Na	Het;C>G	1783;68|73	Hom;C>G	3794;0|125
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95753811	95753825	GCCCGGGCTCTACCT	G	indel	UTR5	-36993_-36979delinsG	 	 	 	PLCE1	Plce1	ENSG00000138193	phospholipase C epsilon 1	chr10:95753746-96092580	This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]	Stroke; Hypertension; HIV; Narcolepsy; Alzheimer's disease; Alcoholism; Esophageal Neoplasms; Stomach Neoplasms; Dengue Hemorrhagic Fever; Pulmonary Disease, Chronic Obstructive; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Glomerulosclerosis, Focal Segmental; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Death, Sudden, Cardiac; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Alzheimer's disease ; Blood Pressure; Religion and Psychology	Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.	Synthesis of IP3 and IP4 in the cytosol	GO:0000187;activation of MAPK activity;IDA|GO:0001558;regulation of cell growth;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IC|GO:0006651;diacylglycerol biosynthetic process;TAS|GO:0006940;regulation of smooth muscle contraction;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007165;signal transduction;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;NAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;NAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0007507;heart development;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0008283;cell proliferation;NAS|GO:0016042;lipid catabolic process;IEA|GO:0019722;calcium-mediated signaling;NAS|GO:0032835;glomerulus development;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0045859;regulation of protein kinase activity;IDA|GO:0046578;regulation of Ras protein signal transduction;IDA|GO:0048016;inositol phosphate-mediated signaling;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017016;Ras GTPase binding;TAS|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCE1	https://www.uniprot.org/uniprot/Q9P212	https://hpo.jax.org/app/browse/search?q=PLCE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608414	http://www.informatics.jax.org/searchtool/Search.do?query=PLCE1&submit=Quick%0D%7696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCE1	rs200055104	0.211062	0	0	1	0	0	UTR5	UTR5	UTR5	PLCE1(NM_016341:c.-36993_-36979delinsG,NM_001288989:c.-36993_-36979delinsG)	PLCE1(uc001kjk.3:c.-36993_-36979delinsG)	ENSG00000138193(ENST00000260766:c.-36993_-36979delinsG)	Na	Na	Na	Na	Na	Na	Het;-CCCGGGCTCTACCT	392;25|12	Hom;-CCCGGGCTCTACCT	1135;0|26
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95931343	95931343	A	C	snp	intronic	 	 	 	 	PLCE1	Plce1	ENSG00000138193	phospholipase C epsilon 1	chr10:95753746-96092580	This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]	Stroke; Hypertension; HIV; Narcolepsy; Alzheimer's disease; Alcoholism; Esophageal Neoplasms; Stomach Neoplasms; Dengue Hemorrhagic Fever; Pulmonary Disease, Chronic Obstructive; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Glomerulosclerosis, Focal Segmental; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Death, Sudden, Cardiac; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Alzheimer's disease ; Blood Pressure; Religion and Psychology	Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.	Synthesis of IP3 and IP4 in the cytosol	GO:0000187;activation of MAPK activity;IDA|GO:0001558;regulation of cell growth;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IC|GO:0006651;diacylglycerol biosynthetic process;TAS|GO:0006940;regulation of smooth muscle contraction;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007165;signal transduction;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;NAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;NAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0007507;heart development;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0008283;cell proliferation;NAS|GO:0016042;lipid catabolic process;IEA|GO:0019722;calcium-mediated signaling;NAS|GO:0032835;glomerulus development;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0045859;regulation of protein kinase activity;IDA|GO:0046578;regulation of Ras protein signal transduction;IDA|GO:0048016;inositol phosphate-mediated signaling;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017016;Ras GTPase binding;TAS|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCE1	https://www.uniprot.org/uniprot/Q9P212	https://hpo.jax.org/app/browse/search?q=PLCE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608414	http://www.informatics.jax.org/searchtool/Search.do?query=PLCE1&submit=Quick%0D%7696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCE1	rs72814608	0.013778	0	0	1	0	0	intronic	intronic	intronic	PLCE1	PLCE1	ENSG00000138193	Na	Na	Na	Na	Na	Na	Het;A>C	292;9|10	Hom;A>C	544;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	95987313	95987313	C	T	snp	intronic	 	 	 	 	PLCE1	Plce1	ENSG00000138193	phospholipase C epsilon 1	chr10:95753746-96092580	This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]	Stroke; Hypertension; HIV; Narcolepsy; Alzheimer's disease; Alcoholism; Esophageal Neoplasms; Stomach Neoplasms; Dengue Hemorrhagic Fever; Pulmonary Disease, Chronic Obstructive; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Glomerulosclerosis, Focal Segmental; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Death, Sudden, Cardiac; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Alzheimer's disease ; Blood Pressure; Religion and Psychology	Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.	Synthesis of IP3 and IP4 in the cytosol	GO:0000187;activation of MAPK activity;IDA|GO:0001558;regulation of cell growth;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IC|GO:0006651;diacylglycerol biosynthetic process;TAS|GO:0006940;regulation of smooth muscle contraction;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007165;signal transduction;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;NAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;NAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0007507;heart development;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0008283;cell proliferation;NAS|GO:0016042;lipid catabolic process;IEA|GO:0019722;calcium-mediated signaling;NAS|GO:0032835;glomerulus development;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0045859;regulation of protein kinase activity;IDA|GO:0046578;regulation of Ras protein signal transduction;IDA|GO:0048016;inositol phosphate-mediated signaling;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017016;Ras GTPase binding;TAS|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCE1	https://www.uniprot.org/uniprot/Q9P212	https://hpo.jax.org/app/browse/search?q=PLCE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608414	http://www.informatics.jax.org/searchtool/Search.do?query=PLCE1&submit=Quick%0D%7696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCE1	rs11187825	0.722644	0	0	1	0	0	intronic	intronic	intronic	PLCE1	PLCE1	ENSG00000138193	Na	Na	Na	Na	Na	Na	Het;C>T	216;5|9	Hom;C>T	758;0|22
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96104665	96104665	T	G	snp	nonsynonymous SNV	A1415C	E472A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	NOC3L	Noc3l	ENSG00000173145	NOC3 like DNA replication regulator	chr10:96075004-96122716		Alzheimer's disease ; Interleukin-6; Stroke	Mice homozygous for a knock-out allele exhibit complete embryonic lethality, fail to form blastocele and arrest at the morula stage.		GO:0045444;fat cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IDA|GO:0016607;nuclear speck;IEA	GO:0003682;chromatin binding;IBA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NOC3L			https://www.ncbi.nlm.nih.gov/omim/?term=610769	http://www.informatics.jax.org/searchtool/Search.do?query=NOC3L&submit=Quick%0D%13297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOC3L	rs3758526	0.206869	0.1367	0.1610	0.69	9	13	exonic	exonic	exonic	NOC3L	NOC3L	ENSG00000173145	nonsynonymous SNV	nonsynonymous SNV	unknown	NOC3L:NM_022451:exon12:c.A1415C:p.E472A,	NOC3L:uc001kjq.1:exon12:c.A1415C:p.E472A,	UNKNOWN	Het;T>G	334;40|19	Hom;T>G	1899;2|72
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96114835	96114835	G	A	snp	nonsynonymous SNV	C581T	P194L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NOC3L	Noc3l	ENSG00000173145	NOC3 like DNA replication regulator	chr10:96075004-96122716		Alzheimer's disease ; Interleukin-6; Stroke	Mice homozygous for a knock-out allele exhibit complete embryonic lethality, fail to form blastocele and arrest at the morula stage.		GO:0045444;fat cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IDA|GO:0016607;nuclear speck;IEA	GO:0003682;chromatin binding;IBA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NOC3L			https://www.ncbi.nlm.nih.gov/omim/?term=610769	http://www.informatics.jax.org/searchtool/Search.do?query=NOC3L&submit=Quick%0D%13297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOC3L	rs12572897	0.20607	0.1353	0.1601	0.46	6	13	exonic	exonic	exonic	NOC3L	NOC3L	ENSG00000173145	nonsynonymous SNV	nonsynonymous SNV	unknown	NOC3L:NM_022451:exon6:c.C581T:p.P194L,	NOC3L:uc001kjq.1:exon6:c.C581T:p.P194L,	UNKNOWN	Het;G>A	806;52|41	Hom;G>A	2321;0|84
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96201820	96201820	C	T	snp	intronic	 	 	 	 	TBC1D12	Tbc1d12	ENSG00000108239	TBC1 domain family member 12	chr10:96162261-96295687			 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA|GO:2000785;regulation of autophagosome assembly;IBA	GO:0005776;autophagosome;IBA|GO:0055037;recycling endosome;IBA	GO:0005096;GTPase activator activity;IEA|GO:0017137;Rab GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D12	https://www.uniprot.org/uniprot/O60347			http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D12&submit=Quick%0D%3688ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D12	rs12246393	0.139177	0.1696	0.1424	1	0	0	intronic	intronic	intronic	TBC1D12	TBC1D12	ENSG00000108239	Na	Na	Na	Na	Na	Na	Het;C>T	456;33|23	Hom;C>T	967;0|38
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96292988	96292988	T	A	snp	UTR3	*135T>A	 	 	 	TBC1D12	Tbc1d12	ENSG00000108239	TBC1 domain family member 12	chr10:96162261-96295687			 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA|GO:2000785;regulation of autophagosome assembly;IBA	GO:0005776;autophagosome;IBA|GO:0055037;recycling endosome;IBA	GO:0005096;GTPase activator activity;IEA|GO:0017137;Rab GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D12	https://www.uniprot.org/uniprot/O60347			http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D12&submit=Quick%0D%3688ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D12	rs12260063	0.139577	0	0	1	0	0	UTR3	UTR3	UTR3	TBC1D12(NM_015188:c.*135T>A)	TBC1D12(uc001kjr.2:c.*135T>A)	ENSG00000108239(ENST00000225235:c.*135T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	188;7|7	Hom;T>A	151;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96521657	96521657	C	T	snp	upstream	 	 	 	 	CYP2C19		ENSG00000165841	cytochrome P450 family 2 subfamily C member 19	chr10:96447911-96613017	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]	phenobarbital clearance; Coronary Disease; Coronary Artery Disease; Coronary Artery Disease|Diabetes Complications; anticoagulant complications; Esophagitis, Peptic|Gastroesophageal Reflux; Multiple Myeloma; breast cancer ; BMI- Edema rosiglitazone or pioglitazone; lung cancer; esophageal cancer; stomach cancer; bladder cancer; phenytoin levels; glyburide pharmacokinetics; epilepsy; drug-related genes ; breast cancer; Lupus Nephritis|Nephritis SLE; Cardiovascular Diseases; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; platelet aggregation; Acute Coronary Syndrome|Recurrence; head and neck cancer; Helicobacter Infections|Liver Cirrhosis|Peptic Ulcer; carvedilol pharmacokinetics; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Multiple Chemical Sensitivity; omeprezole pharmacokinetics; warfarin sensitivity; reflux esophagitis; methadone levels; H. pylori infection; nomal variation; hypercholesterolemia; H. pylori infection; coagulation disorder; metabolism disorders; leukemia, adult acute; Gastroesophageal Reflux|Helicobacter Infections; Endometriosis; Ayurveda Prakriti Type; liver disease; H. pylori infection; drug hypersensitivity; Esophagitis, Peptic|Gastroesophageal Reflux|Recurrence; voriconazole ; Echocardiography; pharmacogenetic studies; Cardiovascular Diseases|Myocardial Infarction|Stroke; Genomic Instability|Mesothelioma|Pleural Neoplasms; Gastroesophageal Reflux|Heartburn; HIV; lung cancer ; clopidogrel; Arthritis, Rheumatoid|Rheumatoid Arthritis; lansoprazole phamacokinetics; fluvoxamine metabolism; omeprazole metabolism; mephobarbital metabolism; Tuberculosis, Pulmonary; cyclophosphamide phamacokinetics; leukemia, myeloid; clomipramine metabolism; Behcet's disease; citalopram pharmacokinetics; schizophrenia; Dyspepsia|Helicobacter Infections; amitriptyline metabolism; Gastroesophageal Reflux|Recurrence; cyclophosphamide pharmacokinetics; lung cancer; Myocardial Infarction|Stroke; gastroesophageal reflux disease; systemic lupus erythematosus; prostate cancer; omeprazole pharmacokinetics; lung cancer; liver cancer; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; Hypercholesterolemia; Coronary Thrombosis|Myocardial ischemia; Anemia, Sickle Cell|Sickle cell anemia; phenytoin; carisoprodol pharmacokinetics; CYP1A2 activity; alprazolam metabolism; Drug-Induced Liver Injury|Hepatitis, Toxic; chlorpropamide pharmacokinetics; proton-pump inhibitor testing, accuracy of; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; quazepam pharmacokinetics; ulcer, gastric; Acenocoumarol; gastric disease; methadone pharmacokinetics methadone treatment outcome; Hypercholesterolemia|LDLC levels; lansoprazole pharmacokinetics; premature ovarian failure; lupus nephritis; diabetes, type 2; liver disease; fluoxetine pharmacokinetics; Helicobacter Infections; Esophagitis, Peptic|Gastroesophageal Reflux|Peptic Esophagitis; Acute Coronary Syndrome|Atrial Fibrillation|Hemorrhage; doxepin metabolism; tacrolimus pharmacokinetics; bladder cancer; Multiple Myeloma|Neoplasm Recurrence, Local; Helicobacter pylori infection; depression; Hematologic Diseases|Neutropenia|Thrombocytopenia; Acute Coronary Syndrome; Epilepsy|; Inflammation; colorectal cancer; depression schizophrenia; Body Weight; gastric ulcer, HIV, malaria; Gastroesophageal Reflux; lansoprazole disposition; personality traits; normal variation; Arthritis, Rheumatoid|Diarrhea|Nausea|Pruritus|Vomiting; essential tremor primidone toxicity; Dyspepsia|; Myocardial Infarction|Recurrence; Lichen Planus, Oral; Hematologic Neoplasms; voriconazole; Stomach Ulcer; acid inhibition; warfarin response; Epilepsies, Partial|Gingival Hyperplasia; amitriptyline; nortriptyline; Endometriosis|; Acute Coronary Syndrome|Cardiovascular Diseases|Thrombosis; Helicobacter Infections|Peptic Ulcer; Angina, Unstable|Myocardial Infarction|Unstable angina; systemic sclerosis; colorectal cancer stomach cancer; patent ductus arteriosus; Duodenal Ulcer|Helicobacter Infections|Stomach Ulcer; Coronary Stenosis|Prosthesis Failure; diabetes, type 2; liver disease, chronic and cirrhosis; voriconazole pharmacokinetics; ovarian toxicity; esophagitis; lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity; pharmacogenetic variation; Drug-Induced Liver Injury; Apoplexy|Cardiovascular Diseases|Coronary Restenosis|Myocardial Infarction|Recurrence|Stroke; End Stage Liver Disease|Liver Failure; visual disorder; hypertension; H. pylori infection; liver cancer; E7070 phamacokinetics; lasoprazole pharmacokinetics; trimipramine pharmakokinetics; Myocardial Infarction; Coronary Thrombosis|Graft Occlusion, Vascular|Myocardial Infarction; Nephritis, Interstitial; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; fatal drug intoxication; indisulam pharmacokinetics; Breast Neoplasms|; intragastric acidity; Neoplasms; obesity; citalopram metabolism; Epilepsy|Neurotoxicity Syndromes; etizolam pharmacokinetics; omeprazole metabolism; CYP2C19 activity; Leukemia|Multiple Myeloma|Myelodysplastic Syndromes|Preleukemia; cancer; HIV infection; carisoprodol metabolism; stomach cancer; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; gliclazide pharmacokinetics; cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;; metabolites of lansoprazole; metabolites of omerprazole; metabolites of sodium rabeprazole; sibutramine; methadone toxicity; etizolam pharmacokinetics; clozapine; seizures; thrombosis, deep vein; systemic sclerosis; Fatty Liver|Liver Neoplasms|Peptic Ulcer; Perioperative genomic profiles ; clopidogrel ; Lupus Nephritis; Coronary Artery Disease|Coronary Thrombosis|Hemorrhage; Myocardial Infarction|Thrombosis; psychiatric disorders; harm avoidance; imipramine plasma concentrations ; thalidomide metabolites; phenobarbital pharmacokinetics phenytoin pharmacokinetics; esophageal Mucosal Injury ; Coronary Disease|Graft Occlusion, Vascular; Epilepsy; Acute Coronary Syndrome|Cardiovascular Diseases; hepatoxicity, drug-induced; Gastritis|Helicobacter Infections; Rhinitis, Allergic, Perennial; rabeprazole pharmacokinetics; null; Myelodysplastic Syndromes; omeprazole; periodontitis; Acenocoumarol maintenance dosage; CYP2C19 activity; CYP2D6 activitiy; omeprazole metabolism; sulfone metabolism; Type 2 diabetes; 4'-hydroxymephenytoin; S/R-mephenytoin; anesthesia effects diazepam pharmacokinetics; ovarian toxicity, cyclophosphamide-related premature menopause, cyclophosphamide-related; citalopram; Leukemia, Lymphocytic, Chronic, B-Cell; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Digestive System Neoplasms; ulcer, gastric; repaglinide pharmacology; coagulation disorder; tacrolimus		Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IMP|GO:0016098;monoterpenoid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0046483;heterocycle metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0008395;steroid hydroxylase activity;IMP|GO:0016491;oxidoreductase activity;IDA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018675;(S)-limonene 6-monooxygenase activity;IEA|GO:0018676;(S)-limonene 7-monooxygenase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0052741;(R)-limonene 6-monooxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C19		https://hpo.jax.org/app/browse/search?q=CYP2C19&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=124020	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C19&submit=Quick%0D%11640ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C19	rs12248560	0.153155	0	0	1	0	0	upstream	intronic	upstream	CYP2C19	CYP2C19	ENSG00000165841	Na	Na	Na	Na	Na	Na	Het;C>T	67;8|5	Hom;C>T	299;0|12
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96612371	96612371	C	T	snp	intronic	 	 	 	 	CYP2C19		ENSG00000165841	cytochrome P450 family 2 subfamily C member 19	chr10:96447911-96613017	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]	phenobarbital clearance; Coronary Disease; Coronary Artery Disease; Coronary Artery Disease|Diabetes Complications; anticoagulant complications; Esophagitis, Peptic|Gastroesophageal Reflux; Multiple Myeloma; breast cancer ; BMI- Edema rosiglitazone or pioglitazone; lung cancer; esophageal cancer; stomach cancer; bladder cancer; phenytoin levels; glyburide pharmacokinetics; epilepsy; drug-related genes ; breast cancer; Lupus Nephritis|Nephritis SLE; Cardiovascular Diseases; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; platelet aggregation; Acute Coronary Syndrome|Recurrence; head and neck cancer; Helicobacter Infections|Liver Cirrhosis|Peptic Ulcer; carvedilol pharmacokinetics; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Multiple Chemical Sensitivity; omeprezole pharmacokinetics; warfarin sensitivity; reflux esophagitis; methadone levels; H. pylori infection; nomal variation; hypercholesterolemia; H. pylori infection; coagulation disorder; metabolism disorders; leukemia, adult acute; Gastroesophageal Reflux|Helicobacter Infections; Endometriosis; Ayurveda Prakriti Type; liver disease; H. pylori infection; drug hypersensitivity; Esophagitis, Peptic|Gastroesophageal Reflux|Recurrence; voriconazole ; Echocardiography; pharmacogenetic studies; Cardiovascular Diseases|Myocardial Infarction|Stroke; Genomic Instability|Mesothelioma|Pleural Neoplasms; Gastroesophageal Reflux|Heartburn; HIV; lung cancer ; clopidogrel; Arthritis, Rheumatoid|Rheumatoid Arthritis; lansoprazole phamacokinetics; fluvoxamine metabolism; omeprazole metabolism; mephobarbital metabolism; Tuberculosis, Pulmonary; cyclophosphamide phamacokinetics; leukemia, myeloid; clomipramine metabolism; Behcet's disease; citalopram pharmacokinetics; schizophrenia; Dyspepsia|Helicobacter Infections; amitriptyline metabolism; Gastroesophageal Reflux|Recurrence; cyclophosphamide pharmacokinetics; lung cancer; Myocardial Infarction|Stroke; gastroesophageal reflux disease; systemic lupus erythematosus; prostate cancer; omeprazole pharmacokinetics; lung cancer; liver cancer; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; Hypercholesterolemia; Coronary Thrombosis|Myocardial ischemia; Anemia, Sickle Cell|Sickle cell anemia; phenytoin; carisoprodol pharmacokinetics; CYP1A2 activity; alprazolam metabolism; Drug-Induced Liver Injury|Hepatitis, Toxic; chlorpropamide pharmacokinetics; proton-pump inhibitor testing, accuracy of; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; quazepam pharmacokinetics; ulcer, gastric; Acenocoumarol; gastric disease; methadone pharmacokinetics methadone treatment outcome; Hypercholesterolemia|LDLC levels; lansoprazole pharmacokinetics; premature ovarian failure; lupus nephritis; diabetes, type 2; liver disease; fluoxetine pharmacokinetics; Helicobacter Infections; Esophagitis, Peptic|Gastroesophageal Reflux|Peptic Esophagitis; Acute Coronary Syndrome|Atrial Fibrillation|Hemorrhage; doxepin metabolism; tacrolimus pharmacokinetics; bladder cancer; Multiple Myeloma|Neoplasm Recurrence, Local; Helicobacter pylori infection; depression; Hematologic Diseases|Neutropenia|Thrombocytopenia; Acute Coronary Syndrome; Epilepsy|; Inflammation; colorectal cancer; depression schizophrenia; Body Weight; gastric ulcer, HIV, malaria; Gastroesophageal Reflux; lansoprazole disposition; personality traits; normal variation; Arthritis, Rheumatoid|Diarrhea|Nausea|Pruritus|Vomiting; essential tremor primidone toxicity; Dyspepsia|; Myocardial Infarction|Recurrence; Lichen Planus, Oral; Hematologic Neoplasms; voriconazole; Stomach Ulcer; acid inhibition; warfarin response; Epilepsies, Partial|Gingival Hyperplasia; amitriptyline; nortriptyline; Endometriosis|; Acute Coronary Syndrome|Cardiovascular Diseases|Thrombosis; Helicobacter Infections|Peptic Ulcer; Angina, Unstable|Myocardial Infarction|Unstable angina; systemic sclerosis; colorectal cancer stomach cancer; patent ductus arteriosus; Duodenal Ulcer|Helicobacter Infections|Stomach Ulcer; Coronary Stenosis|Prosthesis Failure; diabetes, type 2; liver disease, chronic and cirrhosis; voriconazole pharmacokinetics; ovarian toxicity; esophagitis; lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity; pharmacogenetic variation; Drug-Induced Liver Injury; Apoplexy|Cardiovascular Diseases|Coronary Restenosis|Myocardial Infarction|Recurrence|Stroke; End Stage Liver Disease|Liver Failure; visual disorder; hypertension; H. pylori infection; liver cancer; E7070 phamacokinetics; lasoprazole pharmacokinetics; trimipramine pharmakokinetics; Myocardial Infarction; Coronary Thrombosis|Graft Occlusion, Vascular|Myocardial Infarction; Nephritis, Interstitial; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; fatal drug intoxication; indisulam pharmacokinetics; Breast Neoplasms|; intragastric acidity; Neoplasms; obesity; citalopram metabolism; Epilepsy|Neurotoxicity Syndromes; etizolam pharmacokinetics; omeprazole metabolism; CYP2C19 activity; Leukemia|Multiple Myeloma|Myelodysplastic Syndromes|Preleukemia; cancer; HIV infection; carisoprodol metabolism; stomach cancer; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; gliclazide pharmacokinetics; cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;; metabolites of lansoprazole; metabolites of omerprazole; metabolites of sodium rabeprazole; sibutramine; methadone toxicity; etizolam pharmacokinetics; clozapine; seizures; thrombosis, deep vein; systemic sclerosis; Fatty Liver|Liver Neoplasms|Peptic Ulcer; Perioperative genomic profiles ; clopidogrel ; Lupus Nephritis; Coronary Artery Disease|Coronary Thrombosis|Hemorrhage; Myocardial Infarction|Thrombosis; psychiatric disorders; harm avoidance; imipramine plasma concentrations ; thalidomide metabolites; phenobarbital pharmacokinetics phenytoin pharmacokinetics; esophageal Mucosal Injury ; Coronary Disease|Graft Occlusion, Vascular; Epilepsy; Acute Coronary Syndrome|Cardiovascular Diseases; hepatoxicity, drug-induced; Gastritis|Helicobacter Infections; Rhinitis, Allergic, Perennial; rabeprazole pharmacokinetics; null; Myelodysplastic Syndromes; omeprazole; periodontitis; Acenocoumarol maintenance dosage; CYP2C19 activity; CYP2D6 activitiy; omeprazole metabolism; sulfone metabolism; Type 2 diabetes; 4'-hydroxymephenytoin; S/R-mephenytoin; anesthesia effects diazepam pharmacokinetics; ovarian toxicity, cyclophosphamide-related premature menopause, cyclophosphamide-related; citalopram; Leukemia, Lymphocytic, Chronic, B-Cell; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Digestive System Neoplasms; ulcer, gastric; repaglinide pharmacology; coagulation disorder; tacrolimus		Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IMP|GO:0016098;monoterpenoid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0046483;heterocycle metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0008395;steroid hydroxylase activity;IMP|GO:0016491;oxidoreductase activity;IDA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018675;(S)-limonene 6-monooxygenase activity;IEA|GO:0018676;(S)-limonene 7-monooxygenase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0052741;(R)-limonene 6-monooxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C19		https://hpo.jax.org/app/browse/search?q=CYP2C19&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=124020	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C19&submit=Quick%0D%11640ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C19	rs12268020	0.15595	0	0	1	0	0	intronic	intronic	intronic	CYP2C19	CYP2C19	ENSG00000165841	Na	Na	Na	Na	Na	Na	Het;C>T	106;6|5	Hom;C>T	197;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96698690	96698690	T	C	snp	intronic	 	 	 	 	CYP2C9	Cyp2c66	ENSG00000138109	cytochrome P450 family 2 subfamily C member 9	chr10:96698415-96749147	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]	duodenal ulcer, NSAID-ralted gastric ulcer, NSAID-ralted; rosuvastatin pharmacokinetics; Behcet's disease; warfarin response; warfarin maintenance dose; Venous Thromboembolism; Peptic Ulcer|Peptic Ulcer Hemorrhage; hypertension; H. pylori infection; glyburide pharmacokinetics; Arthritis, Rheumatoid|Diarrhea|Nausea|Pruritus|Vomiting; gastrointestingal health; sulphamethoxazole hypersensitivity; Delta9-tetrahydrocannabinol; Budd-Chiari Syndrome; warfarin sensitivity; nomal variation; Adenoma|Colorectal Neoplasms; premature ovarian failure; lupus nephritis; gastric ulceration; Thromboembolism; Coronary Artery Disease|; clozapine; Venous Thrombosis; Body Weight|Thromboembolism; cyclophosphamide pharmacokinetics; null; carvedilol pharmacokinetics; Helicobacter Infections; cardiovascular disease; bladder cancer; Neoplasms; Adenoma|Colorectal Neoplasms|; hypertension; hypercholesterolemia; H. pylori infection; coagulation disorder; chlorpropamide pharmacokinetics; Diabetes Mellitus, Type 2|Hypoglycemia; anticoagulant complications; ibuprofen clearance; Leukemia, Lymphocytic, Chronic, B-Cell; Hypercholesterolemia; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; coagulation disorder; hyperlipidemia; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; methadone pharmacokinetics methadone treatment outcome; epithelial ovarian cancer ; Epilepsy|Malnutrition; warfarin therapy, response to; Arthritis, Rheumatoid; pharmacogenetic studies; Hemorrhage|Thromboembolism|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; Drug-Induced Liver Injury|Hepatitis, Toxic; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; coagulation warfarin sensitivity; Gastrointestinal Diseases|; Colonic Neoplasms|Microsatellite Instability; anticoagulant complications; bleeding events, warfarin therapy-related; overanticoagulation, warfarin therapy-related; piroxicam pharmacokinetics; epilepsy; anticoagulant complications; phenytoin; platelet aggregation; warfarin therapy; acenocoumarol, sensitivity; Lichen Planus, Oral; Pulmonary Embolism|Venous Thrombosis; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; leukemia, childhood acute; hypertension; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Alzheimer's disease ; Type 2 diabetes; thioridazine plasma levels; heart rate; risperidone metabolism; Kidney Failure, Chronic|Proteinuria; cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;; acenocoumarol pharmacokinetics; glimepiride pharmacokinetics; Polycystic Ovary Syndrome; Heart Failure; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; seizures; thrombosis, deep vein; systemic sclerosis; depressive disorder, major; Atrophy|Peptic Ulcer; clopidogrel ; glibenclamide pharmacokinetics lornoxicam pharmacokinetics; Cardiovascular Diseases|Myocardial Infarction|Stroke; Coronary Artery Disease; fluoxetine pharmacokinetics; seizures; thrombosis, deep vein; Tuberculosis, Pulmonary; Epilepsy; torsemide pharmacokinetics; methadone levels; diabetes, type 2; liver disease; lung cancer; liver cancer; irbesartan phamacokinetics; lipids; indisulam pharmacokinetics; acenocoumarol anticoagulation; acenocoumarol maintenance dosage; lung cancer; Epilepsy|Neurotoxicity Syndromes; Muscular Diseases; oral anticoagulants; Essential Tremor; blood pressure; Warfarin response; diclofenac pharmacokinetics and pharmacodynamics; tolbutamide pharmacokinetics; anticoagulant response of acenocoumarol; Multiple Chemical Sensitivity; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; Atrial Fibrillation|Venous Thrombosis; Epilepsy|; Hypercholesterolemia|LDLC levels; Epilepsies, Partial|Gingival Hyperplasia; losartan oxidation; glucose; insulin secretion; bleeding complications; lymphoma, Non-Hodgkin's; Thrombosis; pharmacogenetic diversity ; enantiomers of ibuprofen; Multiple Myeloma; colorectal cancer; drug hypersensitivity; E7070 phamacokinetics; obesity; Lymphoma, Non-Hodgkin; tenoxicam bioequivalence; Acute Coronary Syndrome|Recurrence; Hematologic Diseases|Neutropenia|Thrombocytopenia; Myocardial Infarction; Blood Coagulation Disorders, Inherited; lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity; Drug-Induced Liver Injury; Acute Coronary Syndrome|; doxepin metabolism; asthma; Hypertension; clopidogrel; Cardiovascular Diseases; esophageal adenocarcinoma; hematology indices; Hemorrhage; acenocoumarol and phenprocoumon; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; trimipramine pharmakokinetics; patent ductus arteriosus; phenytoin levels; nonsteroidal anti-inflammatory response; flubiprofen metabolism; acenocoumarol response; cutaneous adverse drug reaction; tamoxifen, metabolism; diabetes, type 2; heart disease; epilepsy; prostate cancer; Warfarin; carbamazepine hypersensitivity; Hemorrhage|Thromboembolism; breast cancer ; Perioperative genomic profiles ; Renal Insufficiency|Thrombophilia; gliclazide pharmacokinetics; Cocarcinogenesis|Neoplasms; myocardial infarct; coumarin sensitivity; phenprocoumon; Hypertension, Renal; Rhinitis, Allergic, Perennial; Body Weight; lornoxicam pharmacokinetics; anticoagulant complications; bleeding complications; Hyperlipidemias; Echocardiography; Hodgkin Disease; pharmacogenetic variation; haloperidol, plasma; over anticoagulation; gastrointestinal bleeding; phenprocoumon requirements; anticoagulant complications; Cardiovascular Diseases|Hemorrhage; Myocardial Infarction|Stroke; breast cancer; Antiphospholipid Syndrome|Hemorrhage|Recurrence|Thrombosis; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; cyclophosphamide phamacokinetics; CYP2C9 activity; Hemorrhage|Thrombosis; Gastrointestinal Hemorrhage|; Heart Diseases; Dehydroepiandrosterone Sulfate; endoxifen; BMI- Edema rosiglitazone or pioglitazone; Glomerulonephritis, IGA; phenobarbital clearance; diclofenac metabolism; phenytoin metabolism; depression; Type 2 Diabetes| edema | rosiglitazone; Atrial Fibrillation; cytokines; tumor markers; hypoglycemia; cutaneous reactions to sulfonamides; normal variation; drug-related genes ; tenoxicam concentrations; blood and blood forming organ disorders; Acute Coronary Syndrome|Cardiovascular Diseases|Thrombosis; hepatoxicity, drug-induced; oral antidiabetic pharacokinetics; Atherosclerosis|Cardiovascular Diseases|Ischemia; atherosclerosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; candesartan; blood pressure, arterial; Gastrointestinal Hemorrhage; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IMP|GO:0016098;monoterpenoid metabolic process;IDA|GO:0017144;drug metabolic process;IMP|GO:0019373;epoxygenase P450 pathway;TAS|GO:0019627;urea metabolic process;IDA|GO:0032787;monocarboxylic acid metabolic process;IDA|GO:0042737;drug catabolic process;IMP|GO:0042738;exogenous drug catabolic process;IDA|GO:0043603;cellular amide metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001567;cholesterol 25-hydroxylase activity;IEA|GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008144;drug binding;IDA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0008395;steroid hydroxylase activity;IMP|GO:0016491;oxidoreductase activity;IDA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018675;(S)-limonene 6-monooxygenase activity;IEA|GO:0018676;(S)-limonene 7-monooxygenase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0052741;(R)-limonene 6-monooxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C9	https://www.uniprot.org/uniprot/P11712	https://hpo.jax.org/app/browse/search?q=CYP2C9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601130	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C9&submit=Quick%0D%7676ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C9	rs9332104	0.144369	0	0	1	0	0	intronic	intronic	intronic	CYP2C9	CYP2C9	ENSG00000138109	Na	Na	Na	Na	Na	Na	Het;T>C	366;29|23	Hom;T>C	1586;0|61
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96701850	96701850	T	C	snp	intronic	 	 	 	 	CYP2C9	Cyp2c66	ENSG00000138109	cytochrome P450 family 2 subfamily C member 9	chr10:96698415-96749147	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]	duodenal ulcer, NSAID-ralted gastric ulcer, NSAID-ralted; rosuvastatin pharmacokinetics; Behcet's disease; warfarin response; warfarin maintenance dose; Venous Thromboembolism; Peptic Ulcer|Peptic Ulcer Hemorrhage; hypertension; H. pylori infection; glyburide pharmacokinetics; Arthritis, Rheumatoid|Diarrhea|Nausea|Pruritus|Vomiting; gastrointestingal health; sulphamethoxazole hypersensitivity; Delta9-tetrahydrocannabinol; Budd-Chiari Syndrome; warfarin sensitivity; nomal variation; Adenoma|Colorectal Neoplasms; premature ovarian failure; lupus nephritis; gastric ulceration; Thromboembolism; Coronary Artery Disease|; clozapine; Venous Thrombosis; Body Weight|Thromboembolism; cyclophosphamide pharmacokinetics; null; carvedilol pharmacokinetics; Helicobacter Infections; cardiovascular disease; bladder cancer; Neoplasms; Adenoma|Colorectal Neoplasms|; hypertension; hypercholesterolemia; H. pylori infection; coagulation disorder; chlorpropamide pharmacokinetics; Diabetes Mellitus, Type 2|Hypoglycemia; anticoagulant complications; ibuprofen clearance; Leukemia, Lymphocytic, Chronic, B-Cell; Hypercholesterolemia; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; coagulation disorder; hyperlipidemia; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; methadone pharmacokinetics methadone treatment outcome; epithelial ovarian cancer ; Epilepsy|Malnutrition; warfarin therapy, response to; Arthritis, Rheumatoid; pharmacogenetic studies; Hemorrhage|Thromboembolism|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; Drug-Induced Liver Injury|Hepatitis, Toxic; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; coagulation warfarin sensitivity; Gastrointestinal Diseases|; Colonic Neoplasms|Microsatellite Instability; anticoagulant complications; bleeding events, warfarin therapy-related; overanticoagulation, warfarin therapy-related; piroxicam pharmacokinetics; epilepsy; anticoagulant complications; phenytoin; platelet aggregation; warfarin therapy; acenocoumarol, sensitivity; Lichen Planus, Oral; Pulmonary Embolism|Venous Thrombosis; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; leukemia, childhood acute; hypertension; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Alzheimer's disease ; Type 2 diabetes; thioridazine plasma levels; heart rate; risperidone metabolism; Kidney Failure, Chronic|Proteinuria; cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;; acenocoumarol pharmacokinetics; glimepiride pharmacokinetics; Polycystic Ovary Syndrome; Heart Failure; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; seizures; thrombosis, deep vein; systemic sclerosis; depressive disorder, major; Atrophy|Peptic Ulcer; clopidogrel ; glibenclamide pharmacokinetics lornoxicam pharmacokinetics; Cardiovascular Diseases|Myocardial Infarction|Stroke; Coronary Artery Disease; fluoxetine pharmacokinetics; seizures; thrombosis, deep vein; Tuberculosis, Pulmonary; Epilepsy; torsemide pharmacokinetics; methadone levels; diabetes, type 2; liver disease; lung cancer; liver cancer; irbesartan phamacokinetics; lipids; indisulam pharmacokinetics; acenocoumarol anticoagulation; acenocoumarol maintenance dosage; lung cancer; Epilepsy|Neurotoxicity Syndromes; Muscular Diseases; oral anticoagulants; Essential Tremor; blood pressure; Warfarin response; diclofenac pharmacokinetics and pharmacodynamics; tolbutamide pharmacokinetics; anticoagulant response of acenocoumarol; Multiple Chemical Sensitivity; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; Atrial Fibrillation|Venous Thrombosis; Epilepsy|; Hypercholesterolemia|LDLC levels; Epilepsies, Partial|Gingival Hyperplasia; losartan oxidation; glucose; insulin secretion; bleeding complications; lymphoma, Non-Hodgkin's; Thrombosis; pharmacogenetic diversity ; enantiomers of ibuprofen; Multiple Myeloma; colorectal cancer; drug hypersensitivity; E7070 phamacokinetics; obesity; Lymphoma, Non-Hodgkin; tenoxicam bioequivalence; Acute Coronary Syndrome|Recurrence; Hematologic Diseases|Neutropenia|Thrombocytopenia; Myocardial Infarction; Blood Coagulation Disorders, Inherited; lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity; Drug-Induced Liver Injury; Acute Coronary Syndrome|; doxepin metabolism; asthma; Hypertension; clopidogrel; Cardiovascular Diseases; esophageal adenocarcinoma; hematology indices; Hemorrhage; acenocoumarol and phenprocoumon; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; trimipramine pharmakokinetics; patent ductus arteriosus; phenytoin levels; nonsteroidal anti-inflammatory response; flubiprofen metabolism; acenocoumarol response; cutaneous adverse drug reaction; tamoxifen, metabolism; diabetes, type 2; heart disease; epilepsy; prostate cancer; Warfarin; carbamazepine hypersensitivity; Hemorrhage|Thromboembolism; breast cancer ; Perioperative genomic profiles ; Renal Insufficiency|Thrombophilia; gliclazide pharmacokinetics; Cocarcinogenesis|Neoplasms; myocardial infarct; coumarin sensitivity; phenprocoumon; Hypertension, Renal; Rhinitis, Allergic, Perennial; Body Weight; lornoxicam pharmacokinetics; anticoagulant complications; bleeding complications; Hyperlipidemias; Echocardiography; Hodgkin Disease; pharmacogenetic variation; haloperidol, plasma; over anticoagulation; gastrointestinal bleeding; phenprocoumon requirements; anticoagulant complications; Cardiovascular Diseases|Hemorrhage; Myocardial Infarction|Stroke; breast cancer; Antiphospholipid Syndrome|Hemorrhage|Recurrence|Thrombosis; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; cyclophosphamide phamacokinetics; CYP2C9 activity; Hemorrhage|Thrombosis; Gastrointestinal Hemorrhage|; Heart Diseases; Dehydroepiandrosterone Sulfate; endoxifen; BMI- Edema rosiglitazone or pioglitazone; Glomerulonephritis, IGA; phenobarbital clearance; diclofenac metabolism; phenytoin metabolism; depression; Type 2 Diabetes| edema | rosiglitazone; Atrial Fibrillation; cytokines; tumor markers; hypoglycemia; cutaneous reactions to sulfonamides; normal variation; drug-related genes ; tenoxicam concentrations; blood and blood forming organ disorders; Acute Coronary Syndrome|Cardiovascular Diseases|Thrombosis; hepatoxicity, drug-induced; oral antidiabetic pharacokinetics; Atherosclerosis|Cardiovascular Diseases|Ischemia; atherosclerosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; candesartan; blood pressure, arterial; Gastrointestinal Hemorrhage; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IMP|GO:0016098;monoterpenoid metabolic process;IDA|GO:0017144;drug metabolic process;IMP|GO:0019373;epoxygenase P450 pathway;TAS|GO:0019627;urea metabolic process;IDA|GO:0032787;monocarboxylic acid metabolic process;IDA|GO:0042737;drug catabolic process;IMP|GO:0042738;exogenous drug catabolic process;IDA|GO:0043603;cellular amide metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001567;cholesterol 25-hydroxylase activity;IEA|GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008144;drug binding;IDA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0008395;steroid hydroxylase activity;IMP|GO:0016491;oxidoreductase activity;IDA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018675;(S)-limonene 6-monooxygenase activity;IEA|GO:0018676;(S)-limonene 7-monooxygenase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0052741;(R)-limonene 6-monooxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C9	https://www.uniprot.org/uniprot/P11712	https://hpo.jax.org/app/browse/search?q=CYP2C9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601130	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C9&submit=Quick%0D%7676ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C9	rs9332120	0.144169	0	0	1	0	0	intronic	intronic	intronic	CYP2C9	CYP2C9	ENSG00000138109	Na	Na	Na	Na	Na	Na	Het;T>C	554;34|26	Hom;T>C	1224;1|43
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96732097	96732097	A	G	snp	intronic	 	 	 	 	CYP2C9	Cyp2c66	ENSG00000138109	cytochrome P450 family 2 subfamily C member 9	chr10:96698415-96749147	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]	duodenal ulcer, NSAID-ralted gastric ulcer, NSAID-ralted; rosuvastatin pharmacokinetics; Behcet's disease; warfarin response; warfarin maintenance dose; Venous Thromboembolism; Peptic Ulcer|Peptic Ulcer Hemorrhage; hypertension; H. pylori infection; glyburide pharmacokinetics; Arthritis, Rheumatoid|Diarrhea|Nausea|Pruritus|Vomiting; gastrointestingal health; sulphamethoxazole hypersensitivity; Delta9-tetrahydrocannabinol; Budd-Chiari Syndrome; warfarin sensitivity; nomal variation; Adenoma|Colorectal Neoplasms; premature ovarian failure; lupus nephritis; gastric ulceration; Thromboembolism; Coronary Artery Disease|; clozapine; Venous Thrombosis; Body Weight|Thromboembolism; cyclophosphamide pharmacokinetics; null; carvedilol pharmacokinetics; Helicobacter Infections; cardiovascular disease; bladder cancer; Neoplasms; Adenoma|Colorectal Neoplasms|; hypertension; hypercholesterolemia; H. pylori infection; coagulation disorder; chlorpropamide pharmacokinetics; Diabetes Mellitus, Type 2|Hypoglycemia; anticoagulant complications; ibuprofen clearance; Leukemia, Lymphocytic, Chronic, B-Cell; Hypercholesterolemia; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; coagulation disorder; hyperlipidemia; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; methadone pharmacokinetics methadone treatment outcome; epithelial ovarian cancer ; Epilepsy|Malnutrition; warfarin therapy, response to; Arthritis, Rheumatoid; pharmacogenetic studies; Hemorrhage|Thromboembolism|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; Drug-Induced Liver Injury|Hepatitis, Toxic; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; coagulation warfarin sensitivity; Gastrointestinal Diseases|; Colonic Neoplasms|Microsatellite Instability; anticoagulant complications; bleeding events, warfarin therapy-related; overanticoagulation, warfarin therapy-related; piroxicam pharmacokinetics; epilepsy; anticoagulant complications; phenytoin; platelet aggregation; warfarin therapy; acenocoumarol, sensitivity; Lichen Planus, Oral; Pulmonary Embolism|Venous Thrombosis; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; leukemia, childhood acute; hypertension; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Alzheimer's disease ; Type 2 diabetes; thioridazine plasma levels; heart rate; risperidone metabolism; Kidney Failure, Chronic|Proteinuria; cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;; acenocoumarol pharmacokinetics; glimepiride pharmacokinetics; Polycystic Ovary Syndrome; Heart Failure; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; seizures; thrombosis, deep vein; systemic sclerosis; depressive disorder, major; Atrophy|Peptic Ulcer; clopidogrel ; glibenclamide pharmacokinetics lornoxicam pharmacokinetics; Cardiovascular Diseases|Myocardial Infarction|Stroke; Coronary Artery Disease; fluoxetine pharmacokinetics; seizures; thrombosis, deep vein; Tuberculosis, Pulmonary; Epilepsy; torsemide pharmacokinetics; methadone levels; diabetes, type 2; liver disease; lung cancer; liver cancer; irbesartan phamacokinetics; lipids; indisulam pharmacokinetics; acenocoumarol anticoagulation; acenocoumarol maintenance dosage; lung cancer; Epilepsy|Neurotoxicity Syndromes; Muscular Diseases; oral anticoagulants; Essential Tremor; blood pressure; Warfarin response; diclofenac pharmacokinetics and pharmacodynamics; tolbutamide pharmacokinetics; anticoagulant response of acenocoumarol; Multiple Chemical Sensitivity; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; Atrial Fibrillation|Venous Thrombosis; Epilepsy|; Hypercholesterolemia|LDLC levels; Epilepsies, Partial|Gingival Hyperplasia; losartan oxidation; glucose; insulin secretion; bleeding complications; lymphoma, Non-Hodgkin's; Thrombosis; pharmacogenetic diversity ; enantiomers of ibuprofen; Multiple Myeloma; colorectal cancer; drug hypersensitivity; E7070 phamacokinetics; obesity; Lymphoma, Non-Hodgkin; tenoxicam bioequivalence; Acute Coronary Syndrome|Recurrence; Hematologic Diseases|Neutropenia|Thrombocytopenia; Myocardial Infarction; Blood Coagulation Disorders, Inherited; lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity; Drug-Induced Liver Injury; Acute Coronary Syndrome|; doxepin metabolism; asthma; Hypertension; clopidogrel; Cardiovascular Diseases; esophageal adenocarcinoma; hematology indices; Hemorrhage; acenocoumarol and phenprocoumon; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; trimipramine pharmakokinetics; patent ductus arteriosus; phenytoin levels; nonsteroidal anti-inflammatory response; flubiprofen metabolism; acenocoumarol response; cutaneous adverse drug reaction; tamoxifen, metabolism; diabetes, type 2; heart disease; epilepsy; prostate cancer; Warfarin; carbamazepine hypersensitivity; Hemorrhage|Thromboembolism; breast cancer ; Perioperative genomic profiles ; Renal Insufficiency|Thrombophilia; gliclazide pharmacokinetics; Cocarcinogenesis|Neoplasms; myocardial infarct; coumarin sensitivity; phenprocoumon; Hypertension, Renal; Rhinitis, Allergic, Perennial; Body Weight; lornoxicam pharmacokinetics; anticoagulant complications; bleeding complications; Hyperlipidemias; Echocardiography; Hodgkin Disease; pharmacogenetic variation; haloperidol, plasma; over anticoagulation; gastrointestinal bleeding; phenprocoumon requirements; anticoagulant complications; Cardiovascular Diseases|Hemorrhage; Myocardial Infarction|Stroke; breast cancer; Antiphospholipid Syndrome|Hemorrhage|Recurrence|Thrombosis; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; cyclophosphamide phamacokinetics; CYP2C9 activity; Hemorrhage|Thrombosis; Gastrointestinal Hemorrhage|; Heart Diseases; Dehydroepiandrosterone Sulfate; endoxifen; BMI- Edema rosiglitazone or pioglitazone; Glomerulonephritis, IGA; phenobarbital clearance; diclofenac metabolism; phenytoin metabolism; depression; Type 2 Diabetes| edema | rosiglitazone; Atrial Fibrillation; cytokines; tumor markers; hypoglycemia; cutaneous reactions to sulfonamides; normal variation; drug-related genes ; tenoxicam concentrations; blood and blood forming organ disorders; Acute Coronary Syndrome|Cardiovascular Diseases|Thrombosis; hepatoxicity, drug-induced; oral antidiabetic pharacokinetics; Atherosclerosis|Cardiovascular Diseases|Ischemia; atherosclerosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; candesartan; blood pressure, arterial; Gastrointestinal Hemorrhage; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IMP|GO:0016098;monoterpenoid metabolic process;IDA|GO:0017144;drug metabolic process;IMP|GO:0019373;epoxygenase P450 pathway;TAS|GO:0019627;urea metabolic process;IDA|GO:0032787;monocarboxylic acid metabolic process;IDA|GO:0042737;drug catabolic process;IMP|GO:0042738;exogenous drug catabolic process;IDA|GO:0043603;cellular amide metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001567;cholesterol 25-hydroxylase activity;IEA|GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008144;drug binding;IDA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0008395;steroid hydroxylase activity;IMP|GO:0016491;oxidoreductase activity;IDA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018675;(S)-limonene 6-monooxygenase activity;IEA|GO:0018676;(S)-limonene 7-monooxygenase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0052741;(R)-limonene 6-monooxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C9	https://www.uniprot.org/uniprot/P11712	https://hpo.jax.org/app/browse/search?q=CYP2C9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601130	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C9&submit=Quick%0D%7676ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C9	rs9332174	0.147364	0	0	1	0	0	intronic	intronic	intronic	CYP2C9	CYP2C9	ENSG00000138109	Na	Na	Na	Na	Na	Na	Het;A>G	387;14|16	Hom;A>G	1371;1|42
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96796861	96796861	G	A	snp	UTR3	*1283C>T	 	 	 	CYP2C8	Cyp2c39	ENSG00000138115	cytochrome P450 family 2 subfamily C member 8	chr10:96796530-96829254	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	drug-related genes ; Hypercholesterolemia|LDLC levels; head and neck cancer; ibuprofen clearance; rosiglitazone pharmacokinetics; Myocardial Infarction|Stroke; ovarian cancer ; myocardial infarct; drug hypersensitivity; paclitaxel pharmacokinetics; heart disease, ischemic; anticoagulant complications; ibuprofen clearance; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; ovarian cancer; Hyperlipidemias; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; hepatotoxicity, diclofenac-induced; null; oral antidiabetic pharacokinetics; Muscular Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Coronary Artery Disease; repaglinide pharmacology; malaria; Hemoglobins; hypertension; Myocardial Infarction; Chronic renal failure|Kidney Failure, Chronic; enantiomers of ibuprofen; Epilepsy; breast cancer paclitaxel pharmacokinetics; colorectal cancer; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth; Kidney Failure, Chronic; Malaria, Falciparum; breast cancer ; osteonecrosis of the jaw; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; normal variation; carbamazepine hypersensitivity; epithelial ovarian cancer ; Genitourinary Neoplasms|Urogenital Neoplasms; warfarin sensitivity; Gastrointestinal Hemorrhage; lung cancer ; Jaw Diseases|Multiple Myeloma|Osteonecrosis; visual disorder; Type 2 Diabetes| edema | rosiglitazone; Osteonecrosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; reduced plasma concentrations of repaglinide; Essential Tremor; Hematocrit; Adenoma|Colorectal Neoplasms; malaria, plasmodium falciparum; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; tenoxicam bioequivalence; Epilepsy|; Type 2 diabetes; repaglinide pharmacokinetics	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0002933;lipid hydroxylation;IDA|GO:0006082;organic acid metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C8	https://www.uniprot.org/uniprot/P10632		https://www.ncbi.nlm.nih.gov/omim/?term=601129	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C8&submit=Quick%0D%7678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C8	rs1058932	0.301118	0.2443	0.2303	1	0	0	UTR3	UTR3	UTR3	CYP2C8(NM_001198855:c.*24C>T,NM_001198854:c.*24C>T,NM_000770:c.*24C>T,NM_001198853:c.*24C>T)	CYP2C8(uc021pwl.1:c.*24C>T,uc010qoa.2:c.*24C>T,uc001kkb.3:c.*24C>T,uc010qoc.2:c.*24C>T,uc010qob.2:c.*24C>T)	ENSG00000138115(ENST00000490994:c.*1283C>T,ENST00000371270:c.*24C>T,ENST00000527420:c.*354C>T,ENST00000535898:c.*24C>T,ENST00000525991:c.*1072C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	813;43|41	Hom;G>A	1620;0|60
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96818106	96818106	T	A	snp	nonsynonymous SNV	A595T	I199F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CYP2C8	Cyp2c39	ENSG00000138115	cytochrome P450 family 2 subfamily C member 8	chr10:96796530-96829254	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	drug-related genes ; Hypercholesterolemia|LDLC levels; head and neck cancer; ibuprofen clearance; rosiglitazone pharmacokinetics; Myocardial Infarction|Stroke; ovarian cancer ; myocardial infarct; drug hypersensitivity; paclitaxel pharmacokinetics; heart disease, ischemic; anticoagulant complications; ibuprofen clearance; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; ovarian cancer; Hyperlipidemias; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; hepatotoxicity, diclofenac-induced; null; oral antidiabetic pharacokinetics; Muscular Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Coronary Artery Disease; repaglinide pharmacology; malaria; Hemoglobins; hypertension; Myocardial Infarction; Chronic renal failure|Kidney Failure, Chronic; enantiomers of ibuprofen; Epilepsy; breast cancer paclitaxel pharmacokinetics; colorectal cancer; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth; Kidney Failure, Chronic; Malaria, Falciparum; breast cancer ; osteonecrosis of the jaw; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; normal variation; carbamazepine hypersensitivity; epithelial ovarian cancer ; Genitourinary Neoplasms|Urogenital Neoplasms; warfarin sensitivity; Gastrointestinal Hemorrhage; lung cancer ; Jaw Diseases|Multiple Myeloma|Osteonecrosis; visual disorder; Type 2 Diabetes| edema | rosiglitazone; Osteonecrosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; reduced plasma concentrations of repaglinide; Essential Tremor; Hematocrit; Adenoma|Colorectal Neoplasms; malaria, plasmodium falciparum; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; tenoxicam bioequivalence; Epilepsy|; Type 2 diabetes; repaglinide pharmacokinetics	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0002933;lipid hydroxylation;IDA|GO:0006082;organic acid metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C8	https://www.uniprot.org/uniprot/P10632		https://www.ncbi.nlm.nih.gov/omim/?term=601129	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C8&submit=Quick%0D%7678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C8	rs11572103	0.0547125	0.0554	0.0194	0.75	9	12	exonic	exonic	exonic	CYP2C8	CYP2C8	ENSG00000138115	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2C8:NM_001198853:exon5:c.A595T:p.I199F,CYP2C8:NM_001198855:exon6:c.A595T:p.I199F,CYP2C8:NM_001198854:exon4:c.A499T:p.I167F,CYP2C8:NM_000770:exon5:c.A805T:p.I269F,	CYP2C8:uc010qoc.2:exon4:c.A499T:p.I167F,CYP2C8:uc010qob.2:exon4:c.A547T:p.I183F,CYP2C8:uc010qod.1:exon4:c.A547T:p.I183F,CYP2C8:uc021pwl.1:exon6:c.A595T:p.I199F,CYP2C8:uc010qoa.2:exon5:c.A595T:p.I199F,CYP2C8:uc001kkb.3:exon5:c.A805T:p.I269F,	UNKNOWN	Het;T>A	1357;71|69	Hom;T>A	2633;2|99
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96827150	96827150	C	T	snp	nonsynonymous SNV	G38A	C13Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	CYP2C8	Cyp2c39	ENSG00000138115	cytochrome P450 family 2 subfamily C member 8	chr10:96796530-96829254	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	drug-related genes ; Hypercholesterolemia|LDLC levels; head and neck cancer; ibuprofen clearance; rosiglitazone pharmacokinetics; Myocardial Infarction|Stroke; ovarian cancer ; myocardial infarct; drug hypersensitivity; paclitaxel pharmacokinetics; heart disease, ischemic; anticoagulant complications; ibuprofen clearance; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; ovarian cancer; Hyperlipidemias; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; hepatotoxicity, diclofenac-induced; null; oral antidiabetic pharacokinetics; Muscular Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Coronary Artery Disease; repaglinide pharmacology; malaria; Hemoglobins; hypertension; Myocardial Infarction; Chronic renal failure|Kidney Failure, Chronic; enantiomers of ibuprofen; Epilepsy; breast cancer paclitaxel pharmacokinetics; colorectal cancer; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth; Kidney Failure, Chronic; Malaria, Falciparum; breast cancer ; osteonecrosis of the jaw; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; normal variation; carbamazepine hypersensitivity; epithelial ovarian cancer ; Genitourinary Neoplasms|Urogenital Neoplasms; warfarin sensitivity; Gastrointestinal Hemorrhage; lung cancer ; Jaw Diseases|Multiple Myeloma|Osteonecrosis; visual disorder; Type 2 Diabetes| edema | rosiglitazone; Osteonecrosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; reduced plasma concentrations of repaglinide; Essential Tremor; Hematocrit; Adenoma|Colorectal Neoplasms; malaria, plasmodium falciparum; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; tenoxicam bioequivalence; Epilepsy|; Type 2 diabetes; repaglinide pharmacokinetics	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0002933;lipid hydroxylation;IDA|GO:0006082;organic acid metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C8	https://www.uniprot.org/uniprot/P10632		https://www.ncbi.nlm.nih.gov/omim/?term=601129	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C8&submit=Quick%0D%7678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C8	rs11572076	0.053115	0.0521	0.0184	0.12	1	8	intronic	exonic	exonic	CYP2C8	CYP2C8	ENSG00000138115	Na	nonsynonymous SNV	unknown	Na	CYP2C8:uc010qob.2:exon2:c.G38A:p.C13Y,CYP2C8:uc010qod.1:exon2:c.G38A:p.C13Y,	UNKNOWN	Het;C>T	117;24|8	Hom;C>T	577;2|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96933010	96933011	CT	C	indel	intergenic	 	 	 	 	AL157834.1																		rs146175679	0	0	0	1	0	0	intergenic	intergenic	intergenic	CYP2C8(dist=103756),ACSM6(dist=20946)	CYP2C8(dist=103756),C10orf129(dist=20946)	ENSG00000231829(dist=4828),ENSG00000225533(dist=10399)	Na	Na	Na	Na	Na	Na	Het;-T	145;12|9	Hom;-T	644;0|25
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96997589	96997589	A	G	snp	UTR3	*93T>C	 	 	 	PDLIM1	Pdlim1	ENSG00000107438	PDZ and LIM domain 1	chr10:96997329-97050781	This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]	Crohn's disease; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis.		GO:0001666;response to hypoxia;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006979;response to oxidative stress;TAS|GO:0098609;cell-cell adhesion;IEA	GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA	GO:0003713;transcription coactivator activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM1	https://www.uniprot.org/uniprot/O00151		https://www.ncbi.nlm.nih.gov/omim/?term=605900	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM1&submit=Quick%0D%3606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM1	rs1049961	0.272963	0	0	1	0	0	UTR3	UTR3	UTR3	PDLIM1(NM_020992:c.*93T>C)	PDLIM1(uc001kkh.4:c.*93T>C)	ENSG00000107438(ENST00000329399:c.*93T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	204;1|7	Hom;A>G	262;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96998458	96998458	C	T	snp	intronic	 	 	 	 	PDLIM1	Pdlim1	ENSG00000107438	PDZ and LIM domain 1	chr10:96997329-97050781	This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]	Crohn's disease; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis.		GO:0001666;response to hypoxia;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006979;response to oxidative stress;TAS|GO:0098609;cell-cell adhesion;IEA	GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA	GO:0003713;transcription coactivator activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM1	https://www.uniprot.org/uniprot/O00151		https://www.ncbi.nlm.nih.gov/omim/?term=605900	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM1&submit=Quick%0D%3606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM1	rs2901832	0.101038	0.1547	0.1579	1	0	0	intronic	intronic	intronic	PDLIM1	PDLIM1	ENSG00000107438	Na	Na	Na	Na	Na	Na	Het;C>T	690;24|34	Hom;C>T	911;0|35
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	96998519	96998519	T	C	snp	intronic	 	 	 	 	PDLIM1	Pdlim1	ENSG00000107438	PDZ and LIM domain 1	chr10:96997329-97050781	This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]	Crohn's disease; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis.		GO:0001666;response to hypoxia;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006979;response to oxidative stress;TAS|GO:0098609;cell-cell adhesion;IEA	GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA	GO:0003713;transcription coactivator activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM1	https://www.uniprot.org/uniprot/O00151		https://www.ncbi.nlm.nih.gov/omim/?term=605900	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM1&submit=Quick%0D%3606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM1	rs2860998	0.273562	0	0	1	0	0	intronic	intronic	intronic	PDLIM1	PDLIM1	ENSG00000107438	Na	Na	Na	Na	Na	Na	Het;T>C	190;8|8	Hom;T>C	472;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97082398	97082398	A	G	snp	intronic	 	 	 	 	SORBS1	Sorbs1	ENSG00000095637	sorbin and SH3 domain containing 1	chr10:97071528-97321171	This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease 	Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.	Smooth Muscle Contraction	GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS	GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS	GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SORBS1	https://www.uniprot.org/uniprot/Q9BX66		https://www.ncbi.nlm.nih.gov/omim/?term=605264	http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1	rs12250022	0.0852636	0	0	1	0	0	intronic	intronic	intronic	SORBS1	SORBS1	ENSG00000095637	Na	Na	Na	Na	Na	Na	Het;A>G	119;2|5	Hom;A>G	578;0|16
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97141487	97141487	G	A	snp	synonymous SNV	C1176T	Y392Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	SORBS1	Sorbs1	ENSG00000095637	sorbin and SH3 domain containing 1	chr10:97071528-97321171	This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease 	Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.	Smooth Muscle Contraction	GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS	GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS	GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SORBS1	https://www.uniprot.org/uniprot/Q9BX66		https://www.ncbi.nlm.nih.gov/omim/?term=605264	http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1	rs61739184	0.0455272	0.0232	0.0390	1	0	0	exonic	exonic	exonic	SORBS1	SORBS1	ENSG00000095637	synonymous SNV	synonymous SNV	unknown	SORBS1:NM_001290295:exon14:c.C1005T:p.Y335Y,SORBS1:NM_006434:exon11:c.C978T:p.Y326Y,SORBS1:NM_001034955:exon16:c.C1674T:p.Y558Y,SORBS1:NM_001290294:exon16:c.C1470T:p.Y490Y,SORBS1:NM_001034954:exon16:c.C1608T:p.Y536Y,SORBS1:NM_001034956:exon14:c.C1263T:p.Y421Y,SORBS1:NM_001290298:exon14:c.C1212T:p.Y404Y,SORBS1:NM_015385:exon15:c.C1374T:p.Y458Y,SORBS1:NM_001290297:exon12:c.C1005T:p.Y335Y,SORBS1:NM_001034957:exon11:c.C978T:p.Y326Y,SORBS1:NM_001290296:exon14:c.C1518T:p.Y506Y,SORBS1:NM_024991:exon15:c.C1101T:p.Y367Y,	SORBS1:uc001kkm.3:exon13:c.C1176T:p.Y392Y,SORBS1:uc010qoe.2:exon14:c.C1005T:p.Y335Y,SORBS1:uc001kkv.3:exon15:c.C1374T:p.Y458Y,SORBS1:uc001kkl.3:exon10:c.C414T:p.Y138Y,SORBS1:uc001kkr.3:exon11:c.C978T:p.Y326Y,SORBS1:uc001kks.3:exon11:c.C978T:p.Y326Y,SORBS1:uc001kkp.3:exon16:c.C1608T:p.Y536Y,SORBS1:uc001kku.3:exon15:c.C1101T:p.Y367Y,SORBS1:uc001kkw.3:exon16:c.C1470T:p.Y490Y,SORBS1:uc010qof.1:exon15:c.C2064T:p.Y688Y,SORBS1:uc001kkk.3:exon3:c.C342T:p.Y114Y,SORBS1:uc001kko.3:exon16:c.C1674T:p.Y558Y,SORBS1:uc001kkq.3:exon14:c.C1263T:p.Y421Y,SORBS1:uc001kkn.3:exon11:c.C969T:p.Y323Y,	UNKNOWN	Het;G>A	1682;83|78	Hom;G>A	4284;0|159
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97174352	97174352	T	C	snp	nonsynonymous SNV	A709G	T237A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SORBS1	Sorbs1	ENSG00000095637	sorbin and SH3 domain containing 1	chr10:97071528-97321171	This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease 	Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.	Smooth Muscle Contraction	GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS	GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS	GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SORBS1	https://www.uniprot.org/uniprot/Q9BX66		https://www.ncbi.nlm.nih.gov/omim/?term=605264	http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1	rs2281939	0.160144	0.1375	0.0894	0.23	3	13	exonic	exonic	exonic	SORBS1	SORBS1	ENSG00000095637	nonsynonymous SNV	nonsynonymous SNV	unknown	SORBS1:NM_001034955:exon7:c.A709G:p.T237A,SORBS1:NM_001290294:exon9:c.A709G:p.T237A,SORBS1:NM_001034954:exon7:c.A709G:p.T237A,SORBS1:NM_001034956:exon7:c.A502G:p.T168A,SORBS1:NM_015385:exon8:c.A613G:p.T205A,SORBS1:NM_001290296:exon6:c.A682G:p.T228A,	SORBS1:uc001kkv.3:exon8:c.A613G:p.T205A,SORBS1:uc001kkx.1:exon9:c.A613G:p.T205A,SORBS1:uc001kkp.3:exon7:c.A709G:p.T237A,SORBS1:uc001kkw.3:exon9:c.A709G:p.T237A,SORBS1:uc010qof.1:exon8:c.A1303G:p.T435A,SORBS1:uc001kko.3:exon7:c.A709G:p.T237A,SORBS1:uc001kkq.3:exon7:c.A502G:p.T168A,	UNKNOWN	Het;T>C	1027;67|51	Hom;T>C	2818;1|104
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97174537	97174537	C	A	snp	nonsynonymous SNV	G524T	G175V	aliphatic,neutral	aliphatic,hydrophobic,neutral	SORBS1	Sorbs1	ENSG00000095637	sorbin and SH3 domain containing 1	chr10:97071528-97321171	This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease 	Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.	Smooth Muscle Contraction	GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS	GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS	GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SORBS1	https://www.uniprot.org/uniprot/Q9BX66		https://www.ncbi.nlm.nih.gov/omim/?term=605264	http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1	rs7081076	0.0628994	0.0372	0.0428	0.62	8	13	exonic	exonic	exonic	SORBS1	SORBS1	ENSG00000095637	nonsynonymous SNV	nonsynonymous SNV	unknown	SORBS1:NM_001034955:exon7:c.G524T:p.G175V,SORBS1:NM_001290294:exon9:c.G524T:p.G175V,SORBS1:NM_001034954:exon7:c.G524T:p.G175V,SORBS1:NM_015385:exon8:c.G428T:p.G143V,SORBS1:NM_001290296:exon6:c.G497T:p.G166V,	SORBS1:uc001kkv.3:exon8:c.G428T:p.G143V,SORBS1:uc001kkx.1:exon9:c.G428T:p.G143V,SORBS1:uc001kkp.3:exon7:c.G524T:p.G175V,SORBS1:uc001kkw.3:exon9:c.G524T:p.G175V,SORBS1:uc010qof.1:exon8:c.G1118T:p.G373V,SORBS1:uc001kko.3:exon7:c.G524T:p.G175V,	UNKNOWN	Het;C>A	1329;71|67	Hom;C>A	3678;1|140
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97440098	97440101	CACT	C	indel	intronic	 	 	 	 	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs778806524	0	0	0	1	0	0	intronic	intronic	intronic	TCTN3	TCTN3	ENSG00000119977	Na	Na	Na	Na	Na	Na	Het;-ACT	122;3|4	Hom;-ACT	323;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97440103	97440103	T	TGG	indel	intronic	 	 	 	 	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs758547345	0	0	0	1	0	0	intronic	intronic	intronic	TCTN3	TCTN3	ENSG00000119977	Na	Na	Na	Na	Na	Na	Het;+GG	122;3|4	Hom;+GG	323;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97440106	97440106	A	G	snp	intronic	 	 	 	 	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs771299869	0	0	0	1	0	0	intronic	intronic	intronic	TCTN3	TCTN3	ENSG00000119977	Na	Na	Na	Na	Na	Na	Het;A>G	128;3|4	Hom;A>G	332;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97440107	97440108	CA	C	indel	intronic	 	 	 	 	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs71483995	0	0	0	1	0	0	intronic	intronic	intronic	TCTN3	TCTN3	ENSG00000119977	Na	Na	Na	Na	Na	Na	Het;-A	119;4|4	Hom;-A	323;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97445501	97445503	CCT	C	indel	intronic	 	 	 	 	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs34680340	0.426118	0	0	1	0	0	intronic	intronic	intronic	TCTN3	TCTN3	ENSG00000119977	Na	Na	Na	Na	Na	Na	Het;-CT	103;2|4	Hom;-CT	121;0|4
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97446206	97446206	G	A	snp	intronic	 	 	 	 	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs2297788	0.42512	0.3525	0.3546	1	0	0	intronic	intronic	intronic	TCTN3	TCTN3	ENSG00000119977	Na	Na	Na	Na	Na	Na	Het;G>A	954;46|45	Hom;G>A	2790;0|102
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97447373	97447373	A	T	snp	synonymous SNV	T657A	T219T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs10786229	0.42472	0.3518	0.3544	1	0	0	exonic	exonic	exonic	TCTN3	TCTN3	ENSG00000119977	synonymous SNV	synonymous SNV	unknown	TCTN3:NM_015631:exon4:c.T603A:p.T201T,	TCTN3:uc001kld.3:exon4:c.T657A:p.T219T,TCTN3:uc001klb.4:exon4:c.T603A:p.T201T,TCTN3:uc009xux.1:exon3:c.T150A:p.T50T,	UNKNOWN	Het;A>T	733;36|38	Hom;A>T	1771;0|66
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97447487	97447487	T	A	snp	intronic	 	 	 	 	TCTN3	Tctn3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3	rs11188434	0.195288	0.1970	0.1629	1	0	0	intronic	intronic	intronic	TCTN3	TCTN3	ENSG00000119977	Na	Na	Na	Na	Na	Na	Het;T>A	655;31|33	Hom;T>A	1389;0|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97963538	97963539	TA	T	indel	ncRNA_intronic	 	 	 	 	ZNF518A	Zfp518a	ENSG00000177853	zinc finger protein 518A	chr10:97889472-97965044	The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]	Cholesterol, LDL	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF518A				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF518A&submit=Quick%0D%14094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF518A	rs5787172	0.710264	0	0	1	0	0	intronic	intronic	ncRNA_intronic	BLNK	BLNK	ENSG00000177853	Na	Na	Na	Na	Na	Na	Het;-A	33;4|4	Hom;-A	93;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97964157	97964157	A	G	snp	ncRNA_exonic	 	 	 	 	ZNF518A	Zfp518a	ENSG00000177853	zinc finger protein 518A	chr10:97889472-97965044	The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]	Cholesterol, LDL	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF518A				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF518A&submit=Quick%0D%14094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF518A	rs2242137	0.383986	0	0	1	0	0	intronic	intronic	ncRNA_exonic	BLNK	BLNK	ENSG00000177853	Na	Na	Na	Na	Na	Na	Het;A>G	803;93|42	Hom;A>G	3766;0|84
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97975167	97975169	GTA	G	indel	intronic	 	 	 	 	BLNK	Blnk	ENSG00000095585	B-cell linker	chr10:97951458-98031344	This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for targeted null mutations exhibit a partial block in pre-B cell development, a lack of B1 B cells, reduced numbers of mature B cells, lower IgM and IgG3 serum levels, poor IgM immune responses, and a high incidence of pre-B cell lymphoma.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006954;inflammatory response;TAS|GO:0006959;humoral immune response;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030183;B cell differentiation;NAS|GO:0035556;intracellular signal transduction;IDA|GO:0042113;B cell activation;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;TAS|GO:0005070;SH3/SH2 adaptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BLNK	https://www.uniprot.org/uniprot/Q8WV28	https://hpo.jax.org/app/browse/search?q=BLNK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604515	http://www.informatics.jax.org/searchtool/Search.do?query=BLNK&submit=Quick%0D%2252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BLNK	rs141295750	0	0	0.4738	1	0	0	intronic	intronic	intronic	BLNK	BLNK	ENSG00000095585	Na	Na	Na	Na	Na	Na	Het;-TA	1159;20|46	Hom;-TA	1218;3|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	97987378	97987378	G	A	snp	intronic	 	 	 	 	BLNK	Blnk	ENSG00000095585	B-cell linker	chr10:97951458-98031344	This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for targeted null mutations exhibit a partial block in pre-B cell development, a lack of B1 B cells, reduced numbers of mature B cells, lower IgM and IgG3 serum levels, poor IgM immune responses, and a high incidence of pre-B cell lymphoma.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006954;inflammatory response;TAS|GO:0006959;humoral immune response;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030183;B cell differentiation;NAS|GO:0035556;intracellular signal transduction;IDA|GO:0042113;B cell activation;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;TAS|GO:0005070;SH3/SH2 adaptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BLNK	https://www.uniprot.org/uniprot/Q8WV28	https://hpo.jax.org/app/browse/search?q=BLNK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604515	http://www.informatics.jax.org/searchtool/Search.do?query=BLNK&submit=Quick%0D%2252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BLNK	rs34233512	0.219249	0	0	1	0	0	intronic	intronic	intronic	BLNK	BLNK	ENSG00000095585	Na	Na	Na	Na	Na	Na	Het;G>A	466;32|22	Hom;G>A	1780;0|67
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	98105618	98105618	A	C	snp	UTR3	*80T>G	 	 	 	OPALIN	Opalin	ENSG00000197430	oligodendrocytic myelin paranodal and inner loop protein	chr10:98102973-98119092			Mice homozygous for a knock-out allele show increased exploratory activity in a novel environment.			GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044291;cell-cell contact zone;IEA		http://www.genecards.org/index.php?path=/Search/keyword/OPALIN			https://www.ncbi.nlm.nih.gov/omim/?term=617200	http://www.informatics.jax.org/searchtool/Search.do?query=OPALIN&submit=Quick%0D%16625ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OPALIN	rs56148171	0.0571086	0	0	1	0	0	UTR3	UTR3	UTR3	OPALIN(NM_033207:c.*80T>G,NM_001284320:c.*80T>G,NM_001040102:c.*80T>G,NM_001284326:c.*80T>G,NM_001284324:c.*80T>G,NM_001284322:c.*80T>G,NM_001284321:c.*80T>G,NM_001040103:c.*80T>G,NM_001284323:c.*80T>G,NM_001284327:c.*80T>G)	OPALIN(uc010qor.2:c.*80T>G,uc001kmi.3:c.*80T>G,uc001kmj.3:c.*80T>G,uc001kmk.3:c.*80T>G)	ENSG00000197430(ENST00000419479:c.*80T>G,ENST00000393871:c.*80T>G,ENST00000371172:c.*80T>G,ENST00000393870:c.*80T>G,ENST00000536387:c.*80T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	1860;55|76	Hom;A>C	3428;0|110
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	98127809	98127809	A	C	snp	UTR3	*36T>G	 	 	 	TLL2	Tll2	ENSG00000095587	tolloid like 2	chr10:98124363-98273675	This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Attention Deficit Disorder with Hyperactivity; ADHD | attention-deficit hyperactivity disorder	Homozygous mutation of this gene results in increased muscle weight.	Crosslinking of collagen fibrils	GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA|GO:0048632;negative regulation of skeletal muscle tissue growth;IEA	GO:0005576;extracellular region;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLL2	https://www.uniprot.org/uniprot/Q9Y6L7		https://www.ncbi.nlm.nih.gov/omim/?term=606743	http://www.informatics.jax.org/searchtool/Search.do?query=TLL2&submit=Quick%0D%2253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLL2	rs41291624	0.0623003	0.1023	0.0848	1	0	0	UTR3	UTR3	UTR3	TLL2(NM_012465:c.*36T>G)	TLL2(uc001kml.2:c.*36T>G)	ENSG00000095587(ENST00000357947:c.*36T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	603;28|27	Hom;A>C	1572;0|50
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	98138568	98138568	G	A	snp	intronic	 	 	 	 	TLL2	Tll2	ENSG00000095587	tolloid like 2	chr10:98124363-98273675	This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Attention Deficit Disorder with Hyperactivity; ADHD | attention-deficit hyperactivity disorder	Homozygous mutation of this gene results in increased muscle weight.	Crosslinking of collagen fibrils	GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA|GO:0048632;negative regulation of skeletal muscle tissue growth;IEA	GO:0005576;extracellular region;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLL2	https://www.uniprot.org/uniprot/Q9Y6L7		https://www.ncbi.nlm.nih.gov/omim/?term=606743	http://www.informatics.jax.org/searchtool/Search.do?query=TLL2&submit=Quick%0D%2253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLL2	rs3827865	0.405551	0	0	1	0	0	intronic	intronic	intronic	TLL2	TLL2	ENSG00000095587	Na	Na	Na	Na	Na	Na	Het;G>A	31;3|2	Hom;G>A	262;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	98240045	98240045	C	T	snp	intronic	 	 	 	 	TLL2	Tll2	ENSG00000095587	tolloid like 2	chr10:98124363-98273675	This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Attention Deficit Disorder with Hyperactivity; ADHD | attention-deficit hyperactivity disorder	Homozygous mutation of this gene results in increased muscle weight.	Crosslinking of collagen fibrils	GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA|GO:0048632;negative regulation of skeletal muscle tissue growth;IEA	GO:0005576;extracellular region;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLL2	https://www.uniprot.org/uniprot/Q9Y6L7		https://www.ncbi.nlm.nih.gov/omim/?term=606743	http://www.informatics.jax.org/searchtool/Search.do?query=TLL2&submit=Quick%0D%2253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLL2	rs2281800	0.256589	0	0	1	0	0	intronic	intronic	intronic	TLL2	TLL2	ENSG00000095587	Na	Na	Na	Na	Na	Na	Het;C>T	321;11|13	Hom;C>T	926;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	98791578	98791578	T	G	snp	intronic	 	 	 	 	SLIT1	Slit1	ENSG00000187122	slit guidance ligand 1	chr10:98757795-98945677		Alzheimer's disease ; Brain	Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology.	Netrin-1 signaling	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IDA|GO:0008045;motor neuron axon guidance;IMP|GO:0021772;olfactory bulb development;IEA|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0033563;dorsal/ventral axon guidance;IEA|GO:0040023;establishment of nucleus localization;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048846;axon extension involved in axon guidance;IDA|GO:0048853;forebrain morphogenesis;NAS|GO:0050919;negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005623;cell;IEA	GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLIT1			https://www.ncbi.nlm.nih.gov/omim/?term=603742	http://www.informatics.jax.org/searchtool/Search.do?query=SLIT1&submit=Quick%0D%15783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT1	rs12049795	0.219848	0	0	1	0	0	intronic	intronic	intronic	SLIT1	SLIT1	ENSG00000187122,ENSG00000269891	Na	Na	Na	Na	Na	Na	Het;T>G	134;2|4	Hom;T>G	422;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	98791581	98791581	G	A	snp	intronic	 	 	 	 	SLIT1	Slit1	ENSG00000187122	slit guidance ligand 1	chr10:98757795-98945677		Alzheimer's disease ; Brain	Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology.	Netrin-1 signaling	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IDA|GO:0008045;motor neuron axon guidance;IMP|GO:0021772;olfactory bulb development;IEA|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0033563;dorsal/ventral axon guidance;IEA|GO:0040023;establishment of nucleus localization;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048846;axon extension involved in axon guidance;IDA|GO:0048853;forebrain morphogenesis;NAS|GO:0050919;negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005623;cell;IEA	GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLIT1			https://www.ncbi.nlm.nih.gov/omim/?term=603742	http://www.informatics.jax.org/searchtool/Search.do?query=SLIT1&submit=Quick%0D%15783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT1	rs12049748	0.219449	0	0	1	0	0	intronic	intronic	intronic	SLIT1	SLIT1	ENSG00000187122,ENSG00000269891	Na	Na	Na	Na	Na	Na	Het;G>A	134;2|4	Hom;G>A	422;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	98909816	98909816	A	T	snp	intronic	 	 	 	 	SLIT1	Slit1	ENSG00000187122	slit guidance ligand 1	chr10:98757795-98945677		Alzheimer's disease ; Brain	Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology.	Netrin-1 signaling	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IDA|GO:0008045;motor neuron axon guidance;IMP|GO:0021772;olfactory bulb development;IEA|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0033563;dorsal/ventral axon guidance;IEA|GO:0040023;establishment of nucleus localization;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048846;axon extension involved in axon guidance;IDA|GO:0048853;forebrain morphogenesis;NAS|GO:0050919;negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005623;cell;IEA	GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLIT1			https://www.ncbi.nlm.nih.gov/omim/?term=603742	http://www.informatics.jax.org/searchtool/Search.do?query=SLIT1&submit=Quick%0D%15783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT1	Na	0	0	0	1	0	0	intronic	intronic	intronic	SLIT1	SLIT1	ENSG00000187122,ENSG00000269891	Na	Na	Na	Na	Na	Na	Het;A>T	253;5|11	Hom;A>T	178;0|7
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99116903	99116903	C	T	snp	nonsynonymous SNV	G3842A	R1281Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs1048445	0.283347	0.2363	0.2737	0.23	3	13	exonic	exonic	exonic	RRP12	RRP12	ENSG00000052749	nonsynonymous SNV	nonsynonymous SNV	unknown	RRP12:NM_015179:exon34:c.G3842A:p.R1281Q,RRP12:NM_001284337:exon31:c.G3542A:p.R1181Q,RRP12:NM_001145114:exon32:c.G3659A:p.R1220Q,	RRP12:uc009xvm.3:exon28:c.G2996A:p.R999Q,RRP12:uc009xvl.3:exon17:c.G1193A:p.R398Q,RRP12:uc001kne.3:exon9:c.G887A:p.R296Q,RRP12:uc009xvn.3:exon31:c.G3542A:p.R1181Q,RRP12:uc001knf.3:exon34:c.G3842A:p.R1281Q,RRP12:uc010qou.2:exon32:c.G3659A:p.R1220Q,	UNKNOWN	Het;C>T	1298;47|60	Hom;C>T	2536;0|96
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99118382	99118382	T	C	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs2297988	0.425519	0.3974	0.3439	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;T>C	863;54|41	Hom;T>C	2710;1|105
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99126249	99126249	G	A	snp	synonymous SNV	C2499T	D833D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs2275581	0.272963	0.2274	0.2608	1	0	0	exonic	exonic	exonic	RRP12	RRP12	ENSG00000052749	synonymous SNV	synonymous SNV	unknown	RRP12:NM_015179:exon28:c.C3345T:p.D1115D,RRP12:NM_001284337:exon25:c.C3045T:p.D1015D,RRP12:NM_001145114:exon26:c.C3162T:p.D1054D,	RRP12:uc009xvm.3:exon22:c.C2499T:p.D833D,RRP12:uc009xvl.3:exon11:c.C696T:p.D232D,RRP12:uc001kne.3:exon3:c.C390T:p.D130D,RRP12:uc009xvn.3:exon25:c.C3045T:p.D1015D,RRP12:uc001knf.3:exon28:c.C3345T:p.D1115D,RRP12:uc010qou.2:exon26:c.C3162T:p.D1054D,	UNKNOWN	Het;G>A	1559;77|79	Hom;G>A	4716;0|179
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99130127	99130127	A	G	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs3737194	0.465455	0	0	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;A>G	516;22|21	Hom;A>G	1010;0|31
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99132701	99132701	A	G	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs3818908	0.407149	0	0	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;A>G	152;9|7	Hom;A>G	677;0|20
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99139600	99139600	C	G	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs11189174	0.403355	0	0	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;C>G	1440;60|40	Hom;C>G	4211;0|96
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99139609	99139609	T	C	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs11189175	0.403355	0	0	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;T>C	1433;55|39	Hom;T>C	4136;0|94
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99140511	99140511	A	G	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs7078004	0.405551	0.3791	0.3426	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;A>G	1276;43|54	Hom;A>G	2572;0|97
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99141205	99141205	A	G	snp	synonymous SNV	T510C	A170A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs2275089	0.404752	0.3778	0.3431	1	0	0	exonic	exonic	exonic	RRP12	RRP12	ENSG00000052749	synonymous SNV	synonymous SNV	unknown	RRP12:NM_015179:exon12:c.T1356C:p.A452A,RRP12:NM_001284337:exon9:c.T1056C:p.A352A,RRP12:NM_001145114:exon10:c.T1173C:p.A391A,	RRP12:uc009xvm.3:exon6:c.T510C:p.A170A,RRP12:uc009xvn.3:exon9:c.T1056C:p.A352A,RRP12:uc001knf.3:exon12:c.T1356C:p.A452A,RRP12:uc010qou.2:exon10:c.T1173C:p.A391A,	UNKNOWN	Het;A>G	2070;88|99	Hom;A>G	3556;2|136
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99141484	99141484	C	T	snp	synonymous SNV	G462A	T154T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs12218483	0.26278	0.2184	0.2599	1	0	0	exonic	exonic	exonic	RRP12	RRP12	ENSG00000052749	synonymous SNV	synonymous SNV	unknown	RRP12:NM_015179:exon11:c.G1308A:p.T436T,RRP12:NM_001284337:exon8:c.G1008A:p.T336T,RRP12:NM_001145114:exon9:c.G1125A:p.T375T,	RRP12:uc009xvm.3:exon5:c.G462A:p.T154T,RRP12:uc009xvn.3:exon8:c.G1008A:p.T336T,RRP12:uc001knf.3:exon11:c.G1308A:p.T436T,RRP12:uc010qou.2:exon9:c.G1125A:p.T375T,	UNKNOWN	Het;C>T	642;45|33	Hom;C>T	2814;0|110
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99141663	99141663	C	T	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs11189177	0.404553	0	0	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;C>T	194;13|10	Hom;C>T	599;0|20
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99144832	99144868	CCCCCCACCTCGGCAGCCTGGACACAGGCCCTGAGCA	C	indel	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	Na	0	0	0	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;-CCCCCACCTCGGCAGCCTGGACACAGGCCCTGAGCA	648;24|18	Hom;-CCCCCACCTCGGCAGCCTGGACACAGGCCCTGAGCA	1570;0|36
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99147975	99147975	T	C	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs869967	0.405152	0.3757	0.3397	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;T>C	667;35|33	Hom;T>C	1533;0|52
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99148151	99148151	A	G	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs2275090	0.404153	0.3780	0.3398	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;A>G	980;53|45	Hom;A>G	2473;2|87
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99153540	99153540	T	G	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs7898743	0.502596	0.4594	0.4215	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;T>G	762;36|34	Hom;T>G	1210;0|44
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99155984	99155984	G	A	snp	synonymous SNV	C444T	F148F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs3814553	0.404153	0.3780	0.3393	1	0	0	exonic	exonic	exonic	RRP12	RRP12	ENSG00000052749	synonymous SNV	synonymous SNV	unknown	RRP12:NM_015179:exon3:c.C444T:p.F148F,RRP12:NM_001284337:exon3:c.C444T:p.F148F,RRP12:NM_001145114:exon3:c.C444T:p.F148F,	RRP12:uc009xvn.3:exon3:c.C444T:p.F148F,RRP12:uc001knf.3:exon3:c.C444T:p.F148F,RRP12:uc010qou.2:exon3:c.C444T:p.F148F,	UNKNOWN	Het;G>A	212;6|8	Hom;G>A	571;0|23
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99159963	99159963	C	G	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs9888117	0.400759	0	0	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;C>G	37;4|2	Hom;C>G	185;0|5
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99160046	99160046	C	T	snp	intronic	 	 	 	 	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs2297668	0.400759	0.3777	0.3380	1	0	0	intronic	intronic	intronic	RRP12	RRP12	ENSG00000052749	Na	Na	Na	Na	Na	Na	Het;C>T	397;19|19	Hom;C>T	1151;2|42
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99160152	99160152	A	G	snp	synonymous SNV	T279C	G93G	aliphatic,neutral	aliphatic,neutral	RRP12	Rrp12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12	rs1048442	0.400559	0.3777	0.3381	1	0	0	exonic	exonic	exonic	RRP12	RRP12	ENSG00000052749	synonymous SNV	synonymous SNV	unknown	RRP12:NM_015179:exon2:c.T279C:p.G93G,RRP12:NM_001284337:exon2:c.T279C:p.G93G,RRP12:NM_001145114:exon2:c.T279C:p.G93G,	RRP12:uc009xvn.3:exon2:c.T279C:p.G93G,RRP12:uc001knf.3:exon2:c.T279C:p.G93G,RRP12:uc010qou.2:exon2:c.T279C:p.G93G,	UNKNOWN	Het;A>G	1417;70|69	Hom;A>G	2981;2|107
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99205752	99205752	T	G	snp	unknown	 	 	 	 	EXOSC1	Exosc1	ENSG00000171311	exosome component 1	chr10:99195899-99205774	This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0000176;nuclear exosome (RNase complex);IBA|GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOSC1			https://www.ncbi.nlm.nih.gov/omim/?term=606493	http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC1&submit=Quick%0D%12899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC1	rs776394100	0	0	0.0001	1	0	0	UTR5	UTR5	exonic	EXOSC1(NM_016046:c.-10A>C)	EXOSC1(uc001kni.3:c.-10A>C)	ENSG00000171311	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>G	760;37|33	Hom;T>G	2152;0|75
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99215953	99215953	G	C	snp	intronic	 	 	 	 	ZDHHC16	Zdhhc16	ENSG00000171307	zinc finger DHHC-type containing 16	chr10:99205927-99217127		Alzheimer's disease 	Mice homozygous for a null mutation display prenatal and neonatal lethality with bradycardia, abnormal heart morphology and eye defects.		GO:0006915;apoptotic process;IEA|GO:0018345;protein palmitoylation;IDA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC16			https://www.ncbi.nlm.nih.gov/omim/?term=616750	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC16&submit=Quick%0D%12897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC16	rs3818909	0.529752	0	0	1	0	0	intronic	intronic	intronic	ZDHHC16	ZDHHC16	ENSG00000171307	Na	Na	Na	Na	Na	Na	Het;G>C	158;3|5	Hom;G>C	242;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99216432	99216432	C	T	snp	intronic	 	 	 	 	ZDHHC16	Zdhhc16	ENSG00000171307	zinc finger DHHC-type containing 16	chr10:99205927-99217127		Alzheimer's disease 	Mice homozygous for a null mutation display prenatal and neonatal lethality with bradycardia, abnormal heart morphology and eye defects.		GO:0006915;apoptotic process;IEA|GO:0018345;protein palmitoylation;IDA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC16			https://www.ncbi.nlm.nih.gov/omim/?term=616750	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC16&submit=Quick%0D%12897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC16	rs10882939	0.335064	0	0	1	0	0	intronic	intronic	intronic	ZDHHC16	ZDHHC16	ENSG00000171307	Na	Na	Na	Na	Na	Na	Het;C>T	136;1|5	Hom;C>T	354;0|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99219404	99219405	TG	T	indel	intronic	 	 	 	 	MMS19	Mms19	ENSG00000155229	MMS19 homolog, cytosolic iron-sulfur assembly component	chr10:99218081-99258551		Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; multiple sclerosis	 	Cytosolic iron-sulfur cluster assembly	GO:0000160;phosphorelay signal transduction system;NAS|GO:0006259;DNA metabolic process;IMP|GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007059;chromosome segregation;IEA|GO:0009725;response to hormone;NAS|GO:0016226;iron-sulfur cluster assembly;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005675;holo TFIIH complex;NAS|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0071817;MMXD complex;IDA|GO:0097361;CIA complex;IDA	GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0030331;estrogen receptor binding;IPI|GO:0030674;protein binding, bridging;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MMS19	https://www.uniprot.org/uniprot/Q96T76		https://www.ncbi.nlm.nih.gov/omim/?term=614777	http://www.informatics.jax.org/searchtool/Search.do?query=MMS19&submit=Quick%0D%9848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMS19	rs29001331	0.335264	0.2581	0.3241	1	0	0	intronic	intronic	intronic	MMS19	MMS19	ENSG00000155229	Na	Na	Na	Na	Na	Na	Het;-G	1780;46|52	Hom;-G	3481;0|87
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99219885	99219885	G	A	snp	synonymous SNV	C2574T	A858A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MMS19	Mms19	ENSG00000155229	MMS19 homolog, cytosolic iron-sulfur assembly component	chr10:99218081-99258551		Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; multiple sclerosis	 	Cytosolic iron-sulfur cluster assembly	GO:0000160;phosphorelay signal transduction system;NAS|GO:0006259;DNA metabolic process;IMP|GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007059;chromosome segregation;IEA|GO:0009725;response to hormone;NAS|GO:0016226;iron-sulfur cluster assembly;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005675;holo TFIIH complex;NAS|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0071817;MMXD complex;IDA|GO:0097361;CIA complex;IDA	GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0030331;estrogen receptor binding;IPI|GO:0030674;protein binding, bridging;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MMS19	https://www.uniprot.org/uniprot/Q96T76		https://www.ncbi.nlm.nih.gov/omim/?term=614777	http://www.informatics.jax.org/searchtool/Search.do?query=MMS19&submit=Quick%0D%9848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMS19	rs2152092	0.52516	0.5026	0.5370	1	0	0	exonic	exonic	exonic	MMS19	MMS19	ENSG00000155229	synonymous SNV	synonymous SNV	unknown	MMS19:NM_001289404:exon25:c.C2097T:p.A699A,MMS19:NM_001289403:exon25:c.C2445T:p.A815A,MMS19:NM_001289405:exon27:c.C2574T:p.A858A,MMS19:NM_022362:exon26:c.C2574T:p.A858A,	MMS19:uc001knt.3:exon27:c.C2574T:p.A858A,MMS19:uc001kns.4:exon26:c.C2574T:p.A858A,MMS19:uc010qox.3:exon25:c.C2445T:p.A815A,MMS19:uc001knr.3:exon25:c.C2097T:p.A699A,MMS19:uc009xvs.3:exon13:c.C1329T:p.A443A,MMS19:uc009xvt.3:exon23:c.C1806T:p.A602A,MMS19:uc001knq.3:exon4:c.C363T:p.A121A,	UNKNOWN	Het;G>A	1242;55|61	Hom;G>A	2318;0|88
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99221762	99221762	T	C	snp	intronic	 	 	 	 	MMS19	Mms19	ENSG00000155229	MMS19 homolog, cytosolic iron-sulfur assembly component	chr10:99218081-99258551		Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; multiple sclerosis	 	Cytosolic iron-sulfur cluster assembly	GO:0000160;phosphorelay signal transduction system;NAS|GO:0006259;DNA metabolic process;IMP|GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007059;chromosome segregation;IEA|GO:0009725;response to hormone;NAS|GO:0016226;iron-sulfur cluster assembly;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005675;holo TFIIH complex;NAS|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0071817;MMXD complex;IDA|GO:0097361;CIA complex;IDA	GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0030331;estrogen receptor binding;IPI|GO:0030674;protein binding, bridging;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MMS19	https://www.uniprot.org/uniprot/Q96T76		https://www.ncbi.nlm.nih.gov/omim/?term=614777	http://www.informatics.jax.org/searchtool/Search.do?query=MMS19&submit=Quick%0D%9848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMS19	rs559479019	0.0061901	0	0.0068	1	0	0	intronic	intronic	intronic	MMS19	MMS19	ENSG00000155229	Na	Na	Na	Na	Na	Na	Het;T>C	924;42|39	Hom;T>C	1600;0|54
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99229394	99229394	G	A	snp	intronic	 	 	 	 	MMS19	Mms19	ENSG00000155229	MMS19 homolog, cytosolic iron-sulfur assembly component	chr10:99218081-99258551		Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; multiple sclerosis	 	Cytosolic iron-sulfur cluster assembly	GO:0000160;phosphorelay signal transduction system;NAS|GO:0006259;DNA metabolic process;IMP|GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007059;chromosome segregation;IEA|GO:0009725;response to hormone;NAS|GO:0016226;iron-sulfur cluster assembly;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005675;holo TFIIH complex;NAS|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0071817;MMXD complex;IDA|GO:0097361;CIA complex;IDA	GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0030331;estrogen receptor binding;IPI|GO:0030674;protein binding, bridging;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MMS19	https://www.uniprot.org/uniprot/Q96T76		https://www.ncbi.nlm.nih.gov/omim/?term=614777	http://www.informatics.jax.org/searchtool/Search.do?query=MMS19&submit=Quick%0D%9848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMS19	rs2275583	0.324081	0.2457	0.2975	1	0	0	intronic	intronic	intronic	MMS19	MMS19	ENSG00000155229	Na	Na	Na	Na	Na	Na	Het;G>A	1122;67|57	Hom;G>A	2895;0|110
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99258223	99258223	T	G	snp	UTR5	-82A>C	 	 	 	MMS19	Mms19	ENSG00000155229	MMS19 homolog, cytosolic iron-sulfur assembly component	chr10:99218081-99258551		Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; multiple sclerosis	 	Cytosolic iron-sulfur cluster assembly	GO:0000160;phosphorelay signal transduction system;NAS|GO:0006259;DNA metabolic process;IMP|GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007059;chromosome segregation;IEA|GO:0009725;response to hormone;NAS|GO:0016226;iron-sulfur cluster assembly;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005675;holo TFIIH complex;NAS|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0071817;MMXD complex;IDA|GO:0097361;CIA complex;IDA	GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0030331;estrogen receptor binding;IPI|GO:0030674;protein binding, bridging;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MMS19	https://www.uniprot.org/uniprot/Q96T76		https://www.ncbi.nlm.nih.gov/omim/?term=614777	http://www.informatics.jax.org/searchtool/Search.do?query=MMS19&submit=Quick%0D%9848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMS19	rs3750558	0.523762	0.3876	0.5652	1	0	0	UTR5	UTR5	UTR5	MMS19(NM_022362:c.-82A>C,NM_001289403:c.-82A>C,NM_001289404:c.-21101A>C)	MMS19(uc001kns.4:c.-82A>C,uc010qox.3:c.-82A>C)	ENSG00000155229(ENST00000438925:c.-82A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	158;9|9	Hom;T>G	382;1|14
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99609368	99609368	A	G	snp	upstream	 	 	 	 	GOLGA7B	Golga7b	ENSG00000155265	golgin A7 family member B	chr10:99627889-99631294			 		GO:0006612;protein targeting to membrane;IBA|GO:0018230;peptidyl-L-cysteine S-palmitoylation;IBA|GO:0072659;protein localization to plasma membrane;IBA	GO:0000139;Golgi membrane;IEA|GO:0002178;palmitoyltransferase complex;IBA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA	GO:0019706;protein-cysteine S-palmitoyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/GOLGA7B	https://www.uniprot.org/uniprot/Q2TAP0		https://www.ncbi.nlm.nih.gov/omim/?term=614189	http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA7B&submit=Quick%0D%9853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA7B	rs61640241	0	0	0	1	0	0	ncRNA_intronic	upstream	ncRNA_intronic	LINC00866	GOLGA7B	ENSG00000227356	Na	Na	Na	Na	Na	Na	Het;A>G	166;7|7	Hom;A>G	200;0|6
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99609617	99609618	TG	T	indel	upstream	 	 	 	 	GOLGA7B	Golga7b	ENSG00000155265	golgin A7 family member B	chr10:99627889-99631294			 		GO:0006612;protein targeting to membrane;IBA|GO:0018230;peptidyl-L-cysteine S-palmitoylation;IBA|GO:0072659;protein localization to plasma membrane;IBA	GO:0000139;Golgi membrane;IEA|GO:0002178;palmitoyltransferase complex;IBA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA	GO:0019706;protein-cysteine S-palmitoyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/GOLGA7B	https://www.uniprot.org/uniprot/Q2TAP0		https://www.ncbi.nlm.nih.gov/omim/?term=614189	http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA7B&submit=Quick%0D%9853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA7B	Na	0	0	0	1	0	0	upstream	upstream	upstream	GOLGA7B,LINC00866	GOLGA7B	ENSG00000155265,ENSG00000227356	Na	Na	Na	Na	Na	Na	Het;-G	104;3|4	Hom;-G	286;0|8
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99639573	99639573	C	T	snp	intronic	 	 	 	 	CRTAC1	Crtac1	ENSG00000095713	cartilage acidic protein 1	chr10:99624757-99790585	This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder; Arteries; Diabetes Mellitus, Type 2; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation.		GO:0007413;axonal fasciculation;IEA|GO:0021772;olfactory bulb development;IEA|GO:1900121;negative regulation of receptor binding;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030426;growth cone;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRTAC1	https://www.uniprot.org/uniprot/Q9NQ79		https://www.ncbi.nlm.nih.gov/omim/?term=606276	http://www.informatics.jax.org/searchtool/Search.do?query=CRTAC1&submit=Quick%0D%2257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRTAC1	rs2297934	0.166933	0	0.1311	1	0	0	intronic	intronic	intronic	CRTAC1	CRTAC1	ENSG00000095713	Na	Na	Na	Na	Na	Na	Het;C>T	440;12|22	Hom;C>T	1059;0|39
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99655648	99655648	G	T	snp	synonymous SNV	C1311A	G437G	aliphatic,neutral	aliphatic,neutral	CRTAC1	Crtac1	ENSG00000095713	cartilage acidic protein 1	chr10:99624757-99790585	This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder; Arteries; Diabetes Mellitus, Type 2; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation.		GO:0007413;axonal fasciculation;IEA|GO:0021772;olfactory bulb development;IEA|GO:1900121;negative regulation of receptor binding;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030426;growth cone;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRTAC1	https://www.uniprot.org/uniprot/Q9NQ79		https://www.ncbi.nlm.nih.gov/omim/?term=606276	http://www.informatics.jax.org/searchtool/Search.do?query=CRTAC1&submit=Quick%0D%2257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRTAC1	rs577537	0.0339457	0.0571	0.0504	1	0	0	exonic	exonic	exonic	CRTAC1	CRTAC1	ENSG00000095713	synonymous SNV	synonymous SNV	unknown	CRTAC1:NM_001206528:exon10:c.C1311A:p.G437G,CRTAC1:NM_018058:exon10:c.C1311A:p.G437G,	CRTAC1:uc001kov.3:exon10:c.C1311A:p.G437G,CRTAC1:uc001kot.2:exon8:c.C681A:p.G227G,CRTAC1:uc001kou.2:exon10:c.C1311A:p.G437G,	UNKNOWN	Het;G>T	1129;83|58	Hom;G>T	3951;0|149
N	N	-	10	9987533	9987533	A	AT	indel	intergenic	 	 	 	 	AL157401.1																		rs202230312	0.250998	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928272(dist=649977),LOC101928298(dist=113152)	HV745905(dist=563164),BC032914(dist=113152)	ENSG00000228636(dist=186333),ENSG00000224788(dist=113152)	Na	Na	Na	Na	Na	Na	Het;+T	108;6|7	Hom;+T	186;1|10
10_101.305_148.305	Chr10:78740262-120743937	1.191	10	99969568	99969568	A	G	snp	nonsynonymous SNV	A1697G	H566R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	R3HCC1L	R3hcc1l	ENSG00000166024	R3H domain and coiled-coil containing 1 like	chr10:99894387-100004654		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0035145;exon-exon junction complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/R3HCC1L				http://www.informatics.jax.org/searchtool/Search.do?query=R3HCC1L&submit=Quick%0D%11680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=R3HCC1L	rs11189513	0.288538	0.2422	0.3222	0.08	1	13	exonic	exonic	exonic	R3HCC1L	R3HCC1L	ENSG00000166024	nonsynonymous SNV	nonsynonymous SNV	unknown	R3HCC1L:NM_001256619:exon5:c.A1697G:p.H566R,R3HCC1L:NM_014472:exon4:c.A1697G:p.H566R,R3HCC1L:NM_001256620:exon4:c.A1697G:p.H566R,R3HCC1L:NM_138469:exon5:c.A1697G:p.H566R,	R3HCC1L:uc001koy.4:exon5:c.A1697G:p.H566R,R3HCC1L:uc001kox.4:exon5:c.A1697G:p.H566R,R3HCC1L:uc009xvx.3:exon4:c.A1697G:p.H566R,R3HCC1L:uc001kow.4:exon4:c.A1697G:p.H566R,	UNKNOWN	Het;A>G	2706;133|129	Hom;A>G	7059;0|255
N	N	-	11	100168289	100168289	C	T	snp	intronic	 	 	 	 	CNTN5	Cntn5	ENSG00000149972	contactin 5	chr11:98891683-100229616	The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Carotid Stenosis; Frontal Lobe; Volumetric brain MRI; Lipoproteins; Fibrinogen; Blood Coagulation Factors; Alzheimer's disease; Heart Rate; Stroke; Hip; Brain; CD40 Ligand; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Body Height; Calcium; Heart Failure; longevity; Atrial Fibrillation; Psychiatric Disorders; Myocardial Infarction; Atrial fibrillation; Tunica Media; Platelet Aggregation	Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN5	https://www.uniprot.org/uniprot/O94779		https://www.ncbi.nlm.nih.gov/omim/?term=607219	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN5&submit=Quick%0D%9297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN5	rs1944178	0.903954	0	0	1	0	0	intronic	intronic	intronic	CNTN5	CNTN5	ENSG00000149972	Na	Na	Na	Na	Na	Na	Het;C>T	587;22|21	Hom;C>T	873;0|31
N	N	-	11	100168320	100168320	T	TC	indel	intronic	 	 	 	 	CNTN5	Cntn5	ENSG00000149972	contactin 5	chr11:98891683-100229616	The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Carotid Stenosis; Frontal Lobe; Volumetric brain MRI; Lipoproteins; Fibrinogen; Blood Coagulation Factors; Alzheimer's disease; Heart Rate; Stroke; Hip; Brain; CD40 Ligand; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Body Height; Calcium; Heart Failure; longevity; Atrial Fibrillation; Psychiatric Disorders; Myocardial Infarction; Atrial fibrillation; Tunica Media; Platelet Aggregation	Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN5	https://www.uniprot.org/uniprot/O94779		https://www.ncbi.nlm.nih.gov/omim/?term=607219	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN5&submit=Quick%0D%9297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN5	rs75986029	0.872204	0.8504	0.9071	1	0	0	intronic	intronic	intronic	CNTN5	CNTN5	ENSG00000149972	Na	Na	Na	Na	Na	Na	Het;+C	1178;42|37	Hom;+C	2446;0|64
N	N	-	11	100169829	100169829	A	G	snp	intronic	 	 	 	 	CNTN5	Cntn5	ENSG00000149972	contactin 5	chr11:98891683-100229616	The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Carotid Stenosis; Frontal Lobe; Volumetric brain MRI; Lipoproteins; Fibrinogen; Blood Coagulation Factors; Alzheimer's disease; Heart Rate; Stroke; Hip; Brain; CD40 Ligand; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Body Height; Calcium; Heart Failure; longevity; Atrial Fibrillation; Psychiatric Disorders; Myocardial Infarction; Atrial fibrillation; Tunica Media; Platelet Aggregation	Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN5	https://www.uniprot.org/uniprot/O94779		https://www.ncbi.nlm.nih.gov/omim/?term=607219	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN5&submit=Quick%0D%9297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN5	rs1944180	0.655551	0	0	1	0	0	intronic	intronic	intronic	CNTN5	CNTN5	ENSG00000149972	Na	Na	Na	Na	Na	Na	Het;A>G	342;8|12	Hom;A>G	574;0|15
N	N	-	11	100427074	100427079	CTTTGT	C	indel	intergenic	 	 	 	 	CNTN5	Cntn5	ENSG00000149972	contactin 5	chr11:98891683-100229616	The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Carotid Stenosis; Frontal Lobe; Volumetric brain MRI; Lipoproteins; Fibrinogen; Blood Coagulation Factors; Alzheimer's disease; Heart Rate; Stroke; Hip; Brain; CD40 Ligand; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Body Height; Calcium; Heart Failure; longevity; Atrial Fibrillation; Psychiatric Disorders; Myocardial Infarction; Atrial fibrillation; Tunica Media; Platelet Aggregation	Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN5	https://www.uniprot.org/uniprot/O94779		https://www.ncbi.nlm.nih.gov/omim/?term=607219	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN5&submit=Quick%0D%9297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN5	rs146786300	0.461062	0	0	1	0	0	intergenic	intergenic	intergenic	CNTN5(dist=197458),ARHGAP42(dist=131328)	CNTN5(dist=197458),Metazoa_SRP(dist=85627)	ENSG00000149972(dist=197458),ENSG00000242165(dist=85630)	Na	Na	Na	Na	Na	Na	Het;-TTTGT	680;13|18	Hom;-TTTGT	2135;0|50
N	N	-	11	100555114	100555114	A	G	snp	ncRNA_exonic	 	 	 	 	AP001351.1																		rs4312035	0.308107	0	0	1	0	0	intergenic	UTR3	ncRNA_exonic	CNTN5(dist=325498),ARHGAP42(dist=3293)	AK124326(uc010rul.2:c.*1280T>C)	ENSG00000248027	Na	Na	Na	Na	Na	Na	Het;A>G	1338;41|53	Hom;A>G	2941;5|105
N	N	-	11	100804088	100804088	A	G	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs626529	0.770567	0	0	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;A>G	283;8|14	Hom;A>G	655;0|23
N	N	-	11	100812342	100812354	CACTCTACCCTAT	C	indel	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs370937549	0	0	0	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;-ACTCTACCCTAT	32;5|2	Hom;-ACTCTACCCTAT	135;0|4
N	N	-	11	100812751	100812751	T	C	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs693760	0.915935	0	0	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;T>C	76;2|3	Hom;T>C	173;0|5
N	N	-	11	100814409	100814409	G	A	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs619066	0.915535	0	0	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;G>A	649;30|31	Hom;G>A	1693;0|63
N	N	-	11	100814609	100814609	G	T	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs618155	0.915535	0.8703	0.8826	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;G>T	867;21|41	Hom;G>T	1817;0|64
N	N	-	11	100819305	100819305	T	C	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs633967	0.915535	0.8714	0.8829	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;T>C	769;18|37	Hom;T>C	2010;0|78
N	N	-	11	100819392	100819392	A	G	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs504081	0.904153	0	0	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;A>G	210;6|9	Hom;A>G	476;0|18
N	N	-	11	100819430	100819430	A	G	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs482050	0.915535	0	0	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;A>G	62;4|3	Hom;A>G	282;0|7
N	N	-	11	100820725	100820725	A	T	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs694556	0.915535	0	0.8835	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;A>T	577;23|28	Hom;A>T	745;0|28
N	N	-	11	100830693	100830693	T	C	snp	intronic	 	 	 	 	ARHGAP42	Arhgap42	ENSG00000165895	Rho GTPase activating protein 42	chr11:100558384-100862668		Blood Pressure; Hypertension; Glucose; Coronary Artery Disease	Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.	Rho GTPase cycle	GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1904694;negative regulation of vascular smooth muscle contraction;IEA		GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP42			https://www.ncbi.nlm.nih.gov/omim/?term=615936	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP42&submit=Quick%0D%11648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP42	rs563460	0.827476	0.8423	0.8399	1	0	0	intronic	intronic	intronic	ARHGAP42	ARHGAP42	ENSG00000165895	Na	Na	Na	Na	Na	Na	Het;T>C	360;54|22	Hom;T>C	2298;2|85
N	N	-	11	100912561	100912561	C	A	snp	intronic	 	 	 	 	PGR	Pgr	ENSG00000082175	progesterone receptor	chr11:100900355-101001255	This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]	Lymphoma, Non-Hodgkin; esophageal adenocarcinoma; Migraine Disorders; Infertility, Female; ovarian cancer ; patent ductus arteriosus; chronic obstructive pulmonary disease; breast cancer; overall effect; Venous Thromboembolism; bladder cancer; Ovarian carcinoma; osteoporosis; endometriosis.; Leiomyoma|Uterine Neoplasms; Erectile Dysfunction; abdominal aortic aneurysm; Endometriosis|; Infection|Inflammation|Premature Birth; Endometrial Neoplasms; endometrial cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; breast cancer ; Tobacco Use Disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Abortion, Habitual|Infertility, Female; hormone disturbance; preterm birth; Endometrial Neoplasms|; mammographic density; panic disorder; pregnancy loss; infertility, female; Endometrial Neoplasms|ovarian neoplasm|Ovarian Neoplasms; obesity, localized; rheumatoid arthritis; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; null; breast cancer|prostate cancer; Hematocrit; cholesterol; cholesterol, LDL; Premature Birth; Abortion, Habitual; Type 2 Diabetes| edema | rosiglitazone; Endometriosis|Uterine Diseases; Inflammation|Premature Birth; lung cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Chronic renal failure|Kidney Failure, Chronic; ovarian and breast cancer; decreased risk for breast cancer by age 50; lung cancer ; endometrioid and clear cell ovarian cancer; pregnancy loss, recurrent; prostate cancer; vertigo, migraine-associated; endometrial cancer risk.; breast cancer; ovarian cancer; endometriosis; epithelial ovarian cancer ; migraine; Hypertension, Pregnancy-Induced|Proteinuria; colorectal cancer; ovarian cancer; Uterine Prolapse; uterine fibroids; hyperprolactinemia	Null female mice are sterile and exhibit ovulatory defects, uterine hyperplasia, and impaired mammary development. Females lacking only isoform A are infertile but show normal mammary development, while females lacking only isoform B are fertile but present with mammary developmental defects.	Nuclear Receptor transcription pathway	GO:0001542;ovulation from ovarian follicle;IEA|GO:0002070;epithelial cell maturation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0010629;negative regulation of gene expression;IEP|GO:0030879;mammary gland development;IEA|GO:0038001;paracrine signaling;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048286;lung alveolus development;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0060748;tertiary branching involved in mammary gland duct morphogenesis;IEA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0002070;epithelial cell maturation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0010629;negative regulation of gene expression;IEP|GO:0030879;mammary gland development;IEA|GO:0038001;paracrine signaling;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048286;lung alveolus development;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0060748;tertiary branching involved in mammary gland duct morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005496;steroid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008289;lipid binding;IEA|GO:0019899;enzyme binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PGR	https://www.uniprot.org/uniprot/P06401	https://hpo.jax.org/app/browse/search?q=PGR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607311	http://www.informatics.jax.org/searchtool/Search.do?query=PGR&submit=Quick%0D%80ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PGR	rs572698	0.260982	0	0	1	0	0	intronic	intronic	intronic	PGR	PGR	ENSG00000082175	Na	Na	Na	Na	Na	Na	Het;C>A	74;1|3	Hom;C>A	91;0|4
N	N	-	11	1010649	1010649	C	T	snp	unknown	 	 	 	 	AP2A2	Ap2a2	ENSG00000281385	adaptor related protein complex 2 alpha 2 subunit	chr11:924894-1012239			 		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030131;clathrin adaptor complex;IEA	GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AP2A2			https://www.ncbi.nlm.nih.gov/omim/?term=607242	http://www.informatics.jax.org/searchtool/Search.do?query=AP2A2&submit=Quick%0D%22298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP2A2	rs72842410	0.166733	0.0953	0.2308	0.11	1	9	UTR3	UTR3	exonic	AP2A2(NM_012305:c.*24C>T,NM_001242837:c.*24C>T)	AP2A2(uc001lst.2:c.*24C>T,uc001lss.3:c.*24C>T)	ENSG00000183020	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	2337;112|110	Hom;C>T	4335;0|159
N	N	-	11	101375750	101375750	T	G	snp	intronic	 	 	 	 	TRPC6	Trpc6	ENSG00000137672	transient receptor potential cation channel subfamily C member 6	chr11:101322295-101743293	The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]	Infantile hypertrophic pyloric stenosis; Hepatopulmonary Syndrome|Liver Cirrhosis; Body Height; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; Erythrocytes; Peroxidase; Glomerulosclerosis, Focal Segmental; Alkaline Phosphatase; Insulin; Hypertension	Mice homozygous for one null targeted mutation are viable and fertile and exhibit no overt abnormal phenotype. Another knockout results in an increase in thermal nociceptive response latency.	Role of second messengers in netrin-1 signaling	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;TAS|GO:0006816;calcium ion transport;IEA|GO:0006828;manganese ion transport;IBA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007338;single fertilization;IBA|GO:0007568;aging;IEA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0030182;neuron differentiation;IEA|GO:0032414;positive regulation of ion transmembrane transporter activity;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IBA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055085;transmembrane transport;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071456;cellular response to hypoxia;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0036057;slit diaphragm;IEA	GO:0003779;actin binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;IEA|GO:0030276;clathrin binding;IEA|GO:0042805;actinin binding;IEA|GO:0051117;ATPase binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRPC6	https://www.uniprot.org/uniprot/Q9Y210	https://hpo.jax.org/app/browse/search?q=TRPC6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603652	http://www.informatics.jax.org/searchtool/Search.do?query=TRPC6&submit=Quick%0D%7574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC6	rs4262694	0.596845	0	0	1	0	0	intronic	intronic	intronic	TRPC6	TRPC6	ENSG00000137672	Na	Na	Na	Na	Na	Na	Het;T>G	38;3|2	Hom;T>G	173;0|5
N	N	-	11	101464892	101464892	C	T	snp	ncRNA_exonic	 	 	 	 	AP003080.1																		rs2508246	0.839058	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TRPC6(dist=10233),ANGPTL5(dist=296513)	TRPC6(dist=10233),ANGPTL5(dist=296513)	ENSG00000254506	Na	Na	Na	Na	Na	Na	Het;C>T	193;18|11	Hom;C>T	1749;0|46
N	N	-	11	101504590	101504590	G	A	snp	intergenic	 	 	 	 	NONE																		rs7116889	0.830272	0	0	1	0	0	intergenic	intergenic	intergenic	TRPC6(dist=49931),ANGPTL5(dist=256815)	TRPC6(dist=49931),ANGPTL5(dist=256815)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	136;4|5	Hom;G>A	574;0|16
N	N	-	11	10164365	10164365	C	G	snp	intronic	 	 	 	 	SBF2	Sbf2	ENSG00000133812	SET binding factor 2	chr11:9800214-10315754	This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Body Composition; Carotid Stenosis; Tobacco Use Disorder; lipid levels; Basophils	Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.	RAB GEFs exchange GTP for GDP on RABs	GO:0042552;myelination;NAS|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051262;protein tetramerization;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005774;vacuolar membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA|GO:0019902;phosphatase binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF2	https://www.uniprot.org/uniprot/Q86WG5	https://hpo.jax.org/app/browse/search?q=SBF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607697	http://www.informatics.jax.org/searchtool/Search.do?query=SBF2&submit=Quick%0D%6874ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF2	rs11042643	0.160942	0	0	1	0	0	intronic	intronic	intronic	SBF2	SBF2	ENSG00000133812	Na	Na	Na	Na	Na	Na	Het;C>G	50;2|3	Hom;C>G	141;0|4
N	N	-	11	10215497	10215497	A	G	snp	synonymous SNV	T93C	F31F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	SBF2	Sbf2	ENSG00000133812	SET binding factor 2	chr11:9800214-10315754	This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Body Composition; Carotid Stenosis; Tobacco Use Disorder; lipid levels; Basophils	Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.	RAB GEFs exchange GTP for GDP on RABs	GO:0042552;myelination;NAS|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051262;protein tetramerization;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005774;vacuolar membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA|GO:0019902;phosphatase binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF2	https://www.uniprot.org/uniprot/Q86WG5	https://hpo.jax.org/app/browse/search?q=SBF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607697	http://www.informatics.jax.org/searchtool/Search.do?query=SBF2&submit=Quick%0D%6874ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF2	rs200263159	0.00838658	0	0.0048	1	0	0	exonic	exonic	exonic	SBF2	SBF2	ENSG00000133812	synonymous SNV	synonymous SNV	unknown	SBF2:NM_030962:exon2:c.T93C:p.F31F,	SBF2:uc001mib.2:exon2:c.T93C:p.F31F,	UNKNOWN	Het;A>G	421;46|24	Hom;A>G	2753;1|107
N	N	-	11	10215598	10215598	C	T	snp	intronic	 	 	 	 	SBF2	Sbf2	ENSG00000133812	SET binding factor 2	chr11:9800214-10315754	This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Body Composition; Carotid Stenosis; Tobacco Use Disorder; lipid levels; Basophils	Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.	RAB GEFs exchange GTP for GDP on RABs	GO:0042552;myelination;NAS|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051262;protein tetramerization;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005774;vacuolar membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA|GO:0019902;phosphatase binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF2	https://www.uniprot.org/uniprot/Q86WG5	https://hpo.jax.org/app/browse/search?q=SBF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607697	http://www.informatics.jax.org/searchtool/Search.do?query=SBF2&submit=Quick%0D%6874ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF2	rs4910097	0.360423	0	0	1	0	0	intronic	intronic	intronic	SBF2	SBF2	ENSG00000133812	Na	Na	Na	Na	Na	Na	Het;C>T	75;10|4	Hom;C>T	843;0|27
N	N	-	11	102199608	102199609	TA	T	indel	intronic	 	 	 	 	BIRC3	Birc3	ENSG00000023445	baculoviral IAP repeat containing 3	chr11:102188215-102210134	This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]	lung cancer ; lung cancer; esophageal adenocarcinoma; bladder cancer; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; patent ductus arteriosus; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's	Mice homozygous for disruptions in this gene have a reduced susceptibility to endotoxic shock. Mice homozygous for a knock-in allele exhibit increased B cell survival and proliferation, lymph node hyperplasia, lymphocytic infiltrates in the lungs, and enlarged gut-associated lympoid tissue.	IKK complex recruitment mediated by RIP1	GO:0006915;apoptotic process;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007283;spermatogenesis;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0034121;regulation of toll-like receptor signaling pathway;TAS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0039535;regulation of RIG-I signaling pathway;TAS|GO:0042981;regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0045088;regulation of innate immune response;TAS|GO:0050727;regulation of inflammatory response;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0060544;regulation of necroptotic process;TAS|GO:0060546;negative regulation of necroptotic process;IBA|GO:0070424;regulation of nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IBA|GO:2000116;regulation of cysteine-type endopeptidase activity;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;EXP|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BIRC3	https://www.uniprot.org/uniprot/Q13489	https://hpo.jax.org/app/browse/search?q=BIRC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601721	http://www.informatics.jax.org/searchtool/Search.do?query=BIRC3&submit=Quick%0D%684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC3	rs60157696	0.701877	0	0.0829	1	0	0	intronic	intronic	intronic	BIRC3	BIRC3	ENSG00000023445	Na	Na	Na	Na	Na	Na	Het;-A	1075;7|35	Hom;-A	999;5|30
N	N	-	11	102332498	102332499	GA	G	indel	ncRNA_exonic	 	 	 	 	AP001830.1																		rs398017352	0.804113	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TMEM123(dist=8723),MMP7(dist=58740)	TMEM123(dist=8723),MMP7(dist=58740)	ENSG00000255337	Na	Na	Na	Na	Na	Na	Het;-A	1231;52|59	Hom;-A	3784;0|142
N	N	-	11	1023682	1023682	G	A	snp	intronic	 	 	 	 	MUC6	Muc6	ENSG00000283350	mucin 6, oligomeric mucus/gel-forming	chr11:1012821-1036706	The MUC6 gene encodes gastric mucin, a secreted glycoprotein that plays an essential role in epithelial cytoprotection from acid, proteases, pathogenic microorganisms, and mechanical trauma in the gastrointestinal tract (summary by Toribara et al., 1993 [PubMed 7680650]).[supplied by OMIM, Dec 2010]	Alcoholism; H. pylori infection; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Stomach Neoplasms; Meningeal Neoplasms|meningioma; breast cancer 	 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0030277;maintenance of gastrointestinal epithelium;NAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS	GO:0005201;extracellular matrix structural constituent;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MUC6			https://www.ncbi.nlm.nih.gov/omim/?term=158374	http://www.informatics.jax.org/searchtool/Search.do?query=MUC6&submit=Quick%0D%22724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC6	rs72842416	0.18131	0.1137	0.1628	1	0	0	intronic	intronic	intronic	MUC6	MUC6	ENSG00000184956	Na	Na	Na	Na	Na	Na	Het;G>A	720;35|35	Hom;G>A	2291;0|82
N	N	-	11	102464451	102464451	C	T	snp	intronic	 	 	 	 	MMP20	Mmp20	ENSG00000137674	matrix metallopeptidase 20	chr11:102447566-102496063	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]	kidney aging; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, VLDL	Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology.	Assembly of collagen fibrils and other multimeric structures	GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;IEA|GO:0030163;protein catabolic process;IEA|GO:0030574;collagen catabolic process;TAS|GO:0070173;regulation of enamel mineralization;TAS|GO:0097186;amelogenesis;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP20	https://www.uniprot.org/uniprot/O60882	https://hpo.jax.org/app/browse/search?q=MMP20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604629	http://www.informatics.jax.org/searchtool/Search.do?query=MMP20&submit=Quick%0D%7576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP20	rs1784440	0.517772	0	0	1	0	0	intronic	intronic	intronic	MMP20	MMP20	ENSG00000137674	Na	Na	Na	Na	Na	Na	Het;C>T	239;6|11	Hom;C>T	204;0|8
N	N	-	11	102477132	102477132	A	C	snp	intronic	 	 	 	 	MMP20	Mmp20	ENSG00000137674	matrix metallopeptidase 20	chr11:102447566-102496063	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]	kidney aging; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, VLDL	Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology.	Assembly of collagen fibrils and other multimeric structures	GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;IEA|GO:0030163;protein catabolic process;IEA|GO:0030574;collagen catabolic process;TAS|GO:0070173;regulation of enamel mineralization;TAS|GO:0097186;amelogenesis;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP20	https://www.uniprot.org/uniprot/O60882	https://hpo.jax.org/app/browse/search?q=MMP20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604629	http://www.informatics.jax.org/searchtool/Search.do?query=MMP20&submit=Quick%0D%7576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP20	rs1784425	0.432508	0	0	1	0	0	intronic	intronic	intronic	MMP20	MMP20	ENSG00000137674	Na	Na	Na	Na	Na	Na	Het;A>C	160;5|7	Hom;A>C	236;0|8
N	N	-	11	102477377	102477377	G	T	snp	nonsynonymous SNV	C842A	T281N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MMP20	Mmp20	ENSG00000137674	matrix metallopeptidase 20	chr11:102447566-102496063	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]	kidney aging; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, VLDL	Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology.	Assembly of collagen fibrils and other multimeric structures	GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;IEA|GO:0030163;protein catabolic process;IEA|GO:0030574;collagen catabolic process;TAS|GO:0070173;regulation of enamel mineralization;TAS|GO:0097186;amelogenesis;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP20	https://www.uniprot.org/uniprot/O60882	https://hpo.jax.org/app/browse/search?q=MMP20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604629	http://www.informatics.jax.org/searchtool/Search.do?query=MMP20&submit=Quick%0D%7576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP20	rs1784424	0.419928	0.4065	0.4517	0.08	1	13	exonic	exonic	exonic	MMP20	MMP20	ENSG00000137674	nonsynonymous SNV	nonsynonymous SNV	unknown	MMP20:NM_004771:exon6:c.C842A:p.T281N,	MMP20:uc001phc.3:exon6:c.C842A:p.T281N,	UNKNOWN	Het;G>T	850;34|42	Hom;G>T	2170;0|79
N	N	-	11	102477395	102477395	A	G	snp	nonsynonymous SNV	T824C	V275A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MMP20	Mmp20	ENSG00000137674	matrix metallopeptidase 20	chr11:102447566-102496063	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]	kidney aging; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, VLDL	Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology.	Assembly of collagen fibrils and other multimeric structures	GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;IEA|GO:0030163;protein catabolic process;IEA|GO:0030574;collagen catabolic process;TAS|GO:0070173;regulation of enamel mineralization;TAS|GO:0097186;amelogenesis;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP20	https://www.uniprot.org/uniprot/O60882	https://hpo.jax.org/app/browse/search?q=MMP20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604629	http://www.informatics.jax.org/searchtool/Search.do?query=MMP20&submit=Quick%0D%7576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP20	rs1784423	0.419928	0.4065	0.4519	0.15	2	13	exonic	exonic	exonic	MMP20	MMP20	ENSG00000137674	nonsynonymous SNV	nonsynonymous SNV	unknown	MMP20:NM_004771:exon6:c.T824C:p.V275A,	MMP20:uc001phc.3:exon6:c.T824C:p.V275A,	UNKNOWN	Het;A>G	613;30|26	Hom;A>G	1870;0|66
N	N	-	11	102482738	102482738	G	A	snp	ncRNA_intronic	 	 	 	 	AP000851.1																		rs1711416	0.422324	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MMP20	MMP20	ENSG00000256916	Na	Na	Na	Na	Na	Na	Het;G>A	461;18|21	Hom;G>A	837;0|29
N	N	-	11	102641382	102641382	G	A	snp	UTR3	*142C>T	 	 	 	MMP10	Mmp10	ENSG00000166670	matrix metallopeptidase 10	chr11:102641234-102651359	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; abdominal aortic aneurysm; Hepatitis C, Chronic|Liver Cirrhosis; Type 2 Diabetes| edema | rosiglitazone; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; esophageal adenocarcinoma; Coronary Artery Disease|Disease Susceptibility|Myocardial Infarction	Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection.	MAPK6/MAPK4 signaling	GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030334;regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP10			https://www.ncbi.nlm.nih.gov/omim/?term=185260	http://www.informatics.jax.org/searchtool/Search.do?query=MMP10&submit=Quick%0D%11842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP10	rs470168	0.247204	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MMP10(NM_002425:c.*142C>T)	MMP10(uc001phg.2:c.*142C>T)	ENSG00000255282	Na	Na	Na	Na	Na	Na	Het;G>A	141;6|6	Hom;G>A	641;0|20
N	N	-	11	102641452	102641452	G	C	snp	UTR3	*72C>G	 	 	 	MMP10	Mmp10	ENSG00000166670	matrix metallopeptidase 10	chr11:102641234-102651359	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; abdominal aortic aneurysm; Hepatitis C, Chronic|Liver Cirrhosis; Type 2 Diabetes| edema | rosiglitazone; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; esophageal adenocarcinoma; Coronary Artery Disease|Disease Susceptibility|Myocardial Infarction	Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection.	MAPK6/MAPK4 signaling	GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030334;regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP10			https://www.ncbi.nlm.nih.gov/omim/?term=185260	http://www.informatics.jax.org/searchtool/Search.do?query=MMP10&submit=Quick%0D%11842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP10	rs470171	0.247404	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MMP10(NM_002425:c.*72C>G)	MMP10(uc001phg.2:c.*72C>G)	ENSG00000255282	Na	Na	Na	Na	Na	Na	Het;G>C	625;31|29	Hom;G>C	2148;0|74
N	N	-	11	102649856	102649856	T	C	snp	ncRNA_intronic	 	 	 	 	WTAPP1																		rs470263	0.260184	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MMP10	MMP10	ENSG00000255282	Na	Na	Na	Na	Na	Na	Het;T>C	304;5|11	Hom;T>C	549;0|14
N	N	-	11	102668603	102668604	CA	C	indel	ncRNA_intronic	 	 	 	 	WTAPP1																		rs398017362	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	WTAPP1	WTAPP1	ENSG00000255282	Na	Na	Na	Na	Na	Na	Het;-A	46;1|5	Hom;-A	164;1|8
N	N	-	11	102824826	102824826	T	C	snp	intronic	 	 	 	 	MMP13	Mmp13	ENSG00000137745	matrix metallopeptidase 13	chr11:102813724-102826463	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]	Hepatitis C, Chronic|Liver Cirrhosis; breast cancer; atherosclerosis; Moyamoya Disease; breast cancer ; rheumatoid arthritis; nasopharyngeal cancer; null; Cleft Lip|Cleft Palate; Neoplasms, Glandular and Epithelial|ovarian neoplasm|Ovarian Neoplasms; Intervertebral Disk Displacement; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Carcinoma, Hepatocellular|Hepatitis B|Liver carcinoma|Liver neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; gastric cardia adenocarcinoma and esophageal squamous cell carcinoma; lung cancer ; esophageal cancer gastric cardiac cancer; abdominal aortic aneurysm; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Ovarian Neoplasms; Endometriosis; Alveolar Bone Loss|Chronic Periodontitis|Gingival Hemorrhage|Periodontal Attachment Loss; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes	Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone.	Assembly of collagen fibrils and other multimeric structures	GO:0001958;endochondral ossification;IEA|GO:0003417;growth plate cartilage development;IEA|GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030282;bone mineralization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0044267;cellular protein metabolic process;IEA|GO:0051216;cartilage development;IEA|GO:0060349;bone morphogenesis;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005518;collagen binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP13	https://www.uniprot.org/uniprot/P45452	https://hpo.jax.org/app/browse/search?q=MMP13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600108	http://www.informatics.jax.org/searchtool/Search.do?query=MMP13&submit=Quick%0D%7591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP13	rs478927	0.638379	0	0	1	0	0	intronic	intronic	intronic	MMP13	MMP13	ENSG00000137745	Na	Na	Na	Na	Na	Na	Het;T>C	277;18|13	Hom;T>C	663;1|23
N	N	-	11	102825091	102825091	T	G	snp	intronic	 	 	 	 	MMP13	Mmp13	ENSG00000137745	matrix metallopeptidase 13	chr11:102813724-102826463	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]	Hepatitis C, Chronic|Liver Cirrhosis; breast cancer; atherosclerosis; Moyamoya Disease; breast cancer ; rheumatoid arthritis; nasopharyngeal cancer; null; Cleft Lip|Cleft Palate; Neoplasms, Glandular and Epithelial|ovarian neoplasm|Ovarian Neoplasms; Intervertebral Disk Displacement; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Carcinoma, Hepatocellular|Hepatitis B|Liver carcinoma|Liver neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; gastric cardia adenocarcinoma and esophageal squamous cell carcinoma; lung cancer ; esophageal cancer gastric cardiac cancer; abdominal aortic aneurysm; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Ovarian Neoplasms; Endometriosis; Alveolar Bone Loss|Chronic Periodontitis|Gingival Hemorrhage|Periodontal Attachment Loss; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes	Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone.	Assembly of collagen fibrils and other multimeric structures	GO:0001958;endochondral ossification;IEA|GO:0003417;growth plate cartilage development;IEA|GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030282;bone mineralization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0044267;cellular protein metabolic process;IEA|GO:0051216;cartilage development;IEA|GO:0060349;bone morphogenesis;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005518;collagen binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP13	https://www.uniprot.org/uniprot/P45452	https://hpo.jax.org/app/browse/search?q=MMP13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600108	http://www.informatics.jax.org/searchtool/Search.do?query=MMP13&submit=Quick%0D%7591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP13	rs640198	0.636981	0	0	1	0	0	intronic	intronic	intronic	MMP13	MMP13	ENSG00000137745	Na	Na	Na	Na	Na	Na	Het;T>G	308;20|13	Hom;T>G	1693;0|52
N	N	-	11	102826539	102826539	C	T	snp	upstream	 	 	 	 	MMP13	Mmp13	ENSG00000137745	matrix metallopeptidase 13	chr11:102813724-102826463	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]	Hepatitis C, Chronic|Liver Cirrhosis; breast cancer; atherosclerosis; Moyamoya Disease; breast cancer ; rheumatoid arthritis; nasopharyngeal cancer; null; Cleft Lip|Cleft Palate; Neoplasms, Glandular and Epithelial|ovarian neoplasm|Ovarian Neoplasms; Intervertebral Disk Displacement; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Carcinoma, Hepatocellular|Hepatitis B|Liver carcinoma|Liver neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; gastric cardia adenocarcinoma and esophageal squamous cell carcinoma; lung cancer ; esophageal cancer gastric cardiac cancer; abdominal aortic aneurysm; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Ovarian Neoplasms; Endometriosis; Alveolar Bone Loss|Chronic Periodontitis|Gingival Hemorrhage|Periodontal Attachment Loss; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes	Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone.	Assembly of collagen fibrils and other multimeric structures	GO:0001958;endochondral ossification;IEA|GO:0003417;growth plate cartilage development;IEA|GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030282;bone mineralization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0044267;cellular protein metabolic process;IEA|GO:0051216;cartilage development;IEA|GO:0060349;bone morphogenesis;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005518;collagen binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP13	https://www.uniprot.org/uniprot/P45452	https://hpo.jax.org/app/browse/search?q=MMP13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600108	http://www.informatics.jax.org/searchtool/Search.do?query=MMP13&submit=Quick%0D%7591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP13	rs2252070	0.635982	0	0	1	0	0	upstream	upstream	upstream	MMP13	MMP13	ENSG00000137745	Na	Na	Na	Na	Na	Na	Het;C>T	61;2|3	Hom;C>T	89;0|4
N	N	-	11	102985018	102985018	A	G	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs2245404	0.316693	0.3256	0	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;A>G	496;24|23	Hom;A>G	1151;0|36
N	N	-	11	103027234	103027234	A	G	snp	nonsynonymous SNV	A3862G	T1288A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs17301750	0.076278	0.0877	0.1048	0.31	4	13	exonic	exonic	exonic	DYNC2H1	DYNC2H1	ENSG00000187240	nonsynonymous SNV	nonsynonymous SNV	unknown	DYNC2H1:NM_001080463:exon26:c.A3862G:p.T1288A,DYNC2H1:NM_001377:exon26:c.A3862G:p.T1288A,	DYNC2H1:uc001pho.2:exon26:c.A3862G:p.T1288A,DYNC2H1:uc001phn.1:exon26:c.A3862G:p.T1288A,	UNKNOWN	Het;A>G	2070;93|93	Hom;A>G	5709;0|211
N	N	-	11	103041040	103041040	A	C	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs12576037	0.0760783	0.0858	0.1549	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;A>C	509;13|21	Hom;A>C	972;0|34
N	N	-	11	103048249	103048249	T	C	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs61899764	0.0764776	0.0887	0.1161	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;T>C	482;11|20	Hom;T>C	933;0|29
N	N	-	11	103055490	103055490	T	C	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs17374415	0.0764776	0	0	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;T>C	68;5|3	Hom;T>C	619;0|18
N	N	-	11	103059091	103059091	A	G	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs601446	0.762181	0	0	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;A>G	130;1|5	Hom;A>G	171;0|6
N	N	-	11	103060671	103060671	A	C	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs12577323	0.076278	0	0	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;A>C	200;8|9	Hom;A>C	651;0|21
N	N	-	11	103104669	103104669	A	G	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs11823725	0.103435	0	0	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;A>G	184;5|7	Hom;A>G	482;0|13
N	N	-	11	103123938	103123938	A	G	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs11820029	0.103834	0	0	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;A>G	189;4|6	Hom;A>G	268;0|7
N	N	-	11	103123999	103123999	G	T	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs648387	0.429313	0.3875	0.3764	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;G>T	668;19|28	Hom;G>T	875;0|32
N	N	-	11	103124135	103124135	T	G	snp	synonymous SNV	T10164G	T3388T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs11225634	0.18111	0.1794	0.1317	1	0	0	exonic	exonic	exonic	DYNC2H1	DYNC2H1	ENSG00000187240	synonymous SNV	synonymous SNV	unknown	DYNC2H1:NM_001080463:exon67:c.T10185G:p.T3395T,DYNC2H1:NM_001377:exon66:c.T10164G:p.T3388T,	DYNC2H1:uc001pho.2:exon66:c.T10164G:p.T3388T,DYNC2H1:uc001phn.1:exon67:c.T10185G:p.T3395T,	UNKNOWN	Het;T>G	1021;62|50	Hom;T>G	2322;0|88
N	N	-	11	103325800	103325800	C	A	snp	intronic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs313875	0.559704	0	0	1	0	0	intronic	intronic	intronic	DYNC2H1	DYNC2H1	ENSG00000187240	Na	Na	Na	Na	Na	Na	Het;C>A	341;1|11	Hom;C>A	299;0|9
N	N	-	11	103383694	103383694	G	T	snp	intergenic	 	 	 	 	DYNC2H1	Dync2h1	ENSG00000187240	dynein cytoplasmic 2 heavy chain 1	chr11:102980160-103350591	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]	lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides	Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed.	Intraflagellar transport	GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1		https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603297	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1	rs10791622	0.579673	0	0	1	0	0	intergenic	intergenic	intergenic	DYNC2H1(dist=33103),MIR4693(dist=336940)	DYNC2H1(dist=33103),MIR4693(dist=336940)	ENSG00000187240(dist=33103),ENSG00000254987(dist=163028)	Na	Na	Na	Na	Na	Na	Het;G>T	616;13|30	Hom;G>T	1234;0|45
N	N	-	11	10416780	10416780	G	A	snp	ncRNA_intronic	 	 	 	 	EF537580																		rs10743137	0.594649	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	CAND1.11	EF537580	ENSG00000133805	Na	Na	Na	Na	Na	Na	Het;G>A	168;2|8	Hom;G>A	97;0|5
N	N	-	11	104323595	104323595	A	G	snp	ncRNA_intronic	 	 	 	 	AP003083.1																		rs1487712	0.825679	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR7641-1(dist=200216),LOC102723895(dist=115622)	PDGFD(dist=288568),CASP12(dist=432850)	ENSG00000256422	Na	Na	Na	Na	Na	Na	Het;A>G	188;1|6	Hom;A>G	116;0|4
N	N	-	11	104934390	104934390	G	A	snp	ncRNA_intronic	 	 	 	 	CASP1P2																		rs1785871	0.359425	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CARD16(dist=18339),CARD17(dist=28806)	CASP1(dist=18339),AB231723(dist=2498)	ENSG00000254750	Na	Na	Na	Na	Na	Na	Het;G>A	897;53|45	Hom;G>A	2781;0|101
N	N	-	11	104966792	104966792	T	C	snp	intronic	 	 	 	 	CARD17		ENSG00000255221	caspase recruitment domain family member 17	chr11:104963196-104972158					GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0042981;regulation of apoptotic process;IEA	GO:0005737;cytoplasm;IEA	GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CARD17			https://www.ncbi.nlm.nih.gov/omim/?term=609490	http://www.informatics.jax.org/searchtool/Search.do?query=CARD17&submit=Quick%0D%20116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD17	rs1792765	0.522963	0	0	1	0	0	intronic	intronic	intronic	CARD17	CARD17	ENSG00000137752,ENSG00000204397,ENSG00000255221	Na	Na	Na	Na	Na	Na	Het;T>C	237;20|13	Hom;T>C	1578;0|55
N	N	-	11	104971210	104971210	C	T	snp	intronic	 	 	 	 	CARD17		ENSG00000255221	caspase recruitment domain family member 17	chr11:104963196-104972158					GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0042981;regulation of apoptotic process;IEA	GO:0005737;cytoplasm;IEA	GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CARD17			https://www.ncbi.nlm.nih.gov/omim/?term=609490	http://www.informatics.jax.org/searchtool/Search.do?query=CARD17&submit=Quick%0D%20116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD17	rs1792771	0.521366	0.6226	0.6056	1	0	0	intronic	intronic	intronic	CARD17	CARD17	ENSG00000137752,ENSG00000204397,ENSG00000255221	Na	Na	Na	Na	Na	Na	Het;C>T	235;9|10	Hom;C>T	448;1|15
N	N	-	11	104971662	104971662	G	A	snp	intronic	 	 	 	 	CARD17		ENSG00000255221	caspase recruitment domain family member 17	chr11:104963196-104972158					GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0042981;regulation of apoptotic process;IEA	GO:0005737;cytoplasm;IEA	GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CARD17			https://www.ncbi.nlm.nih.gov/omim/?term=609490	http://www.informatics.jax.org/searchtool/Search.do?query=CARD17&submit=Quick%0D%20116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD17	rs1785873	0.386581	0	0	1	0	0	intronic	intronic	intronic	CARD17	CARD17	ENSG00000137752,ENSG00000204397,ENSG00000255221	Na	Na	Na	Na	Na	Na	Het;G>A	94;2|4	Hom;G>A	146;0|5
N	N	-	11	104972190	104972190	C	T	snp	upstream	 	 	 	 	CARD17		ENSG00000255221	caspase recruitment domain family member 17	chr11:104963196-104972158					GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0042981;regulation of apoptotic process;IEA	GO:0005737;cytoplasm;IEA	GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CARD17			https://www.ncbi.nlm.nih.gov/omim/?term=609490	http://www.informatics.jax.org/searchtool/Search.do?query=CARD17&submit=Quick%0D%20116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD17	rs1792773	0.563698	0.6577	0.6107	1	0	0	upstream	upstream	upstream	CARD17	CARD17	ENSG00000137752,ENSG00000204397,ENSG00000255221	Na	Na	Na	Na	Na	Na	Het;C>T	1187;59|60	Hom;C>T	2247;2|92
N	N	-	11	10521764	10521764	T	C	snp	synonymous SNV	T1212C	Y404Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	AMPD3	Ampd3	ENSG00000133805	adenosine monophosphate deaminase 3	chr11:10329860-10529126	This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion.	Purine salvage	GO:0006188;IMP biosynthetic process;IEA|GO:0006196;AMP catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;IEA|GO:0032264;IMP salvage;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046031;ADP metabolic process;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046039;GTP metabolic process;IEA|GO:0097009;energy homeostasis;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003876;AMP deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AMPD3	https://www.uniprot.org/uniprot/Q01432	https://hpo.jax.org/app/browse/search?q=AMPD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102772	http://www.informatics.jax.org/searchtool/Search.do?query=AMPD3&submit=Quick%0D%6872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPD3	rs3741041	0.367412	0.3145	0.4084	1	0	0	exonic	exonic	exonic	AMPD3	AMPD3	ENSG00000133805	synonymous SNV	synonymous SNV	unknown	AMPD3:NM_000480:exon11:c.T1716C:p.Y572Y,AMPD3:NM_001025390:exon11:c.T1710C:p.Y570Y,AMPD3:NM_001172430:exon11:c.T1689C:p.Y563Y,AMPD3:NM_001172431:exon10:c.T1212C:p.Y404Y,AMPD3:NM_001025389:exon11:c.T1689C:p.Y563Y,	AMPD3:uc010rbz.1:exon10:c.T1212C:p.Y404Y,AMPD3:uc009yfy.2:exon11:c.T1689C:p.Y563Y,AMPD3:uc001mip.1:exon11:c.T1710C:p.Y570Y,AMPD3:uc001min.1:exon11:c.T1716C:p.Y572Y,AMPD3:uc001mio.1:exon11:c.T1689C:p.Y563Y,	UNKNOWN	Het;T>C	1886;95|93	Hom;T>C	4186;1|157
N	N	-	11	10521850	10521850	G	A	snp	intronic	 	 	 	 	AMPD3	Ampd3	ENSG00000133805	adenosine monophosphate deaminase 3	chr11:10329860-10529126	This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion.	Purine salvage	GO:0006188;IMP biosynthetic process;IEA|GO:0006196;AMP catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;IEA|GO:0032264;IMP salvage;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046031;ADP metabolic process;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046039;GTP metabolic process;IEA|GO:0097009;energy homeostasis;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003876;AMP deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AMPD3	https://www.uniprot.org/uniprot/Q01432	https://hpo.jax.org/app/browse/search?q=AMPD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102772	http://www.informatics.jax.org/searchtool/Search.do?query=AMPD3&submit=Quick%0D%6872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPD3	rs3741039	0.494409	0	0	1	0	0	intronic	intronic	intronic	AMPD3	AMPD3	ENSG00000133805	Na	Na	Na	Na	Na	Na	Het;G>A	572;24|27	Hom;G>A	1328;1|49
N	N	-	11	10522983	10522983	G	T	snp	intronic	 	 	 	 	AMPD3	Ampd3	ENSG00000133805	adenosine monophosphate deaminase 3	chr11:10329860-10529126	This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion.	Purine salvage	GO:0006188;IMP biosynthetic process;IEA|GO:0006196;AMP catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;IEA|GO:0032264;IMP salvage;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046031;ADP metabolic process;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046039;GTP metabolic process;IEA|GO:0097009;energy homeostasis;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003876;AMP deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AMPD3	https://www.uniprot.org/uniprot/Q01432	https://hpo.jax.org/app/browse/search?q=AMPD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102772	http://www.informatics.jax.org/searchtool/Search.do?query=AMPD3&submit=Quick%0D%6872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPD3	rs1870951	0.475439	0.4293	0.5111	1	0	0	intronic	intronic	intronic	AMPD3	AMPD3	ENSG00000133805	Na	Na	Na	Na	Na	Na	Het;G>T	273;1|12	Hom;G>T	324;0|13
N	N	-	11	10536724	10536724	T	C	snp	intronic	 	 	 	 	RNF141	Rnf141	ENSG00000110315	ring finger protein 141	chr11:10533225-10562777	The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]	Apolipoproteins C	Mice homozygous for a targeted allele exhibit decreased litter size but normal spermatogeness and testes weight.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0051865;protein autoubiquitination;IDA	GO:0016020;membrane;IEA	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF141	https://www.uniprot.org/uniprot/Q8WVD5		https://www.ncbi.nlm.nih.gov/omim/?term=616641	http://www.informatics.jax.org/searchtool/Search.do?query=RNF141&submit=Quick%0D%3946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF141	rs6484344	0.472244	0	0	1	0	0	intronic	intronic	intronic	RNF141	RNF141	ENSG00000110315	Na	Na	Na	Na	Na	Na	Het;T>C	168;4|8	Hom;T>C	538;0|15
N	N	-	11	10555589	10555589	A	G	snp	synonymous SNV	T117C	L39L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RNF141	Rnf141	ENSG00000110315	ring finger protein 141	chr11:10533225-10562777	The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]	Apolipoproteins C	Mice homozygous for a targeted allele exhibit decreased litter size but normal spermatogeness and testes weight.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0051865;protein autoubiquitination;IDA	GO:0016020;membrane;IEA	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF141	https://www.uniprot.org/uniprot/Q8WVD5		https://www.ncbi.nlm.nih.gov/omim/?term=616641	http://www.informatics.jax.org/searchtool/Search.do?query=RNF141&submit=Quick%0D%3946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF141	rs1065052	0.356629	0.3079	0.4050	1	0	0	exonic	exonic	exonic	RNF141	RNF141	ENSG00000110315	synonymous SNV	synonymous SNV	unknown	RNF141:NM_016422:exon2:c.T117C:p.L39L,	RNF141:uc001mis.1:exon2:c.T117C:p.L39L,	UNKNOWN	Het;A>G	1217;75|63	Hom;A>G	3591;0|136
N	N	-	11	105774533	105774533	T	C	snp	intronic	 	 	 	 	GRIA4	Gria4	ENSG00000152578	glutamate ionotropic receptor AMPA type subunit 4	chr11:105480721-105852819	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]	several psychiatric disorders; Schizophrenia; Albumins; iloperidone; Weight Gain; Diabetic Nephropathies; schizophrenia	Mice homozygous for a targeted mutation display hyperactivity, decreased thermal nociception, and abnormal sensitivity to pharmacologically induced seizures.	Synaptic adhesion-like molecules	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0060079;excitatory postsynaptic potential;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1903561;extracellular vesicle;IDA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;ISS|GO:0004971;AMPA glutamate receptor activity;IDA|GO:0005216;ion channel activity;IEA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;TAS|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRIA4	https://www.uniprot.org/uniprot/P48058	https://hpo.jax.org/app/browse/search?q=GRIA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138246	http://www.informatics.jax.org/searchtool/Search.do?query=GRIA4&submit=Quick%0D%9566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIA4	rs61751525	0.0351438	0.0601	0.0696	1	0	0	intronic	intronic	intronic	GRIA4	GRIA4	ENSG00000152578	Na	Na	Na	Na	Na	Na	Het;T>C	619;21|21	Hom;T>C	1837;0|59
N	N	-	11	105789750	105789750	A	T	snp	intronic	 	 	 	 	GRIA4	Gria4	ENSG00000152578	glutamate ionotropic receptor AMPA type subunit 4	chr11:105480721-105852819	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]	several psychiatric disorders; Schizophrenia; Albumins; iloperidone; Weight Gain; Diabetic Nephropathies; schizophrenia	Mice homozygous for a targeted mutation display hyperactivity, decreased thermal nociception, and abnormal sensitivity to pharmacologically induced seizures.	Synaptic adhesion-like molecules	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0060079;excitatory postsynaptic potential;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1903561;extracellular vesicle;IDA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;ISS|GO:0004971;AMPA glutamate receptor activity;IDA|GO:0005216;ion channel activity;IEA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;TAS|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRIA4	https://www.uniprot.org/uniprot/P48058	https://hpo.jax.org/app/browse/search?q=GRIA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138246	http://www.informatics.jax.org/searchtool/Search.do?query=GRIA4&submit=Quick%0D%9566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIA4	rs674307	0.175919	0	0	1	0	0	intronic	intronic	intronic	GRIA4	GRIA4	ENSG00000152578	Na	Na	Na	Na	Na	Na	Het;A>T	340;18|13	Hom;A>T	1260;0|40
N	N	-	11	10603648	10603648	A	G	snp	ncRNA_intronic	 	 	 	 	MRVI1-AS1																		rs2288236	0.353834	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	MRVI1-AS1	MRVI1-AS1	ENSG00000177112	Na	Na	Na	Na	Na	Na	Het;A>G	219;8|9	Hom;A>G	695;0|27
N	N	-	11	107420530	107420530	A	G	snp	synonymous SNV	T720C	D240D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ALKBH8	Alkbh8	ENSG00000137760	alkB homolog 8, tRNA methyltransferase	chr11:107373452-107436472		HIV Infections|[X]Human immunodeficiency virus disease	Homozygous mutants show no obvious phenotype at 20 months of age.	tRNA modification in the nucleus and cytosol	GO:0002098;tRNA wobble uridine modification;IDA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008152;metabolic process;IEA|GO:0030488;tRNA methylation;IDA|GO:0032259;methylation;IEA|GO:0055114;oxidation-reduction process;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0000049;tRNA binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005506;iron ion binding;ISS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008198;ferrous iron binding;IBA|GO:0008270;zinc ion binding;IDA|GO:0016300;tRNA (uracil) methyltransferase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;IDA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALKBH8	https://www.uniprot.org/uniprot/Q96BT7		https://www.ncbi.nlm.nih.gov/omim/?term=613306	http://www.informatics.jax.org/searchtool/Search.do?query=ALKBH8&submit=Quick%0D%7595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALKBH8	rs645056	0.711462	0.7762	0.8247	1	0	0	exonic	exonic	exonic	ALKBH8	ALKBH8	ENSG00000137760	synonymous SNV	synonymous SNV	unknown	ALKBH8:NM_138775:exon7:c.T720C:p.D240D,ALKBH8:NM_001301010:exon7:c.T729C:p.D243D,	ALKBH8:uc010rvr.2:exon7:c.T720C:p.D240D,ALKBH8:uc010rvq.2:exon5:c.T309C:p.D103D,ALKBH8:uc009yxp.3:exon7:c.T720C:p.D240D,	UNKNOWN	Het;A>G	750;48|41	Hom;A>G	1778;0|66
N	N	-	11	107673628	107673628	T	C	snp	intronic	 	 	 	 	SLC35F2	Slc35f2	ENSG00000110660	solute carrier family 35 member F2	chr11:107661717-107799019		Stroke; Coronary Artery Disease; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SLC35F2	https://www.uniprot.org/uniprot/Q8IXU6			http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F2&submit=Quick%0D%3975ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F2	rs556153	0.325479	0	0	1	0	0	intronic	intronic	intronic	SLC35F2	SLC35F2	ENSG00000110660	Na	Na	Na	Na	Na	Na	Het;T>C	133;7|5	Hom;T>C	212;0|7
N	N	-	11	107675566	107675566	C	T	snp	UTR3	*1758G>A	 	 	 	SLC35F2	Slc35f2	ENSG00000110660	solute carrier family 35 member F2	chr11:107661717-107799019		Stroke; Coronary Artery Disease; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SLC35F2	https://www.uniprot.org/uniprot/Q8IXU6			http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F2&submit=Quick%0D%3975ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F2	rs495836	0.326478	0.4235	0	1	0	0	intronic	UTR3	intronic	SLC35F2	SLC35F2(uc001pjs.3:c.*1758G>A)	ENSG00000110660	Na	Na	Na	Na	Na	Na	Het;C>T	260;14|13	Hom;C>T	502;0|19
N	N	-	11	107992325	107992325	T	A	snp	ncRNA_exonic	 	 	 	 	AP002433.1																		rs3741055	0.313698	0.1976	0.3881	1	0	0	UTR5	UTR5	ncRNA_exonic	ACAT1(NM_000019:c.-9T>A)	ACAT1(uc001pjw.1:c.-9T>A,uc001pjx.3:c.-12662T>A,uc001pjy.3:c.-9T>A)	ENSG00000255467	Na	Na	Na	Na	Na	Na	Het;T>A	874;56|45	Hom;T>A	2392;0|92
N	N	-	11	107992346	107992346	G	C	snp	nonsynonymous SNV	G13C	A5P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	ACAT1	Acat1	ENSG00000075239	acetyl-CoA acetyltransferase 1	chr11:107992243-108018503	This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]	BMI- Edema rosiglitazone or pioglitazone; dementia; Alzheimer's disease ; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Stroke; lipids; lipoproteins	 	Synthesis of Ketone Bodies	GO:0001889;liver development;IEA|GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006550;isoleucine catabolic process;IMP|GO:0006635;fatty acid beta-oxidation;IBA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0009725;response to hormone;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0015936;coenzyme A metabolic process;IDA|GO:0015937;coenzyme A biosynthetic process;IDA|GO:0042594;response to starvation;IEA|GO:0046356;acetyl-CoA catabolic process;IDA|GO:0046951;ketone body biosynthetic process;TAS|GO:0046952;ketone body catabolic process;TAS|GO:0051260;protein homooligomerization;IEA|GO:0060612;adipose tissue development;IEA|GO:0072229;metanephric proximal convoluted tubule development;IEA|GO:1902224;ketone body metabolic process;IC|GO:1902860;propionyl-CoA biosynthetic process;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003985;acetyl-CoA C-acetyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016747;transferase activity, transferring acyl groups other than amino-acyl groups;IEA|GO:0016830;carbon-carbon lyase activity;IDA|GO:0016885;ligase activity, forming carbon-carbon bonds;IDA|GO:0019899;enzyme binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050662;coenzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAT1	https://www.uniprot.org/uniprot/P24752	https://hpo.jax.org/app/browse/search?q=ACAT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607809	http://www.informatics.jax.org/searchtool/Search.do?query=ACAT1&submit=Quick%0D%1534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAT1	rs3741056	0.331869	0.2097	0.4014	0.25	3	12	exonic	exonic	exonic	ACAT1	ACAT1	ENSG00000075239	nonsynonymous SNV	nonsynonymous SNV	unknown	ACAT1:NM_000019:exon1:c.G13C:p.A5P,	ACAT1:uc001pjw.1:exon1:c.G13C:p.A5P,ACAT1:uc001pjy.3:exon1:c.G13C:p.A5P,	UNKNOWN	Het;G>C	788;49|39	Hom;G>C	2210;0|80
N	N	-	11	108013093	108013093	A	G	snp	intronic	 	 	 	 	ACAT1	Acat1	ENSG00000075239	acetyl-CoA acetyltransferase 1	chr11:107992243-108018503	This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]	BMI- Edema rosiglitazone or pioglitazone; dementia; Alzheimer's disease ; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Stroke; lipids; lipoproteins	 	Synthesis of Ketone Bodies	GO:0001889;liver development;IEA|GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006550;isoleucine catabolic process;IMP|GO:0006635;fatty acid beta-oxidation;IBA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0009725;response to hormone;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0015936;coenzyme A metabolic process;IDA|GO:0015937;coenzyme A biosynthetic process;IDA|GO:0042594;response to starvation;IEA|GO:0046356;acetyl-CoA catabolic process;IDA|GO:0046951;ketone body biosynthetic process;TAS|GO:0046952;ketone body catabolic process;TAS|GO:0051260;protein homooligomerization;IEA|GO:0060612;adipose tissue development;IEA|GO:0072229;metanephric proximal convoluted tubule development;IEA|GO:1902224;ketone body metabolic process;IC|GO:1902860;propionyl-CoA biosynthetic process;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003985;acetyl-CoA C-acetyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016747;transferase activity, transferring acyl groups other than amino-acyl groups;IEA|GO:0016830;carbon-carbon lyase activity;IDA|GO:0016885;ligase activity, forming carbon-carbon bonds;IDA|GO:0019899;enzyme binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050662;coenzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAT1	https://www.uniprot.org/uniprot/P24752	https://hpo.jax.org/app/browse/search?q=ACAT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607809	http://www.informatics.jax.org/searchtool/Search.do?query=ACAT1&submit=Quick%0D%1534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAT1	rs10890818	0.190695	0	0	1	0	0	intronic	intronic	intronic	ACAT1	ACAT1	ENSG00000075239	Na	Na	Na	Na	Na	Na	Het;A>G	331;14|13	Hom;A>G	863;0|27
N	N	-	11	108014799	108014799	C	T	snp	intronic	 	 	 	 	ACAT1	Acat1	ENSG00000075239	acetyl-CoA acetyltransferase 1	chr11:107992243-108018503	This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]	BMI- Edema rosiglitazone or pioglitazone; dementia; Alzheimer's disease ; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Stroke; lipids; lipoproteins	 	Synthesis of Ketone Bodies	GO:0001889;liver development;IEA|GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006550;isoleucine catabolic process;IMP|GO:0006635;fatty acid beta-oxidation;IBA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0009725;response to hormone;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0015936;coenzyme A metabolic process;IDA|GO:0015937;coenzyme A biosynthetic process;IDA|GO:0042594;response to starvation;IEA|GO:0046356;acetyl-CoA catabolic process;IDA|GO:0046951;ketone body biosynthetic process;TAS|GO:0046952;ketone body catabolic process;TAS|GO:0051260;protein homooligomerization;IEA|GO:0060612;adipose tissue development;IEA|GO:0072229;metanephric proximal convoluted tubule development;IEA|GO:1902224;ketone body metabolic process;IC|GO:1902860;propionyl-CoA biosynthetic process;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003985;acetyl-CoA C-acetyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016747;transferase activity, transferring acyl groups other than amino-acyl groups;IEA|GO:0016830;carbon-carbon lyase activity;IDA|GO:0016885;ligase activity, forming carbon-carbon bonds;IDA|GO:0019899;enzyme binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050662;coenzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAT1	https://www.uniprot.org/uniprot/P24752	https://hpo.jax.org/app/browse/search?q=ACAT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607809	http://www.informatics.jax.org/searchtool/Search.do?query=ACAT1&submit=Quick%0D%1534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAT1	rs10890819	0.308506	0.2437	0.3421	1	0	0	intronic	intronic	intronic	ACAT1	ACAT1	ENSG00000075239	Na	Na	Na	Na	Na	Na	Het;C>T	218;16|13	Hom;C>T	458;0|17
N	N	-	11	108043988	108043988	C	T	snp	nonsynonymous SNV	G1723A	V575I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NPAT	Npat	ENSG00000149308	nuclear protein, coactivator of histone transcription	chr11:108027942-108093369		Type 2 Diabetes| edema | rosiglitazone; bladder cancer	 		GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0010468;regulation of gene expression;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0097504;Gemini of coiled bodies;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IMP|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPAT	https://www.uniprot.org/uniprot/Q14207		https://www.ncbi.nlm.nih.gov/omim/?term=601448	http://www.informatics.jax.org/searchtool/Search.do?query=NPAT&submit=Quick%0D%9220ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAT	rs2070661	0.615615	0.5932	0.5950	0.15	2	13	exonic	exonic	exonic	NPAT	NPAT	ENSG00000149308	nonsynonymous SNV	nonsynonymous SNV	unknown	NPAT:NM_002519:exon13:c.G1723A:p.V575I,	NPAT:uc001pka.3:exon8:c.G1108A:p.V370I,NPAT:uc001pjz.4:exon13:c.G1723A:p.V575I,	UNKNOWN	Het;C>T	1262;45|53	Hom;C>T	3552;0|125
N	N	-	11	108059000	108059000	T	C	snp	intronic	 	 	 	 	NPAT	Npat	ENSG00000149308	nuclear protein, coactivator of histone transcription	chr11:108027942-108093369		Type 2 Diabetes| edema | rosiglitazone; bladder cancer	 		GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0010468;regulation of gene expression;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0097504;Gemini of coiled bodies;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IMP|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPAT	https://www.uniprot.org/uniprot/Q14207		https://www.ncbi.nlm.nih.gov/omim/?term=601448	http://www.informatics.jax.org/searchtool/Search.do?query=NPAT&submit=Quick%0D%9220ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAT	rs3781869	0.48762	0	0	1	0	0	intronic	intronic	intronic	NPAT	NPAT	ENSG00000149308	Na	Na	Na	Na	Na	Na	Het;T>C	159;2|5	Hom;T>C	259;0|7
N	N	-	11	108093208	108093208	A	T	snp	intronic	 	 	 	 	NPAT	Npat	ENSG00000149308	nuclear protein, coactivator of histone transcription	chr11:108027942-108093369		Type 2 Diabetes| edema | rosiglitazone; bladder cancer	 		GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0010468;regulation of gene expression;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0097504;Gemini of coiled bodies;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IMP|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPAT	https://www.uniprot.org/uniprot/Q14207		https://www.ncbi.nlm.nih.gov/omim/?term=601448	http://www.informatics.jax.org/searchtool/Search.do?query=NPAT&submit=Quick%0D%9220ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAT	rs228589	0.539137	0.5279	0.5720	1	0	0	intronic	intronic	intronic	NPAT	NPAT	ENSG00000149308	Na	Na	Na	Na	Na	Na	Het;A>T	576;31|29	Hom;A>T	939;0|37
N	N	-	11	108093833	108093833	G	A	snp	UTR5	-4519G>A	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs189037	0.476038	0	0	1	0	0	UTR5	UTR5	UTR5	ATM(NM_000051:c.-4519G>A)	ATM(uc001pkb.1:c.-4519G>A,uc009yxr.1:c.-4519G>A)	ENSG00000149311(ENST00000527805:c.-4519G>A,ENST00000278616:c.-4519G>A,ENST00000527891:c.-4519G>A,ENST00000532931:c.-4519G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	703;53|36	Hom;G>A	2878;0|108
N	N	-	11	108098459	108098461	TAA	T	indel	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs2066734	0.38119	0.3358	0.4253	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;-AA	1591;59|43	Hom;-AA	4488;0|101
N	N	-	11	108129657	108129657	A	G	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs672655	0.476438	0.4792	0	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;A>G	234;20|13	Hom;A>G	527;0|19
N	N	-	11	108141134	108141134	G	A	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs228593	0.314097	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;G>A	96;2|6	Hom;G>A	473;0|18
N	N	-	11	108141701	108141701	G	T	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs651030	0.373003	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;G>T	89;17|5	Hom;G>T	601;1|19
N	N	-	11	108143182	108143182	C	T	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs664677	0.652556	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;C>T	478;19|21	Hom;C>T	836;0|26
N	N	-	11	108151707	108151707	T	TA	indel	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs3218681	0.542133	0.5562	0.5675	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;+A	1356;59|71	Hom;+A	3381;0|128
N	N	-	11	108155397	108155397	G	A	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs654005	0.527556	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;G>A	1392;51|64	Hom;G>A	3936;0|147
N	N	-	11	108158134	108158134	T	C	snp	UTR5	-244T>C	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs609261	0.511781	0	0	1	0	0	intronic	UTR5	intronic	ATM	ATM(uc001pkd.4:c.-244T>C,uc001pke.2:c.-244T>C)	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;T>C	469;29|24	Hom;T>C	1304;0|45
N	N	-	11	108170271	108170271	G	A	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs1150203	0.478235	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM	ENSG00000149311	Na	Na	Na	Na	Na	Na	Het;G>A	115;6|5	Hom;G>A	144;0|5
N	N	-	11	108181511	108181511	A	C	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs660429	0.519968	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;A>C	134;7|6	Hom;A>C	772;0|27
N	N	-	11	108196712	108196715	CATT	C	indel	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs139867587	0.484824	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;-ATT	203;4|6	Hom;-ATT	638;0|15
N	N	-	11	108204881	108204881	C	T	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs227060	0.323283	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;C>T	257;9|12	Hom;C>T	510;0|19
N	N	-	11	108204945	108204946	GT	G	indel	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs4988129	0.518171	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;-T	397;16|14	Hom;-T	974;0|27
N	N	-	11	108205329	108205329	A	G	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs227061	0.51857	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;A>G	271;7|10	Hom;A>G	680;0|21
N	N	-	11	108205383	108205383	G	A	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs227062	0.536941	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;G>A	228;5|9	Hom;G>A	419;0|14
N	N	-	11	108218196	108218196	T	C	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs227075	0.630192	0	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;T>C	369;13|15	Hom;T>C	963;0|31
N	N	-	11	108225483	108225483	C	T	snp	intronic	 	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs664982	0.535144	0.5182	0	1	0	0	intronic	intronic	intronic	ATM	ATM,C11orf65	ENSG00000149311,ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;C>T	426;33|23	Hom;C>T	1841;0|68
N	N	-	11	108225661	108225661	A	G	snp	UTR3	*1177T>C	 	 	 	C11orf65	4930550C14Rik	ENSG00000166323	chromosome 11 open reading frame 65	chr11:108179246-108338258		Metformin; bladder cancer	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C11orf65				http://www.informatics.jax.org/searchtool/Search.do?query=C11orf65&submit=Quick%0D%11757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf65	rs664143	0.628195	0.6023	0	1	0	0	intronic	intronic	UTR3	ATM	ATM,C11orf65	ENSG00000166323(ENST00000527531:c.*1177T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	219;11|11	Hom;A>G	871;0|26
N	N	-	11	108236783	108236783	G	T	snp	UTR3	*548G>T	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs227092	0.518371	0	0	1	0	0	UTR3	UTR3	UTR3	ATM(NM_000051:c.*548G>T)	ATM(uc001pkb.1:c.*548G>T,uc009yxr.1:c.*548G>T,uc001pke.2:c.*548G>T)	ENSG00000149311(ENST00000278616:c.*548G>T,ENST00000452508:c.*548G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	238;15|11	Hom;G>T	861;0|29
N	N	-	11	108239628	108239628	G	T	snp	UTR3	*3393G>T	 	 	 	ATM	Atm	ENSG00000149311	ATM serine/threonine kinase	chr11:108093211-108239829	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]	Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; mutations in the ATM gene; lung cancer silicosis; Adenocarcinoma|Pancreatic Neoplasms; gastric cancer; breast cancer; Hodgkin's disease; Breast Neoplasms|Neoplasms; diffuse large B-cell lymphoma; radiosensitivity; lymphoma; Hodgkin's disease; epithelial ovarian cancer ; pancreatic cancer; radiotherapy response; colorectal cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung |Radiation Pneumonitis|Small cell carcinoma of lung|Small Cell Lung Carcinoma; ataxia telangiectasia; ovarian cancer ; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; leukemia; rectal cancer; Hodgkin disease; Leukemia, Myeloid|Myeloid Leukemia; subcutaneous fibrosis; Ataxia Telangiectasia|Carcinoma, Squamous Cell|Mouth Neoplasms; Neoplasms; Pancreatic Neoplasms; radiation-induced ocular telangiectasia; Breast Neoplasms; DNA Damage|; Chromosome Aberrations|Chromosome abnormality|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; radiotherapy; Prostatic Neoplasms; breast cancer; Mouth Neoplasms; hypertension; endometrial cancer; breast cancer ; Mouth Neoplasms|Precancerous Conditions; bladder cancer; prostate cancer; esophageal adenocarcinoma; Brain Neoplasms|Glioma; Colorectal Neoplasms; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma; Ataxia Telangiectasia|Neoplasms; fibrosis, subcutaneous; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; ataxia-telangiectasia; Ataxia Telangiectasia; Melanoma; schizophrenia; Ataxia Telangiectasia|Louis-Bar syndrome|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Fibrosis|Neoplasms|Radiation Injuries; lung cancer; DNA damage DNA repair lung cancer; DNA Damage|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms	Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.	Meiotic recombination	GO:0000077;DNA damage checkpoint;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001756;somitogenesis;IEA|GO:0002331;pre-B cell allelic exclusion;ISS|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007140;male meiotic nuclear division;IEA|GO:0007143;female meiotic division;IEA|GO:0007165;signal transduction;TAS|GO:0007292;female gamete generation;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008585;female gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009791;post-embryonic development;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0010506;regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0033129;positive regulation of histone phosphorylation;IEA|GO:0033151;V(D)J recombination;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0042159;lipoprotein catabolic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0048538;thymus development;IEA|GO:0048599;oocyte development;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:0071044;histone mRNA catabolic process;IDA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IDA|GO:0071500;cellular response to nitrosative stress;IDA|GO:0072434;signal transduction involved in mitotic G2 DNA damage checkpoint;IMP|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP|GO:1904354;negative regulation of telomere capping;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP	GO:0000781;chromosome, telomeric region;IDA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1990391;DNA repair complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0046983;protein dimerization activity;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATM	https://www.uniprot.org/uniprot/Q13315	https://hpo.jax.org/app/browse/search?q=ATM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607585	http://www.informatics.jax.org/searchtool/Search.do?query=ATM&submit=Quick%0D%9221ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATM	rs4585	0.534545	0	0	1	0	0	UTR3	UTR3	UTR3	ATM(NM_000051:c.*3393G>T)	ATM(uc001pkb.1:c.*3393G>T,uc009yxr.1:c.*3393G>T,uc001pke.2:c.*3393G>T)	ENSG00000149311(ENST00000278616:c.*3393G>T,ENST00000452508:c.*3393G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	187;12|11	Hom;G>T	395;0|15
N	N	-	11	108256837	108256837	A	T	snp	intronic	 	 	 	 	C11orf65	4930550C14Rik	ENSG00000166323	chromosome 11 open reading frame 65	chr11:108179246-108338258		Metformin; bladder cancer	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C11orf65				http://www.informatics.jax.org/searchtool/Search.do?query=C11orf65&submit=Quick%0D%11757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf65	rs113995	0.534944	0	0	1	0	0	intronic	intronic	intronic	C11orf65	C11orf65	ENSG00000166323	Na	Na	Na	Na	Na	Na	Het;A>T	77;3|4	Hom;A>T	110;0|4
N	N	-	11	108345515	108345515	G	GA	indel	UTR3	*39C>TC	 	 	 	KDELC2	Kdelc2	ENSG00000178202	KDEL motif containing 2	chr11:108342832-108369159			 		GO:0006664;glycolipid metabolic process;IBA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA	GO:0003674;molecular_function;ND|GO:0046527;glucosyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KDELC2				http://www.informatics.jax.org/searchtool/Search.do?query=KDELC2&submit=Quick%0D%14152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDELC2	rs11374964	0.483027	0.4204	0.4644	1	0	0	UTR3	UTR3	UTR3	KDELC2(NM_153705:c.*39C>TC)	KDELC2(uc001pki.2:c.*39C>TC,uc001pkj.2:c.*39C>TC)	ENSG00000178202(ENST00000323468:c.*39C>TC,ENST00000434945:c.*39C>TC,ENST00000530529:c.*282C>TC,ENST00000530318:c.*39C>TC)	Na	Na	Na	Na	Na	Na	Het;+A	418;22|14	Hom;+A	1213;0|31
N	N	-	11	1086163	1086163	C	A	snp	intronic	 	 	 	 	MUC2	Muc2	ENSG00000278466	mucin 2, oligomeric mucus/gel-forming	chr11:1074875-1104419	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]	Stomach Neoplasms; respiratory syncytial virus bronchiolitis; Otitis Media|Otitis Media with Effusion|Recurrence; asthma; atopy; Asthma; Tobacco Use Disorder; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a point mutation have soft feces at weaning and develop diarrhea associated with malapsorption syndrome. Homozygous null mutants pass blood in their feces at 6 months, and 65% of null mutants have intestinal tumors at 1 year.			GO:0005576;extracellular region;IEA|GO:0070701;mucus layer;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC2			https://www.ncbi.nlm.nih.gov/omim/?term=158370	http://www.informatics.jax.org/searchtool/Search.do?query=MUC2&submit=Quick%0D%22054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC2	rs7926689	0.108826	0	0.2599	1	0	0	intronic	intronic	intronic	MUC2	MUC2	ENSG00000198788	Na	Na	Na	Na	Na	Na	Het;C>A	1202;36|56	Hom;C>A	2188;0|81
N	N	-	11	108722851	108722851	C	G	snp	intronic	 	 	 	 	DDX10	Ddx10	ENSG00000178105	DEAD-box helicase 10	chr11:108535752-108811657	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]	Electrocardiography; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a spontaneous allele exhibit craniofacial defects, including decreased cranium length, cleft palate, and short snout, and show reduced body size, body weight, lean body mass, and bone mineral content.		GO:0010501;RNA secondary structure unwinding;IBA		GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003724;RNA helicase activity;TAS|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX10			https://www.ncbi.nlm.nih.gov/omim/?term=601235	http://www.informatics.jax.org/searchtool/Search.do?query=DDX10&submit=Quick%0D%14136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX10	rs10890899	0.369209	0.4450	0.5580	1	0	0	intronic	intronic	intronic	DDX10	DDX10	ENSG00000178105	Na	Na	Na	Na	Na	Na	Het;C>G	1872;96|89	Hom;C>G	7468;2|271
N	N	-	11	108861193	108861193	C	A	snp	intergenic	 	 	 	 	AP003027.1																		rs12363414	0.401757	0	0	1	0	0	intergenic	intergenic	intergenic	DDX10(dist=49536),C11orf87(dist=431653)	DDX10(dist=49545),5S_rRNA(dist=130412)	ENSG00000203334(dist=30670),ENSG00000255528(dist=11999)	Na	Na	Na	Na	Na	Na	Het;C>A	675;96|44	Hom;C>A	3444;0|131
N	N	-	11	10886727	10886727	T	C	snp	ncRNA_intronic	 	 	 	 	ZBED5-AS1																		rs7106192	0.645966	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ZBED5-AS1	ZBED5-AS1	ENSG00000247271	Na	Na	Na	Na	Na	Na	Het;T>C	383;19|14	Hom;T>C	804;0|22
N	N	-	11	110023628	110023628	C	T	snp	intronic	 	 	 	 	ZC3H12C	Zc3h12c	ENSG00000149289	zinc finger CCCH-type containing 12C	chr11:109964087-110042566		Hip; Exercise Test; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit lymphadenopathy associated with increased IFNgamma signaling.		GO:0008150;biological_process;ND|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H12C	https://www.uniprot.org/uniprot/Q9C0D7		https://www.ncbi.nlm.nih.gov/omim/?term=615001	http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H12C&submit=Quick%0D%9214ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H12C	rs665013	0.706869	0.6823	0.7469	1	0	0	intronic	intronic	intronic	ZC3H12C	ZC3H12C	ENSG00000149289	Na	Na	Na	Na	Na	Na	Het;C>T	622;27|28	Hom;C>T	1145;0|42
N	N	-	11	110101279	110101279	T	TTCTC	indel	UTR3	*1315A>GAGAA	 	 	 	RDX	Rdx	ENSG00000137710	radixin	chr11:110045605-110167447	Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]	Arteries; Glaucoma, Open-Angle; Myocardial Infarction	Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing.	Recycling pathway of L1	GO:0008360;regulation of cell shape;IMP|GO:0008361;regulation of cell size;IGI|GO:0010628;positive regulation of gene expression;IGI|GO:0010737;protein kinase A signaling;ISS|GO:0030033;microvillus assembly;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0032231;regulation of actin filament bundle assembly;IMP|GO:0032487;regulation of Rap protein signal transduction;ISS|GO:0034111;negative regulation of homotypic cell-cell adhesion;IMP|GO:0034260;negative regulation of GTPase activity;IMP|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0043087;regulation of GTPase activity;IGI|GO:0045176;apical protein localization;IEA|GO:0045184;establishment of protein localization;ISS|GO:0045792;negative regulation of cell size;IMP|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA|GO:0061028;establishment of endothelial barrier;IGI|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0097067;cellular response to thyroid hormone stimulus;ISS|GO:1900027;regulation of ruffle assembly;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;ISS|GO:1902115;regulation of organelle assembly;IGI|GO:1902966;positive regulation of protein localization to early endosome;IGI|GO:1903364;positive regulation of cellular protein catabolic process;IGI|GO:1903392;negative regulation of adherens junction organization;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IGI	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;ISS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030315;T-tubule;IEA|GO:0030496;midbody;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0032154;cleavage furrow;IEA|GO:0032420;stereocilium;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IEA|GO:0051286;cell tip;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0045296;cadherin binding;IDA|GO:0051018;protein kinase A binding;ISS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RDX	https://www.uniprot.org/uniprot/P35241	https://hpo.jax.org/app/browse/search?q=RDX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179410	http://www.informatics.jax.org/searchtool/Search.do?query=RDX&submit=Quick%0D%7585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RDX	rs146333854	0	0	0	1	0	0	UTR3	UTR3	UTR3	RDX(NM_002906:c.*1315A>GAGAA,NM_001260494:c.*1315A>GAGAA)	RDX(uc001pks.3:c.*1315A>GAGAA,uc001pkt.3:c.*1315A>GAGAA,uc001pku.3:c.*1315A>GAGAA,uc010rwe.2:c.*1315A>GAGAA)	ENSG00000137710(ENST00000343115:c.*1315A>GAGAA)	Na	Na	Na	Na	Na	Na	Het;+TCTC	680;20|19	Hom;+TCTC	2299;0|51
N	N	-	11	110101670	110101671	GA	G	indel	UTR3	*924_*923delinsC	 	 	 	RDX	Rdx	ENSG00000137710	radixin	chr11:110045605-110167447	Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]	Arteries; Glaucoma, Open-Angle; Myocardial Infarction	Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing.	Recycling pathway of L1	GO:0008360;regulation of cell shape;IMP|GO:0008361;regulation of cell size;IGI|GO:0010628;positive regulation of gene expression;IGI|GO:0010737;protein kinase A signaling;ISS|GO:0030033;microvillus assembly;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0032231;regulation of actin filament bundle assembly;IMP|GO:0032487;regulation of Rap protein signal transduction;ISS|GO:0034111;negative regulation of homotypic cell-cell adhesion;IMP|GO:0034260;negative regulation of GTPase activity;IMP|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0043087;regulation of GTPase activity;IGI|GO:0045176;apical protein localization;IEA|GO:0045184;establishment of protein localization;ISS|GO:0045792;negative regulation of cell size;IMP|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA|GO:0061028;establishment of endothelial barrier;IGI|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0097067;cellular response to thyroid hormone stimulus;ISS|GO:1900027;regulation of ruffle assembly;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;ISS|GO:1902115;regulation of organelle assembly;IGI|GO:1902966;positive regulation of protein localization to early endosome;IGI|GO:1903364;positive regulation of cellular protein catabolic process;IGI|GO:1903392;negative regulation of adherens junction organization;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IGI	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;ISS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030315;T-tubule;IEA|GO:0030496;midbody;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0032154;cleavage furrow;IEA|GO:0032420;stereocilium;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IEA|GO:0051286;cell tip;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0045296;cadherin binding;IDA|GO:0051018;protein kinase A binding;ISS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RDX	https://www.uniprot.org/uniprot/P35241	https://hpo.jax.org/app/browse/search?q=RDX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179410	http://www.informatics.jax.org/searchtool/Search.do?query=RDX&submit=Quick%0D%7585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RDX	rs35381725	0.732628	0	0	1	0	0	UTR3	UTR3	UTR3	RDX(NM_002906:c.*924_*923delinsC,NM_001260494:c.*924_*923delinsC)	RDX(uc001pks.3:c.*924_*923delinsC,uc001pkt.3:c.*924_*923delinsC,uc001pku.3:c.*924_*923delinsC,uc010rwe.2:c.*924_*923delinsC)	ENSG00000137710(ENST00000343115:c.*924_*923delinsC)	Na	Na	Na	Na	Na	Na	Het;-A	141;8|7	Hom;-A	312;0|11
N	N	-	11	110103924	110103924	A	C	snp	intronic	 	 	 	 	RDX	Rdx	ENSG00000137710	radixin	chr11:110045605-110167447	Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]	Arteries; Glaucoma, Open-Angle; Myocardial Infarction	Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing.	Recycling pathway of L1	GO:0008360;regulation of cell shape;IMP|GO:0008361;regulation of cell size;IGI|GO:0010628;positive regulation of gene expression;IGI|GO:0010737;protein kinase A signaling;ISS|GO:0030033;microvillus assembly;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0032231;regulation of actin filament bundle assembly;IMP|GO:0032487;regulation of Rap protein signal transduction;ISS|GO:0034111;negative regulation of homotypic cell-cell adhesion;IMP|GO:0034260;negative regulation of GTPase activity;IMP|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0043087;regulation of GTPase activity;IGI|GO:0045176;apical protein localization;IEA|GO:0045184;establishment of protein localization;ISS|GO:0045792;negative regulation of cell size;IMP|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA|GO:0061028;establishment of endothelial barrier;IGI|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0097067;cellular response to thyroid hormone stimulus;ISS|GO:1900027;regulation of ruffle assembly;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;ISS|GO:1902115;regulation of organelle assembly;IGI|GO:1902966;positive regulation of protein localization to early endosome;IGI|GO:1903364;positive regulation of cellular protein catabolic process;IGI|GO:1903392;negative regulation of adherens junction organization;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IGI	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;ISS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030315;T-tubule;IEA|GO:0030496;midbody;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0032154;cleavage furrow;IEA|GO:0032420;stereocilium;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IEA|GO:0051286;cell tip;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0045296;cadherin binding;IDA|GO:0051018;protein kinase A binding;ISS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RDX	https://www.uniprot.org/uniprot/P35241	https://hpo.jax.org/app/browse/search?q=RDX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179410	http://www.informatics.jax.org/searchtool/Search.do?query=RDX&submit=Quick%0D%7585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RDX	rs10450619	0.43111	0.3882	0.4177	1	0	0	intronic	intronic	intronic	RDX	RDX	ENSG00000137710	Na	Na	Na	Na	Na	Na	Het;A>C	828;19|36	Hom;A>C	2821;0|102
N	N	-	11	110118364	110118364	A	C	snp	intronic	 	 	 	 	RDX	Rdx	ENSG00000137710	radixin	chr11:110045605-110167447	Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]	Arteries; Glaucoma, Open-Angle; Myocardial Infarction	Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing.	Recycling pathway of L1	GO:0008360;regulation of cell shape;IMP|GO:0008361;regulation of cell size;IGI|GO:0010628;positive regulation of gene expression;IGI|GO:0010737;protein kinase A signaling;ISS|GO:0030033;microvillus assembly;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0032231;regulation of actin filament bundle assembly;IMP|GO:0032487;regulation of Rap protein signal transduction;ISS|GO:0034111;negative regulation of homotypic cell-cell adhesion;IMP|GO:0034260;negative regulation of GTPase activity;IMP|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0043087;regulation of GTPase activity;IGI|GO:0045176;apical protein localization;IEA|GO:0045184;establishment of protein localization;ISS|GO:0045792;negative regulation of cell size;IMP|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA|GO:0061028;establishment of endothelial barrier;IGI|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0097067;cellular response to thyroid hormone stimulus;ISS|GO:1900027;regulation of ruffle assembly;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;ISS|GO:1902115;regulation of organelle assembly;IGI|GO:1902966;positive regulation of protein localization to early endosome;IGI|GO:1903364;positive regulation of cellular protein catabolic process;IGI|GO:1903392;negative regulation of adherens junction organization;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IGI	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;ISS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030315;T-tubule;IEA|GO:0030496;midbody;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0032154;cleavage furrow;IEA|GO:0032420;stereocilium;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IEA|GO:0051286;cell tip;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0045296;cadherin binding;IDA|GO:0051018;protein kinase A binding;ISS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RDX	https://www.uniprot.org/uniprot/P35241	https://hpo.jax.org/app/browse/search?q=RDX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179410	http://www.informatics.jax.org/searchtool/Search.do?query=RDX&submit=Quick%0D%7585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RDX	rs17110988	0.42512	0	0	1	0	0	intronic	intronic	intronic	RDX	RDX	ENSG00000137710	Na	Na	Na	Na	Na	Na	Het;A>C	178;20|11	Hom;A>C	1316;0|43
N	N	-	11	110126197	110126197	A	G	snp	intronic	 	 	 	 	RDX	Rdx	ENSG00000137710	radixin	chr11:110045605-110167447	Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]	Arteries; Glaucoma, Open-Angle; Myocardial Infarction	Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing.	Recycling pathway of L1	GO:0008360;regulation of cell shape;IMP|GO:0008361;regulation of cell size;IGI|GO:0010628;positive regulation of gene expression;IGI|GO:0010737;protein kinase A signaling;ISS|GO:0030033;microvillus assembly;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0032231;regulation of actin filament bundle assembly;IMP|GO:0032487;regulation of Rap protein signal transduction;ISS|GO:0034111;negative regulation of homotypic cell-cell adhesion;IMP|GO:0034260;negative regulation of GTPase activity;IMP|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0043087;regulation of GTPase activity;IGI|GO:0045176;apical protein localization;IEA|GO:0045184;establishment of protein localization;ISS|GO:0045792;negative regulation of cell size;IMP|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA|GO:0061028;establishment of endothelial barrier;IGI|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0097067;cellular response to thyroid hormone stimulus;ISS|GO:1900027;regulation of ruffle assembly;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;ISS|GO:1902115;regulation of organelle assembly;IGI|GO:1902966;positive regulation of protein localization to early endosome;IGI|GO:1903364;positive regulation of cellular protein catabolic process;IGI|GO:1903392;negative regulation of adherens junction organization;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IGI	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;ISS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030315;T-tubule;IEA|GO:0030496;midbody;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0032154;cleavage furrow;IEA|GO:0032420;stereocilium;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IEA|GO:0051286;cell tip;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0045296;cadherin binding;IDA|GO:0051018;protein kinase A binding;ISS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RDX	https://www.uniprot.org/uniprot/P35241	https://hpo.jax.org/app/browse/search?q=RDX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179410	http://www.informatics.jax.org/searchtool/Search.do?query=RDX&submit=Quick%0D%7585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RDX	rs2306085	0.431909	0	0	1	0	0	intronic	intronic	intronic	RDX	RDX	ENSG00000137710	Na	Na	Na	Na	Na	Na	Het;A>G	217;3|7	Hom;A>G	396;0|12
N	N	-	11	110150486	110150487	TA	T	indel	intronic	 	 	 	 	RDX	Rdx	ENSG00000137710	radixin	chr11:110045605-110167447	Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]	Arteries; Glaucoma, Open-Angle; Myocardial Infarction	Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing.	Recycling pathway of L1	GO:0008360;regulation of cell shape;IMP|GO:0008361;regulation of cell size;IGI|GO:0010628;positive regulation of gene expression;IGI|GO:0010737;protein kinase A signaling;ISS|GO:0030033;microvillus assembly;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0032231;regulation of actin filament bundle assembly;IMP|GO:0032487;regulation of Rap protein signal transduction;ISS|GO:0034111;negative regulation of homotypic cell-cell adhesion;IMP|GO:0034260;negative regulation of GTPase activity;IMP|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0043087;regulation of GTPase activity;IGI|GO:0045176;apical protein localization;IEA|GO:0045184;establishment of protein localization;ISS|GO:0045792;negative regulation of cell size;IMP|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA|GO:0061028;establishment of endothelial barrier;IGI|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0097067;cellular response to thyroid hormone stimulus;ISS|GO:1900027;regulation of ruffle assembly;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;ISS|GO:1902115;regulation of organelle assembly;IGI|GO:1902966;positive regulation of protein localization to early endosome;IGI|GO:1903364;positive regulation of cellular protein catabolic process;IGI|GO:1903392;negative regulation of adherens junction organization;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IGI	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;ISS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030315;T-tubule;IEA|GO:0030496;midbody;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0032154;cleavage furrow;IEA|GO:0032420;stereocilium;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IEA|GO:0051286;cell tip;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0045296;cadherin binding;IDA|GO:0051018;protein kinase A binding;ISS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RDX	https://www.uniprot.org/uniprot/P35241	https://hpo.jax.org/app/browse/search?q=RDX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179410	http://www.informatics.jax.org/searchtool/Search.do?query=RDX&submit=Quick%0D%7585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RDX	rs61003001	0.46845	0	0	1	0	0	intronic	intronic	intronic	RDX	RDX	ENSG00000137710	Na	Na	Na	Na	Na	Na	Het;-A	182;5|11	Hom;-A	558;0|25
N	N	-	11	110237299	110237299	A	G	snp	ncRNA_intronic	 	 	 	 	AK094117																		rs2724409	0.508786	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	RDX(dist=69862),FDX1(dist=63362)	AK094117,AK124179	ENSG00000254416	Na	Na	Na	Na	Na	Na	Het;A>G	804;28|37	Hom;A>G	2101;0|75
N	N	-	11	110301799	110301799	A	G	snp	intronic	 	 	 	 	FDX1	Fdx1	ENSG00000137714	ferredoxin 1	chr11:110300607-110335605	This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]	smoking cessation; lung cancer; Obesity; Insulin; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Arteries	 	Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0016125;sterol metabolic process;TAS|GO:0042446;hormone biosynthetic process;IDA|GO:0044281;small molecule metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071320;cellular response to cAMP;IEA|GO:1904322;cellular response to forskolin;IEA	GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS	GO:0005506;iron ion binding;TAS|GO:0009055;electron carrier activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FDX1	https://www.uniprot.org/uniprot/P10109		https://www.ncbi.nlm.nih.gov/omim/?term=103260	http://www.informatics.jax.org/searchtool/Search.do?query=FDX1&submit=Quick%0D%7587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FDX1	rs11213398	0.363419	0	0	1	0	0	intronic	intronic	intronic	FDX1	FDX1	ENSG00000137714	Na	Na	Na	Na	Na	Na	Het;A>G	162;3|9	Hom;A>G	71;0|4
N	N	-	11	110301825	110301828	TAGC	T	indel	intronic	 	 	 	 	FDX1	Fdx1	ENSG00000137714	ferredoxin 1	chr11:110300607-110335605	This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]	smoking cessation; lung cancer; Obesity; Insulin; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Arteries	 	Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0016125;sterol metabolic process;TAS|GO:0042446;hormone biosynthetic process;IDA|GO:0044281;small molecule metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071320;cellular response to cAMP;IEA|GO:1904322;cellular response to forskolin;IEA	GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS	GO:0005506;iron ion binding;TAS|GO:0009055;electron carrier activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FDX1	https://www.uniprot.org/uniprot/P10109		https://www.ncbi.nlm.nih.gov/omim/?term=103260	http://www.informatics.jax.org/searchtool/Search.do?query=FDX1&submit=Quick%0D%7587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FDX1	rs35673502	0	0	0	1	0	0	intronic	intronic	intronic	FDX1	FDX1	ENSG00000137714	Na	Na	Na	Na	Na	Na	Het;-AGC	393;5|11	Hom;-AGC	137;0|4
N	N	-	11	112483145	112483145	G	C	snp	ncRNA_intronic	 	 	 	 	AP003063.1																		rs4489778	0.284145	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC387810(dist=56620),LOC101928847(dist=346858)	NONE(dist=NONE),AL833634(dist=346858)	ENSG00000254968	Na	Na	Na	Na	Na	Na	Het;G>C	282;1|9	Hom;G>C	357;0|10
N	N	-	11	112483168	112483168	C	T	snp	ncRNA_intronic	 	 	 	 	AP003063.1																		rs4604926	0.280751	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC387810(dist=56643),LOC101928847(dist=346835)	NONE(dist=NONE),AL833634(dist=346835)	ENSG00000254968	Na	Na	Na	Na	Na	Na	Het;C>T	304;1|10	Hom;C>T	456;0|14
N	N	-	11	112626686	112626686	C	T	snp	intergenic	 	 	 	 	AP003063.1																		rs7127817	0.223243	0	0	1	0	0	intergenic	intergenic	intergenic	LOC387810(dist=200161),LOC101928847(dist=203317)	NONE(dist=NONE),AL833634(dist=203317)	ENSG00000254968(dist=134234),ENSG00000254626(dist=31341)	Na	Na	Na	Na	Na	Na	Het;C>T	146;17|8	Hom;C>T	723;0|26
N	N	-	11	11287167	11287169	TTC	T	indel	intergenic	 	 	 	 	KC877392.1																		rs138233899	0.331869	0	0	1	0	0	intergenic	intergenic	intergenic	ZBED5-AS1(dist=386344),GALNT18(dist=5252)	AK056982(dist=366343),GALNT18(dist=5252)	ENSG00000255260(dist=21905),ENSG00000110328(dist=5254)	Na	Na	Na	Na	Na	Na	Het;-TC	53;2|3	Hom;-TC	278;0|7
N	N	-	11	113268059	113268059	G	A	snp	nonsynonymous SNV	G952A	G318R	aliphatic,neutral	polar,hydrophilic,charged(+)	ANKK1	Ankk1	ENSG00000170209	ankyrin repeat and kinase domain containing 1	chr11:113258513-113271140	The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]	Alcoholism|Substance-Related Disorders; personality; Brain Injuries; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Opioid-Related Disorders; Alcoholism|; nicotine dependence; Alcoholism; null; electrocortical measures of error and feedback processing; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; Nervous System Diseases; Alcoholism|Disease Susceptibility; Fatigue; Marijuana Abuse|Psychoses, Substance-Induced; Hyperphagia|Obesity|Weight Gain; alcohol; Schizophrenia; bladder cancer	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKK1			https://www.ncbi.nlm.nih.gov/omim/?term=608774	http://www.informatics.jax.org/searchtool/Search.do?query=ANKK1&submit=Quick%0D%12649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKK1	rs11604671	0.226238	0.3747	0.3992	0.08	1	13	exonic	exonic	exonic	ANKK1	ANKK1	ENSG00000170209	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKK1:NM_178510:exon6:c.G952A:p.G318R,	ANKK1:uc001pny.3:exon6:c.G952A:p.G318R,	UNKNOWN	Het;G>A	1495;72|76	Hom;G>A	2338;0|84
N	N	-	11	113270160	113270160	A	G	snp	nonsynonymous SNV	A1469G	H490R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ANKK1	Ankk1	ENSG00000170209	ankyrin repeat and kinase domain containing 1	chr11:113258513-113271140	The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]	Alcoholism|Substance-Related Disorders; personality; Brain Injuries; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Opioid-Related Disorders; Alcoholism|; nicotine dependence; Alcoholism; null; electrocortical measures of error and feedback processing; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; Nervous System Diseases; Alcoholism|Disease Susceptibility; Fatigue; Marijuana Abuse|Psychoses, Substance-Induced; Hyperphagia|Obesity|Weight Gain; alcohol; Schizophrenia; bladder cancer	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKK1			https://www.ncbi.nlm.nih.gov/omim/?term=608774	http://www.informatics.jax.org/searchtool/Search.do?query=ANKK1&submit=Quick%0D%12649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKK1	rs2734849	0.245008	0.3919	0.4502	0.15	2	13	exonic	exonic	exonic	ANKK1	ANKK1	ENSG00000170209	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKK1:NM_178510:exon8:c.A1469G:p.H490R,	ANKK1:uc001pny.3:exon8:c.A1469G:p.H490R,	UNKNOWN	Het;A>G	1975;114|96	Hom;A>G	4606;0|169
N	N	-	11	113660576	113660576	A	G	snp	ncRNA_exonic	 	 	 	 	AP003170.2																		rs1713676	0.42492	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	CLDN25(dist=9369),USP28(dist=8021)	DL492607	ENSG00000255870,ENSG00000256167	Na	Na	Na	Na	Na	Na	Het;A>G	1681;78|76	Hom;A>G	3954;0|135
N	N	-	11	11373960	11373960	C	T	snp	nonsynonymous SNV	G707A	R236H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	CSNK2A3	Csnk2a1	ENSG00000254598	casein kinase 2 alpha 3	chr11:11373489-11374904	This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]	lung cancer	Mice homozygous for the null in the major catalytic subunit die by E11.5 and exhibit defects in neural, cardiac and limb development.		GO:0006468;protein phosphorylation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0016310;phosphorylation;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0045732;positive regulation of protein catabolic process;IDA	GO:0005654;nucleoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSNK2A3				http://www.informatics.jax.org/searchtool/Search.do?query=CSNK2A3&submit=Quick%0D%20069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSNK2A3	rs2071461	0.625	0	0.7044	0.14	1	7	exonic	exonic	exonic	CSNK2A3	CSNK2A3	ENSG00000254598	nonsynonymous SNV	nonsynonymous SNV	unknown	CSNK2A3:NM_001256686:exon1:c.G707A:p.R236H,	CSNK2A3:uc001mjp.4:exon1:c.G707A:p.R236H,	UNKNOWN	Het;C>T	2723;143|131	Hom;C>T	6444;2|229
N	N	-	11	113848273	113848273	A	T	snp	UTR5	-4A>T	 	 	 	HTR3A	Htr3a	ENSG00000166736	5-hydroxytryptamine receptor 3A	chr11:113845603-113861035	The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	fibromyalgia; schizophrenia; bipolar disorder; null; Type 2 Diabetes| edema | rosiglitazone; depression drug hypersensitivity; migraine ; bipolar affective disorder; clozapine, response to; depressive disorder, major; clozapine response; Nausea|Pregnancy Complications; nausea; Schizophrenia; schizophrenia; brain activity; depression; Alcoholism; hormone disturbance; harm avoidance; Weight Gain; eating disorders; Sleep Apnea, Obstructive; Nausea; Dyspepsia; Hypercholesterolemia|LDLC levels; major depressive disorder; Substance Withdrawal Syndrome; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; obsessive compulsive disorder; alcohol consumption; nausea; vomiting; Autism; Fatigue|Fatigue Syndrome, Chronic; personality; bipolar disorder; Fatigue Syndrome, Chronic; several psychiatric disorders; Bulimia	Homozygous mice display a decreased lifespan, cachexia, increased blood urea nitrogen, proteinuria, kidney inflammation, and a hyperdistended and neurogenic urinary bladder. Mice homozygous for a second null mutation display reduced chemical pain persistence responses but are otherwise healthy.	Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007210;serotonin receptor signaling pathway;IBA|GO:0032414;positive regulation of ion transmembrane transporter activity;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0042220;response to cocaine;IEA|GO:0045471;response to ethanol;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0032154;cleavage furrow;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1904602;serotonin-activated cation-selective channel complex;IDA	GO:0004993;G-protein coupled serotonin receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;IEA|GO:0022848;acetylcholine-gated cation-selective channel activity;IEA|GO:0022850;serotonin-gated cation-selective channel activity;IDA|GO:0051378;serotonin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3A			https://www.ncbi.nlm.nih.gov/omim/?term=182139	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3A&submit=Quick%0D%11853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3A	rs1985242	0.554513	0.5780	0.6442	1	0	0	UTR5	UTR5	UTR5	HTR3A(NM_001161772:c.-4A>T)	HTR3A(uc010rxc.2:c.-4A>T)	ENSG00000166736(ENST00000299961:c.-4A>T)	Na	Na	Na	Na	Na	Na	Het;A>T	699;47|38	Hom;A>T	1138;0|42
N	N	-	11	113850140	113850140	G	A	snp	intronic	 	 	 	 	HTR3A	Htr3a	ENSG00000166736	5-hydroxytryptamine receptor 3A	chr11:113845603-113861035	The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	fibromyalgia; schizophrenia; bipolar disorder; null; Type 2 Diabetes| edema | rosiglitazone; depression drug hypersensitivity; migraine ; bipolar affective disorder; clozapine, response to; depressive disorder, major; clozapine response; Nausea|Pregnancy Complications; nausea; Schizophrenia; schizophrenia; brain activity; depression; Alcoholism; hormone disturbance; harm avoidance; Weight Gain; eating disorders; Sleep Apnea, Obstructive; Nausea; Dyspepsia; Hypercholesterolemia|LDLC levels; major depressive disorder; Substance Withdrawal Syndrome; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; obsessive compulsive disorder; alcohol consumption; nausea; vomiting; Autism; Fatigue|Fatigue Syndrome, Chronic; personality; bipolar disorder; Fatigue Syndrome, Chronic; several psychiatric disorders; Bulimia	Homozygous mice display a decreased lifespan, cachexia, increased blood urea nitrogen, proteinuria, kidney inflammation, and a hyperdistended and neurogenic urinary bladder. Mice homozygous for a second null mutation display reduced chemical pain persistence responses but are otherwise healthy.	Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007210;serotonin receptor signaling pathway;IBA|GO:0032414;positive regulation of ion transmembrane transporter activity;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0042220;response to cocaine;IEA|GO:0045471;response to ethanol;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0032154;cleavage furrow;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1904602;serotonin-activated cation-selective channel complex;IDA	GO:0004993;G-protein coupled serotonin receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;IEA|GO:0022848;acetylcholine-gated cation-selective channel activity;IEA|GO:0022850;serotonin-gated cation-selective channel activity;IDA|GO:0051378;serotonin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3A			https://www.ncbi.nlm.nih.gov/omim/?term=182139	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3A&submit=Quick%0D%11853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3A	rs2276302	0.69988	0	0	1	0	0	intronic	intronic	intronic	HTR3A	HTR3A	ENSG00000166736	Na	Na	Na	Na	Na	Na	Het;G>A	186;6|7	Hom;G>A	149;0|5
N	N	-	11	113856681	113856681	G	T	snp	intronic	 	 	 	 	HTR3A	Htr3a	ENSG00000166736	5-hydroxytryptamine receptor 3A	chr11:113845603-113861035	The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	fibromyalgia; schizophrenia; bipolar disorder; null; Type 2 Diabetes| edema | rosiglitazone; depression drug hypersensitivity; migraine ; bipolar affective disorder; clozapine, response to; depressive disorder, major; clozapine response; Nausea|Pregnancy Complications; nausea; Schizophrenia; schizophrenia; brain activity; depression; Alcoholism; hormone disturbance; harm avoidance; Weight Gain; eating disorders; Sleep Apnea, Obstructive; Nausea; Dyspepsia; Hypercholesterolemia|LDLC levels; major depressive disorder; Substance Withdrawal Syndrome; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; obsessive compulsive disorder; alcohol consumption; nausea; vomiting; Autism; Fatigue|Fatigue Syndrome, Chronic; personality; bipolar disorder; Fatigue Syndrome, Chronic; several psychiatric disorders; Bulimia	Homozygous mice display a decreased lifespan, cachexia, increased blood urea nitrogen, proteinuria, kidney inflammation, and a hyperdistended and neurogenic urinary bladder. Mice homozygous for a second null mutation display reduced chemical pain persistence responses but are otherwise healthy.	Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007210;serotonin receptor signaling pathway;IBA|GO:0032414;positive regulation of ion transmembrane transporter activity;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0042220;response to cocaine;IEA|GO:0045471;response to ethanol;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0032154;cleavage furrow;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1904602;serotonin-activated cation-selective channel complex;IDA	GO:0004993;G-protein coupled serotonin receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;IEA|GO:0022848;acetylcholine-gated cation-selective channel activity;IEA|GO:0022850;serotonin-gated cation-selective channel activity;IDA|GO:0051378;serotonin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3A			https://www.ncbi.nlm.nih.gov/omim/?term=182139	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3A&submit=Quick%0D%11853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3A	rs10160548	0.511382	0	0	1	0	0	intronic	intronic	intronic	HTR3A	HTR3A	ENSG00000166736	Na	Na	Na	Na	Na	Na	Het;G>T	499;14|21	Hom;G>T	692;0|22
N	N	-	11	11398698	11398698	G	A	snp	intronic	 	 	 	 	GALNT18	Galnt18	ENSG00000110328	polypeptide N-acetylgalactosaminyltransferase 18	chr11:11292423-11643552		Leukocyte Count; Tobacco Use Disorder; Body Composition; Body Mass Index; prostate cancer; Potassium; Arthritis, Rheumatoid; Celiac Disease|	 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT18	https://www.uniprot.org/uniprot/Q6P9A2		https://www.ncbi.nlm.nih.gov/omim/?term=615136	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT18&submit=Quick%0D%3950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT18	rs10444245	0.659345	0.8179	0.7523	1	0	0	intronic	intronic	intronic	GALNT18	GALNT18	ENSG00000110328	Na	Na	Na	Na	Na	Na	Het;G>A	193;6|8	Hom;G>A	327;0|13
N	N	-	11	114270604	114270604	C	A	snp	UTR3	*78G>T	 	 	 	C11orf71	Gm5617	ENSG00000180425	chromosome 11 open reading frame 71	chr11:114262165-114271139			Male mice homozygous for a mutation are viable and show normal fertility.					http://www.genecards.org/index.php?path=/Search/keyword/C11orf71				http://www.informatics.jax.org/searchtool/Search.do?query=C11orf71&submit=Quick%0D%14479ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf71	rs3741302	0.395567	0	0	1	0	0	UTR3	UTR3	intronic	C11orf71(NM_001271562:c.*78G>T)	C11orf71(uc001pou.5:c.*78G>T)	ENSG00000180425	Na	Na	Na	Na	Na	Na	Het;C>A	284;12|10	Hom;C>A	690;0|19
N	N	-	11	114273673	114273673	A	G	snp	intronic	 	 	 	 	RBM7	Rbm7	ENSG00000076053	RNA binding motif protein 7	chr11:114270752-114284925			 		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0051321;meiotic cell cycle;IEA	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003727;single-stranded RNA binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBM7	https://www.uniprot.org/uniprot/Q9Y580		https://www.ncbi.nlm.nih.gov/omim/?term=612413	http://www.informatics.jax.org/searchtool/Search.do?query=RBM7&submit=Quick%0D%1573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM7	rs17547494	0.104034	0.1361	0.1454	1	0	0	intronic	intronic	intronic	RBM7	RBM7	ENSG00000076053,ENSG00000255663	Na	Na	Na	Na	Na	Na	Het;A>G	835;26|37	Hom;A>G	2319;0|81
N	N	-	11	114310469	114310469	T	C	snp	intronic	 	 	 	 	REXO2	Rexo2	ENSG00000076043	RNA exonuclease 2	chr11:114310108-114321001	This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006139;nucleobase-containing compound metabolic process;IDA|GO:0009117;nucleotide metabolic process;TAS|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005925;focal adhesion;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008408;3'-5' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/REXO2	https://www.uniprot.org/uniprot/Q9Y3B8		https://www.ncbi.nlm.nih.gov/omim/?term=607149	http://www.informatics.jax.org/searchtool/Search.do?query=REXO2&submit=Quick%0D%1572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=REXO2	rs476200	0.605032	0	0	1	0	0	intronic	intronic	intronic	REXO2	REXO2	ENSG00000076043,ENSG00000255663	Na	Na	Na	Na	Na	Na	Het;T>C	453;23|22	Hom;T>C	662;0|24
N	N	-	11	114315188	114315188	A	G	snp	UTR5	-36A>G	 	 	 	REXO2	Rexo2	ENSG00000076043	RNA exonuclease 2	chr11:114310108-114321001	This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006139;nucleobase-containing compound metabolic process;IDA|GO:0009117;nucleotide metabolic process;TAS|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005925;focal adhesion;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008408;3'-5' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/REXO2	https://www.uniprot.org/uniprot/Q9Y3B8		https://www.ncbi.nlm.nih.gov/omim/?term=607149	http://www.informatics.jax.org/searchtool/Search.do?query=REXO2&submit=Quick%0D%1572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=REXO2	rs540712	0.652356	0	0.5715	1	0	0	intronic	intronic	UTR5	REXO2	REXO2	ENSG00000076043(ENST00000538791:c.-36A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	389;9|18	Hom;A>G	467;0|15
N	N	-	11	114324183	114324183	A	G	snp	ncRNA_exonic	 	 	 	 	AP002373.2																		rs478937	0.322284	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	REXO2(dist=3183),NXPE1(dist=68254)	REXO2(dist=3183),NXPE1(dist=68254)	ENSG00000256533	Na	Na	Na	Na	Na	Na	Het;A>G	48;2|3	Hom;A>G	252;0|10
N	N	-	11	114398627	114398628	CA	C	indel	intronic	 	 	 	 	NXPE1	 	ENSG00000095110	neurexophilin and PC-esterase domain family member 1	chr11:114392437-114430617		Myocardial Infarction; Colitis, Ulcerative; Cholesterol, LDL	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NXPE1	https://www.uniprot.org/uniprot/Q8N323			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE1&submit=Quick%0D%2235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE1	rs35058533	0.240016	0	0.1855	1	0	0	intronic	intronic	intronic	NXPE1	NXPE1	ENSG00000095110	Na	Na	Na	Na	Na	Na	Het;-A	383;14|21	Hom;-A	536;0|23
N	N	-	11	114401247	114401247	A	G	snp	synonymous SNV	T57C	N19N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NXPE1	 	ENSG00000095110	neurexophilin and PC-esterase domain family member 1	chr11:114392437-114430617		Myocardial Infarction; Colitis, Ulcerative; Cholesterol, LDL	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NXPE1	https://www.uniprot.org/uniprot/Q8N323			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE1&submit=Quick%0D%2235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE1	rs7941796	0.259784	0.2624	0.1759	1	0	0	exonic	exonic	exonic	NXPE1	NXPE1	ENSG00000095110	synonymous SNV	synonymous SNV	unknown	NXPE1:NM_152315:exon3:c.T57C:p.N19N,	NXPE1:uc001ppa.3:exon3:c.T57C:p.N19N,NXPE1:uc001ppb.1:exon6:c.T483C:p.N161N,	UNKNOWN	Het;A>G	312;22|12	Hom;A>G	1382;0|41
N	N	-	11	114401283	114401283	C	T	snp	synonymous SNV	G21A	T7T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NXPE1	 	ENSG00000095110	neurexophilin and PC-esterase domain family member 1	chr11:114392437-114430617		Myocardial Infarction; Colitis, Ulcerative; Cholesterol, LDL	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NXPE1	https://www.uniprot.org/uniprot/Q8N323			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE1&submit=Quick%0D%2235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE1	rs7941923	0.240415	0.2377	0.1692	1	0	0	exonic	exonic	exonic	NXPE1	NXPE1	ENSG00000095110	synonymous SNV	synonymous SNV	unknown	NXPE1:NM_152315:exon3:c.G21A:p.T7T,	NXPE1:uc001ppa.3:exon3:c.G21A:p.T7T,NXPE1:uc001ppb.1:exon6:c.G447A:p.T149T,	UNKNOWN	Het;C>T	74;10|4	Hom;C>T	635;0|20
N	N	-	11	114401611	114401611	A	G	snp	nonsynonymous SNV	T119C	L40S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	NXPE1	 	ENSG00000095110	neurexophilin and PC-esterase domain family member 1	chr11:114392437-114430617		Myocardial Infarction; Colitis, Ulcerative; Cholesterol, LDL	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NXPE1	https://www.uniprot.org/uniprot/Q8N323			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE1&submit=Quick%0D%2235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE1	rs7944960	0.238818	0	0.1699	0.09	1	11	UTR5	exonic	exonic	NXPE1(NM_152315:c.-308T>C)	NXPE1	ENSG00000095110	Na	nonsynonymous SNV	unknown	Na	NXPE1:uc001ppb.1:exon6:c.T119C:p.L40S,	UNKNOWN	Het;A>G	707;34|36	Hom;A>G	1922;0|69
N	N	-	11	114441936	114441936	A	G	snp	synonymous SNV	T1359C	N453N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NXPE4	Nxpe4	ENSG00000137634	neurexophilin and PC-esterase domain family member 4	chr11:114441313-114466484		Myocardial Infarction; Hemoglobins; Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/NXPE4	https://www.uniprot.org/uniprot/Q6UWF7			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE4&submit=Quick%0D%7570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE4	rs12421748	0.103035	0.1021	0.1307	1	0	0	exonic	exonic	exonic	NXPE4	NXPE4	ENSG00000137634	synonymous SNV	synonymous SNV	unknown	NXPE4:NM_017678:exon6:c.T507C:p.N169N,NXPE4:NM_001077639:exon6:c.T1359C:p.N453N,	NXPE4:uc001ppc.3:exon6:c.T1359C:p.N453N,NXPE4:uc001ppd.3:exon6:c.T507C:p.N169N,	UNKNOWN	Het;A>G	1021;63|48	Hom;A>G	2843;0|102
N	N	-	11	114442103	114442103	A	G	snp	nonsynonymous SNV	T340C	Y114H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	NXPE4	Nxpe4	ENSG00000137634	neurexophilin and PC-esterase domain family member 4	chr11:114441313-114466484		Myocardial Infarction; Hemoglobins; Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/NXPE4	https://www.uniprot.org/uniprot/Q6UWF7			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE4&submit=Quick%0D%7570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE4	rs550897	0.653954	0.5983	0.5404	0.23	3	13	exonic	exonic	exonic	NXPE4	NXPE4	ENSG00000137634	nonsynonymous SNV	nonsynonymous SNV	unknown	NXPE4:NM_017678:exon6:c.T340C:p.Y114H,NXPE4:NM_001077639:exon6:c.T1192C:p.Y398H,	NXPE4:uc001ppc.3:exon6:c.T1192C:p.Y398H,NXPE4:uc001ppd.3:exon6:c.T340C:p.Y114H,	UNKNOWN	Het;A>G	1440;27|62	Hom;A>G	3277;0|113
N	N	-	11	114442265	114442265	G	A	snp	intronic	 	 	 	 	NXPE4	Nxpe4	ENSG00000137634	neurexophilin and PC-esterase domain family member 4	chr11:114441313-114466484		Myocardial Infarction; Hemoglobins; Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/NXPE4	https://www.uniprot.org/uniprot/Q6UWF7			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE4&submit=Quick%0D%7570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE4	rs481080	0.653754	0	0	1	0	0	intronic	intronic	intronic	NXPE4	NXPE4	ENSG00000137634	Na	Na	Na	Na	Na	Na	Het;G>A	260;10|12	Hom;G>A	549;0|18
N	N	-	11	114465526	114465526	A	T	snp	intronic	 	 	 	 	NXPE4	Nxpe4	ENSG00000137634	neurexophilin and PC-esterase domain family member 4	chr11:114441313-114466484		Myocardial Infarction; Hemoglobins; Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/NXPE4	https://www.uniprot.org/uniprot/Q6UWF7			http://www.informatics.jax.org/searchtool/Search.do?query=NXPE4&submit=Quick%0D%7570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE4	rs78608548	0.121805	0.1673	0.1854	1	0	0	intronic	intronic	intronic	NXPE4	NXPE4	ENSG00000137634	Na	Na	Na	Na	Na	Na	Het;A>T	61;8|4	Hom;A>T	585;0|21
N	N	-	11	114550320	114550320	C	T	snp	intronic	 	 	 	 	NXPE2	Nxpe2	ENSG00000204361	neurexophilin and PC-esterase domain family member 2	chr11:114549108-114579362		Albuminuria; urinary albumin excretion; Albumins; Blood Pressure; Insulin; Body Weight; Waist-Hip Ratio	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NXPE2				http://www.informatics.jax.org/searchtool/Search.do?query=NXPE2&submit=Quick%0D%17272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE2	rs17550338	0.109625	0	0	1	0	0	intronic	intronic	intronic	NXPE2	NXPE2	ENSG00000204361	Na	Na	Na	Na	Na	Na	Het;C>T	261;15|13	Hom;C>T	1142;0|26
N	N	-	11	114576626	114576626	A	T	snp	nonsynonymous SNV	A1052T	N351I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	NXPE2	Nxpe2	ENSG00000204361	neurexophilin and PC-esterase domain family member 2	chr11:114549108-114579362		Albuminuria; urinary albumin excretion; Albumins; Blood Pressure; Insulin; Body Weight; Waist-Hip Ratio	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NXPE2				http://www.informatics.jax.org/searchtool/Search.do?query=NXPE2&submit=Quick%0D%17272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE2	rs1356428	0.304912	0.2928	0.3631	0.08	1	13	exonic	exonic	exonic	NXPE2	NXPE2	ENSG00000204361	nonsynonymous SNV	nonsynonymous SNV	unknown	NXPE2:NM_182495:exon5:c.A1052T:p.N351I,	NXPE2:uc009yyy.2:exon5:c.A1052T:p.N351I,	UNKNOWN	Het;A>T	860;26|39	Hom;A>T	1910;0|70
N	N	-	11	115049311	115049311	A	G	snp	intronic	 	 	 	 	CADM1	Cadm1	ENSG00000182985	cell adhesion molecule 1	chr11:115039938-115375675		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipids; Narcolepsy; Respiratory Function Tests; Crohn Disease|Crohn's disease	Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation.	Nectin/Necl  trans heterodimerization	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008037;cell recognition;IDA|GO:0030154;cell differentiation;IEA|GO:0034332;adherens junction organization;TAS|GO:0042271;susceptibility to natural killer cell mediated cytotoxicity;IDA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IDA|GO:0050715;positive regulation of cytokine secretion;IDA|GO:0051606;detection of stimulus;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005911;cell-cell junction;ISS|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;ISS|GO:0042803;protein homodimerization activity;ISS|GO:0050839;cell adhesion molecule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CADM1			https://www.ncbi.nlm.nih.gov/omim/?term=605686	http://www.informatics.jax.org/searchtool/Search.do?query=CADM1&submit=Quick%0D%14895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CADM1	rs11215399	0.198682	0	0	1	0	0	intronic	intronic	intronic	CADM1	CADM1	ENSG00000182985	Na	Na	Na	Na	Na	Na	Het;A>G	630;30|30	Hom;A>G	1512;0|53
N	N	-	11	11520431	11520431	G	A	snp	intronic	 	 	 	 	GALNT18	Galnt18	ENSG00000110328	polypeptide N-acetylgalactosaminyltransferase 18	chr11:11292423-11643552		Leukocyte Count; Tobacco Use Disorder; Body Composition; Body Mass Index; prostate cancer; Potassium; Arthritis, Rheumatoid; Celiac Disease|	 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT18	https://www.uniprot.org/uniprot/Q6P9A2		https://www.ncbi.nlm.nih.gov/omim/?term=615136	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT18&submit=Quick%0D%3950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT18	rs78707164	0.119409	0	0	1	0	0	intronic	intronic	intronic	GALNT18	GALNT18	ENSG00000110328	Na	Na	Na	Na	Na	Na	Het;G>A	548;25|27	Hom;G>A	1673;0|63
N	N	-	11	116629734	116629734	T	TA	indel	intronic	 	 	 	 	BUD13	Bud13	ENSG00000137656	BUD13 homolog	chr11:116618886-116643704		triglycerides; Lipids; Type 2 diabetes; Triglycerides; Cardiovascular Diseases; Metabolic Syndrome X; Fredrickson hyperlipoproteinemia	 		GO:0000398;mRNA splicing, via spliceosome;ISS|GO:0006406;mRNA export from nucleus;ISS	GO:0005634;nucleus;IDA|GO:0070274;RES complex;ISS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BUD13	https://www.uniprot.org/uniprot/Q9BRD0			http://www.informatics.jax.org/searchtool/Search.do?query=BUD13&submit=Quick%0D%7573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BUD13	rs56024416	0	0	0	1	0	0	intronic	intronic	intronic	BUD13	BUD13	ENSG00000137656	Na	Na	Na	Na	Na	Na	Het;+A	304;36|22	Hom;+A	863;7|40
N	N	-	11	116631391	116631391	T	C	snp	UTR3	*21A>G	 	 	 	BUD13	Bud13	ENSG00000137656	BUD13 homolog	chr11:116618886-116643704		triglycerides; Lipids; Type 2 diabetes; Triglycerides; Cardiovascular Diseases; Metabolic Syndrome X; Fredrickson hyperlipoproteinemia	 		GO:0000398;mRNA splicing, via spliceosome;ISS|GO:0006406;mRNA export from nucleus;ISS	GO:0005634;nucleus;IDA|GO:0070274;RES complex;ISS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BUD13	https://www.uniprot.org/uniprot/Q9BRD0			http://www.informatics.jax.org/searchtool/Search.do?query=BUD13&submit=Quick%0D%7573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BUD13	rs3741301	0.257987	0	0.3579	1	0	0	intronic	UTR3	intronic	BUD13	BUD13(uc009yzc.3:c.*21A>G)	ENSG00000137656	Na	Na	Na	Na	Na	Na	Het;T>C	73;3|3	Hom;T>C	216;0|6
N	N	-	11	116631690	116631690	G	A	snp	intronic	 	 	 	 	BUD13	Bud13	ENSG00000137656	BUD13 homolog	chr11:116618886-116643704		triglycerides; Lipids; Type 2 diabetes; Triglycerides; Cardiovascular Diseases; Metabolic Syndrome X; Fredrickson hyperlipoproteinemia	 		GO:0000398;mRNA splicing, via spliceosome;ISS|GO:0006406;mRNA export from nucleus;ISS	GO:0005634;nucleus;IDA|GO:0070274;RES complex;ISS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BUD13	https://www.uniprot.org/uniprot/Q9BRD0			http://www.informatics.jax.org/searchtool/Search.do?query=BUD13&submit=Quick%0D%7573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BUD13	rs3741300	0.277955	0.3619	0.3626	1	0	0	intronic	intronic	intronic	BUD13	BUD13	ENSG00000137656	Na	Na	Na	Na	Na	Na	Het;G>A	525;16|24	Hom;G>A	1149;0|30
N	N	-	11	116643436	116643436	G	T	snp	intronic	 	 	 	 	BUD13	Bud13	ENSG00000137656	BUD13 homolog	chr11:116618886-116643704		triglycerides; Lipids; Type 2 diabetes; Triglycerides; Cardiovascular Diseases; Metabolic Syndrome X; Fredrickson hyperlipoproteinemia	 		GO:0000398;mRNA splicing, via spliceosome;ISS|GO:0006406;mRNA export from nucleus;ISS	GO:0005634;nucleus;IDA|GO:0070274;RES complex;ISS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BUD13	https://www.uniprot.org/uniprot/Q9BRD0			http://www.informatics.jax.org/searchtool/Search.do?query=BUD13&submit=Quick%0D%7573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BUD13	rs656417	0.455671	0	0	1	0	0	intronic	intronic	intronic	BUD13	BUD13	ENSG00000137656	Na	Na	Na	Na	Na	Na	Het;G>T	36;5|3	Hom;G>T	98;0|4
N	N	-	11	116654435	116654435	C	T	snp	intronic	 	 	 	 	ZPR1	Zpr1																	rs603446	0.265176	0	0	1	0	0	intronic	intronic	intronic	ZPR1	ZNF259	ENSG00000109917	Na	Na	Na	Na	Na	Na	Het;C>T	159;3|6	Hom;C>T	274;0|9
N	N	-	11	116691511	116691515	GGACA	G	indel	UTR3	*72_*68delinsC	 	 	 	APOA4	Apoa4	ENSG00000110244	apolipoprotein A4	chr11:116691419-116694022	Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon.  The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles.  Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]	cholesterol; triglycerides; cholesterol, LDL; lipid levels; cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; body mass; lipids; changes in the concentration of apo B- and apo A-I-containing lipoproteins; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; coronary heart disease; plasma HDL-C levels; Type 2 diabetes; hyperuricemia; obesity; lipids; plasma HDL cholesterol (HDL-C) levels; hypertriglyceridemia; BMI- Edema rosiglitazone or pioglitazone; hyperlipidaemia; Type 2 Diabetes| edema | rosiglitazone; Hypertriglyceridemia; cholesterol, HDL; cholesterol, LDL; lathosterol; Alzheimer's Disease; triglycerides; atherosclerosis, coronary; hypertriglyceridemia; Amyotrophic Lateral Sclerosis|; Hyperlipidemia, Familial Combined|Mixed hyperlipidemia; obesity; depression; cerebrovascular disease; restenosis; serum triglyceride level; atherosclerosis and lipid transport; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Thrombophilia|Venous Thrombosis; Cholesterol, total; kidney transplant complications; carotid atherosclerosis; myocardial infarct; Diseases in Twins|Obstetric Labor, Premature; atherosclerosis; Lymphoma, Non-Hodgkin; Brain Ischemia|Hypertension|Osteoporosis|Stroke; lung cancer ; cholesterol; gallstones; bladder cancer; Cardiovascular Diseases|Diabetes mellitus; cholesterol, HDL triglycerides; cholesterol, LDL; lipoproteins; Hyperlipoproteinemia Type IV; chronic obstructive pulmonary disease; LDL cholesterol; lung cancer; cholesterol; lipids; atherosclerosis, coronary; lipoprotein; cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; stroke; carotid artery intima-media thickness; atherosclerosis, coronary; Hyperlipidemias; triglycerides; cholesterol, VLDL; cholesterol cholesterol, HDL triglycerides; choesterol absorption; Coronary Disease|Hyperlipoproteinemia Type II; lipoprotein; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; Myocardial Infarction; triglycerides; diabetes, type 2; Hypercholesterolemia|LDLC levels; HDL cholesterol; cardiovascular; longevity; Recurrence|Venous Thromboembolism; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; cholesterol; cholesterol, HDL; cholesterol, LDL; Coronary Disease; hypercholesterolemia; metabolic syndrome; cholesterol; apoA-IV; apoE; triacylglycerols; patent ductus arteriosus; null; Cardiovascular Diseases|; Coronary Artery Disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Angiopathies|Disease Progression; heart disease, ischemic; Cardiovascular Diseases	Mice homozygous for disruption of this gene have lower HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior.	Amyloid fiber formation	GO:0001523;retinoid metabolic process;TAS|GO:0002227;innate immune response in mucosa;IDA|GO:0006695;cholesterol biosynthetic process;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IDA|GO:0006982;response to lipid hydroperoxide;IDA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0008203;cholesterol metabolic process;IDA|GO:0010873;positive regulation of cholesterol esterification;IDA|GO:0010898;positive regulation of triglyceride catabolic process;IDA|GO:0019430;removal of superoxide radicals;IDA|GO:0030300;regulation of intestinal cholesterol absorption;IEA|GO:0031102;neuron projection regeneration;IBA|GO:0032374;regulation of cholesterol transport;IDA|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034371;chylomicron remodeling;TAS|GO:0034372;very-low-density lipoprotein particle remodeling;IDA|GO:0034375;high-density lipoprotein particle remodeling;IC|GO:0034378;chylomicron assembly;TAS|GO:0034380;high-density lipoprotein particle assembly;IBA|GO:0034445;negative regulation of plasma lipoprotein oxidation;IDA|GO:0035634;response to stilbenoid;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0043691;reverse cholesterol transport;IDA|GO:0044240;multicellular organismal lipid catabolic process;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045723;positive regulation of fatty acid biosynthetic process;IDA|GO:0046470;phosphatidylcholine metabolic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0055088;lipid homeostasis;IDA|GO:0065005;protein-lipid complex assembly;IMP|GO:0070328;triglyceride homeostasis;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IDA|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005319;lipid transporter activity;TAS|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IMP|GO:0015485;cholesterol binding;IBA|GO:0016209;antioxidant activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0060228;phosphatidylcholine-sterol O-acyltransferase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOA4	https://www.uniprot.org/uniprot/P06727		https://www.ncbi.nlm.nih.gov/omim/?term=107690	http://www.informatics.jax.org/searchtool/Search.do?query=APOA4&submit=Quick%0D%3943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOA4	rs35211609	0.286142	0	0	1	0	0	UTR3	UTR3	UTR3	APOA4(NM_000482:c.*72_*68delinsC)	APOA4(uc001pps.1:c.*72_*68delinsC)	ENSG00000110244(ENST00000357780:c.*72_*68delinsC)	Na	Na	Na	Na	Na	Na	Het;-GACA	236;7|7	Hom;-GACA	143;0|4
N	N	-	11	116692694	116692694	G	A	snp	intronic	 	 	 	 	APOA4	Apoa4	ENSG00000110244	apolipoprotein A4	chr11:116691419-116694022	Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon.  The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles.  Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]	cholesterol; triglycerides; cholesterol, LDL; lipid levels; cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; body mass; lipids; changes in the concentration of apo B- and apo A-I-containing lipoproteins; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; coronary heart disease; plasma HDL-C levels; Type 2 diabetes; hyperuricemia; obesity; lipids; plasma HDL cholesterol (HDL-C) levels; hypertriglyceridemia; BMI- Edema rosiglitazone or pioglitazone; hyperlipidaemia; Type 2 Diabetes| edema | rosiglitazone; Hypertriglyceridemia; cholesterol, HDL; cholesterol, LDL; lathosterol; Alzheimer's Disease; triglycerides; atherosclerosis, coronary; hypertriglyceridemia; Amyotrophic Lateral Sclerosis|; Hyperlipidemia, Familial Combined|Mixed hyperlipidemia; obesity; depression; cerebrovascular disease; restenosis; serum triglyceride level; atherosclerosis and lipid transport; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Thrombophilia|Venous Thrombosis; Cholesterol, total; kidney transplant complications; carotid atherosclerosis; myocardial infarct; Diseases in Twins|Obstetric Labor, Premature; atherosclerosis; Lymphoma, Non-Hodgkin; Brain Ischemia|Hypertension|Osteoporosis|Stroke; lung cancer ; cholesterol; gallstones; bladder cancer; Cardiovascular Diseases|Diabetes mellitus; cholesterol, HDL triglycerides; cholesterol, LDL; lipoproteins; Hyperlipoproteinemia Type IV; chronic obstructive pulmonary disease; LDL cholesterol; lung cancer; cholesterol; lipids; atherosclerosis, coronary; lipoprotein; cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; stroke; carotid artery intima-media thickness; atherosclerosis, coronary; Hyperlipidemias; triglycerides; cholesterol, VLDL; cholesterol cholesterol, HDL triglycerides; choesterol absorption; Coronary Disease|Hyperlipoproteinemia Type II; lipoprotein; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; Myocardial Infarction; triglycerides; diabetes, type 2; Hypercholesterolemia|LDLC levels; HDL cholesterol; cardiovascular; longevity; Recurrence|Venous Thromboembolism; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; cholesterol; cholesterol, HDL; cholesterol, LDL; Coronary Disease; hypercholesterolemia; metabolic syndrome; cholesterol; apoA-IV; apoE; triacylglycerols; patent ductus arteriosus; null; Cardiovascular Diseases|; Coronary Artery Disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Angiopathies|Disease Progression; heart disease, ischemic; Cardiovascular Diseases	Mice homozygous for disruption of this gene have lower HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior.	Amyloid fiber formation	GO:0001523;retinoid metabolic process;TAS|GO:0002227;innate immune response in mucosa;IDA|GO:0006695;cholesterol biosynthetic process;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IDA|GO:0006982;response to lipid hydroperoxide;IDA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0008203;cholesterol metabolic process;IDA|GO:0010873;positive regulation of cholesterol esterification;IDA|GO:0010898;positive regulation of triglyceride catabolic process;IDA|GO:0019430;removal of superoxide radicals;IDA|GO:0030300;regulation of intestinal cholesterol absorption;IEA|GO:0031102;neuron projection regeneration;IBA|GO:0032374;regulation of cholesterol transport;IDA|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034371;chylomicron remodeling;TAS|GO:0034372;very-low-density lipoprotein particle remodeling;IDA|GO:0034375;high-density lipoprotein particle remodeling;IC|GO:0034378;chylomicron assembly;TAS|GO:0034380;high-density lipoprotein particle assembly;IBA|GO:0034445;negative regulation of plasma lipoprotein oxidation;IDA|GO:0035634;response to stilbenoid;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0043691;reverse cholesterol transport;IDA|GO:0044240;multicellular organismal lipid catabolic process;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045723;positive regulation of fatty acid biosynthetic process;IDA|GO:0046470;phosphatidylcholine metabolic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0055088;lipid homeostasis;IDA|GO:0065005;protein-lipid complex assembly;IMP|GO:0070328;triglyceride homeostasis;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IDA|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005319;lipid transporter activity;TAS|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IMP|GO:0015485;cholesterol binding;IBA|GO:0016209;antioxidant activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0060228;phosphatidylcholine-sterol O-acyltransferase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOA4	https://www.uniprot.org/uniprot/P06727		https://www.ncbi.nlm.nih.gov/omim/?term=107690	http://www.informatics.jax.org/searchtool/Search.do?query=APOA4&submit=Quick%0D%3943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOA4	rs5100	0.588658	0	0	1	0	0	intronic	intronic	intronic	APOA4	APOA4	ENSG00000110244	Na	Na	Na	Na	Na	Na	Het;G>A	48;1|3	Hom;G>A	236;0|9
N	N	-	11	116693464	116693464	C	T	snp	synonymous SNV	G87A	T29T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	APOA4	Apoa4	ENSG00000110244	apolipoprotein A4	chr11:116691419-116694022	Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon.  The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles.  Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]	cholesterol; triglycerides; cholesterol, LDL; lipid levels; cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; body mass; lipids; changes in the concentration of apo B- and apo A-I-containing lipoproteins; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; coronary heart disease; plasma HDL-C levels; Type 2 diabetes; hyperuricemia; obesity; lipids; plasma HDL cholesterol (HDL-C) levels; hypertriglyceridemia; BMI- Edema rosiglitazone or pioglitazone; hyperlipidaemia; Type 2 Diabetes| edema | rosiglitazone; Hypertriglyceridemia; cholesterol, HDL; cholesterol, LDL; lathosterol; Alzheimer's Disease; triglycerides; atherosclerosis, coronary; hypertriglyceridemia; Amyotrophic Lateral Sclerosis|; Hyperlipidemia, Familial Combined|Mixed hyperlipidemia; obesity; depression; cerebrovascular disease; restenosis; serum triglyceride level; atherosclerosis and lipid transport; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Thrombophilia|Venous Thrombosis; Cholesterol, total; kidney transplant complications; carotid atherosclerosis; myocardial infarct; Diseases in Twins|Obstetric Labor, Premature; atherosclerosis; Lymphoma, Non-Hodgkin; Brain Ischemia|Hypertension|Osteoporosis|Stroke; lung cancer ; cholesterol; gallstones; bladder cancer; Cardiovascular Diseases|Diabetes mellitus; cholesterol, HDL triglycerides; cholesterol, LDL; lipoproteins; Hyperlipoproteinemia Type IV; chronic obstructive pulmonary disease; LDL cholesterol; lung cancer; cholesterol; lipids; atherosclerosis, coronary; lipoprotein; cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; stroke; carotid artery intima-media thickness; atherosclerosis, coronary; Hyperlipidemias; triglycerides; cholesterol, VLDL; cholesterol cholesterol, HDL triglycerides; choesterol absorption; Coronary Disease|Hyperlipoproteinemia Type II; lipoprotein; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; Myocardial Infarction; triglycerides; diabetes, type 2; Hypercholesterolemia|LDLC levels; HDL cholesterol; cardiovascular; longevity; Recurrence|Venous Thromboembolism; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; cholesterol; cholesterol, HDL; cholesterol, LDL; Coronary Disease; hypercholesterolemia; metabolic syndrome; cholesterol; apoA-IV; apoE; triacylglycerols; patent ductus arteriosus; null; Cardiovascular Diseases|; Coronary Artery Disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Angiopathies|Disease Progression; heart disease, ischemic; Cardiovascular Diseases	Mice homozygous for disruption of this gene have lower HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior.	Amyloid fiber formation	GO:0001523;retinoid metabolic process;TAS|GO:0002227;innate immune response in mucosa;IDA|GO:0006695;cholesterol biosynthetic process;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IDA|GO:0006982;response to lipid hydroperoxide;IDA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0008203;cholesterol metabolic process;IDA|GO:0010873;positive regulation of cholesterol esterification;IDA|GO:0010898;positive regulation of triglyceride catabolic process;IDA|GO:0019430;removal of superoxide radicals;IDA|GO:0030300;regulation of intestinal cholesterol absorption;IEA|GO:0031102;neuron projection regeneration;IBA|GO:0032374;regulation of cholesterol transport;IDA|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034371;chylomicron remodeling;TAS|GO:0034372;very-low-density lipoprotein particle remodeling;IDA|GO:0034375;high-density lipoprotein particle remodeling;IC|GO:0034378;chylomicron assembly;TAS|GO:0034380;high-density lipoprotein particle assembly;IBA|GO:0034445;negative regulation of plasma lipoprotein oxidation;IDA|GO:0035634;response to stilbenoid;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0043691;reverse cholesterol transport;IDA|GO:0044240;multicellular organismal lipid catabolic process;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045723;positive regulation of fatty acid biosynthetic process;IDA|GO:0046470;phosphatidylcholine metabolic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0055088;lipid homeostasis;IDA|GO:0065005;protein-lipid complex assembly;IMP|GO:0070328;triglyceride homeostasis;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IDA|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005319;lipid transporter activity;TAS|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IMP|GO:0015485;cholesterol binding;IBA|GO:0016209;antioxidant activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0060228;phosphatidylcholine-sterol O-acyltransferase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOA4	https://www.uniprot.org/uniprot/P06727		https://www.ncbi.nlm.nih.gov/omim/?term=107690	http://www.informatics.jax.org/searchtool/Search.do?query=APOA4&submit=Quick%0D%3943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOA4	rs5092	0.719848	0.8385	0.7738	1	0	0	exonic	exonic	exonic	APOA4	APOA4	ENSG00000110244	synonymous SNV	synonymous SNV	unknown	APOA4:NM_000482:exon2:c.G87A:p.T29T,	APOA4:uc001pps.1:exon2:c.G87A:p.T29T,	UNKNOWN	Het;C>T	1221;81|63	Hom;C>T	3558;1|135
N	N	-	11	116703671	116703671	G	T	snp	UTR3	*71G>T	 	 	 	APOC3		ENSG00000110245	apolipoprotein C3	chr11:116700422-116703788	Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein.  APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles.  The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes.  The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed.  An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]	triglycerides; hypertension; lipids; hypertension, pregnancy induced preeclampsia; Birth Weight; Metabolic Syndrome X|Obesity, Abdominal; cholesterol; cholesterol, HDL; cholesterol, LDL; triacylglycerol; insulin; lipoproteins; C-peptide; proinsulin; hypoalphalipoproteinemia; diabetic nephropathy; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Myocardial Infarction; restenosis; Hyperlipidemias; glucose tolerance; hyperuricemia; null; Cardiovascular Diseases|; Fatty Liver|Insulin Resistance|Weight Loss; HDL cholesterol; Hypercholesterolemia|LDLC levels; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; obesity; cholesterol; apoA-IV; apoE; triacylglycerols; atherosclerosis; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; lipid metabolism; ischemia; blood pressure, arterial; kidney transplant complications; increased number of circulating VLDL and IDL particles; cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; stroke; carotid artery intima-media thickness; Insulin Resistance; cholesterol; cholesterol, HDL; cholesterol, LDL; hyperlipidemia; atherosclerosis, coronary; lipoprotein; nephropathy, diabetic; heart disease; Recurrence|Venous Thromboembolism; hyperlipidaemia; hypertriglyceridemia; cholesterol, HDL; cholesterol, LDL; apoA1; apoB; cholesterol, HDL; nephropathy in other diseases; retinopathy; atherosclerosis, coronary; hypertriglyceridemia; cholesterol, HDL triglycerides; lipoproteins; triglycerides; insulin; glucose; cholesterol; triglycerides; lipoprotein; myocardial infarct; diabetes, type 2; Cholesterol, total; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Dyslipidemias; triacylglycerol; variation in plasma lipoproteins; atherosclerosis, coronary; Cardiovascular Diseases; diabetes, type 2; hypertension; atherosclerosis; cerebrovascular disease; dyslipemia; glucose tolerance; lipids; atherosclerosis, generalized; fibrinogen; triglyceride; lipid levels; variant insulin response element; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipids; dyslipidemia heart disease, ischemic hypercholesterolemia hypertriglyceridemia; insulin sensitivity; HIV-Associated Lipodystrophy Syndrome; Kidney Failure, Chronic; triglycerides; atherosclerosis, coronary; hypertriglyceridemia; hypercholesterolemia; triglycerides; Hyperlipoproteinemia Type III|Hypertriglyceridemia; intima-media thickness; coronary artery disease; Obesity; plasma HDL cholesterol (HDL-C) levels; Hyperglycemia|Insulin Resistance|Myocardial Infarction|Obesity; atherosclerosis, coronary lipoprotein triglycerides; Metabolic Syndrome X; lipoprotein, LDL; diabetes, type 2; liver disease; familial combined hyperlipidemia; Hypercholesterolemia|Hypertriglyceridemia; Longevity; LDL cholesterol; triglycerides; atherosclerosis, coronary; carotid atherosclerosis; metabolic syndrome | metabolic syndrome; Hepatitis C|Remission, Spontaneous; triglyceride; lipids triglycerides; Plasma Lipid Levels; atherosclerosis, coronary; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone; patent ductus arteriosus; Type 2 diabetes; Biliary calculi|Gallstones; cholesterol cholesterol, HDL triglycerides; coronary heart disease; lipids; lipoproteins; lipids; triglycerides; insulin; lipoproteins; apoB; apoC-III; diabetes, type 2; hypertriglyceridemic waist; Dyslipidemias|HIV Infections|HIV-Associated Lipodystrophy Syndrome; lipid metabolism disorders; hyperlipidemia; Coronary Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; cholesterol; Alzheimer's Disease; insulin; lipids; cholesterol, HDL; triglycerides; lipids; lipoproteins; ApoA5 diabetes, type 2 triglycerides; gallstones; Hypertriglyceridemia; myocardial infarct; carotid artery intima-media thickness; diabetes, type 2; Fredrickson hyperlipoproteinemia; cognitive function and diabetes ; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; myocardial infarct; triglycerides; plasma HDL-C levels; Amyotrophic Lateral Sclerosis|; glucose tolerance; lipid metabolism; diabetes, type 2 lipids triglycerides; Coronary Disease|Hyperlipoproteinemia Type II; Brain Ischemia|Hypertension|Osteoporosis|Stroke; lipoprotein; Alzheimer's disease; triglycerides; atherosclerosis, coronary; lipids; glucose; atherosclerosis; diverse hyperlipidaemic phenotypes; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; atherosclerosis, carotid; cholesterol; lipids; cardiovascular disease; lipid metabolism disorders; metabolic syndrome; insulin; apoB; apoC-III; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; Alzheimer's disease ; metabolic syndrome; cholesterol, HDL; triglycerides; diabetes, type 1; Coronary Artery Disease; apoAI; diabetes, type 2; atherosclerosis, generalized; Diseases in Twins|Obstetric Labor, Premature; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; longevity; cardiovascular risk; vitamin E and carotenoids	Homozygotes for a targeted null mutation exhibit reduced fasted triglyceride levels, increased triglyceride secretion rate, and loss of postprandial and obesity-associated hypertriglyceridemia.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IMP|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0010897;negative regulation of triglyceride catabolic process;IDA|GO:0010903;negative regulation of very-low-density lipoprotein particle remodeling;IC|GO:0010916;negative regulation of very-low-density lipoprotein particle clearance;IDA|GO:0010987;negative regulation of high-density lipoprotein particle clearance;IMP|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IMP|GO:0016042;lipid catabolic process;IEA|GO:0019433;triglyceride catabolic process;IDA|GO:0032489;regulation of Cdc42 protein signal transduction;IDA|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034371;chylomicron remodeling;TAS|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0034378;chylomicron assembly;TAS|GO:0034379;very-low-density lipoprotein particle assembly;TAS|GO:0034382;chylomicron remnant clearance;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0043691;reverse cholesterol transport;IC|GO:0045717;negative regulation of fatty acid biosynthetic process;IDA|GO:0045833;negative regulation of lipid metabolic process;IDA|GO:0048261;negative regulation of receptor-mediated endocytosis;IDA|GO:0050995;negative regulation of lipid catabolic process;IDA|GO:0051005;negative regulation of lipoprotein lipase activity;IDA|GO:0060621;negative regulation of cholesterol import;IMP|GO:0070328;triglyceride homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;TAS|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034363;intermediate-density lipoprotein particle;IDA|GO:0034366;spherical high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA	GO:0005543;phospholipid binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IC|GO:0030234;enzyme regulator activity;IDA|GO:0055102;lipase inhibitor activity;IDA|GO:0070653;high-density lipoprotein particle receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APOC3	https://www.uniprot.org/uniprot/P02656	https://hpo.jax.org/app/browse/search?q=APOC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107720	http://www.informatics.jax.org/searchtool/Search.do?query=APOC3&submit=Quick%0D%3944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOC3	rs4225	0.291334	0	0	1	0	0	UTR3	UTR3	UTR3	APOC3(NM_000040:c.*71G>T)	APOC3(uc001ppt.1:c.*71G>T)	ENSG00000110245(ENST00000227667:c.*71G>T,ENST00000375345:c.*71G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	534;9|21	Hom;G>T	795;0|29
N	N	-	11	116732856	116732856	A	G	snp	intronic	 	 	 	 	SIK3	Sik3	ENSG00000160584	SIK family kinase 3	chr11:116714118-116969153		Pyloric Stenosis, Hypertrophic; Waist-Hip Ratio; Receptors, Transferrin; triglycerides; Alcohol Drinking; Triglycerides; Tobacco Use Disorder; Lipoproteins, LDL	Mice homozygous for a knock-out allele exhibit impaired chondrocyte hypertrophy during development, neonatal lethality and reduced size. Mice homozygous for a gain of function ENU mutation exhibit decreased total wake time, owing to an increase in inherent sleep need.		GO:0006468;protein phosphorylation;IEA		GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIK3		https://hpo.jax.org/app/browse/search?q=SIK3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614776	http://www.informatics.jax.org/searchtool/Search.do?query=SIK3&submit=Quick%0D%10481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIK3	rs484646	0.302716	0	0	1	0	0	intronic	intronic	intronic	SIK3	SIK3	ENSG00000160584	Na	Na	Na	Na	Na	Na	Het;A>G	338;16|16	Hom;A>G	784;0|29
N	N	-	11	116734545	116734545	G	A	snp	UTR5	-126C>T	 	 	 	SIK3	Sik3	ENSG00000160584	SIK family kinase 3	chr11:116714118-116969153		Pyloric Stenosis, Hypertrophic; Waist-Hip Ratio; Receptors, Transferrin; triglycerides; Alcohol Drinking; Triglycerides; Tobacco Use Disorder; Lipoproteins, LDL	Mice homozygous for a knock-out allele exhibit impaired chondrocyte hypertrophy during development, neonatal lethality and reduced size. Mice homozygous for a gain of function ENU mutation exhibit decreased total wake time, owing to an increase in inherent sleep need.		GO:0006468;protein phosphorylation;IEA		GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIK3		https://hpo.jax.org/app/browse/search?q=SIK3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614776	http://www.informatics.jax.org/searchtool/Search.do?query=SIK3&submit=Quick%0D%10481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIK3	rs11216164	0.127196	0.2451	0.2399	1	0	0	intronic	UTR5	intronic	SIK3	SIK3(uc001ppw.3:c.-126C>T)	ENSG00000160584	Na	Na	Na	Na	Na	Na	Het;G>A	1783;69|85	Hom;G>A	3388;0|126
N	N	-	11	117008946	117008946	T	C	snp	ncRNA_exonic	 	 	 	 	AP005018.2																		rs504068	0.519369	0	0	1	0	0	intergenic	downstream	ncRNA_exonic	SIK3(dist=39815),PAFAH1B2(dist=6054)	AB231710,AB231711	ENSG00000254851	Na	Na	Na	Na	Na	Na	Het;T>C	553;31|29	Hom;T>C	1611;1|54
N	N	-	11	117015195	117015195	C	T	snp	intronic	 	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs2735183	0.328275	0	0	1	0	0	intronic	intronic	intronic	PAFAH1B2	PAFAH1B2	ENSG00000168092	Na	Na	Na	Na	Na	Na	Het;C>T	457;33|22	Hom;C>T	1091;0|35
N	N	-	11	117030581	117030581	T	A	snp	intronic	 	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs1871757	0.613818	0	0	1	0	0	intronic	intronic	intronic	PAFAH1B2	PAFAH1B2	ENSG00000168092	Na	Na	Na	Na	Na	Na	Het;T>A	177;6|7	Hom;T>A	173;0|6
N	N	-	11	117030624	117030625	AT	A	indel	intronic	 	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs35139041	0.540335	0	0.6898	1	0	0	intronic	intronic	intronic	PAFAH1B2	PAFAH1B2	ENSG00000168092	Na	Na	Na	Na	Na	Na	Het;-T	234;29|17	Hom;-T	875;2|41
N	N	-	11	117034388	117034394	CAAAAAA	C	indel	intronic	 	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs3057863	0.51278	0	0	1	0	0	intronic	intronic	intronic	PAFAH1B2	PAFAH1B2	ENSG00000168092	Na	Na	Na	Na	Na	Na	Het;-AAAAAA	321;4|9	Hom;-AAAAAA	458;0|11
N	N	-	11	117034729	117034729	T	C	snp	intronic	 	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs10790175	0.470447	0	0	1	0	0	intronic	intronic	intronic	PAFAH1B2	PAFAH1B2	ENSG00000168092	Na	Na	Na	Na	Na	Na	Het;T>C	36;3|2	Hom;T>C	536;0|14
N	N	-	11	117039797	117039797	G	A	snp	UTR3	*1382G>A	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs1060211	0.598842	0	0	1	0	0	UTR3	UTR3	UTR3	PAFAH1B2(NM_002572:c.*1382G>A)	PAFAH1B2(uc001pqe.2:c.*1382G>A)	ENSG00000168092(ENST00000527958:c.*1382G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	606;54|33	Hom;G>A	2120;0|76
N	N	-	11	117040198	117040198	G	GT	indel	UTR3	*1783G>GT	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs397778984	0.328674	0	0	1	0	0	UTR3	UTR3	UTR3	PAFAH1B2(NM_002572:c.*1783G>GT)	PAFAH1B2(uc001pqe.2:c.*1783G>GT)	ENSG00000168092(ENST00000527958:c.*1783G>GT)	Na	Na	Na	Na	Na	Na	Het;+T	4641;147|150	Hom;+T	10808;1|292
N	N	-	11	117042238	117042238	C	T	snp	intronic	 	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs10750103	0.327875	0	0	1	0	0	intronic	intronic	intronic	PAFAH1B2	PAFAH1B2	ENSG00000168092	Na	Na	Na	Na	Na	Na	Het;C>T	216;3|8	Hom;C>T	356;0|13
N	N	-	11	117042580	117042580	G	C	snp	intronic	 	 	 	 	PAFAH1B2	Pafah1b2	ENSG00000168092	platelet activating factor acetylhydrolase 1b catalytic subunit 2	chr11:117014983-117047610	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]	protein quantitative trait loci; Receptors, Transferrin; Protein C Deficiency|Venous Thrombosis; Infection|Inflammation|Premature Birth	Male homozygous null mice exhibit a significant reduction in testis size.  In one allele, abnormal spermatogenesis and male infertility has been reported.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IBA|GO:0016042;lipid catabolic process;IEA|GO:0016239;positive regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS	GO:0001650;fibrillar center;IDA|GO:0005576;extracellular region;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003847;1-alkyl-2-acetylglycerophosphocholine esterase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047179;platelet-activating factor acetyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PAFAH1B2			https://www.ncbi.nlm.nih.gov/omim/?term=602508	http://www.informatics.jax.org/searchtool/Search.do?query=PAFAH1B2&submit=Quick%0D%12195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAFAH1B2	rs10892083	0.200679	0	0	1	0	0	intronic	intronic	intronic	PAFAH1B2	PAFAH1B2	ENSG00000168092	Na	Na	Na	Na	Na	Na	Het;G>C	146;3|5	Hom;G>C	410;0|11
N	N	-	11	117052069	117052074	GTCTCT	G	indel	intronic	 	 	 	 	SIDT2	Sidt2	ENSG00000149577	SID1 transmembrane family member 2	chr11:117049449-117068160		Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells.		GO:0000902;cell morphogenesis;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0009749;response to glucose;IEA|GO:0033227;dsRNA transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003725;double-stranded RNA binding;IEA|GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT2	https://www.uniprot.org/uniprot/Q8NBJ9			http://www.informatics.jax.org/searchtool/Search.do?query=SIDT2&submit=Quick%0D%9257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT2	rs35248926	0.599042	0	0	1	0	0	intronic	intronic	intronic	SIDT2	SIDT2	ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;-TCTCT	518;11|14	Hom;-TCTCT	1583;0|36
N	N	-	11	117053165	117053165	A	G	snp	intronic	 	 	 	 	SIDT2	Sidt2	ENSG00000149577	SID1 transmembrane family member 2	chr11:117049449-117068160		Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells.		GO:0000902;cell morphogenesis;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0009749;response to glucose;IEA|GO:0033227;dsRNA transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003725;double-stranded RNA binding;IEA|GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT2	https://www.uniprot.org/uniprot/Q8NBJ9			http://www.informatics.jax.org/searchtool/Search.do?query=SIDT2&submit=Quick%0D%9257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT2	rs7946257	0.485623	0	0	1	0	0	intronic	intronic	intronic	SIDT2	SIDT2	ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;A>G	253;15|12	Hom;A>G	702;0|24
N	N	-	11	117059347	117059347	C	T	snp	intronic	 	 	 	 	SIDT2	Sidt2	ENSG00000149577	SID1 transmembrane family member 2	chr11:117049449-117068160		Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells.		GO:0000902;cell morphogenesis;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0009749;response to glucose;IEA|GO:0033227;dsRNA transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003725;double-stranded RNA binding;IEA|GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT2	https://www.uniprot.org/uniprot/Q8NBJ9			http://www.informatics.jax.org/searchtool/Search.do?query=SIDT2&submit=Quick%0D%9257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT2	rs90192	0.664537	0	0	1	0	0	intronic	intronic	intronic	SIDT2	SIDT2	ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;C>T	573;21|25	Hom;C>T	1124;1|43
N	N	-	11	117059552	117059552	G	A	snp	intronic	 	 	 	 	SIDT2	Sidt2	ENSG00000149577	SID1 transmembrane family member 2	chr11:117049449-117068160		Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells.		GO:0000902;cell morphogenesis;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0009749;response to glucose;IEA|GO:0033227;dsRNA transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003725;double-stranded RNA binding;IEA|GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT2	https://www.uniprot.org/uniprot/Q8NBJ9			http://www.informatics.jax.org/searchtool/Search.do?query=SIDT2&submit=Quick%0D%9257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT2	rs474339	0.478235	0.6441	0.6377	1	0	0	intronic	intronic	intronic	SIDT2	SIDT2	ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;G>A	1201;71|60	Hom;G>A	2438;3|95
N	N	-	11	117064693	117064693	C	G	snp	intronic	 	 	 	 	SIDT2	Sidt2	ENSG00000149577	SID1 transmembrane family member 2	chr11:117049449-117068160		Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells.		GO:0000902;cell morphogenesis;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0009749;response to glucose;IEA|GO:0033227;dsRNA transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003725;double-stranded RNA binding;IEA|GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT2	https://www.uniprot.org/uniprot/Q8NBJ9			http://www.informatics.jax.org/searchtool/Search.do?query=SIDT2&submit=Quick%0D%9257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT2	rs521171	0.48143	0.6491	0.6480	1	0	0	intronic	intronic	intronic	SIDT2	SIDT2	ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;C>G	1072;64|51	Hom;C>G	1489;1|59
N	N	-	11	117067699	117067699	C	T	snp	UTR3	*917C>T	 	 	 	SIDT2	Sidt2	ENSG00000149577	SID1 transmembrane family member 2	chr11:117049449-117068160		Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells.		GO:0000902;cell morphogenesis;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0009749;response to glucose;IEA|GO:0033227;dsRNA transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003725;double-stranded RNA binding;IEA|GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT2	https://www.uniprot.org/uniprot/Q8NBJ9			http://www.informatics.jax.org/searchtool/Search.do?query=SIDT2&submit=Quick%0D%9257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT2	rs8521	0.474641	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	UTR3	LOC100652768	LOC100652768	ENSG00000149577(ENST00000324225:c.*917C>T,ENST00000431081:c.*917C>T,ENST00000532062:c.*917C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	212;11|9	Hom;C>T	970;0|34
N	N	-	11	117068504	117068504	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100652768																		rs588534	0.629593	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	LOC100652768	LOC100652768	ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;A>G	697;45|34	Hom;A>G	1343;0|51
N	N	-	11	117068977	117068977	A	G	snp	downstream	 	 	 	 	SIDT2	Sidt2	ENSG00000149577	SID1 transmembrane family member 2	chr11:117049449-117068160		Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells.		GO:0000902;cell morphogenesis;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0009749;response to glucose;IEA|GO:0033227;dsRNA transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003725;double-stranded RNA binding;IEA|GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT2	https://www.uniprot.org/uniprot/Q8NBJ9			http://www.informatics.jax.org/searchtool/Search.do?query=SIDT2&submit=Quick%0D%9257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT2	rs474488	0.629193	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	downstream	LOC100652768	LOC100652768	ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;A>G	201;14|9	Hom;A>G	577;0|19
N	N	-	11	117069061	117069061	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100652768																		rs585849	0.487021	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream;downstream	LOC100652768	LOC100652768	ENSG00000149591;ENSG00000149577	Na	Na	Na	Na	Na	Na	Het;A>G	962;61|49	Hom;A>G	1905;0|70
N	N	-	11	117070547	117070550	TGAG	T	indel	splicing	 	 	 	 	TAGLN	Tagln	ENSG00000149591	transgelin	chr11:117070037-117075498	The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	carotid artery stenosis ; prostate cancer; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Triglycerides	Mice homozygous for targeted mutations in this gene are viable, fertile and phenotypically normal.		GO:0007517;muscle organ development;TAS|GO:0030855;epithelial cell differentiation;IDA	GO:0005737;cytoplasm;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAGLN	https://www.uniprot.org/uniprot/Q01995		https://www.ncbi.nlm.nih.gov/omim/?term=600818	http://www.informatics.jax.org/searchtool/Search.do?query=TAGLN&submit=Quick%0D%9259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAGLN	rs10577826	0.478834	0	0	1	0	0	splicing	splicing	splicing	TAGLN	TAGLN	ENSG00000149591	Na	Na	Na	Na	Na	Na	Het;-GAG	1312;54|36	Hom;-GAG	3056;0|69
N	N	-	11	117241760	117241760	T	A	snp	intronic	 	 	 	 	CEP164	Cep164	ENSG00000110274	centrosomal protein 164	chr11:117185273-117283984	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Tunica Media	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0030030;cell projection organization;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016607;nuclear speck;IDA|GO:0097539;ciliary transition fiber;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP164	https://www.uniprot.org/uniprot/Q9UPV0	https://hpo.jax.org/app/browse/search?q=CEP164&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614848	http://www.informatics.jax.org/searchtool/Search.do?query=CEP164&submit=Quick%0D%3945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP164	rs2305826	0.521166	0.5686	0.5285	1	0	0	intronic	intronic	intronic	CEP164	CEP164	ENSG00000110274	Na	Na	Na	Na	Na	Na	Het;T>A	306;4|13	Hom;T>A	441;2|18
N	N	-	11	117258198	117258198	T	C	snp	intronic	 	 	 	 	CEP164	Cep164	ENSG00000110274	centrosomal protein 164	chr11:117185273-117283984	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Tunica Media	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0030030;cell projection organization;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016607;nuclear speck;IDA|GO:0097539;ciliary transition fiber;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP164	https://www.uniprot.org/uniprot/Q9UPV0	https://hpo.jax.org/app/browse/search?q=CEP164&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614848	http://www.informatics.jax.org/searchtool/Search.do?query=CEP164&submit=Quick%0D%3945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP164	rs501776	0.333267	0	0	1	0	0	intronic	intronic	intronic	CEP164	CEP164	ENSG00000110274	Na	Na	Na	Na	Na	Na	Het;T>C	118;2|4	Hom;T>C	264;0|8
N	N	-	11	117266094	117266094	G	A	snp	intronic	 	 	 	 	CEP164	Cep164	ENSG00000110274	centrosomal protein 164	chr11:117185273-117283984	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Tunica Media	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0030030;cell projection organization;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016607;nuclear speck;IDA|GO:0097539;ciliary transition fiber;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP164	https://www.uniprot.org/uniprot/Q9UPV0	https://hpo.jax.org/app/browse/search?q=CEP164&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614848	http://www.informatics.jax.org/searchtool/Search.do?query=CEP164&submit=Quick%0D%3945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP164	rs11216375	0.251997	0	0	1	0	0	intronic	intronic	intronic	CEP164	CEP164	ENSG00000110274	Na	Na	Na	Na	Na	Na	Het;G>A	37;2|2	Hom;G>A	106;0|5
N	N	-	11	117266312	117266312	C	G	snp	nonsynonymous SNV	C2972G	T991S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CEP164	Cep164	ENSG00000110274	centrosomal protein 164	chr11:117185273-117283984	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Tunica Media	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0030030;cell projection organization;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016607;nuclear speck;IDA|GO:0097539;ciliary transition fiber;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP164	https://www.uniprot.org/uniprot/Q9UPV0	https://hpo.jax.org/app/browse/search?q=CEP164&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614848	http://www.informatics.jax.org/searchtool/Search.do?query=CEP164&submit=Quick%0D%3945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP164	rs2305830	0.277955	0.2951	0.2802	0.08	1	13	exonic	exonic	exonic	CEP164	CEP164	ENSG00000110274	nonsynonymous SNV	nonsynonymous SNV	unknown	CEP164:NM_001271933:exon23:c.C2972G:p.T991S,CEP164:NM_014956:exon24:c.C2963G:p.T988S,	CEP164:uc010rxk.1:exon22:c.C2885G:p.T962S,CEP164:uc001prc.3:exon24:c.C2963G:p.T988S,CEP164:uc001prg.1:exon10:c.C1262G:p.T421S,CEP164:uc001prb.4:exon23:c.C2972G:p.T991S,	UNKNOWN	Het;C>G	710;11|34	Hom;C>G	1336;0|45
N	N	-	11	117266648	117266648	G	C	snp	intronic	 	 	 	 	CEP164	Cep164	ENSG00000110274	centrosomal protein 164	chr11:117185273-117283984	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Tunica Media	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0030030;cell projection organization;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016607;nuclear speck;IDA|GO:0097539;ciliary transition fiber;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP164	https://www.uniprot.org/uniprot/Q9UPV0	https://hpo.jax.org/app/browse/search?q=CEP164&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614848	http://www.informatics.jax.org/searchtool/Search.do?query=CEP164&submit=Quick%0D%3945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP164	rs484988	0.331669	0	0	1	0	0	intronic	intronic	intronic	CEP164	CEP164	ENSG00000110274	Na	Na	Na	Na	Na	Na	Het;G>C	66;5|3	Hom;G>C	97;0|3
N	N	-	11	11728339	11728339	G	A	snp	intergenic	 	 	 	 	MIR4299																		rs4243941	0.189097	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4299(dist=50070),MIR8070(dist=76343)	MIR4299(dist=50070),USP47(dist=134631)	ENSG00000266645(dist=50070),ENSG00000268242(dist=18721)	Na	Na	Na	Na	Na	Na	Het;G>A	702;20|31	Hom;G>A	1105;2|40
N	N	-	11	117403235	117403235	G	T	snp	nonsynonymous SNV	C694A	H232N	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	DSCAML1	Dscaml1	ENSG00000177103	DS cell adhesion molecule like 1	chr11:117298489-117688240	The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]	triglycerides; Stroke; Tobacco Use Disorder; Triglycerides; Alcoholism; Cholesterol, HDL	Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.	DSCAM interactions	GO:0001709;cell fate determination;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;NAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IDA|GO:0009953;dorsal/ventral pattern formation;NAS|GO:0048704;embryonic skeletal system morphogenesis;IDA	GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DSCAML1			https://www.ncbi.nlm.nih.gov/omim/?term=611782	http://www.informatics.jax.org/searchtool/Search.do?query=DSCAML1&submit=Quick%0D%13968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAML1	rs3741280	0.452676	0.3227	0.3667	0.17	2	12	exonic	exonic	exonic	DSCAML1	DSCAML1	ENSG00000177103	nonsynonymous SNV	nonsynonymous SNV	unknown	DSCAML1:NM_020693:exon4:c.C694A:p.H232N,	DSCAML1:uc001pri.1:exon4:c.C106A:p.H36N,DSCAML1:uc001prh.1:exon4:c.C694A:p.H232N,	UNKNOWN	Het;G>T	1243;50|57	Hom;G>T	2537;0|97
N	N	-	11	117782638	117782638	A	G	snp	intronic	 	 	 	 	TMPRSS13	Tmprss13	ENSG00000137747	transmembrane protease, serine 13	chr11:117771358-117800174	This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Coronary Disease	Mice homozygous for a knock-out allele are viable and outwardly healthy but exhibit abnormal stratum corneum formation leading to impaired skin barrier function, as measured by the transepidermal fluid loss rate in newborn pups.		GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;NAS|GO:0005044;scavenger receptor activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS13	https://www.uniprot.org/uniprot/Q9BYE2		https://www.ncbi.nlm.nih.gov/omim/?term=610050	http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS13&submit=Quick%0D%7592ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS13	rs2277288	0.274361	0	0	1	0	0	intronic	intronic	intronic	TMPRSS13	TMPRSS13	ENSG00000137747	Na	Na	Na	Na	Na	Na	Het;A>G	351;20|16	Hom;A>G	776;0|27
N	N	-	11	117902620	117902620	A	C	snp	ncRNA_exonic	 	 	 	 	TMPRSS4-AS1		ENSG00000255274		chr11:117886487-117957508						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS4-AS1				http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS4-AS1&submit=Quick%0D%20120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS4-AS1	rs9326250	0.494409	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMPRSS4-AS1	TMPRSS4-AS1	ENSG00000255274	Na	Na	Na	Na	Na	Na	Het;A>C	196;9|9	Hom;A>C	546;0|21
N	N	-	11	117947698	117947698	A	G	snp	ncRNA_intronic	 	 	 	 	TMPRSS4-AS1		ENSG00000255274		chr11:117886487-117957508						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS4-AS1				http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS4-AS1&submit=Quick%0D%20120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS4-AS1	rs620924	0.631789	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TMPRSS4-AS1	TMPRSS4-AS1	ENSG00000255274	Na	Na	Na	Na	Na	Na	Het;A>G	548;20|19	Hom;A>G	1068;0|30
N	N	-	11	118179200	118179200	G	A	snp	intronic	 	 	 	 	CD3E	Cd3e	ENSG00000198851	CD3e molecule	chr11:118175260-118186890	The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]	depression; bronchodilator response; diabetes, type 1; CD3 epsilon locus on chromosome 11; Celiac Disease; Heart Failure; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous null for this mutation lack peripherial T cells and have a block of thymocyte development at the DN3 stage.	PD-1 signaling	GO:0002376;immune system process;IEA|GO:0002669;positive regulation of T cell anergy;IEA|GO:0006461;protein complex assembly;NAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007172;signal complex assembly;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007584;response to nutrient;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010629;negative regulation of gene expression;IMP|GO:0031295;T cell costimulation;TAS|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0042102;positive regulation of T cell proliferation;IMP|GO:0042110;T cell activation;NAS|GO:0042981;regulation of apoptotic process;NAS|GO:0045060;negative thymic T cell selection;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0046641;positive regulation of alpha-beta T cell proliferation;IEA|GO:0046649;lymphocyte activation;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050776;regulation of immune response;TAS|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051260;protein homooligomerization;IMP|GO:0097190;apoptotic signaling pathway;IEA	GO:0001772;immunological synapse;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042101;T cell receptor complex;NAS|GO:0042105;alpha-beta T cell receptor complex;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IPI|GO:0019901;protein kinase binding;NAS|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0042608;T cell receptor binding;NAS|GO:0042803;protein homodimerization activity;IMP|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CD3E		https://hpo.jax.org/app/browse/search?q=CD3E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=186830	http://www.informatics.jax.org/searchtool/Search.do?query=CD3E&submit=Quick%0D%17043ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD3E	rs1599809	0.378195	0.3189	0.3434	1	0	0	intronic	intronic	intronic	CD3E	CD3E	ENSG00000198851	Na	Na	Na	Na	Na	Na	Het;G>A	182;14|11	Hom;G>A	1401;0|32
N	N	-	11	118182829	118182829	T	A	snp	intronic	 	 	 	 	CD3E	Cd3e	ENSG00000198851	CD3e molecule	chr11:118175260-118186890	The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]	depression; bronchodilator response; diabetes, type 1; CD3 epsilon locus on chromosome 11; Celiac Disease; Heart Failure; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous null for this mutation lack peripherial T cells and have a block of thymocyte development at the DN3 stage.	PD-1 signaling	GO:0002376;immune system process;IEA|GO:0002669;positive regulation of T cell anergy;IEA|GO:0006461;protein complex assembly;NAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007172;signal complex assembly;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007584;response to nutrient;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010629;negative regulation of gene expression;IMP|GO:0031295;T cell costimulation;TAS|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0042102;positive regulation of T cell proliferation;IMP|GO:0042110;T cell activation;NAS|GO:0042981;regulation of apoptotic process;NAS|GO:0045060;negative thymic T cell selection;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0046641;positive regulation of alpha-beta T cell proliferation;IEA|GO:0046649;lymphocyte activation;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050776;regulation of immune response;TAS|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051260;protein homooligomerization;IMP|GO:0097190;apoptotic signaling pathway;IEA	GO:0001772;immunological synapse;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042101;T cell receptor complex;NAS|GO:0042105;alpha-beta T cell receptor complex;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IPI|GO:0019901;protein kinase binding;NAS|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0042608;T cell receptor binding;NAS|GO:0042803;protein homodimerization activity;IMP|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CD3E		https://hpo.jax.org/app/browse/search?q=CD3E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=186830	http://www.informatics.jax.org/searchtool/Search.do?query=CD3E&submit=Quick%0D%17043ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD3E	rs1945765	0.378594	0.3244	0.3406	1	0	0	intronic	intronic	intronic	CD3E	CD3E	ENSG00000198851	Na	Na	Na	Na	Na	Na	Het;T>A	1378;87|68	Hom;T>A	3364;2|120
N	N	-	11	119181170	119181170	T	C	snp	synonymous SNV	A1800G	L600L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MCAM	Mcam	ENSG00000076706	melanoma cell adhesion molecule	chr11:119179241-119192231			Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel.		GO:0001525;angiogenesis;IDA|GO:0003094;glomerular filtration;IEP|GO:0007155;cell adhesion;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0061042;vascular wound healing;IEP	GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MCAM	https://www.uniprot.org/uniprot/P43121		https://www.ncbi.nlm.nih.gov/omim/?term=155735	http://www.informatics.jax.org/searchtool/Search.do?query=MCAM&submit=Quick%0D%1593ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCAM	rs2249466	0.748203	0.7257	0.7404	1	0	0	exonic	exonic	exonic	MCAM	MCAM	ENSG00000076706	synonymous SNV	synonymous SNV	unknown	MCAM:NM_006500:exon15:c.A1800G:p.L600L,	MCAM:uc001pwf.3:exon15:c.A1800G:p.L600L,	UNKNOWN	Het;T>C	1090;56|49	Hom;T>C	2192;0|76
N	N	-	11	119181674	119181674	G	C	snp	UTR3	*34C>G	 	 	 	MCAM	Mcam	ENSG00000076706	melanoma cell adhesion molecule	chr11:119179241-119192231			Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel.		GO:0001525;angiogenesis;IDA|GO:0003094;glomerular filtration;IEP|GO:0007155;cell adhesion;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0061042;vascular wound healing;IEP	GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MCAM	https://www.uniprot.org/uniprot/P43121		https://www.ncbi.nlm.nih.gov/omim/?term=155735	http://www.informatics.jax.org/searchtool/Search.do?query=MCAM&submit=Quick%0D%1593ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCAM	rs2510146	0.801118	0	0.7440	1	0	0	intronic	intronic	UTR3	MCAM	MCAM	ENSG00000076706(ENST00000392814:c.*34C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	394;28|17	Hom;G>C	1211;0|39
N	N	-	11	119185133	119185133	C	T	snp	intronic	 	 	 	 	MCAM	Mcam	ENSG00000076706	melanoma cell adhesion molecule	chr11:119179241-119192231			Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel.		GO:0001525;angiogenesis;IDA|GO:0003094;glomerular filtration;IEP|GO:0007155;cell adhesion;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0061042;vascular wound healing;IEP	GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MCAM	https://www.uniprot.org/uniprot/P43121		https://www.ncbi.nlm.nih.gov/omim/?term=155735	http://www.informatics.jax.org/searchtool/Search.do?query=MCAM&submit=Quick%0D%1593ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCAM	rs6589731	0.483626	0	0	1	0	0	intronic	intronic	intronic	MCAM	MCAM	ENSG00000076706	Na	Na	Na	Na	Na	Na	Het;C>T	75;1|3	Hom;C>T	161;0|5
N	N	-	11	119206375	119206375	G	A	snp	synonymous SNV	G543A	T181T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RNF26	Rnf26	ENSG00000173456	ring finger protein 26	chr11:119205237-119208023	The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease; Type 2 Diabetes| edema | rosiglitazone	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF26			https://www.ncbi.nlm.nih.gov/omim/?term=606130	http://www.informatics.jax.org/searchtool/Search.do?query=RNF26&submit=Quick%0D%13361ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF26	rs2511841	0.725639	0.6883	0.7202	1	0	0	exonic	exonic	exonic	RNF26	RNF26	ENSG00000173456	synonymous SNV	synonymous SNV	unknown	RNF26:NM_032015:exon1:c.G543A:p.T181T,	RNF26:uc001pwh.3:exon1:c.G543A:p.T181T,	UNKNOWN	Het;G>A	1696;114|81	Hom;G>A	5941;0|215
N	N	-	11	119214771	119214771	A	G	snp	intronic	 	 	 	 	C1QTNF5	C1qtnf5	ENSG00000223953	C1q and TNF related 5	chr11:119209652-119217383	This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]	Metabolic Syndrome X; Macular Degeneration	Heterozygotes for a knock-in mutation show features of late-onset retinal degeneration, whereas hetero- or homozygotes for the same knock-in generated by a different group lack retinal defects. Homozygous null mice exhibit reduced hepatic steatosis and improved insulin action on a high-fat diet.		GO:0009306;protein secretion;IEA|GO:0048839;inner ear development;IEA|GO:0070206;protein trimerization;IEA	GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030133;transport vesicle;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF5		https://hpo.jax.org/app/browse/search?q=C1QTNF5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608752	http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF5&submit=Quick%0D%18518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF5	rs948413	0.460863	0	0	1	0	0	intronic	intronic	intronic	C1QTNF5,MFRP	MFRP	ENSG00000223953,ENSG00000235718,ENSG00000259159	Na	Na	Na	Na	Na	Na	Het;A>G	343;18|14	Hom;A>G	1181;2|46
N	N	-	11	119214798	119214798	T	C	snp	intronic	 	 	 	 	C1QTNF5	C1qtnf5	ENSG00000223953	C1q and TNF related 5	chr11:119209652-119217383	This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]	Metabolic Syndrome X; Macular Degeneration	Heterozygotes for a knock-in mutation show features of late-onset retinal degeneration, whereas hetero- or homozygotes for the same knock-in generated by a different group lack retinal defects. Homozygous null mice exhibit reduced hepatic steatosis and improved insulin action on a high-fat diet.		GO:0009306;protein secretion;IEA|GO:0048839;inner ear development;IEA|GO:0070206;protein trimerization;IEA	GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030133;transport vesicle;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF5		https://hpo.jax.org/app/browse/search?q=C1QTNF5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608752	http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF5&submit=Quick%0D%18518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF5	rs948414	0.598243	0	0	1	0	0	intronic	intronic	intronic	C1QTNF5,MFRP	MFRP	ENSG00000223953,ENSG00000235718,ENSG00000259159	Na	Na	Na	Na	Na	Na	Het;T>C	183;8|7	Hom;T>C	861;0|24
N	N	-	11	119216504	119216504	C	T	snp	nonsynonymous SNV	G406A	V136M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MFRP	Mfrp	ENSG00000235718	membrane frizzled-related protein	chr11:119209652-119217368	This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]	Hyperopia; Eye Abnormalities|Glaucoma, Angle-Closure; Hyperopia|Microphthalmos|Myopia	Mutations produce mice having small, white retinal spots and progressive photoreceptor degeneration.		GO:0007601;visual perception;IEA|GO:0009790;embryo development;NAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0060041;retina development in camera-type eye;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MFRP		https://hpo.jax.org/app/browse/search?q=MFRP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606227	http://www.informatics.jax.org/searchtool/Search.do?query=MFRP&submit=Quick%0D%19360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFRP	rs3814762	0.182109	0.2464	0.2664	0.08	1	13	exonic	exonic	exonic	MFRP	MFRP	ENSG00000235718,ENSG00000259159	nonsynonymous SNV	nonsynonymous SNV	unknown	MFRP:NM_031433:exon4:c.G406A:p.V136M,	MFRP:uc010rzg.1:exon4:c.G406A:p.V136M,	UNKNOWN	Het;C>T	610;30|34	Hom;C>T	1246;0|48
N	N	-	11	119217254	119217254	C	T	snp	UTR5	-6147G>A	 	 	 	MFRP	Mfrp	ENSG00000235718	membrane frizzled-related protein	chr11:119209652-119217368	This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]	Hyperopia; Eye Abnormalities|Glaucoma, Angle-Closure; Hyperopia|Microphthalmos|Myopia	Mutations produce mice having small, white retinal spots and progressive photoreceptor degeneration.		GO:0007601;visual perception;IEA|GO:0009790;embryo development;NAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0060041;retina development in camera-type eye;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MFRP		https://hpo.jax.org/app/browse/search?q=MFRP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606227	http://www.informatics.jax.org/searchtool/Search.do?query=MFRP&submit=Quick%0D%19360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFRP	rs883247	0.635583	0.5673	0.5951	1	0	0	UTR5	UTR5	UTR5	C1QTNF5(NM_015645:c.-6147G>A),MFRP(NM_031433:c.-31G>A)	MFRP(uc001pwj.2:c.-6147G>A,uc010rzg.1:c.-31G>A)	ENSG00000223953(ENST00000445041:c.-6147G>A),ENSG00000235718(ENST00000555262:c.-31G>A,ENST00000449574:c.-31G>A,ENST00000360167:c.-31G>A),ENSG00000259159(ENST00000530681:c.-31G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	878;35|40	Hom;C>T	2010;0|72
N	N	-	11	119217311	119217311	G	A	snp	UTR5	-6204C>T	 	 	 	MFRP	Mfrp	ENSG00000235718	membrane frizzled-related protein	chr11:119209652-119217368	This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]	Hyperopia; Eye Abnormalities|Glaucoma, Angle-Closure; Hyperopia|Microphthalmos|Myopia	Mutations produce mice having small, white retinal spots and progressive photoreceptor degeneration.		GO:0007601;visual perception;IEA|GO:0009790;embryo development;NAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0060041;retina development in camera-type eye;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MFRP		https://hpo.jax.org/app/browse/search?q=MFRP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606227	http://www.informatics.jax.org/searchtool/Search.do?query=MFRP&submit=Quick%0D%19360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFRP	rs883245	0.583866	0	0	1	0	0	UTR5	UTR5	UTR5	C1QTNF5(NM_015645:c.-6204C>T),MFRP(NM_031433:c.-88C>T)	MFRP(uc001pwj.2:c.-6204C>T,uc010rzg.1:c.-88C>T)	ENSG00000223953(ENST00000445041:c.-6204C>T),ENSG00000235718(ENST00000555262:c.-88C>T,ENST00000449574:c.-88C>T,ENST00000360167:c.-88C>T),ENSG00000259159(ENST00000530681:c.-88C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	586;30|30	Hom;G>A	1430;0|52
N	N	-	11	119227844	119227844	G	C	snp	intronic	 	 	 	 	USP2	Usp2	ENSG00000036672	ubiquitin specific peptidase 2	chr11:119225925-119252436	This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	insulin obesity; Blood Pressure Determination	Mice homozygous for a null mutation display severely reduced male fertility with defects in sperm motility.	Regulation of TP53 Degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0007517;muscle organ development;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032922;circadian regulation of gene expression;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045475;locomotor rhythm;ISS|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0048511;rhythmic process;IEA|GO:0048512;circadian behavior;ISS|GO:0050821;protein stabilization;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005938;cell cortex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030332;cyclin binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP2	https://www.uniprot.org/uniprot/O75604		https://www.ncbi.nlm.nih.gov/omim/?term=604725	http://www.informatics.jax.org/searchtool/Search.do?query=USP2&submit=Quick%0D%785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP2	rs11217253	0.716254	0	0	1	0	0	intronic	intronic	intronic	USP2	USP2	ENSG00000036672	Na	Na	Na	Na	Na	Na	Het;G>C	376;24|18	Hom;G>C	1404;0|49
N	N	-	11	119229033	119229034	AT	A	indel	intronic	 	 	 	 	USP2	Usp2	ENSG00000036672	ubiquitin specific peptidase 2	chr11:119225925-119252436	This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	insulin obesity; Blood Pressure Determination	Mice homozygous for a null mutation display severely reduced male fertility with defects in sperm motility.	Regulation of TP53 Degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0007517;muscle organ development;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032922;circadian regulation of gene expression;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045475;locomotor rhythm;ISS|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0048511;rhythmic process;IEA|GO:0048512;circadian behavior;ISS|GO:0050821;protein stabilization;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005938;cell cortex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030332;cyclin binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP2	https://www.uniprot.org/uniprot/O75604		https://www.ncbi.nlm.nih.gov/omim/?term=604725	http://www.informatics.jax.org/searchtool/Search.do?query=USP2&submit=Quick%0D%785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP2	rs398076285	0.780351	0	0	1	0	0	intronic	intronic	intronic	USP2	USP2	ENSG00000036672	Na	Na	Na	Na	Na	Na	Het;-T	217;15|14	Hom;-T	785;3|37
N	N	-	11	119229374	119229374	T	C	snp	intronic	 	 	 	 	USP2	Usp2	ENSG00000036672	ubiquitin specific peptidase 2	chr11:119225925-119252436	This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	insulin obesity; Blood Pressure Determination	Mice homozygous for a null mutation display severely reduced male fertility with defects in sperm motility.	Regulation of TP53 Degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0007517;muscle organ development;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032922;circadian regulation of gene expression;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045475;locomotor rhythm;ISS|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0048511;rhythmic process;IEA|GO:0048512;circadian behavior;ISS|GO:0050821;protein stabilization;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005938;cell cortex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030332;cyclin binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP2	https://www.uniprot.org/uniprot/O75604		https://www.ncbi.nlm.nih.gov/omim/?term=604725	http://www.informatics.jax.org/searchtool/Search.do?query=USP2&submit=Quick%0D%785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP2	rs7937208	0.805312	0	0	1	0	0	intronic	intronic	intronic	USP2	USP2	ENSG00000036672	Na	Na	Na	Na	Na	Na	Het;T>C	210;3|7	Hom;T>C	173;0|6
N	N	-	11	119229964	119229964	G	A	snp	synonymous SNV	C309T	Y103Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	USP2	Usp2	ENSG00000036672	ubiquitin specific peptidase 2	chr11:119225925-119252436	This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	insulin obesity; Blood Pressure Determination	Mice homozygous for a null mutation display severely reduced male fertility with defects in sperm motility.	Regulation of TP53 Degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0007517;muscle organ development;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032922;circadian regulation of gene expression;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045475;locomotor rhythm;ISS|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0048511;rhythmic process;IEA|GO:0048512;circadian behavior;ISS|GO:0050821;protein stabilization;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005938;cell cortex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030332;cyclin binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP2	https://www.uniprot.org/uniprot/O75604		https://www.ncbi.nlm.nih.gov/omim/?term=604725	http://www.informatics.jax.org/searchtool/Search.do?query=USP2&submit=Quick%0D%785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP2	rs2241646	0.707668	0.6606	0.7144	1	0	0	exonic	exonic	exonic	USP2	USP2	ENSG00000036672	synonymous SNV	synonymous SNV	unknown	USP2:NM_001243759:exon4:c.C309T:p.Y103Y,USP2:NM_004205:exon5:c.C1038T:p.Y346Y,USP2:NM_171997:exon4:c.C411T:p.Y137Y,	USP2:uc001pwn.4:exon4:c.C309T:p.Y103Y,USP2:uc001pwm.4:exon5:c.C1038T:p.Y346Y,USP2:uc001pwl.4:exon4:c.C411T:p.Y137Y,	UNKNOWN	Het;G>A	1035;56|52	Hom;G>A	2625;0|102
N	N	-	11	119244095	119244095	C	T	snp	synonymous SNV	G96A	P32P	hydrophobic,neutral	hydrophobic,neutral	USP2	Usp2	ENSG00000036672	ubiquitin specific peptidase 2	chr11:119225925-119252436	This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	insulin obesity; Blood Pressure Determination	Mice homozygous for a null mutation display severely reduced male fertility with defects in sperm motility.	Regulation of TP53 Degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0007517;muscle organ development;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032922;circadian regulation of gene expression;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045475;locomotor rhythm;ISS|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0048511;rhythmic process;IEA|GO:0048512;circadian behavior;ISS|GO:0050821;protein stabilization;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005938;cell cortex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030332;cyclin binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP2	https://www.uniprot.org/uniprot/O75604		https://www.ncbi.nlm.nih.gov/omim/?term=604725	http://www.informatics.jax.org/searchtool/Search.do?query=USP2&submit=Quick%0D%785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP2	rs587985	0.650958	0.5832	0.6270	1	0	0	exonic	exonic	exonic	USP2	USP2	ENSG00000036672	synonymous SNV	synonymous SNV	unknown	USP2:NM_004205:exon2:c.G96A:p.P32P,	USP2:uc001pwm.4:exon2:c.G96A:p.P32P,	UNKNOWN	Het;C>T	1460;69|73	Hom;C>T	3526;1|128
N	N	-	11	119290034	119290034	G	C	snp	unknown	 	 	 	 	THY1	Thy1	ENSG00000154096	Thy-1 cell surface antigen	chr11:119288090-119295695	This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Blood Pressure Determination; Celiac Disease; diabetes, type 1	Homozygous null mice are viable, fertile, and display no abnormalities in the brain and spinal cord, have normal axonal development and regeneration and no behavioral abnormalities. Long term potentiation is inhibited in the dentate gyrus.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0001525;angiogenesis;IBA|GO:0001952;regulation of cell-matrix adhesion;IMP|GO:0002693;positive regulation of cellular extravasation;IDA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0006501;C-terminal protein lipidation;TAS|GO:0007010;cytoskeleton organization;IBA|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007267;cell-cell signaling;ISS|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0030334;regulation of cell migration;IEA|GO:0030336;negative regulation of cell migration;IBA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IDA|GO:0043113;receptor clustering;ISS|GO:0043547;positive regulation of GTPase activity;ISS|GO:0046549;retinal cone cell development;IBA|GO:0046777;protein autophosphorylation;IEA|GO:0048041;focal adhesion assembly;IBA|GO:0050771;negative regulation of axonogenesis;IBA|GO:0050852;T cell receptor signaling pathway;IBA|GO:0050860;negative regulation of T cell receptor signaling pathway;ISS|GO:0050870;positive regulation of T cell activation;IBA|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IBA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0061099;negative regulation of protein tyrosine kinase activity;ISS|GO:0070571;negative regulation of neuron projection regeneration;ISS|GO:2000298;regulation of Rho-dependent protein serine/threonine kinase activity;ISS	GO:0005576;extracellular region;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030425;dendrite;IBA|GO:0030426;growth cone;ISS|GO:0030673;axolemma;ISS|GO:0031225;anchored component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;IBA|GO:0032590;dendrite membrane;ISS|GO:0032809;neuronal cell body membrane;ISS|GO:0043209;myelin sheath;IBA|GO:0045121;membrane raft;NAS|GO:0046658;anchored component of plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005178;integrin binding;IMP|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019901;protein kinase binding;IBA|GO:0034235;GPI anchor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/THY1	https://www.uniprot.org/uniprot/P04216		https://www.ncbi.nlm.nih.gov/omim/?term=188230	http://www.informatics.jax.org/searchtool/Search.do?query=THY1&submit=Quick%0D%9723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THY1	rs1054735	0.628994	0	0.6861	0.25	2	8	ncRNA_intronic	UTR3	exonic	USP2-AS1	THY1(uc001pwr.3:c.*84C>G)	ENSG00000154096	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>C	212;15|10	Hom;G>C	861;0|27
N	N	-	11	119291480	119291480	G	A	snp	ncRNA_intronic	 	 	 	 	USP2-AS1																		rs3138091	0.631589	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	USP2-AS1	LOC100499227,THY1	ENSG00000245248	Na	Na	Na	Na	Na	Na	Het;G>A	720;17|32	Hom;G>A	1559;0|54
N	N	-	11	119291688	119291688	A	G	snp	ncRNA_intronic	 	 	 	 	USP2-AS1																		rs3751026	0.914137	0.8979	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	USP2-AS1	LOC100499227,THY1	ENSG00000245248	Na	Na	Na	Na	Na	Na	Het;A>G	810;38|34	Hom;A>G	1954;0|67
N	N	-	11	11944265	11944265	A	G	snp	intronic	 	 	 	 	USP47	Usp47	ENSG00000170242	ubiquitin specific peptidase 47	chr11:11862970-11980870		Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome	Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USP47			https://www.ncbi.nlm.nih.gov/omim/?term=614460	http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47	rs72857625	0.115615	0.1255	0.1669	1	0	0	intronic	intronic	intronic	USP47	USP47	ENSG00000170242	Na	Na	Na	Na	Na	Na	Het;A>G	772;45|36	Hom;A>G	2644;1|86
N	N	-	11	11969414	11969414	G	A	snp	intronic	 	 	 	 	USP47	Usp47	ENSG00000170242	ubiquitin specific peptidase 47	chr11:11862970-11980870		Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome	Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USP47			https://www.ncbi.nlm.nih.gov/omim/?term=614460	http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47	rs72857637	0.111022	0	0	1	0	0	intronic	intronic	intronic	USP47	USP47	ENSG00000170242	Na	Na	Na	Na	Na	Na	Het;G>A	304;17|14	Hom;G>A	715;0|26
N	N	-	11	11969971	11969971	G	A	snp	intronic	 	 	 	 	USP47	Usp47	ENSG00000170242	ubiquitin specific peptidase 47	chr11:11862970-11980870		Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome	Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USP47			https://www.ncbi.nlm.nih.gov/omim/?term=614460	http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47	rs72857639	0.111222	0.1226	0	1	0	0	intronic	intronic	intronic	USP47	USP47	ENSG00000170242	Na	Na	Na	Na	Na	Na	Het;G>A	424;20|20	Hom;G>A	1318;0|48
N	N	-	11	11970229	11970229	T	C	snp	intronic	 	 	 	 	USP47	Usp47	ENSG00000170242	ubiquitin specific peptidase 47	chr11:11862970-11980870		Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome	Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USP47			https://www.ncbi.nlm.nih.gov/omim/?term=614460	http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47	rs72857641	0.111422	0	0	1	0	0	intronic	intronic	intronic	USP47	USP47	ENSG00000170242	Na	Na	Na	Na	Na	Na	Het;T>C	133;1|5	Hom;T>C	251;0|8
N	N	-	11	11977573	11977573	T	C	snp	synonymous SNV	T3715C	L1239L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	USP47	Usp47	ENSG00000170242	ubiquitin specific peptidase 47	chr11:11862970-11980870		Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome	Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USP47			https://www.ncbi.nlm.nih.gov/omim/?term=614460	http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47	rs2307073	0.114217	0.1250	0.1527	1	0	0	exonic	exonic	exonic	USP47	USP47	ENSG00000170242	synonymous SNV	synonymous SNV	unknown	USP47:NM_001282659:exon28:c.T3919C:p.L1307L,USP47:NM_017944:exon27:c.T3715C:p.L1239L,	USP47:uc001mjr.3:exon27:c.T3715C:p.L1239L,USP47:uc009ygi.3:exon6:c.T325C:p.L109L,USP47:uc001mjs.3:exon28:c.T3919C:p.L1307L,	UNKNOWN	Het;T>C	445;13|20	Hom;T>C	868;0|33
N	N	-	11	120131851	120131852	GT	G	indel	ncRNA_intronic	 	 	 	 	LOC649133																		rs11306771	0.670327	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC649133	LOC649133	ENSG00000259541	Na	Na	Na	Na	Na	Na	Het;-T	332;16|19	Hom;-T	550;0|24
N	N	-	11	120136078	120136078	G	T	snp	ncRNA_exonic	 	 	 	 	LOC649133																		rs10790372	0.638778	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC649133	LOC649133	ENSG00000259541	Na	Na	Na	Na	Na	Na	Het;G>T	1440;42|39	Hom;G>T	2216;1|53
N	N	-	11	120136084	120136085	GC	G	indel	ncRNA_exonic	 	 	 	 	LOC649133																		rs66471649	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC649133	LOC649133	ENSG00000259541	Na	Na	Na	Na	Na	Na	Het;-C	1521;43|40	Hom;-C	2318;1|55
N	N	-	11	120136108	120136108	G	C	snp	ncRNA_exonic	 	 	 	 	LOC649133																		rs10750169	0.638778	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC649133	LOC649133	ENSG00000259541	Na	Na	Na	Na	Na	Na	Het;G>C	936;50|46	Hom;G>C	1726;1|65
N	N	-	11	122026400	122026400	A	G	snp	ncRNA_intronic	 	 	 	 	MIR100HG																		rs4403812	0.98143	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	MIR100HG	MIR100HG	ENSG00000255090	Na	Na	Na	Na	Na	Na	Het;A>G	136;9|6	Hom;A>G	491;0|17
N	N	-	11	122576973	122576973	G	A	snp	intronic	 	 	 	 	UBASH3B	Ubash3b	ENSG00000154127	ubiquitin associated and SH3 domain containing B	chr11:122526383-122685181	This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]	Behcets disease; Stroke; Waist Circumference; Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77); P-Selectin	Mice homozygous for a knock-out allele are viable, fertile, developmentally normal, and do not display any obvious phenotypic abnormalities.		GO:0006469;negative regulation of protein kinase activity;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0030168;platelet activation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0038065;collagen-activated signaling pathway;IEA|GO:0043393;regulation of protein binding;IEA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045779;negative regulation of bone resorption;IEA|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IEA|GO:0070527;platelet aggregation;IEA|GO:0090331;negative regulation of platelet aggregation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0051219;phosphoprotein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UBASH3B	https://www.uniprot.org/uniprot/Q8TF42		https://www.ncbi.nlm.nih.gov/omim/?term=609201	http://www.informatics.jax.org/searchtool/Search.do?query=UBASH3B&submit=Quick%0D%9730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBASH3B	rs7939482	0.773363	0	0	1	0	0	intronic	intronic	intronic	UBASH3B	UBASH3B	ENSG00000154127	Na	Na	Na	Na	Na	Na	Het;G>A	583;34|31	Hom;G>A	923;0|36
N	N	-	11	12264140	12264140	A	C	snp	intronic	 	 	 	 	MICAL2	Mical2	ENSG00000133816	microtubule associated monooxygenase, calponin and LIM domain containing 2	chr11:12115543-12285334	The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]	Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference	 		GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA	GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MICAL2	https://www.uniprot.org/uniprot/O94851		https://www.ncbi.nlm.nih.gov/omim/?term=608881	http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2	rs880963	0.50639	0	0	1	0	0	intronic	intronic	intronic	MICAL2	MICAL2	ENSG00000133816	Na	Na	Na	Na	Na	Na	Het;A>C	260;19|13	Hom;A>C	1037;0|35
N	N	-	11	122650172	122650172	C	G	snp	intronic	 	 	 	 	UBASH3B	Ubash3b	ENSG00000154127	ubiquitin associated and SH3 domain containing B	chr11:122526383-122685181	This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]	Behcets disease; Stroke; Waist Circumference; Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77); P-Selectin	Mice homozygous for a knock-out allele are viable, fertile, developmentally normal, and do not display any obvious phenotypic abnormalities.		GO:0006469;negative regulation of protein kinase activity;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0030168;platelet activation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0038065;collagen-activated signaling pathway;IEA|GO:0043393;regulation of protein binding;IEA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045779;negative regulation of bone resorption;IEA|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IEA|GO:0070527;platelet aggregation;IEA|GO:0090331;negative regulation of platelet aggregation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0051219;phosphoprotein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UBASH3B	https://www.uniprot.org/uniprot/Q8TF42		https://www.ncbi.nlm.nih.gov/omim/?term=609201	http://www.informatics.jax.org/searchtool/Search.do?query=UBASH3B&submit=Quick%0D%9730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBASH3B	rs4935813	0.733227	0.7260	0.7602	1	0	0	intronic	intronic	intronic	UBASH3B	UBASH3B	ENSG00000154127	Na	Na	Na	Na	Na	Na	Het;C>G	668;13|27	Hom;C>G	917;2|32
N	N	-	11	122738261	122738261	A	G	snp	nonsynonymous SNV	A365G	K122R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CRTAM	Crtam	ENSG00000109943	cytotoxic and regulatory T-cell molecule	chr11:122709208-122743347	The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]		Homozygous null mice have defects in late stage T cell activation that leads to less production of inflammatory cytokines, higher proliferation, and an increase in T cell number with age.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0002250;adaptive immune response;IEA|GO:0002355;detection of tumor cell;IDA|GO:0002376;immune system process;IEA|GO:0002860;positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target;IDA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0008037;cell recognition;IDA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IDA|GO:0050715;positive regulation of cytokine secretion;IDA|GO:0050776;regulation of immune response;TAS|GO:0051606;detection of stimulus;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CRTAM	https://www.uniprot.org/uniprot/O95727		https://www.ncbi.nlm.nih.gov/omim/?term=612597	http://www.informatics.jax.org/searchtool/Search.do?query=CRTAM&submit=Quick%0D%3904ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRTAM	rs2272094	0.550319	0.6215	0.6665	0.15	2	13	exonic	exonic	exonic	CRTAM	CRTAM	ENSG00000109943	nonsynonymous SNV	nonsynonymous SNV	unknown	CRTAM:NM_001304782:exon3:c.A365G:p.K122R,CRTAM:NM_019604:exon8:c.A962G:p.K321R,	CRTAM:uc001pyj.3:exon8:c.A962G:p.K321R,CRTAM:uc001pyk.3:exon3:c.A365G:p.K122R,	UNKNOWN	Het;A>G	1199;75|53	Hom;A>G	3619;0|126
N	N	-	11	124293767	124293767	G	A	snp	downstream	 	 	 	 	ENSG00000198657																		rs2188707	0.629593	0	0	1	0	0	downstream	downstream	downstream	OR8B4	OR8B4	ENSG00000198657	Na	Na	Na	Na	Na	Na	Het;G>A	235;10|9	Hom;G>A	269;0|10
N	N	-	11	124440617	124440617	C	T	snp	nonsynonymous SNV	C653T	S218L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	OR8A1	Olfr160	ENSG00000196119	olfactory receptor family 8 subfamily A member 1	chr11:124439893-124441037	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		Deletion of the coding region causes olfactory sensory neurons to coexpress other odorant receptor (ORs) that function in axonal identity. A drastic reduction in OR protein level causes axonal coalescence into new remote glomeruli. Chimeric ORs and ORs with minor mutations preclude axon outgrowth.	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007411;axon guidance;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR8A1				http://www.informatics.jax.org/searchtool/Search.do?query=OR8A1&submit=Quick%0D%16261ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR8A1	rs12792184	0.772564	0.7507	0.7606	0.15	2	13	exonic	exonic	exonic	OR8A1	OR8A1	ENSG00000196119	nonsynonymous SNV	nonsynonymous SNV	unknown	OR8A1:NM_001005194:exon1:c.C653T:p.S218L,	OR8A1:uc010san.2:exon1:c.C653T:p.S218L,	UNKNOWN	Het;C>T	1441;69|66	Hom;C>T	3228;0|116
N	N	-	11	124739988	124739988	T	C	snp	intronic	 	 	 	 	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs4936957	0.54353	0.6586	0.6086	1	0	0	intronic	intronic	intronic	ROBO3	ROBO3	ENSG00000154134	Na	Na	Na	Na	Na	Na	Het;T>C	2570;133|124	Hom;T>C	6090;0|217
N	N	-	11	124740410	124740410	A	T	snp	intronic	 	 	 	 	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs3923890	0.633387	0	0	1	0	0	intronic	intronic	intronic	ROBO3	ROBO3	ENSG00000154134	Na	Na	Na	Na	Na	Na	Het;A>T	218;9|9	Hom;A>T	641;0|23
N	N	-	11	124740691	124740691	A	G	snp	intronic	 	 	 	 	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs7925879	0.634385	0	0	1	0	0	intronic	intronic	intronic	ROBO3	ROBO3	ENSG00000154134	Na	Na	Na	Na	Na	Na	Het;A>G	750;29|34	Hom;A>G	1581;0|55
N	N	-	11	124742731	124742731	C	T	snp	intronic	 	 	 	 	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs4606490	0.467851	0.6316	0.5680	1	0	0	intronic	intronic	intronic	ROBO3	ROBO3	ENSG00000154134	Na	Na	Na	Na	Na	Na	Het;C>T	212;7|9	Hom;C>T	648;0|22
N	N	-	11	124747333	124747333	A	G	snp	UTR5	-1175A>G	 	 	 	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs10790713	0.236022	0	0	1	0	0	intronic	UTR5	UTR5	ROBO3	ROBO3(uc001qbf.1:c.-1175A>G)	ENSG00000154134(ENST00000543966:c.-2054A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	509;33|21	Hom;A>G	1948;0|58
N	N	-	11	124747837	124747837	G	A	snp	synonymous SNV	G138A	A46A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs7933204	0.631989	0.7288	0.6785	1	0	0	exonic	exonic	exonic	ROBO3	ROBO3	ENSG00000154134	synonymous SNV	synonymous SNV	unknown	ROBO3:NM_022370:exon21:c.G2991A:p.A997A,	ROBO3:uc010sar.2:exon4:c.G138A:p.A46A,ROBO3:uc001qbc.3:exon21:c.G2991A:p.A997A,	UNKNOWN	Het;G>A	737;32|35	Hom;G>A	1535;1|58
N	N	-	11	124750232	124750232	C	T	snp	intronic	 	 	 	 	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs4366494	0.897564	0	0	1	0	0	intronic	intronic	intronic	ROBO3	ROBO3	ENSG00000154134	Na	Na	Na	Na	Na	Na	Het;C>T	82;1|4	Hom;C>T	262;0|9
N	N	-	11	124750447	124750453	CCGGAGT	C	indel	nonframeshift substitution	1239_1245C	 	 	 	ROBO3	Robo3	ENSG00000154134	roundabout guidance receptor 3	chr11:124735282-124751366	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]	Tourette Syndrome; autism	Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ROBO3	https://www.uniprot.org/uniprot/Q96MS0	https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608630	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3	rs56085444	0.420727	0.3412	0.3603	1	0	0	exonic	exonic	exonic	ROBO3	ROBO3	ENSG00000154134	nonframeshift substitution	nonframeshift substitution	unknown	ROBO3:NM_022370:exon27:c.4092_4098C,	ROBO3:uc010sar.2:exon10:c.1239_1245C,ROBO3:uc001qbc.3:exon27:c.4092_4098C,ROBO3:uc001qbe.3:exon8:c.867_873C,ROBO3:uc001qbf.1:exon7:c.744_750C,ROBO3:uc001qbd.2:exon11:c.867_873C,	UNKNOWN	Het;-CGGAGT	975;25|28	Hom;-CGGAGT	2251;2|54
N	N	-	11	124756406	124756406	G	A	snp	synonymous SNV	C1422T	S474S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs7104934	0.234225	0.2272	0.1734	1	0	0	exonic	exonic	exonic	ROBO4	ROBO4	ENSG00000154133	synonymous SNV	synonymous SNV	unknown	ROBO4:NM_019055:exon16:c.C2748T:p.S916S,ROBO4:NM_001301088:exon16:c.C2313T:p.S771S,	ROBO4:uc001qbi.3:exon8:c.C1422T:p.S474S,ROBO4:uc010sas.2:exon16:c.C2313T:p.S771S,ROBO4:uc001qbg.3:exon16:c.C2748T:p.S916S,	UNKNOWN	Het;G>A	1086;65|53	Hom;G>A	2179;2|80
N	N	-	11	124757560	124757560	G	A	snp	ncRNA_intronic	 	 	 	 	AP003501.1																		rs12418548	0.235024	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ROBO4	ROBO4	ENSG00000254568	Na	Na	Na	Na	Na	Na	Het;G>A	290;14|15	Hom;G>A	832;0|29
N	N	-	11	124757815	124757815	A	T	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs59771534	0.243411	0	0	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;A>T	372;11|17	Hom;A>T	621;1|23
N	N	-	11	124763647	124763647	A	G	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs7927528	0.260583	0.2519	0.1806	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;A>G	635;39|29	Hom;A>G	1819;0|64
N	N	-	11	124763989	124763989	G	C	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs7928168	0.261382	0.2517	0.1901	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;G>C	941;29|42	Hom;G>C	1418;0|49
N	N	-	11	124765168	124765168	C	T	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs12421354	0.152955	0	0	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;C>T	223;2|10	Hom;C>T	269;0|10
N	N	-	11	124765182	124765182	T	C	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs12417319	0.279353	0	0	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;T>C	126;3|7	Hom;T>C	242;0|8
N	N	-	11	124765229	124765229	G	C	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs12421677	0.254792	0	0	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;G>C	56;10|3	Hom;G>C	219;0|6
N	N	-	11	124765894	124765894	C	G	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs12421743	0.257588	0	0	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;C>G	256;4|9	Hom;C>G	295;0|8
N	N	-	11	124766128	124766128	A	G	snp	synonymous SNV	T210C	H70H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs4078313	0.495807	0.4496	0.3849	1	0	0	exonic	exonic	exonic	ROBO4	ROBO4	ENSG00000154133	synonymous SNV	synonymous SNV	unknown	ROBO4:NM_019055:exon4:c.T645C:p.H215H,ROBO4:NM_001301088:exon4:c.T210C:p.H70H,	ROBO4:uc010sas.2:exon4:c.T210C:p.H70H,ROBO4:uc001qbh.2:exon3:c.T315C:p.H105H,ROBO4:uc001qbg.3:exon4:c.T645C:p.H215H,	UNKNOWN	Het;A>G	2249;99|102	Hom;A>G	4833;1|170
N	N	-	11	124766591	124766591	C	G	snp	intronic	 	 	 	 	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs4078483	0.636182	0.7450	0.6624	1	0	0	intronic	intronic	intronic	ROBO4	ROBO4	ENSG00000154133	Na	Na	Na	Na	Na	Na	Het;C>G	1371;60|59	Hom;C>G	2621;0|86
N	N	-	11	124767067	124767067	T	C	snp	nonsynonymous SNV	A161G	Q54R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ROBO4	Robo4	ENSG00000154133	roundabout guidance receptor 4	chr11:124753587-124768396		autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome	Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization.		GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS	GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ROBO4	https://www.uniprot.org/uniprot/Q8WZ75		https://www.ncbi.nlm.nih.gov/omim/?term=607528	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4	rs59648931	0.384585	0.3435	0.3467	0.15	2	13	exonic	exonic	exonic	ROBO4	ROBO4	ENSG00000154133	nonsynonymous SNV	nonsynonymous SNV	unknown	ROBO4:NM_019055:exon2:c.A161G:p.Q54R,	ROBO4:uc001qbg.3:exon2:c.A161G:p.Q54R,	UNKNOWN	Het;T>C	1373;49|63	Hom;T>C	2752;0|101
N	N	-	11	124793682	124793682	T	C	snp	nonsynonymous SNV	A652G	M218V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	HEPACAM	Hepacam	ENSG00000165478	hepatic and glial cell adhesion molecule	chr11:124789089-124806308	The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]	Megalencephalic leukoencephalopathy with subcortical cysts 2b remitting with or without mental retardation	Mice homozygous for a null allele display myelin vacuolization that progresses with age.		GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007155;cell adhesion;IEA|GO:0034613;cellular protein localization;IEA|GO:0040008;regulation of growth;IEA	GO:0005737;cytoplasm;IEA|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IDA		http://www.genecards.org/index.php?path=/Search/keyword/HEPACAM		https://hpo.jax.org/app/browse/search?q=HEPACAM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611642	http://www.informatics.jax.org/searchtool/Search.do?query=HEPACAM&submit=Quick%0D%11547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEPACAM	rs10790715	0.79393	0.7519	0.7286	0.08	1	13	exonic	exonic	exonic	HEPACAM	HEPACAM	ENSG00000165478	nonsynonymous SNV	nonsynonymous SNV	unknown	HEPACAM:NM_152722:exon3:c.A652G:p.M218V,	HEPACAM:uc001qbl.1:exon3:c.A652G:p.M218V,HEPACAM:uc001qbk.3:exon3:c.A652G:p.M218V,	UNKNOWN	Het;T>C	1814;72|81	Hom;T>C	4047;0|148
N	N	-	11	124861269	124861269	C	T	snp	intronic	 	 	 	 	CCDC15	Ccdc15	ENSG00000149548	coiled-coil domain containing 15	chr11:124824017-124911385		Tobacco Use Disorder	 			GO:0005813;centrosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC15	https://www.uniprot.org/uniprot/Q0P6D6			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC15&submit=Quick%0D%9250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC15	rs4936967	0.413139	0	0	1	0	0	intronic	intronic	intronic	CCDC15	CCDC15	ENSG00000149548	Na	Na	Na	Na	Na	Na	Het;C>T	292;11|13	Hom;C>T	439;0|15
N	N	-	11	124946817	124946817	C	A	snp	intronic	 	 	 	 	SLC37A2	Slc37a2	ENSG00000134955	solute carrier family 37 member 2	chr11:124932963-124959131			 	Gluconeogenesis	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2	https://www.uniprot.org/uniprot/Q8TED4			http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2	rs12276292	0.310104	0	0	1	0	0	intronic	intronic	intronic	SLC37A2	SLC37A2	ENSG00000134955	Na	Na	Na	Na	Na	Na	Het;C>A	164;6|5	Hom;C>A	292;0|8
N	N	-	11	124946823	124946823	C	T	snp	intronic	 	 	 	 	SLC37A2	Slc37a2	ENSG00000134955	solute carrier family 37 member 2	chr11:124932963-124959131			 	Gluconeogenesis	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2	https://www.uniprot.org/uniprot/Q8TED4			http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2	rs12276295	0.312899	0	0	1	0	0	intronic	intronic	intronic	SLC37A2	SLC37A2	ENSG00000134955	Na	Na	Na	Na	Na	Na	Het;C>T	164;6|5	Hom;C>T	234;0|5
N	N	-	11	124947051	124947051	A	G	snp	intronic	 	 	 	 	SLC37A2	Slc37a2	ENSG00000134955	solute carrier family 37 member 2	chr11:124932963-124959131			 	Gluconeogenesis	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2	https://www.uniprot.org/uniprot/Q8TED4			http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2	rs12289510	0.560304	0	0	1	0	0	intronic	intronic	intronic	SLC37A2	SLC37A2	ENSG00000134955	Na	Na	Na	Na	Na	Na	Het;A>G	173;2|7	Hom;A>G	211;0|8
N	N	-	11	124947149	124947149	G	A	snp	synonymous SNV	G165A	S55S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC37A2	Slc37a2	ENSG00000134955	solute carrier family 37 member 2	chr11:124932963-124959131			 	Gluconeogenesis	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2	https://www.uniprot.org/uniprot/Q8TED4			http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2	rs12276567	0.336861	0.3276	0.2908	1	0	0	exonic	exonic	exonic	SLC37A2	SLC37A2	ENSG00000134955	synonymous SNV	synonymous SNV	unknown	SLC37A2:NM_198277:exon3:c.G165A:p.S55S,SLC37A2:NM_001145290:exon3:c.G165A:p.S55S,	SLC37A2:uc010sau.2:exon3:c.G165A:p.S55S,SLC37A2:uc001qbn.3:exon3:c.G165A:p.S55S,	UNKNOWN	Het;G>A	708;15|32	Hom;G>A	921;0|37
N	N	-	11	124947396	124947396	A	G	snp	nonsynonymous SNV	A286G	I96V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC37A2	Slc37a2	ENSG00000134955	solute carrier family 37 member 2	chr11:124932963-124959131			 	Gluconeogenesis	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2	https://www.uniprot.org/uniprot/Q8TED4			http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2	rs55752830	0.377196	0.3978	0.3542	0.23	3	13	exonic	exonic	exonic	SLC37A2	SLC37A2	ENSG00000134955	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC37A2:NM_198277:exon4:c.A286G:p.I96V,SLC37A2:NM_001145290:exon4:c.A286G:p.I96V,	SLC37A2:uc010sau.2:exon4:c.A286G:p.I96V,SLC37A2:uc001qbn.3:exon4:c.A286G:p.I96V,	UNKNOWN	Het;A>G	1240;51|58	Hom;A>G	2356;0|92
N	N	-	11	125323965	125323965	C	T	snp	intronic	 	 	 	 	FEZ1	Fez1	ENSG00000149557	fasciculation and elongation protein zeta 1	chr11:125315646-125366213	This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]	schizophrenia	Mice homozygous for a null allele exhibit hyperactivity and increased sensitivity to methamphetamine.		GO:0006810;transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;TAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0051654;establishment of mitochondrion localization;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1902902;negative regulation of autophagosome assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA	GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FEZ1	https://www.uniprot.org/uniprot/Q99689		https://www.ncbi.nlm.nih.gov/omim/?term=604825	http://www.informatics.jax.org/searchtool/Search.do?query=FEZ1&submit=Quick%0D%9252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FEZ1	rs11220082	0.48103	0.4849	0	1	0	0	intronic	intronic	intronic	FEZ1	FEZ1	ENSG00000149557	Na	Na	Na	Na	Na	Na	Het;C>T	671;23|31	Hom;C>T	1146;0|46
N	N	-	11	125326026	125326026	C	T	snp	intronic	 	 	 	 	FEZ1	Fez1	ENSG00000149557	fasciculation and elongation protein zeta 1	chr11:125315646-125366213	This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]	schizophrenia	Mice homozygous for a null allele exhibit hyperactivity and increased sensitivity to methamphetamine.		GO:0006810;transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;TAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0051654;establishment of mitochondrion localization;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1902902;negative regulation of autophagosome assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA	GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FEZ1	https://www.uniprot.org/uniprot/Q99689		https://www.ncbi.nlm.nih.gov/omim/?term=604825	http://www.informatics.jax.org/searchtool/Search.do?query=FEZ1&submit=Quick%0D%9252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FEZ1	rs2241514	0.338658	0.3524	0.3576	1	0	0	intronic	intronic	intronic	FEZ1	FEZ1	ENSG00000149557	Na	Na	Na	Na	Na	Na	Het;C>T	987;29|45	Hom;C>T	1900;0|75
N	N	-	11	12535485	12535501	CACAGGCTCCTGCACTA	C	indel	intronic	 	 	 	 	PARVA	Parva	ENSG00000197702	parvin alpha	chr11:12398732-12552348	This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010]	Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries	Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis.	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA	GO:0003779;actin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARVA			https://www.ncbi.nlm.nih.gov/omim/?term=608120	http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA	rs56043920	0.524561	0	0	1	0	0	intronic	intronic	intronic	PARVA	PARVA	ENSG00000197702	Na	Na	Na	Na	Na	Na	Het;-ACAGGCTCCTGCACTA	868;12|23	Hom;-ACAGGCTCCTGCACTA	990;0|23
N	N	-	11	125542790	125542790	C	G	snp	intronic	 	 	 	 	ACRV1	Acrv1	ENSG00000134940	acrosomal vesicle protein 1	chr11:125541417-125551018	This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]	Cholesterol	 		GO:0007275;multicellular organism development;TAS|GO:0007275;multicellular organism development;TAS	GO:0001669;acrosomal vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ACRV1	https://www.uniprot.org/uniprot/P26436		https://www.ncbi.nlm.nih.gov/omim/?term=102525	http://www.informatics.jax.org/searchtool/Search.do?query=ACRV1&submit=Quick%0D%152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACRV1	rs565435	0.277157	0	0	1	0	0	intronic	intronic	intronic	ACRV1,CHEK1	ACRV1,CHEK1	ENSG00000134940,ENSG00000149554	Na	Na	Na	Na	Na	Na	Het;C>G	78;2|3	Hom;C>G	120;0|4
N	N	-	11	125616502	125616502	T	A	snp	intronic	 	 	 	 	PATE1	Pate1	ENSG00000171053	prostate and testis expressed 1	chr11:125616188-125619762			Male mice exhibit normal spermatozoa and fecundity.			GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PATE1			https://www.ncbi.nlm.nih.gov/omim/?term=606861	http://www.informatics.jax.org/searchtool/Search.do?query=PATE1&submit=Quick%0D%12837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE1	rs2553829	0.821286	0.8590	0	1	0	0	intronic	intronic	intronic	PATE1	PATE1	ENSG00000171053	Na	Na	Na	Na	Na	Na	Het;T>A	582;15|25	Hom;T>A	1301;0|44
N	N	-	11	125617317	125617317	A	G	snp	intronic	 	 	 	 	PATE1	Pate1	ENSG00000171053	prostate and testis expressed 1	chr11:125616188-125619762			Male mice exhibit normal spermatozoa and fecundity.			GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PATE1			https://www.ncbi.nlm.nih.gov/omim/?term=606861	http://www.informatics.jax.org/searchtool/Search.do?query=PATE1&submit=Quick%0D%12837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE1	rs496459	0.303315	0.3352	0.3415	1	0	0	intronic	intronic	intronic	PATE1	PATE1	ENSG00000171053	Na	Na	Na	Na	Na	Na	Het;A>G	857;57|46	Hom;A>G	2456;0|91
N	N	-	11	125617467	125617467	G	T	snp	intronic	 	 	 	 	PATE1	Pate1	ENSG00000171053	prostate and testis expressed 1	chr11:125616188-125619762			Male mice exhibit normal spermatozoa and fecundity.			GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PATE1			https://www.ncbi.nlm.nih.gov/omim/?term=606861	http://www.informatics.jax.org/searchtool/Search.do?query=PATE1&submit=Quick%0D%12837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE1	rs495356	0.824081	0	0	1	0	0	intronic	intronic	intronic	PATE1	PATE1	ENSG00000171053	Na	Na	Na	Na	Na	Na	Het;G>T	105;3|5	Hom;G>T	285;0|9
N	N	-	11	125617606	125617606	G	A	snp	nonsynonymous SNV	G136A	V46I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PATE1	Pate1	ENSG00000171053	prostate and testis expressed 1	chr11:125616188-125619762			Male mice exhibit normal spermatozoa and fecundity.			GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PATE1			https://www.ncbi.nlm.nih.gov/omim/?term=606861	http://www.informatics.jax.org/searchtool/Search.do?query=PATE1&submit=Quick%0D%12837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE1	rs537916	0.274161	0.3118	0.3327	0.15	2	13	exonic	exonic	exonic	PATE1	PATE1	ENSG00000171053	nonsynonymous SNV	nonsynonymous SNV	unknown	PATE1:NM_138294:exon4:c.G136A:p.V46I,	PATE1:uc009zbr.3:exon3:c.G100A:p.V34I,PATE1:uc001qct.3:exon4:c.G136A:p.V46I,	UNKNOWN	Het;G>A	405;43|22	Hom;G>A	1625;2|64
N	N	-	11	125617769	125617769	C	T	snp	intronic	 	 	 	 	PATE1	Pate1	ENSG00000171053	prostate and testis expressed 1	chr11:125616188-125619762			Male mice exhibit normal spermatozoa and fecundity.			GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PATE1			https://www.ncbi.nlm.nih.gov/omim/?term=606861	http://www.informatics.jax.org/searchtool/Search.do?query=PATE1&submit=Quick%0D%12837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE1	rs542285	0.270367	0.3170	0.3308	1	0	0	intronic	intronic	intronic	PATE1	PATE1	ENSG00000171053	Na	Na	Na	Na	Na	Na	Het;C>T	296;15|14	Hom;C>T	865;0|32
N	N	-	11	125659423	125659423	A	C	snp	intronic	 	 	 	 	PATE3	Pate3	ENSG00000236027	prostate and testis expressed 3	chr11:125658006-125661495			Male mice exhibit normal spermatozoa and fecundity.			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PATE3				http://www.informatics.jax.org/searchtool/Search.do?query=PATE3&submit=Quick%0D%19383ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE3	rs495869	0.500599	0	0.5798	1	0	0	intronic	intronic	intronic	PATE3	PATE3	ENSG00000236027	Na	Na	Na	Na	Na	Na	Het;A>C	603;20|31	Hom;A>C	1252;1|41
N	N	-	11	125707761	125707761	A	C	snp	splicing	59-2A>C	 	 	 	PATE4		ENSG00000237353	prostate and testis expressed 4	chr11:125703211-125709964			Mice homozygous for a knock-out allele exhibit normal viability with no detectable defects in bone formation or remodeling, organ gross morphology or fertility. Mice homozygous for a different knock-out allele exhibit male subfertility due to impaired vaginal plug formation and semen leakage.		GO:0009611;response to wounding;IEA|GO:0050804;modulation of synaptic transmission;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PATE4				http://www.informatics.jax.org/searchtool/Search.do?query=PATE4&submit=Quick%0D%19495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE4	rs11220236	0.492812	0	0.5778	0.25	1	4	splicing	splicing	splicing	PATE4(NM_001144874:exon2:c.59-2A>C)	PATE4(uc001qcv.3:exon2:c.59-2A>C)	ENSG00000237353(ENST00000457514:exon2:c.59-2A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	190;22|11	Hom;A>C	736;0|24
N	N	-	11	125763746	125763746	C	G	snp	nonsynonymous SNV	G1380C	E460D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PUS3	Pus3	ENSG00000110060	pseudouridylate synthase 3	chr11:125763381-125773116	The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Mental retardation autosomal recessive 55	 	tRNA modification in the nucleus and cytosol	GO:0001522;pseudouridine synthesis;IEA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:0031119;tRNA pseudouridine synthesis;IMP|GO:1990481;mRNA pseudouridine synthesis;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0003723;RNA binding;IEA|GO:0009982;pseudouridine synthase activity;IMP|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PUS3	https://www.uniprot.org/uniprot/Q9BZE2	https://hpo.jax.org/app/browse/search?q=PUS3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616283	http://www.informatics.jax.org/searchtool/Search.do?query=PUS3&submit=Quick%0D%3919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS3	rs3088241	0.458666	0.4668	0.4931	0.08	1	13	exonic	exonic	exonic	PUS3	PUS3	ENSG00000110060	nonsynonymous SNV	nonsynonymous SNV	unknown	PUS3:NM_031307:exon4:c.G1380C:p.E460D,PUS3:NM_001271985:exon3:c.G756C:p.E252D,	PUS3:uc001qcy.2:exon4:c.G1380C:p.E460D,PUS3:uc031qfe.1:exon3:c.G756C:p.E252D,	UNKNOWN	Het;C>G	1289;79|63	Hom;C>G	4269;1|151
N	N	-	11	125766044	125766044	C	A	snp	nonsynonymous SNV	G136T	A46S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PUS3	Pus3	ENSG00000110060	pseudouridylate synthase 3	chr11:125763381-125773116	The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Mental retardation autosomal recessive 55	 	tRNA modification in the nucleus and cytosol	GO:0001522;pseudouridine synthesis;IEA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:0031119;tRNA pseudouridine synthesis;IMP|GO:1990481;mRNA pseudouridine synthesis;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0003723;RNA binding;IEA|GO:0009982;pseudouridine synthase activity;IMP|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PUS3	https://www.uniprot.org/uniprot/Q9BZE2	https://hpo.jax.org/app/browse/search?q=PUS3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616283	http://www.informatics.jax.org/searchtool/Search.do?query=PUS3&submit=Quick%0D%3919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS3	rs549990	0.63738	0.6625	0.6684	0.15	2	13	exonic	exonic	exonic	PUS3	PUS3	ENSG00000110060	nonsynonymous SNV	nonsynonymous SNV	unknown	PUS3:NM_031307:exon2:c.G136T:p.A46S,	PUS3:uc001qcy.2:exon2:c.G136T:p.A46S,	UNKNOWN	Het;C>A	2473;91|113	Hom;C>A	4095;0|150
N	N	-	11	125826702	125826702	G	A	snp	UTR3	*4135C>T	 	 	 	CDON	Cdon	ENSG00000064309	cell adhesion associated, oncogene regulated	chr11:125825691-125933230	This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder	Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning.	Activation of SMO	GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDON	https://www.uniprot.org/uniprot/Q4KMG0	https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608707	http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON	rs4937076	0.497204	0	0	1	0	0	downstream	downstream	UTR3	CDON	BC043578,CDON	ENSG00000064309(ENST00000392693:c.*4135C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	121;12|8	Hom;G>A	838;0|32
N	N	-	11	125826785	125826785	G	A	snp	UTR3	*4052C>T	 	 	 	CDON	Cdon	ENSG00000064309	cell adhesion associated, oncogene regulated	chr11:125825691-125933230	This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder	Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning.	Activation of SMO	GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDON	https://www.uniprot.org/uniprot/Q4KMG0	https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608707	http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON	rs3039	0.240216	0	0	1	0	0	UTR3	UTR3	UTR3	CDON(NM_001243597:c.*4052C>T,NM_016952:c.*4052C>T)	CDON(uc001qdb.4:c.*4052C>T,uc009zbw.3:c.*4052C>T,uc001qdc.4:c.*4052C>T)	ENSG00000064309(ENST00000392693:c.*4052C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	378;37|22	Hom;G>A	1814;0|70
N	N	-	11	125826953	125826953	A	C	snp	UTR3	*3884T>G	 	 	 	CDON	Cdon	ENSG00000064309	cell adhesion associated, oncogene regulated	chr11:125825691-125933230	This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder	Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning.	Activation of SMO	GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDON	https://www.uniprot.org/uniprot/Q4KMG0	https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608707	http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON	rs13424	0.272564	0	0	1	0	0	UTR3	UTR3	UTR3	CDON(NM_001243597:c.*3884T>G,NM_016952:c.*3884T>G)	CDON(uc001qdb.4:c.*3884T>G,uc009zbw.3:c.*3884T>G,uc001qdc.4:c.*3884T>G)	ENSG00000064309(ENST00000392693:c.*3884T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	952;56|41	Hom;A>C	2637;0|96
N	N	-	11	125828007	125828007	T	C	snp	ncRNA_exonic	 	 	 	 	ENSG00000264299																		rs1065398	0.505591	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CDON(NM_001243597:c.*2830A>G,NM_016952:c.*2830A>G)	CDON(uc001qdb.4:c.*2830A>G,uc009zbw.3:c.*2830A>G,uc001qdc.4:c.*2830A>G)	ENSG00000264299	Na	Na	Na	Na	Na	Na	Het;T>C	154;23|7	Hom;T>C	1366;0|47
N	N	-	11	125828097	125828097	A	G	snp	ncRNA_exonic	 	 	 	 	ENSG00000264299																		rs2186754	0.51857	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CDON(NM_001243597:c.*2740T>C,NM_016952:c.*2740T>C)	CDON(uc001qdb.4:c.*2740T>C,uc009zbw.3:c.*2740T>C,uc001qdc.4:c.*2740T>C)	ENSG00000264299	Na	Na	Na	Na	Na	Na	Het;A>G	385;47|25	Hom;A>G	1771;0|65
N	N	-	11	125830697	125830697	T	C	snp	UTR3	*140A>G	 	 	 	CDON	Cdon	ENSG00000064309	cell adhesion associated, oncogene regulated	chr11:125825691-125933230	This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder	Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning.	Activation of SMO	GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDON	https://www.uniprot.org/uniprot/Q4KMG0	https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608707	http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON	rs3737336	0.242412	0	0	1	0	0	UTR3	UTR3	UTR3	CDON(NM_001243597:c.*140A>G,NM_016952:c.*140A>G)	CDON(uc001qdb.4:c.*140A>G,uc009zbw.3:c.*140A>G,uc001qdc.4:c.*140A>G)	ENSG00000064309(ENST00000392693:c.*140A>G,ENST00000531738:c.*140A>G,ENST00000263577:c.*140A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	108;7|5	Hom;T>C	420;0|11
N	N	-	11	125831701	125831701	G	A	snp	synonymous SNV	C3549T	V1183V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CDON	Cdon	ENSG00000064309	cell adhesion associated, oncogene regulated	chr11:125825691-125933230	This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder	Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning.	Activation of SMO	GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDON	https://www.uniprot.org/uniprot/Q4KMG0	https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608707	http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON	rs2276061	0.242212	0.2531	0.2906	1	0	0	exonic	exonic	exonic	CDON	CDON	ENSG00000064309	synonymous SNV	synonymous SNV	unknown	CDON:NM_016952:exon19:c.C3549T:p.V1183V,CDON:NM_001243597:exon19:c.C3549T:p.V1183V,	CDON:uc009zbw.3:exon19:c.C3549T:p.V1183V,CDON:uc001qdc.4:exon19:c.C3549T:p.V1183V,CDON:uc001qdb.4:exon10:c.C1680T:p.V560V,	UNKNOWN	Het;G>A	1794;98|87	Hom;G>A	4197;1|159
N	N	-	11	126147713	126147713	C	G	snp	UTR3	*129C>G	 	 	 	FOXRED1	Foxred1	ENSG00000110074	FAD dependent oxidoreductase domain containing 1	chr11:126138950-126148026	This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]	Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0008150;biological_process;ND|GO:0032981;mitochondrial respiratory chain complex I assembly;IMP|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FOXRED1	https://www.uniprot.org/uniprot/Q96CU9	https://hpo.jax.org/app/browse/search?q=FOXRED1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613622	http://www.informatics.jax.org/searchtool/Search.do?query=FOXRED1&submit=Quick%0D%3922ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXRED1	rs594318	0.302117	0	0.3637	1	0	0	UTR3	UTR3	UTR3	FOXRED1(NM_017547:c.*129C>G)	FOXRED1(uc001qdi.3:c.*129C>G,uc010sbn.2:c.*129C>G,uc010sbq.2:c.*129C>G,uc010sbp.2:c.*129C>G,uc010sbr.2:c.*129C>G,uc001qdk.3:c.*129C>G)	ENSG00000110074(ENST00000263578:c.*129C>G,ENST00000442061:c.*129C>G,ENST00000525770:c.*1222C>G,ENST00000527004:c.*934C>G,ENST00000532125:c.*129C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	2930;156|132	Hom;C>G	6975;0|242
N	N	-	11	126174164	126174164	C	T	snp	synonymous SNV	C189T	F63F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	DCPS	Dcps	ENSG00000110063	decapping enzyme, scavenger	chr11:126173647-126215644		AL-RAQAD SYNDROME	A mutant mouse line was generated from gene-trapped ES cells, but no phenotypic information is available.	mRNA decay by 3' to 5' exoribonuclease	GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;TAS|GO:0000290;deadenylation-dependent decapping of nuclear-transcribed mRNA;IBA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0036245;cellular response to menadione;IDA|GO:0043069;negative regulation of programmed cell death;IDA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0045292;mRNA cis splicing, via spliceosome;IDA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS	GO:0000340;RNA 7-methylguanosine cap binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004532;exoribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0050072;m7G(5')pppN diphosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DCPS	https://www.uniprot.org/uniprot/Q96C86	https://hpo.jax.org/app/browse/search?q=DCPS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610534	http://www.informatics.jax.org/searchtool/Search.do?query=DCPS&submit=Quick%0D%3920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCPS	rs695029	0.305711	0.1684	0.2702	1	0	0	exonic	exonic	exonic	DCPS	DCPS	ENSG00000110063	synonymous SNV	synonymous SNV	unknown	DCPS:NM_014026:exon1:c.C189T:p.F63F,	DCPS:uc001qdp.3:exon1:c.C189T:p.F63F,	UNKNOWN	Het;C>T	1085;39|50	Hom;C>T	2326;0|82
N	N	-	11	126316610	126316610	C	T	snp	intronic	 	 	 	 	KIRREL3	Kirrel3	ENSG00000149571	kirre like nephrin family adhesion molecule 3	chr11:126293254-126873355	The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Heart Failure; Attention Deficit and Disruptive Behavior Disorders; Tobacco Use Disorder; Clozapine; Hair Color; Attention deficit hyperactivity disorder and conduct disorder; Stroke; Insulin-Like Growth Factor I; Magnesium; protein quantitative trait loci	Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse.	Nephrin family interactions	GO:0001764;neuron migration;IEA|GO:0002121;inter-male aggressive behavior;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0021740;principal sensory nucleus of trigeminal nerve development;IEA|GO:0021766;hippocampus development;IEA|GO:0030097;hemopoiesis;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0072102;glomerulus morphogenesis;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0043198;dendritic shaft;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIRREL3	https://www.uniprot.org/uniprot/Q8IZU9		https://www.ncbi.nlm.nih.gov/omim/?term=607761	http://www.informatics.jax.org/searchtool/Search.do?query=KIRREL3&submit=Quick%0D%9254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIRREL3	rs1574534	0.418331	0.6046	0.5671	1	0	0	intronic	intronic	intronic	KIRREL3	KIRREL3	ENSG00000149571	Na	Na	Na	Na	Na	Na	Het;C>T	353;11|14	Hom;C>T	680;0|25
N	N	-	11	1267960	1267960	A	G	snp	nonsynonymous SNV	A9850G	T3284A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MUC5B	Muc5b	ENSG00000117983	mucin 5B, oligomeric mucus/gel-forming	chr11:1244296-1283406	This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]	Albumins; bladder cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Otitis Media|Otitis Media with Effusion|Recurrence; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Mice homozygous for a knock-out allele accumulate materials in the upper and lower airways leading to chronic infection and inflammation that does not resolve and results in premature death. Macrophage function is impaired.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0042742;defense response to bacterium;IEA|GO:0043030;regulation of macrophage activation;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0070701;mucus layer;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC5B	https://www.uniprot.org/uniprot/Q9HC84	https://hpo.jax.org/app/browse/search?q=MUC5B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600770	http://www.informatics.jax.org/searchtool/Search.do?query=MUC5B&submit=Quick%0D%4933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC5B	rs2943531	0	0.6740	0.7851	0.08	1	12	exonic	exonic	exonic	MUC5B	MUC5B	ENSG00000117983	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC5B:NM_002458:exon31:c.A9850G:p.T3284A,	MUC5B:uc001lta.3:exon31:c.A9850G:p.T3284A,	UNKNOWN	Het;A>G	3023;294|140	Hom;A>G	6277;2|185
N	N	-	11	128563392	128563392	C	T	snp	ncRNA_intronic	 	 	 	 	FLI1-AS1																		rs12420823	0.401358	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SENCR	FLI1-AS1	ENSG00000254703	Na	Na	Na	Na	Na	Na	Het;C>T	249;2|10	Hom;C>T	279;0|11
N	N	-	11	128563413	128563413	C	A	snp	ncRNA_intronic	 	 	 	 	FLI1-AS1																		rs12420835	0.372204	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SENCR	FLI1-AS1	ENSG00000254703	Na	Na	Na	Na	Na	Na	Het;C>A	134;1|6	Hom;C>A	173;0|7
N	N	-	11	1308618	1308618	T	C	snp	intronic	 	 	 	 	TOLLIP	Tollip	ENSG00000078902	toll interacting protein	chr11:1295601-1330884	This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Albumins; antibody response to pertussis vaccination; Meningeal Neoplasms|meningioma; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; dermatitis and eczema	Homozygous null mice display normal immune cell composition but reduced cytokine production when stimulated with low concentrations of some inducers.	Neutrophil degranulation	GO:0002376;immune system process;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0006914;autophagy;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;IPI|GO:0007267;cell-cell signaling;TAS|GO:0016310;phosphorylation;IDA|GO:0030855;epithelial cell differentiation;IEP|GO:0033235;positive regulation of protein sumoylation;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0036010;protein localization to endosome;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IEA|GO:0045321;leukocyte activation;NAS	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0045092;interleukin-18 receptor complex;NAS|GO:0045323;interleukin-1 receptor complex;NAS|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;NAS|GO:0005150;interleukin-1, Type I receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032183;SUMO binding;IEA|GO:0035325;Toll-like receptor binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TOLLIP	https://www.uniprot.org/uniprot/Q9H0E2		https://www.ncbi.nlm.nih.gov/omim/?term=606277	http://www.informatics.jax.org/searchtool/Search.do?query=TOLLIP&submit=Quick%0D%1681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOLLIP	rs61869685	0.38099	0	0	1	0	0	intronic	intronic	intronic	TOLLIP	TOLLIP	ENSG00000078902	Na	Na	Na	Na	Na	Na	Het;T>C	131;3|4	Hom;T>C	152;0|4
N	N	-	11	1308624	1308624	T	A	snp	intronic	 	 	 	 	TOLLIP	Tollip	ENSG00000078902	toll interacting protein	chr11:1295601-1330884	This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Albumins; antibody response to pertussis vaccination; Meningeal Neoplasms|meningioma; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; dermatitis and eczema	Homozygous null mice display normal immune cell composition but reduced cytokine production when stimulated with low concentrations of some inducers.	Neutrophil degranulation	GO:0002376;immune system process;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0006914;autophagy;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;IPI|GO:0007267;cell-cell signaling;TAS|GO:0016310;phosphorylation;IDA|GO:0030855;epithelial cell differentiation;IEP|GO:0033235;positive regulation of protein sumoylation;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0036010;protein localization to endosome;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IEA|GO:0045321;leukocyte activation;NAS	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0045092;interleukin-18 receptor complex;NAS|GO:0045323;interleukin-1 receptor complex;NAS|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;NAS|GO:0005150;interleukin-1, Type I receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032183;SUMO binding;IEA|GO:0035325;Toll-like receptor binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TOLLIP	https://www.uniprot.org/uniprot/Q9H0E2		https://www.ncbi.nlm.nih.gov/omim/?term=606277	http://www.informatics.jax.org/searchtool/Search.do?query=TOLLIP&submit=Quick%0D%1681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOLLIP	rs6578971	0	0	0	1	0	0	intronic	intronic	intronic	TOLLIP	TOLLIP	ENSG00000078902	Na	Na	Na	Na	Na	Na	Het;T>A	131;3|4	Hom;T>A	152;0|4
N	N	-	11	1308653	1308653	C	G	snp	intronic	 	 	 	 	TOLLIP	Tollip	ENSG00000078902	toll interacting protein	chr11:1295601-1330884	This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Albumins; antibody response to pertussis vaccination; Meningeal Neoplasms|meningioma; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; dermatitis and eczema	Homozygous null mice display normal immune cell composition but reduced cytokine production when stimulated with low concentrations of some inducers.	Neutrophil degranulation	GO:0002376;immune system process;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0006914;autophagy;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;IPI|GO:0007267;cell-cell signaling;TAS|GO:0016310;phosphorylation;IDA|GO:0030855;epithelial cell differentiation;IEP|GO:0033235;positive regulation of protein sumoylation;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0036010;protein localization to endosome;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IEA|GO:0045321;leukocyte activation;NAS	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0045092;interleukin-18 receptor complex;NAS|GO:0045323;interleukin-1 receptor complex;NAS|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;NAS|GO:0005150;interleukin-1, Type I receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032183;SUMO binding;IEA|GO:0035325;Toll-like receptor binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TOLLIP	https://www.uniprot.org/uniprot/Q9H0E2		https://www.ncbi.nlm.nih.gov/omim/?term=606277	http://www.informatics.jax.org/searchtool/Search.do?query=TOLLIP&submit=Quick%0D%1681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOLLIP	rs74929271	0	0	0	1	0	0	intronic	intronic	intronic	TOLLIP	TOLLIP	ENSG00000078902	Na	Na	Na	Na	Na	Na	Het;C>G	131;3|4	Hom;C>G	152;0|4
N	N	-	11	132184279	132184279	C	G	snp	intronic	 	 	 	 	NTM	Ntm	ENSG00000182667	neurotrimin	chr11:131240373-132206716	This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]	Gallbladder Diseases; Triglycerides; Lipids; Breath Tests; Body Height; Heart Failure; Asperger Syndrome; Monocytes; Mental Disorders; Glucose; Erythrocytes; Tobacco Use Disorder; Lipoproteins; Sleep; Tunica Media; Type 2 Diabetes| edema | rosiglitazone; Stroke; Hip	Mice homozygous for a knock-out allele exhibit impaired behavioral response to amphetamine and a deficit in emotional learning in the active avoidance ask.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;NAS|GO:0008038;neuron recognition;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NTM			https://www.ncbi.nlm.nih.gov/omim/?term=607938	http://www.informatics.jax.org/searchtool/Search.do?query=NTM&submit=Quick%0D%14834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTM	rs895925	0.401158	0	0	1	0	0	intronic	intronic	intronic	NTM	NTM	ENSG00000182667	Na	Na	Na	Na	Na	Na	Het;C>G	72;2|3	Hom;C>G	181;0|6
N	N	-	11	134439166	134439166	T	A	snp	ncRNA_intronic	 	 	 	 	AP004550.1																		rs74718041	0.103235	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC283177(dist=63611),NONE(dist=NONE)	LOC283177(dist=63611),AK125040(dist=166673)	ENSG00000254573	Na	Na	Na	Na	Na	Na	Het;T>A	41;1|3	Hom;T>A	71;0|4
N	N	-	11	15197186	15197186	A	G	snp	intronic	 	 	 	 	INSC	Insc	ENSG00000188487	INSC, spindle orientation adaptor protein	chr11:15133970-15268754	In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; Forced Expiratory Volume; Bone Density; Stroke; Hip; Prostatic Neoplasms	Homozygous inactivation of this gene leads to abnormal cochlear hair cell morphology.		GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/INSC			https://www.ncbi.nlm.nih.gov/omim/?term=610668	http://www.informatics.jax.org/searchtool/Search.do?query=INSC&submit=Quick%0D%16041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSC	rs1792588	0.648163	0	0	1	0	0	intronic	intronic	intronic	INSC	INSC	ENSG00000188487	Na	Na	Na	Na	Na	Na	Het;A>G	239;9|8	Hom;A>G	229;0|6
N	N	-	11	15198772	15198772	G	T	snp	intronic	 	 	 	 	INSC	Insc	ENSG00000188487	INSC, spindle orientation adaptor protein	chr11:15133970-15268754	In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; Forced Expiratory Volume; Bone Density; Stroke; Hip; Prostatic Neoplasms	Homozygous inactivation of this gene leads to abnormal cochlear hair cell morphology.		GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/INSC			https://www.ncbi.nlm.nih.gov/omim/?term=610668	http://www.informatics.jax.org/searchtool/Search.do?query=INSC&submit=Quick%0D%16041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSC	rs1624731	0.645168	0.4858	0	1	0	0	intronic	intronic	intronic	INSC	INSC	ENSG00000188487	Na	Na	Na	Na	Na	Na	Het;G>T	146;24|12	Hom;G>T	1091;0|41
N	N	-	11	16205323	16205323	T	C	snp	intronic	 	 	 	 	SOX6	Sox6	ENSG00000110693	SRY-box 6	chr11:15987995-16761138	This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]	Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Fractures, Bone|Osteoporosis; Myocardial Infarction; Tobacco Use Disorder; Fractures, Bone; Carotid Artery Diseases|Plaque, Atherosclerotic; Celiac Disease|; Obesity|Osteoporosis; obesity and osteoporosis; Bone mineral density (hip); Bone Mineral Density; Obesity	Homozygotes for null mutations exhibit cardioskeletal myopathy, cardiac blockage, delayed growth, and early postnatal lethality.	Deactivation of the beta-catenin transactivating complex	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;NAS|GO:0009791;post-embryonic development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016458;gene silencing;IEA|GO:0021778;oligodendrocyte cell fate specification;IEA|GO:0030097;hemopoiesis;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0042692;muscle cell differentiation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048821;erythrocyte development;IEA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0061036;positive regulation of cartilage development;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000726;negative regulation of cardiac muscle cell differentiation;IMP|GO:2000741;positive regulation of mesenchymal stem cell differentiation;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOX6	https://www.uniprot.org/uniprot/P35712		https://www.ncbi.nlm.nih.gov/omim/?term=607257	http://www.informatics.jax.org/searchtool/Search.do?query=SOX6&submit=Quick%0D%3979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX6	rs7926424	0.634984	0	0	1	0	0	intronic	intronic	intronic	SOX6	SOX6	ENSG00000110693	Na	Na	Na	Na	Na	Na	Het;T>C	139;4|5	Hom;T>C	292;0|9
N	N	-	11	16205595	16205595	C	T	snp	intronic	 	 	 	 	SOX6	Sox6	ENSG00000110693	SRY-box 6	chr11:15987995-16761138	This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]	Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Fractures, Bone|Osteoporosis; Myocardial Infarction; Tobacco Use Disorder; Fractures, Bone; Carotid Artery Diseases|Plaque, Atherosclerotic; Celiac Disease|; Obesity|Osteoporosis; obesity and osteoporosis; Bone mineral density (hip); Bone Mineral Density; Obesity	Homozygotes for null mutations exhibit cardioskeletal myopathy, cardiac blockage, delayed growth, and early postnatal lethality.	Deactivation of the beta-catenin transactivating complex	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;NAS|GO:0009791;post-embryonic development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016458;gene silencing;IEA|GO:0021778;oligodendrocyte cell fate specification;IEA|GO:0030097;hemopoiesis;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0042692;muscle cell differentiation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048821;erythrocyte development;IEA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0061036;positive regulation of cartilage development;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000726;negative regulation of cardiac muscle cell differentiation;IMP|GO:2000741;positive regulation of mesenchymal stem cell differentiation;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOX6	https://www.uniprot.org/uniprot/P35712		https://www.ncbi.nlm.nih.gov/omim/?term=607257	http://www.informatics.jax.org/searchtool/Search.do?query=SOX6&submit=Quick%0D%3979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX6	rs1455111	0.664137	0	0	1	0	0	intronic	intronic	intronic	SOX6	SOX6	ENSG00000110693	Na	Na	Na	Na	Na	Na	Het;C>T	126;7|6	Hom;C>T	282;0|10
N	N	-	11	17940172	17940172	G	GAC	indel	intronic	 	 	 	 	SERGEF	Sergef	ENSG00000129158	secretion regulating guanine nucleotide exchange factor	chr11:17809595-18034709		Hematocrit; Body Height; Hemoglobins	 		GO:0007165;signal transduction;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050709;negative regulation of protein secretion;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005087;Ran guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SERGEF	https://www.uniprot.org/uniprot/Q9UGK8		https://www.ncbi.nlm.nih.gov/omim/?term=606051	http://www.informatics.jax.org/searchtool/Search.do?query=SERGEF&submit=Quick%0D%6219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERGEF	rs141971282	0	0	0	1	0	0	intronic	intronic	intronic	SERGEF	SERGEF	ENSG00000129158	Na	Na	Na	Na	Na	Na	Het;+AC	154;7|7	Hom;+AC	383;0|14
N	N	-	11	17981047	17981047	C	T	snp	synonymous SNV	G981A	S327S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SERGEF	Sergef	ENSG00000129158	secretion regulating guanine nucleotide exchange factor	chr11:17809595-18034709		Hematocrit; Body Height; Hemoglobins	 		GO:0007165;signal transduction;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050709;negative regulation of protein secretion;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005087;Ran guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SERGEF	https://www.uniprot.org/uniprot/Q9UGK8		https://www.ncbi.nlm.nih.gov/omim/?term=606051	http://www.informatics.jax.org/searchtool/Search.do?query=SERGEF&submit=Quick%0D%6219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERGEF	rs211146	0.688498	0.6988	0.6106	1	0	0	exonic	exonic	exonic	SERGEF	SERGEF	ENSG00000129158	synonymous SNV	synonymous SNV	unknown	SERGEF:NM_012139:exon9:c.G981A:p.S327S,	SERGEF:uc001mnm.3:exon9:c.G981A:p.S327S,	UNKNOWN	Het;C>T	642;82|36	Hom;C>T	2077;0|76
N	N	-	11	18104986	18104986	A	C	snp	intronic	 	 	 	 	SAAL1	Saal1	ENSG00000166788	serum amyloid A like 1	chr11:18091482-18127638			 			GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SAAL1				http://www.informatics.jax.org/searchtool/Search.do?query=SAAL1&submit=Quick%0D%11861ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAAL1	rs7102017	0.358826	0	0	1	0	0	intronic	intronic	intronic	SAAL1	SAAL1	ENSG00000166788	Na	Na	Na	Na	Na	Na	Het;A>C	47;1|2	Hom;A>C	91;0|3
N	N	-	11	18105302	18105302	T	C	snp	intronic	 	 	 	 	SAAL1	Saal1	ENSG00000166788	serum amyloid A like 1	chr11:18091482-18127638			 			GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SAAL1				http://www.informatics.jax.org/searchtool/Search.do?query=SAAL1&submit=Quick%0D%11861ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAAL1	rs3741199	0.359225	0.4452	0.3756	1	0	0	intronic	intronic	intronic	SAAL1	SAAL1	ENSG00000166788	Na	Na	Na	Na	Na	Na	Het;T>C	356;16|16	Hom;T>C	737;0|26
N	N	-	11	18111692	18111692	A	AT	indel	intronic	 	 	 	 	SAAL1	Saal1	ENSG00000166788	serum amyloid A like 1	chr11:18091482-18127638			 			GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SAAL1				http://www.informatics.jax.org/searchtool/Search.do?query=SAAL1&submit=Quick%0D%11861ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAAL1	rs11424886	0.363019	0.4473	0.4048	1	0	0	intronic	intronic	intronic	SAAL1	SAAL1	ENSG00000166788	Na	Na	Na	Na	Na	Na	Het;+T	405;33|21	Hom;+T	1683;0|60
N	N	-	11	18127679	18127679	T	C	snp	upstream	 	 	 	 	SAAL1	Saal1	ENSG00000166788	serum amyloid A like 1	chr11:18091482-18127638			 			GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SAAL1				http://www.informatics.jax.org/searchtool/Search.do?query=SAAL1&submit=Quick%0D%11861ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAAL1	rs871699	0.372804	0	0	1	0	0	upstream	upstream	upstream	SAAL1	SAAL1	ENSG00000166788,ENSG00000255254	Na	Na	Na	Na	Na	Na	Het;T>C	237;6|10	Hom;T>C	213;0|8
N	N	-	11	18230711	18230711	T	A	snp	ncRNA_exonic	 	 	 	 	LOC494141																		rs2468790	0.478435	0	0	1	0	0	ncRNA_exonic	UTR5	UTR5	LOC494141	LOC494141(uc009yhh.4:c.-504T>A)	ENSG00000189332(ENST00000340135:c.-504T>A,ENST00000534640:c.-504T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	789;58|41	Hom;T>A	2407;0|93
N	N	-	11	18231915	18231915	T	C	snp	ncRNA_exonic	 	 	 	 	LOC494141																		rs2251440	0.360224	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LOC494141	LOC494141(uc009yhh.4:c.*236T>C)	ENSG00000189332(ENST00000340135:c.*236T>C,ENST00000534640:c.*236T>C,ENST00000527059:c.*236T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	4212;152|182	Hom;T>C	8048;1|288
N	N	-	11	18267027	18267027	C	T	snp	nonsynonymous SNV	G266A	R89H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	SAA2	Saa2	ENSG00000134339	serum amyloid A2	chr11:18260770-18270190		Aging/ Telomere Length; Mental Disorders; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Cardiovascular Diseases; Tobacco Use Disorder; cognitive trait; amyloidosis; Familial Mediterranean Fever	The CE/J strain produces a mutant form of Saa2 and is not susceptible to amyloidosis, as are mice of most other inbred strains. M. caroli, M. spretus and M.m. Czech produce variant Saa2 isoforms and M.m. Czech is also reistant to amyloidosis.		GO:0006953;acute-phase response;IEA|GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0034364;high-density lipoprotein particle;IEA|GO:0070062;extracellular exosome;IDA	GO:0042056;chemoattractant activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SAA2	https://www.uniprot.org/uniprot/P0DJI9		https://www.ncbi.nlm.nih.gov/omim/?term=104751	http://www.informatics.jax.org/searchtool/Search.do?query=SAA2&submit=Quick%0D%6964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2	rs2468844	0.770966	0.7999	0.8314	0.20	2	10	exonic	exonic	exonic	SAA2	SAA2	ENSG00000134339	nonsynonymous SNV	nonsynonymous SNV	unknown	SAA2:NM_030754:exon4:c.G266A:p.R89H,	SAA2:uc001mnz.4:exon4:c.G266A:p.R89H,	UNKNOWN	Het;C>T	1918;81|87	Hom;C>T	3513;0|133
N	N	-	11	18267135	18267135	C	T	snp	ncRNA_intronic	 	 	 	 	SAA2-SAA4	Saa4	ENSG00000255071	SAA2-SAA4 readthrough	chr11:18252970-18270182	This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]		 		GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0042056;chemoattractant activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SAA2-SAA4				http://www.informatics.jax.org/searchtool/Search.do?query=SAA2-SAA4&submit=Quick%0D%20105ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2-SAA4	rs56373142	0.252196	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SAA2,SAA2-SAA4	SAA2,SAA2-SAA4	ENSG00000255071	Na	Na	Na	Na	Na	Na	Het;C>T	445;27|20	Hom;C>T	1021;0|37
N	N	-	11	18267188	18267189	GA	G	indel	ncRNA_intronic	 	 	 	 	SAA2-SAA4	Saa4	ENSG00000255071	SAA2-SAA4 readthrough	chr11:18252970-18270182	This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]		 		GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0042056;chemoattractant activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SAA2-SAA4				http://www.informatics.jax.org/searchtool/Search.do?query=SAA2-SAA4&submit=Quick%0D%20105ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2-SAA4	rs58546509	0.251997	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SAA2,SAA2-SAA4	SAA2,SAA2-SAA4	ENSG00000255071	Na	Na	Na	Na	Na	Na	Het;-A	138;10|7	Hom;-A	634;0|21
N	N	-	11	18267651	18267651	A	C	snp	ncRNA_intronic	 	 	 	 	SAA2-SAA4	Saa4	ENSG00000255071	SAA2-SAA4 readthrough	chr11:18252970-18270182	This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]		 		GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0042056;chemoattractant activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SAA2-SAA4				http://www.informatics.jax.org/searchtool/Search.do?query=SAA2-SAA4&submit=Quick%0D%20105ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2-SAA4	rs1671923	0.565096	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SAA2,SAA2-SAA4	SAA2,SAA2-SAA4	ENSG00000255071	Na	Na	Na	Na	Na	Na	Het;A>C	367;29|18	Hom;A>C	1257;3|47
N	N	-	11	18267702	18267702	T	A	snp	ncRNA_intronic	 	 	 	 	SAA2-SAA4	Saa4	ENSG00000255071	SAA2-SAA4 readthrough	chr11:18252970-18270182	This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]		 		GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0042056;chemoattractant activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SAA2-SAA4				http://www.informatics.jax.org/searchtool/Search.do?query=SAA2-SAA4&submit=Quick%0D%20105ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2-SAA4	rs4757631	0.487819	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SAA2,SAA2-SAA4	SAA2,SAA2-SAA4	ENSG00000255071	Na	Na	Na	Na	Na	Na	Het;T>A	118;18|7	Hom;T>A	613;0|21
N	N	-	11	18420805	18420805	T	A	snp	intronic	 	 	 	 	LDHA	Ldha	ENSG00000134333	lactate dehydrogenase A	chr11:18415935-18429972	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]	Narcolepsy; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein; null; Acquired Immunodeficiency Syndrome|Disease Progression; panic disorder	Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes.	Pyruvate metabolism	GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006089;lactate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006096;glycolytic process;NAS|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019674;NAD metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0048569;post-embryonic animal organ development;IEA|GO:0051591;response to cAMP;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004457;lactate dehydrogenase activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019900;kinase binding;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051287;NAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHA	https://www.uniprot.org/uniprot/P00338	https://hpo.jax.org/app/browse/search?q=LDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150000	http://www.informatics.jax.org/searchtool/Search.do?query=LDHA&submit=Quick%0D%6963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHA	rs7121244	0.634585	0	0	1	0	0	intronic	intronic	intronic	LDHA	LDHA	ENSG00000134333	Na	Na	Na	Na	Na	Na	Het;T>A	103;1|4	Hom;T>A	94;0|4
N	N	-	11	18422487	18422487	C	A	snp	synonymous SNV	C435A	I145I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LDHA	Ldha	ENSG00000134333	lactate dehydrogenase A	chr11:18415935-18429972	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]	Narcolepsy; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein; null; Acquired Immunodeficiency Syndrome|Disease Progression; panic disorder	Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes.	Pyruvate metabolism	GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006089;lactate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006096;glycolytic process;NAS|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019674;NAD metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0048569;post-embryonic animal organ development;IEA|GO:0051591;response to cAMP;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004457;lactate dehydrogenase activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019900;kinase binding;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051287;NAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHA	https://www.uniprot.org/uniprot/P00338	https://hpo.jax.org/app/browse/search?q=LDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150000	http://www.informatics.jax.org/searchtool/Search.do?query=LDHA&submit=Quick%0D%6963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHA	rs6498	0.0974441	0.1384	0.1442	1	0	0	exonic	exonic	exonic	LDHA	LDHA	ENSG00000134333	synonymous SNV	synonymous SNV	unknown	LDHA:NM_001165415:exon4:c.C348A:p.I116I,LDHA:NM_001165416:exon4:c.C348A:p.I116I,LDHA:NM_001165414:exon4:c.C435A:p.I145I,LDHA:NM_005566:exon4:c.C348A:p.I116I,	LDHA:uc010rdd.2:exon4:c.C435A:p.I145I,LDHA:uc021qep.1:exon4:c.C348A:p.I116I,LDHA:uc001mol.3:exon4:c.C348A:p.I116I,LDHA:uc001mok.3:exon4:c.C348A:p.I116I,	UNKNOWN	Het;C>A	1138;50|57	Hom;C>A	2874;0|107
N	N	-	11	18424223	18424223	G	C	snp	intronic	 	 	 	 	LDHA	Ldha	ENSG00000134333	lactate dehydrogenase A	chr11:18415935-18429972	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]	Narcolepsy; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein; null; Acquired Immunodeficiency Syndrome|Disease Progression; panic disorder	Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes.	Pyruvate metabolism	GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006089;lactate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006096;glycolytic process;NAS|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019674;NAD metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0048569;post-embryonic animal organ development;IEA|GO:0051591;response to cAMP;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004457;lactate dehydrogenase activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019900;kinase binding;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051287;NAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHA	https://www.uniprot.org/uniprot/P00338	https://hpo.jax.org/app/browse/search?q=LDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150000	http://www.informatics.jax.org/searchtool/Search.do?query=LDHA&submit=Quick%0D%6963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHA	rs10832932	0.634784	0	0	1	0	0	intronic	intronic	intronic	LDHA	LDHA	ENSG00000134333	Na	Na	Na	Na	Na	Na	Het;G>C	77;4|4	Hom;G>C	193;0|7
N	N	-	11	18424451	18424451	C	T	snp	synonymous SNV	C570T	S190S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LDHA	Ldha	ENSG00000134333	lactate dehydrogenase A	chr11:18415935-18429972	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]	Narcolepsy; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein; null; Acquired Immunodeficiency Syndrome|Disease Progression; panic disorder	Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes.	Pyruvate metabolism	GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006089;lactate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006096;glycolytic process;NAS|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019674;NAD metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0048569;post-embryonic animal organ development;IEA|GO:0051591;response to cAMP;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004457;lactate dehydrogenase activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019900;kinase binding;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051287;NAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHA	https://www.uniprot.org/uniprot/P00338	https://hpo.jax.org/app/browse/search?q=LDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150000	http://www.informatics.jax.org/searchtool/Search.do?query=LDHA&submit=Quick%0D%6963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHA	rs4687	0.634585	0.6323	0.6978	1	0	0	exonic	exonic	exonic	LDHA	LDHA	ENSG00000134333	synonymous SNV	synonymous SNV	unknown	LDHA:NM_001135239:exon4:c.C309T:p.S103S,LDHA:NM_001165415:exon5:c.C483T:p.S161S,LDHA:NM_001165416:exon5:c.C483T:p.S161S,LDHA:NM_001165414:exon5:c.C570T:p.S190S,LDHA:NM_005566:exon5:c.C483T:p.S161S,	LDHA:uc010rdd.2:exon5:c.C570T:p.S190S,LDHA:uc021qep.1:exon5:c.C483T:p.S161S,LDHA:uc001mol.3:exon5:c.C483T:p.S161S,LDHA:uc001mok.3:exon5:c.C483T:p.S161S,LDHA:uc010rdc.1:exon4:c.C309T:p.S103S,	UNKNOWN	Het;C>T	108;5|6	Hom;C>T	493;0|19
N	N	-	11	18429467	18429467	T	C	snp	UTR3	*639T>C	 	 	 	LDHA	Ldha	ENSG00000134333	lactate dehydrogenase A	chr11:18415935-18429972	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]	Narcolepsy; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein; null; Acquired Immunodeficiency Syndrome|Disease Progression; panic disorder	Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes.	Pyruvate metabolism	GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006089;lactate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006096;glycolytic process;NAS|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019674;NAD metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0048569;post-embryonic animal organ development;IEA|GO:0051591;response to cAMP;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004457;lactate dehydrogenase activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019900;kinase binding;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051287;NAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHA	https://www.uniprot.org/uniprot/P00338	https://hpo.jax.org/app/browse/search?q=LDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150000	http://www.informatics.jax.org/searchtool/Search.do?query=LDHA&submit=Quick%0D%6963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHA	rs3758682	0.629992	0	0.7162	1	0	0	UTR3	UTR3	UTR3	LDHA(NM_001165415:c.*544T>C,NM_001135239:c.*639T>C,NM_001165416:c.*788T>C,NM_005566:c.*639T>C,NM_001165414:c.*639T>C)	LDHA(uc001mok.3:c.*639T>C,uc009yho.2:c.*639T>C,uc001mol.3:c.*788T>C,uc010rdc.1:c.*639T>C,uc021qep.1:c.*544T>C,uc010rdd.2:c.*639T>C)	ENSG00000134333(ENST00000422447:c.*639T>C,ENST00000396222:c.*544T>C,ENST00000227157:c.*788T>C,ENST00000540430:c.*639T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	2190;81|98	Hom;T>C	4679;0|170
N	N	-	11	18434536	18434536	T	C	snp	intronic	 	 	 	 	LDHC	Ldhc	ENSG00000166796	lactate dehydrogenase C	chr11:18433854-18473605	 Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis.  LDHC is testis-specific and belongs to the lactate dehydrogenase family.  Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008]	Acute-Phase Serum Amyloid A	Homozygous male mice are infertile. Spermatogenesis appears normal, but sperm motility decreases rapidly after their release from the epididymus. In vitro fertilization is blocked unless the zona pellucida is removed; even then, the rate of sperm penetration is lower than for wild-type sperm.	Pyruvate metabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006754;ATP biosynthetic process;IEA|GO:0019244;lactate biosynthetic process from pyruvate;IEA|GO:0019516;lactate oxidation;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHC			https://www.ncbi.nlm.nih.gov/omim/?term=150150	http://www.informatics.jax.org/searchtool/Search.do?query=LDHC&submit=Quick%0D%11864ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHC	rs10766477	0	0	0	1	0	0	intronic	intronic	intronic	LDHC	LDHC	ENSG00000166796	Na	Na	Na	Na	Na	Na	Het;T>C	248;6|7	Hom;T>C	828;0|19
N	N	-	11	18456181	18456181	A	G	snp	intronic	 	 	 	 	LDHC	Ldhc	ENSG00000166796	lactate dehydrogenase C	chr11:18433854-18473605	 Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis.  LDHC is testis-specific and belongs to the lactate dehydrogenase family.  Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008]	Acute-Phase Serum Amyloid A	Homozygous male mice are infertile. Spermatogenesis appears normal, but sperm motility decreases rapidly after their release from the epididymus. In vitro fertilization is blocked unless the zona pellucida is removed; even then, the rate of sperm penetration is lower than for wild-type sperm.	Pyruvate metabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006754;ATP biosynthetic process;IEA|GO:0019244;lactate biosynthetic process from pyruvate;IEA|GO:0019516;lactate oxidation;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHC			https://www.ncbi.nlm.nih.gov/omim/?term=150150	http://www.informatics.jax.org/searchtool/Search.do?query=LDHC&submit=Quick%0D%11864ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHC	rs2721126	0.908546	0	0	1	0	0	intronic	intronic	intronic	LDHC	LDHC	ENSG00000166796	Na	Na	Na	Na	Na	Na	Het;A>G	37;4|2	Hom;A>G	96;0|3
N	N	-	11	18460308	18460308	C	T	snp	intronic	 	 	 	 	LDHC	Ldhc	ENSG00000166796	lactate dehydrogenase C	chr11:18433854-18473605	 Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis.  LDHC is testis-specific and belongs to the lactate dehydrogenase family.  Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008]	Acute-Phase Serum Amyloid A	Homozygous male mice are infertile. Spermatogenesis appears normal, but sperm motility decreases rapidly after their release from the epididymus. In vitro fertilization is blocked unless the zona pellucida is removed; even then, the rate of sperm penetration is lower than for wild-type sperm.	Pyruvate metabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006754;ATP biosynthetic process;IEA|GO:0019244;lactate biosynthetic process from pyruvate;IEA|GO:0019516;lactate oxidation;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDHC			https://www.ncbi.nlm.nih.gov/omim/?term=150150	http://www.informatics.jax.org/searchtool/Search.do?query=LDHC&submit=Quick%0D%11864ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHC	rs2643856	0.907548	0	0	1	0	0	intronic	intronic	intronic	LDHC	LDHC	ENSG00000166796	Na	Na	Na	Na	Na	Na	Het;C>T	57;9|4	Hom;C>T	542;0|15
N	N	-	11	18631527	18631527	T	C	snp	ncRNA_exonic	 	 	 	 	SPTY2D1-AS1		ENSG00000247595		chr11:18621334-18631802						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SPTY2D1-AS1				http://www.informatics.jax.org/searchtool/Search.do?query=SPTY2D1-AS1&submit=Quick%0D%19875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTY2D1-AS1	rs11024731	0.190495	0.2551	0.2547	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SPTY2D1-AS1	SPTY2D1-AS1	ENSG00000247595	Na	Na	Na	Na	Na	Na	Het;T>C	1107;74|47	Hom;T>C	3228;0|113
N	N	-	11	18728650	18728650	T	C	snp	nonsynonymous SNV	A3391G	I1131V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IGSF22		ENSG00000179057	immunoglobulin superfamily member 22	chr11:18725852-18747777					GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA	GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGSF22				http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22	rs2289965	0.189097	0.3003	0.2593	0.08	1	12	exonic	exonic	exonic	IGSF22	IGSF22	ENSG00000179057	nonsynonymous SNV	nonsynonymous SNV	unknown	IGSF22:NM_173588:exon21:c.A3391G:p.I1131V,	IGSF22:uc009yht.2:exon21:c.A3391G:p.I1131V,	UNKNOWN	Het;T>C	700;66|36	Hom;T>C	2205;0|82
N	N	-	11	18730895	18730895	A	G	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs11024768	0.61861	0.6379	0.6835	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;A>G	634;12|27	Hom;A>G	1978;0|69
N	N	-	11	18733521	18733521	C	T	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs7128042	0.704872	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;C>T	34;2|2	Hom;C>T	126;0|4
N	N	-	11	18733579	18733579	T	C	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs10832972	0.704673	0.7140	0.7017	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;T>C	144;7|6	Hom;T>C	249;0|10
N	N	-	11	18735321	18735321	A	C	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs10766493	0.75639	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;A>C	127;2|5	Hom;A>C	146;0|5
N	N	-	11	18735396	18735396	G	T	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs10741752	0.75639	0.7757	0.7541	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;G>T	482;24|24	Hom;G>T	917;0|33
N	N	-	11	18735753	18735753	G	A	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs7106673	0.754393	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;G>A	956;40|46	Hom;G>A	2855;0|100
N	N	-	11	18736247	18736247	G	A	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs4265581	0.752596	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;G>A	785;21|29	Hom;G>A	788;0|27
N	N	-	11	18736942	18736942	G	A	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs3887900	0.61881	0.6334	0.6796	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;G>A	503;19|24	Hom;G>A	936;0|31
N	N	-	11	18737095	18737095	C	T	snp	nonsynonymous SNV	G1415A	R472Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	IGSF22		ENSG00000179057	immunoglobulin superfamily member 22	chr11:18725852-18747777					GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA	GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGSF22				http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22	rs4424652	0.749401	0.7576	0.7349	0.23	3	13	exonic	exonic	exonic	IGSF22	IGSF22	ENSG00000179057	nonsynonymous SNV	nonsynonymous SNV	unknown	IGSF22:NM_173588:exon11:c.G1415A:p.R472Q,	IGSF22:uc009yht.2:exon11:c.G1415A:p.R472Q,	UNKNOWN	Het;C>T	1857;119|94	Hom;C>T	4759;1|181
N	N	-	11	18738281	18738281	C	T	snp	nonsynonymous SNV	G1240A	V414I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IGSF22		ENSG00000179057	immunoglobulin superfamily member 22	chr11:18725852-18747777					GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA	GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGSF22				http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22	rs10766494	0.749002	0.7605	0.7349	0.23	3	13	exonic	exonic	exonic	IGSF22	IGSF22	ENSG00000179057	nonsynonymous SNV	nonsynonymous SNV	unknown	IGSF22:NM_173588:exon10:c.G1240A:p.V414I,	IGSF22:uc009yht.2:exon10:c.G1240A:p.V414I,	UNKNOWN	Het;C>T	403;26|21	Hom;C>T	1126;0|41
N	N	-	11	18738603	18738603	G	A	snp	ncRNA_intronic	 	 	 	 	AC103974.1																		rs10766495	0.7498	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IGSF22	IGSF22	ENSG00000254966	Na	Na	Na	Na	Na	Na	Het;G>A	420;42|22	Hom;G>A	1415;0|52
N	N	-	11	1907940	1907940	T	C	snp	intronic	 	 	 	 	LSP1	Lsp1	ENSG00000130592	lymphocyte-specific protein 1	chr13:25591541-25591675	This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Breast cancer; Inflammation|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; breast cancer; ovarian cancer; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative; Alcoholism	Homozygotes for a targeted null mutation exhibit increased numbers of resident peritoneal macrophages and reduced numbers of peritoneal lymphocytes. Mutant neutrophils show abnormal morphology and impaired chemokine-induced migration.		GO:0006928;movement of cell or subcellular component;TAS|GO:0006935;chemotaxis;IEA|GO:0006952;defense response;IEA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA	GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0004871;signal transducer activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSP1	https://www.uniprot.org/uniprot/P33241		https://www.ncbi.nlm.nih.gov/omim/?term=153432	http://www.informatics.jax.org/searchtool/Search.do?query=LSP1&submit=Quick%0D%6398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSP1	rs11041676	0.552716	0.4368	0.5222	1	0	0	intronic	intronic	intronic	LSP1	LSP1	ENSG00000130592	Na	Na	Na	Na	Na	Na	Het;T>C	1709;97|81	Hom;T>C	4457;0|165
N	N	-	11	19138991	19138991	G	C	snp	intronic	 	 	 	 	ZDHHC13	Zdhhc13	ENSG00000177054	zinc finger DHHC-type containing 13	chr11:19138646-19197969		Stroke	Mice homozygous for an ENU mutation display wasting, weight loss, hair loss (alopecia), reduced bone mineral density (osteoporosis), and generalized amyloid deposition, which resulted in early death.		GO:0007165;signal transduction;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004871;signal transducer activity;IMP|GO:0015095;magnesium ion transmembrane transporter activity;IEA|GO:0016409;palmitoyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC13			https://www.ncbi.nlm.nih.gov/omim/?term=612815	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC13&submit=Quick%0D%13961ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC13	rs3740964	0.0708866	0	0	1	0	0	intronic	intronic	intronic	ZDHHC13	ZDHHC13	ENSG00000177054	Na	Na	Na	Na	Na	Na	Het;G>C	47;4|4	Hom;G>C	138;0|4
N	N	-	11	19281165	19281173	GTCTATCTA	G	indel	ncRNA_intronic	 	 	 	 	AC009652.2																		rs200916046	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	E2F8(dist=17963),NAV2(dist=91098)	E2F8(dist=17963),NAV2(dist=91098)	ENSG00000255308	Na	Na	Na	Na	Na	Na	Het;-TCTATCTA	191;2|10	Hom;-TCTATCTA	548;0|12
N	N	-	11	19281177	19281177	A	G	snp	ncRNA_intronic	 	 	 	 	AC009652.2																		rs200547591	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	E2F8(dist=17975),NAV2(dist=91094)	E2F8(dist=17975),NAV2(dist=91094)	ENSG00000255308	Na	Na	Na	Na	Na	Na	Het;A>G	217;2|11	Hom;A>G	557;0|13
N	N	-	11	1943605	1943605	G	A	snp	intronic	 	 	 	 	TNNT3	Tnnt3	ENSG00000130595	troponin T3, fast skeletal type	chr11:1940792-1959936	The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]	Arthrogryposis|Clubfoot|; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects.	Striated Muscle Contraction	GO:0003009;skeletal muscle contraction;IDA|GO:0006937;regulation of muscle contraction;IEA|GO:0006942;regulation of striated muscle contraction;IDA|GO:0030049;muscle filament sliding;TAS|GO:0043462;regulation of ATPase activity;IDA	GO:0005829;cytosol;TAS|GO:0005861;troponin complex;IDA	GO:0003779;actin binding;IDA|GO:0005523;tropomyosin binding;IDA|GO:0030172;troponin C binding;IPI|GO:0030899;calcium-dependent ATPase activity;IDA|GO:0031013;troponin I binding;IPI|GO:0048306;calcium-dependent protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TNNT3	https://www.uniprot.org/uniprot/P45378	https://hpo.jax.org/app/browse/search?q=TNNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600692	http://www.informatics.jax.org/searchtool/Search.do?query=TNNT3&submit=Quick%0D%6399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNNT3	rs1398256	0.78135	0	0	1	0	0	intronic	intronic	intronic	TNNT3	TNNT3	ENSG00000130595	Na	Na	Na	Na	Na	Na	Het;G>A	998;53|49	Hom;G>A	2527;0|93
N	N	-	11	1943708	1943708	C	T	snp	intronic	 	 	 	 	TNNT3	Tnnt3	ENSG00000130595	troponin T3, fast skeletal type	chr11:1940792-1959936	The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]	Arthrogryposis|Clubfoot|; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects.	Striated Muscle Contraction	GO:0003009;skeletal muscle contraction;IDA|GO:0006937;regulation of muscle contraction;IEA|GO:0006942;regulation of striated muscle contraction;IDA|GO:0030049;muscle filament sliding;TAS|GO:0043462;regulation of ATPase activity;IDA	GO:0005829;cytosol;TAS|GO:0005861;troponin complex;IDA	GO:0003779;actin binding;IDA|GO:0005523;tropomyosin binding;IDA|GO:0030172;troponin C binding;IPI|GO:0030899;calcium-dependent ATPase activity;IDA|GO:0031013;troponin I binding;IPI|GO:0048306;calcium-dependent protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TNNT3	https://www.uniprot.org/uniprot/P45378	https://hpo.jax.org/app/browse/search?q=TNNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600692	http://www.informatics.jax.org/searchtool/Search.do?query=TNNT3&submit=Quick%0D%6399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNNT3	rs2334385	0.715256	0	0	1	0	0	intronic	intronic	intronic	TNNT3	TNNT3	ENSG00000130595	Na	Na	Na	Na	Na	Na	Het;C>T	1386;67|67	Hom;C>T	3396;0|126
N	N	-	11	1944202	1944202	A	G	snp	intronic	 	 	 	 	TNNT3	Tnnt3	ENSG00000130595	troponin T3, fast skeletal type	chr11:1940792-1959936	The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]	Arthrogryposis|Clubfoot|; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects.	Striated Muscle Contraction	GO:0003009;skeletal muscle contraction;IDA|GO:0006937;regulation of muscle contraction;IEA|GO:0006942;regulation of striated muscle contraction;IDA|GO:0030049;muscle filament sliding;TAS|GO:0043462;regulation of ATPase activity;IDA	GO:0005829;cytosol;TAS|GO:0005861;troponin complex;IDA	GO:0003779;actin binding;IDA|GO:0005523;tropomyosin binding;IDA|GO:0030172;troponin C binding;IPI|GO:0030899;calcium-dependent ATPase activity;IDA|GO:0031013;troponin I binding;IPI|GO:0048306;calcium-dependent protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TNNT3	https://www.uniprot.org/uniprot/P45378	https://hpo.jax.org/app/browse/search?q=TNNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600692	http://www.informatics.jax.org/searchtool/Search.do?query=TNNT3&submit=Quick%0D%6399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNNT3	rs965912	0.779752	0.7234	0	1	0	0	intronic	intronic	intronic	TNNT3	TNNT3	ENSG00000130595	Na	Na	Na	Na	Na	Na	Het;A>G	1832;82|79	Hom;A>G	4321;0|155
N	N	-	11	1944636	1944636	A	T	snp	intronic	 	 	 	 	TNNT3	Tnnt3	ENSG00000130595	troponin T3, fast skeletal type	chr11:1940792-1959936	The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]	Arthrogryposis|Clubfoot|; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects.	Striated Muscle Contraction	GO:0003009;skeletal muscle contraction;IDA|GO:0006937;regulation of muscle contraction;IEA|GO:0006942;regulation of striated muscle contraction;IDA|GO:0030049;muscle filament sliding;TAS|GO:0043462;regulation of ATPase activity;IDA	GO:0005829;cytosol;TAS|GO:0005861;troponin complex;IDA	GO:0003779;actin binding;IDA|GO:0005523;tropomyosin binding;IDA|GO:0030172;troponin C binding;IPI|GO:0030899;calcium-dependent ATPase activity;IDA|GO:0031013;troponin I binding;IPI|GO:0048306;calcium-dependent protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TNNT3	https://www.uniprot.org/uniprot/P45378	https://hpo.jax.org/app/browse/search?q=TNNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600692	http://www.informatics.jax.org/searchtool/Search.do?query=TNNT3&submit=Quick%0D%6399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNNT3	rs2734500	0.810503	0	0	1	0	0	intronic	intronic	intronic	TNNT3	TNNT3	ENSG00000130595	Na	Na	Na	Na	Na	Na	Het;A>T	692;21|34	Hom;A>T	1665;0|60
N	N	-	11	195109	195109	T	C	snp	downstream	 	 	 	 	SCGB1C1		ENSG00000188076	secretoglobin family 1C member 1	chr11:193080-194573						GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SCGB1C1			https://www.ncbi.nlm.nih.gov/omim/?term=610176	http://www.informatics.jax.org/searchtool/Search.do?query=SCGB1C1&submit=Quick%0D%15962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCGB1C1	rs2948215	0	0	0	1	0	0	downstream	downstream	intronic	SCGB1C1,SCGB1C2	SCGB1C1	ENSG00000177951	Na	Na	Na	Na	Na	Na	Het;T>C	48;2|3	Hom;T>C	154;0|6
N	N	-	11	20099112	20099112	A	T	snp	synonymous SNV	A1884T	A628A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NAV2	Nav2	ENSG00000166833	neuron navigator 2	chr11:19372271-20143144	This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Tobacco Use Disorder	Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss.		GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAV2			https://www.ncbi.nlm.nih.gov/omim/?term=607026	http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2	rs4757028	0.908546	0.8743	0.8957	1	0	0	exonic	exonic	exonic	NAV2	NAV2	ENSG00000166833	synonymous SNV	synonymous SNV	unknown	NAV2:NM_182964:exon23:c.A4998T:p.A1666A,NAV2:NM_001111019:exon13:c.A2190T:p.A730A,NAV2:NM_001111018:exon23:c.A4806T:p.A1602A,NAV2:NM_001244963:exon25:c.A5166T:p.A1722A,NAV2:NM_145117:exon23:c.A4998T:p.A1666A,	NAV2:uc009yhy.1:exon11:c.A1884T:p.A628A,NAV2:uc001mpt.2:exon11:c.A2145T:p.A715A,NAV2:uc009yhz.3:exon7:c.A933T:p.A311A,NAV2:uc001mpu.3:exon5:c.A312T:p.A104A,NAV2:uc031pzj.1:exon25:c.A5166T:p.A1722A,NAV2:uc001mpr.4:exon23:c.A4998T:p.A1666A,NAV2:uc009yhx.4:exon13:c.A2190T:p.A730A,NAV2:uc021qew.1:exon23:c.A4998T:p.A1666A,NAV2:uc010rdm.2:exon25:c.A5166T:p.A1722A,NAV2:uc001mpp.3:exon23:c.A4806T:p.A1602A,	UNKNOWN	Het;A>T	876;43|44	Hom;A>T	1337;0|52
N	N	-	11	20178551	20178552	CG	C	indel	intronic	 	 	 	 	DBX1	Dbx1	ENSG00000109851	developing brain homeobox 1	chr11:20177701-20182159		Waist-Hip Ratio; Metabolism	Mice homozygous for disruptions of this gene die at birth.  V0 interneurons develop as V1 or dl6 interneurons.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0021521;ventral spinal cord interneuron specification;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DBX1	https://www.uniprot.org/uniprot/A6NMT0			http://www.informatics.jax.org/searchtool/Search.do?query=DBX1&submit=Quick%0D%3893ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DBX1	rs10717537	0.627995	0	0.6496	1	0	0	intronic	intronic	intronic	DBX1	DBX1	ENSG00000109851	Na	Na	Na	Na	Na	Na	Het;-G	106;7|6	Hom;-G	482;0|17
N	N	-	11	206089	206089	G	A	snp	intronic	 	 	 	 	BET1L	Bet1l	ENSG00000177951	Bet1 golgi vesicular membrane trafficking protein like	chr11:167784-207428		Platelet Count; mean platelet volume; Fibromyoma; Intracranial Aneurysm	 	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0061025;membrane fusion;IEA|GO:2000156;regulation of retrograde vesicle-mediated transport, Golgi to ER;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;TAS	GO:0005484;SNAP receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BET1L			https://www.ncbi.nlm.nih.gov/omim/?term=615417	http://www.informatics.jax.org/searchtool/Search.do?query=BET1L&submit=Quick%0D%14109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BET1L	rs3782120	0.180312	0.2141	0.2295	1	0	0	intronic	intronic	intronic	BET1L	BET1L	ENSG00000177951	Na	Na	Na	Na	Na	Na	Het;G>A	111;14|9	Hom;G>A	832;0|31
N	N	-	11	20622975	20622975	G	A	snp	nonsynonymous SNV	G304A	G102S	aliphatic,neutral	polar,hydrophilic,neutral	SLC6A5	Slc6a5	ENSG00000165970	solute carrier family 6 member 5	chr11:20620946-20680831	This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated	Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth.	Na+/Cl- dependent neurotransmitter transporters	GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5		https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604159	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5	rs1443547	0.405751	0.3694	0.4067	0.08	1	13	exonic	exonic	exonic	SLC6A5	SLC6A5	ENSG00000165970	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC6A5:NM_004211:exon2:c.G304A:p.G102S,	SLC6A5:uc001mqd.3:exon2:c.G304A:p.G102S,	UNKNOWN	Het;G>A	1086;50|49	Hom;G>A	2608;0|97
N	N	-	11	20626106	20626106	C	G	snp	intronic	 	 	 	 	SLC6A5	Slc6a5	ENSG00000165970	solute carrier family 6 member 5	chr11:20620946-20680831	This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated	Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth.	Na+/Cl- dependent neurotransmitter transporters	GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5		https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604159	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5	rs894750	0.322085	0	0	1	0	0	intronic	intronic	intronic	SLC6A5	SLC6A5	ENSG00000165970	Na	Na	Na	Na	Na	Na	Het;C>G	168;9|7	Hom;C>G	230;0|8
N	N	-	11	20658679	20658679	C	A	snp	intronic	 	 	 	 	SLC6A5	Slc6a5	ENSG00000165970	solute carrier family 6 member 5	chr11:20620946-20680831	This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated	Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth.	Na+/Cl- dependent neurotransmitter transporters	GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5		https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604159	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5	rs2000959	0.339058	0.2660	0.3534	1	0	0	intronic	intronic	intronic	SLC6A5	SLC6A5	ENSG00000165970	Na	Na	Na	Na	Na	Na	Het;C>A	691;39|32	Hom;C>A	1970;1|73
N	N	-	11	207254	207255	CG	C	indel	intronic	 	 	 	 	BET1L	Bet1l	ENSG00000177951	Bet1 golgi vesicular membrane trafficking protein like	chr11:167784-207428		Platelet Count; mean platelet volume; Fibromyoma; Intracranial Aneurysm	 	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0061025;membrane fusion;IEA|GO:2000156;regulation of retrograde vesicle-mediated transport, Golgi to ER;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;TAS	GO:0005484;SNAP receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BET1L			https://www.ncbi.nlm.nih.gov/omim/?term=615417	http://www.informatics.jax.org/searchtool/Search.do?query=BET1L&submit=Quick%0D%14109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BET1L	rs143657869	0.173522	0.1813	0.2263	1	0	0	intronic	intronic	intronic	BET1L	BET1L	ENSG00000177951	Na	Na	Na	Na	Na	Na	Het;-G	345;12|9	Hom;-G	725;0|16
N	N	-	11	207275	207275	C	G	snp	intronic	 	 	 	 	BET1L	Bet1l	ENSG00000177951	Bet1 golgi vesicular membrane trafficking protein like	chr11:167784-207428		Platelet Count; mean platelet volume; Fibromyoma; Intracranial Aneurysm	 	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0061025;membrane fusion;IEA|GO:2000156;regulation of retrograde vesicle-mediated transport, Golgi to ER;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;TAS	GO:0005484;SNAP receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BET1L			https://www.ncbi.nlm.nih.gov/omim/?term=615417	http://www.informatics.jax.org/searchtool/Search.do?query=BET1L&submit=Quick%0D%14109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BET1L	rs6598075	0.24401	0.1952	0.2877	1	0	0	intronic	intronic	intronic	BET1L	BET1L	ENSG00000177951	Na	Na	Na	Na	Na	Na	Het;C>G	432;16|15	Hom;C>G	904;0|23
N	N	-	11	207400	207400	A	G	snp	UTR5	-79T>C	 	 	 	BET1L	Bet1l	ENSG00000177951	Bet1 golgi vesicular membrane trafficking protein like	chr11:167784-207428		Platelet Count; mean platelet volume; Fibromyoma; Intracranial Aneurysm	 	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0061025;membrane fusion;IEA|GO:2000156;regulation of retrograde vesicle-mediated transport, Golgi to ER;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;TAS	GO:0005484;SNAP receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BET1L			https://www.ncbi.nlm.nih.gov/omim/?term=615417	http://www.informatics.jax.org/searchtool/Search.do?query=BET1L&submit=Quick%0D%14109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BET1L	rs71487219	0.592652	0	0	1	0	0	UTR5	UTR5	UTR5	BET1L(NM_001098787:c.-79T>C,NM_016526:c.-79T>C)	BET1L(uc001loe.2:c.-79T>C,uc001lod.2:c.-79T>C)	ENSG00000177951(ENST00000382762:c.-79T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	182;1|8	Hom;A>G	324;0|9
N	N	-	11	214163	214163	G	A	snp	intronic	 	 	 	 	RIC8A	Ric8a	ENSG00000177963	RIC8 guanine nucleotide exchange factor A	chr11:207511-215113			Homozygous mutation of this gene results in lethality during gastrulation. Heterozygotes exhibit impaired spatial learning and increased anxiety.		GO:0001701;in utero embryonic development;IEA|GO:0001944;vasculature development;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IEA|GO:0007369;gastrulation;IEA|GO:0008542;visual learning;IEA|GO:0009416;response to light stimulus;IEA|GO:0042074;cell migration involved in gastrulation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0070586;cell-cell adhesion involved in gastrulation;IEA|GO:0071711;basement membrane organization;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA	GO:0001965;G-protein alpha-subunit binding;IBA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RIC8A			https://www.ncbi.nlm.nih.gov/omim/?term=609146	http://www.informatics.jax.org/searchtool/Search.do?query=RIC8A&submit=Quick%0D%14111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC8A	rs1533825	0.179712	0	0.2706	1	0	0	intronic	intronic	intronic	RIC8A	RIC8A	ENSG00000177963	Na	Na	Na	Na	Na	Na	Het;G>A	778;37|22	Hom;G>A	2195;2|50
N	N	-	11	214169	214169	T	C	snp	intronic	 	 	 	 	RIC8A	Ric8a	ENSG00000177963	RIC8 guanine nucleotide exchange factor A	chr11:207511-215113			Homozygous mutation of this gene results in lethality during gastrulation. Heterozygotes exhibit impaired spatial learning and increased anxiety.		GO:0001701;in utero embryonic development;IEA|GO:0001944;vasculature development;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IEA|GO:0007369;gastrulation;IEA|GO:0008542;visual learning;IEA|GO:0009416;response to light stimulus;IEA|GO:0042074;cell migration involved in gastrulation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0070586;cell-cell adhesion involved in gastrulation;IEA|GO:0071711;basement membrane organization;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA	GO:0001965;G-protein alpha-subunit binding;IBA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RIC8A			https://www.ncbi.nlm.nih.gov/omim/?term=609146	http://www.informatics.jax.org/searchtool/Search.do?query=RIC8A&submit=Quick%0D%14111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC8A	rs1533824	0.195088	0	0.3279	1	0	0	intronic	intronic	intronic	RIC8A	RIC8A	ENSG00000177963	Na	Na	Na	Na	Na	Na	Het;T>C	816;41|24	Hom;T>C	2280;2|55
N	N	-	11	22214877	22214877	A	AAGGAGGAGGGGAATGAGGAGGAGG	indel	UTR5	-162A>AAGGAGGAGGGGAATGAGGAGGAGG	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs139514865	0.78135	0	0	1	0	0	UTR5	UTR5	UTR5	ANO5(NM_001142649:c.-162A>AAGGAGGAGGGGAATGAGGAGGAGG,NM_213599:c.-162A>AAGGAGGAGGGGAATGAGGAGGAGG)	ANO5(uc001mqi.2:c.-162A>AAGGAGGAGGGGAATGAGGAGGAGG,uc001mqj.2:c.-162A>AAGGAGGAGGGGAATGAGGAGGAGG)	ENSG00000171714(ENST00000324559:c.-162A>AAGGAGGAGGGGAATGAGGAGGAGG)	Na	Na	Na	Na	Na	Na	Het;+AGGAGGAGGGGAATGAGGAGGAGG	473;32|14	Hom;+AGGAGGAGGGGAATGAGGAGGAGG	2217;0|33
N	N	-	11	22214903	22214903	G	C	snp	UTR5	-136G>C	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs12792259	0.789936	0	0	1	0	0	UTR5	UTR5	UTR5	ANO5(NM_001142649:c.-136G>C,NM_213599:c.-136G>C)	ANO5(uc001mqi.2:c.-136G>C,uc001mqj.2:c.-136G>C)	ENSG00000171714(ENST00000324559:c.-136G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	857;39|38	Hom;G>C	2023;0|71
N	N	-	11	22233029	22233029	G	A	snp	intronic	 	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs4922980	0.576478	0	0	1	0	0	intronic	intronic	intronic	ANO5	ANO5	ENSG00000171714	Na	Na	Na	Na	Na	Na	Het;G>A	1040;111|57	Hom;G>A	3267;0|123
N	N	-	11	22233066	22233066	T	C	snp	intronic	 	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs4922981	0.574281	0	0	1	0	0	intronic	intronic	intronic	ANO5	ANO5	ENSG00000171714	Na	Na	Na	Na	Na	Na	Het;T>C	1050;102|55	Hom;T>C	3045;0|118
N	N	-	11	2223474	2223474	C	T	snp	intergenic	 	 	 	 	MIR4686																		rs11043076	0.175519	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4686(dist=29106),ASCL2(dist=66254)	MIR4686(dist=29106),ASCL2(dist=66254)	ENSG00000265258(dist=29106),ENSG00000183734(dist=66251)	Na	Na	Na	Na	Na	Na	Het;C>T	92;1|5	Hom;C>T	71;0|4
N	N	-	11	22240056	22240056	G	A	snp	intronic	 	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs4620717	0.789936	0	0	1	0	0	intronic	intronic	intronic	ANO5	ANO5	ENSG00000171714	Na	Na	Na	Na	Na	Na	Het;G>A	460;25|24	Hom;G>A	1775;0|70
N	N	-	11	22240112	22240112	T	C	snp	intronic	 	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs4543996	0.59405	0	0	1	0	0	intronic	intronic	intronic	ANO5	ANO5	ENSG00000171714	Na	Na	Na	Na	Na	Na	Het;T>C	468;17|22	Hom;T>C	1258;0|49
N	N	-	11	22242729	22242729	T	C	snp	synonymous SNV	T264C	D88D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs4312063	0.789936	0.8444	0.7772	1	0	0	exonic	exonic	exonic	ANO5	ANO5	ENSG00000171714	synonymous SNV	synonymous SNV	unknown	ANO5:NM_001142649:exon5:c.T264C:p.D88D,ANO5:NM_213599:exon5:c.T267C:p.D89D,	ANO5:uc001mqj.2:exon5:c.T264C:p.D88D,ANO5:uc001mqi.2:exon5:c.T267C:p.D89D,	UNKNOWN	Het;T>C	1215;65|53	Hom;T>C	4017;0|151
N	N	-	11	22247205	22247205	A	G	snp	intronic	 	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs4509753	0.789936	0	0	1	0	0	intronic	intronic	intronic	ANO5	ANO5	ENSG00000171714	Na	Na	Na	Na	Na	Na	Het;A>G	737;30|37	Hom;A>G	1187;0|45
N	N	-	11	22281494	22281494	G	GA	indel	intronic	 	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs138701515	0.334265	0	0	1	0	0	intronic	intronic	intronic	ANO5	ANO5	ENSG00000171714	Na	Na	Na	Na	Na	Na	Het;+A	192;13|15	Hom;+A	520;6|29
N	N	-	11	22301807	22301807	A	G	snp	UTR3	*496A>G	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs10766930	0.444089	0	0	1	0	0	UTR3	UTR3	UTR3	ANO5(NM_001142649:c.*496A>G,NM_213599:c.*496A>G)	ANO5(uc001mqi.2:c.*496A>G,uc001mqj.2:c.*496A>G)	ENSG00000171714(ENST00000324559:c.*496A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	251;18|13	Hom;A>G	1252;0|45
N	N	-	11	22302597	22302597	G	T	snp	UTR3	*1286G>T	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs7925081	0.567492	0	0	1	0	0	UTR3	UTR3	UTR3	ANO5(NM_001142649:c.*1286G>T,NM_213599:c.*1286G>T)	ANO5(uc001mqi.2:c.*1286G>T,uc001mqj.2:c.*1286G>T)	ENSG00000171714(ENST00000324559:c.*1286G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	738;35|34	Hom;G>T	2018;0|74
N	N	-	11	22303067	22303068	GA	G	indel	UTR3	*1756_*1757delinsG	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs35692634	0.470248	0	0	1	0	0	UTR3	UTR3	UTR3	ANO5(NM_001142649:c.*1756_*1757delinsG,NM_213599:c.*1756_*1757delinsG)	ANO5(uc001mqi.2:c.*1756_*1757delinsG,uc001mqj.2:c.*1756_*1757delinsG)	ENSG00000171714(ENST00000324559:c.*1756_*1757delinsG)	Na	Na	Na	Na	Na	Na	Het;-A	402;16|20	Hom;-A	1149;0|42
N	N	-	11	22303200	22303204	TAAGA	T	indel	UTR3	*1889_*1893delinsT	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs397786204	0.452676	0	0	1	0	0	UTR3	UTR3	UTR3	ANO5(NM_001142649:c.*1889_*1893delinsT,NM_213599:c.*1889_*1893delinsT)	ANO5(uc001mqi.2:c.*1889_*1893delinsT,uc001mqj.2:c.*1889_*1893delinsT)	ENSG00000171714(ENST00000324559:c.*1889_*1893delinsT)	Na	Na	Na	Na	Na	Na	Het;-AAGA	954;25|26	Hom;-AAGA	1510;1|36
N	N	-	11	22304489	22304489	C	G	snp	UTR3	*3178C>G	 	 	 	ANO5	Ano5	ENSG00000171714	anoctamin 5	chr11:22214722-22304903	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]	miyoshi muscular dystrophy type 3 (MMD3)	One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.	Stimuli-sensing channels	GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO5		https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608662	http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5	rs6483841	0.692891	0	0	1	0	0	UTR3	UTR3	UTR3	ANO5(NM_001142649:c.*3178C>G,NM_213599:c.*3178C>G)	ANO5(uc001mqi.2:c.*3178C>G,uc001mqj.2:c.*3178C>G)	ENSG00000171714(ENST00000324559:c.*3178C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	593;55|26	Hom;C>G	1536;0|57
N	N	-	11	22770922	22770922	G	T	snp	intronic	 	 	 	 	GAS2	Gas2	ENSG00000148935	growth arrest specific 2	chr11:22647188-22834601	The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]	Heart Diseases; Mortality; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Narcolepsy; Diabetes Mellitus, Type 2	Null females have reduced fertility. Oocyte cyst breakdown is disrupted and follicle growth is impaired, with reduced antral follicle and corpora lutea numbers, and disrupted basal lamina surrounding follicles.	Caspase-mediated cleavage of cytoskeletal proteins	GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0008360;regulation of cell shape;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;TAS|GO:0016020;membrane;IEA	GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GAS2	https://www.uniprot.org/uniprot/O43903		https://www.ncbi.nlm.nih.gov/omim/?term=602835	http://www.informatics.jax.org/searchtool/Search.do?query=GAS2&submit=Quick%0D%9175ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS2	rs2270755	0.398962	0	0	1	0	0	intronic	intronic	intronic	GAS2	GAS2	ENSG00000148935	Na	Na	Na	Na	Na	Na	Het;G>T	157;4|6	Hom;G>T	418;0|14
N	N	-	11	22880918	22880918	T	G	snp	ncRNA_intronic	 	 	 	 	AC006299.1																		rs3213707	0.283546	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CCDC179	CCDC179	ENSG00000246225	Na	Na	Na	Na	Na	Na	Het;T>G	172;7|7	Hom;T>G	282;0|10
N	N	-	11	23540793	23540793	C	T	snp	intergenic	 	 	 	 	THAP12P4																		rs12224604	0.711062	0	0	1	0	0	intergenic	intergenic	intergenic	MIR8054(dist=100057),LUZP2(dist=977723)	CCDC179(dist=658821),endogenousretrovirusERV9(dist=418562)	ENSG00000254465(dist=38817),ENSG00000240881(dist=1075)	Na	Na	Na	Na	Na	Na	Het;C>T	191;22|12	Hom;C>T	830;0|31
N	N	-	11	23540838	23540838	C	T	snp	intergenic	 	 	 	 	THAP12P4																		rs10834125	0.736621	0	0	1	0	0	intergenic	intergenic	intergenic	MIR8054(dist=100102),LUZP2(dist=977678)	CCDC179(dist=658866),endogenousretrovirusERV9(dist=418517)	ENSG00000254465(dist=38862),ENSG00000240881(dist=1030)	Na	Na	Na	Na	Na	Na	Het;C>T	69;10|4	Hom;C>T	572;0|22
N	N	-	11	23940727	23940727	C	T	snp	intergenic	 	 	 	 	RNU6-783P																		rs11027623	0.150359	0	0	1	0	0	intergenic	intergenic	intergenic	MIR8054(dist=499991),LUZP2(dist=577789)	CCDC179(dist=1058755),endogenousretrovirusERV9(dist=18628)	ENSG00000252519(dist=69299),ENSG00000254594(dist=316296)	Na	Na	Na	Na	Na	Na	Het;C>T	817;53|41	Hom;C>T	1652;0|65
N	N	-	11	25037948	25037948	T	G	snp	intronic	 	 	 	 	LUZP2	Luzp2	ENSG00000187398	leucine zipper protein 2	chr11:24518516-25104150	This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	serum markers of iron status; Tobacco Use Disorder	Homozygous null mice are viable, fertile, and show no overt abnormalities.			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LUZP2			https://www.ncbi.nlm.nih.gov/omim/?term=608178	http://www.informatics.jax.org/searchtool/Search.do?query=LUZP2&submit=Quick%0D%15821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LUZP2	rs1596850	0.577476	0	0	1	0	0	intronic	intronic	intronic	LUZP2	LUZP2	ENSG00000187398	Na	Na	Na	Na	Na	Na	Het;T>G	227;11|10	Hom;T>G	957;0|26
N	N	-	11	25038002	25038002	C	T	snp	intronic	 	 	 	 	LUZP2	Luzp2	ENSG00000187398	leucine zipper protein 2	chr11:24518516-25104150	This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	serum markers of iron status; Tobacco Use Disorder	Homozygous null mice are viable, fertile, and show no overt abnormalities.			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LUZP2			https://www.ncbi.nlm.nih.gov/omim/?term=608178	http://www.informatics.jax.org/searchtool/Search.do?query=LUZP2&submit=Quick%0D%15821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LUZP2	rs1596849	0.422125	0	0	1	0	0	intronic	intronic	intronic	LUZP2	LUZP2	ENSG00000187398	Na	Na	Na	Na	Na	Na	Het;C>T	90;2|4	Hom;C>T	106;0|4
N	N	-	11	2511527	2511527	C	T	snp	intronic	 	 	 	 	KCNQ1	Kcnq1	ENSG00000282076	potassium voltage-gated channel subfamily Q member 1	chr11:2465914-2870339	This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]	Type 2 diabetes; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; Arrhythmias, Cardiac|Myocardial Infarction; Diabetes, Gestational|Gestational diabetes mellitus |Insulin Resistance; diabetes, type 2; Diabetes Mellitus, Type 2|; Platelet Count; depression | long QT syndrome; Arrhythmias, Cardiac|; Long QT Syndrome; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Myocardial Infarction; Jervell and Lange-Nielsen syndrome; obesity; Electrocardiography; Arrhythmias, Cardiac|Brugada Syndrome|Cardiomyopathies|Channelopathies|Death, Sudden, Cardiac|Sudden Cardiac Death; Sudden Infant Death; Death, Sudden; Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Long QT Syndrome; Tobacco Use Disorder; antisense paternal transcript and loss of imprinting; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Arrhythmias, Cardiac|Heart Arrest|Long QT Syndrome|Syncope; L-Lactate Dehydrogenase; Arteries; EKG, abnormal; Diabetes Mellitus, Type 2; long-QT syndrome; Gastroparesis; Hearing Loss, Noise-Induced; null; Long QT Syndrome|Sudden Infant Death; Type 2 Diabetes| edema | rosiglitazone; SIDS/sudden infant death syndrome; atrial fibrillation; Diabetes Mellitus, Type 2|Diabetes, Gestational|; Type 2 diabetes|reduced prostate cancer risk; Long QT syndrome; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; hearing impairment|Hearing Loss; Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Dyslipidemias; Platelet Aggregation; pharmacogenetic studies; QT interval; protein quantitative trait loci; Fibrinogen; Atrioventricular Block|Death, Sudden|Syncope|Torsades de Pointes; type 2 diabetes; EKG, abnormal; Brugada syndrome; long QT syndrome; normal and arrhythmia; Hyperparathyroidism, Secondary; Body Height; hearing loss, noise-induced; Diabetes Mellitus, Type 2|Long QT Syndrome; Brugada Syndrome|Chromosome Deletion|Death, Sudden, Cardiac|Long QT Syndrome|Sudden Cardiac Death	Homozygous targeted null or spontaneous mutants show circling and head-tossing behavior and are deaf with inner ear dysmorphology. Paternal inheritance of a deletion of an imprinted control region within an intron of this gene results in small body size.		GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0008076;voltage-gated potassium channel complex;IEA	GO:0005249;voltage-gated potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNQ1		https://hpo.jax.org/app/browse/search?q=KCNQ1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607542	http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ1&submit=Quick%0D%22395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ1	rs1080015	0.504792	0	0	1	0	0	intronic	intronic	intronic	KCNQ1	KCNQ1	ENSG00000053918	Na	Na	Na	Na	Na	Na	Het;C>T	287;26|17	Hom;C>T	674;3|31
N	N	-	11	25800146	25800148	AAG	A	indel	ncRNA_intronic	 	 	 	 	AC090592.1																		rs10611523	0.444089	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LUZP2(dist=695960),ANO3(dist=553530)	LUZP2(dist=695960),ANO3(dist=410681)	ENSG00000254456	Na	Na	Na	Na	Na	Na	Het;-AG	498;2|14	Hom;-AG	233;0|6
N	N	-	11	26331348	26331349	CA	C	indel	intronic	 	 	 	 	ANO3	Ano3	ENSG00000134343	anoctamin 3	chr11:26210829-26684835	The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Body Weight Changes; Coronary Artery Disease; Body Mass Index; Waist Circumference; C-Reactive Protein; Schizophrenia; Obesity; Cholesterol; Tobacco Use Disorder	 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0050982;detection of mechanical stimulus;IEA|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO3	https://www.uniprot.org/uniprot/Q9BYT9	https://hpo.jax.org/app/browse/search?q=ANO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610110	http://www.informatics.jax.org/searchtool/Search.do?query=ANO3&submit=Quick%0D%6965ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO3	rs75547075	0.4375	0	0	1	0	0	intergenic	intronic	intronic	LUZP2(dist=1227162),ANO3(dist=22329)	ANO3	ENSG00000134343	Na	Na	Na	Na	Na	Na	Het;-A	287;12|13	Hom;-A	1166;0|32
N	N	-	11	2639712	2639712	G	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs11023485	0.33147	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;G>A	1700;92|86	Hom;G>A	4718;2|178
N	N	-	11	2648624	2648624	G	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs11023535	0.678315	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;G>A	1461;39|65	Hom;G>A	3763;0|143
N	N	-	11	2652657	2652657	T	G	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs10832417	0.419728	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;T>G	1783;99|99	Hom;T>G	3715;8|163
N	N	-	11	2654673	2654673	G	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs10832430	0.353035	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;G>A	923;44|47	Hom;G>A	2219;0|86
N	N	-	11	2673575	2673575	G	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs6578283	0.657947	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;G>A	1553;104|79	Hom;G>A	4590;1|169
N	N	-	11	2688526	2688526	G	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs10832514	0.447684	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;G>A	896;33|41	Hom;G>A	1582;0|57
N	N	-	11	2690293	2690293	A	C	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs151212	0.579473	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;A>C	1665;80|68	Hom;A>C	3564;0|114
N	N	-	11	2691500	2691500	G	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs231361	0.445687	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;G>A	1444;93|70	Hom;G>A	3189;0|122
N	N	-	11	2692249	2692249	C	T	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs231360	0.639177	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;C>T	1206;52|58	Hom;C>T	2692;0|95
N	N	-	11	2692322	2692335	GGCAGTTAGTCTGA	G	indel	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs144613775	0.597045	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;-GCAGTTAGTCTGA	3713;93|97	Hom;-GCAGTTAGTCTGA	5311;3|125
N	N	-	11	2692899	2692900	CA	C	indel	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs5789260	0.332668	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;-A	2805;84|85	Hom;-A	5619;0|144
N	N	-	11	2694606	2694606	C	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs231359	0.480631	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;C>A	1200;72|61	Hom;C>A	3112;0|109
N	N	-	11	2705343	2705343	A	T	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs231356	0.436701	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;A>T	1632;68|71	Hom;A>T	4260;0|151
N	N	-	11	2713649	2713649	C	A	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs231350	0.561102	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;C>A	1060;73|52	Hom;C>A	3120;0|112
N	N	-	11	2717680	2717680	C	T	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs463924	0.488818	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;C>T	1836;52|81	Hom;C>T	3461;0|131
N	N	-	11	2719389	2719389	T	C	snp	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs10741690	0.696286	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;T>C	2133;118|94	Hom;T>C	5800;2|201
N	N	-	11	2719674	2719675	AC	A	indel	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs35957135	0.468251	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;-C	3356;129|110	Hom;-C	6796;2|186
N	N	-	11	2720717	2720744	GGGAGAGTGCCGCGCTGAGGAGCCCCCA	G	indel	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		rs562085347	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;-GGAGAGTGCCGCGCTGAGGAGCCCCCA	1325;58|39	Hom;-GGAGAGTGCCGCGCTGAGGAGCCCCCA	3976;2|93
N	N	-	11	2720871	2720871	G	GAGA	indel	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		Na	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;+AGA	1087;22|30	Hom;+AGA	2815;0|70
N	N	-	11	2720873	2720873	C	CCGCGCCGAAGAACCCCCGGGGAG	indel	ncRNA_exonic	 	 	 	 	KCNQ1OT1																		Na	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1OT1	KCNQ1OT1	ENSG00000269821	Na	Na	Na	Na	Na	Na	Het;+CGCGCCGAAGAACCCCCGGGGAG	1468;22|32	Hom;+CGCGCCGAAGAACCCCCGGGGAG	3143;0|71
N	N	-	11	2880009	2880009	A	C	snp	ncRNA_exonic	 	 	 	 	KCNQ1-AS1																		rs10832835	0.604233	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	KCNQ1-AS1	KCNQ1(dist=9669),KCNQ1DN(dist=11254)	ENSG00000229414	Na	Na	Na	Na	Na	Na	Het;A>C	226;22|11	Hom;A>C	892;0|31
N	N	-	11	2891965	2891965	A	G	snp	ncRNA_exonic	 	 	 	 	KCNQ1DN																		rs2239897	0.213458	0.0646	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KCNQ1DN	KCNQ1DN	ENSG00000237941	Na	Na	Na	Na	Na	Na	Het;A>G	1565;85|69	Hom;A>G	2734;0|94
N	N	-	11	30253318	30253318	A	T	snp	intronic	 	 	 	 	FSHB	Fshb	ENSG00000131808	follicle stimulating hormone beta subunit	chr11:30252563-30256808	The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	FSH level in men; polycystic ovarian syndrome; polycystic ovary syndrome.; epithelial ovarian cancer ; Infertility, Male; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Autism; breast cancer|prostate cancer; prostate cancer	Females homozygous for a targeted null mutation are sterile with a preantral block in folliculogenesis. Mutant males have small testes and reduced Sertoli and germ cell numbers, but are fertile.	G alpha (s) signalling events	GO:0001541;ovarian follicle development;IEA|GO:0006701;progesterone biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IEP|GO:0007267;cell-cell signaling;IBA|GO:0007292;female gamete generation;TAS|GO:0007565;female pregnancy;TAS|GO:0008284;positive regulation of cell proliferation;NAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0016486;peptide hormone processing;TAS|GO:0030335;positive regulation of cell migration;NAS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;NAS|GO:0060011;Sertoli cell proliferation;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0016913;follicle-stimulating hormone activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FSHB	https://www.uniprot.org/uniprot/P01225	https://hpo.jax.org/app/browse/search?q=FSHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136530	http://www.informatics.jax.org/searchtool/Search.do?query=FSHB&submit=Quick%0D%6591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSHB	rs611246	0.528155	0	0	1	0	0	intronic	intronic	intronic	FSHB	FSHB	ENSG00000131808	Na	Na	Na	Na	Na	Na	Het;A>T	92;3|4	Hom;A>T	159;0|6
N	N	-	11	30253641	30253641	T	C	snp	intronic	 	 	 	 	FSHB	Fshb	ENSG00000131808	follicle stimulating hormone beta subunit	chr11:30252563-30256808	The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	FSH level in men; polycystic ovarian syndrome; polycystic ovary syndrome.; epithelial ovarian cancer ; Infertility, Male; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Autism; breast cancer|prostate cancer; prostate cancer	Females homozygous for a targeted null mutation are sterile with a preantral block in folliculogenesis. Mutant males have small testes and reduced Sertoli and germ cell numbers, but are fertile.	G alpha (s) signalling events	GO:0001541;ovarian follicle development;IEA|GO:0006701;progesterone biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IEP|GO:0007267;cell-cell signaling;IBA|GO:0007292;female gamete generation;TAS|GO:0007565;female pregnancy;TAS|GO:0008284;positive regulation of cell proliferation;NAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0016486;peptide hormone processing;TAS|GO:0030335;positive regulation of cell migration;NAS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;NAS|GO:0060011;Sertoli cell proliferation;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0016913;follicle-stimulating hormone activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FSHB	https://www.uniprot.org/uniprot/P01225	https://hpo.jax.org/app/browse/search?q=FSHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136530	http://www.informatics.jax.org/searchtool/Search.do?query=FSHB&submit=Quick%0D%6591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSHB	rs609896	0.558706	0.4782	0.4996	1	0	0	intronic	intronic	intronic	FSHB	FSHB	ENSG00000131808	Na	Na	Na	Na	Na	Na	Het;T>C	1607;56|70	Hom;T>C	3923;0|141
N	N	-	11	30255185	30255185	C	T	snp	synonymous SNV	C228T	Y76Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	FSHB	Fshb	ENSG00000131808	follicle stimulating hormone beta subunit	chr11:30252563-30256808	The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	FSH level in men; polycystic ovarian syndrome; polycystic ovary syndrome.; epithelial ovarian cancer ; Infertility, Male; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Autism; breast cancer|prostate cancer; prostate cancer	Females homozygous for a targeted null mutation are sterile with a preantral block in folliculogenesis. Mutant males have small testes and reduced Sertoli and germ cell numbers, but are fertile.	G alpha (s) signalling events	GO:0001541;ovarian follicle development;IEA|GO:0006701;progesterone biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IEP|GO:0007267;cell-cell signaling;IBA|GO:0007292;female gamete generation;TAS|GO:0007565;female pregnancy;TAS|GO:0008284;positive regulation of cell proliferation;NAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0016486;peptide hormone processing;TAS|GO:0030335;positive regulation of cell migration;NAS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;NAS|GO:0060011;Sertoli cell proliferation;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0016913;follicle-stimulating hormone activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FSHB	https://www.uniprot.org/uniprot/P01225	https://hpo.jax.org/app/browse/search?q=FSHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136530	http://www.informatics.jax.org/searchtool/Search.do?query=FSHB&submit=Quick%0D%6591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSHB	rs6169	0.614816	0.5285	0.5142	1	0	0	exonic	exonic	exonic	FSHB	FSHB	ENSG00000131808	synonymous SNV	synonymous SNV	unknown	FSHB:NM_001018080:exon3:c.C228T:p.Y76Y,FSHB:NM_000510:exon3:c.C228T:p.Y76Y,	FSHB:uc001msl.3:exon3:c.C228T:p.Y76Y,FSHB:uc001msn.3:exon2:c.C228T:p.Y76Y,FSHB:uc001msm.3:exon3:c.C228T:p.Y76Y,	UNKNOWN	Het;C>T	567;62|32	Hom;C>T	2331;2|92
N	N	-	11	30255823	30255823	A	G	snp	UTR3	*476A>G	 	 	 	FSHB	Fshb	ENSG00000131808	follicle stimulating hormone beta subunit	chr11:30252563-30256808	The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	FSH level in men; polycystic ovarian syndrome; polycystic ovary syndrome.; epithelial ovarian cancer ; Infertility, Male; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Autism; breast cancer|prostate cancer; prostate cancer	Females homozygous for a targeted null mutation are sterile with a preantral block in folliculogenesis. Mutant males have small testes and reduced Sertoli and germ cell numbers, but are fertile.	G alpha (s) signalling events	GO:0001541;ovarian follicle development;IEA|GO:0006701;progesterone biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IEP|GO:0007267;cell-cell signaling;IBA|GO:0007292;female gamete generation;TAS|GO:0007565;female pregnancy;TAS|GO:0008284;positive regulation of cell proliferation;NAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0016486;peptide hormone processing;TAS|GO:0030335;positive regulation of cell migration;NAS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;NAS|GO:0060011;Sertoli cell proliferation;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0016913;follicle-stimulating hormone activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FSHB	https://www.uniprot.org/uniprot/P01225	https://hpo.jax.org/app/browse/search?q=FSHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136530	http://www.informatics.jax.org/searchtool/Search.do?query=FSHB&submit=Quick%0D%6591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSHB	rs506197	0.558506	0	0	1	0	0	UTR3	UTR3	UTR3	FSHB(NM_000510:c.*476A>G,NM_001018080:c.*476A>G)	FSHB(uc001msl.3:c.*476A>G,uc001msm.3:c.*476A>G,uc001msn.3:c.*476A>G)	ENSG00000131808(ENST00000417547:c.*476A>G,ENST00000254122:c.*476A>G,ENST00000533718:c.*476A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	243;16|12	Hom;A>G	399;0|13
N	N	-	11	30255867	30255867	C	G	snp	UTR3	*520C>G	 	 	 	FSHB	Fshb	ENSG00000131808	follicle stimulating hormone beta subunit	chr11:30252563-30256808	The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	FSH level in men; polycystic ovarian syndrome; polycystic ovary syndrome.; epithelial ovarian cancer ; Infertility, Male; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Autism; breast cancer|prostate cancer; prostate cancer	Females homozygous for a targeted null mutation are sterile with a preantral block in folliculogenesis. Mutant males have small testes and reduced Sertoli and germ cell numbers, but are fertile.	G alpha (s) signalling events	GO:0001541;ovarian follicle development;IEA|GO:0006701;progesterone biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IEP|GO:0007267;cell-cell signaling;IBA|GO:0007292;female gamete generation;TAS|GO:0007565;female pregnancy;TAS|GO:0008284;positive regulation of cell proliferation;NAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0016486;peptide hormone processing;TAS|GO:0030335;positive regulation of cell migration;NAS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;NAS|GO:0060011;Sertoli cell proliferation;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0016913;follicle-stimulating hormone activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FSHB	https://www.uniprot.org/uniprot/P01225	https://hpo.jax.org/app/browse/search?q=FSHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136530	http://www.informatics.jax.org/searchtool/Search.do?query=FSHB&submit=Quick%0D%6591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSHB	rs506306	0.558706	0	0	1	0	0	UTR3	UTR3	UTR3	FSHB(NM_000510:c.*520C>G,NM_001018080:c.*520C>G)	FSHB(uc001msl.3:c.*520C>G,uc001msm.3:c.*520C>G,uc001msn.3:c.*520C>G)	ENSG00000131808(ENST00000417547:c.*520C>G,ENST00000254122:c.*520C>G,ENST00000533718:c.*520C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	414;23|22	Hom;C>G	978;2|36
N	N	-	11	30255982	30255982	A	G	snp	UTR3	*635A>G	 	 	 	FSHB	Fshb	ENSG00000131808	follicle stimulating hormone beta subunit	chr11:30252563-30256808	The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	FSH level in men; polycystic ovarian syndrome; polycystic ovary syndrome.; epithelial ovarian cancer ; Infertility, Male; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Autism; breast cancer|prostate cancer; prostate cancer	Females homozygous for a targeted null mutation are sterile with a preantral block in folliculogenesis. Mutant males have small testes and reduced Sertoli and germ cell numbers, but are fertile.	G alpha (s) signalling events	GO:0001541;ovarian follicle development;IEA|GO:0006701;progesterone biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IEP|GO:0007267;cell-cell signaling;IBA|GO:0007292;female gamete generation;TAS|GO:0007565;female pregnancy;TAS|GO:0008284;positive regulation of cell proliferation;NAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0016486;peptide hormone processing;TAS|GO:0030335;positive regulation of cell migration;NAS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;NAS|GO:0060011;Sertoli cell proliferation;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0016913;follicle-stimulating hormone activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FSHB	https://www.uniprot.org/uniprot/P01225	https://hpo.jax.org/app/browse/search?q=FSHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136530	http://www.informatics.jax.org/searchtool/Search.do?query=FSHB&submit=Quick%0D%6591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSHB	rs676349	0.557308	0	0	1	0	0	UTR3	UTR3	UTR3	FSHB(NM_000510:c.*635A>G,NM_001018080:c.*635A>G)	FSHB(uc001msl.3:c.*635A>G,uc001msm.3:c.*635A>G,uc001msn.3:c.*635A>G)	ENSG00000131808(ENST00000417547:c.*635A>G,ENST00000254122:c.*635A>G,ENST00000533718:c.*635A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	363;20|17	Hom;A>G	1220;2|47
N	N	-	11	30352473	30352473	C	CAG	indel	UTR5	-23C>CAG	 	 	 	ARL14EP	Arl14ep	ENSG00000152219	ADP ribosylation factor like GTPase 14 effector protein	chr11:30344598-30359774	The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]	Menopause	 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARL14EP	https://www.uniprot.org/uniprot/Q8N8R7		https://www.ncbi.nlm.nih.gov/omim/?term=612295	http://www.informatics.jax.org/searchtool/Search.do?query=ARL14EP&submit=Quick%0D%9520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL14EP	rs35824273	0	0	0.6882	1	0	0	UTR5	UTR5	UTR5	ARL14EP(NM_152316:c.-23C>CAG)	ARL14EP(uc001mso.1:c.-23C>CAG)	ENSG00000152219(ENST00000282032:c.-23C>CAG,ENST00000530909:c.-23C>CAG)	Na	Na	Na	Na	Na	Na	Het;+AG	446;7|12	Hom;+AG	368;0|9
N	N	-	11	30353024	30353024	A	G	snp	intronic	 	 	 	 	ARL14EP	Arl14ep	ENSG00000152219	ADP ribosylation factor like GTPase 14 effector protein	chr11:30344598-30359774	The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]	Menopause	 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARL14EP	https://www.uniprot.org/uniprot/Q8N8R7		https://www.ncbi.nlm.nih.gov/omim/?term=612295	http://www.informatics.jax.org/searchtool/Search.do?query=ARL14EP&submit=Quick%0D%9520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL14EP	rs3858431	0.312101	0	0	1	0	0	intronic	intronic	intronic	ARL14EP	ARL14EP	ENSG00000152219	Na	Na	Na	Na	Na	Na	Het;A>G	219;2|7	Hom;A>G	512;0|15
N	N	-	11	30354707	30354707	G	T	snp	intronic	 	 	 	 	ARL14EP	Arl14ep	ENSG00000152219	ADP ribosylation factor like GTPase 14 effector protein	chr11:30344598-30359774	The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]	Menopause	 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARL14EP	https://www.uniprot.org/uniprot/Q8N8R7		https://www.ncbi.nlm.nih.gov/omim/?term=612295	http://www.informatics.jax.org/searchtool/Search.do?query=ARL14EP&submit=Quick%0D%9520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL14EP	rs1879671	0.430112	0	0	1	0	0	intronic	intronic	intronic	ARL14EP	ARL14EP	ENSG00000152219	Na	Na	Na	Na	Na	Na	Het;G>T	67;2|3	Hom;G>T	236;0|7
N	N	-	11	30358032	30358034	CCT	C	indel	intronic	 	 	 	 	ARL14EP	Arl14ep	ENSG00000152219	ADP ribosylation factor like GTPase 14 effector protein	chr11:30344598-30359774	The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]	Menopause	 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARL14EP	https://www.uniprot.org/uniprot/Q8N8R7		https://www.ncbi.nlm.nih.gov/omim/?term=612295	http://www.informatics.jax.org/searchtool/Search.do?query=ARL14EP&submit=Quick%0D%9520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL14EP	rs149772521	0.310304	0	0	1	0	0	intronic	intronic	intronic	ARL14EP	ARL14EP	ENSG00000152219	Na	Na	Na	Na	Na	Na	Het;-CT	259;7|8	Hom;-CT	283;0|8
N	N	-	11	3128823	3128823	G	A	snp	intronic	 	 	 	 	OSBPL5	Osbpl5	ENSG00000021762	oxysterol binding protein like 5	chr11:3108346-3187969	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]	Alcohol dependence ; Alcoholism	 	Acyl chain remodelling of PS	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006893;Golgi to plasma membrane transport;NAS|GO:0008203;cholesterol metabolic process;NAS|GO:0015914;phospholipid transport;IDA|GO:0030301;cholesterol transport;NAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001786;phosphatidylserine binding;IDA|GO:0005548;phospholipid transporter activity;TAS|GO:0008142;oxysterol binding;NAS|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/OSBPL5	https://www.uniprot.org/uniprot/Q9H0X9		https://www.ncbi.nlm.nih.gov/omim/?term=606733	http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL5&submit=Quick%0D%667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL5	rs17263839	0.0644968	0	0	1	0	0	intronic	intronic	intronic	OSBPL5	OSBPL5	ENSG00000021762	Na	Na	Na	Na	Na	Na	Het;G>A	57;5|3	Hom;G>A	115;0|4
N	N	-	11	3128915	3128915	T	C	snp	intronic	 	 	 	 	OSBPL5	Osbpl5	ENSG00000021762	oxysterol binding protein like 5	chr11:3108346-3187969	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]	Alcohol dependence ; Alcoholism	 	Acyl chain remodelling of PS	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006893;Golgi to plasma membrane transport;NAS|GO:0008203;cholesterol metabolic process;NAS|GO:0015914;phospholipid transport;IDA|GO:0030301;cholesterol transport;NAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001786;phosphatidylserine binding;IDA|GO:0005548;phospholipid transporter activity;TAS|GO:0008142;oxysterol binding;NAS|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/OSBPL5	https://www.uniprot.org/uniprot/Q9H0X9		https://www.ncbi.nlm.nih.gov/omim/?term=606733	http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL5&submit=Quick%0D%667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL5	rs3741351	0.463858	0	0	1	0	0	intronic	intronic	intronic	OSBPL5	OSBPL5	ENSG00000021762	Na	Na	Na	Na	Na	Na	Het;T>C	203;12|8	Hom;T>C	393;1|11
N	N	-	11	3129027	3129027	G	A	snp	synonymous SNV	C573T	T191T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OSBPL5	Osbpl5	ENSG00000021762	oxysterol binding protein like 5	chr11:3108346-3187969	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]	Alcohol dependence ; Alcoholism	 	Acyl chain remodelling of PS	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006893;Golgi to plasma membrane transport;NAS|GO:0008203;cholesterol metabolic process;NAS|GO:0015914;phospholipid transport;IDA|GO:0030301;cholesterol transport;NAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001786;phosphatidylserine binding;IDA|GO:0005548;phospholipid transporter activity;TAS|GO:0008142;oxysterol binding;NAS|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/OSBPL5	https://www.uniprot.org/uniprot/Q9H0X9		https://www.ncbi.nlm.nih.gov/omim/?term=606733	http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL5&submit=Quick%0D%667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL5	rs3741350	0.454073	0.5265	0.4191	1	0	0	exonic	exonic	exonic	OSBPL5	OSBPL5	ENSG00000021762	synonymous SNV	synonymous SNV	unknown	OSBPL5:NM_145638:exon7:c.C636T:p.T212T,OSBPL5:NM_020896:exon8:c.C840T:p.T280T,OSBPL5:NM_001144063:exon7:c.C636T:p.T212T,	OSBPL5:uc010qxq.1:exon6:c.C573T:p.T191T,OSBPL5:uc001lxl.2:exon7:c.C636T:p.T212T,OSBPL5:uc009ydw.2:exon7:c.C636T:p.T212T,OSBPL5:uc001lxk.2:exon8:c.C840T:p.T280T,OSBPL5:uc009ydx.3:exon8:c.C912T:p.T304T,	UNKNOWN	Het;G>A	732;57|39	Hom;G>A	2245;1|88
N	N	-	11	3129200	3129206	GCCCCAC	G	indel	intronic	 	 	 	 	OSBPL5	Osbpl5	ENSG00000021762	oxysterol binding protein like 5	chr11:3108346-3187969	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]	Alcohol dependence ; Alcoholism	 	Acyl chain remodelling of PS	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006893;Golgi to plasma membrane transport;NAS|GO:0008203;cholesterol metabolic process;NAS|GO:0015914;phospholipid transport;IDA|GO:0030301;cholesterol transport;NAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001786;phosphatidylserine binding;IDA|GO:0005548;phospholipid transporter activity;TAS|GO:0008142;oxysterol binding;NAS|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/OSBPL5	https://www.uniprot.org/uniprot/Q9H0X9		https://www.ncbi.nlm.nih.gov/omim/?term=606733	http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL5&submit=Quick%0D%667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL5	rs113370820	0.351238	0.4308	0.3512	1	0	0	intronic	intronic	intronic	OSBPL5	OSBPL5	ENSG00000021762	Na	Na	Na	Na	Na	Na	Het;-CCCCAC	820;12|22	Hom;-CCCCAC	1561;0|37
N	N	-	11	31807524	31807524	C	T	snp	UTR3	*3958G>A	 	 	 	PAX6	Pax6	ENSG00000007372	paired box 6	chr11:31806340-31839509	This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]	optic nerve malformation; hypertension; Tobacco Use Disorder; Myopia; schizophrenia; Autism; Eye Abnormalities; diabetes, type 2; atherosclerosis; brain atrophy; epilepsy; Retinal Diseases; Body Mass Index; Cleft Lip|Cleft Palate; Myopia, Degenerative	Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0001568;blood vessel development;IMP|GO:0001654;eye development;TAS|GO:0001709;cell fate determination;IEA|GO:0001764;neuron migration;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0003002;regionalization;IEA|GO:0003309;type B pancreatic cell differentiation;IEA|GO:0003322;pancreatic A cell development;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IMP|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;TAS|GO:0007420;brain development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007601;visual perception;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009611;response to wounding;IEP|GO:0009786;regulation of asymmetric cell division;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0009950;dorsal/ventral axis specification;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016567;protein ubiquitination;IEA|GO:0021543;pallium development;IEA|GO:0021778;oligodendrocyte cell fate specification;IEA|GO:0021796;cerebral cortex regionalization;IEA|GO:0021798;forebrain dorsal/ventral pattern formation;IEA|GO:0021902;commitment of neuronal cell to specific neuron type in forebrain;IEA|GO:0021905;forebrain-midbrain boundary formation;IEA|GO:0021912;regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification;IEA|GO:0021913;regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification;IEA|GO:0021918;regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0021983;pituitary gland development;IEA|GO:0021986;habenula development;IEA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030858;positive regulation of epithelial cell differentiation;IEA|GO:0030900;forebrain development;IEA|GO:0032808;lacrimal gland development;IEA|GO:0033365;protein localization to organelle;IEA|GO:0042462;eye photoreceptor cell development;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043010;camera-type eye development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048663;neuron fate commitment;NAS|GO:0048708;astrocyte differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;ISS|GO:0060041;retina development in camera-type eye;IEA|GO:0061072;iris morphogenesis;IMP|GO:0061303;cornea development in camera-type eye;IMP|GO:2000178;negative regulation of neural precursor cell proliferation;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0004842;ubiquitin-protein transferase activity;ISS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;ISS|GO:0019901;protein kinase binding;ISS|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0035035;histone acetyltransferase binding;ISS|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0070410;co-SMAD binding;IEA|GO:0070412;R-SMAD binding;IPI|GO:0071837;HMG box domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAX6	https://www.uniprot.org/uniprot/P26367	https://hpo.jax.org/app/browse/search?q=PAX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607108	http://www.informatics.jax.org/searchtool/Search.do?query=PAX6&submit=Quick%0D%444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX6	rs3026401	0.643171	0	0	1	0	0	UTR3	UTR3	UTR3	PAX6(NM_000280:c.*3958G>A,NM_001258462:c.*3958G>A,NM_001258463:c.*3958G>A,NM_001604:c.*3958G>A,NM_001258464:c.*3958G>A,NM_001127612:c.*3958G>A,NM_001258465:c.*3958G>A)	PAX6(uc031pzk.1:c.*3958G>A,uc031pzl.1:c.*3958G>A,uc001mtd.4:c.*3958G>A,uc001mte.5:c.*3958G>A,uc001mtg.5:c.*3958G>A,uc001mtf.5:c.*3958G>A,uc001mth.5:c.*3958G>A,uc021qfl.1:c.*3958G>A,uc021qfm.1:c.*3958G>A,uc009yjr.3:c.*3958G>A)	ENSG00000007372(ENST00000419022:c.*3958G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1020;67|48	Hom;C>T	3646;0|137
N	N	-	11	31808235	31808235	T	TAAAA	indel	ncRNA_exonic	 	 	 	 	ENSG00000272286																		rs34919147	0.494609	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	PAX6(NM_000280:c.*3247A>TTTTA,NM_001258462:c.*3247A>TTTTA,NM_001258463:c.*3247A>TTTTA,NM_001604:c.*3247A>TTTTA,NM_001258464:c.*3247A>TTTTA,NM_001127612:c.*3247A>TTTTA,NM_001258465:c.*3247A>TTTTA)	PAX6(uc031pzk.1:c.*3247A>TTTTA,uc031pzl.1:c.*3247A>TTTTA,uc001mtd.4:c.*3247A>TTTTA,uc001mte.5:c.*3247A>TTTTA,uc001mtg.5:c.*3247A>TTTTA,uc001mtf.5:c.*3247A>TTTTA,uc001mth.5:c.*3247A>TTTTA,uc021qfl.1:c.*3247A>TTTTA,uc021qfm.1:c.*3247A>TTTTA,uc009yjr.3:c.*3247A>TTTTA)	ENSG00000272286	Na	Na	Na	Na	Na	Na	Het;+AAAA	1490;56|38	Hom;+AAAA	3769;0|83
N	N	-	11	31810298	31810298	T	A	snp	UTR3	*1184A>T	 	 	 	PAX6	Pax6	ENSG00000007372	paired box 6	chr11:31806340-31839509	This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]	optic nerve malformation; hypertension; Tobacco Use Disorder; Myopia; schizophrenia; Autism; Eye Abnormalities; diabetes, type 2; atherosclerosis; brain atrophy; epilepsy; Retinal Diseases; Body Mass Index; Cleft Lip|Cleft Palate; Myopia, Degenerative	Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0001568;blood vessel development;IMP|GO:0001654;eye development;TAS|GO:0001709;cell fate determination;IEA|GO:0001764;neuron migration;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0003002;regionalization;IEA|GO:0003309;type B pancreatic cell differentiation;IEA|GO:0003322;pancreatic A cell development;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IMP|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;TAS|GO:0007420;brain development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007601;visual perception;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009611;response to wounding;IEP|GO:0009786;regulation of asymmetric cell division;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0009950;dorsal/ventral axis specification;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016567;protein ubiquitination;IEA|GO:0021543;pallium development;IEA|GO:0021778;oligodendrocyte cell fate specification;IEA|GO:0021796;cerebral cortex regionalization;IEA|GO:0021798;forebrain dorsal/ventral pattern formation;IEA|GO:0021902;commitment of neuronal cell to specific neuron type in forebrain;IEA|GO:0021905;forebrain-midbrain boundary formation;IEA|GO:0021912;regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification;IEA|GO:0021913;regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification;IEA|GO:0021918;regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0021983;pituitary gland development;IEA|GO:0021986;habenula development;IEA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030858;positive regulation of epithelial cell differentiation;IEA|GO:0030900;forebrain development;IEA|GO:0032808;lacrimal gland development;IEA|GO:0033365;protein localization to organelle;IEA|GO:0042462;eye photoreceptor cell development;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043010;camera-type eye development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048663;neuron fate commitment;NAS|GO:0048708;astrocyte differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;ISS|GO:0060041;retina development in camera-type eye;IEA|GO:0061072;iris morphogenesis;IMP|GO:0061303;cornea development in camera-type eye;IMP|GO:2000178;negative regulation of neural precursor cell proliferation;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0004842;ubiquitin-protein transferase activity;ISS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;ISS|GO:0019901;protein kinase binding;ISS|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0035035;histone acetyltransferase binding;ISS|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0070410;co-SMAD binding;IEA|GO:0070412;R-SMAD binding;IPI|GO:0071837;HMG box domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAX6	https://www.uniprot.org/uniprot/P26367	https://hpo.jax.org/app/browse/search?q=PAX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607108	http://www.informatics.jax.org/searchtool/Search.do?query=PAX6&submit=Quick%0D%444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX6	rs1506	0.660942	0	0	1	0	0	UTR3	UTR3	UTR3	PAX6(NM_000280:c.*1184A>T,NM_001258462:c.*1184A>T,NM_001258463:c.*1184A>T,NM_001604:c.*1184A>T,NM_001258464:c.*1184A>T,NM_001127612:c.*1184A>T,NM_001258465:c.*1184A>T)	PAX6(uc031pzk.1:c.*1184A>T,uc031pzl.1:c.*1184A>T,uc001mtd.4:c.*1184A>T,uc001mte.5:c.*1184A>T,uc001mtg.5:c.*1184A>T,uc001mtf.5:c.*1184A>T,uc001mth.5:c.*1184A>T,uc021qfl.1:c.*1184A>T,uc021qfm.1:c.*1184A>T,uc009yjr.3:c.*1184A>T)	ENSG00000007372(ENST00000419022:c.*1184A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	1412;81|66	Hom;T>A	4150;0|155
N	N	-	11	3249984	3249984	C	T	snp	nonsynonymous SNV	G46A	G16S	aliphatic,neutral	polar,hydrophilic,neutral	MRGPRE	Mrgpre	ENSG00000184350	MAS related GPR family member E	chr11:3248928-3253616			Mice homozygous for a knock-out allele exhibit alterations in the development but not maintenance of allodynia.		GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRGPRE			https://www.ncbi.nlm.nih.gov/omim/?term=607232	http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRE&submit=Quick%0D%15188ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRE	rs12295710	0.33147	0.3616	0.4253	0.09	1	11	exonic	exonic	exonic	MRGPRE	MRGPRE	ENSG00000184350	nonsynonymous SNV	nonsynonymous SNV	unknown	MRGPRE:NM_001039165:exon2:c.G46A:p.G16S,	MRGPRE:uc001lxq.5:exon2:c.G46A:p.G16S,MRGPRE:uc021qcj.1:exon1:c.G43A:p.G15S,	UNKNOWN	Het;C>T	929;51|46	Hom;C>T	2070;0|76
N	N	-	11	3436045	3436045	C	T	snp	ncRNA_intronic	 	 	 	 	FAM86GP																		rs7118884	0.733027	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=5667),LOC101927708(dist=93165)	LOC650368(dist=5667),AB231779(dist=202417)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;C>T	2369;167|119	Hom;C>T	6989;9|258
N	N	-	11	3436095	3436095	G	A	snp	ncRNA_exonic	 	 	 	 	FAM86GP																		rs2412194	0.708466	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TSSC2(dist=5717),LOC101927708(dist=93115)	LOC650368(dist=5717),AB231779(dist=202367)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>A	2828;193|138	Hom;G>A	9432;2|351
N	N	-	11	3436211	3436211	G	A	snp	ncRNA_exonic	 	 	 	 	FAM86GP																		rs7118203	0.339856	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TSSC2(dist=5833),LOC101927708(dist=92999)	LOC650368(dist=5833),AB231779(dist=202251)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>A	4012;175|183	Hom;G>A	7537;2|259
N	N	-	11	3436392	3436392	G	A	snp	ncRNA_intronic	 	 	 	 	FAM86GP																		rs10833983	0.35603	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=6014),LOC101927708(dist=92818)	LOC650368(dist=6014),AB231779(dist=202070)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>A	4505;186|209	Hom;G>A	12522;0|445
N	N	-	11	3436704	3436704	G	A	snp	ncRNA_intronic	 	 	 	 	FAM86GP																		rs1063709	0.733626	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=6326),LOC101927708(dist=92506)	LOC650368(dist=6326),AB231779(dist=201758)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>A	1943;84|85	Hom;G>A	3822;0|138
N	N	-	11	3436735	3436735	C	T	snp	ncRNA_intronic	 	 	 	 	FAM86GP																		rs11027069	0.345847	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=6357),LOC101927708(dist=92475)	LOC650368(dist=6357),AB231779(dist=201727)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;C>T	1587;87|71	Hom;C>T	3203;0|113
N	N	-	11	3439479	3439479	G	A	snp	ncRNA_exonic	 	 	 	 	FAM86GP																		rs10834001	0.376198	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TSSC2(dist=9101),LOC101927708(dist=89731)	LOC650368(dist=9101),AB231779(dist=198983)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>A	2516;148|125	Hom;G>A	11481;0|257
N	N	-	11	3443477	3443477	C	T	snp	ncRNA_intronic	 	 	 	 	FAM86GP																		rs10834030	0.414537	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=13099),LOC101927708(dist=85733)	LOC650368(dist=13099),AB231779(dist=194985)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;C>T	224;12|8	Hom;C>T	810;2|31
N	N	-	11	3443773	3443773	A	G	snp	upstream	 	 	 	 	FAM86GP																		rs7124571	0.6252	0	0	1	0	0	intergenic	intergenic	upstream	TSSC2(dist=13395),LOC101927708(dist=85437)	LOC650368(dist=13395),AB231779(dist=194689)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;A>G	1064;41|45	Hom;A>G	2630;0|94
N	N	-	11	3444559	3444559	G	A	snp	upstream	 	 	 	 	FAM86GP																		rs3944146	0.414537	0	0	1	0	0	intergenic	intergenic	upstream	TSSC2(dist=14181),LOC101927708(dist=84651)	LOC650368(dist=14181),AB231779(dist=193903)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>A	440;15|20	Hom;G>A	1425;0|52
N	N	-	11	3444608	3444608	G	A	snp	upstream	 	 	 	 	FAM86GP																		rs11027128	0.414337	0	0	1	0	0	intergenic	intergenic	upstream	TSSC2(dist=14230),LOC101927708(dist=84602)	LOC650368(dist=14230),AB231779(dist=193854)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>A	408;17|17	Hom;G>A	1277;0|43
N	N	-	11	3444641	3444641	G	C	snp	upstream	 	 	 	 	FAM86GP																		rs11027129	0.409545	0	0	1	0	0	intergenic	intergenic	upstream	TSSC2(dist=14263),LOC101927708(dist=84569)	LOC650368(dist=14263),AB231779(dist=193821)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;G>C	399;18|16	Hom;G>C	1444;0|48
N	N	-	11	3444680	3444680	A	G	snp	upstream	 	 	 	 	FAM86GP																		rs11027130	0.419129	0	0	1	0	0	intergenic	intergenic	upstream	TSSC2(dist=14302),LOC101927708(dist=84530)	LOC650368(dist=14302),AB231779(dist=193782)	ENSG00000166492	Na	Na	Na	Na	Na	Na	Het;A>G	525;33|27	Hom;A>G	1365;0|49
N	N	-	11	3444750	3444750	C	G	snp	intergenic	 	 	 	 	FAM86GP																		rs4539306	0.414137	0	0	1	0	0	intergenic	intergenic	intergenic	TSSC2(dist=14372),LOC101927708(dist=84460)	LOC650368(dist=14372),AB231779(dist=193712)	ENSG00000166492(dist=1024),ENSG00000254757(dist=45799)	Na	Na	Na	Na	Na	Na	Het;C>G	743;41|36	Hom;C>G	1681;0|58
N	N	-	11	3444903	3444903	G	A	snp	intergenic	 	 	 	 	FAM86GP																		rs4506626	0.408546	0	0	1	0	0	intergenic	intergenic	intergenic	TSSC2(dist=14525),LOC101927708(dist=84307)	LOC650368(dist=14525),AB231779(dist=193559)	ENSG00000166492(dist=1177),ENSG00000254757(dist=45646)	Na	Na	Na	Na	Na	Na	Het;G>A	478;24|21	Hom;G>A	1141;0|37
N	N	-	11	3445871	3445871	T	A	snp	intergenic	 	 	 	 	FAM86GP																		rs1812032	0.407947	0	0	1	0	0	intergenic	intergenic	intergenic	TSSC2(dist=15493),LOC101927708(dist=83339)	LOC650368(dist=15493),AB231779(dist=192591)	ENSG00000166492(dist=2145),ENSG00000254757(dist=44678)	Na	Na	Na	Na	Na	Na	Het;T>A	468;44|25	Hom;T>A	1466;0|55
N	N	-	11	3445928	3445928	T	C	snp	intergenic	 	 	 	 	FAM86GP																		rs1812031	0.413538	0	0	1	0	0	intergenic	intergenic	intergenic	TSSC2(dist=15550),LOC101927708(dist=83282)	LOC650368(dist=15550),AB231779(dist=192534)	ENSG00000166492(dist=2202),ENSG00000254757(dist=44621)	Na	Na	Na	Na	Na	Na	Het;T>C	161;24|10	Hom;T>C	1020;0|37
N	N	-	11	3478951	3478951	C	T	snp	intergenic	 	 	 	 	FAM86GP																		rs77133230	0.250998	0	0	1	0	0	intergenic	intergenic	intergenic	TSSC2(dist=48573),LOC101927708(dist=50259)	LOC650368(dist=48573),AB231779(dist=159511)	ENSG00000166492(dist=35225),ENSG00000254757(dist=11598)	Na	Na	Na	Na	Na	Na	Het;C>T	872;33|42	Hom;C>T	2094;0|77
N	N	-	11	3507067	3507067	G	A	snp	ncRNA_intronic	 	 	 	 	AC127526.3																		rs10767139	0.795727	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=76689),LOC101927708(dist=22143)	LOC650368(dist=76689),AB231779(dist=131395)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;G>A	235;7|12	Hom;G>A	240;0|10
N	N	-	11	3507099	3507099	G	A	snp	ncRNA_intronic	 	 	 	 	AC127526.3																		rs10834235	0.795727	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=76721),LOC101927708(dist=22111)	LOC650368(dist=76721),AB231779(dist=131363)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;G>A	228;9|12	Hom;G>A	550;0|22
N	N	-	11	3507174	3507174	C	A	snp	ncRNA_intronic	 	 	 	 	AC127526.3																		rs10834236	0.796126	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=76796),LOC101927708(dist=22036)	LOC650368(dist=76796),AB231779(dist=131288)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;C>A	627;16|17	Hom;C>A	1121;0|26
N	N	-	11	3507178	3507178	A	C	snp	ncRNA_intronic	 	 	 	 	AC127526.3																		rs10834237	0.796126	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TSSC2(dist=76800),LOC101927708(dist=22032)	LOC650368(dist=76800),AB231779(dist=131284)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;A>C	621;18|17	Hom;A>C	1121;0|25
N	N	-	11	35178868	35178872	GTCTA	G	indel	intronic	 	 	 	 	CD44	Cd44	ENSG00000026508	CD44 molecule (Indian blood group)	chr11:35160417-35253949	The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]	Hemoglobin A, Glycosylated; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Hepatitis B; Congenital Heart Defects|Heart Defects, Congenital; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; Lupus; arthritis; breast cancer; Stroke; Drug-Induced Liver Injury|	Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation.	Interferon gamma signaling	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030214;hyaluronan catabolic process;TAS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033674;positive regulation of kinase activity;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051216;cartilage development;IEP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070487;monocyte aggregation;IMP|GO:1900625;positive regulation of monocyte aggregation;IMP|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA	GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;NAS|GO:0005540;hyaluronic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CD44	https://www.uniprot.org/uniprot/P16070		https://www.ncbi.nlm.nih.gov/omim/?term=107269	http://www.informatics.jax.org/searchtool/Search.do?query=CD44&submit=Quick%0D%710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD44	Na	0	0	0	1	0	0	intronic	intronic	intronic	CD44	CD44	ENSG00000026508	Na	Na	Na	Na	Na	Na	Het;-TCTA	253;2|8	Hom;-TCTA	103;0|4
N	N	-	11	35223158	35223158	T	C	snp	intronic	 	 	 	 	CD44	Cd44	ENSG00000026508	CD44 molecule (Indian blood group)	chr11:35160417-35253949	The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]	Hemoglobin A, Glycosylated; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Hepatitis B; Congenital Heart Defects|Heart Defects, Congenital; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; Lupus; arthritis; breast cancer; Stroke; Drug-Induced Liver Injury|	Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation.	Interferon gamma signaling	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030214;hyaluronan catabolic process;TAS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033674;positive regulation of kinase activity;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051216;cartilage development;IEP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070487;monocyte aggregation;IMP|GO:1900625;positive regulation of monocyte aggregation;IMP|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA	GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;NAS|GO:0005540;hyaluronic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CD44	https://www.uniprot.org/uniprot/P16070		https://www.ncbi.nlm.nih.gov/omim/?term=107269	http://www.informatics.jax.org/searchtool/Search.do?query=CD44&submit=Quick%0D%710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD44	rs11033025	0.829872	0	0	1	0	0	intronic	intronic	intronic	CD44	CD44	ENSG00000026508	Na	Na	Na	Na	Na	Na	Het;T>C	673;37|27	Hom;T>C	1844;0|58
N	N	-	11	35226155	35226155	A	G	snp	nonsynonymous SNV	A1121G	K374R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CD44	Cd44	ENSG00000026508	CD44 molecule (Indian blood group)	chr11:35160417-35253949	The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]	Hemoglobin A, Glycosylated; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Hepatitis B; Congenital Heart Defects|Heart Defects, Congenital; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; Lupus; arthritis; breast cancer; Stroke; Drug-Induced Liver Injury|	Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation.	Interferon gamma signaling	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030214;hyaluronan catabolic process;TAS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033674;positive regulation of kinase activity;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051216;cartilage development;IEP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070487;monocyte aggregation;IMP|GO:1900625;positive regulation of monocyte aggregation;IMP|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA	GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;NAS|GO:0005540;hyaluronic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CD44	https://www.uniprot.org/uniprot/P16070		https://www.ncbi.nlm.nih.gov/omim/?term=107269	http://www.informatics.jax.org/searchtool/Search.do?query=CD44&submit=Quick%0D%710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD44	rs9666607	0.830272	0.7524	0.7478	0.08	1	13	exonic	exonic	exonic	CD44	CD44	ENSG00000026508	nonsynonymous SNV	nonsynonymous SNV	unknown	CD44:NM_001001389:exon9:c.A1121G:p.K374R,CD44:NM_000610:exon10:c.A1250G:p.K417R,	CD44:uc001mvu.3:exon10:c.A1250G:p.K417R,CD44:uc001mvv.3:exon9:c.A1121G:p.K374R,	UNKNOWN	Het;A>G	1132;70|58	Hom;A>G	2924;0|105
N	N	-	11	35244058	35244058	A	G	snp	UTR3	*133A>G	 	 	 	CD44	Cd44	ENSG00000026508	CD44 molecule (Indian blood group)	chr11:35160417-35253949	The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]	Hemoglobin A, Glycosylated; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Hepatitis B; Congenital Heart Defects|Heart Defects, Congenital; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; Lupus; arthritis; breast cancer; Stroke; Drug-Induced Liver Injury|	Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation.	Interferon gamma signaling	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030214;hyaluronan catabolic process;TAS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033674;positive regulation of kinase activity;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051216;cartilage development;IEP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070487;monocyte aggregation;IMP|GO:1900625;positive regulation of monocyte aggregation;IMP|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA	GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;NAS|GO:0005540;hyaluronic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CD44	https://www.uniprot.org/uniprot/P16070		https://www.ncbi.nlm.nih.gov/omim/?term=107269	http://www.informatics.jax.org/searchtool/Search.do?query=CD44&submit=Quick%0D%710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD44	rs7116432	0.466254	0	0	1	0	0	UTR3	UTR3	UTR3	CD44(NM_001202557:c.*133A>G)	CD44(uc021qfw.1:c.*133A>G)	ENSG00000026508(ENST00000442151:c.*133A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	800;26|32	Hom;A>G	1736;0|41
N	N	-	11	3529238	3529238	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927708																		rs10767167	0.73143	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927708	LOC650368(dist=98860),AB231779(dist=109224)	ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;A>G	148;43|12	Hom;A>G	1017;0|39
N	N	-	11	3529382	3529382	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101927708																		rs10834289	0.665535	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927708	LOC650368(dist=99004),AB231779(dist=109080)	ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;G>T	924;46|42	Hom;G>T	2249;0|86
N	N	-	11	3529641	3529646	AAAAAT	A	indel	ncRNA_intronic	 	 	 	 	LOC101927708																		Na	0	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927708	LOC650368(dist=99263),AB231779(dist=108816)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;-AAAAT	194;4|7	Hom;-AAAAT	232;0|7
N	N	-	11	3529648	3529648	T	TCG	indel	ncRNA_intronic	 	 	 	 	LOC101927708																		Na	0	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927708	LOC650368(dist=99270),AB231779(dist=108814)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;+CG	194;3|7	Hom;+CG	232;0|7
N	N	-	11	35314173	35314173	C	T	snp	intronic	 	 	 	 	SLC1A2	Slc1a2	ENSG00000110436	solute carrier family 1 member 2	chr11:35272753-35441610	This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010]	several psychiatric disorders; Electrocardiography; autism; Multiple Sclerosis, Relapsing-Remitting; schizophrenia; Psychiatric Disorders; alcohol dependence; Echocardiography; Tobacco Use Disorder; smoking cessation; Body Height; alcohol abuse; Weight Gain; smoking	Mice homozygous for disruptions in this gene display spontaneous seizures often leading to death as well as a succeptibility to neuronal degeneration.	Transport of inorganic cations/anions and amino acids/oligopeptides	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007399;nervous system development;IEA|GO:0007632;visual behavior;IEA|GO:0009416;response to light stimulus;IEA|GO:0009611;response to wounding;IEA|GO:0010259;multicellular organism aging;IEA|GO:0014047;glutamate secretion;TAS|GO:0015813;L-glutamate transport;IEA|GO:0021537;telencephalon development;IEA|GO:0030534;adult behavior;IEA|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046326;positive regulation of glucose import;IEA|GO:0051938;L-glutamate import;IDA|GO:0055085;transmembrane transport;IEA|GO:0070779;D-aspartate import;IDA|GO:0089711;L-glutamate transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030673;axolemma;IEA	GO:0005313;L-glutamate transmembrane transporter activity;IDA|GO:0005314;high-affinity glutamate transmembrane transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0015501;glutamate:sodium symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC1A2	https://www.uniprot.org/uniprot/P43004	https://hpo.jax.org/app/browse/search?q=SLC1A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600300	http://www.informatics.jax.org/searchtool/Search.do?query=SLC1A2&submit=Quick%0D%3961ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC1A2	rs2281634	0.153355	0	0	1	0	0	intronic	intronic	intronic	SLC1A2	SLC1A2	ENSG00000110436	Na	Na	Na	Na	Na	Na	Het;C>T	156;5|7	Hom;C>T	110;0|4
N	N	-	11	3536343	3536343	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101927708																		rs4980402	0.694489	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927708	LOC650368(dist=105965),AB231779(dist=102119)	ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;G>A	497;40|27	Hom;G>A	1872;0|70
N	N	-	11	3542048	3542048	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101927708																		rs7118235	0.650559	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927708	LOC650368(dist=111670),AB231779(dist=96414)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;T>C	1045;72|53	Hom;T>C	2537;0|94
N	N	-	11	3542154	3542154	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101927708																		rs7940136	0.709864	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927708	LOC650368(dist=111776),AB231779(dist=96308)	ENSG00000254757,ENSG00000255367	Na	Na	Na	Na	Na	Na	Het;T>C	740;32|35	Hom;T>C	1373;0|47
N	N	-	11	35456453	35456453	G	C	snp	intronic	 	 	 	 	PAMR1	Pamr1	ENSG00000149090	peptidase domain containing associated with muscle regeneration 1	chr11:35453370-35551848		Maximal Midexpiratory Flow Rate; Cholesterol, LDL; smoking cessation; Cholesterol; Tobacco Use Disorder; Waist-Hip Ratio	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAMR1	https://www.uniprot.org/uniprot/Q6UXH9			http://www.informatics.jax.org/searchtool/Search.do?query=PAMR1&submit=Quick%0D%9189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAMR1	rs675227	0.433506	0	0	1	0	0	intronic	intronic	intronic	PAMR1	PAMR1	ENSG00000149090	Na	Na	Na	Na	Na	Na	Het;G>C	44;2|2	Hom;G>C	98;0|3
N	N	-	11	36057626	36057626	G	A	snp	intronic	 	 	 	 	LDLRAD3	Ldlrad3	ENSG00000179241	low density lipoprotein receptor class A domain containing 3	chr11:35965531-36253686		Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77); autism; Hypertrophy, Left Ventricular; Body Height; Breath Tests	 		GO:0006898;receptor-mediated endocytosis;IEA|GO:0070613;regulation of protein processing;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001540;beta-amyloid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDLRAD3				http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAD3&submit=Quick%0D%14313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAD3	rs262451	0.399561	0.4623	0.5203	1	0	0	intronic	intronic	intronic	LDLRAD3	LDLRAD3	ENSG00000179241	Na	Na	Na	Na	Na	Na	Het;G>A	1318;28|60	Hom;G>A	1764;0|65
N	N	-	11	36422792	36422792	G	A	snp	nonsynonymous SNV	G121A	A41T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PRR5L	Prr5l	ENSG00000135362	proline rich 5 like	chr11:36317838-36486754		Acquired Immunodeficiency Syndrome|Disease Progression; Creatinine; Alcoholism	 		GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010762;regulation of fibroblast migration;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0034599;cellular response to oxidative stress;IMP|GO:0038203;TORC2 signaling;IDA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0090316;positive regulation of intracellular protein transport;IMP	GO:0005739;mitochondrion;IEA|GO:0031932;TORC2 complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRR5L	https://www.uniprot.org/uniprot/Q6MZQ0		https://www.ncbi.nlm.nih.gov/omim/?term=611728	http://www.informatics.jax.org/searchtool/Search.do?query=PRR5L&submit=Quick%0D%7131ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR5L	rs330261	0.833666	0.8198	0.8907	0.15	2	13	exonic	exonic	exonic	PRR5L	PRR5L	ENSG00000135362	nonsynonymous SNV	nonsynonymous SNV	unknown	PRR5L:NM_001160169:exon1:c.G121A:p.A41T,PRR5L:NM_001160167:exon2:c.G121A:p.A41T,PRR5L:NM_024841:exon3:c.G121A:p.A41T,	PRR5L:uc001mwp.3:exon3:c.G121A:p.A41T,PRR5L:uc001mwo.4:exon2:c.G121A:p.A41T,PRR5L:uc010rfc.2:exon1:c.G121A:p.A41T,	UNKNOWN	Het;G>A	763;31|40	Hom;G>A	1135;0|40
N	N	-	11	3659637	3659641	GAAGT	G	indel	downstream	 	 	 	 	ART5	Art5	ENSG00000167311	ADP-ribosyltransferase 5	chr11:3659733-3663546	The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]		 		GO:0006471;protein ADP-ribosylation;IEA	GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA	GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0003953;NAD+ nucleosidase activity;IEA|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ART5			https://www.ncbi.nlm.nih.gov/omim/?term=610625	http://www.informatics.jax.org/searchtool/Search.do?query=ART5&submit=Quick%0D%11993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ART5	rs58247487	0.699681	0	0	1	0	0	downstream	downstream	downstream	ART5,TRPC2	ART5,TRPC2	ENSG00000167311,ENSG00000182048	Na	Na	Na	Na	Na	Na	Het;-AAGT	170;1|5	Hom;-AAGT	350;0|9
N	N	-	11	3663170	3663170	G	C	snp	UTR5	-78C>G	 	 	 	ART5	Art5	ENSG00000167311	ADP-ribosyltransferase 5	chr11:3659733-3663546	The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]		 		GO:0006471;protein ADP-ribosylation;IEA	GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA	GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0003953;NAD+ nucleosidase activity;IEA|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ART5			https://www.ncbi.nlm.nih.gov/omim/?term=610625	http://www.informatics.jax.org/searchtool/Search.do?query=ART5&submit=Quick%0D%11993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ART5	rs7111519	0.902756	0	0	1	0	0	UTR5	UTR5	UTR5	ART5(NM_053017:c.-78C>G,NM_001297668:c.-78C>G)	ART5(uc001lyb.1:c.-78C>G,uc001lyd.3:c.-78C>G,uc009yea.3:c.-78C>G)	ENSG00000167311(ENST00000397068:c.-78C>G,ENST00000397067:c.-78C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	306;9|13	Hom;G>C	514;0|19
N	N	-	11	3714489	3714489	C	T	snp	synonymous SNV	G4284A	A1428A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NUP98	Nup98	ENSG00000110713	nucleoporin 98	chr11:3692313-3819022	Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]	Celiac Disease|	Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions.	Mitotic Prometaphase	GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006260;DNA replication;IMP|GO:0006405;RNA export from nucleus;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006810;transport;IEA|GO:0006913;nucleocytoplasmic transport;TAS|GO:0006999;nuclear pore organization;NAS|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0034398;telomere tethering at nuclear periphery;IBA|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044614;nuclear pore cytoplasmic filaments;IBA|GO:0044615;nuclear pore nuclear basket;IDA	GO:0003723;RNA binding;IBA|GO:0005215;transporter activity;TAS|GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IEA|GO:0017056;structural constituent of nuclear pore;IMP|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUP98	https://www.uniprot.org/uniprot/P52948		https://www.ncbi.nlm.nih.gov/omim/?term=601021	http://www.informatics.jax.org/searchtool/Search.do?query=NUP98&submit=Quick%0D%3984ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP98	rs1875	0.275759	0.2238	0.2108	1	0	0	exonic	exonic	exonic	NUP98	NUP98	ENSG00000110713	synonymous SNV	synonymous SNV	unknown	NUP98:NM_016320:exon27:c.G4284A:p.A1428A,NUP98:NM_139132:exon27:c.G4284A:p.A1428A,	NUP98:uc001lyh.3:exon27:c.G4284A:p.A1428A,NUP98:uc001lyg.3:exon7:c.G1179A:p.A393A,NUP98:uc001lyi.3:exon27:c.G4284A:p.A1428A,	UNKNOWN	Het;C>T	1031;54|53	Hom;C>T	2938;1|112
N	N	-	11	3740588	3740588	G	T	snp	intronic	 	 	 	 	NUP98	Nup98	ENSG00000110713	nucleoporin 98	chr11:3692313-3819022	Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]	Celiac Disease|	Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions.	Mitotic Prometaphase	GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006260;DNA replication;IMP|GO:0006405;RNA export from nucleus;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006810;transport;IEA|GO:0006913;nucleocytoplasmic transport;TAS|GO:0006999;nuclear pore organization;NAS|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0034398;telomere tethering at nuclear periphery;IBA|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044614;nuclear pore cytoplasmic filaments;IBA|GO:0044615;nuclear pore nuclear basket;IDA	GO:0003723;RNA binding;IBA|GO:0005215;transporter activity;TAS|GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IEA|GO:0017056;structural constituent of nuclear pore;IMP|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUP98	https://www.uniprot.org/uniprot/P52948		https://www.ncbi.nlm.nih.gov/omim/?term=601021	http://www.informatics.jax.org/searchtool/Search.do?query=NUP98&submit=Quick%0D%3984ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP98	rs612785	0.308107	0	0	1	0	0	intronic	intronic	intronic	NUP98	NUP98	ENSG00000110713	Na	Na	Na	Na	Na	Na	Het;G>T	273;38|16	Hom;G>T	1591;0|56
N	N	-	11	3740939	3740941	GGA	G	indel	intronic	 	 	 	 	NUP98	Nup98	ENSG00000110713	nucleoporin 98	chr11:3692313-3819022	Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]	Celiac Disease|	Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions.	Mitotic Prometaphase	GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006260;DNA replication;IMP|GO:0006405;RNA export from nucleus;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006810;transport;IEA|GO:0006913;nucleocytoplasmic transport;TAS|GO:0006999;nuclear pore organization;NAS|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0034398;telomere tethering at nuclear periphery;IBA|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044614;nuclear pore cytoplasmic filaments;IBA|GO:0044615;nuclear pore nuclear basket;IDA	GO:0003723;RNA binding;IBA|GO:0005215;transporter activity;TAS|GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IEA|GO:0017056;structural constituent of nuclear pore;IMP|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUP98	https://www.uniprot.org/uniprot/P52948		https://www.ncbi.nlm.nih.gov/omim/?term=601021	http://www.informatics.jax.org/searchtool/Search.do?query=NUP98&submit=Quick%0D%3984ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP98	rs33924779	0.555511	0	0	1	0	0	intronic	intronic	intronic	NUP98	NUP98	ENSG00000110713	Na	Na	Na	Na	Na	Na	Het;-GA	96;11|4	Hom;-GA	487;0|12
N	N	-	11	3746465	3746465	C	G	snp	intronic	 	 	 	 	NUP98	Nup98	ENSG00000110713	nucleoporin 98	chr11:3692313-3819022	Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]	Celiac Disease|	Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions.	Mitotic Prometaphase	GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006260;DNA replication;IMP|GO:0006405;RNA export from nucleus;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006810;transport;IEA|GO:0006913;nucleocytoplasmic transport;TAS|GO:0006999;nuclear pore organization;NAS|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0034398;telomere tethering at nuclear periphery;IBA|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044614;nuclear pore cytoplasmic filaments;IBA|GO:0044615;nuclear pore nuclear basket;IDA	GO:0003723;RNA binding;IBA|GO:0005215;transporter activity;TAS|GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IEA|GO:0017056;structural constituent of nuclear pore;IMP|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUP98	https://www.uniprot.org/uniprot/P52948		https://www.ncbi.nlm.nih.gov/omim/?term=601021	http://www.informatics.jax.org/searchtool/Search.do?query=NUP98&submit=Quick%0D%3984ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP98	rs276901	0.339856	0.3191	0.2753	1	0	0	intronic	intronic	intronic	NUP98	NUP98	ENSG00000110713	Na	Na	Na	Na	Na	Na	Het;C>G	860;31|38	Hom;C>G	1281;0|47
N	N	-	11	3789982	3789993	GAAAAAGAAAAA	G	indel	intronic	 	 	 	 	NUP98	Nup98	ENSG00000110713	nucleoporin 98	chr11:3692313-3819022	Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]	Celiac Disease|	Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions.	Mitotic Prometaphase	GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006260;DNA replication;IMP|GO:0006405;RNA export from nucleus;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006810;transport;IEA|GO:0006913;nucleocytoplasmic transport;TAS|GO:0006999;nuclear pore organization;NAS|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0034398;telomere tethering at nuclear periphery;IBA|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044614;nuclear pore cytoplasmic filaments;IBA|GO:0044615;nuclear pore nuclear basket;IDA	GO:0003723;RNA binding;IBA|GO:0005215;transporter activity;TAS|GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IEA|GO:0017056;structural constituent of nuclear pore;IMP|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUP98	https://www.uniprot.org/uniprot/P52948		https://www.ncbi.nlm.nih.gov/omim/?term=601021	http://www.informatics.jax.org/searchtool/Search.do?query=NUP98&submit=Quick%0D%3984ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP98	rs146552084	0.320088	0.2589	0.2558	1	0	0	intronic	intronic	intronic	NUP98	NUP98	ENSG00000110713	Na	Na	Na	Na	Na	Na	Het;-AAAAAGAAAAA	271;10|9	Hom;-AAAAAGAAAAA	1385;0|34
N	N	-	11	38641281	38641281	A	G	snp	ncRNA_exonic	 	 	 	 	LOC103312105																		rs10501204	0.404353	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC103312105	NONE(dist=NONE),LRRC4C(dist=1494470)	ENSG00000255175	Na	Na	Na	Na	Na	Na	Het;A>G	454;44|25	Hom;A>G	1404;0|48
N	N	-	11	38976749	38976749	A	G	snp	intergenic	 	 	 	 	LINC01493																		rs10768437	0.65655	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01493(dist=299950),LRRC4C(dist=1159002)	NONE(dist=NONE),LRRC4C(dist=1159002)	ENSG00000254562(dist=280958),ENSG00000240975(dist=206254)	Na	Na	Na	Na	Na	Na	Het;A>G	204;17|12	Hom;A>G	716;0|27
N	N	-	11	40714664	40714664	G	A	snp	intronic	 	 	 	 	LRRC4C	Lrrc4c	ENSG00000148948	leucine rich repeat containing 4C	chr11:40135753-41481323	NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]	Lipoproteins, VLDL; Cholesterol, LDL; Insulin; Tunica Media; Fibrinogen; Body Height; Asthma; Sleep; Albuminuria; Intuition; Tobacco Use Disorder; Insulin Resistance; Hip; Mental Competency; Magnesium	Homozygous mutant mice exhibited an increased mean serum IL-6 response to LPS challenge when compared with controls.  No other notable phenotype was detected in a high-througput screen.		GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050770;regulation of axonogenesis;IDA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRRC4C	https://www.uniprot.org/uniprot/Q9HCJ2		https://www.ncbi.nlm.nih.gov/omim/?term=608817	http://www.informatics.jax.org/searchtool/Search.do?query=LRRC4C&submit=Quick%0D%9178ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC4C	rs4130245	0.50639	0	0	1	0	0	intronic	intronic	intronic	LRRC4C	LRRC4C	ENSG00000148948	Na	Na	Na	Na	Na	Na	Het;G>A	259;10|13	Hom;G>A	783;0|29
N	N	-	11	4104319	4104319	A	C	snp	intronic	 	 	 	 	STIM1	Stim1	ENSG00000167323	stromal interaction molecule 1	chr11:3875757-4114439	This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]	Cholesterol, LDL; Apolipoproteins B; Cholesterol; Alzheimer's disease; asthma	Mice homozygous for a null allele exhibit perinatal and postnatal lethality, with all mice dying by 2 weeks of age, and severe growth retardation.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002115;store-operated calcium entry;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0014902;myotube differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0070166;enamel mineralization;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:2001256;regulation of store-operated calcium entry;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IEA|GO:0030426;growth cone;IEA|GO:0032541;cortical endoplasmic reticulum;IDA|GO:0033017;sarcoplasmic reticulum membrane;IDA|GO:0043234;protein complex;IEA	GO:0002020;protease binding;IPI|GO:0005246;calcium channel regulator activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STIM1		https://hpo.jax.org/app/browse/search?q=STIM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605921	http://www.informatics.jax.org/searchtool/Search.do?query=STIM1&submit=Quick%0D%11995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STIM1	rs2289571	0.128195	0	0	1	0	0	intronic	intronic	intronic	STIM1	STIM1	ENSG00000167323	Na	Na	Na	Na	Na	Na	Het;A>C	256;7|12	Hom;A>C	632;1|22
N	N	-	11	4208464	4208464	C	G	snp	ncRNA_intronic	 	 	 	 	LOC100506082																		rs11826292	0.113818	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100506082	LOC100506082	ENSG00000254480	Na	Na	Na	Na	Na	Na	Het;C>G	328;11|16	Hom;C>G	609;0|21
N	N	-	11	42324509	42324509	T	C	snp	intergenic	 	 	 	 	AC090458.1																		rs4756700	0.265974	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100507205(dist=49269),HNRNPKP3(dist=958545)	LOC100507205(dist=49269),HNRNPKP3(dist=958545)	ENSG00000255109(dist=49247),ENSG00000254914(dist=636816)	Na	Na	Na	Na	Na	Na	Het;T>C	96;1|5	Hom;T>C	261;0|11
N	N	-	11	42324576	42324576	A	C	snp	intergenic	 	 	 	 	AC090458.1																		rs4756701	0.314297	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100507205(dist=49336),HNRNPKP3(dist=958478)	LOC100507205(dist=49336),HNRNPKP3(dist=958478)	ENSG00000255109(dist=49314),ENSG00000254914(dist=636749)	Na	Na	Na	Na	Na	Na	Het;A>C	100;1|6	Hom;A>C	246;0|11
N	N	-	11	42375065	42375065	A	G	snp	intergenic	 	 	 	 	AC090458.1																		rs4438021	0.349241	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100507205(dist=99825),HNRNPKP3(dist=907989)	LOC100507205(dist=99825),HNRNPKP3(dist=907989)	ENSG00000255109(dist=99803),ENSG00000254914(dist=586260)	Na	Na	Na	Na	Na	Na	Het;A>G	98;2|4	Hom;A>G	224;0|7
N	N	-	11	43333476	43333476	G	T	snp	upstream	 	 	 	 	API5	Api5	ENSG00000166181	apoptosis inhibitor 5	chr11:43333513-43366079	This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	Cognitive performance	 		GO:0006915;apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:2000270;negative regulation of fibroblast apoptotic process;IEA	GO:0005634;nucleus;IDA|GO:0005681;spliceosomal complex;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017134;fibroblast growth factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/API5			https://www.ncbi.nlm.nih.gov/omim/?term=609774	http://www.informatics.jax.org/searchtool/Search.do?query=API5&submit=Quick%0D%11721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=API5	rs2279660	0.311502	0	0	1	0	0	upstream	upstream	upstream	API5	API5	ENSG00000166181	Na	Na	Na	Na	Na	Na	Het;G>T	215;12|9	Hom;G>T	601;0|20
N	N	-	11	43702530	43702530	A	G	snp	synonymous SNV	A153G	E51E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	HSD17B12	Hsd17b12	ENSG00000149084	hydroxysteroid 17-beta dehydrogenase 12	chr11:43577986-43878167	This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]	ovarian cancer | breast cancer ; Narcolepsy; Myocardial Infarction; Neuroblastoma	Mice homozygous for a gene trap allele exhibit die around E8.5 with abnormal embryonic and extraembryonic tissue development. ES cells heterozygous for this allele exhibit reduced arachidonic acid levels.	Synthesis of very long-chain fatty acyl-CoAs	GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006703;estrogen biosynthetic process;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001968;fibronectin binding;IEA|GO:0004303;estradiol 17-beta-dehydrogenase activity;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA|GO:0008201;heparin binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016509;long-chain-3-hydroxyacyl-CoA dehydrogenase activity;EXP|GO:0102339;3-oxo-arachidoyl-CoA reductase activity;IEA|GO:0102340;3-oxo-behenoyl-CoA reductase activity;IEA|GO:0102341;3-oxo-lignoceroyl-CoA reductase activity;IEA|GO:0102342;3-oxo-cerotoyl-CoA reductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSD17B12	https://www.uniprot.org/uniprot/Q53GQ0		https://www.ncbi.nlm.nih.gov/omim/?term=609574	http://www.informatics.jax.org/searchtool/Search.do?query=HSD17B12&submit=Quick%0D%9187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD17B12	rs56168061	0.102037	0.1726	0.1950	1	0	0	exonic	exonic	exonic	HSD17B12	HSD17B12	ENSG00000149084	synonymous SNV	synonymous SNV	unknown	HSD17B12:NM_016142:exon1:c.A153G:p.E51E,	HSD17B12:uc001mxq.4:exon1:c.A153G:p.E51E,	UNKNOWN	Het;A>G	695;26|30	Hom;A>G	1795;0|63
N	N	-	11	43775734	43775734	A	G	snp	intronic	 	 	 	 	HSD17B12	Hsd17b12	ENSG00000149084	hydroxysteroid 17-beta dehydrogenase 12	chr11:43577986-43878167	This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]	ovarian cancer | breast cancer ; Narcolepsy; Myocardial Infarction; Neuroblastoma	Mice homozygous for a gene trap allele exhibit die around E8.5 with abnormal embryonic and extraembryonic tissue development. ES cells heterozygous for this allele exhibit reduced arachidonic acid levels.	Synthesis of very long-chain fatty acyl-CoAs	GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006703;estrogen biosynthetic process;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001968;fibronectin binding;IEA|GO:0004303;estradiol 17-beta-dehydrogenase activity;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA|GO:0008201;heparin binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016509;long-chain-3-hydroxyacyl-CoA dehydrogenase activity;EXP|GO:0102339;3-oxo-arachidoyl-CoA reductase activity;IEA|GO:0102340;3-oxo-behenoyl-CoA reductase activity;IEA|GO:0102341;3-oxo-lignoceroyl-CoA reductase activity;IEA|GO:0102342;3-oxo-cerotoyl-CoA reductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSD17B12	https://www.uniprot.org/uniprot/Q53GQ0		https://www.ncbi.nlm.nih.gov/omim/?term=609574	http://www.informatics.jax.org/searchtool/Search.do?query=HSD17B12&submit=Quick%0D%9187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD17B12	rs4643069	0.643171	0.6614	0	1	0	0	intronic	intronic	intronic	HSD17B12	HSD17B12	ENSG00000149084	Na	Na	Na	Na	Na	Na	Het;A>G	160;11|6	Hom;A>G	754;0|24
N	N	-	11	44146257	44146257	A	G	snp	intronic	 	 	 	 	EXT2	Ext2	ENSG00000151348	exostosin glycosyltransferase 2	chr11:44117099-44266979	This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]	Hereditary multiple exostoses; Type 2 Diabetes| edema | rosiglitazone; osteochondromas; hereditary multiple exostoses; Bone Mineral Density; Hemoglobins; Diabetes Mellitus, Type 2|Hyperglycemia; Hematocrit; Coronary Disease; diabetes, type 2; Tobacco Use Disorder; Type 2 diabetes; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease	Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs.	HS-GAG biosynthesis	GO:0001503;ossification;IMP|GO:0001707;mesoderm formation;IEA|GO:0006024;glycosaminoglycan biosynthetic process;IEA|GO:0006486;protein glycosylation;IEA|GO:0007165;signal transduction;TAS|GO:0015012;heparan sulfate proteoglycan biosynthetic process;IEA|GO:0015014;heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process;IMP|GO:0030154;cell differentiation;IEA|GO:0033692;cellular polysaccharide biosynthetic process;IDA	GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043541;UDP-N-acetylglucosamine transferase complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008375;acetylglucosaminyltransferase activity;IDA|GO:0015020;glucuronosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IDA|GO:0042328;heparan sulfate N-acetylglucosaminyltransferase activity;NAS|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0050508;glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity;IEA|GO:0050509;N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/EXT2	https://www.uniprot.org/uniprot/Q93063	https://hpo.jax.org/app/browse/search?q=EXT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608210	http://www.informatics.jax.org/searchtool/Search.do?query=EXT2&submit=Quick%0D%9406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXT2	rs10769018	0.759585	0	0	1	0	0	intronic	intronic	intronic	EXT2	EXT2	ENSG00000151348	Na	Na	Na	Na	Na	Na	Het;A>G	590;27|26	Hom;A>G	1077;2|41
N	N	-	11	44373965	44373965	G	A	snp	intergenic	 	 	 	 	ALX4	Alx4	ENSG00000052850	ALX homeobox 4	chr11:44281994-44331716	This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Hematocrit; Leukocyte Count; Hemoglobins; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count; Cleft Lip|Cleft Palate; Myocardial Infarction; Coronary Disease; diabetes, type 2	Depending on genetic background mutant mice may show preaxial polydactyly and other skeletal alterations, transitory alopecia, ventral body wall defects and male sterility. Homozygous mice of one allele die prenatally.		GO:0001501;skeletal system development;NAS|GO:0001942;hair follicle development;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007517;muscle organ development;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0071837;HMG box domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALX4	https://www.uniprot.org/uniprot/Q9H161	https://hpo.jax.org/app/browse/search?q=ALX4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605420	http://www.informatics.jax.org/searchtool/Search.do?query=ALX4&submit=Quick%0D%952ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALX4	rs79758980	0.0794728	0	0	1	0	0	intergenic	intergenic	intergenic	ALX4(dist=42249),CD82(dist=213176)	ALX4(dist=42249),CD82(dist=213176)	ENSG00000052850(dist=42249),ENSG00000255451(dist=116049)	Na	Na	Na	Na	Na	Na	Het;G>A	48;1|3	Hom;G>A	105;0|4
N	N	-	11	45393866	45393866	A	ATT	indel	ncRNA_exonic	 	 	 	 	LOC399886																		rs34436131	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC399886	FLJ41423	ENSG00000255267	Na	Na	Na	Na	Na	Na	Het;+TT	1004;8|43	Hom;+TT	1427;3|56
N	N	-	11	45832935	45832935	G	A	snp	UTR3	*49G>A	 	 	 	SLC35C1	Slc35c1	ENSG00000181830	solute carrier family 35 member C1	chr11:45825623-45834566	This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]	Congenital disorder of glycosylation type 2C	Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion.  Mortality is increased on an inbred background.	Transport of nucleotide sugars	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015783;GDP-fucose transport;IEA|GO:0030259;lipid glycosylation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005457;GDP-fucose transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC35C1		https://hpo.jax.org/app/browse/search?q=SLC35C1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605881	http://www.informatics.jax.org/searchtool/Search.do?query=SLC35C1&submit=Quick%0D%14679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35C1	rs1139266	0.451278	0.6402	0.6741	1	0	0	UTR3	UTR3	UTR3	SLC35C1(NM_001145266:c.*49G>A,NM_001145265:c.*49G>A,NM_018389:c.*49G>A)	SLC35C1(uc001nbo.3:c.*49G>A,uc010rgm.2:c.*49G>A,uc001nbp.3:c.*49G>A)	ENSG00000181830(ENST00000456334:c.*49G>A,ENST00000442528:c.*49G>A,ENST00000314134:c.*49G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1293;48|59	Hom;G>A	2307;0|87
N	N	-	11	45834044	45834044	C	T	snp	UTR3	*1158C>T	 	 	 	SLC35C1	Slc35c1	ENSG00000181830	solute carrier family 35 member C1	chr11:45825623-45834566	This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]	Congenital disorder of glycosylation type 2C	Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion.  Mortality is increased on an inbred background.	Transport of nucleotide sugars	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015783;GDP-fucose transport;IEA|GO:0030259;lipid glycosylation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005457;GDP-fucose transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC35C1		https://hpo.jax.org/app/browse/search?q=SLC35C1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605881	http://www.informatics.jax.org/searchtool/Search.do?query=SLC35C1&submit=Quick%0D%14679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35C1	rs4756027	0.720647	0	0	1	0	0	UTR3	UTR3	UTR3	SLC35C1(NM_001145266:c.*1158C>T,NM_001145265:c.*1158C>T,NM_018389:c.*1158C>T)	SLC35C1(uc001nbo.3:c.*1158C>T,uc010rgm.2:c.*1158C>T,uc001nbp.3:c.*1158C>T)	ENSG00000181830(ENST00000456334:c.*1158C>T,ENST00000314134:c.*1158C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	132;6|6	Hom;C>T	522;0|20
N	N	-	11	45834198	45834198	T	C	snp	UTR3	*1312T>C	 	 	 	SLC35C1	Slc35c1	ENSG00000181830	solute carrier family 35 member C1	chr11:45825623-45834566	This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]	Congenital disorder of glycosylation type 2C	Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion.  Mortality is increased on an inbred background.	Transport of nucleotide sugars	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015783;GDP-fucose transport;IEA|GO:0030259;lipid glycosylation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005457;GDP-fucose transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC35C1		https://hpo.jax.org/app/browse/search?q=SLC35C1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605881	http://www.informatics.jax.org/searchtool/Search.do?query=SLC35C1&submit=Quick%0D%14679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35C1	rs7943306	0.653754	0	0.7743	1	0	0	UTR3	UTR3	UTR3	SLC35C1(NM_001145266:c.*1312T>C,NM_001145265:c.*1312T>C,NM_018389:c.*1312T>C)	SLC35C1(uc001nbo.3:c.*1312T>C,uc010rgm.2:c.*1312T>C,uc001nbp.3:c.*1312T>C)	ENSG00000181830(ENST00000456334:c.*1312T>C,ENST00000314134:c.*1312T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	277;13|15	Hom;T>C	591;0|21
N	N	-	11	45868850	45868850	C	CG	indel	intronic	 	 	 	 	CRY2	Cry2	ENSG00000121671	cryptochrome circadian clock 2	chr11:45868669-45904798	This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; glucose-stimulated beta cell function; Alcoholism; prostate cancer; Prostatic Neoplasms; Type 2 diabetes; fasting glucose-related traits ; Sleep Disorders; depression; Tobacco Use Disorder; Adenocarcinoma|Breast Neoplasms|Lymphoma, Non-Hodgkin; Sleep Deprivation; metabolic syndrome; schizophrenia | bipolar disorder; breast cancer; Glucose Tolerance Test; bipolar disorder; obesity	Homozygotes for targeted null mutations exhibit a one-hour longer circadian period under constant darkness, and reduced expression of another circadian gene in the suprachiasmatic nucleus in response to acute light exposure.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007623;circadian rhythm;ISS|GO:0009416;response to light stimulus;IMP|GO:0009785;blue light signaling pathway;NAS|GO:0018298;protein-chromophore linkage;IEA|GO:0019915;lipid storage;IEA|GO:0032515;negative regulation of phosphoprotein phosphatase activity;IDA|GO:0032868;response to insulin;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0042593;glucose homeostasis;ISS|GO:0042752;regulation of circadian rhythm;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0050896;response to stimulus;IEA|GO:2000118;regulation of sodium-dependent phosphate transport;IDA|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;ISS|GO:2000850;negative regulation of glucocorticoid secretion;IEA	GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000989;transcription factor activity, transcription factor binding;IDA|GO:0003677;DNA binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0009881;photoreceptor activity;IEA|GO:0009882;blue light photoreceptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0019900;kinase binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0035257;nuclear hormone receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0071949;FAD binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CRY2	https://www.uniprot.org/uniprot/Q49AN0		https://www.ncbi.nlm.nih.gov/omim/?term=603732	http://www.informatics.jax.org/searchtool/Search.do?query=CRY2&submit=Quick%0D%5334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRY2	rs11394694	0.501198	0.6447	0.7281	1	0	0	intronic	intronic	intronic	CRY2	CRY2	ENSG00000121671	Na	Na	Na	Na	Na	Na	Het;+G	882;30|33	Hom;+G	2544;1|77
N	N	-	11	45877529	45877529	A	G	snp	intronic	 	 	 	 	CRY2	Cry2	ENSG00000121671	cryptochrome circadian clock 2	chr11:45868669-45904798	This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; glucose-stimulated beta cell function; Alcoholism; prostate cancer; Prostatic Neoplasms; Type 2 diabetes; fasting glucose-related traits ; Sleep Disorders; depression; Tobacco Use Disorder; Adenocarcinoma|Breast Neoplasms|Lymphoma, Non-Hodgkin; Sleep Deprivation; metabolic syndrome; schizophrenia | bipolar disorder; breast cancer; Glucose Tolerance Test; bipolar disorder; obesity	Homozygotes for targeted null mutations exhibit a one-hour longer circadian period under constant darkness, and reduced expression of another circadian gene in the suprachiasmatic nucleus in response to acute light exposure.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007623;circadian rhythm;ISS|GO:0009416;response to light stimulus;IMP|GO:0009785;blue light signaling pathway;NAS|GO:0018298;protein-chromophore linkage;IEA|GO:0019915;lipid storage;IEA|GO:0032515;negative regulation of phosphoprotein phosphatase activity;IDA|GO:0032868;response to insulin;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0042593;glucose homeostasis;ISS|GO:0042752;regulation of circadian rhythm;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0050896;response to stimulus;IEA|GO:2000118;regulation of sodium-dependent phosphate transport;IDA|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;ISS|GO:2000850;negative regulation of glucocorticoid secretion;IEA	GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000989;transcription factor activity, transcription factor binding;IDA|GO:0003677;DNA binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0009881;photoreceptor activity;IEA|GO:0009882;blue light photoreceptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0019900;kinase binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0035257;nuclear hormone receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0071949;FAD binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CRY2	https://www.uniprot.org/uniprot/Q49AN0		https://www.ncbi.nlm.nih.gov/omim/?term=603732	http://www.informatics.jax.org/searchtool/Search.do?query=CRY2&submit=Quick%0D%5334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRY2	rs2292913	0.794928	0.9090	0.8785	1	0	0	intronic	intronic	intronic	CRY2	CRY2	ENSG00000121671	Na	Na	Na	Na	Na	Na	Het;A>G	583;17|28	Hom;A>G	1474;0|58
N	N	-	11	45877688	45877688	C	G	snp	intronic	 	 	 	 	CRY2	Cry2	ENSG00000121671	cryptochrome circadian clock 2	chr11:45868669-45904798	This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; glucose-stimulated beta cell function; Alcoholism; prostate cancer; Prostatic Neoplasms; Type 2 diabetes; fasting glucose-related traits ; Sleep Disorders; depression; Tobacco Use Disorder; Adenocarcinoma|Breast Neoplasms|Lymphoma, Non-Hodgkin; Sleep Deprivation; metabolic syndrome; schizophrenia | bipolar disorder; breast cancer; Glucose Tolerance Test; bipolar disorder; obesity	Homozygotes for targeted null mutations exhibit a one-hour longer circadian period under constant darkness, and reduced expression of another circadian gene in the suprachiasmatic nucleus in response to acute light exposure.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007623;circadian rhythm;ISS|GO:0009416;response to light stimulus;IMP|GO:0009785;blue light signaling pathway;NAS|GO:0018298;protein-chromophore linkage;IEA|GO:0019915;lipid storage;IEA|GO:0032515;negative regulation of phosphoprotein phosphatase activity;IDA|GO:0032868;response to insulin;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0042593;glucose homeostasis;ISS|GO:0042752;regulation of circadian rhythm;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0050896;response to stimulus;IEA|GO:2000118;regulation of sodium-dependent phosphate transport;IDA|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;ISS|GO:2000850;negative regulation of glucocorticoid secretion;IEA	GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000989;transcription factor activity, transcription factor binding;IDA|GO:0003677;DNA binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0009881;photoreceptor activity;IEA|GO:0009882;blue light photoreceptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0019900;kinase binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0035257;nuclear hormone receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0071949;FAD binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CRY2	https://www.uniprot.org/uniprot/Q49AN0		https://www.ncbi.nlm.nih.gov/omim/?term=603732	http://www.informatics.jax.org/searchtool/Search.do?query=CRY2&submit=Quick%0D%5334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRY2	rs2292912	0.499601	0.6310	0.6880	1	0	0	intronic	intronic	intronic	CRY2	CRY2	ENSG00000121671	Na	Na	Na	Na	Na	Na	Het;C>G	288;14|13	Hom;C>G	996;0|37
N	N	-	11	45891508	45891508	A	G	snp	intronic	 	 	 	 	CRY2	Cry2	ENSG00000121671	cryptochrome circadian clock 2	chr11:45868669-45904798	This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; glucose-stimulated beta cell function; Alcoholism; prostate cancer; Prostatic Neoplasms; Type 2 diabetes; fasting glucose-related traits ; Sleep Disorders; depression; Tobacco Use Disorder; Adenocarcinoma|Breast Neoplasms|Lymphoma, Non-Hodgkin; Sleep Deprivation; metabolic syndrome; schizophrenia | bipolar disorder; breast cancer; Glucose Tolerance Test; bipolar disorder; obesity	Homozygotes for targeted null mutations exhibit a one-hour longer circadian period under constant darkness, and reduced expression of another circadian gene in the suprachiasmatic nucleus in response to acute light exposure.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007623;circadian rhythm;ISS|GO:0009416;response to light stimulus;IMP|GO:0009785;blue light signaling pathway;NAS|GO:0018298;protein-chromophore linkage;IEA|GO:0019915;lipid storage;IEA|GO:0032515;negative regulation of phosphoprotein phosphatase activity;IDA|GO:0032868;response to insulin;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0042593;glucose homeostasis;ISS|GO:0042752;regulation of circadian rhythm;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0050896;response to stimulus;IEA|GO:2000118;regulation of sodium-dependent phosphate transport;IDA|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;ISS|GO:2000850;negative regulation of glucocorticoid secretion;IEA	GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000989;transcription factor activity, transcription factor binding;IDA|GO:0003677;DNA binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0009881;photoreceptor activity;IEA|GO:0009882;blue light photoreceptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0019900;kinase binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0035257;nuclear hormone receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0071949;FAD binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CRY2	https://www.uniprot.org/uniprot/Q49AN0		https://www.ncbi.nlm.nih.gov/omim/?term=603732	http://www.informatics.jax.org/searchtool/Search.do?query=CRY2&submit=Quick%0D%5334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRY2	rs4755345	0.783347	0	0	1	0	0	intronic	intronic	intronic	CRY2	CRY2	ENSG00000121671	Na	Na	Na	Na	Na	Na	Het;A>G	114;7|6	Hom;A>G	563;0|17
N	N	-	11	45926445	45926445	T	C	snp	intronic	 	 	 	 	MAPK8IP1	Mapk8ip1	ENSG00000121653	mitogen-activated protein kinase 8 interacting protein 1	chr11:45907202-45928016	This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]	Alzheimer's Disease	Homozygous mutation of this gene results in a decreased susceptibility to ischemic brain injury.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0007258;JUN phosphorylation;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0046328;regulation of JNK cascade;IEA|GO:0046329;negative regulation of JNK cascade;IEA|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0043005;neuron projection;IEA|GO:0044294;dendritic growth cone;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA|GO:0044302;dentate gyrus mossy fiber;IEA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004860;protein kinase inhibitor activity;TAS|GO:0005078;MAP-kinase scaffold activity;IPI|GO:0005515;protein binding;IPI|GO:0008432;JUN kinase binding;IEA|GO:0019894;kinesin binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0031434;mitogen-activated protein kinase kinase binding;IEA|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAPK8IP1	https://www.uniprot.org/uniprot/Q9UQF2		https://www.ncbi.nlm.nih.gov/omim/?term=604641	http://www.informatics.jax.org/searchtool/Search.do?query=MAPK8IP1&submit=Quick%0D%5333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK8IP1	rs2271847	0.705671	0	0	1	0	0	intronic	intronic	intronic	MAPK8IP1	MAPK8IP1	ENSG00000121653	Na	Na	Na	Na	Na	Na	Het;T>C	1015;31|45	Hom;T>C	2420;0|89
N	N	-	11	45931502	45931502	G	A	snp	UTR3	*138C>T	 	 	 	PEX16	Pex16	ENSG00000121680	peroxisomal biogenesis factor 16	chr11:45931220-45940363	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016557;peroxisome membrane biogenesis;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0022615;protein to membrane docking;IDA|GO:0032581;ER-dependent peroxisome organization;IDA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0070972;protein localization to endoplasmic reticulum;IDA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IMP|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX16	https://www.uniprot.org/uniprot/Q9Y5Y5	https://hpo.jax.org/app/browse/search?q=PEX16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603360	http://www.informatics.jax.org/searchtool/Search.do?query=PEX16&submit=Quick%0D%5335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX16	rs10838529	0.39357	0	0	1	0	0	UTR3	UTR3	UTR3	PEX16(NM_057174:c.*138C>T,NM_004813:c.*303C>T)	PEX16(uc001nbu.3:c.*303C>T,uc001nbt.3:c.*138C>T)	ENSG00000121680(ENST00000241041:c.*138C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1243;72|62	Hom;G>A	4132;0|157
N	N	-	11	45935253	45935253	C	T	snp	intronic	 	 	 	 	PEX16	Pex16	ENSG00000121680	peroxisomal biogenesis factor 16	chr11:45931220-45940363	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016557;peroxisome membrane biogenesis;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0022615;protein to membrane docking;IDA|GO:0032581;ER-dependent peroxisome organization;IDA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0070972;protein localization to endoplasmic reticulum;IDA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IMP|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX16	https://www.uniprot.org/uniprot/Q9Y5Y5	https://hpo.jax.org/app/browse/search?q=PEX16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603360	http://www.informatics.jax.org/searchtool/Search.do?query=PEX16&submit=Quick%0D%5335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX16	rs2271845	0.379193	0	0	1	0	0	intronic	intronic	intronic	PEX16	PEX16	ENSG00000121680	Na	Na	Na	Na	Na	Na	Het;C>T	256;6|10	Hom;C>T	358;0|11
N	N	-	11	45935384	45935384	A	G	snp	synonymous SNV	T873C	Y291Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	PEX16	Pex16	ENSG00000121680	peroxisomal biogenesis factor 16	chr11:45931220-45940363	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016557;peroxisome membrane biogenesis;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0022615;protein to membrane docking;IDA|GO:0032581;ER-dependent peroxisome organization;IDA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0070972;protein localization to endoplasmic reticulum;IDA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IMP|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX16	https://www.uniprot.org/uniprot/Q9Y5Y5	https://hpo.jax.org/app/browse/search?q=PEX16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603360	http://www.informatics.jax.org/searchtool/Search.do?query=PEX16&submit=Quick%0D%5335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX16	rs1132349	0.689097	0.8114	0.8155	1	0	0	exonic	exonic	exonic	PEX16	PEX16	ENSG00000121680	synonymous SNV	synonymous SNV	unknown	PEX16:NM_057174:exon9:c.T873C:p.Y291Y,PEX16:NM_004813:exon9:c.T873C:p.Y291Y,	PEX16:uc001nbu.3:exon9:c.T873C:p.Y291Y,PEX16:uc001nbt.3:exon9:c.T873C:p.Y291Y,	UNKNOWN	Het;A>G	2151;73|92	Hom;A>G	4078;0|152
N	N	-	11	45936035	45936035	G	A	snp	intronic	 	 	 	 	PEX16	Pex16	ENSG00000121680	peroxisomal biogenesis factor 16	chr11:45931220-45940363	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016557;peroxisome membrane biogenesis;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0022615;protein to membrane docking;IDA|GO:0032581;ER-dependent peroxisome organization;IDA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0070972;protein localization to endoplasmic reticulum;IDA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IMP|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX16	https://www.uniprot.org/uniprot/Q9Y5Y5	https://hpo.jax.org/app/browse/search?q=PEX16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603360	http://www.informatics.jax.org/searchtool/Search.do?query=PEX16&submit=Quick%0D%5335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX16	rs3802758	0.684904	0.8066	0.8101	1	0	0	intronic	intronic	intronic	PEX16	PEX16	ENSG00000121680	Na	Na	Na	Na	Na	Na	Het;G>A	880;47|45	Hom;G>A	1710;0|64
N	N	-	11	45937968	45937970	CTA	C	indel	intronic	 	 	 	 	PEX16	Pex16	ENSG00000121680	peroxisomal biogenesis factor 16	chr11:45931220-45940363	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016557;peroxisome membrane biogenesis;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0022615;protein to membrane docking;IDA|GO:0032581;ER-dependent peroxisome organization;IDA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0070972;protein localization to endoplasmic reticulum;IDA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IMP|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX16	https://www.uniprot.org/uniprot/Q9Y5Y5	https://hpo.jax.org/app/browse/search?q=PEX16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603360	http://www.informatics.jax.org/searchtool/Search.do?query=PEX16&submit=Quick%0D%5335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX16	rs3215273	0.378195	0	0	1	0	0	intronic	intronic	intronic	PEX16	PEX16	ENSG00000121680	Na	Na	Na	Na	Na	Na	Het;-TA	335;16|10	Hom;-TA	970;0|23
N	N	-	11	45944994	45944994	G	GC	indel	intronic	 	 	 	 	GYLTL1B	Gyltl1b																	rs33927614	0.688099	0.8095	0.8147	1	0	0	intronic	intronic	intronic	GYLTL1B	GYLTL1B	ENSG00000165905	Na	Na	Na	Na	Na	Na	Het;+C	484;7|15	Hom;+C	890;0|25
N	N	-	11	4594737	4594737	G	GT	indel	intronic	 	 	 	 	C11orf40		ENSG00000171987	chromosome 11 open reading frame 40	chr11:4592653-4599050		Calcium						http://www.genecards.org/index.php?path=/Search/keyword/C11orf40				http://www.informatics.jax.org/searchtool/Search.do?query=C11orf40&submit=Quick%0D%13059ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf40	rs5789333	0.0628994	0	0.0533	1	0	0	intronic	intronic	intronic	C11orf40	C11orf40	ENSG00000171987	Na	Na	Na	Na	Na	Na	Het;+T	206;5|11	Hom;+T	1036;0|26
N	N	-	11	45949201	45949201	C	T	snp	intronic	 	 	 	 	GYLTL1B	Gyltl1b																	rs884668	0.632188	0	0	1	0	0	intronic	intronic	intronic	GYLTL1B	GYLTL1B	ENSG00000165905	Na	Na	Na	Na	Na	Na	Het;C>T	358;24|19	Hom;C>T	1404;1|52
N	N	-	11	45959669	45959669	C	T	snp	intronic	 	 	 	 	PHF21A	Phf21a	ENSG00000135365	PHD finger protein 21A	chr11:45950871-46142985	The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]	Tobacco Use Disorder; Stroke; Waist Circumference; Alzheimer Disease; Menarche; Body Weights and Measures	Mice homozygous for a knock-out allele exhibit neonatal lethality and insufficient milk-sucking behavior.	Factors involved in megakaryocyte development and platelet production	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007596;blood coagulation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IEA	GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:1990391;DNA repair complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21A	https://www.uniprot.org/uniprot/Q96BD5	https://hpo.jax.org/app/browse/search?q=PHF21A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608325	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21A&submit=Quick%0D%7133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21A	rs10742773	0.868211	0.8474	0.9027	1	0	0	intronic	intronic	intronic	PHF21A	PHF21A	ENSG00000135365	Na	Na	Na	Na	Na	Na	Het;C>T	662;39|31	Hom;C>T	1952;0|65
N	N	-	11	46001229	46001229	G	C	snp	intronic	 	 	 	 	PHF21A	Phf21a	ENSG00000135365	PHD finger protein 21A	chr11:45950871-46142985	The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]	Tobacco Use Disorder; Stroke; Waist Circumference; Alzheimer Disease; Menarche; Body Weights and Measures	Mice homozygous for a knock-out allele exhibit neonatal lethality and insufficient milk-sucking behavior.	Factors involved in megakaryocyte development and platelet production	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007596;blood coagulation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IEA	GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:1990391;DNA repair complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21A	https://www.uniprot.org/uniprot/Q96BD5	https://hpo.jax.org/app/browse/search?q=PHF21A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608325	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21A&submit=Quick%0D%7133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21A	rs2946005	0.883387	0	0	1	0	0	intronic	intronic	intronic	PHF21A	PHF21A	ENSG00000135365	Na	Na	Na	Na	Na	Na	Het;G>C	69;7|4	Hom;G>C	435;0|12
N	N	-	11	4608542	4608542	C	T	snp	nonsynonymous SNV	C500T	T167M	polar,hydrophilic,neutral	hydrophobic,neutral	OR52I2	Olfr556	ENSG00000226288	olfactory receptor family 52 subfamily I member 2	chr11:4608021-4609135	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52I2				http://www.informatics.jax.org/searchtool/Search.do?query=OR52I2&submit=Quick%0D%18679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52I2	rs1847632	0.411542	0.2790	0.3486	0.62	8	13	exonic	exonic	exonic	OR52I2	OR52I2	ENSG00000226288	nonsynonymous SNV	nonsynonymous SNV	unknown	OR52I2:NM_001005170:exon1:c.C500T:p.T167M,	OR52I2:uc010qyh.2:exon1:c.C500T:p.T167M,	UNKNOWN	Het;C>T	2278;129|113	Hom;C>T	5694;4|220
N	N	-	11	46105688	46105688	G	A	snp	intronic	 	 	 	 	PHF21A	Phf21a	ENSG00000135365	PHD finger protein 21A	chr11:45950871-46142985	The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]	Tobacco Use Disorder; Stroke; Waist Circumference; Alzheimer Disease; Menarche; Body Weights and Measures	Mice homozygous for a knock-out allele exhibit neonatal lethality and insufficient milk-sucking behavior.	Factors involved in megakaryocyte development and platelet production	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007596;blood coagulation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IEA	GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:1990391;DNA repair complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21A	https://www.uniprot.org/uniprot/Q96BD5	https://hpo.jax.org/app/browse/search?q=PHF21A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608325	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21A&submit=Quick%0D%7133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21A	rs2932515	0.908147	0.8937	0.9207	1	0	0	intronic	intronic	intronic	PHF21A	PHF21A	ENSG00000135365	Na	Na	Na	Na	Na	Na	Het;G>A	1127;34|52	Hom;G>A	1348;0|50
N	N	-	11	46697199	46697199	G	C	snp	UTR3	*3317G>C	 	 	 	ATG13	Atg13	ENSG00000175224	autophagy related 13	chr11:46638826-46696368	The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]		Mice homozygous for a null mutation display lethality during fetal growth and development with thinning of the cardiac ventricular wall.	Macroautophagy	GO:0000045;autophagosome assembly;IMP|GO:0000423;macromitophagy;IEA|GO:0006914;autophagy;IEA|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0098780;response to mitochondrial depolarisation;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0000407;pre-autophagosomal structure;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:1990316;ATG1/ULK1 kinase complex;IPI	GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATG13			https://www.ncbi.nlm.nih.gov/omim/?term=615088	http://www.informatics.jax.org/searchtool/Search.do?query=ATG13&submit=Quick%0D%13664ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG13	rs10838611	0.377596	0	0	1	0	0	UTR3	UTR3	downstream	ATG13(NM_001205119:c.*3317G>C,NM_001205122:c.*3317G>C,NM_014741:c.*3317G>C,NM_001205120:c.*3317G>C,NM_001205121:c.*3317G>C,NM_001142673:c.*3317G>C)	ATG13(uc001nda.3:c.*3317G>C,uc009yld.3:c.*3317G>C,uc001ndb.3:c.*3317G>C,uc001ncz.3:c.*3317G>C,uc001ndc.3:c.*3317G>C,uc010rgv.2:c.*3317G>C)	ENSG00000175224	Na	Na	Na	Na	Na	Na	Het;G>C	859;36|35	Hom;G>C	1621;0|55
N	N	-	11	46744925	46744925	G	C	snp	intronic	 	 	 	 	F2	F2	ENSG00000180210	coagulation factor II, thrombin	chr11:46740730-46761056	Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 lead to various forms of thrombosis and dysprothrombinemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]	atrial fibrillation stroke, ischemic; Thrombophilia|Venous Thromboembolism; Thrombosis|Venous Thromboembolism; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; thromboembolism, venous, pregnancy-related; Brain Ischemia|Recurrence|Stroke; pregnancy-related first time venous thrombosis ; preterm labor; Abortion, Spontaneous|Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Hypercholesterolemia|LDLC levels; Activated Protein C Resistance|Retinal Vein Occlusion; Familial Mediterranean Fever; peripheral vascular disease; beta-thalassemia; acute traumatic spinal cord injury; Polycythemia Vera|Thrombocythemia, Hemorrhagic|Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Venous Thromboembolism|Venous Thrombosis; pregnancy complications; coronary artery disease; Myocardial Infarction; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Arteriosclerosis|Thrombophilia|Thrombosis; Bone necrosis|Osteonecrosis; breast cancer; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Albuminuria|Inflammation|Kidney Diseases; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Abortion, Habitual|Pregnancy Complications, Hematologic; HELLP Syndrome|Pre-Eclampsia; heart anomalies, congenital; preeclampsia; hypertension, gestational; Thromboembolism|Venous Thrombosis; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; pregnancy loss, recurrent; fetal loss; menopause; Abruptio Placentae|Thrombophilia; normal variation; Behcet Syndrome|Thrombophilia|Thrombosis; colorectal cancer; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Ischemia|Thrombosis; Abortion, Habitual|Pregnancy Complications|Thrombophilia; stroke; atherothrombotic cerebral infarction.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; Ischemia|Peripheral Vascular Diseases; migraine ; Abortion, Habitual|Recurrence; Type 2 diabetes; thrombotic diseases; thromboembolism, venous; Cerebral Palsy|; Fetal Growth Retardation|Thrombophilia; Angina pectoris|Apoplexy|Cardiovascular Diseases|Diabetes mellitus|Hyperlipidemias|Hypertension|Myocardial Infarction|Obesity|Stroke; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Hearing Loss, Sudden|Thrombosis; Activated Protein C Resistance|Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Thrombophilia|Venous Thrombosis; Pre-Eclampsia|Pregnancy Complications, Hematologic; preeclampsia; intrauterine growth retardation; Thrombophilia; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Retinal Vein Occlusion|Thrombophilia; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; pregnancy loss, recurrent; Birth Weight|Pre-Eclampsia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Alzheimer's disease ; Recurrence|Venous Thromboembolism; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Brain Diseases; thrombotic risk factors; unexplained foetal loss ; Stroke; Blood Platelet Disorders|Thrombophilia; thrombosis, deep vein; pulmonary thromboembolism; sickle cell anemia; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Thromboangiitis Obliterans|Thrombophilia; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Apoplexy|Brain Ischemia|Stroke; Peripheral Vascular Diseases|Systemic Scleroderma; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; cerebral venous thrombosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Coronary Disease; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; plasma prothrombin levels; restenosis; thrombosis, cerebral; Thrombosis; Pre-Eclampsia|Thrombophilia; splanchnic vein thrombosis; inflammatory bowel disease; Brain Ischemia|Stroke|Thrombophilia; ischemic stroke; Crohn Disease|Crohn's disease|Thromboembolism; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; HELLP Syndrome|Thrombophilia; stroke, ischemic; stroke, hemorrhagic; hearing loss/deafness; thrombosis, arterial thrombosis, venous; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Venous Thrombosis; Pregnancy Complications, Cardiovascular|Venous Thrombosis; coronary ischaemic syndrome; Choroidal Neovascularization|Macular Degeneration; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Brain Ischemia|Stroke; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; venous thrombosis; thrombophilia and vascular disease; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Thrombophilia|Thrombosis|Venous Thrombosis; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Cerebral Palsy|Hemiplegia; Small for gestational age infant; Epilepsy|Thrombophilia; cardiovascular risk; Thrombophilia|Venous Thrombosis; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; Neoplasms|Thrombophilia|Thrombosis; patent foramen ovale; Pulmonary Embolism|Recurrence; Heart Diseases|Hemorrhage; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Branch retinal vein occlusion; fetal loss | thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; hearing loss, sensorineural nonsyndromic; epithelial ovarian cancer ; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Cardiovascular Diseases; cerebrovascular disease, ischemic; bleeding complications; Infertility, Female; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; Thrombophilia|Varicose Ulcer|Varicose Veins; Activated Protein C Resistance|HELLP Syndrome; von Willebrand Disease; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Early occlusion of coronary by-pass; Venous Thrombosis; Coronary Disease|Coronary heart disease|Myocardial Infarction; atherosclerosis; Arterial Occlusive Diseases|Thrombosis; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Pregnancy Complications; elevated plasma prothrombin levels and an increase; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; pharmacogenetic studies; thrombophilia; Inflammation|Premature Birth; Intracranial Thrombosis; atherosclerosis, coronary; Recurrence|Thromboembolism; Hypertension|Stroke; Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; longevity; Coronary Disease|Hypertension; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; AHG deficiency disease|Hemophilia A; Coronary Disease|Coronary heart disease; Blood Coagulation Disorders, Inherited; Arteriosclerosis|Thrombosis; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Spinal cord infarction and recurrent venous thrombosis; hypertension, pregnancy induced; Hemophilia A|Hemophilia B|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; fetal loss, late; pregnancy loss, recurrent; Budd-Chiari syndrome liver transplant portal vein thrombosis; diabetes, type 2; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; warfarin response; Cerebral Palsy; Perioperative genomic profiles ; Heart Diseases|Hypercholesterolemia|Hypertension; hypertension; Cerebral Infarction; Retinal Vein Occlusion; factor V Leiden; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Activated Protein C Resistance|Eye Diseases|Hyperhomocysteinemia|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; intrauterine growth; Epistaxis|Thrombasthenia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Kidney Calculi; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; warfarin sensitivity; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Lupus Erythematosus, Systemic|Thrombosis; Coronary Disease|Hyperlipoproteinemia Type II; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; atherosclerosis|myocardial infarction; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Abortion, Habitual; thrombocytopenia; Fetal Growth Retardation|Pre-Eclampsia; patent ductus arteriosus; Vertebral Artery Dissection; Protein C Deficiency|Venous Thrombosis; Protein S Deficiency|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; myocardial infarction; bilateral iliac vein thrombosis; Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; intima-media thickness; obesity; retinal vascular occlusion; breast cancer ; recurrent pregnancy loss; Thrombophilia|Thrombosis; Peripheral Vascular Diseases; Activated Protein C Resistance|Thrombophilia; Thromboembolism|Thrombosis; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; metabolism disorders; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Arteriosclerosis|Peripheral Vascular Diseases; Abortion, Habitual|Infertility|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; Apoplexy|Stroke|Thrombosis; Hepatic artery thrombosis; aneurysmal subarachnoid hemorrhage; beta-thalassemia major; Behcet Syndrome|Thrombosis; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Hepatitis C, Chronic|Thrombosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; retinal vascular occlusion; Coronary Artery Disease; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Gastroschisis|Thromboembolism; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Myocardial Infarction|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; fetal loss, late; Venous Thromboembolism; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Arteriosclerosis|Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism|Venous Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Thromboembolism; Atrial Fibrillation|Thromboembolism|Thrombophilia; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Femur Head Necrosis|Thromboembolism; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Stomach Neoplasms|Thrombophilia; Brain Ischemia|Stroke|Vascular Diseases; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; obesity; Intracranial Thrombosis|Thrombophilia; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Pulmonary Embolism|Pulmonary Embolisms; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; thrombosis; acute myocardial infarction; null; Blood Coagulation Disorders, Inherited|Thrombophilia; Brain Ischemia|Intracranial Hemorrhages|Stroke; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombophilia|Thrombosis|Varicose Veins; Pregnancy Complications, Hematologic|Thrombosis; Fetal Death; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; pulmonary thromboembolism thromboembolism, venous; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Neoplasms|Thromboembolism|Venous Thrombosis; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; Hemorrhage|Thrombosis|von Willebrand Disease; Atherosclerosis|Coronary Artery Disease|; Amyotrophic Lateral Sclerosis|; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; venous thromboembolism; Intracranial Thrombosis|Stroke; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; retinal vascular occlusive disease; Thromboembolism|Thrombophilia; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Vascular Disease; Recurrence|Thrombophilia; Migraine Disorders; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Myocardial Infarction|Myocardial ischemia|Thrombosis; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; beta-Thalassemia|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Coronary Artery Disease|Hyperhomocysteinemia; polycystic ovary syndrome; pregnancy loss, recurrent; Coronary Artery Disease|; Recurrence|Thrombophilia|Venous Thromboembolism; Brain Ischemia; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Postoperative Complications|Venous Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Nervous System Diseases|Thromboembolism; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Cholesterol, HDL; stroke, ischemic; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Intracranial Thrombosis|Venous Thrombosis; antiphospholipid syndrome; cancer; thromboembolism, venous; thrombosis, deep vein; Acute Coronary Syndrome|; heart disease; Pulmonary Embolism|Thrombophilia; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Cerebral Infarction|Thrombosis; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Coronary Artery Disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Myocardial Infarction|Recurrence; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; recurrent abortions; aspirin resistance; Cardiovascular Diseases|; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; previous first episodes of deep-vein thrombosis; Atherosclerosis|Thrombophilia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Premature Birth|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Crohn's disease ulcerative colitis; Glucosephosphate Dehydrogenase Deficiency; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Varicose Ulcer|Venous Thrombosis; Antiphospholipid Syndrome|Thrombosis; placental vascular complications; Pregnancy-associated venous thromboembolism; birth weight; preterm delivery; lymphoproliferative disorders; Sinus Thrombosis, Intracranial|Thrombophilia; Thromboembolism|Thrombophilia|Venous Thrombosis; Hemolytic-Uremic Syndrome; Myocardial Ischemia; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; cerebrovascular disease; sickle cell anemia; Atherosclerosis|Thrombosis; Fractures, Bone; Behcet Syndrome|Venous Thrombosis; Budd-Chiari Syndrome; Puerperal Disorders|Sinus Thrombosis, Intracranial|Venous Thrombosis; Abortion, Spontaneous; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; myocardial infarct; Behcet's Disease; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; Abortion, Habitual|Thrombophilia; pregnancy loss; Recurrence|Thrombophilia|Venous Thrombosis; Infection|Inflammation|Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Arterial Occlusive Diseases|Thrombosis|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; massive thrombosis; varicose ulcers; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; Pre-Eclampsia; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thrombophilia	Homozygotes for targeted null mutations exhibit defects in yolk sac vasculature, internal bleeding, tissue necrosis, and die in mid- to late-gestation, or rarely, a few days after birth.	Regulation of Complement cascade	GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006953;acute-phase response;IEA|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007275;multicellular organism development;TAS|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IEA|GO:0009611;response to wounding;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010544;negative regulation of platelet activation;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0017187;peptidyl-glutamic acid carboxylation;TAS|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;TAS|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030307;positive regulation of cell growth;IEA|GO:0030449;regulation of complement activation;TAS|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0042730;fibrinolysis;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045861;negative regulation of proteolysis;IDA|GO:0048712;negative regulation of astrocyte differentiation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;IDA|GO:0051918;negative regulation of fibrinolysis;TAS|GO:0090218;positive regulation of lipid kinase activity;IDA|GO:1900182;positive regulation of protein localization to nucleus;IDA|GO:1900738;positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0005102;receptor binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0070053;thrombospondin receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/F2		https://hpo.jax.org/app/browse/search?q=F2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176930	http://www.informatics.jax.org/searchtool/Search.do?query=F2&submit=Quick%0D%14446ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F2	rs2070852	0.455272	0.5384	0.6026	1	0	0	intronic	intronic	intronic	F2	F2	ENSG00000180210	Na	Na	Na	Na	Na	Na	Het;G>C	1675;59|77	Hom;G>C	3246;2|117
N	N	-	11	46812227	46812227	T	C	snp	intronic	 	 	 	 	CKAP5	Ckap5	ENSG00000175216	cytoskeleton associated protein 5	chr11:46764598-46867847	This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	breast cancer; Bone Density	Mice homozygous for a transgenic gene disruption exhibit decreased body size and cleft palate.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007098;centrosome cycle;IMP|GO:0030951;establishment or maintenance of microtubule cytoskeleton polarity;IMP|GO:0046785;microtubule polymerization;IBA|GO:0050658;RNA transport;ISS|GO:0051298;centrosome duplication;IBA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0000930;gamma-tubulin complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;ISS|GO:0016020;membrane;IDA|GO:0035371;microtubule plus-end;IDA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051010;microtubule plus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CKAP5			https://www.ncbi.nlm.nih.gov/omim/?term=611142	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP5&submit=Quick%0D%13661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP5	rs7940578	0.584465	0	0	1	0	0	intronic	intronic	intronic	CKAP5	CKAP5	ENSG00000175216	Na	Na	Na	Na	Na	Na	Het;T>C	39;2|2	Hom;T>C	132;0|4
N	N	-	11	46822686	46822686	C	A	snp	intronic	 	 	 	 	CKAP5	Ckap5	ENSG00000175216	cytoskeleton associated protein 5	chr11:46764598-46867847	This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	breast cancer; Bone Density	Mice homozygous for a transgenic gene disruption exhibit decreased body size and cleft palate.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007098;centrosome cycle;IMP|GO:0030951;establishment or maintenance of microtubule cytoskeleton polarity;IMP|GO:0046785;microtubule polymerization;IBA|GO:0050658;RNA transport;ISS|GO:0051298;centrosome duplication;IBA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0000930;gamma-tubulin complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;ISS|GO:0016020;membrane;IDA|GO:0035371;microtubule plus-end;IDA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051010;microtubule plus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CKAP5			https://www.ncbi.nlm.nih.gov/omim/?term=611142	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP5&submit=Quick%0D%13661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP5	rs10734549	0.579073	0	0	1	0	0	intronic	intronic	intronic	CKAP5	CKAP5	ENSG00000175216	Na	Na	Na	Na	Na	Na	Het;C>A	378;11|16	Hom;C>A	1091;0|36
N	N	-	11	46840119	46840120	TG	T	indel	intronic	 	 	 	 	CKAP5	Ckap5	ENSG00000175216	cytoskeleton associated protein 5	chr11:46764598-46867847	This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	breast cancer; Bone Density	Mice homozygous for a transgenic gene disruption exhibit decreased body size and cleft palate.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007098;centrosome cycle;IMP|GO:0030951;establishment or maintenance of microtubule cytoskeleton polarity;IMP|GO:0046785;microtubule polymerization;IBA|GO:0050658;RNA transport;ISS|GO:0051298;centrosome duplication;IBA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0000930;gamma-tubulin complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;ISS|GO:0016020;membrane;IDA|GO:0035371;microtubule plus-end;IDA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051010;microtubule plus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CKAP5			https://www.ncbi.nlm.nih.gov/omim/?term=611142	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP5&submit=Quick%0D%13661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP5	rs398015963	0.440495	0	0	1	0	0	intronic	intronic	intronic	CKAP5	CKAP5	ENSG00000175216	Na	Na	Na	Na	Na	Na	Het;-G	135;7|7	Hom;-G	634;0|21
N	N	-	11	46879973	46879973	A	G	snp	ncRNA_intronic	 	 	 	 	LRP4-AS1																		rs3829940	0.582668	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRP4-AS1	LRP4-AS1	ENSG00000247675	Na	Na	Na	Na	Na	Na	Het;A>G	817;51|38	Hom;A>G	2039;0|75
N	N	-	11	46889713	46889713	T	C	snp	ncRNA_intronic	 	 	 	 	LRP4-AS1																		rs2306026	0.579673	0.6601	0.6862	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRP4-AS1	LRP4-AS1	ENSG00000247675	Na	Na	Na	Na	Na	Na	Het;T>C	313;18|13	Hom;T>C	727;0|24
N	N	-	11	46890165	46890165	C	T	snp	nonsynonymous SNV	G4937A	R1646Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs3816614	0.579673	0.6601	0.6847	0.23	3	13	exonic	exonic	exonic	LRP4	LRP4	ENSG00000134569	nonsynonymous SNV	nonsynonymous SNV	unknown	LRP4:NM_002334:exon33:c.G4937A:p.R1646Q,	LRP4:uc001ndn.4:exon33:c.G4937A:p.R1646Q,	UNKNOWN	Het;C>T	1579;52|72	Hom;C>T	2510;0|93
N	N	-	11	46890388	46890388	C	G	snp	ncRNA_intronic	 	 	 	 	LRP4-AS1																		rs2290884	0.532348	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRP4-AS1	LRP4-AS1	ENSG00000247675	Na	Na	Na	Na	Na	Na	Het;C>G	369;9|12	Hom;C>G	383;0|11
N	N	-	11	46893108	46893108	T	C	snp	nonsynonymous SNV	A4660G	S1554G	polar,hydrophilic,neutral	aliphatic,neutral	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs2306029	0.367612	0.4253	0.4942	0.62	8	13	exonic	exonic	exonic	LRP4	LRP4	ENSG00000134569	nonsynonymous SNV	nonsynonymous SNV	unknown	LRP4:NM_002334:exon31:c.A4660G:p.S1554G,	LRP4:uc001ndn.4:exon31:c.A4660G:p.S1554G,	UNKNOWN	Het;T>C	923;39|43	Hom;T>C	1806;0|69
N	N	-	11	46895378	46895378	G	A	snp	ncRNA_exonic	 	 	 	 	LRP4-AS1																		rs11039014	0.604034	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LRP4-AS1	LRP4-AS1	ENSG00000247675	Na	Na	Na	Na	Na	Na	Het;G>A	2284;139|112	Hom;G>A	5346;0|203
N	N	-	11	46897253	46897253	G	C	snp	intronic	 	 	 	 	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs2306032	0.445088	0.5148	0.5865	1	0	0	intronic	intronic	intronic	LRP4	LRP4	ENSG00000134569	Na	Na	Na	Na	Na	Na	Het;G>C	441;16|17	Hom;G>C	1048;0|34
N	N	-	11	46897995	46897995	G	T	snp	intronic	 	 	 	 	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs964551	0.580471	0.6602	0.6848	1	0	0	intronic	intronic	intronic	LRP4	LRP4	ENSG00000134569	Na	Na	Na	Na	Na	Na	Het;G>T	564;59|35	Hom;G>T	2149;0|87
N	N	-	11	46898771	46898771	T	C	snp	nonsynonymous SNV	A3256G	I1086V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs6485702	0.445887	0.5162	0.5849	0.31	4	13	exonic	exonic	exonic	LRP4	LRP4	ENSG00000134569	nonsynonymous SNV	nonsynonymous SNV	unknown	LRP4:NM_002334:exon23:c.A3256G:p.I1086V,	LRP4:uc001ndn.4:exon23:c.A3256G:p.I1086V,	UNKNOWN	Het;T>C	1670;89|73	Hom;T>C	4347;0|155
N	N	-	11	46907827	46907827	C	T	snp	intronic	 	 	 	 	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs2306027	0.521765	0.6066	0.6941	1	0	0	intronic	intronic	intronic	LRP4	LRP4	ENSG00000134569	Na	Na	Na	Na	Na	Na	Het;C>T	481;21|21	Hom;C>T	1127;0|35
N	N	-	11	46911457	46911457	T	C	snp	intronic	 	 	 	 	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs2306035	0.515575	0.6009	0.6633	1	0	0	intronic	intronic	intronic	LRP4	LRP4	ENSG00000134569	Na	Na	Na	Na	Na	Na	Het;T>C	771;29|32	Hom;T>C	1486;1|55
N	N	-	11	46911704	46911704	C	T	snp	intronic	 	 	 	 	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs2306036	0.669728	0.791	0.7613	1	0	0	intronic	intronic	intronic	LRP4	LRP4	ENSG00000134569	Na	Na	Na	Na	Na	Na	Het;C>T	700;19|28	Hom;C>T	850;0|30
N	N	-	11	46917983	46917983	G	A	snp	intronic	 	 	 	 	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs898604	0.667931	0	0	1	0	0	intronic	intronic	intronic	LRP4	LRP4	ENSG00000134569	Na	Na	Na	Na	Na	Na	Het;G>A	202;12|10	Hom;G>A	587;0|23
N	N	-	11	46924174	46924174	T	A	snp	intronic	 	 	 	 	LRP4	Lrp4	ENSG00000134569	LDL receptor related protein 4	chr11:46878419-46940193	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries	Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.	ECM proteoglycans	GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP4	https://www.uniprot.org/uniprot/O75096	https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604270	http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4	rs12807111	0.513978	0	0	1	0	0	intronic	intronic	intronic	LRP4	LRP4	ENSG00000134569	Na	Na	Na	Na	Na	Na	Het;T>A	95;4|4	Hom;T>A	71;0|4
N	N	-	11	47204175	47204175	A	T	snp	intronic	 	 	 	 	PACSIN3	Pacsin3	ENSG00000165912	protein kinase C and casein kinase substrate in neurons 3	chr11:47199076-47207994	This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]		 	Clathrin-mediated endocytosis	GO:0006897;endocytosis;IEA|GO:0030100;regulation of endocytosis;IBA|GO:0045806;negative regulation of endocytosis;ISS|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0065009;regulation of molecular function;IEA|GO:0097320;plasma membrane tubulation;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IBA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0008289;lipid binding;IDA|GO:0019855;calcium channel inhibitor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PACSIN3			https://www.ncbi.nlm.nih.gov/omim/?term=606513	http://www.informatics.jax.org/searchtool/Search.do?query=PACSIN3&submit=Quick%0D%11652ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PACSIN3	rs2279438	0.666534	0.7623	0.7044	1	0	0	intronic	intronic	intronic	PACSIN3	PACSIN3	ENSG00000165912	Na	Na	Na	Na	Na	Na	Het;A>T	967;50|48	Hom;A>T	1856;0|70
N	N	-	11	48328644	48328644	C	T	snp	synonymous SNV	C870T	N290N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OR4S1		ENSG00000176555	olfactory receptor family 4 subfamily S member 1	chr11:48327775-48328704	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]			Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR4S1				http://www.informatics.jax.org/searchtool/Search.do?query=OR4S1&submit=Quick%0D%13877ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4S1	rs753095	0.43131	0.3627	0.3380	1	0	0	exonic	exonic	exonic	OR4S1	OR4S1	ENSG00000176555	synonymous SNV	synonymous SNV	unknown	OR4S1:NM_001004725:exon1:c.C870T:p.N290N,	OR4S1:uc010rhu.2:exon1:c.C870T:p.N290N,	UNKNOWN	Het;C>T	1199;81|63	Hom;C>T	4015;0|149
N	N	-	11	4976788	4976788	C	A	snp	nonsynonymous SNV	G156T	K52N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	OR51A2		ENSG00000205496		chr11:4976002-4976943	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Mass Index		Olfactory Signaling Pathway	GO:0007165;signal transduction;IBA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR51A2				http://www.informatics.jax.org/searchtool/Search.do?query=OR51A2&submit=Quick%0D%17524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR51A2	rs35318834	0.0736821	0.0776	0.0963	0.33	4	12	exonic	exonic	exonic	OR51A2	OR51A2	ENSG00000205496	nonsynonymous SNV	nonsynonymous SNV	unknown	OR51A2:NM_001004748:exon1:c.G156T:p.K52N,	OR51A2:uc010qyt.2:exon1:c.G156T:p.K52N,	UNKNOWN	Het;C>A	2696;13|112	Hom;C>A	2605;7|112
N	N	-	11	5012894	5012894	A	G	snp	intronic	 	 	 	 	MMP26		ENSG00000167346	matrix metallopeptidase 26	chr11:4726157-5013659	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme may degrade collagen type IV, fibronectin, fibrinogen, and beta-casein, and activate matrix metalloproteinase-9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The encoded protein may promote cell invasion in multiple human cancers. [provided by RefSeq, May 2016]	ovarian cancer; Coronary Disease; Type 2 diabetes; Mucocutaneous Lymph Node Syndrome			GO:0006508;proteolysis;IEA|GO:0030574;collagen catabolic process;IEA|GO:0050728;negative regulation of inflammatory response;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP26			https://www.ncbi.nlm.nih.gov/omim/?term=605470	http://www.informatics.jax.org/searchtool/Search.do?query=MMP26&submit=Quick%0D%11999ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP26	rs2499958	0.474641	0	0	1	0	0	intronic	intronic	intronic	MMP26	MMP26	ENSG00000167346	Na	Na	Na	Na	Na	Na	Het;A>G	94;9|4	Hom;A>G	304;0|9
N	N	-	11	507443	507444	TC	T	indel	upstream	 	 	 	 	RNH1	Rnh1	ENSG00000276230	ribonuclease/angiogenin inhibitor 1	chr11:494512-507300	Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]	skin cancer, non-melanoma	Mice homozygous for a knock-out allele exhibit complete embryonic lethality and anemia associated with defects in embryonic erythropoiesis, erythroid differentiation, and GATA1 translation. Heterozygotes exhibit decreased adult erythropoiesis in spleen.		GO:0006402;mRNA catabolic process;NAS|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045765;regulation of angiogenesis;IDA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0032311;angiogenin-PRI complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008428;ribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RNH1	https://www.uniprot.org/uniprot/P13489		https://www.ncbi.nlm.nih.gov/omim/?term=173320	http://www.informatics.jax.org/searchtool/Search.do?query=RNH1&submit=Quick%0D%21557ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNH1	rs34498382	0.427915	0	0	1	0	0	upstream	upstream	upstream	RNH1	RNH1	ENSG00000023191	Na	Na	Na	Na	Na	Na	Het;-C	66;7|3	Hom;-C	98;0|3
N	N	-	11	507447	507447	C	T	snp	upstream	 	 	 	 	RNH1	Rnh1	ENSG00000276230	ribonuclease/angiogenin inhibitor 1	chr11:494512-507300	Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]	skin cancer, non-melanoma	Mice homozygous for a knock-out allele exhibit complete embryonic lethality and anemia associated with defects in embryonic erythropoiesis, erythroid differentiation, and GATA1 translation. Heterozygotes exhibit decreased adult erythropoiesis in spleen.		GO:0006402;mRNA catabolic process;NAS|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045765;regulation of angiogenesis;IDA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0032311;angiogenin-PRI complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008428;ribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RNH1	https://www.uniprot.org/uniprot/P13489		https://www.ncbi.nlm.nih.gov/omim/?term=173320	http://www.informatics.jax.org/searchtool/Search.do?query=RNH1&submit=Quick%0D%21557ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNH1	rs577649886	0.459065	0	0	1	0	0	upstream	upstream	upstream	RNH1	RNH1	ENSG00000023191	Na	Na	Na	Na	Na	Na	Het;C>T	75;7|3	Hom;C>T	107;0|3
N	N	-	11	5153261	5153261	A	G	snp	synonymous SNV	T612C	F204F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	OR52A5	Olfr69	ENSG00000171944	olfactory receptor family 52 subfamily A member 5	chr11:5152922-5153872	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IBA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OR52A5				http://www.informatics.jax.org/searchtool/Search.do?query=OR52A5&submit=Quick%0D%13050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52A5	rs2472530	0.198682	0.1572	0.2196	1	0	0	exonic	exonic	exonic	OR52A5	OR52A5	ENSG00000171944	synonymous SNV	synonymous SNV	unknown	OR52A5:NM_001005160:exon1:c.T612C:p.F204F,	OR52A5:uc010qyx.2:exon1:c.T612C:p.F204F,	UNKNOWN	Het;A>G	2092;98|96	Hom;A>G	5527;4|193
N	N	-	11	51579501	51579501	G	A	snp	intergenic	 	 	 	 	OR4C50P																		rs4874400	0.000599042	0	0	1	0	0	intergenic	intergenic	intergenic	OR4C46(dist=63290),NONE(dist=NONE)	OR4C46(dist=63290),NONE(dist=NONE)	ENSG00000237610(dist=51701),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	634;4|22	Hom;G>A	1547;0|32
N	N	-	11	552788	552788	G	C	snp	intronic	 	 	 	 	LRRC56	Lrrc56	ENSG00000273831	leucine rich repeat containing 56	chr11:537527-554916			 					http://www.genecards.org/index.php?path=/Search/keyword/LRRC56		https://hpo.jax.org/app/browse/search?q=LRRC56&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=LRRC56&submit=Quick%0D%20996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC56	rs11246182	0.624401	0	0	1	0	0	intronic	intronic	intronic	LRRC56	LRRC56	ENSG00000161328	Na	Na	Na	Na	Na	Na	Het;G>C	127;3|6	Hom;G>C	281;0|5
N	N	-	11	5573054	5573054	A	G	snp	ncRNA_exonic	 	 	 	 	OR52H2P																		rs9666982	0.556909	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR52H1(dist=6301),OR52B6(dist=29053)	OR52H1(dist=6301),NONE(dist=NONE)	ENSG00000248553	Na	Na	Na	Na	Na	Na	Het;A>G	120;2|4	Hom;A>G	291;0|7
N	N	-	11	5573073	5573073	A	G	snp	ncRNA_exonic	 	 	 	 	OR52H2P																		rs1694674	0.556709	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR52H1(dist=6320),OR52B6(dist=29034)	OR52H1(dist=6320),NONE(dist=NONE)	ENSG00000248553	Na	Na	Na	Na	Na	Na	Het;A>G	166;3|7	Hom;A>G	230;0|7
N	N	-	11	5573315	5573315	A	G	snp	ncRNA_exonic	 	 	 	 	OR52H2P																		rs382979	0.556909	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR52H1(dist=6562),OR52B6(dist=28792)	OR52H1(dist=6562),NONE(dist=NONE)	ENSG00000248553	Na	Na	Na	Na	Na	Na	Het;A>G	429;21|21	Hom;A>G	1241;0|44
N	N	-	11	5573357	5573357	T	C	snp	ncRNA_exonic	 	 	 	 	OR52H2P																		rs408409	0.556909	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR52H1(dist=6604),OR52B6(dist=28750)	OR52H1(dist=6604),NONE(dist=NONE)	ENSG00000248553	Na	Na	Na	Na	Na	Na	Het;T>C	104;14|6	Hom;T>C	628;0|24
N	N	-	11	55944048	55944048	G	C	snp	upstream	 	 	 	 	OR5J2	Olfr1052	ENSG00000174957	olfactory receptor family 5 subfamily J member 2	chr11:55944094-55945032	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR5J2				http://www.informatics.jax.org/searchtool/Search.do?query=OR5J2&submit=Quick%0D%13612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5J2	rs10896103	0.766374	0.6815	0.7106	1	0	0	upstream	upstream	upstream	OR5J2	OR5J2	ENSG00000174957	Na	Na	Na	Na	Na	Na	Het;G>C	331;23|16	Hom;G>C	935;0|29
N	N	-	11	55972758	55972758	C	T	snp	ncRNA_exonic	 	 	 	 	AC022882.1																		rs10736655	0.765775	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR5J2(dist=27726),OR5T2(dist=26824)	OR5J2(dist=27726),OR5T2(dist=26824)	ENSG00000213604	Na	Na	Na	Na	Na	Na	Het;C>T	532;22|27	Hom;C>T	2127;0|83
N	N	-	11	5602438	5602438	T	A	snp	nonsynonymous SNV	T332A	L111H	aliphatic,hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	OR52B6	Olfr618	ENSG00000187747	olfactory receptor family 52 subfamily B member 6	chr11:5602107-5603114	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Height; Forced Vital Capacity	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52B6				http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6	rs2341432	0.715056	0.5459	0.5745	0.08	1	13	exonic	exonic	exonic	OR52B6	OR52B6	ENSG00000187747	nonsynonymous SNV	nonsynonymous SNV	unknown	OR52B6:NM_001005162:exon1:c.T332A:p.L111H,	OR52B6:uc010qzi.2:exon1:c.T332A:p.L111H,	UNKNOWN	Het;T>A	1782;82|79	Hom;T>A	4293;1|152
N	N	-	11	5602615	5602615	A	G	snp	nonsynonymous SNV	A509G	H170R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	OR52B6	Olfr618	ENSG00000187747	olfactory receptor family 52 subfamily B member 6	chr11:5602107-5603114	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Height; Forced Vital Capacity	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52B6				http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6	rs2341434	0.716653	0.5453	0.5746	0.15	2	13	exonic	exonic	exonic	OR52B6	OR52B6	ENSG00000187747	nonsynonymous SNV	nonsynonymous SNV	unknown	OR52B6:NM_001005162:exon1:c.A509G:p.H170R,	OR52B6:uc010qzi.2:exon1:c.A509G:p.H170R,	UNKNOWN	Het;A>G	4064;174|110	Hom;A>G	8870;3|242
N	N	-	11	5602679	5602679	T	C	snp	synonymous SNV	T573C	N191N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OR52B6	Olfr618	ENSG00000187747	olfactory receptor family 52 subfamily B member 6	chr11:5602107-5603114	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Height; Forced Vital Capacity	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52B6				http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6	rs892336	0.716454	0.5493	0.5744	1	0	0	exonic	exonic	exonic	OR52B6	OR52B6	ENSG00000187747	synonymous SNV	synonymous SNV	unknown	OR52B6:NM_001005162:exon1:c.T573C:p.N191N,	OR52B6:uc010qzi.2:exon1:c.T573C:p.N191N,	UNKNOWN	Het;T>C	1711;118|75	Hom;T>C	5829;2|203
N	N	-	11	5602790	5602790	A	G	snp	synonymous SNV	A684G	L228L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR52B6	Olfr618	ENSG00000187747	olfactory receptor family 52 subfamily B member 6	chr11:5602107-5603114	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Height; Forced Vital Capacity	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52B6				http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6	rs2163946	0.716853	0.5518	0.5741	1	0	0	exonic	exonic	exonic	OR52B6	OR52B6	ENSG00000187747	synonymous SNV	synonymous SNV	unknown	OR52B6:NM_001005162:exon1:c.A684G:p.L228L,	OR52B6:uc010qzi.2:exon1:c.A684G:p.L228L,	UNKNOWN	Het;A>G	1875;75|82	Hom;A>G	4730;1|162
N	N	-	11	5602928	5602928	G	C	snp	synonymous SNV	G822C	A274A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR52B6	Olfr618	ENSG00000187747	olfactory receptor family 52 subfamily B member 6	chr11:5602107-5603114	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Height; Forced Vital Capacity	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52B6				http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6	rs10838375	0.715855	0.5483	0.5738	1	0	0	exonic	exonic	exonic	OR52B6	OR52B6	ENSG00000187747	synonymous SNV	synonymous SNV	unknown	OR52B6:NM_001005162:exon1:c.G822C:p.A274A,	OR52B6:uc010qzi.2:exon1:c.G822C:p.A274A,	UNKNOWN	Het;G>C	1618;107|78	Hom;G>C	3729;1|120
N	N	-	11	5602968	5602968	G	A	snp	nonsynonymous SNV	G862A	V288I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR52B6	Olfr618	ENSG00000187747	olfactory receptor family 52 subfamily B member 6	chr11:5602107-5603114	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Height; Forced Vital Capacity	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52B6				http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6	rs10769086	0.894569	0.8167	0.8101	0.08	1	13	exonic	exonic	exonic	OR52B6	OR52B6	ENSG00000187747	nonsynonymous SNV	nonsynonymous SNV	unknown	OR52B6:NM_001005162:exon1:c.G862A:p.V288I,	OR52B6:uc010qzi.2:exon1:c.G862A:p.V288I,	UNKNOWN	Het;G>A	1461;117|76	Hom;G>A	4197;0|150
N	N	-	11	5603163	5603163	G	A	snp	downstream	 	 	 	 	OR52B6	Olfr618	ENSG00000187747	olfactory receptor family 52 subfamily B member 6	chr11:5602107-5603114	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Body Height; Forced Vital Capacity	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR52B6				http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6	rs10838377	0.716853	0.5425	0.5679	1	0	0	downstream	downstream	ncRNA_intronic	OR52B6	OR52B6	ENSG00000239920	Na	Na	Na	Na	Na	Na	Het;G>A	415;29|21	Hom;G>A	1425;0|49
N	N	-	11	56043702	56043702	G	C	snp	synonymous SNV	G588C	L196L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR5T1		ENSG00000262784	olfactory receptor family 5 subfamily T member 1	chr11:56043029-56044146	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]			Olfactory Signaling Pathway	GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA	GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR5T1				http://www.informatics.jax.org/searchtool/Search.do?query=OR5T1&submit=Quick%0D%20514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5T1	rs7125697	0.765775	0.6797	0.7123	1	0	0	exonic	exonic	exonic	OR5T1	OR5T1	ENSG00000181698	synonymous SNV	synonymous SNV	unknown	OR5T1:NM_001004745:exon1:c.G588C:p.L196L,	OR5T1:uc001nio.1:exon1:c.G588C:p.L196L,	UNKNOWN	Het;G>C	2085;112|98	Hom;G>C	6345;0|217
N	N	-	11	56086147	56086147	T	G	snp	nonsynonymous SNV	T365G	L122R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	OR8K3	Olfr1054	ENSG00000280314	olfactory receptor family 8 subfamily K member 3 (gene/pseudogene)	chr11:56085783-56086721	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR8K3				http://www.informatics.jax.org/searchtool/Search.do?query=OR8K3&submit=Quick%0D%22204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR8K3	rs960193	0.785543	0.6816	0.7218	0.08	1	13	exonic	exonic	exonic	OR8K3	OR8K3	ENSG00000181689	nonsynonymous SNV	nonsynonymous SNV	unknown	OR8K3:NM_001005202:exon1:c.T365G:p.L122R,	OR8K3:uc010rjf.2:exon1:c.T365G:p.L122R,	UNKNOWN	Het;T>G	2698;105|120	Hom;T>G	6039;0|215
N	N	-	11	56099991	56099991	C	T	snp	upstream	 	 	 	 	FAM8A2P																		rs10896227	0.78095	0	0	1	0	0	intergenic	intergenic	upstream	OR8K3(dist=13270),OR8K1(dist=13524)	OR8K3(dist=13270),OR8K1(dist=13524)	ENSG00000254722	Na	Na	Na	Na	Na	Na	Het;C>T	206;9|12	Hom;C>T	642;0|26
N	N	-	11	56102653	56102653	A	C	snp	ncRNA_exonic	 	 	 	 	OR8K2P																		rs6591233	0.747005	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR8K3(dist=15932),OR8K1(dist=10862)	OR8K3(dist=15932),OR8K1(dist=10862)	ENSG00000255134	Na	Na	Na	Na	Na	Na	Het;A>C	129;4|7	Hom;A>C	343;0|12
N	N	-	11	56113516	56113516	T	C	snp	nonsynonymous SNV	T2C	M1T	hydrophobic,neutral	polar,hydrophilic,neutral	OR8K1	Olfr1046	ENSG00000263328	olfactory receptor family 8 subfamily K member 1	chr11:56113421-56114507	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR8K1	https://www.uniprot.org/uniprot/Q8NGG5			http://www.informatics.jax.org/searchtool/Search.do?query=OR8K1&submit=Quick%0D%20566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR8K1	rs1905055	0.779952	0.6790	0.7243	0.18	2	11	exonic	exonic	exonic	OR8K1	OR8K1	ENSG00000150261	nonsynonymous SNV	nonsynonymous SNV	unknown	OR8K1:NM_001002907:exon1:c.T2C:p.M1T,	OR8K1:uc010rjg.2:exon1:c.T2C:p.M1T,	UNKNOWN	Het;T>C	822;37|29	Hom;T>C	2052;0|67
N	N	-	11	56511354	56511354	G	A	snp	ncRNA_exonic	 	 	 	 	MIR6128																		rs67042258	0.203075	0	0.2361	1	0	0	ncRNA_exonic	upstream	upstream	MIR6128	OR9G4	ENSG00000172457	Na	Na	Na	Na	Na	Na	Het;G>A	893;46|42	Hom;G>A	1592;0|58
N	N	-	11	56756664	56756664	G	A	snp	nonsynonymous SNV	G276A	M92I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR5AK2	Olfr993	ENSG00000181273	olfactory receptor family 5 subfamily AK member 2	chr11:56756347-56757342	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR5AK2				http://www.informatics.jax.org/searchtool/Search.do?query=OR5AK2&submit=Quick%0D%14599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5AK2	rs2853083	0.709465	0.6982	0.6355	0.08	1	13	exonic	exonic	exonic	OR5AK2	OR5AK2	ENSG00000181273	nonsynonymous SNV	nonsynonymous SNV	unknown	OR5AK2:NM_001005323:exon1:c.G276A:p.M92I,	OR5AK2:uc010rjp.2:exon1:c.G276A:p.M92I,	UNKNOWN	Het;G>A	550;23|20	Hom;G>A	1241;0|41
N	N	-	11	57379170	57379170	A	G	snp	intronic	 	 	 	 	SERPING1	Serping1	ENSG00000149131	serpin family G member 1	chr11:57364860-57382326	This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008]	longevity; Otitis Media|Recurrence; Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type II hereditary angio-oedema; Choroid Diseases; Chronic renal failure|Kidney Failure, Chronic; ovarian cancer; Choroidal Neovascularization|Macular Degeneration; Macular Degeneration; meningococcal disease; macular degeneration; Lymphoma, Non-Hodgkin	Mutant mice exhibit an increased vascular permeability compared to controls.	Regulation of Complement cascade	GO:0001869;negative regulation of complement activation, lectin pathway;IDA|GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007568;aging;IEA|GO:0007596;blood coagulation;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0042730;fibrinolysis;IEA|GO:0045087;innate immune response;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPING1	https://www.uniprot.org/uniprot/P05155	https://hpo.jax.org/app/browse/search?q=SERPING1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606860	http://www.informatics.jax.org/searchtool/Search.do?query=SERPING1&submit=Quick%0D%9194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPING1	rs2511988	0.483826	0.6265	0.5866	1	0	0	intronic	intronic	intronic	SERPING1	SERPING1	ENSG00000149131	Na	Na	Na	Na	Na	Na	Het;A>G	563;23|27	Hom;A>G	1752;0|59
N	N	-	11	58059530	58059530	T	C	snp	ncRNA_exonic	 	 	 	 	AP000435.2																		rs12270110	0.319888	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR10W1(dist=23798),OR5B17(dist=66068)	OR10W1(dist=23798),OR5B17(dist=66068)	ENSG00000272900	Na	Na	Na	Na	Na	Na	Het;T>C	1485;58|67	Hom;T>C	2953;2|110
N	N	-	11	58155809	58155809	G	A	snp	ncRNA_exonic	 	 	 	 	AP002345.2																		rs10792167	0.533347	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR5B17(dist=29267),OR5B3(dist=14129)	OR5B17(dist=29267),OR5B3(dist=14129)	ENSG00000273408	Na	Na	Na	Na	Na	Na	Het;G>A	78;8|6	Hom;G>A	253;0|11
N	N	-	11	58190136	58190136	A	G	snp	nonsynonymous SNV	T599C	M200T	hydrophobic,neutral	polar,hydrophilic,neutral	OR5B2		ENSG00000172365	olfactory receptor family 5 subfamily B member 2	chr11:58189738-58190786	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]			Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR5B2				http://www.informatics.jax.org/searchtool/Search.do?query=OR5B2&submit=Quick%0D%13144ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5B2	rs4298923	0.491414	0.5003	0.4458	0.33	4	12	exonic	exonic	exonic	OR5B2	OR5B2	ENSG00000172365	nonsynonymous SNV	nonsynonymous SNV	unknown	OR5B2:NM_001005566:exon1:c.T599C:p.M200T,	OR5B2:uc010rkg.2:exon1:c.T599C:p.M200T,	UNKNOWN	Het;A>G	745;33|34	Hom;A>G	2137;0|79
N	N	-	11	58378382	58378382	G	C	snp	ncRNA_intronic	 	 	 	 	ZFP91-CNTF	Zfp91	ENSG00000255073	ZFP91-CNTF readthrough (NMD candidate)	chr11:58346645-58392112	This gene represents a read-through transcript composed of ZFP91 and CNTF sequence. This transcript is thought to be non-coding because it would be subject to nonsense-mediated mRNA decay (NMD). Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Aug 2008]		 				GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP91-CNTF				http://www.informatics.jax.org/searchtool/Search.do?query=ZFP91-CNTF&submit=Quick%0D%20107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP91-CNTF	rs2245938	0.495008	0.5003	0.4576	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	ZFP91-CNTF	ZFP91-CNTF	ENSG00000186660,ENSG00000255073	Na	Na	Na	Na	Na	Na	Het;G>C	321;24|18	Hom;G>C	993;0|36
N	N	-	11	58381686	58381686	A	G	snp	ncRNA_intronic	 	 	 	 	ZFP91-CNTF	Zfp91	ENSG00000255073	ZFP91-CNTF readthrough (NMD candidate)	chr11:58346645-58392112	This gene represents a read-through transcript composed of ZFP91 and CNTF sequence. This transcript is thought to be non-coding because it would be subject to nonsense-mediated mRNA decay (NMD). Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Aug 2008]		 				GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP91-CNTF				http://www.informatics.jax.org/searchtool/Search.do?query=ZFP91-CNTF&submit=Quick%0D%20107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP91-CNTF	rs1938596	0.497005	0.5029	0.4537	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	ZFP91-CNTF	ZFP91-CNTF	ENSG00000186660,ENSG00000255073	Na	Na	Na	Na	Na	Na	Het;A>G	968;61|50	Hom;A>G	2992;0|105
N	N	-	11	58392951	58392951	T	C	snp	ncRNA_exonic	 	 	 	 	ZFP91-CNTF	Zfp91	ENSG00000255073	ZFP91-CNTF readthrough (NMD candidate)	chr11:58346645-58392112	This gene represents a read-through transcript composed of ZFP91 and CNTF sequence. This transcript is thought to be non-coding because it would be subject to nonsense-mediated mRNA decay (NMD). Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Aug 2008]		 				GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP91-CNTF				http://www.informatics.jax.org/searchtool/Search.do?query=ZFP91-CNTF&submit=Quick%0D%20107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP91-CNTF	rs2515362	0.48742	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	ZFP91-CNTF	ZFP91-CNTF	ENSG00000242689(ENST00000361987:c.*956T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1295;73|57	Hom;T>C	5320;0|183
N	N	-	11	58654152	58654152	T	G	snp	ncRNA_intronic	 	 	 	 	AB231721																		rs550272	0.670128	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	GLYATL2(dist=42155),GLYATL1(dist=40950)	AB231721	ENSG00000254717	Na	Na	Na	Na	Na	Na	Het;T>G	737;20|32	Hom;T>G	3089;0|71
N	N	-	11	58668270	58668270	G	A	snp	intergenic	 	 	 	 	GLYATL1P2																		rs2187268	0.715056	0	0	1	0	0	intergenic	intergenic	intergenic	GLYATL2(dist=56273),GLYATL1(dist=26832)	AB231721(dist=8004),AK294973(dist=4627)	ENSG00000254717(dist=7337),ENSG00000224130(dist=4627)	Na	Na	Na	Na	Na	Na	Het;G>A	128;2|7	Hom;G>A	71;0|4
N	N	-	11	58702678	58702678	G	A	snp	ncRNA_exonic	 	 	 	 	LOC283194																		rs533087	0.406749	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC283194	LOC283194	ENSG00000255240	Na	Na	Na	Na	Na	Na	Het;G>A	1029;49|47	Hom;G>A	3653;2|135
N	N	-	11	59562684	59562684	C	T	snp	intronic	 	 	 	 	STX3	Stx3	ENSG00000166900	syntaxin 3	chr11:59480929-59573354	The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]	Tobacco Use Disorder	 	Other interleukin signaling	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006887;exocytosis;IEA|GO:0006906;vesicle fusion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016081;synaptic vesicle docking;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0031175;neuron projection development;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048278;vesicle docking;IBA|GO:0050921;positive regulation of chemotaxis;IMP|GO:0060291;long-term synaptic potentiation;IEA|GO:0061025;membrane fusion;IEA|GO:0098967;exocytic insertion of neurotransmitter receptor to postsynaptic membrane;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IMP|GO:2000010;positive regulation of protein localization to cell surface;IMP	GO:0005622;intracellular;IEA|GO:0005773;vacuole;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0030141;secretory granule;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0031201;SNARE complex;IEA|GO:0042470;melanosome;IEA|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0042589;zymogen granule membrane;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097470;ribbon synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA|GO:1990796;photoreceptor cell terminal bouton;IEA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0050544;arachidonic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STX3		https://hpo.jax.org/app/browse/search?q=STX3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600876	http://www.informatics.jax.org/searchtool/Search.do?query=STX3&submit=Quick%0D%11900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX3	Na	0	0	0	1	0	0	intronic	intronic	intronic	STX3	STX3	ENSG00000166900	Na	Na	Na	Na	Na	Na	Het;C>T	76;1|3	Hom;C>T	46;0|2
N	N	-	11	59858036	59858036	C	G	snp	intronic	 	 	 	 	MS4A2	Ms4a2	ENSG00000149534	membrane spanning 4-domains A2	chr11:59855734-59863444	The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]	Asthma. rhinitis; Atopic dermatitis; Atopy; Total serum IgE. specific IgE. AR; IgE levels; eczema; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Atopic asthma; IgE, cord blood; Chlamydia Infections|Inflammation|Trachoma; diabetes, type 2; eczema food allergy IgE; immunoglobulin E receptor-mediated histamine release from basophils; Type 2 diabetes; periodontitis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; atherosclerosis; Asthma|; atopy beta-lactam allergy; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Wegener Granulomatosis; Drug Hypersensitivity|Urticaria; urticaria/angioedema; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|Pneumonia; Atopy. BHR; airway hyperresponsiveness atopy; atopy; Asthma. atopy; Childhood atopic asthma; asthma, aspirin-induced; late-onset airflow obstruction; Hodgkin Disease|Inflammation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders(C10.228.140.546.399.750)/genetics; Coronary Artery Disease|Inflammation; Total IgE; Hyperresponsiveness; Brain Ischemia|Inflammation|Stroke; bronchodilator response; Asthma|Eosinophilia; Asthma; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Sounds	Homozygous null mice display decreased susceptibility to passive cutaneous anaphylaxis and abnormal mast cell physiology.	FCERI mediated NF-kB activation	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IMP|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032998;Fc-epsilon receptor I complex;IEA	GO:0019863;IgE binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MS4A2	https://www.uniprot.org/uniprot/Q01362		https://www.ncbi.nlm.nih.gov/omim/?term=147138	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A2&submit=Quick%0D%9247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A2	rs2847663	0.31889	0	0	1	0	0	intronic	intronic	intronic	MS4A2	MS4A2	ENSG00000149534	Na	Na	Na	Na	Na	Na	Het;C>G	606;24|22	Hom;C>G	1995;1|66
N	N	-	11	59860178	59860178	G	T	snp	intronic	 	 	 	 	MS4A2	Ms4a2	ENSG00000149534	membrane spanning 4-domains A2	chr11:59855734-59863444	The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]	Asthma. rhinitis; Atopic dermatitis; Atopy; Total serum IgE. specific IgE. AR; IgE levels; eczema; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Atopic asthma; IgE, cord blood; Chlamydia Infections|Inflammation|Trachoma; diabetes, type 2; eczema food allergy IgE; immunoglobulin E receptor-mediated histamine release from basophils; Type 2 diabetes; periodontitis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; atherosclerosis; Asthma|; atopy beta-lactam allergy; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Wegener Granulomatosis; Drug Hypersensitivity|Urticaria; urticaria/angioedema; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|Pneumonia; Atopy. BHR; airway hyperresponsiveness atopy; atopy; Asthma. atopy; Childhood atopic asthma; asthma, aspirin-induced; late-onset airflow obstruction; Hodgkin Disease|Inflammation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders(C10.228.140.546.399.750)/genetics; Coronary Artery Disease|Inflammation; Total IgE; Hyperresponsiveness; Brain Ischemia|Inflammation|Stroke; bronchodilator response; Asthma|Eosinophilia; Asthma; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Sounds	Homozygous null mice display decreased susceptibility to passive cutaneous anaphylaxis and abnormal mast cell physiology.	FCERI mediated NF-kB activation	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IMP|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032998;Fc-epsilon receptor I complex;IEA	GO:0019863;IgE binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MS4A2	https://www.uniprot.org/uniprot/Q01362		https://www.ncbi.nlm.nih.gov/omim/?term=147138	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A2&submit=Quick%0D%9247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A2	rs502581	0.401757	0	0	1	0	0	intronic	intronic	intronic	MS4A2	MS4A2	ENSG00000149534	Na	Na	Na	Na	Na	Na	Het;G>T	504;13|17	Hom;G>T	714;0|23
N	N	-	11	59900575	59900575	T	C	snp	intergenic	 	 	 	 	MS4A2	Ms4a2	ENSG00000149534	membrane spanning 4-domains A2	chr11:59855734-59863444	The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]	Asthma. rhinitis; Atopic dermatitis; Atopy; Total serum IgE. specific IgE. AR; IgE levels; eczema; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Atopic asthma; IgE, cord blood; Chlamydia Infections|Inflammation|Trachoma; diabetes, type 2; eczema food allergy IgE; immunoglobulin E receptor-mediated histamine release from basophils; Type 2 diabetes; periodontitis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; atherosclerosis; Asthma|; atopy beta-lactam allergy; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Wegener Granulomatosis; Drug Hypersensitivity|Urticaria; urticaria/angioedema; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|Pneumonia; Atopy. BHR; airway hyperresponsiveness atopy; atopy; Asthma. atopy; Childhood atopic asthma; asthma, aspirin-induced; late-onset airflow obstruction; Hodgkin Disease|Inflammation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders(C10.228.140.546.399.750)/genetics; Coronary Artery Disease|Inflammation; Total IgE; Hyperresponsiveness; Brain Ischemia|Inflammation|Stroke; bronchodilator response; Asthma|Eosinophilia; Asthma; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Sounds	Homozygous null mice display decreased susceptibility to passive cutaneous anaphylaxis and abnormal mast cell physiology.	FCERI mediated NF-kB activation	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IMP|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032998;Fc-epsilon receptor I complex;IEA	GO:0019863;IgE binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MS4A2	https://www.uniprot.org/uniprot/Q01362		https://www.ncbi.nlm.nih.gov/omim/?term=147138	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A2&submit=Quick%0D%9247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A2	rs4939314	0.283147	0	0	1	0	0	intergenic	intergenic	intergenic	MS4A2(dist=34635),MS4A6A(dist=38505)	MS4A2(dist=34635),MS4A6A(dist=38505)	ENSG00000149534(dist=37131),ENSG00000254952(dist=26585)	Na	Na	Na	Na	Na	Na	Het;T>C	76;4|3	Hom;T>C	262;0|7
N	N	-	11	59940599	59940599	T	A	snp	nonsynonymous SNV	A553T	T185S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MS4A6A	Ms4a6d	ENSG00000110077	membrane spanning 4-domains A6A	chr11:59939081-59952139	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]	esophageal adenocarcinoma; Magnesium; Alzheimer Disease	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A6A	https://www.uniprot.org/uniprot/Q9H2W1		https://www.ncbi.nlm.nih.gov/omim/?term=606548	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A6A&submit=Quick%0D%3925ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A6A	rs7232	0.214058	0.2777	0.3131	0.17	2	12	exonic	exonic	exonic	MS4A6A	MS4A6A	ENSG00000110077	nonsynonymous SNV	nonsynonymous SNV	unknown	MS4A6A:NM_022349:exon6:c.A553T:p.T185S,MS4A6A:NM_152852:exon7:c.A553T:p.T185S,MS4A6A:NM_001247999:exon7:c.A637T:p.T213S,MS4A6A:NM_152851:exon6:c.A449T:p.N150I,	MS4A6A:uc010rla.2:exon7:c.A637T:p.T213S,MS4A6A:uc009ymv.3:exon7:c.A553T:p.T185S,MS4A6A:uc001not.3:exon6:c.A553T:p.T185S,MS4A6A:uc001noq.3:exon6:c.A449T:p.N150I,MS4A6A:uc010rlb.2:exon5:c.A418T:p.T140S,	UNKNOWN	Het;T>A	1385;48|61	Hom;T>A	2602;0|100
N	N	-	11	59942815	59942815	A	G	snp	intronic	 	 	 	 	MS4A6A	Ms4a6d	ENSG00000110077	membrane spanning 4-domains A6A	chr11:59939081-59952139	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]	esophageal adenocarcinoma; Magnesium; Alzheimer Disease	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A6A	https://www.uniprot.org/uniprot/Q9H2W1		https://www.ncbi.nlm.nih.gov/omim/?term=606548	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A6A&submit=Quick%0D%3925ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A6A	rs7935829	0.315895	0	0	1	0	0	intronic	intronic	intronic	MS4A6A	MS4A6A	ENSG00000110077	Na	Na	Na	Na	Na	Na	Het;A>G	360;12|17	Hom;A>G	770;0|29
N	N	-	11	59943109	59943109	A	T	snp	intronic	 	 	 	 	MS4A6A	Ms4a6d	ENSG00000110077	membrane spanning 4-domains A6A	chr11:59939081-59952139	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]	esophageal adenocarcinoma; Magnesium; Alzheimer Disease	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A6A	https://www.uniprot.org/uniprot/Q9H2W1		https://www.ncbi.nlm.nih.gov/omim/?term=606548	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A6A&submit=Quick%0D%3925ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A6A	rs2278867	0.289736	0.3135	0.3546	1	0	0	intronic	intronic	intronic	MS4A6A	MS4A6A	ENSG00000110077	Na	Na	Na	Na	Na	Na	Het;A>T	788;34|34	Hom;A>T	1646;0|60
N	N	-	11	59945745	59945745	T	C	snp	synonymous SNV	A411G	L137L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MS4A6A	Ms4a6d	ENSG00000110077	membrane spanning 4-domains A6A	chr11:59939081-59952139	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]	esophageal adenocarcinoma; Magnesium; Alzheimer Disease	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A6A	https://www.uniprot.org/uniprot/Q9H2W1		https://www.ncbi.nlm.nih.gov/omim/?term=606548	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A6A&submit=Quick%0D%3925ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A6A	rs12453	0.307308	0.3320	0.3591	1	0	0	exonic	exonic	exonic	MS4A6A	MS4A6A	ENSG00000110077	synonymous SNV	synonymous SNV	unknown	MS4A6A:NM_022349:exon4:c.A327G:p.L109L,MS4A6A:NM_152852:exon5:c.A327G:p.L109L,MS4A6A:NM_001247999:exon5:c.A411G:p.L137L,MS4A6A:NM_152851:exon4:c.A327G:p.L109L,	MS4A6A:uc010rla.2:exon5:c.A411G:p.L137L,MS4A6A:uc009ymv.3:exon5:c.A327G:p.L109L,MS4A6A:uc001not.3:exon4:c.A327G:p.L109L,MS4A6A:uc001noq.3:exon4:c.A327G:p.L109L,MS4A6A:uc010rlb.2:exon3:c.A192G:p.L64L,	UNKNOWN	Het;T>C	554;26|24	Hom;T>C	1608;0|62
N	N	-	11	59976111	59976111	G	A	snp	intronic	 	 	 	 	MS4A4E		ENSG00000214787	membrane spanning 4-domains A4E	chr11:59968726-60010561	Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]	Alzheimer Disease; Cholesterol, LDL; Tobacco Use Disorder				GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A4E			https://www.ncbi.nlm.nih.gov/omim/?term=608401	http://www.informatics.jax.org/searchtool/Search.do?query=MS4A4E&submit=Quick%0D%18277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A4E	rs7932740	0.334465	0	0	1	0	0	intergenic	intergenic	intronic	MS4A6A(dist=23972),MS4A4A(dist=71903)	MS4A6A(dist=23972),AB231731(dist=4451)	ENSG00000214787	Na	Na	Na	Na	Na	Na	Het;G>A	807;27|38	Hom;G>A	2016;2|78
N	N	-	11	60163635	60163635	T	C	snp	UTR5	-19593T>C	 	 	 	MS4A14	Ms4a14	ENSG00000166928	membrane spanning 4-domains A14	chr11:60146003-60185161		monocyte chemoattractant protein 1 (66-77)	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A14				http://www.informatics.jax.org/searchtool/Search.do?query=MS4A14&submit=Quick%0D%11911ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A14	rs3816270	0.790935	0	0	1	0	0	UTR5	UTR5	intronic	MS4A14(NM_032597:c.-417T>C,NM_001261827:c.-417T>C,NM_001079692:c.-417T>C,NM_001261828:c.-417T>C)	MS4A14(uc031qbc.1:c.-19593T>C,uc031qbd.1:c.-417T>C,uc001npl.3:c.-19593T>C,uc001npm.3:c.-19593T>C,uc001npj.3:c.-417T>C,uc031qbe.1:c.-417T>C,uc001npn.3:c.-19593T>C,uc001npk.3:c.-417T>C)	ENSG00000166926,ENSG00000166928	Na	Na	Na	Na	Na	Na	Het;T>C	1877;68|78	Hom;T>C	3459;0|117
N	N	-	11	60173554	60173554	A	G	snp	intronic	 	 	 	 	MS4A14	Ms4a14	ENSG00000166928	membrane spanning 4-domains A14	chr11:60146003-60185161		monocyte chemoattractant protein 1 (66-77)	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A14				http://www.informatics.jax.org/searchtool/Search.do?query=MS4A14&submit=Quick%0D%11911ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A14	rs4939353	0.752396	0	0	1	0	0	intronic	intronic	intronic	MS4A14	MS4A14	ENSG00000166928	Na	Na	Na	Na	Na	Na	Het;A>G	114;4|4	Hom;A>G	179;0|5
N	N	-	11	60182970	60182970	A	T	snp	nonsynonymous SNV	A529T	N177Y	polar,hydrophilic,neutral	aromatic,polar,hydrophobic	MS4A14	Ms4a14	ENSG00000166928	membrane spanning 4-domains A14	chr11:60146003-60185161		monocyte chemoattractant protein 1 (66-77)	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MS4A14				http://www.informatics.jax.org/searchtool/Search.do?query=MS4A14&submit=Quick%0D%11911ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A14	rs7131283	0.577875	0.6403	0.6490	0.42	5	12	exonic	exonic	exonic	MS4A14	MS4A14	ENSG00000166928	nonsynonymous SNV	nonsynonymous SNV	unknown	MS4A14:NM_032597:exon5:c.A529T:p.N177Y,MS4A14:NM_001079692:exon4:c.A478T:p.N160Y,MS4A14:NM_001261828:exon6:c.A628T:p.N210Y,MS4A14:NM_001261827:exon5:c.A577T:p.N193Y,	MS4A14:uc001npi.3:exon3:c.A193T:p.N65Y,MS4A14:uc001npk.3:exon4:c.A478T:p.N160Y,MS4A14:uc031qbd.1:exon6:c.A628T:p.N210Y,MS4A14:uc031qbe.1:exon5:c.A577T:p.N193Y,MS4A14:uc001npj.3:exon5:c.A529T:p.N177Y,	UNKNOWN	Het;A>T	992;56|50	Hom;A>T	2470;0|92
N	N	-	11	60695375	60695375	A	G	snp	intronic	 	 	 	 	TMEM132A	Tmem132a	ENSG00000006118	transmembrane protein 132A	chr11:60691935-60704631	This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]		 	Post-translational protein phosphorylation	GO:0008150;biological_process;ND|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM132A	https://www.uniprot.org/uniprot/Q24JP5		https://www.ncbi.nlm.nih.gov/omim/?term=617363	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132A&submit=Quick%0D%390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132A	rs575955	0.739217	0.6325	0.7182	1	0	0	intronic	intronic	intronic	TMEM132A	TMEM132A	ENSG00000006118	Na	Na	Na	Na	Na	Na	Het;A>G	61;7|3	Hom;A>G	112;0|5
N	N	-	11	60710983	60710983	T	C	snp	intronic	 	 	 	 	SLC15A3	Slc15a3	ENSG00000110446	solute carrier family 15 member 3	chr11:60704556-60720002			The gene is involved in pathogen sensing by dendritic cells. Homozygous KO results in a reduction of the number of these cells displaying tubular endo-lysosomes after LPS treatment.	Proton/oligopeptide cotransporters	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0015031;protein transport;IEA|GO:0015833;peptide transport;IEA|GO:0015992;proton transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015333;peptide:proton symporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC15A3	https://www.uniprot.org/uniprot/Q8IY34		https://www.ncbi.nlm.nih.gov/omim/?term=610408	http://www.informatics.jax.org/searchtool/Search.do?query=SLC15A3&submit=Quick%0D%3963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC15A3	rs542773	0.111422	0	0	1	0	0	intronic	intronic	intronic	SLC15A3	SLC15A3	ENSG00000110446	Na	Na	Na	Na	Na	Na	Het;T>C	39;1|2	Hom;T>C	146;0|5
N	N	-	11	6079001	6079001	G	A	snp	ncRNA_exonic	 	 	 	 	OR52L2P																		rs4448669	0.414337	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR56A1(dist=30030),OR56B4(dist=49913)	OR56A1(dist=30030),OR56B4(dist=50008)	ENSG00000262980	Na	Na	Na	Na	Na	Na	Het;G>A	406;28|20	Hom;G>A	1912;1|71
N	N	-	11	60892606	60892606	A	G	snp	nonsynonymous SNV	A1382G	H461R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CD5	Cd5	ENSG00000110448	CD5 molecule	chr11:60869867-60895324		leukemia; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Multiple Myeloma; benzene haematotoxicity; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome	Homozygous mutation of this gene does not result in a phenotype.		GO:0006898;receptor-mediated endocytosis;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0031295;T cell costimulation;IEA|GO:0097190;apoptotic signaling pathway;IEA	GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CD5	https://www.uniprot.org/uniprot/P06127		https://www.ncbi.nlm.nih.gov/omim/?term=153340	http://www.informatics.jax.org/searchtool/Search.do?query=CD5&submit=Quick%0D%3964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD5	rs637186	0.967851	0.9366	0.9380	0.15	2	13	exonic	exonic	exonic	CD5	CD5	ENSG00000110448	nonsynonymous SNV	nonsynonymous SNV	unknown	CD5:NM_014207:exon9:c.A1382G:p.H461R,	CD5:uc009ynk.3:exon9:c.A1382G:p.H461R,	UNKNOWN	Het;A>G	1413;72|69	Hom;A>G	3256;1|124
N	N	-	11	60899767	60899767	A	G	snp	nonsynonymous SNV	T593C	L198S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	VPS37C	Vps37c	ENSG00000167987	VPS37C, ESCRT-I subunit	chr11:60897728-60929089	VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008]	benzene haematotoxicity; Tobacco Use Disorder	 	Endosomal Sorting Complex Required For Transport (ESCRT)	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;TAS|GO:0075733;intracellular transport of virus;TAS	GO:0000813;ESCRT I complex;TAS|GO:0005768;endosome;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VPS37C			https://www.ncbi.nlm.nih.gov/omim/?term=610038	http://www.informatics.jax.org/searchtool/Search.do?query=VPS37C&submit=Quick%0D%12164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS37C	rs754382	0.853235	0.7287	0.7566	0.08	1	13	exonic	exonic	exonic	VPS37C	VPS37C	ENSG00000167987	nonsynonymous SNV	nonsynonymous SNV	unknown	VPS37C:NM_017966:exon5:c.T593C:p.L198S,	VPS37C:uc001nqv.1:exon5:c.T593C:p.L198S,	UNKNOWN	Het;A>G	1763;74|81	Hom;A>G	4142;0|139
N	N	-	11	61406542	61406542	A	G	snp	ncRNA_exonic	 	 	 	 	RPLP0P2																		rs2453710	0.33107	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	RPLP0P2	RPLP0P2(uc001nrz.1:c.*1434A>G)	ENSG00000243742	Na	Na	Na	Na	Na	Na	Het;A>G	2060;90|100	Hom;A>G	4371;0|154
N	N	-	11	61523300	61523301	GA	G	indel	ncRNA_intronic	 	 	 	 	DKFZP434K028																		rs10709102	0.404952	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	DKFZP434K028	DKFZP434K028,MYRF	ENSG00000124915	Na	Na	Na	Na	Na	Na	Het;-A	103;2|4	Hom;-A	159;0|5
N	N	-	11	61524974	61524974	G	A	snp	nonsynonymous SNV	C83T	P28L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	DKFZP434K028																		rs198460	0.438898	0	0.4826	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	DKFZP434K028	DKFZP434K028	ENSG00000124915	Na	nonsynonymous SNV	Na	Na	DKFZP434K028:uc001nsd.3:exon1:c.C83T:p.P28L,	Na	Het;G>A	895;61|45	Hom;G>A	2240;0|79
N	N	-	11	61624705	61624705	T	C	snp	intronic	 	 	 	 	FADS2	Fads2	ENSG00000134824	fatty acid desaturase 2	chr11:61560452-61634826	The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]	Phospholipids; Coronary Disease|; HDL cholesterol; Triglycerides; Tobacco Use Disorder; Lipoproteins, LDL; Cardiovascular Diseases; polyunsaturated fatty acids; Eczema; ADHD | attention-deficit hyperactivity disorder; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease|Inflammation; Dyslipidemias|Syndrome; attention deficit hyperactivity disorder; Hypertrophy, Left Ventricular; Type 2 diabetes; metabolic syndrome; Depression, Postpartum; Cholesterol; allergic rhinitis dermatitis and eczema fatty acid; Cholesterol, LDL; metabolic traits; Cholesterol, HDL; null; triglycerides; Cholesterol, total; LDL cholesterol; Alkaline Phosphatase	Mice homozygous for a null allele display absence of long-chain polyunsaturated fatty acids, infertility, arrest of spermiogenesis and folliculogenesis, and impaired platelet function.	alpha-linolenic acid (ALA) metabolism	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0043651;linoleic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0004768;stearoyl-CoA 9-desaturase activity;IEA|GO:0016213;linoleoyl-CoA desaturase activity;TAS|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FADS2	https://www.uniprot.org/uniprot/O95864		https://www.ncbi.nlm.nih.gov/omim/?term=606149	http://www.informatics.jax.org/searchtool/Search.do?query=FADS2&submit=Quick%0D%7039ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FADS2	rs498793	0.686901	0	0	1	0	0	intronic	intronic	intronic	FADS2	FADS2	ENSG00000134824	Na	Na	Na	Na	Na	Na	Het;T>C	70;2|3	Hom;T>C	187;0|6
N	N	-	11	61906538	61906538	G	A	snp	intronic	 	 	 	 	INCENP	Incenp	ENSG00000149503	inner centromere protein	chr11:61891445-61920635	In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]		Homozygous mutant embryos die before E8.5.  Embryonic cells exhibit abnormal nuclei and abberent mitosis.	Mitotic Prometaphase	GO:0000910;cytokinesis;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0016925;protein sumoylation;TAS|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000795;synaptonemal complex;IEA|GO:0000800;lateral element;IEA|GO:0000801;central element;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0010369;chromocenter;IEA|GO:0016604;nuclear body;IDA|GO:0030496;midbody;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INCENP	https://www.uniprot.org/uniprot/Q9NQS7		https://www.ncbi.nlm.nih.gov/omim/?term=604411	http://www.informatics.jax.org/searchtool/Search.do?query=INCENP&submit=Quick%0D%9241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INCENP	rs11230922	0.248403	0	0	1	0	0	intronic	intronic	intronic	INCENP	INCENP	ENSG00000149503	Na	Na	Na	Na	Na	Na	Het;G>A	652;17|26	Hom;G>A	1362;0|47
N	N	-	11	61907631	61907631	T	A	snp	intronic	 	 	 	 	INCENP	Incenp	ENSG00000149503	inner centromere protein	chr11:61891445-61920635	In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]		Homozygous mutant embryos die before E8.5.  Embryonic cells exhibit abnormal nuclei and abberent mitosis.	Mitotic Prometaphase	GO:0000910;cytokinesis;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0016925;protein sumoylation;TAS|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000795;synaptonemal complex;IEA|GO:0000800;lateral element;IEA|GO:0000801;central element;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0010369;chromocenter;IEA|GO:0016604;nuclear body;IDA|GO:0030496;midbody;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INCENP	https://www.uniprot.org/uniprot/Q9NQS7		https://www.ncbi.nlm.nih.gov/omim/?term=604411	http://www.informatics.jax.org/searchtool/Search.do?query=INCENP&submit=Quick%0D%9241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INCENP	rs3741246	0.259385	0.1870	0	1	0	0	intronic	intronic	intronic	INCENP	INCENP	ENSG00000149503	Na	Na	Na	Na	Na	Na	Het;T>A	701;22|33	Hom;T>A	1170;0|45
N	N	-	11	61960809	61960809	C	A	snp	intronic	 	 	 	 	SCGB1D1		ENSG00000168515	secretoglobin family 1D member 1	chr11:61957688-61961011	The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]	Macular Degeneration				GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA	GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SCGB1D1			https://www.ncbi.nlm.nih.gov/omim/?term=615060	http://www.informatics.jax.org/searchtool/Search.do?query=SCGB1D1&submit=Quick%0D%12290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCGB1D1	rs7951859	0.634784	0.6343	0	1	0	0	intronic	intronic	intronic	SCGB1D1	SCGB1D1	ENSG00000168515	Na	Na	Na	Na	Na	Na	Het;C>A	171;6|10	Hom;C>A	475;0|17
N	N	-	11	61960827	61960827	T	C	snp	intronic	 	 	 	 	SCGB1D1		ENSG00000168515	secretoglobin family 1D member 1	chr11:61957688-61961011	The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]	Macular Degeneration				GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA	GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SCGB1D1			https://www.ncbi.nlm.nih.gov/omim/?term=615060	http://www.informatics.jax.org/searchtool/Search.do?query=SCGB1D1&submit=Quick%0D%12290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCGB1D1	rs2232941	0.634784	0.6287	0.7185	1	0	0	intronic	intronic	intronic	SCGB1D1	SCGB1D1	ENSG00000168515	Na	Na	Na	Na	Na	Na	Het;T>C	308;7|15	Hom;T>C	816;0|29
N	N	-	11	62098387	62098387	A	C	snp	upstream	 	 	 	 	NPM1P35																		rs2513071	0.870407	0	0	1	0	0	intergenic	intergenic	upstream	SCGB1D4(dist=31851),ASRGL1(dist=6387)	SCGB1D4(dist=31851),ASRGL1(dist=6387)	ENSG00000255213	Na	Na	Na	Na	Na	Na	Het;A>C	538;16|26	Hom;A>C	875;0|30
N	N	-	11	62098735	62098735	T	C	snp	ncRNA_exonic	 	 	 	 	NPM1P35																		rs2513747	0.874201	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SCGB1D4(dist=32199),ASRGL1(dist=6039)	SCGB1D4(dist=32199),ASRGL1(dist=6039)	ENSG00000255213	Na	Na	Na	Na	Na	Na	Het;T>C	645;10|17	Hom;T>C	798;0|23
N	N	-	11	62105391	62105391	C	T	snp	ncRNA_exonic	 	 	 	 	AP003306.2																		rs2513749	0.86861	0	0	1	0	0	UTR5	UTR5	ncRNA_exonic	ASRGL1(NM_001083926:c.-59C>T)	ASRGL1(uc001ntf.4:c.-59C>T)	ENSG00000255118	Na	Na	Na	Na	Na	Na	Het;C>T	52;13|5	Hom;C>T	611;0|22
N	N	-	11	6417004	6417007	CTAG	C	indel	intronic	 	 	 	 	APBB1	Apbb1	ENSG00000166313	amyloid beta precursor protein binding family B member 1	chr11:6416355-6440644	The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]	Alzheimer's Disease; Alzheimer's disease; Tobacco Use Disorder; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a null allele are hypersensitive to ionizing radiation while mouse embryonic fibroblasts are hypersensitive to DNA damaging agents. Homozygotes for a second null allele display impaired performance in learning and memory tasks, with a striking deficit in reversal spatial learning.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0006302;double-strand break repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007050;cell cycle arrest;ISS|GO:0007165;signal transduction;NAS|GO:0007409;axonogenesis;NAS|GO:0010039;response to iron ion;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030308;negative regulation of cell growth;ISS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043967;histone H4 acetylation;ISS|GO:0045739;positive regulation of DNA repair;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050760;negative regulation of thymidylate synthase biosynthetic process;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0030027;lamellipodium;IDA|GO:0030426;growth cone;IDA|GO:0042734;presynaptic membrane;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0043234;protein complex;IEA|GO:0044304;main axon;IEA|GO:0045202;synapse;IDA|GO:0045211;postsynaptic membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1990761;growth cone lamellipodium;IEA|GO:1990812;growth cone filopodium;IEA	GO:0001540;beta-amyloid binding;IPI|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0032403;protein complex binding;IEA|GO:0042393;histone binding;IPI|GO:0048156;tau protein binding;IEA|GO:0070064;proline-rich region binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APBB1			https://www.ncbi.nlm.nih.gov/omim/?term=602709	http://www.informatics.jax.org/searchtool/Search.do?query=APBB1&submit=Quick%0D%11754ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APBB1	rs1799755	0.161542	0.1665	0.1553	1	0	0	intronic	intronic	intronic	APBB1	APBB1	ENSG00000166313	Na	Na	Na	Na	Na	Na	Het;-TAG	5003;119|130	Hom;-TAG	9755;1|220
N	N	-	11	64497189	64497189	A	C	snp	intronic	 	 	 	 	RASGRP2	Rasgrp2	ENSG00000068831	RAS guanyl releasing protein 2	chr11:64494383-64512928	The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	Gout	Mice homozygous for a knock-out allele do not undergo spontaneous hemorrhaging but exhibit impaired platelet aggregation, resistance to collagen-induced thrombosis, and increased bleeding times after tail transection.	Rap1 signalling	GO:0001558;regulation of cell growth;NAS|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0071277;cellular response to calcium ion;IDA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005509;calcium ion binding;NAS|GO:0008289;lipid binding;TAS|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASGRP2	https://www.uniprot.org/uniprot/Q7LDG7	https://hpo.jax.org/app/browse/search?q=RASGRP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605577	http://www.informatics.jax.org/searchtool/Search.do?query=RASGRP2&submit=Quick%0D%1298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRP2	rs533515	0.00239617	0.7659	0.7763	1	0	0	intronic	intronic	intronic	RASGRP2	RASGRP2	ENSG00000068831	Na	Na	Na	Na	Na	Na	Het;A>C	282;13|16	Hom;A>C	791;0|28
N	N	-	11	64597506	64597506	T	C	snp	nonsynonymous SNV	A3404G	Q1135R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	CDC42BPG	Cdc42bpg	ENSG00000171219	CDC42 binding protein kinase gamma	chr11:64590859-64612041		Pancreatic Neoplasms; Leprosy	 		GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0031532;actin cytoskeleton reorganization;ISS|GO:0035556;intracellular signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;IDA|GO:0031252;cell leading edge;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDC42BPG			https://www.ncbi.nlm.nih.gov/omim/?term=613991	http://www.informatics.jax.org/searchtool/Search.do?query=CDC42BPG&submit=Quick%0D%12881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC42BPG	rs3741395	0.316494	0.5069	0.4735	0.15	2	13	exonic	exonic	exonic	CDC42BPG	CDC42BPG	ENSG00000171219	nonsynonymous SNV	nonsynonymous SNV	unknown	CDC42BPG:NM_017525:exon30:c.A3404G:p.Q1135R,	CDC42BPG:uc001obs.4:exon30:c.A3404G:p.Q1135R,	UNKNOWN	Het;T>C	963;75|49	Hom;T>C	2888;2|107
N	N	-	11	64622869	64622869	G	C	snp	synonymous SNV	C1005G	L335L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EHD1	Ehd1	ENSG00000110047	EH domain containing 1	chr11:64619114-64655768	This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts.	Factors involved in megakaryocyte development and platelet production	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0006897;endocytosis;IMP|GO:0007596;blood coagulation;TAS|GO:0010886;positive regulation of cholesterol storage;ISS|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;IEA|GO:0030030;cell projection organization;IEA|GO:0031175;neuron projection development;ISS|GO:0032456;endocytic recycling;IGI|GO:0034383;low-density lipoprotein particle clearance;ISS|GO:0042632;cholesterol homeostasis;ISS|GO:0051260;protein homooligomerization;IPI|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:1901741;positive regulation of myoblast fusion;ISS|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2001137;positive regulation of endocytic recycling;ISS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005811;lipid particle;ISS|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0020018;ciliary pocket membrane;IDA|GO:0030139;endocytic vesicle;IEA|GO:0031095;platelet dense tubular network membrane;ISS|GO:0031901;early endosome membrane;IDA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0060170;ciliary membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EHD1	https://www.uniprot.org/uniprot/Q9H4M9		https://www.ncbi.nlm.nih.gov/omim/?term=605888	http://www.informatics.jax.org/searchtool/Search.do?query=EHD1&submit=Quick%0D%3916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD1	rs10897533	0.696086	0.7795	0.8206	1	0	0	exonic	exonic	exonic	EHD1	EHD1	ENSG00000110047	synonymous SNV	synonymous SNV	unknown	EHD1:NM_001282444:exon6:c.C1005G:p.L335L,EHD1:NM_001282445:exon5:c.C1047G:p.L349L,EHD1:NM_006795:exon4:c.C1005G:p.L335L,	EHD1:uc001obv.1:exon6:c.C1005G:p.L335L,EHD1:uc021qkz.1:exon1:c.C54G:p.L18L,EHD1:uc001obu.1:exon4:c.C1005G:p.L335L,EHD1:uc010rnq.1:exon5:c.C1047G:p.L349L,	UNKNOWN	Het;G>C	722;35|32	Hom;G>C	2623;2|92
N	N	-	11	64645871	64645871	A	G	snp	synonymous SNV	T66C	A22A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EHD1	Ehd1	ENSG00000110047	EH domain containing 1	chr11:64619114-64655768	This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts.	Factors involved in megakaryocyte development and platelet production	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0006897;endocytosis;IMP|GO:0007596;blood coagulation;TAS|GO:0010886;positive regulation of cholesterol storage;ISS|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;IEA|GO:0030030;cell projection organization;IEA|GO:0031175;neuron projection development;ISS|GO:0032456;endocytic recycling;IGI|GO:0034383;low-density lipoprotein particle clearance;ISS|GO:0042632;cholesterol homeostasis;ISS|GO:0051260;protein homooligomerization;IPI|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:1901741;positive regulation of myoblast fusion;ISS|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2001137;positive regulation of endocytic recycling;ISS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005811;lipid particle;ISS|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0020018;ciliary pocket membrane;IDA|GO:0030139;endocytic vesicle;IEA|GO:0031095;platelet dense tubular network membrane;ISS|GO:0031901;early endosome membrane;IDA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0060170;ciliary membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EHD1	https://www.uniprot.org/uniprot/Q9H4M9		https://www.ncbi.nlm.nih.gov/omim/?term=605888	http://www.informatics.jax.org/searchtool/Search.do?query=EHD1&submit=Quick%0D%3916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD1	rs1211284	0.64976	0.7341	0.8085	1	0	0	exonic	exonic	exonic	EHD1	EHD1	ENSG00000110047	synonymous SNV	synonymous SNV	unknown	EHD1:NM_001282444:exon3:c.T66C:p.A22A,EHD1:NM_001282445:exon2:c.T108C:p.A36A,EHD1:NM_006795:exon1:c.T66C:p.A22A,	EHD1:uc001obv.1:exon3:c.T66C:p.A22A,EHD1:uc001obu.1:exon1:c.T66C:p.A22A,EHD1:uc010rnq.1:exon2:c.T108C:p.A36A,	UNKNOWN	Het;A>G	877;67|43	Hom;A>G	2742;0|101
N	N	-	11	64656357	64656357	G	A	snp	UTR3	*268C>T	 	 	 	AB429224																		rs656982	0.652756	0	0	1	0	0	intergenic	UTR3	upstream;downstream	EHD1(dist=9172),MIR192(dist=2252)	AB429224(uc009ypx.3:c.*268C>T)	ENSG00000110047;ENSG00000203400	Na	Na	Na	Na	Na	Na	Het;G>A	1977;74|94	Hom;G>A	3768;0|139
N	N	-	11	64680819	64680819	G	A	snp	synonymous SNV	C645T	D215D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ATG2A	Atg2a	ENSG00000110046	autophagy related 2A	chr11:64662007-64684722		Tobacco Use Disorder	 		GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA	GO:0000407;pre-autophagosomal structure;IBA|GO:0005634;nucleus;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATG2A	https://www.uniprot.org/uniprot/Q2TAZ0		https://www.ncbi.nlm.nih.gov/omim/?term=616225	http://www.informatics.jax.org/searchtool/Search.do?query=ATG2A&submit=Quick%0D%3915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2A	rs618006	0.551717	0.6392	0.6743	1	0	0	exonic	exonic	exonic	ATG2A	ATG2A	ENSG00000110046	synonymous SNV	synonymous SNV	unknown	ATG2A:NM_015104:exon5:c.C645T:p.D215D,	ATG2A:uc001obx.3:exon5:c.C645T:p.D215D,	UNKNOWN	Het;G>A	774;28|35	Hom;G>A	1610;0|62
N	N	-	11	64684283	64684283	C	T	snp	intronic	 	 	 	 	ATG2A	Atg2a	ENSG00000110046	autophagy related 2A	chr11:64662007-64684722		Tobacco Use Disorder	 		GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA	GO:0000407;pre-autophagosomal structure;IBA|GO:0005634;nucleus;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATG2A	https://www.uniprot.org/uniprot/Q2TAZ0		https://www.ncbi.nlm.nih.gov/omim/?term=616225	http://www.informatics.jax.org/searchtool/Search.do?query=ATG2A&submit=Quick%0D%3915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2A	rs643949	0.90635	0	0	1	0	0	intronic	intronic	intronic	ATG2A	ATG2A	ENSG00000110046	Na	Na	Na	Na	Na	Na	Het;C>T	80;3|3	Hom;C>T	151;0|4
N	N	-	11	64684305	64684305	T	TG	indel	intronic	 	 	 	 	ATG2A	Atg2a	ENSG00000110046	autophagy related 2A	chr11:64662007-64684722		Tobacco Use Disorder	 		GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA	GO:0000407;pre-autophagosomal structure;IBA|GO:0005634;nucleus;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATG2A	https://www.uniprot.org/uniprot/Q2TAZ0		https://www.ncbi.nlm.nih.gov/omim/?term=616225	http://www.informatics.jax.org/searchtool/Search.do?query=ATG2A&submit=Quick%0D%3915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2A	rs3214095	0.566494	0	0	1	0	0	intronic	intronic	intronic	ATG2A	ATG2A	ENSG00000110046	Na	Na	Na	Na	Na	Na	Het;+G	91;7|4	Hom;+G	214;0|6
N	N	-	11	64707978	64707978	A	G	snp	intronic	 	 	 	 	C11orf85	1700123I01Rik																	rs586616	0.302716	0	0	1	0	0	intronic	intronic	intronic	C11orf85	C11orf85	ENSG00000168070	Na	Na	Na	Na	Na	Na	Het;A>G	61;3|3	Hom;A>G	156;0|6
N	N	-	11	64718050	64718054	TTTTC	T	indel	intronic	 	 	 	 	C11orf85	1700123I01Rik																	rs138174447	0	0	0	1	0	0	intronic	intronic	intronic	C11orf85	C11orf85	ENSG00000168070	Na	Na	Na	Na	Na	Na	Het;-TTTC	116;5|4	Hom;-TTTC	188;0|5
N	N	-	11	64726701	64726701	A	C	snp	intronic	 	 	 	 	C11orf85	1700123I01Rik																	rs602404	0.301518	0	0	1	0	0	intronic	intronic	intronic	C11orf85	C11orf85	ENSG00000168070	Na	Na	Na	Na	Na	Na	Het;A>C	240;10|10	Hom;A>C	672;0|22
N	N	-	11	6500710	6500710	A	G	snp	UTR3	*415T>C	 	 	 	ARFIP2	Arfip2	ENSG00000132254	ADP ribosylation factor interacting protein 2	chr11:6496910-6502666			 	Retrograde transport at the Trans-Golgi-Network	GO:0006928;movement of cell or subcellular component;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0030032;lamellipodium assembly;TAS|GO:0030036;actin cytoskeleton organization;IMP|GO:0031529;ruffle organization;TAS|GO:0034315;regulation of Arp2/3 complex-mediated actin nucleation;IBA	GO:0001726;ruffle;IMP|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0032588;trans-Golgi network membrane;IDA	GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0019904;protein domain specific binding;IEA|GO:0030742;GTP-dependent protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0048365;Rac GTPase binding;TAS|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARFIP2	https://www.uniprot.org/uniprot/P53365		https://www.ncbi.nlm.nih.gov/omim/?term=601638	http://www.informatics.jax.org/searchtool/Search.do?query=ARFIP2&submit=Quick%0D%6638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARFIP2	rs2344830	0.234824	0	0	1	0	0	intronic	UTR3	intronic	ARFIP2	ARFIP2(uc009yfe.2:c.*415T>C)	ENSG00000132254	Na	Na	Na	Na	Na	Na	Het;A>G	64;4|3	Hom;A>G	189;0|7
N	N	-	11	6503127	6503127	G	A	snp	intronic	 	 	 	 	TIMM10B	Timm10b	ENSG00000132286	translocase of inner mitochondrial membrane 10B	chr11:6502715-6530208	FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial protein import	GO:0006626;protein targeting to mitochondrion;TAS|GO:0006810;transport;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0015031;protein transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005758;mitochondrial intermembrane space;TAS|GO:0016020;membrane;IEA|GO:0042719;mitochondrial intermembrane space protein transporter complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMM10B	https://www.uniprot.org/uniprot/Q9Y5J6		https://www.ncbi.nlm.nih.gov/omim/?term=607388	http://www.informatics.jax.org/searchtool/Search.do?query=TIMM10B&submit=Quick%0D%6643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM10B	rs2303492	0.226038	0.2764	0.3003	1	0	0	intronic	intronic	intronic	TIMM10B	TIMM10B	ENSG00000132286,ENSG00000265264	Na	Na	Na	Na	Na	Na	Het;G>A	861;20|37	Hom;G>A	1512;1|52
N	N	-	11	65146734	65146734	C	G	snp	intronic	 	 	 	 	SLC25A45	Slc25a45	ENSG00000162241	solute carrier family 25 member 45	chr11:65142663-65151172	SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]		 		GO:0006810;transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0022857;transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A45			https://www.ncbi.nlm.nih.gov/omim/?term=610825	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A45&submit=Quick%0D%10669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A45	rs2073799	0.525559	0	0	1	0	0	intronic	intronic	intronic	SLC25A45	SLC25A45	ENSG00000162241	Na	Na	Na	Na	Na	Na	Het;C>G	33;5|3	Hom;C>G	185;0|6
N	N	-	11	65164357	65164357	C	T	snp	synonymous SNV	C567T	A189A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FRMD8	Frmd8	ENSG00000126391	FERM domain containing 8	chr11:65154070-65180996			Mice homozygous for a knock-out allele are viable and fertile.			GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRMD8	https://www.uniprot.org/uniprot/Q9BZ67			http://www.informatics.jax.org/searchtool/Search.do?query=FRMD8&submit=Quick%0D%5936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD8	rs12417665	0.142772	0.1435	0.2491	1	0	0	exonic	exonic	exonic	FRMD8	FRMD8	ENSG00000126391	synonymous SNV	synonymous SNV	unknown	FRMD8:NM_001300833:exon6:c.C567T:p.A189A,FRMD8:NM_001300832:exon6:c.C501T:p.A167A,FRMD8:NM_031904:exon7:c.C669T:p.A223A,	FRMD8:uc010rof.2:exon6:c.C567T:p.A189A,FRMD8:uc001odu.4:exon7:c.C669T:p.A223A,FRMD8:uc009yqj.3:exon6:c.C501T:p.A167A,	UNKNOWN	Het;C>T	556;34|27	Hom;C>T	1946;0|72
N	N	-	11	6519642	6519642	G	A	snp	nonsynonymous SNV	G197A	R66Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs11604149	0.380591	0.4641	0.4614	0.08	1	13	exonic	exonic	exonic	DNHD1	DNHD1	ENSG00000179532	nonsynonymous SNV	nonsynonymous SNV	unknown	DNHD1:NM_144666:exon3:c.G197A:p.R66Q,DNHD1:NM_173589:exon2:c.G197A:p.R66Q,	DNHD1:uc001mdw.4:exon3:c.G197A:p.R66Q,DNHD1:uc001mdp.3:exon2:c.G197A:p.R66Q,	UNKNOWN	Het;G>A	967;47|45	Hom;G>A	2116;0|77
N	N	-	11	6520015	6520015	G	T	snp	synonymous SNV	G570T	L190L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs11040899	0.377396	0.4633	0.4607	1	0	0	exonic	exonic	exonic	DNHD1	DNHD1	ENSG00000179532	synonymous SNV	synonymous SNV	unknown	DNHD1:NM_144666:exon3:c.G570T:p.L190L,DNHD1:NM_173589:exon2:c.G570T:p.L190L,	DNHD1:uc001mdw.4:exon3:c.G570T:p.L190L,DNHD1:uc001mdp.3:exon2:c.G570T:p.L190L,	UNKNOWN	Het;G>T	1100;71|52	Hom;G>T	3425;3|130
N	N	-	11	65211979	65211979	G	A	snp	ncRNA_exonic	 	 	 	 	MIR612																		rs12803915	0.138179	0.1776	0.2555	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR612,NEAT1	NEAT1	ENSG00000245532	Na	Na	Na	Na	Na	Na	Het;G>A	1646;51|74	Hom;G>A	3415;2|127
N	N	-	11	65212122	65212122	C	T	snp	ncRNA_exonic	 	 	 	 	NEAT1																		rs3825071	0.214856	0	0	1	0	0	ncRNA_exonic	upstream;downstream	ncRNA_exonic	NEAT1	MascRNA_menRNA;NEAT1	ENSG00000245532	Na	Na	Na	Na	Na	Na	Het;C>T	1373;66|63	Hom;C>T	3237;0|111
N	N	-	11	65212447	65212447	A	G	snp	ncRNA_exonic	 	 	 	 	NEAT1																		rs1075692	0.134185	0	0	1	0	0	ncRNA_exonic	upstream;downstream	ncRNA_exonic	NEAT1	MascRNA_menRNA;NEAT1	ENSG00000245532	Na	Na	Na	Na	Na	Na	Het;A>G	1412;73|64	Hom;A>G	4477;0|158
N	N	-	11	6524240	6524240	C	T	snp	intronic	 	 	 	 	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs11040900	0.220847	0	0	1	0	0	intronic	intronic	intronic	DNHD1	DNHD1	ENSG00000179532,ENSG00000265264	Na	Na	Na	Na	Na	Na	Het;C>T	244;11|12	Hom;C>T	604;0|23
N	N	-	11	65273568	65273569	TA	T	indel	ncRNA_exonic	 	 	 	 	MALAT1																		rs11367099	0.241613	0	0.4380	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	MALAT1	MALAT1(uc010roh.3:c.*7628_*7629delinsT)	ENSG00000251562	Na	Na	Na	Na	Na	Na	Het;-A	240;26|21	Hom;-A	821;5|43
N	N	-	11	6530278	6530278	C	T	snp	synonymous SNV	C1089T	F363F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs10839568	0.219249	0.2743	0.2925	1	0	0	exonic	exonic	exonic	DNHD1	DNHD1	ENSG00000179532	synonymous SNV	synonymous SNV	unknown	DNHD1:NM_144666:exon5:c.C1089T:p.F363F,DNHD1:NM_173589:exon4:c.C1089T:p.F363F,	DNHD1:uc001mdw.4:exon5:c.C1089T:p.F363F,DNHD1:uc001mdq.3:exon1:c.C156T:p.F52F,DNHD1:uc001mdp.3:exon4:c.C1089T:p.F363F,	UNKNOWN	Het;C>T	2421;108|114	Hom;C>T	6164;1|228
N	N	-	11	6532519	6532519	C	T	snp	nonsynonymous SNV	C1252T	H418Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs4758423	0.220447	0.2744	0.2929	0.23	3	13	exonic	exonic	exonic	DNHD1	DNHD1	ENSG00000179532	nonsynonymous SNV	nonsynonymous SNV	unknown	DNHD1:NM_144666:exon7:c.C1252T:p.H418Y,DNHD1:NM_173589:exon6:c.C1252T:p.H418Y,	DNHD1:uc001mdw.4:exon7:c.C1252T:p.H418Y,DNHD1:uc001mdq.3:exon3:c.C319T:p.H107Y,DNHD1:uc001mdp.3:exon6:c.C1252T:p.H418Y,	UNKNOWN	Het;C>T	1151;54|56	Hom;C>T	3163;0|114
N	N	-	11	65561468	65561468	C	T	snp	UTR5	-120C>T	 	 	 	OVOL1	Ovol1	ENSG00000172818	ovo like transcriptional repressor 1	chr11:65554493-65564690	This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]	Dermatitis, Atopic; Tobacco Use Disorder; Neuroblastoma	Null mutant homozygotes show reduced growth, abnormal hair, and cystic kidneys. Females are subfertile with dilated uterus and cervix, and constricted or imperforate vagina. Mutant males have small testes, with few mature germ cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001822;kidney development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007498;mesoderm development;IEA|GO:0008544;epidermis development;IEA|GO:0043588;skin development;IEA|GO:0051729;germline cell cycle switching, mitotic to meiotic cell cycle;IEA|GO:1901994;negative regulation of meiotic cell cycle phase transition;IEA|GO:2000647;negative regulation of stem cell proliferation;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OVOL1			https://www.ncbi.nlm.nih.gov/omim/?term=602313	http://www.informatics.jax.org/searchtool/Search.do?query=OVOL1&submit=Quick%0D%13239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OVOL1	rs644740	0.449281	0.4087	0.4705	1	0	0	intronic	UTR5	UTR5	OVOL1	OVOL1(uc001ofq.3:c.-120C>T)	ENSG00000172818(ENST00000532448:c.-120C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	281;11|12	Hom;C>T	888;0|26
N	N	-	11	65566719	65566719	T	G	snp	intergenic	 	 	 	 	OVOL1	Ovol1	ENSG00000172818	ovo like transcriptional repressor 1	chr11:65554493-65564690	This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]	Dermatitis, Atopic; Tobacco Use Disorder; Neuroblastoma	Null mutant homozygotes show reduced growth, abnormal hair, and cystic kidneys. Females are subfertile with dilated uterus and cervix, and constricted or imperforate vagina. Mutant males have small testes, with few mature germ cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001822;kidney development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007498;mesoderm development;IEA|GO:0008544;epidermis development;IEA|GO:0043588;skin development;IEA|GO:0051729;germline cell cycle switching, mitotic to meiotic cell cycle;IEA|GO:1901994;negative regulation of meiotic cell cycle phase transition;IEA|GO:2000647;negative regulation of stem cell proliferation;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OVOL1			https://www.ncbi.nlm.nih.gov/omim/?term=602313	http://www.informatics.jax.org/searchtool/Search.do?query=OVOL1&submit=Quick%0D%13239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OVOL1	rs557675	0.448283	0	0	1	0	0	intergenic	intergenic	intergenic	OVOL1(dist=2029),SNX32(dist=34691)	OVOL1(dist=2029),SNX32(dist=34691)	ENSG00000172818(dist=2029),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>G	44;2|2	Hom;T>G	89;0|3
N	N	-	11	65637273	65637273	A	G	snp	intronic	 	 	 	 	EFEMP2	Efemp2	ENSG00000172638	EGF containing fibulin like extracellular matrix protein 2	chr11:65633912-65641063	A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]	Dengue Hemorrhagic Fever	Homozygous mutation of this gene results in perinatal lethality with abnormal artery and lung morphology and defects in vascular, pulmonary, and hypodermal elastic fibers. Some alleles of Mus81 also affect expression of this gene.	Molecules associated with elastic fibres		GO:0005576;extracellular region;TAS|GO:0005604;basement membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EFEMP2		https://hpo.jax.org/app/browse/search?q=EFEMP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604633	http://www.informatics.jax.org/searchtool/Search.do?query=EFEMP2&submit=Quick%0D%13200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFEMP2	rs501630	0.415735	0	0	1	0	0	intronic	intronic	intronic	EFEMP2	EFEMP2	ENSG00000172638	Na	Na	Na	Na	Na	Na	Het;A>G	1025;35|50	Hom;A>G	2911;0|107
N	N	-	11	65639374	65639374	C	T	snp	intronic	 	 	 	 	EFEMP2	Efemp2	ENSG00000172638	EGF containing fibulin like extracellular matrix protein 2	chr11:65633912-65641063	A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]	Dengue Hemorrhagic Fever	Homozygous mutation of this gene results in perinatal lethality with abnormal artery and lung morphology and defects in vascular, pulmonary, and hypodermal elastic fibers. Some alleles of Mus81 also affect expression of this gene.	Molecules associated with elastic fibres		GO:0005576;extracellular region;TAS|GO:0005604;basement membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EFEMP2		https://hpo.jax.org/app/browse/search?q=EFEMP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604633	http://www.informatics.jax.org/searchtool/Search.do?query=EFEMP2&submit=Quick%0D%13200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFEMP2	rs2234458	0.565296	0.5644	0	1	0	0	intronic	intronic	intronic	EFEMP2	EFEMP2	ENSG00000172638	Na	Na	Na	Na	Na	Na	Het;C>T	404;4|18	Hom;C>T	907;0|34
N	N	-	11	6585007	6585007	G	A	snp	nonsynonymous SNV	G9937A	D3313N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs11040923	0.435703	0.3822	0.4973	0.08	1	12	exonic	exonic	exonic	DNHD1	DNHD1	ENSG00000179532	nonsynonymous SNV	nonsynonymous SNV	unknown	DNHD1:NM_144666:exon31:c.G9937A:p.D3313N,	DNHD1:uc001mdw.4:exon31:c.G9937A:p.D3313N,	UNKNOWN	Het;G>A	638;33|32	Hom;G>A	1667;0|57
N	N	-	11	6585502	6585502	T	C	snp	intronic	 	 	 	 	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs7107072	0.733427	0	0	1	0	0	intronic	intronic	intronic	DNHD1	DNHD1	ENSG00000179532	Na	Na	Na	Na	Na	Na	Het;T>C	331;9|12	Hom;T>C	569;0|19
N	N	-	11	6591157	6591157	A	G	snp	intronic	 	 	 	 	DNHD1	Dnhd1	ENSG00000179532	dynein heavy chain domain 1	chr11:6518490-6614988		Tobacco Use Disorder	 		GO:0007018;microtubule-based movement;IEA	GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003777;microtubule motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNHD1			https://www.ncbi.nlm.nih.gov/omim/?term=617277	http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1	rs10839585	0.466653	0	0	1	0	0	intronic	intronic	intronic	DNHD1	DNHD1	ENSG00000179532	Na	Na	Na	Na	Na	Na	Het;A>G	74;5|4	Hom;A>G	471;0|15
N	N	-	11	66043253	66043253	T	C	snp	ncRNA_intronic	 	 	 	 	AK125412																		rs55931871	0.263379	0.2130	0.3802	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	RAB1B	AK125412	ENSG00000245156	Na	Na	Na	Na	Na	Na	Het;T>C	301;17|16	Hom;T>C	920;0|30
N	N	-	11	6622714	6622714	G	A	snp	synonymous SNV	C582T	N194N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RRP8	Rrp8	ENSG00000132275	ribosomal RNA processing 8	chr11:6616305-6624850			 	SIRT1 negatively regulates rRNA Expression	GO:0000183;chromatin silencing at rDNA;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0042149;cellular response to glucose starvation;IMP|GO:0046015;regulation of transcription by glucose;IMP|GO:0071158;positive regulation of cell cycle arrest;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005677;chromatin silencing complex;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0033553;rDNA heterochromatin;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008757;S-adenosylmethionine-dependent methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP8	https://www.uniprot.org/uniprot/O43159		https://www.ncbi.nlm.nih.gov/omim/?term=615818	http://www.informatics.jax.org/searchtool/Search.do?query=RRP8&submit=Quick%0D%6642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP8	rs2288283	0.739018	0.7294	0.8197	1	0	0	exonic	exonic	exonic	RRP8	RRP8	ENSG00000132275	synonymous SNV	synonymous SNV	unknown	RRP8:NM_015324:exon3:c.C582T:p.N194N,	RRP8:uc001med.3:exon3:c.C582T:p.N194N,	UNKNOWN	Het;G>A	891;58|47	Hom;G>A	2420;0|92
N	N	-	11	6622857	6622857	G	A	snp	intronic	 	 	 	 	RRP8	Rrp8	ENSG00000132275	ribosomal RNA processing 8	chr11:6616305-6624850			 	SIRT1 negatively regulates rRNA Expression	GO:0000183;chromatin silencing at rDNA;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0042149;cellular response to glucose starvation;IMP|GO:0046015;regulation of transcription by glucose;IMP|GO:0071158;positive regulation of cell cycle arrest;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005677;chromatin silencing complex;IDA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0033553;rDNA heterochromatin;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008757;S-adenosylmethionine-dependent methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP8	https://www.uniprot.org/uniprot/O43159		https://www.ncbi.nlm.nih.gov/omim/?term=615818	http://www.informatics.jax.org/searchtool/Search.do?query=RRP8&submit=Quick%0D%6642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP8	rs11826421	0.437899	0.3870	0.4924	1	0	0	intronic	intronic	intronic	RRP8	RRP8	ENSG00000132275	Na	Na	Na	Na	Na	Na	Het;G>A	470;24|23	Hom;G>A	1519;0|56
N	N	-	11	66247696	66247696	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101928069																		rs2279863	0.392372	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LOC101928069	DPP3(uc001oig.2:c.-1976G>T,uc001oif.2:c.-1976G>T,uc010rpe.2:c.-1976G>T)	ENSG00000255517	Na	Na	Na	Na	Na	Na	Het;G>T	290;7|12	Hom;G>T	848;0|27
N	N	-	11	66258916	66258916	G	A	snp	intronic	 	 	 	 	DPP3	Dpp3	ENSG00000254986	dipeptidyl peptidase 3	chr11:66247484-66277130	This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012]		 		GO:0006508;proteolysis;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;IDA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DPP3			https://www.ncbi.nlm.nih.gov/omim/?term=606818	http://www.informatics.jax.org/searchtool/Search.do?query=DPP3&submit=Quick%0D%20097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP3	rs1700189	0.386781	0.3217	0.4379	1	0	0	intronic	intronic	intronic	DPP3	DPP3	ENSG00000254986	Na	Na	Na	Na	Na	Na	Het;G>A	643;23|30	Hom;G>A	1042;0|39
N	N	-	11	66300463	66300463	G	A	snp	UTR3	*2652G>A	 	 	 	BBS1	Bbs1	ENSG00000174483	Bardet-Biedl syndrome 1	chr11:66278077-66301098	Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]	obesity; Retinal Diseases; adiposity	Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons.	BBSome-mediated cargo-targeting to cilium	GO:0001895;retina homeostasis;IMP|GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:1905515;non-motile cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IBA|GO:0016020;membrane;IEA|GO:0034464;BBSome;IDA|GO:0036064;ciliary basal body;IBA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0005113;patched binding;IPI|GO:0005119;smoothened binding;IPI|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BBS1		https://hpo.jax.org/app/browse/search?q=BBS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=209901	http://www.informatics.jax.org/searchtool/Search.do?query=BBS1&submit=Quick%0D%13531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS1	rs1791686	0.384585	0	0	1	0	0	UTR3	UTR3	UTR3	BBS1(NM_024649:c.*955G>A)	BBS1(uc001oii.1:c.*955G>A,uc001oil.1:c.*1217G>A,uc010rpg.1:c.*955G>A,uc001oij.1:c.*955G>A,uc001oik.1:c.*1217G>A)	ENSG00000174483(ENST00000526760:c.*2652G>A,ENST00000318312:c.*955G>A),ENSG00000256349(ENST00000419755:c.*955G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	400;33|22	Hom;G>A	1323;1|50
N	N	-	11	66358126	66358126	C	T	snp	synonymous SNV	G2361A	L787L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCDC87	Ccdc87	ENSG00000182791	coiled-coil domain containing 87	chr11:66357640-66360554			Mice homozygous for a knock-out allele exhibit male subfertility or infertility associated with severe sperm head defects, decreased initial sperm motility, impaired acrosome reaction, and loss of fertilizing capacity.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC87				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC87&submit=Quick%0D%14856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC87	rs486584	0.425519	0.4145	0.5128	1	0	0	exonic	exonic	exonic	CCDC87	CCDC87	ENSG00000182791	synonymous SNV	synonymous SNV	unknown	CCDC87:NM_018219:exon1:c.G2361A:p.L787L,	CCDC87:uc001oiq.4:exon1:c.G2361A:p.L787L,	UNKNOWN	Het;C>T	1323;64|61	Hom;C>T	3127;0|117
N	N	-	11	66456387	66456387	T	C	snp	intronic	 	 	 	 	SPTBN2	Sptbn2	ENSG00000173898	spectrin beta, non-erythrocytic 2	chr11:66452719-66496697	Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]	Spinocerebellar Ataxias	Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;IEA|GO:0016192;vesicle-mediated transport;IDA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021692;cerebellar Purkinje cell layer morphogenesis;IEA|GO:0030534;adult behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IDA|GO:0043025;neuronal cell body;IEA	GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005543;phospholipid binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN2		https://hpo.jax.org/app/browse/search?q=SPTBN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604985	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN2&submit=Quick%0D%13442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN2	rs2276138	0.429513	0	0	1	0	0	intronic	intronic	intronic	SPTBN2	SPTBN2	ENSG00000173898	Na	Na	Na	Na	Na	Na	Het;T>C	193;17|9	Hom;T>C	734;0|23
N	N	-	11	66458696	66458696	C	T	snp	intronic	 	 	 	 	SPTBN2	Sptbn2	ENSG00000173898	spectrin beta, non-erythrocytic 2	chr11:66452719-66496697	Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]	Spinocerebellar Ataxias	Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;IEA|GO:0016192;vesicle-mediated transport;IDA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021692;cerebellar Purkinje cell layer morphogenesis;IEA|GO:0030534;adult behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IDA|GO:0043025;neuronal cell body;IEA	GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005543;phospholipid binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN2		https://hpo.jax.org/app/browse/search?q=SPTBN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604985	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN2&submit=Quick%0D%13442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN2	rs12804382	0.422324	0	0	1	0	0	intronic	intronic	intronic	SPTBN2	SPTBN2	ENSG00000173898	Na	Na	Na	Na	Na	Na	Het;C>T	62;6|3	Hom;C>T	425;0|16
N	N	-	11	66483265	66483265	A	G	snp	intronic	 	 	 	 	SPTBN2	Sptbn2	ENSG00000173898	spectrin beta, non-erythrocytic 2	chr11:66452719-66496697	Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]	Spinocerebellar Ataxias	Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;IEA|GO:0016192;vesicle-mediated transport;IDA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021692;cerebellar Purkinje cell layer morphogenesis;IEA|GO:0030534;adult behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IDA|GO:0043025;neuronal cell body;IEA	GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005543;phospholipid binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN2		https://hpo.jax.org/app/browse/search?q=SPTBN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604985	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN2&submit=Quick%0D%13442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN2	rs12805133	0.441693	0.4059	0.4811	1	0	0	intronic	intronic	intronic	SPTBN2	SPTBN2	ENSG00000173898	Na	Na	Na	Na	Na	Na	Het;A>G	643;65|35	Hom;A>G	2554;2|94
N	N	-	11	66512290	66512290	G	GGGC	indel	nonframeshift substitution	77_77delinsGGGC	 	 	 	C11orf80	Gm960	ENSG00000173715	chromosome 11 open reading frame 80	chr11:66511922-66610987		Bipolar Disorder	Mice homozygous for a knock-out allele exhibit impaired double-strand break formation that imapires female and male meiosis and results in no spermatids and reduced primary and primordial follicle numbers.		GO:0007131;reciprocal meiotic recombination;ISS|GO:0042138;meiotic DNA double-strand break formation;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C11orf80			https://www.ncbi.nlm.nih.gov/omim/?term=616109	http://www.informatics.jax.org/searchtool/Search.do?query=C11orf80&submit=Quick%0D%13417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf80	rs567536854	0	0.3517	0.5978	1	0	0	exonic	exonic	exonic	C11orf80	C11orf80	ENSG00000173715	nonframeshift substitution	nonframeshift substitution	unknown	C11orf80:NM_024650:exon1:c.77_77delinsGGGC,	C11orf80:uc021qmd.1:exon1:c.77_77delinsGGGC,	UNKNOWN	Het;+GGC	414;2|11	Hom;+GGC	548;0|14
N	N	-	11	66833265	66833265	G	A	snp	intronic	 	 	 	 	RHOD	Rhod	ENSG00000173156	ras homolog family member D	chr11:66824289-66839484	Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	Body Height	 	RHO GTPases Activate Formins	GO:0006605;protein targeting;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007266;Rho protein signal transduction;TAS|GO:0030032;lamellipodium assembly;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051017;actin filament bundle assembly;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051893;regulation of focal adhesion assembly;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RHOD			https://www.ncbi.nlm.nih.gov/omim/?term=605781	http://www.informatics.jax.org/searchtool/Search.do?query=RHOD&submit=Quick%0D%13299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHOD	rs12803688	0.604832	0	0	1	0	0	intronic	intronic	intronic	RHOD	RHOD	ENSG00000173156	Na	Na	Na	Na	Na	Na	Het;G>A	31;2|2	Hom;G>A	145;0|5
N	N	-	11	66833327	66833327	G	A	snp	intronic	 	 	 	 	RHOD	Rhod	ENSG00000173156	ras homolog family member D	chr11:66824289-66839484	Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	Body Height	 	RHO GTPases Activate Formins	GO:0006605;protein targeting;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007266;Rho protein signal transduction;TAS|GO:0030032;lamellipodium assembly;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051017;actin filament bundle assembly;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051893;regulation of focal adhesion assembly;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RHOD			https://www.ncbi.nlm.nih.gov/omim/?term=605781	http://www.informatics.jax.org/searchtool/Search.do?query=RHOD&submit=Quick%0D%13299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHOD	rs12287978	0.4373	0.3544	0.4111	1	0	0	intronic	intronic	intronic	RHOD	RHOD	ENSG00000173156	Na	Na	Na	Na	Na	Na	Het;G>A	110;16|7	Hom;G>A	494;0|20
N	N	-	11	66834252	66834252	C	T	snp	synonymous SNV	C264T	D88D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	RHOD	Rhod	ENSG00000173156	ras homolog family member D	chr11:66824289-66839484	Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	Body Height	 	RHO GTPases Activate Formins	GO:0006605;protein targeting;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007266;Rho protein signal transduction;TAS|GO:0030032;lamellipodium assembly;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051017;actin filament bundle assembly;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051893;regulation of focal adhesion assembly;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RHOD			https://www.ncbi.nlm.nih.gov/omim/?term=605781	http://www.informatics.jax.org/searchtool/Search.do?query=RHOD&submit=Quick%0D%13299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHOD	rs2282502	0.381789	0.3047	0.3901	1	0	0	exonic	exonic	exonic	RHOD	RHOD	ENSG00000173156	synonymous SNV	synonymous SNV	unknown	RHOD:NM_014578:exon3:c.C264T:p.D88D,	RHOD:uc001ojv.3:exon3:c.C264T:p.D88D,	UNKNOWN	Het;C>T	336;42|21	Hom;C>T	675;0|26
N	N	-	11	67288594	67288594	C	T	snp	nonsynonymous SNV	G281A	R94Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	CABP2	Cabp2	ENSG00000167791	calcium binding protein 2	chr11:67286383-67290899	This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]	Neuroblastoma	Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits.		GO:0007165;signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005509;calcium ion binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CABP2		https://hpo.jax.org/app/browse/search?q=CABP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607314	http://www.informatics.jax.org/searchtool/Search.do?query=CABP2&submit=Quick%0D%12119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CABP2	rs2276118	0.429712	0.4186	0.5289	0.31	4	13	exonic	exonic	exonic	CABP2	CABP2	ENSG00000167791	nonsynonymous SNV	nonsynonymous SNV	unknown	CABP2:NM_016366:exon4:c.G281A:p.R94Q,	CABP2:uc001omc.1:exon4:c.G281A:p.R94Q,CABP2:uc001ome.1:exon4:c.G299A:p.R100Q,	UNKNOWN	Het;C>T	1551;87|78	Hom;C>T	4495;0|169
N	N	-	11	67351529	67351529	A	AG	indel	intronic	 	 	 	 	GSTP1	Gstp2	ENSG00000084207	glutathione S-transferase pi 1	chr11:67351066-67354131	Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008]	Gastritis, Atrophic|Helicobacter Infections|Metaplasia|Peptic Ulcer; Down's syndrome; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; Genital Diseases, Female; Obesity; Hepatitis B, Chronic|Liver Cirrhosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Fanconi Anemia|Fanconi's Anemia|Hematologic Diseases; Disease Susceptibility|Stomach Neoplasms; Brain Neoplasms; vinyl chloride; Acute Lung Injury|Respiratory Distress Syndrome, Adult; DNA damage associated with exposure to air pollution; Inflammation; Carcinoma, Hepatocellular|Liver Neoplasms; Colonic Neoplasms|Peripheral Nervous System Diseases; miscarriage; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Chromosome Aberrations|Chromosome abnormality; tobacco consumption; Macular Degeneration; lung function; Atopy. airway obstruction. BHR. asthma; pancreatic disease pancreatitis, chronic; DNA Damage|Ehlers-Danlos Syndrome|; Coronary Disease; Dyspepsia|Peptic Ulcer|Stomach Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Leukemia|Prenatal Exposure Delayed Effects; melanoma|Skin Neoplasms; docetaxel pharmacokinetics docetaxel toxicity; high-altitude tolerance; chronic obstructive pulmonary disease/COPD emphysema; Hodgkin Disease; Dermatitis, Atopic|; Dyskinesia, Drug-Induced; Hepatitis B|Hepatitis, Chronic|Liver Cirrhosis; Barrett Esophagus|Esophagitis, Peptic|Gastroesophageal Reflux|Peptic Esophagitis; Hodgkin's disease; non-Hodgkin's lymphoma; chemotherapy-induced leukemia; Adenocarcinoma|Hematologic Diseases|Rectal Neoplasms; Metaplasia|Stomach Neoplasms; thyroid neoplasm|Thyroid Neoplasms; Respiratory Hypersensitivity; Genetic Predisposition to Disease|Mouth Neoplasms|Neoplasms, Squamous Cell; oxidative stress ; Rhinitis, Allergic, Perennial; Cleft Lip|Cleft Palate; cyclophosphamide pharmacokinetics; non-allergic nasal polyposis; Brain Neoplasms|Glioma|oligodendroglioma; leukemia, childhood acute lymphoblastic; perinatal mortality; body burden of methylmercury; ovarian cancer ; Graves disease; vitamin C excretion; Balkan Nephropathy; Premature Birth; Carcinoma, Transitional Cell|Urologic Neoplasms; DNA damage, biomarkers of; methamphetamine abuse; psychoses; head and neck cancer; lung cancer ; Prostatic Neoplasms; Gastrointestinal Neoplasms|Nervous System Diseases; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; myeloid leukemia; Type 2 Diabetes| edema | rosiglitazone; exposure to 1,3-butadiene; Black carbon exposure; Cystic Fibrosis|Pseudomonas Infections; Kidney Neoplasms; Presbycusis| Hearing Loss; Birth Weight|Respiratory Distress Syndrome, Newborn; arsnic exposure; Infection|Inflammation|Premature Birth; Liver Cirrhosis, Alcoholic; Poisoning; Colorectal Neoplasms; bronchopulmonary dysplasia.; organophosphate toxicity; dyskinesias; Drug-Induced Liver Injury|Liver Diseases; encephalopathy, solvent-induced; arsenic toxicity; Type 2 diabetes; Lung Neoplasms|Neoplasm of lung ; Alzheimer's disease; Alcoholic Liver Diseases|Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver Diseases, Alcoholic|Liver neoplasms; laryngeal cancer; lymphoma; cervical cancer; Dyskinesia, Drug-Induced|; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Testicular Neoplasms; glaucoma, primary open-angle; pancreatitis; Nephrotic Syndrome; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms; 1-hydroxypyrene, urinary; azathioprine adverse effects; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary; Sensation Disorders|Vestibular Diseases; Carcinoma, Squamous Cell|Mouth Neoplasms|Oropharyngeal Neoplasms; Colorectal Neoplasms|Nervous System Diseases; Drug-Induced Liver Injury|Graft vs Host Disease|Inflammation|Leukemia|Liver Diseases; Graft vs Host Disease|Hemoglobinopathies; Adenoma|Carcinoma|Colorectal Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Postoperative Complications|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; hypertension, gestational; solar keratosis; kidney cancer; Birth Weight|Fetal Growth Retardation; Glioma; colorectal cancer; prostate cancer; breast cancer ; colorectal cancer stomach cancer; pharmacogenetic variation; Rosacea; Birth Weight; Glaucoma, Open-Angle; Astrocytoma|Brain Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Squamous cell carcinoma; bladder cancer; lymphoma, Non-Hodgkin's; Neutropenia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|; Brain Neoplasms|Glioma; Carcinoma, Endometrioid|Endometrial Neoplasms; esophageal and gastric cardia cancer; Stomach Neoplasms; Multiple Chemical Sensitivity; Chronic renal failure|Kidney Failure, Chronic; Alcoholism|Head and Neck Neoplasms; cytogenetic studies; gastric disease; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Asbestosis; leukemia; stomach cancer; Psychoses, Substance-Induced|Substance-Related Disorders; chronic benzene poisoning; Infection|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Basal Cell|Skin Neoplasms; Arthritis, Rheumatoid; colorectal carcinoma; Diabetes mellitus; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer; hamartomas; pancreatic cancer; ovarian cancer; methotrexate toxicity; temozolomide; Hepatic Veno-Occlusive Disease; Sarcoidosis; Dermatitis, Atopic|Eczema allergic; Leukemia, Myeloid|Myeloid Leukemia; Cell Transformation, Neoplastic|Chronic ulcerative colitis|Colitis, Ulcerative; cognitive ability; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; Pancreatitis; immunologic markers among vulcanization workers ; Emphysema; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arsenic Poisoning|Skin Diseases; bronchitis; pneumonia; styrene toxicity; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; Urologic Neoplasms; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Telangiectasis; Chromosome Aberrations|Chromosome abnormality|Chromosome Deletion|Translocation, Genetic; Cell Transformation, Neoplastic|DNA Damage|Lung Neoplasms|Neoplasm of lung ; Dysmenorrhea; Leukopenia|Urologic Neoplasms; Vitiligo; schizophrenia; acrylonitrile metabolism/toxicity; ethylene oxide metabolism/toxicity; preeclampsia; brain cancer; null; Infertility, Male; Prostatic Hyperplasia|Prostatic Neoplasms; Drug Eruptions; hepatitis B-related hepatocellular carcinoma; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; diabetes, type 2; Esophagitis, Peptic|Peptic Esophagitis; Astrocytoma|Brain Neoplasms|Glioblastoma; Carcinoma|Oropharyngeal Neoplasms|Tumor of Oropharynx; Migraine Disorders; pancreatic neoplasm|Pancreatic Neoplasms; central nervous system relapse; Lung cancer; Asthma; glutathione S-transferase; PAH-DNA adducts; cognitive trait; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Astrocytoma|Brain Neoplasms|Ependymoma|Glioma|Neoplasm Metastasis|oligodendroglioma; Crohn's disease; chemical-related sensitivity; Body Weight; Fatty Liver|; Total IgE; busulfan ; Pulmonary Disease, Chronic Obstructive; pharmacogenetic studies; Exfoliation Syndrome|Glaucoma, Open-Angle; Cervical Neoplasm|Uterine Cervical Neoplasms; Arthritis, Juvenile Rheumatoid|Disease Susceptibility; breast cancer; asbestosis or pleural plaques; COPD | Chronic obstructive Pulmonary Disease; Carcinoma, Papillary|Thyroid Neoplasms; Brain Neoplasms|Kidney Diseases|Leukemia|Neurotoxicity Syndromes; Cleft Palate; Alcoholism|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Skin Diseases; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; esophageal carcinoma; Chromosome Aberrations; hearing impairment|Hearing Loss|Neoplasms, Testis|Testicular Neoplasms; lung adenocarcinoma; Asthma|; Helicobacter Infections|Stomach Neoplasms; Airway Remodeling; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse; cocaine dependence; esophageal cancer; gallbladder cancer; arsenic metabolism; Liver Diseases, Alcoholic; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Neuroblastoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Edema|Protein-Energy Malnutrition; Lupus Erythematosus, Cutaneous|Lupus Erythematosus, Discoid|Photosensitivity Disorders|Skin Diseases; Pre-Eclampsia; Occupational Diseases; Bladder Neoplasm|Neoplasms, Prostatic|Prostatic Neoplasms|Urinary Bladder Neoplasms; Barrett's esophagus esophageal cancer; Oral cancer; Ascorbic Acid Deficiency; Micronuclei, Chromosome-Defective; Head and Neck Neoplasms; head and neck cancer; benzene toxicity; Atopic asthma; benzene toxicity; Respiratory Sounds; Peripheral Nervous System Diseases; Adenocarcinoma|Stomach Neoplasms; chronic obstructive pulmonary disease/COPD; SPT; cystic fibrosis.; phenanthrene metabolite ratios, urinary; Hearing Loss, Noise-Induced; Malaria, Falciparum|Malaria, Vivax; DNA damage; normal variation; Eye Diseases|Hypersensitivity|Respiratory Tract Diseases; Cleft Lip|Cleft Palate|Congenital Abnormalities; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; polycyclic aromatic hydrocarbons; chemotherapy toxicity; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Endometrial Neoplasms; Adenoma|Colorectal Neoplasms; Esophageal Neoplasms|Oesophageal neoplasm; cirrhosis; Germinoma|Testicular Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; lung cancer; Chromosome Aberrations|DNA Damage; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; Multiple Myeloma; Inflammation|Premature Birth; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; esophageal adenocarcinoma; cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD; isothiocyanates; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms|Squamous cell carcinoma; emphysema; Aging/ Telomere Length; Prenatal Exposure Delayed Effects; metabolism of toluene di-isocyanate; DNA Damage; Adenocarcinoma|Neoplasms, Prostatic|Prostatic Hyperplasia|Prostatic Neoplasms; cutaneous reactions to sulfonamides; COPD; gastric cancer; Leukoplakia, Oral; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma|Lung Neoplasms|Neoplasm of lung ; 2-hydroxyethyl mercapturic acid; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Helicobacter Infections; methamphetamine use; Hypersensitivity|Inflammation|Respiratory Hypersensitivity; Brill-Symmers disease|Lymphoma, Follicular; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Mouth Neoplasms|Neoplasm of lung |Squamous cell carcinoma|Stomach Neoplasms; Alcoholism|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Lymphoma, B-Cell, Marginal Zone|mucosa-associated lymphoid tissue lymphoma|Stomach Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; cystic fibrosis; longevity; Neoplasms; Lymphoma, Large B-Cell, Diffuse; Aneuploidy|Chromosome Aberrations|Chromosome abnormality|Trisomy; Carcinoma, Squamous Cell|Mouth Neoplasms; drug-related genes ; Cystic Fibrosis|DNA Damage; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; Bladder Neoplasm|Urinary Bladder Neoplasms; asthma; Total IgE. SPT. FEV1; DNA Damage|Neoplasms|Skin Diseases; Breast Neoplasms|Carcinoma|Mammary Neoplasms|Neoplasm Invasiveness; ototoxicity; skin cancer, non-melanoma; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; Chronic Obstructive Pulmonary Disease; metastatic colorectal cancer; Parkinson's disease; DNA adducts; blood pressure; Prenatal Exposure Delayed Effects|Respiratory Tract Diseases; Asthma|Prenatal Exposure Delayed Effects|Respiratory Hypersensitivity|Respiratory Sounds; hypertension; Amphetamine-Related Disorders; oral cancer; leukoplakia; styrene; Leukoplakia, Oral|Mouth Neoplasms; motor neuron disease; arthritis; osteoarthritis; methylmercury retention; Asthma|Prenatal Exposure Delayed Effects|Respiratory Sounds; Graves Disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; Neoplasms, Prostatic|Prostatic Hyperplasia|Prostatic Neoplasms; Endometriosis; pancreatitis, chronic; Dermatitis, Atopic|Eczema allergic|Prenatal Exposure Delayed Effects; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell; smoking; Carcinoma, Squamous Cell|Esophageal Neoplasms|; lead and mercury metabolism; atherosclerosis; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Lung Neoplasms|Neoplasm of lung ; DNA Damage|Myocardial Infarction; Esophagitis, Peptic|Helicobacter Infections|Peptic Esophagitis; pulmonary fibrosis; sex hormones; aplastic anemia, acquired; lymphoma; Hodgkin's disease; liver disease, alcoholic; chronic obstructive pulmonary disease; Lymphoma, Non-Hodgkin; Malaria, Falciparum; Adenomatous Polyposis Coli|Duodenal Neoplasms; formaldehyde; thyroid cancer; Myelodysplastic Syndromes; Leukemia, Myeloid, Acute; Liver Cirrhosis; Esophageal Atresia; Respiration Disorders; Bone Marrow Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; lung cancer; laryngeal cancer; bladder cancer; 2-thiothiazolidine-4-carboxylic acid levels; liver cancer; sulphamethoxazole hypersensitivity; intrauterine growth; acrylamide; multiple myeloma; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Asthma|Bronchial Hyperreactivity; Essential Tremor	Mutant mice with null mutations in both Gstp1 and Gstp2 exhibit an increased susceptibility to DMBA and TPA induced skin papillomas.  Male mutant mice exhibit an increased body weight with age.	Neutrophil degranulation	GO:0000302;response to reactive oxygen species;ISS|GO:0002674;negative regulation of acute inflammatory response;NAS|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006749;glutathione metabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0007417;central nervous system development;TAS|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0009890;negative regulation of biosynthetic process;IDA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IC|GO:0014003;oligodendrocyte development;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032355;response to estradiol;IEA|GO:0032691;negative regulation of interleukin-1 beta production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0032872;regulation of stress-activated MAPK cascade;ISS|GO:0032873;negative regulation of stress-activated MAPK cascade;ISS|GO:0032930;positive regulation of superoxide anion generation;ISS|GO:0033591;response to L-ascorbic acid;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0035726;common myeloid progenitor cell proliferation;ISS|GO:0035732;nitric oxide storage;NAS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043200;response to amino acid;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043409;negative regulation of MAPK cascade;NAS|GO:0043508;negative regulation of JUN kinase activity;IDA|GO:0043651;linoleic acid metabolic process;IDA|GO:0045471;response to ethanol;IEA|GO:0048147;negative regulation of fibroblast proliferation;ISS|GO:0051771;negative regulation of nitric-oxide synthase biosynthetic process;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA|GO:0070664;negative regulation of leukocyte proliferation;ISS|GO:0071222;cellular response to lipopolysaccharide;ISS|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0071460;cellular response to cell-matrix adhesion;IEA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IDA|GO:0071672;negative regulation of smooth muscle cell chemotaxis;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0031982;vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0097057;TRAF2-GSTP1 complex;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004364;glutathione transferase activity;TAS|GO:0004602;glutathione peroxidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IEA|GO:0008432;JUN kinase binding;ISS|GO:0016740;transferase activity;IEA|GO:0019207;kinase regulator activity;ISS|GO:0019901;protein kinase binding;IEA|GO:0035730;S-nitrosoglutathione binding;IDA|GO:0035731;dinitrosyl-iron complex binding;IDA|GO:0043295;glutathione binding;IEA|GO:0070026;nitric oxide binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/GSTP1	https://www.uniprot.org/uniprot/P09211		https://www.ncbi.nlm.nih.gov/omim/?term=134660	http://www.informatics.jax.org/searchtool/Search.do?query=GSTP1&submit=Quick%0D%1857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTP1	rs145589007	0	0.4216	0	1	0	0	intronic	intronic	intronic	GSTP1	GSTP1	ENSG00000084207	Na	Na	Na	Na	Na	Na	Het;+G	78;8|3	Hom;+G	454;0|10
N	N	-	11	67351585	67351585	C	G	snp	intronic	 	 	 	 	GSTP1	Gstp2	ENSG00000084207	glutathione S-transferase pi 1	chr11:67351066-67354131	Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008]	Gastritis, Atrophic|Helicobacter Infections|Metaplasia|Peptic Ulcer; Down's syndrome; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; Genital Diseases, Female; Obesity; Hepatitis B, Chronic|Liver Cirrhosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Fanconi Anemia|Fanconi's Anemia|Hematologic Diseases; Disease Susceptibility|Stomach Neoplasms; Brain Neoplasms; vinyl chloride; Acute Lung Injury|Respiratory Distress Syndrome, Adult; DNA damage associated with exposure to air pollution; Inflammation; Carcinoma, Hepatocellular|Liver Neoplasms; Colonic Neoplasms|Peripheral Nervous System Diseases; miscarriage; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Chromosome Aberrations|Chromosome abnormality; tobacco consumption; Macular Degeneration; lung function; Atopy. airway obstruction. BHR. asthma; pancreatic disease pancreatitis, chronic; DNA Damage|Ehlers-Danlos Syndrome|; Coronary Disease; Dyspepsia|Peptic Ulcer|Stomach Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Leukemia|Prenatal Exposure Delayed Effects; melanoma|Skin Neoplasms; docetaxel pharmacokinetics docetaxel toxicity; high-altitude tolerance; chronic obstructive pulmonary disease/COPD emphysema; Hodgkin Disease; Dermatitis, Atopic|; Dyskinesia, Drug-Induced; Hepatitis B|Hepatitis, Chronic|Liver Cirrhosis; Barrett Esophagus|Esophagitis, Peptic|Gastroesophageal Reflux|Peptic Esophagitis; Hodgkin's disease; non-Hodgkin's lymphoma; chemotherapy-induced leukemia; Adenocarcinoma|Hematologic Diseases|Rectal Neoplasms; Metaplasia|Stomach Neoplasms; thyroid neoplasm|Thyroid Neoplasms; Respiratory Hypersensitivity; Genetic Predisposition to Disease|Mouth Neoplasms|Neoplasms, Squamous Cell; oxidative stress ; Rhinitis, Allergic, Perennial; Cleft Lip|Cleft Palate; cyclophosphamide pharmacokinetics; non-allergic nasal polyposis; Brain Neoplasms|Glioma|oligodendroglioma; leukemia, childhood acute lymphoblastic; perinatal mortality; body burden of methylmercury; ovarian cancer ; Graves disease; vitamin C excretion; Balkan Nephropathy; Premature Birth; Carcinoma, Transitional Cell|Urologic Neoplasms; DNA damage, biomarkers of; methamphetamine abuse; psychoses; head and neck cancer; lung cancer ; Prostatic Neoplasms; Gastrointestinal Neoplasms|Nervous System Diseases; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; myeloid leukemia; Type 2 Diabetes| edema | rosiglitazone; exposure to 1,3-butadiene; Black carbon exposure; Cystic Fibrosis|Pseudomonas Infections; Kidney Neoplasms; Presbycusis| Hearing Loss; Birth Weight|Respiratory Distress Syndrome, Newborn; arsnic exposure; Infection|Inflammation|Premature Birth; Liver Cirrhosis, Alcoholic; Poisoning; Colorectal Neoplasms; bronchopulmonary dysplasia.; organophosphate toxicity; dyskinesias; Drug-Induced Liver Injury|Liver Diseases; encephalopathy, solvent-induced; arsenic toxicity; Type 2 diabetes; Lung Neoplasms|Neoplasm of lung ; Alzheimer's disease; Alcoholic Liver Diseases|Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver Diseases, Alcoholic|Liver neoplasms; laryngeal cancer; lymphoma; cervical cancer; Dyskinesia, Drug-Induced|; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Testicular Neoplasms; glaucoma, primary open-angle; pancreatitis; Nephrotic Syndrome; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms; 1-hydroxypyrene, urinary; azathioprine adverse effects; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary; Sensation Disorders|Vestibular Diseases; Carcinoma, Squamous Cell|Mouth Neoplasms|Oropharyngeal Neoplasms; Colorectal Neoplasms|Nervous System Diseases; Drug-Induced Liver Injury|Graft vs Host Disease|Inflammation|Leukemia|Liver Diseases; Graft vs Host Disease|Hemoglobinopathies; Adenoma|Carcinoma|Colorectal Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Postoperative Complications|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; hypertension, gestational; solar keratosis; kidney cancer; Birth Weight|Fetal Growth Retardation; Glioma; colorectal cancer; prostate cancer; breast cancer ; colorectal cancer stomach cancer; pharmacogenetic variation; Rosacea; Birth Weight; Glaucoma, Open-Angle; Astrocytoma|Brain Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Squamous cell carcinoma; bladder cancer; lymphoma, Non-Hodgkin's; Neutropenia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|; Brain Neoplasms|Glioma; Carcinoma, Endometrioid|Endometrial Neoplasms; esophageal and gastric cardia cancer; Stomach Neoplasms; Multiple Chemical Sensitivity; Chronic renal failure|Kidney Failure, Chronic; Alcoholism|Head and Neck Neoplasms; cytogenetic studies; gastric disease; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Asbestosis; leukemia; stomach cancer; Psychoses, Substance-Induced|Substance-Related Disorders; chronic benzene poisoning; Infection|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Basal Cell|Skin Neoplasms; Arthritis, Rheumatoid; colorectal carcinoma; Diabetes mellitus; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer; hamartomas; pancreatic cancer; ovarian cancer; methotrexate toxicity; temozolomide; Hepatic Veno-Occlusive Disease; Sarcoidosis; Dermatitis, Atopic|Eczema allergic; Leukemia, Myeloid|Myeloid Leukemia; Cell Transformation, Neoplastic|Chronic ulcerative colitis|Colitis, Ulcerative; cognitive ability; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; Pancreatitis; immunologic markers among vulcanization workers ; Emphysema; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arsenic Poisoning|Skin Diseases; bronchitis; pneumonia; styrene toxicity; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; Urologic Neoplasms; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Telangiectasis; Chromosome Aberrations|Chromosome abnormality|Chromosome Deletion|Translocation, Genetic; Cell Transformation, Neoplastic|DNA Damage|Lung Neoplasms|Neoplasm of lung ; Dysmenorrhea; Leukopenia|Urologic Neoplasms; Vitiligo; schizophrenia; acrylonitrile metabolism/toxicity; ethylene oxide metabolism/toxicity; preeclampsia; brain cancer; null; Infertility, Male; Prostatic Hyperplasia|Prostatic Neoplasms; Drug Eruptions; hepatitis B-related hepatocellular carcinoma; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; diabetes, type 2; Esophagitis, Peptic|Peptic Esophagitis; Astrocytoma|Brain Neoplasms|Glioblastoma; Carcinoma|Oropharyngeal Neoplasms|Tumor of Oropharynx; Migraine Disorders; pancreatic neoplasm|Pancreatic Neoplasms; central nervous system relapse; Lung cancer; Asthma; glutathione S-transferase; PAH-DNA adducts; cognitive trait; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Astrocytoma|Brain Neoplasms|Ependymoma|Glioma|Neoplasm Metastasis|oligodendroglioma; Crohn's disease; chemical-related sensitivity; Body Weight; Fatty Liver|; Total IgE; busulfan ; Pulmonary Disease, Chronic Obstructive; pharmacogenetic studies; Exfoliation Syndrome|Glaucoma, Open-Angle; Cervical Neoplasm|Uterine Cervical Neoplasms; Arthritis, Juvenile Rheumatoid|Disease Susceptibility; breast cancer; asbestosis or pleural plaques; COPD | Chronic obstructive Pulmonary Disease; Carcinoma, Papillary|Thyroid Neoplasms; Brain Neoplasms|Kidney Diseases|Leukemia|Neurotoxicity Syndromes; Cleft Palate; Alcoholism|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Skin Diseases; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; esophageal carcinoma; Chromosome Aberrations; hearing impairment|Hearing Loss|Neoplasms, Testis|Testicular Neoplasms; lung adenocarcinoma; Asthma|; Helicobacter Infections|Stomach Neoplasms; Airway Remodeling; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse; cocaine dependence; esophageal cancer; gallbladder cancer; arsenic metabolism; Liver Diseases, Alcoholic; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Neuroblastoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Edema|Protein-Energy Malnutrition; Lupus Erythematosus, Cutaneous|Lupus Erythematosus, Discoid|Photosensitivity Disorders|Skin Diseases; Pre-Eclampsia; Occupational Diseases; Bladder Neoplasm|Neoplasms, Prostatic|Prostatic Neoplasms|Urinary Bladder Neoplasms; Barrett's esophagus esophageal cancer; Oral cancer; Ascorbic Acid Deficiency; Micronuclei, Chromosome-Defective; Head and Neck Neoplasms; head and neck cancer; benzene toxicity; Atopic asthma; benzene toxicity; Respiratory Sounds; Peripheral Nervous System Diseases; Adenocarcinoma|Stomach Neoplasms; chronic obstructive pulmonary disease/COPD; SPT; cystic fibrosis.; phenanthrene metabolite ratios, urinary; Hearing Loss, Noise-Induced; Malaria, Falciparum|Malaria, Vivax; DNA damage; normal variation; Eye Diseases|Hypersensitivity|Respiratory Tract Diseases; Cleft Lip|Cleft Palate|Congenital Abnormalities; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; polycyclic aromatic hydrocarbons; chemotherapy toxicity; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Endometrial Neoplasms; Adenoma|Colorectal Neoplasms; Esophageal Neoplasms|Oesophageal neoplasm; cirrhosis; Germinoma|Testicular Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; lung cancer; Chromosome Aberrations|DNA Damage; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; Multiple Myeloma; Inflammation|Premature Birth; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; esophageal adenocarcinoma; cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD; isothiocyanates; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms|Squamous cell carcinoma; emphysema; Aging/ Telomere Length; Prenatal Exposure Delayed Effects; metabolism of toluene di-isocyanate; DNA Damage; Adenocarcinoma|Neoplasms, Prostatic|Prostatic Hyperplasia|Prostatic Neoplasms; cutaneous reactions to sulfonamides; COPD; gastric cancer; Leukoplakia, Oral; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma|Lung Neoplasms|Neoplasm of lung ; 2-hydroxyethyl mercapturic acid; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Helicobacter Infections; methamphetamine use; Hypersensitivity|Inflammation|Respiratory Hypersensitivity; Brill-Symmers disease|Lymphoma, Follicular; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Mouth Neoplasms|Neoplasm of lung |Squamous cell carcinoma|Stomach Neoplasms; Alcoholism|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Lymphoma, B-Cell, Marginal Zone|mucosa-associated lymphoid tissue lymphoma|Stomach Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; cystic fibrosis; longevity; Neoplasms; Lymphoma, Large B-Cell, Diffuse; Aneuploidy|Chromosome Aberrations|Chromosome abnormality|Trisomy; Carcinoma, Squamous Cell|Mouth Neoplasms; drug-related genes ; Cystic Fibrosis|DNA Damage; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; Bladder Neoplasm|Urinary Bladder Neoplasms; asthma; Total IgE. SPT. FEV1; DNA Damage|Neoplasms|Skin Diseases; Breast Neoplasms|Carcinoma|Mammary Neoplasms|Neoplasm Invasiveness; ototoxicity; skin cancer, non-melanoma; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; Chronic Obstructive Pulmonary Disease; metastatic colorectal cancer; Parkinson's disease; DNA adducts; blood pressure; Prenatal Exposure Delayed Effects|Respiratory Tract Diseases; Asthma|Prenatal Exposure Delayed Effects|Respiratory Hypersensitivity|Respiratory Sounds; hypertension; Amphetamine-Related Disorders; oral cancer; leukoplakia; styrene; Leukoplakia, Oral|Mouth Neoplasms; motor neuron disease; arthritis; osteoarthritis; methylmercury retention; Asthma|Prenatal Exposure Delayed Effects|Respiratory Sounds; Graves Disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; Neoplasms, Prostatic|Prostatic Hyperplasia|Prostatic Neoplasms; Endometriosis; pancreatitis, chronic; Dermatitis, Atopic|Eczema allergic|Prenatal Exposure Delayed Effects; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell; smoking; Carcinoma, Squamous Cell|Esophageal Neoplasms|; lead and mercury metabolism; atherosclerosis; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Lung Neoplasms|Neoplasm of lung ; DNA Damage|Myocardial Infarction; Esophagitis, Peptic|Helicobacter Infections|Peptic Esophagitis; pulmonary fibrosis; sex hormones; aplastic anemia, acquired; lymphoma; Hodgkin's disease; liver disease, alcoholic; chronic obstructive pulmonary disease; Lymphoma, Non-Hodgkin; Malaria, Falciparum; Adenomatous Polyposis Coli|Duodenal Neoplasms; formaldehyde; thyroid cancer; Myelodysplastic Syndromes; Leukemia, Myeloid, Acute; Liver Cirrhosis; Esophageal Atresia; Respiration Disorders; Bone Marrow Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; lung cancer; laryngeal cancer; bladder cancer; 2-thiothiazolidine-4-carboxylic acid levels; liver cancer; sulphamethoxazole hypersensitivity; intrauterine growth; acrylamide; multiple myeloma; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Asthma|Bronchial Hyperreactivity; Essential Tremor	Mutant mice with null mutations in both Gstp1 and Gstp2 exhibit an increased susceptibility to DMBA and TPA induced skin papillomas.  Male mutant mice exhibit an increased body weight with age.	Neutrophil degranulation	GO:0000302;response to reactive oxygen species;ISS|GO:0002674;negative regulation of acute inflammatory response;NAS|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006749;glutathione metabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0007417;central nervous system development;TAS|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0009890;negative regulation of biosynthetic process;IDA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IC|GO:0014003;oligodendrocyte development;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032355;response to estradiol;IEA|GO:0032691;negative regulation of interleukin-1 beta production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0032872;regulation of stress-activated MAPK cascade;ISS|GO:0032873;negative regulation of stress-activated MAPK cascade;ISS|GO:0032930;positive regulation of superoxide anion generation;ISS|GO:0033591;response to L-ascorbic acid;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0035726;common myeloid progenitor cell proliferation;ISS|GO:0035732;nitric oxide storage;NAS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043200;response to amino acid;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043409;negative regulation of MAPK cascade;NAS|GO:0043508;negative regulation of JUN kinase activity;IDA|GO:0043651;linoleic acid metabolic process;IDA|GO:0045471;response to ethanol;IEA|GO:0048147;negative regulation of fibroblast proliferation;ISS|GO:0051771;negative regulation of nitric-oxide synthase biosynthetic process;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA|GO:0070664;negative regulation of leukocyte proliferation;ISS|GO:0071222;cellular response to lipopolysaccharide;ISS|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0071460;cellular response to cell-matrix adhesion;IEA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IDA|GO:0071672;negative regulation of smooth muscle cell chemotaxis;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0031982;vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0097057;TRAF2-GSTP1 complex;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004364;glutathione transferase activity;TAS|GO:0004602;glutathione peroxidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IEA|GO:0008432;JUN kinase binding;ISS|GO:0016740;transferase activity;IEA|GO:0019207;kinase regulator activity;ISS|GO:0019901;protein kinase binding;IEA|GO:0035730;S-nitrosoglutathione binding;IDA|GO:0035731;dinitrosyl-iron complex binding;IDA|GO:0043295;glutathione binding;IEA|GO:0070026;nitric oxide binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/GSTP1	https://www.uniprot.org/uniprot/P09211		https://www.ncbi.nlm.nih.gov/omim/?term=134660	http://www.informatics.jax.org/searchtool/Search.do?query=GSTP1&submit=Quick%0D%1857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTP1	rs4147581	0.424321	0.3879	0.4913	1	0	0	intronic	intronic	intronic	GSTP1	GSTP1	ENSG00000084207	Na	Na	Na	Na	Na	Na	Het;C>G	291;23|14	Hom;C>G	1072;0|37
N	N	-	11	67397668	67397668	G	A	snp	upstream	 	 	 	 	NUDT8	Nudt8	ENSG00000167799	nudix hydrolase 8	chr11:67395409-67397401		Acquired Immunodeficiency Syndrome|Disease Progression	 				GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT8				http://www.informatics.jax.org/searchtool/Search.do?query=NUDT8&submit=Quick%0D%12122ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT8	rs78371233	0.541334	0	0	1	0	0	upstream	upstream	upstream	NUDT8	NUDT8	ENSG00000167799	Na	Na	Na	Na	Na	Na	Het;G>A	38;5|2	Hom;G>A	107;0|3
N	N	-	11	67397675	67397675	G	A	snp	upstream	 	 	 	 	NUDT8	Nudt8	ENSG00000167799	nudix hydrolase 8	chr11:67395409-67397401		Acquired Immunodeficiency Syndrome|Disease Progression	 				GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT8				http://www.informatics.jax.org/searchtool/Search.do?query=NUDT8&submit=Quick%0D%12122ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT8	rs7102670	0.828474	0	0	1	0	0	upstream	upstream	upstream	NUDT8	NUDT8	ENSG00000167799	Na	Na	Na	Na	Na	Na	Het;G>A	128;6|5	Hom;G>A	107;0|3
N	N	-	11	67399970	67399970	C	T	snp	intronic	 	 	 	 	TBX10	Tbx10	ENSG00000167800	T-box 10	chr11:67398774-67407031	This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]	Cleft Lip|Cleft Palate; cleft lip with cleft palate; cleft lip without cleft palate	Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBX10			https://www.ncbi.nlm.nih.gov/omim/?term=604648	http://www.informatics.jax.org/searchtool/Search.do?query=TBX10&submit=Quick%0D%12123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX10	rs3765088	0.430511	0	0	1	0	0	intronic	intronic	intronic	TBX10	TBX10	ENSG00000167800	Na	Na	Na	Na	Na	Na	Het;C>T	224;16|11	Hom;C>T	829;0|26
N	N	-	11	67552771	67552771	A	G	snp	ncRNA_exonic	 	 	 	 	ALG1L8P																		rs4258385	0.426318	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ALDH3B2(dist=104086),FAM86C2P(dist=6467)	ALDH3B2(dist=104086),DQ584669(dist=4793)	ENSG00000227620	Na	Na	Na	Na	Na	Na	Het;A>G	1698;77|80	Hom;A>G	3125;1|118
N	N	-	11	67553041	67553041	C	T	snp	ncRNA_intronic	 	 	 	 	ALG1L8P																		rs4616045	0.425519	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ALDH3B2(dist=104356),FAM86C2P(dist=6197)	ALDH3B2(dist=104356),DQ584669(dist=4523)	ENSG00000227620	Na	Na	Na	Na	Na	Na	Het;C>T	125;1|5	Hom;C>T	235;0|8
N	N	-	11	67553490	67553490	C	T	snp	ncRNA_intronic	 	 	 	 	ALG1L8P																		rs7941791	0.41893	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ALDH3B2(dist=104805),FAM86C2P(dist=5748)	ALDH3B2(dist=104805),DQ584669(dist=4074)	ENSG00000227620	Na	Na	Na	Na	Na	Na	Het;C>T	48;11|4	Hom;C>T	283;0|10
N	N	-	11	67555234	67555234	G	A	snp	ncRNA_intronic	 	 	 	 	ALG1L8P																		rs12793698	0.420128	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ALDH3B2(dist=106549),FAM86C2P(dist=4004)	ALDH3B2(dist=106549),DQ584669(dist=2330)	ENSG00000227620	Na	Na	Na	Na	Na	Na	Het;G>A	306;17|17	Hom;G>A	1501;0|53
N	N	-	11	67560506	67560506	T	C	snp	ncRNA_exonic	 	 	 	 	FAM86C2P																		rs1047554	0.830871	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FAM86C2P	FAM86C2P(uc001omt.4:c.*172A>G)	ENSG00000160172	Na	Na	Na	Na	Na	Na	Het;T>C	6458;42|266	Hom;T>C	7530;22|303
N	N	-	11	67700957	67700963	CCCACCA	C	indel	downstream	 	 	 	 	ENSG00000221553																		Na	0	0	0	1	0	0	intergenic	intergenic	downstream	FAM86C2P(dist=128150),UNC93B1(dist=57608)	AK091996(dist=42141),UNC93B1(dist=57612)	ENSG00000221553	Na	Na	Na	Na	Na	Na	Het;-CCACCA	116;2|4	Hom;-CCACCA	595;0|14
N	N	-	11	67723622	67723622	T	C	snp	intergenic	 	 	 	 	AC004923.1																		rs3862394	0.440296	0	0	1	0	0	intergenic	intergenic	intergenic	FAM86C2P(dist=150815),UNC93B1(dist=34949)	AK091996(dist=64806),UNC93B1(dist=34953)	ENSG00000254610(dist=16377),ENSG00000255230(dist=9722)	Na	Na	Na	Na	Na	Na	Het;T>C	448;17|18	Hom;T>C	560;0|19
N	N	-	11	67741749	67741749	G	C	snp	downstream	 	 	 	 	OR7E1P																		rs308331	0.511581	0	0	1	0	0	intergenic	intergenic	downstream	FAM86C2P(dist=168942),UNC93B1(dist=16822)	AK091996(dist=82933),UNC93B1(dist=16826)	ENSG00000255554	Na	Na	Na	Na	Na	Na	Het;G>C	161;5|7	Hom;G>C	446;0|15
N	N	-	11	67759500	67759500	C	T	snp	intronic	 	 	 	 	UNC93B1	Unc93b1	ENSG00000110057	unc-93 homolog B1 (C. elegans)	chr11:67758575-67772452	This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]	HERPES SIMPLEX ENCEPHALITIS SUSCEPTIBILITY TO 1	Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired.	Trafficking and processing of endosomal TLR	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;ISS|GO:0034138;toll-like receptor 3 signaling pathway;IMP|GO:0034154;toll-like receptor 7 signaling pathway;IMP|GO:0034162;toll-like receptor 9 signaling pathway;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA	GO:0000139;Golgi membrane;TAS|GO:0005764;lysosome;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032009;early phagosome;ISS|GO:0045335;phagocytic vesicle;IEA	GO:0035325;Toll-like receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UNC93B1	https://www.uniprot.org/uniprot/Q9H1C4		https://www.ncbi.nlm.nih.gov/omim/?term=608204	http://www.informatics.jax.org/searchtool/Search.do?query=UNC93B1&submit=Quick%0D%3918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC93B1	rs4014613	0	0	0	1	0	0	intronic	intronic	intronic	UNC93B1	UNC93B1	ENSG00000110057	Na	Na	Na	Na	Na	Na	Het;C>T	83;3|5	Hom;C>T	71;0|4
N	N	-	11	67765056	67765056	T	C	snp	intronic	 	 	 	 	UNC93B1	Unc93b1	ENSG00000110057	unc-93 homolog B1 (C. elegans)	chr11:67758575-67772452	This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]	HERPES SIMPLEX ENCEPHALITIS SUSCEPTIBILITY TO 1	Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired.	Trafficking and processing of endosomal TLR	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;ISS|GO:0034138;toll-like receptor 3 signaling pathway;IMP|GO:0034154;toll-like receptor 7 signaling pathway;IMP|GO:0034162;toll-like receptor 9 signaling pathway;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA	GO:0000139;Golgi membrane;TAS|GO:0005764;lysosome;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032009;early phagosome;ISS|GO:0045335;phagocytic vesicle;IEA	GO:0035325;Toll-like receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UNC93B1	https://www.uniprot.org/uniprot/Q9H1C4		https://www.ncbi.nlm.nih.gov/omim/?term=608204	http://www.informatics.jax.org/searchtool/Search.do?query=UNC93B1&submit=Quick%0D%3918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC93B1	rs308328	0.536342	0	0	1	0	0	intronic	intronic	intronic	UNC93B1	UNC93B1	ENSG00000110057	Na	Na	Na	Na	Na	Na	Het;T>C	414;18|16	Hom;T>C	796;0|25
N	N	-	11	68192690	68192690	G	A	snp	synonymous SNV	G3357A	V1119V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LRP5	Lrp5	ENSG00000162337	LDL receptor related protein 5	chr11:68080077-68216743	This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	osteoporosis; obesity; diabetes, type 2; chronic obstructive pulmonary disease; fractures; lung cancer; Bone mineral density (spine); Degenerative arthropathy |Hip Fractures|Osteoarthritis|Osteoarthritis, Hip|Osteoarthritis, Knee|Osteoporosis; bone mineral density; Fractures, Bone|Osteoporosis|Spinal Fractures; Bone Density; Femoral Neck Fractures|Fractures, Stress; Hypercholesterolemia; Alzheimer's disease ; Chronic renal failure|Kidney Failure, Chronic; lung cancer ; Fractures, Bone; Myocardial Infarction; hypertension; Coronary Disease; Metabolic Syndrome X; Arthritis, Rheumatoid|Fractures, Bone; Fractures, Bone|Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; retinopathy; smoking; obesity|Bone Mineral Density; Osteoarthritis; bone density; fracture risk; Femoral Neck Fractures|Fractures, Bone|Osteoporosis, Postmenopausal|Spinal Fractures; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Polycystic Ovary Syndrome; peak bone mass; sex hormones; Bone Mineral Density; Osteoporosis; osteoarthritis; bladder cancer; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; bone density; bone density vitamin D; atherosclerosis; diabetes, type 1; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Homozygous mutants show variable bone loss, decreased osteoblast proliferation, impaired glucose tolerance, increased plasma cholesterol on high-fat diet and persistent embryonic eye vascularization, depending on allelic combination and strain background.	RNF mutants show enhanced WNT signaling and proliferation	GO:0001702;gastrulation with mouth forming second;IEA|GO:0001944;vasculature development;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IMP|GO:0002076;osteoblast development;IEA|GO:0006007;glucose catabolic process;IMP|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0016055;Wnt signaling pathway;IDA|GO:0033690;positive regulation of osteoblast proliferation;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035426;extracellular matrix-cell signaling;IEA|GO:0042074;cell migration involved in gastrulation;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0042733;embryonic digit morphogenesis;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043434;response to peptide hormone;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IDA|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045840;positive regulation of mitotic nuclear division;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046849;bone remodeling;IEA|GO:0046850;regulation of bone remodeling;IEA|GO:0048539;bone marrow development;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0060033;anatomical structure regression;IEA|GO:0060042;retina morphogenesis in camera-type eye;IMP|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060348;bone development;IEA|GO:0060349;bone morphogenesis;IMP|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060612;adipose tissue development;IMP|GO:0060764;cell-cell signaling involved in mammary gland development;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0071901;negative regulation of protein serine/threonine kinase activity;IMP|GO:1902262;apoptotic process involved in blood vessel morphogenesis;IEA|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:1990851;Wnt-Frizzled-LRP5/6 complex;TAS|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IEA|GO:0042813;Wnt-activated receptor activity;IEA|GO:0071936;coreceptor activity involved in Wnt signaling pathway;IPI|GO:1904928;coreceptor activity involved in canonical Wnt signaling pathway;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRP5		https://hpo.jax.org/app/browse/search?q=LRP5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603506	http://www.informatics.jax.org/searchtool/Search.do?query=LRP5&submit=Quick%0D%10675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP5	rs556442	0.579273	0.5265	0.6755	1	0	0	exonic	exonic	exonic	LRP5	LRP5	ENSG00000162337	synonymous SNV	synonymous SNV	unknown	LRP5:NM_002335:exon15:c.G3357A:p.V1119V,LRP5:NM_001291902:exon15:c.G1614A:p.V538V,	LRP5:uc001ont.3:exon15:c.G3357A:p.V1119V,	UNKNOWN	Het;G>A	1146;19|53	Hom;G>A	2642;0|97
N	N	-	11	68331715	68331715	C	G	snp	intronic	 	 	 	 	PPP6R3	Ppp6r3	ENSG00000110075	protein phosphatase 6 regulatory subunit 3	chr11:68228186-68382802	Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]		 	COPII (Coat Protein 2) Mediated Vesicle Transport	GO:0006516;glycoprotein catabolic process;IEA|GO:0043666;regulation of phosphoprotein phosphatase activity;IDA|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP6R3	https://www.uniprot.org/uniprot/Q5H9R7		https://www.ncbi.nlm.nih.gov/omim/?term=610879	http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R3&submit=Quick%0D%3923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R3	rs10501398	0.605831	0	0	1	0	0	intronic	intronic	intronic	PPP6R3	PPP6R3	ENSG00000110075	Na	Na	Na	Na	Na	Na	Het;C>G	310;22|17	Hom;C>G	682;0|19
N	N	-	11	68671280	68671280	G	GCCGCCGCCATCTTC	indel	UTR5	-7157C>GAAGATGGCGGCGGC	 	 	 	MRPL21	Mrpl21	ENSG00000197345	mitochondrial ribosomal protein L21	chr11:68658744-68671303	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial translation termination	GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL21			https://www.ncbi.nlm.nih.gov/omim/?term=611834	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL21&submit=Quick%0D%16599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL21	rs111612765	0.314297	0.2977	0.3173	1	0	0	UTR5	UTR5	UTR5	MRPL21(NM_181515:c.-7157C>GAAGATGGCGGCGGC,NM_181514:c.-2C>GAAGATGGCGGCGGC)	MRPL21(uc001ooh.3:c.-7157C>GAAGATGGCGGCGGC,uc001ooi.3:c.-2C>GAAGATGGCGGCGGC,uc010rqe.1:c.-2C>GAAGATGGCGGCGGC)	ENSG00000197345(ENST00000362034:c.-2C>GAAGATGGCGGCGGC,ENST00000565125:c.-2C>GAAGATGGCGGCGGC,ENST00000541279:c.-2C>GAAGATGGCGGCGGC,ENST00000544567:c.-2C>GAAGATGGCGGCGGC,ENST00000541265:c.-2C>GAAGATGGCGGCGGC)	Na	Na	Na	Na	Na	Na	Het;+CCGCCGCCATCTTC	1070;2|27	Hom;+CCGCCGCCATCTTC	1302;0|27
N	N	-	11	68885278	68885278	G	A	snp	intergenic	 	 	 	 	AP003071.1																		rs7932023	0.333067	0	0	1	0	0	intergenic	intergenic	intergenic	TPCN2(dist=27206),LOC338694(dist=29418)	BC064339(dist=26869),MYEOV(dist=176344)	ENSG00000260895(dist=8716),ENSG00000261070(dist=29418)	Na	Na	Na	Na	Na	Na	Het;G>A	58;4|3	Hom;G>A	130;0|5
N	N	-	11	68989063	68989063	A	G	snp	intergenic	 	 	 	 	AP003071.2																		rs7945227	0.51897	0	0	1	0	0	intergenic	intergenic	intergenic	LOC338694(dist=50033),MYEOV(dist=72542)	BC064339(dist=130654),MYEOV(dist=72559)	ENSG00000261070(dist=50031),ENSG00000172927(dist=72542)	Na	Na	Na	Na	Na	Na	Het;A>G	435;24|22	Hom;A>G	1561;0|60
N	N	-	11	69462642	69462642	G	A	snp	intronic	 	 	 	 	CCND1	Ccnd1	ENSG00000110092	cyclin D1	chr11:69455855-69469242	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]	advanced colorectal cancer; prostatic hyperplasia; prostate cancer; esophageal cancer; Barrett esophagus; gastroesophageal reflux disease; Breast Neoplasms; Brain Neoplasms|Glioma|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Gastritis|Peptic Ulcer|Precancerous Conditions|Stomach Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; benzene haematotoxicity; tumour grade; Cell Transformation, Viral|Nasopharyngeal Neoplasms|Uterine Cervical Neoplasms; Chronic renal failure|Kidney Failure, Chronic; null; Carcinoma, Squamous Cell|Mouth Neoplasms; endometrial cancer; Carcinoma, Squamous Cell|; meningioma; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; leukemia, acute lymphoblastic; esophageal cancer; gastric cardiac cancer; benzene toxicity; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Esophageal Neoplasms|Lung Neoplasms; Fetal Diseases|Hemophilia A; squamous cell carcinoma; prostate cancer; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; squamous cell carcinoma of the head and neck; laryngeal squamous cell carcinoma; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; esophageal cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chromosome Aberrations|DNA Damage; breast and colorectal cancers.; nasopharyngeal cancer; Colorectal Neoplasms; chronic obstructive pulmonary disease; Chronic ulcerative colitis|Colitis, Ulcerative|Colorectal Neoplasms|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; lung cancer; Carcinoma|Prostatic Neoplasms; laryngeal cancer; leukemia; epithelial ovarian cancer ; Leiomyoma|Uterine Neoplasms; oral cancer; Insulin Resistance; breast cancer; colorectal cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|; bladder cancer.; esophageal adenocarcinoma; skin cancer, non-melanoma; urinary bladder cancer; ER negative; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; ovarian cancer; colorectal cancer, nonpolyposis; Kidney Failure, Chronic; esophageal cancer; stomach cancer; Barret's esophagus; head and neck cancer; Uterine Cervical Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms; Pituitary Neoplasms; lymphocytic lymphoma of intermediate differentiation; lung cancer smoking behavior; Bone Mineral Density; bladder cancer; cytogenetic studies; breast cancer; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's|Translocation, Genetic; esophageal cancer; cardiac cancer; hepatocellular carcinoma; hyperparathyroidism; Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; bladder cancer, urinary; bladder cancer; Stomach Neoplasms; Endometrial Neoplasms|; lung cancer ; gastroesophageal cancer; ovarian cancer ; pituitary cancer; cervical cancer; breast cancer ; pharmacogenetic studies; Mouth Neoplasms|Precancerous Conditions; Laryngeal Diseases|Laryngeal Neoplasms|Precancerous Conditions; stomach cancer; Helicobacter Infections|Stomach Neoplasms; gastric carcinoma; upper aerodigestive tract cancer; kidney cancer; Leukoplakia, Oral; liver cancer; chemotherapy toxicity; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; colorectal cancer; lymphoma, non-Hodgkin; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; Mouth Neoplasms	Homozygotes for targeted mutations may exhibit reduced body size and viability, impaired retinal development, pregnancy-insensitive mammary glands, and modified development of mammary cancer induced by neu and ras oncogenes, depending on the specific allele or genetic background.	RUNX3 regulates p14-ARF	GO:0000082;G1/S transition of mitotic cell cycle;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000320;re-entry into mitotic cell cycle;IEA|GO:0001889;liver development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007049;cell cycle;IEA|GO:0007595;lactation;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010033;response to organic substance;IEA|GO:0010039;response to iron ion;IEA|GO:0010165;response to X-ray;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IDA|GO:0014070;response to organic cyclic compound;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030857;negative regulation of epithelial cell differentiation;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IDA|GO:0032026;response to magnesium ion;IEA|GO:0032355;response to estradiol;IEA|GO:0033197;response to vitamin E;IEA|GO:0033327;Leydig cell differentiation;IEA|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0033601;positive regulation of mammary gland epithelial cell proliferation;IEA|GO:0042493;response to drug;IEP|GO:0043627;response to estrogen;IEA|GO:0044321;response to leptin;IDA|GO:0045444;fat cell differentiation;IEA|GO:0045471;response to ethanol;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0045787;positive regulation of cell cycle;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:0048545;response to steroid hormone;IEA|GO:0051301;cell division;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051412;response to corticosterone;IEA|GO:0051592;response to calcium ion;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060749;mammary gland alveolus development;IEA|GO:0070141;response to UV-A;IDA|GO:0071157;negative regulation of cell cycle arrest;IDA|GO:0071310;cellular response to organic substance;IEA|GO:0097421;liver regeneration;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA	GO:0000307;cyclin-dependent protein kinase holoenzyme complex;IDA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0017053;transcriptional repressor complex;IDA	GO:0003714;transcription corepressor activity;IDA|GO:0004672;protein kinase activity;IEA|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016301;kinase activity;IEA|GO:0016538;cyclin-dependent protein serine/threonine kinase regulator activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CCND1	https://www.uniprot.org/uniprot/P24385	https://hpo.jax.org/app/browse/search?q=CCND1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=168461	http://www.informatics.jax.org/searchtool/Search.do?query=CCND1&submit=Quick%0D%3929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCND1	rs602652	0.497804	0	0	1	0	0	intronic	intronic	intronic	CCND1	CCND1	ENSG00000110092	Na	Na	Na	Na	Na	Na	Het;G>A	253;4|9	Hom;G>A	185;0|6
N	N	-	11	69462910	69462910	G	A	snp	synonymous SNV	G723A	P241P	hydrophobic,neutral	hydrophobic,neutral	CCND1	Ccnd1	ENSG00000110092	cyclin D1	chr11:69455855-69469242	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]	advanced colorectal cancer; prostatic hyperplasia; prostate cancer; esophageal cancer; Barrett esophagus; gastroesophageal reflux disease; Breast Neoplasms; Brain Neoplasms|Glioma|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Gastritis|Peptic Ulcer|Precancerous Conditions|Stomach Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; benzene haematotoxicity; tumour grade; Cell Transformation, Viral|Nasopharyngeal Neoplasms|Uterine Cervical Neoplasms; Chronic renal failure|Kidney Failure, Chronic; null; Carcinoma, Squamous Cell|Mouth Neoplasms; endometrial cancer; Carcinoma, Squamous Cell|; meningioma; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; leukemia, acute lymphoblastic; esophageal cancer; gastric cardiac cancer; benzene toxicity; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Esophageal Neoplasms|Lung Neoplasms; Fetal Diseases|Hemophilia A; squamous cell carcinoma; prostate cancer; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; squamous cell carcinoma of the head and neck; laryngeal squamous cell carcinoma; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; esophageal cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chromosome Aberrations|DNA Damage; breast and colorectal cancers.; nasopharyngeal cancer; Colorectal Neoplasms; chronic obstructive pulmonary disease; Chronic ulcerative colitis|Colitis, Ulcerative|Colorectal Neoplasms|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; lung cancer; Carcinoma|Prostatic Neoplasms; laryngeal cancer; leukemia; epithelial ovarian cancer ; Leiomyoma|Uterine Neoplasms; oral cancer; Insulin Resistance; breast cancer; colorectal cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|; bladder cancer.; esophageal adenocarcinoma; skin cancer, non-melanoma; urinary bladder cancer; ER negative; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; ovarian cancer; colorectal cancer, nonpolyposis; Kidney Failure, Chronic; esophageal cancer; stomach cancer; Barret's esophagus; head and neck cancer; Uterine Cervical Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms; Pituitary Neoplasms; lymphocytic lymphoma of intermediate differentiation; lung cancer smoking behavior; Bone Mineral Density; bladder cancer; cytogenetic studies; breast cancer; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's|Translocation, Genetic; esophageal cancer; cardiac cancer; hepatocellular carcinoma; hyperparathyroidism; Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; bladder cancer, urinary; bladder cancer; Stomach Neoplasms; Endometrial Neoplasms|; lung cancer ; gastroesophageal cancer; ovarian cancer ; pituitary cancer; cervical cancer; breast cancer ; pharmacogenetic studies; Mouth Neoplasms|Precancerous Conditions; Laryngeal Diseases|Laryngeal Neoplasms|Precancerous Conditions; stomach cancer; Helicobacter Infections|Stomach Neoplasms; gastric carcinoma; upper aerodigestive tract cancer; kidney cancer; Leukoplakia, Oral; liver cancer; chemotherapy toxicity; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; colorectal cancer; lymphoma, non-Hodgkin; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; Mouth Neoplasms	Homozygotes for targeted mutations may exhibit reduced body size and viability, impaired retinal development, pregnancy-insensitive mammary glands, and modified development of mammary cancer induced by neu and ras oncogenes, depending on the specific allele or genetic background.	RUNX3 regulates p14-ARF	GO:0000082;G1/S transition of mitotic cell cycle;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000320;re-entry into mitotic cell cycle;IEA|GO:0001889;liver development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007049;cell cycle;IEA|GO:0007595;lactation;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010033;response to organic substance;IEA|GO:0010039;response to iron ion;IEA|GO:0010165;response to X-ray;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IDA|GO:0014070;response to organic cyclic compound;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030857;negative regulation of epithelial cell differentiation;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IDA|GO:0032026;response to magnesium ion;IEA|GO:0032355;response to estradiol;IEA|GO:0033197;response to vitamin E;IEA|GO:0033327;Leydig cell differentiation;IEA|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0033601;positive regulation of mammary gland epithelial cell proliferation;IEA|GO:0042493;response to drug;IEP|GO:0043627;response to estrogen;IEA|GO:0044321;response to leptin;IDA|GO:0045444;fat cell differentiation;IEA|GO:0045471;response to ethanol;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0045787;positive regulation of cell cycle;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:0048545;response to steroid hormone;IEA|GO:0051301;cell division;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051412;response to corticosterone;IEA|GO:0051592;response to calcium ion;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060749;mammary gland alveolus development;IEA|GO:0070141;response to UV-A;IDA|GO:0071157;negative regulation of cell cycle arrest;IDA|GO:0071310;cellular response to organic substance;IEA|GO:0097421;liver regeneration;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA	GO:0000307;cyclin-dependent protein kinase holoenzyme complex;IDA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0017053;transcriptional repressor complex;IDA	GO:0003714;transcription corepressor activity;IDA|GO:0004672;protein kinase activity;IEA|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016301;kinase activity;IEA|GO:0016538;cyclin-dependent protein serine/threonine kinase regulator activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CCND1	https://www.uniprot.org/uniprot/P24385	https://hpo.jax.org/app/browse/search?q=CCND1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=168461	http://www.informatics.jax.org/searchtool/Search.do?query=CCND1&submit=Quick%0D%3929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCND1	rs9344	0.413538	0.3867	0.4551	1	0	0	exonic	exonic	exonic	CCND1	CCND1	ENSG00000110092	synonymous SNV	synonymous SNV	unknown	CCND1:NM_053056:exon4:c.G723A:p.P241P,	CCND1:uc001opa.3:exon4:c.G723A:p.P241P,	UNKNOWN	Het;G>A	1768;49|79	Hom;G>A	3783;0|136
N	N	-	11	69910503	69910503	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928443																		rs7927051	0.691294	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928443	FGF3(dist=276311),ANO1(dist=13905)	ENSG00000248844	Na	Na	Na	Na	Na	Na	Het;T>C	851;54|39	Hom;T>C	2917;2|103
N	N	-	11	70200594	70200594	C	T	snp	ncRNA_intronic	 	 	 	 	AP002336.2																		rs7943389	0.936901	0.8771	0.8736	1	0	0	intronic	intronic	ncRNA_intronic	PPFIA1	PPFIA1	ENSG00000254604	Na	Na	Na	Na	Na	Na	Het;C>T	713;48|38	Hom;C>T	2027;0|70
N	N	-	11	7022160	7022160	A	G	snp	nonsynonymous SNV	T754C	C252R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	ZNF214	 	ENSG00000149050	zinc finger protein 214	chr11:7020549-7041599			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF214	https://www.uniprot.org/uniprot/Q9UL59		https://www.ncbi.nlm.nih.gov/omim/?term=605015	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF214&submit=Quick%0D%9185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF214	rs2857919	0.909545	0.8935	0.9512	0.23	3	13	exonic	exonic	exonic	ZNF214	ZNF214	ENSG00000149050	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF214:NM_013249:exon3:c.T754C:p.C252R,	ZNF214:uc010ray.1:exon4:c.T754C:p.C252R,ZNF214:uc001mfa.2:exon3:c.T754C:p.C252R,ZNF214:uc009yfh.1:exon3:c.T754C:p.C252R,	UNKNOWN	Het;A>G	1517;58|69	Hom;A>G	3975;0|138
N	N	-	11	7022531	7022531	A	T	snp	nonsynonymous SNV	T383A	L128H	aliphatic,hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	ZNF214	 	ENSG00000149050	zinc finger protein 214	chr11:7020549-7041599			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF214	https://www.uniprot.org/uniprot/Q9UL59		https://www.ncbi.nlm.nih.gov/omim/?term=605015	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF214&submit=Quick%0D%9185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF214	rs1156525	0.575679	0.5546	0.6266	0.08	1	13	exonic	exonic	exonic	ZNF214	ZNF214	ENSG00000149050	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF214:NM_013249:exon3:c.T383A:p.L128H,	ZNF214:uc010ray.1:exon4:c.T383A:p.L128H,ZNF214:uc001mfa.2:exon3:c.T383A:p.L128H,ZNF214:uc009yfh.1:exon3:c.T383A:p.L128H,	UNKNOWN	Het;A>T	1182;44|54	Hom;A>T	3265;0|119
N	N	-	11	7022717	7022717	T	C	snp	nonsynonymous SNV	A197G	Y66C	aromatic,polar,hydrophobic	polar,hydrophobic,neutral	ZNF214	 	ENSG00000149050	zinc finger protein 214	chr11:7020549-7041599			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF214	https://www.uniprot.org/uniprot/Q9UL59		https://www.ncbi.nlm.nih.gov/omim/?term=605015	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF214&submit=Quick%0D%9185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF214	rs1156526	0.592652	0.5500	0.6323	0.08	1	13	exonic	exonic	exonic	ZNF214	ZNF214	ENSG00000149050	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF214:NM_013249:exon3:c.A197G:p.Y66C,	ZNF214:uc010ray.1:exon4:c.A197G:p.Y66C,ZNF214:uc001mfa.2:exon3:c.A197G:p.Y66C,ZNF214:uc009yfh.1:exon3:c.A197G:p.Y66C,	UNKNOWN	Het;T>C	641;38|30	Hom;T>C	2120;0|73
N	N	-	11	70507605	70507637	TACACACACACACACACACACACACACACACAC	T	indel	intronic	 	 	 	 	SHANK2	Shank2	ENSG00000162105	SH3 and multiple ankyrin repeat domains 2	chr11:70313961-70963623	This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Body Fat Distribution; autism; Creatinine; Blood Pressure	Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping.	Neurexins and neuroligins	GO:0007416;synapse assembly;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0030534;adult behavior;IEA|GO:0035176;social behavior;IEA|GO:0035640;exploration behavior;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060292;long term synaptic depression;IEA|GO:0071625;vocalization behavior;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;IEA|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;IEA|GO:0031526;brush border membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060170;ciliary membrane;ISS	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030160;GKAP/Homer scaffold activity;NAS|GO:0035255;ionotropic glutamate receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHANK2			https://www.ncbi.nlm.nih.gov/omim/?term=603290	http://www.informatics.jax.org/searchtool/Search.do?query=SHANK2&submit=Quick%0D%10656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK2	rs10522920	0	0	0	1	0	0	intronic	intronic	intronic	SHANK2	BC127192,SHANK2	ENSG00000162105	Na	Na	Na	Na	Na	Na	Het;-ACACACACACACACACACACACACACACACAC	325;4|10	Hom;-ACACACACACACACACACACACACACACACAC	655;2|16
N	N	-	11	70508553	70508553	T	G	snp	intronic	 	 	 	 	SHANK2	Shank2	ENSG00000162105	SH3 and multiple ankyrin repeat domains 2	chr11:70313961-70963623	This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Body Fat Distribution; autism; Creatinine; Blood Pressure	Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping.	Neurexins and neuroligins	GO:0007416;synapse assembly;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0030534;adult behavior;IEA|GO:0035176;social behavior;IEA|GO:0035640;exploration behavior;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060292;long term synaptic depression;IEA|GO:0071625;vocalization behavior;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;IEA|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;IEA|GO:0031526;brush border membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060170;ciliary membrane;ISS	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030160;GKAP/Homer scaffold activity;NAS|GO:0035255;ionotropic glutamate receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHANK2			https://www.ncbi.nlm.nih.gov/omim/?term=603290	http://www.informatics.jax.org/searchtool/Search.do?query=SHANK2&submit=Quick%0D%10656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK2	rs2509835	0.334065	0	0	1	0	0	intronic	intronic	intronic	SHANK2	SHANK2	ENSG00000162105	Na	Na	Na	Na	Na	Na	Het;T>G	317;20|16	Hom;T>G	605;0|23
N	N	-	11	70544937	70544937	A	G	snp	intronic	 	 	 	 	SHANK2	Shank2	ENSG00000162105	SH3 and multiple ankyrin repeat domains 2	chr11:70313961-70963623	This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Body Fat Distribution; autism; Creatinine; Blood Pressure	Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping.	Neurexins and neuroligins	GO:0007416;synapse assembly;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0030534;adult behavior;IEA|GO:0035176;social behavior;IEA|GO:0035640;exploration behavior;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060292;long term synaptic depression;IEA|GO:0071625;vocalization behavior;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;IEA|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;IEA|GO:0031526;brush border membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060170;ciliary membrane;ISS	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030160;GKAP/Homer scaffold activity;NAS|GO:0035255;ionotropic glutamate receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHANK2			https://www.ncbi.nlm.nih.gov/omim/?term=603290	http://www.informatics.jax.org/searchtool/Search.do?query=SHANK2&submit=Quick%0D%10656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK2	rs7117514	0.296925	0	0	1	0	0	intronic	intronic	intronic	SHANK2	SHANK2	ENSG00000162105	Na	Na	Na	Na	Na	Na	Het;A>G	283;18|14	Hom;A>G	683;0|25
N	N	-	11	7060236	7060237	TG	T	indel	intronic	 	 	 	 	NLRP14	Nlrp14	ENSG00000158077	NLR family pyrin domain containing 14	chr11:7041677-7092539	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease|Crohn's disease	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP14	https://www.uniprot.org/uniprot/Q86W24		https://www.ncbi.nlm.nih.gov/omim/?term=609665	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP14&submit=Quick%0D%191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP14	rs11288450	0.636382	0	0	1	0	0	intronic	intronic	intronic	NLRP14	NLRP14	ENSG00000158077	Na	Na	Na	Na	Na	Na	Het;-G	198;9|7	Hom;-G	284;0|8
N	N	-	11	7070866	7070866	G	A	snp	intronic	 	 	 	 	NLRP14	Nlrp14	ENSG00000158077	NLR family pyrin domain containing 14	chr11:7041677-7092539	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease|Crohn's disease	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP14	https://www.uniprot.org/uniprot/Q86W24		https://www.ncbi.nlm.nih.gov/omim/?term=609665	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP14&submit=Quick%0D%191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP14	rs1552727	0.640775	0.5389	0.6392	1	0	0	intronic	intronic	intronic	NLRP14	NLRP14	ENSG00000158077	Na	Na	Na	Na	Na	Na	Het;G>A	296;9|13	Hom;G>A	518;0|17
N	N	-	11	70785166	70785167	CA	C	indel	intronic	 	 	 	 	SHANK2	Shank2	ENSG00000162105	SH3 and multiple ankyrin repeat domains 2	chr11:70313961-70963623	This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Body Fat Distribution; autism; Creatinine; Blood Pressure	Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping.	Neurexins and neuroligins	GO:0007416;synapse assembly;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0030534;adult behavior;IEA|GO:0035176;social behavior;IEA|GO:0035640;exploration behavior;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060292;long term synaptic depression;IEA|GO:0071625;vocalization behavior;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;IEA|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;IEA|GO:0031526;brush border membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060170;ciliary membrane;ISS	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030160;GKAP/Homer scaffold activity;NAS|GO:0035255;ionotropic glutamate receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHANK2			https://www.ncbi.nlm.nih.gov/omim/?term=603290	http://www.informatics.jax.org/searchtool/Search.do?query=SHANK2&submit=Quick%0D%10656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK2	rs35401655	0.354832	0	0	1	0	0	intronic	intronic	intronic	SHANK2	SHANK2	ENSG00000162105	Na	Na	Na	Na	Na	Na	Het;-A	87;2|4	Hom;-A	142;0|5
N	N	-	11	7079038	7079038	G	A	snp	nonsynonymous SNV	G2422A	E808K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	NLRP14	Nlrp14	ENSG00000158077	NLR family pyrin domain containing 14	chr11:7041677-7092539	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease|Crohn's disease	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP14	https://www.uniprot.org/uniprot/Q86W24		https://www.ncbi.nlm.nih.gov/omim/?term=609665	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP14&submit=Quick%0D%191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP14	rs10839708	0.565895	0.5112	0.6051	0.46	6	13	exonic	exonic	exonic	NLRP14	NLRP14	ENSG00000158077	nonsynonymous SNV	nonsynonymous SNV	unknown	NLRP14:NM_176822:exon7:c.G2422A:p.E808K,	NLRP14:uc001mfb.1:exon7:c.G2422A:p.E808K,	UNKNOWN	Het;G>A	1238;74|66	Hom;G>A	2820;0|105
N	N	-	11	7091772	7091772	C	A	snp	intronic	 	 	 	 	NLRP14	Nlrp14	ENSG00000158077	NLR family pyrin domain containing 14	chr11:7041677-7092539	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease|Crohn's disease	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP14	https://www.uniprot.org/uniprot/Q86W24		https://www.ncbi.nlm.nih.gov/omim/?term=609665	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP14&submit=Quick%0D%191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP14	rs10769763	0.714257	0	0	1	0	0	intronic	intronic	intronic	NLRP14	NLRP14	ENSG00000158077	Na	Na	Na	Na	Na	Na	Het;C>A	604;27|29	Hom;C>A	1530;0|57
N	N	-	11	71614696	71614697	CT	C	indel	ncRNA_exonic	 	 	 	 	OR7E126P																		rs398016592	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	LOC100133315	LOC100133315	ENSG00000254593	Na	Na	Na	Na	Na	Na	Het;-T	684;18|45	Hom;-T	852;2|42
N	N	-	11	71883540	71883540	G	A	snp	ncRNA_exonic	 	 	 	 	AP000812.2																		rs633738	0.916134	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FOLR3(dist=32606),FOLR1(dist=17062)	FOLR3(dist=32606),FOLR1(dist=17062)	ENSG00000255860	Na	Na	Na	Na	Na	Na	Het;G>A	2666;13|115	Hom;G>A	2193;0|81
N	N	-	11	720197	720197	C	T	snp	synonymous SNV	C301T	L101L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EPS8L2	Eps8l2	ENSG00000177106	EPS8 like 2	chr11:694438-727727	This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]	Inflammatory Bowel Diseases; Body Weight	Mice homozygous for a null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles.		GO:0007266;Rho protein signal transduction;IDA|GO:0035023;regulation of Rho protein signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1900029;positive regulation of ruffle assembly;IGI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IDA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EPS8L2		https://hpo.jax.org/app/browse/search?q=EPS8L2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614988	http://www.informatics.jax.org/searchtool/Search.do?query=EPS8L2&submit=Quick%0D%13970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPS8L2	rs3087546	0.491813	0.5688	0.5451	1	0	0	exonic	exonic	exonic	EPS8L2	EPS8L2	ENSG00000177106	synonymous SNV	synonymous SNV	unknown	EPS8L2:NM_022772:exon5:c.C301T:p.L101L,	EPS8L2:uc001lqt.3:exon5:c.C301T:p.L101L,EPS8L2:uc010qwj.1:exon5:c.C301T:p.L101L,EPS8L2:uc001lqu.3:exon5:c.C301T:p.L101L,EPS8L2:uc010qwk.2:exon4:c.C301T:p.L101L,EPS8L2:uc001lqv.3:exon2:c.C166T:p.L56L,	UNKNOWN	Het;C>T	1300;66|64	Hom;C>T	2187;0|83
N	N	-	11	72289291	72289291	T	C	snp	synonymous SNV	A2601G	A867A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDE2A	Pde2a	ENSG00000186642	phosphodiesterase 2A	chr11:72287185-72385635		Arthritis, Rheumatoid; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age.	G alpha (s) signalling events	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006198;cAMP catabolic process;IDA|GO:0006626;protein targeting to mitochondrion;ISS|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IDA|GO:0019933;cAMP-mediated signaling;IMP|GO:0019934;cGMP-mediated signaling;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0033159;negative regulation of protein import into nucleus, translocation;IDA|GO:0035690;cellular response to drug;IMP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0043116;negative regulation of vascular permeability;IMP|GO:0043117;positive regulation of vascular permeability;IMP|GO:0046069;cGMP catabolic process;IDA|GO:0050729;positive regulation of inflammatory response;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071260;cellular response to mechanical stimulus;ISS|GO:0071321;cellular response to cGMP;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IDA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IMP|GO:0030553;cGMP binding;IDA|GO:0030911;TPR domain binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE2A			https://www.ncbi.nlm.nih.gov/omim/?term=602658	http://www.informatics.jax.org/searchtool/Search.do?query=PDE2A&submit=Quick%0D%15685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE2A	rs1135029	0.298323	0.4141	0.4322	1	0	0	exonic	exonic	exonic	PDE2A	PDE2A	ENSG00000186642	synonymous SNV	synonymous SNV	unknown	PDE2A:NM_001143839:exon29:c.A2580G:p.A860A,PDE2A:NM_001243784:exon30:c.A2538G:p.A846A,PDE2A:NM_002599:exon30:c.A2601G:p.A867A,PDE2A:NM_001146209:exon31:c.A2574G:p.A858A,	PDE2A:uc010rrc.2:exon30:c.A2601G:p.A867A,PDE2A:uc001osn.3:exon20:c.A1833G:p.A611A,PDE2A:uc001oso.3:exon30:c.A2538G:p.A846A,PDE2A:uc010rrd.2:exon26:c.A2256G:p.A752A,PDE2A:uc010rrb.2:exon31:c.A2574G:p.A858A,PDE2A:uc010rra.2:exon29:c.A2580G:p.A860A,	UNKNOWN	Het;T>C	1450;32|64	Hom;T>C	2463;0|88
N	N	-	11	72291477	72291477	G	A	snp	intronic	 	 	 	 	PDE2A	Pde2a	ENSG00000186642	phosphodiesterase 2A	chr11:72287185-72385635		Arthritis, Rheumatoid; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age.	G alpha (s) signalling events	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006198;cAMP catabolic process;IDA|GO:0006626;protein targeting to mitochondrion;ISS|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IDA|GO:0019933;cAMP-mediated signaling;IMP|GO:0019934;cGMP-mediated signaling;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0033159;negative regulation of protein import into nucleus, translocation;IDA|GO:0035690;cellular response to drug;IMP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0043116;negative regulation of vascular permeability;IMP|GO:0043117;positive regulation of vascular permeability;IMP|GO:0046069;cGMP catabolic process;IDA|GO:0050729;positive regulation of inflammatory response;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071260;cellular response to mechanical stimulus;ISS|GO:0071321;cellular response to cGMP;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IDA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IMP|GO:0030553;cGMP binding;IDA|GO:0030911;TPR domain binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE2A			https://www.ncbi.nlm.nih.gov/omim/?term=602658	http://www.informatics.jax.org/searchtool/Search.do?query=PDE2A&submit=Quick%0D%15685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE2A	rs56350365	0.291134	0	0	1	0	0	intronic	intronic	intronic	PDE2A	PDE2A	ENSG00000186642	Na	Na	Na	Na	Na	Na	Het;G>A	121;1|5	Hom;G>A	125;0|5
N	N	-	11	72292631	72292631	C	A	snp	intronic	 	 	 	 	PDE2A	Pde2a	ENSG00000186642	phosphodiesterase 2A	chr11:72287185-72385635		Arthritis, Rheumatoid; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age.	G alpha (s) signalling events	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006198;cAMP catabolic process;IDA|GO:0006626;protein targeting to mitochondrion;ISS|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IDA|GO:0019933;cAMP-mediated signaling;IMP|GO:0019934;cGMP-mediated signaling;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0033159;negative regulation of protein import into nucleus, translocation;IDA|GO:0035690;cellular response to drug;IMP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0043116;negative regulation of vascular permeability;IMP|GO:0043117;positive regulation of vascular permeability;IMP|GO:0046069;cGMP catabolic process;IDA|GO:0050729;positive regulation of inflammatory response;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071260;cellular response to mechanical stimulus;ISS|GO:0071321;cellular response to cGMP;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IDA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IMP|GO:0030553;cGMP binding;IDA|GO:0030911;TPR domain binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE2A			https://www.ncbi.nlm.nih.gov/omim/?term=602658	http://www.informatics.jax.org/searchtool/Search.do?query=PDE2A&submit=Quick%0D%15685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE2A	rs399874	0.674521	0	0	1	0	0	intronic	intronic	intronic	PDE2A	PDE2A	ENSG00000186642	Na	Na	Na	Na	Na	Na	Het;C>A	203;12|9	Hom;C>A	531;0|18
N	N	-	11	72292860	72292860	C	T	snp	intronic	 	 	 	 	PDE2A	Pde2a	ENSG00000186642	phosphodiesterase 2A	chr11:72287185-72385635		Arthritis, Rheumatoid; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age.	G alpha (s) signalling events	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006198;cAMP catabolic process;IDA|GO:0006626;protein targeting to mitochondrion;ISS|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IDA|GO:0019933;cAMP-mediated signaling;IMP|GO:0019934;cGMP-mediated signaling;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0033159;negative regulation of protein import into nucleus, translocation;IDA|GO:0035690;cellular response to drug;IMP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0043116;negative regulation of vascular permeability;IMP|GO:0043117;positive regulation of vascular permeability;IMP|GO:0046069;cGMP catabolic process;IDA|GO:0050729;positive regulation of inflammatory response;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071260;cellular response to mechanical stimulus;ISS|GO:0071321;cellular response to cGMP;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IDA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IMP|GO:0030553;cGMP binding;IDA|GO:0030911;TPR domain binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE2A			https://www.ncbi.nlm.nih.gov/omim/?term=602658	http://www.informatics.jax.org/searchtool/Search.do?query=PDE2A&submit=Quick%0D%15685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE2A	rs376724	0.674121	0.7891	0	1	0	0	intronic	intronic	intronic	PDE2A	PDE2A	ENSG00000186642	Na	Na	Na	Na	Na	Na	Het;C>T	298;24|17	Hom;C>T	503;0|21
N	N	-	11	72296039	72296039	G	T	snp	ncRNA_exonic	 	 	 	 	AP005019.1																		rs907850	0.313898	0.4285	0.4287	1	0	0	intronic	intronic	ncRNA_exonic	PDE2A	PDE2A	ENSG00000256633	Na	Na	Na	Na	Na	Na	Het;G>T	751;46|38	Hom;G>T	1979;0|71
N	N	-	11	72337036	72337036	A	C	snp	intronic	 	 	 	 	PDE2A	Pde2a	ENSG00000186642	phosphodiesterase 2A	chr11:72287185-72385635		Arthritis, Rheumatoid; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age.	G alpha (s) signalling events	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006198;cAMP catabolic process;IDA|GO:0006626;protein targeting to mitochondrion;ISS|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IDA|GO:0019933;cAMP-mediated signaling;IMP|GO:0019934;cGMP-mediated signaling;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0033159;negative regulation of protein import into nucleus, translocation;IDA|GO:0035690;cellular response to drug;IMP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0043116;negative regulation of vascular permeability;IMP|GO:0043117;positive regulation of vascular permeability;IMP|GO:0046069;cGMP catabolic process;IDA|GO:0050729;positive regulation of inflammatory response;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071260;cellular response to mechanical stimulus;ISS|GO:0071321;cellular response to cGMP;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IDA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IMP|GO:0030553;cGMP binding;IDA|GO:0030911;TPR domain binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE2A			https://www.ncbi.nlm.nih.gov/omim/?term=602658	http://www.informatics.jax.org/searchtool/Search.do?query=PDE2A&submit=Quick%0D%15685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE2A	rs676845	0.523562	0	0	1	0	0	intronic	intronic	intronic	PDE2A	PDE2A	ENSG00000186642	Na	Na	Na	Na	Na	Na	Het;A>C	73;2|4	Hom;A>C	445;0|17
N	N	-	11	74340196	74340196	A	G	snp	intronic	 	 	 	 	POLD3	Pold3	ENSG00000077514	DNA polymerase delta 3, accessory subunit	chr11:74204896-74380162	This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]	bladder cancer	Mice homozygous for a knock-out allele exhibit embryonic lethality between E4.5 and E7.5 due to failure of proliferation of the inner cell mass and trophoblast giant cells. Mice heterozygous for this allele exhibit age-related decreased male germ cells due to impaired meiosis, shortened telomeres and chromosomal instability.	Processive synthesis on the lagging strand	GO:0000722;telomere maintenance via recombination;TAS|GO:0000723;telomere maintenance;TAS|GO:0000731;DNA synthesis involved in DNA repair;NAS|GO:0006260;DNA replication;IEA|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006266;DNA ligation;TAS|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0006298;mismatch repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0019985;translesion synthesis;TAS|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0042769;DNA damage response, detection of DNA damage;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043625;delta DNA polymerase complex;NAS	GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/POLD3	https://www.uniprot.org/uniprot/Q15054		https://www.ncbi.nlm.nih.gov/omim/?term=611415	http://www.informatics.jax.org/searchtool/Search.do?query=POLD3&submit=Quick%0D%1628ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLD3	rs2298792	0.344449	0	0	1	0	0	intronic	intronic	intronic	POLD3	POLD3	ENSG00000077514	Na	Na	Na	Na	Na	Na	Het;A>G	893;57|40	Hom;A>G	2256;0|78
N	N	-	11	74345550	74345550	T	G	snp	intronic	 	 	 	 	POLD3	Pold3	ENSG00000077514	DNA polymerase delta 3, accessory subunit	chr11:74204896-74380162	This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]	bladder cancer	Mice homozygous for a knock-out allele exhibit embryonic lethality between E4.5 and E7.5 due to failure of proliferation of the inner cell mass and trophoblast giant cells. Mice heterozygous for this allele exhibit age-related decreased male germ cells due to impaired meiosis, shortened telomeres and chromosomal instability.	Processive synthesis on the lagging strand	GO:0000722;telomere maintenance via recombination;TAS|GO:0000723;telomere maintenance;TAS|GO:0000731;DNA synthesis involved in DNA repair;NAS|GO:0006260;DNA replication;IEA|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006266;DNA ligation;TAS|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0006298;mismatch repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0019985;translesion synthesis;TAS|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0042769;DNA damage response, detection of DNA damage;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043625;delta DNA polymerase complex;NAS	GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/POLD3	https://www.uniprot.org/uniprot/Q15054		https://www.ncbi.nlm.nih.gov/omim/?term=611415	http://www.informatics.jax.org/searchtool/Search.do?query=POLD3&submit=Quick%0D%1628ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLD3	rs3824999	0.326877	0	0	1	0	0	intronic	intronic	intronic	POLD3	POLD3	ENSG00000077514	Na	Na	Na	Na	Na	Na	Het;T>G	105;13|7	Hom;T>G	824;0|30
N	N	-	11	74877004	74877004	G	A	snp	intronic	 	 	 	 	SLCO2B1	Slco2b1	ENSG00000137491	solute carrier organic anion transporter family member 2B1	chr11:74811608-74917594	This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]	null; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; Chronic renal failure|Kidney Failure, Chronic; drug-related genes 	 	Transport of organic anions	GO:0001889;liver development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015721;bile acid and bile salt transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0071718;sodium-independent icosanoid transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IDA|GO:0015125;bile acid transmembrane transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO2B1	https://www.uniprot.org/uniprot/O94956		https://www.ncbi.nlm.nih.gov/omim/?term=604988	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO2B1&submit=Quick%0D%7547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO2B1	rs3740839	0.299521	0.2050	0.2511	1	0	0	intronic	intronic	intronic	SLCO2B1	SLCO2B1	ENSG00000137491	Na	Na	Na	Na	Na	Na	Het;G>A	871;54|45	Hom;G>A	2798;0|109
N	N	-	11	74880856	74880856	C	A	snp	UTR3	*12C>A	 	 	 	SLCO2B1	Slco2b1	ENSG00000137491	solute carrier organic anion transporter family member 2B1	chr11:74811608-74917594	This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]	null; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; Chronic renal failure|Kidney Failure, Chronic; drug-related genes 	 	Transport of organic anions	GO:0001889;liver development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015721;bile acid and bile salt transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0071718;sodium-independent icosanoid transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IDA|GO:0015125;bile acid transmembrane transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO2B1	https://www.uniprot.org/uniprot/O94956		https://www.ncbi.nlm.nih.gov/omim/?term=604988	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO2B1&submit=Quick%0D%7547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO2B1	rs7125268	0.357428	0.2790	0.2901	1	0	0	intronic	intronic	UTR3	SLCO2B1	SLCO2B1	ENSG00000137491(ENST00000526839:c.*12C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	66;12|4	Hom;C>A	615;0|24
N	N	-	11	74994352	74994352	G	A	snp	synonymous SNV	C333T	H111H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ARRB1	Arrb1	ENSG00000137486	arrestin beta 1	chr11:74975226-75062873	Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]	bronchodilator response; nicotine dependence; Tobacco Use Disorder; Bone Mineral Density	Homozygotes for targeted null mutations exhibit impaired quenching of rod photocurrent flash responses and greater sensitivity to beta-receptor agonist-stimulated ventricular ejection fraction.	Clathrin-mediated endocytosis	GO:0000187;activation of MAPK activity;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002031;G-protein coupled receptor internalization;IMP|GO:0002092;positive regulation of receptor internalization;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IMP|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0015031;protein transport;IEA|GO:0016567;protein ubiquitination;IMP|GO:0030168;platelet activation;TAS|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0031398;positive regulation of protein ubiquitination;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032092;positive regulation of protein binding;IEA|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032717;negative regulation of interleukin-8 production;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IMP|GO:0035066;positive regulation of histone acetylation;IMP|GO:0035774;positive regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0042493;response to drug;IEA|GO:0042699;follicle-stimulating hormone signaling pathway;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043149;stress fiber assembly;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0061024;membrane organization;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0090240;positive regulation of histone H4 acetylation;IMP	GO:0000139;Golgi membrane;TAS|GO:0000785;chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005829;cytosol;TAS|GO:0005834;heterotrimeric G-protein complex;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016604;nuclear body;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031143;pseudopodium;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004857;enzyme inhibitor activity;TAS|GO:0005096;GTPase activator activity;IMP|GO:0005159;insulin-like growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0030331;estrogen receptor binding;IEA|GO:0031434;mitogen-activated protein kinase kinase binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0031691;alpha-1A adrenergic receptor binding;IEA|GO:0031692;alpha-1B adrenergic receptor binding;IEA|GO:0031701;angiotensin receptor binding;IPI|GO:0031762;follicle-stimulating hormone receptor binding;IEA|GO:0031896;V2 vasopressin receptor binding;IEA|GO:0035612;AP-2 adaptor complex binding;IEA|GO:0035615;clathrin adaptor activity;IEA|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IEA|GO:0044212;transcription regulatory region DNA binding;IMP|GO:0044325;ion channel binding;IEA|GO:0045309;protein phosphorylated amino acid binding;IEA|GO:0051219;phosphoprotein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARRB1	https://www.uniprot.org/uniprot/P49407		https://www.ncbi.nlm.nih.gov/omim/?term=107940	http://www.informatics.jax.org/searchtool/Search.do?query=ARRB1&submit=Quick%0D%7546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARRB1	rs877711	0.164537	0.1335	0.1478	1	0	0	exonic	exonic	exonic	ARRB1	ARRB1	ENSG00000137486	synonymous SNV	synonymous SNV	unknown	ARRB1:NM_020251:exon5:c.C333T:p.H111H,ARRB1:NM_004041:exon5:c.C333T:p.H111H,	ARRB1:uc001owf.2:exon5:c.C333T:p.H111H,ARRB1:uc001owe.2:exon5:c.C333T:p.H111H,	UNKNOWN	Het;G>A	413;28|21	Hom;G>A	1324;0|51
N	N	-	11	75146384	75146384	A	G	snp	UTR3	*168T>C	 	 	 	GDPD5	Gdpd5	ENSG00000158555	glycerophosphodiester phosphodiesterase domain containing 5	chr11:75145685-75236948	Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]		Mice homozygous for a knock-out allele exhibit impaired motor neuron differentiation.	Glycerophospholipid catabolism	GO:0006629;lipid metabolic process;IEA|GO:0007399;nervous system development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0045787;positive regulation of cell cycle;IEA|GO:0048505;regulation of timing of cell differentiation;IEA	GO:0005737;cytoplasm;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0097038;perinuclear endoplasmic reticulum;IEA	GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008889;glycerophosphodiester phosphodiesterase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0047389;glycerophosphocholine phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GDPD5			https://www.ncbi.nlm.nih.gov/omim/?term=609632	http://www.informatics.jax.org/searchtool/Search.do?query=GDPD5&submit=Quick%0D%10226ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GDPD5	rs1043638	0.54393	0	0	1	0	0	UTR3	UTR3	UTR3	GDPD5(NM_030792:c.*168T>C)	GDPD5(uc001own.4:c.*168T>C,uc009yuc.3:c.*168T>C,uc009yud.3:c.*168T>C,uc001owo.4:c.*168T>C,uc001owp.4:c.*168T>C)	ENSG00000158555(ENST00000336898:c.*168T>C,ENST00000529721:c.*168T>C,ENST00000533784:c.*168T>C,ENST00000527820:c.*1884T>C,ENST00000526177:c.*168T>C,ENST00000443276:c.*1884T>C,ENST00000376282:c.*168T>C,ENST00000533805:c.*168T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	73;4|3	Hom;A>G	250;0|7
N	N	-	11	76302067	76302067	C	A	snp	ncRNA_exonic	 	 	 	 	AP001189.2																		rs7931483	0.450879	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C11orf30(dist=38124),LRRC32(dist=66501)	C11orf30(dist=39478),LRRC32(dist=66501)	ENSG00000254755	Na	Na	Na	Na	Na	Na	Het;C>A	134;2|4	Hom;C>A	422;0|10
N	N	-	11	76302073	76302073	G	A	snp	ncRNA_exonic	 	 	 	 	AP001189.2																		rs7930763	0.538538	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C11orf30(dist=38130),LRRC32(dist=66495)	C11orf30(dist=39484),LRRC32(dist=66495)	ENSG00000254755	Na	Na	Na	Na	Na	Na	Het;G>A	134;2|4	Hom;G>A	447;0|11
N	N	-	11	76418737	76418737	A	G	snp	upstream	 	 	 	 	GUCY2EP																		rs2120898	0.545527	0	0.6561	1	0	0	ncRNA_intronic	intronic	upstream	GUCY2EP	GUCY2EP	ENSG00000204529	Na	Na	Na	Na	Na	Na	Het;A>G	432;34|22	Hom;A>G	1796;0|64
N	N	-	11	76428055	76428055	A	G	snp	ncRNA_intronic	 	 	 	 	GUCY2EP																		rs4944119	0.710264	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	GUCY2EP	GUCY2EP	ENSG00000254761	Na	Na	Na	Na	Na	Na	Het;A>G	221;2|8	Hom;A>G	60;0|3
N	N	-	11	77811990	77811990	T	C	snp	UTR3	*20A>G	 	 	 	ALG8	Alg8	ENSG00000159063	ALG8, alpha-1,3-glucosyltransferase	chr11:77811982-77850706	This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;IEA|GO:0006487;protein N-linked glycosylation;IMP|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0006490;oligosaccharide-lipid intermediate biosynthetic process;IBA|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000033;alpha-1,3-mannosyltransferase activity;IMP|GO:0004583;dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0042281;dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ALG8		https://hpo.jax.org/app/browse/search?q=ALG8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608103	http://www.informatics.jax.org/searchtool/Search.do?query=ALG8&submit=Quick%0D%10278ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG8	rs1263505	0.832668	0.8804	0.8319	1	0	0	ncRNA_intronic	UTR3	UTR3	RNU6-83P	ALG8(uc001oyz.1:c.*272A>G,uc001oza.1:c.*20A>G)	ENSG00000159063(ENST00000530608:c.*20A>G,ENST00000299626:c.*20A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1195;59|57	Hom;T>C	2134;0|72
N	N	-	11	78381678	78381678	C	T	snp	intronic	 	 	 	 	TENM4	Tenm4	ENSG00000149256	teneurin transmembrane protein 4	chr11:78363876-79151992	The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]	Iron; Body Height; Kidney Diseases; Blood Pressure; Thyrotropin; Diabetes Mellitus; Glomerular Filtration Rate; Respiratory Function Tests; HIV-1; Electrocardiography; Pulse; Bipolar Disorder; Calcium; Tumor Necrosis Factor-alpha; Asthma; Tobacco Use Disorder; Echocardiography; Glucose; Cardiovascular Diseases; CD40 Ligand; Stroke; Body Weight; Fibrinogen; Heart Rate; Bone Density; Neuropsychological Tests; Body Mass Index; Uric Acid; Hip; Cholesterol; Tissue Plasminogen Activator; Body Weights and Measures; Follicle Stimulating Hormone; Cholesterol, LDL; Waist Circumference; Heart Failure; Alzheimer Disease; Hypertension	Various ENU-induced alleles cause prenatal lethality associated with impaired mesoderm development and lead to pleiotropic phenotypes. The most severe alleles cause failure of gastrulation and somitogenesis while the least severe one allows survival to adulthood with runting of variable penetrance.		GO:0001702;gastrulation with mouth forming second;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0031641;regulation of myelination;IMP|GO:0031643;positive regulation of myelination;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0048666;neuron development;IMP|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060912;cardiac cell fate specification;IEA|GO:0097264;self proteolysis;IEA|GO:2000543;positive regulation of gastrulation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA	GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TENM4	https://www.uniprot.org/uniprot/Q6N022	https://hpo.jax.org/app/browse/search?q=TENM4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610084	http://www.informatics.jax.org/searchtool/Search.do?query=TENM4&submit=Quick%0D%9208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM4	rs7938204	0.53155	0	0	1	0	0	intronic	intronic	intronic	TENM4	TENM4	ENSG00000149256	Na	Na	Na	Na	Na	Na	Het;C>T	230;12|13	Hom;C>T	896;0|32
N	N	-	11	7872280	7872283	TTTG	T	indel	downstream	 	 	 	 	LOC283299																		rs143900691	0.678914	0	0	1	0	0	downstream	downstream	ncRNA_intronic	LOC283299	LOC283299	ENSG00000254951,ENSG00000271758	Na	Na	Na	Na	Na	Na	Het;-TTG	322;2|16	Hom;-TTG	1881;0|44
N	N	-	11	78831017	78831017	G	A	snp	intronic	 	 	 	 	TENM4	Tenm4	ENSG00000149256	teneurin transmembrane protein 4	chr11:78363876-79151992	The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]	Iron; Body Height; Kidney Diseases; Blood Pressure; Thyrotropin; Diabetes Mellitus; Glomerular Filtration Rate; Respiratory Function Tests; HIV-1; Electrocardiography; Pulse; Bipolar Disorder; Calcium; Tumor Necrosis Factor-alpha; Asthma; Tobacco Use Disorder; Echocardiography; Glucose; Cardiovascular Diseases; CD40 Ligand; Stroke; Body Weight; Fibrinogen; Heart Rate; Bone Density; Neuropsychological Tests; Body Mass Index; Uric Acid; Hip; Cholesterol; Tissue Plasminogen Activator; Body Weights and Measures; Follicle Stimulating Hormone; Cholesterol, LDL; Waist Circumference; Heart Failure; Alzheimer Disease; Hypertension	Various ENU-induced alleles cause prenatal lethality associated with impaired mesoderm development and lead to pleiotropic phenotypes. The most severe alleles cause failure of gastrulation and somitogenesis while the least severe one allows survival to adulthood with runting of variable penetrance.		GO:0001702;gastrulation with mouth forming second;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0031641;regulation of myelination;IMP|GO:0031643;positive regulation of myelination;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0048666;neuron development;IMP|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060912;cardiac cell fate specification;IEA|GO:0097264;self proteolysis;IEA|GO:2000543;positive regulation of gastrulation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA	GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TENM4	https://www.uniprot.org/uniprot/Q6N022	https://hpo.jax.org/app/browse/search?q=TENM4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610084	http://www.informatics.jax.org/searchtool/Search.do?query=TENM4&submit=Quick%0D%9208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM4	rs4945327	0.284545	0	0	1	0	0	intronic	intronic	intronic	TENM4	TENM4	ENSG00000149256	Na	Na	Na	Na	Na	Na	Het;G>A	587;21|30	Hom;G>A	1412;0|55
N	N	-	11	7949791	7949791	A	C	snp	nonsynonymous SNV	T419G	V140G	aliphatic,hydrophobic,neutral	aliphatic,neutral	OR10A6	Olfr519	ENSG00000280899	olfactory receptor family 10 subfamily A member 6 (gene/pseudogene)	chr11:7949180-7950209	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR10A6				http://www.informatics.jax.org/searchtool/Search.do?query=OR10A6&submit=Quick%0D%22251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10A6	rs7933807	0.413139	0.3774	0.4174	0.38	5	13	exonic	exonic	exonic	OR10A6	OR10A6	ENSG00000175393	nonsynonymous SNV	nonsynonymous SNV	unknown	OR10A6:NM_001004461:exon1:c.T419G:p.V140G,	OR10A6:uc010rbh.2:exon1:c.T419G:p.V140G,	UNKNOWN	Het;A>C	1502;80|65	Hom;A>C	4602;0|162
N	N	-	11	7949860	7949860	G	A	snp	nonsynonymous SNV	C350T	A117V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR10A6	Olfr519	ENSG00000280899	olfactory receptor family 10 subfamily A member 6 (gene/pseudogene)	chr11:7949180-7950209	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR10A6				http://www.informatics.jax.org/searchtool/Search.do?query=OR10A6&submit=Quick%0D%22251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10A6	rs7928451	0.394369	0.3607	0.4113	0.08	1	13	exonic	exonic	exonic	OR10A6	OR10A6	ENSG00000175393	nonsynonymous SNV	nonsynonymous SNV	unknown	OR10A6:NM_001004461:exon1:c.C350T:p.A117V,	OR10A6:uc010rbh.2:exon1:c.C350T:p.A117V,	UNKNOWN	Het;G>A	1167;91|58	Hom;G>A	3696;0|134
N	N	-	11	7961146	7961146	A	G	snp	upstream	 	 	 	 	OR10A3	Olfr518	ENSG00000281680	olfactory receptor family 10 subfamily A member 3	chr11:7960081-7961141	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OR10A3				http://www.informatics.jax.org/searchtool/Search.do?query=OR10A3&submit=Quick%0D%22326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10A3	rs9787855	0.418331	0	0	1	0	0	upstream	upstream	upstream	OR10A3	OR10A3	ENSG00000170683	Na	Na	Na	Na	Na	Na	Het;A>G	373;8|13	Hom;A>G	577;0|17
N	N	-	11	81023955	81023955	A	C	snp	intergenic	 	 	 	 	AP003398.1																		rs10897781	0.182708	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928944(dist=550109),LOC101928989(dist=566938)	TENM4(dist=1872260),BC041900(dist=566941)	ENSG00000254437(dist=355278),ENSG00000254747(dist=239313)	Na	Na	Na	Na	Na	Na	Het;A>C	56;10|3	Hom;A>C	557;0|13
N	N	-	11	8130176	8130176	T	C	snp	UTR3	*2069A>G	 	 	 	RIC3	Ric3	ENSG00000166405	RIC3 acetylcholine receptor chaperone	chr11:8127597-8190602	The protein encoded by this gene promotes functional expression of homomeric nicotinic acetylcholine receptors at the cell surface. It enhances currents generated by these receptors by expediting receptor transport to the cell surface and by increasing receptor number. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Type 2 Diabetes| edema | rosiglitazone; Neuroblastoma	 		GO:0006457;protein folding;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007271;synaptic transmission, cholinergic;IBA|GO:0034394;protein localization to cell surface;IBA|GO:0043623;cellular protein complex assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IBA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0033130;acetylcholine receptor binding;IBA|GO:0044183;protein binding involved in protein folding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIC3			https://www.ncbi.nlm.nih.gov/omim/?term=610509	http://www.informatics.jax.org/searchtool/Search.do?query=RIC3&submit=Quick%0D%11782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC3	rs2141321	0.483427	0	0	1	0	0	UTR3	UTR3	UTR3	RIC3(NM_001135109:c.*2069A>G,NM_024557:c.*2069A>G,NM_001206672:c.*2069A>G,NM_001206671:c.*2069A>G)	RIC3(uc001mgb.2:c.*2069A>G,uc010rbl.1:c.*2069A>G,uc001mgd.2:c.*2069A>G,uc001mgc.2:c.*2069A>G,uc009yfm.2:c.*2069A>G,uc001mge.2:c.*2069A>G,uc010rbm.1:c.*2069A>G,uc009yfn.2:c.*2069A>G)	ENSG00000166405(ENST00000396677:c.*2069A>G,ENST00000335425:c.*2069A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1619;79|69	Hom;T>C	3889;0|128
N	N	-	11	8159843	8159843	G	A	snp	nonsynonymous SNV	C403T	P135S	hydrophobic,neutral	polar,hydrophilic,neutral	RIC3	Ric3	ENSG00000166405	RIC3 acetylcholine receptor chaperone	chr11:8127597-8190602	The protein encoded by this gene promotes functional expression of homomeric nicotinic acetylcholine receptors at the cell surface. It enhances currents generated by these receptors by expediting receptor transport to the cell surface and by increasing receptor number. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Type 2 Diabetes| edema | rosiglitazone; Neuroblastoma	 		GO:0006457;protein folding;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007271;synaptic transmission, cholinergic;IBA|GO:0034394;protein localization to cell surface;IBA|GO:0043623;cellular protein complex assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IBA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0033130;acetylcholine receptor binding;IBA|GO:0044183;protein binding involved in protein folding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIC3			https://www.ncbi.nlm.nih.gov/omim/?term=610509	http://www.informatics.jax.org/searchtool/Search.do?query=RIC3&submit=Quick%0D%11782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC3	rs73411617	0.0543131	0.0404	0.0407	0.15	2	13	exonic	exonic	exonic	RIC3	RIC3	ENSG00000166405	nonsynonymous SNV	nonsynonymous SNV	unknown	RIC3:NM_024557:exon3:c.C403T:p.P135S,RIC3:NM_001206672:exon3:c.C403T:p.P135S,RIC3:NM_001206671:exon3:c.C403T:p.P135S,	RIC3:uc001mgd.2:exon3:c.C403T:p.P135S,RIC3:uc010rbm.1:exon3:c.C403T:p.P135S,RIC3:uc010rbl.1:exon4:c.C253T:p.P85S,RIC3:uc001mgc.2:exon3:c.C403T:p.P135S,RIC3:uc009yfm.2:exon3:c.C403T:p.P135S,	UNKNOWN	Het;G>A	393;49|24	Hom;G>A	1179;2|45
N	N	-	11	8174966	8174966	G	A	snp	unknown	 	 	 	 	RIC3	Ric3	ENSG00000166405	RIC3 acetylcholine receptor chaperone	chr11:8127597-8190602	The protein encoded by this gene promotes functional expression of homomeric nicotinic acetylcholine receptors at the cell surface. It enhances currents generated by these receptors by expediting receptor transport to the cell surface and by increasing receptor number. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Type 2 Diabetes| edema | rosiglitazone; Neuroblastoma	 		GO:0006457;protein folding;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007271;synaptic transmission, cholinergic;IBA|GO:0034394;protein localization to cell surface;IBA|GO:0043623;cellular protein complex assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IBA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0033130;acetylcholine receptor binding;IBA|GO:0044183;protein binding involved in protein folding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIC3			https://www.ncbi.nlm.nih.gov/omim/?term=610509	http://www.informatics.jax.org/searchtool/Search.do?query=RIC3&submit=Quick%0D%11782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC3	rs10743052	0.528954	0	0.4755	1	0	0	intronic	UTR5	exonic	RIC3	RIC3(uc010rbl.1:c.-13252C>T)	ENSG00000166405	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	846;27|39	Hom;G>A	1315;0|51
N	N	-	11	82210484	82210484	T	TAGATAGATAGACAGAC	indel	ncRNA_intronic	 	 	 	 	MIR4300HG																		Na	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101928989(dist=95529),FAM181B(dist=232562)	BC041900(dist=95529),FAM181B(dist=232562)	ENSG00000245832	Na	Na	Na	Na	Na	Na	Het;+AGATAGATAGACAGAC	77;4|3	Hom;+AGATAGATAGACAGAC	278;0|7
N	N	-	11	82641364	82641364	G	C	snp	intronic	 	 	 	 	DDIAS	Ddias																	rs10431162	0.257388	0.2637	0.2278	1	0	0	intronic	intronic	intronic	DDIAS	C11orf82	ENSG00000137509,ENSG00000165490	Na	Na	Na	Na	Na	Na	Het;G>C	264;11|14	Hom;G>C	790;0|26
N	N	-	11	83585583	83585583	T	TA	indel	intronic	 	 	 	 	DLG2	Dlg2	ENSG00000150672	discs large MAGUK scaffold protein 2	chr11:83166055-85338966	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]	Body Weight; Tobacco Use Disorder; protein quantitative trait loci; Waist Circumference; Parkinson's disease ; Heart Failure; Myocardial Infarction; Stroke; Echocardiography; Hemoglobins; several psychiatric disorders; Chemokine CCL2; Cholesterol, HDL; null; Phospholipids; Body Height; Lupus Erythematosus, Systemic; Psychiatric Disorders; Parkinson's disease; Glucose; schizophrenia | autism; Hip; Heart Rate; Cystatins; Calcium-Binding Proteins; Parkinson Disease	Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain.	Neurexins and neuroligins	GO:0007268;chemical synaptic transmission;IBA|GO:0007399;nervous system development;IBA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0019233;sensory perception of pain;IEA|GO:0043113;receptor clustering;IBA|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0097120;receptor localization to synapse;IBA	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;ISS|GO:0008328;ionotropic glutamate receptor complex;IBA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0044224;juxtaparanode region of axon;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IDA|GO:0035255;ionotropic glutamate receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DLG2	https://www.uniprot.org/uniprot/Q15700		https://www.ncbi.nlm.nih.gov/omim/?term=603583	http://www.informatics.jax.org/searchtool/Search.do?query=DLG2&submit=Quick%0D%9339ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG2	rs11447183	0.359824	0.3255	0.3550	1	0	0	intronic	intronic	intronic	DLG2	DLG2	ENSG00000150672	Na	Na	Na	Na	Na	Na	Het;+A	909;29|25	Hom;+A	1196;0|29
N	N	-	11	83585585	83585585	A	T	snp	intronic	 	 	 	 	DLG2	Dlg2	ENSG00000150672	discs large MAGUK scaffold protein 2	chr11:83166055-85338966	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]	Body Weight; Tobacco Use Disorder; protein quantitative trait loci; Waist Circumference; Parkinson's disease ; Heart Failure; Myocardial Infarction; Stroke; Echocardiography; Hemoglobins; several psychiatric disorders; Chemokine CCL2; Cholesterol, HDL; null; Phospholipids; Body Height; Lupus Erythematosus, Systemic; Psychiatric Disorders; Parkinson's disease; Glucose; schizophrenia | autism; Hip; Heart Rate; Cystatins; Calcium-Binding Proteins; Parkinson Disease	Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain.	Neurexins and neuroligins	GO:0007268;chemical synaptic transmission;IBA|GO:0007399;nervous system development;IBA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0019233;sensory perception of pain;IEA|GO:0043113;receptor clustering;IBA|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0097120;receptor localization to synapse;IBA	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;ISS|GO:0008328;ionotropic glutamate receptor complex;IBA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0044224;juxtaparanode region of axon;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IDA|GO:0035255;ionotropic glutamate receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DLG2	https://www.uniprot.org/uniprot/Q15700		https://www.ncbi.nlm.nih.gov/omim/?term=603583	http://www.informatics.jax.org/searchtool/Search.do?query=DLG2&submit=Quick%0D%9339ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG2	rs112496782	0.43111	0	0	1	0	0	intronic	intronic	intronic	DLG2	DLG2	ENSG00000150672	Na	Na	Na	Na	Na	Na	Het;A>T	918;29|25	Hom;A>T	1205;0|30
N	N	-	11	837772	837772	C	T	snp	intronic	 	 	 	 	CD151	Cd151	ENSG00000177697	CD151 molecule (Raph blood group)	chr11:832843-839831	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]	nephropathy with pretibial epidermolysis bullosa and deafness	Mice homozygous for mutations in this gene display increased bleeding time, impaired keratinocyte migration, hyperproliferation of stimulated T cells, impaired pathologic angiogenesis in several in vivo assays, and kidney abnormalities.	Type I hemidesmosome assembly	GO:0007155;cell adhesion;NAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0016477;cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0042098;T cell proliferation;IEA	GO:0005604;basement membrane;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CD151		https://hpo.jax.org/app/browse/search?q=CD151&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602243	http://www.informatics.jax.org/searchtool/Search.do?query=CD151&submit=Quick%0D%14077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD151	rs5030779	0.219249	0	0	1	0	0	intronic	intronic	intronic	CD151	CD151	ENSG00000177697,ENSG00000177700	Na	Na	Na	Na	Na	Na	Het;C>T	225;14|9	Hom;C>T	645;2|24
N	N	-	11	85046246	85046246	C	T	snp	intronic	 	 	 	 	DLG2	Dlg2	ENSG00000150672	discs large MAGUK scaffold protein 2	chr11:83166055-85338966	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]	Body Weight; Tobacco Use Disorder; protein quantitative trait loci; Waist Circumference; Parkinson's disease ; Heart Failure; Myocardial Infarction; Stroke; Echocardiography; Hemoglobins; several psychiatric disorders; Chemokine CCL2; Cholesterol, HDL; null; Phospholipids; Body Height; Lupus Erythematosus, Systemic; Psychiatric Disorders; Parkinson's disease; Glucose; schizophrenia | autism; Hip; Heart Rate; Cystatins; Calcium-Binding Proteins; Parkinson Disease	Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain.	Neurexins and neuroligins	GO:0007268;chemical synaptic transmission;IBA|GO:0007399;nervous system development;IBA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0019233;sensory perception of pain;IEA|GO:0043113;receptor clustering;IBA|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0097120;receptor localization to synapse;IBA	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;ISS|GO:0008328;ionotropic glutamate receptor complex;IBA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0044224;juxtaparanode region of axon;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IDA|GO:0035255;ionotropic glutamate receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DLG2	https://www.uniprot.org/uniprot/Q15700		https://www.ncbi.nlm.nih.gov/omim/?term=603583	http://www.informatics.jax.org/searchtool/Search.do?query=DLG2&submit=Quick%0D%9339ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG2	rs551940	0.745807	0	0	1	0	0	intronic	intronic	intronic	DLG2	DLG2	ENSG00000150672	Na	Na	Na	Na	Na	Na	Het;C>T	100;12|7	Hom;C>T	570;0|23
N	N	-	11	866499	866499	G	A	snp	intronic	 	 	 	 	TSPAN4	Tspan4	ENSG00000214063	tetraspanin 4	chr11:842808-867116	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]		 		GO:0006461;protein complex assembly;IDA|GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IDA	GO:0003823;antigen binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN4			https://www.ncbi.nlm.nih.gov/omim/?term=602644	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN4&submit=Quick%0D%18208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN4	rs34165342	0.182708	0.1036	0	1	0	0	intronic	intronic	intronic	TSPAN4	TSPAN4	ENSG00000214063	Na	Na	Na	Na	Na	Na	Het;G>A	433;13|19	Hom;G>A	1213;2|30
N	N	-	11	866794	866794	A	G	snp	UTR3	*164A>G	 	 	 	TSPAN4	Tspan4	ENSG00000214063	tetraspanin 4	chr11:842808-867116	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]		 		GO:0006461;protein complex assembly;IDA|GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IDA	GO:0003823;antigen binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN4			https://www.ncbi.nlm.nih.gov/omim/?term=602644	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN4&submit=Quick%0D%18208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN4	rs7091	0.625	0	0	1	0	0	UTR3	UTR3	UTR3	TSPAN4(NM_003271:c.*164A>G,NM_001025238:c.*164A>G,NM_001025239:c.*164A>G,NM_001025236:c.*164A>G,NM_001025235:c.*164A>G,NM_001025234:c.*164A>G,NM_001025237:c.*164A>G)	TSPAN4(uc001lsd.1:c.*164A>G,uc001lse.1:c.*164A>G,uc001lsf.1:c.*164A>G,uc001lsg.1:c.*164A>G,uc001lsh.1:c.*164A>G,uc001lsi.1:c.*164A>G,uc001lsj.1:c.*164A>G)	ENSG00000214063(ENST00000397397:c.*164A>G,ENST00000397411:c.*164A>G,ENST00000397396:c.*164A>G,ENST00000397408:c.*164A>G,ENST00000397406:c.*164A>G,ENST00000409543:c.*164A>G,ENST00000397404:c.*164A>G,ENST00000409531:c.*164A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	42;4|3	Hom;A>G	144;0|5
N	N	-	11	870446	870446	G	A	snp	nonsynonymous SNV	C1013T	A338V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CHID1	Chid1	ENSG00000177830	chitinase domain containing 1	chr11:867357-915058		Tobacco Use Disorder	 	Platelet degranulation 	GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0005975;carbohydrate metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005770;late endosome;IDA|GO:0005802;trans-Golgi network;IDA|GO:0016020;membrane;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008061;chitin binding;IEA|GO:0070492;oligosaccharide binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHID1			https://www.ncbi.nlm.nih.gov/omim/?term=615692	http://www.informatics.jax.org/searchtool/Search.do?query=CHID1&submit=Quick%0D%14091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHID1	rs6682	0.56889	0.4769	0.5466	0.38	5	13	exonic	exonic	exonic	CHID1	CHID1	ENSG00000177830	nonsynonymous SNV	nonsynonymous SNV	unknown	CHID1:NM_023947:exon11:c.C1013T:p.A338V,CHID1:NM_001142675:exon11:c.C1013T:p.A338V,CHID1:NM_001142674:exon12:c.C1013T:p.A338V,CHID1:NM_001142676:exon12:c.C1088T:p.A363V,CHID1:NM_001142677:exon10:c.C920T:p.A307V,	CHID1:uc010qwv.2:exon11:c.C1196T:p.A399V,CHID1:uc010qww.2:exon11:c.C1013T:p.A338V,CHID1:uc001lsm.3:exon11:c.C1013T:p.A338V,CHID1:uc001lso.3:exon12:c.C1013T:p.A338V,CHID1:uc010qwu.1:exon11:c.C1103T:p.A368V,CHID1:uc001lsp.3:exon10:c.C920T:p.A307V,CHID1:uc001lsn.3:exon12:c.C1088T:p.A363V,	UNKNOWN	Het;G>A	454;39|25	Hom;G>A	1124;0|44
N	N	-	11	8717003	8717003	C	T	snp	ncRNA_intronic	 	 	 	 	AC091053.1																		rs2270956	0.336462	0.3648	0.4271	1	0	0	intronic	intronic	ncRNA_intronic	ST5	ST5	ENSG00000254665	Na	Na	Na	Na	Na	Na	Het;C>T	481;23|24	Hom;C>T	1120;2|45
N	N	-	11	87908448	87908448	A	G	snp	synonymous SNV	T105C	S35S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RAB38	Rab38	ENSG00000123892	RAB38, member RAS oncogene family	chr11:87846410-87908635		multiple sclerosis (age of onset); Attention Deficit Disorder with Hyperactivity	Mice homozygous for a spontaneous mutation display oculocutaneous albinism, abnormal lung alveolar structure and aberrant pulmonary surfactant homeostasis.	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006996;organelle organization;IEA|GO:0007005;mitochondrion organization;IMP|GO:0007264;small GTPase mediated signal transduction;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0035646;endosome to melanosome transport;IMP|GO:0043687;post-translational protein modification;TAS|GO:0060155;platelet dense granule organization;IEA|GO:0061024;membrane organization;TAS|GO:0072657;protein localization to membrane;IMP|GO:0090383;phagosome acidification;IMP|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005764;lysosome;IDA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IEA|GO:0033162;melanosome membrane;TAS|GO:0042470;melanosome;IDA|GO:0044233;ER-mitochondrion membrane contact site;IDA|GO:0045335;phagocytic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;NAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;NAS|GO:0030742;GTP-dependent protein binding;IPI|GO:0035650;AP-1 adaptor complex binding;IPI|GO:0035651;AP-3 adaptor complex binding;IPI|GO:0036461;BLOC-2 complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB38	https://www.uniprot.org/uniprot/P57729		https://www.ncbi.nlm.nih.gov/omim/?term=606281	http://www.informatics.jax.org/searchtool/Search.do?query=RAB38&submit=Quick%0D%5568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB38	rs302646	0.745607	0.8407	0.8023	1	0	0	exonic	exonic	exonic	RAB38	RAB38	ENSG00000123892	synonymous SNV	synonymous SNV	unknown	RAB38:NM_022337:exon1:c.T105C:p.S35S,	RAB38:uc001pcj.2:exon1:c.T105C:p.S35S,	UNKNOWN	Het;A>G	1189;67|58	Hom;A>G	2614;0|98
N	N	-	11	8808587	8808587	A	G	snp	ncRNA_intronic	 	 	 	 	LOC102724784																		rs3763920	0.563099	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC102724784	ST5	ENSG00000255159	Na	Na	Na	Na	Na	Na	Het;A>G	231;20|10	Hom;A>G	1357;0|47
N	N	-	11	89070705	89070705	T	C	snp	intronic	 	 	 	 	NOX4	Nox4	ENSG00000086991	NADPH oxidase 4	chr11:89057524-89322779	This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]	diabetes, type 2; Type 2 Diabetes| edema | rosiglitazone; homocysteine; Tobacco Use Disorder; Hepatopulmonary Syndrome|Liver Cirrhosis; HIV; Amyotrophic Lateral Sclerosis	Mice homozygous for a null allele display increased heart damage following pressure overload. Mice with a cardiomyocyte specific deletion show decreased damage following pressure overload. Mice homozygous for a different knock-out allele exhibit decreased suseptibility to bleomycin-induced fibrosis.	Detoxification of Reactive Oxygen Species	GO:0000902;cell morphogenesis;ISS|GO:0001666;response to hypoxia;IEA|GO:0006801;superoxide metabolic process;IDA|GO:0006954;inflammatory response;TAS|GO:0007568;aging;IEA|GO:0007569;cell aging;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010467;gene expression;IMP|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042554;superoxide anion generation;ISS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0045453;bone resorption;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055114;oxidation-reduction process;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071480;cellular response to gamma radiation;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0072593;reactive oxygen species metabolic process;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IEA|GO:2000573;positive regulation of DNA biosynthetic process;IEA	GO:0001725;stress fiber;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0043020;NADPH oxidase complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071944;cell periphery;IEA	GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS|GO:0016174;NAD(P)H oxidase activity;TAS|GO:0016175;superoxide-generating NADPH oxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0019826;oxygen sensor activity;TAS|GO:0020037;heme binding;TAS|GO:0050660;flavin adenine dinucleotide binding;TAS|GO:0050664;oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NOX4	https://www.uniprot.org/uniprot/Q9NPH5		https://www.ncbi.nlm.nih.gov/omim/?term=605261	http://www.informatics.jax.org/searchtool/Search.do?query=NOX4&submit=Quick%0D%1942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOX4	rs3737449	0.0808706	0.0548	0.0923	1	0	0	intronic	intronic	intronic	NOX4	NOX4	ENSG00000086991	Na	Na	Na	Na	Na	Na	Het;T>C	384;3|17	Hom;T>C	638;2|25
N	N	-	11	89073414	89073414	G	C	snp	intronic	 	 	 	 	NOX4	Nox4	ENSG00000086991	NADPH oxidase 4	chr11:89057524-89322779	This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]	diabetes, type 2; Type 2 Diabetes| edema | rosiglitazone; homocysteine; Tobacco Use Disorder; Hepatopulmonary Syndrome|Liver Cirrhosis; HIV; Amyotrophic Lateral Sclerosis	Mice homozygous for a null allele display increased heart damage following pressure overload. Mice with a cardiomyocyte specific deletion show decreased damage following pressure overload. Mice homozygous for a different knock-out allele exhibit decreased suseptibility to bleomycin-induced fibrosis.	Detoxification of Reactive Oxygen Species	GO:0000902;cell morphogenesis;ISS|GO:0001666;response to hypoxia;IEA|GO:0006801;superoxide metabolic process;IDA|GO:0006954;inflammatory response;TAS|GO:0007568;aging;IEA|GO:0007569;cell aging;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010467;gene expression;IMP|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042554;superoxide anion generation;ISS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0045453;bone resorption;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055114;oxidation-reduction process;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071480;cellular response to gamma radiation;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0072593;reactive oxygen species metabolic process;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IEA|GO:2000573;positive regulation of DNA biosynthetic process;IEA	GO:0001725;stress fiber;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0043020;NADPH oxidase complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071944;cell periphery;IEA	GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS|GO:0016174;NAD(P)H oxidase activity;TAS|GO:0016175;superoxide-generating NADPH oxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0019826;oxygen sensor activity;TAS|GO:0020037;heme binding;TAS|GO:0050660;flavin adenine dinucleotide binding;TAS|GO:0050664;oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NOX4	https://www.uniprot.org/uniprot/Q9NPH5		https://www.ncbi.nlm.nih.gov/omim/?term=605261	http://www.informatics.jax.org/searchtool/Search.do?query=NOX4&submit=Quick%0D%1942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOX4	rs16913141	0.0804712	0	0	1	0	0	intronic	intronic	intronic	NOX4	NOX4	ENSG00000086991	Na	Na	Na	Na	Na	Na	Het;G>C	285;12|11	Hom;G>C	903;0|24
N	N	-	11	8932640	8932640	A	C	snp	upstream	 	 	 	 	AKIP1	Akip1	ENSG00000166452	A-kinase interacting protein 1	chr11:8932686-8941631	This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:1901222;regulation of NIK/NF-kappaB signaling;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKIP1			https://www.ncbi.nlm.nih.gov/omim/?term=609191	http://www.informatics.jax.org/searchtool/Search.do?query=AKIP1&submit=Quick%0D%11798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKIP1	rs11042121	0.607628	0	0	1	0	0	upstream	upstream	upstream	AKIP1,ST5	AKIP1,ST5	ENSG00000166444,ENSG00000166452	Na	Na	Na	Na	Na	Na	Het;A>C	420;13|21	Hom;A>C	1134;0|41
N	N	-	11	89395303	89395304	AT	A	indel	ncRNA_intronic	 	 	 	 	FOLH1B																		rs398017038	0.53734	0	0	1	0	0	intronic	intronic	ncRNA_intronic	FOLH1B	FOLH1B	ENSG00000134612	Na	Na	Na	Na	Na	Na	Het;-T	265;16|15	Hom;-T	699;0|30
N	N	-	11	8941215	8941215	A	G	snp	UTR3	*188A>G	 	 	 	AKIP1	Akip1	ENSG00000166452	A-kinase interacting protein 1	chr11:8932686-8941631	This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:1901222;regulation of NIK/NF-kappaB signaling;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKIP1			https://www.ncbi.nlm.nih.gov/omim/?term=609191	http://www.informatics.jax.org/searchtool/Search.do?query=AKIP1&submit=Quick%0D%11798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKIP1	rs4910157	0.327476	0	0	1	0	0	UTR3	UTR3	UTR3	AKIP1(NM_020642:c.*188A>G,NM_001206648:c.*188A>G,NM_001206647:c.*188A>G,NM_001206646:c.*188A>G)	AKIP1(uc001mgx.3:c.*188A>G,uc001mgz.3:c.*188A>G,uc001mgy.3:c.*188A>G,uc021qdh.1:c.*188A>G,uc001mha.3:c.*188A>G,uc021qdi.1:c.*188A>G)	ENSG00000166452(ENST00000299576:c.*188A>G,ENST00000309377:c.*188A>G,ENST00000309357:c.*188A>G,ENST00000396648:c.*188A>G,ENST00000534147:c.*188A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	529;26|23	Hom;A>G	1540;0|42
N	N	-	11	8959545	8959545	C	A	snp	nonsynonymous SNV	G164T	R55L	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	ASCL3	Ascl3	ENSG00000176009	achaete-scute family bHLH transcription factor 3	chr11:8959119-8964580	Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]		Mice heterozygous for a null allele are born at the expected frequency and exhibit normal growth, fertility, survival and salivary gland function.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0090575;RNA polymerase II transcription factor complex;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASCL3			https://www.ncbi.nlm.nih.gov/omim/?term=609154	http://www.informatics.jax.org/searchtool/Search.do?query=ASCL3&submit=Quick%0D%13782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASCL3	rs4909951	0.545727	0.5469	0.6165	0.31	4	13	exonic	exonic	exonic	ASCL3	ASCL3	ENSG00000176009	nonsynonymous SNV	nonsynonymous SNV	unknown	ASCL3:NM_020646:exon2:c.G164T:p.R55L,	ASCL3:uc001mhd.1:exon2:c.G164T:p.R55L,ASCL3:uc021qdj.1:exon1:c.G164T:p.R55L,	UNKNOWN	Het;C>A	1328;52|60	Hom;C>A	3169;0|117
N	N	-	11	89896457	89896457	C	T	snp	intronic	 	 	 	 	NAALAD2	Naalad2	ENSG00000077616	N-acetylated alpha-linked acidic dipeptidase 2	chr11:89864683-89926062	This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	Neutrophils; Tobacco Use Disorder	 	Amino acid synthesis and interconversion (transamination)	GO:0006508;proteolysis;IEA|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0042135;neurotransmitter catabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004180;carboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;NAS|GO:0008237;metallopeptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0016805;dipeptidase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0050129;N-formylglutamate deformylase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAALAD2	https://www.uniprot.org/uniprot/Q9Y3Q0		https://www.ncbi.nlm.nih.gov/omim/?term=611636	http://www.informatics.jax.org/searchtool/Search.do?query=NAALAD2&submit=Quick%0D%1632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALAD2	rs489009	0.655351	0.6282	0.5750	1	0	0	intronic	intronic	intronic	NAALAD2	NAALAD2	ENSG00000077616	Na	Na	Na	Na	Na	Na	Het;C>T	493;23|24	Hom;C>T	1307;1|50
N	N	-	11	89935586	89935586	G	T	snp	nonsynonymous SNV	C986A	A329D	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	CHORDC1	Chordc1	ENSG00000110172	cysteine and histidine rich domain containing 1	chr11:89934328-89956532		C-Reactive Protein; Hip; Coronary Artery Disease; longevity; Body Mass Index; Stroke; Erythrocytes; Parkinson Disease; Cholesterol, HDL; Body Weights and Measures; Blood Pressure; Creatinine; Receptors, Tumor Necrosis Factor, Type II; Insulin; Bone Density; Mortality; Alzheimer Disease; HIV-1; Glomerular Filtration Rate	Mice homozygous for a knock-out allele exhibit embryonic lethality before somite formation with decreased proliferation and increased apoptosis of cultured inner cell masse cells.		GO:0010824;regulation of centrosome duplication;IEA|GO:0061077;chaperone-mediated protein folding;IEA|GO:1900034;regulation of cellular response to heat;IEA|GO:2000299;negative regulation of Rho-dependent protein serine/threonine kinase activity;IEA	GO:0005575;cellular_component;ND	GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0043531;ADP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051879;Hsp90 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHORDC1	https://www.uniprot.org/uniprot/Q9UHD1		https://www.ncbi.nlm.nih.gov/omim/?term=604353	http://www.informatics.jax.org/searchtool/Search.do?query=CHORDC1&submit=Quick%0D%3936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHORDC1	rs1045861	0.610423	0.5997	0.6885	0.23	3	13	exonic	exonic	exonic	CHORDC1	CHORDC1	ENSG00000110172	nonsynonymous SNV	nonsynonymous SNV	unknown	CHORDC1:NM_012124:exon11:c.C986A:p.A329D,CHORDC1:NM_001144073:exon10:c.C929A:p.A310D,	CHORDC1:uc009yvz.2:exon10:c.C929A:p.A310D,CHORDC1:uc001pdg.2:exon11:c.C986A:p.A329D,	UNKNOWN	Het;G>T	1489;88|72	Hom;G>T	3462;0|130
N	N	-	11	89939448	89939448	G	A	snp	UTR5	-716C>T	 	 	 	CHORDC1	Chordc1	ENSG00000110172	cysteine and histidine rich domain containing 1	chr11:89934328-89956532		C-Reactive Protein; Hip; Coronary Artery Disease; longevity; Body Mass Index; Stroke; Erythrocytes; Parkinson Disease; Cholesterol, HDL; Body Weights and Measures; Blood Pressure; Creatinine; Receptors, Tumor Necrosis Factor, Type II; Insulin; Bone Density; Mortality; Alzheimer Disease; HIV-1; Glomerular Filtration Rate	Mice homozygous for a knock-out allele exhibit embryonic lethality before somite formation with decreased proliferation and increased apoptosis of cultured inner cell masse cells.		GO:0010824;regulation of centrosome duplication;IEA|GO:0061077;chaperone-mediated protein folding;IEA|GO:1900034;regulation of cellular response to heat;IEA|GO:2000299;negative regulation of Rho-dependent protein serine/threonine kinase activity;IEA	GO:0005575;cellular_component;ND	GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0043531;ADP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051879;Hsp90 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHORDC1	https://www.uniprot.org/uniprot/Q9UHD1		https://www.ncbi.nlm.nih.gov/omim/?term=604353	http://www.informatics.jax.org/searchtool/Search.do?query=CHORDC1&submit=Quick%0D%3936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHORDC1	rs1943381	0.598642	0.5788	0.6872	1	0	0	intronic	intronic	UTR5	CHORDC1	CHORDC1	ENSG00000110172(ENST00000529726:c.-716C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	665;33|30	Hom;G>A	1705;0|62
N	N	-	11	90016778	90016778	G	A	snp	ncRNA_exonic	 	 	 	 	TUBAP2																		rs7101903	0.641374	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_exonic	DISC1FP1	CHORDC1(dist=60246),HP11113(dist=208109)	ENSG00000214391	Na	Na	Na	Na	Na	Na	Het;G>A	227;11|9	Hom;G>A	458;0|16
N	N	-	11	90032662	90032662	C	T	snp	ncRNA_intronic	 	 	 	 	DISC1FP1																		rs532247	0.614617	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DISC1FP1	CHORDC1(dist=76130),HP11113(dist=192225)	ENSG00000261645	Na	Na	Na	Na	Na	Na	Het;C>T	446;27|25	Hom;C>T	1545;0|60
N	N	-	11	900929	900929	C	G	snp	intronic	 	 	 	 	CHID1	Chid1	ENSG00000177830	chitinase domain containing 1	chr11:867357-915058		Tobacco Use Disorder	 	Platelet degranulation 	GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0005975;carbohydrate metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005770;late endosome;IDA|GO:0005802;trans-Golgi network;IDA|GO:0016020;membrane;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008061;chitin binding;IEA|GO:0070492;oligosaccharide binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHID1			https://www.ncbi.nlm.nih.gov/omim/?term=615692	http://www.informatics.jax.org/searchtool/Search.do?query=CHID1&submit=Quick%0D%14091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHID1	rs10794339	0.677117	0.6029	0.5963	1	0	0	intronic	intronic	intronic	CHID1	CHID1	ENSG00000177830	Na	Na	Na	Na	Na	Na	Het;C>G	1657;91|81	Hom;C>G	3601;0|131
N	N	-	11	92358023	92358023	C	G	snp	intronic	 	 	 	 	FAT3	Fat3	ENSG00000282908	FAT atypical cadherin 3	chr11:92085262-92629618		Dehydroepiandrosterone; Insulin; Cardiomegaly; Tobacco Use Disorder; Audiometry, Pure-Tone	Mice homozgyous for a knock-out allele exhibit abnormal amacrine cell differentiation and migration that result in the formation of two additional plexiform layers and thickened retinal ganglion layer.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007275;multicellular organism development;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT3			https://www.ncbi.nlm.nih.gov/omim/?term=612483	http://www.informatics.jax.org/searchtool/Search.do?query=FAT3&submit=Quick%0D%22647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT3	rs498807	0.533546	0	0	1	0	0	intronic	intronic	intronic	FAT3	FAT3	ENSG00000165323	Na	Na	Na	Na	Na	Na	Het;C>G	374;21|19	Hom;C>G	1409;0|49
N	N	-	11	94759059	94759059	A	G	snp	nonsynonymous SNV	A338G	Q113R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	KDM4E		ENSG00000235268	lysine demethylase 4E	chr11:94758422-94760760			Mice homozygous for a knock-out allele exhibit accumulation of histone 3 methylation in spermatids, a transient increase in testes size, wider tubules, occasional male germ cell apoptosis, and decreased body weight. However, fertility is normal.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IEA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KDM4E			https://www.ncbi.nlm.nih.gov/omim/?term=616581	http://www.informatics.jax.org/searchtool/Search.do?query=KDM4E&submit=Quick%0D%19326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4E	rs10752685	0.876398	0	0.8463	0.08	1	12	exonic	exonic	exonic	KDM4E	KDM4E	ENSG00000235268	nonsynonymous SNV	nonsynonymous SNV	unknown	KDM4E:NM_001161630:exon1:c.A338G:p.Q113R,	KDM4E:uc010ruf.1:exon1:c.A338G:p.Q113R,	UNKNOWN	Het;A>G	502;47|25	Hom;A>G	1726;0|62
N	N	-	11	95825374	95825383	TTGCTGCTGC	T	indel	nonframeshift substitution	1812_1821A	 	 	 	MAML2	Maml2	ENSG00000184384	mastermind like transcriptional coactivator 2	chr11:95709762-96076344	The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]	Heart Rate; Forced Expiratory Volume; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Myocardial Infarction; Forced Vital Capacity; Celiac Disease|; Cholesterol, HDL; Tobacco Use Disorder; Death, Sudden, Cardiac; smoking cessation; response to treatment for acute lymphoblastic leukemia	 	RUNX3 regulates NOTCH signaling	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016607;nuclear speck;IEA	GO:0003713;transcription coactivator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MAML2			https://www.ncbi.nlm.nih.gov/omim/?term=607537	http://www.informatics.jax.org/searchtool/Search.do?query=MAML2&submit=Quick%0D%15198ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAML2	rs141671766	0.839257	0.4924	0.5901	1	0	0	exonic	exonic	exonic	MAML2	MAML2	ENSG00000184384	nonframeshift substitution	nonframeshift substitution	unknown	MAML2:NM_032427:exon2:c.1812_1821A,	MAML2:uc001pfw.1:exon2:c.1812_1821A,	UNKNOWN	Het;-TGCTGCTGC	1282;7|55	Hom;-TGCTGCTGC	2282;3|57
N	N	-	11	96106661	96106661	C	G	snp	intronic	 	 	 	 	CCDC82	Ccdc82	ENSG00000149231	coiled-coil domain containing 82	chr11:96085933-96123087			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC82	https://www.uniprot.org/uniprot/Q8N4S0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC82&submit=Quick%0D%9206ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC82	rs11021560	0.308906	0.3558	0.3661	1	0	0	intronic	intronic	intronic	CCDC82	CCDC82	ENSG00000149231	Na	Na	Na	Na	Na	Na	Het;C>G	280;11|14	Hom;C>G	1152;0|38
N	N	-	11	96123734	96123734	T	TG	indel	UTR5	-80T>TG	 	 	 	JRKL	Jrkl	ENSG00000183340	JRK like	chr11:96123153-96240738	The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]		 		GO:0007417;central nervous system development;TAS	GO:0005634;nucleus;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JRKL			https://www.ncbi.nlm.nih.gov/omim/?term=603211	http://www.informatics.jax.org/searchtool/Search.do?query=JRKL&submit=Quick%0D%14974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JRKL	rs3842515	0.310503	0	0	1	0	0	UTR5	UTR5	UTR5	JRKL(NM_001261833:c.-80T>TG,NM_003772:c.-80T>TG)	JRKL(uc009ywu.4:c.-80T>TG,uc001pfy.2:c.-80T>TG)	ENSG00000183340(ENST00000458427:c.-80T>TG,ENST00000332349:c.-80T>TG)	Na	Na	Na	Na	Na	Na	Het;+G	66;3|2	Hom;+G	412;0|12
N	N	-	11	96125435	96125437	CTT	C	indel	UTR3	*47_*49delinsC	 	 	 	JRKL	Jrkl	ENSG00000183340	JRK like	chr11:96123153-96240738	The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]		 		GO:0007417;central nervous system development;TAS	GO:0005634;nucleus;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JRKL			https://www.ncbi.nlm.nih.gov/omim/?term=603211	http://www.informatics.jax.org/searchtool/Search.do?query=JRKL&submit=Quick%0D%14974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JRKL	rs10545425	0.308706	0.3599	0.3712	1	0	0	UTR3	UTR3	UTR3	JRKL(NM_001261833:c.*47_*49delinsC,NM_003772:c.*47_*49delinsC)	JRKL(uc009ywu.4:c.*47_*49delinsC,uc001pfy.2:c.*47_*49delinsC)	ENSG00000183340(ENST00000458427:c.*47_*49delinsC,ENST00000332349:c.*47_*49delinsC)	Na	Na	Na	Na	Na	Na	Het;-TT	272;37|10	Hom;-TT	1898;0|43
N	N	-	11	96997932	96997932	C	T	snp	intergenic	 	 	 	 	AP001836.1																		rs1793384	0.121406	0	0	1	0	0	intergenic	intergenic	intergenic	JRKL-AS1(dist=757891),CNTN5(dist=1893774)	JRKL-AS1(dist=757891),CNTN5(dist=1893774)	ENSG00000270753(dist=40250),ENSG00000255039(dist=95712)	Na	Na	Na	Na	Na	Na	Het;C>T	437;15|22	Hom;C>T	759;0|29
N	N	-	11	97998093	97998093	G	A	snp	intergenic	 	 	 	 	AP003730.2																		rs10891308	0.198882	0	0	1	0	0	intergenic	intergenic	intergenic	JRKL-AS1(dist=1758052),CNTN5(dist=893613)	JRKL-AS1(dist=1758052),CNTN5(dist=893613)	ENSG00000255502(dist=184331),ENSG00000255380(dist=2874)	Na	Na	Na	Na	Na	Na	Het;G>A	398;19|12	Hom;G>A	1320;0|34
N	N	-	11	97998103	97998103	T	C	snp	intergenic	 	 	 	 	AP003730.2																		rs11214061	0.207867	0	0	1	0	0	intergenic	intergenic	intergenic	JRKL-AS1(dist=1758062),CNTN5(dist=893603)	JRKL-AS1(dist=1758062),CNTN5(dist=893603)	ENSG00000255502(dist=184341),ENSG00000255380(dist=2864)	Na	Na	Na	Na	Na	Na	Het;T>C	383;16|11	Hom;T>C	1086;0|25
N	N	-	11	99527177	99527177	C	T	snp	intronic	 	 	 	 	CNTN5	Cntn5	ENSG00000149972	contactin 5	chr11:98891683-100229616	The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Carotid Stenosis; Frontal Lobe; Volumetric brain MRI; Lipoproteins; Fibrinogen; Blood Coagulation Factors; Alzheimer's disease; Heart Rate; Stroke; Hip; Brain; CD40 Ligand; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Body Height; Calcium; Heart Failure; longevity; Atrial Fibrillation; Psychiatric Disorders; Myocardial Infarction; Atrial fibrillation; Tunica Media; Platelet Aggregation	Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN5	https://www.uniprot.org/uniprot/O94779		https://www.ncbi.nlm.nih.gov/omim/?term=607219	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN5&submit=Quick%0D%9297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN5	rs634583	0.557508	0	0	1	0	0	intronic	intronic	intronic	CNTN5	CNTN5	ENSG00000149972	Na	Na	Na	Na	Na	Na	Het;C>T	282;6|10	Hom;C>T	600;1|19
N	N	-	11	99577089	99577089	T	C	snp	intronic	 	 	 	 	CNTN5	Cntn5	ENSG00000149972	contactin 5	chr11:98891683-100229616	The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Carotid Stenosis; Frontal Lobe; Volumetric brain MRI; Lipoproteins; Fibrinogen; Blood Coagulation Factors; Alzheimer's disease; Heart Rate; Stroke; Hip; Brain; CD40 Ligand; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Body Height; Calcium; Heart Failure; longevity; Atrial Fibrillation; Psychiatric Disorders; Myocardial Infarction; Atrial fibrillation; Tunica Media; Platelet Aggregation	Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN5	https://www.uniprot.org/uniprot/O94779		https://www.ncbi.nlm.nih.gov/omim/?term=607219	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN5&submit=Quick%0D%9297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN5	rs614514	0.46885	0	0	1	0	0	intronic	intronic	intronic	CNTN5	CNTN5	ENSG00000149972	Na	Na	Na	Na	Na	Na	Het;T>C	513;26|23	Hom;T>C	2546;0|61
N	N	-	12	100708367	100708367	C	T	snp	nonsynonymous SNV	C1070T	P357L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SCYL2	Scyl2	ENSG00000136021	SCY1 like pseudokinase 2	chr12:100660918-100735502	The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]		Mice homozygous for a knock-out allele exhibit neonatal lethality, absent gastric milk in neonates, postnatal growth retardation, sensory-motor deficits and limb grapsing. Mice homozygous for a conditional allele exhibit similar phenotypes with near complete loss of CA3 neurons.		GO:0002092;positive regulation of receptor internalization;IDA|GO:0006468;protein phosphorylation;IEA|GO:0008333;endosome to lysosome transport;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000286;receptor internalization involved in canonical Wnt signaling pathway;IDA|GO:2000370;positive regulation of clathrin-dependent endocytosis;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004672;protein kinase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCYL2	https://www.uniprot.org/uniprot/Q6P3W7		https://www.ncbi.nlm.nih.gov/omim/?term=616365	http://www.informatics.jax.org/searchtool/Search.do?query=SCYL2&submit=Quick%0D%7271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCYL2	rs33968174	0.0353435	0.0856	0.0838	0.69	9	13	exonic	exonic	exonic	SCYL2	SCYL2	ENSG00000136021	nonsynonymous SNV	nonsynonymous SNV	unknown	SCYL2:NM_017988:exon8:c.C1070T:p.P357L,	SCYL2:uc009ztw.1:exon7:c.C551T:p.P184L,SCYL2:uc001thn.3:exon8:c.C1070T:p.P357L,SCYL2:uc001thm.1:exon8:c.C1070T:p.P357L,	UNKNOWN	Het;C>T	709;104|47	Hom;C>T	2898;0|109
N	N	-	12	10089411	10089411	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100506159																		rs1407900	0.239816	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100506159	CLEC2A(dist=4431),CLEC12A(dist=14504)	ENSG00000225231	Na	Na	Na	Na	Na	Na	Het;T>C	1070;50|50	Hom;T>C	3293;0|116
N	N	-	12	10095112	10095112	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100506159																		rs10772222	0.466853	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100506159	CLEC2A(dist=10132),CLEC12A(dist=8803)	ENSG00000225231	Na	Na	Na	Na	Na	Na	Het;C>T	479;48|27	Hom;C>T	1613;0|62
N	N	-	12	100972649	100972649	A	T	snp	ncRNA_exonic	 	 	 	 	AC010200.1																		rs35709	0.605232	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GAS2L3	GAS2L3	ENSG00000257803	Na	Na	Na	Na	Na	Na	Het;A>T	511;18|22	Hom;A>T	806;0|27
N	N	-	12	100973159	100973159	T	C	snp	ncRNA_exonic	 	 	 	 	AC010200.1																		rs35708	0.661142	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GAS2L3	GAS2L3	ENSG00000257803	Na	Na	Na	Na	Na	Na	Het;T>C	679;16|29	Hom;T>C	2151;0|81
N	N	-	12	100973709	100973709	C	T	snp	ncRNA_exonic	 	 	 	 	AC010200.1																		rs35707	0.603035	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GAS2L3	GAS2L3	ENSG00000257803	Na	Na	Na	Na	Na	Na	Het;C>T	322;10|15	Hom;C>T	706;0|27
N	N	-	12	100974593	100974593	G	A	snp	intronic	 	 	 	 	GAS2L3	Gas2l3	ENSG00000139354	growth arrest specific 2 like 3	chr12:100967461-101022064			Mice homozygous for a null allele display partial postnatal lethality with none surviving past 4 months, dilated cardiomyopathy, cardiac interstitial fibrosis, and premature binucleation of cardiomyocytes.		GO:0000226;microtubule cytoskeleton organization;IDA|GO:0030036;actin cytoskeleton organization;IDA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0015630;microtubule cytoskeleton;IDA	GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GAS2L3	https://www.uniprot.org/uniprot/Q86XJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617224	http://www.informatics.jax.org/searchtool/Search.do?query=GAS2L3&submit=Quick%0D%7878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS2L3	rs35706	0.605232	0	0	1	0	0	intronic	intronic	intronic	GAS2L3	GAS2L3	ENSG00000139354	Na	Na	Na	Na	Na	Na	Het;G>A	275;29|16	Hom;G>A	1278;0|42
N	N	-	12	100974894	100974894	G	A	snp	intronic	 	 	 	 	GAS2L3	Gas2l3	ENSG00000139354	growth arrest specific 2 like 3	chr12:100967461-101022064			Mice homozygous for a null allele display partial postnatal lethality with none surviving past 4 months, dilated cardiomyopathy, cardiac interstitial fibrosis, and premature binucleation of cardiomyocytes.		GO:0000226;microtubule cytoskeleton organization;IDA|GO:0030036;actin cytoskeleton organization;IDA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0015630;microtubule cytoskeleton;IDA	GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GAS2L3	https://www.uniprot.org/uniprot/Q86XJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617224	http://www.informatics.jax.org/searchtool/Search.do?query=GAS2L3&submit=Quick%0D%7878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS2L3	rs35705	0.605431	0	0	1	0	0	intronic	intronic	intronic	GAS2L3	GAS2L3	ENSG00000139354	Na	Na	Na	Na	Na	Na	Het;G>A	779;58|39	Hom;G>A	2241;0|84
N	N	-	12	101117255	101117255	A	G	snp	intronic	 	 	 	 	ANO4	Ano4	ENSG00000262139	anoctamin 4	chr12:101111304-101522419		Cholesterol, HDL; Heart Failure; Body Mass Index	 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;ISS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO4	https://www.uniprot.org/uniprot/Q32M45		https://www.ncbi.nlm.nih.gov/omim/?term=610111	http://www.informatics.jax.org/searchtool/Search.do?query=ANO4&submit=Quick%0D%20457ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO4	rs7315552	0.379193	0	0	1	0	0	intergenic	intergenic	intronic	GAS2L3(dist=95189),ANO4(dist=71119)	Mir_652(dist=72127),NONE(dist=NONE)	ENSG00000151572	Na	Na	Na	Na	Na	Na	Het;A>G	39;4|2	Hom;A>G	71;0|4
N	N	-	12	101462039	101462039	A	G	snp	ncRNA_intronic	 	 	 	 	AC063947.2																		rs613778	0.779153	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ANO4	ANO4	ENSG00000258033	Na	Na	Na	Na	Na	Na	Het;A>G	469;18|20	Hom;A>G	1309;0|45
N	N	-	12	101491375	101491375	G	A	snp	intronic	 	 	 	 	ANO4	Ano4	ENSG00000262139	anoctamin 4	chr12:101111304-101522419		Cholesterol, HDL; Heart Failure; Body Mass Index	 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;ISS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO4	https://www.uniprot.org/uniprot/Q32M45		https://www.ncbi.nlm.nih.gov/omim/?term=610111	http://www.informatics.jax.org/searchtool/Search.do?query=ANO4&submit=Quick%0D%20457ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO4	rs1842888	0.497204	0.4936	0	1	0	0	intronic	intronic	intronic	ANO4	ANO4	ENSG00000151572	Na	Na	Na	Na	Na	Na	Het;G>A	826;39|39	Hom;G>A	1114;0|40
N	N	-	12	10151762	10151762	T	TC	indel	UTR5	-63A>GA	 	 	 	CLEC1B	Clec1b	ENSG00000165682	C-type lectin domain family 1 member B	chr12:10138241-10166023	Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]	Cholesterol, HDL; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; Albuminuria	Mice homozygous for a knock-out allele exhibit congestion and hemorrhages during embryogenesis with prenatal and postnatal lethality. Mice homozygous for another knock-out allele exhibit blood-lymph mixing, impaired PDPN-Fc-mediated platelet activation, and intestinal edema.	GPVI-mediated activation cascade	GO:0006952;defense response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0023014;signal transduction by protein phosphorylation;IDA|GO:0030168;platelet activation;TAS|GO:0030220;platelet formation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLEC1B			https://www.ncbi.nlm.nih.gov/omim/?term=606783	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC1B&submit=Quick%0D%11599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC1B	rs11379994	0.65595	0.6771	0	1	0	0	UTR5	UTR5	UTR5	CLEC1B(NM_016509:c.-63A>GA,NM_001099431:c.-63A>GA)	CLEC1B(uc001qwu.3:c.-63A>GA,uc009zhd.3:c.-63A>GA)	ENSG00000165682(ENST00000428126:c.-63A>GA,ENST00000298527:c.-63A>GA,ENST00000348658:c.-63A>GA)	Na	Na	Na	Na	Na	Na	Het;+C	1334;41|40	Hom;+C	1596;0|41
N	N	-	12	101520648	101520648	C	CTG	indel	intronic	 	 	 	 	ANO4	Ano4	ENSG00000262139	anoctamin 4	chr12:101111304-101522419		Cholesterol, HDL; Heart Failure; Body Mass Index	 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;ISS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO4	https://www.uniprot.org/uniprot/Q32M45		https://www.ncbi.nlm.nih.gov/omim/?term=610111	http://www.informatics.jax.org/searchtool/Search.do?query=ANO4&submit=Quick%0D%20457ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO4	rs3832861	0.508187	0.4879	0.4026	1	0	0	intronic	intronic	intronic	ANO4	ANO4	ENSG00000151572	Na	Na	Na	Na	Na	Na	Het;+TG	474;8|14	Hom;+TG	1652;0|37
N	N	-	12	10163375	10163375	C	A	snp	nonsynonymous SNV	C17A	T6N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CLEC12B	Clec12b	ENSG00000256660	C-type lectin domain family 12 member B	chr12:10163226-10171218			 			GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLEC12B				http://www.informatics.jax.org/searchtool/Search.do?query=CLEC12B&submit=Quick%0D%20201ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC12B	rs1359082	0.3125	0.3808	0.3527	0.62	8	13	exonic	exonic	exonic	CLEC12B	CLEC12B	ENSG00000256660	nonsynonymous SNV	nonsynonymous SNV	unknown	CLEC12B:NM_001129998:exon1:c.C17A:p.T6N,CLEC12B:NM_205852:exon1:c.C17A:p.T6N,	CLEC12B:uc001qwx.2:exon1:c.C17A:p.T6N,CLEC12B:uc001qwz.2:exon1:c.C17A:p.T6N,	UNKNOWN	Het;C>A	567;43|31	Hom;C>A	2152;1|66
N	N	-	12	101870804	101870804	G	A	snp	upstream	 	 	 	 	SPIC	Spic	ENSG00000166211	Spi-C transcription factor	chr12:101869199-101880775	The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016]		Homozygote null mice have prenatal lethality with incomplete penetrance, absent red pulp macrophages, decreased phagocytosis of senescent red blood cell, and enlargement of spleens with age due to an increase in splenic iron levels.		GO:0001824;blastocyst development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030154;cell differentiation;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPIC			https://www.ncbi.nlm.nih.gov/omim/?term=612568	http://www.informatics.jax.org/searchtool/Search.do?query=SPIC&submit=Quick%0D%11730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIC	rs7979430	0.348642	0	0	1	0	0	upstream	intronic	intronic	SPIC	SPIC	ENSG00000166211	Na	Na	Na	Na	Na	Na	Het;G>A	54;5|3	Hom;G>A	284;0|9
N	N	-	12	10191746	10191746	T	C	snp	intronic	 	 	 	 	CLEC9A	Clec9a	ENSG00000197992	C-type lectin domain containing 9A	chr12:10183276-10218565	CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]	Alkaline Phosphatase	Homozygous null mice have CD8alpha+ dendritic cells that are defective in cross-presentation of dead-cell associated antigens.		GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLEC9A			https://www.ncbi.nlm.nih.gov/omim/?term=612252	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC9A&submit=Quick%0D%16779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC9A	rs10845026	0.327875	0	0	1	0	0	intronic	intronic	intronic	CLEC9A	CLEC9A	ENSG00000197992	Na	Na	Na	Na	Na	Na	Het;T>C	711;33|33	Hom;T>C	1522;0|57
N	N	-	12	102020810	102020810	G	A	snp	intronic	 	 	 	 	MYBPC1	Mybpc1	ENSG00000196091	myosin binding protein C, slow type	chr12:101962131-102079796	This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 	Striated Muscle Contraction	GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;IBA|GO:0030016;myofibril;ISS|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0031432;titin binding;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYBPC1		https://hpo.jax.org/app/browse/search?q=MYBPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160794	http://www.informatics.jax.org/searchtool/Search.do?query=MYBPC1&submit=Quick%0D%16251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPC1	rs825074	0.170527	0	0	1	0	0	intronic	intronic	intronic	MYBPC1	MYBPC1	ENSG00000196091	Na	Na	Na	Na	Na	Na	Het;G>A	262;7|11	Hom;G>A	485;0|15
N	N	-	12	102025926	102025926	C	G	snp	intronic	 	 	 	 	MYBPC1	Mybpc1	ENSG00000196091	myosin binding protein C, slow type	chr12:101962131-102079796	This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 	Striated Muscle Contraction	GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;IBA|GO:0030016;myofibril;ISS|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0031432;titin binding;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYBPC1		https://hpo.jax.org/app/browse/search?q=MYBPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160794	http://www.informatics.jax.org/searchtool/Search.do?query=MYBPC1&submit=Quick%0D%16251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPC1	rs61935677	0.180711	0.2177	0.1901	1	0	0	intronic	intronic	intronic	MYBPC1	MYBPC1	ENSG00000196091	Na	Na	Na	Na	Na	Na	Het;C>G	627;60|33	Hom;C>G	2829;0|96
N	N	-	12	102042985	102042985	A	AT	indel	ncRNA_intronic	 	 	 	 	AC117505.1																		rs3215353	0.158946	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;+T	261;5|12	Hom;+T	303;0|11
N	N	-	12	102043301	102043301	G	A	snp	ncRNA_intronic	 	 	 	 	AC117505.1																		rs2272336	0.141374	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;G>A	133;4|6	Hom;G>A	305;0|10
N	N	-	12	102043349	102043349	T	A	snp	ncRNA_intronic	 	 	 	 	AC117505.1																		rs11110914	0.158746	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;T>A	38;2|2	Hom;T>A	123;0|4
N	N	-	12	102045231	102045231	C	T	snp	ncRNA_intronic	 	 	 	 	AC117505.1																		rs10860759	0.141374	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;C>T	622;35|30	Hom;C>T	2026;1|73
N	N	-	12	102045298	102045298	C	T	snp	ncRNA_intronic	 	 	 	 	AC117505.1																		rs10860760	0.158746	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;C>T	190;11|9	Hom;C>T	682;0|22
N	N	-	12	102046394	102046394	C	T	snp	ncRNA_intronic	 	 	 	 	AC117505.1																		rs1997205	0.640575	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;C>T	590;24|26	Hom;C>T	1545;0|56
N	N	-	12	102046874	102046875	AC	A	indel	ncRNA_intronic	 	 	 	 	AC117505.1																		rs3835190	0.158746	0.2369	0.2245	1	0	0	intronic	intronic	ncRNA_intronic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;-C	1224;29|36	Hom;-C	1995;0|51
N	N	-	12	102053675	102053675	C	T	snp	ncRNA_exonic	 	 	 	 	AC117505.1																		rs17511481	0.159345	0	0	1	0	0	intronic	intronic	ncRNA_exonic	MYBPC1	MYBPC1	ENSG00000257514	Na	Na	Na	Na	Na	Na	Het;C>T	270;11|11	Hom;C>T	1273;0|45
N	N	-	12	102053753	102053753	C	G	snp	intronic	 	 	 	 	MYBPC1	Mybpc1	ENSG00000196091	myosin binding protein C, slow type	chr12:101962131-102079796	This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 	Striated Muscle Contraction	GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;IBA|GO:0030016;myofibril;ISS|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0031432;titin binding;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYBPC1		https://hpo.jax.org/app/browse/search?q=MYBPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160794	http://www.informatics.jax.org/searchtool/Search.do?query=MYBPC1&submit=Quick%0D%16251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPC1	rs12372616	0.159345	0	0	1	0	0	intronic	intronic	intronic	MYBPC1	MYBPC1	ENSG00000196091	Na	Na	Na	Na	Na	Na	Het;C>G	50;2|2	Hom;C>G	197;0|5
N	N	-	12	102057166	102057166	T	C	snp	intronic	 	 	 	 	MYBPC1	Mybpc1	ENSG00000196091	myosin binding protein C, slow type	chr12:101962131-102079796	This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 	Striated Muscle Contraction	GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;IBA|GO:0030016;myofibril;ISS|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0031432;titin binding;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYBPC1		https://hpo.jax.org/app/browse/search?q=MYBPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160794	http://www.informatics.jax.org/searchtool/Search.do?query=MYBPC1&submit=Quick%0D%16251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPC1	rs2254631	0.550319	0.6390	0.6555	1	0	0	intronic	intronic	intronic	MYBPC1	MYBPC1	ENSG00000196091	Na	Na	Na	Na	Na	Na	Het;T>C	459;21|17	Hom;T>C	1484;0|48
N	N	-	12	102069077	102069077	A	G	snp	synonymous SNV	A2706G	P902P	hydrophobic,neutral	hydrophobic,neutral	MYBPC1	Mybpc1	ENSG00000196091	myosin binding protein C, slow type	chr12:101962131-102079796	This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 	Striated Muscle Contraction	GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;IBA|GO:0030016;myofibril;ISS|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0031432;titin binding;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYBPC1		https://hpo.jax.org/app/browse/search?q=MYBPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160794	http://www.informatics.jax.org/searchtool/Search.do?query=MYBPC1&submit=Quick%0D%16251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPC1	rs764291	0.14357	0.2146	0.2217	1	0	0	exonic	exonic	exonic	MYBPC1	MYBPC1	ENSG00000196091	synonymous SNV	synonymous SNV	unknown	MYBPC1:NM_206819:exon26:c.A2817G:p.P939P,MYBPC1:NM_001254721:exon23:c.A2685G:p.P895P,MYBPC1:NM_206821:exon24:c.A2742G:p.P914P,MYBPC1:NM_001254723:exon23:c.A2703G:p.P901P,MYBPC1:NM_001254722:exon22:c.A2664G:p.P888P,MYBPC1:NM_001254720:exon23:c.A2706G:p.P902P,MYBPC1:NM_001254718:exon25:c.A2796G:p.P932P,MYBPC1:NM_001254719:exon24:c.A2742G:p.P914P,MYBPC1:NM_002465:exon26:c.A2817G:p.P939P,MYBPC1:NM_206820:exon25:c.A2796G:p.P932P,	MYBPC1:uc010svt.2:exon23:c.A2706G:p.P902P,MYBPC1:uc010svu.2:exon23:c.A2685G:p.P895P,MYBPC1:uc001tig.3:exon26:c.A2817G:p.P939P,MYBPC1:uc001tih.3:exon26:c.A2817G:p.P939P,MYBPC1:uc010svr.2:exon24:c.A2742G:p.P914P,MYBPC1:uc001tii.3:exon25:c.A2796G:p.P932P,MYBPC1:uc001tik.3:exon22:c.A2664G:p.P888P,MYBPC1:uc001tij.3:exon24:c.A2742G:p.P914P,MYBPC1:uc010svq.2:exon23:c.A2703G:p.P901P,MYBPC1:uc010svs.2:exon25:c.A2796G:p.P932P,	UNKNOWN	Het;A>G	648;41|29	Hom;A>G	1787;2|65
N	N	-	12	10206925	10206925	A	G	snp	synonymous SNV	A147G	T49T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CLEC9A	Clec9a	ENSG00000197992	C-type lectin domain containing 9A	chr12:10183276-10218565	CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]	Alkaline Phosphatase	Homozygous null mice have CD8alpha+ dendritic cells that are defective in cross-presentation of dead-cell associated antigens.		GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLEC9A			https://www.ncbi.nlm.nih.gov/omim/?term=612252	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC9A&submit=Quick%0D%16779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC9A	rs7315231	0.373802	0.5522	0.5561	1	0	0	exonic	exonic	exonic	CLEC9A	CLEC9A	ENSG00000197992	synonymous SNV	synonymous SNV	unknown	CLEC9A:NM_207345:exon5:c.A147G:p.T49T,	CLEC9A:uc001qxa.3:exon5:c.A147G:p.T49T,	UNKNOWN	Het;A>G	1315;59|60	Hom;A>G	2925;0|109
N	N	-	12	102078094	102078094	G	C	snp	intronic	 	 	 	 	MYBPC1	Mybpc1	ENSG00000196091	myosin binding protein C, slow type	chr12:101962131-102079796	This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 	Striated Muscle Contraction	GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;IBA|GO:0030016;myofibril;ISS|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0031432;titin binding;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYBPC1		https://hpo.jax.org/app/browse/search?q=MYBPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160794	http://www.informatics.jax.org/searchtool/Search.do?query=MYBPC1&submit=Quick%0D%16251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPC1	rs2303629	0.387181	0.3616	0	1	0	0	intronic	intronic	intronic	MYBPC1	MYBPC1	ENSG00000196091	Na	Na	Na	Na	Na	Na	Het;G>C	112;7|6	Hom;G>C	144;0|5
N	N	-	12	102110692	102110694	ATT	A	indel	intronic	 	 	 	 	CHPT1	Chpt1	ENSG00000111666	choline phosphotransferase 1	chr12:102090725-102137918		Lipoproteins, VLDL	 	Synthesis of PC	GO:0001558;regulation of cell growth;NAS|GO:0006629;lipid metabolic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;NAS|GO:0006663;platelet activating factor biosynthetic process;IDA|GO:0008654;phospholipid biosynthetic process;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;NAS	GO:0004142;diacylglycerol cholinephosphotransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016780;phosphotransferase activity, for other substituted phosphate groups;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHPT1	https://www.uniprot.org/uniprot/Q8WUD6		https://www.ncbi.nlm.nih.gov/omim/?term=616747	http://www.informatics.jax.org/searchtool/Search.do?query=CHPT1&submit=Quick%0D%4104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHPT1	rs535338745	0.124401	0	0	1	0	0	intronic	intronic	intronic	CHPT1	CHPT1	ENSG00000111666	Na	Na	Na	Na	Na	Na	Het;-TT	399;8|15	Hom;-TT	728;3|24
N	N	-	12	102117149	102117149	G	A	snp	intronic	 	 	 	 	CHPT1	Chpt1	ENSG00000111666	choline phosphotransferase 1	chr12:102090725-102137918		Lipoproteins, VLDL	 	Synthesis of PC	GO:0001558;regulation of cell growth;NAS|GO:0006629;lipid metabolic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;NAS|GO:0006663;platelet activating factor biosynthetic process;IDA|GO:0008654;phospholipid biosynthetic process;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;NAS	GO:0004142;diacylglycerol cholinephosphotransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016780;phosphotransferase activity, for other substituted phosphate groups;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHPT1	https://www.uniprot.org/uniprot/Q8WUD6		https://www.ncbi.nlm.nih.gov/omim/?term=616747	http://www.informatics.jax.org/searchtool/Search.do?query=CHPT1&submit=Quick%0D%4104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHPT1	rs11110979	0.0926518	0.0993	0.1103	1	0	0	intronic	intronic	intronic	CHPT1	CHPT1	ENSG00000111666	Na	Na	Na	Na	Na	Na	Het;G>A	276;33|15	Hom;G>A	1899;1|69
N	N	-	12	102117589	102117589	C	T	snp	synonymous SNV	C1029T	N343N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CHPT1	Chpt1	ENSG00000111666	choline phosphotransferase 1	chr12:102090725-102137918		Lipoproteins, VLDL	 	Synthesis of PC	GO:0001558;regulation of cell growth;NAS|GO:0006629;lipid metabolic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;NAS|GO:0006663;platelet activating factor biosynthetic process;IDA|GO:0008654;phospholipid biosynthetic process;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;NAS	GO:0004142;diacylglycerol cholinephosphotransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016780;phosphotransferase activity, for other substituted phosphate groups;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHPT1	https://www.uniprot.org/uniprot/Q8WUD6		https://www.ncbi.nlm.nih.gov/omim/?term=616747	http://www.informatics.jax.org/searchtool/Search.do?query=CHPT1&submit=Quick%0D%4104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHPT1	rs11082	0.698882	0.6058	0.5980	1	0	0	exonic	exonic	exonic	CHPT1	CHPT1	ENSG00000111666	synonymous SNV	synonymous SNV	unknown	CHPT1:NM_020244:exon7:c.C1029T:p.N343N,	CHPT1:uc001tip.1:exon7:c.C1029T:p.N343N,CHPT1:uc001tin.3:exon7:c.C1029T:p.N343N,	UNKNOWN	Het;C>T	1361;69|68	Hom;C>T	3454;0|127
N	N	-	12	102120289	102120289	C	A	snp	UTR3	*86C>A	 	 	 	CHPT1	Chpt1	ENSG00000111666	choline phosphotransferase 1	chr12:102090725-102137918		Lipoproteins, VLDL	 	Synthesis of PC	GO:0001558;regulation of cell growth;NAS|GO:0006629;lipid metabolic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;NAS|GO:0006663;platelet activating factor biosynthetic process;IDA|GO:0008654;phospholipid biosynthetic process;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;NAS	GO:0004142;diacylglycerol cholinephosphotransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016780;phosphotransferase activity, for other substituted phosphate groups;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHPT1	https://www.uniprot.org/uniprot/Q8WUD6		https://www.ncbi.nlm.nih.gov/omim/?term=616747	http://www.informatics.jax.org/searchtool/Search.do?query=CHPT1&submit=Quick%0D%4104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHPT1	rs7965541	0.392173	0	0	1	0	0	intronic	UTR3	UTR3	CHPT1	CHPT1(uc001tip.1:c.*86C>A)	ENSG00000111666(ENST00000549872:c.*86C>A,ENST00000552215:c.*653C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	277;3|10	Hom;C>A	499;0|16
N	N	-	12	102133411	102133411	T	C	snp	upstream	 	 	 	 	SYCP3	Sycp3	ENSG00000139351	synaptonemal complex protein 3	chr12:102122426-102133250	This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]	pregnancy loss; azoospermia	Homozygous mutants are male infertile and female sub-fertile. Reduced litter size in females is due to achiasmatic oocytes, resulting in aneuploidy and embryonic death. Meiosis in males blocks at early prophase with lack of synaptonemal complexes.	Meiotic synapsis	GO:0007049;cell cycle;IEA|GO:0007141;male meiosis I;NAS|GO:0035093;spermatogenesis, exchange of chromosomal proteins;IMP|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0007141;male meiosis I;NAS|GO:0035093;spermatogenesis, exchange of chromosomal proteins;IMP|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000795;synaptonemal complex;IDA|GO:0000800;lateral element;ISS|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SYCP3	https://www.uniprot.org/uniprot/Q8IZU3	https://hpo.jax.org/app/browse/search?q=SYCP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604759	http://www.informatics.jax.org/searchtool/Search.do?query=SYCP3&submit=Quick%0D%162ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYCP3	rs9308314	0.69988	0	0	1	0	0	upstream	upstream	intronic	SYCP3	SYCP3	ENSG00000111666	Na	Na	Na	Na	Na	Na	Het;T>C	34;4|2	Hom;T>C	221;0|6
N	N	-	12	102154900	102154900	A	G	snp	intronic	 	 	 	 	GNPTAB	Gnptab	ENSG00000111670	N-acetylglucosamine-1-phosphate transferase alpha and beta subunits	chr12:102139275-102224716	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]	Mucolipidoses; Tobacco Use Disorder; null	Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death.		GO:0007040;lysosome organization;IMP|GO:0009306;protein secretion;IEA|GO:0016256;N-glycan processing to lysosome;IMP|GO:0033299;secretion of lysosomal enzymes;IEA|GO:0046835;carbohydrate phosphorylation;IDA	GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003976;UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016772;transferase activity, transferring phosphorus-containing groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPTAB	https://www.uniprot.org/uniprot/Q3T906	https://hpo.jax.org/app/browse/search?q=GNPTAB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607840	http://www.informatics.jax.org/searchtool/Search.do?query=GNPTAB&submit=Quick%0D%4107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPTAB	rs759935	0.690495	0.5967	0.6015	1	0	0	intronic	intronic	intronic	GNPTAB	GNPTAB	ENSG00000111670	Na	Na	Na	Na	Na	Na	Het;A>G	384;8|14	Hom;A>G	834;0|31
N	N	-	12	10215582	10215582	G	A	snp	intronic	 	 	 	 	CLEC9A	Clec9a	ENSG00000197992	C-type lectin domain containing 9A	chr12:10183276-10218565	CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]	Alkaline Phosphatase	Homozygous null mice have CD8alpha+ dendritic cells that are defective in cross-presentation of dead-cell associated antigens.		GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLEC9A			https://www.ncbi.nlm.nih.gov/omim/?term=612252	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC9A&submit=Quick%0D%16779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC9A	rs10772230	0.371605	0	0	1	0	0	intronic	intronic	intronic	CLEC9A	CLEC9A	ENSG00000197992	Na	Na	Na	Na	Na	Na	Het;G>A	126;10|7	Hom;G>A	407;0|13
N	N	-	12	102158763	102158763	T	C	snp	synonymous SNV	A1932G	T644T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GNPTAB	Gnptab	ENSG00000111670	N-acetylglucosamine-1-phosphate transferase alpha and beta subunits	chr12:102139275-102224716	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]	Mucolipidoses; Tobacco Use Disorder; null	Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death.		GO:0007040;lysosome organization;IMP|GO:0009306;protein secretion;IEA|GO:0016256;N-glycan processing to lysosome;IMP|GO:0033299;secretion of lysosomal enzymes;IEA|GO:0046835;carbohydrate phosphorylation;IDA	GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003976;UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016772;transferase activity, transferring phosphorus-containing groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPTAB	https://www.uniprot.org/uniprot/Q3T906	https://hpo.jax.org/app/browse/search?q=GNPTAB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607840	http://www.informatics.jax.org/searchtool/Search.do?query=GNPTAB&submit=Quick%0D%4107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPTAB	rs10778148	0.651358	0.5625	0.5885	1	0	0	exonic	exonic	exonic	GNPTAB	GNPTAB	ENSG00000111670	synonymous SNV	synonymous SNV	unknown	GNPTAB:NM_024312:exon13:c.A1932G:p.T644T,	GNPTAB:uc001tit.3:exon13:c.A1932G:p.T644T,	UNKNOWN	Het;T>C	2035;92|95	Hom;T>C	4367;0|156
N	N	-	12	102166912	102166912	A	C	snp	ncRNA_exonic	 	 	 	 	AC063950.1																		rs7134161	0.701677	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GNPTAB	GNPTAB	ENSG00000258230	Na	Na	Na	Na	Na	Na	Het;A>C	78;8|6	Hom;A>C	71;0|4
N	N	-	12	102224491	102224494	AGCC	A	indel	UTR5	-38_-41delinsT	 	 	 	GNPTAB	Gnptab	ENSG00000111670	N-acetylglucosamine-1-phosphate transferase alpha and beta subunits	chr12:102139275-102224716	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]	Mucolipidoses; Tobacco Use Disorder; null	Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death.		GO:0007040;lysosome organization;IMP|GO:0009306;protein secretion;IEA|GO:0016256;N-glycan processing to lysosome;IMP|GO:0033299;secretion of lysosomal enzymes;IEA|GO:0046835;carbohydrate phosphorylation;IDA	GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003976;UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016772;transferase activity, transferring phosphorus-containing groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPTAB	https://www.uniprot.org/uniprot/Q3T906	https://hpo.jax.org/app/browse/search?q=GNPTAB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607840	http://www.informatics.jax.org/searchtool/Search.do?query=GNPTAB&submit=Quick%0D%4107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPTAB	rs76300806	0.702276	0.2328	0.4186	1	0	0	UTR5	UTR5	UTR5	GNPTAB(NM_024312:c.-38_-41delinsT)	GNPTAB(uc001tit.3:c.-38_-41delinsT,uc001tiu.2:c.-38_-41delinsT)	ENSG00000111670(ENST00000299314:c.-38_-41delinsT,ENST00000549940:c.-38_-41delinsT,ENST00000392919:c.-38_-41delinsT)	Na	Na	Na	Na	Na	Na	Het;-GCC	549;15|15	Hom;-GCC	1264;0|30
N	N	-	12	102295218	102295218	T	C	snp	intronic	 	 	 	 	DRAM1	Dram1	ENSG00000136048	DNA damage regulated autophagy modulator 1	chr12:102271129-102405908	This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]		 		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0010506;regulation of autophagy;IC	GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DRAM1	https://www.uniprot.org/uniprot/Q8N682		https://www.ncbi.nlm.nih.gov/omim/?term=610776	http://www.informatics.jax.org/searchtool/Search.do?query=DRAM1&submit=Quick%0D%7276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DRAM1	rs7295569	0.742612	0.5175	0.6195	1	0	0	intronic	intronic	intronic	DRAM1	DRAM1	ENSG00000136048	Na	Na	Na	Na	Na	Na	Het;T>C	1680;69|76	Hom;T>C	5186;0|137
N	N	-	12	102793569	102793569	C	T	snp	ncRNA_exonic	 	 	 	 	JX088243																		rs6214	0.426917	0	0	1	0	0	UTR3	ncRNA_exonic	UTR3	IGF1(NM_000618:c.*2716G>A,NM_001111284:c.*2716G>A,NM_001111283:c.*2750G>A)	JX088243	ENSG00000017427(ENST00000456098:c.*2750G>A,ENST00000337514:c.*2716G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	214;20|12	Hom;C>T	811;0|29
N	N	-	12	102793909	102793909	C	CT	indel	ncRNA_exonic	 	 	 	 	JX088243																		rs35359199	0	0	0	1	0	0	UTR3	ncRNA_exonic	UTR3	IGF1(NM_000618:c.*2376G>AG,NM_001111284:c.*2376G>AG,NM_001111283:c.*2410G>AG)	JX088243	ENSG00000017427(ENST00000456098:c.*2410G>AG,ENST00000337514:c.*2376G>AG)	Na	Na	Na	Na	Na	Na	Het;+T	200;40|18	Hom;+T	473;4|24
N	N	-	12	103204623	103204623	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00485																		rs55764515	0.319289	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00485	LINC00485	ENSG00000258169	Na	Na	Na	Na	Na	Na	Het;G>A	118;4|5	Hom;G>A	181;0|6
N	N	-	12	103205977	103205977	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00485																		rs10745952	0.340655	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00485	LINC00485	ENSG00000258169	Na	Na	Na	Na	Na	Na	Het;T>C	1372;75|65	Hom;T>C	3238;0|116
N	N	-	12	103214848	103214848	T	A	snp	ncRNA_intronic	 	 	 	 	LINC00485																		rs11111391	0.336661	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00485	LINC00485	ENSG00000258169	Na	Na	Na	Na	Na	Na	Het;T>A	107;13|7	Hom;T>A	595;0|20
N	N	-	12	103214894	103214894	A	T	snp	ncRNA_exonic	 	 	 	 	LINC00485																		rs7970865	0.336861	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00485	LINC00485	ENSG00000258169	Na	Na	Na	Na	Na	Na	Het;A>T	1078;29|29	Hom;A>T	1696;2|40
N	N	-	12	103214903	103214903	A	T	snp	ncRNA_exonic	 	 	 	 	LINC00485																		rs7970874	0.336861	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00485	LINC00485	ENSG00000258169	Na	Na	Na	Na	Na	Na	Het;A>T	1134;30|31	Hom;A>T	1887;2|47
N	N	-	12	103237909	103237909	T	A	snp	intronic	 	 	 	 	PAH	Pah	ENSG00000171759	phenylalanine hydroxylase	chr12:103230663-103352188	PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]	prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency	Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures.	Phenylalanine and tyrosine catabolism	GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAH		https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612349	http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH	rs10860929	0.330471	0	0	1	0	0	intronic	intronic	intronic	PAH	PAH	ENSG00000171759	Na	Na	Na	Na	Na	Na	Het;T>A	103;3|4	Hom;T>A	135;0|5
N	N	-	12	103238017	103238017	C	T	snp	intronic	 	 	 	 	PAH	Pah	ENSG00000171759	phenylalanine hydroxylase	chr12:103230663-103352188	PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]	prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency	Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures.	Phenylalanine and tyrosine catabolism	GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAH		https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612349	http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH	rs12580432	0.330471	0	0	1	0	0	intronic	intronic	intronic	PAH	PAH	ENSG00000171759	Na	Na	Na	Na	Na	Na	Het;C>T	398;25|20	Hom;C>T	1278;0|47
N	N	-	12	103246700	103246700	C	T	snp	synonymous SNV	G735A	V245V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PAH	Pah	ENSG00000171759	phenylalanine hydroxylase	chr12:103230663-103352188	PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]	prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency	Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures.	Phenylalanine and tyrosine catabolism	GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAH		https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612349	http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH	rs1042503	0.314896	0.1815	0.2906	1	0	0	exonic	exonic	exonic	PAH	PAH	ENSG00000171759	synonymous SNV	synonymous SNV	unknown	PAH:NM_000277:exon7:c.G735A:p.V245V,	PAH:uc001tjq.1:exon7:c.G735A:p.V245V,	UNKNOWN	Het;C>T	876;27|41	Hom;C>T	1813;0|70
N	N	-	12	103260273	103260273	T	G	snp	intronic	 	 	 	 	PAH	Pah	ENSG00000171759	phenylalanine hydroxylase	chr12:103230663-103352188	PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]	prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency	Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures.	Phenylalanine and tyrosine catabolism	GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAH		https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612349	http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH	rs10860933	0.302716	0	0	1	0	0	intronic	intronic	intronic	PAH	PAH	ENSG00000171759	Na	Na	Na	Na	Na	Na	Het;T>G	1315;54|64	Hom;T>G	2672;0|100
N	N	-	12	103271350	103271350	G	A	snp	intronic	 	 	 	 	PAH	Pah	ENSG00000171759	phenylalanine hydroxylase	chr12:103230663-103352188	PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]	prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency	Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures.	Phenylalanine and tyrosine catabolism	GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAH		https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612349	http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH	rs2037639	0.316494	0.1968	0.2761	1	0	0	intronic	intronic	intronic	PAH	PAH	ENSG00000171759	Na	Na	Na	Na	Na	Na	Het;G>A	1019;51|47	Hom;G>A	3575;0|130
N	N	-	12	104053955	104053955	A	G	snp	intronic	 	 	 	 	STAB2	Stab2	ENSG00000136011	stabilin 2	chr12:103981051-104160505	This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]	Calcium; Abdominal Fat; Stroke; F8 protein, human; Tobacco Use Disorder; Coronary Disease	Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis.	Scavenging by Class H Receptors	GO:0001525;angiogenesis;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007155;cell adhesion;NAS|GO:0010468;regulation of gene expression;IMP|GO:0030193;regulation of blood coagulation;IMP|GO:0030214;hyaluronan catabolic process;TAS|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STAB2	https://www.uniprot.org/uniprot/Q8WWQ8		https://www.ncbi.nlm.nih.gov/omim/?term=608561	http://www.informatics.jax.org/searchtool/Search.do?query=STAB2&submit=Quick%0D%7269ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB2	rs11111705	0.370208	0	0	1	0	0	intronic	intronic	intronic	STAB2	STAB2	ENSG00000136011	Na	Na	Na	Na	Na	Na	Het;A>G	203;1|6	Hom;A>G	134;0|4
N	N	-	12	104124061	104124061	A	G	snp	intronic	 	 	 	 	STAB2	Stab2	ENSG00000136011	stabilin 2	chr12:103981051-104160505	This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]	Calcium; Abdominal Fat; Stroke; F8 protein, human; Tobacco Use Disorder; Coronary Disease	Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis.	Scavenging by Class H Receptors	GO:0001525;angiogenesis;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007155;cell adhesion;NAS|GO:0010468;regulation of gene expression;IMP|GO:0030193;regulation of blood coagulation;IMP|GO:0030214;hyaluronan catabolic process;TAS|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STAB2	https://www.uniprot.org/uniprot/Q8WWQ8		https://www.ncbi.nlm.nih.gov/omim/?term=608561	http://www.informatics.jax.org/searchtool/Search.do?query=STAB2&submit=Quick%0D%7269ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB2	rs4981042	0.864018	0.7685	0.7653	1	0	0	intronic	intronic	intronic	STAB2	STAB2	ENSG00000136011	Na	Na	Na	Na	Na	Na	Het;A>G	1134;69|49	Hom;A>G	2188;0|80
N	N	-	12	104300091	104300091	C	T	snp	ncRNA_exonic	 	 	 	 	GNN																		rs10861141	0.303115	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	GNN	GNN(uc010swf.3:c.-23757G>A)	ENSG00000214198	Na	Na	Na	Na	Na	Na	Het;C>T	431;47|24	Hom;C>T	1480;0|56
N	N	-	12	104309559	104309559	C	T	snp	synonymous SNV	G87A	S29S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GNN																		rs73177924	0.144968	0	0.0994	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	GNN	GNN	ENSG00000214198	Na	synonymous SNV	Na	Na	GNN:uc009zuh.2:exon2:c.G87A:p.S29S,	Na	Het;C>T	2428;132|116	Hom;C>T	4647;2|176
N	N	-	12	104324182	104324182	C	G	snp	UTR5	-112C>G	 	 	 	HSP90B1	Hsp90b1	ENSG00000166598	heat shock protein 90 beta family member 1	chr12:104323885-104347423	This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]	ischemic neuronal cell death; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null mutation display embryonic lethality before somite formation with failure of primitive streak formation, absence of the chorion and amnion, and failure of mesoderm formation.	Post-translational protein phosphorylation	GO:0001666;response to hypoxia;IDA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0006457;protein folding;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006950;response to stress;IEA|GO:0015031;protein transport;NAS|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0031247;actin rod assembly;IDA|GO:0034975;protein folding in endoplasmic reticulum;TAS|GO:0034976;response to endoplasmic reticulum stress;TAS|GO:0036500;ATF6-mediated unfolded protein response;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043666;regulation of phosphoprotein phosphatase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051208;sequestering of calcium ion;NAS|GO:0071318;cellular response to ATP;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;IDA|GO:0034663;endoplasmic reticulum chaperone complex;IEA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019903;protein phosphatase binding;IDA|GO:0046790;virion binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IDA|GO:0051082;unfolded protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSP90B1			https://www.ncbi.nlm.nih.gov/omim/?term=191175	http://www.informatics.jax.org/searchtool/Search.do?query=HSP90B1&submit=Quick%0D%11836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSP90B1	rs2070908	0.447484	0	0.5127	1	0	0	UTR5	UTR5	UTR5	HSP90B1(NM_003299:c.-112C>G)	HSP90B1(uc001tkb.2:c.-112C>G,uc010swg.2:c.-9135C>G,uc009zui.2:c.-112C>G)	ENSG00000166598(ENST00000299767:c.-112C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	999;55|46	Hom;C>G	3272;0|114
N	N	-	12	104341015	104341015	T	C	snp	intronic	 	 	 	 	HSP90B1	Hsp90b1	ENSG00000166598	heat shock protein 90 beta family member 1	chr12:104323885-104347423	This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]	ischemic neuronal cell death; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null mutation display embryonic lethality before somite formation with failure of primitive streak formation, absence of the chorion and amnion, and failure of mesoderm formation.	Post-translational protein phosphorylation	GO:0001666;response to hypoxia;IDA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0006457;protein folding;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006950;response to stress;IEA|GO:0015031;protein transport;NAS|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0031247;actin rod assembly;IDA|GO:0034975;protein folding in endoplasmic reticulum;TAS|GO:0034976;response to endoplasmic reticulum stress;TAS|GO:0036500;ATF6-mediated unfolded protein response;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043666;regulation of phosphoprotein phosphatase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051208;sequestering of calcium ion;NAS|GO:0071318;cellular response to ATP;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;IDA|GO:0034663;endoplasmic reticulum chaperone complex;IEA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019903;protein phosphatase binding;IDA|GO:0046790;virion binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IDA|GO:0051082;unfolded protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSP90B1			https://www.ncbi.nlm.nih.gov/omim/?term=191175	http://www.informatics.jax.org/searchtool/Search.do?query=HSP90B1&submit=Quick%0D%11836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSP90B1	rs1165694	0.456869	0	0	1	0	0	intronic	intronic	intronic	HSP90B1	HSP90B1	ENSG00000166598	Na	Na	Na	Na	Na	Na	Het;T>C	90;9|4	Hom;T>C	569;0|18
N	N	-	12	104341103	104341103	C	T	snp	synonymous SNV	C1272T	P424P	hydrophobic,neutral	hydrophobic,neutral	HSP90B1	Hsp90b1	ENSG00000166598	heat shock protein 90 beta family member 1	chr12:104323885-104347423	This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]	ischemic neuronal cell death; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null mutation display embryonic lethality before somite formation with failure of primitive streak formation, absence of the chorion and amnion, and failure of mesoderm formation.	Post-translational protein phosphorylation	GO:0001666;response to hypoxia;IDA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0006457;protein folding;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006950;response to stress;IEA|GO:0015031;protein transport;NAS|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0031247;actin rod assembly;IDA|GO:0034975;protein folding in endoplasmic reticulum;TAS|GO:0034976;response to endoplasmic reticulum stress;TAS|GO:0036500;ATF6-mediated unfolded protein response;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043666;regulation of phosphoprotein phosphatase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051208;sequestering of calcium ion;NAS|GO:0071318;cellular response to ATP;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;IDA|GO:0034663;endoplasmic reticulum chaperone complex;IEA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019903;protein phosphatase binding;IDA|GO:0046790;virion binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IDA|GO:0051082;unfolded protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSP90B1			https://www.ncbi.nlm.nih.gov/omim/?term=191175	http://www.informatics.jax.org/searchtool/Search.do?query=HSP90B1&submit=Quick%0D%11836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSP90B1	rs7645	0.45627	0.4118	0.3742	1	0	0	exonic	exonic	exonic	HSP90B1	HSP90B1	ENSG00000166598	synonymous SNV	synonymous SNV	unknown	HSP90B1:NM_003299:exon17:c.C2277T:p.P759P,	HSP90B1:uc010swg.2:exon13:c.C1272T:p.P424P,HSP90B1:uc001tkb.2:exon17:c.C2277T:p.P759P,	UNKNOWN	Het;C>T	1099;65|52	Hom;C>T	3833;4|146
N	N	-	12	104341398	104341398	T	A	snp	intronic	 	 	 	 	HSP90B1	Hsp90b1	ENSG00000166598	heat shock protein 90 beta family member 1	chr12:104323885-104347423	This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]	ischemic neuronal cell death; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null mutation display embryonic lethality before somite formation with failure of primitive streak formation, absence of the chorion and amnion, and failure of mesoderm formation.	Post-translational protein phosphorylation	GO:0001666;response to hypoxia;IDA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0006457;protein folding;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006950;response to stress;IEA|GO:0015031;protein transport;NAS|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0031247;actin rod assembly;IDA|GO:0034975;protein folding in endoplasmic reticulum;TAS|GO:0034976;response to endoplasmic reticulum stress;TAS|GO:0036500;ATF6-mediated unfolded protein response;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043666;regulation of phosphoprotein phosphatase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051208;sequestering of calcium ion;NAS|GO:0071318;cellular response to ATP;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;IDA|GO:0034663;endoplasmic reticulum chaperone complex;IEA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019903;protein phosphatase binding;IDA|GO:0046790;virion binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IDA|GO:0051082;unfolded protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSP90B1			https://www.ncbi.nlm.nih.gov/omim/?term=191175	http://www.informatics.jax.org/searchtool/Search.do?query=HSP90B1&submit=Quick%0D%11836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSP90B1	rs1165695	0.457268	0.4111	0.3711	1	0	0	intronic	intronic	intronic	HSP90B1	HSP90B1	ENSG00000166598	Na	Na	Na	Na	Na	Na	Het;T>A	1079;43|50	Hom;T>A	1940;2|73
N	N	-	12	104345253	104345253	A	G	snp	UTR3	*48T>C	 	 	 	C12orf73	1190007I07Rik	ENSG00000204954	chromosome 12 open reading frame 73	chr12:104343980-104359486			 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C12orf73				http://www.informatics.jax.org/searchtool/Search.do?query=C12orf73&submit=Quick%0D%17434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf73	rs11111854	0.344848	0.2595	0.2512	1	0	0	UTR3	UTR3	UTR3	C12orf73(NM_001135570:c.*48T>C)	C12orf73(uc009zuj.2:c.*48T>C)	ENSG00000204954(ENST00000378090:c.*48T>C,ENST00000547975:c.*205T>C,ENST00000549478:c.*48T>C,ENST00000553183:c.*48T>C,ENST00000549960:c.*317T>C,ENST00000547945:c.*48T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	973;35|38	Hom;A>G	1599;0|49
N	N	-	12	104345412	104345412	C	CA	indel	intronic	 	 	 	 	C12orf73	1190007I07Rik	ENSG00000204954	chromosome 12 open reading frame 73	chr12:104343980-104359486			 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C12orf73				http://www.informatics.jax.org/searchtool/Search.do?query=C12orf73&submit=Quick%0D%17434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf73	rs3830654	0.456869	0.3931	0.3590	1	0	0	intronic	intronic	intronic	C12orf73	C12orf73	ENSG00000166598,ENSG00000204954	Na	Na	Na	Na	Na	Na	Het;+A	1160;41|52	Hom;+A	2073;0|78
N	N	-	12	104359647	104359647	G	A	snp	UTR5	-169G>A	 	 	 	TDG	Tdg-ps	ENSG00000139372	thymine DNA glycosylase	chr12:104359582-104382652	The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]	lung cancer; Graft vs Host Disease; bladder cancer; DNA Damage|; Hematologic Neoplasms; Tobacco Use Disorder; multiple sclerosis; null; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit lethality during organogenesis, abnormal DNA methylation, and abnormal heart, vascular, and limb development.	TET1,2,3 and TDG demethylate DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;TAS|GO:0006285;base-excision repair, AP site formation;IDA|GO:0006298;mismatch repair;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0035511;oxidative DNA demethylation;TAS|GO:0035562;negative regulation of chromatin binding;IEA|GO:0040029;regulation of gene expression, epigenetic;IEA|GO:0045008;depyrimidination;TAS|GO:0080111;DNA demethylation;IEA|GO:1902544;regulation of DNA N-glycosylase activity;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0016605;PML body;IEA	GO:0000287;magnesium ion binding;IDA|GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;TAS|GO:0003690;double-stranded DNA binding;IDA|GO:0004844;uracil DNA N-glycosylase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008134;transcription factor binding;IEA|GO:0008263;pyrimidine-specific mismatch base pair DNA N-glycosylase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0019104;DNA N-glycosylase activity;TAS|GO:0019904;protein domain specific binding;IEA|GO:0030983;mismatched DNA binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0031404;chloride ion binding;IDA|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA|GO:0043739;G/U mismatch-specific uracil-DNA glycosylase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/TDG	https://www.uniprot.org/uniprot/Q13569		https://www.ncbi.nlm.nih.gov/omim/?term=601423	http://www.informatics.jax.org/searchtool/Search.do?query=TDG&submit=Quick%0D%7881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDG	rs4135038	0.566693	0	0	1	0	0	UTR5	UTR5	UTR5	TDG(NM_003211:c.-169G>A)	TDG(uc010swh.1:c.-169G>A,uc001tkg.3:c.-169G>A,uc009zuk.3:c.-7154G>A,uc010swi.2:c.-15045G>A)	ENSG00000139372(ENST00000392872:c.-169G>A,ENST00000436021:c.-11101G>A,ENST00000544861:c.-15045G>A,ENST00000266775:c.-7154G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	247;5|9	Hom;G>A	115;0|4
N	N	-	12	104373600	104373600	G	A	snp	intronic	 	 	 	 	TDG	Tdg-ps	ENSG00000139372	thymine DNA glycosylase	chr12:104359582-104382652	The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]	lung cancer; Graft vs Host Disease; bladder cancer; DNA Damage|; Hematologic Neoplasms; Tobacco Use Disorder; multiple sclerosis; null; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit lethality during organogenesis, abnormal DNA methylation, and abnormal heart, vascular, and limb development.	TET1,2,3 and TDG demethylate DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;TAS|GO:0006285;base-excision repair, AP site formation;IDA|GO:0006298;mismatch repair;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0035511;oxidative DNA demethylation;TAS|GO:0035562;negative regulation of chromatin binding;IEA|GO:0040029;regulation of gene expression, epigenetic;IEA|GO:0045008;depyrimidination;TAS|GO:0080111;DNA demethylation;IEA|GO:1902544;regulation of DNA N-glycosylase activity;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0016605;PML body;IEA	GO:0000287;magnesium ion binding;IDA|GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;TAS|GO:0003690;double-stranded DNA binding;IDA|GO:0004844;uracil DNA N-glycosylase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008134;transcription factor binding;IEA|GO:0008263;pyrimidine-specific mismatch base pair DNA N-glycosylase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0019104;DNA N-glycosylase activity;TAS|GO:0019904;protein domain specific binding;IEA|GO:0030983;mismatched DNA binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0031404;chloride ion binding;IDA|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA|GO:0043739;G/U mismatch-specific uracil-DNA glycosylase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/TDG	https://www.uniprot.org/uniprot/Q13569		https://www.ncbi.nlm.nih.gov/omim/?term=601423	http://www.informatics.jax.org/searchtool/Search.do?query=TDG&submit=Quick%0D%7881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDG	rs3751209	0.337061	0.2516	0.2883	1	0	0	intronic	intronic	intronic	TDG	TDG	ENSG00000139372	Na	Na	Na	Na	Na	Na	Het;G>A	119;5|7	Hom;G>A	362;0|13
N	N	-	12	104378762	104378762	C	CAT	indel	intronic	 	 	 	 	TDG	Tdg-ps	ENSG00000139372	thymine DNA glycosylase	chr12:104359582-104382652	The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]	lung cancer; Graft vs Host Disease; bladder cancer; DNA Damage|; Hematologic Neoplasms; Tobacco Use Disorder; multiple sclerosis; null; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit lethality during organogenesis, abnormal DNA methylation, and abnormal heart, vascular, and limb development.	TET1,2,3 and TDG demethylate DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;TAS|GO:0006285;base-excision repair, AP site formation;IDA|GO:0006298;mismatch repair;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0035511;oxidative DNA demethylation;TAS|GO:0035562;negative regulation of chromatin binding;IEA|GO:0040029;regulation of gene expression, epigenetic;IEA|GO:0045008;depyrimidination;TAS|GO:0080111;DNA demethylation;IEA|GO:1902544;regulation of DNA N-glycosylase activity;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0016605;PML body;IEA	GO:0000287;magnesium ion binding;IDA|GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;TAS|GO:0003690;double-stranded DNA binding;IDA|GO:0004844;uracil DNA N-glycosylase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008134;transcription factor binding;IEA|GO:0008263;pyrimidine-specific mismatch base pair DNA N-glycosylase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0019104;DNA N-glycosylase activity;TAS|GO:0019904;protein domain specific binding;IEA|GO:0030983;mismatched DNA binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0031404;chloride ion binding;IDA|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA|GO:0043739;G/U mismatch-specific uracil-DNA glycosylase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/TDG	https://www.uniprot.org/uniprot/Q13569		https://www.ncbi.nlm.nih.gov/omim/?term=601423	http://www.informatics.jax.org/searchtool/Search.do?query=TDG&submit=Quick%0D%7881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDG	rs35589874	0	0	0	1	0	0	intronic	intronic	intronic	TDG	TDG	ENSG00000139372	Na	Na	Na	Na	Na	Na	Het;+AT	678;20|22	Hom;+AT	1551;0|41
N	N	-	12	104378826	104378826	C	T	snp	intronic	 	 	 	 	TDG	Tdg-ps	ENSG00000139372	thymine DNA glycosylase	chr12:104359582-104382652	The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]	lung cancer; Graft vs Host Disease; bladder cancer; DNA Damage|; Hematologic Neoplasms; Tobacco Use Disorder; multiple sclerosis; null; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit lethality during organogenesis, abnormal DNA methylation, and abnormal heart, vascular, and limb development.	TET1,2,3 and TDG demethylate DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;TAS|GO:0006285;base-excision repair, AP site formation;IDA|GO:0006298;mismatch repair;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0035511;oxidative DNA demethylation;TAS|GO:0035562;negative regulation of chromatin binding;IEA|GO:0040029;regulation of gene expression, epigenetic;IEA|GO:0045008;depyrimidination;TAS|GO:0080111;DNA demethylation;IEA|GO:1902544;regulation of DNA N-glycosylase activity;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0016605;PML body;IEA	GO:0000287;magnesium ion binding;IDA|GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;TAS|GO:0003690;double-stranded DNA binding;IDA|GO:0004844;uracil DNA N-glycosylase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008134;transcription factor binding;IEA|GO:0008263;pyrimidine-specific mismatch base pair DNA N-glycosylase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0019104;DNA N-glycosylase activity;TAS|GO:0019904;protein domain specific binding;IEA|GO:0030983;mismatched DNA binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0031404;chloride ion binding;IDA|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA|GO:0043739;G/U mismatch-specific uracil-DNA glycosylase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/TDG	https://www.uniprot.org/uniprot/Q13569		https://www.ncbi.nlm.nih.gov/omim/?term=601423	http://www.informatics.jax.org/searchtool/Search.do?query=TDG&submit=Quick%0D%7881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDG	rs4135122	0.342452	0	0	1	0	0	intronic	intronic	intronic	TDG	TDG	ENSG00000139372	Na	Na	Na	Na	Na	Na	Het;C>T	279;9|10	Hom;C>T	403;0|10
N	N	-	12	104391473	104391473	G	T	snp	intronic	 	 	 	 	GLT8D2	Glt8d2	ENSG00000120820	glycosyltransferase 8 domain containing 2	chr12:104382762-104457961		Magnesium; Tobacco Use Disorder	Homozygous mutant mice show reduced viability and a decreased serum immunoglobulin response to antigen.		GO:0000271;polysaccharide biosynthetic process;IBA	GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLT8D2	https://www.uniprot.org/uniprot/Q9H1C3			http://www.informatics.jax.org/searchtool/Search.do?query=GLT8D2&submit=Quick%0D%5254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT8D2	rs4964435	0.242013	0	0	1	0	0	intronic	intronic	intronic	GLT8D2	GLT8D2	ENSG00000120820	Na	Na	Na	Na	Na	Na	Het;G>T	81;2|4	Hom;G>T	192;0|6
N	N	-	12	104659321	104659321	A	G	snp	ncRNA_exonic	 	 	 	 	RPL18AP3																		rs4569071	0.684105	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TXNRD1	TXNRD1	ENSG00000213442	Na	Na	Na	Na	Na	Na	Het;A>G	63;6|4	Hom;A>G	125;0|5
N	N	-	12	105440863	105440863	C	T	snp	intronic	 	 	 	 	ALDH1L2	Aldh1l2	ENSG00000136010	aldehyde dehydrogenase 1 family member L2	chr12:105413568-105478355	This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]	Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	 	Metabolism of folate and pterines	GO:0006730;one-carbon metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0009258;10-formyltetrahydrofolate catabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;EXP|GO:0016155;formyltetrahydrofolate dehydrogenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016742;hydroxymethyl-, formyl- and related transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1L2	https://www.uniprot.org/uniprot/Q3SY69		https://www.ncbi.nlm.nih.gov/omim/?term=613584	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1L2&submit=Quick%0D%7268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1L2	rs10778364	0.696885	0	0	1	0	0	intronic	intronic	intronic	ALDH1L2	ALDH1L2	ENSG00000136010	Na	Na	Na	Na	Na	Na	Het;C>T	88;5|4	Hom;C>T	287;0|9
N	N	-	12	10560957	10560957	T	C	snp	nonsynonymous SNV	A311G	N104S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KLRC4		ENSG00000183542	killer cell lectin like receptor C4	chr12:10559983-10562356	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]	DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Hepatitis B, Chronic; cancer; ulcerative colitis; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Abortion, Spontaneous	Enhanced osteoclastic activity in the bone of homozygous null mice leads to osteopenia and high serum calcium levels.		GO:0006968;cellular defense response;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KLRC4		https://hpo.jax.org/app/browse/search?q=KLRC4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602893	http://www.informatics.jax.org/searchtool/Search.do?query=KLRC4&submit=Quick%0D%15007ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC4	rs2617170	0.556709	0.6105	0.6306	0.23	3	13	exonic	exonic	exonic	KLRC4	KLRC4	ENSG00000183542,ENSG00000255819	nonsynonymous SNV	nonsynonymous SNV	unknown	KLRC4:NM_013431:exon3:c.A311G:p.N104S,	KLRC4:uc001qye.3:exon3:c.A311G:p.N104S,	UNKNOWN	Het;T>C	476;31|26	Hom;T>C	1557;0|60
N	N	-	12	10562025	10562025	C	T	snp	synonymous SNV	G150A	S50S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KLRC4		ENSG00000183542	killer cell lectin like receptor C4	chr12:10559983-10562356	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]	DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Hepatitis B, Chronic; cancer; ulcerative colitis; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Abortion, Spontaneous	Enhanced osteoclastic activity in the bone of homozygous null mice leads to osteopenia and high serum calcium levels.		GO:0006968;cellular defense response;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KLRC4		https://hpo.jax.org/app/browse/search?q=KLRC4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602893	http://www.informatics.jax.org/searchtool/Search.do?query=KLRC4&submit=Quick%0D%15007ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC4	rs1841957	0.49401	0.5463	0.6107	1	0	0	exonic	exonic	exonic	KLRC4	KLRC4	ENSG00000183542,ENSG00000255819	synonymous SNV	synonymous SNV	unknown	KLRC4:NM_013431:exon1:c.G150A:p.S50S,	KLRC4:uc001qye.3:exon1:c.G150A:p.S50S,	UNKNOWN	Het;C>T	1827;83|85	Hom;C>T	4470;0|167
N	N	-	12	10562089	10562089	A	C	snp	nonsynonymous SNV	T86G	I29S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	KLRC4		ENSG00000183542	killer cell lectin like receptor C4	chr12:10559983-10562356	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]	DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Hepatitis B, Chronic; cancer; ulcerative colitis; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Abortion, Spontaneous	Enhanced osteoclastic activity in the bone of homozygous null mice leads to osteopenia and high serum calcium levels.		GO:0006968;cellular defense response;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KLRC4		https://hpo.jax.org/app/browse/search?q=KLRC4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602893	http://www.informatics.jax.org/searchtool/Search.do?query=KLRC4&submit=Quick%0D%15007ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC4	rs1841958	0.737021	0.6728	0.7188	0.08	1	13	exonic	exonic	exonic	KLRC4	KLRC4	ENSG00000183542,ENSG00000255819	nonsynonymous SNV	nonsynonymous SNV	unknown	KLRC4:NM_013431:exon1:c.T86G:p.I29S,	KLRC4:uc001qye.3:exon1:c.T86G:p.I29S,	UNKNOWN	Het;A>C	1766;59|84	Hom;A>C	3948;0|148
N	N	-	12	10573094	10573094	C	G	snp	nonsynonymous SNV	G56C	W19S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	KLRC3		ENSG00000205810	killer cell lectin like receptor C3	chr12:10564911-10573194	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]				GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLRC3			https://www.ncbi.nlm.nih.gov/omim/?term=602892	http://www.informatics.jax.org/searchtool/Search.do?query=KLRC3&submit=Quick%0D%17566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC3	rs2682491	0.44349	0	0.5398	0.15	2	13	exonic	exonic	exonic	KLRC3	KLRC3	ENSG00000205810	nonsynonymous SNV	nonsynonymous SNV	unknown	KLRC3:NM_007333:exon1:c.G56C:p.W19S,KLRC3:NM_002261:exon1:c.G56C:p.W19S,	KLRC3:uc001qyi.1:exon1:c.G56C:p.W19S,KLRC3:uc001qyf.3:exon1:c.G56C:p.W19S,KLRC3:uc021qvc.1:exon1:c.G56C:p.W19S,KLRC3:uc021qvd.1:exon1:c.G56C:p.W19S,	UNKNOWN	Het;C>G	1076;59|51	Hom;C>G	2371;3|88
N	N	-	12	10583611	10583611	C	T	snp	UTR3	*105G>A	 	 	 	KLRC2		ENSG00000205809	killer cell lectin like receptor C2	chr12:10579453-10594899	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]	lupus erythematosus; rheumatoid arthritis; rheumatic diseases; Tobacco Use Disorder; Behcet Syndrome; systemic lupus erythematosus; rheumatoid arthritis; Arthritis, Rheumatoid|		DAP12 signaling	GO:0002228;natural killer cell mediated immunity;IDA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0023024;MHC class I protein complex binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:1990405;protein antigen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KLRC2			https://www.ncbi.nlm.nih.gov/omim/?term=602891	http://www.informatics.jax.org/searchtool/Search.do?query=KLRC2&submit=Quick%0D%17565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC2	rs3003	0.61222	0	0	1	0	0	UTR3	UTR3	UTR3	KLRC2(NM_002260:c.*105G>A)	KLRC2(uc001qyk.2:c.*105G>A)	ENSG00000205809(ENST00000381902:c.*105G>A,ENST00000381901:c.*105G>A,ENST00000536833:c.*105G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	279;4|11	Hom;C>T	442;0|13
N	N	-	12	10587111	10587111	A	G	snp	nonsynonymous SNV	T305C	F102S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	KLRC2		ENSG00000205809	killer cell lectin like receptor C2	chr12:10579453-10594899	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]	lupus erythematosus; rheumatoid arthritis; rheumatic diseases; Tobacco Use Disorder; Behcet Syndrome; systemic lupus erythematosus; rheumatoid arthritis; Arthritis, Rheumatoid|		DAP12 signaling	GO:0002228;natural killer cell mediated immunity;IDA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0023024;MHC class I protein complex binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:1990405;protein antigen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KLRC2			https://www.ncbi.nlm.nih.gov/omim/?term=602891	http://www.informatics.jax.org/searchtool/Search.do?query=KLRC2&submit=Quick%0D%17565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC2	rs1141715	0	0	0.8180	0.08	1	12	exonic	exonic	exonic	KLRC2	KLRC2,KLRC3	ENSG00000205809,ENSG00000255641	nonsynonymous SNV	nonsynonymous SNV	unknown	KLRC2:NM_002260:exon3:c.T305C:p.F102S,	KLRC2:uc001qyk.2:exon3:c.T305C:p.F102S,KLRC2:uc010she.1:exon3:c.T305C:p.F102S,KLRC3:uc001qyh.3:exon3:c.T305C:p.F102S,	UNKNOWN	Het;A>G	2391;15|101	Hom;A>G	3554;0|130
N	N	-	12	10602077	10602077	C	T	snp	intronic	 	 	 	 	KLRC1	Klrc1	ENSG00000134545	killer cell lectin like receptor C1	chr12:10594863-10607284	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]	rheumatoid arthritis; Abortion, Spontaneous; systemic lupus erythematosus; lupus erythematosus; rheumatic diseases; Behcet Syndrome; Arthritis, Rheumatoid|; Hepatitis B, Chronic; Tobacco Use Disorder; lupus erythematosus; rheumatoid arthritis	Mice homozygous for a knock-out allele exhibit increased susceptibility to viral infection.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0007166;cell surface receptor signaling pathway;TAS|GO:0050776;regulation of immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0023024;MHC class I protein complex binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLRC1	https://www.uniprot.org/uniprot/P26715		https://www.ncbi.nlm.nih.gov/omim/?term=161555	http://www.informatics.jax.org/searchtool/Search.do?query=KLRC1&submit=Quick%0D%6997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC1	rs2734440	0.49401	0	0	1	0	0	intronic	intronic	intronic	KLRC1	KLRC1	ENSG00000134545	Na	Na	Na	Na	Na	Na	Het;C>T	99;2|4	Hom;C>T	193;0|7
N	N	-	12	106672815	106672815	C	T	snp	intronic	 	 	 	 	CKAP4	Ckap4	ENSG00000136026	cytoskeleton associated protein 4	chr12:106631655-106698057			 	Post-translational protein phosphorylation	GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0016607;nuclear speck;IDA|GO:0031012;extracellular matrix;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0042599;lamellar body;TAS|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CKAP4	https://www.uniprot.org/uniprot/Q07065			http://www.informatics.jax.org/searchtool/Search.do?query=CKAP4&submit=Quick%0D%7272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP4	rs7311121	0.260184	0	0	1	0	0	intergenic	intergenic	intronic	CKAP4(dist=31102),TCP11L2(dist=23754)	CKAP4(dist=31102),TCP11L2(dist=23766)	ENSG00000136026	Na	Na	Na	Na	Na	Na	Het;C>T	686;46|21	Hom;C>T	1697;0|43
N	N	-	12	106672834	106672834	C	T	snp	intronic	 	 	 	 	CKAP4	Ckap4	ENSG00000136026	cytoskeleton associated protein 4	chr12:106631655-106698057			 	Post-translational protein phosphorylation	GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0016607;nuclear speck;IDA|GO:0031012;extracellular matrix;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0042599;lamellar body;TAS|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CKAP4	https://www.uniprot.org/uniprot/Q07065			http://www.informatics.jax.org/searchtool/Search.do?query=CKAP4&submit=Quick%0D%7272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP4	rs7311133	0.30012	0	0	1	0	0	intergenic	intergenic	intronic	CKAP4(dist=31121),TCP11L2(dist=23735)	CKAP4(dist=31121),TCP11L2(dist=23747)	ENSG00000136026	Na	Na	Na	Na	Na	Na	Het;C>T	646;39|19	Hom;C>T	1383;0|31
N	N	-	12	10781986	10781986	A	G	snp	intronic	 	 	 	 	STYK1	Styk1	ENSG00000060140	serine/threonine/tyrosine kinase 1	chr12:10771538-10826917	Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]	Lipoproteins, VLDL; Lipoprotein(a); Eosinophils; Lymphoproliferative Disorders|Myelodysplastic Syndromes; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Echocardiography	 		GO:0006468;protein phosphorylation;IEA|GO:0006935;chemotaxis;IBA|GO:0007155;cell adhesion;IBA|GO:0007173;epidermal growth factor receptor signaling pathway;IBA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0043304;regulation of mast cell degranulation;IBA|GO:0045087;innate immune response;IBA	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STYK1	https://www.uniprot.org/uniprot/Q6J9G0		https://www.ncbi.nlm.nih.gov/omim/?term=611433	http://www.informatics.jax.org/searchtool/Search.do?query=STYK1&submit=Quick%0D%1057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STYK1	rs2168747	0.598642	0	0	1	0	0	intronic	intronic	intronic	STYK1	STYK1	ENSG00000060140	Na	Na	Na	Na	Na	Na	Het;A>G	129;1|5	Hom;A>G	181;0|5
N	N	-	12	109511144	109511144	T	C	snp	intronic	 	 	 	 	USP30	Usp30	ENSG00000135093	ubiquitin specific peptidase 30	chr12:109460894-109525831	USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]		 	Ub-specific processing proteases	GO:0000422;mitophagy;IDA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0008053;mitochondrial fusion;ISS|GO:0016579;protein deubiquitination;IEA|GO:0035871;protein K11-linked deubiquitination;IDA|GO:0044313;protein K6-linked deubiquitination;IDA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP30	https://www.uniprot.org/uniprot/Q70CQ3		https://www.ncbi.nlm.nih.gov/omim/?term=612492	http://www.informatics.jax.org/searchtool/Search.do?query=USP30&submit=Quick%0D%7084ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP30	rs7967182	0.923323	0	0	1	0	0	intronic	intronic	intronic	USP30	USP30	ENSG00000135093	Na	Na	Na	Na	Na	Na	Het;T>C	227;3|7	Hom;T>C	180;0|5
N	N	-	12	109511256	109511256	T	C	snp	synonymous SNV	T639C	P213P	hydrophobic,neutral	hydrophobic,neutral	USP30	Usp30	ENSG00000135093	ubiquitin specific peptidase 30	chr12:109460894-109525831	USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]		 	Ub-specific processing proteases	GO:0000422;mitophagy;IDA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0008053;mitochondrial fusion;ISS|GO:0016579;protein deubiquitination;IEA|GO:0035871;protein K11-linked deubiquitination;IDA|GO:0044313;protein K6-linked deubiquitination;IDA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP30	https://www.uniprot.org/uniprot/Q70CQ3		https://www.ncbi.nlm.nih.gov/omim/?term=612492	http://www.informatics.jax.org/searchtool/Search.do?query=USP30&submit=Quick%0D%7084ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP30	rs7967322	0.857029	0.7903	0.8377	1	0	0	exonic	exonic	exonic	USP30	USP30	ENSG00000135093	synonymous SNV	synonymous SNV	unknown	USP30:NM_032663:exon7:c.T639C:p.P213P,USP30:NM_001301175:exon10:c.T546C:p.P182P,	USP30:uc010sxi.2:exon7:c.T639C:p.P213P,USP30:uc001tnu.4:exon10:c.T546C:p.P182P,	UNKNOWN	Het;T>C	627;41|31	Hom;T>C	1456;0|56
N	N	-	12	10962115	10962115	A	G	snp	nonsynonymous SNV	T560C	V187A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TAS2R9		ENSG00000273713	taste 2 receptor member 9	chr12:10961693-10962767	This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]			Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008150;biological_process;ND|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008527;taste receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TAS2R9	https://www.uniprot.org/uniprot/Q9NYW1		https://www.ncbi.nlm.nih.gov/omim/?term=604795	http://www.informatics.jax.org/searchtool/Search.do?query=TAS2R9&submit=Quick%0D%20975ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS2R9	rs3741845	0.53095	0.4933	0.5964	0.08	1	13	exonic	exonic	exonic	TAS2R9	TAS2R9	ENSG00000121381	nonsynonymous SNV	nonsynonymous SNV	unknown	TAS2R9:NM_023917:exon1:c.T560C:p.V187A,	TAS2R9:uc001qyx.3:exon1:c.T560C:p.V187A,	UNKNOWN	Het;A>G	1680;84|71	Hom;A>G	3267;0|113
N	N	-	12	1100637	1100637	G	C	snp	UTR5	-36433G>C	 	 	 	ERC1	Erc1	ENSG00000283017	ELKS/RAB6-interacting/CAST family member 1	chr12:1099675-1605099	The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference	Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ERC1	https://www.uniprot.org/uniprot/Q8IUD2		https://www.ncbi.nlm.nih.gov/omim/?term=607127	http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1	rs10774481	0.440895	0	0	1	0	0	intronic	intronic	UTR5	ERC1	ERC1	ENSG00000082805(ENST00000542302:c.-36433G>C,ENST00000546231:c.-36433G>C,ENST00000397203:c.-36433G>C,ENST00000347735:c.-36433G>C,ENST00000592048:c.-36886G>C,ENST00000440394:c.-36433G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	82;4|5	Hom;G>C	297;0|11
N	N	-	12	110221631	110221631	G	C	snp	intronic	 	 	 	 	TRPV4	Trpv4	ENSG00000111199	transient receptor potential cation channel subfamily V member 4	chr12:110220890-110271212	This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]	Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma	Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits.	TRP channels	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA	GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRPV4	https://www.uniprot.org/uniprot/Q9HBA0	https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605427	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4	rs10774894	0.561901	0.4761	0.5389	1	0	0	intronic	intronic	intronic	TRPV4	TRPV4	ENSG00000111199	Na	Na	Na	Na	Na	Na	Het;G>C	916;90|47	Hom;G>C	3590;0|129
N	N	-	12	112106143	112106143	T	A	snp	intronic	 	 	 	 	BRAP	Brap	ENSG00000089234	BRCA1 associated protein	chr12:112079950-112123790	The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]	Atherosclerosis|Myocardial Infarction; Esophageal cancer; Alanine Transaminase	Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis and subtle defects in cell cycle-dependent nuclear movement in neural progenitors.	Paradoxical activation of RAF signaling by kinase inactive BRAF	GO:0000165;MAPK cascade;TAS|GO:0007265;Ras protein signal transduction;IDA|GO:0009968;negative regulation of signal transduction;IDA|GO:0016567;protein ubiquitination;IDA	GO:0000151;ubiquitin ligase complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031965;nuclear membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/BRAP	https://www.uniprot.org/uniprot/Q7Z569		https://www.ncbi.nlm.nih.gov/omim/?term=604986	http://www.informatics.jax.org/searchtool/Search.do?query=BRAP&submit=Quick%0D%2057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRAP	rs6490268	0	0	0	1	0	0	intronic	intronic	intronic	BRAP	BRAP	ENSG00000089234	Na	Na	Na	Na	Na	Na	Het;T>A	77;2|6	Hom;T>A	429;0|16
N	N	-	12	113826607	113826607	C	T	snp	UTR3	*176C>T	 	 	 	PLBD2	Plbd2	ENSG00000151176	phospholipase B domain containing 2	chr12:113796371-113827203			 		GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005764;lysosome;IEA|GO:0043202;lysosomal lumen;IEA|GO:0070062;extracellular exosome;IDA	GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLBD2	https://www.uniprot.org/uniprot/Q8NHP8			http://www.informatics.jax.org/searchtool/Search.do?query=PLBD2&submit=Quick%0D%9389ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLBD2	rs73194893	0.00319489	0	0	1	0	0	UTR3	UTR3	UTR3	PLBD2(NM_173542:c.*176C>T,NM_001159727:c.*176C>T)	PLBD2(uc001tve.2:c.*176C>T,uc001tvf.2:c.*176C>T)	ENSG00000151176(ENST00000545182:c.*176C>T,ENST00000280800:c.*176C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	77;2|4	Hom;C>T	171;0|6
N	N	-	12	113834860	113834860	A	G	snp	UTR3	*106T>C	 	 	 	SDS	Sds	ENSG00000135094	serine dehydratase	chr12:113830250-113864106	This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]	Diabetes Mellitus, Type 2|Diabetic Retinopathy	Sds is the serine dehydratase structural gene. Albino region deletions profoundly affect development and expression of some gluconeogenic enzymes, including Sds. In these deletion mice, Sds is expressed normally on the constitutive level, but fails to develop hormone-inducible expression.		GO:0006094;gluconeogenesis;IEA|GO:0006520;cellular amino acid metabolic process;IEA|GO:0006565;L-serine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0003941;L-serine ammonia-lyase activity;IDA|GO:0004794;L-threonine ammonia-lyase activity;IEA|GO:0016829;lyase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SDS	https://www.uniprot.org/uniprot/P20132		https://www.ncbi.nlm.nih.gov/omim/?term=182128	http://www.informatics.jax.org/searchtool/Search.do?query=SDS&submit=Quick%0D%7085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDS	rs73194894	0.00359425	0	0	1	0	0	intronic	UTR3	intronic	SDS	SDS(uc001tvh.1:c.*106T>C)	ENSG00000135094	Na	Na	Na	Na	Na	Na	Het;A>G	123;5|5	Hom;A>G	150;0|5
N	N	-	12	114261286	114261286	T	G	snp	intronic	 	 	 	 	RBM19	Rbm19	ENSG00000122965	RNA binding motif protein 19	chr12:114254543-114404176	This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]	Tobacco Use Disorder; Celiac Disease|; Body Weight; Insulin	Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5.		GO:0007275;multicellular organism development;IEA|GO:0040019;positive regulation of embryonic development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RBM19	https://www.uniprot.org/uniprot/Q9Y4C8		https://www.ncbi.nlm.nih.gov/omim/?term=616444	http://www.informatics.jax.org/searchtool/Search.do?query=RBM19&submit=Quick%0D%5472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM19	rs930004	0.934305	0	0	1	0	0	intronic	intronic	intronic	RBM19	RBM19	ENSG00000122965	Na	Na	Na	Na	Na	Na	Het;T>G	41;2|2	Hom;T>G	88;0|3
N	N	-	12	114377885	114377885	G	C	snp	synonymous SNV	C1818G	T606T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RBM19	Rbm19	ENSG00000122965	RNA binding motif protein 19	chr12:114254543-114404176	This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]	Tobacco Use Disorder; Celiac Disease|; Body Weight; Insulin	Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5.		GO:0007275;multicellular organism development;IEA|GO:0040019;positive regulation of embryonic development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RBM19	https://www.uniprot.org/uniprot/Q9Y4C8		https://www.ncbi.nlm.nih.gov/omim/?term=616444	http://www.informatics.jax.org/searchtool/Search.do?query=RBM19&submit=Quick%0D%5472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM19	rs2290790	0.219449	0.2533	0.2861	1	0	0	exonic	exonic	exonic	RBM19	RBM19	ENSG00000122965	synonymous SNV	synonymous SNV	unknown	RBM19:NM_001146698:exon15:c.C1818G:p.T606T,RBM19:NM_016196:exon15:c.C1818G:p.T606T,RBM19:NM_001146699:exon15:c.C1818G:p.T606T,	RBM19:uc009zwi.2:exon15:c.C1818G:p.T606T,RBM19:uc001tvn.4:exon15:c.C1818G:p.T606T,RBM19:uc001tvm.3:exon15:c.C1818G:p.T606T,	UNKNOWN	Het;G>C	1019;40|49	Hom;G>C	1666;2|61
N	N	-	12	114395571	114395571	C	T	snp	intronic	 	 	 	 	RBM19	Rbm19	ENSG00000122965	RNA binding motif protein 19	chr12:114254543-114404176	This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]	Tobacco Use Disorder; Celiac Disease|; Body Weight; Insulin	Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5.		GO:0007275;multicellular organism development;IEA|GO:0040019;positive regulation of embryonic development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RBM19	https://www.uniprot.org/uniprot/Q9Y4C8		https://www.ncbi.nlm.nih.gov/omim/?term=616444	http://www.informatics.jax.org/searchtool/Search.do?query=RBM19&submit=Quick%0D%5472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM19	rs2290786	0.240415	0.2806	0.2889	1	0	0	intronic	intronic	intronic	RBM19	RBM19	ENSG00000122965	Na	Na	Na	Na	Na	Na	Het;C>T	552;39|27	Hom;C>T	1865;2|70
N	N	-	12	114503054	114503054	C	G	snp	intergenic	 	 	 	 	RBM19	Rbm19	ENSG00000122965	RNA binding motif protein 19	chr12:114254543-114404176	This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]	Tobacco Use Disorder; Celiac Disease|; Body Weight; Insulin	Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5.		GO:0007275;multicellular organism development;IEA|GO:0040019;positive regulation of embryonic development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RBM19	https://www.uniprot.org/uniprot/Q9Y4C8		https://www.ncbi.nlm.nih.gov/omim/?term=616444	http://www.informatics.jax.org/searchtool/Search.do?query=RBM19&submit=Quick%0D%5472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM19	rs73210947	0.189696	0	0	1	0	0	intergenic	intergenic	intergenic	RBM19(dist=98878),TBX5(dist=288681)	RBM19(dist=98878),TBX5(dist=288681)	ENSG00000122965(dist=98878),ENSG00000257603(dist=11884)	Na	Na	Na	Na	Na	Na	Het;C>G	117;18|7	Hom;C>G	299;0|12
N	N	-	12	117013730	117013730	G	C	snp	UTR5	-18G>C	 	 	 	MAP1LC3B2	Map1lc3b	ENSG00000258102	microtubule associated protein 1 light chain 3 beta 2	chr12:116997186-117014425		Acute lymphoblastic leukemia (childhood); Leukemia, Lymphoid; Waist Circumference; Waist-Hip Ratio	Mice homozygous for a knock-out allele develop, breed and behave normally and display a normal life span. In culture, mutant MEFs maintain wild-type levels of fibronectin (FN) protein despite reduced FN synthesis, and show normal induction of autophagosomes under starvation conditions.		GO:0006914;autophagy;IEA	GO:0000421;autophagosome membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MAP1LC3B2				http://www.informatics.jax.org/searchtool/Search.do?query=MAP1LC3B2&submit=Quick%0D%20261ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1LC3B2	rs7303998	0.521765	0.6630	0.6077	1	0	0	UTR5	UTR5	UTR5	MAP1LC3B2(NM_001085481:c.-18G>C)	MAP1LC3B2(uc009zwk.1:c.-18G>C)	ENSG00000171471(ENST00000306985:c.-18G>C,ENST00000556529:c.-18G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	634;23|31	Hom;G>C	1351;0|45
N	N	-	12	117579274	117579274	T	C	snp	ncRNA_exonic	 	 	 	 	TESC-AS1																		rs884282	0.421725	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	TESC-AS1	TESC(dist=42023),FBXO21(dist=2311)	ENSG00000258285	Na	Na	Na	Na	Na	Na	Het;T>C	786;43|41	Hom;T>C	2408;0|65
N	N	-	12	117579288	117579290	TGA	T	indel	ncRNA_exonic	 	 	 	 	TESC-AS1																		rs5801214	0.228834	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	TESC-AS1	TESC(dist=42037),FBXO21(dist=2295)	ENSG00000258285	Na	Na	Na	Na	Na	Na	Het;-GA	1197;38|33	Hom;-GA	1981;0|44
N	N	-	12	117595930	117595930	G	A	snp	intronic	 	 	 	 	FBXO21	Fbxo21	ENSG00000135108	F-box protein 21	chr12:117581146-117628336	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXO21	https://www.uniprot.org/uniprot/O94952		https://www.ncbi.nlm.nih.gov/omim/?term=609095	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21	rs2279765	0.222244	0.1627	0.2377	1	0	0	intronic	intronic	intronic	FBXO21	FBXO21	ENSG00000135108	Na	Na	Na	Na	Na	Na	Het;G>A	322;23|18	Hom;G>A	766;0|26
N	N	-	12	117611859	117611859	C	T	snp	intronic	 	 	 	 	FBXO21	Fbxo21	ENSG00000135108	F-box protein 21	chr12:117581146-117628336	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXO21	https://www.uniprot.org/uniprot/O94952		https://www.ncbi.nlm.nih.gov/omim/?term=609095	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21	rs12296271	0.244409	0	0	1	0	0	intronic	intronic	intronic	FBXO21	FBXO21	ENSG00000135108	Na	Na	Na	Na	Na	Na	Het;C>T	46;2|2	Hom;C>T	292;0|9
N	N	-	12	117611898	117611898	C	T	snp	intronic	 	 	 	 	FBXO21	Fbxo21	ENSG00000135108	F-box protein 21	chr12:117581146-117628336	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXO21	https://www.uniprot.org/uniprot/O94952		https://www.ncbi.nlm.nih.gov/omim/?term=609095	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21	rs904656	0.244209	0	0	1	0	0	intronic	intronic	intronic	FBXO21	FBXO21	ENSG00000135108	Na	Na	Na	Na	Na	Na	Het;C>T	97;2|4	Hom;C>T	568;0|19
N	N	-	12	117611934	117611934	C	T	snp	intronic	 	 	 	 	FBXO21	Fbxo21	ENSG00000135108	F-box protein 21	chr12:117581146-117628336	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXO21	https://www.uniprot.org/uniprot/O94952		https://www.ncbi.nlm.nih.gov/omim/?term=609095	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21	rs57632063	0.241613	0	0	1	0	0	intronic	intronic	intronic	FBXO21	FBXO21	ENSG00000135108	Na	Na	Na	Na	Na	Na	Het;C>T	274;19|12	Hom;C>T	1330;0|47
N	N	-	12	117612357	117612357	T	C	snp	intronic	 	 	 	 	FBXO21	Fbxo21	ENSG00000135108	F-box protein 21	chr12:117581146-117628336	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXO21	https://www.uniprot.org/uniprot/O94952		https://www.ncbi.nlm.nih.gov/omim/?term=609095	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21	rs3817015	0.243011	0	0	1	0	0	intronic	intronic	intronic	FBXO21	FBXO21	ENSG00000135108	Na	Na	Na	Na	Na	Na	Het;T>C	451;13|19	Hom;T>C	719;0|22
N	N	-	12	117612734	117612734	T	C	snp	intronic	 	 	 	 	FBXO21	Fbxo21	ENSG00000135108	F-box protein 21	chr12:117581146-117628336	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXO21	https://www.uniprot.org/uniprot/O94952		https://www.ncbi.nlm.nih.gov/omim/?term=609095	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21	rs4767513	0.596645	0	0	1	0	0	intronic	intronic	intronic	FBXO21	FBXO21	ENSG00000135108	Na	Na	Na	Na	Na	Na	Het;T>C	236;10|7	Hom;T>C	467;0|11
N	N	-	12	117612735	117612735	G	A	snp	intronic	 	 	 	 	FBXO21	Fbxo21	ENSG00000135108	F-box protein 21	chr12:117581146-117628336	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXO21	https://www.uniprot.org/uniprot/O94952		https://www.ncbi.nlm.nih.gov/omim/?term=609095	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21	rs73206063	0.239217	0	0	1	0	0	intronic	intronic	intronic	FBXO21	FBXO21	ENSG00000135108	Na	Na	Na	Na	Na	Na	Het;G>A	236;10|7	Hom;G>A	467;0|11
N	N	-	12	117701714	117701714	A	G	snp	synonymous SNV	T1194C	I398I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NOS1	Nos1	ENSG00000089250	nitric oxide synthase 1	chr12:117645947-117889975	The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]	asthma IgE; oxidative stress ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; melanoma; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; ulcerative colitis; slow transit constipation; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; enuresis, primary nocturnal; Brain Neoplasms|Occupational Diseases; Meningeal Neoplasms|meningioma; asthma; cognitive trait; EO; multiple sclerosis; Marijuana Abuse|Psychoses, Substance-Induced; Coronary Disease|Coronary heart disease; atopy; mood disorders; nitric oxide, exhaled; neuronal NO synthase (NOS1) gene polymorphism; NO exhalation; impulsiveness, venturesomeness and empathy; smoking behavior; Asthma. DRS. eosinophilia; Alzheimer's disease; Multiple Sclerosis; Restless Legs Syndrome; infantile hypertrophic pyloric stenosis.; Bipolar Disorder; Tobacco Use Disorder; Asthma. total IgE. SPT; schizophrenia; acute chest syndrome asthma; Autism; nitric oxide; Parkinson's disease; Schizophrenia; HIV; schizophrenia; bipolar disorder; cystic fibrosis; tIgE; Alcoholism; diabetic neuropathy; hypertension; suicide; Pyloric Stenosis, Hypertrophic; depressive disorder, major; tardive dyskinesia; Asthma; null; several psychiatric disorders; achalasia; Alzheimer's Disease; major depression; Lymphoma, Non-Hodgkin; migraine; migraine with aura; sickle cell disease; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Spinal Dysraphism; Nephrosis, Lipoid; diabetes, type 2; breast cancer ; Malaria; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; Asthma. DRS. total IgE; Parkinson's Disease; schizophrenia; schizoaffective disorder; bipolar disorder; Parkinson's disease ; beta-Thalassemia; cluster headache; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Aging/ Telomere Length	Homozygous hypomorphic mice exhibit enlarged stomachs, abnormal pyloric and lower esophageal sphincters, age-related cardiac hypertrophy, altered alcohol consumption and responses, decreased ovulation and reduced REM sleep. Homozygous null mice display increased neurogenesis in the adult brain.	Ion homeostasis	GO:0001666;response to hypoxia;IEP|GO:0002028;regulation of sodium ion transport;ISS|GO:0006527;arginine catabolic process;IC|GO:0006809;nitric oxide biosynthetic process;ISS|GO:0006941;striated muscle contraction;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0007520;myoblast fusion;TAS|GO:0009408;response to heat;IDA|GO:0010523;negative regulation of calcium ion transport into cytosol;TAS|GO:0018119;peptidyl-cysteine S-nitrosylation;ISS|GO:0031284;positive regulation of guanylate cyclase activity;IBA|GO:0033555;multicellular organismal response to stress;IMP|GO:0035066;positive regulation of histone acetylation;ISS|GO:0042136;neurotransmitter biosynthetic process;TAS|GO:0042311;vasodilation;IDA|GO:0042738;exogenous drug catabolic process;ISS|GO:0043267;negative regulation of potassium ion transport;ISS|GO:0045454;cell redox homeostasis;TAS|GO:0045776;negative regulation of blood pressure;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050767;regulation of neurogenesis;IEA|GO:0051346;negative regulation of hydrolase activity;ISS|GO:0051612;negative regulation of serotonin uptake;ISS|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0055117;regulation of cardiac muscle contraction;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0071363;cellular response to growth factor stimulus;ISS|GO:0098735;positive regulation of the force of heart contraction;ISS|GO:0098924;retrograde trans-synaptic signaling by nitric oxide;IEA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;TAS|GO:1901206;positive regulation of adrenergic receptor signaling pathway involved in heart process;IEA|GO:1902307;positive regulation of sodium ion transmembrane transport;ISS|GO:1902514;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;TAS|GO:1903779;regulation of cardiac conduction;TAS|GO:0001666;response to hypoxia;IEP|GO:0002028;regulation of sodium ion transport;ISS|GO:0006527;arginine catabolic process;IC|GO:0006809;nitric oxide biosynthetic process;ISS|GO:0006941;striated muscle contraction;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0007520;myoblast fusion;TAS|GO:0009408;response to heat;IDA|GO:0010523;negative regulation of calcium ion transport into cytosol;TAS|GO:0018119;peptidyl-cysteine S-nitrosylation;ISS|GO:0031284;positive regulation of guanylate cyclase activity;IBA|GO:0033555;multicellular organismal response to stress;IMP|GO:0035066;positive regulation of histone acetylation;ISS|GO:0042136;neurotransmitter biosynthetic process;TAS|GO:0042311;vasodilation;IDA|GO:0042738;exogenous drug catabolic process;ISS|GO:0043267;negative regulation of potassium ion transport;ISS|GO:0045454;cell redox homeostasis;TAS|GO:0045776;negative regulation of blood pressure;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050767;regulation of neurogenesis;IEA|GO:0051346;negative regulation of hydrolase activity;ISS|GO:0051612;negative regulation of serotonin uptake;ISS|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0055117;regulation of cardiac muscle contraction;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0071363;cellular response to growth factor stimulus;ISS|GO:0098735;positive regulation of the force of heart contraction;ISS|GO:0098924;retrograde trans-synaptic signaling by nitric oxide;IEA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;TAS|GO:1901206;positive regulation of adrenergic receptor signaling pathway involved in heart process;IEA|GO:1902307;positive regulation of sodium ion transmembrane transport;ISS|GO:1902514;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;TAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0001917;photoreceptor inner segment;ISS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;ISS|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IEA|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030018;Z disc;IEA|GO:0030315;T-tubule;IEA|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043234;protein complex;ISS|GO:0045121;membrane raft;ISS|GO:0045202;synapse;ISS|GO:0048471;perinuclear region of cytoplasm;ISS|GO:1990425;ryanodine receptor complex;TAS	GO:0003958;NADPH-hemoprotein reductase activity;IBA|GO:0004517;nitric-oxide synthase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0010181;FMN binding;ISS|GO:0016491;oxidoreductase activity;IEA|GO:0017080;sodium channel regulator activity;ISS|GO:0020037;heme binding;ISS|GO:0034617;tetrahydrobiopterin binding;NAS|GO:0034618;arginine binding;TAS|GO:0044325;ion channel binding;ISS|GO:0046870;cadmium ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;ISS|GO:0050661;NADP binding;ISS|GO:0097110;scaffold protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NOS1	https://www.uniprot.org/uniprot/P29475	https://hpo.jax.org/app/browse/search?q=NOS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=163731	http://www.informatics.jax.org/searchtool/Search.do?query=NOS1&submit=Quick%0D%86ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOS1	rs2293054	0.748802	0.7705	0.7060	1	0	0	exonic	exonic	exonic	NOS1	NOS1	ENSG00000089250	synonymous SNV	synonymous SNV	unknown	NOS1:NM_001204218:exon13:c.T2202C:p.I734I,NOS1:NM_001204213:exon12:c.T1194C:p.I398I,NOS1:NM_001204214:exon12:c.T1194C:p.I398I,NOS1:NM_000620:exon13:c.T2202C:p.I734I,	NOS1:uc021reo.1:exon12:c.T1194C:p.I398I,NOS1:uc021ren.1:exon12:c.T1194C:p.I398I,NOS1:uc001twn.2:exon13:c.T2202C:p.I734I,NOS1:uc001twm.2:exon13:c.T2202C:p.I734I,	UNKNOWN	Het;A>G	1057;61|53	Hom;A>G	2358;0|92
N	N	-	12	117718473	117718473	G	GGGTAAAA	indel	intronic	 	 	 	 	NOS1	Nos1	ENSG00000089250	nitric oxide synthase 1	chr12:117645947-117889975	The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]	asthma IgE; oxidative stress ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; melanoma; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; ulcerative colitis; slow transit constipation; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; enuresis, primary nocturnal; Brain Neoplasms|Occupational Diseases; Meningeal Neoplasms|meningioma; asthma; cognitive trait; EO; multiple sclerosis; Marijuana Abuse|Psychoses, Substance-Induced; Coronary Disease|Coronary heart disease; atopy; mood disorders; nitric oxide, exhaled; neuronal NO synthase (NOS1) gene polymorphism; NO exhalation; impulsiveness, venturesomeness and empathy; smoking behavior; Asthma. DRS. eosinophilia; Alzheimer's disease; Multiple Sclerosis; Restless Legs Syndrome; infantile hypertrophic pyloric stenosis.; Bipolar Disorder; Tobacco Use Disorder; Asthma. total IgE. SPT; schizophrenia; acute chest syndrome asthma; Autism; nitric oxide; Parkinson's disease; Schizophrenia; HIV; schizophrenia; bipolar disorder; cystic fibrosis; tIgE; Alcoholism; diabetic neuropathy; hypertension; suicide; Pyloric Stenosis, Hypertrophic; depressive disorder, major; tardive dyskinesia; Asthma; null; several psychiatric disorders; achalasia; Alzheimer's Disease; major depression; Lymphoma, Non-Hodgkin; migraine; migraine with aura; sickle cell disease; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Spinal Dysraphism; Nephrosis, Lipoid; diabetes, type 2; breast cancer ; Malaria; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; Asthma. DRS. total IgE; Parkinson's Disease; schizophrenia; schizoaffective disorder; bipolar disorder; Parkinson's disease ; beta-Thalassemia; cluster headache; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Aging/ Telomere Length	Homozygous hypomorphic mice exhibit enlarged stomachs, abnormal pyloric and lower esophageal sphincters, age-related cardiac hypertrophy, altered alcohol consumption and responses, decreased ovulation and reduced REM sleep. Homozygous null mice display increased neurogenesis in the adult brain.	Ion homeostasis	GO:0001666;response to hypoxia;IEP|GO:0002028;regulation of sodium ion transport;ISS|GO:0006527;arginine catabolic process;IC|GO:0006809;nitric oxide biosynthetic process;ISS|GO:0006941;striated muscle contraction;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0007520;myoblast fusion;TAS|GO:0009408;response to heat;IDA|GO:0010523;negative regulation of calcium ion transport into cytosol;TAS|GO:0018119;peptidyl-cysteine S-nitrosylation;ISS|GO:0031284;positive regulation of guanylate cyclase activity;IBA|GO:0033555;multicellular organismal response to stress;IMP|GO:0035066;positive regulation of histone acetylation;ISS|GO:0042136;neurotransmitter biosynthetic process;TAS|GO:0042311;vasodilation;IDA|GO:0042738;exogenous drug catabolic process;ISS|GO:0043267;negative regulation of potassium ion transport;ISS|GO:0045454;cell redox homeostasis;TAS|GO:0045776;negative regulation of blood pressure;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050767;regulation of neurogenesis;IEA|GO:0051346;negative regulation of hydrolase activity;ISS|GO:0051612;negative regulation of serotonin uptake;ISS|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0055117;regulation of cardiac muscle contraction;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0071363;cellular response to growth factor stimulus;ISS|GO:0098735;positive regulation of the force of heart contraction;ISS|GO:0098924;retrograde trans-synaptic signaling by nitric oxide;IEA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;TAS|GO:1901206;positive regulation of adrenergic receptor signaling pathway involved in heart process;IEA|GO:1902307;positive regulation of sodium ion transmembrane transport;ISS|GO:1902514;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;TAS|GO:1903779;regulation of cardiac conduction;TAS|GO:0001666;response to hypoxia;IEP|GO:0002028;regulation of sodium ion transport;ISS|GO:0006527;arginine catabolic process;IC|GO:0006809;nitric oxide biosynthetic process;ISS|GO:0006941;striated muscle contraction;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0007520;myoblast fusion;TAS|GO:0009408;response to heat;IDA|GO:0010523;negative regulation of calcium ion transport into cytosol;TAS|GO:0018119;peptidyl-cysteine S-nitrosylation;ISS|GO:0031284;positive regulation of guanylate cyclase activity;IBA|GO:0033555;multicellular organismal response to stress;IMP|GO:0035066;positive regulation of histone acetylation;ISS|GO:0042136;neurotransmitter biosynthetic process;TAS|GO:0042311;vasodilation;IDA|GO:0042738;exogenous drug catabolic process;ISS|GO:0043267;negative regulation of potassium ion transport;ISS|GO:0045454;cell redox homeostasis;TAS|GO:0045776;negative regulation of blood pressure;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050767;regulation of neurogenesis;IEA|GO:0051346;negative regulation of hydrolase activity;ISS|GO:0051612;negative regulation of serotonin uptake;ISS|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0055117;regulation of cardiac muscle contraction;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0071363;cellular response to growth factor stimulus;ISS|GO:0098735;positive regulation of the force of heart contraction;ISS|GO:0098924;retrograde trans-synaptic signaling by nitric oxide;IEA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;TAS|GO:1901206;positive regulation of adrenergic receptor signaling pathway involved in heart process;IEA|GO:1902307;positive regulation of sodium ion transmembrane transport;ISS|GO:1902514;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;TAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0001917;photoreceptor inner segment;ISS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;ISS|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IEA|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030018;Z disc;IEA|GO:0030315;T-tubule;IEA|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043234;protein complex;ISS|GO:0045121;membrane raft;ISS|GO:0045202;synapse;ISS|GO:0048471;perinuclear region of cytoplasm;ISS|GO:1990425;ryanodine receptor complex;TAS	GO:0003958;NADPH-hemoprotein reductase activity;IBA|GO:0004517;nitric-oxide synthase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0010181;FMN binding;ISS|GO:0016491;oxidoreductase activity;IEA|GO:0017080;sodium channel regulator activity;ISS|GO:0020037;heme binding;ISS|GO:0034617;tetrahydrobiopterin binding;NAS|GO:0034618;arginine binding;TAS|GO:0044325;ion channel binding;ISS|GO:0046870;cadmium ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;ISS|GO:0050661;NADP binding;ISS|GO:0097110;scaffold protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NOS1	https://www.uniprot.org/uniprot/P29475	https://hpo.jax.org/app/browse/search?q=NOS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=163731	http://www.informatics.jax.org/searchtool/Search.do?query=NOS1&submit=Quick%0D%86ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOS1	rs11282297	0	0	0	1	0	0	intronic	intronic	intronic	NOS1	NOS1	ENSG00000089250	Na	Na	Na	Na	Na	Na	Het;+GGTAAAA	886;21|22	Hom;+GGTAAAA	2122;0|43
N	N	-	12	120998443	120998443	A	G	snp	intronic	 	 	 	 	RNF10	Rnf10	ENSG00000022840	ring finger protein 10	chr12:120971283-121015397	The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010626;negative regulation of Schwann cell proliferation;ISS|GO:0031643;positive regulation of myelination;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0051865;protein autoubiquitination;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA	GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF10	https://www.uniprot.org/uniprot/Q8N5U6		https://www.ncbi.nlm.nih.gov/omim/?term=615998	http://www.informatics.jax.org/searchtool/Search.do?query=RNF10&submit=Quick%0D%675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF10	rs603574	0.269569	0	0	1	0	0	intronic	intronic	intronic	RNF10	RNF10	ENSG00000022840	Na	Na	Na	Na	Na	Na	Het;A>G	113;2|4	Hom;A>G	137;0|4
N	N	-	12	122492978	122492978	T	C	snp	intronic	 	 	 	 	BCL7A	Bcl7a	ENSG00000282873	BCL tumor suppressor 7A	chr12:122457328-122499948	This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; benzene haematotoxicity; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse	Mice homozygous for null alleles display preweaning lethality.		GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BCL7A	https://www.uniprot.org/uniprot/Q4VC05		https://www.ncbi.nlm.nih.gov/omim/?term=601406	http://www.informatics.jax.org/searchtool/Search.do?query=BCL7A&submit=Quick%0D%22638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL7A	rs2280574	0.402157	0	0	1	0	0	intronic	intronic	intronic	BCL7A	BCL7A	ENSG00000110987	Na	Na	Na	Na	Na	Na	Het;T>C	331;2|14	Hom;T>C	369;2|15
N	N	-	12	122974833	122974833	G	C	snp	intronic	 	 	 	 	ZCCHC8	Zcchc8	ENSG00000033030	zinc finger CCHC-type containing 8	chr12:122957417-122985518		Autosomal Recessive Mental Retardation	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IEA|GO:0016604;nuclear body;IDA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC8	https://www.uniprot.org/uniprot/Q6NZY4		https://www.ncbi.nlm.nih.gov/omim/?term=616381	http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC8&submit=Quick%0D%751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC8	rs7311573	0.578275	0	0	1	0	0	intronic	intronic	intronic	ZCCHC8	ZCCHC8	ENSG00000033030	Na	Na	Na	Na	Na	Na	Het;G>C	155;1|5	Hom;G>C	132;0|4
N	N	-	12	123075015	123075015	G	GT	indel	intronic	 	 	 	 	KNTC1	Kntc1	ENSG00000184445	kinetochore associated 1	chr12:123011793-123110943	This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]	Narcolepsy; Tobacco Use Disorder; Adiponectin	Mice have a kinked tail.	Mitotic Prometaphase	GO:0006461;protein complex assembly;NAS|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007096;regulation of exit from mitosis;NAS|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:1990423;RZZ complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KNTC1			https://www.ncbi.nlm.nih.gov/omim/?term=607363	http://www.informatics.jax.org/searchtool/Search.do?query=KNTC1&submit=Quick%0D%15208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KNTC1	rs560531595	0	0	0	1	0	0	intronic	intronic	intronic	KNTC1	KNTC1	ENSG00000184445	Na	Na	Na	Na	Na	Na	Het;+T	33;2|3	Hom;+T	77;0|4
N	N	-	12	123200099	123200099	T	C	snp	ncRNA_exonic	 	 	 	 	AC026333.3																		rs579194	0.464457	0.5493	0.5156	1	0	0	UTR3	UTR3	ncRNA_exonic	HCAR3(NM_006018:c.*22A>G)	HCAR3(uc001ucy.4:c.*22A>G)	ENSG00000256249	Na	Na	Na	Na	Na	Na	Het;T>C	262;15|10	Hom;T>C	558;0|20
N	N	-	12	123200693	123200693	A	G	snp	nonsynonymous SNV	T592C	F198L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HCAR3		ENSG00000255398	hydroxycarboxylic acid receptor 3	chr12:123199303-123201439		Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder	Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid.	G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HCAR3			https://www.ncbi.nlm.nih.gov/omim/?term=606039	http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3	rs17884481	0.463858	0	0.5062	0.27	3	11	exonic	exonic	exonic	HCAR3	HCAR3	ENSG00000255398	nonsynonymous SNV	nonsynonymous SNV	unknown	HCAR3:NM_006018:exon1:c.T592C:p.F198L,	HCAR3:uc001ucy.4:exon1:c.T592C:p.F198L,	UNKNOWN	Het;A>G	1631;94|74	Hom;A>G	3179;3|115
N	N	-	12	123200768	123200768	T	G	snp	nonsynonymous SNV	A517C	T173P	polar,hydrophilic,neutral	hydrophobic,neutral	HCAR3		ENSG00000255398	hydroxycarboxylic acid receptor 3	chr12:123199303-123201439		Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder	Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid.	G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HCAR3			https://www.ncbi.nlm.nih.gov/omim/?term=606039	http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3	rs1798192	0.464058	0.5499	0.5063	0.09	1	11	exonic	exonic	exonic	HCAR3	HCAR3	ENSG00000255398	nonsynonymous SNV	nonsynonymous SNV	unknown	HCAR3:NM_006018:exon1:c.A517C:p.T173P,	HCAR3:uc001ucy.4:exon1:c.A517C:p.T173P,	UNKNOWN	Het;T>G	2047;106|79	Hom;T>G	3773;3|123
N	N	-	12	123200937	123200937	T	G	snp	synonymous SNV	A348C	I116I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HCAR3		ENSG00000255398	hydroxycarboxylic acid receptor 3	chr12:123199303-123201439		Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder	Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid.	G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HCAR3			https://www.ncbi.nlm.nih.gov/omim/?term=606039	http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3	rs1696352	0.463658	0.5507	0.5065	1	0	0	exonic	exonic	exonic	HCAR3	HCAR3	ENSG00000255398	synonymous SNV	synonymous SNV	unknown	HCAR3:NM_006018:exon1:c.A348C:p.I116I,	HCAR3:uc001ucy.4:exon1:c.A348C:p.I116I,	UNKNOWN	Het;T>G	2974;99|126	Hom;T>G	5460;2|196
N	N	-	12	123201291	123201291	A	G	snp	UTR5	-7T>C	 	 	 	HCAR3		ENSG00000255398	hydroxycarboxylic acid receptor 3	chr12:123199303-123201439		Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder	Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid.	G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HCAR3			https://www.ncbi.nlm.nih.gov/omim/?term=606039	http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3	rs3825156	0.211861	0.2585	0.2912	1	0	0	UTR5	UTR5	UTR5	HCAR3(NM_006018:c.-7T>C)	HCAR3(uc001ucy.4:c.-7T>C)	ENSG00000255398(ENST00000528880:c.-7T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1161;68|55	Hom;A>G	2388;0|82
N	N	-	12	124008073	124008073	A	G	snp	synonymous SNV	T429C	N143N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RILPL1	Rilpl1	ENSG00000188026	Rab interacting lysosomal protein like 1	chr12:123955925-124018265		Blood Pressure	 		GO:0003382;epithelial cell morphogenesis;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0060271;cilium assembly;IBA|GO:1901214;regulation of neuron death;IEA|GO:1903445;protein transport from ciliary membrane to plasma membrane;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IBA|GO:0042995;cell projection;IEA	GO:0031267;small GTPase binding;IBA|GO:0046983;protein dimerization activity;IEA|GO:0051959;dynein light intermediate chain binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RILPL1			https://www.ncbi.nlm.nih.gov/omim/?term=614092	http://www.informatics.jax.org/searchtool/Search.do?query=RILPL1&submit=Quick%0D%15949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RILPL1	rs2292500	0.817692	0.7902	0.8481	1	0	0	exonic	exonic	exonic	RILPL1	RILPL1	ENSG00000188026	synonymous SNV	synonymous SNV	unknown	RILPL1:NM_178314:exon2:c.T429C:p.N143N,	RILPL1:uc001ufe.2:exon2:c.T429C:p.N143N,RILPL1:uc010tas.1:exon2:c.T429C:p.N143N,	UNKNOWN	Het;A>G	968;41|43	Hom;A>G	2258;0|81
N	N	-	12	124090605	124090607	ACT	A	indel	intronic	 	 	 	 	DDX55	Ddx55	ENSG00000111364	DEAD-box helicase 55	chr12:124086624-124105488	This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0010501;RNA secondary structure unwinding;IBA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX55	https://www.uniprot.org/uniprot/Q8NHQ9			http://www.informatics.jax.org/searchtool/Search.do?query=DDX55&submit=Quick%0D%4072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX55	rs398056034	0.868011	0.8240	0.8881	1	0	0	intronic	intronic	intronic	DDX55	DDX55	ENSG00000111364	Na	Na	Na	Na	Na	Na	Het;-CT	1913;58|54	Hom;-CT	4449;0|106
N	N	-	12	124090814	124090814	G	A	snp	intronic	 	 	 	 	DDX55	Ddx55	ENSG00000111364	DEAD-box helicase 55	chr12:124086624-124105488	This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0010501;RNA secondary structure unwinding;IBA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX55	https://www.uniprot.org/uniprot/Q8NHQ9			http://www.informatics.jax.org/searchtool/Search.do?query=DDX55&submit=Quick%0D%4072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX55	rs786437	0.868211	0	0	1	0	0	intronic	intronic	intronic	DDX55	DDX55	ENSG00000111364	Na	Na	Na	Na	Na	Na	Het;G>A	85;4|3	Hom;G>A	287;0|8
N	N	-	12	124274758	124274758	C	CT	indel	intronic	 	 	 	 	DNAH10	Dnah10	ENSG00000281935	dynein axonemal heavy chain 10	chr12:124247042-124420753	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]	lipid levels; Waist Circumference	 		GO:0007018;microtubule-based movement;IEA	GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030286;dynein complex;IEA	GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH10			https://www.ncbi.nlm.nih.gov/omim/?term=605884	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH10&submit=Quick%0D%22356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH10	rs35056478	0.665136	0	0	1	0	0	intronic	intronic	intronic	DNAH10	DNAH10	ENSG00000197653	Na	Na	Na	Na	Na	Na	Het;+T	57;1|4	Hom;+T	129;0|6
N	N	-	12	124325977	124325977	T	G	snp	nonsynonymous SNV	T4891G	L1631V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DNAH10	Dnah10	ENSG00000281935	dynein axonemal heavy chain 10	chr12:124247042-124420753	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]	lipid levels; Waist Circumference	 		GO:0007018;microtubule-based movement;IEA	GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030286;dynein complex;IEA	GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH10			https://www.ncbi.nlm.nih.gov/omim/?term=605884	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH10&submit=Quick%0D%22356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH10	rs4930729	0.786142	0.9172	0.8344	0.15	2	13	exonic	exonic	exonic	DNAH10	DNAH10	ENSG00000197653	nonsynonymous SNV	nonsynonymous SNV	unknown	DNAH10:NM_207437:exon29:c.T4891G:p.L1631V,	DNAH10:uc001uft.4:exon29:c.T4891G:p.L1631V,	UNKNOWN	Het;T>G	1095;92|60	Hom;T>G	3955;0|144
N	N	-	12	12508947	12508948	CT	C	indel	ncRNA_exonic	 	 	 	 	LOH12CR2																		rs34135892	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	LOH12CR2	LOH12CR2	ENSG00000205791(ENST00000381800:c.*770_*769delinsG)	Na	Na	Na	Na	Na	Na	Het;-T	390;12|31	Hom;-T	545;6|31
N	N	-	12	125253204	125253204	G	GCCA	indel	intergenic	 	 	 	 	NCOR2	Ncor2	ENSG00000196498	nuclear receptor corepressor 2	chr12:124808961-125052135	This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]	osteoarthritis; Neoplasms; Diabetic Nephropathies; hepatic CYP3A4 expression; Cholesterol, HDL; Socioeconomic Factors; thyroid cancer; Cognitive performance; Iron; Body Height; breast cancer ; HIV Infections|[X]Human immunodeficiency virus disease; bipolar disorder; plasma HDL cholesterol (HDL-C) levels; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects.	Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007595;lactation;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032355;response to estradiol;IEA|GO:0044849;estrous cycle;IEA|GO:0072365;regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP	GO:0000118;histone deacetylase complex;IBA|GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0001012;RNA polymerase II regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NCOR2			https://www.ncbi.nlm.nih.gov/omim/?term=600848	http://www.informatics.jax.org/searchtool/Search.do?query=NCOR2&submit=Quick%0D%16382ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR2	rs35101471	0.541534	0	0	1	0	0	intergenic	intergenic	intergenic	NCOR2(dist=201194),SCARB1(dist=8970)	NCOR2(dist=201194),SCARB1(dist=8970)	ENSG00000196498(dist=201194),ENSG00000073060(dist=8198)	Na	Na	Na	Na	Na	Na	Het;+CCA	167;2|5	Hom;+CCA	364;0|9
N	N	-	12	125509502	125509502	C	T	snp	intronic	 	 	 	 	BRI3BP	Bri3bp	ENSG00000184992	BRI3 binding protein	chr12:125478246-125515777			 			GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BRI3BP			https://www.ncbi.nlm.nih.gov/omim/?term=615627	http://www.informatics.jax.org/searchtool/Search.do?query=BRI3BP&submit=Quick%0D%15313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRI3BP	rs7303493	0.466054	0.4668	0.4167	1	0	0	intronic	intronic	intronic	BRI3BP	BRI3BP	ENSG00000184992	Na	Na	Na	Na	Na	Na	Het;C>T	587;16|26	Hom;C>T	1389;0|55
N	N	-	12	125510104	125510104	G	A	snp	ncRNA_exonic	 	 	 	 	THRIL																		rs1055472	0.506789	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	THRIL	BRI3BP(uc001uha.1:c.*128G>A)	ENSG00000184992(ENST00000341446:c.*128G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	2539;111|123	Hom;G>A	5249;1|193
N	N	-	12	127645052	127645052	T	C	snp	intergenic	 	 	 	 	AC079949.1																		rs73228316	0.130391	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927592(dist=100110),LOC101927616(dist=163648)	BC032874(dist=100110),FLJ37505(dist=721110)	ENSG00000256001(dist=13975),ENSG00000239776(dist=5564)	Na	Na	Na	Na	Na	Na	Het;T>C	93;3|6	Hom;T>C	206;0|9
N	N	-	12	127818611	127818611	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927616																		rs7315293	0.560304	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927616	BC032874(dist=273669),FLJ37505(dist=547551)	ENSG00000256362	Na	Na	Na	Na	Na	Na	Het;C>T	921;38|47	Hom;C>T	1340;0|53
N	N	-	12	127824409	127824409	G	A	snp	ncRNA_intronic	 	 	 	 	LOC101927616																		rs10847330	0.722045	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927616	BC032874(dist=279467),FLJ37505(dist=541753)	ENSG00000256362	Na	Na	Na	Na	Na	Na	Het;G>A	42;12|4	Hom;G>A	505;0|16
N	N	-	12	127824511	127824511	C	T	snp	ncRNA_intronic	 	 	 	 	LOC101927616																		rs10773389	0.652157	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927616	BC032874(dist=279569),FLJ37505(dist=541651)	ENSG00000256362	Na	Na	Na	Na	Na	Na	Het;C>T	622;82|38	Hom;C>T	2804;0|103
N	N	-	12	127972809	127972809	T	C	snp	intergenic	 	 	 	 	AC073913.2																		rs12227373	0.226238	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927616(dist=148192),LOC101927637(dist=143005)	BC032874(dist=427867),FLJ37505(dist=393353)	ENSG00000256502(dist=143862),ENSG00000255945(dist=109904)	Na	Na	Na	Na	Na	Na	Het;T>C	140;2|8	Hom;T>C	156;0|7
N	N	-	12	127974002	127974002	G	C	snp	intergenic	 	 	 	 	AC073913.2																		rs12307120	0.225639	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927616(dist=149385),LOC101927637(dist=141812)	BC032874(dist=429060),FLJ37505(dist=392160)	ENSG00000256502(dist=145055),ENSG00000255945(dist=108711)	Na	Na	Na	Na	Na	Na	Het;G>C	350;21|11	Hom;G>C	827;0|19
N	N	-	12	127974017	127974017	T	C	snp	intergenic	 	 	 	 	AC073913.2																		rs12302480	0.225639	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927616(dist=149400),LOC101927637(dist=141797)	BC032874(dist=429075),FLJ37505(dist=392145)	ENSG00000256502(dist=145070),ENSG00000255945(dist=108696)	Na	Na	Na	Na	Na	Na	Het;T>C	332;20|10	Hom;T>C	962;0|22
N	N	-	12	127974025	127974025	G	A	snp	intergenic	 	 	 	 	AC073913.2																		rs12307125	0.225639	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927616(dist=149408),LOC101927637(dist=141789)	BC032874(dist=429083),FLJ37505(dist=392137)	ENSG00000256502(dist=145078),ENSG00000255945(dist=108688)	Na	Na	Na	Na	Na	Na	Het;G>A	164;20|6	Hom;G>A	917;0|21
N	N	-	12	127974055	127974055	A	G	snp	intergenic	 	 	 	 	AC073913.2																		rs12301127	0.225639	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927616(dist=149438),LOC101927637(dist=141759)	BC032874(dist=429113),FLJ37505(dist=392107)	ENSG00000256502(dist=145108),ENSG00000255945(dist=108658)	Na	Na	Na	Na	Na	Na	Het;A>G	161;6|4	Hom;A>G	647;0|14
N	N	-	12	128418692	128418692	G	C	snp	ncRNA_intronic	 	 	 	 	LINC00507																		rs1386849	0.507987	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00507,LINC00508	LINC00507	ENSG00000256193	Na	Na	Na	Na	Na	Na	Het;G>C	79;1|3	Hom;G>C	171;0|5
N	N	-	12	128900005	128900005	G	A	snp	nonsynonymous SNV	G814A	V272I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM132C	Tmem132c	ENSG00000181234	transmembrane protein 132C	chr12:128751948-129192460		Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C	rs1683723	0.510383	0.4137	0.5689	0.25	3	12	exonic	exonic	exonic	TMEM132C	TMEM132C	ENSG00000181234	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM132C:NM_001136103:exon2:c.G814A:p.V272I,	TMEM132C:uc021rgn.1:exon2:c.G814A:p.V272I,	UNKNOWN	Het;G>A	2462;123|113	Hom;G>A	4676;1|177
N	N	-	12	129028774	129028774	T	G	snp	intronic	 	 	 	 	TMEM132C	Tmem132c	ENSG00000181234	transmembrane protein 132C	chr12:128751948-129192460		Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C	rs35380911	0.375799	0	0	1	0	0	intronic	intronic	intronic	TMEM132C	TMEM132C	ENSG00000181234	Na	Na	Na	Na	Na	Na	Het;T>G	242;1|10	Hom;T>G	492;0|20
N	N	-	12	129500630	129500630	G	A	snp	ncRNA_exonic	 	 	 	 	NLRP9P1																		rs543533	0.640176	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	GLT1D1(dist=31121),TMEM132D(dist=55641)	GLT1D1(dist=31121),TMEM132D(dist=55641)	ENSG00000256581	Na	Na	Na	Na	Na	Na	Het;G>A	108;4|5	Hom;G>A	204;0|7
N	N	-	12	130520386	130520386	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100190940																		rs607701	0.391773	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100190940	LOC100190940	ENSG00000214039	Na	Na	Na	Na	Na	Na	Het;C>T	1390;74|63	Hom;C>T	2673;2|100
N	N	-	12	130520476	130520476	C	A	snp	ncRNA_exonic	 	 	 	 	LOC100190940																		rs615099	0.39357	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100190940	LOC100190940	ENSG00000214039	Na	Na	Na	Na	Na	Na	Het;C>A	394;48|21	Hom;C>A	922;4|35
N	N	-	12	130520563	130520563	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100190940																		rs618828	0.395168	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100190940	LOC100190940	ENSG00000214039	Na	Na	Na	Na	Na	Na	Het;G>A	319;23|14	Hom;G>A	771;1|27
N	N	-	12	130520629	130520629	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100190940																		rs614263	0.39377	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100190940	LOC100190940	ENSG00000214039	Na	Na	Na	Na	Na	Na	Het;A>G	625;31|26	Hom;A>G	1619;0|54
N	N	-	12	130520674	130520674	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100190940																		rs619302	0.39357	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100190940	LOC100190940	ENSG00000214039	Na	Na	Na	Na	Na	Na	Het;C>T	839;77|45	Hom;C>T	2522;0|92
N	N	-	12	130520717	130520717	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100190940																		rs619722	0.464457	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100190940	LOC100190940	ENSG00000214039	Na	Na	Na	Na	Na	Na	Het;C>T	1107;88|55	Hom;C>T	3285;0|114
N	N	-	12	130526726	130526726	A	G	snp	ncRNA_intronic	 	 	 	 	LOC100190940																		rs1696428	0.379992	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100190940	LOC100190940	ENSG00000214039,ENSG00000261650	Na	Na	Na	Na	Na	Na	Het;A>G	763;30|36	Hom;A>G	1068;0|38
N	N	-	12	13061294	13061294	C	T	snp	synonymous SNV	C111T	A37A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GPRC5A	Gprc5a	ENSG00000013588	G protein-coupled receptor class C group 5 member A	chr12:13043716-13070871	This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Neuroblastoma	Mice homozygous for one knock-out allele are healthy and exhibit normal lung development and a normal life span. Mice homozygous for a different knock-out allele show a significantly increased incidence of acidophilic macrophage pneumonia and spontaneouslung tumors at 1-2 years of age.		GO:0007165;signal transduction;TAS|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;ISS|GO:0007186;G-protein coupled receptor signaling pathway;IEA	GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GPRC5A	https://www.uniprot.org/uniprot/Q8NFJ5		https://www.ncbi.nlm.nih.gov/omim/?term=604138	http://www.informatics.jax.org/searchtool/Search.do?query=GPRC5A&submit=Quick%0D%601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPRC5A	rs2075288	0.361621	0.2098	0.3479	1	0	0	exonic	exonic	exonic	GPRC5A	GPRC5A	ENSG00000013588	synonymous SNV	synonymous SNV	unknown	GPRC5A:NM_003979:exon2:c.C111T:p.A37A,	GPRC5A:uc001rba.3:exon2:c.C111T:p.A37A,	UNKNOWN	Het;C>T	1719;87|82	Hom;C>T	3781;0|139
N	N	-	12	130636925	130636925	C	A	snp	ncRNA_exonic	 	 	 	 	FZD10-AS1																		rs937643	0.479633	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FZD10-AS1	FZD10-AS1	ENSG00000250208	Na	Na	Na	Na	Na	Na	Het;C>A	2181;91|98	Hom;C>A	3704;2|133
N	N	-	12	131280714	131280714	T	C	snp	intronic	 	 	 	 	STX2	Stx2	ENSG00000111450	syntaxin 2	chr12:131274145-131323811	The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele display male infertility associated with abnormal testicular development and impaired spermatogenesis, increased intestinal growth due to enhanced crypt cell proliferation and crypt fission, and decreased susceptibility to induced colitis.		GO:0006886;intracellular protein transport;IBA|GO:0007165;signal transduction;TAS|GO:0007340;acrosome reaction;ISS|GO:0007398;ectoderm development;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0030154;cell differentiation;IEA|GO:0030193;regulation of blood coagulation;IMP|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0033194;response to hydroperoxide;IDA|GO:0048278;vesicle docking;IBA|GO:0051259;protein oligomerization;IDA|GO:1903575;cornified envelope assembly;IDA	GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IDA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0031201;SNARE complex;IBA|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0070062;extracellular exosome;IDA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IDA|GO:0048306;calcium-dependent protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/STX2	https://www.uniprot.org/uniprot/P32856		https://www.ncbi.nlm.nih.gov/omim/?term=132350	http://www.informatics.jax.org/searchtool/Search.do?query=STX2&submit=Quick%0D%4080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX2	rs10848205	0.539936	0.4242	0.5713	1	0	0	intronic	intronic	intronic	STX2	STX2	ENSG00000111450	Na	Na	Na	Na	Na	Na	Het;T>C	383;16|18	Hom;T>C	1092;0|35
N	N	-	12	131306314	131306314	C	G	snp	nonsynonymous SNV	G125C	S42T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	STX2	Stx2	ENSG00000111450	syntaxin 2	chr12:131274145-131323811	The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele display male infertility associated with abnormal testicular development and impaired spermatogenesis, increased intestinal growth due to enhanced crypt cell proliferation and crypt fission, and decreased susceptibility to induced colitis.		GO:0006886;intracellular protein transport;IBA|GO:0007165;signal transduction;TAS|GO:0007340;acrosome reaction;ISS|GO:0007398;ectoderm development;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0030154;cell differentiation;IEA|GO:0030193;regulation of blood coagulation;IMP|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0033194;response to hydroperoxide;IDA|GO:0048278;vesicle docking;IBA|GO:0051259;protein oligomerization;IDA|GO:1903575;cornified envelope assembly;IDA	GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IDA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0031201;SNARE complex;IBA|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0070062;extracellular exosome;IDA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IDA|GO:0048306;calcium-dependent protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/STX2	https://www.uniprot.org/uniprot/P32856		https://www.ncbi.nlm.nih.gov/omim/?term=132350	http://www.informatics.jax.org/searchtool/Search.do?query=STX2&submit=Quick%0D%4080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX2	rs17564	0.604034	0.5281	0.6484	0.08	1	13	exonic	exonic	exonic	STX2	STX2	ENSG00000111450	nonsynonymous SNV	nonsynonymous SNV	unknown	STX2:NM_194356:exon3:c.G125C:p.S42T,STX2:NM_001980:exon3:c.G125C:p.S42T,	STX2:uc001uip.4:exon3:c.G125C:p.S42T,STX2:uc001uio.4:exon3:c.G125C:p.S42T,STX2:uc010tbj.3:exon3:c.G125C:p.S42T,	UNKNOWN	Het;C>G	1160;47|54	Hom;C>G	2997;0|104
N	N	-	12	131311629	131311629	G	A	snp	intronic	 	 	 	 	STX2	Stx2	ENSG00000111450	syntaxin 2	chr12:131274145-131323811	The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele display male infertility associated with abnormal testicular development and impaired spermatogenesis, increased intestinal growth due to enhanced crypt cell proliferation and crypt fission, and decreased susceptibility to induced colitis.		GO:0006886;intracellular protein transport;IBA|GO:0007165;signal transduction;TAS|GO:0007340;acrosome reaction;ISS|GO:0007398;ectoderm development;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0030154;cell differentiation;IEA|GO:0030193;regulation of blood coagulation;IMP|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0033194;response to hydroperoxide;IDA|GO:0048278;vesicle docking;IBA|GO:0051259;protein oligomerization;IDA|GO:1903575;cornified envelope assembly;IDA	GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IDA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0031201;SNARE complex;IBA|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0070062;extracellular exosome;IDA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IDA|GO:0048306;calcium-dependent protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/STX2	https://www.uniprot.org/uniprot/P32856		https://www.ncbi.nlm.nih.gov/omim/?term=132350	http://www.informatics.jax.org/searchtool/Search.do?query=STX2&submit=Quick%0D%4080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX2	rs112850087	0.604433	0	0	1	0	0	intronic	intronic	intronic	STX2	STX2	ENSG00000111450	Na	Na	Na	Na	Na	Na	Het;G>A	99;3|4	Hom;G>A	221;0|7
N	N	-	12	13132885	13132885	T	C	snp	ncRNA_intronic	 	 	 	 	LOC100506314																		rs2270390	0.480631	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100506314	LOC100506314	ENSG00000247498	Na	Na	Na	Na	Na	Na	Het;T>C	1202;25|47	Hom;T>C	1561;2|55
N	N	-	12	13133333	13133333	C	T	snp	ncRNA_exonic	 	 	 	 	AC007688.2																		rs704227	0.447883	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC100506314	LOC100506314	ENSG00000247498	Na	Na	Na	Na	Na	Na	Het;C>T	1042;52|48	Hom;C>T	1795;0|67
N	N	-	12	131359298	131359298	C	A	snp	intronic	 	 	 	 	RAN	Ran	ENSG00000132341	RAN, member RAS oncogene family	chr12:131356424-131362223	RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules.  RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008]	lung cancer; Calcium; oral premalignant lesions; Panic Disorder; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal Membranes, Premature Rupture|Premature Birth; Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; Carcinoma, Renal Cell|Kidney Neoplasms; esophageal cancer 	 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IMP|GO:0000056;ribosomal small subunit export from nucleus;IMP|GO:0000060;protein import into nucleus, translocation;IMP|GO:0000278;mitotic cell cycle;TAS|GO:0006259;DNA metabolic process;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IDA|GO:0006611;protein export from nucleus;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006913;nucleocytoplasmic transport;IEA|GO:0007049;cell cycle;IEA|GO:0007052;mitotic spindle organization;TAS|GO:0007165;signal transduction;IEA|GO:0010586;miRNA metabolic process;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0030521;androgen receptor signaling pathway;NAS|GO:0032092;positive regulation of protein binding;IDA|GO:0035281;pre-miRNA export from nucleus;IC|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051301;cell division;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1902570;protein localization to nucleolus;IMP	GO:0000785;chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IEA|GO:0005643;nuclear pore;NAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;IDA|GO:0042470;melanosome;IEA|GO:0042565;RNA nuclear export complex;IDA|GO:0043234;protein complex;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0003682;chromatin binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IMP|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0050681;androgen receptor binding;NAS|GO:0070883;pre-miRNA binding;IDA|GO:0090631;pre-miRNA transporter activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/RAN	https://www.uniprot.org/uniprot/P62826		https://www.ncbi.nlm.nih.gov/omim/?term=601179	http://www.informatics.jax.org/searchtool/Search.do?query=RAN&submit=Quick%0D%6655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAN	rs7958223	0.259984	0.3210	0.3009	1	0	0	intronic	intronic	intronic	RAN	RAN	ENSG00000132341	Na	Na	Na	Na	Na	Na	Het;C>A	161;16|10	Hom;C>A	684;0|27
N	N	-	12	131360360	131360360	G	T	snp	intronic	 	 	 	 	RAN	Ran	ENSG00000132341	RAN, member RAS oncogene family	chr12:131356424-131362223	RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules.  RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008]	lung cancer; Calcium; oral premalignant lesions; Panic Disorder; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal Membranes, Premature Rupture|Premature Birth; Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; Carcinoma, Renal Cell|Kidney Neoplasms; esophageal cancer 	 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IMP|GO:0000056;ribosomal small subunit export from nucleus;IMP|GO:0000060;protein import into nucleus, translocation;IMP|GO:0000278;mitotic cell cycle;TAS|GO:0006259;DNA metabolic process;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IDA|GO:0006611;protein export from nucleus;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006913;nucleocytoplasmic transport;IEA|GO:0007049;cell cycle;IEA|GO:0007052;mitotic spindle organization;TAS|GO:0007165;signal transduction;IEA|GO:0010586;miRNA metabolic process;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0030521;androgen receptor signaling pathway;NAS|GO:0032092;positive regulation of protein binding;IDA|GO:0035281;pre-miRNA export from nucleus;IC|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051301;cell division;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1902570;protein localization to nucleolus;IMP	GO:0000785;chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IEA|GO:0005643;nuclear pore;NAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;IDA|GO:0042470;melanosome;IEA|GO:0042565;RNA nuclear export complex;IDA|GO:0043234;protein complex;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0003682;chromatin binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IMP|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0050681;androgen receptor binding;NAS|GO:0070883;pre-miRNA binding;IDA|GO:0090631;pre-miRNA transporter activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/RAN	https://www.uniprot.org/uniprot/P62826		https://www.ncbi.nlm.nih.gov/omim/?term=601179	http://www.informatics.jax.org/searchtool/Search.do?query=RAN&submit=Quick%0D%6655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAN	rs73461299	0.270767	0.3324	0.3002	1	0	0	intronic	intronic	intronic	RAN	RAN	ENSG00000132341	Na	Na	Na	Na	Na	Na	Het;G>T	527;55|30	Hom;G>T	1788;0|68
N	N	-	12	1313732	1313732	T	C	snp	intronic	 	 	 	 	ERC1	Erc1	ENSG00000283017	ELKS/RAB6-interacting/CAST family member 1	chr12:1099675-1605099	The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference	Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ERC1	https://www.uniprot.org/uniprot/Q8IUD2		https://www.ncbi.nlm.nih.gov/omim/?term=607127	http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1	rs7977526	0.386581	0.4290	0	1	0	0	intronic	intronic	intronic	ERC1	ERC1	ENSG00000082805	Na	Na	Na	Na	Na	Na	Het;T>C	1199;71|60	Hom;T>C	3281;0|113
N	N	-	12	131694967	131694967	A	G	snp	ncRNA_intronic	 	 	 	 	LOC116437																		rs4366566	0.68131	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01257	LOC116437	ENSG00000204603	Na	Na	Na	Na	Na	Na	Het;A>G	702;46|20	Hom;A>G	2501;0|67
N	N	-	12	131879434	131879434	G	C	snp	intergenic	 	 	 	 	AC140118.1																		rs7397815	0.841054	0	0	1	0	0	intergenic	intergenic	intergenic	LOC338797(dist=27334),SFSWAP(dist=316198)	LOC338797(dist=27334),SFSWAP(dist=316198)	ENSG00000256484(dist=23830),ENSG00000256209(dist=74422)	Na	Na	Na	Na	Na	Na	Het;G>C	46;2|3	Hom;G>C	62;0|3
N	N	-	12	132209932	132209934	ATG	A	indel	intronic	 	 	 	 	SFSWAP	Sfswap	ENSG00000061936	splicing factor SWAP homolog	chr12:132195626-132284282	This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]	Heart Failure; Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit a wobbly phenotype with inner ear defects.		GO:0000380;alternative mRNA splicing, via spliceosome;IEA|GO:0000395;mRNA 5'-splice site recognition;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0048025;negative regulation of mRNA splicing, via spliceosome;ISS	GO:0005634;nucleus;IEA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SFSWAP	https://www.uniprot.org/uniprot/Q12872		https://www.ncbi.nlm.nih.gov/omim/?term=601945	http://www.informatics.jax.org/searchtool/Search.do?query=SFSWAP&submit=Quick%0D%1080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFSWAP	rs138640311	0.323283	0.3681	0.4050	1	0	0	intronic	intronic	intronic	SFSWAP	SFSWAP	ENSG00000061936	Na	Na	Na	Na	Na	Na	Het;-TG	681;31|21	Hom;-TG	1990;0|49
N	N	-	12	132269830	132269830	G	GA	indel	intronic	 	 	 	 	SFSWAP	Sfswap	ENSG00000061936	splicing factor SWAP homolog	chr12:132195626-132284282	This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]	Heart Failure; Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit a wobbly phenotype with inner ear defects.		GO:0000380;alternative mRNA splicing, via spliceosome;IEA|GO:0000395;mRNA 5'-splice site recognition;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0048025;negative regulation of mRNA splicing, via spliceosome;ISS	GO:0005634;nucleus;IEA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SFSWAP	https://www.uniprot.org/uniprot/Q12872		https://www.ncbi.nlm.nih.gov/omim/?term=601945	http://www.informatics.jax.org/searchtool/Search.do?query=SFSWAP&submit=Quick%0D%1080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFSWAP	rs397802851	0.766174	0	0	1	0	0	intronic	intronic	intronic	SFSWAP	SFSWAP	ENSG00000061936	Na	Na	Na	Na	Na	Na	Het;+A	235;18|12	Hom;+A	1043;0|36
N	N	-	12	132325239	132325239	G	A	snp	nonsynonymous SNV	G544A	A182T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MMP17	Mmp17	ENSG00000198598	matrix metallopeptidase 17	chr12:132312938-132336328	This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016]	Hepatitis C, Chronic|Liver Cirrhosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes	Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity.	Activation of Matrix Metalloproteinases	GO:0001822;kidney development;IEA|GO:0006508;proteolysis;TAS|GO:0042756;drinking behavior;IEA|GO:0043085;positive regulation of catalytic activity;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031225;anchored component of membrane;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MMP17			https://www.ncbi.nlm.nih.gov/omim/?term=602285	http://www.informatics.jax.org/searchtool/Search.do?query=MMP17&submit=Quick%0D%16938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP17	rs6598163	0.453674	0.4719	0.4745	0.08	1	13	exonic	exonic	exonic	MMP17	MMP17	ENSG00000198598	nonsynonymous SNV	nonsynonymous SNV	unknown	MMP17:NM_016155:exon4:c.G544A:p.A182T,	MMP17:uc001ujd.1:exon3:c.G292A:p.A98T,MMP17:uc001ujc.1:exon4:c.G544A:p.A182T,	UNKNOWN	Het;G>A	1964;70|93	Hom;G>A	5236;0|194
N	N	-	12	132682481	132682481	T	G	snp	synonymous SNV	A843C	G281G	aliphatic,neutral	aliphatic,neutral	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs12308155	0.766374	0.7898	0.7566	1	0	0	exonic	exonic	exonic	GALNT9	GALNT9	ENSG00000182870	synonymous SNV	synonymous SNV	unknown	GALNT9:NM_001122636:exon10:c.A1521C:p.G507G,GALNT9:NM_021808:exon6:c.A423C:p.G141G,	GALNT9:uc009zyr.3:exon7:c.A843C:p.G281G,GALNT9:uc001ukc.4:exon10:c.A1521C:p.G507G,GALNT9:uc001uka.3:exon6:c.A423C:p.G141G,GALNT9:uc001ukb.3:exon9:c.A1092C:p.G364G,	UNKNOWN	Het;T>G	2388;35|59	Hom;T>G	3533;0|82
N	N	-	12	132682484	132682484	A	G	snp	synonymous SNV	T840C	D280D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs12306514	0.766374	0.7896	0.7563	1	0	0	exonic	exonic	exonic	GALNT9	GALNT9	ENSG00000182870	synonymous SNV	synonymous SNV	unknown	GALNT9:NM_001122636:exon10:c.T1518C:p.D506D,GALNT9:NM_021808:exon6:c.T420C:p.D140D,	GALNT9:uc009zyr.3:exon7:c.T840C:p.D280D,GALNT9:uc001ukc.4:exon10:c.T1518C:p.D506D,GALNT9:uc001uka.3:exon6:c.T420C:p.D140D,GALNT9:uc001ukb.3:exon9:c.T1089C:p.D363D,	UNKNOWN	Het;A>G	2388;35|61	Hom;A>G	3509;0|78
N	N	-	12	132683632	132683632	A	C	snp	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs4074045	0.759585	0	0	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;A>C	391;4|13	Hom;A>C	584;0|17
N	N	-	12	132683862	132683862	G	A	snp	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs6598205	0.741813	0.7718	0.7226	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;G>A	438;17|20	Hom;G>A	1132;0|41
N	N	-	12	132685566	132685566	C	T	snp	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs7953158	0.51278	0	0	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;C>T	380;6|14	Hom;C>T	489;0|16
N	N	-	12	132685826	132685826	T	C	snp	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs11246988	0.551318	0.6092	0.5692	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;T>C	1235;55|56	Hom;T>C	3353;2|122
N	N	-	12	132685837	132685837	A	G	snp	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs10794457	0.791733	0.8291	0.8099	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;A>G	1020;51|48	Hom;A>G	2874;0|97
N	N	-	12	132685899	132685899	G	C	snp	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs11246989	0.553115	0	0	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;G>C	300;22|14	Hom;G>C	998;0|34
N	N	-	12	132685940	132685940	A	AGGCCCCATCC	indel	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs397948123	0	0	0	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;+GGCCCCATCC	107;8|4	Hom;+GGCCCCATCC	212;0|6
N	N	-	12	132685953	132685953	T	G	snp	intronic	 	 	 	 	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs59310537	0.552716	0	0	1	0	0	intronic	intronic	intronic	GALNT9	GALNT9	ENSG00000182870	Na	Na	Na	Na	Na	Na	Het;T>G	95;8|4	Hom;T>G	175;0|5
N	N	-	12	132688137	132688137	A	G	snp	synonymous SNV	T498C	Y166Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	GALNT9	Galnt9	ENSG00000182870	polypeptide N-acetylgalactosaminyltransferase 9	chr12:132680924-132905935	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT9			https://www.ncbi.nlm.nih.gov/omim/?term=606251	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9	rs7486927	0.569289	0.6214	0.5748	1	0	0	exonic	exonic	exonic	GALNT9	GALNT9	ENSG00000182870	synonymous SNV	synonymous SNV	unknown	GALNT9:NM_001122636:exon7:c.T1176C:p.Y392Y,GALNT9:NM_021808:exon3:c.T78C:p.Y26Y,	GALNT9:uc009zyr.3:exon4:c.T498C:p.Y166Y,GALNT9:uc001ukc.4:exon7:c.T1176C:p.Y392Y,GALNT9:uc001uka.3:exon3:c.T78C:p.Y26Y,GALNT9:uc001ukb.3:exon6:c.T747C:p.Y249Y,	UNKNOWN	Het;A>G	2249;102|109	Hom;A>G	5466;2|211
N	N	-	12	132957443	132957443	T	C	snp	intergenic	 	 	 	 	AC148477.1																		rs28644223	0.908946	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928416(dist=49282),FBRSL1(dist=109714)	GALNT9(dist=51538),FBRSL1(dist=109714)	ENSG00000255916(dist=49282),ENSG00000256783(dist=76303)	Na	Na	Na	Na	Na	Na	Het;T>C	114;5|4	Hom;T>C	300;0|8
N	N	-	12	132973818	132973818	G	A	snp	intergenic	 	 	 	 	AC148477.1																		rs34369540	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928416(dist=65657),FBRSL1(dist=93339)	GALNT9(dist=67913),FBRSL1(dist=93339)	ENSG00000255916(dist=65657),ENSG00000256783(dist=59928)	Na	Na	Na	Na	Na	Na	Het;G>A	179;1|5	Hom;G>A	377;0|9
N	N	-	12	132973823	132973823	C	T	snp	intergenic	 	 	 	 	AC148477.1																		rs34210011	0.319688	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928416(dist=65662),FBRSL1(dist=93334)	GALNT9(dist=67918),FBRSL1(dist=93334)	ENSG00000255916(dist=65662),ENSG00000256783(dist=59923)	Na	Na	Na	Na	Na	Na	Het;C>T	179;1|5	Hom;C>T	377;0|9
N	N	-	12	132973828	132973828	A	G	snp	intergenic	 	 	 	 	AC148477.1																		rs35587387	0.319688	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928416(dist=65667),FBRSL1(dist=93329)	GALNT9(dist=67923),FBRSL1(dist=93329)	ENSG00000255916(dist=65667),ENSG00000256783(dist=59918)	Na	Na	Na	Na	Na	Na	Het;A>G	179;1|5	Hom;A>G	287;0|7
N	N	-	12	132974027	132974027	A	G	snp	intergenic	 	 	 	 	AC148477.1																		rs55746719	0.298722	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928416(dist=65866),FBRSL1(dist=93130)	GALNT9(dist=68122),FBRSL1(dist=93130)	ENSG00000255916(dist=65866),ENSG00000256783(dist=59719)	Na	Na	Na	Na	Na	Na	Het;A>G	85;5|6	Hom;A>G	316;0|12
N	N	-	12	132974591	132974591	C	T	snp	intergenic	 	 	 	 	AC148477.1																		rs28680771	0.317891	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928416(dist=66430),FBRSL1(dist=92566)	GALNT9(dist=68686),FBRSL1(dist=92566)	ENSG00000255916(dist=66430),ENSG00000256783(dist=59155)	Na	Na	Na	Na	Na	Na	Het;C>T	44;5|4	Hom;C>T	226;0|10
N	N	-	12	133146416	133146416	A	G	snp	intronic	 	 	 	 	FBRSL1	Fbrsl1	ENSG00000112787	fibrosin like 1	chr12:133066137-133161774			 				GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FBRSL1	https://www.uniprot.org/uniprot/Q9HCM7			http://www.informatics.jax.org/searchtool/Search.do?query=FBRSL1&submit=Quick%0D%4291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBRSL1	rs7312710	0.379393	0	0	1	0	0	intronic	intronic	intronic	FBRSL1	FBRSL1	ENSG00000112787	Na	Na	Na	Na	Na	Na	Het;A>G	31;5|2	Hom;A>G	289;0|10
N	N	-	12	133153281	133153281	A	T	snp	intronic	 	 	 	 	FBRSL1	Fbrsl1	ENSG00000112787	fibrosin like 1	chr12:133066137-133161774			 				GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FBRSL1	https://www.uniprot.org/uniprot/Q9HCM7			http://www.informatics.jax.org/searchtool/Search.do?query=FBRSL1&submit=Quick%0D%4291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBRSL1	rs10870473	0.826478	0	0	1	0	0	intronic	intronic	intronic	FBRSL1	FBRSL1	ENSG00000112787	Na	Na	Na	Na	Na	Na	Het;A>T	357;14|14	Hom;A>T	332;0|10
N	N	-	12	133159733	133159733	C	T	snp	nonsynonymous SNV	C2507T	A836V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FBRSL1	Fbrsl1	ENSG00000112787	fibrosin like 1	chr12:133066137-133161774			 				GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FBRSL1	https://www.uniprot.org/uniprot/Q9HCM7			http://www.informatics.jax.org/searchtool/Search.do?query=FBRSL1&submit=Quick%0D%4291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBRSL1	rs11550079	0.544129	0	0.4782	0.17	2	12	exonic	exonic	exonic	FBRSL1	FBRSL1	ENSG00000112787	nonsynonymous SNV	nonsynonymous SNV	unknown	FBRSL1:NM_001142641:exon17:c.C2507T:p.A836V,	FBRSL1:uc001ukf.3:exon17:c.C2507T:p.A836V,	UNKNOWN	Het;C>T	545;8|25	Hom;C>T	721;0|29
N	N	-	12	133310887	133310887	C	T	snp	intronic	 	 	 	 	ANKLE2	Ankle2	ENSG00000176915	ankyrin repeat and LEM domain containing 2	chr12:133302254-133338474	This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]	MICROCEPHALY 16 PRIMARY AUTOSOMAL RECESSIVE	 	Initiation of Nuclear Envelope Reformation	GO:0007049;cell cycle;IEA|GO:0007084;mitotic nuclear envelope reassembly;TAS|GO:0007417;central nervous system development;IDA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0042326;negative regulation of phosphorylation;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0050790;regulation of catalytic activity;TAS|GO:0051301;cell division;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA	GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;TAS|GO:0051721;protein phosphatase 2A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANKLE2		https://hpo.jax.org/app/browse/search?q=ANKLE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616062	http://www.informatics.jax.org/searchtool/Search.do?query=ANKLE2&submit=Quick%0D%13934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKLE2	rs7969633	0.754992	0	0	1	0	0	intronic	intronic	intronic	ANKLE2	ANKLE2	ENSG00000176915	Na	Na	Na	Na	Na	Na	Het;C>T	39;3|3	Hom;C>T	227;0|9
N	N	-	12	133311888	133311888	C	G	snp	intronic	 	 	 	 	ANKLE2	Ankle2	ENSG00000176915	ankyrin repeat and LEM domain containing 2	chr12:133302254-133338474	This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]	MICROCEPHALY 16 PRIMARY AUTOSOMAL RECESSIVE	 	Initiation of Nuclear Envelope Reformation	GO:0007049;cell cycle;IEA|GO:0007084;mitotic nuclear envelope reassembly;TAS|GO:0007417;central nervous system development;IDA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0042326;negative regulation of phosphorylation;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0050790;regulation of catalytic activity;TAS|GO:0051301;cell division;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA	GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;TAS|GO:0051721;protein phosphatase 2A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANKLE2		https://hpo.jax.org/app/browse/search?q=ANKLE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616062	http://www.informatics.jax.org/searchtool/Search.do?query=ANKLE2&submit=Quick%0D%13934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKLE2	rs10781636	0.559305	0	0	1	0	0	intronic	intronic	intronic	ANKLE2	ANKLE2	ENSG00000176915	Na	Na	Na	Na	Na	Na	Het;C>G	89;9|4	Hom;C>G	623;0|20
N	N	-	12	133311944	133311944	T	C	snp	intronic	 	 	 	 	ANKLE2	Ankle2	ENSG00000176915	ankyrin repeat and LEM domain containing 2	chr12:133302254-133338474	This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]	MICROCEPHALY 16 PRIMARY AUTOSOMAL RECESSIVE	 	Initiation of Nuclear Envelope Reformation	GO:0007049;cell cycle;IEA|GO:0007084;mitotic nuclear envelope reassembly;TAS|GO:0007417;central nervous system development;IDA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0042326;negative regulation of phosphorylation;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0050790;regulation of catalytic activity;TAS|GO:0051301;cell division;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA	GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;TAS|GO:0051721;protein phosphatase 2A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANKLE2		https://hpo.jax.org/app/browse/search?q=ANKLE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616062	http://www.informatics.jax.org/searchtool/Search.do?query=ANKLE2&submit=Quick%0D%13934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKLE2	rs10747081	0.646366	0.6054	0.6488	1	0	0	intronic	intronic	intronic	ANKLE2	ANKLE2	ENSG00000176915	Na	Na	Na	Na	Na	Na	Het;T>C	401;24|16	Hom;T>C	1466;0|48
N	N	-	12	13520273	13520273	A	C	snp	intergenic	 	 	 	 	EMP1	Emp1	ENSG00000134531	epithelial membrane protein 1	chr12:13349650-13369708		Myocardial Infarction; longevity; Hip	Homozygous mice do not exhibit an overt mutant phenotype in any parameter tested.		GO:0007275;multicellular organism development;TAS|GO:0008219;cell death;IDA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0016049;cell growth;IEA|GO:0032060;bleb assembly;IDA	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EMP1	https://www.uniprot.org/uniprot/P54849		https://www.ncbi.nlm.nih.gov/omim/?term=602333	http://www.informatics.jax.org/searchtool/Search.do?query=EMP1&submit=Quick%0D%6992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EMP1	rs7302348	0.22484	0	0	1	0	0	intergenic	intergenic	intergenic	EMP1(dist=150565),LINC01559(dist=3332)	EMP1(dist=150565),C12orf36(dist=3332)	ENSG00000134531(dist=150565),ENSG00000180861(dist=3750)	Na	Na	Na	Na	Na	Na	Het;A>C	32;4|2	Hom;A>C	57;0|3
N	N	-	12	1372114	1372114	A	G	snp	intronic	 	 	 	 	ERC1	Erc1	ENSG00000283017	ELKS/RAB6-interacting/CAST family member 1	chr12:1099675-1605099	The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference	Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ERC1	https://www.uniprot.org/uniprot/Q8IUD2		https://www.ncbi.nlm.nih.gov/omim/?term=607127	http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1	rs2286031	0.447883	0	0	1	0	0	intronic	intronic	intronic	ERC1	ERC1	ENSG00000082805	Na	Na	Na	Na	Na	Na	Het;A>G	105;5|4	Hom;A>G	276;0|8
N	N	-	12	14947675	14947676	TA	T	indel	intronic	 	 	 	 	WBP11	Wbp11	ENSG00000084463	WW domain binding protein 11	chr12:14939410-14956474	This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]		 	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006364;rRNA processing;IEA|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0045292;mRNA cis splicing, via spliceosome;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003697;single-stranded DNA binding;TAS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;IEA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WBP11	https://www.uniprot.org/uniprot/Q9Y2W2			http://www.informatics.jax.org/searchtool/Search.do?query=WBP11&submit=Quick%0D%1861ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP11	rs34868934	0.41853	0.4410	0.4416	1	0	0	intronic	intronic	intronic	WBP11	WBP11	ENSG00000084463	Na	Na	Na	Na	Na	Na	Het;-A	785;7|37	Hom;-A	978;3|47
N	N	-	12	14959391	14959391	T	C	snp	nonsynonymous SNV	A224G	K75R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SMCO3	Smco3	ENSG00000179256	single-pass membrane protein with coiled-coil domains 3	chr12:14957584-14967116			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMCO3				http://www.informatics.jax.org/searchtool/Search.do?query=SMCO3&submit=Quick%0D%14315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMCO3	rs2241221	0.189896	0.1837	0.1569	0.17	2	12	exonic	exonic	exonic	SMCO3	SMCO3	ENSG00000179256	nonsynonymous SNV	nonsynonymous SNV	unknown	SMCO3:NM_001013698:exon2:c.A224G:p.K75R,	SMCO3:uc021qvp.1:exon1:c.A224G:p.K75R,SMCO3:uc001rck.1:exon2:c.A224G:p.K75R,	UNKNOWN	Het;T>C	1871;110|83	Hom;T>C	6209;0|218
N	N	-	12	14976063	14976063	A	G	snp	nonsynonymous SNV	A194G	K65R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	C12orf60	BC049715	ENSG00000182993	chromosome 12 open reading frame 60	chr12:14956506-15059520			 					http://www.genecards.org/index.php?path=/Search/keyword/C12orf60				http://www.informatics.jax.org/searchtool/Search.do?query=C12orf60&submit=Quick%0D%14897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf60	rs7304054	0.190296	0.1891	0.1573	0.15	2	13	exonic	exonic	exonic	C12orf60	C12orf60	ENSG00000182993	nonsynonymous SNV	nonsynonymous SNV	unknown	C12orf60:NM_175874:exon2:c.A194G:p.K65R,	C12orf60:uc001rcj.4:exon2:c.A194G:p.K65R,C12orf60:uc021qvq.1:exon1:c.A194G:p.K65R,	UNKNOWN	Het;A>G	2360;63|100	Hom;A>G	4276;0|145
N	N	-	12	14976178	14976178	T	A	snp	nonsynonymous SNV	T309A	N103K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	C12orf60	BC049715	ENSG00000182993	chromosome 12 open reading frame 60	chr12:14956506-15059520			 					http://www.genecards.org/index.php?path=/Search/keyword/C12orf60				http://www.informatics.jax.org/searchtool/Search.do?query=C12orf60&submit=Quick%0D%14897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf60	rs7307438	0.190296	0.1891	0.1572	0.15	2	13	exonic	exonic	exonic	C12orf60	C12orf60	ENSG00000182993	nonsynonymous SNV	nonsynonymous SNV	unknown	C12orf60:NM_175874:exon2:c.T309A:p.N103K,	C12orf60:uc001rcj.4:exon2:c.T309A:p.N103K,C12orf60:uc021qvq.1:exon1:c.T309A:p.N103K,	UNKNOWN	Het;T>A	1976;107|91	Hom;T>A	3809;0|132
N	N	-	12	14976417	14976419	CTA	C	indel	frameshift substitution	548_550C	 	 	 	C12orf60	BC049715	ENSG00000182993	chromosome 12 open reading frame 60	chr12:14956506-15059520			 					http://www.genecards.org/index.php?path=/Search/keyword/C12orf60				http://www.informatics.jax.org/searchtool/Search.do?query=C12orf60&submit=Quick%0D%14897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf60	rs10556010	0.190096	0.1905	0.1575	1	0	0	exonic	exonic	exonic	C12orf60	C12orf60	ENSG00000182993	frameshift substitution	frameshift substitution	unknown	C12orf60:NM_175874:exon2:c.548_550C,	C12orf60:uc001rcj.4:exon2:c.548_550C,C12orf60:uc021qvq.1:exon1:c.548_550C,	UNKNOWN	Het;-TA	1957;63|52	Hom;-TA	4492;0|101
N	N	-	12	15095558	15095558	C	G	snp	synonymous SNV	G504C	A168A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGDIB	Arhgdib	ENSG00000111348	Rho GDP dissociation inhibitor beta	chr12:15094951-15114662	Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]	chronic obstructive pulmonary disease; prostate cancer; lung cancer ; lung cancer; bladder cancer	A homozygous null mutation results in mice that are viable and fertile.  Immune responses are similar to controls in mice, but in vitro analysis demonstrated an increased B cell proliferative response upon lectin stimulation.	Rho GTPase cycle	GO:0006928;movement of cell or subcellular component;TAS|GO:0007162;negative regulation of cell adhesion;TAS|GO:0007275;multicellular organism development;TAS|GO:0035023;regulation of Rho protein signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0071461;cellular response to redox state;IEA|GO:1901164;negative regulation of trophoblast cell migration;IDA|GO:2000249;regulation of actin cytoskeleton reorganization;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0070062;extracellular exosome;IDA	GO:0003924;GTPase activity;IMP|GO:0005094;Rho GDP-dissociation inhibitor activity;TAS|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0048365;Rac GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGDIB	https://www.uniprot.org/uniprot/P52566		https://www.ncbi.nlm.nih.gov/omim/?term=602843	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGDIB&submit=Quick%0D%4069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGDIB	rs4703	0.481829	0.4944	0.5273	1	0	0	exonic	exonic	exonic	ARHGDIB	ARHGDIB	ENSG00000111348	synonymous SNV	synonymous SNV	unknown	ARHGDIB:NM_001175:exon6:c.G504C:p.A168A,	ARHGDIB:uc001rcq.1:exon6:c.G504C:p.A168A,	UNKNOWN	Het;C>G	1359;75|65	Hom;C>G	3621;0|122
N	N	-	12	15095707	15095707	T	C	snp	intronic	 	 	 	 	ARHGDIB	Arhgdib	ENSG00000111348	Rho GDP dissociation inhibitor beta	chr12:15094951-15114662	Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]	chronic obstructive pulmonary disease; prostate cancer; lung cancer ; lung cancer; bladder cancer	A homozygous null mutation results in mice that are viable and fertile.  Immune responses are similar to controls in mice, but in vitro analysis demonstrated an increased B cell proliferative response upon lectin stimulation.	Rho GTPase cycle	GO:0006928;movement of cell or subcellular component;TAS|GO:0007162;negative regulation of cell adhesion;TAS|GO:0007275;multicellular organism development;TAS|GO:0035023;regulation of Rho protein signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0071461;cellular response to redox state;IEA|GO:1901164;negative regulation of trophoblast cell migration;IDA|GO:2000249;regulation of actin cytoskeleton reorganization;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0070062;extracellular exosome;IDA	GO:0003924;GTPase activity;IMP|GO:0005094;Rho GDP-dissociation inhibitor activity;TAS|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0048365;Rac GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGDIB	https://www.uniprot.org/uniprot/P52566		https://www.ncbi.nlm.nih.gov/omim/?term=602843	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGDIB&submit=Quick%0D%4069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGDIB	rs10772822	0.750799	0.8049	0.8063	1	0	0	intronic	intronic	intronic	ARHGDIB	ARHGDIB	ENSG00000111348	Na	Na	Na	Na	Na	Na	Het;T>C	401;17|18	Hom;T>C	1152;0|37
N	N	-	12	15209850	15209850	G	T	snp	intergenic	 	 	 	 	LINC01489																		rs12427308	0.33147	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01489(dist=50233),RERG(dist=50866)	PDE6H(dist=75051),RERG(dist=50866)	ENSG00000255727(dist=50233),ENSG00000134533(dist=50867)	Na	Na	Na	Na	Na	Na	Het;G>T	103;8|5	Hom;G>T	654;0|22
N	N	-	12	1589868	1589868	T	TGAA	indel	intronic	 	 	 	 	ERC1	Erc1	ENSG00000283017	ELKS/RAB6-interacting/CAST family member 1	chr12:1099675-1605099	The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference	Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ERC1	https://www.uniprot.org/uniprot/Q8IUD2		https://www.ncbi.nlm.nih.gov/omim/?term=607127	http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1	rs111377772	0.425319	0	0	1	0	0	intronic	intronic	intronic	ERC1	ERC1	ENSG00000082805	Na	Na	Na	Na	Na	Na	Het;+GAA	38;3|2	Hom;+GAA	233;0|6
N	N	-	12	1604490	1604490	A	C	snp	UTR3	*5094A>C	 	 	 	ERC1	Erc1	ENSG00000283017	ELKS/RAB6-interacting/CAST family member 1	chr12:1099675-1605099	The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference	Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ERC1	https://www.uniprot.org/uniprot/Q8IUD2		https://www.ncbi.nlm.nih.gov/omim/?term=607127	http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1	rs1046473	0.501398	0	0	1	0	0	UTR3	UTR3	UTR3	ERC1(NM_178039:c.*5094A>C,NM_178040:c.*5094A>C,NM_001301248:c.*5240A>C)	ERC1(uc001qjb.2:c.*5094A>C,uc001qjc.2:c.*5094A>C,uc001qjf.2:c.*5240A>C)	ENSG00000082805(ENST00000543086:c.*5094A>C,ENST00000397203:c.*5094A>C,ENST00000589028:c.*5094A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	1436;52|54	Hom;A>C	2774;1|93
N	N	-	12	16185463	16185465	CTT	C	indel	intronic	 	 	 	 	DERA	Dera	ENSG00000023697	deoxyribose-phosphate aldolase	chr12:16064106-16190220		Kidney Diseases; Tobacco Use Disorder; Cholesterol, HDL	 	Pentose phosphate pathway (hexose monophosphate shunt)	GO:0006098;pentose-phosphate shunt;TAS|GO:0009264;deoxyribonucleotide catabolic process;IBA|GO:0016052;carbohydrate catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046121;deoxyribonucleoside catabolic process;IDA|GO:0046386;deoxyribose phosphate catabolic process;IEA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003824;catalytic activity;IEA|GO:0004139;deoxyribose-phosphate aldolase activity;TAS|GO:0016829;lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DERA	https://www.uniprot.org/uniprot/Q9Y315			http://www.informatics.jax.org/searchtool/Search.do?query=DERA&submit=Quick%0D%687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DERA	rs397780015	0.353634	0.4800	0.5654	1	0	0	intronic	intronic	intronic	DERA	DERA	ENSG00000023697	Na	Na	Na	Na	Na	Na	Het;-TT	719;34|22	Hom;-TT	2905;0|72
N	N	-	12	19410474	19410475	AT	A	indel	intronic	 	 	 	 	PLEKHA5	Plekha5	ENSG00000052126	pleckstrin homology domain containing A5	chr12:19282648-19529334		Body Height; Body Weight; Body Mass Index	 	Synthesis of PIPs at the plasma membrane	GO:0008150;biological_process;ND|GO:0061458;reproductive system development;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;NAS|GO:0010314;phosphatidylinositol-5-phosphate binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0070273;phosphatidylinositol-4-phosphate binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA5	https://www.uniprot.org/uniprot/Q9HAU0		https://www.ncbi.nlm.nih.gov/omim/?term=607770	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA5&submit=Quick%0D%945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA5	rs10706958	0.383586	0	0.3514	1	0	0	intronic	intronic	intronic	PLEKHA5	PLEKHA5	ENSG00000052126	Na	Na	Na	Na	Na	Na	Het;-T	1274;60|83	Hom;-T	2820;7|139
N	N	-	12	19423103	19423103	A	G	snp	intronic	 	 	 	 	PLEKHA5	Plekha5	ENSG00000052126	pleckstrin homology domain containing A5	chr12:19282648-19529334		Body Height; Body Weight; Body Mass Index	 	Synthesis of PIPs at the plasma membrane	GO:0008150;biological_process;ND|GO:0061458;reproductive system development;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;NAS|GO:0010314;phosphatidylinositol-5-phosphate binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0070273;phosphatidylinositol-4-phosphate binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA5	https://www.uniprot.org/uniprot/Q9HAU0		https://www.ncbi.nlm.nih.gov/omim/?term=607770	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA5&submit=Quick%0D%945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA5	rs7978729	0.14397	0	0.2114	1	0	0	intronic	intronic	intronic	PLEKHA5	PLEKHA5	ENSG00000052126	Na	Na	Na	Na	Na	Na	Het;A>G	261;6|14	Hom;A>G	1545;0|59
N	N	-	12	19472835	19472835	A	G	snp	intronic	 	 	 	 	PLEKHA5	Plekha5	ENSG00000052126	pleckstrin homology domain containing A5	chr12:19282648-19529334		Body Height; Body Weight; Body Mass Index	 	Synthesis of PIPs at the plasma membrane	GO:0008150;biological_process;ND|GO:0061458;reproductive system development;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;NAS|GO:0010314;phosphatidylinositol-5-phosphate binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0070273;phosphatidylinositol-4-phosphate binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA5	https://www.uniprot.org/uniprot/Q9HAU0		https://www.ncbi.nlm.nih.gov/omim/?term=607770	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA5&submit=Quick%0D%945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA5	rs12825616	0.0976438	0	0	1	0	0	intronic	intronic	intronic	PLEKHA5	PLEKHA5	ENSG00000052126	Na	Na	Na	Na	Na	Na	Het;A>G	75;8|4	Hom;A>G	430;0|14
N	N	-	12	19512622	19512622	G	A	snp	intronic	 	 	 	 	PLEKHA5	Plekha5	ENSG00000052126	pleckstrin homology domain containing A5	chr12:19282648-19529334		Body Height; Body Weight; Body Mass Index	 	Synthesis of PIPs at the plasma membrane	GO:0008150;biological_process;ND|GO:0061458;reproductive system development;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;NAS|GO:0010314;phosphatidylinositol-5-phosphate binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0070273;phosphatidylinositol-4-phosphate binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA5	https://www.uniprot.org/uniprot/Q9HAU0		https://www.ncbi.nlm.nih.gov/omim/?term=607770	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA5&submit=Quick%0D%945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA5	rs12809600	0.0850639	0	0	1	0	0	intronic	intronic	intronic	PLEKHA5	PLEKHA5	ENSG00000052126	Na	Na	Na	Na	Na	Na	Het;G>A	123;13|6	Hom;G>A	503;0|17
N	N	-	12	19519133	19519133	C	T	snp	intronic	 	 	 	 	PLEKHA5	Plekha5	ENSG00000052126	pleckstrin homology domain containing A5	chr12:19282648-19529334		Body Height; Body Weight; Body Mass Index	 	Synthesis of PIPs at the plasma membrane	GO:0008150;biological_process;ND|GO:0061458;reproductive system development;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;NAS|GO:0010314;phosphatidylinositol-5-phosphate binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0070273;phosphatidylinositol-4-phosphate binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA5	https://www.uniprot.org/uniprot/Q9HAU0		https://www.ncbi.nlm.nih.gov/omim/?term=607770	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA5&submit=Quick%0D%945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA5	rs1344717	0.151957	0	0	1	0	0	intronic	intronic	intronic	PLEKHA5	PLEKHA5	ENSG00000052126	Na	Na	Na	Na	Na	Na	Het;C>T	362;8|16	Hom;C>T	606;0|23
N	N	-	12	19610213	19610213	C	T	snp	ncRNA_exonic	 	 	 	 	EEF1A1P4																		rs7966663	0.32508	0	0	1	0	0	intronic	intronic	ncRNA_exonic	AEBP2	AEBP2	ENSG00000245205	Na	Na	Na	Na	Na	Na	Het;C>T	273;6|12	Hom;C>T	414;0|14
N	N	-	12	19626313	19626313	T	TAA	indel	intronic	 	 	 	 	AEBP2	Aebp2	ENSG00000139154	AE binding protein 2	chr12:19556979-19873735		Cardiomegaly; Pulse; Memory	Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEBP2	https://www.uniprot.org/uniprot/Q6ZN18			http://www.informatics.jax.org/searchtool/Search.do?query=AEBP2&submit=Quick%0D%7836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEBP2	rs10631217	0	0.7328	0.2153	1	0	0	intronic	intronic	intronic	AEBP2	AEBP2	ENSG00000139154	Na	Na	Na	Na	Na	Na	Het;+AA	1612;43|49	Hom;+AA	5565;0|128
N	N	-	12	19626314	19626314	T	TTA	indel	intronic	 	 	 	 	AEBP2	Aebp2	ENSG00000139154	AE binding protein 2	chr12:19556979-19873735		Cardiomegaly; Pulse; Memory	Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEBP2	https://www.uniprot.org/uniprot/Q6ZN18			http://www.informatics.jax.org/searchtool/Search.do?query=AEBP2&submit=Quick%0D%7836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEBP2	rs546038420	0	0	0.0828	1	0	0	intronic	intronic	intronic	AEBP2	AEBP2	ENSG00000139154	Na	Na	Na	Na	Na	Na	Het;+TA	1612;44|49	Hom;+TA	5565;0|121
N	N	-	12	19626318	19626318	T	A	snp	intronic	 	 	 	 	AEBP2	Aebp2	ENSG00000139154	AE binding protein 2	chr12:19556979-19873735		Cardiomegaly; Pulse; Memory	Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEBP2	https://www.uniprot.org/uniprot/Q6ZN18			http://www.informatics.jax.org/searchtool/Search.do?query=AEBP2&submit=Quick%0D%7836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEBP2	rs57423687	0.608227	0	0.2718	1	0	0	intronic	intronic	intronic	AEBP2	AEBP2	ENSG00000139154	Na	Na	Na	Na	Na	Na	Het;T>A	1622;44|49	Hom;T>A	5327;0|115
N	N	-	12	19670944	19670944	T	C	snp	intronic	 	 	 	 	AEBP2	Aebp2	ENSG00000139154	AE binding protein 2	chr12:19556979-19873735		Cardiomegaly; Pulse; Memory	Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEBP2	https://www.uniprot.org/uniprot/Q6ZN18			http://www.informatics.jax.org/searchtool/Search.do?query=AEBP2&submit=Quick%0D%7836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEBP2	rs12821385	0.0808706	0.1011	0	1	0	0	intronic	intronic	intronic	AEBP2	AEBP2	ENSG00000139154	Na	Na	Na	Na	Na	Na	Het;T>C	407;12|17	Hom;T>C	616;1|23
N	N	-	12	21015815	21015815	T	G	snp	intronic	 	 	 	 	SLCO1B3	Slco1b2	ENSG00000111700	solute carrier organic anion transporter family member 1B3	chr12:20963636-21243040	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012]	height; Hemoglobins; Tuberculosis; null; Leukemia, Myeloid, Chronic-Phase; Kidney Failure; Neoplasms; Hyperbilirubinemia; mycophenolic acid pharmacokinetics; Bilirubin; Chronic renal failure|Kidney Failure, Chronic; Leukopenia|Neutropenia; prostate cancer; docetaxel elimination; Lymphoma, T-Cell, Cutaneous|Lymphoma, T-Cell, Peripheral|Skin Neoplasms; drug-related genes ; Cholesterol, LDL; paclitaxel pharmacokinetics	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015125;bile acid transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B3	https://www.uniprot.org/uniprot/Q9NPD5	https://hpo.jax.org/app/browse/search?q=SLCO1B3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605495	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B3&submit=Quick%0D%4115ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B3	rs16923270	0.0836661	0.0444	0.0563	1	0	0	intronic	intronic	intronic	SLCO1B3	SLCO1B3,SLCO1B7	ENSG00000111700,ENSG00000205754,ENSG00000257046	Na	Na	Na	Na	Na	Na	Het;T>G	1277;39|56	Hom;T>G	3592;0|126
N	N	-	12	21015864	21015864	C	G	snp	intronic	 	 	 	 	SLCO1B3	Slco1b2	ENSG00000111700	solute carrier organic anion transporter family member 1B3	chr12:20963636-21243040	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012]	height; Hemoglobins; Tuberculosis; null; Leukemia, Myeloid, Chronic-Phase; Kidney Failure; Neoplasms; Hyperbilirubinemia; mycophenolic acid pharmacokinetics; Bilirubin; Chronic renal failure|Kidney Failure, Chronic; Leukopenia|Neutropenia; prostate cancer; docetaxel elimination; Lymphoma, T-Cell, Cutaneous|Lymphoma, T-Cell, Peripheral|Skin Neoplasms; drug-related genes ; Cholesterol, LDL; paclitaxel pharmacokinetics	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015125;bile acid transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B3	https://www.uniprot.org/uniprot/Q9NPD5	https://hpo.jax.org/app/browse/search?q=SLCO1B3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605495	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B3&submit=Quick%0D%4115ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B3	rs71583718	0.0678914	0	0	1	0	0	intronic	intronic	intronic	SLCO1B3	SLCO1B3,SLCO1B7	ENSG00000111700,ENSG00000205754,ENSG00000257046	Na	Na	Na	Na	Na	Na	Het;C>G	879;17|30	Hom;C>G	1734;0|54
N	N	-	12	21030584	21030584	G	A	snp	intronic	 	 	 	 	SLCO1B3	Slco1b2	ENSG00000111700	solute carrier organic anion transporter family member 1B3	chr12:20963636-21243040	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012]	height; Hemoglobins; Tuberculosis; null; Leukemia, Myeloid, Chronic-Phase; Kidney Failure; Neoplasms; Hyperbilirubinemia; mycophenolic acid pharmacokinetics; Bilirubin; Chronic renal failure|Kidney Failure, Chronic; Leukopenia|Neutropenia; prostate cancer; docetaxel elimination; Lymphoma, T-Cell, Cutaneous|Lymphoma, T-Cell, Peripheral|Skin Neoplasms; drug-related genes ; Cholesterol, LDL; paclitaxel pharmacokinetics	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015125;bile acid transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B3	https://www.uniprot.org/uniprot/Q9NPD5	https://hpo.jax.org/app/browse/search?q=SLCO1B3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605495	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B3&submit=Quick%0D%4115ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B3	rs4149136	0.0878594	0	0	1	0	0	intronic	intronic	intronic	SLCO1B3	SLCO1B3,SLCO1B7	ENSG00000111700,ENSG00000205754,ENSG00000257046	Na	Na	Na	Na	Na	Na	Het;G>A	294;0|8	Hom;G>A	366;0|9
N	N	-	12	21369985	21369985	G	A	snp	intronic	 	 	 	 	SLCO1B1		ENSG00000134538	solute carrier organic anion transporter family member 1B1	chr12:21284136-21392180	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]	Colorectal Neoplasms|Neutropenia; Gastrointestinal Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; rosuvastatin pharmacokinetics; Delta9-tetrahydrocannabinol; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Chronic renal failure|Kidney Failure, Chronic; pravastatin pharmcokinetics; Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; bilirubin; null; rifampicin pharmacokinetics; nateglinide pharmacokinetics; Neoplasms|Neutropenia; simvastatin pharmacokinetics; atorvastatin pharmacokinetics rosuvastatin pharmacokinetics; Bilirubin; lopinavir accumulation; Metabolism; drug-related genes ; Hyperbilirubinemia, Neonatal; rheumatoid arthritis; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; cholesterol synthesis rate; Acute Coronary Syndrome; altered OATP-C transport activity; serum bilirubin levels; Hypercholesterolemia|LDLC levels; pravastatin pharmacokinetics temocapril pharmacokinetics valsartan pharmacokinetics; Hyperbilirubinemia, Hereditary; mycophenolic acid pharmacokinetics; pharmacogenetics of cyclosporine; atrasentan phamacokinetics; simvastatin pharmacokinetics talinol pharmacokinetics; Jaundice, Neonatal|Neonatal Jaundice; Gallstones|; Hypercholesterolemia; Birth Weight|Hyperbilirubinemia, Neonatal; Hyperlipidemias; obesity; cholesterol, LDL; Tuberculosis; pravastatin ; pitavastatin pharmacokinetics; pharmacogenetic studies; Muscular Diseases; response to statin therapy; normal variation; Coronary Artery Disease|; lung cancer; hypertension; cholesterol; irinotecan pharmacokinetics; Diabetes Mellitus, Type 2; repaglinide pharmacokinetics; Type 2 diabetes; cholesterol, LDL pravastatin parmacokinetics; cholesterol, HDL cholesterol, LDL heart transplant; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; cholesterol; lathosterol; Arterial Occlusive Diseases|Diabetes Mellitus|Muscular Diseases|Myocardial Infarction; Disorder of muscle, unspec|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Muscular Diseases; Biliary calculi|Gallstones|Gilbert Disease; HIV Infections|[X]Human immunodeficiency virus disease; Myocardial Infarction	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015125;bile acid transmembrane transporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS|GO:0015349;thyroid hormone transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B1	https://www.uniprot.org/uniprot/Q9Y6L6	https://hpo.jax.org/app/browse/search?q=SLCO1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604843	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B1&submit=Quick%0D%6995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B1	rs4149072	0.186302	0	0	1	0	0	intronic	intronic	intronic	SLCO1B1	SLCO1B1	ENSG00000134538	Na	Na	Na	Na	Na	Na	Het;G>A	50;6|3	Hom;G>A	145;0|5
N	N	-	12	21382508	21382508	G	A	snp	intronic	 	 	 	 	SLCO1B1		ENSG00000134538	solute carrier organic anion transporter family member 1B1	chr12:21284136-21392180	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]	Colorectal Neoplasms|Neutropenia; Gastrointestinal Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; rosuvastatin pharmacokinetics; Delta9-tetrahydrocannabinol; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Chronic renal failure|Kidney Failure, Chronic; pravastatin pharmcokinetics; Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; bilirubin; null; rifampicin pharmacokinetics; nateglinide pharmacokinetics; Neoplasms|Neutropenia; simvastatin pharmacokinetics; atorvastatin pharmacokinetics rosuvastatin pharmacokinetics; Bilirubin; lopinavir accumulation; Metabolism; drug-related genes ; Hyperbilirubinemia, Neonatal; rheumatoid arthritis; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; cholesterol synthesis rate; Acute Coronary Syndrome; altered OATP-C transport activity; serum bilirubin levels; Hypercholesterolemia|LDLC levels; pravastatin pharmacokinetics temocapril pharmacokinetics valsartan pharmacokinetics; Hyperbilirubinemia, Hereditary; mycophenolic acid pharmacokinetics; pharmacogenetics of cyclosporine; atrasentan phamacokinetics; simvastatin pharmacokinetics talinol pharmacokinetics; Jaundice, Neonatal|Neonatal Jaundice; Gallstones|; Hypercholesterolemia; Birth Weight|Hyperbilirubinemia, Neonatal; Hyperlipidemias; obesity; cholesterol, LDL; Tuberculosis; pravastatin ; pitavastatin pharmacokinetics; pharmacogenetic studies; Muscular Diseases; response to statin therapy; normal variation; Coronary Artery Disease|; lung cancer; hypertension; cholesterol; irinotecan pharmacokinetics; Diabetes Mellitus, Type 2; repaglinide pharmacokinetics; Type 2 diabetes; cholesterol, LDL pravastatin parmacokinetics; cholesterol, HDL cholesterol, LDL heart transplant; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; cholesterol; lathosterol; Arterial Occlusive Diseases|Diabetes Mellitus|Muscular Diseases|Myocardial Infarction; Disorder of muscle, unspec|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Muscular Diseases; Biliary calculi|Gallstones|Gilbert Disease; HIV Infections|[X]Human immunodeficiency virus disease; Myocardial Infarction	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015125;bile acid transmembrane transporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS|GO:0015349;thyroid hormone transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B1	https://www.uniprot.org/uniprot/Q9Y6L6	https://hpo.jax.org/app/browse/search?q=SLCO1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604843	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B1&submit=Quick%0D%6995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B1	rs57159977	0.162939	0	0	1	0	0	intronic	intronic	intronic	SLCO1B1	SLCO1B1	ENSG00000134538	Na	Na	Na	Na	Na	Na	Het;G>A	317;3|12	Hom;G>A	337;1|14
N	N	-	12	21382730	21382730	T	G	snp	intronic	 	 	 	 	SLCO1B1		ENSG00000134538	solute carrier organic anion transporter family member 1B1	chr12:21284136-21392180	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]	Colorectal Neoplasms|Neutropenia; Gastrointestinal Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; rosuvastatin pharmacokinetics; Delta9-tetrahydrocannabinol; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Chronic renal failure|Kidney Failure, Chronic; pravastatin pharmcokinetics; Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; bilirubin; null; rifampicin pharmacokinetics; nateglinide pharmacokinetics; Neoplasms|Neutropenia; simvastatin pharmacokinetics; atorvastatin pharmacokinetics rosuvastatin pharmacokinetics; Bilirubin; lopinavir accumulation; Metabolism; drug-related genes ; Hyperbilirubinemia, Neonatal; rheumatoid arthritis; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; cholesterol synthesis rate; Acute Coronary Syndrome; altered OATP-C transport activity; serum bilirubin levels; Hypercholesterolemia|LDLC levels; pravastatin pharmacokinetics temocapril pharmacokinetics valsartan pharmacokinetics; Hyperbilirubinemia, Hereditary; mycophenolic acid pharmacokinetics; pharmacogenetics of cyclosporine; atrasentan phamacokinetics; simvastatin pharmacokinetics talinol pharmacokinetics; Jaundice, Neonatal|Neonatal Jaundice; Gallstones|; Hypercholesterolemia; Birth Weight|Hyperbilirubinemia, Neonatal; Hyperlipidemias; obesity; cholesterol, LDL; Tuberculosis; pravastatin ; pitavastatin pharmacokinetics; pharmacogenetic studies; Muscular Diseases; response to statin therapy; normal variation; Coronary Artery Disease|; lung cancer; hypertension; cholesterol; irinotecan pharmacokinetics; Diabetes Mellitus, Type 2; repaglinide pharmacokinetics; Type 2 diabetes; cholesterol, LDL pravastatin parmacokinetics; cholesterol, HDL cholesterol, LDL heart transplant; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; cholesterol; lathosterol; Arterial Occlusive Diseases|Diabetes Mellitus|Muscular Diseases|Myocardial Infarction; Disorder of muscle, unspec|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Muscular Diseases; Biliary calculi|Gallstones|Gilbert Disease; HIV Infections|[X]Human immunodeficiency virus disease; Myocardial Infarction	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015125;bile acid transmembrane transporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS|GO:0015349;thyroid hormone transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B1	https://www.uniprot.org/uniprot/Q9Y6L6	https://hpo.jax.org/app/browse/search?q=SLCO1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604843	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B1&submit=Quick%0D%6995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B1	rs717958	0.138379	0	0	1	0	0	intronic	intronic	intronic	SLCO1B1	SLCO1B1	ENSG00000134538	Na	Na	Na	Na	Na	Na	Het;T>G	681;17|25	Hom;T>G	619;2|20
N	N	-	12	21392562	21392562	T	G	snp	UTR3	*439T>G	 	 	 	SLCO1B1		ENSG00000134538	solute carrier organic anion transporter family member 1B1	chr12:21284136-21392180	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]	Colorectal Neoplasms|Neutropenia; Gastrointestinal Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; rosuvastatin pharmacokinetics; Delta9-tetrahydrocannabinol; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Chronic renal failure|Kidney Failure, Chronic; pravastatin pharmcokinetics; Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; bilirubin; null; rifampicin pharmacokinetics; nateglinide pharmacokinetics; Neoplasms|Neutropenia; simvastatin pharmacokinetics; atorvastatin pharmacokinetics rosuvastatin pharmacokinetics; Bilirubin; lopinavir accumulation; Metabolism; drug-related genes ; Hyperbilirubinemia, Neonatal; rheumatoid arthritis; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; cholesterol synthesis rate; Acute Coronary Syndrome; altered OATP-C transport activity; serum bilirubin levels; Hypercholesterolemia|LDLC levels; pravastatin pharmacokinetics temocapril pharmacokinetics valsartan pharmacokinetics; Hyperbilirubinemia, Hereditary; mycophenolic acid pharmacokinetics; pharmacogenetics of cyclosporine; atrasentan phamacokinetics; simvastatin pharmacokinetics talinol pharmacokinetics; Jaundice, Neonatal|Neonatal Jaundice; Gallstones|; Hypercholesterolemia; Birth Weight|Hyperbilirubinemia, Neonatal; Hyperlipidemias; obesity; cholesterol, LDL; Tuberculosis; pravastatin ; pitavastatin pharmacokinetics; pharmacogenetic studies; Muscular Diseases; response to statin therapy; normal variation; Coronary Artery Disease|; lung cancer; hypertension; cholesterol; irinotecan pharmacokinetics; Diabetes Mellitus, Type 2; repaglinide pharmacokinetics; Type 2 diabetes; cholesterol, LDL pravastatin parmacokinetics; cholesterol, HDL cholesterol, LDL heart transplant; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; cholesterol; lathosterol; Arterial Occlusive Diseases|Diabetes Mellitus|Muscular Diseases|Myocardial Infarction; Disorder of muscle, unspec|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Muscular Diseases; Biliary calculi|Gallstones|Gilbert Disease; HIV Infections|[X]Human immunodeficiency virus disease; Myocardial Infarction	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015125;bile acid transmembrane transporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS|GO:0015349;thyroid hormone transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B1	https://www.uniprot.org/uniprot/Q9Y6L6	https://hpo.jax.org/app/browse/search?q=SLCO1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604843	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B1&submit=Quick%0D%6995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B1	rs4149087	0.447684	0	0	1	0	0	UTR3	UTR3	downstream	SLCO1B1(NM_006446:c.*439T>G)	SLCO1B1(uc001req.4:c.*439T>G)	ENSG00000134538	Na	Na	Na	Na	Na	Na	Het;T>G	609;26|30	Hom;T>G	1547;1|60
N	N	-	12	21392586	21392586	A	G	snp	UTR3	*463A>G	 	 	 	SLCO1B1		ENSG00000134538	solute carrier organic anion transporter family member 1B1	chr12:21284136-21392180	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]	Colorectal Neoplasms|Neutropenia; Gastrointestinal Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; rosuvastatin pharmacokinetics; Delta9-tetrahydrocannabinol; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Chronic renal failure|Kidney Failure, Chronic; pravastatin pharmcokinetics; Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; bilirubin; null; rifampicin pharmacokinetics; nateglinide pharmacokinetics; Neoplasms|Neutropenia; simvastatin pharmacokinetics; atorvastatin pharmacokinetics rosuvastatin pharmacokinetics; Bilirubin; lopinavir accumulation; Metabolism; drug-related genes ; Hyperbilirubinemia, Neonatal; rheumatoid arthritis; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; cholesterol synthesis rate; Acute Coronary Syndrome; altered OATP-C transport activity; serum bilirubin levels; Hypercholesterolemia|LDLC levels; pravastatin pharmacokinetics temocapril pharmacokinetics valsartan pharmacokinetics; Hyperbilirubinemia, Hereditary; mycophenolic acid pharmacokinetics; pharmacogenetics of cyclosporine; atrasentan phamacokinetics; simvastatin pharmacokinetics talinol pharmacokinetics; Jaundice, Neonatal|Neonatal Jaundice; Gallstones|; Hypercholesterolemia; Birth Weight|Hyperbilirubinemia, Neonatal; Hyperlipidemias; obesity; cholesterol, LDL; Tuberculosis; pravastatin ; pitavastatin pharmacokinetics; pharmacogenetic studies; Muscular Diseases; response to statin therapy; normal variation; Coronary Artery Disease|; lung cancer; hypertension; cholesterol; irinotecan pharmacokinetics; Diabetes Mellitus, Type 2; repaglinide pharmacokinetics; Type 2 diabetes; cholesterol, LDL pravastatin parmacokinetics; cholesterol, HDL cholesterol, LDL heart transplant; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; cholesterol; lathosterol; Arterial Occlusive Diseases|Diabetes Mellitus|Muscular Diseases|Myocardial Infarction; Disorder of muscle, unspec|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Muscular Diseases; Biliary calculi|Gallstones|Gilbert Disease; HIV Infections|[X]Human immunodeficiency virus disease; Myocardial Infarction	Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015125;bile acid transmembrane transporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS|GO:0015349;thyroid hormone transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B1	https://www.uniprot.org/uniprot/Q9Y6L6	https://hpo.jax.org/app/browse/search?q=SLCO1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604843	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B1&submit=Quick%0D%6995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B1	rs4149088	0.448482	0	0	1	0	0	UTR3	UTR3	downstream	SLCO1B1(NM_006446:c.*463A>G)	SLCO1B1(uc001req.4:c.*463A>G)	ENSG00000134538	Na	Na	Na	Na	Na	Na	Het;A>G	570;34|28	Hom;A>G	1613;1|60
N	N	-	12	21680609	21680609	C	G	snp	intronic	 	 	 	 	SPX	Spx																	rs7966780	0.670527	0.6359	0	1	0	0	intronic	intronic	intronic	SPX	C12orf39	ENSG00000134548	Na	Na	Na	Na	Na	Na	Het;C>G	986;42|44	Hom;C>G	1894;0|68
N	N	-	12	21689882	21689882	T	A	snp	UTR3	*6A>T	 	 	 	GYS2	Gys2	ENSG00000111713	glycogen synthase 2	chr12:21689123-21757781	The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]	longevity; diabetes, type 2; liver disease; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Schizophrenia; BMI- Edema rosiglitazone or pioglitazone	Mice homozygous for a conditional allele knocked out in the liver results in abnormal glycogen homeostasis, altered glucose homeostasis, decreased exercise endurance, and a phenotype similar to patients with glycogen storage disease 0.	Glycogen storage disease type IV (GBE1)	GO:0005978;glycogen biosynthetic process;TAS|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0008152;metabolic process;IEA|GO:0009749;response to glucose;ISS	GO:0005737;cytoplasm;ISS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;ISS|GO:0005938;cell cortex;ISS|GO:0030864;cortical actin cytoskeleton;ISS|GO:0043265;ectoplasm;ISS	GO:0003824;catalytic activity;IEA|GO:0004373;glycogen (starch) synthase activity;EXP|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0042803;protein homodimerization activity;TAS|GO:0061547;glycogen synthase activity, transferring glucose-1-phosphate;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GYS2	https://www.uniprot.org/uniprot/P54840	https://hpo.jax.org/app/browse/search?q=GYS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138571	http://www.informatics.jax.org/searchtool/Search.do?query=GYS2&submit=Quick%0D%4119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GYS2	rs10431213	0.374601	0.2893	0.4090	1	0	0	UTR3	UTR3	UTR3	GYS2(NM_021957:c.*6A>T)	GYS2(uc001rfb.3:c.*6A>T)	ENSG00000111713(ENST00000261195:c.*6A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	1513;67|73	Hom;T>A	3532;0|132
N	N	-	12	22068849	22068849	G	T	snp	intronic	 	 	 	 	ABCC9	Abcc9	ENSG00000069431	ATP binding cassette subfamily C member 9	chr12:21950335-22094336	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]	null; myocardial infarct; drug-related genes ; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Maximal Midexpiratory Flow Rate; Alzheimer Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0010107;potassium ion import;ISS|GO:0042493;response to drug;IBA|GO:0051607;defense response to virus;IMP|GO:0055085;transmembrane transport;TAS|GO:0065009;regulation of molecular function;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030017;sarcomere;IEA|GO:0042383;sarcolemma;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;TAS|GO:0015459;potassium channel regulator activity;ISS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ABCC9	https://www.uniprot.org/uniprot/O60706	https://hpo.jax.org/app/browse/search?q=ABCC9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601439	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC9&submit=Quick%0D%1318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC9	rs3759236	0.644768	0.5879	0.6138	1	0	0	intronic	intronic	intronic	ABCC9	ABCC9	ENSG00000069431	Na	Na	Na	Na	Na	Na	Het;G>T	765;23|36	Hom;G>T	1225;0|45
N	N	-	12	22354466	22354466	C	A	snp	UTR3	*20G>T	 	 	 	ST8SIA1	St8sia1	ENSG00000111728	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	chr12:22216707-22589975	Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]	Body Composition; Nonalcoholic Fatty Liver Disease; Multiple Sclerosis; Tobacco Use Disorder	Homozygotes for a targeted allele are behaviorally normal with no signs of aberrant brain histology or demyelination. Homozygotes for a knock-out allele are behaviorally intact with normal nervous tissue morphology and sensitivity to Fas-mediated apoptosis but show impaired repair of damaged nerves.	Sialic acid metabolism	GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006688;glycosphingolipid biosynthetic process;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0034605;cellular response to heat;IEA|GO:0097503;sialylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030173;integral component of Golgi membrane;IEA	GO:0003828;alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST8SIA1	https://www.uniprot.org/uniprot/Q92185		https://www.ncbi.nlm.nih.gov/omim/?term=601123	http://www.informatics.jax.org/searchtool/Search.do?query=ST8SIA1&submit=Quick%0D%4124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST8SIA1	rs12581521	0.0794728	0.0152	0.0371	1	0	0	UTR3	UTR3	UTR3	ST8SIA1(NM_001304450:c.*20G>T,NM_003034:c.*20G>T)	ST8SIA1(uc001rfo.4:c.*20G>T,uc009zix.3:c.*20G>T)	ENSG00000111728(ENST00000396037:c.*20G>T,ENST00000261197:c.*573G>T,ENST00000539510:c.*20G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	614;10|16	Hom;C>A	1322;0|30
N	N	-	12	22354467	22354467	C	T	snp	UTR3	*19G>A	 	 	 	ST8SIA1	St8sia1	ENSG00000111728	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	chr12:22216707-22589975	Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]	Body Composition; Nonalcoholic Fatty Liver Disease; Multiple Sclerosis; Tobacco Use Disorder	Homozygotes for a targeted allele are behaviorally normal with no signs of aberrant brain histology or demyelination. Homozygotes for a knock-out allele are behaviorally intact with normal nervous tissue morphology and sensitivity to Fas-mediated apoptosis but show impaired repair of damaged nerves.	Sialic acid metabolism	GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006688;glycosphingolipid biosynthetic process;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0034605;cellular response to heat;IEA|GO:0097503;sialylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030173;integral component of Golgi membrane;IEA	GO:0003828;alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST8SIA1	https://www.uniprot.org/uniprot/Q92185		https://www.ncbi.nlm.nih.gov/omim/?term=601123	http://www.informatics.jax.org/searchtool/Search.do?query=ST8SIA1&submit=Quick%0D%4124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST8SIA1	rs12581522	0.0794728	0.0152	0.0372	1	0	0	UTR3	UTR3	UTR3	ST8SIA1(NM_001304450:c.*19G>A,NM_003034:c.*19G>A)	ST8SIA1(uc001rfo.4:c.*19G>A,uc009zix.3:c.*19G>A)	ENSG00000111728(ENST00000396037:c.*19G>A,ENST00000261197:c.*572G>A,ENST00000539510:c.*19G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	614;10|16	Hom;C>T	1322;0|30
N	N	-	12	23137853	23137855	CTA	C	indel	ncRNA_intronic	 	 	 	 	AK094733																		rs572020664	0.473043	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	ETNK1(dist=294245),LOC101928441(dist=190715)	AK094733	ENSG00000256995	Na	Na	Na	Na	Na	Na	Het;-TA	344;12|12	Hom;-TA	1593;1|44
N	N	-	12	23328727	23328727	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101928441																		rs1540564	0.545727	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928441	AK094733(dist=1670),SOX5(dist=356504)	ENSG00000256321	Na	Na	Na	Na	Na	Na	Het;G>T	1206;91|61	Hom;G>T	3556;6|140
N	N	-	12	23338482	23338482	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101928441																		rs1009143	0.543331	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928441	AK094733(dist=11425),SOX5(dist=346749)	ENSG00000256321	Na	Na	Na	Na	Na	Na	Het;C>T	1140;78|57	Hom;C>T	2545;1|100
N	N	-	12	235128	235128	T	C	snp	intronic	 	 	 	 	IQSEC3	Iqsec3	ENSG00000262607	IQ motif and Sec7 domain 3	chr12:175931-287626		Heart Failure; Bone Density	 		GO:0030036;actin cytoskeleton organization;IBA|GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQSEC3	https://www.uniprot.org/uniprot/Q9UPP2		https://www.ncbi.nlm.nih.gov/omim/?term=612118	http://www.informatics.jax.org/searchtool/Search.do?query=IQSEC3&submit=Quick%0D%20495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQSEC3	rs11608642	0.591254	0	0.7876	1	0	0	intronic	intronic	intronic	IQSEC3	IQSEC3	ENSG00000120645	Na	Na	Na	Na	Na	Na	Het;T>C	371;8|19	Hom;T>C	916;0|29
N	N	-	12	24640855	24640855	T	C	snp	ncRNA_intronic	 	 	 	 	AC069208.1																		rs7970266	0.732228	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SOX5	SOX5	ENSG00000255864	Na	Na	Na	Na	Na	Na	Het;T>C	38;3|2	Hom;T>C	362;0|11
N	N	-	12	25109072	25109072	C	T	snp	ncRNA_intronic	 	 	 	 	AC026310.2																		rs5017200	0.746805	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	BCAT1(dist=6679),C12orf77(dist=37293)	BCAT1(dist=6679),C12orf77(dist=37293)	ENSG00000255921	Na	Na	Na	Na	Na	Na	Het;C>T	54;4|5	Hom;C>T	125;0|7
N	N	-	12	25170372	25170372	C	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000258879																		rs11836239	0.173123	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	C12orf77(dist=19999),LRMP(dist=34809)	C12orf77(dist=19919),LRMP(dist=34809)	ENSG00000258879	Na	Na	Na	Na	Na	Na	Het;C>T	331;11|13	Hom;C>T	186;0|7
N	N	-	12	25706134	25706134	G	A	snp	UTR5	-241C>T	 	 	 	IFLTD1	 																	rs829047	0.61881	0	0	1	0	0	UTR5	UTR5	UTR5	LMNTD1(NM_152590:c.-106C>T,NM_001145728:c.-241C>T,NM_001256266:c.-6690C>T,NM_001145729:c.-241C>T)	IFLTD1(uc010sji.1:c.-241C>T,uc001rgs.2:c.-106C>T,uc001rgt.2:c.-6690C>T,uc009zjc.2:c.-241C>T)	ENSG00000152936(ENST00000282881:c.-106C>T,ENST00000539744:c.-6690C>T,ENST00000458174:c.-241C>T,ENST00000413632:c.-241C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	91;8|4	Hom;G>A	528;0|16
N	N	-	12	26777379	26777379	T	C	snp	ncRNA_intronic	 	 	 	 	AC023051.1																		rs2880875	0.698882	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ITPR2	ITPR2	ENSG00000234428	Na	Na	Na	Na	Na	Na	Het;T>C	58;7|4	Hom;T>C	659;0|19
N	N	-	12	26784850	26784850	G	A	snp	synonymous SNV	C2883T	H961H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ITPR2	Itpr2	ENSG00000123104	inositol 1,4,5-trisphosphate receptor type 2	chr12:26490342-26986131	The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]	Insulin; Bipolar Disorder; Type 2 Diabetes| edema | rosiglitazone; ALS; Amyotrophic lateral sclerosis; Heart Rate; blood pressure; bronchodilator response; Attention Deficit Disorder with Hyperactivity; Amyotrophic Lateral Sclerosis; smoking cessation; Cholesterol; Tobacco Use Disorder	Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0030168;platelet activation;TAS|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071361;cellular response to ethanol;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0033017;sarcoplasmic reticulum membrane;IMP|GO:0043235;receptor complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;IEA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITPR2	https://www.uniprot.org/uniprot/Q14571	https://hpo.jax.org/app/browse/search?q=ITPR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600144	http://www.informatics.jax.org/searchtool/Search.do?query=ITPR2&submit=Quick%0D%5484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR2	rs2230372	0.492812	0.5214	0.4856	1	0	0	exonic	exonic	exonic	ITPR2	ITPR2	ENSG00000123104	synonymous SNV	synonymous SNV	unknown	ITPR2:NM_002223:exon22:c.C2883T:p.H961H,	ITPR2:uc001rhg.3:exon22:c.C2883T:p.H961H,	UNKNOWN	Het;G>A	1127;56|57	Hom;G>A	2666;0|104
N	N	-	12	2705356	2705356	A	G	snp	intronic	 	 	 	 	CACNA1C	Cacna1c	ENSG00000151067	calcium voltage-gated channel subunit alpha1 C	chr12:2079952-2802108	This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism	Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance.  Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination.	Phase 2 - plateau phase	GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C	https://www.uniprot.org/uniprot/Q13936	https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114205	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C	rs215981	0.310703	0	0	1	0	0	intronic	intronic	intronic	CACNA1C	CACNA1C	ENSG00000151067	Na	Na	Na	Na	Na	Na	Het;A>G	136;8|5	Hom;A>G	345;0|9
N	N	-	12	27059149	27059149	C	T	snp	intronic	 	 	 	 	ASUN	Asun																	rs1488053	0.682308	0	0	1	0	0	intronic	intronic	intronic	ASUN	ASUN	ENSG00000064102	Na	Na	Na	Na	Na	Na	Het;C>T	61;3|3	Hom;C>T	263;0|10
N	N	-	12	27059224	27059224	G	A	snp	intronic	 	 	 	 	ASUN	Asun																	rs1488052	0.900359	0.8207	0.8202	1	0	0	intronic	intronic	intronic	ASUN	ASUN	ENSG00000064102	Na	Na	Na	Na	Na	Na	Het;G>A	546;20|25	Hom;G>A	1481;1|53
N	N	-	12	27059422	27059422	T	C	snp	intronic	 	 	 	 	ASUN	Asun																	rs1488051	0.682308	0.6281	0.6454	1	0	0	intronic	intronic	intronic	ASUN	ASUN	ENSG00000064102	Na	Na	Na	Na	Na	Na	Het;T>C	327;35|18	Hom;T>C	1686;0|57
N	N	-	12	27081566	27081566	C	G	snp	intronic	 	 	 	 	ASUN	Asun																	rs2029309	0.897165	0	0	1	0	0	intronic	intronic	intronic	ASUN	ASUN	ENSG00000064102	Na	Na	Na	Na	Na	Na	Het;C>G	171;17|9	Hom;C>G	1001;0|31
N	N	-	12	2716018	2716018	C	T	snp	ncRNA_intronic	 	 	 	 	CACNA1C-AS3																		rs123263	0.254193	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CACNA1C	CACNA1C	ENSG00000256769	Na	Na	Na	Na	Na	Na	Het;C>T	131;1|5	Hom;C>T	406;0|14
N	N	-	12	2720988	2720988	T	C	snp	intronic	 	 	 	 	CACNA1C	Cacna1c	ENSG00000151067	calcium voltage-gated channel subunit alpha1 C	chr12:2079952-2802108	This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism	Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance.  Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination.	Phase 2 - plateau phase	GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C	https://www.uniprot.org/uniprot/Q13936	https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114205	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C	rs216007	0.261781	0	0	1	0	0	intronic	intronic	intronic	CACNA1C	CACNA1C	ENSG00000151067	Na	Na	Na	Na	Na	Na	Het;T>C	320;14|14	Hom;T>C	605;0|23
N	N	-	12	2721137	2721137	C	T	snp	synonymous SNV	C3786T	F1262F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CACNA1C	Cacna1c	ENSG00000151067	calcium voltage-gated channel subunit alpha1 C	chr12:2079952-2802108	This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism	Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance.  Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination.	Phase 2 - plateau phase	GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C	https://www.uniprot.org/uniprot/Q13936	https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114205	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C	rs216008	0.259185	0	0.2095	1	0	0	exonic	exonic	exonic	CACNA1C	CACNA1C	ENSG00000151067	synonymous SNV	synonymous SNV	unknown	CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,	CACNA1C:uc001qku.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkn.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc009zdu.1:exon30:c.C3846T:p.F1282F,CACNA1C:uc001qjz.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkf.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkd.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkj.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkp.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkg.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qke.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkb.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkh.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkt.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qks.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc009zdw.1:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkk.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qko.2:exon30:c.C3846T:p.F1282F,CACNA1C:uc001qkm.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc009zdv.1:exon29:c.C3777T:p.F1259F,CACNA1C:uc001qkr.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkc.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qka.1:exon25:c.C2391T:p.F797F,CACNA1C:uc001qki.1:exon27:c.C2994T:p.F998F,CACNA1C:uc001qkq.2:exon29:c.C3786T:p.F1262F,CACNA1C:uc001qkl.2:exon30:c.C3846T:p.F1282F,	UNKNOWN	Het;C>T	682;48|35	Hom;C>T	1260;1|52
N	N	-	12	27800576	27800576	C	CT	indel	intronic	 	 	 	 	PPFIBP1	Ppfibp1	ENSG00000110841	PPFIA binding protein 1	chr12:27676364-27848497	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Body Mass Index; Cholesterol, LDL; Tobacco Use Disorder	 	Receptor-type tyrosine-protein phosphatases	GO:0007155;cell adhesion;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA	GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPFIBP1	https://www.uniprot.org/uniprot/Q86W92		https://www.ncbi.nlm.nih.gov/omim/?term=603141	http://www.informatics.jax.org/searchtool/Search.do?query=PPFIBP1&submit=Quick%0D%3996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIBP1	rs34792131	0	0	0	1	0	0	intronic	intronic	intronic	PPFIBP1	PPFIBP1	ENSG00000110841	Na	Na	Na	Na	Na	Na	Het;+T	308;3|14	Hom;+T	707;0|25
N	N	-	12	27807906	27807906	G	A	snp	intronic	 	 	 	 	PPFIBP1	Ppfibp1	ENSG00000110841	PPFIA binding protein 1	chr12:27676364-27848497	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Body Mass Index; Cholesterol, LDL; Tobacco Use Disorder	 	Receptor-type tyrosine-protein phosphatases	GO:0007155;cell adhesion;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA	GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPFIBP1	https://www.uniprot.org/uniprot/Q86W92		https://www.ncbi.nlm.nih.gov/omim/?term=603141	http://www.informatics.jax.org/searchtool/Search.do?query=PPFIBP1&submit=Quick%0D%3996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIBP1	rs7979973	0.855032	0	0	1	0	0	intronic	intronic	intronic	PPFIBP1	PPFIBP1	ENSG00000110841	Na	Na	Na	Na	Na	Na	Het;G>A	98;1|4	Hom;G>A	99;0|4
N	N	-	12	27863693	27863693	C	T	snp	ncRNA_exonic	 	 	 	 	AC009509.1																		rs17552080	0.159744	0	0	1	0	0	upstream	upstream	ncRNA_exonic	MRPS35	MRPS35	ENSG00000256377	Na	Na	Na	Na	Na	Na	Het;C>T	223;9|11	Hom;C>T	557;1|18
N	N	-	12	27944858	27944858	G	A	snp	UTR3	*16G>A	 	 	 	KLHL42	Klhl42	ENSG00000087448	kelch like family member 42	chr12:27932953-27955973		Glucose; Alcoholism	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;IDA|GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032886;regulation of microtubule-based process;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KLHL42	https://www.uniprot.org/uniprot/Q9P2K6			http://www.informatics.jax.org/searchtool/Search.do?query=KLHL42&submit=Quick%0D%1973ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL42	rs2288232	0.329073	0.4182	0.4779	1	0	0	intronic	intronic	UTR3	KLHL42	KLHL42	ENSG00000087448(ENST00000543254:c.*16G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	528;36|25	Hom;G>A	1687;0|63
N	N	-	12	28487765	28487765	C	T	snp	intronic	 	 	 	 	CCDC91	Ccdc91	ENSG00000123106	coiled-coil domain containing 91	chr12:28286182-28732883		Alcohol Drinking; Echocardiography; Respiratory Function Tests; Tobacco Use Disorder; Disease; Body Height	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0090160;Golgi to lysosome transport;IMP	GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC91	https://www.uniprot.org/uniprot/Q7Z6B0		https://www.ncbi.nlm.nih.gov/omim/?term=617366	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC91&submit=Quick%0D%5485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC91	rs7294553	0.401158	0	0	1	0	0	intronic	intronic	intronic	CCDC91	CCDC91	ENSG00000123106	Na	Na	Na	Na	Na	Na	Het;C>T	59;8|4	Hom;C>T	95;0|4
N	N	-	12	28669202	28669202	A	G	snp	intronic	 	 	 	 	CCDC91	Ccdc91	ENSG00000123106	coiled-coil domain containing 91	chr12:28286182-28732883		Alcohol Drinking; Echocardiography; Respiratory Function Tests; Tobacco Use Disorder; Disease; Body Height	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0090160;Golgi to lysosome transport;IMP	GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC91	https://www.uniprot.org/uniprot/Q7Z6B0		https://www.ncbi.nlm.nih.gov/omim/?term=617366	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC91&submit=Quick%0D%5485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC91	rs12302861	0.376597	0	0	1	0	0	intronic	intronic	intronic	CCDC91	CCDC91	ENSG00000123106	Na	Na	Na	Na	Na	Na	Het;A>G	922;42|44	Hom;A>G	3053;0|111
N	N	-	12	29049837	29049837	T	A	snp	intergenic	 	 	 	 	AC022081.1																		rs10843271	0.417532	0	0	1	0	0	intergenic	intergenic	intergenic	CCDC91(dist=346738),FAR2(dist=252099)	CCDC91(dist=346738),FAR2(dist=252099)	ENSG00000256513(dist=71073),ENSG00000222481(dist=223879)	Na	Na	Na	Na	Na	Na	Het;T>A	121;7|5	Hom;T>A	276;0|8
N	N	-	12	29251764	29251764	G	A	snp	intergenic	 	 	 	 	AC022081.1																		rs7953709	0.315495	0	0	1	0	0	intergenic	intergenic	intergenic	CCDC91(dist=548665),FAR2(dist=50172)	CCDC91(dist=548665),FAR2(dist=50172)	ENSG00000256513(dist=273000),ENSG00000222481(dist=21952)	Na	Na	Na	Na	Na	Na	Het;G>A	101;7|6	Hom;G>A	196;0|7
N	N	-	12	30236779	30236779	T	A	snp	intergenic	 	 	 	 	ENSG00000253052																		rs1040276	0.197484	0	0	1	0	0	intergenic	intergenic	intergenic	TMTC1(dist=299087),IPO8(dist=545136)	TMTC1(dist=299087),IPO8(dist=545136)	ENSG00000253052(dist=183839),ENSG00000257262(dist=117137)	Na	Na	Na	Na	Na	Na	Het;T>A	109;6|5	Hom;T>A	372;0|12
N	N	-	12	3076775	3076775	A	C	snp	intronic	 	 	 	 	TEAD4	Tead4	ENSG00000197905	TEA domain transcription factor 4	chr12:3068496-3149839	This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele die prior to somitogenesis, lack trophoblast stem cells and develop abnormally.	RUNX3 regulates YAP1-mediated transcription	GO:0001501;skeletal system development;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007517;muscle organ development;TAS|GO:0035329;hippo signaling;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0048568;embryonic organ development;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TEAD4			https://www.ncbi.nlm.nih.gov/omim/?term=601714	http://www.informatics.jax.org/searchtool/Search.do?query=TEAD4&submit=Quick%0D%16751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEAD4	rs11062436	0.611222	0	0	1	0	0	intronic	intronic	intronic	TEAD4	TEAD4	ENSG00000197905	Na	Na	Na	Na	Na	Na	Het;A>C	255;17|14	Hom;A>C	1092;0|42
N	N	-	12	30952800	30952800	A	C	snp	ncRNA_intronic	 	 	 	 	LINC00941																		rs256656	0.330072	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00941	LINC00941	ENSG00000235884	Na	Na	Na	Na	Na	Na	Het;A>C	354;20|17	Hom;A>C	1069;0|37
N	N	-	12	31055548	31055548	C	T	snp	intergenic	 	 	 	 	AC010198.2																		rs11051149	0.126597	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00941(dist=99903),TSPAN11(dist=24290)	LINC00941(dist=99903),TSPAN11(dist=23814)	ENSG00000258118(dist=40435),ENSG00000110900(dist=23814)	Na	Na	Na	Na	Na	Na	Het;C>T	149;1|7	Hom;C>T	181;0|6
N	N	-	12	31173836	31173836	A	G	snp	ncRNA_exonic	 	 	 	 	DDX11-AS1																		rs35039	0.509385	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DDX11-AS1	DDX11-AS1	ENSG00000245614	Na	Na	Na	Na	Na	Na	Het;A>G	1770;74|82	Hom;A>G	3604;0|135
N	N	-	12	31273475	31273475	A	C	snp	ncRNA_intronic	 	 	 	 	DKFZp434C0631																		rs11051254	0	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	DDX11(dist=15750),FAM60A(dist=160045)	DKFZp434C0631	ENSG00000177359	Na	Na	Na	Na	Na	Na	Het;A>C	82;2|5	Hom;A>C	161;0|7
N	N	-	12	31371702	31371702	T	C	snp	intergenic	 	 	 	 	AC024940.1		ENSG00000177359		chr12:31477250-31478879					GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA	GO:0004866;endopeptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1				http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1	rs11051328	0.708466	0	0	1	0	0	intergenic	intergenic	intergenic	DDX11(dist=113977),FAM60A(dist=61818)	OVOS2(dist=12614),hsa-miR-3194-3p(dist=7556)	ENSG00000177359(dist=12614),ENSG00000270766(dist=25672)	Na	Na	Na	Na	Na	Na	Het;T>C	38;2|2	Hom;T>C	393;1|18
N	N	-	12	32408220	32408220	A	C	snp	intronic	 	 	 	 	BICD1	Bicd1	ENSG00000151746	BICD cargo adaptor 1	chr12:32259769-32536567	This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Emphysema; Pancreatic Neoplasms; Tobacco Use Disorder; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Multiple Sclerosis; Forced Expiratory Volume; normalized brain volume, multiple sclerosis; Body Weight; pancreatic neoplasm|Pancreatic Neoplasms; Arthritis, Rheumatoid; prostate cancer	 	COPI-independent Golgi-to-ER retrograde traffic	GO:0006396;RNA processing;TAS|GO:0006810;transport;IEA|GO:0008298;intracellular mRNA localization;NAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016032;viral process;IMP|GO:0033365;protein localization to organelle;IDA|GO:0034063;stress granule assembly;ISS|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0072385;minus-end-directed organelle transport along microtubule;IMP|GO:0072393;microtubule anchoring at microtubule organizing center;ISS|GO:1900275;negative regulation of phospholipase C activity;ISS|GO:1900276;regulation of proteinase activated receptor activity;ISS|GO:1900737;negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway;ISS	GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0045298;tubulin complex;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0072517;host cell viral assembly compartment;IDA	GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008093;cytoskeletal adaptor activity;IDA|GO:0017137;Rab GTPase binding;IPI|GO:0031871;proteinase activated receptor binding;ISS|GO:0034452;dynactin binding;IDA|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BICD1	https://www.uniprot.org/uniprot/Q96G01		https://www.ncbi.nlm.nih.gov/omim/?term=602204	http://www.informatics.jax.org/searchtool/Search.do?query=BICD1&submit=Quick%0D%9467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BICD1	rs2728801	0.677716	0	0	1	0	0	intronic	intronic	intronic	BICD1	BICD1	ENSG00000151746	Na	Na	Na	Na	Na	Na	Het;A>C	733;42|38	Hom;A>C	2080;0|73
N	N	-	12	32446835	32446835	G	A	snp	intronic	 	 	 	 	BICD1	Bicd1	ENSG00000151746	BICD cargo adaptor 1	chr12:32259769-32536567	This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Emphysema; Pancreatic Neoplasms; Tobacco Use Disorder; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Multiple Sclerosis; Forced Expiratory Volume; normalized brain volume, multiple sclerosis; Body Weight; pancreatic neoplasm|Pancreatic Neoplasms; Arthritis, Rheumatoid; prostate cancer	 	COPI-independent Golgi-to-ER retrograde traffic	GO:0006396;RNA processing;TAS|GO:0006810;transport;IEA|GO:0008298;intracellular mRNA localization;NAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016032;viral process;IMP|GO:0033365;protein localization to organelle;IDA|GO:0034063;stress granule assembly;ISS|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0072385;minus-end-directed organelle transport along microtubule;IMP|GO:0072393;microtubule anchoring at microtubule organizing center;ISS|GO:1900275;negative regulation of phospholipase C activity;ISS|GO:1900276;regulation of proteinase activated receptor activity;ISS|GO:1900737;negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway;ISS	GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0045298;tubulin complex;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0072517;host cell viral assembly compartment;IDA	GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008093;cytoskeletal adaptor activity;IDA|GO:0017137;Rab GTPase binding;IPI|GO:0031871;proteinase activated receptor binding;ISS|GO:0034452;dynactin binding;IDA|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BICD1	https://www.uniprot.org/uniprot/Q96G01		https://www.ncbi.nlm.nih.gov/omim/?term=602204	http://www.informatics.jax.org/searchtool/Search.do?query=BICD1&submit=Quick%0D%9467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BICD1	rs261877	0.701877	0	0	1	0	0	intronic	intronic	intronic	BICD1	BICD1	ENSG00000151746	Na	Na	Na	Na	Na	Na	Het;G>A	183;14|9	Hom;G>A	388;0|15
N	N	-	12	32639156	32639156	C	A	snp	intronic	 	 	 	 	FGD4	Fgd4	ENSG00000139132	FYVE, RhoGEF and PH domain containing 4	chr12:32552463-32798984	This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]	Tobacco Use Disorder; Albuminuria; Triglycerides; Body Height; Lipoproteins, VLDL; Stroke; Body Mass Index	Mice homozygous for a knock-out allele display dysmyelination in early peripheral nerve development, followed by severe myelin abnormalities, demyelinationn, nervous system electrophysiological deficits, and decreased grip strength at later stages.	G alpha (12/13) signalling events	GO:0007010;cytoskeleton organization;ISS|GO:0008360;regulation of cell shape;ISS|GO:0030032;lamellipodium assembly;IEA|GO:0030035;microspike assembly;IEA|GO:0030036;actin cytoskeleton organization;ISS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046847;filopodium assembly;ISS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;ISS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0031267;small GTPase binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FGD4	https://www.uniprot.org/uniprot/Q96M96	https://hpo.jax.org/app/browse/search?q=FGD4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611104	http://www.informatics.jax.org/searchtool/Search.do?query=FGD4&submit=Quick%0D%7831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGD4	rs6488061	0.61222	0	0	1	0	0	intronic	intronic	intronic	FGD4	FGD4	ENSG00000139132	Na	Na	Na	Na	Na	Na	Het;C>A	668;34|33	Hom;C>A	2118;0|74
N	N	-	12	32974245	32974245	C	T	snp	intronic	 	 	 	 	PKP2	Pkp2	ENSG00000057294	plakophilin 2	chr12:32943679-33049774	This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]	null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy	Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum.	Formation of the cornified envelope	GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS	GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA	GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC	http://www.genecards.org/index.php?path=/Search/keyword/PKP2	https://www.uniprot.org/uniprot/Q99959	https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602861	http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2	rs10772008	0.591653	0.7665	0.7127	1	0	0	intronic	intronic	intronic	PKP2	PKP2	ENSG00000057294	Na	Na	Na	Na	Na	Na	Het;C>T	648;57|34	Hom;C>T	2453;0|91
N	N	-	12	33249804	33249804	T	C	snp	intergenic	 	 	 	 	ENSG00000238911																		rs1392332	0.727835	0	0	1	0	0	intergenic	intergenic	intergenic	PKP2(dist=200024),SYT10(dist=278544)	PKP2(dist=200024),SYT10(dist=278544)	ENSG00000238911(dist=55049),ENSG00000251863(dist=265714)	Na	Na	Na	Na	Na	Na	Het;T>C	448;25|23	Hom;T>C	932;0|36
N	N	-	12	3348958	3348958	A	G	snp	intronic	 	 	 	 	TSPAN9	Tspan9	ENSG00000011105	tetraspanin 9	chr12:3186521-3395730	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]	Type 2 diabetes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Alzheimer's disease ; hypertension	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0008150;biological_process;ND	GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0097197;tetraspanin-enriched microdomain;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN9	https://www.uniprot.org/uniprot/O75954		https://www.ncbi.nlm.nih.gov/omim/?term=613137	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN9&submit=Quick%0D%542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN9	rs11062589	0.379393	0	0	1	0	0	intronic	intronic	intronic	TSPAN9	TSPAN9	ENSG00000011105	Na	Na	Na	Na	Na	Na	Het;A>G	176;13|8	Hom;A>G	453;0|16
N	N	-	12	33535510	33535510	T	G	snp	intronic	 	 	 	 	SYT10	Syt10	ENSG00000110975	synaptotagmin 10	chr12:33527173-33592754			Mice homozygous for a knock-in allele exhibit minor circadian rhythm impairments.	Neurexins and neuroligins	GO:0006887;exocytosis;IEA|GO:0006906;vesicle fusion;IBA|GO:0007268;chemical synaptic transmission;IEA|GO:0007608;sensory perception of smell;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0070382;exocytic vesicle;IEA|GO:0098793;presynapse;IEA	GO:0000149;SNARE binding;IEA|GO:0001786;phosphatidylserine binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SYT10	https://www.uniprot.org/uniprot/Q6XYQ8			http://www.informatics.jax.org/searchtool/Search.do?query=SYT10&submit=Quick%0D%4018ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT10	rs74075211	0.264776	0	0	1	0	0	intronic	intronic	intronic	SYT10	SYT10	ENSG00000110975	Na	Na	Na	Na	Na	Na	Het;T>G	696;15|30	Hom;T>G	1309;0|43
N	N	-	12	347068	347068	T	A	snp	intronic	 	 	 	 	SLC6A13	Slc6a13	ENSG00000010379	solute carrier family 6 member 13	chr12:329789-372039		alcohol consumption; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Psychiatric Disorders; Tobacco Use Disorder; several psychiatric disorders; Creatinine; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit reduced taurine levels in the liver and increased taurine levels in the brain.	Reuptake of GABA	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0015812;gamma-aminobutyric acid transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005332;gamma-aminobutyric acid:sodium symporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A13	https://www.uniprot.org/uniprot/Q9NSD5		https://www.ncbi.nlm.nih.gov/omim/?term=615097	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A13&submit=Quick%0D%524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A13	rs2289957	0.252995	0.4024	0.4151	1	0	0	intronic	intronic	intronic	SLC6A13	SLC6A13	ENSG00000010379	Na	Na	Na	Na	Na	Na	Het;T>A	438;21|22	Hom;T>A	1055;0|39
N	N	-	12	351711	351711	T	G	snp	intronic	 	 	 	 	SLC6A13	Slc6a13	ENSG00000010379	solute carrier family 6 member 13	chr12:329789-372039		alcohol consumption; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Psychiatric Disorders; Tobacco Use Disorder; several psychiatric disorders; Creatinine; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit reduced taurine levels in the liver and increased taurine levels in the brain.	Reuptake of GABA	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0015812;gamma-aminobutyric acid transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005332;gamma-aminobutyric acid:sodium symporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A13	https://www.uniprot.org/uniprot/Q9NSD5		https://www.ncbi.nlm.nih.gov/omim/?term=615097	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A13&submit=Quick%0D%524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A13	rs525797	0.75	0	0	1	0	0	intronic	intronic	intronic	SLC6A13	SLC6A13	ENSG00000010379	Na	Na	Na	Na	Na	Na	Het;T>G	1000;30|41	Hom;T>G	1353;0|48
N	N	-	12	3563730	3563730	C	G	snp	intronic	 	 	 	 	PRMT8	Prmt8	ENSG00000111218	protein arginine methyltransferase 8	chr12:3490515-3703139	Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]	HDL cholesterol; Cell Adhesion Molecules; Coronary Disease|; Tobacco Use Disorder	Mice homozygous for a knockout allele exhibit abnormal Purkinje cell dendrite morphology, hyperactivity, limb grasping and gait abnormalities, and show reduced levels of acetylcholine and choline along with increased phosphatidylcholine levels in the cerebellum.		GO:0006479;protein methylation;IEA|GO:0016571;histone methylation;IDA|GO:0018216;peptidyl-arginine methylation;IDA|GO:0019919;peptidyl-arginine methylation, to asymmetrical-dimethyl arginine;IDA|GO:0032259;methylation;IEA|GO:0034969;histone arginine methylation;IEA|GO:0043393;regulation of protein binding;TAS	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008469;histone-arginine N-methyltransferase activity;IDA|GO:0008757;S-adenosylmethionine-dependent methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0035241;protein-arginine omega-N monomethyltransferase activity;IDA|GO:0035242;protein-arginine omega-N asymmetric methyltransferase activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRMT8	https://www.uniprot.org/uniprot/Q9NR22		https://www.ncbi.nlm.nih.gov/omim/?term=610086	http://www.informatics.jax.org/searchtool/Search.do?query=PRMT8&submit=Quick%0D%4040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRMT8	rs4766123	0.177716	0	0	1	0	0	intronic	intronic	intronic	PRMT8	PRMT8	ENSG00000111218	Na	Na	Na	Na	Na	Na	Het;C>G	85;1|3	Hom;C>G	69;0|4
N	N	-	12	3757548	3757548	T	C	snp	UTR3	*90A>G	 	 	 	CRACR2A	Cracr2a																	rs887304	0.859425	0	0	1	0	0	UTR3	UTR3	UTR3	CRACR2A(NM_032680:c.*90A>G)	EFCAB4B(uc001qmj.2:c.*90A>G)	ENSG00000130038(ENST00000333750:c.*90A>G,ENST00000252322:c.*90A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	486;35|20	Hom;T>C	1251;0|40
N	N	-	12	38594529	38594529	G	C	snp	upstream	 	 	 	 	TUBB8P5																		rs10880697	0.135583	0	0	1	0	0	intergenic	intergenic	upstream	NONE(dist=NONE),ALG10B(dist=116028)	NONE(dist=NONE),ALG10B(dist=116028)	ENSG00000254381	Na	Na	Na	Na	Na	Na	Het;G>C	172;1|7	Hom;G>C	153;0|6
N	N	-	12	39233771	39233771	A	G	snp	intronic	 	 	 	 	CPNE8	Cpne8	ENSG00000139117	copine 8	chr12:39040624-39301232	Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]	Cholesterol; Lipoprotein(a); Waist-Hip Ratio; Blood Pressure	 		GO:0008150;biological_process;ND	GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/CPNE8	https://www.uniprot.org/uniprot/Q86YQ8			http://www.informatics.jax.org/searchtool/Search.do?query=CPNE8&submit=Quick%0D%7829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE8	rs3803020	0.303914	0.3729	0.4528	1	0	0	intronic	intronic	intronic	CPNE8	CPNE8	ENSG00000139117	Na	Na	Na	Na	Na	Na	Het;A>G	448;24|21	Hom;A>G	1641;0|62
N	N	-	12	39549441	39549447	CATATAT	C	indel	intergenic	 	 	 	 	LINC02406																		rs147670815	0	0	0	1	0	0	intergenic	intergenic	intergenic	CPNE8(dist=250021),KIF21A(dist=137583)	CPNE8(dist=250021),KIF21A(dist=137583)	ENSG00000258144(dist=62765),ENSG00000270718(dist=15001)	Na	Na	Na	Na	Na	Na	Het;-ATATAT	104;1|4	Hom;-ATATAT	503;0|12
N	N	-	12	40301611	40301611	C	T	snp	UTR3	*1174C>T	 	 	 	C12orf40	CN725425	ENSG00000180116	chromosome 12 open reading frame 40	chr12:40019969-40302102			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C12orf40				http://www.informatics.jax.org/searchtool/Search.do?query=C12orf40&submit=Quick%0D%14437ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf40	rs11174235	0.329673	0	0	1	0	0	intronic	intronic	UTR3	SLC2A13	SLC2A13	ENSG00000180116(ENST00000468200:c.*1174C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1275;77|61	Hom;C>T	3366;0|114
N	N	-	12	40703087	40703087	C	CGT	indel	intronic	 	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs10650388	0	0	0.5069	1	0	0	intronic	intronic	intronic	LRRK2	LRRK2	ENSG00000188906	Na	Na	Na	Na	Na	Na	Het;+GT	560;5|19	Hom;+GT	928;1|28
N	N	-	12	40748395	40748395	G	A	snp	intronic	 	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs890575	0.703075	0	0	1	0	0	intronic	intronic	intronic	LRRK2	LRRK2	ENSG00000188906	Na	Na	Na	Na	Na	Na	Het;G>A	234;6|10	Hom;G>A	785;0|26
N	N	-	12	40753044	40753044	C	CT	indel	intronic	 	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs111612315	0.592252	0.6696	0.6216	1	0	0	intronic	intronic	intronic	LRRK2	LRRK2	ENSG00000188906	Na	Na	Na	Na	Na	Na	Het;+T	425;27|24	Hom;+T	1376;6|58
N	N	-	12	40753303	40753303	A	G	snp	intronic	 	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs3789330	0.703275	0	0	1	0	0	intronic	intronic	intronic	LRRK2	LRRK2	ENSG00000188906	Na	Na	Na	Na	Na	Na	Het;A>G	285;10|12	Hom;A>G	567;0|19
N	N	-	12	40757186	40757187	AT	A	indel	intronic	 	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs11317573	0.551318	0	0.6319	1	0	0	intronic	intronic	intronic	LRRK2	LRRK2	ENSG00000188906	Na	Na	Na	Na	Na	Na	Het;-T	543;37|30	Hom;-T	1208;0|48
N	N	-	12	40757533	40757533	A	G	snp	intronic	 	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs7134408	0.550919	0	0	1	0	0	intronic	intronic	intronic	LRRK2	LRRK2	ENSG00000188906	Na	Na	Na	Na	Na	Na	Het;A>G	37;5|3	Hom;A>G	201;0|6
N	N	-	12	40758652	40758652	T	C	snp	nonsynonymous SNV	T7190C	M2397T	hydrophobic,neutral	polar,hydrophilic,neutral	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs3761863	0.551717	0.6123	0.6240	0.23	3	13	exonic	exonic	exonic	LRRK2	LRRK2	ENSG00000188906	nonsynonymous SNV	nonsynonymous SNV	unknown	LRRK2:NM_198578:exon49:c.T7190C:p.M2397T,	LRRK2:uc009zjw.3:exon28:c.T3704C:p.M1235T,LRRK2:uc001rmg.4:exon49:c.T7190C:p.M2397T,LRRK2:uc001rmi.3:exon24:c.T3689C:p.M1230T,	UNKNOWN	Het;T>C	920;49|44	Hom;T>C	2933;1|105
N	N	-	12	40761931	40761931	A	C	snp	UTR3	*364A>C	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs10878441	0.551318	0	0	1	0	0	UTR3	UTR3	UTR3	LRRK2(NM_198578:c.*364A>C)	LRRK2(uc001rmg.4:c.*364A>C,uc009zjw.3:c.*364A>C,uc001rmi.3:c.*2996A>C)	ENSG00000188906(ENST00000298910:c.*364A>C,ENST00000430804:c.*4621A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	1079;27|29	Hom;A>C	2041;0|47
N	N	-	12	40761951	40761951	C	T	snp	UTR3	*384C>T	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs3886747	0.551518	0	0	1	0	0	UTR3	UTR3	UTR3	LRRK2(NM_198578:c.*384C>T)	LRRK2(uc001rmg.4:c.*384C>T,uc009zjw.3:c.*384C>T,uc001rmi.3:c.*3016C>T)	ENSG00000188906(ENST00000298910:c.*384C>T,ENST00000430804:c.*4641C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1157;32|31	Hom;C>T	2553;0|66
N	N	-	12	40762303	40762303	G	C	snp	UTR3	*736G>C	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs1365770	0.551318	0	0	1	0	0	UTR3	UTR3	UTR3	LRRK2(NM_198578:c.*736G>C)	LRRK2(uc001rmg.4:c.*736G>C,uc009zjw.3:c.*736G>C,uc001rmi.3:c.*3368G>C)	ENSG00000188906(ENST00000298910:c.*736G>C,ENST00000430804:c.*4993G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	424;15|22	Hom;G>C	1019;0|36
N	N	-	12	40762546	40762546	T	C	snp	UTR3	*979T>C	 	 	 	LRRK2	Lrrk2	ENSG00000188906	leucine rich repeat kinase 2	chr12:40590546-40763087	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]	Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease 	Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole.  Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.	PTK6 promotes HIF1A stabilization	GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA	GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRK2		https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609007	http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2	rs10784548	0.551318	0	0	1	0	0	UTR3	UTR3	UTR3	LRRK2(NM_198578:c.*979T>C)	LRRK2(uc001rmg.4:c.*979T>C,uc009zjw.3:c.*979T>C,uc001rmi.3:c.*3611T>C)	ENSG00000188906(ENST00000298910:c.*979T>C,ENST00000430804:c.*5236T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	533;11|21	Hom;T>C	935;0|32
N	N	-	12	40787385	40787385	C	A	snp	intronic	 	 	 	 	MUC19	 																	rs7968721	0.589856	0	0	1	0	0	intronic	intronic	intronic	MUC19	MUC19	ENSG00000205592	Na	Na	Na	Na	Na	Na	Het;C>A	123;1|6	Hom;C>A	289;0|10
N	N	-	12	41582590	41582590	G	C	snp	synonymous SNV	G333C	R111R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PDZRN4	Pdzrn4	ENSG00000165966	PDZ domain containing ring finger 4	chr12:41582250-41968392		Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine	 				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4			https://www.ncbi.nlm.nih.gov/omim/?term=609730	http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4	rs10879830	0.729233	0.7643	0.7858	1	0	0	exonic	exonic	exonic	PDZRN4	PDZRN4	ENSG00000165966	synonymous SNV	synonymous SNV	unknown	PDZRN4:NM_001164595:exon1:c.G333C:p.R111R,	PDZRN4:uc010skn.2:exon1:c.G333C:p.R111R,	UNKNOWN	Het;G>C	293;5|8	Hom;G>C	291;0|8
N	N	-	12	41582603	41582603	G	C	snp	nonsynonymous SNV	G346C	G116R	aliphatic,neutral	polar,hydrophilic,charged(+)	PDZRN4	Pdzrn4	ENSG00000165966	PDZ domain containing ring finger 4	chr12:41582250-41968392		Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine	 				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4			https://www.ncbi.nlm.nih.gov/omim/?term=609730	http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4	rs10879831	0.608626	0	0.7628	0.10	1	10	exonic	exonic	exonic	PDZRN4	PDZRN4	ENSG00000165966	nonsynonymous SNV	nonsynonymous SNV	unknown	PDZRN4:NM_001164595:exon1:c.G346C:p.G116R,	PDZRN4:uc010skn.2:exon1:c.G346C:p.G116R,	UNKNOWN	Het;G>C	293;5|8	Hom;G>C	291;0|6
N	N	-	12	41588124	41588124	A	G	snp	intronic	 	 	 	 	PDZRN4	Pdzrn4	ENSG00000165966	PDZ domain containing ring finger 4	chr12:41582250-41968392		Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine	 				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4			https://www.ncbi.nlm.nih.gov/omim/?term=609730	http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4	rs3847980	0.662141	0	0	1	0	0	intronic	intronic	intronic	PDZRN4	PDZRN4	ENSG00000165966	Na	Na	Na	Na	Na	Na	Het;A>G	360;11|15	Hom;A>G	694;0|21
N	N	-	12	41949370	41949370	T	G	snp	intronic	 	 	 	 	PDZRN4	Pdzrn4	ENSG00000165966	PDZ domain containing ring finger 4	chr12:41582250-41968392		Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine	 				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4			https://www.ncbi.nlm.nih.gov/omim/?term=609730	http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4	rs285580	0.666733	0	0	1	0	0	intronic	intronic	intronic	PDZRN4	PDZRN4	ENSG00000165966	Na	Na	Na	Na	Na	Na	Het;T>G	463;3|13	Hom;T>G	223;0|6
N	N	-	12	42707437	42707437	C	G	snp	intronic	 	 	 	 	ZCRB1	Zcrb1	ENSG00000139168	zinc finger CCHC-type and RNA binding motif containing 1	chr12:42705880-42719920	Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]		 	mRNA Splicing - Minor Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005689;U12-type spliceosomal complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IBA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZCRB1	https://www.uniprot.org/uniprot/Q8TBF4		https://www.ncbi.nlm.nih.gov/omim/?term=610750	http://www.informatics.jax.org/searchtool/Search.do?query=ZCRB1&submit=Quick%0D%7840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCRB1	rs3761677	0.234824	0.3077	0	1	0	0	intronic	intronic	intronic	ZCRB1	ZCRB1	ENSG00000134283,ENSG00000139168	Na	Na	Na	Na	Na	Na	Het;C>G	444;14|18	Hom;C>G	679;0|23
N	N	-	12	42718013	42718013	T	C	snp	intronic	 	 	 	 	ZCRB1	Zcrb1	ENSG00000139168	zinc finger CCHC-type and RNA binding motif containing 1	chr12:42705880-42719920	Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]		 	mRNA Splicing - Minor Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005689;U12-type spliceosomal complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IBA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZCRB1	https://www.uniprot.org/uniprot/Q8TBF4		https://www.ncbi.nlm.nih.gov/omim/?term=610750	http://www.informatics.jax.org/searchtool/Search.do?query=ZCRB1&submit=Quick%0D%7840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCRB1	rs3747558	0.605631	0	0	1	0	0	intronic	intronic	intronic	ZCRB1	ZCRB1	ENSG00000134283,ENSG00000139168	Na	Na	Na	Na	Na	Na	Het;T>C	33;2|2	Hom;T>C	210;0|7
N	N	-	12	42729891	42729891	T	G	snp	intronic	 	 	 	 	PPHLN1	Pphln1	ENSG00000134283	periphilin 1	chr12:42632249-42853517	The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Respiratory Function Tests	Mice homozygous for a gene trap allele die prior to E7.5.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0031424;keratinization;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPHLN1	https://www.uniprot.org/uniprot/Q8NEY8		https://www.ncbi.nlm.nih.gov/omim/?term=608150	http://www.informatics.jax.org/searchtool/Search.do?query=PPHLN1&submit=Quick%0D%6949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPHLN1	rs7296357	0.60623	0	0	1	0	0	intronic	intronic	intronic	PPHLN1	PPHLN1	ENSG00000134283	Na	Na	Na	Na	Na	Na	Het;T>G	209;1|8	Hom;T>G	304;0|9
N	N	-	12	42781178	42781178	A	T	snp	intronic	 	 	 	 	PPHLN1	Pphln1	ENSG00000134283	periphilin 1	chr12:42632249-42853517	The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Respiratory Function Tests	Mice homozygous for a gene trap allele die prior to E7.5.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0031424;keratinization;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPHLN1	https://www.uniprot.org/uniprot/Q8NEY8		https://www.ncbi.nlm.nih.gov/omim/?term=608150	http://www.informatics.jax.org/searchtool/Search.do?query=PPHLN1&submit=Quick%0D%6949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPHLN1	rs2243465	0.251398	0	0	1	0	0	intronic	intronic	intronic	PPHLN1	PPHLN1	ENSG00000134283	Na	Na	Na	Na	Na	Na	Het;A>T	292;26|13	Hom;A>T	759;0|23
N	N	-	12	42787579	42787579	A	G	snp	intronic	 	 	 	 	PPHLN1	Pphln1	ENSG00000134283	periphilin 1	chr12:42632249-42853517	The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Respiratory Function Tests	Mice homozygous for a gene trap allele die prior to E7.5.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0031424;keratinization;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPHLN1	https://www.uniprot.org/uniprot/Q8NEY8		https://www.ncbi.nlm.nih.gov/omim/?term=608150	http://www.informatics.jax.org/searchtool/Search.do?query=PPHLN1&submit=Quick%0D%6949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPHLN1	rs1376931	0.257987	0	0	1	0	0	intronic	intronic	intronic	PPHLN1	PPHLN1	ENSG00000134283	Na	Na	Na	Na	Na	Na	Het;A>G	377;16|18	Hom;A>G	494;0|16
N	N	-	12	42825887	42825887	C	G	snp	ncRNA_exonic	 	 	 	 	AC079601.2																		rs1669890	0.250599	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PPHLN1	PPHLN1	ENSG00000257376	Na	Na	Na	Na	Na	Na	Het;C>G	485;34|23	Hom;C>G	1666;0|59
N	N	-	12	42826359	42826359	G	A	snp	ncRNA_intronic	 	 	 	 	AC079601.2																		rs1796394	0.600439	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PPHLN1	PPHLN1	ENSG00000257376	Na	Na	Na	Na	Na	Na	Het;G>A	690;8|29	Hom;G>A	1156;0|42
N	N	-	12	42853350	42853350	A	G	snp	ncRNA_exonic	 	 	 	 	AC079601.1																		rs1043656	0.232228	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	PRICKLE1(NM_001144883:c.*261T>C,NM_001144881:c.*261T>C,NM_001144882:c.*261T>C,NM_153026:c.*261T>C)	PPHLN1(uc010sku.1:c.*182A>G),PRICKLE1(uc010skv.2:c.*261T>C,uc001rnl.3:c.*261T>C,uc010skw.2:c.*261T>C,uc001rnm.3:c.*261T>C)	ENSG00000257225	Na	Na	Na	Na	Na	Na	Het;A>G	218;21|11	Hom;A>G	736;0|26
N	N	-	12	42854205	42854205	A	G	snp	synonymous SNV	T1902C	S634S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRICKLE1	Prickle1	ENSG00000139174	prickle planar cell polarity protein 1	chr12:42852140-42984157	This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]	diabetes, type 2; kidney aging	Heterozygous null or point mutations result in decreased seizure threshold. Homozygous null mice display early embryonic lethality associated with altered epiblast apical-basal polarity, failed anterior migration of the distal visceral endoderm, and lackof mesoderm and primitive streak formation.	Asymmetric localization of PCP proteins	GO:0001843;neural tube closure;IMP|GO:0006606;protein import into nucleus;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0035904;aorta development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000691;negative regulation of cardiac muscle cell myoblast differentiation;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRICKLE1	https://www.uniprot.org/uniprot/Q96MT3	https://hpo.jax.org/app/browse/search?q=PRICKLE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608500	http://www.informatics.jax.org/searchtool/Search.do?query=PRICKLE1&submit=Quick%0D%7842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRICKLE1	rs3747562	0.429313	0.4353	0.4385	1	0	0	exonic	exonic	exonic	PRICKLE1	PRICKLE1	ENSG00000139174	synonymous SNV	synonymous SNV	unknown	PRICKLE1:NM_153026:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144881:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144882:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144883:exon8:c.T1902C:p.S634S,	PRICKLE1:uc001rnm.3:exon8:c.T1902C:p.S634S,PRICKLE1:uc001rnl.3:exon8:c.T1902C:p.S634S,PRICKLE1:uc010skv.2:exon8:c.T1902C:p.S634S,PRICKLE1:uc010skw.2:exon8:c.T1902C:p.S634S,	UNKNOWN	Het;A>G	1748;73|48	Hom;A>G	5698;2|128
N	N	-	12	42854208	42854208	A	G	snp	synonymous SNV	T1899C	F633F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	PRICKLE1	Prickle1	ENSG00000139174	prickle planar cell polarity protein 1	chr12:42852140-42984157	This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]	diabetes, type 2; kidney aging	Heterozygous null or point mutations result in decreased seizure threshold. Homozygous null mice display early embryonic lethality associated with altered epiblast apical-basal polarity, failed anterior migration of the distal visceral endoderm, and lackof mesoderm and primitive streak formation.	Asymmetric localization of PCP proteins	GO:0001843;neural tube closure;IMP|GO:0006606;protein import into nucleus;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0035904;aorta development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000691;negative regulation of cardiac muscle cell myoblast differentiation;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRICKLE1	https://www.uniprot.org/uniprot/Q96MT3	https://hpo.jax.org/app/browse/search?q=PRICKLE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608500	http://www.informatics.jax.org/searchtool/Search.do?query=PRICKLE1&submit=Quick%0D%7842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRICKLE1	rs3747563	0.270567	0.2999	0.3459	1	0	0	exonic	exonic	exonic	PRICKLE1	PRICKLE1	ENSG00000139174	synonymous SNV	synonymous SNV	unknown	PRICKLE1:NM_153026:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144881:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144882:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144883:exon8:c.T1899C:p.F633F,	PRICKLE1:uc001rnm.3:exon8:c.T1899C:p.F633F,PRICKLE1:uc001rnl.3:exon8:c.T1899C:p.F633F,PRICKLE1:uc010skv.2:exon8:c.T1899C:p.F633F,PRICKLE1:uc010skw.2:exon8:c.T1899C:p.F633F,	UNKNOWN	Het;A>G	1742;73|47	Hom;A>G	5698;2|132
N	N	-	12	42859961	42859961	A	G	snp	intronic	 	 	 	 	PRICKLE1	Prickle1	ENSG00000139174	prickle planar cell polarity protein 1	chr12:42852140-42984157	This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]	diabetes, type 2; kidney aging	Heterozygous null or point mutations result in decreased seizure threshold. Homozygous null mice display early embryonic lethality associated with altered epiblast apical-basal polarity, failed anterior migration of the distal visceral endoderm, and lackof mesoderm and primitive streak formation.	Asymmetric localization of PCP proteins	GO:0001843;neural tube closure;IMP|GO:0006606;protein import into nucleus;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0035904;aorta development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000691;negative regulation of cardiac muscle cell myoblast differentiation;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRICKLE1	https://www.uniprot.org/uniprot/Q96MT3	https://hpo.jax.org/app/browse/search?q=PRICKLE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608500	http://www.informatics.jax.org/searchtool/Search.do?query=PRICKLE1&submit=Quick%0D%7842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRICKLE1	rs12230583	0.269768	0.3312	0.3447	1	0	0	intronic	intronic	intronic	PRICKLE1	PRICKLE1	ENSG00000139174	Na	Na	Na	Na	Na	Na	Het;A>G	2489;107|111	Hom;A>G	5837;0|199
N	N	-	12	43110368	43110368	T	A	snp	ncRNA_exonic	 	 	 	 	LINC02450																		rs12306765	0.157348	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101927058(dist=70068),ADAMTS20(dist=637644)	PRICKLE1(dist=126796),ADAMTS20(dist=637644)	ENSG00000257114	Na	Na	Na	Na	Na	Na	Het;T>A	781;33|37	Hom;T>A	1034;1|39
N	N	-	12	45209723	45209723	A	G	snp	UTR3	*42T>C	 	 	 	NELL2	Nell2	ENSG00000184613	neural EGFL like 2	chr12:44902058-45315631	The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]	Tobacco Use Disorder	Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus.		GO:0070050;neuron cellular homeostasis;ISS	GO:0005576;extracellular region;IEA|GO:0005623;cell;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NELL2			https://www.ncbi.nlm.nih.gov/omim/?term=602320	http://www.informatics.jax.org/searchtool/Search.do?query=NELL2&submit=Quick%0D%15244ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL2	rs34034808	0.0632987	0.0980	0.0912	1	0	0	intronic	intronic	UTR3	NELL2	NELL2	ENSG00000184613(ENST00000548826:c.*42T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	841;37|35	Hom;A>G	2032;0|66
N	N	-	12	45417412	45417412	C	T	snp	intronic	 	 	 	 	DBX2	Dbx2	ENSG00000185610	developing brain homeobox 2	chr12:45408455-45444882		Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DBX2				http://www.informatics.jax.org/searchtool/Search.do?query=DBX2&submit=Quick%0D%15445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DBX2	rs35555451	0.0479233	0	0	1	0	0	intronic	intronic	intronic	DBX2	DBX2	ENSG00000185610	Na	Na	Na	Na	Na	Na	Het;C>T	309;9|11	Hom;C>T	568;0|18
N	N	-	12	45417722	45417722	A	T	snp	intronic	 	 	 	 	DBX2	Dbx2	ENSG00000185610	developing brain homeobox 2	chr12:45408455-45444882		Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DBX2				http://www.informatics.jax.org/searchtool/Search.do?query=DBX2&submit=Quick%0D%15445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DBX2	rs34073769	0.048123	0.0774	0.0906	1	0	0	intronic	intronic	intronic	DBX2	DBX2	ENSG00000185610	Na	Na	Na	Na	Na	Na	Het;A>T	559;27|26	Hom;A>T	946;0|33
N	N	-	12	4758188	4758188	G	C	snp	UTR5	-10826C>G	 	 	 	AKAP3	Akap3	ENSG00000111254	A-kinase anchoring protein 3	chr12:4724674-4758213	This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]		 		GO:0006928;movement of cell or subcellular component;TAS|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007338;single fertilization;TAS|GO:0007340;acrosome reaction;TAS|GO:0008104;protein localization;IEA|GO:0010738;regulation of protein kinase A signaling;IBA	GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031514;motile cilium;IEA|GO:0035686;sperm fibrous sheath;IBA|GO:0097228;sperm principal piece;IDA	GO:0005515;protein binding;IPI|GO:0051018;protein kinase A binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AKAP3	https://www.uniprot.org/uniprot/O75969		https://www.ncbi.nlm.nih.gov/omim/?term=604689	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP3&submit=Quick%0D%4050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP3	rs714621	0.40016	0	0	1	0	0	UTR5	UTR5	UTR5	AKAP3(NM_001278309:c.-10826C>G,NM_006422:c.-10826C>G)	AKAP3(uc031qfv.1:c.-10826C>G)	ENSG00000111254(ENST00000545990:c.-10826C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	294;5|12	Hom;G>C	399;0|14
N	N	-	12	4768437	4768437	C	T	snp	intronic	 	 	 	 	NDUFA9	Ndufa9	ENSG00000139180	NADH:ubiquinone oxidoreductase subunit A9	chr12:4758261-4798454	The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]	prostate cancer; Aging/ Telomere Length; drug-related genes ; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0006814;sodium ion transport;NAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA|GO:1901006;ubiquinone-6 biosynthetic process;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0031966;mitochondrial membrane;IDA|GO:0070469;respiratory chain;IEA	GO:0003824;catalytic activity;IEA|GO:0003954;NADH dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS|GO:0032403;protein complex binding;IDA|GO:0050662;coenzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA9	https://www.uniprot.org/uniprot/Q16795	https://hpo.jax.org/app/browse/search?q=NDUFA9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603834	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA9&submit=Quick%0D%7844ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA9	rs7958182	0.727835	0	0	1	0	0	intronic	intronic	intronic	NDUFA9	NDUFA9	ENSG00000139180,ENSG00000272921	Na	Na	Na	Na	Na	Na	Het;C>T	282;29|15	Hom;C>T	1216;0|44
N	N	-	12	48110613	48110613	G	A	snp	ncRNA_intronic	 	 	 	 	AC004241.1																		rs2524317	0.244609	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ENDOU	ENDOU	ENSG00000257433	Na	Na	Na	Na	Na	Na	Het;G>A	360;20|17	Hom;G>A	2401;0|56
N	N	-	12	48143360	48143360	T	C	snp	intronic	 	 	 	 	RAPGEF3	Rapgef3	ENSG00000079337	Rap guanine nucleotide exchange factor 3	chr12:48128455-48164823		bronchodilator response; depression; smoking behavior	Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia.	Regulation of insulin secretion	GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008283;cell proliferation;TAS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030822;positive regulation of cAMP catabolic process;NAS|GO:0032486;Rap protein signal transduction;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034242;negative regulation of syncytium formation by plasma membrane fusion;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046827;positive regulation of protein export from nucleus;IDA|GO:0050796;regulation of insulin secretion;TAS|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0060143;positive regulation of syncytium formation by plasma membrane fusion;IMP|GO:0061028;establishment of endothelial barrier;IMP|GO:0071320;cellular response to cAMP;IDA|GO:1901985;positive regulation of protein acetylation;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IMP	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017034;Rap guanyl-nucleotide exchange factor activity;IMP|GO:0019904;protein domain specific binding;IPI|GO:0030552;cAMP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF3	https://www.uniprot.org/uniprot/O95398		https://www.ncbi.nlm.nih.gov/omim/?term=606057	http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF3&submit=Quick%0D%1698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF3	rs757280	0.808506	0	0.5773	1	0	0	intronic	intronic	intronic	RAPGEF3	RAPGEF3	ENSG00000079337	Na	Na	Na	Na	Na	Na	Het;T>C	148;14|9	Hom;T>C	498;0|18
N	N	-	12	48144243	48144243	A	C	snp	intronic	 	 	 	 	RAPGEF3	Rapgef3	ENSG00000079337	Rap guanine nucleotide exchange factor 3	chr12:48128455-48164823		bronchodilator response; depression; smoking behavior	Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia.	Regulation of insulin secretion	GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008283;cell proliferation;TAS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030822;positive regulation of cAMP catabolic process;NAS|GO:0032486;Rap protein signal transduction;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034242;negative regulation of syncytium formation by plasma membrane fusion;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046827;positive regulation of protein export from nucleus;IDA|GO:0050796;regulation of insulin secretion;TAS|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0060143;positive regulation of syncytium formation by plasma membrane fusion;IMP|GO:0061028;establishment of endothelial barrier;IMP|GO:0071320;cellular response to cAMP;IDA|GO:1901985;positive regulation of protein acetylation;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IMP	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017034;Rap guanyl-nucleotide exchange factor activity;IMP|GO:0019904;protein domain specific binding;IPI|GO:0030552;cAMP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF3	https://www.uniprot.org/uniprot/O95398		https://www.ncbi.nlm.nih.gov/omim/?term=606057	http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF3&submit=Quick%0D%1698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF3	rs757279	0.809505	0.8025	0.8100	1	0	0	intronic	intronic	intronic	RAPGEF3	RAPGEF3	ENSG00000079337	Na	Na	Na	Na	Na	Na	Het;A>C	395;20|18	Hom;A>C	719;0|27
N	N	-	12	48178127	48178127	A	G	snp	intronic	 	 	 	 	HDAC7	Hdac7	ENSG00000061273	histone deacetylase 7	chr12:48176505-48226915	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	bronchodilator response; Celiac Disease|; Type 2 Diabetes| edema | rosiglitazone	Deletion of this gene result in embryonic lethality by E11, due to vascular defects which are due to endothelial cell adhesion defects.	Regulation of PTEN gene transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001570;vasculogenesis;IEA|GO:0006325;chromatin organization;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IEA|GO:0016925;protein sumoylation;IEA|GO:0032703;negative regulation of interleukin-2 production;IDA|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0090050;positive regulation of cell migration involved in sprouting angiogenesis;IMP|GO:1901223;negative regulation of NIK/NF-kappaB signaling;IMP	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IEA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019789;SUMO transferase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033613;activating transcription factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI|GO:0071889;14-3-3 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HDAC7	https://www.uniprot.org/uniprot/Q8WUI4		https://www.ncbi.nlm.nih.gov/omim/?term=606542	http://www.informatics.jax.org/searchtool/Search.do?query=HDAC7&submit=Quick%0D%1072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC7	rs3192737	0.845248	0	0	1	0	0	intronic	intronic	intronic	HDAC7	HDAC7	ENSG00000061273	Na	Na	Na	Na	Na	Na	Het;A>G	135;9|6	Hom;A>G	543;0|16
N	N	-	12	48259126	48259126	C	T	snp	intronic	 	 	 	 	VDR	Vdr	ENSG00000111424	vitamin D receptor	chr12:48235320-48336831	This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]	periodontitis, early-onset; Lupus; idiopathic osteoarthritis; Osteitis Deformans; Osteomalacia; calcific aortic valve stenosis; sex-dependent growth; HIV Infections|Tuberculosis, Pulmonary; osteoarthritis; hip dysplasia; breast cancer; Leprosy, Lepromatous; Multiple Sclerosis; Drug-Induced Liver Injury|Graft vs Host Disease|Inflammation|Leukemia|Liver Diseases; Aggressive Periodontitis|Alveolar Bone Loss|Periodontitis|Periodontitis, Juvenile; Femoral Neck Fractures|Osteoporosis|Spinal Injuries; multiple sclerosis; rickets; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections; Psoriasis; Endometriosis; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy; benign prostatic hyperplasia and benign prostatic enlargement; lead and mercury metabolism; urinary infection; bone cancer; diabetes, type 1; Periodontitis; Alveolar Bone Loss|Chronic Periodontitis; epithelial ovarian cancer ; Erythema Nodosum|Sarcoidosis; esophageal adenocarcinoma; spinal ossification; birth height growth to adolescence and adult stature; leisure physical activity; spondylosis, lumbar; aseptic loosening post hip replacement osteolysis; Lymphoma, Non-Hodgkin; Chronic renal failure|Kidney Failure, Chronic; Difference in height; Body Weight|; Coronary Artery Disease|; ovarian cancer; Grave`s disease; Amyotrophic Lateral Sclerosis; diabetic nephropathy; Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Vitamin D Deficiency; Inflammation|Venous Thromboembolism; vertebral fracture; juvenile idiopathic arthritis; Kidney Diseases; myocardial infarct; colon cancer rectal cancer; Rickets; lead nephrotoxicity; HIV Infections|[X]Human immunodeficiency virus disease; Gaucher Disease|Osteoporosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Osteoporosis; lumbar disc disease; malignant melanoma; arthritis; Scoliosis; Coronary Artery Disease|Kidney Failure|Uremia; Hypercalcemia|Sarcoidosis, Pulmonary; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Alveolar Bone Loss|Tooth Loss; Urolithiasis; Intervertebral Disk Displacement; Colonic Neoplasms|Insulin Resistance|Rectal Neoplasms; Alveolar Bone Loss|Periodontal Attachment Loss|Tooth Loss; obesity; diabetes, type 2; Body Weight. Bone Mineral Density. and Osteoporotic; beta-Thalassemia; hepatitis B; Hypophosphatemic Rickets, X-Linked Dominant; Coronary Restenosis; Calcinosis|Coronary Artery Disease; Bone Diseases|Osteoporosis; Urinary Calculi; Asthma|; Tuberculosis|Tuberculosis, Pulmonary; Fabry Disease; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Acquired Immunodeficiency Syndrome|Disease Progression; prevalence and severity of CAD; calcium nephrolithiasis; Fractures, Stress; Carcinoma, Papillary, Follicular|Thyroid Neoplasms; ovarian cancer ; Colitis, Ulcerative; Addison's disease; Primary Biliary Cirrhosis; Body Weight; Neoplasms; Fractures, Spontaneous|Osteoporosis, Postmenopausal; breast cancer ; calcium homeostasis and peripheral bone density ; Graves Disease|Graves' Disease; combined bone mass; Kidney Calculi; occupational exposure in lumbar disc degeneration; inflammatory bowel disease ; Chronic renal failure|Hyperparathyroidism|Kidney Failure, Chronic; Leukemia; osteoporosis, postmenopausal; Adenoma|Colonic Neoplasms|Recurrence; Ossification of Posterior Longitudinal Ligament; tuberculosis ; Type 2 diabetes; Bone Resorption; Chronic renal failure|Hyperparathyroidism, Secondary|Kidney Failure, Chronic; Leprosy; bone density; fractures; Birth Weight|Spinal Osteophytosis; hematopoietic outcomes, lead exposure related; lead; psoriasis; cirrhosis, biliary primary; liver disease; extracellular magnesium concentration; leukemia | bone mineral density; Albuminuria|Inflammation|Kidney Diseases; Autoimmune Diseases|Vitiligo; bone density; fractures, vertebral; periodontitis; Tuberculosis, Pulmonary; Hip Fractures|Osteoporosis, Postmenopausal; COPD | Chronic obstructive Pulmonary Disease; Graves Disease|Thyroiditis, Autoimmune; melanoma|Skin Neoplasms; Birth Weight|Fetal Growth Retardation|Intrauterine growth retardation|Vitamin D Deficiency; Dengue Hemorrhagic Fever; bone mineral density; bronchodilator response; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; respiratory syncytial virus bronchiolitis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Diabetes Mellitus, Type 1; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Sarcopenia; Birth Weight|Fetal Diseases|Nutrition Disorders|Osteoporosis|Prenatal Exposure Delayed Effects; Anemia; creatinine kidney function lead toxicity; urinary stone; Anemia, Iron-Deficiency|Kidney Failure, Chronic; Tuberculosis; diabetes, type 1 ; smoking; Spinal Cord Diseases|Spondylosis; Fractures, Bone; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Arthritis, Rheumatoid|Osteoporosis|Rheumatoid Arthritis; Vitiligo; colorectal adenomas; colorectal cancer; pregnancy loss, recurrent; BsmI vitamin D receptor gene polymorphism; breast cancer risk; prostate cancer; normal variation; gastrointestinal toxicity leukemia; Brain Ischemia|Hypertension|Osteoporosis|Stroke; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary|Osteoporosis; Hip Dislocation, Congenital; Spinal Diseases; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Osteoporosis|Rheumatoid Arthritis|Systemic lupus erythematosus; Dwarfism, Pituitary|Pituitary dwarfism|Turner Syndrome|XO syndrome; Hepatitis B; radiographic osteoarthritis at the knee; arthritis, juvenile; betaCL osteocalcin; lead toxicity; chronic obstructive pulmonary disease; HTLV-I Infections|Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; Hypercalcemia|Hypercalciuria; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver Cirrhosis, Alcoholic|Liver neoplasms; Calcium Metabolism Disorders; chronic renal failure.; Progression to AIDS; Bone Diseases, Developmental|Osteoarthritis, Hip; breast cancer fibroadenoma; blood pressure; Osteoporosis, Postmenopausal; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Squamous Cell|Cell Transformation, Neoplastic|Skin Neoplasms|Squamous cell carcinoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Kidney Failure, Chronic|Periodontitis; graft-versus-host disease; bone density calcium phosphorus; Keratosis|Melanoma|Skin Neoplasms; disc degeneration, intervertebral; Brain Ischemia|Inflammation|Stroke; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; Kidney Calculi|Recurrence; liver transplant; Alveolar Bone Loss|Periodontitis; Intervertebral Disk Degeneration|Intervertebral Disk Displacement; calcium oxalate stone disease; Birth Weight|Vitamin D Deficiency; prostate cancer | breast cancer ; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Alopecia Areata; breast cancer development; metastatic breast cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|Precancerous Conditions; Alzheimer's disease ; Tuberculosis, Spinal; Bacterial Vaginosis|Fetal Membranes, Premature Rupture|Vaginosis, Bacterial; Hepatitis C|Remission, Spontaneous; Rectal Neoplasms; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Autoimmune Diseases|Liver Cirrhosis, Biliary; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; pharmacogenetic studies; Degenerative arthropathy |Osteoarthritis; Hyperparathyroidism, Secondary; cognitive ability; Atherosclerosis|Ossification of Posterior Longitudinal Ligament; Acquired Immunodeficiency Syndrome|Substance Abuse, Intravenous; Fractures, Bone|Osteoporosis; blood lead concentration in children.; osteoarthritis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer ; Brain Ischemia|Stroke; Hashimoto Disease; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; Bronchiolitis|Pneumonia; BMI; Bone Resorption|Osteoporosis, Postmenopausal; body mass; bone density; fat-free mass and sarcopenia; calcium; Hip Fractures|Osteoporosis; body mass; lipoproteins; blood pressure; CrossLaps, urinary; osteocalcin; rheumatoid arthritis; zinc; lead toxicity; height; weight; Melanoma|Neoplasm Recurrence, Local; chronic periodontitis ; Diabetes Complications|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Neuropathies|Diabetic Retinopathy; leukemia; null; Hepatitis B, Chronic; Adenoma|Colorectal Neoplasms; Chronic renal failure|Hypercalcemia|Kidney Failure, Chronic; Crohn's disease; osteoporosis, postmenopausal; estradiol; hypertension; ALS/amyotrophic lateral sclerosis; Fractures, Bone|Osteoporosis|Spinal Fractures; Parkinson's disease; Arthritis, Rheumatoid|Disease Susceptibility|Rheumatoid Arthritis; leprosy type; melanoma; Colonic Neoplasms|Microsatellite Instability; obesity|asthma; calcium oxalate stone formation; Aortic Valve Stenosis|; Alveolar Bone Loss|Periodontal Attachment Loss|Periodontitis; blood pressure, arterial; Q fever; Colonic Neoplasms; osteoporosis, postmenopausal; osteopenia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Chronic ulcerative colitis|Colitis, Ulcerative; Kidney Diseases|Lithiasis; Type 2 Diabetes| edema | rosiglitazone; bone density; chronic periodontitis; urolithiasis; Neoplasms, Prostatic|Prostatic Neoplasms; Graft vs Host Disease; Menopause, Premature; Alzheimer's disease; osteoporosis; kidney stone disease; Celiac Disease|; bone mass; nephrolithiasis; height in children; Migraine Disorders; Hyperparathyroidism; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; bone metastases; Colonic Neoplasms|Obesity; Insulin Resistance|Polycystic Ovary Syndrome; Femoral Neck Fractures|Fractures, Stress; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; asthma; systemic lupus erythematosus; Carcinoma, Renal Cell|Kidney Neoplasms; End Stage Renal Disease; lung cancer; Colorectal Neoplasms; Autoimmune Hepatitis; pulmonary tuberculosis; rubella vaccine; Cardiovascular Diseases|Neoplasms; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Retinopathy; quantitative calcaneal ultrasound; Alzheimer's Disease; prostatic hyperplasia; Recurrence|Venous Thromboembolism; metabolic syndrome; bladder cancer; physical activity; Lead Poisoning; Kidney Diseases|Urolithiasis; Ache, Low Back|Intervertebral Disk Displacement|Spinal Osteophytosis; tuberculosis; renal cell carcinoma; Graves Disease; Chlamydia Infections|Inflammation|Trachoma; Bone Diseases, Metabolic|Osteoporosis|Spondylitis, Ankylosing; serum total and ionized calcium concentration; prostate volume/histology endocrine patterns; dengue hemorrhagic fever; Calcium Nephrolithiasis; BILIARY CIRRHOSIS|Hepatitis, Autoimmune|Liver Cirrhosis, Biliary; Arthritis, Psoriatic; Carcinoma, Renal Cell|Renal Cell Carcinoma; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Lymphatic Metastasis|Mammary Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis|Neoplasm Recurrence, Local; early osteoarthritis; Osteoarthritis; bone remodeling; atherosclerosis, coronary; hepatitis B Virus infection; Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Pulmonary Disease, Chronic Obstructive; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Lymphadenitis|Mycobacterium Infections|Periodontitis; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; osteonecrosis; Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local; body mass; birth weight; height; Coronary Artery Disease|Inflammation; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; Vitamin D deficiency rickets; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Hip Fractures; hyperthyroidism; Osteoporosis; Melanoma|Skin Neoplasms; Bone Mineral Density	Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality.  Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets.  Mutant females exhibit uterine hypoplasia with impaired follicular development.	Nuclear Receptor transcription pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000902;cell morphogenesis;IMP|GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007595;lactation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009887;animal organ morphogenesis;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010839;negative regulation of keratinocyte proliferation;IMP|GO:0010980;positive regulation of vitamin D 24-hydroxylase activity;IDA|GO:0038183;bile acid signaling pathway;IDA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046697;decidualization;IEP|GO:0050892;intestinal absorption;IEA|GO:0060058;positive regulation of apoptotic process involved in mammary gland involution;IEA|GO:0060558;regulation of calcidiol 1-monooxygenase activity;ISS|GO:0060745;mammary gland branching involved in pregnancy;IEA|GO:0070561;vitamin D receptor signaling pathway;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008434;calcitriol receptor activity;IDA|GO:0038186;lithocholic acid receptor activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046965;retinoid X receptor binding;IPI|GO:0070644;vitamin D response element binding;IDA|GO:1902098;calcitriol binding;IDA|GO:1902121;lithocholic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VDR	https://www.uniprot.org/uniprot/P11473	https://hpo.jax.org/app/browse/search?q=VDR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601769	http://www.informatics.jax.org/searchtool/Search.do?query=VDR&submit=Quick%0D%4077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VDR	rs12717991	0.422125	0	0	1	0	0	intronic	intronic	intronic	VDR	VDR	ENSG00000111424	Na	Na	Na	Na	Na	Na	Het;C>T	94;3|4	Hom;C>T	150;0|5
N	N	-	12	48851070	48851070	G	T	snp	intergenic	 	 	 	 	OR8T1P																		rs2956468	0.311502	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF641(dist=106041),ANP32D(dist=15378)	ZNF641(dist=106041),ANP32D(dist=15378)	ENSG00000226413(dist=14340),ENSG00000139223(dist=15378)	Na	Na	Na	Na	Na	Na	Het;G>T	113;2|6	Hom;G>T	93;0|5
N	N	-	12	49218171	49218171	A	G	snp	intronic	 	 	 	 	CACNB3	Cacnb3	ENSG00000167535	calcium voltage-gated channel auxiliary subunit beta 3	chr12:49207577-49222724	This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]	Bipolar Disorder	Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation.	Phase 2 - plateau phase	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0007268;chemical synaptic transmission;IBA|GO:0007528;neuromuscular junction development;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051899;membrane depolarization;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901385;regulation of voltage-gated calcium channel activity;IBA	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:1990454;L-type voltage-gated calcium channel complex;ISS	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNB3			https://www.ncbi.nlm.nih.gov/omim/?term=601958	http://www.informatics.jax.org/searchtool/Search.do?query=CACNB3&submit=Quick%0D%12033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNB3	rs2070615	0.61222	0.6562	0.6208	1	0	0	intronic	intronic	intronic	CACNB3	CACNB3	ENSG00000167535	Na	Na	Na	Na	Na	Na	Het;A>G	373;38|23	Hom;A>G	2332;0|87
N	N	-	12	49218810	49218810	G	GT	indel	UTR5;UTR3	-103G>GT	 	 	 	CACNB3	Cacnb3	ENSG00000167535	calcium voltage-gated channel auxiliary subunit beta 3	chr12:49207577-49222724	This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]	Bipolar Disorder	Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation.	Phase 2 - plateau phase	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0007268;chemical synaptic transmission;IBA|GO:0007528;neuromuscular junction development;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051899;membrane depolarization;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901385;regulation of voltage-gated calcium channel activity;IBA	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:1990454;L-type voltage-gated calcium channel complex;ISS	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNB3			https://www.ncbi.nlm.nih.gov/omim/?term=601958	http://www.informatics.jax.org/searchtool/Search.do?query=CACNB3&submit=Quick%0D%12033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNB3	rs11379348	0.417133	0.4226	0	1	0	0	intronic	UTR5;UTR3	intronic	CACNB3	CACNB3(uc001rsk.2:c.-103G>GT);CACNB3(uc010slx.2:c.*253G>GT)	ENSG00000167535	Na	Na	Na	Na	Na	Na	Het;+T	1111;45|42	Hom;+T	3789;0|110
N	N	-	12	49219569	49219569	A	G	snp	intronic	 	 	 	 	CACNB3	Cacnb3	ENSG00000167535	calcium voltage-gated channel auxiliary subunit beta 3	chr12:49207577-49222724	This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]	Bipolar Disorder	Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation.	Phase 2 - plateau phase	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0007268;chemical synaptic transmission;IBA|GO:0007528;neuromuscular junction development;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051899;membrane depolarization;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901385;regulation of voltage-gated calcium channel activity;IBA	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:1990454;L-type voltage-gated calcium channel complex;ISS	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNB3			https://www.ncbi.nlm.nih.gov/omim/?term=601958	http://www.informatics.jax.org/searchtool/Search.do?query=CACNB3&submit=Quick%0D%12033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNB3	rs2453469	0.416733	0.4236	0.4223	1	0	0	intronic	intronic	intronic	CACNB3	CACNB3	ENSG00000167535	Na	Na	Na	Na	Na	Na	Het;A>G	672;27|31	Hom;A>G	1163;0|37
N	N	-	12	49219685	49219685	C	CA	indel	intronic	 	 	 	 	CACNB3	Cacnb3	ENSG00000167535	calcium voltage-gated channel auxiliary subunit beta 3	chr12:49207577-49222724	This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]	Bipolar Disorder	Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation.	Phase 2 - plateau phase	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0007268;chemical synaptic transmission;IBA|GO:0007528;neuromuscular junction development;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051899;membrane depolarization;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901385;regulation of voltage-gated calcium channel activity;IBA	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:1990454;L-type voltage-gated calcium channel complex;ISS	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNB3			https://www.ncbi.nlm.nih.gov/omim/?term=601958	http://www.informatics.jax.org/searchtool/Search.do?query=CACNB3&submit=Quick%0D%12033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNB3	rs3837455	0.417732	0	0	1	0	0	intronic	intronic	intronic	CACNB3	CACNB3	ENSG00000167535	Na	Na	Na	Na	Na	Na	Het;+A	92;3|4	Hom;+A	174;0|6
N	N	-	12	49689597	49689597	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101927267																		rs7488343	0.357029	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101927267	PRPH	ENSG00000258334	Na	Na	Na	Na	Na	Na	Het;G>C	1220;56|50	Hom;G>C	2826;4|99
N	N	-	12	49690337	49690337	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927267																		rs2070760	0.258986	0.3169	0.2211	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101927267	PRPH	ENSG00000258334	Na	Na	Na	Na	Na	Na	Het;T>C	978;58|49	Hom;T>C	2691;4|95
N	N	-	12	49691250	49691250	A	G	snp	synonymous SNV	A1107G	K369K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PRPH	Prph	ENSG00000135406	peripherin	chr12:49687035-49692465	This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]	ALS/amyotrophic lateral sclerosis; Charcot-Marie-Tooth disease; myopia	Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons.			GO:0005882;intermediate filament;TAS|GO:0016020;membrane;IDA|GO:0045098;type III intermediate filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRPH	https://www.uniprot.org/uniprot/P41219	https://hpo.jax.org/app/browse/search?q=PRPH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=170710	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH&submit=Quick%0D%7142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH	rs73112143	0.205272	0.2515	0.2012	1	0	0	exonic	exonic	exonic	PRPH	PRPH	ENSG00000135406	synonymous SNV	synonymous SNV	unknown	PRPH:NM_006262:exon6:c.A1107G:p.K369K,	PRPH:uc001rtu.3:exon6:c.A1107G:p.K369K,	UNKNOWN	Het;A>G	886;43|43	Hom;A>G	2440;1|86
N	N	-	12	49691567	49691567	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101927267																		rs2236746	0.182508	0.2346	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101927267	PRPH	ENSG00000258334	Na	Na	Na	Na	Na	Na	Het;T>C	1986;80|90	Hom;T>C	4487;2|162
N	N	-	12	49721122	49721122	C	T	snp	intronic	 	 	 	 	TROAP	Troap	ENSG00000135451	trophinin associated protein	chr12:49717019-49725514			 		GO:0007155;cell adhesion;TAS	GO:0005737;cytoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TROAP	https://www.uniprot.org/uniprot/Q12815		https://www.ncbi.nlm.nih.gov/omim/?term=603872	http://www.informatics.jax.org/searchtool/Search.do?query=TROAP&submit=Quick%0D%7157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TROAP	rs73309977	0.141174	0.1878	0.1489	1	0	0	intronic	intronic	intronic	TROAP	TROAP	ENSG00000135451	Na	Na	Na	Na	Na	Na	Het;C>T	1252;60|59	Hom;C>T	2812;2|104
N	N	-	12	49723581	49723581	G	A	snp	intronic	 	 	 	 	TROAP	Troap	ENSG00000135451	trophinin associated protein	chr12:49717019-49725514			 		GO:0007155;cell adhesion;TAS	GO:0005737;cytoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TROAP	https://www.uniprot.org/uniprot/Q12815		https://www.ncbi.nlm.nih.gov/omim/?term=603872	http://www.informatics.jax.org/searchtool/Search.do?query=TROAP&submit=Quick%0D%7157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TROAP	rs11835303	0.140974	0	0	1	0	0	intronic	intronic	intronic	TROAP	TROAP	ENSG00000135451	Na	Na	Na	Na	Na	Na	Het;G>A	177;7|8	Hom;G>A	747;0|28
N	N	-	12	49723963	49723963	A	G	snp	synonymous SNV	A1335G	E445E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TROAP	Troap	ENSG00000135451	trophinin associated protein	chr12:49717019-49725514			 		GO:0007155;cell adhesion;TAS	GO:0005737;cytoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TROAP	https://www.uniprot.org/uniprot/Q12815		https://www.ncbi.nlm.nih.gov/omim/?term=603872	http://www.informatics.jax.org/searchtool/Search.do?query=TROAP&submit=Quick%0D%7157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TROAP	rs4243545	0.194089	0.2380	0.1718	1	0	0	exonic	exonic	exonic	TROAP	TROAP	ENSG00000135451	synonymous SNV	synonymous SNV	unknown	TROAP:NM_005480:exon13:c.A1335G:p.E445E,	TROAP:uc009zlh.3:exon13:c.A1335G:p.E445E,TROAP:uc001rtx.4:exon13:c.A1335G:p.E445E,	UNKNOWN	Het;A>G	392;16|15	Hom;A>G	1104;0|38
N	N	-	12	49724955	49724955	A	C	snp	nonsynonymous SNV	A2327C	Y776S	aromatic,polar,hydrophobic	polar,hydrophilic,neutral	TROAP	Troap	ENSG00000135451	trophinin associated protein	chr12:49717019-49725514			 		GO:0007155;cell adhesion;TAS	GO:0005737;cytoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TROAP	https://www.uniprot.org/uniprot/Q12815		https://www.ncbi.nlm.nih.gov/omim/?term=603872	http://www.informatics.jax.org/searchtool/Search.do?query=TROAP&submit=Quick%0D%7157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TROAP	rs3088008	0.143371	0.1899	0.1594	0.10	1	10	intronic	exonic	exonic	TROAP	TROAP	ENSG00000135451	Na	nonsynonymous SNV	unknown	Na	TROAP:uc009zlh.3:exon13:c.A2327C:p.Y776S,	UNKNOWN	Het;A>C	271;23|13	Hom;A>C	1318;0|44
N	N	-	12	49726717	49726717	C	T	snp	UTR3	*120G>A	 	 	 	C1QL4	C1ql4	ENSG00000186897	complement C1q like 4	chr12:49726200-49730971			 		GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA	GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA	GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C1QL4			https://www.ncbi.nlm.nih.gov/omim/?term=615229	http://www.informatics.jax.org/searchtool/Search.do?query=C1QL4&submit=Quick%0D%15733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QL4	rs56911877	0.0820687	0	0	1	0	0	UTR3	UTR3	UTR3	C1QL4(NM_001008223:c.*120G>A)	C1QL4(uc001rtz.1:c.*120G>A)	ENSG00000186897(ENST00000334221:c.*120G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	73;1|4	Hom;C>T	252;0|9
N	N	-	12	49730135	49730135	G	C	snp	synonymous SNV	C126G	P42P	hydrophobic,neutral	hydrophobic,neutral	C1QL4	C1ql4	ENSG00000186897	complement C1q like 4	chr12:49726200-49730971			 		GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA	GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA	GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C1QL4			https://www.ncbi.nlm.nih.gov/omim/?term=615229	http://www.informatics.jax.org/searchtool/Search.do?query=C1QL4&submit=Quick%0D%15733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QL4	rs146137821	0.090655	0.0992	0.3279	1	0	0	exonic	exonic	exonic	C1QL4	C1QL4	ENSG00000186897	synonymous SNV	synonymous SNV	unknown	C1QL4:NM_001008223:exon1:c.C126G:p.P42P,	C1QL4:uc001rtz.1:exon1:c.C126G:p.P42P,	UNKNOWN	Het;G>C	333;17|17	Hom;G>C	628;2|27
N	N	-	12	49784860	49784860	C	CA	indel	ncRNA_exonic	 	 	 	 	LOC100335030																		rs11390302	0.265176	0	0	1	0	0	ncRNA_exonic	UTR3	intronic	LOC100335030	LOC100335030(uc021qxp.2:c.*1232C>CA)	ENSG00000123352	Na	Na	Na	Na	Na	Na	Het;+A	1252;71|61	Hom;+A	3706;2|137
N	N	-	12	49883371	49883371	A	G	snp	intronic	 	 	 	 	SPATS2	Spats2	ENSG00000123352	spermatogenesis associated serine rich 2	chr12:49760367-49921205		Tobacco Use Disorder	 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPATS2	https://www.uniprot.org/uniprot/Q86XZ4		https://www.ncbi.nlm.nih.gov/omim/?term=611667	http://www.informatics.jax.org/searchtool/Search.do?query=SPATS2&submit=Quick%0D%5513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATS2	rs2272478	0.266773	0.3249	0.2341	1	0	0	intronic	intronic	intronic	SPATS2	SPATS2	ENSG00000123352	Na	Na	Na	Na	Na	Na	Het;A>G	983;86|51	Hom;A>G	3148;0|114
N	N	-	12	49916459	49916459	A	T	snp	intronic	 	 	 	 	SPATS2	Spats2	ENSG00000123352	spermatogenesis associated serine rich 2	chr12:49760367-49921205		Tobacco Use Disorder	 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPATS2	https://www.uniprot.org/uniprot/Q86XZ4		https://www.ncbi.nlm.nih.gov/omim/?term=611667	http://www.informatics.jax.org/searchtool/Search.do?query=SPATS2&submit=Quick%0D%5513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATS2	rs12309053	0.214457	0	0	1	0	0	intronic	intronic	intronic	SPATS2	SPATS2	ENSG00000123352	Na	Na	Na	Na	Na	Na	Het;A>T	217;12|9	Hom;A>T	736;0|25
N	N	-	12	49934565	49934565	G	A	snp	intronic	 	 	 	 	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs7132792	0.283147	0	0	1	0	0	intronic	intronic	intronic	KCNH3	KCNH3	ENSG00000135519	Na	Na	Na	Na	Na	Na	Het;G>A	143;9|6	Hom;G>A	385;0|13
N	N	-	12	49935027	49935027	G	C	snp	intronic	 	 	 	 	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs12311527	0.277356	0	0	1	0	0	intronic	intronic	intronic	KCNH3	KCNH3	ENSG00000135519	Na	Na	Na	Na	Na	Na	Het;G>C	64;7|4	Hom;G>C	644;0|20
N	N	-	12	49937654	49937655	GC	G	indel	intronic	 	 	 	 	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs11337899	0.230631	0.2419	0.2148	1	0	0	intronic	intronic	intronic	KCNH3	KCNH3	ENSG00000135519	Na	Na	Na	Na	Na	Na	Het;-C	218;28|12	Hom;-C	896;0|30
N	N	-	12	49937813	49937813	A	G	snp	synonymous SNV	A759G	A253A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs1150057	0.264177	0.2839	0.1936	1	0	0	exonic	exonic	exonic	KCNH3	KCNH3	ENSG00000135519	synonymous SNV	synonymous SNV	unknown	KCNH3:NM_012284:exon6:c.A939G:p.A313A,	KCNH3:uc010smj.1:exon6:c.A759G:p.A253A,KCNH3:uc001ruh.1:exon6:c.A939G:p.A313A,	UNKNOWN	Het;A>G	821;55|39	Hom;A>G	1785;0|67
N	N	-	12	49943122	49943122	A	G	snp	intronic	 	 	 	 	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs933738	0.258187	0	0	1	0	0	intronic	intronic	intronic	KCNH3	KCNH3	ENSG00000135519	Na	Na	Na	Na	Na	Na	Het;A>G	62;4|3	Hom;A>G	545;0|17
N	N	-	12	49943840	49943840	C	T	snp	intronic	 	 	 	 	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs2278070	0.110224	0.1115	0.1119	1	0	0	intronic	intronic	intronic	KCNH3	KCNH3	ENSG00000135519	Na	Na	Na	Na	Na	Na	Het;C>T	110;4|8	Hom;C>T	371;0|17
N	N	-	12	49948105	49948105	A	G	snp	intronic	 	 	 	 	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs3815832	0.206669	0.2176	0.1388	1	0	0	intronic	intronic	intronic	KCNH3	KCNH3	ENSG00000135519	Na	Na	Na	Na	Na	Na	Het;A>G	415;32|20	Hom;A>G	1212;0|42
N	N	-	12	49951232	49951232	T	C	snp	synonymous SNV	T2568C	G856G	aliphatic,neutral	aliphatic,neutral	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs2241418	0.206869	0.2164	0.1409	1	0	0	exonic	exonic	exonic	KCNH3	KCNH3	ENSG00000135519	synonymous SNV	synonymous SNV	unknown	KCNH3:NM_012284:exon15:c.T2748C:p.G916G,	KCNH3:uc010smj.1:exon15:c.T2568C:p.G856G,KCNH3:uc001ruh.1:exon15:c.T2748C:p.G916G,	UNKNOWN	Het;T>C	1498;56|63	Hom;T>C	2738;0|95
N	N	-	12	49951377	49951377	C	T	snp	nonsynonymous SNV	C2893T	R965C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	KCNH3	Kcnh3	ENSG00000135519	potassium voltage-gated channel subfamily H member 3	chr12:49932940-49952091	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]	Breath Tests	Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.	Voltage gated Potassium channels	GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNH3	https://www.uniprot.org/uniprot/Q9ULD8		https://www.ncbi.nlm.nih.gov/omim/?term=604527	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3	rs59261129	0.0732827	0.0902	0.0660	0.46	6	13	exonic	exonic	exonic	KCNH3	KCNH3	ENSG00000135519	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNH3:NM_012284:exon15:c.C2893T:p.R965C,	KCNH3:uc010smj.1:exon15:c.C2713T:p.R905C,KCNH3:uc001ruh.1:exon15:c.C2893T:p.R965C,	UNKNOWN	Het;C>T	1344;65|65	Hom;C>T	2980;2|111
N	N	-	12	49952394	49952394	C	T	snp	UTR3	*1063G>A	 	 	 	MCRS1	Mcrs1	ENSG00000187778	microspherule protein 1	chr12:49950327-49961936			Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation. In culture, inner cell mass/epiblast cells fail to form a typical outgrowth colony.	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:1904751;positive regulation of protein localization to nucleolus;IDA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005844;polysome;ISS|GO:0030425;dendrite;ISS|GO:0031011;Ino80 complex;IDA|GO:0043204;perikaryon;ISS|GO:0071339;MLL1 complex;IDA	GO:0002151;G-quadruplex RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0034046;poly(G) binding;IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCRS1			https://www.ncbi.nlm.nih.gov/omim/?term=609504	http://www.informatics.jax.org/searchtool/Search.do?query=MCRS1&submit=Quick%0D%15895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCRS1	rs13906	0.205272	0.2155	0.1364	1	0	0	UTR3	UTR3	UTR3	MCRS1(NM_001278341:c.*32G>A,NM_006337:c.*32G>A,NM_001012300:c.*32G>A)	MCRS1(uc001rui.1:c.*32G>A,uc001ruj.2:c.*32G>A,uc001ruk.1:c.*32G>A,uc009zlj.1:c.*32G>A)	ENSG00000187778(ENST00000548602:c.*1063G>A,ENST00000546244:c.*32G>A,ENST00000343810:c.*32G>A,ENST00000550165:c.*32G>A,ENST00000548646:c.*306G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	483;12|22	Hom;C>T	1064;1|41
N	N	-	12	49952668	49952668	G	A	snp	synonymous SNV	C1299T	L433L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MCRS1	Mcrs1	ENSG00000187778	microspherule protein 1	chr12:49950327-49961936			Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation. In culture, inner cell mass/epiblast cells fail to form a typical outgrowth colony.	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:1904751;positive regulation of protein localization to nucleolus;IDA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005844;polysome;ISS|GO:0030425;dendrite;ISS|GO:0031011;Ino80 complex;IDA|GO:0043204;perikaryon;ISS|GO:0071339;MLL1 complex;IDA	GO:0002151;G-quadruplex RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0034046;poly(G) binding;IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCRS1			https://www.ncbi.nlm.nih.gov/omim/?term=609504	http://www.informatics.jax.org/searchtool/Search.do?query=MCRS1&submit=Quick%0D%15895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCRS1	rs2303305	0.108626	0.1129	0.0938	1	0	0	exonic	exonic	exonic	MCRS1	MCRS1	ENSG00000187778	synonymous SNV	synonymous SNV	unknown	MCRS1:NM_001012300:exon13:c.C1299T:p.L433L,MCRS1:NM_006337:exon14:c.C1260T:p.L420L,MCRS1:NM_001278341:exon12:c.C687T:p.L229L,	MCRS1:uc001rui.1:exon13:c.C1299T:p.L433L,MCRS1:uc001ruj.2:exon13:c.C1221T:p.L407L,MCRS1:uc009zlj.1:exon12:c.C687T:p.L229L,MCRS1:uc001ruk.1:exon14:c.C1260T:p.L420L,	UNKNOWN	Het;G>A	1407;71|68	Hom;G>A	3173;0|121
N	N	-	12	49956971	49956973	CCT	C	indel	intronic	 	 	 	 	MCRS1	Mcrs1	ENSG00000187778	microspherule protein 1	chr12:49950327-49961936			Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation. In culture, inner cell mass/epiblast cells fail to form a typical outgrowth colony.	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:1904751;positive regulation of protein localization to nucleolus;IDA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005844;polysome;ISS|GO:0030425;dendrite;ISS|GO:0031011;Ino80 complex;IDA|GO:0043204;perikaryon;ISS|GO:0071339;MLL1 complex;IDA	GO:0002151;G-quadruplex RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0034046;poly(G) binding;IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCRS1			https://www.ncbi.nlm.nih.gov/omim/?term=609504	http://www.informatics.jax.org/searchtool/Search.do?query=MCRS1&submit=Quick%0D%15895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCRS1	rs111783307	0.205471	0.2186	0.1526	1	0	0	intronic	intronic	intronic	MCRS1	MCRS1	ENSG00000187778	Na	Na	Na	Na	Na	Na	Het;-CT	791;21|22	Hom;-CT	3041;0|72
N	N	-	12	49957103	49957103	A	G	snp	intronic	 	 	 	 	MCRS1	Mcrs1	ENSG00000187778	microspherule protein 1	chr12:49950327-49961936			Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation. In culture, inner cell mass/epiblast cells fail to form a typical outgrowth colony.	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:1904751;positive regulation of protein localization to nucleolus;IDA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005844;polysome;ISS|GO:0030425;dendrite;ISS|GO:0031011;Ino80 complex;IDA|GO:0043204;perikaryon;ISS|GO:0071339;MLL1 complex;IDA	GO:0002151;G-quadruplex RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0034046;poly(G) binding;IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCRS1			https://www.ncbi.nlm.nih.gov/omim/?term=609504	http://www.informatics.jax.org/searchtool/Search.do?query=MCRS1&submit=Quick%0D%15895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCRS1	rs57965817	0.259784	0	0	1	0	0	intronic	intronic	intronic	MCRS1	MCRS1	ENSG00000187778	Na	Na	Na	Na	Na	Na	Het;A>G	171;5|6	Hom;A>G	263;0|9
N	N	-	12	49959590	49959590	T	TCA	indel	intronic	 	 	 	 	MCRS1	Mcrs1	ENSG00000187778	microspherule protein 1	chr12:49950327-49961936			Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation. In culture, inner cell mass/epiblast cells fail to form a typical outgrowth colony.	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:1904751;positive regulation of protein localization to nucleolus;IDA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005844;polysome;ISS|GO:0030425;dendrite;ISS|GO:0031011;Ino80 complex;IDA|GO:0043204;perikaryon;ISS|GO:0071339;MLL1 complex;IDA	GO:0002151;G-quadruplex RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0034046;poly(G) binding;IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCRS1			https://www.ncbi.nlm.nih.gov/omim/?term=609504	http://www.informatics.jax.org/searchtool/Search.do?query=MCRS1&submit=Quick%0D%15895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCRS1	rs56745197	0.20607	0	0	1	0	0	intronic	intronic	intronic	MCRS1	MCRS1	ENSG00000187778	Na	Na	Na	Na	Na	Na	Het;+CA	572;7|15	Hom;+CA	593;0|14
N	N	-	12	49960551	49960551	C	A	snp	UTR5	-582G>T	 	 	 	MCRS1	Mcrs1	ENSG00000187778	microspherule protein 1	chr12:49950327-49961936			Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation. In culture, inner cell mass/epiblast cells fail to form a typical outgrowth colony.	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:1904751;positive regulation of protein localization to nucleolus;IDA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005844;polysome;ISS|GO:0030425;dendrite;ISS|GO:0031011;Ino80 complex;IDA|GO:0043204;perikaryon;ISS|GO:0071339;MLL1 complex;IDA	GO:0002151;G-quadruplex RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0034046;poly(G) binding;IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCRS1			https://www.ncbi.nlm.nih.gov/omim/?term=609504	http://www.informatics.jax.org/searchtool/Search.do?query=MCRS1&submit=Quick%0D%15895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCRS1	rs13066	0.226438	0.2395	0.1446	1	0	0	UTR5	UTR5	UTR5	MCRS1(NM_006337:c.-37G>T)	MCRS1(uc001ruj.2:c.-582G>T,uc001ruk.1:c.-37G>T)	ENSG00000187778(ENST00000343810:c.-37G>T,ENST00000550165:c.-37G>T,ENST00000548334:c.-37G>T,ENST00000548596:c.-37G>T,ENST00000549528:c.-37G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	433;30|20	Hom;C>A	1204;0|48
N	N	-	12	49987929	49987929	G	A	snp	ncRNA_exonic	 	 	 	 	POLR2KP1																		rs7965658	0.324081	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FAM186B	FAM186B	ENSG00000258284	Na	Na	Na	Na	Na	Na	Het;G>A	144;17|8	Hom;G>A	377;0|15
N	N	-	12	49989105	49989105	A	T	snp	ncRNA_exonic	 	 	 	 	AC020612.1																		rs60415769	0.0766773	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FAM186B	FAM186B	ENSG00000257243	Na	Na	Na	Na	Na	Na	Het;A>T	248;17|12	Hom;A>T	655;0|25
N	N	-	12	49989336	49989336	G	A	snp	ncRNA_exonic	 	 	 	 	AC020612.1																		rs57916875	0.113219	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FAM186B	FAM186B	ENSG00000257243	Na	Na	Na	Na	Na	Na	Het;G>A	96;13|7	Hom;G>A	343;0|13
N	N	-	12	49993678	49993678	C	T	snp	nonsynonymous SNV	G1745A	R582Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FAM186B	Fam186b	ENSG00000135436	family with sequence similarity 186 member B	chr12:49976668-49999422	This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]		 			GO:0043234;protein complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FAM186B	https://www.uniprot.org/uniprot/Q8IYM0			http://www.informatics.jax.org/searchtool/Search.do?query=FAM186B&submit=Quick%0D%7150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM186B	rs52824916	0.113219	0.1143	0.0958	0.15	2	13	exonic	exonic	exonic	FAM186B	FAM186B	ENSG00000135436	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM186B:NM_032130:exon4:c.G1745A:p.R582Q,	FAM186B:uc010smk.2:exon4:c.G1475A:p.R492Q,FAM186B:uc001ruo.3:exon4:c.G1745A:p.R582Q,	UNKNOWN	Het;C>T	1342;57|57	Hom;C>T	2909;0|100
N	N	-	12	50040811	50040811	A	AG	indel	intronic	 	 	 	 	FMNL3	Fmnl3	ENSG00000161791	formin like 3	chr12:50031724-50101948	The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Breath Tests	 	RHO GTPases Activate Formins	GO:0001525;angiogenesis;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0007275;multicellular organism development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016043;cellular component organization;IEA|GO:0016477;cell migration;IMP|GO:0030036;actin cytoskeleton organization;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0032794;GTPase activating protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMNL3			https://www.ncbi.nlm.nih.gov/omim/?term=616288	http://www.informatics.jax.org/searchtool/Search.do?query=FMNL3&submit=Quick%0D%10606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL3	rs3841320	0.326278	0.3518	0.2350	1	0	0	intronic	intronic	intronic	FMNL3	FMNL3	ENSG00000161791	Na	Na	Na	Na	Na	Na	Het;+G	1729;44|65	Hom;+G	2567;0|81
N	N	-	12	50040968	50040968	T	TC	indel	intronic	 	 	 	 	FMNL3	Fmnl3	ENSG00000161791	formin like 3	chr12:50031724-50101948	The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Breath Tests	 	RHO GTPases Activate Formins	GO:0001525;angiogenesis;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0007275;multicellular organism development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016043;cellular component organization;IEA|GO:0016477;cell migration;IMP|GO:0030036;actin cytoskeleton organization;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0032794;GTPase activating protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMNL3			https://www.ncbi.nlm.nih.gov/omim/?term=616288	http://www.informatics.jax.org/searchtool/Search.do?query=FMNL3&submit=Quick%0D%10606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL3	rs143718193	0.0225639	0	0	1	0	0	intronic	intronic	intronic	FMNL3	FMNL3	ENSG00000161791	Na	Na	Na	Na	Na	Na	Het;+C	43;6|3	Hom;+C	319;0|10
N	N	-	12	50047182	50047182	C	A	snp	intronic	 	 	 	 	FMNL3	Fmnl3	ENSG00000161791	formin like 3	chr12:50031724-50101948	The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Breath Tests	 	RHO GTPases Activate Formins	GO:0001525;angiogenesis;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0007275;multicellular organism development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016043;cellular component organization;IEA|GO:0016477;cell migration;IMP|GO:0030036;actin cytoskeleton organization;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0032794;GTPase activating protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMNL3			https://www.ncbi.nlm.nih.gov/omim/?term=616288	http://www.informatics.jax.org/searchtool/Search.do?query=FMNL3&submit=Quick%0D%10606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL3	rs4641552	0.077476	0	0	1	0	0	intronic	intronic	intronic	FMNL3	FMNL3	ENSG00000161791	Na	Na	Na	Na	Na	Na	Het;C>A	568;22|29	Hom;C>A	813;0|29
N	N	-	12	50052596	50052596	A	C	snp	intronic	 	 	 	 	FMNL3	Fmnl3	ENSG00000161791	formin like 3	chr12:50031724-50101948	The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Breath Tests	 	RHO GTPases Activate Formins	GO:0001525;angiogenesis;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0007275;multicellular organism development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016043;cellular component organization;IEA|GO:0016477;cell migration;IMP|GO:0030036;actin cytoskeleton organization;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0032794;GTPase activating protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMNL3			https://www.ncbi.nlm.nih.gov/omim/?term=616288	http://www.informatics.jax.org/searchtool/Search.do?query=FMNL3&submit=Quick%0D%10606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL3	rs11169097	0.223243	0	0	1	0	0	intronic	intronic	intronic	FMNL3	FMNL3	ENSG00000161791	Na	Na	Na	Na	Na	Na	Het;A>C	51;1|3	Hom;A>C	183;0|6
N	N	-	12	50146950	50146950	T	C	snp	intronic	 	 	 	 	TMBIM6	Tmbim6	ENSG00000139644	transmembrane BAX inhibitor motif containing 6	chr12:50101508-50158717		Breath Tests; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006986;response to unfolded protein;IEA|GO:0010523;negative regulation of calcium ion transport into cytosol;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0051025;negative regulation of immunoglobulin secretion;IEA|GO:0060702;negative regulation of endoribonuclease activity;IDA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:1902065;response to L-glutamate;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IDA|GO:1904721;negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA|GO:2001234;negative regulation of apoptotic signaling pathway;IDA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0060698;endoribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM6	https://www.uniprot.org/uniprot/P55061		https://www.ncbi.nlm.nih.gov/omim/?term=600748	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM6&submit=Quick%0D%7918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM6	rs1012874	0.116014	0	0	1	0	0	intronic	intronic	intronic	TMBIM6	TMBIM6	ENSG00000139644	Na	Na	Na	Na	Na	Na	Het;T>C	424;13|18	Hom;T>C	927;0|25
N	N	-	12	50149347	50149347	A	G	snp	intronic	 	 	 	 	TMBIM6	Tmbim6	ENSG00000139644	transmembrane BAX inhibitor motif containing 6	chr12:50101508-50158717		Breath Tests; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006986;response to unfolded protein;IEA|GO:0010523;negative regulation of calcium ion transport into cytosol;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0051025;negative regulation of immunoglobulin secretion;IEA|GO:0060702;negative regulation of endoribonuclease activity;IDA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:1902065;response to L-glutamate;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IDA|GO:1904721;negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA|GO:2001234;negative regulation of apoptotic signaling pathway;IDA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0060698;endoribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM6	https://www.uniprot.org/uniprot/P55061		https://www.ncbi.nlm.nih.gov/omim/?term=600748	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM6&submit=Quick%0D%7918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM6	rs17123927	0.115815	0	0	1	0	0	intronic	intronic	intronic	TMBIM6	TMBIM6	ENSG00000139644	Na	Na	Na	Na	Na	Na	Het;A>G	214;13|10	Hom;A>G	657;0|22
N	N	-	12	50149544	50149544	T	C	snp	intronic	 	 	 	 	TMBIM6	Tmbim6	ENSG00000139644	transmembrane BAX inhibitor motif containing 6	chr12:50101508-50158717		Breath Tests; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006986;response to unfolded protein;IEA|GO:0010523;negative regulation of calcium ion transport into cytosol;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0051025;negative regulation of immunoglobulin secretion;IEA|GO:0060702;negative regulation of endoribonuclease activity;IDA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:1902065;response to L-glutamate;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IDA|GO:1904721;negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA|GO:2001234;negative regulation of apoptotic signaling pathway;IDA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0060698;endoribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM6	https://www.uniprot.org/uniprot/P55061		https://www.ncbi.nlm.nih.gov/omim/?term=600748	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM6&submit=Quick%0D%7918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM6	rs74087188	0.123203	0.1393	0.0866	1	0	0	intronic	intronic	intronic	TMBIM6	TMBIM6	ENSG00000139644	Na	Na	Na	Na	Na	Na	Het;T>C	620;31|28	Hom;T>C	2417;0|85
N	N	-	12	50149604	50149604	C	T	snp	intronic	 	 	 	 	TMBIM6	Tmbim6	ENSG00000139644	transmembrane BAX inhibitor motif containing 6	chr12:50101508-50158717		Breath Tests; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006986;response to unfolded protein;IEA|GO:0010523;negative regulation of calcium ion transport into cytosol;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0051025;negative regulation of immunoglobulin secretion;IEA|GO:0060702;negative regulation of endoribonuclease activity;IDA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:1902065;response to L-glutamate;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IDA|GO:1904721;negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA|GO:2001234;negative regulation of apoptotic signaling pathway;IDA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0060698;endoribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM6	https://www.uniprot.org/uniprot/P55061		https://www.ncbi.nlm.nih.gov/omim/?term=600748	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM6&submit=Quick%0D%7918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM6	rs77056500	0.0904553	0	0	1	0	0	intronic	intronic	intronic	TMBIM6	TMBIM6	ENSG00000139644	Na	Na	Na	Na	Na	Na	Het;C>T	219;15|12	Hom;C>T	921;0|34
N	N	-	12	50152193	50152193	G	A	snp	synonymous SNV	G537A	T179T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TMBIM6	Tmbim6	ENSG00000139644	transmembrane BAX inhibitor motif containing 6	chr12:50101508-50158717		Breath Tests; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006986;response to unfolded protein;IEA|GO:0010523;negative regulation of calcium ion transport into cytosol;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0051025;negative regulation of immunoglobulin secretion;IEA|GO:0060702;negative regulation of endoribonuclease activity;IDA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:1902065;response to L-glutamate;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IDA|GO:1904721;negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA|GO:2001234;negative regulation of apoptotic signaling pathway;IDA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0060698;endoribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM6	https://www.uniprot.org/uniprot/P55061		https://www.ncbi.nlm.nih.gov/omim/?term=600748	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM6&submit=Quick%0D%7918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM6	rs4563	0.218251	0.2249	0.1345	1	0	0	exonic	exonic	exonic	TMBIM6	TMBIM6	ENSG00000139644	synonymous SNV	synonymous SNV	unknown	TMBIM6:NM_003217:exon6:c.G363A:p.T121T,TMBIM6:NM_001098576:exon6:c.G537A:p.T179T,	TMBIM6:uc001ruy.2:exon6:c.G537A:p.T179T,TMBIM6:uc001ruz.2:exon6:c.G363A:p.T121T,TMBIM6:uc001rux.2:exon6:c.G363A:p.T121T,	UNKNOWN	Het;G>A	1607;83|73	Hom;G>A	3496;6|135
N	N	-	12	50156640	50156640	T	C	snp	intronic	 	 	 	 	TMBIM6	Tmbim6	ENSG00000139644	transmembrane BAX inhibitor motif containing 6	chr12:50101508-50158717		Breath Tests; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006986;response to unfolded protein;IEA|GO:0010523;negative regulation of calcium ion transport into cytosol;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0051025;negative regulation of immunoglobulin secretion;IEA|GO:0060702;negative regulation of endoribonuclease activity;IDA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:1902065;response to L-glutamate;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IDA|GO:1904721;negative regulation of mRNA endonucleolytic cleavage involved in unfolded protein response;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA|GO:2001234;negative regulation of apoptotic signaling pathway;IDA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0060698;endoribonuclease inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM6	https://www.uniprot.org/uniprot/P55061		https://www.ncbi.nlm.nih.gov/omim/?term=600748	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM6&submit=Quick%0D%7918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM6	rs10506287	0.0892572	0.1012	0.0670	1	0	0	intronic	intronic	intronic	TMBIM6	TMBIM6	ENSG00000139644	Na	Na	Na	Na	Na	Na	Het;T>C	786;24|36	Hom;T>C	2040;2|79
N	N	-	12	50297670	50297670	T	C	snp	UTR5	-95A>G	 	 	 	FAIM2	Faim2	ENSG00000135472	Fas apoptotic inhibitory molecule 2	chr12:50260679-50298000		obesity; Hip; Leukocyte Count; waist circumference; Body Weight|Obesity; obesity|Type 2 diabetes; Body mass index; weight 	A mutation in this gene results in kidney abnormalities including enlargement and dilation.  A reduced seizure threshold in response to pharmacological agents is also observed.		GO:0002931;response to ischemia;IEA|GO:0006915;apoptotic process;IEA|GO:0021549;cerebellum development;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0021681;cerebellar granular layer development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0043066;negative regulation of apoptotic process;NAS|GO:0043523;regulation of neuron apoptotic process;IMP|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:2001234;negative regulation of apoptotic signaling pathway;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAIM2	https://www.uniprot.org/uniprot/Q9BWQ8		https://www.ncbi.nlm.nih.gov/omim/?term=604306	http://www.informatics.jax.org/searchtool/Search.do?query=FAIM2&submit=Quick%0D%7162ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAIM2	rs706795	0.44389	0.4936	0	1	0	0	UTR5	UTR5	UTR5	FAIM2(NM_012306:c.-95A>G)	FAIM2(uc001rvj.2:c.-95A>G)	ENSG00000135472(ENST00000320634:c.-95A>G,ENST00000550635:c.-95A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	143;11|8	Hom;T>C	318;0|10
N	N	-	12	50303927	50303927	C	T	snp	ncRNA_exonic	 	 	 	 	LOC283332																		rs638515	0.263379	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC283332	LOC283332(uc001rvl.4:c.*589G>A)	ENSG00000258135	Na	Na	Na	Na	Na	Na	Het;C>T	3252;127|155	Hom;C>T	7990;0|300
N	N	-	12	50304949	50304949	G	A	snp	ncRNA_exonic	 	 	 	 	LINC02396																		rs450798	0.618211	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	LOC283332	LOC283332	ENSG00000258135	Na	Na	Na	Na	Na	Na	Het;G>A	641;21|29	Hom;G>A	2058;0|78
N	N	-	12	50319086	50319086	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927292																		rs297941	0.549321	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927292	BC034605	ENSG00000257771	Na	Na	Na	Na	Na	Na	Het;A>G	886;34|40	Hom;A>G	1333;0|49
N	N	-	12	50344976	50344976	G	A	snp	intronic	 	 	 	 	AQP2	Aqp2	ENSG00000167580	aquaporin 2	chr12:50344524-50352664	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Venous Thrombosis; MENIERE DISEASE; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tobacco Use Disorder; Type 2 diabetes	Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood.	Passive transport by Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0003097;renal water transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;IDA|GO:0034220;ion transmembrane transport;IBA|GO:0042631;cellular response to water deprivation;IEA|GO:0071280;cellular response to copper ion;IDA|GO:0071288;cellular response to mercury ion;IDA|GO:0072205;metanephric collecting duct development;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030658;transport vesicle membrane;TAS|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005372;water transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015168;glycerol transmembrane transporter activity;IDA|GO:0015250;water channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP2		https://hpo.jax.org/app/browse/search?q=AQP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107777	http://www.informatics.jax.org/searchtool/Search.do?query=AQP2&submit=Quick%0D%12047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP2	rs3741559	0.210863	0.1524	0.2218	1	0	0	intronic	intronic	intronic	AQP2	AQP2	ENSG00000167580	Na	Na	Na	Na	Na	Na	Het;G>A	382;45|23	Hom;G>A	2021;0|77
N	N	-	12	50345711	50345711	C	G	snp	ncRNA_exonic	 	 	 	 	LOC101927318																		rs34119994	0.216853	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101927318	AQP2	ENSG00000257588	Na	Na	Na	Na	Na	Na	Het;C>G	420;38|23	Hom;C>G	1170;0|40
N	N	-	12	50351075	50351075	T	C	snp	UTR3	*1684T>C	 	 	 	AQP2	Aqp2	ENSG00000167580	aquaporin 2	chr12:50344524-50352664	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Venous Thrombosis; MENIERE DISEASE; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tobacco Use Disorder; Type 2 diabetes	Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood.	Passive transport by Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0003097;renal water transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;IDA|GO:0034220;ion transmembrane transport;IBA|GO:0042631;cellular response to water deprivation;IEA|GO:0071280;cellular response to copper ion;IDA|GO:0071288;cellular response to mercury ion;IDA|GO:0072205;metanephric collecting duct development;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030658;transport vesicle membrane;TAS|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005372;water transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015168;glycerol transmembrane transporter activity;IDA|GO:0015250;water channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP2		https://hpo.jax.org/app/browse/search?q=AQP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107777	http://www.informatics.jax.org/searchtool/Search.do?query=AQP2&submit=Quick%0D%12047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP2	rs10875989	0.48123	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_intronic	LOC101927318	AQP2(uc001rvn.3:c.*1684T>C)	ENSG00000257588	Na	Na	Na	Na	Na	Na	Het;T>C	911;58|46	Hom;T>C	2110;0|78
N	N	-	12	50352116	50352116	A	C	snp	UTR3	*2725A>C	 	 	 	AQP2	Aqp2	ENSG00000167580	aquaporin 2	chr12:50344524-50352664	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Venous Thrombosis; MENIERE DISEASE; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tobacco Use Disorder; Type 2 diabetes	Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood.	Passive transport by Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0003097;renal water transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;IDA|GO:0034220;ion transmembrane transport;IBA|GO:0042631;cellular response to water deprivation;IEA|GO:0071280;cellular response to copper ion;IDA|GO:0071288;cellular response to mercury ion;IDA|GO:0072205;metanephric collecting duct development;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030658;transport vesicle membrane;TAS|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005372;water transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015168;glycerol transmembrane transporter activity;IDA|GO:0015250;water channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP2		https://hpo.jax.org/app/browse/search?q=AQP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107777	http://www.informatics.jax.org/searchtool/Search.do?query=AQP2&submit=Quick%0D%12047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP2	rs1077520	0.264577	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_intronic	LOC101927318	AQP2(uc001rvn.3:c.*2725A>C)	ENSG00000257588	Na	Na	Na	Na	Na	Na	Het;A>C	1185;43|48	Hom;A>C	2226;2|82
N	N	-	12	50352393	50352393	G	C	snp	UTR3	*3002G>C	 	 	 	AQP2	Aqp2	ENSG00000167580	aquaporin 2	chr12:50344524-50352664	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Venous Thrombosis; MENIERE DISEASE; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tobacco Use Disorder; Type 2 diabetes	Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood.	Passive transport by Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0003097;renal water transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;IDA|GO:0034220;ion transmembrane transport;IBA|GO:0042631;cellular response to water deprivation;IEA|GO:0071280;cellular response to copper ion;IDA|GO:0071288;cellular response to mercury ion;IDA|GO:0072205;metanephric collecting duct development;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030658;transport vesicle membrane;TAS|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005372;water transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015168;glycerol transmembrane transporter activity;IDA|GO:0015250;water channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP2		https://hpo.jax.org/app/browse/search?q=AQP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107777	http://www.informatics.jax.org/searchtool/Search.do?query=AQP2&submit=Quick%0D%12047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP2	rs2878771	0.225839	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_intronic	LOC101927318	AQP2(uc001rvn.3:c.*3002G>C)	ENSG00000257588	Na	Na	Na	Na	Na	Na	Het;G>C	459;20|23	Hom;G>C	725;0|24
N	N	-	12	50358054	50358054	A	G	snp	intronic	 	 	 	 	AQP5	Aqp5	ENSG00000161798	aquaporin 5	chr12:50355653-50359464	Aquaporin 5 (AQP5) is a water channel protein.  Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; bronchodilator response; Pulmonary Disease, Chronic Obstructive	Homozygous null mutants exhibit reduced growth on solid food and secrete diminished amounts of hypertonic, viscous saliva.	Passive transport by Aquaporins	GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015670;carbon dioxide transport;IDA|GO:0030157;pancreatic juice secretion;IEP|GO:0034220;ion transmembrane transport;IBA|GO:0042476;odontogenesis;IEP|GO:0046541;saliva secretion;IEA|GO:0048593;camera-type eye morphogenesis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015250;water channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP5		https://hpo.jax.org/app/browse/search?q=AQP5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600442	http://www.informatics.jax.org/searchtool/Search.do?query=AQP5&submit=Quick%0D%10607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP5	rs3736309	0.153355	0	0	1	0	0	intronic	intronic	intronic	AQP5	AQP5	ENSG00000161798	Na	Na	Na	Na	Na	Na	Het;A>G	119;3|5	Hom;A>G	434;0|14
N	N	-	12	50386015	50386015	C	T	snp	intronic	 	 	 	 	RACGAP1	Racgap1	ENSG00000161800	Rac GTPase activating protein 1	chr12:50370706-50426919	This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]	Type 2 Diabetes| edema | rosiglitazone	Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis.	Kinesins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007405;neuroblast proliferation;ISS|GO:0008272;sulfate transport;IDA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030154;cell differentiation;IEA|GO:0032467;positive regulation of cytokinesis;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045995;regulation of embryonic development;ISS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051256;mitotic spindle midzone assembly;IDA|GO:0051301;cell division;IEA|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP	GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0051233;spindle midzone;IDA|GO:0070062;extracellular exosome;IDA|GO:0072686;mitotic spindle;IDA|GO:0097149;centralspindlin complex;IDA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0043014;alpha-tubulin binding;IDA|GO:0043015;gamma-tubulin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048487;beta-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RACGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=604980	http://www.informatics.jax.org/searchtool/Search.do?query=RACGAP1&submit=Quick%0D%10608ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RACGAP1	rs296737	0.692692	0.7048	0.8461	1	0	0	intronic	intronic	intronic	RACGAP1	RACGAP1	ENSG00000161800	Na	Na	Na	Na	Na	Na	Het;C>T	1340;63|70	Hom;C>T	2752;2|103
N	N	-	12	50393372	50393372	G	T	snp	intronic	 	 	 	 	RACGAP1	Racgap1	ENSG00000161800	Rac GTPase activating protein 1	chr12:50370706-50426919	This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]	Type 2 Diabetes| edema | rosiglitazone	Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis.	Kinesins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007405;neuroblast proliferation;ISS|GO:0008272;sulfate transport;IDA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030154;cell differentiation;IEA|GO:0032467;positive regulation of cytokinesis;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045995;regulation of embryonic development;ISS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051256;mitotic spindle midzone assembly;IDA|GO:0051301;cell division;IEA|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP	GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0051233;spindle midzone;IDA|GO:0070062;extracellular exosome;IDA|GO:0072686;mitotic spindle;IDA|GO:0097149;centralspindlin complex;IDA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0043014;alpha-tubulin binding;IDA|GO:0043015;gamma-tubulin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048487;beta-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RACGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=604980	http://www.informatics.jax.org/searchtool/Search.do?query=RACGAP1&submit=Quick%0D%10608ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RACGAP1	rs378943	0.691294	0.7049	0.8454	1	0	0	intronic	intronic	intronic	RACGAP1	RACGAP1	ENSG00000161800	Na	Na	Na	Na	Na	Na	Het;G>T	970;58|47	Hom;G>T	2328;0|87
N	N	-	12	51386529	51386530	AG	A	indel	intronic	 	 	 	 	SLC11A2	Slc11a2	ENSG00000110911	solute carrier family 11 member 2	chr12:51373184-51422349	This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]	tuberculosis; hemochromatosis; Alzheimer's Disease; Tobacco Use Disorder; Abortion, Spontaneous; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a spontaneous mutation exhibit microcytic, hypochromic anemia associated with impaired intestinal iron absorption and erythroblast iron uptake. Mutants have reduced viability and fertility.	Iron uptake and transport	GO:0006778;porphyrin-containing compound metabolic process;IEA|GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006783;heme biosynthetic process;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006826;iron ion transport;IEA|GO:0006828;manganese ion transport;IDA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0007611;learning or memory;IEA|GO:0010039;response to iron ion;IEP|GO:0015684;ferrous iron transport;IDA|GO:0015692;lead ion transport;IDA|GO:0015992;proton transport;IEA|GO:0034755;iron ion transmembrane transport;IEA|GO:0035434;copper ion transmembrane transport;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048821;erythrocyte development;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0060586;multicellular organismal iron ion homeostasis;IMP|GO:0070574;cadmium ion transmembrane transport;IDA|GO:0070627;ferrous iron import;NAS|GO:0071421;manganese ion transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA|GO:1903874;ferrous iron transmembrane transport;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005773;vacuole;IMP|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0009986;cell surface;IEA|GO:0010008;endosome membrane;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031526;brush border membrane;ISS|GO:0031902;late endosome membrane;IDA|GO:0045177;apical part of cell;IDA|GO:0045178;basal part of cell;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070826;paraferritin complex;IDA	GO:0005215;transporter activity;IEA|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005381;iron ion transmembrane transporter activity;TAS|GO:0005384;manganese ion transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0015086;cadmium ion transmembrane transporter activity;IDA|GO:0015087;cobalt ion transmembrane transporter activity;IEA|GO:0015093;ferrous iron transmembrane transporter activity;IDA|GO:0015094;lead ion transmembrane transporter activity;IDA|GO:0015295;solute:proton symporter activity;IDA|GO:0015639;ferrous iron uptake transmembrane transporter activity;IMP|GO:0046870;cadmium ion binding;IDA|GO:0046915;transition metal ion transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC11A2	https://www.uniprot.org/uniprot/P49281	https://hpo.jax.org/app/browse/search?q=SLC11A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600523	http://www.informatics.jax.org/searchtool/Search.do?query=SLC11A2&submit=Quick%0D%4009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC11A2	rs67409672	0	0	0	1	0	0	intronic	intronic	intronic	SLC11A2	SLC11A2	ENSG00000110911	Na	Na	Na	Na	Na	Na	Het;-G	34;1|4	Hom;-G	123;0|5
N	N	-	12	51467510	51467512	GAA	G	indel	intronic	 	 	 	 	CSRNP2	Csrnp2	ENSG00000110925	cysteine and serine rich nuclear protein 2	chr12:51454990-51477447	The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]	longevity	Mice homozygous for a knock-out allele are viable, fertile and healthy and display normal development, hematopoiesis and T cell function.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS	GO:0005634;nucleus;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSRNP2	https://www.uniprot.org/uniprot/Q9H175			http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP2&submit=Quick%0D%4012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP2	rs66520852	0	0	0	1	0	0	intronic	intronic	intronic	CSRNP2	CSRNP2	ENSG00000110925	Na	Na	Na	Na	Na	Na	Het;-AA	32;1|3	Hom;-AA	45;0|3
N	N	-	12	51691149	51691149	A	G	snp	intronic	 	 	 	 	BIN2	Bin2	ENSG00000110934	bridging integrator 2	chr12:51674822-51718452		Tobacco Use Disorder; Longevity	 	Neutrophil degranulation		GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BIN2	https://www.uniprot.org/uniprot/Q9UBW5		https://www.ncbi.nlm.nih.gov/omim/?term=605936	http://www.informatics.jax.org/searchtool/Search.do?query=BIN2&submit=Quick%0D%4014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BIN2	rs3782469	0.469649	0	0	1	0	0	intronic	intronic	intronic	BIN2	BIN2	ENSG00000110934	Na	Na	Na	Na	Na	Na	Het;A>G	121;2|4	Hom;A>G	184;0|6
N	N	-	12	51722311	51722311	C	T	snp	UTR3	*50G>A	 	 	 	CELA1	Cela1	ENSG00000139610	chymotrypsin like elastase family member 1	chr12:51722227-51740463	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]	Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit reduced elastase activity in distal airspace walls, increased elastin fibers in airspace walls, increased wet-to-dry lung weight ratio, and increased lung elastance.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0009791;post-embryonic development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0031017;exocrine pancreas development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048771;tissue remodeling;IEA|GO:0055123;digestive system development;IEA|GO:0060309;elastin catabolic process;IEA|GO:0061113;pancreas morphogenesis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CELA1	https://www.uniprot.org/uniprot/Q9UNI1		https://www.ncbi.nlm.nih.gov/omim/?term=130120	http://www.informatics.jax.org/searchtool/Search.do?query=CELA1&submit=Quick%0D%7906ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELA1	rs7138439	0.622005	0.6326	0.6634	1	0	0	UTR3	UTR3	UTR3	CELA1(NM_001971:c.*50G>A)	CELA1(uc001ryi.1:c.*50G>A)	ENSG00000139610(ENST00000293636:c.*50G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1203;50|59	Hom;C>T	2022;0|77
N	N	-	12	51735022	51735022	A	T	snp	intronic	 	 	 	 	CELA1	Cela1	ENSG00000139610	chymotrypsin like elastase family member 1	chr12:51722227-51740463	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]	Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit reduced elastase activity in distal airspace walls, increased elastin fibers in airspace walls, increased wet-to-dry lung weight ratio, and increased lung elastance.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0009791;post-embryonic development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0031017;exocrine pancreas development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048771;tissue remodeling;IEA|GO:0055123;digestive system development;IEA|GO:0060309;elastin catabolic process;IEA|GO:0061113;pancreas morphogenesis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CELA1	https://www.uniprot.org/uniprot/Q9UNI1		https://www.ncbi.nlm.nih.gov/omim/?term=130120	http://www.informatics.jax.org/searchtool/Search.do?query=CELA1&submit=Quick%0D%7906ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELA1	rs934089	0.494609	0.5214	0.5571	1	0	0	intronic	intronic	intronic	CELA1	CELA1	ENSG00000139610	Na	Na	Na	Na	Na	Na	Het;A>T	686;37|33	Hom;A>T	1726;0|64
N	N	-	12	51740388	51740388	C	A	snp	intronic	 	 	 	 	CELA1	Cela1	ENSG00000139610	chymotrypsin like elastase family member 1	chr12:51722227-51740463	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]	Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit reduced elastase activity in distal airspace walls, increased elastin fibers in airspace walls, increased wet-to-dry lung weight ratio, and increased lung elastance.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0009791;post-embryonic development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0031017;exocrine pancreas development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048771;tissue remodeling;IEA|GO:0055123;digestive system development;IEA|GO:0060309;elastin catabolic process;IEA|GO:0061113;pancreas morphogenesis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CELA1	https://www.uniprot.org/uniprot/Q9UNI1		https://www.ncbi.nlm.nih.gov/omim/?term=130120	http://www.informatics.jax.org/searchtool/Search.do?query=CELA1&submit=Quick%0D%7906ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELA1	rs907354	0.888778	0.9303	0.6922	1	0	0	intronic	intronic	intronic	CELA1	CELA1	ENSG00000139610	Na	Na	Na	Na	Na	Na	Het;C>A	2867;18|125	Hom;C>A	5165;0|195
N	N	-	12	51754629	51754629	A	G	snp	intronic	 	 	 	 	GALNT6	Galnt6	ENSG00000139629	polypeptide N-acetylgalactosaminyltransferase 6	chr12:51745031-51786651	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT6	https://www.uniprot.org/uniprot/Q8NCL4		https://www.ncbi.nlm.nih.gov/omim/?term=605148	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT6&submit=Quick%0D%7913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT6	rs2241545	0.378794	0.2058	0.3460	1	0	0	intronic	intronic	intronic	GALNT6	GALNT6	ENSG00000139629	Na	Na	Na	Na	Na	Na	Het;A>G	1223;61|61	Hom;A>G	2349;0|90
N	N	-	12	51773557	51773557	G	A	snp	synonymous SNV	C9T	L3L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GALNT6	Galnt6	ENSG00000139629	polypeptide N-acetylgalactosaminyltransferase 6	chr12:51745031-51786651	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT6	https://www.uniprot.org/uniprot/Q8NCL4		https://www.ncbi.nlm.nih.gov/omim/?term=605148	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT6&submit=Quick%0D%7913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT6	rs2278216	0.104633	0.0542	0.1135	1	0	0	exonic	exonic	exonic	GALNT6	GALNT6	ENSG00000139629	synonymous SNV	synonymous SNV	unknown	GALNT6:NM_007210:exon3:c.C9T:p.L3L,	GALNT6:uc001ryl.1:exon3:c.C9T:p.L3L,GALNT6:uc001ryk.2:exon2:c.C9T:p.L3L,GALNT6:uc010snh.1:exon3:c.C9T:p.L3L,	UNKNOWN	Het;G>A	281;28|14	Hom;G>A	1006;0|38
N	N	-	12	52294257	52294257	T	C	snp	upstream	 	 	 	 	AC025259.2																		rs706809	0.84345	0	0	1	0	0	intergenic	intergenic	upstream	ANKRD33(dist=8752),ACVRL1(dist=6945)	ANKRD33(dist=8752),ACVRL1(dist=6435)	ENSG00000258021	Na	Na	Na	Na	Na	Na	Het;T>C	683;21|32	Hom;T>C	1878;0|72
N	N	-	12	52315923	52315923	T	C	snp	UTR3	*1246T>C	 	 	 	ACVRL1	Acvrl1	ENSG00000139567	activin A receptor like type 1	chr12:52300692-52317145	This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]	bronchodilator response; cerebral arteriopathy; null; Cholesterol; Telangiectasia, Hereditary Hemorrhagic; Hepatopulmonary Syndrome|Liver Cirrhosis; Heart Diseases|Hyperplasia|Liver Diseases|Telangiectasia, Hereditary Hemorrhagic; hypertension; Type 2 Diabetes| edema | rosiglitazone; Arteriovenous Malformations|Liver Diseases|Telangiectasia, Hereditary Hemorrhagic; arteriovenous dysplasias brain hemorrhage; hemorrhagic telangiectasia, hereditary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins.  Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2.	Signaling by BMP	GO:0001525;angiogenesis;IMP|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001936;regulation of endothelial cell proliferation;TAS|GO:0001937;negative regulation of endothelial cell proliferation;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0001946;lymphangiogenesis;ISS|GO:0001955;blood vessel maturation;TAS|GO:0001974;blood vessel remodeling;ISS|GO:0002043;blood vessel endothelial cell proliferation involved in sprouting angiogenesis;TAS|GO:0003203;endocardial cushion morphogenesis;ISS|GO:0006275;regulation of DNA replication;TAS|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IDA|GO:0007162;negative regulation of cell adhesion;IMP|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0008015;blood circulation;IMP|GO:0008217;regulation of blood pressure;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0010629;negative regulation of gene expression;ISS|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IMP|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0030513;positive regulation of BMP signaling pathway;IDA|GO:0032332;positive regulation of chondrocyte differentiation;TAS|GO:0032924;activin receptor signaling pathway;IEA|GO:0035313;wound healing, spreading of epidermal cells;IMP|GO:0035912;dorsal aorta morphogenesis;ISS|GO:0043535;regulation of blood vessel endothelial cell migration;TAS|GO:0043537;negative regulation of blood vessel endothelial cell migration;IMP|GO:0045602;negative regulation of endothelial cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048514;blood vessel morphogenesis;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0060836;lymphatic endothelial cell differentiation;IMP|GO:0060840;artery development;ISS|GO:0060841;venous blood vessel development;ISS|GO:0061154;endothelial tube morphogenesis;IMP|GO:0061298;retina vasculature development in camera-type eye;ISS|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071773;cellular response to BMP stimulus;IMP|GO:2000279;negative regulation of DNA biosynthetic process;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;NAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0005024;transforming growth factor beta-activated receptor activity;IDA|GO:0005025;transforming growth factor beta receptor activity, type I;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016361;activin receptor activity, type I;IDA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0046332;SMAD binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IDA|GO:0050431;transforming growth factor beta binding;IPI|GO:0098821;BMP receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACVRL1	https://www.uniprot.org/uniprot/P37023	https://hpo.jax.org/app/browse/search?q=ACVRL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601284	http://www.informatics.jax.org/searchtool/Search.do?query=ACVRL1&submit=Quick%0D%7901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVRL1	rs706819	0.699681	0	0	1	0	0	UTR3	UTR3	UTR3	ACVRL1(NM_000020:c.*1246T>C,NM_001077401:c.*1246T>C)	ACVRL1(uc001rzj.3:c.*1246T>C,uc001rzk.3:c.*1246T>C,uc010snm.2:c.*1246T>C)	ENSG00000139567(ENST00000550683:c.*1246T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	537;31|26	Hom;T>C	1255;0|47
N	N	-	12	52565322	52565322	G	T	snp	synonymous SNV	C1254A	P418P	hydrophobic,neutral	hydrophobic,neutral	KRT80	Krt80	ENSG00000167767	keratin 80	chr12:52562780-52585784	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]		 	Formation of the cornified envelope	GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT80			https://www.ncbi.nlm.nih.gov/omim/?term=611161	http://www.informatics.jax.org/searchtool/Search.do?query=KRT80&submit=Quick%0D%12107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT80	rs3741737	0.759784	0.7886	0.8007	1	0	0	exonic	exonic	exonic	KRT80	KRT80	ENSG00000167767	synonymous SNV	synonymous SNV	unknown	KRT80:NM_001081492:exon9:c.C1254A:p.P418P,	KRT80:uc001rzy.3:exon9:c.C1254A:p.P418P,	UNKNOWN	Het;G>T	1198;65|65	Hom;G>T	1776;0|68
N	N	-	12	52574780	52574780	A	G	snp	intronic	 	 	 	 	KRT80	Krt80	ENSG00000167767	keratin 80	chr12:52562780-52585784	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]		 	Formation of the cornified envelope	GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT80			https://www.ncbi.nlm.nih.gov/omim/?term=611161	http://www.informatics.jax.org/searchtool/Search.do?query=KRT80&submit=Quick%0D%12107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT80	rs4762060	0.758786	0.7297	0.7175	1	0	0	intronic	intronic	intronic	KRT80	KRT80	ENSG00000167767	Na	Na	Na	Na	Na	Na	Het;A>G	516;27|26	Hom;A>G	1027;0|40
N	N	-	12	52594339	52594339	G	A	snp	intergenic	 	 	 	 	KRT80	Krt80	ENSG00000167767	keratin 80	chr12:52562780-52585784	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]		 	Formation of the cornified envelope	GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT80			https://www.ncbi.nlm.nih.gov/omim/?term=611161	http://www.informatics.jax.org/searchtool/Search.do?query=KRT80&submit=Quick%0D%12107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT80	rs11170039	0.412141	0	0	1	0	0	intergenic	intergenic	intergenic	KRT80(dist=8555),C12orf80(dist=5026)	KRT80(dist=8555),LOC283403(dist=5026)	ENSG00000167767(dist=8555),ENSG00000257137(dist=5029)	Na	Na	Na	Na	Na	Na	Het;G>A	80;7|6	Hom;G>A	211;0|8
N	N	-	12	52615635	52615635	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00592																		rs6580869	0.433107	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00592	LINC00592	ENSG00000258279	Na	Na	Na	Na	Na	Na	Het;A>G	83;2|3	Hom;A>G	178;0|5
N	N	-	12	52644396	52644396	A	C	snp	ncRNA_exonic	 	 	 	 	KRT87P																		rs12581576	0.358027	0	0	1	0	0	intergenic	UTR3	ncRNA_exonic	KRT7(dist=1687),KRT81(dist=35301)	KRT121P(uc010snr.1:c.*36T>G)	ENSG00000135477	Na	Na	Na	Na	Na	Na	Het;A>C	575;22|27	Hom;A>C	1231;0|49
N	N	-	12	52818504	52818504	T	G	snp	nonsynonymous SNV	A1453C	S485R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	KRT75	Krt75	ENSG00000170454	keratin 75	chr12:52817854-52828309	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]	PSEUDOFOLLICULITIS BARBAE SUSCEPTIBILITY TO	Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita.	Formation of the cornified envelope	GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT75			https://www.ncbi.nlm.nih.gov/omim/?term=609025	http://www.informatics.jax.org/searchtool/Search.do?query=KRT75&submit=Quick%0D%12708ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT75	rs298104	0.642372	0.6439	0.6333	0.23	3	13	exonic	exonic	exonic	KRT75	KRT75	ENSG00000170454	nonsynonymous SNV	nonsynonymous SNV	unknown	KRT75:NM_004693:exon9:c.A1453C:p.S485R,	KRT75:uc001saj.2:exon9:c.A1453C:p.S485R,	UNKNOWN	Het;T>G	851;46|39	Hom;T>G	1771;0|61
N	N	-	12	52913029	52913029	C	T	snp	intronic	 	 	 	 	KRT5	Krt5	ENSG00000186081	keratin 5	chr12:52908359-52914471	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Echocardiography; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Coronary Artery Disease|Melanoma|Skin Neoplasms; epidermolysis bullosa simplex; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction	Mice homozygous for disruptions in this gene die within the first hour after birth.  They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract.	Formation of the cornified envelope	GO:0007010;cytoskeleton organization;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0070268;cornification;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0045095;keratin filament;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT5		https://hpo.jax.org/app/browse/search?q=KRT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148040	http://www.informatics.jax.org/searchtool/Search.do?query=KRT5&submit=Quick%0D%15560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT5	rs607860	0.404553	0	0	1	0	0	intronic	intronic	intronic	KRT5	KRT5	ENSG00000186081	Na	Na	Na	Na	Na	Na	Het;C>T	243;8|12	Hom;C>T	931;1|33
N	N	-	12	53294381	53294381	T	C	snp	synonymous SNV	A765G	L255L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KRT8	Krt8	ENSG00000170421	keratin 8	chr12:53290977-53343738	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]	pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary	Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis.	Formation of the cornified envelope	GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT8		https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148060	http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8	rs8608	0.567492	0.4859	0.5530	1	0	0	exonic	exonic	exonic	KRT8	KRT8	ENSG00000170421	synonymous SNV	synonymous SNV	unknown	KRT8:NM_001256282:exon5:c.A765G:p.L255L,KRT8:NM_001256293:exon5:c.A681G:p.L227L,KRT8:NM_002273:exon4:c.A681G:p.L227L,	KRT8:uc009zmk.1:exon5:c.A765G:p.L255L,KRT8:uc009zml.2:exon5:c.A681G:p.L227L,KRT8:uc009zmm.2:exon5:c.A681G:p.L227L,KRT8:uc001sbd.2:exon4:c.A681G:p.L227L,	UNKNOWN	Het;T>C	914;40|39	Hom;T>C	1812;0|62
N	N	-	12	53295058	53295058	G	C	snp	intronic	 	 	 	 	KRT8	Krt8	ENSG00000170421	keratin 8	chr12:53290977-53343738	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]	pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary	Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis.	Formation of the cornified envelope	GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT8		https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148060	http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8	rs5019800	0.567292	0.4779	0	1	0	0	intronic	intronic	intronic	KRT8	KRT8	ENSG00000170421	Na	Na	Na	Na	Na	Na	Het;G>C	224;14|7	Hom;G>C	782;0|18
N	N	-	12	53295063	53295063	T	C	snp	intronic	 	 	 	 	KRT8	Krt8	ENSG00000170421	keratin 8	chr12:53290977-53343738	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]	pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary	Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis.	Formation of the cornified envelope	GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT8		https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148060	http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8	rs5019799	0.567292	0.4724	0	1	0	0	intronic	intronic	intronic	KRT8	KRT8	ENSG00000170421	Na	Na	Na	Na	Na	Na	Het;T>C	224;14|7	Hom;T>C	782;0|18
N	N	-	12	53295079	53295079	G	A	snp	intronic	 	 	 	 	KRT8	Krt8	ENSG00000170421	keratin 8	chr12:53290977-53343738	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]	pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary	Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis.	Formation of the cornified envelope	GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT8		https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148060	http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8	rs4403881	0.567492	0	0	1	0	0	intronic	intronic	intronic	KRT8	KRT8	ENSG00000170421	Na	Na	Na	Na	Na	Na	Het;G>A	182;14|6	Hom;G>A	771;0|18
N	N	-	12	53295081	53295081	T	G	snp	intronic	 	 	 	 	KRT8	Krt8	ENSG00000170421	keratin 8	chr12:53290977-53343738	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]	pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary	Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis.	Formation of the cornified envelope	GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT8		https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148060	http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8	rs4531558	0.567292	0	0	1	0	0	intronic	intronic	intronic	KRT8	KRT8	ENSG00000170421	Na	Na	Na	Na	Na	Na	Het;T>G	182;14|6	Hom;T>G	771;0|18
N	N	-	12	53295917	53295917	A	G	snp	intronic	 	 	 	 	KRT8	Krt8	ENSG00000170421	keratin 8	chr12:53290977-53343738	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]	pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary	Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis.	Formation of the cornified envelope	GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT8		https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148060	http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8	rs2035875	0.566893	0	0	1	0	0	intronic	intronic	intronic	KRT8	KRT8	ENSG00000170421	Na	Na	Na	Na	Na	Na	Het;A>G	252;19|14	Hom;A>G	830;0|32
N	N	-	12	53452263	53452274	CCAGGTGGCAGG	C	indel	nonframeshift substitution	1259_1262C	 	 	 	TENC1	 																	rs376058712	0.707468	0.5055	0.5245	1	0	0	intronic	exonic	intronic	TNS2	TENC1	ENSG00000111077	Na	nonframeshift substitution	Na	Na	TENC1:uc001sbo.1:exon15:c.1259_1262C,	Na	Het;-CAGGTGGCAGG	1656;47|45	Hom;-CAGGTGGCAGG	2871;0|65
N	N	-	12	53459881	53459881	T	A	snp	intronic	 	 	 	 	SPRYD3	Spryd3	ENSG00000167778	SPRY domain containing 3	chr12:53458388-53473204			 					http://www.genecards.org/index.php?path=/Search/keyword/SPRYD3				http://www.informatics.jax.org/searchtool/Search.do?query=SPRYD3&submit=Quick%0D%12115ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPRYD3	rs10876402	0.54972	0	0	1	0	0	intronic	intronic	intronic	SPRYD3	SPRYD3	ENSG00000167778	Na	Na	Na	Na	Na	Na	Het;T>A	123;4|5	Hom;T>A	235;0|8
N	N	-	12	537828	537828	G	T	snp	intronic	 	 	 	 	CCDC77	Ccdc77	ENSG00000120647	coiled-coil domain containing 77	chr12:498439-551811			 			GO:0005813;centrosome;IDA|GO:0016020;membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC77	https://www.uniprot.org/uniprot/Q9BR77			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC77&submit=Quick%0D%5224ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC77	rs11062934	0.229433	0	0	1	0	0	intronic	intronic	intronic	CCDC77	CCDC77	ENSG00000120647	Na	Na	Na	Na	Na	Na	Het;G>T	169;1|5	Hom;G>T	197;0|5
N	N	-	12	540994	540994	A	G	snp	intronic	 	 	 	 	CCDC77	Ccdc77	ENSG00000120647	coiled-coil domain containing 77	chr12:498439-551811			 			GO:0005813;centrosome;IDA|GO:0016020;membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC77	https://www.uniprot.org/uniprot/Q9BR77			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC77&submit=Quick%0D%5224ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC77	rs7310504	0.796326	0.7563	0.7549	1	0	0	intronic	intronic	intronic	CCDC77	CCDC77	ENSG00000120647	Na	Na	Na	Na	Na	Na	Het;A>G	658;29|28	Hom;A>G	2037;0|72
N	N	-	12	54150818	54150818	A	AG	indel	ncRNA_exonic	 	 	 	 	CISTR																		rs76246638	0.583466	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_intronic	CISTR	CALCOCO1(dist=29511),Mir_544(dist=29217)	ENSG00000260030	Na	Na	Na	Na	Na	Na	Het;+G	923;44|37	Hom;+G	2116;0|67
N	N	-	12	54394497	54394497	C	T	snp	synonymous SNV	C525T	A175A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HOXC9	Hoxc9	ENSG00000180806	homeobox C9	chr12:54388679-54397121	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]		Mice homozygous for disruptions in this gene grow more slowly than normal and develop hunched backs.  Forward transformations seen in vertebrae from L1 and forward to around T10. Abnormalities in the sternum and ribs attachments to the sternum are also seen.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016235;aggresome;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HOXC9			https://www.ncbi.nlm.nih.gov/omim/?term=142971	http://www.informatics.jax.org/searchtool/Search.do?query=HOXC9&submit=Quick%0D%14528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HOXC9	rs2241820	0.578075	0.6053	0.6682	1	0	0	exonic	exonic	exonic	HOXC9	HOXC9	ENSG00000180806	synonymous SNV	synonymous SNV	unknown	HOXC9:NM_006897:exon1:c.C525T:p.A175A,	HOXC9:uc001seq.3:exon1:c.C525T:p.A175A,	UNKNOWN	Het;C>T	436;29|23	Hom;C>T	1580;0|57
N	N	-	12	54452275	54452275	T	G	snp	ncRNA_exonic	 	 	 	 	FLJ12825																		rs1386016	0.66234	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ12825	FLJ12825	ENSG00000248265	Na	Na	Na	Na	Na	Na	Het;T>G	1414;60|65	Hom;T>G	2843;1|103
N	N	-	12	54476237	54476237	A	C	snp	ncRNA_intronic	 	 	 	 	FLJ12825																		rs11170800	0.643171	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FLJ12825	FLJ12825	ENSG00000248265,ENSG00000249388	Na	Na	Na	Na	Na	Na	Het;A>C	400;25|20	Hom;A>C	653;0|24
N	N	-	12	54496006	54496006	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100240734																		rs12308675	0.697085	0	0.7126	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	LOC100240734	FLJ12825	ENSG00000249388	Na	Na	Na	Na	Na	Na	Het;T>C	370;14|15	Hom;T>C	461;0|13
N	N	-	12	54496166	54496166	G	T	snp	nonsynonymous SNV	G145T	A49S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	LOC100240734																		rs3195797	0.690495	0	0.7089	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC100240734	LOC100240734	ENSG00000249388	Na	nonsynonymous SNV	Na	Na	LOC100240734:uc010sos.2:exon1:c.G145T:p.A49S,	Na	Het;G>T	1254;57|57	Hom;G>T	3521;0|125
N	N	-	12	54512383	54512383	A	C	snp	ncRNA_intronic	 	 	 	 	FLJ12825																		rs10876538	0.518371	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FLJ12825	FLJ12825	ENSG00000248265,ENSG00000250432	Na	Na	Na	Na	Na	Na	Het;A>C	310;26|15	Hom;A>C	585;0|20
N	N	-	12	54512554	54512556	TGG	T	indel	ncRNA_exonic	 	 	 	 	FLJ12825																		rs36075486	0.627196	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ12825	FLJ12825	ENSG00000248265	Na	Na	Na	Na	Na	Na	Het;-GG	1894;70|51	Hom;-GG	3788;0|85
N	N	-	12	56220974	56220975	CA	C	indel	intronic	 	 	 	 	DNAJC14	Dnajc14	ENSG00000135392	DnaJ heat shock protein family (Hsp40) member C14	chr12:56214744-56224608			 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/DNAJC14	https://www.uniprot.org/uniprot/Q6Y2X3		https://www.ncbi.nlm.nih.gov/omim/?term=606092	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJC14&submit=Quick%0D%7140ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJC14	rs556233298	0.573882	0	0	1	0	0	intronic	intronic	intronic	DNAJC14	DNAJC14	ENSG00000135392,ENSG00000257390	Na	Na	Na	Na	Na	Na	Het;-A	57;6|6	Hom;-A	92;2|7
N	N	-	12	56228504	56228504	C	G	snp	downstream	 	 	 	 	AX747140																		rs750667	0.451677	0	0	1	0	0	ncRNA_intronic	downstream	ncRNA_intronic	TMEM198B	AX747140,MMP19	ENSG00000182796	Na	Na	Na	Na	Na	Na	Het;C>G	129;1|5	Hom;C>G	285;0|9
N	N	-	12	5638176	5638176	G	A	snp	intergenic	 	 	 	 	NONE																		rs7964390	0.16234	0	0	1	0	0	intergenic	intergenic	intergenic	NTF3(dist=33711),ANO2(dist=33641)	NTF3(dist=33711),ANO2(dist=33641)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	71;4|4	Hom;G>A	324;0|10
N	N	-	12	5638188	5638188	C	T	snp	intergenic	 	 	 	 	NONE																		rs7965263	0.162939	0	0	1	0	0	intergenic	intergenic	intergenic	NTF3(dist=33723),ANO2(dist=33629)	NTF3(dist=33723),ANO2(dist=33629)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	116;5|5	Hom;C>T	429;0|15
N	N	-	12	56564056	56564060	CTTTT	C	indel	ncRNA_intronic	 	 	 	 	AC073896.4																		rs60041436	0.748003	0.7088	0	1	0	0	intronic	intronic	ncRNA_intronic	SMARCC2	SMARCC2	ENSG00000258199	Na	Na	Na	Na	Na	Na	Het;-TTTT	226;3|13	Hom;-TTTT	728;0|17
N	N	-	12	57486647	57486647	A	G	snp	intronic	 	 	 	 	NAB2	Nab2	ENSG00000166886	NGFI-A binding protein 2	chr12:57482677-57489259	This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Immunoglobulin E; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma	Homozygous null mice are viable and fertile with normal myelination.		GO:0001958;endochondral ossification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007399;nervous system development;TAS|GO:0008283;cell proliferation;TAS|GO:0014037;Schwann cell differentiation;IEA|GO:0016480;negative regulation of transcription from RNA polymerase III promoter;IDA|GO:0042552;myelination;IEA|GO:0045682;regulation of epidermis development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAB2			https://www.ncbi.nlm.nih.gov/omim/?term=602381	http://www.informatics.jax.org/searchtool/Search.do?query=NAB2&submit=Quick%0D%11894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAB2	rs324019	0.567492	0.6406	0	1	0	0	intronic	intronic	intronic	NAB2	NAB2	ENSG00000166886	Na	Na	Na	Na	Na	Na	Het;A>G	275;5|11	Hom;A>G	303;0|10
N	N	-	12	57871555	57871555	A	G	snp	unknown	 	 	 	 	ARHGAP9	Arhgap9	ENSG00000123329	Rho GTPase activating protein 9	chr12:57866038-57882597	This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina	 	Neutrophil degranulation	GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9	https://www.uniprot.org/uniprot/Q9BRR9		https://www.ncbi.nlm.nih.gov/omim/?term=610576	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9	rs3825080	0.610823	0	0.8060	0.25	2	8	intronic	intronic	exonic	ARHGAP9	ARHGAP9	ENSG00000123329	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	110;3|4	Hom;A>G	209;0|6
N	N	-	12	58015494	58015494	G	A	snp	nonsynonymous SNV	G577A	A193T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SLC26A10	Slc26a10	ENSG00000135502	solute carrier family 26 member 10	chr12:58013310-58019934			 		GO:0006810;transport;IEA|GO:0008272;sulfate transport;IEA|GO:0015701;bicarbonate transport;IBA|GO:0019532;oxalate transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005254;chloride channel activity;IBA|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0015106;bicarbonate transmembrane transporter activity;IBA|GO:0015116;sulfate transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0015301;anion:anion antiporter activity;IBA|GO:0019531;oxalate transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC26A10	https://www.uniprot.org/uniprot/Q8NG04			http://www.informatics.jax.org/searchtool/Search.do?query=SLC26A10&submit=Quick%0D%7168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC26A10	rs923828	0.265176	0.3501	0.4373	0.58	7	12	exonic	exonic	exonic	SLC26A10	SLC26A10	ENSG00000135502	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC26A10:NM_133489:exon4:c.G577A:p.A193T,	SLC26A10:uc001spe.3:exon4:c.G577A:p.A193T,	UNKNOWN	Het;G>A	714;29|34	Hom;G>A	2251;2|87
N	N	-	12	58026001	58026001	G	A	snp	nonsynonymous SNV	C146T	P49L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	B4GALNT1	B4galnt1	ENSG00000135454	beta-1,4-N-acetyl-galactosaminyltransferase 1	chr12:58017193-58027138	GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]	diabetes, type 1 ; Autoimmune Diseases	Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules.	Glycosphingolipid metabolism	GO:0001574;ganglioside biosynthetic process;IMP|GO:0005975;carbohydrate metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0019915;lipid storage;IEA|GO:0030259;lipid glycosylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0003947;(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity;TAS|GO:0008376;acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT1	https://www.uniprot.org/uniprot/Q00973	https://hpo.jax.org/app/browse/search?q=B4GALNT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601873	http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT1&submit=Quick%0D%7159ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT1	rs2307095	0.272364	0	0.3336	1	0	0	intronic	exonic	intronic	B4GALNT1	B4GALNT1	ENSG00000135454	Na	nonsynonymous SNV	Na	Na	B4GALNT1:uc010srw.1:exon1:c.C146T:p.P49L,	Na	Het;G>A	77;7|4	Hom;G>A	325;0|12
N	N	-	12	58157988	58157988	A	G	snp	intronic	 	 	 	 	CYP27B1	Cyp27b1	ENSG00000111012	cytochrome P450 family 27 subfamily B member 1	chr12:58156117-58162769	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; Heart Failure|Hypertension; diabetes, type 1; diabetes, type 2; Addison's disease; Graves' disease; diabetic nephropathy; Diabetes, Gestational|Vitamin D Deficiency; Asthma|; esophageal adenocarcinoma; Calcinosis|Coronary Artery Disease; prostate cancer; chronic obstructive pulmonary disease; lung cancer; Colonic Neoplasms|; Bone Mineral Density; null; Tuberculosis, Pulmonary; Graves Disease|Hashimoto Disease|Thyroiditis, Autoimmune; Acquired Immunodeficiency Syndrome|Disease Progression; Sarcoidosis; Colonic Neoplasms; diabetes, type 1; Addison's disease; Graves' disease; thyroiditis, chronic lymphocytic; epithelial ovarian cancer ; Multiple Sclerosis; multiple sclerosis	Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in infertility.	Vitamins	GO:0006766;vitamin metabolic process;TAS|GO:0006816;calcium ion transport;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010956;negative regulation of calcidiol 1-monooxygenase activity;IDA|GO:0010980;positive regulation of vitamin D 24-hydroxylase activity;IDA|GO:0030282;bone mineralization;IEP|GO:0030308;negative regulation of cell growth;IMP|GO:0030500;regulation of bone mineralization;IMP|GO:0032496;response to lipopolysaccharide;IDA|GO:0033280;response to vitamin D;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0036378;calcitriol biosynthetic process from calciol;IDA|GO:0042359;vitamin D metabolic process;TAS|GO:0042369;vitamin D catabolic process;IEA|GO:0043627;response to estrogen;IEP|GO:0045618;positive regulation of keratinocyte differentiation;IMP|GO:0046697;decidualization;IEP|GO:0055074;calcium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0070314;G1 to G0 transition;IMP|GO:0070564;positive regulation of vitamin D receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004498;calcidiol 1-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP27B1	https://www.uniprot.org/uniprot/O15528	https://hpo.jax.org/app/browse/search?q=CYP27B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609506	http://www.informatics.jax.org/searchtool/Search.do?query=CYP27B1&submit=Quick%0D%4021ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP27B1	rs4646536	0.409545	0.3027	0.3815	1	0	0	intronic	intronic	intronic	CYP27B1	CYP27B1	ENSG00000111012	Na	Na	Na	Na	Na	Na	Het;A>G	800;43|37	Hom;A>G	2849;2|103
N	N	-	12	58162739	58162739	A	G	snp	unknown	 	 	 	 	CYP27B1	Cyp27b1	ENSG00000111012	cytochrome P450 family 27 subfamily B member 1	chr12:58156117-58162769	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; Heart Failure|Hypertension; diabetes, type 1; diabetes, type 2; Addison's disease; Graves' disease; diabetic nephropathy; Diabetes, Gestational|Vitamin D Deficiency; Asthma|; esophageal adenocarcinoma; Calcinosis|Coronary Artery Disease; prostate cancer; chronic obstructive pulmonary disease; lung cancer; Colonic Neoplasms|; Bone Mineral Density; null; Tuberculosis, Pulmonary; Graves Disease|Hashimoto Disease|Thyroiditis, Autoimmune; Acquired Immunodeficiency Syndrome|Disease Progression; Sarcoidosis; Colonic Neoplasms; diabetes, type 1; Addison's disease; Graves' disease; thyroiditis, chronic lymphocytic; epithelial ovarian cancer ; Multiple Sclerosis; multiple sclerosis	Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in infertility.	Vitamins	GO:0006766;vitamin metabolic process;TAS|GO:0006816;calcium ion transport;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010956;negative regulation of calcidiol 1-monooxygenase activity;IDA|GO:0010980;positive regulation of vitamin D 24-hydroxylase activity;IDA|GO:0030282;bone mineralization;IEP|GO:0030308;negative regulation of cell growth;IMP|GO:0030500;regulation of bone mineralization;IMP|GO:0032496;response to lipopolysaccharide;IDA|GO:0033280;response to vitamin D;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0036378;calcitriol biosynthetic process from calciol;IDA|GO:0042359;vitamin D metabolic process;TAS|GO:0042369;vitamin D catabolic process;IEA|GO:0043627;response to estrogen;IEP|GO:0045618;positive regulation of keratinocyte differentiation;IMP|GO:0046697;decidualization;IEP|GO:0055074;calcium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0070314;G1 to G0 transition;IMP|GO:0070564;positive regulation of vitamin D receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004498;calcidiol 1-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP27B1	https://www.uniprot.org/uniprot/O15528	https://hpo.jax.org/app/browse/search?q=CYP27B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609506	http://www.informatics.jax.org/searchtool/Search.do?query=CYP27B1&submit=Quick%0D%4021ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP27B1	rs703842	0.426318	0.3191	0.3929	1	0	0	UTR3	UTR3	exonic	METTL1(NM_023033:c.*218T>C,NM_005371:c.*40T>C)	METTL1(uc010ssd.2:c.*40T>C,uc009zqc.3:c.*218T>C)	ENSG00000111012	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	511;26|25	Hom;A>G	858;0|32
N	N	-	12	58165085	58165085	C	T	snp	intronic	 	 	 	 	METTL1	Mettl1	ENSG00000037897	methyltransferase like 1	chr12:58162254-58166576	This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]	bladder cancer; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; multiple sclerosis; Hypercalcemia|Hypercalciuria	 	tRNA modification in the nucleus and cytosol	GO:0006400;tRNA modification;IEA|GO:0008033;tRNA processing;IEA|GO:0032259;methylation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0043527;tRNA methyltransferase complex;IBA	GO:0000049;tRNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008176;tRNA (guanine-N7-)-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METTL1	https://www.uniprot.org/uniprot/Q9UBP6		https://www.ncbi.nlm.nih.gov/omim/?term=604466	http://www.informatics.jax.org/searchtool/Search.do?query=METTL1&submit=Quick%0D%794ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METTL1	rs10877013	0.415136	0.3029	0.3822	1	0	0	intronic	intronic	intronic	METTL1	METTL1	ENSG00000037897	Na	Na	Na	Na	Na	Na	Het;C>T	89;8|5	Hom;C>T	639;0|23
N	N	-	12	58166403	58166403	T	G	snp	UTR5	-105T>G	 	 	 	METTL21B	Mettl21b																	rs2291617	0.376597	0	0	1	0	0	UTR5	UTR5	UTR5	METTL21B(NM_015433:c.-105T>G,NM_206914:c.-105T>G)	METTL21B(uc001sqf.3:c.-105T>G,uc001sqg.3:c.-105T>G)	ENSG00000037897(ENST00000324871:c.-537A>C),ENSG00000123427(ENST00000300209:c.-105T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	39;4|2	Hom;T>G	402;0|11
N	N	-	12	58174306	58174306	T	C	snp	synonymous SNV	T558C	H186H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	METTL21B	Mettl21b																	rs923829	0.404153	0.2901	0.3789	1	0	0	exonic	exonic	exonic	METTL21B	METTL21B	ENSG00000123427	synonymous SNV	synonymous SNV	unknown	METTL21B:NM_015433:exon3:c.T558C:p.H186H,	METTL21B:uc001sqg.3:exon3:c.T558C:p.H186H,	UNKNOWN	Het;T>C	950;45|43	Hom;T>C	2860;0|102
N	N	-	12	58176614	58176614	T	C	snp	synonymous SNV	T30C	F10F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	TSFM	Tsfm	ENSG00000123297	Ts translation elongation factor, mitochondrial	chr12:58176372-58201854	This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial translation elongation	GO:0006412;translation;IEA|GO:0006414;translational elongation;TAS|GO:0032784;regulation of DNA-templated transcription, elongation;TAS|GO:0070125;mitochondrial translational elongation;IBA|GO:0070129;regulation of mitochondrial translation;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;IBA	GO:0003723;RNA binding;IDA|GO:0003746;translation elongation factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSFM	https://www.uniprot.org/uniprot/P43897	https://hpo.jax.org/app/browse/search?q=TSFM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604723	http://www.informatics.jax.org/searchtool/Search.do?query=TSFM&submit=Quick%0D%5507ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSFM	rs10747783	0.363019	0.2467	0.4674	1	0	0	exonic	exonic	exonic	TSFM	TSFM	ENSG00000123297	synonymous SNV	synonymous SNV	unknown	TSFM:NM_005726:exon1:c.T30C:p.F10F,TSFM:NM_001172695:exon1:c.T30C:p.F10F,TSFM:NM_001172697:exon1:c.T30C:p.F10F,TSFM:NM_001172696:exon1:c.T30C:p.F10F,	TSFM:uc021qzq.1:exon1:c.T30C:p.F10F,TSFM:uc001sqi.3:exon1:c.T30C:p.F10F,TSFM:uc001sqh.3:exon1:c.T30C:p.F10F,TSFM:uc010ssf.2:exon1:c.T30C:p.F10F,	UNKNOWN	Het;T>C	1213;54|60	Hom;T>C	3415;0|128
N	N	-	12	58193448	58193448	T	C	snp	intronic	 	 	 	 	AVIL	Avil	ENSG00000135407	advillin	chr12:58191159-58212487	The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]		Homozygotes null mice show partial embryonic lethality before E10.5, but surviving mice are fertile and exhibit no abnormal behavior into adult.  The regenerative axon growth and remodeling of sensory nerves are abnormal in homozygous null mice.		GO:0007010;cytoskeleton organization;IEA|GO:0007399;nervous system development;TAS|GO:0010975;regulation of neuron projection development;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0051693;actin filament capping;IEA|GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS	GO:0003779;actin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AVIL	https://www.uniprot.org/uniprot/O75366		https://www.ncbi.nlm.nih.gov/omim/?term=613397	http://www.informatics.jax.org/searchtool/Search.do?query=AVIL&submit=Quick%0D%7143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AVIL	rs11172344	0.403754	0	0	1	0	0	intronic	intronic	intronic	AVIL,TSFM	AVIL,TSFM	ENSG00000123297,ENSG00000135407	Na	Na	Na	Na	Na	Na	Het;T>C	87;1|3	Hom;T>C	272;0|8
N	N	-	12	58196447	58196447	G	A	snp	UTR3	*33G>A	 	 	 	TSFM	Tsfm	ENSG00000123297	Ts translation elongation factor, mitochondrial	chr12:58176372-58201854	This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial translation elongation	GO:0006412;translation;IEA|GO:0006414;translational elongation;TAS|GO:0032784;regulation of DNA-templated transcription, elongation;TAS|GO:0070125;mitochondrial translational elongation;IBA|GO:0070129;regulation of mitochondrial translation;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;IBA	GO:0003723;RNA binding;IDA|GO:0003746;translation elongation factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSFM	https://www.uniprot.org/uniprot/P43897	https://hpo.jax.org/app/browse/search?q=TSFM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604723	http://www.informatics.jax.org/searchtool/Search.do?query=TSFM&submit=Quick%0D%5507ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSFM	rs10783847	0.404353	0	0.4730	1	0	0	UTR3	UTR3	UTR3	TSFM(NM_001172697:c.*33G>A)	TSFM(uc021qzq.1:c.*33G>A)	ENSG00000123297(ENST00000543727:c.*33G>A,ENST00000550559:c.*79G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	929;30|41	Hom;G>A	1749;0|67
N	N	-	12	58196528	58196528	G	A	snp	UTR3	*114G>A	 	 	 	TSFM	Tsfm	ENSG00000123297	Ts translation elongation factor, mitochondrial	chr12:58176372-58201854	This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial translation elongation	GO:0006412;translation;IEA|GO:0006414;translational elongation;TAS|GO:0032784;regulation of DNA-templated transcription, elongation;TAS|GO:0070125;mitochondrial translational elongation;IBA|GO:0070129;regulation of mitochondrial translation;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;IBA	GO:0003723;RNA binding;IDA|GO:0003746;translation elongation factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSFM	https://www.uniprot.org/uniprot/P43897	https://hpo.jax.org/app/browse/search?q=TSFM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604723	http://www.informatics.jax.org/searchtool/Search.do?query=TSFM&submit=Quick%0D%5507ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSFM	rs10783848	0.403754	0	0	1	0	0	UTR3	UTR3	UTR3	TSFM(NM_001172697:c.*114G>A)	TSFM(uc021qzq.1:c.*114G>A)	ENSG00000123297(ENST00000543727:c.*114G>A,ENST00000550559:c.*160G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	110;6|5	Hom;G>A	395;0|14
N	N	-	12	58481771	58481771	C	T	snp	ncRNA_exonic	 	 	 	 	LINC02403																		rs2733452	0.977436	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	XRCC6BP1(dist=130719),LOC101927653(dist=477971)	XRCC6BP1(dist=130719),AK093124(dist=477972)	ENSG00000257541	Na	Na	Na	Na	Na	Na	Het;C>T	1155;47|57	Hom;C>T	2376;0|89
N	N	-	12	58481920	58481920	C	CTG	indel	ncRNA_intronic	 	 	 	 	LINC02403																		rs10696148	0.977037	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	XRCC6BP1(dist=130868),LOC101927653(dist=477822)	XRCC6BP1(dist=130868),AK093124(dist=477823)	ENSG00000257541	Na	Na	Na	Na	Na	Na	Het;+TG	1636;44|43	Hom;+TG	4532;0|99
N	N	-	12	58482118	58482118	T	TAA	indel	ncRNA_intronic	 	 	 	 	LINC02403																		rs35398765	0.976238	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	XRCC6BP1(dist=131066),LOC101927653(dist=477624)	XRCC6BP1(dist=131066),AK093124(dist=477625)	ENSG00000257541	Na	Na	Na	Na	Na	Na	Het;+AA	377;24|17	Hom;+AA	1009;1|30
N	N	-	12	58482416	58482424	TAAAGGACC	T	indel	ncRNA_intronic	 	 	 	 	LINC02403																		rs11276788	0.962859	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	XRCC6BP1(dist=131364),LOC101927653(dist=477318)	XRCC6BP1(dist=131364),AK093124(dist=477319)	ENSG00000257541	Na	Na	Na	Na	Na	Na	Het;-AAAGGACC	56;11|3	Hom;-AAAGGACC	1233;0|29
N	N	-	12	60083096	60083096	A	T	snp	intronic	 	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs9325168	0.121006	0	0	1	0	0	intronic	intronic	intronic	SLC16A7	SLC16A7	ENSG00000118596	Na	Na	Na	Na	Na	Na	Het;A>T	832;36|41	Hom;A>T	1900;2|71
N	N	-	12	60165271	60165271	A	G	snp	intronic	 	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs2711659	0.468051	0	0	1	0	0	intronic	intronic	intronic	SLC16A7	SLC16A7	ENSG00000118596	Na	Na	Na	Na	Na	Na	Het;A>G	69;1|4	Hom;A>G	290;0|8
N	N	-	12	60169265	60169265	G	A	snp	intronic	 	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs12718000	0.131589	0.1302	0.1075	1	0	0	intronic	intronic	intronic	SLC16A7	SLC16A7	ENSG00000118596	Na	Na	Na	Na	Na	Na	Het;G>A	697;28|31	Hom;G>A	2290;0|80
N	N	-	12	60173406	60173406	C	T	snp	synonymous SNV	C1086T	N362N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs3763979	0.0800719	0.0774	0.0883	1	0	0	exonic	exonic	exonic	SLC16A7	SLC16A7	ENSG00000118596	synonymous SNV	synonymous SNV	unknown	SLC16A7:NM_001270622:exon6:c.C1383T:p.N461N,SLC16A7:NM_004731:exon5:c.C1383T:p.N461N,SLC16A7:NM_001270623:exon6:c.C1383T:p.N461N,	SLC16A7:uc009zqi.4:exon7:c.C1086T:p.N362N,SLC16A7:uc001sqs.4:exon6:c.C1383T:p.N461N,SLC16A7:uc010ssi.3:exon7:c.C1086T:p.N362N,SLC16A7:uc001sqt.4:exon6:c.C1383T:p.N461N,SLC16A7:uc001squ.4:exon5:c.C1383T:p.N461N,	UNKNOWN	Het;C>T	820;55|41	Hom;C>T	2878;2|107
N	N	-	12	60173888	60173888	G	A	snp	UTR3	*428G>A	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs4432061	0.0796725	0	0	1	0	0	UTR3	UTR3	UTR3	SLC16A7(NM_001270623:c.*428G>A,NM_001270622:c.*428G>A,NM_004731:c.*428G>A)	SLC16A7(uc001sqs.4:c.*428G>A,uc001sqt.4:c.*428G>A,uc009zqi.4:c.*428G>A,uc010ssi.3:c.*428G>A,uc001squ.4:c.*428G>A)	ENSG00000118596(ENST00000552432:c.*428G>A,ENST00000261187:c.*428G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1521;98|74	Hom;G>A	5050;0|180
N	N	-	12	60175065	60175065	C	CATT	indel	UTR3	*1605C>CATT	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs10688263	0.179912	0	0	1	0	0	UTR3	UTR3	UTR3	SLC16A7(NM_001270623:c.*1605C>CATT,NM_001270622:c.*1605C>CATT,NM_004731:c.*1605C>CATT)	SLC16A7(uc001sqs.4:c.*1605C>CATT,uc001sqt.4:c.*1605C>CATT,uc009zqi.4:c.*1605C>CATT,uc010ssi.3:c.*1605C>CATT,uc001squ.4:c.*1605C>CATT)	ENSG00000118596(ENST00000261187:c.*1605C>CATT)	Na	Na	Na	Na	Na	Na	Het;+ATT	1106;35|30	Hom;+ATT	3263;2|74
N	N	-	12	60175686	60175686	A	ATT	indel	UTR3	*2226A>ATT	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs35950894	0.0792732	0	0	1	0	0	UTR3	UTR3	UTR3	SLC16A7(NM_001270623:c.*2226A>ATT,NM_001270622:c.*2226A>ATT,NM_004731:c.*2226A>ATT)	SLC16A7(uc001sqs.4:c.*2226A>ATT,uc001sqt.4:c.*2226A>ATT,uc009zqi.4:c.*2226A>ATT,uc010ssi.3:c.*2226A>ATT,uc001squ.4:c.*2226A>ATT)	ENSG00000118596(ENST00000261187:c.*2226A>ATT)	Na	Na	Na	Na	Na	Na	Het;+TT	2718;55|73	Hom;+TT	5190;1|124
N	N	-	12	60176579	60176579	A	C	snp	UTR3	*3119A>C	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs10877338	0.455871	0	0	1	0	0	UTR3	UTR3	downstream	SLC16A7(NM_001270623:c.*3119A>C,NM_001270622:c.*3119A>C,NM_004731:c.*3119A>C)	SLC16A7(uc001sqs.4:c.*3119A>C,uc001sqt.4:c.*3119A>C,uc009zqi.4:c.*3119A>C,uc010ssi.3:c.*3119A>C,uc001squ.4:c.*3119A>C)	ENSG00000118596	Na	Na	Na	Na	Na	Na	Het;A>C	3406;135|147	Hom;A>C	7907;1|279
N	N	-	12	60178057	60178057	C	T	snp	UTR3	*4597C>T	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs7971727	0.0824681	0	0	1	0	0	UTR3	UTR3	intergenic	SLC16A7(NM_001270623:c.*4597C>T,NM_001270622:c.*4597C>T,NM_004731:c.*4597C>T)	SLC16A7(uc001sqs.4:c.*4597C>T,uc001sqt.4:c.*4597C>T,uc009zqi.4:c.*4597C>T,uc010ssi.3:c.*4597C>T,uc001squ.4:c.*4597C>T)	ENSG00000118596(dist=1662),ENSG00000237176(dist=27826)	Na	Na	Na	Na	Na	Na	Het;C>T	408;16|17	Hom;C>T	973;1|33
N	N	-	12	60178940	60178940	C	T	snp	UTR3	*5480C>T	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs6581273	0.182907	0	0	1	0	0	UTR3	UTR3	intergenic	SLC16A7(NM_001270623:c.*5480C>T,NM_001270622:c.*5480C>T,NM_004731:c.*5480C>T)	SLC16A7(uc001sqs.4:c.*5480C>T,uc001sqt.4:c.*5480C>T,uc009zqi.4:c.*5480C>T,uc010ssi.3:c.*5480C>T,uc001squ.4:c.*5480C>T)	ENSG00000118596(dist=2545),ENSG00000237176(dist=26943)	Na	Na	Na	Na	Na	Na	Het;C>T	926;51|44	Hom;C>T	3223;0|115
N	N	-	12	60180964	60180964	G	A	snp	UTR3	*7504G>A	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs10784000	0.735224	0	0	1	0	0	UTR3	UTR3	intergenic	SLC16A7(NM_001270623:c.*7504G>A,NM_001270622:c.*7504G>A,NM_004731:c.*7504G>A)	SLC16A7(uc001sqs.4:c.*7504G>A,uc001sqt.4:c.*7504G>A,uc009zqi.4:c.*7504G>A,uc010ssi.3:c.*7504G>A,uc001squ.4:c.*7504G>A)	ENSG00000118596(dist=4569),ENSG00000237176(dist=24919)	Na	Na	Na	Na	Na	Na	Het;G>A	799;43|39	Hom;G>A	3040;0|114
N	N	-	12	60183205	60183205	G	A	snp	UTR3	*9745G>A	 	 	 	SLC16A7	Slc16a7	ENSG00000118596	solute carrier family 16 member 7	chr12:59989848-60176395	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cholesterol; Cardiomegaly; Body Weight Changes; Cholesterol, LDL; Triglycerides; Cholesterol, HDL; Tobacco Use Disorder; kidney aging; Fibrinogen; Respiratory Function Tests	 	Proton-coupled monocarboxylate transport	GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0035873;lactate transmembrane transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1901475;pyruvate transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005477;pyruvate secondary active transmembrane transporter activity;TAS|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0050833;pyruvate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A7	https://www.uniprot.org/uniprot/O60669		https://www.ncbi.nlm.nih.gov/omim/?term=603654	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A7&submit=Quick%0D%4994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A7	rs35397369	0.0824681	0	0	1	0	0	UTR3	UTR3	intergenic	SLC16A7(NM_001270623:c.*9745G>A,NM_001270622:c.*9745G>A,NM_004731:c.*9745G>A)	SLC16A7(uc001sqs.4:c.*9745G>A,uc001sqt.4:c.*9745G>A,uc009zqi.4:c.*9745G>A,uc010ssi.3:c.*9745G>A,uc001squ.4:c.*9745G>A)	ENSG00000118596(dist=6810),ENSG00000237176(dist=22678)	Na	Na	Na	Na	Na	Na	Het;G>A	925;53|42	Hom;G>A	1690;0|61
N	N	-	12	6092562	6092562	G	A	snp	intronic	 	 	 	 	VWF	Vwf	ENSG00000110799	von Willebrand factor	chr12:6058040-6233936	This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]	diabetes, type 2; atherosclerosis; von Willebrand's factor levels; Alzheimer's disease ; Coronary Heart Disease; Glomerulonephritis, IGA; Body Height; Heart Diseases|Inflammation|Myocardial Infarction; von Willebrand disease type 2N; proliferative retinopathy; Thrombosis; type 1 von Willebrand disease; Hemorrhage|von Willebrand Diseases; coronary disease; atherosclerosis, coronary; schizophrenia; schizoaffective disorder; bipolar disorder; atherosclerosis, coronary myocardial infarct; reduced levels of von Willebrand factor messenger RNA; plasma vWF; thrombosis; null; von Willebrand Disease|von Willebrand Diseases; von Willebrand factor; Hypertension|Obesity; von Willebrand factor levels; von Willebrand's Disease; dominant type 1 von Willebrand's disease; normal variation; stroke; Myocardial Infarction; myocardial infarction; stroke, ischemic; atherosclerosis, coronary; diabetes, type 2; blood pressure, arterial hypertension; Pre-Eclampsia; Hyperparathyroidism, Secondary; nephropathy; Platelet Count; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; retinopathy, diabetic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; von Willebrand factor binding; von Willebrand Disease; thyroid cancer; Brain Ischemia|Stroke|Vascular Diseases; Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chronic renal failure|Kidney Failure, Chronic; myocardial infarction; von Willebrand Diseases; thromboembolism, venous; Cushing Syndrome; Type 2 Diabetes| edema | rosiglitazone; Cardiovascular Diseases; Hepatopulmonary Syndrome|Liver Cirrhosis	Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood.	Platelet Aggregation (Plug Formation)	GO:0002576;platelet degranulation;TAS|GO:0007155;cell adhesion;IDA|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0009611;response to wounding;TAS|GO:0030168;platelet activation;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0031589;cell-substrate adhesion;IDA|GO:0051260;protein homooligomerization;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0031012;extracellular matrix;IDA|GO:0031091;platelet alpha granule;NAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0033093;Weibel-Palade body;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IDA|GO:0002020;protease binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0019865;immunoglobulin binding;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VWF	https://www.uniprot.org/uniprot/P04275	https://hpo.jax.org/app/browse/search?q=VWF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613160	http://www.informatics.jax.org/searchtool/Search.do?query=VWF&submit=Quick%0D%3993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VWF	rs2192205	0.110823	0	0	1	0	0	intronic	intronic	intronic	VWF	VWF	ENSG00000110799	Na	Na	Na	Na	Na	Na	Het;G>A	96;6|4	Hom;G>A	126;0|4
N	N	-	12	62628188	62628188	C	T	snp	ncRNA_exonic	 	 	 	 	KLF17P1																		rs73135204	0.077476	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	FAM19A2(dist=41568),USP15(dist=25933)	FAM19A2	ENSG00000258316	Na	Na	Na	Na	Na	Na	Het;C>T	54;16|6	Hom;C>T	465;0|19
N	N	-	12	62628402	62628402	C	T	snp	ncRNA_exonic	 	 	 	 	KLF17P1																		rs11615656	0.0593051	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	FAM19A2(dist=41782),USP15(dist=25719)	FAM19A2	ENSG00000258316	Na	Na	Na	Na	Na	Na	Het;C>T	315;30|16	Hom;C>T	656;0|22
N	N	-	12	62628558	62628558	G	T	snp	ncRNA_exonic	 	 	 	 	KLF17P1																		rs73135207	0.0772764	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	FAM19A2(dist=41938),USP15(dist=25563)	FAM19A2	ENSG00000258316	Na	Na	Na	Na	Na	Na	Het;G>T	296;18|15	Hom;G>T	1087;0|41
N	N	-	12	62628820	62628820	T	C	snp	ncRNA_exonic	 	 	 	 	KLF17P1																		rs11174386	0.236621	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	FAM19A2(dist=42200),USP15(dist=25301)	FAM19A2	ENSG00000258316	Na	Na	Na	Na	Na	Na	Het;T>C	167;3|8	Hom;T>C	277;0|10
N	N	-	12	62696599	62696599	C	T	snp	synonymous SNV	C246T	H82H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	USP15	Usp15	ENSG00000135655	ubiquitin specific peptidase 15	chr12:62654119-62811211	This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]	Tobacco Use Disorder	Mice homozygous for a knock-out allele or ENU induced allele exhibit resistance to pathological neuroinflammation.	Ub-specific processing proteases	GO:0000266;mitochondrial fission;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007283;spermatogenesis;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030509;BMP signaling pathway;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;IDA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0003824;catalytic activity;IEA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005160;transforming growth factor beta receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IPI|GO:0046332;SMAD binding;IPI|GO:0061649;ubiquitinated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USP15	https://www.uniprot.org/uniprot/Q9Y4E8		https://www.ncbi.nlm.nih.gov/omim/?term=604731	http://www.informatics.jax.org/searchtool/Search.do?query=USP15&submit=Quick%0D%7198ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP15	rs11174420	0.31849	0.3583	0.2863	1	0	0	exonic	exonic	exonic	USP15	USP15	ENSG00000135655	synonymous SNV	synonymous SNV	unknown	USP15:NM_001252079:exon3:c.C246T:p.H82H,USP15:NM_001252078:exon3:c.C246T:p.H82H,USP15:NM_006313:exon3:c.C246T:p.H82H,	USP15:uc001src.2:exon3:c.C246T:p.H82H,USP15:uc001sra.3:exon3:c.C246T:p.H82H,USP15:uc010ssk.2:exon3:c.C246T:p.H82H,USP15:uc010ssj.2:exon3:c.C246T:p.H82H,USP15:uc001srb.2:exon3:c.C246T:p.H82H,	UNKNOWN	Het;C>T	323;10|16	Hom;C>T	1110;0|44
N	N	-	12	62715412	62715417	CTGTAT	C	indel	intronic	 	 	 	 	USP15	Usp15	ENSG00000135655	ubiquitin specific peptidase 15	chr12:62654119-62811211	This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]	Tobacco Use Disorder	Mice homozygous for a knock-out allele or ENU induced allele exhibit resistance to pathological neuroinflammation.	Ub-specific processing proteases	GO:0000266;mitochondrial fission;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007283;spermatogenesis;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030509;BMP signaling pathway;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;IDA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0003824;catalytic activity;IEA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005160;transforming growth factor beta receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IPI|GO:0046332;SMAD binding;IPI|GO:0061649;ubiquitinated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USP15	https://www.uniprot.org/uniprot/Q9Y4E8		https://www.ncbi.nlm.nih.gov/omim/?term=604731	http://www.informatics.jax.org/searchtool/Search.do?query=USP15&submit=Quick%0D%7198ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP15	rs111666891	0.282947	0.3214	0.2793	1	0	0	intronic	intronic	intronic	USP15	USP15	ENSG00000135655	Na	Na	Na	Na	Na	Na	Het;-TGTAT	1282;47|36	Hom;-TGTAT	2600;0|60
N	N	-	12	63156655	63156655	C	T	snp	intronic	 	 	 	 	PPM1H	Ppm1h	ENSG00000111110	protein phosphatase, Mg2+/Mn2+ dependent 1H	chr12:63037762-63328817		Body Mass Index; Body Weight; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Triglycerides; ADHD; Heart Rate; Body Weights and Measures; Tobacco Use Disorder	 		GO:0006470;protein dephosphorylation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPM1H	https://www.uniprot.org/uniprot/Q9ULR3		https://www.ncbi.nlm.nih.gov/omim/?term=616016	http://www.informatics.jax.org/searchtool/Search.do?query=PPM1H&submit=Quick%0D%4029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1H	rs12424995	0.130391	0	0	1	0	0	intronic	intronic	intronic	PPM1H	PPM1H	ENSG00000111110	Na	Na	Na	Na	Na	Na	Het;C>T	1049;71|57	Hom;C>T	3310;0|126
N	N	-	12	63543578	63543578	T	A	snp	intronic	 	 	 	 	AVPR1A	Avpr1a	ENSG00000166148	arginine vasopressin receptor 1A	chr12:63539014-63544722	The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]	null; Autism | Personality; Insulin; panic disorder; several psychiatric disorders; anorexia nervosa perfectionism; pair-bonding behavior; autism; Hypertension|Obesity; alcohol consumption; Autism; Electrocardiography; antisocial behavioural traits; Diabetes Mellitus, Type 2|Hypertriglyceridemia|Obesity; Bulimia; Erythrocyte Count; musical aptitude; dance performance; Blood Proteins; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for disruptions in this gene display a stimulus processing deficit similar to that seen in schizophrenia. Anxiety-like behaviors are reduced in males but not females.  B cell development is also affected.	Defective AVP causes neurohypophyseal diabetes insipidus (NDI)	GO:0001992;regulation of systemic arterial blood pressure by vasopressin;IEA|GO:0002125;maternal aggressive behavior;IEA|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0007621;negative regulation of female receptivity;IEA|GO:0007625;grooming behavior;IEA|GO:0008015;blood circulation;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010033;response to organic substance;IEA|GO:0010035;response to inorganic substance;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014902;myotube differentiation;IEA|GO:0019722;calcium-mediated signaling;IEA|GO:0021537;telencephalon development;IEA|GO:0030307;positive regulation of cell growth;IEA|GO:0031394;positive regulation of prostaglandin biosynthetic process;IEA|GO:0032849;positive regulation of cellular pH reduction;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0035176;social behavior;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0042631;cellular response to water deprivation;IEA|GO:0042711;maternal behavior;IEA|GO:0042713;sperm ejaculation;IEA|GO:0043084;penile erection;IEA|GO:0045777;positive regulation of blood pressure;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0051412;response to corticosterone;IEA|GO:0051970;negative regulation of transmission of nerve impulse;IEA|GO:1901652;response to peptide;IBA	GO:0005768;endosome;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005000;vasopressin receptor activity;IEA|GO:0005080;protein kinase C binding;TAS|GO:0005515;protein binding;IPI|GO:0017046;peptide hormone binding;IEA|GO:0031894;V1A vasopressin receptor binding;IEA|GO:0042277;peptide binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/AVPR1A			https://www.ncbi.nlm.nih.gov/omim/?term=600821	http://www.informatics.jax.org/searchtool/Search.do?query=AVPR1A&submit=Quick%0D%11708ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AVPR1A	rs10784341	0	0	0	1	0	0	intronic	intronic	intronic	AVPR1A	AVPR1A	ENSG00000166148	Na	Na	Na	Na	Na	Na	Het;T>A	622;4|19	Hom;T>A	1007;2|28
N	N	-	12	6420146	6420146	C	A	snp	UTR5	-1247C>A	 	 	 	PLEKHG6	Plekhg6	ENSG00000008323	pleckstrin homology and RhoGEF domain containing G6	chr12:6419602-6437672			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IEA|GO:0032154;cleavage furrow;IEA|GO:0042995;cell projection;IEA	GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG6	https://www.uniprot.org/uniprot/Q3KR16		https://www.ncbi.nlm.nih.gov/omim/?term=611743	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG6&submit=Quick%0D%477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG6	rs749929	0.373403	0	0	1	0	0	UTR5	UTR5	UTR5	PLEKHG6(NM_001144856:c.-1247C>A)	PLEKHG6(uc010sew.2:c.-1247C>A)	ENSG00000008323(ENST00000396988:c.-1247C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	44;5|4	Hom;C>A	95;0|4
N	N	-	12	64383670	64383670	T	C	snp	intronic	 	 	 	 	SRGAP1	Srgap1	ENSG00000196935	SLIT-ROBO Rho GTPase activating protein 1	chr12:64238073-64541613	The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]	THYROID CANCER NONMEDULLARY 2 SUSCEPTIBILITY TO	 	Inactivation of Cdc42 and Rac	GO:0007165;signal transduction;IEA|GO:0030336;negative regulation of cell migration;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0048365;Rac GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SRGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=606523	http://www.informatics.jax.org/searchtool/Search.do?query=SRGAP1&submit=Quick%0D%16500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRGAP1	rs3741607	0.48722	0.4273	0.4702	1	0	0	intronic	intronic	intronic	SRGAP1	SRGAP1	ENSG00000196935	Na	Na	Na	Na	Na	Na	Het;T>C	408;29|22	Hom;T>C	1077;0|39
N	N	-	12	653984	653984	T	C	snp	intronic	 	 	 	 	B4GALNT3	B4galnt3	ENSG00000139044	beta-1,4-N-acetyl-galactosaminyltransferase 3	chr12:569530-672675	B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]	Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Tobacco Use Disorder	 			GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008376;acetylgalactosaminyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0033842;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT3	https://www.uniprot.org/uniprot/Q6L9W6		https://www.ncbi.nlm.nih.gov/omim/?term=612220	http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT3&submit=Quick%0D%7823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT3	rs1008587	0.526358	0	0	1	0	0	intronic	intronic	intronic	B4GALNT3	B4GALNT3	ENSG00000139044	Na	Na	Na	Na	Na	Na	Het;T>C	295;31|17	Hom;T>C	1492;0|52
N	N	-	12	65460368	65460368	A	G	snp	intronic	 	 	 	 	WIF1	Wif1	ENSG00000156076	WNT inhibitory factor 1	chr12:65444406-65515346	The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010]	colorectal cancer; Bone Mineral Density; Osteoporosis; schizophrenia; asthma; Hippocampus; Bone Density; Exercise Test	Homozygous null mice are viable and fertile but display increased susceptibility to spontaneous and induced osteosarcomas.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0007165;signal transduction;NAS|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0045600;positive regulation of fat cell differentiation;IEA	GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/WIF1	https://www.uniprot.org/uniprot/Q9Y5W5		https://www.ncbi.nlm.nih.gov/omim/?term=605186	http://www.informatics.jax.org/searchtool/Search.do?query=WIF1&submit=Quick%0D%9937ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WIF1	rs3782498	0.533746	0.5464	0	1	0	0	intronic	intronic	intronic	WIF1	WIF1	ENSG00000156076	Na	Na	Na	Na	Na	Na	Het;A>G	112;17|6	Hom;A>G	721;0|22
N	N	-	12	65514266	65514266	T	C	snp	synonymous SNV	A219G	A73A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	WIF1	Wif1	ENSG00000156076	WNT inhibitory factor 1	chr12:65444406-65515346	The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010]	colorectal cancer; Bone Mineral Density; Osteoporosis; schizophrenia; asthma; Hippocampus; Bone Density; Exercise Test	Homozygous null mice are viable and fertile but display increased susceptibility to spontaneous and induced osteosarcomas.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0007165;signal transduction;NAS|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0045600;positive regulation of fat cell differentiation;IEA	GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/WIF1	https://www.uniprot.org/uniprot/Q9Y5W5		https://www.ncbi.nlm.nih.gov/omim/?term=605186	http://www.informatics.jax.org/searchtool/Search.do?query=WIF1&submit=Quick%0D%9937ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WIF1	rs7301320	0.824081	0.7476	0.7765	1	0	0	exonic	exonic	exonic	WIF1	WIF1	ENSG00000156076	synonymous SNV	synonymous SNV	unknown	WIF1:NM_007191:exon2:c.A219G:p.A73A,	WIF1:uc001ssk.3:exon2:c.A219G:p.A73A,	UNKNOWN	Het;T>C	1695;73|79	Hom;T>C	3431;0|123
N	N	-	12	661656	661656	A	G	snp	nonsynonymous SNV	A1232G	K411R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	B4GALNT3	B4galnt3	ENSG00000139044	beta-1,4-N-acetyl-galactosaminyltransferase 3	chr12:569530-672675	B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]	Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Tobacco Use Disorder	 			GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008376;acetylgalactosaminyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0033842;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT3	https://www.uniprot.org/uniprot/Q6L9W6		https://www.ncbi.nlm.nih.gov/omim/?term=612220	http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT3&submit=Quick%0D%7823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT3	rs7298766	0.272165	0.3142	0.2875	0.38	5	13	exonic	exonic	exonic	B4GALNT3	B4GALNT3	ENSG00000139044	nonsynonymous SNV	nonsynonymous SNV	unknown	B4GALNT3:NM_173593:exon13:c.A1232G:p.K411R,	B4GALNT3:uc001qij.1:exon11:c.A938G:p.K313R,B4GALNT3:uc001qii.1:exon13:c.A1232G:p.K411R,	UNKNOWN	Het;A>G	474;20|24	Hom;A>G	1348;0|53
N	N	-	12	66417277	66417277	T	C	snp	downstream	 	 	 	 	MIR6074																		rs7308561	0.198283	0	0	1	0	0	downstream	intergenic	intergenic	MIR6074	HMGA2(dist=57206),5S_rRNA(dist=42724)	ENSG00000149948(dist=57202),ENSG00000256259(dist=4228)	Na	Na	Na	Na	Na	Na	Het;T>C	96;6|4	Hom;T>C	557;0|15
N	N	-	12	66417482	66417482	G	A	snp	ncRNA_exonic	 	 	 	 	MIR6074																		rs11176006	0.164936	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	MIR6074	HMGA2(dist=57411),5S_rRNA(dist=42519)	ENSG00000149948(dist=57407),ENSG00000256259(dist=4023)	Na	Na	Na	Na	Na	Na	Het;G>A	1725;60|47	Hom;G>A	3853;0|92
N	N	-	12	66417493	66417493	C	A	snp	ncRNA_exonic	 	 	 	 	MIR6074																		rs10878362	0.239816	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	MIR6074	HMGA2(dist=57422),5S_rRNA(dist=42508)	ENSG00000149948(dist=57418),ENSG00000256259(dist=4012)	Na	Na	Na	Na	Na	Na	Het;C>A	1725;57|46	Hom;C>A	3621;0|80
N	N	-	12	66725160	66725160	C	T	snp	nonsynonymous SNV	C2897T	P966L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	HELB	Helb	ENSG00000127311	DNA helicase B	chr12:66696325-66737423	This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]		Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks.		GO:0006260;DNA replication;IMP|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;IDA|GO:0006281;DNA repair;IEA|GO:0006396;RNA processing;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:1903775;regulation of DNA double-strand break processing;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IMP	GO:0005634;nucleus;IEA|GO:0005658;alpha DNA polymerase:primase complex;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0035861;site of double-strand break;IMP	GO:0000166;nucleotide binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HELB	https://www.uniprot.org/uniprot/Q8NG08		https://www.ncbi.nlm.nih.gov/omim/?term=614539	http://www.informatics.jax.org/searchtool/Search.do?query=HELB&submit=Quick%0D%6017ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELB	rs1185244	0.477835	0.4150	0.4793	0.08	1	13	exonic	exonic	exonic	HELB	HELB	ENSG00000127311	nonsynonymous SNV	nonsynonymous SNV	unknown	HELB:NM_033647:exon12:c.C2897T:p.P966L,	HELB:uc001sti.3:exon12:c.C2897T:p.P966L,	UNKNOWN	Het;C>T	1538;92|74	Hom;C>T	3390;0|125
N	N	-	12	66731864	66731864	C	A	snp	synonymous SNV	C3246A	T1082T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HELB	Helb	ENSG00000127311	DNA helicase B	chr12:66696325-66737423	This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]		Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks.		GO:0006260;DNA replication;IMP|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;IDA|GO:0006281;DNA repair;IEA|GO:0006396;RNA processing;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:1903775;regulation of DNA double-strand break processing;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IMP	GO:0005634;nucleus;IEA|GO:0005658;alpha DNA polymerase:primase complex;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0035861;site of double-strand break;IMP	GO:0000166;nucleotide binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HELB	https://www.uniprot.org/uniprot/Q8NG08		https://www.ncbi.nlm.nih.gov/omim/?term=614539	http://www.informatics.jax.org/searchtool/Search.do?query=HELB&submit=Quick%0D%6017ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELB	rs1168329	0.536342	0.4765	0.4974	1	0	0	exonic	exonic	exonic	HELB	HELB	ENSG00000127311	synonymous SNV	synonymous SNV	unknown	HELB:NM_033647:exon13:c.C3246A:p.T1082T,	HELB:uc001sti.3:exon13:c.C3246A:p.T1082T,	UNKNOWN	Het;C>A	790;29|35	Hom;C>A	1634;0|59
N	N	-	12	66732057	66732057	C	G	snp	intronic	 	 	 	 	HELB	Helb	ENSG00000127311	DNA helicase B	chr12:66696325-66737423	This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]		Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks.		GO:0006260;DNA replication;IMP|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;IDA|GO:0006281;DNA repair;IEA|GO:0006396;RNA processing;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:1903775;regulation of DNA double-strand break processing;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IMP	GO:0005634;nucleus;IEA|GO:0005658;alpha DNA polymerase:primase complex;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0035861;site of double-strand break;IMP	GO:0000166;nucleotide binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HELB	https://www.uniprot.org/uniprot/Q8NG08		https://www.ncbi.nlm.nih.gov/omim/?term=614539	http://www.informatics.jax.org/searchtool/Search.do?query=HELB&submit=Quick%0D%6017ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELB	rs1183274	0.507388	0	0	1	0	0	intronic	intronic	intronic	HELB	HELB	ENSG00000127311	Na	Na	Na	Na	Na	Na	Het;C>G	176;13|8	Hom;C>G	923;0|27
N	N	-	12	66741537	66741538	AT	A	indel	UTR3	*1262_*1261delinsT	 	 	 	GRIP1	Grip1	ENSG00000155974	glutamate receptor interacting protein 1	chr12:66741211-67197966	This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]	Erythrocyte Count; Tobacco Use Disorder; schizophrenia | autism; Myocardial Infarction; Hemoglobins; schizophrenia; Platelet Count; breast cancer ; Body Height; Coronary Artery Disease; several psychiatric disorders; Neutrophils; Waist-Hip Ratio; C-Reactive Protein; Hippocampus	Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions.	Trafficking of GluR2-containing AMPA receptors	GO:0008104;protein localization;IEA|GO:0016358;dendrite development;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0055037;recycling endosome;IEA	GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0008022;protein C-terminus binding;IPI|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0035259;glucocorticoid receptor binding;IPI|GO:0050681;androgen receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/GRIP1	https://www.uniprot.org/uniprot/Q9Y3R0	https://hpo.jax.org/app/browse/search?q=GRIP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604597	http://www.informatics.jax.org/searchtool/Search.do?query=GRIP1&submit=Quick%0D%9924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIP1	rs35499444	0.477037	0	0	1	0	0	UTR3	UTR3	UTR3	GRIP1(NM_001178074:c.*1262_*1261delinsT,NM_021150:c.*1262_*1261delinsT)	GRIP1(uc001stj.3:c.*1262_*1261delinsT,uc001stk.3:c.*1262_*1261delinsT,uc001stm.3:c.*1262_*1261delinsT)	ENSG00000155974(ENST00000286445:c.*1262_*1261delinsT,ENST00000359742:c.*1262_*1261delinsT,ENST00000398016:c.*1262_*1261delinsT)	Na	Na	Na	Na	Na	Na	Het;-T	130;10|9	Hom;-T	744;0|32
N	N	-	12	66742183	66742183	A	G	snp	UTR3	*616T>C	 	 	 	GRIP1	Grip1	ENSG00000155974	glutamate receptor interacting protein 1	chr12:66741211-67197966	This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]	Erythrocyte Count; Tobacco Use Disorder; schizophrenia | autism; Myocardial Infarction; Hemoglobins; schizophrenia; Platelet Count; breast cancer ; Body Height; Coronary Artery Disease; several psychiatric disorders; Neutrophils; Waist-Hip Ratio; C-Reactive Protein; Hippocampus	Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions.	Trafficking of GluR2-containing AMPA receptors	GO:0008104;protein localization;IEA|GO:0016358;dendrite development;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0055037;recycling endosome;IEA	GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0008022;protein C-terminus binding;IPI|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0035259;glucocorticoid receptor binding;IPI|GO:0050681;androgen receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/GRIP1	https://www.uniprot.org/uniprot/Q9Y3R0	https://hpo.jax.org/app/browse/search?q=GRIP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604597	http://www.informatics.jax.org/searchtool/Search.do?query=GRIP1&submit=Quick%0D%9924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIP1	rs1168308	0.503794	0	0	1	0	0	UTR3	UTR3	UTR3	GRIP1(NM_001178074:c.*616T>C,NM_021150:c.*616T>C)	GRIP1(uc001stj.3:c.*616T>C,uc001stk.3:c.*616T>C,uc001stm.3:c.*616T>C)	ENSG00000155974(ENST00000286445:c.*616T>C,ENST00000359742:c.*616T>C,ENST00000398016:c.*616T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	491;16|23	Hom;A>G	749;0|27
N	N	-	12	66771121	66771121	T	C	snp	intronic	 	 	 	 	GRIP1	Grip1	ENSG00000155974	glutamate receptor interacting protein 1	chr12:66741211-67197966	This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]	Erythrocyte Count; Tobacco Use Disorder; schizophrenia | autism; Myocardial Infarction; Hemoglobins; schizophrenia; Platelet Count; breast cancer ; Body Height; Coronary Artery Disease; several psychiatric disorders; Neutrophils; Waist-Hip Ratio; C-Reactive Protein; Hippocampus	Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions.	Trafficking of GluR2-containing AMPA receptors	GO:0008104;protein localization;IEA|GO:0016358;dendrite development;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0055037;recycling endosome;IEA	GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0008022;protein C-terminus binding;IPI|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0035259;glucocorticoid receptor binding;IPI|GO:0050681;androgen receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/GRIP1	https://www.uniprot.org/uniprot/Q9Y3R0	https://hpo.jax.org/app/browse/search?q=GRIP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604597	http://www.informatics.jax.org/searchtool/Search.do?query=GRIP1&submit=Quick%0D%9924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIP1	rs148141593	0.382987	0	0	1	0	0	intronic	intronic	intronic	GRIP1	GRIP1	ENSG00000155974	Na	Na	Na	Na	Na	Na	Het;T>C	544;11|20	Hom;T>C	2590;0|66
N	N	-	12	667915	667915	C	T	snp	intronic	 	 	 	 	B4GALNT3	B4galnt3	ENSG00000139044	beta-1,4-N-acetyl-galactosaminyltransferase 3	chr12:569530-672675	B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]	Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Tobacco Use Disorder	 			GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008376;acetylgalactosaminyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0033842;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT3	https://www.uniprot.org/uniprot/Q6L9W6		https://www.ncbi.nlm.nih.gov/omim/?term=612220	http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT3&submit=Quick%0D%7823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT3	rs61916654	0.0880591	0	0	1	0	0	intronic	intronic	intronic	B4GALNT3	B4GALNT3	ENSG00000139044	Na	Na	Na	Na	Na	Na	Het;C>T	528;15|21	Hom;C>T	1416;0|32
N	N	-	12	670808	670808	G	C	snp	UTR3	*191G>C	 	 	 	B4GALNT3	B4galnt3	ENSG00000139044	beta-1,4-N-acetyl-galactosaminyltransferase 3	chr12:569530-672675	B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]	Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Tobacco Use Disorder	 			GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008376;acetylgalactosaminyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0033842;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT3	https://www.uniprot.org/uniprot/Q6L9W6		https://www.ncbi.nlm.nih.gov/omim/?term=612220	http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT3&submit=Quick%0D%7823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT3	rs34798889	0.141973	0	0	1	0	0	UTR3	UTR3	UTR3	B4GALNT3(NM_173593:c.*191G>C)	B4GALNT3(uc001qii.1:c.*191G>C,uc001qik.1:c.*191G>C)	ENSG00000139044(ENST00000266383:c.*191G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	101;1|4	Hom;G>C	56;0|3
N	N	-	12	67373002	67373017	TAAAAAAAAAAAAAAA	T	indel	ncRNA_intronic	 	 	 	 	AC134511.1																		Na	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	GRIP1(dist=300077),LOC102724421(dist=98389)	GRIP1(dist=175108),CAND1(dist=290044)	ENSG00000256248	Na	Na	Na	Na	Na	Na	Het;-AAAAAAAAAAAAAAA	337;4|11	Hom;-AAAAAAAAAAAAAAA	292;2|8
N	N	-	12	67706466	67706466	G	A	snp	synonymous SNV	G2079A	L693L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CAND1	Cand1	ENSG00000111530	cullin associated and neddylation dissociated 1	chr12:67663061-67713731	This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Body Weight; Tunica Media; Osteoporosis; Body Fat Distribution; hippocampal atrophy; Cholesterol; Echocardiography	 	Iron uptake and transport	GO:0006879;cellular iron ion homeostasis;TAS|GO:0010265;SCF complex assembly;IDA|GO:0016567;protein ubiquitination;IDA|GO:0030154;cell differentiation;IDA|GO:0043086;negative regulation of catalytic activity;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045899;positive regulation of RNA polymerase II transcriptional preinitiation complex assembly;IEA	GO:0000151;ubiquitin ligase complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031461;cullin-RING ubiquitin ligase complex;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0005515;protein binding;IPI|GO:0017025;TBP-class protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAND1	https://www.uniprot.org/uniprot/Q86VP6		https://www.ncbi.nlm.nih.gov/omim/?term=607727	http://www.informatics.jax.org/searchtool/Search.do?query=CAND1&submit=Quick%0D%4084ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAND1	rs1060350	0.40635	0.4886	0.5201	1	0	0	exonic	exonic	exonic	CAND1	CAND1	ENSG00000111530	synonymous SNV	synonymous SNV	unknown	CAND1:NM_018448:exon15:c.G3549A:p.L1183L,	CAND1:uc001sto.2:exon9:c.G2079A:p.L693L,CAND1:uc001stn.2:exon15:c.G3549A:p.L1183L,	UNKNOWN	Het;G>A	1538;58|67	Hom;G>A	3198;0|117
N	N	-	12	67756680	67756680	C	T	snp	intergenic	 	 	 	 	MRPL40P1																		rs775651	0.413738	0	0	1	0	0	intergenic	intergenic	intergenic	CAND1(dist=48208),LOC100507175(dist=157182)	CAND1(dist=48292),AK055974(dist=157182)	ENSG00000256037(dist=10861),ENSG00000256355(dist=61372)	Na	Na	Na	Na	Na	Na	Het;C>T	32;9|4	Hom;C>T	475;0|19
N	N	-	12	68001656	68001656	C	T	snp	intergenic	 	 	 	 	LINC02442																		rs2700113	0.494609	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100507175(dist=40745),DYRK2(dist=40856)	AK055974(dist=40750),DYRK2(dist=40856)	ENSG00000256077(dist=17889),ENSG00000127334(dist=40462)	Na	Na	Na	Na	Na	Na	Het;C>T	131;3|4	Hom;C>T	422;0|10
N	N	-	12	68001657	68001657	A	G	snp	intergenic	 	 	 	 	LINC02442																		rs2700112	0.494609	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100507175(dist=40746),DYRK2(dist=40855)	AK055974(dist=40751),DYRK2(dist=40855)	ENSG00000256077(dist=17890),ENSG00000127334(dist=40461)	Na	Na	Na	Na	Na	Na	Het;A>G	131;3|4	Hom;A>G	422;0|10
N	N	-	12	68551409	68551409	C	T	snp	ncRNA_intronic	 	 	 	 	IFNG-AS1																		rs1861494	0.774161	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IFNG	IFNG	ENSG00000255733	Na	Na	Na	Na	Na	Na	Het;C>T	278;8|14	Hom;C>T	536;0|21
N	N	-	12	68552041	68552042	TA	T	indel	splicing	 	 	 	 	IFNG	Ifng	ENSG00000111537	interferon gamma	chr12:68548548-68553527	This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]	Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; pancreatitis, chronic; celiac disease; Adenocarcinoma|Cachexia|Pancreatic Neoplasms|Pancreatitis; Leptospirosis|Swamp fever; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; Type 2 Diabetes| edema | rosiglitazone; Helicobacter Infections; Inflammation; SIDS/sudden infant death syndrome; arthritis; Parkinson's disease ; Common Variable Immunodeficiency; Psoriasis; preterm delivery; leukemia; Sarcoidosis, Pulmonary; coronary vasculopathy; pulmonary fibrosis; Communicable Diseases|Severe Acute Respiratory Syndrome; Hodgkin's disease; pancreatic cancer; liver transplant; diabetes, type 2; lymphoproliferative disorders, post-transplant; schistosoma mansoni; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; rheumatoid arthritis; brucellosis; stomach cancer; proliferative vitreoretinopathy rhegmatogenous retinal detachment; pregnancy loss; Bronchiolitis, Viral; renal transplantation, protein secretion in; childhood atopic asthma; kidney transplant; bullous pemphigoid; Inflammation|Premature Birth; Hepatitis C, Chronic|Liver Cirrhosis; renal allograft outcome; systemic lupus erythematosus; panencephalitis, subacute sclerosing; heart transplant; Tuberculosis, Pulmonary; esophageal cancer ; Dawson's inclusion body encephalitis|Subacute Sclerosing Panencephalitis; G6PD deficiency; SARS (severe acute respiratory syndrome); Respiratory Syncytial Virus Infections; Behcet Syndrome|; hepatitis C; longevity; Wegener's granulomatosis; multiple sclerosis; Cardiovascular Disease; nephropathy, IgA; juvenile arthritis; Common Cold|Otitis Media|Picornaviridae Infections; Asthma|; Common Variable Immunodeficiency|Cytomegalovirus Infections|Graft vs Host Disease|Hematologic Diseases|Recurrence; parvovirus; graft rejection, liver; heart transplant complications; anemia C-reactive protein; rubella vaccination; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; liver disease; hepatitis C, chronic; Alphavirus Infections|Infectious Mononucleosis|Q Fever; Graves Disease|Hashimoto Disease; kidney transplant complications; Longevity; cytomegalovirus; sarcoidosis; Lymphoma, Non-Hodgkin; Wounds and Injuries; Hepatitis B, Chronic; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; birth weight perinatal complications; Graves' disease Hashimoto's thryoiditis; tuberculosis ; trypanosomiasis; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Acute Coronary Syndrome; Graves' disease; kidney graft survival; preeclampsia; psoriasis psoriatic arthritis; cervical cancer; liver transplantation, immunosuppression after; carotid plaque; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; atherosclerosis, coronary; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; mood disorders; Periodontitis; kidney; failure|Renal Insufficiency; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; Asthma; Chagas Cardiomyopathy|Chagas Disease; Cardiovascular Diseases; malaria; breast cancer; dermatitis and eczema; hepatitis B, intrauterine; Abortion, Spontaneous; Tobacco Use Disorder; inflammatory bowel disease; Rubella vaccine, cytokine response to; plasma HDL cholesterol (HDL-C) levels; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; lung transplant complications; renal allograft rejection; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Hepatitis C|Remission, Spontaneous; esophageal adenocarcinoma; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; normal variation; Respiratory Tract Infections; ulcerative colitis; Autoimmune Diseases|Gastritis; disc disease, intervertebral; diabetes, type 1; hepatitis C, chronic; periodontitis; Infection|Inflammation|Premature Birth; Cervical Intraepithelial Neoplasia; angiomyolipomas, renal; Carcinoma, Hepatocellular|Diabetes Complications|Diabetes Mellitus|Inflammation|Liver Neoplasms; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Drug Hypersensitivity; desensitization in solid organ transplant recipients ; Graves ophthalmopathy; Anemia, Aplastic|; Bronchiolitis|Respiratory Syncytial Virus Infections; Myocardial Infarction; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; sarcoidosis; tuberculosis; psoriasis; leishmaniasis; Alzheimer's disease; Multiple Organ Failure|Multiple Trauma|Sepsis|Systemic infection; Atherosclerosis|Carotid artery stenosis|Carotid Stenosis|Inflammation; Epstein-Barr virus reactivation; aplastic anemia, acquired; cirrhosis hepatitis C, chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis; longevity; bladder cancer; renal transplant; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; sepsis; Leukemia, Lymphocytic, Chronic, B-Cell; Nasopharyngeal Neoplasms; Anemia, Sickle Cell|Bacterial Infections|Enterobacteriaceae Infections|Osteomyelitis|Sepsis|Sickle cell anemia|Staphylococcal Infections|Systemic infection|Unspecified osteomyelitis NOS; colorectal cancer; Alzheimer's Disease; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Omenn syndrome severe combined immunideficiency; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; atopic asthma; Sjogren's syndrome; purpura; tuberculosis; arthritis, rheumatoid; recurrent pregnancy loss; Irritable Bowel Syndrome; Lymphadenitis|Tuberculosis|Tuberculosis, Pulmonary; giant cell arteritis; polymyalgia rheumatica; parvovirus B19 infection; acute and chronic kidney transplant outcome; leishmaniasis, post-kala-azar; Cardiovascular Diseases|Inflammation; Aggressive Periodontitis|Periodontitis, Juvenile; Endometriosis; graft-vs-host disease; H. pylori infection; Uveomeningoencephalitic Syndrome; Graves' disease Hashimoto's thyroiditis; graft versus host disease; bone marrow transplantation; Hepatitis B; Hepatitis B|Hepatitis C|Reperfusion Injury; Lymphoma, Large B-Cell, Diffuse; lung cancer ; graft-versus-host disease; pregnancy loss, recurrent; Common Cold|; graves' ophthalmopathy; oral lichen planus; melanoma; cervical intraepithelial neoplasia grade 3; Lymphocytosis|Lymphoproliferative Disorders; Anemia, Aplastic|Aplastic anemia; lung cancer; hepatitis C; Schistosoma mansoni infection; cardiomyopathy; heart anomalies, congenital; heart failure; Fractures, Bone|Osteoporotic Fractures; Endotoxemia; pancreatitis; respiratory syncytial virus bronchiolitis; Boutonneuse Fever|; pemphigus vulgaris; Sjogren's syndrome; giant cell arteritis; myasthenia gravis; hepatitis C infection; chronic fatigue syndrome; hepatitis B and C virus infection; Dengue Hemorrhagic Fever; Scleroderma, Systemic; Coronary Disease; Chorioretinitis|Ocular Toxoplasmosis|Toxoplasmosis, Ocular; Tuberculosis|Tuberculosis, Pulmonary; Arthritis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Hepatitis B, Chronic|Viremia; malaria, plasmodium falciparum; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; hepatitis B; preterm birth; Hepatitis C|Pregnancy Complications, Infectious; bronchiolitis; Leprosy; Infection|Postoperative Complications; leukemia, acute myeloid; longevity; myelodysplasia; allograft outcome; kidney angiomyolipomas; Diabetes mellitus|Myocardial Infarction; allergic rhinitis; cell-surface B7 expression; cytokine production; lung function; Severe Acute Respiratory Syndrome; Lichen Planus, Oral; leishmaniasis, cutaneous; interstitial lung diseases; allergies; common cold; smoking cessation; asthma; bronchiectasis; liver cancer; SPT; patent ductus arteriosus; measles vaccine immunity; Toxoplasmosis, Ocular; Osteolysis|Prosthesis Failure; Sarcoidosis; Chronic renal failure|Kidney Failure, Chronic; Q fever; respiratory syncytial virus; lung allograft fibrosis; hepatitis B, chronic IgE; Langerhans cell histiocytosis; Kidney Diseases; Chlamydia Infections|Infertility, Female; Hepatitis C; Brucellosis; Grave`s disease; uveitis; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; tryptophan catabolism; null; Clonorchiasis|Fibrosis; Vitiligo; Lung Diseases; atopy; Tuberculosis; bronchodilator response; atherosclerosis; Neovascularization, Pathologic|Retinal Vasculitis; kidney cancer; nephropathy; HIV; endometriosis; aplastic anemia; Graves Disease|Graves' Disease; hepatitis C; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Body Mass Index; c-reactive protein cytokine mRNA; hepatitis E; idiopathic inflammatory myopathies; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; bronchiolitis obliterans syndrome; coeliac disease; paratyphoid feber typhoid fever; Gingival Hemorrhage|Periodontal Pocket|Periodontitis	Mutants show immune system abnormalities including decreased inflammatory response in one line, and uncontrolled splenocyte proliferation and susceptibility to intracellular pathogens in another.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001781;neutrophil apoptotic process;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002026;regulation of the force of heart contraction;IEA|GO:0002250;adaptive immune response;IEA|GO:0002302;CD8-positive, alpha-beta T cell differentiation involved in immune response;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IGI|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006955;immune response;IEA|GO:0006959;humoral immune response;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009615;response to virus;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IDA|GO:0010835;regulation of protein ADP-ribosylation;IDA|GO:0019882;antigen processing and presentation;IEA|GO:0030593;neutrophil chemotaxis;IEA|GO:0030857;negative regulation of epithelial cell differentiation;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031642;negative regulation of myelination;IEA|GO:0032224;positive regulation of synaptic transmission, cholinergic;IEA|GO:0032700;negative regulation of interleukin-17 production;IDA|GO:0032735;positive regulation of interleukin-12 production;IDA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0032834;positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response;IDA|GO:0033141;positive regulation of peptidyl-serine phosphorylation of STAT protein;NAS|GO:0033160;positive regulation of protein import into nucleus, translocation;IDA|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IDA|GO:0040008;regulation of growth;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042742;defense response to bacterium;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0044146;negative regulation of growth of symbiont involved in interaction with host;IEA|GO:0045080;positive regulation of chemokine biosynthetic process;IEA|GO:0045084;positive regulation of interleukin-12 biosynthetic process;IEA|GO:0045348;positive regulation of MHC class II biosynthetic process;IEA|GO:0045410;positive regulation of interleukin-6 biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045672;positive regulation of osteoclast differentiation;IDA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0050691;regulation of defense response to virus by host;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IEA|GO:0050776;regulation of immune response;IEA|GO:0050796;regulation of insulin secretion;IDA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050954;sensory perception of mechanical stimulus;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051607;defense response to virus;IEA|GO:0051712;positive regulation of killing of cells of other organism;IDA|GO:0060251;regulation of glial cell proliferation;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060550;positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity;IDA|GO:0060552;positive regulation of fructose 1,6-bisphosphate metabolic process;IDA|GO:0060557;positive regulation of vitamin D biosynthetic process;IDA|GO:0060559;positive regulation of calcidiol 1-monooxygenase activity;IDA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071351;cellular response to interleukin-18;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0072125;negative regulation of glomerular mesangial cell proliferation;IEA|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:0090312;positive regulation of protein deacetylation;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0098908;regulation of neuronal action potential;IEA|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904798;positive regulation of core promoter binding;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IDA|GO:2000345;regulation of hepatocyte proliferation;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043204;perikaryon;IEA	GO:0005125;cytokine activity;IEA|GO:0005133;interferon-gamma receptor binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IFNG	https://www.uniprot.org/uniprot/P01579	https://hpo.jax.org/app/browse/search?q=IFNG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147570	http://www.informatics.jax.org/searchtool/Search.do?query=IFNG&submit=Quick%0D%4086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNG	rs2234686	0.625799	0	0.5973	1	0	0	splicing	splicing	splicing	IFNG	IFNG	ENSG00000111537	Na	Na	Na	Na	Na	Na	Het;-A	631;25|39	Hom;-A	1046;4|53
N	N	-	12	6909380	6909381	TG	T	indel	intronic	 	 	 	 	CD4	Cd4	ENSG00000010610	CD4 molecule	chr12:6896024-6929974	This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010]	breast cancer ; HIV Infections|Pregnancy Complications, Infectious|[X]Human immunodeficiency virus disease; chronic obstructive pulmonary disease; vitiligo; HIV Infections|[X]Human immunodeficiency virus disease; diabetes, type 1; hepatitis C; lung cancer ; Vitiligo; pediatric AIDS progression.; multiple sclerosis; Acquired Immunodeficiency Syndrome|HIV Infections; lung cancer; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; hepatitis C; hypothyroidism; benzene haematotoxicity; Multiple Myeloma; attention deficit disorder conduct disorder oppositional defiant disorder; bronchodilator response; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia	Mice homozygous for knock-out alleles exhibit abnormal immune system morphology and physiology.	Clathrin-mediated endocytosis	GO:0001816;cytokine production;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006948;induction by virus of host cell-cell fusion;IDA|GO:0006955;immune response;NAS|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007167;enzyme linked receptor protein signaling pathway;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;NAS|GO:0010524;positive regulation of calcium ion transport into cytosol;IEA|GO:0016032;viral process;IEA|GO:0019064;fusion of virus membrane with host plasma membrane;TAS|GO:0030217;T cell differentiation;IDA|GO:0030260;entry into host cell;TAS|GO:0031295;T cell costimulation;TAS|GO:0032355;response to estradiol;IEA|GO:0032507;maintenance of protein location in cell;IDA|GO:0033280;response to vitamin D;IEA|GO:0033674;positive regulation of kinase activity;IDA|GO:0035397;helper T cell enhancement of adaptive immune response;IEA|GO:0035723;interleukin-15-mediated signaling pathway;IDA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042110;T cell activation;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045058;T cell selection;IDA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;NAS|GO:0045657;positive regulation of monocyte differentiation;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050863;regulation of T cell activation;IDA|GO:0050870;positive regulation of T cell activation;IEA|GO:0051924;regulation of calcium ion transport;IDA|GO:0061024;membrane organization;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IDA	GO:0005769;early endosome;TAS|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0042101;T cell receptor complex;NAS|GO:0045121;membrane raft;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005201;extracellular matrix structural constituent;NAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0015026;coreceptor activity;TAS|GO:0019865;immunoglobulin binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042011;interleukin-16 binding;IPI|GO:0042012;interleukin-16 receptor activity;IDA|GO:0042289;MHC class II protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:1990782;protein tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD4	https://www.uniprot.org/uniprot/P01730	https://hpo.jax.org/app/browse/search?q=CD4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=186940	http://www.informatics.jax.org/searchtool/Search.do?query=CD4&submit=Quick%0D%528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD4	rs3216776	0.520367	0.5660	0.5831	1	0	0	intronic	intronic	intronic	CD4	CD4	ENSG00000010610	Na	Na	Na	Na	Na	Na	Het;-G	1060;16|28	Hom;-G	2026;0|47
N	N	-	12	6909388	6909388	A	G	snp	intronic	 	 	 	 	CD4	Cd4	ENSG00000010610	CD4 molecule	chr12:6896024-6929974	This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010]	breast cancer ; HIV Infections|Pregnancy Complications, Infectious|[X]Human immunodeficiency virus disease; chronic obstructive pulmonary disease; vitiligo; HIV Infections|[X]Human immunodeficiency virus disease; diabetes, type 1; hepatitis C; lung cancer ; Vitiligo; pediatric AIDS progression.; multiple sclerosis; Acquired Immunodeficiency Syndrome|HIV Infections; lung cancer; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; hepatitis C; hypothyroidism; benzene haematotoxicity; Multiple Myeloma; attention deficit disorder conduct disorder oppositional defiant disorder; bronchodilator response; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia	Mice homozygous for knock-out alleles exhibit abnormal immune system morphology and physiology.	Clathrin-mediated endocytosis	GO:0001816;cytokine production;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006948;induction by virus of host cell-cell fusion;IDA|GO:0006955;immune response;NAS|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007167;enzyme linked receptor protein signaling pathway;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;NAS|GO:0010524;positive regulation of calcium ion transport into cytosol;IEA|GO:0016032;viral process;IEA|GO:0019064;fusion of virus membrane with host plasma membrane;TAS|GO:0030217;T cell differentiation;IDA|GO:0030260;entry into host cell;TAS|GO:0031295;T cell costimulation;TAS|GO:0032355;response to estradiol;IEA|GO:0032507;maintenance of protein location in cell;IDA|GO:0033280;response to vitamin D;IEA|GO:0033674;positive regulation of kinase activity;IDA|GO:0035397;helper T cell enhancement of adaptive immune response;IEA|GO:0035723;interleukin-15-mediated signaling pathway;IDA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042110;T cell activation;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045058;T cell selection;IDA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;NAS|GO:0045657;positive regulation of monocyte differentiation;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050863;regulation of T cell activation;IDA|GO:0050870;positive regulation of T cell activation;IEA|GO:0051924;regulation of calcium ion transport;IDA|GO:0061024;membrane organization;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IDA	GO:0005769;early endosome;TAS|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0042101;T cell receptor complex;NAS|GO:0045121;membrane raft;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005201;extracellular matrix structural constituent;NAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0015026;coreceptor activity;TAS|GO:0019865;immunoglobulin binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042011;interleukin-16 binding;IPI|GO:0042012;interleukin-16 receptor activity;IDA|GO:0042289;MHC class II protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:1990782;protein tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD4	https://www.uniprot.org/uniprot/P01730	https://hpo.jax.org/app/browse/search?q=CD4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=186940	http://www.informatics.jax.org/searchtool/Search.do?query=CD4&submit=Quick%0D%528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD4	rs2365568	0.958666	0.9429	0.9267	1	0	0	intronic	intronic	intronic	CD4	CD4	ENSG00000010610	Na	Na	Na	Na	Na	Na	Het;A>G	1014;12|23	Hom;A>G	1857;0|41
N	N	-	12	6909442	6909442	T	C	snp	intronic	 	 	 	 	CD4	Cd4	ENSG00000010610	CD4 molecule	chr12:6896024-6929974	This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010]	breast cancer ; HIV Infections|Pregnancy Complications, Infectious|[X]Human immunodeficiency virus disease; chronic obstructive pulmonary disease; vitiligo; HIV Infections|[X]Human immunodeficiency virus disease; diabetes, type 1; hepatitis C; lung cancer ; Vitiligo; pediatric AIDS progression.; multiple sclerosis; Acquired Immunodeficiency Syndrome|HIV Infections; lung cancer; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; hepatitis C; hypothyroidism; benzene haematotoxicity; Multiple Myeloma; attention deficit disorder conduct disorder oppositional defiant disorder; bronchodilator response; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia	Mice homozygous for knock-out alleles exhibit abnormal immune system morphology and physiology.	Clathrin-mediated endocytosis	GO:0001816;cytokine production;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006948;induction by virus of host cell-cell fusion;IDA|GO:0006955;immune response;NAS|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007167;enzyme linked receptor protein signaling pathway;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;NAS|GO:0010524;positive regulation of calcium ion transport into cytosol;IEA|GO:0016032;viral process;IEA|GO:0019064;fusion of virus membrane with host plasma membrane;TAS|GO:0030217;T cell differentiation;IDA|GO:0030260;entry into host cell;TAS|GO:0031295;T cell costimulation;TAS|GO:0032355;response to estradiol;IEA|GO:0032507;maintenance of protein location in cell;IDA|GO:0033280;response to vitamin D;IEA|GO:0033674;positive regulation of kinase activity;IDA|GO:0035397;helper T cell enhancement of adaptive immune response;IEA|GO:0035723;interleukin-15-mediated signaling pathway;IDA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042110;T cell activation;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045058;T cell selection;IDA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;NAS|GO:0045657;positive regulation of monocyte differentiation;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050863;regulation of T cell activation;IDA|GO:0050870;positive regulation of T cell activation;IEA|GO:0051924;regulation of calcium ion transport;IDA|GO:0061024;membrane organization;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IDA	GO:0005769;early endosome;TAS|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0042101;T cell receptor complex;NAS|GO:0045121;membrane raft;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005201;extracellular matrix structural constituent;NAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0015026;coreceptor activity;TAS|GO:0019865;immunoglobulin binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042011;interleukin-16 binding;IPI|GO:0042012;interleukin-16 receptor activity;IDA|GO:0042289;MHC class II protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:1990782;protein tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD4	https://www.uniprot.org/uniprot/P01730	https://hpo.jax.org/app/browse/search?q=CD4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=186940	http://www.informatics.jax.org/searchtool/Search.do?query=CD4&submit=Quick%0D%528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD4	rs2255301	0.571486	0.6241	0.5998	1	0	0	intronic	intronic	intronic	CD4	CD4	ENSG00000010610	Na	Na	Na	Na	Na	Na	Het;T>C	257;14|12	Hom;T>C	947;0|31
N	N	-	12	6940254	6940254	A	G	snp	intronic	 	 	 	 	P3H3	P3h3																	rs7305463	0.8125	0	0	1	0	0	intronic	intronic	intronic	P3H3	LEPREL2	ENSG00000110811	Na	Na	Na	Na	Na	Na	Het;A>G	82;2|3	Hom;A>G	393;0|11
N	N	-	12	6942672	6942672	A	C	snp	intronic	 	 	 	 	P3H3	P3h3																	rs4963513	0.815495	0	0	1	0	0	intronic	intronic	intronic	P3H3	LEPREL2	ENSG00000110811	Na	Na	Na	Na	Na	Na	Het;A>C	56;9|4	Hom;A>C	271;0|9
N	N	-	12	6942823	6942823	A	G	snp	intronic	 	 	 	 	P3H3	P3h3																	rs4963512	0.816494	0.6742	0.6662	1	0	0	intronic	intronic	intronic	P3H3	LEPREL2	ENSG00000110811	Na	Na	Na	Na	Na	Na	Het;A>G	1708;78|79	Hom;A>G	3452;3|133
N	N	-	12	6946493	6946493	T	C	snp	intronic	 	 	 	 	P3H3	P3h3																	rs4963518	0.81849	0	0	1	0	0	intronic	intronic	intronic	P3H3	LEPREL2	ENSG00000110811	Na	Na	Na	Na	Na	Na	Het;T>C	150;13|7	Hom;T>C	688;0|20
N	N	-	12	6946545	6946545	C	A	snp	intronic	 	 	 	 	P3H3	P3h3																	rs4963510	0.684305	0.5814	0.6320	1	0	0	intronic	intronic	intronic	P3H3	LEPREL2	ENSG00000110811	Na	Na	Na	Na	Na	Na	Het;C>A	659;36|29	Hom;C>A	2035;0|73
N	N	-	12	6948692	6948692	A	G	snp	UTR3	*67A>G	 	 	 	P3H3	P3h3																	rs1047776	0.780351	0	0	1	0	0	UTR3	UTR3	UTR3	P3H3(NM_014262:c.*67A>G)	LEPREL2(uc001qra.1:c.*67A>G,uc001qrb.1:c.*67A>G)	ENSG00000110811(ENST00000251761:c.*67A>G,ENST00000396725:c.*67A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	622;12|24	Hom;A>G	735;1|27
N	N	-	12	6953257	6953257	A	C	snp	intronic	 	 	 	 	GNB3	Gnb3	ENSG00000111664	G protein subunit beta 3	chr12:6949118-6956557	Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]	Migraine Disorders|Substance-Related Disorders; Adenoma|Adenoma, Oxyphilic|Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Papillary and follicular adenocarcinoma|thyroid neoplasm|Thyroid Neoplasms; Hypertension|Myocardial Ischemia; Hypertension; Infection|Sudden Infant Death; cardiovascular; major depressive disorder; Coronary Disease|Coronary heart disease; Syncope, Vasovagal|Vasovagal syncope; Arterial Occlusive Diseases|Hypertension; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; breast cancer; vasoconstriction, coronary; atherosclerosis, generalized; Carotid Artery Diseases|; Arrhythmias, Cardiac|Myocardial ischemia; hypertension; obesity; Thyroid Diseases; multiple sclerosis; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; body mass; glucose tolerance; insulin; lipids; blood pressure, arterial; heart rate; autonomic nervous system; metabolic syndrome; diabetes, type 1; limb deficiency anomalies; Hypotension; Hyperuricemia; Erectile Dysfunction; Hepatitis C|Substance Abuse, Intravenous; overweight; blood pressure, arterial; enhanced atrial inward rectifier potassium currents; myocardial infarct stroke; obesity; diabetes, unspecified; acetylcholine responsiveness; hypertension; carotid intima-media thickness; Obesity; Diabetes Mellitus, Type 2|; bipolar disorder; depression; Coronary Artery Disease; kidney transplant complications; obesity; Bipolar Disorder; dyspepsia; atherosclerosis; hypertension and left ventricular mass; diabetes, type 2; Cerebral Palsy; mood disorder; peak oxygen consumption; Obesity, Morbid; Hypercholesterolemia; Hepatitis C|HIV Infections|[X]Human immunodeficiency virus disease; atherosclerosis, coronary; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Birth Weight|Weight Gain; hypertension and obesity; Kidney Failure, Chronic; Glomerulonephritis, IGA|IGA Glomerulonephritides; Insulin Resistance|Metabolic Syndrome X|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; mood disorders; Type 2 diabetes; Cardiovascular Diseases|Hypertension; Obesity|Overweight; major and bipolar depressives; Hyperlipidemias|Hypertension; Glioblastoma; diabetes, type 1 ; Body Weight|Hypertension|Insulin Resistance|Obesity; Heart Diseases|Myocardial Infarction; Cicatrization|Kidney Diseases|Vesico-Ureteral Reflux|Vesicoureteral reflux; left ventricular hypertrophy; Pre-Eclampsia; coronary artery vasoconstriction.; HIV Infections|[X]Human immunodeficiency virus disease; Albuminuria|Cardiovascular Diseases|Hypertension; radial artery hypertrophy; depression and response to antidepressant treatment; Obesity|Weight Loss; Arrhythmias, Cardiac|Heart Failure; BP-Major Depressive; Migraine Disorders; Cardiovascular Diseases|Recurrence; diabetes, type 2; hypertension; body mass; hypertension; insulin sensitivity; seasonal affective disorder; serum potassium and total cholesterol levels but not; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Liver Cirrhosis; insulin; obesity; blood pressure, arterial; blood and blood forming organ disorders; suicide; Hypercholesterolemia|Myocardial Infarction; null; Diabetes Mellitus, Type 2; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; sexual side-effects; Autonomic Nervous System Diseases|Syncope, Vasovagal; Chronic renal failure|Kidney Failure, Chronic|Polycystic Kidney, Autosomal Dominant; Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Birth Weight; Alzheimer's disease; Coronary Artery Disease|Diabetes mellitus|Hypertension|Myocardial Infarction; normal variation; vascular response; Hypertension|Metabolic Syndrome X; unexplained (functional) dyspepsia.; Cardiovascular Diseases|; Schizophrenia; bipolar disorder; bipolar disorder; major depressive disorder; Dizziness|Syncope; Coronary Disease|Hyperlipoproteinemia Type II; Coronary Disease|Coronary heart disease|Myocardial Infarction; Arthritis, Rheumatoid|Hypertension; stroke; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Irritable Bowel Syndrome; depressive disorder, major; several psychiatric disorders; Brain Ischemia|Carotid Stenosis; body mass index; Weight Gain; Adenoma|Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Papillary and follicular adenocarcinoma|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; hypertriglyceridemic waist; restenosis; cardiovascular disease; renal transplant rejection; myocardial infarct; coronary artery disease; Seasonal affective disorder; bladder cancer; HELLP Syndrome|Pre-Eclampsia; grade II hypertension; plasma HDL cholesterol (HDL-C) levels; Alcoholism|Tobacco Use Disorder; Cluster Headache; Apoplexy|Brain Ischemia|Stroke; arterial wall changes; body mass; obesity|hypertension; Atrial Fibrillation; Dengue Hemorrhagic Fever; depression; reduced kidney allograft survival; Amyotrophic Lateral Sclerosis|; Obesity|Overweight|Weight Loss; Venous response to nitroglycerin; blood pressure, arterial diuretic effects heart rate hypokalemia; renin activity; aldosterone; retinopathy, diabetic; elite athletes; Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell|Neoplasm Recurrence, Local; schizophrenia; weight gain; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Neuropathies|Diabetic Retinopathy; weight loss; irritable bowel syndrome; arterial stiffness; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Body Weight|Obesity; Dyspepsia; Sleep Apnea, Obstructive; Altitude Sickness|Chronic Disease; Cardiovascular Diseases; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; clozapine-schizophrenics; hypertension; myocardial infarction; pharmacogenetic studies; Recurrence|Venous Thromboembolism; hypertension; insulin; obesity; erectile dysfunction; Opioid-Related Disorders|Substance Withdrawal Syndrome; Dyspepsia|Gastroesophageal Reflux|Irritable Bowel Syndrome; Tachycardia, Ventricular; Hypercholesterolemia|LDLC levels	Mice homozygous for a knock-out allele exhibit abnormal light ON response and synaptic maintenance.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006457;protein folding;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0008217;regulation of blood pressure;TAS|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0030507;spectrin binding;IEA|GO:0051020;GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GNB3	https://www.uniprot.org/uniprot/P16520	https://hpo.jax.org/app/browse/search?q=GNB3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=139130	http://www.informatics.jax.org/searchtool/Search.do?query=GNB3&submit=Quick%0D%4102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNB3	rs11064426	0.539537	0	0	1	0	0	intronic	intronic	intronic	GNB3	GNB3	ENSG00000111664	Na	Na	Na	Na	Na	Na	Het;A>C	39;5|3	Hom;A>C	237;0|9
N	N	-	12	70965764	70965764	G	A	snp	synonymous SNV	C2022T	V674V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PTPRB	Ptprb	ENSG00000127329	protein tyrosine phosphatase, receptor type B	chr12:70910630-71031220	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]	Calcium; Tobacco Use Disorder; Alcoholism|Substance-Related Disorders; Alcoholism; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043235;receptor complex;IDA|GO:0070821;tertiary granule membrane;TAS	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRB	https://www.uniprot.org/uniprot/P23467		https://www.ncbi.nlm.nih.gov/omim/?term=176882	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRB&submit=Quick%0D%6023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRB	rs1561799	0.120208	0.0269	0.0959	1	0	0	exonic	exonic	exonic	PTPRB	PTPRB	ENSG00000127329	synonymous SNV	synonymous SNV	unknown	PTPRB:NM_001206972:exon10:c.C2292T:p.V764V,PTPRB:NM_001109754:exon12:c.C2946T:p.V982V,PTPRB:NM_002837:exon10:c.C2292T:p.V764V,PTPRB:NM_001206971:exon9:c.C2022T:p.V674V,	PTPRB:uc010stp.2:exon9:c.C2022T:p.V674V,PTPRB:uc010sto.2:exon10:c.C2292T:p.V764V,PTPRB:uc001swa.4:exon11:c.C2682T:p.V894V,PTPRB:uc009zrr.2:exon12:c.C2583T:p.V861V,PTPRB:uc001swb.4:exon10:c.C2292T:p.V764V,PTPRB:uc001swc.4:exon12:c.C2946T:p.V982V,PTPRB:uc001swd.4:exon12:c.C2943T:p.V981V,	UNKNOWN	Het;G>A	2058;83|97	Hom;G>A	3933;3|151
N	N	-	12	71078135	71078135	G	C	snp	intronic	 	 	 	 	PTPRR	Ptprr	ENSG00000153233	protein tyrosine phosphatase, receptor type R	chr12:71031853-71314623	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]	Alcoholism; Chronic renal failure|Kidney Failure, Chronic; Waist-Hip Ratio; Parkinson Disease; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.		GO:0001701;in utero embryonic development;IEP|GO:0006470;protein dephosphorylation;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0038128;ERBB2 signaling pathway;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019901;protein kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PTPRR	https://www.uniprot.org/uniprot/Q15256		https://www.ncbi.nlm.nih.gov/omim/?term=602853	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRR&submit=Quick%0D%9644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRR	rs7958846	0.505791	0	0	1	0	0	intronic	intronic	intronic	PTPRR	PTPRR	ENSG00000153233	Na	Na	Na	Na	Na	Na	Het;G>C	320;9|11	Hom;G>C	434;0|13
N	N	-	12	71232530	71232530	C	T	snp	intronic	 	 	 	 	PTPRR	Ptprr	ENSG00000153233	protein tyrosine phosphatase, receptor type R	chr12:71031853-71314623	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]	Alcoholism; Chronic renal failure|Kidney Failure, Chronic; Waist-Hip Ratio; Parkinson Disease; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.		GO:0001701;in utero embryonic development;IEP|GO:0006470;protein dephosphorylation;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0038128;ERBB2 signaling pathway;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019901;protein kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PTPRR	https://www.uniprot.org/uniprot/Q15256		https://www.ncbi.nlm.nih.gov/omim/?term=602853	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRR&submit=Quick%0D%9644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRR	rs1606458	0.456669	0	0	1	0	0	intronic	intronic	intronic	PTPRR	PTPRR	ENSG00000153233	Na	Na	Na	Na	Na	Na	Het;C>T	47;8|3	Hom;C>T	364;0|13
N	N	-	12	71232645	71232645	C	G	snp	intronic	 	 	 	 	PTPRR	Ptprr	ENSG00000153233	protein tyrosine phosphatase, receptor type R	chr12:71031853-71314623	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]	Alcoholism; Chronic renal failure|Kidney Failure, Chronic; Waist-Hip Ratio; Parkinson Disease; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.		GO:0001701;in utero embryonic development;IEP|GO:0006470;protein dephosphorylation;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0038128;ERBB2 signaling pathway;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019901;protein kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PTPRR	https://www.uniprot.org/uniprot/Q15256		https://www.ncbi.nlm.nih.gov/omim/?term=602853	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRR&submit=Quick%0D%9644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRR	rs2467004	0.653754	0	0	1	0	0	intronic	intronic	intronic	PTPRR	PTPRR	ENSG00000153233	Na	Na	Na	Na	Na	Na	Het;C>G	301;46|19	Hom;C>G	1837;0|68
N	N	-	12	71519096	71519096	G	C	snp	UTR3	*18C>G	 	 	 	TSPAN8	Tspan8	ENSG00000127324	tetraspanin 8	chr12:71518865-71835678	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8	https://www.uniprot.org/uniprot/P19075		https://www.ncbi.nlm.nih.gov/omim/?term=600769	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8	rs1051344	0.258786	0.3400	0.3491	1	0	0	UTR3	UTR3	UTR3	TSPAN8(NM_004616:c.*18C>G)	TSPAN8(uc009zrt.1:c.*18C>G,uc001swj.1:c.*18C>G,uc001swk.1:c.*18C>G)	ENSG00000127324(ENST00000393330:c.*18C>G,ENST00000247829:c.*18C>G,ENST00000546561:c.*18C>G,ENST00000552128:c.*18C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	673;25|29	Hom;G>C	1399;2|52
N	N	-	12	71523134	71523134	A	C	snp	nonsynonymous SNV	T637G	S213A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	TSPAN8	Tspan8	ENSG00000127324	tetraspanin 8	chr12:71518865-71835678	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8	https://www.uniprot.org/uniprot/P19075		https://www.ncbi.nlm.nih.gov/omim/?term=600769	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8	rs1051334	0.250799	0.3355	0.3449	0.23	3	13	exonic	exonic	exonic	TSPAN8	TSPAN8	ENSG00000127324	nonsynonymous SNV	nonsynonymous SNV	unknown	TSPAN8:NM_004616:exon8:c.T637G:p.S213A,	TSPAN8:uc009zrt.1:exon7:c.T637G:p.S213A,TSPAN8:uc001swk.1:exon11:c.T637G:p.S213A,TSPAN8:uc001swj.1:exon8:c.T637G:p.S213A,	UNKNOWN	Het;A>C	516;12|25	Hom;A>C	1673;0|62
N	N	-	12	71523199	71523201	TAA	T	indel	intronic	 	 	 	 	TSPAN8	Tspan8	ENSG00000127324	tetraspanin 8	chr12:71518865-71835678	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8	https://www.uniprot.org/uniprot/P19075		https://www.ncbi.nlm.nih.gov/omim/?term=600769	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8	rs143821581	0	0	0.4166	1	0	0	intronic	intronic	intronic	TSPAN8	TSPAN8	ENSG00000127324	Na	Na	Na	Na	Na	Na	Het;-AA	490;10|19	Hom;-AA	1401;0|42
N	N	-	12	71526414	71526414	T	C	snp	intronic	 	 	 	 	TSPAN8	Tspan8	ENSG00000127324	tetraspanin 8	chr12:71518865-71835678	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8	https://www.uniprot.org/uniprot/P19075		https://www.ncbi.nlm.nih.gov/omim/?term=600769	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8	rs2270588	0.391973	0	0	1	0	0	intronic	intronic	intronic	TSPAN8	TSPAN8	ENSG00000127324	Na	Na	Na	Na	Na	Na	Het;T>C	385;25|16	Hom;T>C	1352;0|43
N	N	-	12	71526709	71526709	C	T	snp	intronic	 	 	 	 	TSPAN8	Tspan8	ENSG00000127324	tetraspanin 8	chr12:71518865-71835678	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8	https://www.uniprot.org/uniprot/P19075		https://www.ncbi.nlm.nih.gov/omim/?term=600769	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8	rs3816942	0.391973	0	0	1	0	0	intronic	intronic	intronic	TSPAN8	TSPAN8	ENSG00000127324	Na	Na	Na	Na	Na	Na	Het;C>T	541;30|23	Hom;C>T	1466;0|46
N	N	-	12	72028607	72028608	TA	T	indel	splicing	 	 	 	 	ZFC3H1	Zfc3h1	ENSG00000133858	zinc finger C3H1-type containing	chr12:72003252-72061505		Coronary Artery Disease; Lipoproteins	 		GO:0006396;RNA processing;IEA	GO:0005615;extracellular space;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFC3H1	https://www.uniprot.org/uniprot/O60293			http://www.informatics.jax.org/searchtool/Search.do?query=ZFC3H1&submit=Quick%0D%6878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFC3H1	rs34399921	0.432708	0	0.5258	1	0	0	splicing	splicing	splicing	ZFC3H1	ZFC3H1	ENSG00000133858	Na	Na	Na	Na	Na	Na	Het;-A	512;8|30	Hom;-A	1051;6|54
N	N	-	12	7249863	7249863	A	G	snp	intronic	 	 	 	 	C1RL	C1rl	ENSG00000139178	complement C1r subcomponent like	chr12:7242183-7261869		Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma; Lymphoma, Non-Hodgkin; Tobacco Use Disorder	 		GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0045087;innate immune response;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C1RL	https://www.uniprot.org/uniprot/Q9NZP8		https://www.ncbi.nlm.nih.gov/omim/?term=608974	http://www.informatics.jax.org/searchtool/Search.do?query=C1RL&submit=Quick%0D%7843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1RL	rs11613834	0.86262	0	0	1	0	0	intronic	intronic	intronic	C1RL	C1RL	ENSG00000139178	Na	Na	Na	Na	Na	Na	Het;A>G	213;13|9	Hom;A>G	582;0|20
N	N	-	12	7342343	7342343	C	G	snp	UTR5	-631C>G	 	 	 	PEX5	Pex5	ENSG00000139197	peroxisomal biogenesis factor 5	chr12:7341281-7371170	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]	ZELLWEGER SYNDROME	Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth.	E3 ubiquitin ligases ubiquitinate target proteins	GO:0000038;very long-chain fatty acid metabolic process;IEA|GO:0001764;neuron migration;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006810;transport;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007006;mitochondrial membrane organization;IEA|GO:0007029;endoplasmic reticulum organization;IEA|GO:0007031;peroxisome organization;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IGI|GO:0016560;protein import into peroxisome matrix, docking;IDA|GO:0016567;protein ubiquitination;TAS|GO:0021795;cerebral cortex cell migration;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0048468;cell development;IEA|GO:0050905;neuromuscular process;IEA|GO:1901094;negative regulation of protein homotetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA	GO:0000268;peroxisome targeting sequence binding;IDA|GO:0005052;peroxisome matrix targeting signal-1 binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX5	https://www.uniprot.org/uniprot/P50542	https://hpo.jax.org/app/browse/search?q=PEX5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600414	http://www.informatics.jax.org/searchtool/Search.do?query=PEX5&submit=Quick%0D%7851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX5	rs12227917	0.400359	0	0	1	0	0	UTR5	UTR5	UTR5	PEX5(NM_001131025:c.-631C>G,NM_001131023:c.-631C>G,NM_001131024:c.-631C>G)	PEX5(uc001qsw.3:c.-631C>G,uc010sgc.2:c.-631C>G,uc001qsu.3:c.-631C>G)	ENSG00000139197(ENST00000266563:c.-631C>G,ENST00000434354:c.-631C>G,ENST00000544456:c.-631C>G,ENST00000545574:c.-631C>G,ENST00000420616:c.-631C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	529;6|15	Hom;C>G	493;0|12
N	N	-	12	7342364	7342366	AGG	A	indel	UTR5	-610_-608delinsA	 	 	 	PEX5	Pex5	ENSG00000139197	peroxisomal biogenesis factor 5	chr12:7341281-7371170	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]	ZELLWEGER SYNDROME	Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth.	E3 ubiquitin ligases ubiquitinate target proteins	GO:0000038;very long-chain fatty acid metabolic process;IEA|GO:0001764;neuron migration;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006810;transport;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007006;mitochondrial membrane organization;IEA|GO:0007029;endoplasmic reticulum organization;IEA|GO:0007031;peroxisome organization;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IGI|GO:0016560;protein import into peroxisome matrix, docking;IDA|GO:0016567;protein ubiquitination;TAS|GO:0021795;cerebral cortex cell migration;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0048468;cell development;IEA|GO:0050905;neuromuscular process;IEA|GO:1901094;negative regulation of protein homotetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA	GO:0000268;peroxisome targeting sequence binding;IDA|GO:0005052;peroxisome matrix targeting signal-1 binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX5	https://www.uniprot.org/uniprot/P50542	https://hpo.jax.org/app/browse/search?q=PEX5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600414	http://www.informatics.jax.org/searchtool/Search.do?query=PEX5&submit=Quick%0D%7851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX5	rs200807978	0	0	0	1	0	0	UTR5	UTR5	UTR5	PEX5(NM_001131025:c.-610_-608delinsA)	PEX5(uc001qsw.3:c.-610_-608delinsA)	ENSG00000139197(ENST00000420616:c.-610_-608delinsA)	Na	Na	Na	Na	Na	Na	Het;-GG	539;4|14	Hom;-GG	533;0|14
N	N	-	12	7342371	7342386	CCGGGGCCGCGTCCCT	C	indel	UTR5	-603_-588delinsC	 	 	 	PEX5	Pex5	ENSG00000139197	peroxisomal biogenesis factor 5	chr12:7341281-7371170	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]	ZELLWEGER SYNDROME	Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth.	E3 ubiquitin ligases ubiquitinate target proteins	GO:0000038;very long-chain fatty acid metabolic process;IEA|GO:0001764;neuron migration;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006810;transport;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007006;mitochondrial membrane organization;IEA|GO:0007029;endoplasmic reticulum organization;IEA|GO:0007031;peroxisome organization;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IGI|GO:0016560;protein import into peroxisome matrix, docking;IDA|GO:0016567;protein ubiquitination;TAS|GO:0021795;cerebral cortex cell migration;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0048468;cell development;IEA|GO:0050905;neuromuscular process;IEA|GO:1901094;negative regulation of protein homotetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA	GO:0000268;peroxisome targeting sequence binding;IDA|GO:0005052;peroxisome matrix targeting signal-1 binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX5	https://www.uniprot.org/uniprot/P50542	https://hpo.jax.org/app/browse/search?q=PEX5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600414	http://www.informatics.jax.org/searchtool/Search.do?query=PEX5&submit=Quick%0D%7851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX5	rs200032511	0	0	0	1	0	0	UTR5	UTR5	UTR5	PEX5(NM_001131025:c.-603_-588delinsC)	PEX5(uc001qsw.3:c.-603_-588delinsC)	ENSG00000139197(ENST00000420616:c.-603_-588delinsC)	Na	Na	Na	Na	Na	Na	Het;-CGGGGCCGCGTCCCT	539;4|12	Hom;-CGGGGCCGCGTCCCT	483;0|12
N	N	-	12	7355898	7355898	C	G	snp	intronic	 	 	 	 	PEX5	Pex5	ENSG00000139197	peroxisomal biogenesis factor 5	chr12:7341281-7371170	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]	ZELLWEGER SYNDROME	Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth.	E3 ubiquitin ligases ubiquitinate target proteins	GO:0000038;very long-chain fatty acid metabolic process;IEA|GO:0001764;neuron migration;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006810;transport;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007006;mitochondrial membrane organization;IEA|GO:0007029;endoplasmic reticulum organization;IEA|GO:0007031;peroxisome organization;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IGI|GO:0016560;protein import into peroxisome matrix, docking;IDA|GO:0016567;protein ubiquitination;TAS|GO:0021795;cerebral cortex cell migration;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0048468;cell development;IEA|GO:0050905;neuromuscular process;IEA|GO:1901094;negative regulation of protein homotetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA	GO:0000268;peroxisome targeting sequence binding;IDA|GO:0005052;peroxisome matrix targeting signal-1 binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX5	https://www.uniprot.org/uniprot/P50542	https://hpo.jax.org/app/browse/search?q=PEX5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600414	http://www.informatics.jax.org/searchtool/Search.do?query=PEX5&submit=Quick%0D%7851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX5	rs4883087	0.711262	0	0	1	0	0	intronic	intronic	intronic	PEX5	PEX5	ENSG00000139197	Na	Na	Na	Na	Na	Na	Het;C>G	181;6|6	Hom;C>G	608;0|16
N	N	-	12	7363574	7363574	C	G	snp	UTR3	*755C>G	 	 	 	PEX5	Pex5	ENSG00000139197	peroxisomal biogenesis factor 5	chr12:7341281-7371170	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]	ZELLWEGER SYNDROME	Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth.	E3 ubiquitin ligases ubiquitinate target proteins	GO:0000038;very long-chain fatty acid metabolic process;IEA|GO:0001764;neuron migration;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006810;transport;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007006;mitochondrial membrane organization;IEA|GO:0007029;endoplasmic reticulum organization;IEA|GO:0007031;peroxisome organization;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IGI|GO:0016560;protein import into peroxisome matrix, docking;IDA|GO:0016567;protein ubiquitination;TAS|GO:0021795;cerebral cortex cell migration;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045046;protein import into peroxisome membrane;IMP|GO:0048468;cell development;IEA|GO:0050905;neuromuscular process;IEA|GO:1901094;negative regulation of protein homotetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA	GO:0000268;peroxisome targeting sequence binding;IDA|GO:0005052;peroxisome matrix targeting signal-1 binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX5	https://www.uniprot.org/uniprot/P50542	https://hpo.jax.org/app/browse/search?q=PEX5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600414	http://www.informatics.jax.org/searchtool/Search.do?query=PEX5&submit=Quick%0D%7851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX5	rs1057225	0.432109	0	0	1	0	0	UTR3	UTR3	UTR3	PEX5(NM_001131025:c.*755C>G,NM_001131023:c.*755C>G,NM_001131024:c.*755C>G,NM_001300789:c.*755C>G,NM_000319:c.*755C>G)	PEX5(uc001qsw.3:c.*755C>G,uc010sgc.2:c.*755C>G,uc001qsu.3:c.*755C>G,uc010sgd.2:c.*755C>G,uc001qsv.3:c.*755C>G)	ENSG00000139197(ENST00000266563:c.*755C>G,ENST00000266564:c.*755C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1110;55|53	Hom;C>G	2667;0|94
N	N	-	12	7393331	7393331	G	A	snp	ncRNA_intronic	 	 	 	 	AC018653.2																		rs2218829	0.609425	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	PEX5(dist=22162),ACSM4(dist=63597)	PEX5(dist=22162),ACSM4(dist=63597)	ENSG00000256480	Na	Na	Na	Na	Na	Na	Het;G>A	33;2|2	Hom;G>A	195;0|6
N	N	-	12	7393362	7393362	A	G	snp	ncRNA_intronic	 	 	 	 	AC018653.2																		rs2218830	0.609425	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	PEX5(dist=22193),ACSM4(dist=63566)	PEX5(dist=22193),ACSM4(dist=63566)	ENSG00000256480	Na	Na	Na	Na	Na	Na	Het;A>G	92;2|5	Hom;A>G	183;0|5
N	N	-	12	740009	740009	C	G	snp	intronic	 	 	 	 	NINJ2	Ninj2	ENSG00000171840	ninjurin 2	chr12:673462-772945	The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011]	Schizophrenia; Stroke; Apoplexy|Brain Ischemia|Stroke; Cholesterol, HDL; stroke	 		GO:0007155;cell adhesion;IEA|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007399;nervous system development;TAS|GO:0042246;tissue regeneration;IEA	GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NINJ2			https://www.ncbi.nlm.nih.gov/omim/?term=607297	http://www.informatics.jax.org/searchtool/Search.do?query=NINJ2&submit=Quick%0D%13023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NINJ2	rs34038797	0.421126	0	0	1	0	0	intronic	intronic	intronic	NINJ2	NINJ2	ENSG00000171840	Na	Na	Na	Na	Na	Na	Het;C>G	346;15|16	Hom;C>G	1106;0|41
N	N	-	12	7410528	7410528	C	T	snp	intergenic	 	 	 	 	AC018653.2																		rs10842265	0.581669	0	0	1	0	0	intergenic	intergenic	intergenic	PEX5(dist=39359),ACSM4(dist=46400)	PEX5(dist=39359),ACSM4(dist=46400)	ENSG00000256480(dist=16946),ENSG00000215009(dist=46352)	Na	Na	Na	Na	Na	Na	Het;C>T	439;15|21	Hom;C>T	228;0|9
N	N	-	12	7470566	7470566	T	A	snp	intronic	 	 	 	 	ACSM4	Acsm4	ENSG00000215009	acyl-CoA synthetase medium chain family member 4	chr12:7456880-7481320		Acquired Immunodeficiency Syndrome|Disease Progression	 	Conjugation of salicylate with glycine	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0008152;metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;IBA|GO:0004321;fatty-acyl-CoA synthase activity;IEA|GO:0005524;ATP binding;IEA|GO:0015645;fatty acid ligase activity;IBA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047760;butyrate-CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSM4			https://www.ncbi.nlm.nih.gov/omim/?term=614360	http://www.informatics.jax.org/searchtool/Search.do?query=ACSM4&submit=Quick%0D%18297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSM4	rs7971931	0.224042	0	0	1	0	0	intronic	intronic	intronic	ACSM4	ACSM4	ENSG00000215009	Na	Na	Na	Na	Na	Na	Het;T>A	264;6|10	Hom;T>A	417;1|15
N	N	-	12	75231982	75231982	A	G	snp	intergenic	 	 	 	 	AC123904.3																		rs4882660	0.666134	0	0	1	0	0	intergenic	intergenic	intergenic	ATXN7L3B(dist=296750),KCNC2(dist=201876)	ATXN7L3B(dist=296750),KCNC2(dist=201876)	ENSG00000257998(dist=109351),ENSG00000257434(dist=182767)	Na	Na	Na	Na	Na	Na	Het;A>G	748;24|35	Hom;A>G	2250;0|83
N	N	-	12	7525865	7525865	G	C	snp	intronic	 	 	 	 	CD163L1	 	ENSG00000177675	CD163 molecule like 1	chr12:7499281-7632493	This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder	 		GO:0006898;receptor-mediated endocytosis;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005044;scavenger receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD163L1			https://www.ncbi.nlm.nih.gov/omim/?term=606079	http://www.informatics.jax.org/searchtool/Search.do?query=CD163L1&submit=Quick%0D%14067ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD163L1	rs11053518	0.5623	0.6552	0.6603	1	0	0	intronic	intronic	intronic	CD163L1	CD163L1	ENSG00000177675	Na	Na	Na	Na	Na	Na	Het;G>C	222;7|9	Hom;G>C	349;0|11
N	N	-	12	75874913	75874913	G	A	snp	intronic	 	 	 	 	GLIPR1	Glipr1	ENSG00000139278	GLI pathogenesis related 1	chr12:75874460-75897633	This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; monocyte chemoattractant protein 1 (66-77)	Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times.	Neutrophil degranulation	GO:0019216;regulation of lipid metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1	https://www.uniprot.org/uniprot/P48060		https://www.ncbi.nlm.nih.gov/omim/?term=602692	http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1&submit=Quick%0D%7863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1	rs2242435	0.345447	0	0	1	0	0	intronic	intronic	intronic	GLIPR1	GLIPR1	ENSG00000139278	Na	Na	Na	Na	Na	Na	Het;G>A	183;6|9	Hom;G>A	533;0|19
N	N	-	12	75955485	75955485	T	C	snp	intergenic	 	 	 	 	KRR1	Krr1	ENSG00000111615	KRR1, small subunit processome component homolog	chr12:75890684-75905416		monocyte chemoattractant protein 1 (66-77); Type 2 Diabetes| edema | rosiglitazone	 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0045171;intercellular bridge;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRR1	https://www.uniprot.org/uniprot/Q13601		https://www.ncbi.nlm.nih.gov/omim/?term=612817	http://www.informatics.jax.org/searchtool/Search.do?query=KRR1&submit=Quick%0D%4093ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRR1	rs1611928	0.71246	0	0	1	0	0	intergenic	intergenic	intergenic	KRR1(dist=50067),PHLDA1(dist=463742)	KRR1(dist=50067),SNORA70(dist=127438)	ENSG00000111615(dist=50084),ENSG00000258077(dist=1497)	Na	Na	Na	Na	Na	Na	Het;T>C	232;20|12	Hom;T>C	1173;0|38
N	N	-	12	75994963	75994963	T	A	snp	ncRNA_exonic	 	 	 	 	AC022507.1																		rs7316871	0.881789	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	KRR1(dist=89545),PHLDA1(dist=424264)	KRR1(dist=89545),SNORA70(dist=87960)	ENSG00000257777	Na	Na	Na	Na	Na	Na	Het;T>A	132;1|7	Hom;T>A	106;0|5
N	N	-	12	772458	772458	C	T	snp	ncRNA_intronic	 	 	 	 	AC021054.1																		rs3782851	0.101038	0.0478	0.0927	1	0	0	intronic	intronic	ncRNA_intronic	NINJ2	NINJ2	ENSG00000177406	Na	Na	Na	Na	Na	Na	Het;C>T	586;30|26	Hom;C>T	1687;2|56
N	N	-	12	77438607	77438607	T	C	snp	intronic	 	 	 	 	E2F7	E2f7	ENSG00000165891	E2F transcription factor 7	chr12:77415027-77459360	E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]	Bone Density; Brain; Smoking; Subcutaneous Fat; Echocardiography; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Iron; Celiac Disease|; Macular Degeneration; Atrial Natriuretic Factor; Central Nervous System; Erythrocytes; Blood Coagulation Factors; Creatinine; Blood Pressure	Mice homozygous for a knock-out allele develop normally through puberty and survive to old age.	TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001890;placenta development;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IDA|GO:0032466;negative regulation of cytokinesis;IEA|GO:0032877;positive regulation of DNA endoreduplication;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0060707;trophoblast giant cell differentiation;IEA|GO:0060718;chorionic trophoblast cell differentiation;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0016607;nuclear speck;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/E2F7			https://www.ncbi.nlm.nih.gov/omim/?term=612046	http://www.informatics.jax.org/searchtool/Search.do?query=E2F7&submit=Quick%0D%11647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F7	rs2242383	0.497804	0.5805	0.5622	1	0	0	intronic	intronic	intronic	E2F7	E2F7	ENSG00000165891	Na	Na	Na	Na	Na	Na	Het;T>C	769;27|30	Hom;T>C	1425;0|47
N	N	-	12	77808196	77808196	C	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000231121																		rs4761379	0.478435	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	E2F7(dist=348836),NAV3(dist=416873)	E2F7(dist=348836),NAV3(dist=416873)	ENSG00000231121	Na	Na	Na	Na	Na	Na	Het;C>T	172;6|8	Hom;C>T	499;0|18
N	N	-	12	77958190	77958190	T	A	snp	ncRNA_intronic	 	 	 	 	ENSG00000231121																		rs711094	0.539137	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	E2F7(dist=498830),NAV3(dist=266879)	E2F7(dist=498830),NAV3(dist=266879)	ENSG00000231121	Na	Na	Na	Na	Na	Na	Het;T>A	238;8|11	Hom;T>A	323;0|13
N	N	-	12	7803562	7803562	C	A	snp	intronic	 	 	 	 	APOBEC1	Apobec1	ENSG00000111701	apolipoprotein B mRNA editing enzyme catalytic subunit 1	chr12:7801996-7818499	This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]	Biliary calculi|Gallstones; Hepatitis C|Remission, Spontaneous; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit abnormal lipid homeostasis.	Formation of the Editosome	GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006641;triglyceride metabolic process;IEA|GO:0006970;response to osmotic stress;IEA|GO:0009972;cytidine deamination;IEA|GO:0010043;response to zinc ion;IEA|GO:0010332;response to gamma radiation;IEA|GO:0016554;cytidine to uridine editing;TAS|GO:0016556;mRNA modification;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042953;lipoprotein transport;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0045471;response to ethanol;IEA|GO:0048255;mRNA stabilization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051607;defense response to virus;IEA|GO:0070383;DNA cytosine deamination;IEA|GO:0080111;DNA demethylation;IEA|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IEA|GO:0090366;positive regulation of mRNA modification;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;TAS|GO:0003729;mRNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004126;cytidine deaminase activity;TAS|GO:0004131;cytosine deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0008047;enzyme activator activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0017091;AU-rich element binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043021;ribonucleoprotein complex binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOBEC1	https://www.uniprot.org/uniprot/P41238		https://www.ncbi.nlm.nih.gov/omim/?term=600130	http://www.informatics.jax.org/searchtool/Search.do?query=APOBEC1&submit=Quick%0D%4116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOBEC1	rs10431308	0.64357	0	0	1	0	0	intronic	intronic	intronic	APOBEC1	APOBEC1	ENSG00000111701	Na	Na	Na	Na	Na	Na	Het;C>A	405;25|18	Hom;C>A	755;0|25
N	N	-	12	7805236	7805236	C	G	snp	nonsynonymous SNV	G105C	M35I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	APOBEC1	Apobec1	ENSG00000111701	apolipoprotein B mRNA editing enzyme catalytic subunit 1	chr12:7801996-7818499	This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]	Biliary calculi|Gallstones; Hepatitis C|Remission, Spontaneous; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit abnormal lipid homeostasis.	Formation of the Editosome	GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006641;triglyceride metabolic process;IEA|GO:0006970;response to osmotic stress;IEA|GO:0009972;cytidine deamination;IEA|GO:0010043;response to zinc ion;IEA|GO:0010332;response to gamma radiation;IEA|GO:0016554;cytidine to uridine editing;TAS|GO:0016556;mRNA modification;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042953;lipoprotein transport;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0045471;response to ethanol;IEA|GO:0048255;mRNA stabilization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051607;defense response to virus;IEA|GO:0070383;DNA cytosine deamination;IEA|GO:0080111;DNA demethylation;IEA|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IEA|GO:0090366;positive regulation of mRNA modification;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;TAS|GO:0003729;mRNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004126;cytidine deaminase activity;TAS|GO:0004131;cytosine deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0008047;enzyme activator activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0017091;AU-rich element binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043021;ribonucleoprotein complex binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOBEC1	https://www.uniprot.org/uniprot/P41238		https://www.ncbi.nlm.nih.gov/omim/?term=600130	http://www.informatics.jax.org/searchtool/Search.do?query=APOBEC1&submit=Quick%0D%4116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOBEC1	rs2302515	0.659145	0.7787	0.7853	0.08	1	13	exonic	exonic	exonic	APOBEC1	APOBEC1	ENSG00000111701	nonsynonymous SNV	nonsynonymous SNV	unknown	APOBEC1:NM_005889:exon2:c.G105C:p.M35I,APOBEC1:NM_001644:exon3:c.G240C:p.M80I,APOBEC1:NM_001304566:exon4:c.G240C:p.M80I,	APOBEC1:uc001qtb.3:exon3:c.G240C:p.M80I,APOBEC1:uc001qtc.3:exon2:c.G105C:p.M35I,	UNKNOWN	Het;C>G	1852;80|81	Hom;C>G	3801;0|130
N	N	-	12	7805467	7805467	C	T	snp	intronic	 	 	 	 	APOBEC1	Apobec1	ENSG00000111701	apolipoprotein B mRNA editing enzyme catalytic subunit 1	chr12:7801996-7818499	This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]	Biliary calculi|Gallstones; Hepatitis C|Remission, Spontaneous; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit abnormal lipid homeostasis.	Formation of the Editosome	GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006641;triglyceride metabolic process;IEA|GO:0006970;response to osmotic stress;IEA|GO:0009972;cytidine deamination;IEA|GO:0010043;response to zinc ion;IEA|GO:0010332;response to gamma radiation;IEA|GO:0016554;cytidine to uridine editing;TAS|GO:0016556;mRNA modification;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042953;lipoprotein transport;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0045471;response to ethanol;IEA|GO:0048255;mRNA stabilization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051607;defense response to virus;IEA|GO:0070383;DNA cytosine deamination;IEA|GO:0080111;DNA demethylation;IEA|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IEA|GO:0090366;positive regulation of mRNA modification;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;TAS|GO:0003729;mRNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004126;cytidine deaminase activity;TAS|GO:0004131;cytosine deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0008047;enzyme activator activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0017091;AU-rich element binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043021;ribonucleoprotein complex binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOBEC1	https://www.uniprot.org/uniprot/P41238		https://www.ncbi.nlm.nih.gov/omim/?term=600130	http://www.informatics.jax.org/searchtool/Search.do?query=APOBEC1&submit=Quick%0D%4116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOBEC1	rs2080127	0.648363	0.7714	0.7821	1	0	0	intronic	intronic	intronic	APOBEC1	APOBEC1	ENSG00000111701	Na	Na	Na	Na	Na	Na	Het;C>T	64;16|5	Hom;C>T	984;0|39
N	N	-	12	7818348	7818354	GACACAC	G	indel	intronic	 	 	 	 	APOBEC1	Apobec1	ENSG00000111701	apolipoprotein B mRNA editing enzyme catalytic subunit 1	chr12:7801996-7818499	This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]	Biliary calculi|Gallstones; Hepatitis C|Remission, Spontaneous; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit abnormal lipid homeostasis.	Formation of the Editosome	GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006641;triglyceride metabolic process;IEA|GO:0006970;response to osmotic stress;IEA|GO:0009972;cytidine deamination;IEA|GO:0010043;response to zinc ion;IEA|GO:0010332;response to gamma radiation;IEA|GO:0016554;cytidine to uridine editing;TAS|GO:0016556;mRNA modification;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042953;lipoprotein transport;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0045471;response to ethanol;IEA|GO:0048255;mRNA stabilization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051607;defense response to virus;IEA|GO:0070383;DNA cytosine deamination;IEA|GO:0080111;DNA demethylation;IEA|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IEA|GO:0090366;positive regulation of mRNA modification;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;TAS|GO:0003729;mRNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004126;cytidine deaminase activity;TAS|GO:0004131;cytosine deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0008047;enzyme activator activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0017091;AU-rich element binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043021;ribonucleoprotein complex binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOBEC1	https://www.uniprot.org/uniprot/P41238		https://www.ncbi.nlm.nih.gov/omim/?term=600130	http://www.informatics.jax.org/searchtool/Search.do?query=APOBEC1&submit=Quick%0D%4116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOBEC1	Na	0	0	0	1	0	0	intronic	intronic	intronic	APOBEC1	APOBEC1	ENSG00000111701	Na	Na	Na	Na	Na	Na	Het;-ACACAC	448;7|17	Hom;-ACACAC	912;1|17
N	N	-	12	78225186	78225186	C	A	snp	UTR5	-56C>A	 	 	 	NAV3	Nav3	ENSG00000067798	neuron navigator 3	chr12:78224685-78606790	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]	Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma	 			GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA	GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAV3	https://www.uniprot.org/uniprot/Q8IVL0		https://www.ncbi.nlm.nih.gov/omim/?term=611629	http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3	rs17195772	0.150559	0	0	1	0	0	UTR5	UTR5	UTR5	NAV3(NM_014903:c.-56C>A,NM_001024383:c.-56C>A)	NAV3(uc001syo.3:c.-56C>A,uc001syp.3:c.-56C>A)	ENSG00000067798(ENST00000549464:c.-56C>A,ENST00000266692:c.-56C>A,ENST00000228327:c.-56C>A,ENST00000397909:c.-56C>A,ENST00000536525:c.-56C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	347;5|14	Hom;C>A	476;0|17
N	N	-	12	78400884	78400884	G	A	snp	synonymous SNV	G1566A	P522P	hydrophobic,neutral	hydrophobic,neutral	NAV3	Nav3	ENSG00000067798	neuron navigator 3	chr12:78224685-78606790	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]	Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma	 			GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA	GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAV3	https://www.uniprot.org/uniprot/Q8IVL0		https://www.ncbi.nlm.nih.gov/omim/?term=611629	http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3	rs34276383	0.148562	0.1196	0.1374	1	0	0	exonic	exonic	exonic	NAV3	NAV3	ENSG00000067798	synonymous SNV	synonymous SNV	unknown	NAV3:NM_014903:exon8:c.G1566A:p.P522P,NAV3:NM_001024383:exon8:c.G1566A:p.P522P,	NAV3:uc001syp.3:exon8:c.G1566A:p.P522P,NAV3:uc001syo.3:exon8:c.G1566A:p.P522P,	UNKNOWN	Het;G>A	1999;99|97	Hom;G>A	4387;0|152
N	N	-	12	78524769	78524769	G	T	snp	ncRNA_exonic	 	 	 	 	FAM213AP1																		rs2595032	0.275958	0	0	1	0	0	intronic	intronic	ncRNA_exonic	NAV3	NAV3	ENSG00000257220	Na	Na	Na	Na	Na	Na	Het;G>T	92;1|5	Hom;G>T	71;0|4
N	N	-	12	78591249	78591249	C	A	snp	intronic	 	 	 	 	NAV3	Nav3	ENSG00000067798	neuron navigator 3	chr12:78224685-78606790	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]	Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma	 			GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA	GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAV3	https://www.uniprot.org/uniprot/Q8IVL0		https://www.ncbi.nlm.nih.gov/omim/?term=611629	http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3	rs981213	0.635383	0	0	1	0	0	intronic	intronic	intronic	NAV3	NAV3	ENSG00000067798	Na	Na	Na	Na	Na	Na	Het;C>A	380;24|19	Hom;C>A	1020;0|35
N	N	-	12	78593070	78593075	AAATTT	A	indel	intronic	 	 	 	 	NAV3	Nav3	ENSG00000067798	neuron navigator 3	chr12:78224685-78606790	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]	Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma	 			GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA	GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAV3	https://www.uniprot.org/uniprot/Q8IVL0		https://www.ncbi.nlm.nih.gov/omim/?term=611629	http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3	rs140965470	0.321086	0.1728	0.3412	1	0	0	intronic	intronic	intronic	NAV3	NAV3	ENSG00000067798	Na	Na	Na	Na	Na	Na	Het;-AATTT	395;10|11	Hom;-AATTT	548;0|13
N	N	-	12	78594405	78594405	T	A	snp	intronic	 	 	 	 	NAV3	Nav3	ENSG00000067798	neuron navigator 3	chr12:78224685-78606790	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]	Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma	 			GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA	GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAV3	https://www.uniprot.org/uniprot/Q8IVL0		https://www.ncbi.nlm.nih.gov/omim/?term=611629	http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3	rs3214044	0.582069	0	0.4323	1	0	0	intronic	intronic	intronic	NAV3	NAV3	ENSG00000067798	Na	Na	Na	Na	Na	Na	Het;T>A	608;19|26	Hom;T>A	569;3|29
N	N	-	12	78598891	78598891	G	A	snp	synonymous SNV	G7011A	P2337P	hydrophobic,neutral	hydrophobic,neutral	NAV3	Nav3	ENSG00000067798	neuron navigator 3	chr12:78224685-78606790	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]	Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma	 			GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA	GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAV3	https://www.uniprot.org/uniprot/Q8IVL0		https://www.ncbi.nlm.nih.gov/omim/?term=611629	http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3	rs9971904	0.635783	0.4571	0.5258	1	0	0	exonic	exonic	exonic	NAV3	NAV3	ENSG00000067798	synonymous SNV	synonymous SNV	unknown	NAV3:NM_014903:exon38:c.G6945A:p.P2315P,NAV3:NM_001024383:exon39:c.G7011A:p.P2337P,	NAV3:uc001syp.3:exon39:c.G7011A:p.P2337P,NAV3:uc010sub.2:exon28:c.G5382A:p.P1794P,NAV3:uc009zsf.3:exon23:c.G3438A:p.P1146P,NAV3:uc001syo.3:exon38:c.G6945A:p.P2315P,	UNKNOWN	Het;G>A	1274;47|59	Hom;G>A	2436;0|88
N	N	-	12	79303504	79303504	A	G	snp	intronic	 	 	 	 	SYT1	Syt1	ENSG00000067715	synaptotagmin 1	chr12:79257773-79845788	The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]	Exercise Test; Epilepsy|Mental Retardation; Cholesterol, HDL; Lipids; Body Weight; Body Mass Index; serum creatinine; Respiratory Function Tests; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Life Expectancy	Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability.	GABA synthesis, release, reuptake and degradation	GO:0005513;detection of calcium ion;TAS|GO:0006906;vesicle fusion;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007420;brain development;IEA|GO:0014047;glutamate secretion;TAS|GO:0014059;regulation of dopamine secretion;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0031340;positive regulation of vesicle fusion;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IEA|GO:0048278;vesicle docking;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;ISS|GO:0061024;membrane organization;TAS|GO:0071277;cellular response to calcium ion;ISS|GO:0098746;fast, calcium ion-dependent exocytosis of neurotransmitter;ISS|GO:1903305;regulation of regulated secretory pathway;ISS|GO:1903861;positive regulation of dendrite extension;IDA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;IEA|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031045;dense core granule;IEA|GO:0031201;SNARE complex;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;ISS|GO:0043195;terminal bouton;IEA|GO:0043229;intracellular organelle;IEA|GO:0044306;neuron projection terminus;IEA|GO:0045202;synapse;IEA|GO:0060076;excitatory synapse;IEA|GO:0060201;clathrin-sculpted acetylcholine transport vesicle membrane;TAS|GO:0060203;clathrin-sculpted glutamate transport vesicle membrane;TAS|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS	GO:0000149;SNARE binding;ISS|GO:0001786;phosphatidylserine binding;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0005544;calcium-dependent phospholipid binding;ISS|GO:0005545;1-phosphatidylinositol binding;TAS|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0008022;protein C-terminus binding;IEA|GO:0017075;syntaxin-1 binding;TAS|GO:0019905;syntaxin binding;IEA|GO:0030276;clathrin binding;IBA|GO:0030348;syntaxin-3 binding;IEA|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0050750;low-density lipoprotein particle receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SYT1	https://www.uniprot.org/uniprot/P21579	https://hpo.jax.org/app/browse/search?q=SYT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=185605	http://www.informatics.jax.org/searchtool/Search.do?query=SYT1&submit=Quick%0D%1262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT1	rs9308317	0.722444	0	0	1	0	0	intronic	intronic	intronic	SYT1	SYT1	ENSG00000067715	Na	Na	Na	Na	Na	Na	Het;A>G	357;9|15	Hom;A>G	1220;0|45
N	N	-	12	79403715	79403715	T	C	snp	ncRNA_intronic	 	 	 	 	AC090709.1																		rs4842309	0.834465	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SYT1	SYT1	ENSG00000257191	Na	Na	Na	Na	Na	Na	Het;T>C	53;8|3	Hom;T>C	376;0|10
N	N	-	12	79611374	79611374	C	T	snp	synonymous SNV	C75T	N25N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SYT1	Syt1	ENSG00000067715	synaptotagmin 1	chr12:79257773-79845788	The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]	Exercise Test; Epilepsy|Mental Retardation; Cholesterol, HDL; Lipids; Body Weight; Body Mass Index; serum creatinine; Respiratory Function Tests; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Life Expectancy	Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability.	GABA synthesis, release, reuptake and degradation	GO:0005513;detection of calcium ion;TAS|GO:0006906;vesicle fusion;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007420;brain development;IEA|GO:0014047;glutamate secretion;TAS|GO:0014059;regulation of dopamine secretion;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0031340;positive regulation of vesicle fusion;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IEA|GO:0048278;vesicle docking;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;ISS|GO:0061024;membrane organization;TAS|GO:0071277;cellular response to calcium ion;ISS|GO:0098746;fast, calcium ion-dependent exocytosis of neurotransmitter;ISS|GO:1903305;regulation of regulated secretory pathway;ISS|GO:1903861;positive regulation of dendrite extension;IDA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;IEA|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031045;dense core granule;IEA|GO:0031201;SNARE complex;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;ISS|GO:0043195;terminal bouton;IEA|GO:0043229;intracellular organelle;IEA|GO:0044306;neuron projection terminus;IEA|GO:0045202;synapse;IEA|GO:0060076;excitatory synapse;IEA|GO:0060201;clathrin-sculpted acetylcholine transport vesicle membrane;TAS|GO:0060203;clathrin-sculpted glutamate transport vesicle membrane;TAS|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS	GO:0000149;SNARE binding;ISS|GO:0001786;phosphatidylserine binding;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0005544;calcium-dependent phospholipid binding;ISS|GO:0005545;1-phosphatidylinositol binding;TAS|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0008022;protein C-terminus binding;IEA|GO:0017075;syntaxin-1 binding;TAS|GO:0019905;syntaxin binding;IEA|GO:0030276;clathrin binding;IBA|GO:0030348;syntaxin-3 binding;IEA|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0050750;low-density lipoprotein particle receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SYT1	https://www.uniprot.org/uniprot/P21579	https://hpo.jax.org/app/browse/search?q=SYT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=185605	http://www.informatics.jax.org/searchtool/Search.do?query=SYT1&submit=Quick%0D%1262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT1	rs2037743	0.625799	0.7167	0.6681	1	0	0	exonic	exonic	exonic	SYT1	SYT1	ENSG00000067715	synonymous SNV	synonymous SNV	unknown	SYT1:NM_001291901:exon3:c.C75T:p.N25N,SYT1:NM_005639:exon4:c.C75T:p.N25N,SYT1:NM_001135806:exon3:c.C75T:p.N25N,SYT1:NM_001135805:exon5:c.C75T:p.N25N,	SYT1:uc001syu.3:exon3:c.C75T:p.N25N,SYT1:uc001syt.3:exon4:c.C75T:p.N25N,SYT1:uc001sys.3:exon5:c.C75T:p.N25N,SYT1:uc001syv.3:exon3:c.C75T:p.N25N,	UNKNOWN	Het;C>T	2047;112|100	Hom;C>T	4716;1|176
N	N	-	12	79747487	79747487	T	C	snp	ncRNA_intronic	 	 	 	 	AC027288.3																		rs1732664	0.797524	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SYT1	SYT1	ENSG00000257894	Na	Na	Na	Na	Na	Na	Het;T>C	598;18|22	Hom;T>C	690;0|21
N	N	-	12	80672064	80672064	A	G	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs1376384	0.683307	0	0.6985	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;A>G	1009;99|53	Hom;A>G	3996;0|148
N	N	-	12	80707153	80707153	C	T	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs1037335	0.564097	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;C>T	115;6|5	Hom;C>T	144;0|5
N	N	-	12	80730664	80730664	G	A	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs10862093	0.487021	0.5211	0.6168	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;G>A	1427;42|63	Hom;G>A	2436;0|94
N	N	-	12	80735771	80735771	T	C	snp	synonymous SNV	T5067C	N1689N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs10778727	0.494808	0.5295	0.6151	1	0	0	exonic	exonic	exonic	OTOGL	OTOGL	ENSG00000165899	synonymous SNV	synonymous SNV	unknown	OTOGL:NM_173591:exon43:c.T5067C:p.N1689N,	OTOGL:uc001szd.3:exon43:c.T5067C:p.N1689N,	UNKNOWN	Het;T>C	2046;47|91	Hom;T>C	2679;2|101
N	N	-	12	80747242	80747242	A	G	snp	nonsynonymous SNV	A5518G	I1840V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs7297767	0.834065	0.8454	0.8531	0.20	2	10	exonic	exonic	exonic	OTOGL	OTOGL	ENSG00000165899	nonsynonymous SNV	nonsynonymous SNV	unknown	OTOGL:NM_173591:exon45:c.A5518G:p.I1840V,	OTOGL:uc001szd.3:exon45:c.A5518G:p.I1840V,	UNKNOWN	Het;A>G	920;55|42	Hom;A>G	2936;0|104
N	N	-	12	80749392	80749392	A	T	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs6539501	0.832069	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;A>T	132;1|5	Hom;A>T	179;0|6
N	N	-	12	80750741	80750741	G	GA	indel	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs398040021	0.68111	0.7136	0.7527	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;+A	1100;24|47	Hom;+A	1841;0|64
N	N	-	12	80761430	80761430	G	A	snp	nonsynonymous SNV	G6394A	A2132T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs1551118	0.678115	0.7180	0.7868	0.08	1	13	exonic	exonic	exonic	OTOGL	OTOGL	ENSG00000165899	nonsynonymous SNV	nonsynonymous SNV	unknown	OTOGL:NM_173591:exon53:c.G6394A:p.A2132T,	OTOGL:uc001szd.3:exon53:c.G6394A:p.A2132T,OTOGL:uc009zsg.2:exon8:c.G34A:p.A12T,OTOGL:uc021rba.1:exon7:c.G451A:p.A151T,	UNKNOWN	Het;G>A	1118;57|54	Hom;G>A	4100;1|158
N	N	-	12	80762246	80762246	G	A	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs10778730	0.679712	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;G>A	89;6|4	Hom;G>A	442;0|13
N	N	-	12	80764204	80764206	CTT	C	indel	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs34672210	0.686302	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;-TT	77;4|3	Hom;-TT	278;0|7
N	N	-	12	80765683	80765684	TG	T	indel	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs779681456	0	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;-G	413;4|11	Hom;-G	401;0|9
N	N	-	12	80765685	80765687	AAG	A	indel	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs201680829	0	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;-AG	410;5|11	Hom;-AG	401;0|10
N	N	-	12	80765800	80765800	A	G	snp	nonsynonymous SNV	A6710G	N2237S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs1551122	0.484026	0.4965	0.5893	0.62	8	13	exonic	exonic	exonic	OTOGL	OTOGL	ENSG00000165899	nonsynonymous SNV	nonsynonymous SNV	unknown	OTOGL:NM_173591:exon56:c.A6710G:p.N2237S,	OTOGL:uc001szd.3:exon56:c.A6710G:p.N2237S,OTOGL:uc009zsg.2:exon11:c.A350G:p.N117S,OTOGL:uc021rba.1:exon10:c.A767G:p.N256S,	UNKNOWN	Het;A>G	1747;96|81	Hom;A>G	4021;0|147
N	N	-	12	80765933	80765933	C	G	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs10862100	0.492612	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;C>G	1148;30|32	Hom;C>G	2437;0|60
N	N	-	12	80765945	80765945	G	A	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs10778734	0.679313	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;G>A	1022;25|26	Hom;G>A	2086;0|47
N	N	-	12	80770764	80770764	A	G	snp	intronic	 	 	 	 	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs10862101	0.676717	0	0	1	0	0	intronic	intronic	intronic	OTOGL	OTOGL	ENSG00000165899	Na	Na	Na	Na	Na	Na	Het;A>G	71;3|3	Hom;A>G	233;0|7
N	N	-	12	80771813	80771813	G	A	snp	synonymous SNV	G7020A	T2340T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs2717477	0.683107	0.7227	0.7874	1	0	0	exonic	exonic	exonic	OTOGL	OTOGL	ENSG00000165899	synonymous SNV	synonymous SNV	unknown	OTOGL:NM_173591:exon58:c.G7020A:p.T2340T,	OTOGL:uc001szd.3:exon58:c.G7020A:p.T2340T,OTOGL:uc009zsg.2:exon13:c.G660A:p.T220T,OTOGL:uc021rba.1:exon12:c.G1077A:p.T359T,	UNKNOWN	Het;G>A	854;26|38	Hom;G>A	1907;0|72
N	N	-	12	82748	82748	G	T	snp	ncRNA_intronic	 	 	 	 	LOC100288778																		rs374620640	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100288778	DKFZp434K1323,LOC100288778	ENSG00000226210	Na	Na	Na	Na	Na	Na	Het;G>T	176;2|5	Hom;G>T	107;0|3
N	N	-	12	82751	82751	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100288778																		rs377726320	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100288778	DKFZp434K1323,LOC100288778	ENSG00000226210	Na	Na	Na	Na	Na	Na	Het;C>T	176;2|5	Hom;C>T	107;0|3
N	N	-	12	82755	82755	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100288778																		rs371129203	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100288778	DKFZp434K1323,LOC100288778	ENSG00000226210	Na	Na	Na	Na	Na	Na	Het;C>T	176;2|5	Hom;C>T	107;0|3
N	N	-	12	82811	82811	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100288778																		rs373297195	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100288778	DKFZp434K1323,LOC100288778	ENSG00000226210	Na	Na	Na	Na	Na	Na	Het;G>A	132;2|7	Hom;G>A	96;1|6
N	N	-	12	83358930	83358930	A	G	snp	intronic	 	 	 	 	TMTC2	Tmtc2	ENSG00000179104	transmembrane and tetratricopeptide repeat containing 2	chr12:83080659-83528649	The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]	Tobacco Use Disorder; Inflammatory Bowel Diseases; Prostatic Neoplasms; Body Mass Index; Hip; Glaucoma, Open-Angle	 		GO:0055074;calcium ion homeostasis;IMP	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMTC2			https://www.ncbi.nlm.nih.gov/omim/?term=615856	http://www.informatics.jax.org/searchtool/Search.do?query=TMTC2&submit=Quick%0D%14292ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC2	rs2403023	0.651957	0.5797	0.7064	1	0	0	intronic	intronic	intronic	TMTC2	TMTC2	ENSG00000179104	Na	Na	Na	Na	Na	Na	Het;A>G	964;32|43	Hom;A>G	1407;0|49
N	N	-	12	8381841	8381841	T	C	snp	ncRNA_intronic	 	 	 	 	ALG1L10P																		rs28549167	0.563898	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FAM90A1(dist=1627),FAM86FP(dist=1804)	FAM90A1(dist=1627),FAM86FP(dist=1804)	ENSG00000254016	Na	Na	Na	Na	Na	Na	Het;T>C	67;4|3	Hom;T>C	132;0|4
N	N	-	12	8386700	8386700	G	GC	indel	ncRNA_intronic	 	 	 	 	FAM86FP																		rs139204651	0.406749	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FAM86FP	FAM86FP	ENSG00000164845	Na	Na	Na	Na	Na	Na	Het;+C	498;4|19	Hom;+C	513;0|12
N	N	-	12	8388656	8388656	G	A	snp	ncRNA_intronic	 	 	 	 	FAM86FP																		rs2953202	0.809904	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FAM86FP,LOC101927905	FAM86FP	ENSG00000164845,ENSG00000215241	Na	Na	Na	Na	Na	Na	Het;G>A	1659;52|74	Hom;G>A	2059;0|79
N	N	-	12	8389625	8389625	C	G	snp	ncRNA_exonic	 	 	 	 	FAM86FP																		rs2965691	0.503994	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	FAM86FP,LOC101927905	FAM86FP	ENSG00000164845	Na	Na	Na	Na	Na	Na	Het;C>G	2836;268|148	Hom;C>G	9081;2|344
N	N	-	12	84125433	84125433	C	T	snp	intergenic	 	 	 	 	AC093025.1																		rs7970159	0.267173	0	0	1	0	0	intergenic	intergenic	intergenic	TMTC2(dist=597366),SLC6A15(dist=1127834)	TMTC2(dist=597366),SLC6A15(dist=1127834)	ENSG00000257124(dist=69935),ENSG00000221148(dist=451670)	Na	Na	Na	Na	Na	Na	Het;C>T	100;10|6	Hom;C>T	735;0|28
N	N	-	12	85423743	85423743	T	C	snp	UTR5	-19A>G	 	 	 	TSPAN19	 	ENSG00000231738	tetraspanin 19	chr12:85408094-85430055			 		GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TSPAN19				http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN19&submit=Quick%0D%19069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN19	rs7962577	0.578275	0.6251	0.5369	1	0	0	UTR5	UTR5	UTR5	TSPAN19(NM_001100917:c.-19A>G)	TSPAN19(uc009zsj.3:c.-19A>G)	ENSG00000231738(ENST00000532498:c.-19A>G,ENST00000433494:c.-19A>G,ENST00000552392:c.-19A>G,ENST00000547836:c.-19A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	283;9|14	Hom;T>C	578;0|17
N	N	-	12	85438499	85438499	G	A	snp	nonsynonymous SNV	G248A	C83Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs3765044	0.206669	0.2052	0.2606	0.08	1	13	exonic	exonic	exonic	LRRIQ1	LRRIQ1	ENSG00000133640	nonsynonymous SNV	nonsynonymous SNV	unknown	LRRIQ1:NM_001079910:exon4:c.G248A:p.C83Y,	LRRIQ1:uc001taa.1:exon4:c.G248A:p.C83Y,LRRIQ1:uc001tac.3:exon4:c.G248A:p.C83Y,	UNKNOWN	Het;G>A	516;29|25	Hom;G>A	1357;2|52
N	N	-	12	85439774	85439774	A	G	snp	intronic	 	 	 	 	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs2305102	0.206869	0.2085	0.2694	1	0	0	intronic	intronic	intronic	LRRIQ1	LRRIQ1	ENSG00000133640	Na	Na	Na	Na	Na	Na	Het;A>G	294;27|15	Hom;A>G	1282;0|48
N	N	-	12	85449465	85449465	T	A	snp	synonymous SNV	T819A	V273V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs7974418	0.595248	0.6296	0.5094	1	0	0	exonic	exonic	exonic	LRRIQ1	LRRIQ1	ENSG00000133640	synonymous SNV	synonymous SNV	unknown	LRRIQ1:NM_001079910:exon8:c.T894A:p.V298V,	LRRIQ1:uc001taa.1:exon7:c.T819A:p.V273V,LRRIQ1:uc021rbo.1:exon4:c.T528A:p.V176V,LRRIQ1:uc001tac.3:exon8:c.T894A:p.V298V,	UNKNOWN	Het;T>A	834;22|39	Hom;T>A	1143;0|43
N	N	-	12	85451017	85451017	G	C	snp	intronic	 	 	 	 	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs6539881	0.595048	0	0	1	0	0	intronic	intronic	intronic	LRRIQ1	LRRIQ1	ENSG00000133640	Na	Na	Na	Na	Na	Na	Het;G>C	335;15|15	Hom;G>C	1428;0|46
N	N	-	12	85466723	85466723	G	A	snp	nonsynonymous SNV	G2734A	A912T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs17012533	0.206869	0.2089	0.2607	0.08	1	13	exonic	exonic	exonic	LRRIQ1	LRRIQ1	ENSG00000133640	nonsynonymous SNV	nonsynonymous SNV	unknown	LRRIQ1:NM_001079910:exon11:c.G2734A:p.A912T,	LRRIQ1:uc021rbo.1:exon7:c.G2368A:p.A790T,LRRIQ1:uc001tac.3:exon11:c.G2734A:p.A912T,	UNKNOWN	Het;G>A	1077;54|52	Hom;G>A	2054;0|79
N	N	-	12	85492094	85492094	C	T	snp	intronic	 	 	 	 	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs34798402	0.206869	0.2049	0.2778	1	0	0	intronic	intronic	intronic	LRRIQ1	LRRIQ1	ENSG00000133640	Na	Na	Na	Na	Na	Na	Het;C>T	369;10|15	Hom;C>T	478;0|16
N	N	-	12	85531790	85531790	A	G	snp	intronic	 	 	 	 	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs168615	0.597444	0.6265	0.5179	1	0	0	intronic	intronic	intronic	LRRIQ1	LRRIQ1	ENSG00000133640	Na	Na	Na	Na	Na	Na	Het;A>G	509;29|25	Hom;A>G	1518;0|55
N	N	-	12	85554331	85554331	C	T	snp	intronic	 	 	 	 	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs2404773	0.20647	0	0	1	0	0	intronic	intronic	intronic	LRRIQ1	LRRIQ1	ENSG00000133640	Na	Na	Na	Na	Na	Na	Het;C>T	206;16|12	Hom;C>T	807;2|31
N	N	-	12	85638645	85638646	GA	G	indel	frameshift substitution	5095_5096G	 	 	 	LRRIQ1	Lrriq1	ENSG00000133640	leucine rich repeats and IQ motif containing 1	chr12:85430092-85657002		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1	https://www.uniprot.org/uniprot/Q96JM4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1	rs398102301	0.197883	0.2576	0.2853	1	0	0	exonic	exonic	exonic	LRRIQ1	LRRIQ1	ENSG00000133640	frameshift substitution	frameshift substitution	unknown	LRRIQ1:NM_001079910:exon27:c.5095_5096G,	LRRIQ1:uc001tac.3:exon27:c.5095_5096G,	UNKNOWN	Het;-A	387;44|26	Hom;-A	2181;5|96
N	N	-	12	86633184	86633184	A	G	snp	intronic	 	 	 	 	MGAT4C	Mgat4c	ENSG00000283530	MGAT4 family member C	chr12:86372516-87232681		Heart Rate; Blood Cells; Diabetes Mellitus; Apolipoproteins B; Cholesterol; Tobacco Use Disorder; Body Height; Celiac Disease|	 	N-Glycan antennae elongation	GO:0005975;carbohydrate metabolic process;IEA|GO:0006486;protein glycosylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008454;alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAT4C			https://www.ncbi.nlm.nih.gov/omim/?term=607385	http://www.informatics.jax.org/searchtool/Search.do?query=MGAT4C&submit=Quick%0D%22750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAT4C	rs2452802	0.861422	0	0	1	0	0	intronic	intronic	intronic	MGAT4C	MGAT4C	ENSG00000182050	Na	Na	Na	Na	Na	Na	Het;A>G	197;2|10	Hom;A>G	444;0|17
N	N	-	12	87282814	87282814	T	C	snp	intergenic	 	 	 	 	AC010196.1																		rs12822592	0.289337	0	0	1	0	0	intergenic	intergenic	intergenic	MGAT4C(dist=50133),MKRN9P(dist=893849)	MGAT4C(dist=50133),MKRN9P(dist=893849)	ENSG00000258185(dist=50039),ENSG00000242850(dist=280948)	Na	Na	Na	Na	Na	Na	Het;T>C	513;43|26	Hom;T>C	1598;0|58
N	N	-	12	87282859	87282859	A	C	snp	intergenic	 	 	 	 	AC010196.1																		rs34646230	0.314896	0	0	1	0	0	intergenic	intergenic	intergenic	MGAT4C(dist=50178),MKRN9P(dist=893804)	MGAT4C(dist=50178),MKRN9P(dist=893804)	ENSG00000258185(dist=50084),ENSG00000242850(dist=280903)	Na	Na	Na	Na	Na	Na	Het;A>C	1032;65|55	Hom;A>C	2895;1|107
N	N	-	12	87283023	87283023	T	A	snp	intergenic	 	 	 	 	AC010196.1																		rs1586597	0.566494	0	0	1	0	0	intergenic	intergenic	intergenic	MGAT4C(dist=50342),MKRN9P(dist=893640)	MGAT4C(dist=50342),MKRN9P(dist=893640)	ENSG00000258185(dist=50248),ENSG00000242850(dist=280739)	Na	Na	Na	Na	Na	Na	Het;T>A	89;7|5	Hom;T>A	532;0|16
N	N	-	12	8759445	8759445	C	T	snp	intronic	 	 	 	 	AICDA	Aicda	ENSG00000111732	activation induced cytidine deaminase	chr12:8754762-8765467	This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Tobacco Use Disorder; benzene haematotoxicity; asthma; atopy; Immunologic Deficiency Syndromes|Severe Combined Immunodeficiency; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Asthma. total serum IgE	Homozygous mutation of this gene results in elevated IgM levels and impairment of B cell class switching.		GO:0006397;mRNA processing;IEA|GO:0009972;cytidine deamination;IEA|GO:0016445;somatic diversification of immunoglobulins;IDA|GO:0016446;somatic hypermutation of immunoglobulin genes;IMP|GO:0030183;B cell differentiation;NAS|GO:0042742;defense response to bacterium;IEA|GO:0045190;isotype switching;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0080111;DNA demethylation;IDA|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IDA	GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0003824;catalytic activity;IEA|GO:0004126;cytidine deaminase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AICDA	https://www.uniprot.org/uniprot/Q9GZX7	https://hpo.jax.org/app/browse/search?q=AICDA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605257	http://www.informatics.jax.org/searchtool/Search.do?query=AICDA&submit=Quick%0D%4127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AICDA	rs2518144	0.632588	0.5401	0.5323	1	0	0	intronic	intronic	intronic	AICDA	AICDA	ENSG00000111732	Na	Na	Na	Na	Na	Na	Het;C>T	1184;34|48	Hom;C>T	2930;0|105
N	N	-	12	8995694	8995694	A	G	snp	intronic	 	 	 	 	A2ML1	 	ENSG00000166535	alpha-2-macroglobulin like 1	chr12:8975068-9039597	This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Alzheimer's disease	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0052548;regulation of endopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/A2ML1		https://hpo.jax.org/app/browse/search?q=A2ML1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610627	http://www.informatics.jax.org/searchtool/Search.do?query=A2ML1&submit=Quick%0D%11820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=A2ML1	rs7307991	0.163139	0.2866	0.2712	1	0	0	intronic	intronic	intronic	A2ML1	A2ML1	ENSG00000166535	Na	Na	Na	Na	Na	Na	Het;A>G	337;18|15	Hom;A>G	706;0|25
N	N	-	12	8995966	8995966	G	A	snp	intronic	 	 	 	 	A2ML1	 	ENSG00000166535	alpha-2-macroglobulin like 1	chr12:8975068-9039597	This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Alzheimer's disease	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0052548;regulation of endopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/A2ML1		https://hpo.jax.org/app/browse/search?q=A2ML1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610627	http://www.informatics.jax.org/searchtool/Search.do?query=A2ML1&submit=Quick%0D%11820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=A2ML1	rs7136813	0.247404	0.3445	0.3016	1	0	0	intronic	intronic	intronic	A2ML1	A2ML1	ENSG00000166535	Na	Na	Na	Na	Na	Na	Het;G>A	743;43|35	Hom;G>A	1652;0|60
N	N	-	12	90015579	90015579	C	CA	indel	intronic	 	 	 	 	ATP2B1	Atp2b1	ENSG00000070961	ATPase plasma membrane Ca2+ transporting 1	chr12:89981828-90103077	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Hypertension; Blood Pressure; Diastolic blood pressure; Type 2 Diabetes| edema | rosiglitazone; systolic blood pressure; Biomedical quantitative traits; normal variation; hypertension	Homozygous null mice display embryonic lethality.	Ion transport by P-type ATPases	GO:0003407;neural retina development;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0007420;brain development;IEA|GO:0007568;aging;IEA|GO:0009409;response to cold;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071305;cellular response to vitamin D;IEA|GO:0071386;cellular response to corticosterone stimulus;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901660;calcium ion export;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1990034;calcium ion export from cell;IDA	GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0032590;dendrite membrane;IEA|GO:0032591;dendritic spine membrane;IEA|GO:0032809;neuronal cell body membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0045121;membrane raft;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0015085;calcium ion transmembrane transporter activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0030165;PDZ domain binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2B1	https://www.uniprot.org/uniprot/P20020		https://www.ncbi.nlm.nih.gov/omim/?term=108731	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B1&submit=Quick%0D%1383ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B1	rs35089871	0.589457	0.5806	0.5706	1	0	0	intronic	intronic	intronic	ATP2B1	ATP2B1	ENSG00000070961	Na	Na	Na	Na	Na	Na	Het;+A	751;22|44	Hom;+A	449;3|22
N	N	-	12	90593417	90593417	T	C	snp	intergenic	 	 	 	 	AC126178.1																		rs4842510	0.659145	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00936(dist=487688),LINC00615(dist=718383)	LINC00936(dist=487688),LINC00615(dist=718383)	ENSG00000257194(dist=86861),ENSG00000258183(dist=81254)	Na	Na	Na	Na	Na	Na	Het;T>C	81;5|5	Hom;T>C	219;0|10
N	N	-	12	90593548	90593548	T	C	snp	intergenic	 	 	 	 	AC126178.1																		rs2731283	0.680312	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00936(dist=487819),LINC00615(dist=718252)	LINC00936(dist=487819),LINC00615(dist=718252)	ENSG00000257194(dist=86992),ENSG00000258183(dist=81123)	Na	Na	Na	Na	Na	Na	Het;T>C	295;12|15	Hom;T>C	397;0|15
N	N	-	12	90687102	90687102	G	A	snp	ncRNA_exonic	 	 	 	 	LINC02392																		rs2579101	0.765775	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00936(dist=581373),LINC00615(dist=624698)	LINC00936(dist=581373),LINC00615(dist=624698)	ENSG00000258183	Na	Na	Na	Na	Na	Na	Het;G>A	656;21|28	Hom;G>A	754;0|28
N	N	-	12	90687355	90687355	C	T	snp	ncRNA_intronic	 	 	 	 	LINC02392																		rs2579099	0.766174	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00936(dist=581626),LINC00615(dist=624445)	LINC00936(dist=581626),LINC00615(dist=624445)	ENSG00000258183	Na	Na	Na	Na	Na	Na	Het;C>T	386;16|17	Hom;C>T	1343;0|51
N	N	-	12	91676566	91676566	G	A	snp	intergenic	 	 	 	 	AC007115.1																		rs113786032	0.0828674	0	0	1	0	0	intergenic	intergenic	intergenic	DCN(dist=99760),C12orf79(dist=702186)	DCN(dist=99760),LOC256021(dist=702186)	ENSG00000258148(dist=88847),ENSG00000258100(dist=79407)	Na	Na	Na	Na	Na	Na	Het;G>A	351;9|17	Hom;G>A	715;0|25
N	N	-	12	92924525	92924525	G	A	snp	ncRNA_exonic	 	 	 	 	AC063949.1																		rs1515559	0.780351	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CLLU1(dist=99795),C12orf74(dist=172094)	NONE(dist=NONE),C12orf74(dist=172094)	ENSG00000258262	Na	Na	Na	Na	Na	Na	Het;G>A	84;6|6	Hom;G>A	173;0|7
N	N	-	12	93721801	93721801	A	G	snp	splicing	277+2T>C	 	 	 	LOC643339																		rs7976742	0.336462	0	0.3733	1	0	0	ncRNA_splicing	splicing	ncRNA_exonic;splicing	LOC643339(NR_040096:exon3:c.329+2T>C)	LOC643339(uc021rbu.1:exon3:c.277+2T>C)	ENSG00000257252;ENSG00000257252(ENST00000552835:exon4:c.407+2T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1197;55|56	Hom;A>G	2696;0|99
N	N	-	12	93788281	93788281	T	G	snp	ncRNA_intronic	 	 	 	 	NUDT4P1		ENSG00000177144	nudix hydrolase 4 pseudogene 1	chr1:145139025-145139569						GO:0005829;cytosol;IDA	GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT4P1				http://www.informatics.jax.org/searchtool/Search.do?query=NUDT4P1&submit=Quick%0D%13976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT4P1	rs2054301	0.357827	0	0	1	0	0	ncRNA_intronic	intronic	intronic	NUDT4P1,NUDT4P2	NUDT4	ENSG00000173598	Na	Na	Na	Na	Na	Na	Het;T>G	287;7|8	Hom;T>G	512;0|12
N	N	-	12	93788282	93788282	T	A	snp	ncRNA_intronic	 	 	 	 	NUDT4P1		ENSG00000177144	nudix hydrolase 4 pseudogene 1	chr1:145139025-145139569						GO:0005829;cytosol;IDA	GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT4P1				http://www.informatics.jax.org/searchtool/Search.do?query=NUDT4P1&submit=Quick%0D%13976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT4P1	rs2054302	0.357428	0	0	1	0	0	ncRNA_intronic	intronic	intronic	NUDT4P1,NUDT4P2	NUDT4	ENSG00000173598	Na	Na	Na	Na	Na	Na	Het;T>A	287;7|8	Hom;T>A	512;0|12
N	N	-	12	93861253	93861253	T	C	snp	upstream	 	 	 	 	MRPL42	Mrpl42	ENSG00000198015	mitochondrial ribosomal protein L42	chr12:93861264-93897545	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]	Acquired Immunodeficiency Syndrome|Disease Progression; height; Height	 	Mitochondrial translation termination	GO:0006412;translation;NAS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005763;mitochondrial small ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MRPL42			https://www.ncbi.nlm.nih.gov/omim/?term=611847	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL42&submit=Quick%0D%16785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL42	rs2290879	0.483826	0	0	1	0	0	upstream	upstream	upstream	MRPL42	MRPL42	ENSG00000198015	Na	Na	Na	Na	Na	Na	Het;T>C	878;40|41	Hom;T>C	2469;0|96
N	N	-	12	93863162	93863162	C	G	snp	intronic	 	 	 	 	MRPL42	Mrpl42	ENSG00000198015	mitochondrial ribosomal protein L42	chr12:93861264-93897545	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]	Acquired Immunodeficiency Syndrome|Disease Progression; height; Height	 	Mitochondrial translation termination	GO:0006412;translation;NAS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005763;mitochondrial small ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MRPL42			https://www.ncbi.nlm.nih.gov/omim/?term=611847	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL42&submit=Quick%0D%16785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL42	rs4761721	0.484425	0.5256	0.5435	1	0	0	intronic	intronic	intronic	MRPL42	MRPL42	ENSG00000198015	Na	Na	Na	Na	Na	Na	Het;C>G	796;33|34	Hom;C>G	2122;0|62
N	N	-	12	94673509	94673510	GC	G	indel	intronic	 	 	 	 	PLXNC1	Plxnc1	ENSG00000136040	plexin C1	chr12:94542499-94701451	This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]	Parkinson's disease ; Erythrocyte Indices; Parkinson Disease; Iron	Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration.	Other semaphorin interactions	GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IBA|GO:0043087;regulation of GTPase activity;IBA|GO:0050772;positive regulation of axonogenesis;IBA|GO:0071526;semaphorin-plexin signaling pathway;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNC1	https://www.uniprot.org/uniprot/O60486		https://www.ncbi.nlm.nih.gov/omim/?term=604259	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNC1&submit=Quick%0D%7273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNC1	rs10713724	0.661342	0	0.7248	1	0	0	intronic	intronic	intronic	PLXNC1	PLXNC1	ENSG00000136040,ENSG00000258365	Na	Na	Na	Na	Na	Na	Het;-C	509;13|19	Hom;-C	951;0|30
N	N	-	12	9548694	9548694	C	CTG	indel	ncRNA_exonic	 	 	 	 	LOC101930452																		rs57285363	0.489417	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101930452	DQ592342(dist=48666),DQ599803(dist=6344)	ENSG00000260423	Na	Na	Na	Na	Na	Na	Het;+TG	4373;20|142	Hom;+TG	3438;5|102
N	N	-	12	96104138	96104138	T	C	snp	intronic	 	 	 	 	NTN4	Ntn4	ENSG00000074527	netrin 4	chr12:96051583-96184930	This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Cardiovascular Diseases; Metabolism; Brain; Body Weights and Measures	Mice homozygous for a knock-out allele exhibit increased cell proliferation in the cornea without an increase in corneal thickness and increased microvessel branching in the middle levels of the retina.	Netrin-1 signaling	GO:0007411;axon guidance;TAS|GO:0016322;neuron remodeling;IEA|GO:0060668;regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI|GO:0043237;laminin-1 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NTN4	https://www.uniprot.org/uniprot/Q9HB63		https://www.ncbi.nlm.nih.gov/omim/?term=610401	http://www.informatics.jax.org/searchtool/Search.do?query=NTN4&submit=Quick%0D%1504ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTN4	rs2254316	0.817692	0	0	1	0	0	intronic	intronic	intronic	NTN4	NTN4	ENSG00000074527	Na	Na	Na	Na	Na	Na	Het;T>C	256;10|9	Hom;T>C	485;0|14
N	N	-	12	96106943	96106943	T	C	snp	intronic	 	 	 	 	NTN4	Ntn4	ENSG00000074527	netrin 4	chr12:96051583-96184930	This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Cardiovascular Diseases; Metabolism; Brain; Body Weights and Measures	Mice homozygous for a knock-out allele exhibit increased cell proliferation in the cornea without an increase in corneal thickness and increased microvessel branching in the middle levels of the retina.	Netrin-1 signaling	GO:0007411;axon guidance;TAS|GO:0016322;neuron remodeling;IEA|GO:0060668;regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI|GO:0043237;laminin-1 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NTN4	https://www.uniprot.org/uniprot/Q9HB63		https://www.ncbi.nlm.nih.gov/omim/?term=610401	http://www.informatics.jax.org/searchtool/Search.do?query=NTN4&submit=Quick%0D%1504ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTN4	rs4129599	0.384984	0.3269	0.2569	1	0	0	intronic	intronic	intronic	NTN4	NTN4	ENSG00000074527	Na	Na	Na	Na	Na	Na	Het;T>C	547;43|27	Hom;T>C	1506;0|51
N	N	-	12	96387621	96387621	A	G	snp	intronic	 	 	 	 	HAL	Hal	ENSG00000084110	histidine ammonia-lyase	chr12:96366440-96390143	Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	schizophrenia; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Radiation-Induced|Skin Neoplasms|Sunburn	Mutations in this gene cause elevated histidine levels.	Histidine catabolism	GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003824;catalytic activity;IEA|GO:0004397;histidine ammonia-lyase activity;EXP|GO:0016829;lyase activity;IEA|GO:0016841;ammonia-lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAL	https://www.uniprot.org/uniprot/P42357	https://hpo.jax.org/app/browse/search?q=HAL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609457	http://www.informatics.jax.org/searchtool/Search.do?query=HAL&submit=Quick%0D%1855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAL	rs2302629	0.579673	0.6413	0.5648	1	0	0	intronic	intronic	intronic	HAL	HAL	ENSG00000084110	Na	Na	Na	Na	Na	Na	Het;A>G	724;19|30	Hom;A>G	898;0|30
N	N	-	12	96983449	96983452	AATC	A	indel	intronic	 	 	 	 	CFAP54	Cfap54																	rs66781891	0.724241	0	0	1	0	0	intergenic	intronic	intronic	CDK17(dist=189083),NEDD1(dist=317549)	AX747187	ENSG00000188596	Na	Na	Na	Na	Na	Na	Het;-ATC	476;11|13	Hom;-ATC	1032;0|24
N	N	-	12	97078749	97078749	A	G	snp	intronic	 	 	 	 	CFAP54	Cfap54																	rs7306382	0.239217	0	0	1	0	0	intergenic	intronic	intronic	CDK17(dist=284383),NEDD1(dist=222252)	C12orf63	ENSG00000188596	Na	Na	Na	Na	Na	Na	Het;A>G	226;14|10	Hom;A>G	392;0|12
N	N	-	12	97079040	97079040	C	T	snp	intronic	 	 	 	 	CFAP54	Cfap54																	rs79677423	0.28115	0.1229	0.2545	1	0	0	intergenic	intronic	intronic	CDK17(dist=284674),NEDD1(dist=221961)	C12orf63	ENSG00000188596	Na	Na	Na	Na	Na	Na	Het;C>T	654;39|20	Hom;C>T	1425;2|57
N	N	-	12	97079041	97079041	C	G	snp	intronic	 	 	 	 	CFAP54	Cfap54																	rs7974435	0.688698	0.6578	0.6584	1	0	0	intergenic	intronic	intronic	CDK17(dist=284675),NEDD1(dist=221960)	C12orf63	ENSG00000188596	Na	Na	Na	Na	Na	Na	Het;C>G	654;39|18	Hom;C>G	2505;0|53
N	N	-	12	97133737	97133737	T	G	snp	synonymous SNV	T2244G	A748A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C12orf63																		rs17326839	0.230032	0.2345	0.2402	1	0	0	intergenic	exonic	exonic	CDK17(dist=339371),NEDD1(dist=167264)	C12orf63	ENSG00000188596	Na	synonymous SNV	unknown	Na	C12orf63:uc021rcc.1:exon18:c.T2244G:p.A748A,	UNKNOWN	Het;T>G	824;38|40	Hom;T>G	2537;0|93
N	N	-	12	9720402	9720402	T	TC	indel	ncRNA_exonic	 	 	 	 	AC092821.1																		rs200695051	0.875998	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	DDX12P(dist=119634),KLRB1(dist=27468)	BX647938	ENSG00000214776	Na	Na	Na	Na	Na	Na	Het;+C	70;1|4	Hom;+C	230;0|9
N	N	-	12	97858656	97858656	G	A	snp	upstream	 	 	 	 	RMST																		rs11109043	0.166933	0	0	1	0	0	upstream	upstream	ncRNA_intronic	RMST	RMST	ENSG00000255794	Na	Na	Na	Na	Na	Na	Het;G>A	189;2|7	Hom;G>A	290;0|10
N	N	-	12	98127149	98127149	A	C	snp	ncRNA_exonic	 	 	 	 	LOC643711																		rs7297832	0.592053	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC643711	LOC643711	ENSG00000257501	Na	Na	Na	Na	Na	Na	Het;A>C	1639;67|75	Hom;A>C	3289;2|120
N	N	-	12	98134260	98134260	A	G	snp	ncRNA_exonic	 	 	 	 	LOC643711																		rs1420393	0.589856	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC643711	LOC643711	ENSG00000257501	Na	Na	Na	Na	Na	Na	Het;A>G	1031;84|54	Hom;A>G	3618;0|131
N	N	-	12	98332704	98332704	C	G	snp	downstream	 	 	 	 	MIR4495																		rs1349299	0.899161	0	0	1	0	0	downstream	intergenic	downstream	MIR4495	LOC643711(dist=182409),MIR4303(dist=56457)	ENSG00000265861	Na	Na	Na	Na	Na	Na	Het;C>G	105;9|6	Hom;C>G	360;0|12
N	N	-	12	98332904	98332906	TCA	T	indel	upstream	 	 	 	 	MIR4495																		rs3072891	0.899161	0	0.6667	1	0	0	upstream	intergenic	upstream	MIR4495	LOC643711(dist=182609),MIR4303(dist=56255)	ENSG00000265861	Na	Na	Na	Na	Na	Na	Het;-CA	38;3|2	Hom;-CA	728;0|17
N	N	-	12	98689287	98689287	A	T	snp	intergenic	 	 	 	 	AC016152.1																		rs1160773	0.902157	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4303(dist=300061),SLC9A7P1(dist=158332)	MIR4303(dist=300061),Mir_548(dist=62793)	ENSG00000258312(dist=3064),ENSG00000257580(dist=22232)	Na	Na	Na	Na	Na	Na	Het;A>T	194;12|9	Hom;A>T	846;0|33
N	N	-	12	98879500	98879500	C	G	snp	ncRNA_exonic	 	 	 	 	LOC643770																		rs829884	0.825879	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LOC643770	LOC643770(uc001tff.2:c.*1381G>C)	ENSG00000245017(ENST00000501499:c.*1381G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	882;47|38	Hom;C>G	2116;1|77
N	N	-	12	98879606	98879606	G	A	snp	ncRNA_exonic	 	 	 	 	LOC643770																		rs829883	0.825879	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LOC643770	LOC643770(uc001tff.2:c.*1275C>T)	ENSG00000245017(ENST00000501499:c.*1275C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	789;55|41	Hom;G>A	2248;0|84
N	N	-	12	98880099	98880099	A	G	snp	ncRNA_exonic	 	 	 	 	LOC643770																		rs829882	0.708267	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LOC643770	LOC643770(uc001tff.2:c.*782T>C)	ENSG00000245017(ENST00000501499:c.*782T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1891;97|87	Hom;A>G	4395;0|156
N	N	-	13	101020695	101020695	A	G	snp	intronic	 	 	 	 	PCCA	Pcca	ENSG00000175198	propionyl-CoA carboxylase alpha subunit	chr13:100741269-101182686	The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Count; Hemoglobins; Coronary Artery Disease; Acquired Immunodeficiency Syndrome|Disease Progression; Stroke	Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts.	Propionyl-CoA catabolism	GO:0006768;biotin metabolic process;TAS|GO:0019626;short-chain fatty acid catabolic process;TAS	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0004658;propionyl-CoA carboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;TAS|GO:0016874;ligase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCCA		https://hpo.jax.org/app/browse/search?q=PCCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=232000	http://www.informatics.jax.org/searchtool/Search.do?query=PCCA&submit=Quick%0D%13655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCCA	rs9518061	0.552716	0.6823	0.6966	1	0	0	intronic	intronic	intronic	PCCA	PCCA	ENSG00000175198	Na	Na	Na	Na	Na	Na	Het;A>G	521;23|25	Hom;A>G	1667;0|53
N	N	-	13	101264633	101264633	C	T	snp	intronic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1572641	0.520567	0.4484	0.4979	1	0	0	intronic	intronic	intronic	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;C>T	480;14|24	Hom;C>T	1137;2|43
N	N	-	13	101287340	101287340	C	T	snp	nonsynonymous SNV	G1255A	V419I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs946837	0.389377	0.3180	0.3469	0.08	1	13	exonic	exonic	exonic	TMTC4	TMTC4	ENSG00000125247	nonsynonymous SNV	nonsynonymous SNV	unknown	TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I,TMTC4:NM_001286453:exon8:c.G922A:p.V308I,	TMTC4:uc010tja.2:exon8:c.G922A:p.V308I,TMTC4:uc001vou.3:exon10:c.G1255A:p.V419I,TMTC4:uc001vow.1:exon5:c.G604A:p.V202I,TMTC4:uc001vot.3:exon11:c.G1312A:p.V438I,TMTC4:uc001vov.1:exon3:c.G490A:p.V164I,	UNKNOWN	Het;C>T	1420;80|71	Hom;C>T	3701;1|141
N	N	-	13	101288992	101288992	C	T	snp	intronic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs3803256	0.466254	0.4172	0.4604	1	0	0	intronic	intronic	intronic	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;C>T	1138;47|56	Hom;C>T	1888;0|72
N	N	-	13	101289998	101289998	C	A	snp	UTR5	-30G>T	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs7985718	0.685703	0.5883	0.6709	1	0	0	intronic	UTR5	intronic	TMTC4	TMTC4(uc001vov.1:c.-30G>T)	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;C>A	1258;30|56	Hom;C>A	1608;0|55
N	N	-	13	101294428	101294428	C	G	snp	intronic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs9585476	0.391973	0.3048	0.3503	1	0	0	intronic	intronic	intronic	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;C>G	405;16|20	Hom;C>G	1085;0|38
N	N	-	13	101315175	101315175	G	A	snp	intronic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1283210	0.7502	0.7012	0.7780	1	0	0	intronic	intronic	intronic	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;G>A	633;35|30	Hom;G>A	1388;0|51
N	N	-	13	101316313	101316313	C	T	snp	intronic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1298168	0.737819	0	0	1	0	0	intronic	intronic	intronic	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;C>T	64;1|3	Hom;C>T	144;0|5
N	N	-	13	101316378	101316378	A	G	snp	intronic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1283208	0.409345	0	0	1	0	0	intronic	intronic	intronic	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;A>G	92;9|4	Hom;A>G	697;0|25
N	N	-	13	101321067	101321067	T	C	snp	intronic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs2791680	0.748602	0.7022	0.7790	1	0	0	intronic	intronic	intronic	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;T>C	609;18|28	Hom;T>C	1425;0|50
N	N	-	13	101322622	101322622	G	C	snp	UTR5	-6C>G	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1283201	0.410543	0.3401	0.3756	1	0	0	UTR5	UTR5	UTR5	TMTC4(NM_032813:c.-6C>G)	TMTC4(uc001vot.3:c.-6C>G)	ENSG00000125247(ENST00000342624:c.-6C>G,ENST00000475272:c.-6C>G,ENST00000423847:c.-1628C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	643;20|32	Hom;G>C	1841;0|69
N	N	-	13	101327345	101327345	G	T	snp	UTR5	-4729C>A	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs2791682	0.38758	0	0	1	0	0	upstream	upstream	UTR5	TMTC4	TMTC4	ENSG00000125247(ENST00000475272:c.-4729C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	96;2|6	Hom;G>T	280;0|12
N	N	-	13	101327452	101327452	C	T	snp	upstream	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs2791683	0.378195	0	0	1	0	0	upstream	upstream	upstream	TMTC4	TMTC4	ENSG00000125247	Na	Na	Na	Na	Na	Na	Het;C>T	71;2|3	Hom;C>T	120;0|6
N	N	-	13	101357585	101357585	C	T	snp	intergenic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1340220	0.521965	0	0	1	0	0	intergenic	intergenic	intergenic	TMTC4(dist=30396),NALCN-AS1(dist=2994)	TMTC4(dist=30482),NALCN-AS1(dist=2994)	ENSG00000125247(dist=30238),ENSG00000233009(dist=2994)	Na	Na	Na	Na	Na	Na	Het;C>T	61;2|3	Hom;C>T	179;0|6
N	N	-	13	101357677	101357677	A	G	snp	intergenic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1711175	0.389177	0	0	1	0	0	intergenic	intergenic	intergenic	TMTC4(dist=30488),NALCN-AS1(dist=2902)	TMTC4(dist=30574),NALCN-AS1(dist=2902)	ENSG00000125247(dist=30330),ENSG00000233009(dist=2902)	Na	Na	Na	Na	Na	Na	Het;A>G	368;17|15	Hom;A>G	1262;0|47
N	N	-	13	101357810	101357810	T	C	snp	intergenic	 	 	 	 	TMTC4	Tmtc4	ENSG00000125247	transmembrane and tetratricopeptide repeat containing 4	chr13:101256181-101327347		Alcohol Drinking	Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMTC4	https://www.uniprot.org/uniprot/Q5T4D3			http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4	rs1632383	0.521965	0	0	1	0	0	intergenic	intergenic	intergenic	TMTC4(dist=30621),NALCN-AS1(dist=2769)	TMTC4(dist=30707),NALCN-AS1(dist=2769)	ENSG00000125247(dist=30463),ENSG00000233009(dist=2769)	Na	Na	Na	Na	Na	Na	Het;T>C	224;14|11	Hom;T>C	550;0|20
N	N	-	13	101409326	101409326	A	C	snp	ncRNA_intronic	 	 	 	 	NALCN-AS1																		rs9582409	0.0820687	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	NALCN-AS1	NALCN-AS1	ENSG00000233009	Na	Na	Na	Na	Na	Na	Het;A>C	31;3|2	Hom;A>C	101;0|4
N	N	-	13	102698415	102698415	A	G	snp	intronic	 	 	 	 	FGF14	Fgf14	ENSG00000102466	fibroblast growth factor 14	chr13:102372134-103054124	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; ataxia (SCA); spinocerebellar ataxia; Body Fat Distribution; Bone Density; Neuropsychological Tests; Magnesium; Brain; Heart Failure; Body Weight	Mice homozygous for disruptions in this gene display impaired balance and grip strength.	Phase 0 - rapid depolarisation	GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;TAS|GO:0048167;regulation of synaptic plasticity;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:1901843;positive regulation of high voltage-gated calcium channel activity;IEA|GO:1903421;regulation of synaptic vesicle recycling;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGF14	https://www.uniprot.org/uniprot/Q92915	https://hpo.jax.org/app/browse/search?q=FGF14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601515	http://www.informatics.jax.org/searchtool/Search.do?query=FGF14&submit=Quick%0D%2884ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF14	rs7337292	0.555711	0	0	1	0	0	intronic	intronic	intronic	FGF14	FGF14	ENSG00000102466	Na	Na	Na	Na	Na	Na	Het;A>G	326;8|16	Hom;A>G	883;0|32
N	N	-	13	102698459	102698459	G	A	snp	intronic	 	 	 	 	FGF14	Fgf14	ENSG00000102466	fibroblast growth factor 14	chr13:102372134-103054124	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; ataxia (SCA); spinocerebellar ataxia; Body Fat Distribution; Bone Density; Neuropsychological Tests; Magnesium; Brain; Heart Failure; Body Weight	Mice homozygous for disruptions in this gene display impaired balance and grip strength.	Phase 0 - rapid depolarisation	GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;TAS|GO:0048167;regulation of synaptic plasticity;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:1901843;positive regulation of high voltage-gated calcium channel activity;IEA|GO:1903421;regulation of synaptic vesicle recycling;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGF14	https://www.uniprot.org/uniprot/Q92915	https://hpo.jax.org/app/browse/search?q=FGF14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601515	http://www.informatics.jax.org/searchtool/Search.do?query=FGF14&submit=Quick%0D%2884ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF14	rs667685	0.642772	0	0	1	0	0	intronic	intronic	intronic	FGF14	FGF14	ENSG00000102466	Na	Na	Na	Na	Na	Na	Het;G>A	103;3|5	Hom;G>A	414;0|15
N	N	-	13	105430071	105430071	A	AT	indel	intergenic	 	 	 	 	ATP6V1G1P7																		rs11416106	0.304313	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01309(dist=1350036),DAOA-AS1(dist=681335)	MIR548AS(dist=1495223),DAOA-AS1(dist=681335)	ENSG00000230474(dist=1332753),ENSG00000225823(dist=36607)	Na	Na	Na	Na	Na	Na	Het;+T	1664;50|73	Hom;+T	2036;1|73
N	N	-	13	105729896	105729896	C	T	snp	intergenic	 	 	 	 	RPL7P45																		rs9300993	0.847244	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01309(dist=1649861),DAOA-AS1(dist=381510)	MIR548AS(dist=1795048),DAOA-AS1(dist=381510)	ENSG00000225823(dist=262476),ENSG00000232307(dist=381508)	Na	Na	Na	Na	Na	Na	Het;C>T	423;26|25	Hom;C>T	1608;1|65
N	N	-	13	105780229	105780229	C	G	snp	intergenic	 	 	 	 	RPL7P45																		rs4511394	0.80651	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01309(dist=1700194),DAOA-AS1(dist=331177)	MIR548AS(dist=1845381),DAOA-AS1(dist=331177)	ENSG00000225823(dist=312809),ENSG00000232307(dist=331175)	Na	Na	Na	Na	Na	Na	Het;C>G	246;8|10	Hom;C>G	652;0|20
N	N	-	13	106119446	106119446	G	A	snp	nonsynonymous SNV	G89A	R30K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	DAOA		ENSG00000182346	D-amino acid oxidase activator	chr13:106118216-106143383	This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]	Breath Tests; Hip; cognitive function schizophrenia; Glomerular Filtration Rate; schizophrenia; affective disorder; schizophrenia; psychoses; Body Height; Triglycerides; autism; Stroke; Schizophrenia; Macular Degeneration; Arteries; null; delusional disorder; Alzheimer's disease ; Carotid Artery Diseases; mood disorders; Mental Disorders; cognitive function schizotypy; Lipoproteins; Socioeconomic Factors; methamphetamine psychosis; normal variation; Schizophrenia|bipolar disorder; Marijuana Abuse|Psychoses, Substance-Induced; Carotid Arteries; bipolar disorder mood disorder schizophrenia; cognitive ability; depression; Creatinine; bipolar disorder schizophrenia; bipolar disorder; Erythrocytes; Bipolar Disorder			GO:0043085;positive regulation of catalytic activity;IDA|GO:1900758;negative regulation of D-amino-acid oxidase activity;IDA	GO:0005739;mitochondrion;IDA|GO:0005794;Golgi apparatus;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0008047;enzyme activator activity;IDA|GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DAOA			https://www.ncbi.nlm.nih.gov/omim/?term=607408	http://www.informatics.jax.org/searchtool/Search.do?query=DAOA&submit=Quick%0D%14777ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAOA	rs2391191	0.361821	0.2937	0.3898	0.08	1	12	exonic	exonic	exonic	DAOA	DAOA	ENSG00000182346	nonsynonymous SNV	nonsynonymous SNV	unknown	DAOA:NM_172370:exon2:c.G89A:p.R30K,	DAOA:uc001vqb.3:exon2:c.G89A:p.R30K,	UNKNOWN	Het;G>A	987;43|47	Hom;G>A	1973;1|75
N	N	-	13	106913972	106913972	T	G	snp	intergenic	 	 	 	 	RNA5SP38																		rs354467	0.172125	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00343(dist=499827),LINC00460(dist=114939)	5S_rRNA(dist=106133),LINC00460(dist=114939)	ENSG00000222682(dist=106133),ENSG00000233532(dist=114939)	Na	Na	Na	Na	Na	Na	Het;T>G	264;11|10	Hom;T>G	805;2|27
N	N	-	13	107165255	107165255	C	G	snp	intronic	 	 	 	 	EFNB2	Efnb2	ENSG00000125266	ephrin B2	chr13:107142079-107187462	This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]	Schizophrenia; Natriuretic Peptide, Brain; Kidney Failure, Chronic|Neovascularization, Pathologic; Apolipoproteins B	Homozygotes for targeted null mutations exhibit defects in angiogenesis of both arteries and veins and die by embryonic day 11.5.	EPH-ephrin mediated repulsion of cells	GO:0001525;angiogenesis;IEA|GO:0001945;lymph vessel development;IEA|GO:0002042;cell migration involved in sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007611;learning or memory;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010839;negative regulation of keratinocyte proliferation;IEA|GO:0016032;viral process;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0031295;T cell costimulation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048167;regulation of synaptic plasticity;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050920;regulation of chemotaxis;IDA|GO:0072178;nephric duct morphogenesis;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:1904782;negative regulation of NMDA glutamate receptor activity;IEA|GO:1904783;positive regulation of NMDA glutamate receptor activity;IEA|GO:2000727;positive regulation of cardiac muscle cell differentiation;ISS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046875;ephrin receptor binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/EFNB2	https://www.uniprot.org/uniprot/P52799		https://www.ncbi.nlm.nih.gov/omim/?term=600527	http://www.informatics.jax.org/searchtool/Search.do?query=EFNB2&submit=Quick%0D%5753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFNB2	rs9520090	0.434904	0	0	1	0	0	intronic	intronic	intronic	EFNB2	EFNB2	ENSG00000125266	Na	Na	Na	Na	Na	Na	Het;C>G	103;4|4	Hom;C>G	262;0|9
N	N	-	13	107279148	107279148	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00551																		rs4772806	0.772364	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00551	LINC00551	ENSG00000272274	Na	Na	Na	Na	Na	Na	Het;C>T	1103;61|54	Hom;C>T	2426;0|90
N	N	-	13	107279344	107279345	AC	A	indel	ncRNA_exonic	 	 	 	 	LINC00551																		rs66992944	0.772564	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00551	LINC00551	ENSG00000272274	Na	Na	Na	Na	Na	Na	Het;-C	1059;55|41	Hom;-C	3557;2|107
N	N	-	13	107279609	107279609	G	C	snp	ncRNA_intronic	 	 	 	 	LINC00551																		rs60641060	0.771366	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00551	LINC00551	ENSG00000272274	Na	Na	Na	Na	Na	Na	Het;G>C	137;1|4	Hom;G>C	107;0|3
N	N	-	13	107279613	107279613	C	T	snp	ncRNA_intronic	 	 	 	 	LINC00551																		rs60166986	0.265176	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00551	LINC00551	ENSG00000272274	Na	Na	Na	Na	Na	Na	Het;C>T	137;1|4	Hom;C>T	107;0|3
N	N	-	13	108440010	108440010	T	A	snp	ncRNA_exonic	 	 	 	 	FAM155A-IT1																		rs4083985	0.638179	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	FAM155A-IT1	BC043519	ENSG00000204442	Na	Na	Na	Na	Na	Na	Het;T>A	1436;97|66	Hom;T>A	3969;0|144
N	N	-	13	109562621	109562621	T	A	snp	intronic	 	 	 	 	MYO16	Myo16	ENSG00000282848	myosin XVI	chr13:109248500-109860355		Alcoholism; Creatinine; Coronary Artery Disease; Lipoproteins, VLDL; Cholesterol, HDL; Basophils; Cholesterol; Type 2 Diabetes| edema | rosiglitazone; Stroke; Macular Degeneration; Apolipoproteins B; Respiratory Function Tests; Magnesium; Triglycerides; Resistin; Heart Failure; Tobacco Use Disorder; Diabetic Nephropathies	Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons.		GO:0008285;negative regulation of cell proliferation;ISS|GO:0021549;cerebellum development;ISS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;ISS|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA|GO:0051015;actin filament binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MYO16	https://www.uniprot.org/uniprot/Q9Y6X6		https://www.ncbi.nlm.nih.gov/omim/?term=615479	http://www.informatics.jax.org/searchtool/Search.do?query=MYO16&submit=Quick%0D%22633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO16	rs2195734	0.45607	0	0	1	0	0	intronic	intronic	intronic	MYO16	MYO16	ENSG00000041515	Na	Na	Na	Na	Na	Na	Het;T>A	179;9|7	Hom;T>A	259;0|8
N	N	-	13	109819727	109819728	TA	T	indel	ncRNA_intronic	 	 	 	 	MYO16-AS1																		rs11299162	0.60024	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYO16	MYO16	ENSG00000236242	Na	Na	Na	Na	Na	Na	Het;-A	162;3|11	Hom;-A	87;0|5
N	N	-	13	109858890	109858890	A	AT	indel	intronic	 	 	 	 	MYO16	Myo16	ENSG00000282848	myosin XVI	chr13:109248500-109860355		Alcoholism; Creatinine; Coronary Artery Disease; Lipoproteins, VLDL; Cholesterol, HDL; Basophils; Cholesterol; Type 2 Diabetes| edema | rosiglitazone; Stroke; Macular Degeneration; Apolipoproteins B; Respiratory Function Tests; Magnesium; Triglycerides; Resistin; Heart Failure; Tobacco Use Disorder; Diabetic Nephropathies	Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons.		GO:0008285;negative regulation of cell proliferation;ISS|GO:0021549;cerebellum development;ISS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;ISS|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA|GO:0051015;actin filament binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MYO16	https://www.uniprot.org/uniprot/Q9Y6X6		https://www.ncbi.nlm.nih.gov/omim/?term=615479	http://www.informatics.jax.org/searchtool/Search.do?query=MYO16&submit=Quick%0D%22633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO16	rs11430851	0.186502	0	0	1	0	0	intronic	intronic	intronic	MYO16	MYO16	ENSG00000041515	Na	Na	Na	Na	Na	Na	Het;+T	266;2|9	Hom;+T	785;0|22
N	N	-	13	110843985	110843985	T	C	snp	synonymous SNV	A1548G	Q516Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	COL4A1	Col4a1	ENSG00000187498	collagen type IV alpha 1 chain	chr13:110801318-110959496	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	periodontitis; monocyte chemoattractant protein 1 (66-77); Mental Disorders; Waist-Hip Ratio; Vascular Calcification; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Coronary Artery Disease; Intracranial Aneurysm; Waist Circumference; hypertension; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Fibrinogen; null; Type 2 Diabetes| edema | rosiglitazone; Arterial stiffness	Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP|GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IMP|GO:0005604;basement membrane;IC|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL4A1	https://www.uniprot.org/uniprot/P02462	https://hpo.jax.org/app/browse/search?q=COL4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120130	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A1&submit=Quick%0D%237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A1	rs1373744	0.916134	0	0.9899	1	0	0	exonic	intronic	exonic	COL4A1	COL4A1	ENSG00000187498	synonymous SNV	Na	unknown	COL4A1:NM_001303110:exon25:c.A1548G:p.Q516Q,	Na	UNKNOWN	Het;T>C	1318;57|64	Hom;T>C	3505;0|125
N	N	-	13	110857823	110857823	C	T	snp	intronic	 	 	 	 	COL4A1	Col4a1	ENSG00000187498	collagen type IV alpha 1 chain	chr13:110801318-110959496	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	periodontitis; monocyte chemoattractant protein 1 (66-77); Mental Disorders; Waist-Hip Ratio; Vascular Calcification; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Coronary Artery Disease; Intracranial Aneurysm; Waist Circumference; hypertension; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Fibrinogen; null; Type 2 Diabetes| edema | rosiglitazone; Arterial stiffness	Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP|GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IMP|GO:0005604;basement membrane;IC|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL4A1	https://www.uniprot.org/uniprot/P02462	https://hpo.jax.org/app/browse/search?q=COL4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120130	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A1&submit=Quick%0D%237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A1	rs482757	0.59345	0.5686	0.6193	1	0	0	intronic	intronic	intronic	COL4A1	COL4A1	ENSG00000187498	Na	Na	Na	Na	Na	Na	Het;C>T	869;101|44	Hom;C>T	3281;0|124
N	N	-	13	110857895	110857895	A	G	snp	intronic	 	 	 	 	COL4A1	Col4a1	ENSG00000187498	collagen type IV alpha 1 chain	chr13:110801318-110959496	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	periodontitis; monocyte chemoattractant protein 1 (66-77); Mental Disorders; Waist-Hip Ratio; Vascular Calcification; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Coronary Artery Disease; Intracranial Aneurysm; Waist Circumference; hypertension; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Fibrinogen; null; Type 2 Diabetes| edema | rosiglitazone; Arterial stiffness	Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP|GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IMP|GO:0005604;basement membrane;IC|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL4A1	https://www.uniprot.org/uniprot/P02462	https://hpo.jax.org/app/browse/search?q=COL4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120130	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A1&submit=Quick%0D%237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A1	rs677877	0.596446	0.5701	0.6222	1	0	0	intronic	intronic	intronic	COL4A1	COL4A1	ENSG00000187498	Na	Na	Na	Na	Na	Na	Het;A>G	656;62|32	Hom;A>G	2241;0|81
N	N	-	13	110859534	110859534	G	C	snp	intronic	 	 	 	 	COL4A1	Col4a1	ENSG00000187498	collagen type IV alpha 1 chain	chr13:110801318-110959496	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	periodontitis; monocyte chemoattractant protein 1 (66-77); Mental Disorders; Waist-Hip Ratio; Vascular Calcification; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Coronary Artery Disease; Intracranial Aneurysm; Waist Circumference; hypertension; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Fibrinogen; null; Type 2 Diabetes| edema | rosiglitazone; Arterial stiffness	Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP|GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IMP|GO:0005604;basement membrane;IC|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL4A1	https://www.uniprot.org/uniprot/P02462	https://hpo.jax.org/app/browse/search?q=COL4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120130	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A1&submit=Quick%0D%237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A1	rs587596	0.596246	0	0	1	0	0	intronic	intronic	intronic	COL4A1	COL4A1	ENSG00000187498	Na	Na	Na	Na	Na	Na	Het;G>C	54;1|3	Hom;G>C	191;0|6
N	N	-	13	110859743	110859743	C	T	snp	intronic	 	 	 	 	COL4A1	Col4a1	ENSG00000187498	collagen type IV alpha 1 chain	chr13:110801318-110959496	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	periodontitis; monocyte chemoattractant protein 1 (66-77); Mental Disorders; Waist-Hip Ratio; Vascular Calcification; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Coronary Artery Disease; Intracranial Aneurysm; Waist Circumference; hypertension; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Fibrinogen; null; Type 2 Diabetes| edema | rosiglitazone; Arterial stiffness	Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP|GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IMP|GO:0005604;basement membrane;IC|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL4A1	https://www.uniprot.org/uniprot/P02462	https://hpo.jax.org/app/browse/search?q=COL4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120130	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A1&submit=Quick%0D%237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A1	rs598893	0.596046	0.5687	0.6210	1	0	0	intronic	intronic	intronic	COL4A1	COL4A1	ENSG00000187498	Na	Na	Na	Na	Na	Na	Het;C>T	996;17|45	Hom;C>T	1650;0|63
N	N	-	13	110864225	110864225	A	T	snp	synonymous SNV	T432A	A144A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	COL4A1	Col4a1	ENSG00000187498	collagen type IV alpha 1 chain	chr13:110801318-110959496	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	periodontitis; monocyte chemoattractant protein 1 (66-77); Mental Disorders; Waist-Hip Ratio; Vascular Calcification; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Coronary Artery Disease; Intracranial Aneurysm; Waist Circumference; hypertension; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Fibrinogen; null; Type 2 Diabetes| edema | rosiglitazone; Arterial stiffness	Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP|GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IMP|GO:0007420;brain development;IMP|GO:0007528;neuromuscular junction development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IMP|GO:0061304;retinal blood vessel morphogenesis;IMP|GO:0061333;renal tubule morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071711;basement membrane organization;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IMP|GO:0005604;basement membrane;IC|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL4A1	https://www.uniprot.org/uniprot/P02462	https://hpo.jax.org/app/browse/search?q=COL4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120130	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A1&submit=Quick%0D%237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A1	rs532625	0.472843	0.4396	0.4672	1	0	0	exonic	exonic	exonic	COL4A1	COL4A1	ENSG00000187498	synonymous SNV	synonymous SNV	unknown	COL4A1:NM_001303110:exon7:c.T432A:p.A144A,COL4A1:NM_001845:exon7:c.T432A:p.A144A,	COL4A1:uc001vqw.4:exon7:c.T432A:p.A144A,	UNKNOWN	Het;A>T	2371;133|117	Hom;A>T	5936;0|221
N	N	-	13	110993190	110993190	G	A	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs7335876	0.652157	0	0	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;G>A	140;2|6	Hom;G>A	149;0|5
N	N	-	13	111109157	111109157	G	A	snp	ncRNA_exonic	 	 	 	 	COL4A2-AS2																		rs28502737	0.480631	0	0.5433	1	0	0	intronic	intronic	ncRNA_exonic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;G>A	367;13|16	Hom;G>A	1013;0|40
N	N	-	13	111109859	111109859	A	G	snp	ncRNA_intronic	 	 	 	 	COL4A2-AS2																		rs9515218	0.489617	0	0.5764	1	0	0	intronic	intronic	ncRNA_intronic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;A>G	1613;91|76	Hom;A>G	3491;2|120
N	N	-	13	111109960	111109960	T	C	snp	ncRNA_intronic	 	 	 	 	COL4A2-AS2																		rs9515219	0.490016	0	0.5438	1	0	0	intronic	intronic	ncRNA_intronic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;T>C	1706;87|80	Hom;T>C	3673;1|133
N	N	-	13	111110418	111110418	G	C	snp	ncRNA_intronic	 	 	 	 	COL4A2-AS2																		rs7325055	0.489816	0	0.5675	1	0	0	intronic	intronic	ncRNA_intronic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;G>C	629;28|30	Hom;G>C	1629;0|55
N	N	-	13	111110666	111110666	T	C	snp	ncRNA_intronic	 	 	 	 	COL4A2-AS2																		rs7326779	0.489816	0	0.5543	1	0	0	intronic	intronic	ncRNA_intronic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;T>C	934;29|30	Hom;T>C	1419;2|36
N	N	-	13	111110674	111110674	C	G	snp	ncRNA_intronic	 	 	 	 	COL4A2-AS2																		rs7325334	0.482029	0	0.5467	1	0	0	intronic	intronic	ncRNA_intronic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;C>G	736;31|17	Hom;C>G	1352;2|31
N	N	-	13	111111023	111111023	T	C	snp	ncRNA_intronic	 	 	 	 	COL4A2-AS2																		rs9521781	0.491014	0	0	1	0	0	intronic	intronic	ncRNA_intronic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;T>C	584;6|15	Hom;T>C	771;0|18
N	N	-	13	111111043	111111043	G	A	snp	ncRNA_intronic	 	 	 	 	COL4A2-AS2																		rs9521782	0.490216	0	0	1	0	0	intronic	intronic	ncRNA_intronic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;G>A	632;8|17	Hom;G>A	905;0|23
N	N	-	13	111111173	111111173	G	A	snp	synonymous SNV	G1488A	P496P	hydrophobic,neutral	hydrophobic,neutral	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs7990214	0.491414	0.6210	0.5288	1	0	0	exonic	exonic	exonic	COL4A2	COL4A2	ENSG00000134871	synonymous SNV	synonymous SNV	unknown	COL4A2:NM_001846:exon22:c.G1488A:p.P496P,	COL4A2:uc001vqx.3:exon22:c.G1488A:p.P496P,	UNKNOWN	Het;G>A	1088;64|52	Hom;G>A	3905;0|145
N	N	-	13	111111235	111111235	G	A	snp	nonsynonymous SNV	G1550A	R517K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs7990383	0.509185	0.6346	0.5390	0.15	2	13	exonic	exonic	exonic	COL4A2	COL4A2	ENSG00000134871	nonsynonymous SNV	nonsynonymous SNV	unknown	COL4A2:NM_001846:exon22:c.G1550A:p.R517K,	COL4A2:uc001vqx.3:exon22:c.G1550A:p.R517K,	UNKNOWN	Het;G>A	878;68|46	Hom;G>A	3560;0|138
N	N	-	13	111115467	111115467	G	A	snp	ncRNA_exonic	 	 	 	 	COL4A2-AS2																		rs9521786	0.510583	0	0	1	0	0	intronic	intronic	ncRNA_exonic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;G>A	957;24|28	Hom;G>A	1877;2|47
N	N	-	13	111115480	111115480	C	T	snp	ncRNA_exonic	 	 	 	 	COL4A2-AS2																		rs9515223	0.510583	0	0	1	0	0	intronic	intronic	ncRNA_exonic	COL4A2	COL4A2	ENSG00000224821	Na	Na	Na	Na	Na	Na	Het;C>T	806;16|21	Hom;C>T	1637;2|39
N	N	-	13	111117745	111117745	C	T	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs3803236	0.513978	0.6132	0.5383	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;C>T	139;12|6	Hom;C>T	456;0|17
N	N	-	13	111118221	111118221	T	C	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs1983932	0.513778	0	0	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;T>C	68;3|3	Hom;T>C	274;0|9
N	N	-	13	111118546	111118546	T	G	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs1927350	0.534345	0	0	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;T>G	199;3|7	Hom;T>G	301;0|8
N	N	-	13	111118574	111118574	A	G	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs1927351	0.534145	0	0	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;A>G	83;2|4	Hom;A>G	152;0|4
N	N	-	13	111119296	111119296	A	G	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs3803232	0.532348	0	0	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;A>G	307;12|14	Hom;A>G	814;0|27
N	N	-	13	111121483	111121483	A	G	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs9559814	0.525759	0	0	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;A>G	59;2|3	Hom;A>G	269;0|9
N	N	-	13	111121717	111121717	A	G	snp	intronic	 	 	 	 	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs9515229	0.525759	0.6482	0.5684	1	0	0	intronic	intronic	intronic	COL4A2	COL4A2	ENSG00000134871	Na	Na	Na	Na	Na	Na	Het;A>G	547;14|23	Hom;A>G	1423;0|50
N	N	-	13	111158874	111158874	A	G	snp	synonymous SNV	A4515G	P1505P	hydrophobic,neutral	hydrophobic,neutral	COL4A2	Col4a2	ENSG00000134871	collagen type IV alpha 2 chain	chr13:110958159-111165374	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]	Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer	ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL4A2	https://www.uniprot.org/uniprot/P08572	https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120090	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2	rs445348	0.751997	0.8709	0.8329	1	0	0	exonic	exonic	exonic	COL4A2	COL4A2	ENSG00000134871	synonymous SNV	synonymous SNV	unknown	COL4A2:NM_001846:exon46:c.A4515G:p.P1505P,	COL4A2:uc001vqx.3:exon46:c.A4515G:p.P1505P,	UNKNOWN	Het;A>G	1214;33|59	Hom;A>G	1690;0|64
N	N	-	13	111176519	111176519	G	T	snp	synonymous SNV	C198A	G66G	aliphatic,neutral	aliphatic,neutral	RAB20	Rab20	ENSG00000139832	RAB20, member RAS oncogene family	chr13:111175417-111214080		Tobacco Use Disorder	Mice homozygous for a knock-out allele fail to develop M. tuberculosis-containing proteolytic spacious phagosomes.	RAB geranylgeranylation	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030100;regulation of endocytosis;IBA|GO:0090383;phagosome acidification;IMP|GO:0090385;phagosome-lysosome fusion;IMP	GO:0005769;early endosome;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045335;phagocytic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAB20	https://www.uniprot.org/uniprot/Q9NX57			http://www.informatics.jax.org/searchtool/Search.do?query=RAB20&submit=Quick%0D%7944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB20	rs375814	0.380192	0.3949	0.3703	1	0	0	exonic	exonic	exonic	RAB20	RAB20	ENSG00000139832	synonymous SNV	synonymous SNV	unknown	RAB20:NM_017817:exon2:c.C198A:p.G66G,	RAB20:uc001vqy.3:exon2:c.C198A:p.G66G,	UNKNOWN	Het;G>T	442;27|22	Hom;G>T	1285;0|49
N	N	-	13	111176616	111176616	G	T	snp	intronic	 	 	 	 	RAB20	Rab20	ENSG00000139832	RAB20, member RAS oncogene family	chr13:111175417-111214080		Tobacco Use Disorder	Mice homozygous for a knock-out allele fail to develop M. tuberculosis-containing proteolytic spacious phagosomes.	RAB geranylgeranylation	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030100;regulation of endocytosis;IBA|GO:0090383;phagosome acidification;IMP|GO:0090385;phagosome-lysosome fusion;IMP	GO:0005769;early endosome;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045335;phagocytic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAB20	https://www.uniprot.org/uniprot/Q9NX57			http://www.informatics.jax.org/searchtool/Search.do?query=RAB20&submit=Quick%0D%7944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB20	rs1062004	0.33766	0	0	1	0	0	intronic	intronic	intronic	RAB20	RAB20	ENSG00000139832	Na	Na	Na	Na	Na	Na	Het;G>T	266;6|14	Hom;G>T	475;0|19
N	N	-	13	111340342	111340342	G	A	snp	synonymous SNV	C417T	L139L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CARS2	Cars2	ENSG00000134905	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	chr13:111293759-111365950	This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]	Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for an ENU-induced allele develop induced hyperactivity followed by head bobbing and tremors.	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006423;cysteinyl-tRNA aminoacylation;IBA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA	GO:0000166;nucleotide binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004817;cysteine-tRNA ligase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CARS2	https://www.uniprot.org/uniprot/Q9HA77	https://hpo.jax.org/app/browse/search?q=CARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612800	http://www.informatics.jax.org/searchtool/Search.do?query=CARS2&submit=Quick%0D%7056ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARS2	rs2304767	0.147963	0.2445	0.2530	1	0	0	exonic	exonic	exonic	CARS2	CARS2	ENSG00000134905	synonymous SNV	synonymous SNV	unknown	CARS2:NM_024537:exon4:c.C417T:p.L139L,	CARS2:uc001vrd.2:exon4:c.C417T:p.L139L,	UNKNOWN	Het;G>A	504;38|27	Hom;G>A	1381;0|54
N	N	-	13	111358488	111358488	G	A	snp	UTR5	-48C>T	 	 	 	CARS2	Cars2	ENSG00000134905	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	chr13:111293759-111365950	This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]	Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for an ENU-induced allele develop induced hyperactivity followed by head bobbing and tremors.	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006423;cysteinyl-tRNA aminoacylation;IBA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA	GO:0000166;nucleotide binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004817;cysteine-tRNA ligase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CARS2	https://www.uniprot.org/uniprot/Q9HA77	https://hpo.jax.org/app/browse/search?q=CARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612800	http://www.informatics.jax.org/searchtool/Search.do?query=CARS2&submit=Quick%0D%7056ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARS2	rs3818496	0.577276	0	0.7661	1	0	0	UTR5	upstream	UTR5	CARS2(NM_024537:c.-48C>T)	CARS2	ENSG00000134905(ENST00000257347:c.-48C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	306;19|18	Hom;G>A	790;0|31
N	N	-	13	111368316	111368316	C	T	snp	synonymous SNV	C526T	L176L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ING1	Ing1	ENSG00000153487	inhibitor of growth family member 1	chr13:111365083-111373421	This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	colorectal cancer; healthy oldest-old	Homozygous null mice display a slight decrease in body weight, moderately impaired maternal nurturing, increased sensitivity to gamma-irradiation, and increased incidence of B-cell derived lymphomas.		GO:0006606;protein import into nucleus;IEA|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010941;regulation of cell death;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030308;negative regulation of cell growth;NAS|GO:0045893;positive regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ING1	https://www.uniprot.org/uniprot/Q9UK53	https://hpo.jax.org/app/browse/search?q=ING1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601566	http://www.informatics.jax.org/searchtool/Search.do?query=ING1&submit=Quick%0D%9667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ING1	rs9555726	0.58147	0.6328	0.6955	1	0	0	exonic	exonic	exonic	ING1	ING1	ENSG00000153487	synonymous SNV	synonymous SNV	unknown	ING1:NM_005537:exon1:c.C526T:p.L176L,	ING1:uc001vri.3:exon1:c.C526T:p.L176L,	UNKNOWN	Het;C>T	1347;56|68	Hom;C>T	3714;0|145
N	N	-	13	111448347	111448347	T	G	snp	intergenic	 	 	 	 	RPL21P107																		rs9521944	0.202875	0	0	1	0	0	intergenic	intergenic	intergenic	ING1(dist=74926),LINC00346(dist=67987)	ING1(dist=74926),LINC00346(dist=67987)	ENSG00000225239(dist=32867),ENSG00000259831(dist=13676)	Na	Na	Na	Na	Na	Na	Het;T>G	183;8|8	Hom;T>G	54;0|2
N	N	-	13	111531742	111531742	A	G	snp	ncRNA_exonic	 	 	 	 	DKFZp686B07190																		rs3809343	0.176518	0	0	1	0	0	UTR3	ncRNA_exonic	UTR3	ANKRD10(NM_017664:c.*242T>C)	DKFZp686B07190	ENSG00000088448(ENST00000267339:c.*242T>C,ENST00000375758:c.*936T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1901;75|83	Hom;A>G	4462;1|153
N	N	-	13	111545023	111545023	T	TA	indel	intronic	 	 	 	 	ANKRD10	Ankrd10	ENSG00000088448	ankyrin repeat domain 10	chr13:111530887-111567416			 		GO:0060828;regulation of canonical Wnt signaling pathway;IBA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD10	https://www.uniprot.org/uniprot/Q9NXR5			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD10&submit=Quick%0D%2002ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD10	rs11446794	0.763578	0	0	1	0	0	intronic	intronic	intronic	ANKRD10	ANKRD10	ENSG00000088448	Na	Na	Na	Na	Na	Na	Het;+A	355;6|21	Hom;+A	353;3|19
N	N	-	13	111545198	111545198	A	AGT	indel	UTR3	*299T>ACT	 	 	 	ANKRD10	Ankrd10	ENSG00000088448	ankyrin repeat domain 10	chr13:111530887-111567416			 		GO:0060828;regulation of canonical Wnt signaling pathway;IBA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD10	https://www.uniprot.org/uniprot/Q9NXR5			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD10&submit=Quick%0D%2002ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD10	rs10664568	0.321086	0	0	1	0	0	UTR3	UTR3	UTR3	ANKRD10(NM_001286721:c.*299T>ACT)	ANKRD10(uc001vro.1:c.*299T>ACT)	ENSG00000088448(ENST00000310847:c.*299T>ACT)	Na	Na	Na	Na	Na	Na	Het;+GT	2892;100|77	Hom;+GT	7484;2|172
N	N	-	13	111562803	111562803	T	C	snp	intronic	 	 	 	 	ANKRD10	Ankrd10	ENSG00000088448	ankyrin repeat domain 10	chr13:111530887-111567416			 		GO:0060828;regulation of canonical Wnt signaling pathway;IBA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD10	https://www.uniprot.org/uniprot/Q9NXR5			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD10&submit=Quick%0D%2002ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD10	rs35930208	0.301917	0	0	1	0	0	intronic	intronic	intronic	ANKRD10	ANKRD10	ENSG00000088448	Na	Na	Na	Na	Na	Na	Het;T>C	150;4|6	Hom;T>C	288;0|8
N	N	-	13	111567385	111567385	T	C	snp	UTR5	-104A>G	 	 	 	ANKRD10	Ankrd10	ENSG00000088448	ankyrin repeat domain 10	chr13:111530887-111567416			 		GO:0060828;regulation of canonical Wnt signaling pathway;IBA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD10	https://www.uniprot.org/uniprot/Q9NXR5			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD10&submit=Quick%0D%2002ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD10	rs4773274	0.169329	0	0	1	0	0	UTR5	UTR5	UTR5	ANKRD10(NM_017664:c.-104A>G,NM_001286721:c.-104A>G)	ANKRD10(uc001vrn.3:c.-104A>G,uc001vro.1:c.-104A>G)	ENSG00000088448(ENST00000267339:c.-104A>G,ENST00000375758:c.-104A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	382;17|17	Hom;T>C	799;0|29
N	N	-	13	111806040	111806040	T	G	snp	UTR5	-63989T>G	 	 	 	ARHGEF7	Arhgef7	ENSG00000102606	Rho guanine nucleotide exchange factor 7	chr13:111766906-111958084	This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]	serum bilirubin levels; menopause (age at onset); Bilirubin	 	G alpha (12/13) signalling events	GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007030;Golgi organization;IMP|GO:0007165;signal transduction;TAS|GO:0007399;nervous system development;IEA|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0030032;lamellipodium assembly;ISS|GO:0032092;positive regulation of protein binding;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048041;focal adhesion assembly;IDA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0060124;positive regulation of growth hormone secretion;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1904424;regulation of GTP binding;IMP|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP	GO:0000322;storage vacuole;IEA|GO:0001726;ruffle;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043234;protein complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF7	https://www.uniprot.org/uniprot/Q14155		https://www.ncbi.nlm.nih.gov/omim/?term=605477	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF7&submit=Quick%0D%2897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF7	rs9555774	0.0692891	0	0	1	0	0	intronic	UTR5	UTR5	ARHGEF7	ARHGEF7(uc001vrv.4:c.-63989T>G)	ENSG00000102606(ENST00000491775:c.-63989T>G,ENST00000544132:c.-111959T>G,ENST00000469877:c.-63989T>G,ENST00000466143:c.-63989T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	71;2|3	Hom;T>G	57;0|3
N	N	-	13	112323683	112323683	G	A	snp	intronic	 	 	 	 	AL359649.1																		rs9522343	0.366214	0	0	1	0	0	intergenic	intergenic	intronic	TEX29(dist=327089),LINC00354(dist=224009)	TEX29(dist=327089),SOX1(dist=398230)	ENSG00000204398	Na	Na	Na	Na	Na	Na	Het;G>A	152;20|9	Hom;G>A	697;0|26
N	N	-	13	112569455	112569455	A	C	snp	intergenic	 	 	 	 	ENSG00000264989																		rs9577778	0.415535	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00354(dist=13965),LINC00403(dist=57169)	TEX29(dist=572861),SOX1(dist=152458)	ENSG00000264989(dist=6307),ENSG00000200072(dist=136937)	Na	Na	Na	Na	Na	Na	Het;A>C	197;5|10	Hom;A>C	910;0|34
N	N	-	13	112713156	112713156	C	T	snp	ncRNA_intronic	 	 	 	 	LINC00403																		rs103067	0.0217652	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LINC00403	TEX29(dist=716562),SOX1(dist=8757)	ENSG00000200072(dist=6704),ENSG00000182968(dist=8757)	Na	Na	Na	Na	Na	Na	Het;C>T	41;2|3	Hom;C>T	155;0|7
N	N	-	13	112852538	112852538	C	T	snp	ncRNA_intronic	 	 	 	 	CR627049																		rs9324272	0.524161	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01070	CR627049	ENSG00000260102	Na	Na	Na	Na	Na	Na	Het;C>T	803;31|38	Hom;C>T	1885;0|67
N	N	-	13	112854202	112854202	C	A	snp	ncRNA_exonic	 	 	 	 	LINC01070																		rs928194	0.574481	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	LINC01070	CR627049	ENSG00000260102	Na	Na	Na	Na	Na	Na	Het;C>A	333;13|16	Hom;C>A	607;0|23
N	N	-	13	112854793	112854793	G	C	snp	ncRNA_exonic	 	 	 	 	LINC01070																		rs7982118	0.516773	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01070	CR627049	ENSG00000260102	Na	Na	Na	Na	Na	Na	Het;G>C	1340;63|57	Hom;G>C	3496;0|119
N	N	-	13	112855144	112855144	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01070																		rs188123	0.738419	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01070	CR627049	ENSG00000260102	Na	Na	Na	Na	Na	Na	Het;A>G	1445;121|75	Hom;A>G	4895;1|177
N	N	-	13	112855158	112855158	T	A	snp	ncRNA_exonic	 	 	 	 	LINC01070																		rs280810	0.738419	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01070	CR627049	ENSG00000260102	Na	Na	Na	Na	Na	Na	Het;T>A	1649;123|83	Hom;T>A	5089;1|184
N	N	-	13	113525952	113525952	A	G	snp	intronic	 	 	 	 	ATP11A	Atp11a	ENSG00000068650	ATPase phospholipid transporting 11A	chr13:113344643-113541482	The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a conditional allele activated in muscle cells exhibit abnormal myoblast function in culture and abnormal skeletal muscle regeneration.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;IDA|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP11A	https://www.uniprot.org/uniprot/P98196	https://hpo.jax.org/app/browse/search?q=ATP11A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605868	http://www.informatics.jax.org/searchtool/Search.do?query=ATP11A&submit=Quick%0D%1290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP11A	rs1765767	0.976837	0	0	1	0	0	intronic	intronic	intronic	ATP11A	ATP11A	ENSG00000068650	Na	Na	Na	Na	Na	Na	Het;A>G	277;10|11	Hom;A>G	403;0|13
N	N	-	13	113748690	113748690	C	T	snp	intronic	 	 	 	 	MCF2L	Mcf2l	ENSG00000126217	MCF.2 cell line derived transforming sequence like	chr13:113548692-113754053	This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]	Cardiovascular Diseases; Tobacco Use Disorder; Factor VII; coronary spastic angina	 	G alpha (12/13) signalling events	GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCF2L	https://www.uniprot.org/uniprot/O15068		https://www.ncbi.nlm.nih.gov/omim/?term=609499	http://www.informatics.jax.org/searchtool/Search.do?query=MCF2L&submit=Quick%0D%5915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCF2L	rs7327099	0.751198	0	0	1	0	0	intronic	intronic	intronic	MCF2L	MCF2L	ENSG00000126217	Na	Na	Na	Na	Na	Na	Het;C>T	35;3|2	Hom;C>T	226;0|8
N	N	-	13	113783990	113783990	C	T	snp	ncRNA_intronic	 	 	 	 	F10-AS1																		rs3211736	0.273762	0	0	1	0	0	ncRNA_intronic	intronic	intronic	F10-AS1	F10	ENSG00000126218	Na	Na	Na	Na	Na	Na	Het;C>T	976;64|50	Hom;C>T	1956;0|74
N	N	-	13	113792893	113792893	C	A	snp	intronic	 	 	 	 	F10	F10	ENSG00000126218	coagulation factor X	chr13:113777128-113803843	This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]	Alzheimer's disease ; Cardiovascular Diseases; Myocardial Infarction; Premature Birth; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cardiovascular Diseases|; Factor VII; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity	Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages.	Removal of aminoterminal propeptides from gamma-carboxylated proteins	GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007598;blood coagulation, extrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0017187;peptidyl-glutamic acid carboxylation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0051897;positive regulation of protein kinase B signaling;IDA	GO:0005576;extracellular region;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0031233;intrinsic component of external side of plasma membrane;IC	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F10	https://www.uniprot.org/uniprot/P00742	https://hpo.jax.org/app/browse/search?q=F10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613872	http://www.informatics.jax.org/searchtool/Search.do?query=F10&submit=Quick%0D%5916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F10	rs2026160	0.695288	0	0	1	0	0	intronic	intronic	intronic	F10	F10	ENSG00000126218	Na	Na	Na	Na	Na	Na	Het;C>A	516;17|26	Hom;C>A	1121;1|43
N	N	-	13	113801737	113801737	C	T	snp	synonymous SNV	C792T	T264T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	F10	F10	ENSG00000126218	coagulation factor X	chr13:113777128-113803843	This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]	Alzheimer's disease ; Cardiovascular Diseases; Myocardial Infarction; Premature Birth; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cardiovascular Diseases|; Factor VII; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity	Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages.	Removal of aminoterminal propeptides from gamma-carboxylated proteins	GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007598;blood coagulation, extrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0017187;peptidyl-glutamic acid carboxylation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0051897;positive regulation of protein kinase B signaling;IDA	GO:0005576;extracellular region;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0031233;intrinsic component of external side of plasma membrane;IC	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F10	https://www.uniprot.org/uniprot/P00742	https://hpo.jax.org/app/browse/search?q=F10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613872	http://www.informatics.jax.org/searchtool/Search.do?query=F10&submit=Quick%0D%5916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F10	rs5960	0.623203	0.7391	0.7597	1	0	0	exonic	exonic	exonic	F10	F10	ENSG00000126218	synonymous SNV	synonymous SNV	unknown	F10:NM_000504:exon7:c.C792T:p.T264T,	F10:uc001vsy.3:exon7:c.C792T:p.T264T,F10:uc001vsx.3:exon7:c.C792T:p.T264T,	UNKNOWN	Het;C>T	566;38|31	Hom;C>T	1208;0|46
N	N	-	13	113812962	113812962	G	A	snp	upstream	 	 	 	 	PROZ	Proz	ENSG00000126231	protein Z, vitamin K dependent plasma glycoprotein	chr13:113812968-113826694	This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]	Cardiovascular Diseases; cerebral venous thrombosis; Abortion, Habitual; Stroke|Thromboembolism; Intracranial Thrombosis|Venous Thrombosis; Severe Sepsis; Neoplasms|Thrombophilia|Thrombosis; Kidney Failure, Chronic; warfarin sensitivity; cerebral ischemia; pregnancy loss; Factor VII; Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke; Ischemia|Stroke; Behcet Syndrome|Venous Thrombosis; stroke, ischemic; Myocardial Infarction	When unchallenged, mice homozygous for a knock-out allele do not express an obvious phenotype; however, homozygotes exhibit significantly reduced survival following collagen/epinephrine-induced thromboembolism and develop enhanced thrombosis in the ferric chloride-induced arterial injury model.	Removal of aminoterminal propeptides from gamma-carboxylated proteins	GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0017187;peptidyl-glutamic acid carboxylation;TAS|GO:0030195;negative regulation of blood coagulation;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PROZ	https://www.uniprot.org/uniprot/P22891		https://www.ncbi.nlm.nih.gov/omim/?term=176895	http://www.informatics.jax.org/searchtool/Search.do?query=PROZ&submit=Quick%0D%5918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PROZ	rs2273971	0.658746	0.8417	0.8257	1	0	0	upstream	upstream	upstream	PROZ	PROZ	ENSG00000126231	Na	Na	Na	Na	Na	Na	Het;G>A	451;14|23	Hom;G>A	1217;0|46
N	N	-	13	113833499	113833499	G	A	snp	intronic	 	 	 	 	PCID2	Pcid2	ENSG00000126226	PCI domain containing 2	chr13:113831891-113863029	This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Homozygotes for a targeted null mutation implant, but die prior to embryonic day 7.5. Heterozygotes also exhibit excess embryonic loss.		GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006368;transcription elongation from RNA polymerase II promoter;IBA|GO:0016973;poly(A)+ mRNA export from nucleus;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043488;regulation of mRNA stability;IMP|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0048536;spleen development;ISS|GO:0071033;nuclear retention of pre-mRNA at the site of transcription;IBA|GO:0090267;positive regulation of mitotic cell cycle spindle assembly checkpoint;IMP|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IMP	GO:0005575;cellular_component;ND|GO:0005643;nuclear pore;IBA|GO:0035327;transcriptionally active chromatin;IBA|GO:0070390;transcription export complex 2;IBA	GO:0003690;double-stranded DNA binding;IBA|GO:0003723;RNA binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PCID2	https://www.uniprot.org/uniprot/Q5JVF3		https://www.ncbi.nlm.nih.gov/omim/?term=613713	http://www.informatics.jax.org/searchtool/Search.do?query=PCID2&submit=Quick%0D%5917ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCID2	rs486407	0.591653	0	0	1	0	0	intronic	intronic	intronic	PCID2	PCID2	ENSG00000126226	Na	Na	Na	Na	Na	Na	Het;G>A	350;10|11	Hom;G>A	685;0|21
N	N	-	13	113845059	113845059	T	C	snp	intronic	 	 	 	 	PCID2	Pcid2	ENSG00000126226	PCI domain containing 2	chr13:113831891-113863029	This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Homozygotes for a targeted null mutation implant, but die prior to embryonic day 7.5. Heterozygotes also exhibit excess embryonic loss.		GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006368;transcription elongation from RNA polymerase II promoter;IBA|GO:0016973;poly(A)+ mRNA export from nucleus;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043488;regulation of mRNA stability;IMP|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0048536;spleen development;ISS|GO:0071033;nuclear retention of pre-mRNA at the site of transcription;IBA|GO:0090267;positive regulation of mitotic cell cycle spindle assembly checkpoint;IMP|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IMP	GO:0005575;cellular_component;ND|GO:0005643;nuclear pore;IBA|GO:0035327;transcriptionally active chromatin;IBA|GO:0070390;transcription export complex 2;IBA	GO:0003690;double-stranded DNA binding;IBA|GO:0003723;RNA binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PCID2	https://www.uniprot.org/uniprot/Q5JVF3		https://www.ncbi.nlm.nih.gov/omim/?term=613713	http://www.informatics.jax.org/searchtool/Search.do?query=PCID2&submit=Quick%0D%5917ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCID2	rs556990	0.592053	0	0	1	0	0	intronic	intronic	intronic	PCID2	PCID2	ENSG00000126226	Na	Na	Na	Na	Na	Na	Het;T>C	286;12|9	Hom;T>C	543;0|15
N	N	-	13	113854715	113854715	C	T	snp	intronic	 	 	 	 	PCID2	Pcid2	ENSG00000126226	PCI domain containing 2	chr13:113831891-113863029	This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Homozygotes for a targeted null mutation implant, but die prior to embryonic day 7.5. Heterozygotes also exhibit excess embryonic loss.		GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006368;transcription elongation from RNA polymerase II promoter;IBA|GO:0016973;poly(A)+ mRNA export from nucleus;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043488;regulation of mRNA stability;IMP|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0048536;spleen development;ISS|GO:0071033;nuclear retention of pre-mRNA at the site of transcription;IBA|GO:0090267;positive regulation of mitotic cell cycle spindle assembly checkpoint;IMP|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IMP	GO:0005575;cellular_component;ND|GO:0005643;nuclear pore;IBA|GO:0035327;transcriptionally active chromatin;IBA|GO:0070390;transcription export complex 2;IBA	GO:0003690;double-stranded DNA binding;IBA|GO:0003723;RNA binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PCID2	https://www.uniprot.org/uniprot/Q5JVF3		https://www.ncbi.nlm.nih.gov/omim/?term=613713	http://www.informatics.jax.org/searchtool/Search.do?query=PCID2&submit=Quick%0D%5917ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCID2	rs3751413	0.582268	0.7128	0.6817	1	0	0	intronic	intronic	intronic	PCID2	PCID2	ENSG00000126226	Na	Na	Na	Na	Na	Na	Het;C>T	913;23|39	Hom;C>T	1952;0|70
N	N	-	13	113889474	113889474	C	T	snp	ncRNA_exonic	 	 	 	 	AK126278																		rs2287250	0.573283	0.7040	0.6738	1	0	0	intronic	ncRNA_exonic	intronic	CUL4A	AK126278	ENSG00000139842	Na	Na	Na	Na	Na	Na	Het;C>T	848;64|45	Hom;C>T	3603;0|134
N	N	-	13	113891075	113891075	G	A	snp	UTR5	-2719G>A	 	 	 	CUL4A	Cul4a	ENSG00000139842	cullin 4A	chr13:113862552-113919399	CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009]	longevity	Mice homozygous for one knock-out allele exhibit reduced female fertility, male infertility, impaired spermatogenesis, and impaired DNA repair.	Neddylation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001701;in utero embryonic development;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030097;hemopoiesis;IEA|GO:0030853;negative regulation of granulocyte differentiation;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0042769;DNA damage response, detection of DNA damage;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051246;regulation of protein metabolic process;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000001;regulation of DNA damage checkpoint;IEA|GO:2000819;regulation of nucleotide-excision repair;IEA	GO:0005654;nucleoplasm;TAS|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL4A	https://www.uniprot.org/uniprot/Q13619		https://www.ncbi.nlm.nih.gov/omim/?term=603137	http://www.informatics.jax.org/searchtool/Search.do?query=CUL4A&submit=Quick%0D%7946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL4A	rs2287253	0.649161	0.7413	0	1	0	0	intronic	UTR5	intronic	CUL4A	CUL4A(uc010tjz.2:c.-2719G>A)	ENSG00000139842	Na	Na	Na	Na	Na	Na	Het;G>A	481;18|21	Hom;G>A	1430;0|52
N	N	-	13	113900197	113900197	G	A	snp	intronic	 	 	 	 	CUL4A	Cul4a	ENSG00000139842	cullin 4A	chr13:113862552-113919399	CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009]	longevity	Mice homozygous for one knock-out allele exhibit reduced female fertility, male infertility, impaired spermatogenesis, and impaired DNA repair.	Neddylation	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001701;in utero embryonic development;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030097;hemopoiesis;IEA|GO:0030853;negative regulation of granulocyte differentiation;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0042769;DNA damage response, detection of DNA damage;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051246;regulation of protein metabolic process;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000001;regulation of DNA damage checkpoint;IEA|GO:2000819;regulation of nucleotide-excision repair;IEA	GO:0005654;nucleoplasm;TAS|GO:0031461;cullin-RING ubiquitin ligase complex;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CUL4A	https://www.uniprot.org/uniprot/Q13619		https://www.ncbi.nlm.nih.gov/omim/?term=603137	http://www.informatics.jax.org/searchtool/Search.do?query=CUL4A&submit=Quick%0D%7946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL4A	rs2302756	0.707069	0	0	1	0	0	intronic	intronic	intronic	CUL4A	CUL4A	ENSG00000139842	Na	Na	Na	Na	Na	Na	Het;G>A	331;7|15	Hom;G>A	1080;0|40
N	N	-	13	114057712	114057712	G	A	snp	nonsynonymous SNV	C4793T	T1598M	polar,hydrophilic,neutral	hydrophobic,neutral	LOC101928841																		rs9603837	0.544529	0	0	1	0	0	exonic	intergenic	intergenic	LOC101928841	GRTP1(dist=39249),ADPRHL1(dist=18548)	ENSG00000139835(dist=39271),ENSG00000153531(dist=18548)	nonsynonymous SNV	Na	Na	LOC101928841:NM_001304433:exon2:c.C4793T:p.T1598M,	Na	Na	Het;G>A	1095;38|54	Hom;G>A	2142;0|82
N	N	-	13	114057822	114057822	G	A	snp	synonymous SNV	C4683T	P1561P	hydrophobic,neutral	hydrophobic,neutral	LOC101928841																		rs9604099	0.540535	0	0	1	0	0	exonic	intergenic	intergenic	LOC101928841	GRTP1(dist=39359),ADPRHL1(dist=18438)	ENSG00000139835(dist=39381),ENSG00000153531(dist=18438)	synonymous SNV	Na	Na	LOC101928841:NM_001304433:exon2:c.C4683T:p.P1561P,	Na	Na	Het;G>A	1045;43|46	Hom;G>A	2718;1|102
N	N	-	13	114058884	114058884	T	C	snp	synonymous SNV	A3621G	P1207P	hydrophobic,neutral	hydrophobic,neutral	LOC101928841																		rs7334623	0.55611	0	0	1	0	0	exonic	intergenic	intergenic	LOC101928841	GRTP1(dist=40421),ADPRHL1(dist=17376)	ENSG00000139835(dist=40443),ENSG00000153531(dist=17376)	synonymous SNV	Na	Na	LOC101928841:NM_001304433:exon2:c.A3621G:p.P1207P,	Na	Na	Het;T>C	3508;160|161	Hom;T>C	9806;3|359
N	N	-	13	114060985	114060985	C	CAAG	indel	nonframeshift substitution	1520_1520delinsCTTG	 	 	 	LOC101928841																		rs35896628	0.555112	0	0	1	0	0	exonic	intergenic	intergenic	LOC101928841	GRTP1(dist=42522),ADPRHL1(dist=15275)	ENSG00000139835(dist=42544),ENSG00000153531(dist=15275)	nonframeshift substitution	Na	Na	LOC101928841:NM_001304433:exon2:c.1520_1520delinsCTTG,	Na	Na	Het;+AAG	2222;62|56	Hom;+AAG	4890;1|108
N	N	-	13	114087997	114087997	T	C	snp	intronic	 	 	 	 	ADPRHL1	Adprhl1	ENSG00000153531	ADP-ribosylhydrolase like 1	chr13:114076260-114107839	ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]		 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0051725;protein de-ADP-ribosylation;IEA|GO:0090630;activation of GTPase activity;IBA	GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA	GO:0000287;magnesium ion binding;IEA|GO:0003875;ADP-ribosylarginine hydrolase activity;IEA|GO:0005096;GTPase activator activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0017137;Rab GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ADPRHL1	https://www.uniprot.org/uniprot/Q8NDY3		https://www.ncbi.nlm.nih.gov/omim/?term=610620	http://www.informatics.jax.org/searchtool/Search.do?query=ADPRHL1&submit=Quick%0D%9670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADPRHL1	rs12874568	0.326478	0	0	1	0	0	intronic	intronic	intronic	ADPRHL1	ADPRHL1	ENSG00000153531	Na	Na	Na	Na	Na	Na	Het;T>C	411;26|21	Hom;T>C	988;0|35
N	N	-	13	114088341	114088341	T	TG	indel	intronic	 	 	 	 	ADPRHL1	Adprhl1	ENSG00000153531	ADP-ribosylhydrolase like 1	chr13:114076260-114107839	ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]		 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0051725;protein de-ADP-ribosylation;IEA|GO:0090630;activation of GTPase activity;IBA	GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA	GO:0000287;magnesium ion binding;IEA|GO:0003875;ADP-ribosylarginine hydrolase activity;IEA|GO:0005096;GTPase activator activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0017137;Rab GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ADPRHL1	https://www.uniprot.org/uniprot/Q8NDY3		https://www.ncbi.nlm.nih.gov/omim/?term=610620	http://www.informatics.jax.org/searchtool/Search.do?query=ADPRHL1&submit=Quick%0D%9670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADPRHL1	rs59659705	0.313299	0	0	1	0	0	intronic	intronic	intronic	ADPRHL1	ADPRHL1	ENSG00000153531	Na	Na	Na	Na	Na	Na	Het;+G	57;6|3	Hom;+G	326;0|9
N	N	-	13	114112287	114112287	C	A	snp	UTR3	*57G>T	 	 	 	DCUN1D2	Dcun1d2	ENSG00000150401	defective in cullin neddylation 1 domain containing 2	chr13:114110134-114145267			 	Neddylation	GO:0045116;protein neddylation;IBA|GO:0051443;positive regulation of ubiquitin-protein transferase activity;IBA	GO:0000151;ubiquitin ligase complex;IBA	GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0032182;ubiquitin-like protein binding;IBA|GO:0097602;cullin family protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DCUN1D2	https://www.uniprot.org/uniprot/Q6PH85			http://www.informatics.jax.org/searchtool/Search.do?query=DCUN1D2&submit=Quick%0D%9314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCUN1D2	rs3814254	0.305911	0.2538	0	1	0	0	UTR3	UTR3	UTR3	DCUN1D2(NM_001014283:c.*57G>T)	DCUN1D2(uc001vtr.1:c.*57G>T,uc010agw.1:c.*57G>T)	ENSG00000150401(ENST00000332592:c.*57G>T,ENST00000375403:c.*428G>T,ENST00000478244:c.*57G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	215;11|11	Hom;C>A	521;0|19
N	N	-	13	114128382	114128382	G	A	snp	ncRNA_intronic	 	 	 	 	DCUN1D2-AS																		rs74378879	0.154153	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DCUN1D2	DCUN1D2	ENSG00000233613	Na	Na	Na	Na	Na	Na	Het;G>A	547;43|27	Hom;G>A	1139;0|42
N	N	-	13	114155965	114155965	G	A	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs2490958	0.436102	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;G>A	132;3|5	Hom;G>A	132;0|5
N	N	-	13	114175038	114175038	G	A	snp	nonsynonymous SNV	G1333A	A445T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs7319493	0.191693	0.1680	0.1816	0.08	1	13	exonic	exonic	exonic	TMCO3	TMCO3	ENSG00000150403	nonsynonymous SNV	nonsynonymous SNV	unknown	TMCO3:NM_017905:exon8:c.G1333A:p.A445T,	TMCO3:uc001vtt.4:exon8:c.G1333A:p.A445T,TMCO3:uc001vtu.4:exon8:c.G1333A:p.A445T,	UNKNOWN	Het;G>A	1860;116|92	Hom;G>A	3899;1|149
N	N	-	13	114175109	114175109	C	G	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs12430718	0.157149	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;C>G	816;30|30	Hom;C>G	1646;1|54
N	N	-	13	114188291	114188291	A	G	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs2260722	0.429513	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;A>G	144;8|5	Hom;A>G	914;0|23
N	N	-	13	114193525	114193525	A	C	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs2257451	0.469449	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;A>C	79;2|3	Hom;A>C	416;0|11
N	N	-	13	114201742	114201742	T	C	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs2259387	0.501797	0.4579	0.3860	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;T>C	570;32|25	Hom;T>C	722;0|27
N	N	-	13	114202532	114202532	T	C	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs12428641	0.175719	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;T>C	339;9|13	Hom;T>C	309;0|9
N	N	-	13	114202549	114202549	C	G	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs12431354	0.175319	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;C>G	504;12|18	Hom;C>G	723;0|22
N	N	-	13	114202560	114202560	G	A	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs12429311	0.156749	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;G>A	413;13|17	Hom;G>A	815;0|28
N	N	-	13	114202575	114202575	T	C	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs2259398	0.406749	0.3868	0.3471	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;T>C	499;18|21	Hom;T>C	1126;0|37
N	N	-	13	114202873	114202873	G	C	snp	intronic	 	 	 	 	TMCO3	Tmco3	ENSG00000150403	transmembrane and coiled-coil domains 3	chr13:114145310-114204542			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMCO3	https://www.uniprot.org/uniprot/Q6UWJ1		https://www.ncbi.nlm.nih.gov/omim/?term=617134	http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3	rs2259436	0.414736	0	0	1	0	0	intronic	intronic	intronic	TMCO3	TMCO3	ENSG00000150403	Na	Na	Na	Na	Na	Na	Het;G>C	95;10|5	Hom;G>C	513;0|18
N	N	-	13	114288971	114288971	C	T	snp	intronic	 	 	 	 	TFDP1	Tfdp1	ENSG00000198176	transcription factor Dp-1	chr13:114239013-114295785	This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]	ovarian cancer; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit reduced expansion of the ectoplacental cone and chorion, small yolk sacs, and impaired endoreduplication in trophoblast giant cells. Mutants die by embryonic day 12.5.	Activation of E2F1 target genes at G1/S	GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;IEA|GO:0043276;anoikis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0070345;negative regulation of fat cell proliferation;ISS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:2000278;regulation of DNA biosynthetic process;IEA	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TFDP1			https://www.ncbi.nlm.nih.gov/omim/?term=189902	http://www.informatics.jax.org/searchtool/Search.do?query=TFDP1&submit=Quick%0D%16838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TFDP1	rs4150792	0.529952	0.4904	0	1	0	0	intronic	intronic	intronic	TFDP1	TFDP1	ENSG00000198176	Na	Na	Na	Na	Na	Na	Het;C>T	425;29|23	Hom;C>T	2144;0|82
N	N	-	13	114586442	114586442	A	C	snp	ncRNA_exonic	 	 	 	 	LINC00454																		rs61966670	0.428115	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	GAS6-AS2(dist=16637),LINC00452(dist=11634)	LOC100506394(dist=16637),AK126042(dist=4832)	ENSG00000226921	Na	Na	Na	Na	Na	Na	Het;A>C	838;49|26	Hom;A>C	1425;2|56
N	N	-	13	114586452	114586452	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00454																		rs111764836	0.222843	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	GAS6-AS2(dist=16647),LINC00452(dist=11624)	LOC100506394(dist=16647),AK126042(dist=4822)	ENSG00000226921	Na	Na	Na	Na	Na	Na	Het;A>G	766;40|22	Hom;A>G	2341;0|52
N	N	-	13	114623880	114623880	G	A	snp	nonsynonymous SNV	G718A	V240M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	LINC00452																		rs7399982	0.804912	0	0.7454	1	0	0	exonic	ncRNA_exonic	ncRNA_exonic	LINC00452	AK126042,BC068105	ENSG00000229373	nonsynonymous SNV	Na	Na	LINC00452:NM_001278674:exon7:c.G718A:p.V240M,	Na	Na	Het;G>A	1211;67|58	Hom;G>A	3114;1|113
N	N	-	13	114773126	114773126	C	T	snp	intronic	 	 	 	 	RASA3	Rasa3	ENSG00000280477	RAS p21 protein activator 3	chr13:114747194-114898086	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump.	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA|GO:0051209;release of sequestered calcium ion into cytosol;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA3			https://www.ncbi.nlm.nih.gov/omim/?term=605182	http://www.informatics.jax.org/searchtool/Search.do?query=RASA3&submit=Quick%0D%22208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA3	rs9562086	0.567093	0.4985	0.4946	1	0	0	intronic	intronic	intronic	RASA3	RASA3	ENSG00000185989	Na	Na	Na	Na	Na	Na	Het;C>T	328;11|17	Hom;C>T	645;0|24
N	N	-	13	114774813	114774813	C	T	snp	intronic	 	 	 	 	RASA3	Rasa3	ENSG00000280477	RAS p21 protein activator 3	chr13:114747194-114898086	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump.	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA|GO:0051209;release of sequestered calcium ion into cytosol;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA3			https://www.ncbi.nlm.nih.gov/omim/?term=605182	http://www.informatics.jax.org/searchtool/Search.do?query=RASA3&submit=Quick%0D%22208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA3	rs6560943	0.717252	0.7044	0.6603	1	0	0	intronic	intronic	intronic	RASA3	RASA3	ENSG00000185989	Na	Na	Na	Na	Na	Na	Het;C>T	282;5|13	Hom;C>T	177;0|6
N	N	-	13	114778593	114778593	C	T	snp	intronic	 	 	 	 	RASA3	Rasa3	ENSG00000280477	RAS p21 protein activator 3	chr13:114747194-114898086	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump.	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA|GO:0051209;release of sequestered calcium ion into cytosol;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA3			https://www.ncbi.nlm.nih.gov/omim/?term=605182	http://www.informatics.jax.org/searchtool/Search.do?query=RASA3&submit=Quick%0D%22208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA3	rs7322518	0.628994	0.5474	0.5550	1	0	0	intronic	intronic	intronic	RASA3	RASA3	ENSG00000185989	Na	Na	Na	Na	Na	Na	Het;C>T	437;30|24	Hom;C>T	918;0|36
N	N	-	13	114780648	114780648	A	C	snp	intronic	 	 	 	 	RASA3	Rasa3	ENSG00000280477	RAS p21 protein activator 3	chr13:114747194-114898086	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump.	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA|GO:0051209;release of sequestered calcium ion into cytosol;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA3			https://www.ncbi.nlm.nih.gov/omim/?term=605182	http://www.informatics.jax.org/searchtool/Search.do?query=RASA3&submit=Quick%0D%22208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA3	rs2274719	0.725839	0.7083	0.6621	1	0	0	intronic	intronic	intronic	RASA3	RASA3	ENSG00000185989	Na	Na	Na	Na	Na	Na	Het;A>C	1229;53|55	Hom;A>C	2663;0|77
N	N	-	13	114780764	114780764	A	G	snp	synonymous SNV	T1230C	T410T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RASA3	Rasa3	ENSG00000280477	RAS p21 protein activator 3	chr13:114747194-114898086	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump.	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA|GO:0051209;release of sequestered calcium ion into cytosol;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA3			https://www.ncbi.nlm.nih.gov/omim/?term=605182	http://www.informatics.jax.org/searchtool/Search.do?query=RASA3&submit=Quick%0D%22208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA3	rs2274717	0.725839	0.7098	0.6624	1	0	0	exonic	exonic	exonic	RASA3	RASA3	ENSG00000185989	synonymous SNV	synonymous SNV	unknown	RASA3:NM_007368:exon14:c.T1326C:p.T442T,	RASA3:uc010tkk.2:exon14:c.T1230C:p.T410T,RASA3:uc001vuj.3:exon16:c.T177C:p.T59T,RASA3:uc001vui.3:exon14:c.T1326C:p.T442T,	UNKNOWN	Het;A>G	1675;101|78	Hom;A>G	4925;0|183
N	N	-	13	114787031	114787031	T	G	snp	intronic	 	 	 	 	RASA3	Rasa3	ENSG00000280477	RAS p21 protein activator 3	chr13:114747194-114898086	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump.	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA|GO:0051209;release of sequestered calcium ion into cytosol;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA3			https://www.ncbi.nlm.nih.gov/omim/?term=605182	http://www.informatics.jax.org/searchtool/Search.do?query=RASA3&submit=Quick%0D%22208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA3	rs2274713	0.725639	0.7092	0.6644	1	0	0	intronic	intronic	intronic	RASA3	RASA3	ENSG00000185989	Na	Na	Na	Na	Na	Na	Het;T>G	494;10|24	Hom;T>G	1203;0|41
N	N	-	13	114792842	114792842	C	T	snp	intronic	 	 	 	 	RASA3	Rasa3	ENSG00000280477	RAS p21 protein activator 3	chr13:114747194-114898086	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]		Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump.	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA|GO:0051209;release of sequestered calcium ion into cytosol;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA3			https://www.ncbi.nlm.nih.gov/omim/?term=605182	http://www.informatics.jax.org/searchtool/Search.do?query=RASA3&submit=Quick%0D%22208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA3	rs3829340	0.71905	0.7037	0.6618	1	0	0	intronic	intronic	intronic	RASA3	RASA3	ENSG00000185989	Na	Na	Na	Na	Na	Na	Het;C>T	645;50|33	Hom;C>T	2433;0|90
N	N	-	13	19194932	19194932	A	G	snp	intergenic	 	 	 	 	LINC00388																		rs2344078	0.376997	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00417(dist=117308)	NONE(dist=NONE),LINC00417(dist=117308)	ENSG00000229788(dist=9117),ENSG00000235876(dist=44443)	Na	Na	Na	Na	Na	Na	Het;A>G	825;30|41	Hom;A>G	2140;0|79
N	N	-	13	19415628	19415628	C	CA	indel	ncRNA_exonic	 	 	 	 	ANKRD20A9P																		rs149497427	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	ANKRD20A9P	ANKRD20A9P	ENSG00000206192	Na	Na	Na	Na	Na	Na	Het;+A	295;13|20	Hom;+A	446;5|24
N	N	-	13	19585929	19585929	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00442																		rs4770581	0.755791	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00442	LINC00442	ENSG00000232685	Na	Na	Na	Na	Na	Na	Het;C>A	2032;47|55	Hom;C>A	4343;0|103
N	N	-	13	19585954	19585954	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00442																		rs4769321	0.752196	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00442	LINC00442	ENSG00000232685	Na	Na	Na	Na	Na	Na	Het;A>G	2230;47|62	Hom;A>G	4557;0|108
N	N	-	13	19756073	19756073	T	C	snp	upstream	 	 	 	 	TUBA3C	Tuba3a	ENSG00000198033	tubulin alpha 3c	chr13:19747910-19755992	Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]	Calcium; Asthma	 	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBA3C	https://www.uniprot.org/uniprot/Q13748		https://www.ncbi.nlm.nih.gov/omim/?term=602528	http://www.informatics.jax.org/searchtool/Search.do?query=TUBA3C&submit=Quick%0D%16791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBA3C	rs2150224	0.288938	0	0	1	0	0	upstream	upstream	upstream	LOC101928697,TUBA3C	TUBA3C	ENSG00000121388,ENSG00000198033	Na	Na	Na	Na	Na	Na	Het;T>C	917;7|23	Hom;T>C	828;0|21
N	N	-	13	19919442	19919442	C	A	snp	ncRNA_intronic	 	 	 	 	LINC00421																		rs9554043	0.236222	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00421	LINC00421	ENSG00000236834	Na	Na	Na	Na	Na	Na	Het;C>A	86;3|5	Hom;C>A	519;0|18
N	N	-	13	19940714	19940714	T	G	snp	ncRNA_splicing	 	 	 	 	PARP4P2																		rs2812725	0.426318	0	0	1	0	0	intergenic	intergenic	ncRNA_splicing	LINC00421(dist=19825),TPTE2(dist=56305)	LINC00421(dist=19825),TPTE2(dist=56305)	ENSG00000224976(ENST00000446672:exon6:c.490-1T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	183;35|11	Hom;T>G	848;0|26
N	N	-	13	19940736	19940736	C	A	snp	ncRNA_exonic	 	 	 	 	PARP4P2																		rs2785518	0.382987	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00421(dist=19847),TPTE2(dist=56283)	LINC00421(dist=19847),TPTE2(dist=56283)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;C>A	466;45|15	Hom;C>A	1647;0|37
N	N	-	13	19940738	19940738	T	C	snp	ncRNA_exonic	 	 	 	 	PARP4P2																		rs2812724	0.384585	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00421(dist=19849),TPTE2(dist=56281)	LINC00421(dist=19849),TPTE2(dist=56281)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;T>C	466;45|15	Hom;T>C	1647;0|38
N	N	-	13	19940788	19940788	A	G	snp	ncRNA_exonic	 	 	 	 	PARP4P2																		rs2999214	0.385184	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00421(dist=19899),TPTE2(dist=56231)	LINC00421(dist=19899),TPTE2(dist=56231)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;A>G	291;45|18	Hom;A>G	1581;0|61
N	N	-	13	19943770	19943770	A	G	snp	ncRNA_exonic	 	 	 	 	PARP4P2																		rs4112696	0.385783	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00421(dist=22881),TPTE2(dist=53249)	LINC00421(dist=22881),TPTE2(dist=53249)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;A>G	396;17|20	Hom;A>G	906;0|32
N	N	-	13	19948982	19948982	G	A	snp	ncRNA_intronic	 	 	 	 	PARP4P2																		rs9554149	0.310903	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00421(dist=28093),TPTE2(dist=48037)	LINC00421(dist=28093),TPTE2(dist=48037)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;G>A	74;1|4	Hom;G>A	203;0|7
N	N	-	13	19950465	19950465	C	T	snp	ncRNA_intronic	 	 	 	 	PARP4P2																		rs9554153	0.336262	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00421(dist=29576),TPTE2(dist=46554)	LINC00421(dist=29576),TPTE2(dist=46554)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;C>T	477;14|14	Hom;C>T	866;0|19
N	N	-	13	19950468	19950468	G	A	snp	ncRNA_intronic	 	 	 	 	PARP4P2																		rs9554154	0.178514	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00421(dist=29579),TPTE2(dist=46551)	LINC00421(dist=29579),TPTE2(dist=46551)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;G>A	483;11|12	Hom;G>A	866;0|21
N	N	-	13	19952959	19952959	G	T	snp	ncRNA_intronic	 	 	 	 	PARP4P2																		rs9551398	0.336062	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00421(dist=32070),TPTE2(dist=44060)	LINC00421(dist=32070),TPTE2(dist=44060)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;G>T	109;8|7	Hom;G>T	373;2|15
N	N	-	13	19953049	19953049	C	T	snp	ncRNA_exonic	 	 	 	 	PARP4P2																		rs7324700	0.335463	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00421(dist=32160),TPTE2(dist=43970)	LINC00421(dist=32160),TPTE2(dist=43970)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;C>T	272;24|16	Hom;C>T	1065;1|41
N	N	-	13	19962045	19962045	G	A	snp	ncRNA_intronic	 	 	 	 	PARP4P2																		rs71306166	0.215256	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00421(dist=41156),TPTE2(dist=34974)	LINC00421(dist=41156),TPTE2(dist=34974)	ENSG00000224976	Na	Na	Na	Na	Na	Na	Het;G>A	614;28|32	Hom;G>A	1252;0|47
N	N	-	13	19999841	19999841	C	A	snp	intronic	 	 	 	 	TPTE2	Tpte	ENSG00000132958	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	chr13:19997017-20110903	TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]	Carcinoma, Hepatocellular|Liver carcinoma|Liver Cirrhosis|Liver neoplasms; Tobacco Use Disorder	Homozygous null mice are overtly normal and maintain normal lymphopoiesis.	Synthesis of PIPs at the Golgi membrane	GO:0006470;protein dephosphorylation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0051800;phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TPTE2	https://www.uniprot.org/uniprot/Q6XPS3		https://www.ncbi.nlm.nih.gov/omim/?term=606791	http://www.informatics.jax.org/searchtool/Search.do?query=TPTE2&submit=Quick%0D%6770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPTE2	rs2497210	0	0	0.8468	1	0	0	intronic	intronic	intronic	TPTE2	TPTE2	ENSG00000132958	Na	Na	Na	Na	Na	Na	Het;C>A	1247;12|54	Hom;C>A	890;2|33
N	N	-	13	19999954	19999954	T	TGCGAA	indel	unknown	 	 	 	 	TPTE2	Tpte	ENSG00000132958	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	chr13:19997017-20110903	TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]	Carcinoma, Hepatocellular|Liver carcinoma|Liver Cirrhosis|Liver neoplasms; Tobacco Use Disorder	Homozygous null mice are overtly normal and maintain normal lymphopoiesis.	Synthesis of PIPs at the Golgi membrane	GO:0006470;protein dephosphorylation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0051800;phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TPTE2	https://www.uniprot.org/uniprot/Q6XPS3		https://www.ncbi.nlm.nih.gov/omim/?term=606791	http://www.informatics.jax.org/searchtool/Search.do?query=TPTE2&submit=Quick%0D%6770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPTE2	rs200353856	0.409345	0.3074	0.1502	1	0	0	intronic	intronic	exonic	TPTE2	TPTE2	ENSG00000132958	Na	Na	unknown	Na	Na	UNKNOWN	Het;+GCGAA	1079;30|29	Hom;+GCGAA	1487;0|34
N	N	-	13	20633834	20633835	TC	T	indel	intronic	 	 	 	 	ZMYM2	Zmym2	ENSG00000121741	zinc finger MYM-type containing 2	chr13:20532810-20665968	The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]	Tobacco Use Disorder	Mice homozygous for an ENU-induced mutation exhibit prenatal lethality.	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IBA|GO:0007275;multicellular organism development;IBA|GO:0008150;biological_process;ND|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0022604;regulation of cell morphogenesis;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016605;PML body;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IBA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0031624;ubiquitin conjugating enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMYM2	https://www.uniprot.org/uniprot/Q9UBW7		https://www.ncbi.nlm.nih.gov/omim/?term=602221	http://www.informatics.jax.org/searchtool/Search.do?query=ZMYM2&submit=Quick%0D%5339ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYM2	rs10706049	0.817492	0	0	1	0	0	intronic	intronic	intronic	ZMYM2	ZMYM2	ENSG00000121741	Na	Na	Na	Na	Na	Na	Het;-C	82;10|7	Hom;-C	475;0|15
N	N	-	13	20656138	20656139	CT	C	indel	intronic	 	 	 	 	ZMYM2	Zmym2	ENSG00000121741	zinc finger MYM-type containing 2	chr13:20532810-20665968	The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]	Tobacco Use Disorder	Mice homozygous for an ENU-induced mutation exhibit prenatal lethality.	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IBA|GO:0007275;multicellular organism development;IBA|GO:0008150;biological_process;ND|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0022604;regulation of cell morphogenesis;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016605;PML body;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IBA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0031624;ubiquitin conjugating enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMYM2	https://www.uniprot.org/uniprot/Q9UBW7		https://www.ncbi.nlm.nih.gov/omim/?term=602221	http://www.informatics.jax.org/searchtool/Search.do?query=ZMYM2&submit=Quick%0D%5339ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYM2	rs11344087	0.732029	0	0.6753	1	0	0	intronic	intronic	intronic	ZMYM2	ZMYM2	ENSG00000121741	Na	Na	Na	Na	Na	Na	Het;-T	520;32|34	Hom;-T	801;4|42
N	N	-	13	20657188	20657188	T	G	snp	intronic	 	 	 	 	ZMYM2	Zmym2	ENSG00000121741	zinc finger MYM-type containing 2	chr13:20532810-20665968	The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]	Tobacco Use Disorder	Mice homozygous for an ENU-induced mutation exhibit prenatal lethality.	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IBA|GO:0007275;multicellular organism development;IBA|GO:0008150;biological_process;ND|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0022604;regulation of cell morphogenesis;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016605;PML body;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IBA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0031624;ubiquitin conjugating enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMYM2	https://www.uniprot.org/uniprot/Q9UBW7		https://www.ncbi.nlm.nih.gov/omim/?term=602221	http://www.informatics.jax.org/searchtool/Search.do?query=ZMYM2&submit=Quick%0D%5339ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYM2	rs9509028	0.626597	0.6873	0.8070	1	0	0	intronic	intronic	intronic	ZMYM2	ZMYM2	ENSG00000121741	Na	Na	Na	Na	Na	Na	Het;T>G	671;55|33	Hom;T>G	3549;0|122
N	N	-	13	20676866	20676866	T	G	snp	ncRNA_exonic	 	 	 	 	LINC01072																		rs2312968	0.380791	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01072	ZMYM2(dist=10898),GJA3(dist=35529)	ENSG00000236076	Na	Na	Na	Na	Na	Na	Het;T>G	1483;110|77	Hom;T>G	3804;0|142
N	N	-	13	20978504	20978504	C	T	snp	intronic	 	 	 	 	CRYL1	Cryl1	ENSG00000165475	crystallin lambda 1	chr13:20977806-21099996	The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]	Body Height	 	Catabolism of glucuronate to xylulose-5-phosphate	GO:0006631;fatty acid metabolic process;IEA|GO:0019640;glucuronate catabolic process to xylulose 5-phosphate;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003857;3-hydroxyacyl-CoA dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0050104;L-gulonate 3-dehydrogenase activity;EXP|GO:0070403;NAD+ binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CRYL1			https://www.ncbi.nlm.nih.gov/omim/?term=609877	http://www.informatics.jax.org/searchtool/Search.do?query=CRYL1&submit=Quick%0D%11545ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYL1	rs4638418	0.680312	0	0	1	0	0	intronic	intronic	intronic	CRYL1	CRYL1	ENSG00000165475	Na	Na	Na	Na	Na	Na	Het;C>T	68;2|3	Hom;C>T	137;0|5
N	N	-	13	21170193	21170193	G	GTAAAA	indel	intronic	 	 	 	 	IFT88	Ift88	ENSG00000032742	intraflagellar transport 88	chr13:21140585-21265503	This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Depressive Disorder	Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia.	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0060271;cilium assembly;ISS|GO:1902017;regulation of cilium assembly;ISS|GO:2000785;regulation of autophagosome assembly;ISS	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;ISS|GO:0031514;motile cilium;ISS|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFT88	https://www.uniprot.org/uniprot/Q13099	https://hpo.jax.org/app/browse/search?q=IFT88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600595	http://www.informatics.jax.org/searchtool/Search.do?query=IFT88&submit=Quick%0D%749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT88	rs149283826	0	0	0	1	0	0	intronic	intronic	intronic	IFT88	IFT88	ENSG00000032742	Na	Na	Na	Na	Na	Na	Het;+TAAAA	296;1|8	Hom;+TAAAA	233;0|6
N	N	-	13	21512850	21512850	G	A	snp	ncRNA_intronic	 	 	 	 	LINC00367																		rs11619673	0.495607	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC00367	XPO4(dist=35937),LATS2(dist=34326)	ENSG00000233780	Na	Na	Na	Na	Na	Na	Het;G>A	102;6|6	Hom;G>A	376;0|15
N	N	-	13	21516842	21516842	C	A	snp	ncRNA_intronic	 	 	 	 	LINC00367																		rs2314723	0.493211	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC00367	XPO4(dist=39929),LATS2(dist=30334)	ENSG00000233780	Na	Na	Na	Na	Na	Na	Het;C>A	165;5|7	Hom;C>A	348;0|12
N	N	-	13	21535586	21535586	A	G	snp	ncRNA_exonic	 	 	 	 	RPSAP54																		rs9509472	0.484225	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00367(dist=12019),LATS2(dist=11590)	XPO4(dist=58673),LATS2(dist=11590)	ENSG00000213621	Na	Na	Na	Na	Na	Na	Het;A>G	908;35|44	Hom;A>G	2633;0|94
N	N	-	13	21535837	21535837	T	G	snp	ncRNA_exonic	 	 	 	 	RPSAP54																		rs9316041	0.476038	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00367(dist=12270),LATS2(dist=11339)	XPO4(dist=58924),LATS2(dist=11339)	ENSG00000213621	Na	Na	Na	Na	Na	Na	Het;T>G	816;40|38	Hom;T>G	1416;0|52
N	N	-	13	21592528	21592528	G	GC	indel	intronic	 	 	 	 	LATS2	Lats2	ENSG00000150457	large tumor suppressor kinase 2	chr13:21547171-21635686	This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]	breast cancer; Tobacco Use Disorder	Homozygous null mice display embryonic lethality with decreased cell proliferation, chromosomal instability, atrial hyperplasia, ventricular hypoplasia, delayed embryonic development, an irregular kinked neural tube, and hemorrhages.	Signaling by Hippo	GO:0000082;G1/S transition of mitotic cell cycle;IDA|GO:0001827;inner cell mass cell fate commitment;IEA|GO:0001828;inner cell mass cellular morphogenesis;IEA|GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0009755;hormone-mediated signaling pathway;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030216;keratinocyte differentiation;IEA|GO:0034613;cellular protein localization;IEA|GO:0035329;hippo signaling;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0043065;positive regulation of apoptotic process;IBA|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0046620;regulation of organ growth;IBA|GO:0051301;cell division;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP	GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LATS2	https://www.uniprot.org/uniprot/Q9NRM7		https://www.ncbi.nlm.nih.gov/omim/?term=604861	http://www.informatics.jax.org/searchtool/Search.do?query=LATS2&submit=Quick%0D%9319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LATS2	rs34758723	0.491414	0	0	1	0	0	intronic	intronic	intronic	LATS2	LATS2	ENSG00000150457	Na	Na	Na	Na	Na	Na	Het;+C	97;5|4	Hom;+C	125;0|4
N	N	-	13	21677331	21677331	T	C	snp	ncRNA_exonic	 	 	 	 	IPPKP1																		rs7332616	0.198682	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LATS2(dist=41609),SAP18(dist=37322)	LATS2(dist=41609),SAP18(dist=37322)	ENSG00000225585	Na	Na	Na	Na	Na	Na	Het;T>C	376;21|18	Hom;T>C	648;0|25
N	N	-	13	21729952	21729952	T	TA	indel	splicing	1120-2A>TA	 	 	 	SKA3	Ska3	ENSG00000165480	spindle and kinetochore associated complex subunit 3	chr13:21727734-21750741	This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]		 		GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IDA|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000940;condensed chromosome outer kinetochore;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005876;spindle microtubule;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SKA3				http://www.informatics.jax.org/searchtool/Search.do?query=SKA3&submit=Quick%0D%11548ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SKA3	rs11446085	0.289137	0	0	1	0	0	splicing	splicing	splicing	SKA3(NM_145061:exon8:c.1120-2A>TA)	SKA3(uc001unt.3:exon8:c.1120-2A>TA,uc001unv.3:exon7:c.874-2A>TA)	ENSG00000165480(ENST00000314759:exon8:c.1120-2A>TA,ENST00000298260:exon7:c.1058-2A>TA,ENST00000462482:exon2:c.104-2A>TA)	Na	Na	Na	Na	Na	Na	Het;+A	341;38|23	Hom;+A	1082;3|48
N	N	-	13	22552329	22552329	T	C	snp	intergenic	 	 	 	 	LINC00424																		rs6490689	0.648163	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00424(dist=100030),LINC00540(dist=232095)	LINC00424(dist=100030),AK054845(dist=62785)	ENSG00000226722(dist=102624),ENSG00000237175(dist=120973)	Na	Na	Na	Na	Na	Na	Het;T>C	2178;108|106	Hom;T>C	4673;0|171
N	N	-	13	22849324	22849324	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00540																		rs9316867	0.88119	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LINC00540	AK054845,BC035104	ENSG00000226118(dist=161847),ENSG00000232187(dist=420838)	Na	Na	Na	Na	Na	Na	Het;C>T	1634;119|77	Hom;C>T	5142;0|184
N	N	-	13	23471829	23471829	C	G	snp	ncRNA_exonic	 	 	 	 	BASP1P1																		rs932936	0.482827	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	BASP1P1	BASP1P1	ENSG00000230535	Na	Na	Na	Na	Na	Na	Het;C>G	1394;68|63	Hom;C>G	3414;0|121
N	N	-	13	23472268	23472268	T	C	snp	ncRNA_exonic	 	 	 	 	BASP1P1																		rs7328194	0.676917	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	BASP1P1	BASP1P1	ENSG00000262619	Na	Na	Na	Na	Na	Na	Het;T>C	400;24|21	Hom;T>C	1811;0|65
N	N	-	13	23490396	23490396	C	T	snp	ncRNA_exonic	 	 	 	 	NUS1P2																		rs9506966	0.527955	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BASP1P1(dist=18076),SGCG(dist=264664)	BASP1P1(dist=18076),SGCG(dist=264664)	ENSG00000234685,ENSG00000262619	Na	Na	Na	Na	Na	Na	Het;C>T	2097;141|106	Hom;C>T	5221;0|191
N	N	-	13	23498464	23498464	T	C	snp	ncRNA_exonic	 	 	 	 	AL157931.1																		rs1831456	0.56869	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BASP1P1(dist=26144),SGCG(dist=256596)	BASP1P1(dist=26144),SGCG(dist=256596)	ENSG00000262198	Na	Na	Na	Na	Na	Na	Het;T>C	75;6|4	Hom;T>C	593;0|18
N	N	-	13	23755127	23755127	G	A	snp	UTR5	-22707G>A	 	 	 	SGCG	Sgcg	ENSG00000102683	sarcoglycan gamma	chr13:23755091-23899304	This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]	dystonia; Neuroblastoma; Leukocyte Count; Coronary Disease; Alcoholism; Tobacco Use Disorder	Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy.		GO:0007517;muscle organ development;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;IBA|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;IBA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016011;dystroglycan complex;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGCG	https://www.uniprot.org/uniprot/Q13326	https://hpo.jax.org/app/browse/search?q=SGCG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608896	http://www.informatics.jax.org/searchtool/Search.do?query=SGCG&submit=Quick%0D%2899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCG	rs4770403	0.1252	0	0	1	0	0	UTR5	UTR5	UTR5	SGCG(NM_000231:c.-22707G>A)	SGCG(uc001uom.2:c.-22707G>A,uc009zzv.2:c.-22707G>A,uc009zzw.2:c.-22707G>A)	ENSG00000102683(ENST00000218867:c.-22707G>A,ENST00000537476:c.-22707G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	710;22|34	Hom;G>A	1936;0|74
N	N	-	13	23898509	23898509	T	C	snp	synonymous SNV	T705C	L235L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SGCG	Sgcg	ENSG00000102683	sarcoglycan gamma	chr13:23755091-23899304	This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]	dystonia; Neuroblastoma; Leukocyte Count; Coronary Disease; Alcoholism; Tobacco Use Disorder	Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy.		GO:0007517;muscle organ development;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;IBA|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;IBA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016011;dystroglycan complex;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGCG	https://www.uniprot.org/uniprot/Q13326	https://hpo.jax.org/app/browse/search?q=SGCG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608896	http://www.informatics.jax.org/searchtool/Search.do?query=SGCG&submit=Quick%0D%2899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCG	rs1800353	0.629792	0.5762	0.6744	1	0	0	exonic	exonic	exonic	SGCG	SGCG	ENSG00000102683	synonymous SNV	synonymous SNV	unknown	SGCG:NM_000231:exon8:c.T705C:p.L235L,	SGCG:uc001uom.2:exon8:c.T705C:p.L235L,SGCG:uc009zzw.2:exon9:c.T705C:p.L235L,SGCG:uc009zzv.2:exon9:c.T705C:p.L235L,	UNKNOWN	Het;T>C	643;23|28	Hom;T>C	1745;0|57
N	N	-	13	23905711	23905711	A	G	snp	synonymous SNV	T11863C	L3955L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SACS	Sacs	ENSG00000151835	sacsin molecular chaperone	chr13:23902965-24007841	This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]	Interleukin-12; protein quantitative trait loci; Hemoglobin A, Glycosylated; Hypothyroidism; Nasopharyngeal Neoplasms	Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction.		GO:0006457;protein folding;NAS|GO:0090084;negative regulation of inclusion body assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0030424;axon;TAS|GO:0030425;dendrite;TAS|GO:0070852;cell body fiber;TAS	GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0070628;proteasome binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SACS	https://www.uniprot.org/uniprot/Q9NZJ4	https://hpo.jax.org/app/browse/search?q=SACS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604490	http://www.informatics.jax.org/searchtool/Search.do?query=SACS&submit=Quick%0D%9477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SACS	rs2737699	0.258387	0.2046	0.2780	1	0	0	exonic	exonic	exonic	SACS	SACS	ENSG00000151835	synonymous SNV	synonymous SNV	unknown	SACS:NM_001278055:exon8:c.T11863C:p.L3955L,SACS:NM_014363:exon10:c.T12304C:p.L4102L,	SACS:uc001uoo.3:exon8:c.T11863C:p.L3955L,SACS:uc001uon.3:exon10:c.T12304C:p.L4102L,	UNKNOWN	Het;A>G	2104;81|92	Hom;A>G	4688;2|158
N	N	-	13	23907909	23907909	A	G	snp	nonsynonymous SNV	T9665C	V3222A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SACS	Sacs	ENSG00000151835	sacsin molecular chaperone	chr13:23902965-24007841	This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]	Interleukin-12; protein quantitative trait loci; Hemoglobin A, Glycosylated; Hypothyroidism; Nasopharyngeal Neoplasms	Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction.		GO:0006457;protein folding;NAS|GO:0090084;negative regulation of inclusion body assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0030424;axon;TAS|GO:0030425;dendrite;TAS|GO:0070852;cell body fiber;TAS	GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0070628;proteasome binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SACS	https://www.uniprot.org/uniprot/Q9NZJ4	https://hpo.jax.org/app/browse/search?q=SACS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604490	http://www.informatics.jax.org/searchtool/Search.do?query=SACS&submit=Quick%0D%9477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SACS	rs17078605	0.258986	0.2046	0.2778	0.62	8	13	exonic	exonic	exonic	SACS	SACS	ENSG00000151835	nonsynonymous SNV	nonsynonymous SNV	unknown	SACS:NM_001278055:exon8:c.T9665C:p.V3222A,SACS:NM_014363:exon10:c.T10106C:p.V3369A,	SACS:uc001uoo.3:exon8:c.T9665C:p.V3222A,SACS:uc001uon.3:exon10:c.T10106C:p.V3369A,	UNKNOWN	Het;A>G	1270;80|58	Hom;A>G	3536;0|123
N	N	-	13	23909162	23909162	A	G	snp	synonymous SNV	T8412C	V2804V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SACS	Sacs	ENSG00000151835	sacsin molecular chaperone	chr13:23902965-24007841	This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]	Interleukin-12; protein quantitative trait loci; Hemoglobin A, Glycosylated; Hypothyroidism; Nasopharyngeal Neoplasms	Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction.		GO:0006457;protein folding;NAS|GO:0090084;negative regulation of inclusion body assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0030424;axon;TAS|GO:0030425;dendrite;TAS|GO:0070852;cell body fiber;TAS	GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0070628;proteasome binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SACS	https://www.uniprot.org/uniprot/Q9NZJ4	https://hpo.jax.org/app/browse/search?q=SACS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604490	http://www.informatics.jax.org/searchtool/Search.do?query=SACS&submit=Quick%0D%9477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SACS	rs9552929	0.259185	0.2048	0.2780	1	0	0	exonic	exonic	exonic	SACS	SACS	ENSG00000151835	synonymous SNV	synonymous SNV	unknown	SACS:NM_001278055:exon8:c.T8412C:p.V2804V,SACS:NM_014363:exon10:c.T8853C:p.V2951V,	SACS:uc001uoo.3:exon8:c.T8412C:p.V2804V,SACS:uc001uon.3:exon10:c.T8853C:p.V2951V,	UNKNOWN	Het;A>G	2268;103|110	Hom;A>G	5648;0|211
N	N	-	13	23911820	23911820	A	G	snp	synonymous SNV	T5754C	I1918I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SACS	Sacs	ENSG00000151835	sacsin molecular chaperone	chr13:23902965-24007841	This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]	Interleukin-12; protein quantitative trait loci; Hemoglobin A, Glycosylated; Hypothyroidism; Nasopharyngeal Neoplasms	Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction.		GO:0006457;protein folding;NAS|GO:0090084;negative regulation of inclusion body assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0030424;axon;TAS|GO:0030425;dendrite;TAS|GO:0070852;cell body fiber;TAS	GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0070628;proteasome binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SACS	https://www.uniprot.org/uniprot/Q9NZJ4	https://hpo.jax.org/app/browse/search?q=SACS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604490	http://www.informatics.jax.org/searchtool/Search.do?query=SACS&submit=Quick%0D%9477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SACS	rs4143768	0.259984	0.2035	0.2809	1	0	0	exonic	exonic	exonic	SACS	SACS	ENSG00000151835	synonymous SNV	synonymous SNV	unknown	SACS:NM_001278055:exon8:c.T5754C:p.I1918I,SACS:NM_014363:exon10:c.T6195C:p.I2065I,	SACS:uc001uoo.3:exon8:c.T5754C:p.I1918I,SACS:uc001uon.3:exon10:c.T6195C:p.I2065I,	UNKNOWN	Het;A>G	1258;50|55	Hom;A>G	2243;0|79
N	N	-	13	24001362	24001362	T	C	snp	ncRNA_exonic	 	 	 	 	SACS-AS1																		rs4083575	0.745807	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SACS-AS1	SACS-AS1	ENSG00000229558	Na	Na	Na	Na	Na	Na	Het;T>C	1208;70|54	Hom;T>C	3818;0|135
N	N	-	13	24520961	24520961	A	G	snp	ncRNA_exonic	 	 	 	 	ANKRD20A19P																		rs2765110	0.493211	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	ANKRD20A19P	ANKRD20A19P	ENSG00000196593	Na	Na	Na	Na	Na	Na	Het;A>G	734;25|29	Hom;A>G	2417;1|79
N	N	-	13	24521387	24521387	C	G	snp	ncRNA_exonic	 	 	 	 	ANKRD20A19P																		rs2765112	0.535743	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	ANKRD20A19P	ANKRD20A19P	ENSG00000196593	Na	Na	Na	Na	Na	Na	Het;C>G	341;8|12	Hom;C>G	529;0|14
N	N	-	13	24591679	24591679	A	G	snp	ncRNA_intronic	 	 	 	 	BC043582																		rs4770549	0.31889	0	0	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	SPATA13	BC043582	ENSG00000228741	Na	Na	Na	Na	Na	Na	Het;A>G	73;5|3	Hom;A>G	402;0|10
N	N	-	13	24826051	24826051	C	T	snp	intronic	 	 	 	 	SPATA13	Spata13	ENSG00000182957	spermatogenesis associated 13	chr13:24553944-24881212		Stroke; Hemoglobin A, Glycosylated; Brain Ischemia|Stroke; Respiratory Function Tests	Mice homozygous for a knock-out allele are viable, fertile and overtly normal.  Behavioral tests indicate that mutant mice exhibit submissive social hierarchy behavior and females exhibit increased voluntary activity in the dark phase of the light-dark cycle.		GO:0016477;cell migration;IMP|GO:0030032;lamellipodium assembly;IMP|GO:0030334;regulation of cell migration;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046847;filopodium assembly;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPATA13			https://www.ncbi.nlm.nih.gov/omim/?term=613324	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA13&submit=Quick%0D%14889ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA13	rs2793491	0.278554	0.2731	0.2345	1	0	0	intronic	intronic	intronic	SPATA13	SPATA13	ENSG00000182957,ENSG00000273167	Na	Na	Na	Na	Na	Na	Het;C>T	1065;34|52	Hom;C>T	2426;1|88
N	N	-	13	24894978	24894978	T	C	snp	ncRNA_intronic	 	 	 	 	C1QTNF9-AS1																		rs12857801	0.64397	0	0	1	0	0	intronic	intronic	ncRNA_intronic	C1QTNF9	C1QTNF9	ENSG00000240868	Na	Na	Na	Na	Na	Na	Het;T>C	36;2|2	Hom;T>C	246;0|7
N	N	-	13	24895559	24895559	A	G	snp	nonsynonymous SNV	A655G	M219V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	C1QTNF9		ENSG00000240654	C1q and TNF related 9	chr13:24881304-24896673			Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis.			GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA	GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF9			https://www.ncbi.nlm.nih.gov/omim/?term=614285	http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF9&submit=Quick%0D%19628ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF9	rs3751357	0	0	0.7473	0.15	2	13	exonic	exonic	exonic	C1QTNF9	C1QTNF9	ENSG00000205850,ENSG00000240654	nonsynonymous SNV	nonsynonymous SNV	unknown	C1QTNF9:NM_178540:exon4:c.A655G:p.M219V,C1QTNF9:NM_001303137:exon5:c.A655G:p.M219V,C1QTNF9:NM_001303138:exon4:c.A655G:p.M219V,	C1QTNF9:uc001upj.3:exon4:c.A655G:p.M219V,	UNKNOWN	Het;A>G	2066;124|100	Hom;A>G	4310;2|146
N	N	-	13	24895684	24895684	A	G	snp	synonymous SNV	A780G	R260R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	C1QTNF9		ENSG00000240654	C1q and TNF related 9	chr13:24881304-24896673			Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis.			GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA	GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF9			https://www.ncbi.nlm.nih.gov/omim/?term=614285	http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF9&submit=Quick%0D%19628ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF9	rs2862239	0.895767	0.8761	0.9253	1	0	0	exonic	exonic	exonic	C1QTNF9	C1QTNF9	ENSG00000240654	synonymous SNV	synonymous SNV	unknown	C1QTNF9:NM_178540:exon4:c.A780G:p.R260R,C1QTNF9:NM_001303137:exon5:c.A780G:p.R260R,C1QTNF9:NM_001303138:exon4:c.A780G:p.R260R,	C1QTNF9:uc001upj.3:exon4:c.A780G:p.R260R,	UNKNOWN	Het;A>G	3057;120|131	Hom;A>G	7072;0|249
N	N	-	13	25021245	25021245	A	G	snp	nonsynonymous SNV	T3194C	V1065A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PARP4	Parp4	ENSG00000102699	poly(ADP-ribose) polymerase family member 4	chr13:24995064-25086948	This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]	lung cancer; head and neck cancer; Death, Sudden, Cardiac; Tobacco Use Disorder; Colorectal Neoplasms; Parkinson Disease; melanoma; stomach cancer; bladder cancer; chronic obstructive pulmonary disease; lung cancer 	Homozygous null mutants are helathy and fertile.	Nicotinamide salvaging	GO:0006281;DNA repair;NAS|GO:0006464;cellular protein modification process;IDA|GO:0006471;protein ADP-ribosylation;NAS|GO:0006810;transport;NAS|GO:0006954;inflammatory response;IMP|GO:0006974;cellular response to DNA damage stimulus;NAS|GO:0008219;cell death;IMP|GO:0042493;response to drug;NAS|GO:0051972;regulation of telomerase activity;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003677;DNA binding;TAS|GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019899;enzyme binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PARP4	https://www.uniprot.org/uniprot/Q9UKK3		https://www.ncbi.nlm.nih.gov/omim/?term=607519	http://www.informatics.jax.org/searchtool/Search.do?query=PARP4&submit=Quick%0D%2900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP4	rs7334587	0	0	0.5921	0.08	1	13	exonic	exonic	exonic	PARP4	PARP4	ENSG00000102699	nonsynonymous SNV	nonsynonymous SNV	unknown	PARP4:NM_006437:exon26:c.T3194C:p.V1065A,	PARP4:uc001upl.3:exon26:c.T3194C:p.V1065A,	UNKNOWN	Het;A>G	2640;15|112	Hom;A>G	3108;2|118
N	N	-	13	25268848	25268848	A	G	snp	intronic	 	 	 	 	ATP12A	Atp12a	ENSG00000075673	ATPase H+/K+ transporting non-gastric alpha2 subunit	chr13:25254549-25285921	The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Respiratory Function Tests; Cholesterol	Homozygous mutation of this gene results in increased potassium excretion. When placed on a potassium-free diet, mutant animals display greater weight loss and slightly increased kidney weight compared to wild-type.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006885;regulation of pH;IEA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015992;proton transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055075;potassium ion homeostasis;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005889;hydrogen:potassium-exchanging ATPase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005391;sodium:potassium-exchanging ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008900;hydrogen:potassium-exchanging ATPase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP12A	https://www.uniprot.org/uniprot/P54707		https://www.ncbi.nlm.nih.gov/omim/?term=182360	http://www.informatics.jax.org/searchtool/Search.do?query=ATP12A&submit=Quick%0D%1558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP12A	rs2289899	0.614417	0	0	1	0	0	intronic	intronic	intronic	ATP12A	ATP12A	ENSG00000075673	Na	Na	Na	Na	Na	Na	Het;A>G	288;10|10	Hom;A>G	772;0|25
N	N	-	13	25378476	25378476	A	G	snp	nonsynonymous SNV	A2000G	H667R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	RNF17	Rnf17	ENSG00000132972	ring finger protein 17	chr13:25338290-25454059	This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]	Hemoglobin A, Glycosylated; Diabetic Nephropathies	Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF17	https://www.uniprot.org/uniprot/Q9BXT8		https://www.ncbi.nlm.nih.gov/omim/?term=605793	http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17	rs9511451	0.21246	0.2341	0.2586	0.08	1	13	exonic	exonic	exonic	RNF17	RNF17	ENSG00000132972	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF17:NM_001184993:exon15:c.A2000G:p.H667R,RNF17:NM_031277:exon15:c.A2000G:p.H667R,	RNF17:uc001ups.3:exon15:c.A1817G:p.H606R,RNF17:uc010tde.2:exon15:c.A2000G:p.H667R,RNF17:uc010tdd.1:exon14:c.A1577G:p.H526R,RNF17:uc001upr.3:exon15:c.A2000G:p.H667R,	UNKNOWN	Het;A>G	1190;53|58	Hom;A>G	2550;0|96
N	N	-	13	25418996	25418996	T	G	snp	intronic	 	 	 	 	RNF17	Rnf17	ENSG00000132972	ring finger protein 17	chr13:25338290-25454059	This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]	Hemoglobin A, Glycosylated; Diabetic Nephropathies	Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF17	https://www.uniprot.org/uniprot/Q9BXT8		https://www.ncbi.nlm.nih.gov/omim/?term=605793	http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17	rs9511472	0.21226	0	0	1	0	0	intronic	intronic	intronic	RNF17	RNF17	ENSG00000132972	Na	Na	Na	Na	Na	Na	Het;T>G	1912;49|80	Hom;T>G	3731;0|123
N	N	-	13	25440318	25440318	G	A	snp	nonsynonymous SNV	G4126A	E1376K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	RNF17	Rnf17	ENSG00000132972	ring finger protein 17	chr13:25338290-25454059	This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]	Hemoglobin A, Glycosylated; Diabetic Nephropathies	Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF17	https://www.uniprot.org/uniprot/Q9BXT8		https://www.ncbi.nlm.nih.gov/omim/?term=605793	http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17	rs9507425	0.212061	0.2342	0.2523	0.31	4	13	exonic	exonic	exonic	RNF17	RNF17	ENSG00000132972	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF17:NM_001184993:exon30:c.G4126A:p.E1376K,RNF17:NM_031277:exon30:c.G4138A:p.E1380K,	RNF17:uc001ups.3:exon30:c.G3955A:p.E1319K,RNF17:uc010tde.2:exon30:c.G4126A:p.E1376K,RNF17:uc010aac.3:exon14:c.G1714A:p.E572K,RNF17:uc001upr.3:exon30:c.G4138A:p.E1380K,RNF17:uc010aad.3:exon10:c.G1168A:p.E390K,	UNKNOWN	Het;G>A	373;31|21	Hom;G>A	907;0|35
N	N	-	13	25444934	25444934	C	T	snp	intronic	 	 	 	 	RNF17	Rnf17	ENSG00000132972	ring finger protein 17	chr13:25338290-25454059	This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]	Hemoglobin A, Glycosylated; Diabetic Nephropathies	Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF17	https://www.uniprot.org/uniprot/Q9BXT8		https://www.ncbi.nlm.nih.gov/omim/?term=605793	http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17	rs2305368	0.211661	0	0	1	0	0	intronic	intronic	intronic	RNF17	RNF17	ENSG00000132972	Na	Na	Na	Na	Na	Na	Het;C>T	406;16|16	Hom;C>T	555;0|19
N	N	-	13	25448423	25448424	CT	C	indel	intronic	 	 	 	 	RNF17	Rnf17	ENSG00000132972	ring finger protein 17	chr13:25338290-25454059	This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]	Hemoglobin A, Glycosylated; Diabetic Nephropathies	Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF17	https://www.uniprot.org/uniprot/Q9BXT8		https://www.ncbi.nlm.nih.gov/omim/?term=605793	http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17	rs398077121	0.21226	0.2373	0.2676	1	0	0	intronic	intronic	intronic	RNF17	RNF17	ENSG00000132972	Na	Na	Na	Na	Na	Na	Het;-T	517;33|29	Hom;-T	1859;3|77
N	N	-	13	25451097	25451097	G	A	snp	intronic	 	 	 	 	RNF17	Rnf17	ENSG00000132972	ring finger protein 17	chr13:25338290-25454059	This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]	Hemoglobin A, Glycosylated; Diabetic Nephropathies	Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF17	https://www.uniprot.org/uniprot/Q9BXT8		https://www.ncbi.nlm.nih.gov/omim/?term=605793	http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17	rs9553460	0.210463	0.2340	0.2565	1	0	0	intronic	intronic	intronic	RNF17	RNF17	ENSG00000132972	Na	Na	Na	Na	Na	Na	Het;G>A	92;11|6	Hom;G>A	430;0|16
N	N	-	13	25457004	25457007	ACTT	A	indel	UTR3	*311_*308delinsT	 	 	 	CENPJ	Cenpj	ENSG00000151849	centromere protein J	chr13:25457171-25497018	This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]	Micrencephaly |Microcephaly	Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007020;microtubule nucleation;TAS|GO:0007099;centriole replication;IMP|GO:0007224;smoothened signaling pathway;IEA|GO:0044458;motile cilium assembly;IEA|GO:0046599;regulation of centriole replication;IMP|GO:0046785;microtubule polymerization;IMP|GO:0051298;centrosome duplication;IEA|GO:0051301;cell division;NAS|GO:0061511;centriole elongation;IDA|GO:0097711;ciliary basal body docking;TAS|GO:0098534;centriole assembly;IEA|GO:1902857;positive regulation of non-motile cilium assembly;IEA|GO:1903087;mitotic spindle pole body duplication;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0008275;gamma-tubulin small complex;NAS|GO:0036064;ciliary basal body;IEA	GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CENPJ	https://www.uniprot.org/uniprot/Q9HC77	https://hpo.jax.org/app/browse/search?q=CENPJ&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609279	http://www.informatics.jax.org/searchtool/Search.do?query=CENPJ&submit=Quick%0D%9480ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPJ	rs34780182	0.158746	0	0	1	0	0	UTR3	UTR3	downstream	CENPJ(NM_018451:c.*311_*308delinsT)	CENPJ(uc001upt.5:c.*311_*308delinsT)	ENSG00000151849	Na	Na	Na	Na	Na	Na	Het;-CTT	4126;111|109	Hom;-CTT	8744;2|201
N	N	-	13	25459713	25459713	G	GTT	indel	intronic	 	 	 	 	CENPJ	Cenpj	ENSG00000151849	centromere protein J	chr13:25457171-25497018	This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]	Micrencephaly |Microcephaly	Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007020;microtubule nucleation;TAS|GO:0007099;centriole replication;IMP|GO:0007224;smoothened signaling pathway;IEA|GO:0044458;motile cilium assembly;IEA|GO:0046599;regulation of centriole replication;IMP|GO:0046785;microtubule polymerization;IMP|GO:0051298;centrosome duplication;IEA|GO:0051301;cell division;NAS|GO:0061511;centriole elongation;IDA|GO:0097711;ciliary basal body docking;TAS|GO:0098534;centriole assembly;IEA|GO:1902857;positive regulation of non-motile cilium assembly;IEA|GO:1903087;mitotic spindle pole body duplication;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0008275;gamma-tubulin small complex;NAS|GO:0036064;ciliary basal body;IEA	GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CENPJ	https://www.uniprot.org/uniprot/Q9HC77	https://hpo.jax.org/app/browse/search?q=CENPJ&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609279	http://www.informatics.jax.org/searchtool/Search.do?query=CENPJ&submit=Quick%0D%9480ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPJ	rs34888101	0.15595	0.2319	0.2300	1	0	0	intronic	intronic	intronic	CENPJ	CENPJ	ENSG00000151849	Na	Na	Na	Na	Na	Na	Het;+TT	1587;62|46	Hom;+TT	5363;0|129
N	N	-	13	25533831	25533831	A	C	snp	ncRNA_intronic	 	 	 	 	TPTE2P1																		rs2483374	0.48722	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TPTE2P1	TPTE2P1	ENSG00000253771	Na	Na	Na	Na	Na	Na	Het;A>C	878;28|32	Hom;A>C	1310;0|42
N	N	-	13	25539601	25539602	TA	T	indel	ncRNA_intronic	 	 	 	 	TPTE2P1																		rs372501709	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TPTE2P1	TPTE2P1	ENSG00000253771	Na	Na	Na	Na	Na	Na	Het;-A	154;34|14	Hom;-A	1229;3|54
N	N	-	13	25542763	25542763	A	G	snp	upstream	 	 	 	 	TPTE2P1																		rs7987482	0.920927	0	0	1	0	0	upstream	upstream	upstream	TPTE2P1	TPTE2P1	ENSG00000253771	Na	Na	Na	Na	Na	Na	Het;A>G	132;11|5	Hom;A>G	412;1|13
N	N	-	13	25542897	25542897	A	T	snp	upstream	 	 	 	 	TPTE2P1																		rs2497554	0.919928	0	0	1	0	0	upstream	upstream	upstream	TPTE2P1	TPTE2P1	ENSG00000253771	Na	Na	Na	Na	Na	Na	Het;A>T	464;32|26	Hom;A>T	1109;0|44
N	N	-	13	25825889	25825889	T	C	snp	synonymous SNV	A1503G	Q501Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MTMR6	Mtmr6	ENSG00000139505	myotubularin related protein 6	chr13:25802307-25862147			 	Synthesis of PIPs at the plasma membrane	GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTMR6	https://www.uniprot.org/uniprot/Q9Y217		https://www.ncbi.nlm.nih.gov/omim/?term=603561	http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6	rs4312169	0.598442	0.6796	0.7476	1	0	0	exonic	exonic	exonic	MTMR6	MTMR6	ENSG00000139505	synonymous SNV	synonymous SNV	unknown	MTMR6:NM_004685:exon13:c.A1503G:p.Q501Q,	MTMR6:uc001uqf.4:exon13:c.A1503G:p.Q501Q,MTMR6:uc001uqe.1:exon13:c.A1503G:p.Q501Q,	UNKNOWN	Het;T>C	1062;34|47	Hom;T>C	2393;0|85
N	N	-	13	25831888	25831888	T	C	snp	nonsynonymous SNV	A955G	I319V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MTMR6	Mtmr6	ENSG00000139505	myotubularin related protein 6	chr13:25802307-25862147			 	Synthesis of PIPs at the plasma membrane	GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTMR6	https://www.uniprot.org/uniprot/Q9Y217		https://www.ncbi.nlm.nih.gov/omim/?term=603561	http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6	rs7995033	0.492212	0.6352	0.6992	0.38	5	13	exonic	exonic	exonic	MTMR6	MTMR6	ENSG00000139505	nonsynonymous SNV	nonsynonymous SNV	unknown	MTMR6:NM_004685:exon8:c.A955G:p.I319V,	MTMR6:uc001uqf.4:exon8:c.A955G:p.I319V,MTMR6:uc021rhi.1:exon3:c.A337G:p.I113V,MTMR6:uc001uqe.1:exon8:c.A955G:p.I319V,	UNKNOWN	Het;T>C	1108;55|51	Hom;T>C	2396;0|87
N	N	-	13	25841842	25841842	T	A	snp	intronic	 	 	 	 	MTMR6	Mtmr6	ENSG00000139505	myotubularin related protein 6	chr13:25802307-25862147			 	Synthesis of PIPs at the plasma membrane	GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTMR6	https://www.uniprot.org/uniprot/Q9Y217		https://www.ncbi.nlm.nih.gov/omim/?term=603561	http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6	rs4594103	0.622804	0	0	1	0	0	intronic	intronic	intronic	MTMR6	MTMR6	ENSG00000139505	Na	Na	Na	Na	Na	Na	Het;T>A	449;29|20	Hom;T>A	760;0|24
N	N	-	13	25994788	25994788	T	C	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs4238192	0.689497	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;T>C	49;2|3	Hom;T>C	270;0|8
N	N	-	13	26043405	26043405	T	C	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs77815308	0.151358	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;T>C	84;2|3	Hom;T>C	247;0|9
N	N	-	13	26107591	26107591	A	C	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs45451496	0.16873	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;A>C	173;3|5	Hom;A>C	221;0|6
N	N	-	13	26107595	26107595	C	T	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs7319869	0.516174	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;C>T	173;3|5	Hom;C>T	197;0|5
N	N	-	13	26107596	26107596	T	G	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs7325436	0.516174	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;T>G	173;3|5	Hom;T>G	197;0|4
N	N	-	13	26125651	26125651	G	A	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs34018109	0.168331	0.2851	0.2825	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;G>A	1228;56|55	Hom;G>A	2440;2|88
N	N	-	13	26125731	26125731	T	C	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs9581389	0.522764	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;T>C	491;5|17	Hom;T>C	494;0|16
N	N	-	13	26128128	26128128	C	A	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs7331675	0.39357	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;C>A	498;13|14	Hom;C>A	1678;0|40
N	N	-	13	26128129	26128129	A	G	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs7332442	0.522764	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;A>G	498;13|12	Hom;A>G	1728;0|38
N	N	-	13	26137957	26137957	T	C	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs12018180	0.549521	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;T>C	35;2|2	Hom;T>C	171;0|5
N	N	-	13	26137989	26137989	T	C	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs12871941	0.69369	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;T>C	71;6|4	Hom;T>C	258;0|8
N	N	-	13	26144896	26144896	C	T	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs17729346	0.174321	0.3005	0.3114	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;C>T	930;38|46	Hom;C>T	1738;2|68
N	N	-	13	26148966	26148966	C	T	snp	synonymous SNV	C1683T	F561F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs6491066	0.536342	0.7083	0.6287	1	0	0	exonic	exonic	exonic	ATP8A2	ATP8A2	ENSG00000132932	synonymous SNV	synonymous SNV	unknown	ATP8A2:NM_016529:exon19:c.C1683T:p.F561F,	ATP8A2:uc001uqk.3:exon19:c.C1683T:p.F561F,ATP8A2:uc010aaj.1:exon4:c.C213T:p.F71F,ATP8A2:uc010tdi.2:exon19:c.C1563T:p.F521F,	UNKNOWN	Het;C>T	819;82|46	Hom;C>T	2740;2|106
N	N	-	13	26155953	26155953	G	C	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs7335339	0.43111	0.6578	0.5764	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;G>C	327;17|15	Hom;G>C	1236;0|45
N	N	-	13	26436641	26436641	C	T	snp	intronic	 	 	 	 	ATP8A2	Atp8a2	ENSG00000132932	ATPase phospholipid transporting 8A2	chr13:25946209-26599989	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Body Weight; Subcutaneous Fat	Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.	Ion transport by P-type ATPases	GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2	https://www.uniprot.org/uniprot/Q9NTI2	https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605870	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2	rs2249800	0.503195	0	0	1	0	0	intronic	intronic	intronic	ATP8A2	ATP8A2	ENSG00000132932	Na	Na	Na	Na	Na	Na	Het;C>T	195;15|11	Hom;C>T	395;0|15
N	N	-	13	26811273	26811273	G	A	snp	downstream	 	 	 	 	THAP12P6																		rs9551251	0.367013	0	0	1	0	0	intergenic	intergenic	downstream	RNF6(dist=14765),CDK8(dist=17483)	RNF6(dist=14765),CDK8(dist=17483)	ENSG00000227882	Na	Na	Na	Na	Na	Na	Het;G>A	43;2|3	Hom;G>A	98;0|4
N	N	-	13	27737031	27737031	C	T	snp	ncRNA_exonic	 	 	 	 	USP12-AS1																		rs7984685	0.564297	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	USP12-AS1	USP12	ENSG00000232162	Na	Na	Na	Na	Na	Na	Het;C>T	619;46|32	Hom;C>T	1675;0|64
N	N	-	13	27845284	27845284	C	A	snp	intronic	 	 	 	 	RASL11A	Rasl11a	ENSG00000122035	RAS like family 11 member A	chr13:27844464-27847827	RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]	Platelet Aggregation; Alcoholism; Electrocardiography	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASL11A	https://www.uniprot.org/uniprot/Q6T310		https://www.ncbi.nlm.nih.gov/omim/?term=612403	http://www.informatics.jax.org/searchtool/Search.do?query=RASL11A&submit=Quick%0D%5378ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASL11A	rs9507866	0.531749	0	0	1	0	0	intronic	intronic	intronic	RASL11A	RASL11A	ENSG00000122035	Na	Na	Na	Na	Na	Na	Het;C>A	56;8|5	Hom;C>A	454;0|15
N	N	-	13	28622356	28622356	G	A	snp	intronic	 	 	 	 	FLT3	Flt3	ENSG00000122025	fms related tyrosine kinase 3	chr13:28577411-28674729	This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]	Leukemia, Myeloid|Translocation, Genetic; Leukemia, Myeloid, Acute|Neoplasm, Residual; Chromosome Aberrations|Chromosome abnormality|Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Leukemia, Myeloid; leukemia, lymphoid; Pancreatic Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Lymphoproliferative Disorders|Myelodysplastic Syndromes; leukemia; Leukemia, Promyelocytic, Acute; Leukemia, Myeloid, Acute|XYY Karyotype; longevity; Chromosome Aberrations|Leukemia, Myeloid, Acute; Leukemia, Myelomonocytic, Chronic; Alcoholism; Down Syndrome|Leukemia, Myeloid|Myeloid Leukemia; Type 2 Diabetes| edema | rosiglitazone; Precursor Cell Lymphoblastic Leukemia-Lymphoma; leukemia, acute myeloid; myeloid leukemia; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; acute promyelocytic leukemia; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Tobacco Use Disorder; Leukemia, Myeloid, Acute; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; leukemia, acute lymphoblastic; Cell Transformation, Neoplastic|Leukemia, Myeloid|Myeloid Leukemia; acute myeloid leukemia; acute promyelocytic leukemia.; pharmacogenetic studies; null; leukemia, myeloid; osteoporosis; leukemia, myeloid myelodysplastic syndrome; Leukemia, Myeloid, Acute|Recurrence; Leukemia	Mice functionally null for this gene display abnormal lymphopoiesis. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus.	Other interleukin signaling	GO:0001776;leukocyte homeostasis;ISS|GO:0002318;myeloid progenitor cell differentiation;ISS|GO:0002328;pro-B cell differentiation;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010243;response to organonitrogen compound;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;TAS|GO:0019221;cytokine-mediated signaling pathway;ISS|GO:0030097;hemopoiesis;IDA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;ISS|GO:0031100;animal organ regeneration;IEA|GO:0035726;common myeloid progenitor cell proliferation;ISS|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;TAS|GO:0042981;regulation of apoptotic process;TAS|GO:0043406;positive regulation of MAP kinase activity;TAS|GO:0043410;positive regulation of MAPK cascade;TAS|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;TAS|GO:0046651;lymphocyte proliferation;ISS|GO:0046777;protein autophosphorylation;TAS|GO:0071345;cellular response to cytokine stimulus;ISS|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0097028;dendritic cell differentiation;ISS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004896;cytokine receptor activity;ISS|GO:0005021;vascular endothelial growth factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042803;protein homodimerization activity;TAS|GO:0043621;protein self-association;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FLT3	https://www.uniprot.org/uniprot/P36888	https://hpo.jax.org/app/browse/search?q=FLT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136351	http://www.informatics.jax.org/searchtool/Search.do?query=FLT3&submit=Quick%0D%5374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT3	rs2153000	0.837061	0	0	1	0	0	intronic	intronic	intronic	FLT3	FLT3	ENSG00000122025	Na	Na	Na	Na	Na	Na	Het;G>A	233;17|11	Hom;G>A	728;0|25
N	N	-	13	28624294	28624294	G	A	snp	nonsynonymous SNV	C680T	T227M	polar,hydrophilic,neutral	hydrophobic,neutral	FLT3	Flt3	ENSG00000122025	fms related tyrosine kinase 3	chr13:28577411-28674729	This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]	Leukemia, Myeloid|Translocation, Genetic; Leukemia, Myeloid, Acute|Neoplasm, Residual; Chromosome Aberrations|Chromosome abnormality|Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Leukemia, Myeloid; leukemia, lymphoid; Pancreatic Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Lymphoproliferative Disorders|Myelodysplastic Syndromes; leukemia; Leukemia, Promyelocytic, Acute; Leukemia, Myeloid, Acute|XYY Karyotype; longevity; Chromosome Aberrations|Leukemia, Myeloid, Acute; Leukemia, Myelomonocytic, Chronic; Alcoholism; Down Syndrome|Leukemia, Myeloid|Myeloid Leukemia; Type 2 Diabetes| edema | rosiglitazone; Precursor Cell Lymphoblastic Leukemia-Lymphoma; leukemia, acute myeloid; myeloid leukemia; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; acute promyelocytic leukemia; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Tobacco Use Disorder; Leukemia, Myeloid, Acute; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; leukemia, acute lymphoblastic; Cell Transformation, Neoplastic|Leukemia, Myeloid|Myeloid Leukemia; acute myeloid leukemia; acute promyelocytic leukemia.; pharmacogenetic studies; null; leukemia, myeloid; osteoporosis; leukemia, myeloid myelodysplastic syndrome; Leukemia, Myeloid, Acute|Recurrence; Leukemia	Mice functionally null for this gene display abnormal lymphopoiesis. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus.	Other interleukin signaling	GO:0001776;leukocyte homeostasis;ISS|GO:0002318;myeloid progenitor cell differentiation;ISS|GO:0002328;pro-B cell differentiation;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010243;response to organonitrogen compound;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;TAS|GO:0019221;cytokine-mediated signaling pathway;ISS|GO:0030097;hemopoiesis;IDA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;ISS|GO:0031100;animal organ regeneration;IEA|GO:0035726;common myeloid progenitor cell proliferation;ISS|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;TAS|GO:0042981;regulation of apoptotic process;TAS|GO:0043406;positive regulation of MAP kinase activity;TAS|GO:0043410;positive regulation of MAPK cascade;TAS|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;TAS|GO:0046651;lymphocyte proliferation;ISS|GO:0046777;protein autophosphorylation;TAS|GO:0071345;cellular response to cytokine stimulus;ISS|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0097028;dendritic cell differentiation;ISS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004896;cytokine receptor activity;ISS|GO:0005021;vascular endothelial growth factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042803;protein homodimerization activity;TAS|GO:0043621;protein self-association;IMP	http://www.genecards.org/index.php?path=/Search/keyword/FLT3	https://www.uniprot.org/uniprot/P36888	https://hpo.jax.org/app/browse/search?q=FLT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136351	http://www.informatics.jax.org/searchtool/Search.do?query=FLT3&submit=Quick%0D%5374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT3	rs1933437	0.558706	0.5229	0.5988	0.62	8	13	exonic	exonic	exonic	FLT3	FLT3	ENSG00000122025	nonsynonymous SNV	nonsynonymous SNV	unknown	FLT3:NM_004119:exon6:c.C680T:p.T227M,	FLT3:uc010tdn.2:exon6:c.C680T:p.T227M,FLT3:uc001urw.3:exon6:c.C680T:p.T227M,	UNKNOWN	Het;G>A	1205;104|69	Hom;G>A	3593;0|136
N	N	-	13	28882948	28882948	G	A	snp	intronic	 	 	 	 	FLT1	Flt1	ENSG00000102755	fms related tyrosine kinase 1	chr13:28874489-29069265	This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]	pregnancy loss; Exercise Test; Cell Transformation, Neoplastic|Melanoma|Skin Neoplasms; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Neovascularization, Pathologic|Scleroderma, Systemic; Subcutaneous Fat; Cholesterol, HDL; Pre-Eclampsia; Body Weight; Lymphoma, Non-Hodgkin; Hip; colorectal cancer; Alcohol Drinking; Type 2 Diabetes| edema | rosiglitazone; Sarcoidosis; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Hypercholesterolemia|LDLC levels; Cognitive performance; Psychomotor Performance; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; intrauterine growth restriction; Bone Mineral Density; Bacterial Vaginosis|Premature Birth|Vaginosis, Bacterial	Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage.	VEGF binds to VEGFR leading to receptor dimerization	GO:0001525;angiogenesis;IEA|GO:0002548;monocyte chemotaxis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0006935;chemotaxis;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010863;positive regulation of phospholipase C activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0036323;vascular endothelial growth factor receptor-1 signaling pathway;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048598;embryonic morphogenesis;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0036326;VEGF-A-activated receptor activity;IDA|GO:0036327;VEGF-B-activated receptor activity;IDA|GO:0036332;placental growth factor-activated receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FLT1	https://www.uniprot.org/uniprot/P17948		https://www.ncbi.nlm.nih.gov/omim/?term=165070	http://www.informatics.jax.org/searchtool/Search.do?query=FLT1&submit=Quick%0D%2905ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT1	rs9579177	0.73103	0.6472	0.7921	1	0	0	intronic	intronic	intronic	FLT1	FLT1	ENSG00000102755	Na	Na	Na	Na	Na	Na	Het;G>A	961;13|47	Hom;G>A	1235;0|48
N	N	-	13	28883061	28883061	G	A	snp	synonymous SNV	C1014T	Y338Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	FLT1	Flt1	ENSG00000102755	fms related tyrosine kinase 1	chr13:28874489-29069265	This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]	pregnancy loss; Exercise Test; Cell Transformation, Neoplastic|Melanoma|Skin Neoplasms; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Neovascularization, Pathologic|Scleroderma, Systemic; Subcutaneous Fat; Cholesterol, HDL; Pre-Eclampsia; Body Weight; Lymphoma, Non-Hodgkin; Hip; colorectal cancer; Alcohol Drinking; Type 2 Diabetes| edema | rosiglitazone; Sarcoidosis; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Hypercholesterolemia|LDLC levels; Cognitive performance; Psychomotor Performance; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; intrauterine growth restriction; Bone Mineral Density; Bacterial Vaginosis|Premature Birth|Vaginosis, Bacterial	Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage.	VEGF binds to VEGFR leading to receptor dimerization	GO:0001525;angiogenesis;IEA|GO:0002548;monocyte chemotaxis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0006935;chemotaxis;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010863;positive regulation of phospholipase C activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0036323;vascular endothelial growth factor receptor-1 signaling pathway;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048598;embryonic morphogenesis;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0036326;VEGF-A-activated receptor activity;IDA|GO:0036327;VEGF-B-activated receptor activity;IDA|GO:0036332;placental growth factor-activated receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FLT1	https://www.uniprot.org/uniprot/P17948		https://www.ncbi.nlm.nih.gov/omim/?term=165070	http://www.informatics.jax.org/searchtool/Search.do?query=FLT1&submit=Quick%0D%2905ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT1	rs7993418	0.730831	0.6465	0.7921	1	0	0	exonic	exonic	exonic	FLT1	FLT1	ENSG00000102755	synonymous SNV	synonymous SNV	unknown	FLT1:NM_002019:exon28:c.C3639T:p.Y1213Y,	FLT1:uc010aaq.2:exon10:c.C1014T:p.Y338Y,FLT1:uc001usa.3:exon15:c.C1293T:p.Y431Y,FLT1:uc010aap.2:exon7:c.C654T:p.Y218Y,FLT1:uc001usb.3:exon28:c.C3639T:p.Y1213Y,	UNKNOWN	Het;G>A	756;24|36	Hom;G>A	1421;0|55
N	N	-	13	29675131	29675131	G	A	snp	intronic	 	 	 	 	MTUS2	Mtus2	ENSG00000132938	microtubule associated scaffold protein 2	chr13:29598748-30077892		Heart Failure; Asthma; Tobacco Use Disorder; Maximal Midexpiratory Flow Rate; Cholesterol, HDL; Blood Pressure	 			GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0045171;intercellular bridge;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MTUS2	https://www.uniprot.org/uniprot/Q5JR59			http://www.informatics.jax.org/searchtool/Search.do?query=MTUS2&submit=Quick%0D%6766ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTUS2	rs3829381	0.369409	0.2758	0.4216	1	0	0	intronic	intronic	intronic	MTUS2	MTUS2	ENSG00000132938	Na	Na	Na	Na	Na	Na	Het;G>A	169;14|9	Hom;G>A	412;2|17
N	N	-	13	30222006	30222006	T	C	snp	intergenic	 	 	 	 	SLC7A1	Slc7a1	ENSG00000139514	solute carrier family 7 member 1	chr13:30083547-30169825		endothelial dysfunction hypertension; Socioeconomic Factors	Homozygous mutants die on the first day of birth and are very anemic.  Peripheral blood contains 50% fewer red blood cells, reduced hemoglobin levels, and a defect in erythroid maturation.	Amino acid transport across the plasma membrane	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;NAS|GO:0006865;amino acid transport;TAS|GO:0015809;arginine transport;IEA|GO:1903826;arginine transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015181;arginine transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A1	https://www.uniprot.org/uniprot/P30825		https://www.ncbi.nlm.nih.gov/omim/?term=104615	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A1&submit=Quick%0D%7893ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A1	rs9579439	0.047524	0	0	1	0	0	intergenic	intergenic	intergenic	SLC7A1(dist=52181),UBL3(dist=116539)	SLC7A1(dist=52181),UBL3(dist=116539)	ENSG00000139514(dist=52181),ENSG00000122042(dist=116502)	Na	Na	Na	Na	Na	Na	Het;T>C	139;11|6	Hom;T>C	440;1|13
N	N	-	13	30279662	30279662	T	C	snp	intergenic	 	 	 	 	SLC7A1	Slc7a1	ENSG00000139514	solute carrier family 7 member 1	chr13:30083547-30169825		endothelial dysfunction hypertension; Socioeconomic Factors	Homozygous mutants die on the first day of birth and are very anemic.  Peripheral blood contains 50% fewer red blood cells, reduced hemoglobin levels, and a defect in erythroid maturation.	Amino acid transport across the plasma membrane	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;NAS|GO:0006865;amino acid transport;TAS|GO:0015809;arginine transport;IEA|GO:1903826;arginine transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015181;arginine transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A1	https://www.uniprot.org/uniprot/P30825		https://www.ncbi.nlm.nih.gov/omim/?term=104615	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A1&submit=Quick%0D%7893ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A1	rs12853894	0.0441294	0	0	1	0	0	intergenic	intergenic	intergenic	SLC7A1(dist=109837),UBL3(dist=58883)	SLC7A1(dist=109837),UBL3(dist=58883)	ENSG00000139514(dist=109837),ENSG00000122042(dist=58846)	Na	Na	Na	Na	Na	Na	Het;T>C	96;10|5	Hom;T>C	497;0|17
N	N	-	13	30574667	30574667	G	A	snp	intergenic	 	 	 	 	LINC00544																		rs8002871	0.593251	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00544(dist=50042),KATNAL1(dist=202100)	LINC00544(dist=50042),KATNAL1(dist=202100)	ENSG00000122043(dist=50042),ENSG00000266505(dist=21491)	Na	Na	Na	Na	Na	Na	Het;G>A	373;13|19	Hom;G>A	839;0|32
N	N	-	13	30624189	30624189	C	A	snp	intergenic	 	 	 	 	AL354674.1																		rs66566952	0.257987	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00544(dist=99564),KATNAL1(dist=152578)	LINC00544(dist=99564),KATNAL1(dist=152578)	ENSG00000266505(dist=26252),ENSG00000224511(dist=53126)	Na	Na	Na	Na	Na	Na	Het;C>A	167;13|9	Hom;C>A	845;0|32
N	N	-	13	31789169	31789170	CT	C	indel	intronic	 	 	 	 	B3GALTL	 																	rs35344913	0	0	0.6045	1	0	0	intronic	intronic	intronic	B3GALTL	B3GALTL	ENSG00000187676	Na	Na	Na	Na	Na	Na	Het;-T	2331;19|132	Hom;-T	2568;14|136
N	N	-	13	32527529	32527529	A	G	snp	ncRNA_exonic	 	 	 	 	EEF1DP3																		rs916756	0.411342	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	EEF1DP3	DKFZp666K117	ENSG00000229715	Na	Na	Na	Na	Na	Na	Het;A>G	53;7|4	Hom;A>G	132;0|4
N	N	-	13	32676096	32676096	C	T	snp	intronic	 	 	 	 	FRY	Fry	ENSG00000073910	FRY microtubule binding protein	chr13:32605437-32870794		Thyrotropin; Tobacco Use Disorder; Body Fat Distribution; benzene haematotoxicity; Fibrinogen	 		GO:0000902;cell morphogenesis;IBA|GO:0031175;neuron projection development;IBA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0090527;actin filament reorganization;IBA|GO:1904428;negative regulation of tubulin deacetylation;IEA	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IBA|GO:0030427;site of polarized growth;IBA	GO:0004857;enzyme inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FRY	https://www.uniprot.org/uniprot/Q5TBA9		https://www.ncbi.nlm.nih.gov/omim/?term=614818	http://www.informatics.jax.org/searchtool/Search.do?query=FRY&submit=Quick%0D%1486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRY	rs12428144	0.0952476	0.0380	0.0645	1	0	0	intronic	intronic	intronic	FRY	FRY	ENSG00000073910	Na	Na	Na	Na	Na	Na	Het;C>T	1652;94|80	Hom;C>T	4917;1|188
N	N	-	13	32747468	32747468	C	T	snp	intronic	 	 	 	 	FRY	Fry	ENSG00000073910	FRY microtubule binding protein	chr13:32605437-32870794		Thyrotropin; Tobacco Use Disorder; Body Fat Distribution; benzene haematotoxicity; Fibrinogen	 		GO:0000902;cell morphogenesis;IBA|GO:0031175;neuron projection development;IBA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0090527;actin filament reorganization;IBA|GO:1904428;negative regulation of tubulin deacetylation;IEA	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IBA|GO:0030427;site of polarized growth;IBA	GO:0004857;enzyme inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FRY	https://www.uniprot.org/uniprot/Q5TBA9		https://www.ncbi.nlm.nih.gov/omim/?term=614818	http://www.informatics.jax.org/searchtool/Search.do?query=FRY&submit=Quick%0D%1486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRY	rs2073998	0.130791	0.1126	0.1368	1	0	0	intronic	intronic	intronic	FRY	FRY	ENSG00000073910	Na	Na	Na	Na	Na	Na	Het;C>T	405;10|18	Hom;C>T	1020;0|35
N	N	-	13	33071894	33071894	G	T	snp	ncRNA_exonic	 	 	 	 	MINOS1P1																		rs207642	0.744808	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	MINOS1P1	MINOS1P1	ENSG00000244754	Na	Na	Na	Na	Na	Na	Het;G>T	1048;55|52	Hom;G>T	3266;0|122
N	N	-	13	33080493	33080493	C	T	snp	ncRNA_exonic	 	 	 	 	N4BP2L2-IT2																		rs207631	0.613618	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	N4BP2L2-IT2	N4BP2L2-IT2	ENSG00000244754	Na	Na	Na	Na	Na	Na	Het;C>T	1697;86|81	Hom;C>T	3517;0|132
N	N	-	13	33082351	33082351	G	C	snp	ncRNA_exonic	 	 	 	 	N4BP2L2-IT2																		rs9315168	0.195088	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	N4BP2L2-IT2	N4BP2L2-IT2	ENSG00000244754	Na	Na	Na	Na	Na	Na	Het;G>C	1037;67|51	Hom;G>C	3044;0|104
N	N	-	13	33083371	33083371	G	C	snp	ncRNA_exonic	 	 	 	 	N4BP2L2-IT2																		rs207632	0.316494	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	N4BP2L2-IT2	N4BP2L2-IT2	ENSG00000244754	Na	Na	Na	Na	Na	Na	Het;G>C	592;28|24	Hom;G>C	1451;0|50
N	N	-	13	33083553	33083553	C	T	snp	intronic	 	 	 	 	N4BP2L2	N4bp2l2	ENSG00000244754	NEDD4 binding protein 2 like 2	chr13:33006554-33112970		Creatinine	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:1902035;positive regulation of hematopoietic stem cell proliferation;IMP|GO:1902037;negative regulation of hematopoietic stem cell differentiation;IMP	GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0001106;RNA polymerase II transcription corepressor activity;ISS|GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/N4BP2L2			https://www.ncbi.nlm.nih.gov/omim/?term=615788	http://www.informatics.jax.org/searchtool/Search.do?query=N4BP2L2&submit=Quick%0D%19868ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=N4BP2L2	rs207633	0.528355	0	0	1	0	0	intronic	intronic	intronic	N4BP2L2	N4BP2L2	ENSG00000244754	Na	Na	Na	Na	Na	Na	Het;C>T	342;28|18	Hom;C>T	1377;0|52
N	N	-	13	33095620	33095620	G	A	snp	intronic	 	 	 	 	N4BP2L2	N4bp2l2	ENSG00000244754	NEDD4 binding protein 2 like 2	chr13:33006554-33112970		Creatinine	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:1902035;positive regulation of hematopoietic stem cell proliferation;IMP|GO:1902037;negative regulation of hematopoietic stem cell differentiation;IMP	GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0001106;RNA polymerase II transcription corepressor activity;ISS|GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/N4BP2L2			https://www.ncbi.nlm.nih.gov/omim/?term=615788	http://www.informatics.jax.org/searchtool/Search.do?query=N4BP2L2&submit=Quick%0D%19868ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=N4BP2L2	rs621450	0.316494	0.3051	0.3540	1	0	0	intronic	intronic	intronic	N4BP2L2	N4BP2L2	ENSG00000244754	Na	Na	Na	Na	Na	Na	Het;G>A	488;33|27	Hom;G>A	1133;0|47
N	N	-	13	33101731	33101731	T	C	snp	intronic	 	 	 	 	N4BP2L2	N4bp2l2	ENSG00000244754	NEDD4 binding protein 2 like 2	chr13:33006554-33112970		Creatinine	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:1902035;positive regulation of hematopoietic stem cell proliferation;IMP|GO:1902037;negative regulation of hematopoietic stem cell differentiation;IMP	GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0001106;RNA polymerase II transcription corepressor activity;ISS|GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/N4BP2L2			https://www.ncbi.nlm.nih.gov/omim/?term=615788	http://www.informatics.jax.org/searchtool/Search.do?query=N4BP2L2&submit=Quick%0D%19868ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=N4BP2L2	rs391612	0.614816	0	0	1	0	0	intronic	intronic	intronic	N4BP2L2	N4BP2L2	ENSG00000244754	Na	Na	Na	Na	Na	Na	Het;T>C	584;23|22	Hom;T>C	1192;0|40
N	N	-	13	33315186	33315186	C	T	snp	intronic	 	 	 	 	PDS5B	Pds5b	ENSG00000083642	PDS5 cohesin associated factor B	chr13:33160564-33352157	This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]	Insulin; Alzheimer Disease; Neuroblastoma	Mice homozygous for a null allele exhibit embryonic and neonatal lethality with cardiac defects, craniofacial abnormalities, axial skeletal defects, shortening of most of the long bones, abnormal enteric nervous system morphology, and decreased germ cells.	Resolution of Sister Chromatid Cohesion	GO:0006281;DNA repair;IBA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0008283;cell proliferation;TAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0042127;regulation of cell proliferation;IDA|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;TAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDS5B	https://www.uniprot.org/uniprot/Q9NTI5		https://www.ncbi.nlm.nih.gov/omim/?term=605333	http://www.informatics.jax.org/searchtool/Search.do?query=PDS5B&submit=Quick%0D%1833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDS5B	rs2320469	0	0	0.9380	1	0	0	intronic	intronic	intronic	PDS5B	PDS5B	ENSG00000083642	Na	Na	Na	Na	Na	Na	Het;C>T	1361;14|53	Hom;C>T	2207;2|57
N	N	-	13	33315189	33315189	G	T	snp	intronic	 	 	 	 	PDS5B	Pds5b	ENSG00000083642	PDS5 cohesin associated factor B	chr13:33160564-33352157	This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]	Insulin; Alzheimer Disease; Neuroblastoma	Mice homozygous for a null allele exhibit embryonic and neonatal lethality with cardiac defects, craniofacial abnormalities, axial skeletal defects, shortening of most of the long bones, abnormal enteric nervous system morphology, and decreased germ cells.	Resolution of Sister Chromatid Cohesion	GO:0006281;DNA repair;IBA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0008283;cell proliferation;TAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0042127;regulation of cell proliferation;IDA|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;TAS|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDS5B	https://www.uniprot.org/uniprot/Q9NTI5		https://www.ncbi.nlm.nih.gov/omim/?term=605333	http://www.informatics.jax.org/searchtool/Search.do?query=PDS5B&submit=Quick%0D%1833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDS5B	rs2320470	0	0	0.9374	1	0	0	intronic	intronic	intronic	PDS5B	PDS5B	ENSG00000083642	Na	Na	Na	Na	Na	Na	Het;G>T	1383;14|57	Hom;G>T	2243;3|61
N	N	-	13	33703656	33703656	T	C	snp	synonymous SNV	A1113G	E371E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	STARD13	Stard13	ENSG00000133121	StAR related lipid transfer domain containing 13	chr13:33677272-33924767	This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder; Waist-Hip Ratio; C-Reactive Protein; Hip; Hematocrit; Intracranial Aneurysm; Lipids; smoking cessation; Hemorrhage|Intracranial Aneurysm; Type 2 Diabetes| edema | rosiglitazone; Potassium	Mice homozygous for a knock-out allele exhibit small body size, decreased weight, and reduced adipose tissue. Mice homozygous for another knock-out allele exhibit increased angiogenesis in matrigel plugs and implanted tumors.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043542;endothelial cell migration;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IGI|GO:0097498;endothelial tube lumen extension;IGI	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STARD13	https://www.uniprot.org/uniprot/Q9Y3M8		https://www.ncbi.nlm.nih.gov/omim/?term=609866	http://www.informatics.jax.org/searchtool/Search.do?query=STARD13&submit=Quick%0D%6804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD13	rs495680	0.515575	0.5446	0.5858	1	0	0	exonic	exonic	exonic	STARD13	STARD13	ENSG00000133121	synonymous SNV	synonymous SNV	unknown	STARD13:NM_178006:exon5:c.A1158G:p.E386E,STARD13:NM_178007:exon5:c.A1134G:p.E378E,STARD13:NM_001243474:exon5:c.A804G:p.E268E,STARD13:NM_001243466:exon5:c.A1134G:p.E378E,STARD13:NM_052851:exon5:c.A804G:p.E268E,STARD13:NM_001243476:exon9:c.A1053G:p.E351E,	STARD13:uc010abh.1:exon5:c.A1113G:p.E371E,STARD13:uc001uuw.3:exon5:c.A1158G:p.E386E,STARD13:uc021ria.1:exon5:c.A804G:p.E268E,STARD13:uc001uuv.3:exon5:c.A804G:p.E268E,STARD13:uc001uux.3:exon9:c.A1053G:p.E351E,STARD13:uc001uuu.3:exon5:c.A1134G:p.E378E,STARD13:uc021rhz.1:exon5:c.A1134G:p.E378E,	UNKNOWN	Het;T>C	2851;144|130	Hom;T>C	7956;1|278
N	N	-	13	34790122	34790122	C	T	snp	intergenic	 	 	 	 	SNORA25																		rs61948167	0.331669	0	0	1	0	0	intergenic	intergenic	intergenic	RFC3(dist=249427),LINC00457(dist=219469)	RFC3(dist=249427),LINC00457(dist=219469)	ENSG00000199196(dist=115147),ENSG00000271850(dist=132058)	Na	Na	Na	Na	Na	Na	Het;C>T	53;13|5	Hom;C>T	373;0|15
N	N	-	13	36273368	36273368	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00445																		rs3751387	0.746406	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	MIR548F5	MIR548F5	ENSG00000236036	Na	Na	Na	Na	Na	Na	Het;G>C	964;52|39	Hom;G>C	2390;0|79
N	N	-	13	36483481	36483481	C	T	snp	ncRNA_intronic	 	 	 	 	MIR548F5																		rs1539544	0.392572	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR548F5	DCLK1,MIR548F5	ENSG00000133083	Na	Na	Na	Na	Na	Na	Het;C>T	778;54|41	Hom;C>T	1940;0|73
N	N	-	13	36521433	36521433	T	G	snp	intronic	 	 	 	 	DCLK1	Dclk1	ENSG00000133083	doublecortin like kinase 1	chr13:36345478-36705443	This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]	C-Reactive Protein; Tobacco Use Disorder; Optic Disk; Attention Deficit Disorder with Hyperactivity; cognitive ability; Stroke; Body Height; Heart Rate	Mice homozygous for a null allele lack the corpus callosum and hippocampal commissure and show aberrant interhemispheric axonal projections. Mice homozygous for a different null allele have normal gross brain architecture but show axonal and dendritic defects following knockdown of Dcx expression.		GO:0001764;neuron migration;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007409;axonogenesis;IEA|GO:0007417;central nervous system development;TAS|GO:0007420;brain development;IEA|GO:0009615;response to virus;IEP|GO:0016197;endosomal transport;NAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030900;forebrain development;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0048675;axon extension;IEA|GO:0048812;neuron projection morphogenesis;IBA|GO:0048813;dendrite morphogenesis;IEA|GO:1900181;negative regulation of protein localization to nucleus;IEA	GO:0005622;intracellular;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DCLK1	https://www.uniprot.org/uniprot/O15075		https://www.ncbi.nlm.nih.gov/omim/?term=604742	http://www.informatics.jax.org/searchtool/Search.do?query=DCLK1&submit=Quick%0D%6791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLK1	rs1936004	0.473442	0	0	1	0	0	intronic	intronic	intronic	DCLK1	DCLK1	ENSG00000133083	Na	Na	Na	Na	Na	Na	Het;T>G	58;6|3	Hom;T>G	472;0|16
N	N	-	13	36521460	36521460	A	G	snp	intronic	 	 	 	 	DCLK1	Dclk1	ENSG00000133083	doublecortin like kinase 1	chr13:36345478-36705443	This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]	C-Reactive Protein; Tobacco Use Disorder; Optic Disk; Attention Deficit Disorder with Hyperactivity; cognitive ability; Stroke; Body Height; Heart Rate	Mice homozygous for a null allele lack the corpus callosum and hippocampal commissure and show aberrant interhemispheric axonal projections. Mice homozygous for a different null allele have normal gross brain architecture but show axonal and dendritic defects following knockdown of Dcx expression.		GO:0001764;neuron migration;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007409;axonogenesis;IEA|GO:0007417;central nervous system development;TAS|GO:0007420;brain development;IEA|GO:0009615;response to virus;IEP|GO:0016197;endosomal transport;NAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030900;forebrain development;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0048675;axon extension;IEA|GO:0048812;neuron projection morphogenesis;IBA|GO:0048813;dendrite morphogenesis;IEA|GO:1900181;negative regulation of protein localization to nucleus;IEA	GO:0005622;intracellular;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DCLK1	https://www.uniprot.org/uniprot/O15075		https://www.ncbi.nlm.nih.gov/omim/?term=604742	http://www.informatics.jax.org/searchtool/Search.do?query=DCLK1&submit=Quick%0D%6791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLK1	rs1936003	0.465655	0.5009	0.6148	1	0	0	intronic	intronic	intronic	DCLK1	DCLK1	ENSG00000133083	Na	Na	Na	Na	Na	Na	Het;A>G	174;15|9	Hom;A>G	657;0|22
N	N	-	13	36973013	36973013	G	C	snp	intergenic	 	 	 	 	SPG20	 	ENSG00000133104	spartin	chr13:36875775-36944317	This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]	multiple sclerosis; Waist Circumference	Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination.		GO:0009838;abscission;IMP|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0034389;lipid particle organization;IEA|GO:0048698;negative regulation of collateral sprouting in absence of injury;IEA|GO:0050905;neuromuscular process;IEA|GO:0051301;cell division;IMP|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0060612;adipose tissue development;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030496;midbody;IDA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPG20	https://www.uniprot.org/uniprot/Q8N0X7		https://www.ncbi.nlm.nih.gov/omim/?term=607111	http://www.informatics.jax.org/searchtool/Search.do?query=SPG20&submit=Quick%0D%6793ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPG20	rs4245376	0.879792	0	0	1	0	0	intergenic	intergenic	intergenic	SPG20(dist=28696),CCNA1(dist=32954)	SPG20(dist=28696),CCNA1(dist=32644)	ENSG00000133104(dist=28696),ENSG00000133101(dist=32954)	Na	Na	Na	Na	Na	Na	Het;G>C	173;14|9	Hom;G>C	677;0|26
N	N	-	13	37014366	37014366	G	A	snp	intronic	 	 	 	 	CCNA1	Ccna1	ENSG00000133101	cyclin A1	chr13:37005967-37017019	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tunica Media; Infertility, Male; Fibrinogen; CD40 Ligand; ovarian cancer	Homozygous null males are infertile due to the arrest of spermatogenesis prior to the first meiotic division. Female mutant mice are fertile.	Cyclin A:Cdk2-associated events at S phase entry	GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007141;male meiosis I;TAS|GO:0007283;spermatogenesis;TAS|GO:0016579;protein deubiquitination;TAS|GO:0051301;cell division;IEA|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007141;male meiosis I;TAS|GO:0007283;spermatogenesis;TAS|GO:0016579;protein deubiquitination;TAS|GO:0051301;cell division;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0097123;cyclin A1-CDK2 complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCNA1	https://www.uniprot.org/uniprot/P78396		https://www.ncbi.nlm.nih.gov/omim/?term=604036	http://www.informatics.jax.org/searchtool/Search.do?query=CCNA1&submit=Quick%0D%149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNA1	rs2282411	0.339058	0.3124	0.3805	1	0	0	intronic	intronic	intronic	CCNA1	CCNA1	ENSG00000133101	Na	Na	Na	Na	Na	Na	Het;G>A	731;32|37	Hom;G>A	2396;0|88
N	N	-	13	38083919	38083919	T	G	snp	intergenic	 	 	 	 	LINC01048																		rs1923715	0.328674	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01048(dist=24998),LINC00547(dist=25158)	CSNK1A1L(dist=404118),LINC00547(dist=25158)	ENSG00000230390(dist=25013),ENSG00000133110(dist=52801)	Na	Na	Na	Na	Na	Na	Het;T>G	601;13|23	Hom;T>G	815;0|32
N	N	-	13	38817252	38817252	G	GAACTT	indel	intergenic	 	 	 	 	LINC00571																		rs147870896	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00571(dist=99883),UFM1(dist=106656)	LINC00571(dist=99883),UFM1(dist=106690)	ENSG00000223685(dist=99883),ENSG00000120686(dist=106736)	Na	Na	Na	Na	Na	Na	Het;+AACTT	234;4|4	Hom;+AACTT	458;0|10
N	N	-	13	38817415	38817415	G	A	snp	intergenic	 	 	 	 	LINC00571																		rs2323713	0.435304	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00571(dist=100046),UFM1(dist=106493)	LINC00571(dist=100046),UFM1(dist=106527)	ENSG00000223685(dist=100046),ENSG00000120686(dist=106573)	Na	Na	Na	Na	Na	Na	Het;G>A	194;18|11	Hom;G>A	797;0|28
N	N	-	13	39036926	39036926	G	C	snp	intergenic	 	 	 	 	UFM1	Ufm1	ENSG00000120686	ubiquitin fold modifier 1	chr13:38923986-38937140	UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]		 		GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0071569;protein ufmylation;IDA|GO:1990592;protein K69-linked ufmylation;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UFM1	https://www.uniprot.org/uniprot/P61960	https://hpo.jax.org/app/browse/search?q=UFM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610553	http://www.informatics.jax.org/searchtool/Search.do?query=UFM1&submit=Quick%0D%5231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UFM1	rs2323903	0.432308	0	0	1	0	0	intergenic	intergenic	intergenic	UFM1(dist=99782),LINC00437(dist=69211)	UFM1(dist=99783),LINC00366(dist=104935)	ENSG00000120686(dist=99786),ENSG00000236354(dist=70554)	Na	Na	Na	Na	Na	Na	Het;G>C	993;60|49	Hom;G>C	2339;0|89
N	N	-	13	39622075	39622075	T	C	snp	UTR3	*12T>C	 	 	 	NHLRC3	Nhlrc3	ENSG00000188811	NHL repeat containing 3	chr13:39612443-39624246	This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]	Echocardiography; Cystatins; Body Fat Distribution	 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/NHLRC3				http://www.informatics.jax.org/searchtool/Search.do?query=NHLRC3&submit=Quick%0D%16116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NHLRC3	rs9532318	0.836462	0.7620	0.7515	1	0	0	UTR3	UTR3	UTR3	NHLRC3(NM_001017370:c.*12T>C,NM_001012754:c.*12T>C)	NHLRC3(uc001uxc.4:c.*12T>C,uc001uxe.4:c.*12T>C,uc001uxd.4:c.*12T>C)	ENSG00000188811(ENST00000470258:c.*12T>C,ENST00000379600:c.*12T>C,ENST00000379599:c.*12T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1463;73|68	Hom;T>C	3670;0|134
N	N	-	13	41195411	41195411	G	A	snp	ncRNA_exonic	 	 	 	 	RLIMP1																		rs12583418	0.520367	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FOXO1	FOXO1	ENSG00000229456	Na	Na	Na	Na	Na	Na	Het;G>A	519;21|24	Hom;G>A	727;0|28
N	N	-	13	41893105	41893105	T	G	snp	intronic	 	 	 	 	NAA16	Naa16	ENSG00000172766	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	chr13:41885341-41951166			 		GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0017196;N-terminal peptidyl-methionine acetylation;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0050821;protein stabilization;IMP	GO:0005634;nucleus;ISS|GO:0005667;transcription factor complex;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031415;NatA complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0016407;acetyltransferase activity;ISS|GO:0043022;ribosome binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NAA16				http://www.informatics.jax.org/searchtool/Search.do?query=NAA16&submit=Quick%0D%13225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA16	rs2065498	0.679113	0	0	1	0	0	intronic	intronic	intronic	NAA16	NAA16	ENSG00000172766	Na	Na	Na	Na	Na	Na	Het;T>G	615;18|25	Hom;T>G	1383;0|47
N	N	-	13	41948051	41948051	G	C	snp	intronic	 	 	 	 	NAA16	Naa16	ENSG00000172766	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	chr13:41885341-41951166			 		GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0017196;N-terminal peptidyl-methionine acetylation;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0050821;protein stabilization;IMP	GO:0005634;nucleus;ISS|GO:0005667;transcription factor complex;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031415;NatA complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0016407;acetyltransferase activity;ISS|GO:0043022;ribosome binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NAA16				http://www.informatics.jax.org/searchtool/Search.do?query=NAA16&submit=Quick%0D%13225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA16	rs9525478	0.565296	0	0	1	0	0	intronic	intronic	intronic	NAA16	NAA16	ENSG00000172766	Na	Na	Na	Na	Na	Na	Het;G>C	160;4|6	Hom;G>C	401;0|11
N	N	-	13	41958308	41958308	C	T	snp	downstream	 	 	 	 	TUBBP2																		rs4635232	0.684904	0	0	1	0	0	intergenic	intergenic	downstream	NAA16(dist=7142),OR7E37P(dist=58392)	NAA16(dist=7142),OR7E37P(dist=58392)	ENSG00000214222	Na	Na	Na	Na	Na	Na	Het;C>T	393;24|19	Hom;C>T	1351;0|52
N	N	-	13	41983178	41983178	T	C	snp	intergenic	 	 	 	 	TUBBP2																		rs9532804	0.745407	0	0	1	0	0	intergenic	intergenic	intergenic	NAA16(dist=32012),OR7E37P(dist=33522)	NAA16(dist=32012),OR7E37P(dist=33522)	ENSG00000214222(dist=23859),ENSG00000205240(dist=22247)	Na	Na	Na	Na	Na	Na	Het;T>C	183;13|10	Hom;T>C	651;0|23
N	N	-	13	41986711	41986711	T	C	snp	intergenic	 	 	 	 	TUBBP2																		rs4319652	0.669728	0	0	1	0	0	intergenic	intergenic	intergenic	NAA16(dist=35545),OR7E37P(dist=29989)	NAA16(dist=35545),OR7E37P(dist=29989)	ENSG00000214222(dist=27392),ENSG00000205240(dist=18714)	Na	Na	Na	Na	Na	Na	Het;T>C	72;10|6	Hom;T>C	293;0|12
N	N	-	13	41986751	41986751	A	G	snp	intergenic	 	 	 	 	TUBBP2																		rs4462486	0.669529	0	0	1	0	0	intergenic	intergenic	intergenic	NAA16(dist=35585),OR7E37P(dist=29949)	NAA16(dist=35585),OR7E37P(dist=29949)	ENSG00000214222(dist=27432),ENSG00000205240(dist=18674)	Na	Na	Na	Na	Na	Na	Het;A>G	35;8|4	Hom;A>G	222;0|7
N	N	-	13	42303944	42303944	C	CAT	indel	intronic	 	 	 	 	VWA8	Vwa8	ENSG00000102763	von Willebrand factor A domain containing 8	chr13:42140973-42535256		Insulin Resistance; autism; Body Weight; bipolar disorder; Body Mass Index; Tobacco Use Disorder	 			GO:0005576;extracellular region;IEA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VWA8	https://www.uniprot.org/uniprot/A3KMH1		https://www.ncbi.nlm.nih.gov/omim/?term=617509	http://www.informatics.jax.org/searchtool/Search.do?query=VWA8&submit=Quick%0D%2907ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VWA8	rs10647198	0.202875	0	0	1	0	0	intronic	intronic	intronic	VWA8	VWA8	ENSG00000102763	Na	Na	Na	Na	Na	Na	Het;+AT	36;3|3	Hom;+AT	134;0|4
N	N	-	13	42826641	42826641	G	T	snp	intergenic	 	 	 	 	DGKH	Dgkh	ENSG00000102780	diacylglycerol kinase eta	chr13:42614176-42830714	This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]	Monocytes; Body Composition; Alzheimer Disease; Bipolar disorder; Cholesterol; Body Height; Cholesterol, LDL; height; bipolar disorder; Tobacco Use Disorder; Bipolar Disorder; Nephrolithiasis	 	Effects of PIP2 hydrolysis	GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IMP|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0051259;protein oligomerization;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DGKH	https://www.uniprot.org/uniprot/Q86XP1		https://www.ncbi.nlm.nih.gov/omim/?term=604071	http://www.informatics.jax.org/searchtool/Search.do?query=DGKH&submit=Quick%0D%2908ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKH	rs9566950	0.276957	0	0	1	0	0	intergenic	intergenic	intergenic	DGKH(dist=9608),NONE(dist=NONE)	AK054970(dist=9615),NONE(dist=NONE)	ENSG00000102780(dist=9609),ENSG00000234213(dist=3368)	Na	Na	Na	Na	Na	Na	Het;G>T	268;22|15	Hom;G>T	966;0|38
N	N	-	13	42869720	42869720	A	AG	indel	intronic	 	 	 	 	AKAP11	Akap11	ENSG00000023516	A-kinase anchoring protein 11	chr13:42846289-42897396	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]	Bone mineral density (spine)	Mice homozygous for a knock-out allele show a reduction in body size, body length and tibia length, hypoactivity, slow movement and increased anxiety-related responses, and exhibit actin barrier defects in kidney collecting duct cells and increased urine osmolality in response to overhydration.		GO:0010738;regulation of protein kinase A signaling;IBA|GO:0035556;intracellular signal transduction;TAS|GO:0010738;regulation of protein kinase A signaling;IBA|GO:0035556;intracellular signal transduction;TAS	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA	GO:0008157;protein phosphatase 1 binding;TAS|GO:0051018;protein kinase A binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AKAP11	https://www.uniprot.org/uniprot/Q9UKA4		https://www.ncbi.nlm.nih.gov/omim/?term=604696	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP11&submit=Quick%0D%64ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP11	rs3835266	0.704673	0	0	1	0	0	intronic	intronic	intronic	AKAP11	AKAP11	ENSG00000023516	Na	Na	Na	Na	Na	Na	Het;+G	211;9|8	Hom;+G	370;0|10
N	N	-	13	42888230	42888230	A	G	snp	intronic	 	 	 	 	AKAP11	Akap11	ENSG00000023516	A-kinase anchoring protein 11	chr13:42846289-42897396	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]	Bone mineral density (spine)	Mice homozygous for a knock-out allele show a reduction in body size, body length and tibia length, hypoactivity, slow movement and increased anxiety-related responses, and exhibit actin barrier defects in kidney collecting duct cells and increased urine osmolality in response to overhydration.		GO:0010738;regulation of protein kinase A signaling;IBA|GO:0035556;intracellular signal transduction;TAS|GO:0010738;regulation of protein kinase A signaling;IBA|GO:0035556;intracellular signal transduction;TAS	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA	GO:0008157;protein phosphatase 1 binding;TAS|GO:0051018;protein kinase A binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AKAP11	https://www.uniprot.org/uniprot/Q9UKA4		https://www.ncbi.nlm.nih.gov/omim/?term=604696	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP11&submit=Quick%0D%64ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP11	rs9566957	0.542931	0	0	1	0	0	intronic	intronic	intronic	AKAP11	AKAP11	ENSG00000023516	Na	Na	Na	Na	Na	Na	Het;A>G	279;8|9	Hom;A>G	326;0|10
N	N	-	13	43463299	43463299	T	C	snp	intronic	 	 	 	 	EPSTI1	Epsti1	ENSG00000133106	epithelial stromal interaction 1	chr13:43460524-43566407	The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]		Mice homozygous for a null allele exhibit enhanced M2 macrophage differentiation and inhibited M1 polarization.					http://www.genecards.org/index.php?path=/Search/keyword/EPSTI1	https://www.uniprot.org/uniprot/Q96J88		https://www.ncbi.nlm.nih.gov/omim/?term=607441	http://www.informatics.jax.org/searchtool/Search.do?query=EPSTI1&submit=Quick%0D%6795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPSTI1	rs1323864	0.677516	0.5378	0.5803	1	0	0	intronic	intronic	intronic	EPSTI1	EPSTI1	ENSG00000133106	Na	Na	Na	Na	Na	Na	Het;T>C	413;16|22	Hom;T>C	1180;0|43
N	N	-	13	43732704	43732704	G	A	snp	upstream	 	 	 	 	LINC00400																		rs2589314	0.629193	0	0	1	0	0	ncRNA_intronic	intergenic	upstream	LINC00400	DNAJC15(dist=49398),ENOX1(dist=54962)	ENSG00000229928	Na	Na	Na	Na	Na	Na	Het;G>A	182;2|8	Hom;G>A	433;0|15
N	N	-	13	43935405	43935405	C	T	snp	intronic	 	 	 	 	ENOX1	Enox1	ENSG00000120658	ecto-NOX disulfide-thiol exchanger 1	chr13:43787654-44361044	Electron transport pathways are generally associated with mitochondrial membranes, but non-mitochondrial pathways are also biologically significant. Plasma membrane electron transport pathways are involved in functions as diverse as cellular defense, intracellular redox homeostasis, and control of cell growth and survival. Members of the ecto-NOX family, such as CNOX, or ENOX1, are involved in plasma membrane transport pathways. These enzymes exhibit both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity in series, with each activity cycling every 22 to 26 minutes (Scarlett et al., 2005 [PubMed 15882838]).[supplied by OMIM, Mar 2008]	Subcutaneous Fat; Arthritis, Rheumatoid; Tobacco Use Disorder; Blood Pressure	 		GO:0048511;rhythmic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENOX1	https://www.uniprot.org/uniprot/Q8TC92		https://www.ncbi.nlm.nih.gov/omim/?term=610914	http://www.informatics.jax.org/searchtool/Search.do?query=ENOX1&submit=Quick%0D%5226ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENOX1	rs1535580	0.491613	0.5467	0.5212	1	0	0	intronic	intronic	intronic	ENOX1	ENOX1	ENSG00000120658	Na	Na	Na	Na	Na	Na	Het;C>T	395;29|19	Hom;C>T	976;0|36
N	N	-	13	44029327	44029327	C	T	snp	ncRNA_intronic	 	 	 	 	ENOX1-AS2																		rs1323145	0.326677	0	0	1	0	0	ncRNA_intronic	intronic	intronic	ENOX1-AS2	ENOX1	ENSG00000120658	Na	Na	Na	Na	Na	Na	Het;C>T	110;5|6	Hom;C>T	673;0|22
N	N	-	13	44033199	44033199	C	A	snp	ncRNA_exonic	 	 	 	 	ENOX1-AS2																		rs7993541	0.397165	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	ENOX1-AS2	ENOX1	ENSG00000238189	Na	Na	Na	Na	Na	Na	Het;C>A	631;57|34	Hom;C>A	2791;1|103
N	N	-	13	44434367	44434370	AATT	A	indel	intronic	 	 	 	 	CCDC122	Ccdc122	ENSG00000151773	coiled-coil domain containing 122	chr13:44398045-44453827		Leprosy, Multibacillary|Leprosy, Paucibacillary; Body Mass Index; Leprosy	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC122	https://www.uniprot.org/uniprot/Q5T0U0		https://www.ncbi.nlm.nih.gov/omim/?term=613408	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC122&submit=Quick%0D%9469ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC122	rs72274241	0.246206	0	0	1	0	0	intronic	intronic	intronic	CCDC122	CCDC122	ENSG00000151773	Na	Na	Na	Na	Na	Na	Het;-ATT	86;1|3	Hom;-ATT	98;0|3
N	N	-	13	44717730	44717730	G	A	snp	ncRNA_exonic	 	 	 	 	SMIM2-AS1																		rs9567375	0.15635	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SMIM2-AS1	MGC5590	ENSG00000227258	Na	Na	Na	Na	Na	Na	Het;G>A	1405;17|64	Hom;G>A	2629;0|100
N	N	-	13	44721703	44721703	G	A	snp	ncRNA_intronic	 	 	 	 	MGC5590																		rs7994785	0.18131	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SMIM2-AS1,SMIM2-IT1	MGC5590,SMIM2-IT1	ENSG00000227258,ENSG00000235285	Na	Na	Na	Na	Na	Na	Het;G>A	532;23|24	Hom;G>A	1278;0|46
N	N	-	13	44722312	44722312	T	G	snp	ncRNA_intronic	 	 	 	 	MGC5590																		rs4942285	0.241414	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SMIM2-AS1,SMIM2-IT1	MGC5590,SMIM2-IT1	ENSG00000227258,ENSG00000235285	Na	Na	Na	Na	Na	Na	Het;T>G	471;4|20	Hom;T>G	1269;1|41
N	N	-	13	46641685	46641685	A	G	snp	ncRNA_intronic	 	 	 	 	CPB2-AS1																		rs9316180	0.307508	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CPB2-AS1	CPB2-AS1	ENSG00000235903	Na	Na	Na	Na	Na	Na	Het;A>G	249;5|8	Hom;A>G	134;0|4
N	N	-	13	46675295	46675295	T	G	snp	ncRNA_exonic	 	 	 	 	CPB2-AS1																		rs7139616	0.389577	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CPB2-AS1	CPB2-AS1	ENSG00000235903	Na	Na	Na	Na	Na	Na	Het;T>G	1533;126|77	Hom;T>G	4916;4|185
N	N	-	13	46728924	46728924	C	T	snp	intronic	 	 	 	 	LCP1	Lcp1	ENSG00000136167	lymphocyte cytosolic protein 1	chr13:46700055-46786006	Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]	diabetes, type 2	Mice homozygous for a knock-out allele exhibit increased susceptibility to S. aureus infection, defective neutrophil killing of S. aureus, and impaired adhesion-dependent respiratory bursts in neutrophils.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0002286;T cell activation involved in immune response;IDA|GO:0010737;protein kinase A signaling;IMP|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0031100;animal organ regeneration;IEA|GO:0033157;regulation of intracellular protein transport;IDA|GO:0051017;actin filament bundle assembly;IMP|GO:0051639;actin filament network formation;IBA|GO:0051764;actin crosslink formation;IBA|GO:0071803;positive regulation of podosome assembly;IMP	GO:0001725;stress fiber;IMP|GO:0001726;ruffle;IMP|GO:0001891;phagocytic cup;IEA|GO:0002102;podosome;IDA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IMP|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IMP|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IMP|GO:0032432;actin filament bundle;IMP|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005509;calcium ion binding;NAS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IMP|GO:0051020;GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LCP1	https://www.uniprot.org/uniprot/P13796		https://www.ncbi.nlm.nih.gov/omim/?term=153430	http://www.informatics.jax.org/searchtool/Search.do?query=LCP1&submit=Quick%0D%7303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCP1	rs2296122	0.541534	0.5005	0.5141	1	0	0	intronic	intronic	intronic	LCP1	LCP1	ENSG00000136167	Na	Na	Na	Na	Na	Na	Het;C>T	1116;41|56	Hom;C>T	2579;0|99
N	N	-	13	46872061	46872061	C	T	snp	upstream	 	 	 	 	LINC00563																		rs9595460	0.127596	0	0	1	0	0	upstream	upstream	upstream	LINC00563	LINC00563	ENSG00000261097	Na	Na	Na	Na	Na	Na	Het;C>T	313;13|14	Hom;C>T	292;0|9
N	N	-	13	46937481	46937481	T	TA	indel	ncRNA_intronic	 	 	 	 	PPP1R2P4																		rs397959347	0.1873	0	0	1	0	0	intronic	intronic	ncRNA_intronic	KIAA0226L	KIAA0226L	ENSG00000241353	Na	Na	Na	Na	Na	Na	Het;+A	45;3|3	Hom;+A	158;0|6
N	N	-	13	47029738	47029738	A	G	snp	ncRNA_intronic	 	 	 	 	LINC01198																		rs12871503	0.258586	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01198	KIAA0226L(dist=17413),LRCH1(dist=97558)	ENSG00000231817	Na	Na	Na	Na	Na	Na	Het;A>G	110;3|4	Hom;A>G	176;0|5
N	N	-	13	47032032	47032032	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01198																		rs59097736	0.256989	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01198	KIAA0226L(dist=19707),LRCH1(dist=95264)	ENSG00000231817	Na	Na	Na	Na	Na	Na	Het;C>T	538;90|38	Hom;C>T	2027;2|83
N	N	-	13	47032116	47032116	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01198																		rs55800203	0.254792	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_exonic	LINC01198	KIAA0226L(dist=19791),LRCH1(dist=95180)	ENSG00000231817	Na	Na	Na	Na	Na	Na	Het;G>A	290;29|11	Hom;G>A	894;1|30
N	N	-	13	47033457	47033457	A	AT	indel	ncRNA_intronic	 	 	 	 	LINC01198																		rs71074788	0.196086	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01198	KIAA0226L(dist=21132),LRCH1(dist=93839)	ENSG00000231817	Na	Na	Na	Na	Na	Na	Het;+T	178;3|6	Hom;+T	163;0|5
N	N	-	13	47256065	47256065	C	G	snp	intronic	 	 	 	 	LRCH1	Lrch1	ENSG00000136141	leucine rich repeats and calponin homology domain containing 1	chr13:47127303-47327175	This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]	Albumins; osteoarthritis; Osteoarthritis, Knee; Erythrocytes; Degenerative arthropathy |Osteoarthritis	Homozygous knockout leads to increased susceptibility to experimental autoimmune encephalomyelitis as a result of increased migration of T cells into the central nervous system.		GO:0007165;signal transduction;IBA	GO:0005886;plasma membrane;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRCH1	https://www.uniprot.org/uniprot/Q9Y2L9		https://www.ncbi.nlm.nih.gov/omim/?term=610368	http://www.informatics.jax.org/searchtool/Search.do?query=LRCH1&submit=Quick%0D%7290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRCH1	rs45439193	0.305711	0	0	1	0	0	intronic	intronic	intronic	LRCH1	LRCH1	ENSG00000136141	Na	Na	Na	Na	Na	Na	Het;C>G	599;49|37	Hom;C>G	1789;0|68
N	N	-	13	47260337	47260337	C	T	snp	intronic	 	 	 	 	LRCH1	Lrch1	ENSG00000136141	leucine rich repeats and calponin homology domain containing 1	chr13:47127303-47327175	This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]	Albumins; osteoarthritis; Osteoarthritis, Knee; Erythrocytes; Degenerative arthropathy |Osteoarthritis	Homozygous knockout leads to increased susceptibility to experimental autoimmune encephalomyelitis as a result of increased migration of T cells into the central nervous system.		GO:0007165;signal transduction;IBA	GO:0005886;plasma membrane;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRCH1	https://www.uniprot.org/uniprot/Q9Y2L9		https://www.ncbi.nlm.nih.gov/omim/?term=610368	http://www.informatics.jax.org/searchtool/Search.do?query=LRCH1&submit=Quick%0D%7290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRCH1	rs842379	0.273163	0	0	1	0	0	intronic	intronic	intronic	LRCH1	LRCH1	ENSG00000136141	Na	Na	Na	Na	Na	Na	Het;C>T	113;7|5	Hom;C>T	220;0|7
N	N	-	13	47620956	47620956	A	G	snp	intergenic	 	 	 	 	HTR2A	Htr2a	ENSG00000102468	5-hydroxytryptamine receptor 2A	chr13:47405685-47471169	This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	personality traits; psychiatric symptoms; Urinary Incontinence; Cholesterol, HDL; bulimia; temporomandibular dysfunction; Bulimia; several psychiatric disorders; obsessive compulsive disorder; negative affective facial stimuli ; Akathisia, Drug-Induced; Parkinson's disease; memory impairment; Alzheimer's disease; psychosis; frontal brain electrical asymmetry; treatment response in psychotic patients; depression; financial and psychological risk attitudes; Alcoholism|Recurrence; Schizophrenia; Brain Injuries; suicide; suicidal ideation; obesity; behavior problems; schizophrenia; migraine; migraine with aura; anorexia nervosa; bulimia; bipolar I disorder; Type 2 Diabetes| edema | rosiglitazone; Sleep Initiation and Maintenance Disorders; unipolar affective disorder; psychiatric disorders; impulsive behavior; schizophrenia; tardive dyskinesia; Bipolar Affective Disorder; personality traits, Impulsivity; depression | Bipolar Disorder; depressive disorder, major; Alzheimer's disease depression psychoticism; bipolar disorder; psychosis, puerperal; diabetes, type 2; Puerperal Disorders; platelet phamacodynamics; behavioral disorder; Alzheimer's disease; psychoses; Substance Withdrawal Syndrome; medication overuse headache; antidepressant treatment; hypertension; cognitive trait; dystonia, acute parkinsonism tardive dyskinesia; hostility personality traits; chronic obstructive pulmonary disease; attention deficit hyperactivity disorder; suicidal ideation and suicide.; panic disorder; depressive disorder, major; nausea; mood disorders; normal variation; ADHD | attention-deficit hyperactivity disorder; completed suicide; Alzheimer's Disease; sleep disorders; Hip Fractures; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; self-harm behavior; aura; food and alcohol intake; Alcoholism; Bedwetting|Constipation|Diurnal Enuresis|Nocturnal Enuresis|Sleep Arousal Disorders; Psoriasis; Heroin Dependence; tardive dyskinesia; Bipolar Disorder; Hypercholesterolemia|LDLC levels; Nausea; Dyskinesia, Drug-Induced; neuroleptic malignant syndrome; Autism; Pain, Postoperative; schizophrenia; psychoses; aggressive behavior; verbal fluency; migraine with aura; Cholesterol; ADHD; personality; Psychophysiologic Disorders; Fatigue|Fatigue Syndrome, Chronic; schizophrenia; affective disorder; major depressive disorder; anorexia nervosa; Arthritis, Rheumatoid|Rheumatoid Arthritis; asthma; lipids; memory impairment; Parkinson Disease(C10.228.140.079.862.500)/genetics; impulse behavior; heroin abuse; alcohol abuse; behavior problems; anorexia nervosa; bulimia nervosa; rheumatoid arthritis; Metabolic Syndrome X; olanzapine; schizophrenia; suicide; Alcoholism|Heroin Dependence; Weight Gain; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; attention deficit disorder conduct disorder oppositional defiant disorder; Aging/ Telomere Length; suicide | mood disorders; cholesterol, HDL; schizophrenia; verbal fluency; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; sleep disorders; body mass; suicide; Alzheimer's disease ; obsessive- compulsive disorder ; seasonal affective disorder; attention deficit disorder; seasonal affective disorder; autism; schizophrenia; therapeutic response; energy intake; fat intake; Tourette syndrome; insulin; lipids; obesity; glucose; leptin; response to antidepressants; cholesterol, HDL; cardiovascular disease; obesity; hyperuricemia; psychosis; Scleroderma, Systemic; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; weight gain, antipsychotic drug-induced; risperidone treatment response; Deliberate self-harm; eating disorders; suicidal behavior in depressed patients.; cognitive function; harm avoidance; Panic disorder ; myocardial infarct; Anoxia|Sudden Infant Death; Fibromyalgia; antidepressant medication intolerance.; response to clozapine; sexual side-effects; Parkinson's disease ; bipolar disorder; unipolar disorder; Tardive Dyskinesia in Schizophrenia; Alzheimer's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Blood Pressure Determination; bipolar disorder; mania, antidepressant-induced; major depression; personality disorders; psychotic symptomatology of mood disorders; migraine ; nicotine dependence; cotinine; dyspepsia; suicide; depression; Sleep Apnea, Obstructive; null; Dyspepsia; Tobacco Use Disorder; Arthritis, Rheumatoid; irritable bowel syndrome; anxiety disorder; alcoholism; panic disorder; narcolepsy; narcolepsy; Alzheimer's disease; anxiety disorder; depression; psychoses; aggressive behavior; pharmacogenetic studies; bipolar disorder; major depressive disorder; rapid cycling mood disorder; Major Depression; depression drug hypersensitivity; anorexia nervosa personality traits; antipsychotic-induced adverse reactions; Migraine; psychiatric status; adiposity; impulse control disorder; affective disorder; Acute Coronary Syndrome|; Marijuana Abuse|Psychoses, Substance-Induced; alcohol dependence; alcoholism; psychoses; suicidal behavior; citalopram; Glomerulonephritis, IGA; delusions hallucinations psychoses; alcoholism; alcoholic psychosis; smoking behavior; Heart Diseases|Inflammation|Myocardial Infarction; alcohol abuse; Alcoholism|Substance Withdrawal Syndrome; alcohol consumption; clozapine response; schizophrenia weight gain; stress	Mice homozygous for a knock-out allele show altered anxiety-related responses and increased vertical activity. Mice homozygous for a different knock-out allele exhibit abnormal enterocyte, Paneth cell and smooth muscle morphology.	G alpha (q) signalling events	GO:0001659;temperature homeostasis;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IBA|GO:0007202;activation of phospholipase C activity;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007208;phospholipase C-activating serotonin receptor signaling pathway;IEA|GO:0007210;serotonin receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007568;aging;IEA|GO:0007610;behavior;IEA|GO:0007613;memory;IEA|GO:0008219;cell death;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010513;positive regulation of phosphatidylinositol biosynthetic process;IDA|GO:0014059;regulation of dopamine secretion;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0014824;artery smooth muscle contraction;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0016032;viral process;IEA|GO:0019233;sensory perception of pain;IEA|GO:0030431;sleep;IEA|GO:0033674;positive regulation of kinase activity;IEA|GO:0042493;response to drug;IDA|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0044380;protein localization to cytoskeleton;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0045821;positive regulation of glycolytic process;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046883;regulation of hormone secretion;IEA|GO:0048148;behavioral response to cocaine;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050795;regulation of behavior;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0070852;cell body fiber;IEA	GO:0001618;virus receptor activity;IEA|GO:0001965;G-protein alpha-subunit binding;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;TAS|GO:0008144;drug binding;IDA|GO:0030594;neurotransmitter receptor activity;IBA|GO:0032403;protein complex binding;IEA|GO:0051378;serotonin binding;IDA|GO:0071886;1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR2A	https://www.uniprot.org/uniprot/P28223		https://www.ncbi.nlm.nih.gov/omim/?term=182135	http://www.informatics.jax.org/searchtool/Search.do?query=HTR2A&submit=Quick%0D%2885ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR2A	rs9562700	0.517971	0	0	1	0	0	intergenic	intergenic	intergenic	HTR2A(dist=149745),LINC00562(dist=883332)	HTR2A(dist=149745),Metazoa_SRP(dist=412119)	ENSG00000102468(dist=149787),ENSG00000234590(dist=260261)	Na	Na	Na	Na	Na	Na	Het;A>G	1041;47|45	Hom;A>G	2817;0|106
N	N	-	13	47621003	47621003	C	T	snp	intergenic	 	 	 	 	HTR2A	Htr2a	ENSG00000102468	5-hydroxytryptamine receptor 2A	chr13:47405685-47471169	This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	personality traits; psychiatric symptoms; Urinary Incontinence; Cholesterol, HDL; bulimia; temporomandibular dysfunction; Bulimia; several psychiatric disorders; obsessive compulsive disorder; negative affective facial stimuli ; Akathisia, Drug-Induced; Parkinson's disease; memory impairment; Alzheimer's disease; psychosis; frontal brain electrical asymmetry; treatment response in psychotic patients; depression; financial and psychological risk attitudes; Alcoholism|Recurrence; Schizophrenia; Brain Injuries; suicide; suicidal ideation; obesity; behavior problems; schizophrenia; migraine; migraine with aura; anorexia nervosa; bulimia; bipolar I disorder; Type 2 Diabetes| edema | rosiglitazone; Sleep Initiation and Maintenance Disorders; unipolar affective disorder; psychiatric disorders; impulsive behavior; schizophrenia; tardive dyskinesia; Bipolar Affective Disorder; personality traits, Impulsivity; depression | Bipolar Disorder; depressive disorder, major; Alzheimer's disease depression psychoticism; bipolar disorder; psychosis, puerperal; diabetes, type 2; Puerperal Disorders; platelet phamacodynamics; behavioral disorder; Alzheimer's disease; psychoses; Substance Withdrawal Syndrome; medication overuse headache; antidepressant treatment; hypertension; cognitive trait; dystonia, acute parkinsonism tardive dyskinesia; hostility personality traits; chronic obstructive pulmonary disease; attention deficit hyperactivity disorder; suicidal ideation and suicide.; panic disorder; depressive disorder, major; nausea; mood disorders; normal variation; ADHD | attention-deficit hyperactivity disorder; completed suicide; Alzheimer's Disease; sleep disorders; Hip Fractures; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; self-harm behavior; aura; food and alcohol intake; Alcoholism; Bedwetting|Constipation|Diurnal Enuresis|Nocturnal Enuresis|Sleep Arousal Disorders; Psoriasis; Heroin Dependence; tardive dyskinesia; Bipolar Disorder; Hypercholesterolemia|LDLC levels; Nausea; Dyskinesia, Drug-Induced; neuroleptic malignant syndrome; Autism; Pain, Postoperative; schizophrenia; psychoses; aggressive behavior; verbal fluency; migraine with aura; Cholesterol; ADHD; personality; Psychophysiologic Disorders; Fatigue|Fatigue Syndrome, Chronic; schizophrenia; affective disorder; major depressive disorder; anorexia nervosa; Arthritis, Rheumatoid|Rheumatoid Arthritis; asthma; lipids; memory impairment; Parkinson Disease(C10.228.140.079.862.500)/genetics; impulse behavior; heroin abuse; alcohol abuse; behavior problems; anorexia nervosa; bulimia nervosa; rheumatoid arthritis; Metabolic Syndrome X; olanzapine; schizophrenia; suicide; Alcoholism|Heroin Dependence; Weight Gain; Parkinson Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; attention deficit disorder conduct disorder oppositional defiant disorder; Aging/ Telomere Length; suicide | mood disorders; cholesterol, HDL; schizophrenia; verbal fluency; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; sleep disorders; body mass; suicide; Alzheimer's disease ; obsessive- compulsive disorder ; seasonal affective disorder; attention deficit disorder; seasonal affective disorder; autism; schizophrenia; therapeutic response; energy intake; fat intake; Tourette syndrome; insulin; lipids; obesity; glucose; leptin; response to antidepressants; cholesterol, HDL; cardiovascular disease; obesity; hyperuricemia; psychosis; Scleroderma, Systemic; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; weight gain, antipsychotic drug-induced; risperidone treatment response; Deliberate self-harm; eating disorders; suicidal behavior in depressed patients.; cognitive function; harm avoidance; Panic disorder ; myocardial infarct; Anoxia|Sudden Infant Death; Fibromyalgia; antidepressant medication intolerance.; response to clozapine; sexual side-effects; Parkinson's disease ; bipolar disorder; unipolar disorder; Tardive Dyskinesia in Schizophrenia; Alzheimer's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Blood Pressure Determination; bipolar disorder; mania, antidepressant-induced; major depression; personality disorders; psychotic symptomatology of mood disorders; migraine ; nicotine dependence; cotinine; dyspepsia; suicide; depression; Sleep Apnea, Obstructive; null; Dyspepsia; Tobacco Use Disorder; Arthritis, Rheumatoid; irritable bowel syndrome; anxiety disorder; alcoholism; panic disorder; narcolepsy; narcolepsy; Alzheimer's disease; anxiety disorder; depression; psychoses; aggressive behavior; pharmacogenetic studies; bipolar disorder; major depressive disorder; rapid cycling mood disorder; Major Depression; depression drug hypersensitivity; anorexia nervosa personality traits; antipsychotic-induced adverse reactions; Migraine; psychiatric status; adiposity; impulse control disorder; affective disorder; Acute Coronary Syndrome|; Marijuana Abuse|Psychoses, Substance-Induced; alcohol dependence; alcoholism; psychoses; suicidal behavior; citalopram; Glomerulonephritis, IGA; delusions hallucinations psychoses; alcoholism; alcoholic psychosis; smoking behavior; Heart Diseases|Inflammation|Myocardial Infarction; alcohol abuse; Alcoholism|Substance Withdrawal Syndrome; alcohol consumption; clozapine response; schizophrenia weight gain; stress	Mice homozygous for a knock-out allele show altered anxiety-related responses and increased vertical activity. Mice homozygous for a different knock-out allele exhibit abnormal enterocyte, Paneth cell and smooth muscle morphology.	G alpha (q) signalling events	GO:0001659;temperature homeostasis;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IBA|GO:0007202;activation of phospholipase C activity;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007208;phospholipase C-activating serotonin receptor signaling pathway;IEA|GO:0007210;serotonin receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007568;aging;IEA|GO:0007610;behavior;IEA|GO:0007613;memory;IEA|GO:0008219;cell death;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010513;positive regulation of phosphatidylinositol biosynthetic process;IDA|GO:0014059;regulation of dopamine secretion;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0014824;artery smooth muscle contraction;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0016032;viral process;IEA|GO:0019233;sensory perception of pain;IEA|GO:0030431;sleep;IEA|GO:0033674;positive regulation of kinase activity;IEA|GO:0042493;response to drug;IDA|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0044380;protein localization to cytoskeleton;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0045821;positive regulation of glycolytic process;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046883;regulation of hormone secretion;IEA|GO:0048148;behavioral response to cocaine;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050795;regulation of behavior;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0070852;cell body fiber;IEA	GO:0001618;virus receptor activity;IEA|GO:0001965;G-protein alpha-subunit binding;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;TAS|GO:0008144;drug binding;IDA|GO:0030594;neurotransmitter receptor activity;IBA|GO:0032403;protein complex binding;IEA|GO:0051378;serotonin binding;IDA|GO:0071886;1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR2A	https://www.uniprot.org/uniprot/P28223		https://www.ncbi.nlm.nih.gov/omim/?term=182135	http://www.informatics.jax.org/searchtool/Search.do?query=HTR2A&submit=Quick%0D%2885ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR2A	rs9567775	0.491613	0	0	1	0	0	intergenic	intergenic	intergenic	HTR2A(dist=149792),LINC00562(dist=883285)	HTR2A(dist=149792),Metazoa_SRP(dist=412072)	ENSG00000102468(dist=149834),ENSG00000234590(dist=260214)	Na	Na	Na	Na	Na	Na	Het;C>T	1354;66|69	Hom;C>T	3865;0|146
N	N	-	13	48321044	48321044	C	T	snp	intergenic	 	 	 	 	RN7SL700P																		rs2897432	0.731829	0	0	1	0	0	intergenic	intergenic	intergenic	HTR2A(dist=849833),LINC00562(dist=183244)	Metazoa_SRP(dist=287675),SUCLA2(dist=195747)	ENSG00000244521(dist=287675),ENSG00000234145(dist=16551)	Na	Na	Na	Na	Na	Na	Het;C>T	32;5|3	Hom;C>T	301;0|12
N	N	-	13	48337637	48337637	G	C	snp	ncRNA_exonic	 	 	 	 	NAP1L4P3																		rs1924802	0.126398	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HTR2A(dist=866426),LINC00562(dist=166651)	Metazoa_SRP(dist=304268),SUCLA2(dist=179154)	ENSG00000234145	Na	Na	Na	Na	Na	Na	Het;G>C	233;7|12	Hom;G>C	485;2|17
N	N	-	13	48505493	48505493	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00562																		rs1041070	0.318091	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00562	Metazoa_SRP(dist=472124),SUCLA2(dist=11298)	ENSG00000260388	Na	Na	Na	Na	Na	Na	Het;C>T	1158;54|51	Hom;C>T	2172;0|75
N	N	-	13	48505663	48505663	G	GTA	indel	ncRNA_exonic	 	 	 	 	LINC00562																		rs3056577	0.301518	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00562	Metazoa_SRP(dist=472294),SUCLA2(dist=11128)	ENSG00000260388	Na	Na	Na	Na	Na	Na	Het;+TA	1589;53|45	Hom;+TA	5041;0|120
N	N	-	13	48626116	48626116	G	C	snp	intergenic	 	 	 	 	NUDT15	Nudt15	ENSG00000136159	nudix hydrolase 15	chr13:48611703-48621358	This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]	THIOPURINES POOR METABOLISM OF 2	 	Phosphate bond hydrolysis by NUDT proteins	GO:0000278;mitotic cell cycle;IMP|GO:0006195;purine nucleotide catabolic process;IMP|GO:0006203;dGTP catabolic process;IDA|GO:0034656;nucleobase-containing small molecule catabolic process;TAS|GO:0042262;DNA protection;IMP|GO:0042738;exogenous drug catabolic process;IMP|GO:0061136;regulation of proteasomal protein catabolic process;IMP|GO:1901292;nucleoside phosphate catabolic process;IDA	GO:0005829;cytosol;TAS	GO:0004551;nucleotide diphosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008413;8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0017110;nucleoside-diphosphatase activity;EXP|GO:0035529;NADH pyrophosphatase activity;IEA|GO:0035539;8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047429;nucleoside-triphosphate diphosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT15	https://www.uniprot.org/uniprot/Q9NV35		https://www.ncbi.nlm.nih.gov/omim/?term=615792	http://www.informatics.jax.org/searchtool/Search.do?query=NUDT15&submit=Quick%0D%7300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT15	rs2406709	0.466853	0	0	1	0	0	intergenic	intergenic	intergenic	NUDT15(dist=4758),MED4(dist=23748)	NUDT15(dist=4834),MED4(dist=23748)	ENSG00000136159(dist=4758),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>C	1843;78|85	Hom;G>C	4419;0|147
N	N	-	13	48653957	48653959	AAC	A	indel	ncRNA_exonic	 	 	 	 	MED4-AS1																		rs138539860	0.0946486	0.1081	0.1097	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MED4-AS1	MED4-AS1	ENSG00000229111	Na	Na	Na	Na	Na	Na	Het;-AC	877;24|26	Hom;-AC	3159;0|76
N	N	-	13	48660380	48660380	T	C	snp	intronic	 	 	 	 	MED4	Med4	ENSG00000136146	mediator complex subunit 4	chr13:48627459-48669267	This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	HIV Infections|[X]Human immunodeficiency virus disease	 	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0030518;intracellular steroid hormone receptor signaling pathway;IDA|GO:0030521;androgen receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016592;mediator complex;IDA|GO:0070847;core mediator complex;IBA	GO:0001104;RNA polymerase II transcription cofactor activity;IDA|GO:0003712;transcription cofactor activity;IDA|GO:0004872;receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;NAS|GO:0042809;vitamin D receptor binding;NAS|GO:0046966;thyroid hormone receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MED4	https://www.uniprot.org/uniprot/Q9NPJ6		https://www.ncbi.nlm.nih.gov/omim/?term=605718	http://www.informatics.jax.org/searchtool/Search.do?query=MED4&submit=Quick%0D%7293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED4	rs41287449	0.096845	0.1104	0.1110	1	0	0	intronic	intronic	intronic	MED4	MED4	ENSG00000136146	Na	Na	Na	Na	Na	Na	Het;T>C	468;22|22	Hom;T>C	1758;0|53
N	N	-	13	50123622	50123622	G	C	snp	synonymous SNV	C1017G	P339P	hydrophobic,neutral	hydrophobic,neutral	RCBTB1	Rcbtb1	ENSG00000136144	RCC1 and BTB domain containing protein 1	chr13:50106082-50159719	This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]	Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0016569;covalent chromatin modification;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/RCBTB1	https://www.uniprot.org/uniprot/Q8NDN9	https://hpo.jax.org/app/browse/search?q=RCBTB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607867	http://www.informatics.jax.org/searchtool/Search.do?query=RCBTB1&submit=Quick%0D%7292ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RCBTB1	rs3751384	0.47524	0.5544	0.5852	1	0	0	exonic	exonic	exonic	RCBTB1	RCBTB1	ENSG00000136144	synonymous SNV	synonymous SNV	unknown	RCBTB1:NM_018191:exon9:c.C1017G:p.P339P,	RCBTB1:uc001vde.1:exon9:c.C1017G:p.P339P,	UNKNOWN	Het;G>C	2747;116|122	Hom;G>C	6700;0|235
N	N	-	13	50141345	50141345	G	A	snp	nonsynonymous SNV	C71T	A24V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RCBTB1	Rcbtb1	ENSG00000136144	RCC1 and BTB domain containing protein 1	chr13:50106082-50159719	This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]	Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0016569;covalent chromatin modification;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/RCBTB1	https://www.uniprot.org/uniprot/Q8NDN9	https://hpo.jax.org/app/browse/search?q=RCBTB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607867	http://www.informatics.jax.org/searchtool/Search.do?query=RCBTB1&submit=Quick%0D%7292ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RCBTB1	rs4942848	0.526158	0.5803	0.6165	0.54	7	13	exonic	exonic	exonic	RCBTB1	RCBTB1	ENSG00000136144	nonsynonymous SNV	nonsynonymous SNV	unknown	RCBTB1:NM_018191:exon3:c.C71T:p.A24V,	RCBTB1:uc001vde.1:exon3:c.C71T:p.A24V,	UNKNOWN	Het;G>A	1538;85|75	Hom;G>A	3865;0|148
N	N	-	13	51102058	51102058	T	C	snp	ncRNA_exonic	 	 	 	 	DLEU1	 	ENSG00000176124	deleted in lymphocytic leukemia 1 (non-protein coding)	chr13:50656307-51297372		Body Weight	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DLEU1			https://www.ncbi.nlm.nih.gov/omim/?term=605765	http://www.informatics.jax.org/searchtool/Search.do?query=DLEU1&submit=Quick%0D%13803ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLEU1	rs279074	0.458267	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	DLEU1	DLEU1	ENSG00000229323	Na	Na	Na	Na	Na	Na	Het;T>C	616;37|30	Hom;T>C	1404;0|51
N	N	-	13	52507110	52507110	G	C	snp	UTR3	*1782C>G	 	 	 	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs928169	0.523962	0	0	1	0	0	UTR3	UTR3	UTR3	ATP7B(NM_000053:c.*1782C>G,NM_001005918:c.*1782C>G,NM_001243182:c.*1782C>G)	ATP7B(uc001vfv.2:c.*1782C>G,uc010tgs.1:c.*1782C>G,uc001vfy.2:c.*1782C>G,uc010adv.2:c.*1782C>G,uc001vfw.2:c.*1782C>G,uc001vfx.2:c.*1782C>G,uc010tgt.1:c.*1782C>G,uc010tgu.1:c.*1782C>G,uc010tgv.1:c.*1782C>G)	ENSG00000123191(ENST00000242839:c.*1782C>G,ENST00000344297:c.*1782C>G,ENST00000400366:c.*1782C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	1051;63|55	Hom;G>C	2437;2|98
N	N	-	13	52511362	52511362	C	G	snp	intronic	 	 	 	 	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs9535795	0.531749	0.5728	0.5607	1	0	0	intronic	intronic	intronic	ATP7B	ATP7B	ENSG00000123191	Na	Na	Na	Na	Na	Na	Het;C>G	1336;44|54	Hom;C>G	2451;0|77
N	N	-	13	52511606	52511606	G	A	snp	intronic	 	 	 	 	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs2282057	0.501797	0.5491	0.5374	1	0	0	intronic	intronic	intronic	ATP7B	ATP7B	ENSG00000123191	Na	Na	Na	Na	Na	Na	Het;G>A	1922;90|88	Hom;G>A	4744;4|180
N	N	-	13	52515354	52515354	A	G	snp	nonsynonymous SNV	T3419C	V1140A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs1801249	0.540535	0.5776	0.5653	0.15	2	13	exonic	exonic	exonic	ATP7B	ATP7B	ENSG00000123191	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP7B:NM_000053:exon16:c.T3419C:p.V1140A,ATP7B:NM_001005918:exon12:c.T2798C:p.V933A,ATP7B:NM_001243182:exon17:c.T3086C:p.V1029A,	ATP7B:uc001vfv.2:exon9:c.T1235C:p.V412A,ATP7B:uc010tgt.1:exon15:c.T3224C:p.V1075A,ATP7B:uc001vfw.2:exon16:c.T3419C:p.V1140A,ATP7B:uc001vfy.2:exon17:c.T3086C:p.V1029A,ATP7B:uc001vfx.2:exon12:c.T2798C:p.V933A,ATP7B:uc010adv.2:exon8:c.T2129C:p.V710A,ATP7B:uc010tgs.1:exon9:c.T1052C:p.V351A,ATP7B:uc010tgv.1:exon15:c.T3185C:p.V1062A,ATP7B:uc010tgu.1:exon16:c.T3275C:p.V1092A,	UNKNOWN	Het;A>G	1305;57|60	Hom;A>G	2594;0|94
N	N	-	13	52523808	52523808	C	T	snp	nonsynonymous SNV	G2855A	R952K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs732774	0.53095	0.5717	0.5627	0.31	4	13	exonic	exonic	exonic	ATP7B	ATP7B	ENSG00000123191	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP7B:NM_000053:exon12:c.G2855A:p.R952K,ATP7B:NM_001243182:exon13:c.G2522A:p.R841K,	ATP7B:uc001vfv.2:exon5:c.G671A:p.R224K,ATP7B:uc010tgt.1:exon12:c.G2855A:p.R952K,ATP7B:uc001vfw.2:exon12:c.G2855A:p.R952K,ATP7B:uc001vfy.2:exon13:c.G2522A:p.R841K,ATP7B:uc010adv.2:exon4:c.G1565A:p.R522K,ATP7B:uc010tgs.1:exon6:c.G671A:p.R224K,ATP7B:uc010tgv.1:exon11:c.G2621A:p.R874K,ATP7B:uc010tgu.1:exon12:c.G2711A:p.R904K,	UNKNOWN	Het;C>T	730;38|35	Hom;C>T	1766;0|67
N	N	-	13	52524488	52524488	T	C	snp	nonsynonymous SNV	A2495G	K832R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs1061472	0.502396	0.5522	0.5384	0.62	8	13	exonic	exonic	exonic	ATP7B	ATP7B	ENSG00000123191	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP7B:NM_000053:exon10:c.A2495G:p.K832R,ATP7B:NM_001005918:exon7:c.A2009G:p.K670R,ATP7B:NM_001243182:exon11:c.A2162G:p.K721R,	ATP7B:uc001vfv.2:exon3:c.A311G:p.K104R,ATP7B:uc010tgt.1:exon10:c.A2495G:p.K832R,ATP7B:uc001vfw.2:exon10:c.A2495G:p.K832R,ATP7B:uc001vfy.2:exon11:c.A2162G:p.K721R,ATP7B:uc001vfx.2:exon7:c.A2009G:p.K670R,ATP7B:uc010tgs.1:exon4:c.A311G:p.K104R,ATP7B:uc010tgv.1:exon9:c.A2261G:p.K754R,ATP7B:uc010tgu.1:exon10:c.A2351G:p.K784R,	UNKNOWN	Het;T>C	2131;136|105	Hom;T>C	5334;1|190
N	N	-	13	52542796	52542796	T	G	snp	intronic	 	 	 	 	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs2147363	0.611821	0	0	1	0	0	intronic	intronic	intronic	ATP7B	ATP7B	ENSG00000123191	Na	Na	Na	Na	Na	Na	Het;T>G	784;29|31	Hom;T>G	1423;0|51
N	N	-	13	52585548	52585548	G	T	snp	UTR5	-75C>A	 	 	 	ATP7B	Atp7b	ENSG00000123191	ATPase copper transporting beta	chr13:52506809-52585630	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease	Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP7B	https://www.uniprot.org/uniprot/P35670	https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606882	http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B	rs2277448	0.516773	0.5951	0	1	0	0	UTR5	UTR5	UTR5	ATP7B(NM_000053:c.-75C>A,NM_001005918:c.-75C>A,NM_001243182:c.-75C>A)	ATP7B(uc001vfy.2:c.-75C>A,uc010adv.2:c.-75C>A,uc001vfw.2:c.-75C>A,uc001vfx.2:c.-75C>A,uc010tgt.1:c.-75C>A,uc010tgu.1:c.-75C>A,uc010tgv.1:c.-75C>A)	ENSG00000123191(ENST00000242839:c.-75C>A,ENST00000344297:c.-75C>A,ENST00000400366:c.-75C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	462;44|27	Hom;G>T	1925;2|74
N	N	-	13	52603194	52603194	G	T	snp	nonsynonymous SNV	G254T	G85V	aliphatic,neutral	aliphatic,hydrophobic,neutral	UTP14C	Utp14b	ENSG00000253797	UTP14C, small subunit processome component	chr13:52598827-52607736	UTP14c may be functionally equivalent to mouse Utp14b and required for normal male fertility in humans. The novel evolution of retroposed UTP14 genes supports the hypothesis that retrogenes play an important role in evolution via regulation of male reproductive fitness.		Homozygous males are sterile with spermatogonial arrest and elevated intratesticular testosterone levels.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030490;maturation of SSU-rRNA;IBA|GO:0042254;ribosome biogenesis;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0032040;small-subunit processome;IBA		http://www.genecards.org/index.php?path=/Search/keyword/UTP14C			https://www.ncbi.nlm.nih.gov/omim/?term=608969	http://www.informatics.jax.org/searchtool/Search.do?query=UTP14C&submit=Quick%0D%20038ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP14C	rs3742289	0.58127	0.6329	0.6478	0.08	1	13	exonic	exonic	exonic	UTP14C	UTP14C	ENSG00000253797	nonsynonymous SNV	nonsynonymous SNV	unknown	UTP14C:NM_021645:exon2:c.G254T:p.G85V,	UTP14C:uc001vgb.3:exon2:c.G254T:p.G85V,UTP14C:uc001vgc.4:exon3:c.G254T:p.G85V,UTP14C:uc021rjw.1:exon1:c.G254T:p.G85V,	UNKNOWN	Het;G>T	2141;103|100	Hom;G>T	4631;2|172
N	N	-	13	52603775	52603775	C	T	snp	synonymous SNV	C835T	L279L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	UTP14C	Utp14b	ENSG00000253797	UTP14C, small subunit processome component	chr13:52598827-52607736	UTP14c may be functionally equivalent to mouse Utp14b and required for normal male fertility in humans. The novel evolution of retroposed UTP14 genes supports the hypothesis that retrogenes play an important role in evolution via regulation of male reproductive fitness.		Homozygous males are sterile with spermatogonial arrest and elevated intratesticular testosterone levels.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030490;maturation of SSU-rRNA;IBA|GO:0042254;ribosome biogenesis;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0032040;small-subunit processome;IBA		http://www.genecards.org/index.php?path=/Search/keyword/UTP14C			https://www.ncbi.nlm.nih.gov/omim/?term=608969	http://www.informatics.jax.org/searchtool/Search.do?query=UTP14C&submit=Quick%0D%20038ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP14C	rs3742291	0.510583	0.5644	0.6288	1	0	0	exonic	exonic	exonic	UTP14C	UTP14C	ENSG00000253797	synonymous SNV	synonymous SNV	unknown	UTP14C:NM_021645:exon2:c.C835T:p.L279L,	UTP14C:uc001vgb.3:exon2:c.C835T:p.L279L,UTP14C:uc001vgc.4:exon3:c.C835T:p.L279L,UTP14C:uc021rjw.1:exon1:c.C835T:p.L279L,	UNKNOWN	Het;C>T	2104;82|99	Hom;C>T	4677;0|179
N	N	-	13	52701490	52701490	A	ACTT	indel	intronic	 	 	 	 	NEK5	Nek5	ENSG00000197168	NIMA related kinase 5	chr13:52611093-52703214			Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment.		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:2001056;positive regulation of cysteine-type endopeptidase activity;IEA		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK5			https://www.ncbi.nlm.nih.gov/omim/?term=616731	http://www.informatics.jax.org/searchtool/Search.do?query=NEK5&submit=Quick%0D%16564ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK5	rs3076657	0.63139	0.6730	0.6666	1	0	0	intronic	intronic	intronic	NEK5	NEK5	ENSG00000197168	Na	Na	Na	Na	Na	Na	Het;+CTT	1121;48|30	Hom;+CTT	2697;0|59
N	N	-	13	52701637	52701637	T	G	snp	UTR5	-19A>C	 	 	 	NEK5	Nek5	ENSG00000197168	NIMA related kinase 5	chr13:52611093-52703214			Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment.		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:2001056;positive regulation of cysteine-type endopeptidase activity;IEA		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK5			https://www.ncbi.nlm.nih.gov/omim/?term=616731	http://www.informatics.jax.org/searchtool/Search.do?query=NEK5&submit=Quick%0D%16564ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK5	rs1886544	0.523163	0.5642	0.6217	1	0	0	UTR5	UTR5	UTR5	NEK5(NM_199289:c.-19A>C)	NEK5(uc001vge.3:c.-19A>C)	ENSG00000197168(ENST00000355568:c.-19A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	858;42|40	Hom;T>G	1387;0|49
N	N	-	13	52717950	52717950	C	T	snp	intronic	 	 	 	 	NEK3	Nek3	ENSG00000136098	NIMA related kinase 3	chr13:52706775-52733996	This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]	Tobacco Use Disorder; Mental Competency	 		GO:0000278;mitotic cell cycle;NAS|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0030010;establishment of cell polarity;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051301;cell division;IEA|GO:0090043;regulation of tubulin deacetylation;IEA	GO:0005634;nucleus;NAS|GO:0005737;cytoplasm;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK3	https://www.uniprot.org/uniprot/P51956		https://www.ncbi.nlm.nih.gov/omim/?term=604044	http://www.informatics.jax.org/searchtool/Search.do?query=NEK3&submit=Quick%0D%7281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK3	rs3783242	0.515575	0	0	1	0	0	intronic	intronic	intronic	NEK3	NEK3	ENSG00000136098	Na	Na	Na	Na	Na	Na	Het;C>T	76;1|3	Hom;C>T	125;0|4
N	N	-	13	52718050	52718050	C	CT	indel	splicing	876+1G>AG	 	 	 	NEK3	Nek3	ENSG00000136098	NIMA related kinase 3	chr13:52706775-52733996	This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]	Tobacco Use Disorder; Mental Competency	 		GO:0000278;mitotic cell cycle;NAS|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0030010;establishment of cell polarity;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051301;cell division;IEA|GO:0090043;regulation of tubulin deacetylation;IEA	GO:0005634;nucleus;NAS|GO:0005737;cytoplasm;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK3	https://www.uniprot.org/uniprot/P51956		https://www.ncbi.nlm.nih.gov/omim/?term=604044	http://www.informatics.jax.org/searchtool/Search.do?query=NEK3&submit=Quick%0D%7281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK3	rs3837575	0.488019	0.5282	0.5390	1	0	0	splicing	splicing	splicing	NEK3(NM_002498:exon11:c.876+1G>AG,NM_152720:exon11:c.876+1G>AG,NM_001146099:exon11:c.876+1G>AG)	NEK3(uc001vgh.3:exon10:c.939+1G>AG,uc001vgi.3:exon12:c.874+1G>AG,uc010tgy.2:exon11:c.876+1G>AG)	ENSG00000136098(ENST00000258597:exon11:c.876+1G>AG,ENST00000378101:exon11:c.876+1G>AG,ENST00000339406:exon11:c.876+1G>AG,ENST00000548127:exon11:c.876+1G>AG,ENST00000452082:exon10:c.939+1G>AG,ENST00000400357:exon10:c.876+1G>AG,ENST00000547820:exon2:c.65+1G>AG)	Na	Na	Na	Na	Na	Na	Het;+T	623;23|26	Hom;+T	1408;0|49
N	N	-	13	52728423	52728423	G	T	snp	intronic	 	 	 	 	NEK3	Nek3	ENSG00000136098	NIMA related kinase 3	chr13:52706775-52733996	This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]	Tobacco Use Disorder; Mental Competency	 		GO:0000278;mitotic cell cycle;NAS|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0030010;establishment of cell polarity;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051301;cell division;IEA|GO:0090043;regulation of tubulin deacetylation;IEA	GO:0005634;nucleus;NAS|GO:0005737;cytoplasm;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK3	https://www.uniprot.org/uniprot/P51956		https://www.ncbi.nlm.nih.gov/omim/?term=604044	http://www.informatics.jax.org/searchtool/Search.do?query=NEK3&submit=Quick%0D%7281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK3	rs2296347	0.520966	0	0	1	0	0	intronic	intronic	intronic	NEK3	NEK3	ENSG00000136098	Na	Na	Na	Na	Na	Na	Het;G>T	32;3|2	Hom;G>T	97;0|4
N	N	-	13	52785881	52785881	C	T	snp	ncRNA_intronic	 	 	 	 	MRPS31P5																		rs1815349	0.578075	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	MRPS31P5(dist=17279),LOC103191607(dist=122549)	MRPS31P5	ENSG00000217576	Na	Na	Na	Na	Na	Na	Het;C>T	50;2|2	Hom;C>T	201;0|6
N	N	-	13	52785888	52785888	C	T	snp	ncRNA_intronic	 	 	 	 	MRPS31P5																		rs1815350	0.554712	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	MRPS31P5(dist=17286),LOC103191607(dist=122542)	MRPS31P5	ENSG00000217576	Na	Na	Na	Na	Na	Na	Het;C>T	50;2|2	Hom;C>T	152;0|4
N	N	-	13	52971893	52971893	G	A	snp	synonymous SNV	C495T	I165I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	THSD1	Thsd1	ENSG00000136114	thrombospondin type 1 domain containing 1	chr13:52951305-52980629	The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]	familial premature myocardial infarction.	 	O-glycosylation of TSR domain-containing proteins		GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/THSD1	https://www.uniprot.org/uniprot/Q9NS62		https://www.ncbi.nlm.nih.gov/omim/?term=616821	http://www.informatics.jax.org/searchtool/Search.do?query=THSD1&submit=Quick%0D%7288ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD1	rs3803264	0.58766	0.6017	0.6380	1	0	0	exonic	exonic	exonic	THSD1	THSD1	ENSG00000136114	synonymous SNV	synonymous SNV	unknown	THSD1:NM_018676:exon3:c.C495T:p.I165I,THSD1:NM_199263:exon3:c.C495T:p.I165I,	THSD1:uc001vgp.3:exon3:c.C495T:p.I165I,THSD1:uc001vgo.3:exon3:c.C495T:p.I165I,	UNKNOWN	Het;G>A	1386;59|62	Hom;G>A	3137;4|117
N	N	-	13	53071692	53071692	A	C	snp	ncRNA_intronic	 	 	 	 	TPTE2P3																		rs377122259	0.0103834	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TPTE2P3	TPTE2P3	ENSG00000198384,ENSG00000244471	Na	Na	Na	Na	Na	Na	Het;A>C	103;10|6	Hom;A>C	160;0|7
N	N	-	13	53153549	53153549	C	T	snp	ncRNA_exonic	 	 	 	 	TPTE2P3																		rs342767	0.971446	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TPTE2P3	TPTE2P3	ENSG00000198384	Na	Na	Na	Na	Na	Na	Het;C>T	793;43|39	Hom;C>T	1090;0|43
N	N	-	13	53522473	53522473	T	C	snp	intergenic	 	 	 	 	PCDH8	Pcdh8	ENSG00000136099	protocadherin 8	chr13:53418109-53422775	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]	Coronary Artery Disease	Homozygous null mice are viable and fertile, and do not exhibit any gross skeletal defects.		GO:0001756;somitogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007399;nervous system development;IBA|GO:0016331;morphogenesis of embryonic epithelium;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042734;presynaptic membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDH8	https://www.uniprot.org/uniprot/O95206		https://www.ncbi.nlm.nih.gov/omim/?term=603580	http://www.informatics.jax.org/searchtool/Search.do?query=PCDH8&submit=Quick%0D%7282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH8	rs78247302	0.0734824	0	0	1	0	0	intergenic	intergenic	intergenic	PCDH8(dist=99698),OLFM4(dist=80403)	PCDH8(dist=99698),OLFM4(dist=80403)	ENSG00000136099(dist=99698),ENSG00000102837(dist=80421)	Na	Na	Na	Na	Na	Na	Het;T>C	292;9|10	Hom;T>C	1114;0|33
N	N	-	13	55846673	55846673	T	A	snp	intergenic	 	 	 	 	MIR5007																		rs4255679	0.252796	0	0	1	0	0	intergenic	intergenic	intergenic	MIR5007(dist=97990),PRR20D(dist=1868379)	MIR5007(dist=97990),7SK(dist=1612745)	ENSG00000264387(dist=97990),ENSG00000228611(dist=726661)	Na	Na	Na	Na	Na	Na	Het;T>A	175;8|9	Hom;T>A	680;0|25
N	N	-	13	56648741	56648741	A	C	snp	intergenic	 	 	 	 	HNF4GP1																		rs183992	0.504393	0	0	1	0	0	intergenic	intergenic	intergenic	MIR5007(dist=900058),PRR20D(dist=1066311)	MIR5007(dist=900058),7SK(dist=810677)	ENSG00000228611(dist=74159),ENSG00000228319(dist=139766)	Na	Na	Na	Na	Na	Na	Het;A>C	726;68|39	Hom;A>C	3324;0|128
N	N	-	13	58982310	58982310	T	G	snp	intergenic	 	 	 	 	LINC00374																		rs9538030	0.0469249	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101926897(dist=198693),DIAPH3(dist=1257411)	TRNA_Pseudo(dist=523689),DIAPH3(dist=1257411)	ENSG00000232954(dist=175059),ENSG00000222733(dist=119479)	Na	Na	Na	Na	Na	Na	Het;T>G	105;4|5	Hom;T>G	103;0|5
N	N	-	13	59104907	59104907	T	C	snp	ncRNA_exonic	 	 	 	 	CTAGE16P																		rs4886084	0.247804	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101926897(dist=321290),DIAPH3(dist=1134814)	TRNA_Pseudo(dist=646286),DIAPH3(dist=1134814)	ENSG00000214335	Na	Na	Na	Na	Na	Na	Het;T>C	2919;92|123	Hom;T>C	6542;0|228
N	N	-	13	60848942	60848942	G	T	snp	ncRNA_exonic	 	 	 	 	TARDBPP2																		rs9563808	0.320088	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00434(dist=6704),TDRD3(dist=121649)	DIAPH3(dist=110823),TDRD3(dist=121649)	ENSG00000238213	Na	Na	Na	Na	Na	Na	Het;G>T	331;14|17	Hom;G>T	1168;0|44
N	N	-	13	60850749	60850749	T	C	snp	downstream	 	 	 	 	TARDBPP2																		rs12560657	0.368411	0	0	1	0	0	intergenic	intergenic	downstream	LINC00434(dist=8511),TDRD3(dist=119842)	DIAPH3(dist=112630),TDRD3(dist=119842)	ENSG00000238213	Na	Na	Na	Na	Na	Na	Het;T>C	749;46|39	Hom;T>C	1990;0|72
N	N	-	13	60851083	60851083	C	A	snp	downstream	 	 	 	 	TARDBPP2																		rs77425217	0.158347	0	0	1	0	0	intergenic	intergenic	downstream	LINC00434(dist=8845),TDRD3(dist=119508)	DIAPH3(dist=112964),TDRD3(dist=119508)	ENSG00000238213	Na	Na	Na	Na	Na	Na	Het;C>A	251;59|20	Hom;C>A	1922;0|68
N	N	-	13	62786731	62786731	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01075																		rs34614463	0.445288	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LINC01075	PCDH20(dist=784652),OR7E156P(dist=1524837)	ENSG00000229578(dist=183050),ENSG00000230142(dist=11499)	Na	Na	Na	Na	Na	Na	Het;A>G	77;7|3	Hom;A>G	107;0|3
N	N	-	13	63681407	63681407	G	A	snp	intergenic	 	 	 	 	LINC00448																		rs3119952	0.448083	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00448(dist=299915),LINC00376(dist=75828)	PCDH20(dist=1679328),OR7E156P(dist=630161)	ENSG00000228669(dist=374915),ENSG00000227564(dist=75827)	Na	Na	Na	Na	Na	Na	Het;G>A	390;2|14	Hom;G>A	153;0|5
N	N	-	13	66250264	66250264	A	G	snp	intergenic	 	 	 	 	STARP1																		rs9571452	0.513179	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723968(dist=1832006),MIR548X2(dist=290198)	AK057471(dist=1600120),PCDH9(dist=626702)	ENSG00000214266(dist=365179),ENSG00000236565(dist=111800)	Na	Na	Na	Na	Na	Na	Het;A>G	949;14|39	Hom;A>G	1067;0|38
N	N	-	13	68153433	68153434	AT	A	indel	intergenic	 	 	 	 	LINC00364																		rs71110671	0.467252	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00364(dist=199307),LINC00550(dist=1281983)	PCDH9(dist=348965),LINC00550(dist=1281983)	ENSG00000230040(dist=199325),ENSG00000271287(dist=211105)	Na	Na	Na	Na	Na	Na	Het;-T	790;25|34	Hom;-T	1678;0|58
N	N	-	13	68203548	68203548	T	G	snp	intergenic	 	 	 	 	LINC00364																		rs9541189	0.638578	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00364(dist=249422),LINC00550(dist=1231869)	PCDH9(dist=399080),LINC00550(dist=1231869)	ENSG00000230040(dist=249440),ENSG00000271287(dist=160991)	Na	Na	Na	Na	Na	Na	Het;T>G	55;3|3	Hom;T>G	79;0|3
N	N	-	13	68203683	68203683	C	T	snp	intergenic	 	 	 	 	LINC00364																		rs9541190	0.675519	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00364(dist=249557),LINC00550(dist=1231734)	PCDH9(dist=399215),LINC00550(dist=1231734)	ENSG00000230040(dist=249575),ENSG00000271287(dist=160856)	Na	Na	Na	Na	Na	Na	Het;C>T	271;25|16	Hom;C>T	673;0|29
N	N	-	13	68203752	68203752	G	C	snp	intergenic	 	 	 	 	LINC00364																		rs9541191	0.675519	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00364(dist=249626),LINC00550(dist=1231665)	PCDH9(dist=399284),LINC00550(dist=1231665)	ENSG00000230040(dist=249644),ENSG00000271287(dist=160787)	Na	Na	Na	Na	Na	Na	Het;G>C	191;22|10	Hom;G>C	955;0|34
N	N	-	13	69003693	69003693	G	A	snp	intergenic	 	 	 	 	RPL37P21																		rs7322936	0.575479	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00364(dist=1049567),LINC00550(dist=431724)	PCDH9(dist=1199225),LINC00550(dist=431724)	ENSG00000236433(dist=97948),ENSG00000230405(dist=204629)	Na	Na	Na	Na	Na	Na	Het;G>A	358;74|27	Hom;G>A	2333;1|91
N	N	-	13	69003793	69003793	A	G	snp	intergenic	 	 	 	 	RPL37P21																		rs11618045	0.564896	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00364(dist=1049667),LINC00550(dist=431624)	PCDH9(dist=1199325),LINC00550(dist=431624)	ENSG00000236433(dist=98048),ENSG00000230405(dist=204529)	Na	Na	Na	Na	Na	Na	Het;A>G	114;27|7	Hom;A>G	1161;0|38
N	N	-	13	70550028	70550028	T	A	snp	intronic	 	 	 	 	KLHL1	Klhl1	ENSG00000150361	kelch like family member 1	chr13:70274726-70682591	The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]	Tobacco Use Disorder; Heart Rate; Bilirubin; Body Height; Cholesterol, HDL; Hip; Forced Vital Capacity; HIV Infections|[X]Human immunodeficiency virus disease	Mice both homozygous and heterozygous for disruption of this gene develop abnormalities in gait and defects in motor coordination with time.  Dendritic atrophy of Purkinje cells is also seen.		GO:0007626;locomotory behavior;IEA|GO:0007628;adult walking behavior;IEA|GO:0016358;dendrite development;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0030036;actin cytoskeleton organization;NAS	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0030425;dendrite;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA|GO:0043025;neuronal cell body;IEA	GO:0003779;actin binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL1	https://www.uniprot.org/uniprot/Q9NR64		https://www.ncbi.nlm.nih.gov/omim/?term=605332	http://www.informatics.jax.org/searchtool/Search.do?query=KLHL1&submit=Quick%0D%9312ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL1	rs9542143	0.384185	0	0	1	0	0	intronic	intronic	intronic	KLHL1	KLHL1	ENSG00000150361	Na	Na	Na	Na	Na	Na	Het;T>A	87;4|5	Hom;T>A	109;0|4
N	N	-	13	71263936	71263936	C	CATCT	indel	intergenic	 	 	 	 	RNU6-54P																		rs144163077	0.457468	0	0	1	0	0	intergenic	intergenic	intergenic	ATXN8OS(dist=550051),LINC00348(dist=325337)	ATXN8OS(dist=550051),Y_RNA(dist=11927)	ENSG00000202433(dist=230234),ENSG00000226554(dist=233860)	Na	Na	Na	Na	Na	Na	Het;+ATCT	464;1|12	Hom;+ATCT	412;0|10
N	N	-	13	71942456	71942457	CA	C	indel	intergenic	 	 	 	 	RABEPKP1																		rs398023327	0.53155	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00348(dist=199907),DACH1(dist=69641)	LINC00348(dist=199907),DACH1(dist=69641)	ENSG00000225801(dist=71089),ENSG00000165659(dist=69641)	Na	Na	Na	Na	Na	Na	Het;-A	45;4|5	Hom;-A	50;0|4
N	N	-	13	72306046	72306046	T	C	snp	intronic	 	 	 	 	DACH1	Dach1	ENSG00000276644	dachshund family transcription factor 1	chr13:72012098-72441330	This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	CD40 Ligand; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Cystatin C; Anticonvulsants; Chronic renal failure|Kidney Failure, Chronic	In spite of normal gross morphology, mice homozygous for targeted mutations that inactivate this gene die within 1 day of birth.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001967;suckling behavior;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0008283;cell proliferation;IEA|GO:0010944;negative regulation of transcription by competitive promoter binding;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0046545;development of primary female sexual characteristics;IEA|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0051123;RNA polymerase II transcriptional preinitiation complex assembly;IEA|GO:0060244;negative regulation of cell proliferation involved in contact inhibition;IEA|GO:2000279;negative regulation of DNA biosynthetic process;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001075;transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DACH1			https://www.ncbi.nlm.nih.gov/omim/?term=603803	http://www.informatics.jax.org/searchtool/Search.do?query=DACH1&submit=Quick%0D%21660ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACH1	rs9542739	0.427716	0	0	1	0	0	intronic	intronic	intronic	DACH1	DACH1	ENSG00000165659	Na	Na	Na	Na	Na	Na	Het;T>C	134;15|9	Hom;T>C	696;0|28
N	N	-	13	72541105	72541105	T	A	snp	intergenic	 	 	 	 	RPS10P21																		rs2325433	0.726038	0	0	1	0	0	intergenic	intergenic	intergenic	DACH1(dist=99775),MZT1(dist=741390)	DACH1(dist=99775),SNORD37(dist=486935)	ENSG00000232881(dist=52789),ENSG00000200037(dist=11121)	Na	Na	Na	Na	Na	Na	Het;T>A	76;3|3	Hom;T>A	388;0|10
N	N	-	13	72541120	72541120	G	A	snp	intergenic	 	 	 	 	RPS10P21																		rs7994296	0.63139	0	0	1	0	0	intergenic	intergenic	intergenic	DACH1(dist=99790),MZT1(dist=741375)	DACH1(dist=99790),SNORD37(dist=486920)	ENSG00000232881(dist=52804),ENSG00000200037(dist=11106)	Na	Na	Na	Na	Na	Na	Het;G>A	47;3|2	Hom;G>A	287;0|7
N	N	-	13	73190794	73190794	G	A	snp	intergenic	 	 	 	 	SNORA9																		rs10507808	0.424521	0	0	1	0	0	intergenic	intergenic	intergenic	DACH1(dist=749464),MZT1(dist=91701)	SNORA9(dist=29846),MZT1(dist=91701)	ENSG00000199282(dist=29846),ENSG00000226617(dist=87037)	Na	Na	Na	Na	Na	Na	Het;G>A	70;1|3	Hom;G>A	94;0|4
N	N	-	13	73329358	73329358	G	A	snp	UTR3	*4G>A	 	 	 	BORA	Bora	ENSG00000136122	bora, aurora kinase A activator	chr13:73302061-73330336	BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]	Apolipoproteins E; Body Mass Index; Cholesterol, HDL; Blood Flow Velocity	 	Regulation of PLK1 Activity at G2/M Transition	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007088;regulation of mitotic nuclear division;IMP|GO:0032880;regulation of protein localization;IMP|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;IMP	GO:0005829;cytosol;TAS|GO:0072687;meiotic spindle;IEA	GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BORA	https://www.uniprot.org/uniprot/Q6PGQ7		https://www.ncbi.nlm.nih.gov/omim/?term=610510	http://www.informatics.jax.org/searchtool/Search.do?query=BORA&submit=Quick%0D%7289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BORA	rs10887	0.769369	0.7454	0.7361	1	0	0	UTR3	UTR3	UTR3	BORA(NM_024808:c.*4G>A,NM_001286747:c.*4G>A,NM_001286746:c.*4G>A)	BORA(uc001viv.1:c.*4G>A,uc010aen.1:c.*4G>A,uc010thr.1:c.*4G>A)	ENSG00000136122(ENST00000377815:c.*4G>A,ENST00000390667:c.*4G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	948;64|50	Hom;G>A	2718;0|102
N	N	-	13	73343039	73343039	C	T	snp	synonymous SNV	G1767A	T589T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DIS3	Dis3	ENSG00000083520	DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease	chr13:73329540-73356234			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;IEA|GO:0016075;rRNA catabolic process;IMP|GO:0043488;regulation of mRNA stability;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0071034;CUT catabolic process;IMP|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0000176;nuclear exosome (RNase complex);IDA|GO:0000178;exosome (RNase complex);IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DIS3	https://www.uniprot.org/uniprot/Q9Y2L1		https://www.ncbi.nlm.nih.gov/omim/?term=607533	http://www.informatics.jax.org/searchtool/Search.do?query=DIS3&submit=Quick%0D%1829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DIS3	rs2196979	0.770168	0.7476	0.7373	1	0	0	exonic	exonic	exonic	DIS3	DIS3	ENSG00000083520	synonymous SNV	synonymous SNV	unknown	DIS3:NM_001128226:exon14:c.G1677A:p.T559T,DIS3:NM_014953:exon14:c.G1767A:p.T589T,	DIS3:uc001vix.4:exon14:c.G1767A:p.T589T,DIS3:uc001viy.4:exon14:c.G1677A:p.T559T,	UNKNOWN	Het;C>T	642;30|32	Hom;C>T	1694;0|63
N	N	-	13	73638125	73638125	G	T	snp	intronic	 	 	 	 	KLF5	Klf5	ENSG00000102554	Kruppel like factor 5	chr13:73629114-73651676	This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]	Alzheimer's disease ; Type 2 diabetes; plasma HDL cholesterol (HDL-C) levels; pancreatic cancer; diabetes, type 2; E-Selectin; Schizophrenia; hypertension	Homozygous null mice die during gestation, while heterozygotes exhibit abnormal cardiovascular remodeling after external stress. Mice homozygous for a floxed allele activated in the prostate exhibit increased cell proliferation and hyperplasia in the prostate without neoplasia.	Transcriptional regulation of white adipocyte differentiation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030033;microvillus assembly;IEA|GO:0032534;regulation of microvillus assembly;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0060576;intestinal epithelial cell development;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:1901653;cellular response to peptide;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF5	https://www.uniprot.org/uniprot/Q13887		https://www.ncbi.nlm.nih.gov/omim/?term=602903	http://www.informatics.jax.org/searchtool/Search.do?query=KLF5&submit=Quick%0D%2892ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF5	rs4885061	0.839257	0	0	1	0	0	intronic	intronic	intronic	KLF5	KLF5	ENSG00000102554	Na	Na	Na	Na	Na	Na	Het;G>T	98;3|5	Hom;G>T	408;0|13
N	N	-	13	76335196	76335198	GAT	G	indel	ncRNA_intronic	 	 	 	 	AL137782.1																		rs10594987	0.690096	0	0.6504	1	0	0	intronic	intronic	ncRNA_intronic	LMO7	LMO7	ENSG00000261553	Na	Na	Na	Na	Na	Na	Het;-AT	1006;3|32	Hom;-AT	262;0|8
N	N	-	13	76445316	76445316	C	T	snp	synonymous SNV	C54T	S18S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C13orf45																		rs9600567	0.470847	0	0.5696	1	0	0	exonic	exonic	exonic	LMO7DN	C13orf45	ENSG00000178734	synonymous SNV	synonymous SNV	unknown	LMO7DN:NM_001257995:exon1:c.C54T:p.S18S,	C13orf45:uc001vjy.2:exon1:c.C54T:p.S18S,	UNKNOWN	Het;C>T	774;56|44	Hom;C>T	2906;0|112
N	N	-	13	76557184	76557189	TTTTTA	T	indel	intergenic	 	 	 	 	LINC00561																		rs148463005	0.426118	0	0	1	0	0	intergenic	intergenic	intergenic	LMO7DN(dist=99236),KCTD12(dist=897115)	C13orf45(dist=99236),KCTD12(dist=897115)	ENSG00000261206(dist=47916),ENSG00000224933(dist=29970)	Na	Na	Na	Na	Na	Na	Het;-TTTTA	894;34|26	Hom;-TTTTA	3164;0|74
N	N	-	13	77739291	77739291	A	T	snp	intronic	 	 	 	 	MYCBP2	Mycbp2	ENSG00000005810	MYC binding protein 2, E3 ubiquitin protein ligase	chr13:77618792-77901185		Celiac Disease|; Uric Acid	Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016567;protein ubiquitination;IEA	GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYCBP2	https://www.uniprot.org/uniprot/O75592		https://www.ncbi.nlm.nih.gov/omim/?term=610392	http://www.informatics.jax.org/searchtool/Search.do?query=MYCBP2&submit=Quick%0D%372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYCBP2	rs9318468	0.659744	0	0	1	0	0	intronic	intronic	intronic	MYCBP2	MYCBP2	ENSG00000005810	Na	Na	Na	Na	Na	Na	Het;A>T	65;4|3	Hom;A>T	400;0|13
N	N	-	13	77751892	77751892	C	T	snp	synonymous SNV	G5331A	L1777L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MYCBP2	Mycbp2	ENSG00000005810	MYC binding protein 2, E3 ubiquitin protein ligase	chr13:77618792-77901185		Celiac Disease|; Uric Acid	Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016567;protein ubiquitination;IEA	GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYCBP2	https://www.uniprot.org/uniprot/O75592		https://www.ncbi.nlm.nih.gov/omim/?term=610392	http://www.informatics.jax.org/searchtool/Search.do?query=MYCBP2&submit=Quick%0D%372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYCBP2	rs4885445	0.55611	0.6226	0.6894	1	0	0	exonic	exonic	exonic	MYCBP2	MYCBP2	ENSG00000005810	synonymous SNV	synonymous SNV	unknown	MYCBP2:NM_015057:exon35:c.G5331A:p.L1777L,	MYCBP2:uc021rks.1:exon35:c.G5331A:p.L1777L,MYCBP2:uc010aev.3:exon35:c.G3429A:p.L1143L,	UNKNOWN	Het;C>T	1089;44|46	Hom;C>T	2554;0|86
N	N	-	13	77835520	77835520	T	TA	indel	intronic	 	 	 	 	MYCBP2	Mycbp2	ENSG00000005810	MYC binding protein 2, E3 ubiquitin protein ligase	chr13:77618792-77901185		Celiac Disease|; Uric Acid	Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016567;protein ubiquitination;IEA	GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYCBP2	https://www.uniprot.org/uniprot/O75592		https://www.ncbi.nlm.nih.gov/omim/?term=610392	http://www.informatics.jax.org/searchtool/Search.do?query=MYCBP2&submit=Quick%0D%372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYCBP2	rs11436373	0.535144	0.6317	0.5348	1	0	0	intronic	intronic	intronic	MYCBP2	MYCBP2	ENSG00000005810	Na	Na	Na	Na	Na	Na	Het;+A	454;42|29	Hom;+A	1629;3|66
N	N	-	13	78050998	78050998	T	C	snp	intergenic	 	 	 	 	MYCBP2	Mycbp2	ENSG00000005810	MYC binding protein 2, E3 ubiquitin protein ligase	chr13:77618792-77901185		Celiac Disease|; Uric Acid	Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016567;protein ubiquitination;IEA	GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYCBP2	https://www.uniprot.org/uniprot/O75592		https://www.ncbi.nlm.nih.gov/omim/?term=610392	http://www.informatics.jax.org/searchtool/Search.do?query=MYCBP2&submit=Quick%0D%372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYCBP2	rs9530663	0.364617	0	0	1	0	0	intergenic	intergenic	intergenic	MYCBP2(dist=149821),SCEL(dist=58811)	MYCBP2(dist=149821),SCEL(dist=58811)	ENSG00000005810(dist=149819),ENSG00000136155(dist=58811)	Na	Na	Na	Na	Na	Na	Het;T>C	262;10|10	Hom;T>C	148;0|5
N	N	-	13	78134086	78134086	C	T	snp	intronic	 	 	 	 	SCEL	Scel	ENSG00000136155	sciellin	chr13:78109809-78219398	The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Body Weights and Measures; Blood Flow Velocity	Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function.		GO:0008544;epidermis development;ISS|GO:0009790;embryo development;ISS|GO:0030216;keratinocyte differentiation;IDA	GO:0001533;cornified envelope;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCEL	https://www.uniprot.org/uniprot/O95171		https://www.ncbi.nlm.nih.gov/omim/?term=604112	http://www.informatics.jax.org/searchtool/Search.do?query=SCEL&submit=Quick%0D%7297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCEL	rs3742242	0.19389	0	0	1	0	0	intronic	intronic	intronic	SCEL	SCEL	ENSG00000136155	Na	Na	Na	Na	Na	Na	Het;C>T	203;15|10	Hom;C>T	1025;0|37
N	N	-	13	78178550	78178550	G	A	snp	nonsynonymous SNV	G1097A	R366K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SCEL	Scel	ENSG00000136155	sciellin	chr13:78109809-78219398	The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Body Weights and Measures; Blood Flow Velocity	Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function.		GO:0008544;epidermis development;ISS|GO:0009790;embryo development;ISS|GO:0030216;keratinocyte differentiation;IDA	GO:0001533;cornified envelope;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCEL	https://www.uniprot.org/uniprot/O95171		https://www.ncbi.nlm.nih.gov/omim/?term=604112	http://www.informatics.jax.org/searchtool/Search.do?query=SCEL&submit=Quick%0D%7297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCEL	rs2274016	0.235224	0.0984	0.1459	0.62	8	13	exonic	exonic	exonic	SCEL	SCEL	ENSG00000136155	nonsynonymous SNV	nonsynonymous SNV	unknown	SCEL:NM_003843:exon18:c.G1097A:p.R366K,SCEL:NM_144777:exon19:c.G1157A:p.R386K,	SCEL:uc001vki.3:exon19:c.G1157A:p.R386K,SCEL:uc001vkj.3:exon18:c.G1097A:p.R366K,	UNKNOWN	Het;G>A	1382;92|69	Hom;G>A	3315;1|123
N	N	-	13	78408655	78408655	A	G	snp	ncRNA_exonic	 	 	 	 	EDNRB-AS1																		rs686365	0.35643	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	EDNRB-AS1	BC031243	ENSG00000225579	Na	Na	Na	Na	Na	Na	Het;A>G	2765;140|127	Hom;A>G	8361;2|296
N	N	-	13	79483491	79483491	G	T	snp	ncRNA_exonic	 	 	 	 	CCT5P2																		rs1111837	0.953874	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00331(dist=69306),RBM26(dist=409512)	HH834010(dist=41218),HH834010(dist=361776)	ENSG00000230584	Na	Na	Na	Na	Na	Na	Het;G>T	113;4|6	Hom;G>T	313;0|12
N	N	-	13	79483603	79483603	C	T	snp	ncRNA_exonic	 	 	 	 	CCT5P2																		rs7981145	0.941094	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00331(dist=69418),RBM26(dist=409400)	HH834010(dist=41330),HH834010(dist=361664)	ENSG00000230584	Na	Na	Na	Na	Na	Na	Het;C>T	170;10|8	Hom;C>T	305;0|13
N	N	-	13	79483726	79483726	G	T	snp	ncRNA_exonic	 	 	 	 	CCT5P2																		rs7981758	0.977236	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00331(dist=69541),RBM26(dist=409277)	HH834010(dist=41453),HH834010(dist=361541)	ENSG00000230584	Na	Na	Na	Na	Na	Na	Het;G>T	135;4|6	Hom;G>T	453;0|17
N	N	-	13	79502931	79502932	TC	T	indel	intergenic	 	 	 	 	CCT5P2																		rs398023589	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00331(dist=88746),RBM26(dist=390071)	HH834010(dist=60658),HH834010(dist=342335)	ENSG00000230584(dist=18254),ENSG00000236277(dist=161986)	Na	Na	Na	Na	Na	Na	Het;-C	88;1|5	Hom;-C	230;0|10
N	N	-	13	79740796	79740796	T	C	snp	ncRNA_exonic	 	 	 	 	BCAS2P3																		rs1411315	0.847244	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00331(dist=326611),RBM26(dist=152207)	HH834010(dist=298523),HH834010(dist=104471)	ENSG00000226670	Na	Na	Na	Na	Na	Na	Het;T>C	33;5|3	Hom;T>C	218;0|7
N	N	-	13	80051850	80051850	C	T	snp	ncRNA_intronic	 	 	 	 	NDFIP2-AS1																		rs7338530	0.73123	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	NDFIP2-AS1	NDFIP2-AS1	ENSG00000232132	Na	Na	Na	Na	Na	Na	Het;C>T	296;15|13	Hom;C>T	846;0|26
N	N	-	13	82000776	82000776	T	C	snp	intergenic	 	 	 	 	AL353633.1																		rs9545685	0.184305	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00564(dist=199658),NONE(dist=NONE)	SPRY2(dist=1085690),NONE(dist=NONE)	ENSG00000229309(dist=124234),ENSG00000214182(dist=263270)	Na	Na	Na	Na	Na	Na	Het;T>C	199;14|10	Hom;T>C	306;0|11
N	N	-	13	82264343	82264343	A	G	snp	ncRNA_exonic	 	 	 	 	PTMAP5																		rs7326041	0.626997	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00564(dist=463225),NONE(dist=NONE)	SPRY2(dist=1349257),NONE(dist=NONE)	ENSG00000214182	Na	Na	Na	Na	Na	Na	Het;A>G	40;14|3	Hom;A>G	619;0|18
N	N	-	13	82400741	82400741	A	T	snp	intergenic	 	 	 	 	PTMAP5																		rs7997073	0.588658	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00564(dist=599623),NONE(dist=NONE)	SPRY2(dist=1485655),NONE(dist=NONE)	ENSG00000214182(dist=135534),ENSG00000237099(dist=996525)	Na	Na	Na	Na	Na	Na	Het;A>T	433;42|18	Hom;A>T	2681;0|69
N	N	-	13	82600414	82600415	CT	C	indel	intergenic	 	 	 	 	PTMAP5																		rs139136827	0.230232	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00564(dist=799296),SLITRK1(dist=1850925)	SPRY2(dist=1685328),SLITRK1(dist=1850928)	ENSG00000214182(dist=335207),ENSG00000237099(dist=796851)	Na	Na	Na	Na	Na	Na	Het;-T	379;6|21	Hom;-T	672;4|36
N	N	-	13	83550548	83550548	A	C	snp	intergenic	 	 	 	 	GYG1P2																		rs2807432	0.571486	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00564(dist=1749430),SLITRK1(dist=900792)	NONE(dist=NONE),SLITRK1(dist=900795)	ENSG00000237099(dist=152277),ENSG00000270400(dist=169127)	Na	Na	Na	Na	Na	Na	Het;A>C	269;5|10	Hom;A>C	189;0|6
N	N	-	13	83600572	83600572	C	T	snp	intergenic	 	 	 	 	GYG1P2																		rs1586890	0.175519	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00564(dist=1799454),SLITRK1(dist=850768)	NONE(dist=NONE),SLITRK1(dist=850771)	ENSG00000237099(dist=202301),ENSG00000270400(dist=119103)	Na	Na	Na	Na	Na	Na	Het;C>T	32;6|3	Hom;C>T	219;0|10
N	N	-	13	86570779	86570779	C	T	snp	intergenic	 	 	 	 	MOB1AP1																		rs7330938	0.372604	0	0	1	0	0	intergenic	intergenic	intergenic	SLITRK6(dist=197296),MIR4500HG(dist=1525463)	SLITRK6(dist=197296),MIR4500HG(dist=1525463)	ENSG00000228241(dist=27111),ENSG00000232252(dist=64169)	Na	Na	Na	Na	Na	Na	Het;C>T	131;2|7	Hom;C>T	275;0|10
N	N	-	13	87420687	87420687	A	ATTAT	indel	intergenic	 	 	 	 	TXNL1P1																		rs373718826	0	0	0	1	0	0	intergenic	intergenic	intergenic	SLITRK6(dist=1047204),MIR4500HG(dist=675555)	SLITRK6(dist=1047204),MIR4500HG(dist=675555)	ENSG00000231879(dist=42379),ENSG00000233528(dist=143486)	Na	Na	Na	Na	Na	Na	Het;+TTAT	275;1|8	Hom;+TTAT	166;0|5
N	N	-	13	87638944	87638944	C	T	snp	intergenic	 	 	 	 	LINC00430																		rs7986837	0.575879	0	0	1	0	0	intergenic	intergenic	intergenic	SLITRK6(dist=1265461),MIR4500HG(dist=457298)	SLITRK6(dist=1265461),MIR4500HG(dist=457298)	ENSG00000233528(dist=49673),ENSG00000228074(dist=232315)	Na	Na	Na	Na	Na	Na	Het;C>T	102;6|5	Hom;C>T	406;0|14
N	N	-	13	87639040	87639040	T	C	snp	intergenic	 	 	 	 	LINC00430																		rs8001277	0.497404	0	0	1	0	0	intergenic	intergenic	intergenic	SLITRK6(dist=1265557),MIR4500HG(dist=457202)	SLITRK6(dist=1265557),MIR4500HG(dist=457202)	ENSG00000233528(dist=49769),ENSG00000228074(dist=232219)	Na	Na	Na	Na	Na	Na	Het;T>C	840;17|39	Hom;T>C	1429;0|54
N	N	-	13	87738945	87738945	G	A	snp	intergenic	 	 	 	 	LINC00430																		rs61481973	0.405751	0	0	1	0	0	intergenic	intergenic	intergenic	SLITRK6(dist=1365462),MIR4500HG(dist=357297)	SLITRK6(dist=1365462),MIR4500HG(dist=357297)	ENSG00000233528(dist=149674),ENSG00000228074(dist=132314)	Na	Na	Na	Na	Na	Na	Het;G>A	361;25|19	Hom;G>A	1649;0|63
N	N	-	13	88038982	88038982	A	T	snp	intergenic	 	 	 	 	LIN28AP2																		rs7991268	0.447284	0	0	1	0	0	intergenic	intergenic	intergenic	SLITRK6(dist=1665499),MIR4500HG(dist=57260)	SLITRK6(dist=1665499),MIR4500HG(dist=57260)	ENSG00000228473(dist=6469),ENSG00000232636(dist=40473)	Na	Na	Na	Na	Na	Na	Het;A>T	178;12|6	Hom;A>T	737;0|17
N	N	-	13	88038983	88038983	A	C	snp	intergenic	 	 	 	 	LIN28AP2																		rs7991269	0.447284	0	0	1	0	0	intergenic	intergenic	intergenic	SLITRK6(dist=1665500),MIR4500HG(dist=57259)	SLITRK6(dist=1665500),MIR4500HG(dist=57259)	ENSG00000228473(dist=6470),ENSG00000232636(dist=40472)	Na	Na	Na	Na	Na	Na	Het;A>C	178;12|5	Hom;A>C	737;0|17
N	N	-	13	89279579	89279579	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00560																		rs61961133	0.750998	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00433(dist=81815),LINC00440(dist=607966)	LINC00433(dist=81815),LINC00353(dist=921469)	ENSG00000261666	Na	Na	Na	Na	Na	Na	Het;G>A	729;3|25	Hom;G>A	1019;2|31
N	N	-	13	89279581	89279581	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00560																		rs61961134	0.750998	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00433(dist=81817),LINC00440(dist=607964)	LINC00433(dist=81817),LINC00353(dist=921467)	ENSG00000261666	Na	Na	Na	Na	Na	Na	Het;A>G	729;2|25	Hom;A>G	1018;2|31
N	N	-	13	89279590	89279590	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00560																		rs57423476	0.578674	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00433(dist=81826),LINC00440(dist=607955)	LINC00433(dist=81826),LINC00353(dist=921458)	ENSG00000261666	Na	Na	Na	Na	Na	Na	Het;C>A	734;2|25	Hom;C>A	1018;2|31
N	N	-	13	90366587	90366587	T	A	snp	intergenic	 	 	 	 	LINC00353																		rs9522654	0.380192	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00353(dist=149920),LINC00559(dist=345914)	LINC00353(dist=149920),LINC00559(dist=345914)	ENSG00000236176(dist=160529),ENSG00000234227(dist=118824)	Na	Na	Na	Na	Na	Na	Het;T>A	273;14|14	Hom;T>A	395;0|14
N	N	-	13	90366627	90366627	A	G	snp	intergenic	 	 	 	 	LINC00353																		rs9515607	0.380192	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00353(dist=149960),LINC00559(dist=345874)	LINC00353(dist=149960),LINC00559(dist=345874)	ENSG00000236176(dist=160569),ENSG00000234227(dist=118784)	Na	Na	Na	Na	Na	Na	Het;A>G	336;19|17	Hom;A>G	1015;0|38
N	N	-	13	90416522	90416522	G	A	snp	intergenic	 	 	 	 	LINC00353																		rs9515617	0.308906	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00353(dist=199855),LINC00559(dist=295979)	LINC00353(dist=199855),LINC00559(dist=295979)	ENSG00000236176(dist=210464),ENSG00000234227(dist=68889)	Na	Na	Na	Na	Na	Na	Het;G>A	201;10|8	Hom;G>A	387;0|13
N	N	-	13	91187654	91187662	AAAATAATC	A	indel	downstream	 	 	 	 	LINC01049																		rs112110843	0.186302	0	0	1	0	0	downstream	downstream	downstream	LINC01049	BC038529	ENSG00000234384	Na	Na	Na	Na	Na	Na	Het;-AAATAATC	220;10|7	Hom;-AAATAATC	1121;0|26
N	N	-	13	92150929	92150929	G	A	snp	intronic	 	 	 	 	GPC5	Gpc5	ENSG00000179399	glypican 5	chr13:92050929-93519490	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; lung cancer ; Glucose; height; HIV-1; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; Multiple Sclerosis, Relapsing-Remitting|Recurrence; Monocyte Chemoattractant Protein-1; Coronary Artery Disease; multiple sclerosis; Body Mass Index; Stroke; kidney aging; Lung Neoplasms; lung cancer; hair thickness; Cholesterol, HDL; serum metabolites; Platelet Aggregation; Hip; Body Weight; Echocardiography; Colitis, Ulcerative|Crohn Disease|; Mental Competency; Crohn Disease|Crohn's disease; Docosahexaenoic Acids; Nephrotic Syndrome	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS	GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC5			https://www.ncbi.nlm.nih.gov/omim/?term=602446	http://www.informatics.jax.org/searchtool/Search.do?query=GPC5&submit=Quick%0D%14336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC5	rs494371	0.449681	0	0	1	0	0	intronic	intronic	intronic	GPC5	GPC5	ENSG00000179399	Na	Na	Na	Na	Na	Na	Het;G>A	455;28|22	Hom;G>A	1436;0|57
N	N	-	13	92610004	92610004	T	G	snp	intronic	 	 	 	 	GPC5	Gpc5	ENSG00000179399	glypican 5	chr13:92050929-93519490	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; lung cancer ; Glucose; height; HIV-1; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; Multiple Sclerosis, Relapsing-Remitting|Recurrence; Monocyte Chemoattractant Protein-1; Coronary Artery Disease; multiple sclerosis; Body Mass Index; Stroke; kidney aging; Lung Neoplasms; lung cancer; hair thickness; Cholesterol, HDL; serum metabolites; Platelet Aggregation; Hip; Body Weight; Echocardiography; Colitis, Ulcerative|Crohn Disease|; Mental Competency; Crohn Disease|Crohn's disease; Docosahexaenoic Acids; Nephrotic Syndrome	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS	GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC5			https://www.ncbi.nlm.nih.gov/omim/?term=602446	http://www.informatics.jax.org/searchtool/Search.do?query=GPC5&submit=Quick%0D%14336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC5	rs1411516	0.671126	0	0	1	0	0	intronic	intronic	intronic	GPC5	GPC5	ENSG00000179399	Na	Na	Na	Na	Na	Na	Het;T>G	274;25|16	Hom;T>G	1298;0|48
N	N	-	13	93054579	93054579	G	A	snp	intronic	 	 	 	 	GPC5	Gpc5	ENSG00000179399	glypican 5	chr13:92050929-93519490	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; lung cancer ; Glucose; height; HIV-1; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; Multiple Sclerosis, Relapsing-Remitting|Recurrence; Monocyte Chemoattractant Protein-1; Coronary Artery Disease; multiple sclerosis; Body Mass Index; Stroke; kidney aging; Lung Neoplasms; lung cancer; hair thickness; Cholesterol, HDL; serum metabolites; Platelet Aggregation; Hip; Body Weight; Echocardiography; Colitis, Ulcerative|Crohn Disease|; Mental Competency; Crohn Disease|Crohn's disease; Docosahexaenoic Acids; Nephrotic Syndrome	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS	GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC5			https://www.ncbi.nlm.nih.gov/omim/?term=602446	http://www.informatics.jax.org/searchtool/Search.do?query=GPC5&submit=Quick%0D%14336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC5	rs4142024	0.5623	0	0	1	0	0	intronic	intronic	intronic	GPC5	GPC5	ENSG00000179399	Na	Na	Na	Na	Na	Na	Het;G>A	423;24|22	Hom;G>A	743;0|29
N	N	-	13	95055795	95055795	G	GT	indel	UTR3	*324G>GT	 	 	 	GPC6	Gpc6	ENSG00000183098	glypican 6	chr13:93879095-95059655	The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. [provided by RefSeq, Jan 2009]	Memory; multiple sclerosis; ADHD | attention-deficit hyperactivity disorder; Hemoglobins; Monocytes; tonometry; Platelet Count; Hematocrit; Leukocyte Count; Waist-Hip Ratio; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Blood Pressure; Obesity; Erythrocytes; Neurotic Disorders; kidney aging; neuroticism; Lipoproteins, LDL	Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, short long bones, small skull, small snout, cleft palate and decreased chondrocyte proliferation.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0016477;cell migration;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS	GO:0043395;heparan sulfate proteoglycan binding;IEA|GO:1904929;coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway;NAS	http://www.genecards.org/index.php?path=/Search/keyword/GPC6		https://hpo.jax.org/app/browse/search?q=GPC6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604404	http://www.informatics.jax.org/searchtool/Search.do?query=GPC6&submit=Quick%0D%14922ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC6	rs35614368	0.460463	0	0	1	0	0	UTR3	UTR3	UTR3	GPC6(NM_005708:c.*324G>GT)	GPC6(uc001vlt.3:c.*324G>GT)	ENSG00000183098(ENST00000377047:c.*324G>GT)	Na	Na	Na	Na	Na	Na	Het;+T	464;22|26	Hom;+T	742;0|30
N	N	-	13	95358322	95358326	TATTC	T	indel	ncRNA_intronic	 	 	 	 	LOC101927248																		rs3831033	0	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC101927248	5S_rRNA(dist=54539),SOX21(dist=3553)	ENSG00000238230(dist=3206),ENSG00000125285(dist=3560)	Na	Na	Na	Na	Na	Na	Het;-ATTC	440;9|12	Hom;-ATTC	859;0|20
N	N	-	13	95365145	95365145	T	G	snp	ncRNA_exonic	 	 	 	 	SOX21-AS1																		rs9301991	0.761382	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SOX21-AS1	AK055459	ENSG00000227640	Na	Na	Na	Na	Na	Na	Het;T>G	1004;38|49	Hom;T>G	1677;0|62
N	N	-	13	95367945	95367945	T	C	snp	ncRNA_exonic	 	 	 	 	SOX21-AS1																		rs11617760	0.167332	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SOX21-AS1	AK055459	ENSG00000227640	Na	Na	Na	Na	Na	Na	Het;T>C	985;72|44	Hom;T>C	3507;3|124
N	N	-	13	95466801	95466801	T	C	snp	ncRNA_intronic	 	 	 	 	BC045767																		rs9556419	0.28754	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101927284	BC045767	ENSG00000237924(dist=53532),ENSG00000260962(dist=145494)	Na	Na	Na	Na	Na	Na	Het;T>C	333;15|18	Hom;T>C	639;0|21
N	N	-	13	95673939	95673939	A	G	snp	intronic	 	 	 	 	ABCC4	Abcc4	ENSG00000125257	ATP binding cassette subfamily C member 4	chr13:95672083-95953687	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]	Longevity; lung cancer ; lung cancer; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; chronic obstructive pulmonary disease; HIV Infections|Kidney Failure; pharmacogenetic studies; Breast cancer; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Count; bladder cancer; Breath Tests; Tobacco Use Disorder; Lipoproteins, VLDL; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Platelet Count; Diabetic Nephropathies; kidney disease; Adenocarcinoma|Pancreatic Neoplasms	Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology.	ABC-family proteins mediated transport	GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0008150;biological_process;ND|GO:0010033;response to organic substance;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0032310;prostaglandin secretion;IDA|GO:0042493;response to drug;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0055085;transmembrane transport;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0060271;cilium assembly;IMP|GO:0099131;ATP hydrolysis coupled ion transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031088;platelet dense granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0015662;ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism;TAS|GO:0016404;15-hydroxyprostaglandin dehydrogenase (NAD+) activity;NAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC4	https://www.uniprot.org/uniprot/O15439		https://www.ncbi.nlm.nih.gov/omim/?term=605250	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC4&submit=Quick%0D%5752ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC4	rs9524765	0.929513	0.9316	0.9490	1	0	0	intronic	intronic	intronic	ABCC4	ABCC4	ENSG00000125257	Na	Na	Na	Na	Na	Na	Het;A>G	863;6|41	Hom;A>G	1782;0|66
N	N	-	13	95899716	95899716	C	A	snp	intronic	 	 	 	 	ABCC4	Abcc4	ENSG00000125257	ATP binding cassette subfamily C member 4	chr13:95672083-95953687	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]	Longevity; lung cancer ; lung cancer; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; chronic obstructive pulmonary disease; HIV Infections|Kidney Failure; pharmacogenetic studies; Breast cancer; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Count; bladder cancer; Breath Tests; Tobacco Use Disorder; Lipoproteins, VLDL; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Platelet Count; Diabetic Nephropathies; kidney disease; Adenocarcinoma|Pancreatic Neoplasms	Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology.	ABC-family proteins mediated transport	GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0008150;biological_process;ND|GO:0010033;response to organic substance;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0032310;prostaglandin secretion;IDA|GO:0042493;response to drug;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0055085;transmembrane transport;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0060271;cilium assembly;IMP|GO:0099131;ATP hydrolysis coupled ion transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031088;platelet dense granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0015662;ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism;TAS|GO:0016404;15-hydroxyprostaglandin dehydrogenase (NAD+) activity;NAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC4	https://www.uniprot.org/uniprot/O15439		https://www.ncbi.nlm.nih.gov/omim/?term=605250	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC4&submit=Quick%0D%5752ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC4	rs4148435	0.861821	0	0	1	0	0	intronic	intronic	intronic	ABCC4	ABCC4	ENSG00000125257	Na	Na	Na	Na	Na	Na	Het;C>A	34;2|2	Hom;C>A	128;0|5
N	N	-	13	96506664	96506664	A	G	snp	synonymous SNV	T234C	T78T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	UGGT2	Uggt2	ENSG00000102595	UDP-glucose glycoprotein glucosyltransferase 2	chr13:96453834-96705736	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]	hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	ER Quality Control Compartment (ERQC)	GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGGT2	https://www.uniprot.org/uniprot/Q9NYU1		https://www.ncbi.nlm.nih.gov/omim/?term=605898	http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2	rs11070154	0.329073	0.3667	0.3781	1	0	0	exonic	exonic	exonic	UGGT2	UGGT2	ENSG00000102595	synonymous SNV	synonymous SNV	unknown	UGGT2:NM_020121:exon35:c.T4074C:p.T1358T,	UGGT2:uc001vms.3:exon2:c.T234C:p.T78T,UGGT2:uc001vmt.3:exon35:c.T4074C:p.T1358T,	UNKNOWN	Het;A>G	424;46|22	Hom;A>G	1270;0|47
N	N	-	13	96540204	96540204	T	G	snp	nonsynonymous SNV	A2980C	M994L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	UGGT2	Uggt2	ENSG00000102595	UDP-glucose glycoprotein glucosyltransferase 2	chr13:96453834-96705736	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]	hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	ER Quality Control Compartment (ERQC)	GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGGT2	https://www.uniprot.org/uniprot/Q9NYU1		https://www.ncbi.nlm.nih.gov/omim/?term=605898	http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2	rs12876018	0.335264	0.3718	0.3716	0.23	3	13	exonic	exonic	exonic	UGGT2	UGGT2	ENSG00000102595	nonsynonymous SNV	nonsynonymous SNV	unknown	UGGT2:NM_020121:exon26:c.A2980C:p.M994L,	UGGT2:uc001vmu.1:exon4:c.A241C:p.M81L,UGGT2:uc001vmt.3:exon26:c.A2980C:p.M994L,	UNKNOWN	Het;T>G	667;27|32	Hom;T>G	1870;2|72
N	N	-	13	96599271	96599271	C	T	snp	intronic	 	 	 	 	UGGT2	Uggt2	ENSG00000102595	UDP-glucose glycoprotein glucosyltransferase 2	chr13:96453834-96705736	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]	hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	ER Quality Control Compartment (ERQC)	GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGGT2	https://www.uniprot.org/uniprot/Q9NYU1		https://www.ncbi.nlm.nih.gov/omim/?term=605898	http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2	rs7986005	0.365615	0.4085	0.3900	1	0	0	intronic	intronic	intronic	UGGT2	UGGT2	ENSG00000102595	Na	Na	Na	Na	Na	Na	Het;C>T	891;27|44	Hom;C>T	1046;0|38
N	N	-	13	96599433	96599433	A	C	snp	intronic	 	 	 	 	UGGT2	Uggt2	ENSG00000102595	UDP-glucose glycoprotein glucosyltransferase 2	chr13:96453834-96705736	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]	hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	ER Quality Control Compartment (ERQC)	GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGGT2	https://www.uniprot.org/uniprot/Q9NYU1		https://www.ncbi.nlm.nih.gov/omim/?term=605898	http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2	rs9556512	0.338858	0.3731	0.3766	1	0	0	intronic	intronic	intronic	UGGT2	UGGT2	ENSG00000102595	Na	Na	Na	Na	Na	Na	Het;A>C	508;46|23	Hom;A>C	1867;1|65
N	N	-	13	96599445	96599445	C	T	snp	intronic	 	 	 	 	UGGT2	Uggt2	ENSG00000102595	UDP-glucose glycoprotein glucosyltransferase 2	chr13:96453834-96705736	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]	hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	ER Quality Control Compartment (ERQC)	GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGGT2	https://www.uniprot.org/uniprot/Q9NYU1		https://www.ncbi.nlm.nih.gov/omim/?term=605898	http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2	rs9556513	0.363618	0.4053	0.3823	1	0	0	intronic	intronic	intronic	UGGT2	UGGT2	ENSG00000102595	Na	Na	Na	Na	Na	Na	Het;C>T	361;42|20	Hom;C>T	1460;1|54
N	N	-	13	96599565	96599565	T	C	snp	intronic	 	 	 	 	UGGT2	Uggt2	ENSG00000102595	UDP-glucose glycoprotein glucosyltransferase 2	chr13:96453834-96705736	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]	hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	ER Quality Control Compartment (ERQC)	GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGGT2	https://www.uniprot.org/uniprot/Q9NYU1		https://www.ncbi.nlm.nih.gov/omim/?term=605898	http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2	rs9561995	0.33746	0	0	1	0	0	intronic	intronic	intronic	UGGT2	UGGT2	ENSG00000102595	Na	Na	Na	Na	Na	Na	Het;T>C	77;4|3	Hom;T>C	184;0|5
N	N	-	13	96636170	96636170	G	C	snp	intronic	 	 	 	 	UGGT2	Uggt2	ENSG00000102595	UDP-glucose glycoprotein glucosyltransferase 2	chr13:96453834-96705736	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]	hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	ER Quality Control Compartment (ERQC)	GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGGT2	https://www.uniprot.org/uniprot/Q9NYU1		https://www.ncbi.nlm.nih.gov/omim/?term=605898	http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2	rs9562008	0.327476	0.3441	0.3518	1	0	0	intronic	intronic	intronic	UGGT2	UGGT2	ENSG00000102595	Na	Na	Na	Na	Na	Na	Het;G>C	407;6|17	Hom;G>C	1468;0|52
N	N	-	13	96993756	96993756	A	C	snp	intronic	 	 	 	 	HS6ST3	Hs6st3	ENSG00000185352	heparan sulfate 6-O-sulfotransferase 3	chr13:96743093-97485671	Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; Albuminuria; P-Selectin; Gallbladder Diseases; Echocardiography	 	HS-GAG biosynthesis	GO:0015015;heparan sulfate proteoglycan biosynthetic process, enzymatic modification;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008146;sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017095;heparan sulfate 6-O-sulfotransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HS6ST3			https://www.ncbi.nlm.nih.gov/omim/?term=609401	http://www.informatics.jax.org/searchtool/Search.do?query=HS6ST3&submit=Quick%0D%15403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HS6ST3	rs4771934	0.462061	0	0	1	0	0	intronic	intronic	intronic	HS6ST3	HS6ST3	ENSG00000185352	Na	Na	Na	Na	Na	Na	Het;A>C	233;10|12	Hom;A>C	454;0|16
N	N	-	13	98896776	98896776	C	T	snp	nonsynonymous SNV	C203T	T68I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	FARP1	Farp1	ENSG00000152767	FERM, ARH/RhoGEF and pleckstrin domain protein 1	chr13:98794816-99102027	This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]	Alzheimer Disease; Waist Circumference; Parkinson's disease ; Nonalcoholic Fatty Liver Disease; Body Fat Distribution; Tobacco Use Disorder; Brain structure ; Brain; Iron	 		GO:0007275;multicellular organism development;IEA|GO:0007416;synapse assembly;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048813;dendrite morphogenesis;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0048365;Rac GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FARP1	https://www.uniprot.org/uniprot/Q9Y4F1		https://www.ncbi.nlm.nih.gov/omim/?term=602654	http://www.informatics.jax.org/searchtool/Search.do?query=FARP1&submit=Quick%0D%9589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP1	rs7318267	0.376997	0.3379	0.4052	0.17	2	12	exonic	exonic	exonic	FARP1	FARP1	ENSG00000152767	nonsynonymous SNV	nonsynonymous SNV	unknown	FARP1:NM_001001715:exon3:c.C203T:p.T68I,	FARP1:uc001vni.3:exon3:c.C203T:p.T68I,	UNKNOWN	Het;C>T	557;34|27	Hom;C>T	1446;0|49
N	N	-	13	98946514	98946514	A	G	snp	intronic	 	 	 	 	FARP1	Farp1	ENSG00000152767	FERM, ARH/RhoGEF and pleckstrin domain protein 1	chr13:98794816-99102027	This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]	Alzheimer Disease; Waist Circumference; Parkinson's disease ; Nonalcoholic Fatty Liver Disease; Body Fat Distribution; Tobacco Use Disorder; Brain structure ; Brain; Iron	 		GO:0007275;multicellular organism development;IEA|GO:0007416;synapse assembly;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048813;dendrite morphogenesis;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0048365;Rac GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FARP1	https://www.uniprot.org/uniprot/Q9Y4F1		https://www.ncbi.nlm.nih.gov/omim/?term=602654	http://www.informatics.jax.org/searchtool/Search.do?query=FARP1&submit=Quick%0D%9589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP1	rs4772067	0.247804	0	0	1	0	0	intronic	intronic	intronic	FARP1	FARP1	ENSG00000152767	Na	Na	Na	Na	Na	Na	Het;A>G	160;17|9	Hom;A>G	479;0|17
N	N	-	13	99447005	99447005	T	C	snp	intronic	 	 	 	 	DOCK9	Dock9	ENSG00000088387	dedicator of cytokinesis 9	chr13:99445741-99738879		Coronary Artery Disease; Erythrocyte Count; Tobacco Use Disorder; Heart Failure; bipolar disorder; Body Height	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0008150;biological_process;ND|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK9	https://www.uniprot.org/uniprot/Q9BZ29		https://www.ncbi.nlm.nih.gov/omim/?term=607325	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK9&submit=Quick%0D%2001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK9	rs812808	0.755591	0.8415	0.8124	1	0	0	intronic	intronic	intronic	DOCK9	DOCK9	ENSG00000088387	Na	Na	Na	Na	Na	Na	Het;T>C	1960;101|95	Hom;T>C	4314;0|160
N	N	-	13	99449579	99449579	T	C	snp	intronic	 	 	 	 	DOCK9	Dock9	ENSG00000088387	dedicator of cytokinesis 9	chr13:99445741-99738879		Coronary Artery Disease; Erythrocyte Count; Tobacco Use Disorder; Heart Failure; bipolar disorder; Body Height	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0008150;biological_process;ND|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK9	https://www.uniprot.org/uniprot/Q9BZ29		https://www.ncbi.nlm.nih.gov/omim/?term=607325	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK9&submit=Quick%0D%2001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK9	rs1289314	0.750399	0	0	1	0	0	intronic	intronic	intronic	DOCK9	DOCK9	ENSG00000088387	Na	Na	Na	Na	Na	Na	Het;T>C	888;50|42	Hom;T>C	1852;0|65
N	N	-	13	99505632	99505632	C	T	snp	intronic	 	 	 	 	DOCK9	Dock9	ENSG00000088387	dedicator of cytokinesis 9	chr13:99445741-99738879		Coronary Artery Disease; Erythrocyte Count; Tobacco Use Disorder; Heart Failure; bipolar disorder; Body Height	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0008150;biological_process;ND|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK9	https://www.uniprot.org/uniprot/Q9BZ29		https://www.ncbi.nlm.nih.gov/omim/?term=607325	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK9&submit=Quick%0D%2001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK9	rs9513497	0.403554	0.4843	0.4709	1	0	0	intronic	intronic	intronic	DOCK9	DOCK9	ENSG00000088387	Na	Na	Na	Na	Na	Na	Het;C>T	764;18|32	Hom;C>T	1242;1|48
N	N	-	13	99536215	99536215	C	T	snp	intronic	 	 	 	 	DOCK9	Dock9	ENSG00000088387	dedicator of cytokinesis 9	chr13:99445741-99738879		Coronary Artery Disease; Erythrocyte Count; Tobacco Use Disorder; Heart Failure; bipolar disorder; Body Height	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0008150;biological_process;ND|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK9	https://www.uniprot.org/uniprot/Q9BZ29		https://www.ncbi.nlm.nih.gov/omim/?term=607325	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK9&submit=Quick%0D%2001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK9	rs2296996	0.626797	0	0	1	0	0	intronic	intronic	intronic	DOCK9	DOCK9	ENSG00000088387	Na	Na	Na	Na	Na	Na	Het;C>T	47;4|4	Hom;C>T	545;0|13
N	N	-	13	99538935	99538935	C	G	snp	intronic	 	 	 	 	DOCK9	Dock9	ENSG00000088387	dedicator of cytokinesis 9	chr13:99445741-99738879		Coronary Artery Disease; Erythrocyte Count; Tobacco Use Disorder; Heart Failure; bipolar disorder; Body Height	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0008150;biological_process;ND|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK9	https://www.uniprot.org/uniprot/Q9BZ29		https://www.ncbi.nlm.nih.gov/omim/?term=607325	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK9&submit=Quick%0D%2001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK9	rs6491466	0.463658	0	0	1	0	0	intronic	intronic	intronic	DOCK9	DOCK9	ENSG00000088387	Na	Na	Na	Na	Na	Na	Het;C>G	213;5|8	Hom;C>G	161;0|7
N	N	-	13	99540500	99540500	A	G	snp	intronic	 	 	 	 	DOCK9	Dock9	ENSG00000088387	dedicator of cytokinesis 9	chr13:99445741-99738879		Coronary Artery Disease; Erythrocyte Count; Tobacco Use Disorder; Heart Failure; bipolar disorder; Body Height	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0008150;biological_process;ND|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK9	https://www.uniprot.org/uniprot/Q9BZ29		https://www.ncbi.nlm.nih.gov/omim/?term=607325	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK9&submit=Quick%0D%2001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK9	rs2274643	0.464457	0.5558	0.5525	1	0	0	intronic	intronic	intronic	DOCK9	DOCK9	ENSG00000088387	Na	Na	Na	Na	Na	Na	Het;A>G	532;28|25	Hom;A>G	1404;0|50
N	N	-	13	99578265	99578265	T	C	snp	intronic	 	 	 	 	DOCK9	Dock9	ENSG00000088387	dedicator of cytokinesis 9	chr13:99445741-99738879		Coronary Artery Disease; Erythrocyte Count; Tobacco Use Disorder; Heart Failure; bipolar disorder; Body Height	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0008150;biological_process;ND|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK9	https://www.uniprot.org/uniprot/Q9BZ29		https://www.ncbi.nlm.nih.gov/omim/?term=607325	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK9&submit=Quick%0D%2001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK9	rs7318788	0.59984	0	0	1	0	0	intronic	intronic	intronic	DOCK9	DOCK9	ENSG00000088387	Na	Na	Na	Na	Na	Na	Het;T>C	104;10|5	Hom;T>C	234;0|8
N	N	-	14	101069889	101069890	CT	C	indel	intergenic	 	 	 	 	AL163974.1																		rs5811003	0.515775	0	0	1	0	0	intergenic	intergenic	intergenic	BEGAIN(dist=33758),LINC00523(dist=53715)	BEGAIN(dist=33758),LINC00523(dist=53715)	ENSG00000258576(dist=14226),ENSG00000196273(dist=53697)	Na	Na	Na	Na	Na	Na	Het;-T	229;3|8	Hom;-T	113;0|4
N	N	-	14	101069901	101069901	G	T	snp	intergenic	 	 	 	 	AL163974.1																		rs879058	0.515375	0	0	1	0	0	intergenic	intergenic	intergenic	BEGAIN(dist=33770),LINC00523(dist=53704)	BEGAIN(dist=33770),LINC00523(dist=53704)	ENSG00000258576(dist=14238),ENSG00000196273(dist=53686)	Na	Na	Na	Na	Na	Na	Het;G>T	140;2|8	Hom;G>T	107;0|5
N	N	-	14	101078774	101078774	T	G	snp	intergenic	 	 	 	 	AL163974.1																		rs12898185	0.385783	0	0	1	0	0	intergenic	intergenic	intergenic	BEGAIN(dist=42643),LINC00523(dist=44831)	BEGAIN(dist=42643),LINC00523(dist=44831)	ENSG00000258576(dist=23111),ENSG00000196273(dist=44813)	Na	Na	Na	Na	Na	Na	Het;T>G	602;43|28	Hom;T>G	1691;1|61
N	N	-	14	101302211	101302211	G	T	snp	ncRNA_exonic	 	 	 	 	MEG3																		rs11859	0.351038	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	MEG3	MEG3	ENSG00000214548	Na	Na	Na	Na	Na	Na	Het;G>T	1625;73|76	Hom;G>T	2633;1|97
N	N	-	14	101302283	101302283	C	T	snp	ncRNA_exonic	 	 	 	 	MEG3																		rs10146872	0.109425	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	MEG3	MEG3	ENSG00000214548	Na	Na	Na	Na	Na	Na	Het;C>T	686;29|31	Hom;C>T	1012;2|36
N	N	-	14	101311766	101311766	C	T	snp	ncRNA_intronic	 	 	 	 	MEG3																		rs7153819	0.090655	0	0.0817	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	MEG3	MEG3	ENSG00000214548,ENSG00000258663	Na	Na	Na	Na	Na	Na	Het;C>T	543;40|28	Hom;C>T	1583;0|59
N	N	-	14	102918686	102918686	T	C	snp	intronic	 	 	 	 	TECPR2	Tecpr2	ENSG00000196663	tectonin beta-propeller repeat containing 2	chr14:102829300-102968818	The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Hereditary Spastic Paraparesis	 		GO:0006914;autophagy;IEA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TECPR2		https://hpo.jax.org/app/browse/search?q=TECPR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615000	http://www.informatics.jax.org/searchtool/Search.do?query=TECPR2&submit=Quick%0D%16434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR2	rs1190554	0.730232	0.6966	0.6902	1	0	0	intronic	intronic	intronic	TECPR2	TECPR2	ENSG00000196663	Na	Na	Na	Na	Na	Na	Het;T>C	202;5|9	Hom;T>C	286;0|10
N	N	-	14	102964654	102964654	A	G	snp	UTR3	*60A>G	 	 	 	TECPR2	Tecpr2	ENSG00000196663	tectonin beta-propeller repeat containing 2	chr14:102829300-102968818	The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Hereditary Spastic Paraparesis	 		GO:0006914;autophagy;IEA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TECPR2		https://hpo.jax.org/app/browse/search?q=TECPR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615000	http://www.informatics.jax.org/searchtool/Search.do?query=TECPR2&submit=Quick%0D%16434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR2	rs2403058	0.758786	0	0	1	0	0	UTR3	UTR3	UTR3	TECPR2(NM_014844:c.*60A>G)	TECPR2(uc001ylw.2:c.*60A>G,uc010txx.2:c.*60A>G)	ENSG00000196663(ENST00000359520:c.*60A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	514;30|27	Hom;A>G	1382;0|45
N	N	-	14	102994065	102994065	T	C	snp	intergenic	 	 	 	 	ANKRD9	Ankrd9	ENSG00000156381	ankyrin repeat domain 9	chr14:102973179-102976136		Platelet Count; HIV Infections|[X]Human immunodeficiency virus disease	 	Neddylation	GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS		http://www.genecards.org/index.php?path=/Search/keyword/ANKRD9	https://www.uniprot.org/uniprot/Q96BM1			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD9&submit=Quick%0D%9972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD9	rs4900538	0.731629	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD9(dist=17937),MIR4309(dist=11916)	ANKRD9(dist=17937),MIR4309(dist=11916)	ENSG00000156381(dist=17929),ENSG00000266015(dist=11916)	Na	Na	Na	Na	Na	Na	Het;T>C	97;13|7	Hom;T>C	380;0|15
N	N	-	14	103440473	103440473	G	C	snp	synonymous SNV	C1521G	L507L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CDC42BPB	Cdc42bpb	ENSG00000198752	CDC42 binding protein kinase beta	chr14:103398716-103523799	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Lymphoma, Large B-Cell, Diffuse	 		GO:0006468;protein phosphorylation;IDA|GO:0007010;cytoskeleton organization;TAS|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IMP|GO:0031532;actin cytoskeleton reorganization;ISS|GO:0035556;intracellular signal transduction;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031252;cell leading edge;ISS|GO:0042641;actomyosin;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDC42BPB			https://www.ncbi.nlm.nih.gov/omim/?term=614062	http://www.informatics.jax.org/searchtool/Search.do?query=CDC42BPB&submit=Quick%0D%16989ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC42BPB	rs8009219	0.590855	0.5883	0.6551	1	0	0	exonic	exonic	exonic	CDC42BPB	CDC42BPB	ENSG00000198752	synonymous SNV	synonymous SNV	unknown	CDC42BPB:NM_006035:exon12:c.C1521G:p.L507L,	CDC42BPB:uc001ymi.1:exon12:c.C1521G:p.L507L,	UNKNOWN	Het;G>C	1357;54|61	Hom;G>C	3042;0|98
N	N	-	14	103841018	103841018	A	G	snp	ncRNA_exonic	 	 	 	 	RPSAP5																		rs6575979	0.666933	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	EIF5(dist=29657),MARK3(dist=10683)	EIF5(dist=29657),MARK3(dist=10683)	ENSG00000243904	Na	Na	Na	Na	Na	Na	Het;A>G	802;21|33	Hom;A>G	1739;0|63
N	N	-	14	104089241	104089241	C	T	snp	intronic	 	 	 	 	KLC1	Klc1	ENSG00000126214	kinesin light chain 1	chr14:104028233-104167888	Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension|Leukoaraiosis; melanoma|Skin Neoplasms; null; Alzheimer's Disease; Multiple Sclerosis, Relapsing-Remitting; benzene haematotoxicity; Cataract|; Hypoxia-Ischemia, Brain|Stroke; cognitive impairment	Mice homozygous for disruptions in this gene are significantly smaller than normal.	Kinesins	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0016032;viral process;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0035617;stress granule disassembly;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA	GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KLC1	https://www.uniprot.org/uniprot/Q07866		https://www.ncbi.nlm.nih.gov/omim/?term=600025	http://www.informatics.jax.org/searchtool/Search.do?query=KLC1&submit=Quick%0D%5912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLC1	rs28668463	0.51877	0	0	1	0	0	intergenic	intronic	intronic	APOPT1(dist=30731),KLC1(dist=6284)	KLC1	ENSG00000126214,ENSG00000256500	Na	Na	Na	Na	Na	Na	Het;C>T	143;4|8	Hom;C>T	337;0|13
N	N	-	14	104193099	104193099	C	G	snp	intronic	 	 	 	 	ZFYVE21	Zfyve21	ENSG00000100711	zinc finger FYVE-type containing 21	chr14:104182067-104200005		melanoma|Skin Neoplasms; benzene haematotoxicity	 		GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0046854;phosphatidylinositol phosphorylation;IBA	GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005925;focal adhesion;IEA|GO:0010008;endosome membrane;IBA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE21	https://www.uniprot.org/uniprot/Q9BQ24		https://www.ncbi.nlm.nih.gov/omim/?term=613504	http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE21&submit=Quick%0D%2585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE21	rs2295151	0.59405	0.5911	0.5179	1	0	0	intronic	intronic	intronic	ZFYVE21	ZFYVE21	ENSG00000100711	Na	Na	Na	Na	Na	Na	Het;C>G	457;39|22	Hom;C>G	1162;1|43
N	N	-	14	104195610	104195610	T	C	snp	intronic	 	 	 	 	ZFYVE21	Zfyve21	ENSG00000100711	zinc finger FYVE-type containing 21	chr14:104182067-104200005		melanoma|Skin Neoplasms; benzene haematotoxicity	 		GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0046854;phosphatidylinositol phosphorylation;IBA	GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005925;focal adhesion;IEA|GO:0010008;endosome membrane;IBA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE21	https://www.uniprot.org/uniprot/Q9BQ24		https://www.ncbi.nlm.nih.gov/omim/?term=613504	http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE21&submit=Quick%0D%2585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE21	rs2295148	0.594649	0	0	1	0	0	intronic	intronic	intronic	ZFYVE21	ZFYVE21	ENSG00000100711	Na	Na	Na	Na	Na	Na	Het;T>C	154;9|7	Hom;T>C	467;0|16
N	N	-	14	104195664	104195664	C	T	snp	intronic	 	 	 	 	ZFYVE21	Zfyve21	ENSG00000100711	zinc finger FYVE-type containing 21	chr14:104182067-104200005		melanoma|Skin Neoplasms; benzene haematotoxicity	 		GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0046854;phosphatidylinositol phosphorylation;IBA	GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005925;focal adhesion;IEA|GO:0010008;endosome membrane;IBA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE21	https://www.uniprot.org/uniprot/Q9BQ24		https://www.ncbi.nlm.nih.gov/omim/?term=613504	http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE21&submit=Quick%0D%2585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE21	rs2295147	0.582867	0	0	1	0	0	intronic	intronic	intronic	ZFYVE21	ZFYVE21	ENSG00000100711	Na	Na	Na	Na	Na	Na	Het;C>T	55;5|3	Hom;C>T	186;0|6
N	N	-	14	104216293	104216293	C	T	snp	intronic	 	 	 	 	PPP1R13B	Ppp1r13b	ENSG00000088808	protein phosphatase 1 regulatory subunit 13B	chr14:104200089-104313927	This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]	melanoma|Skin Neoplasms; Tobacco Use Disorder	Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels.	Regulation of TP53 Activity through Association with Co-factors	GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B	https://www.uniprot.org/uniprot/Q96KQ4		https://www.ncbi.nlm.nih.gov/omim/?term=606455	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B	rs2295140	0.589657	0.5723	0.5058	1	0	0	intronic	intronic	intronic	PPP1R13B	PPP1R13B	ENSG00000088808	Na	Na	Na	Na	Na	Na	Het;C>T	794;22|34	Hom;C>T	1961;0|64
N	N	-	14	104618917	104618917	G	T	snp	intronic	 	 	 	 	KIF26A	Kif26a	ENSG00000066735	kinesin family member 26A	chr14:104605060-104647231		Stroke; Pancreatic Neoplasms; Waist Circumference	Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis.	Kinesins	GO:0001560;regulation of cell growth by extracellular stimulus;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0048484;enteric nervous system development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF26A	https://www.uniprot.org/uniprot/Q9ULI4		https://www.ncbi.nlm.nih.gov/omim/?term=613231	http://www.informatics.jax.org/searchtool/Search.do?query=KIF26A&submit=Quick%0D%1230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF26A	rs8012419	0.792931	0	0	1	0	0	intronic	intronic	intronic	KIF26A	KIF26A	ENSG00000066735	Na	Na	Na	Na	Na	Na	Het;G>T	86;6|4	Hom;G>T	214;0|8
N	N	-	14	104640481	104640481	G	C	snp	intronic	 	 	 	 	KIF26A	Kif26a	ENSG00000066735	kinesin family member 26A	chr14:104605060-104647231		Stroke; Pancreatic Neoplasms; Waist Circumference	Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis.	Kinesins	GO:0001560;regulation of cell growth by extracellular stimulus;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0048484;enteric nervous system development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF26A	https://www.uniprot.org/uniprot/Q9ULI4		https://www.ncbi.nlm.nih.gov/omim/?term=613231	http://www.informatics.jax.org/searchtool/Search.do?query=KIF26A&submit=Quick%0D%1230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF26A	rs2254205	0.355032	0.3089	0.3395	1	0	0	intronic	intronic	intronic	KIF26A	KIF26A	ENSG00000066735	Na	Na	Na	Na	Na	Na	Het;G>C	797;26|36	Hom;G>C	1976;0|76
N	N	-	14	104643859	104643859	A	G	snp	synonymous SNV	A4734G	R1578R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	KIF26A	Kif26a	ENSG00000066735	kinesin family member 26A	chr14:104605060-104647231		Stroke; Pancreatic Neoplasms; Waist Circumference	Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis.	Kinesins	GO:0001560;regulation of cell growth by extracellular stimulus;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0048484;enteric nervous system development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF26A	https://www.uniprot.org/uniprot/Q9ULI4		https://www.ncbi.nlm.nih.gov/omim/?term=613231	http://www.informatics.jax.org/searchtool/Search.do?query=KIF26A&submit=Quick%0D%1230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF26A	rs2487300	0.494409	0.4116	0.5060	1	0	0	exonic	exonic	exonic	KIF26A	KIF26A	ENSG00000066735	synonymous SNV	synonymous SNV	unknown	KIF26A:NM_015656:exon12:c.A4734G:p.R1578R,	KIF26A:uc001yos.4:exon12:c.A4734G:p.R1578R,	UNKNOWN	Het;A>G	1180;63|51	Hom;A>G	2690;0|86
N	N	-	14	104644099	104644099	T	C	snp	synonymous SNV	T4974C	S1658S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KIF26A	Kif26a	ENSG00000066735	kinesin family member 26A	chr14:104605060-104647231		Stroke; Pancreatic Neoplasms; Waist Circumference	Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis.	Kinesins	GO:0001560;regulation of cell growth by extracellular stimulus;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0048484;enteric nervous system development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF26A	https://www.uniprot.org/uniprot/Q9ULI4		https://www.ncbi.nlm.nih.gov/omim/?term=613231	http://www.informatics.jax.org/searchtool/Search.do?query=KIF26A&submit=Quick%0D%1230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF26A	rs2497297	0.405551	0.3438	0.4612	1	0	0	exonic	exonic	exonic	KIF26A	KIF26A	ENSG00000066735	synonymous SNV	synonymous SNV	unknown	KIF26A:NM_015656:exon12:c.T4974C:p.S1658S,	KIF26A:uc001yos.4:exon12:c.T4974C:p.S1658S,	UNKNOWN	Het;T>C	1229;32|52	Hom;T>C	1627;0|59
N	N	-	14	104917203	104917203	A	G	snp	upstream	 	 	 	 	CEND1P1																		rs10138582	0.669728	0	0	1	0	0	intergenic	intergenic	upstream	KIF26A(dist=269968),C14orf180(dist=128818)	KIF26A(dist=269968),AX746996(dist=58759)	ENSG00000213159	Na	Na	Na	Na	Na	Na	Het;A>G	42;2|3	Hom;A>G	150;0|5
N	N	-	14	104996272	104996272	C	A	snp	intronic	 	 	 	 	TMEM179	Tmem179	ENSG00000276342	transmembrane protein 179	chr14:104941015-105071984			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM179				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM179&submit=Quick%0D%21582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM179	rs10139182	0.798922	0	0	1	0	0	intergenic	intergenic	intronic	KIF26A(dist=349037),C14orf180(dist=49749)	AX746996(dist=16859),C14orf180(dist=49784)	ENSG00000258986	Na	Na	Na	Na	Na	Na	Het;C>A	80;12|6	Hom;C>A	586;0|23
N	N	-	14	105129747	105129747	T	C	snp	ncRNA_exonic	 	 	 	 	LINC02280																		rs56003625	0.444089	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TMEM179(dist=58650),MIR4710(dist=14284)	TMEM179(dist=58650),MIR4710(dist=14284)	ENSG00000260792	Na	Na	Na	Na	Na	Na	Het;T>C	95;1|3	Hom;T>C	142;0|4
N	N	-	14	105129825	105129825	T	C	snp	ncRNA_exonic	 	 	 	 	LINC02280																		rs12437326	0.429313	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TMEM179(dist=58728),MIR4710(dist=14206)	TMEM179(dist=58728),MIR4710(dist=14206)	ENSG00000260792	Na	Na	Na	Na	Na	Na	Het;T>C	263;5|8	Hom;T>C	146;0|5
N	N	-	14	105196230	105196230	A	C	snp	nonsynonymous SNV	A1C	M1L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADSSL1	Adssl1	ENSG00000185100	adenylosuccinate synthase like 1	chr14:105190523-105213662	This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Chronic renal failure|Kidney Failure, Chronic	 	Purine ribonucleoside monophosphate biosynthesis	GO:0002376;immune system process;NAS|GO:0006163;purine nucleotide metabolic process;IEA|GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006167;AMP biosynthetic process;IDA|GO:0006531;aspartate metabolic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0014850;response to muscle activity;IEA|GO:0035690;cellular response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0044208;'de novo' AMP biosynthetic process;IEA|GO:0046040;IMP metabolic process;IBA|GO:0071257;cellular response to electrical stimulus;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0004019;adenylosuccinate synthase activity;EXP|GO:0005525;GTP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042301;phosphate ion binding;NAS|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADSSL1		https://hpo.jax.org/app/browse/search?q=ADSSL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612498	http://www.informatics.jax.org/searchtool/Search.do?query=ADSSL1&submit=Quick%0D%15342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADSSL1	rs80097179	0.376198	0.2694	0	0.10	1	10	exonic	exonic	exonic	ADSSL1	ADSSL1	ENSG00000185100	nonsynonymous SNV	nonsynonymous SNV	unknown	ADSSL1:NM_199165:exon1:c.A1C:p.M1L,	ADSSL1:uc001ype.3:exon1:c.A1C:p.M1L,	UNKNOWN	Het;A>C	454;20|20	Hom;A>C	1167;0|26
N	N	-	14	105208057	105208057	C	T	snp	intronic	 	 	 	 	ADSSL1	Adssl1	ENSG00000185100	adenylosuccinate synthase like 1	chr14:105190523-105213662	This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Chronic renal failure|Kidney Failure, Chronic	 	Purine ribonucleoside monophosphate biosynthesis	GO:0002376;immune system process;NAS|GO:0006163;purine nucleotide metabolic process;IEA|GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006167;AMP biosynthetic process;IDA|GO:0006531;aspartate metabolic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0014850;response to muscle activity;IEA|GO:0035690;cellular response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0044208;'de novo' AMP biosynthetic process;IEA|GO:0046040;IMP metabolic process;IBA|GO:0071257;cellular response to electrical stimulus;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0004019;adenylosuccinate synthase activity;EXP|GO:0005525;GTP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042301;phosphate ion binding;NAS|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADSSL1		https://hpo.jax.org/app/browse/search?q=ADSSL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612498	http://www.informatics.jax.org/searchtool/Search.do?query=ADSSL1&submit=Quick%0D%15342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADSSL1	rs4983384	0.404553	0	0	1	0	0	intronic	intronic	intronic	ADSSL1	ADSSL1	ENSG00000185100	Na	Na	Na	Na	Na	Na	Het;C>T	235;8|9	Hom;C>T	471;0|15
N	N	-	14	105208393	105208393	G	A	snp	intronic	 	 	 	 	ADSSL1	Adssl1	ENSG00000185100	adenylosuccinate synthase like 1	chr14:105190523-105213662	This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Chronic renal failure|Kidney Failure, Chronic	 	Purine ribonucleoside monophosphate biosynthesis	GO:0002376;immune system process;NAS|GO:0006163;purine nucleotide metabolic process;IEA|GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006167;AMP biosynthetic process;IDA|GO:0006531;aspartate metabolic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0014850;response to muscle activity;IEA|GO:0035690;cellular response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0044208;'de novo' AMP biosynthetic process;IEA|GO:0046040;IMP metabolic process;IBA|GO:0071257;cellular response to electrical stimulus;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0004019;adenylosuccinate synthase activity;EXP|GO:0005525;GTP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042301;phosphate ion binding;NAS|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADSSL1		https://hpo.jax.org/app/browse/search?q=ADSSL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612498	http://www.informatics.jax.org/searchtool/Search.do?query=ADSSL1&submit=Quick%0D%15342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADSSL1	rs75268661	0.13738	0	0	1	0	0	intronic	intronic	intronic	ADSSL1	ADSSL1	ENSG00000185100	Na	Na	Na	Na	Na	Na	Het;G>A	1134;50|52	Hom;G>A	1975;2|72
N	N	-	14	105222037	105222037	C	T	snp	synonymous SNV	C189T	A63A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SIVA1	Siva1	ENSG00000184990	SIVA1 apoptosis inducing factor	chr14:105219437-105234831	This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit embryonic lethality.		GO:0006915;apoptotic process;IEA|GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA	GO:0001618;virus receptor activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IEA|GO:0005175;CD27 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIVA1			https://www.ncbi.nlm.nih.gov/omim/?term=605567	http://www.informatics.jax.org/searchtool/Search.do?query=SIVA1&submit=Quick%0D%15312ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIVA1	rs1132975	0.433307	0.3157	0.3892	1	0	0	exonic	exonic	exonic	SIVA1	SIVA1	ENSG00000184990	synonymous SNV	synonymous SNV	unknown	SIVA1:NM_006427:exon2:c.C189T:p.A63A,	SIVA1:uc001yph.3:exon2:c.C189T:p.A63A,SIVA1:uc001ypg.1:exon2:c.C189T:p.A63A,SIVA1:uc010tyj.1:exon2:c.C189T:p.A63A,	UNKNOWN	Het;C>T	822;46|42	Hom;C>T	1885;0|68
N	N	-	14	105225979	105225979	C	G	snp	ncRNA_exonic	 	 	 	 	AF401214																		rs1133044	0.146765	0	0	1	0	0	UTR3	ncRNA_exonic	UTR3	SIVA1(NM_006427:c.*157C>G,NM_021709:c.*157C>G)	AF401214	ENSG00000184990(ENST00000329967:c.*157C>G,ENST00000347067:c.*157C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	80;1|3	Hom;C>G	256;0|7
N	N	-	14	105237380	105237380	G	A	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs118098425	0.00579073	0	0	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;G>A	37;2|2	Hom;G>A	201;0|6
N	N	-	14	105238591	105238596	CCTGAG	C	indel	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs55839843	0.420128	0	0	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;-CTGAG	317;8|9	Hom;-CTGAG	268;0|6
N	N	-	14	105238604	105238604	C	T	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs2498800	0.422125	0	0	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;C>T	355;9|10	Hom;C>T	426;0|13
N	N	-	14	105239146	105239146	C	G	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs3803304	0.221446	0	0	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;C>G	114;2|4	Hom;C>G	222;0|7
N	N	-	14	105239192	105239192	T	C	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs2494732	0.574081	0.4530	0.5225	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;T>C	373;11|14	Hom;T>C	692;0|19
N	N	-	14	105239894	105239894	C	T	snp	synonymous SNV	G726A	E242E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs1130233	0.322484	0.2016	0.3141	1	0	0	exonic	exonic	exonic	AKT1	AKT1	ENSG00000142208	synonymous SNV	synonymous SNV	unknown	AKT1:NM_001014432:exon10:c.G726A:p.E242E,AKT1:NM_005163:exon9:c.G726A:p.E242E,AKT1:NM_001014431:exon9:c.G726A:p.E242E,	AKT1:uc001ypl.3:exon8:c.G726A:p.E242E,AKT1:uc010tyk.2:exon7:c.G540A:p.E180E,AKT1:uc001ypm.3:exon10:c.G726A:p.E242E,AKT1:uc001ypk.3:exon9:c.G726A:p.E242E,AKT1:uc001ypn.3:exon9:c.G726A:p.E242E,AKT1:uc010axa.3:exon9:c.G726A:p.E242E,	UNKNOWN	Het;C>T	1420;48|63	Hom;C>T	2563;0|102
N	N	-	14	105242228	105242228	T	C	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs2498797	0.52476	0	0	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;T>C	197;11|7	Hom;T>C	546;2|18
N	N	-	14	105242966	105242966	T	C	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs2494735	0.596446	0.4718	0.4648	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;T>C	1271;35|57	Hom;T>C	2659;0|92
N	N	-	14	105243220	105243220	G	A	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs2498796	0.436502	0	0	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;G>A	271;23|14	Hom;G>A	936;0|31
N	N	-	14	105246325	105246325	T	A	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs2494737	0.513778	0	0	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;T>A	147;7|8	Hom;T>A	373;0|13
N	N	-	14	105246407	105246407	G	A	snp	intronic	 	 	 	 	AKT1	Akt1	ENSG00000142208	AKT serine/threonine kinase 1	chr14:105235686-105262088	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; methamphetamine abuse schizophrenia; esophageal adenocarcinoma; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; Type 2 diabetes; Tuberculosis, Pulmonary; Endometrial Neoplasms; bladder cancer; prostate cancer; Dyskinesia, Drug-Induced; Colonic Neoplasms|Rectal Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hair thickness; Type 2 Diabetes| edema | rosiglitazone; esophageal cancer ; Bipolar Disorder; Schizophrenia; HIV; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Amphetamine-Related Disorders; Hepatopulmonary Syndrome|Liver Cirrhosis; Marijuana Abuse|Psychoses, Substance-Induced; myeloid leukemia; Insulin Resistance|Metabolic Syndrome X; suicidal behavior in bipolar patients; major depressive disorder; Parkinson's disease ; lung cancer; methamphetamine abuse; colorectal cancer; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; methamphetamine use; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; chronic obstructive pulmonary disease; Endometriosis; BMI- Edema rosiglitazone or pioglitazone; verbal learning, verbal memory, and regional cortical gray matter density; diabetes, type 2; methamphetamine induced psychosis; schizophrenia; atherosclerosis; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Bone Mineral Density; Breast Neoplasms|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; null; Retinal Neoplasms|Retinoblastoma; HIV Infections|[X]Human immunodeficiency virus disease	Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.	Regulation of PTEN stability and activity	GO:0000060;protein import into nucleus, translocation;IMP|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005979;regulation of glycogen biosynthetic process;IMP|GO:0006006;glucose metabolic process;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0006809;nitric oxide biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0006924;activation-induced cell death of T cells;IMP|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;ISS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007399;nervous system development;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0008643;carbohydrate transport;IEA|GO:0009408;response to heat;TAS|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;IEA|GO:0010748;negative regulation of plasma membrane long-chain fatty acid transport;IMP|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0010907;positive regulation of glucose metabolic process;IMP|GO:0010951;negative regulation of endopeptidase activity;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015758;glucose transport;IEA|GO:0016242;negative regulation of macroautophagy;NAS|GO:0016310;phosphorylation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021510;spinal cord development;IEA|GO:0030030;cell projection organization;IEA|GO:0030154;cell differentiation;TAS|GO:0030163;protein catabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030212;hyaluronan metabolic process;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030334;regulation of cell migration;IMP|GO:0031018;endocrine pancreas development;TAS|GO:0031295;T cell costimulation;TAS|GO:0031641;regulation of myelination;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0031929;TOR signaling;NAS|GO:0031999;negative regulation of fatty acid beta-oxidation;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032094;response to food;IEA|GO:0032270;positive regulation of cellular protein metabolic process;ISS|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IMP|GO:0032880;regulation of protein localization;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034405;response to fluid shear stress;IMP|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0035655;interleukin-18-mediated signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0038061;NIK/NF-kappaB signaling;IMP|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043276;anoikis;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043491;protein kinase B signaling;IEA|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045600;positive regulation of fat cell differentiation;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IMP|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045792;negative regulation of cell size;IEA|GO:0045861;negative regulation of proteolysis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046326;positive regulation of glucose import;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IMP|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051146;striated muscle cell differentiation;IEA|GO:0060416;response to growth hormone;ISS|GO:0060644;mammary gland epithelial cell differentiation;TAS|GO:0060709;glycogen cell differentiation involved in embryonic placenta development;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061024;membrane organization;TAS|GO:0070141;response to UV-A;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IMP|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:0097194;execution phase of apoptosis;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:0100002;negative regulation of protein kinase activity by protein phosphorylation;TAS|GO:1900182;positive regulation of protein localization to nucleus;IMP|GO:1901215;negative regulation of neuron death;NAS|GO:1901653;cellular response to peptide;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901976;regulation of cell cycle checkpoint;TAS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;NAS|GO:1903721;positive regulation of I-kappaB phosphorylation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IMP|GO:1990418;response to insulin-like growth factor stimulus;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0031982;vesicle;IDA|GO:0036064;ciliary basal body;IEA|GO:0043234;protein complex;IEA|GO:0098794;postsynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0019901;protein kinase binding;IEA|GO:0030235;nitric-oxide synthase regulator activity;IMP|GO:0032794;GTPase activating protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0051721;protein phosphatase 2A binding;IEA|GO:0071889;14-3-3 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKT1	https://www.uniprot.org/uniprot/P31749	https://hpo.jax.org/app/browse/search?q=AKT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164730	http://www.informatics.jax.org/searchtool/Search.do?query=AKT1&submit=Quick%0D%8264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKT1	rs3730358	0.174121	0.1726	0.1589	1	0	0	intronic	intronic	intronic	AKT1	AKT1	ENSG00000142208	Na	Na	Na	Na	Na	Na	Het;G>A	555;26|26	Hom;G>A	1498;2|56
N	N	-	14	105335049	105335049	C	T	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs12431850	0.333267	0	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>T	216;1|9	Hom;C>T	165;0|6
N	N	-	14	105342981	105342981	C	G	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs78109240	0.338259	0	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>G	95;1|3	Hom;C>G	242;0|6
N	N	-	14	105342982	105342982	A	G	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs61995994	0.338259	0	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;A>G	95;1|3	Hom;A>G	242;0|6
N	N	-	14	105344293	105344293	C	T	snp	synonymous SNV	C57T	F19F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs61995995	0.353834	0.4531	0.5391	1	0	0	exonic	exonic	exonic	CEP170B	CEP170B	ENSG00000099814	synonymous SNV	synonymous SNV	unknown	CEP170B:NM_015005:exon3:c.C57T:p.F19F,CEP170B:NM_001112726:exon4:c.C267T:p.F89F,	CEP170B:uc001yps.3:exon3:c.C57T:p.F19F,CEP170B:uc010axb.4:exon4:c.C267T:p.F89F,	UNKNOWN	Het;C>T	1205;31|35	Hom;C>T	1629;0|43
N	N	-	14	105344318	105344318	G	A	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2304758	0.341454	0.4432	0.5361	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;G>A	1103;29|30	Hom;G>A	1311;0|29
N	N	-	14	105344347	105344347	C	G	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2304757	0.341254	0.4418	0.5139	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>G	447;21|21	Hom;C>G	484;0|19
N	N	-	14	105344419	105344419	A	G	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs34009344	0.341454	0	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;A>G	37;4|2	Hom;A>G	129;0|4
N	N	-	14	105344761	105344761	C	T	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs41317300	0.340056	0.4399	0.4893	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>T	594;26|28	Hom;C>T	980;0|38
N	N	-	14	105344872	105344872	C	T	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs61995998	0.267173	0.3811	0.4094	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>T	507;24|25	Hom;C>T	980;1|39
N	N	-	14	105348733	105348733	G	T	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2841235	0.419928	0	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;G>T	36;4|3	Hom;G>T	71;0|4
N	N	-	14	105349220	105349220	T	G	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2028415	0.51897	0.6235	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;T>G	204;22|9	Hom;T>G	1348;0|51
N	N	-	14	105349388	105349388	A	C	snp	synonymous SNV	A384C	P128P	hydrophobic,neutral	hydrophobic,neutral	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2028414	0.516973	0.6153	0.6474	1	0	0	exonic	exonic	exonic	CEP170B	CEP170B	ENSG00000099814	synonymous SNV	synonymous SNV	unknown	CEP170B:NM_015005:exon7:c.A384C:p.P128P,CEP170B:NM_001112726:exon8:c.A594C:p.P198P,	CEP170B:uc001yps.3:exon7:c.A384C:p.P128P,CEP170B:uc010axb.4:exon8:c.A594C:p.P198P,	UNKNOWN	Het;A>C	548;19|25	Hom;A>C	1916;1|70
N	N	-	14	105349877	105349877	C	T	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs10145119	0.5002	0.6502	0.6467	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>T	977;15|25	Hom;C>T	1231;0|30
N	N	-	14	105349886	105349886	C	T	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs10145122	0.507987	0.6640	0.6485	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>T	1019;14|26	Hom;C>T	1087;0|24
N	N	-	14	105349891	105349891	G	A	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs10145270	0.339856	0.3775	0.5136	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;G>A	1025;11|26	Hom;G>A	1052;0|23
N	N	-	14	105349897	105349897	A	G	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs10145031	0.515775	0.6511	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;A>G	977;8|25	Hom;A>G	987;0|23
N	N	-	14	105350355	105350355	A	G	snp	synonymous SNV	A1029G	T343T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2841236	0.469449	0.6057	0.6165	1	0	0	exonic	exonic	exonic	CEP170B	CEP170B	ENSG00000099814	synonymous SNV	synonymous SNV	unknown	CEP170B:NM_015005:exon8:c.A1029G:p.T343T,CEP170B:NM_001112726:exon9:c.A1239G:p.T413T,	CEP170B:uc001yps.3:exon8:c.A1029G:p.T343T,CEP170B:uc010axb.4:exon9:c.A1239G:p.T413T,	UNKNOWN	Het;A>G	1135;91|51	Hom;A>G	3110;1|109
N	N	-	14	105350799	105350799	C	T	snp	synonymous SNV	C1473T	D491D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs9788593	0.48722	0.6612	0.6962	1	0	0	exonic	exonic	exonic	CEP170B	CEP170B	ENSG00000099814	synonymous SNV	synonymous SNV	unknown	CEP170B:NM_015005:exon8:c.C1473T:p.D491D,CEP170B:NM_001112726:exon9:c.C1683T:p.D561D,	CEP170B:uc001yps.3:exon8:c.C1473T:p.D491D,CEP170B:uc010axb.4:exon9:c.C1683T:p.D561D,	UNKNOWN	Het;C>T	396;44|23	Hom;C>T	1844;0|70
N	N	-	14	105350868	105350868	C	T	snp	synonymous SNV	C1542T	A514A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs9788594	0.488019	0.6539	0.6745	1	0	0	exonic	exonic	exonic	CEP170B	CEP170B	ENSG00000099814	synonymous SNV	synonymous SNV	unknown	CEP170B:NM_015005:exon8:c.C1542T:p.A514A,CEP170B:NM_001112726:exon9:c.C1752T:p.A584A,	CEP170B:uc001yps.3:exon8:c.C1542T:p.A514A,CEP170B:uc010axb.4:exon9:c.C1752T:p.A584A,	UNKNOWN	Het;C>T	758;48|38	Hom;C>T	1847;0|71
N	N	-	14	105351637	105351637	A	G	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2582549	0.566294	0	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;A>G	66;5|4	Hom;A>G	340;0|13
N	N	-	14	105351673	105351673	C	T	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs894038	0.48762	0.6619	0.7190	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;C>T	253;18|11	Hom;C>T	636;0|23
N	N	-	14	105352255	105352255	T	A	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2251389	0.5623	0	0	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;T>A	31;2|2	Hom;T>A	207;0|8
N	N	-	14	105354293	105354293	A	G	snp	synonymous SNV	A3507G	S1169S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2582548	0.563698	0.7273	0.7221	1	0	0	exonic	exonic	exonic	CEP170B	CEP170B	ENSG00000099814	synonymous SNV	synonymous SNV	unknown	CEP170B:NM_015005:exon11:c.A3507G:p.S1169S,CEP170B:NM_001112726:exon12:c.A3717G:p.S1239S,	CEP170B:uc001yps.3:exon11:c.A3507G:p.S1169S,CEP170B:uc010axb.4:exon12:c.A3717G:p.S1239S,	UNKNOWN	Het;A>G	526;23|24	Hom;A>G	1211;0|44
N	N	-	14	105356137	105356137	G	C	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2919629	0.564696	0.7221	0.6880	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;G>C	1476;70|70	Hom;G>C	3706;2|129
N	N	-	14	105359306	105359306	G	C	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs3742939	0.492612	0.6675	0.7226	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;G>C	767;23|31	Hom;G>C	1069;0|36
N	N	-	14	105359827	105359827	T	C	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2247712	0.601038	0.7668	0.7249	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;T>C	396;16|17	Hom;T>C	719;0|25
N	N	-	14	105360746	105360746	T	C	snp	intronic	 	 	 	 	CEP170B	Cep170b	ENSG00000099814	centrosomal protein 170B	chr14:105331617-105363107			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP170B	https://www.uniprot.org/uniprot/Q9Y4F5			http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B	rs2841244	0.605032	0.7646	0.7110	1	0	0	intronic	intronic	intronic	CEP170B	CEP170B	ENSG00000099814	Na	Na	Na	Na	Na	Na	Het;T>C	399;17|19	Hom;T>C	934;0|34
N	N	-	14	105393707	105393707	C	T	snp	intronic	 	 	 	 	PLD4	Pld4	ENSG00000166428	phospholipase D family member 4	chr14:105391153-105399574		Arthritis, Rheumatoid	A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur.	Role of phospholipids in phagocytosis	GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006909;phagocytosis;IEA|GO:0016042;lipid catabolic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032588;trans-Golgi network membrane;IEA|GO:0045335;phagocytic vesicle;IEA	GO:0003824;catalytic activity;IEA|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004630;phospholipase D activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0070290;N-acylphosphatidylethanolamine-specific phospholipase D activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLD4				http://www.informatics.jax.org/searchtool/Search.do?query=PLD4&submit=Quick%0D%11787ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLD4	rs879448	0.266374	0	0	1	0	0	intronic	intronic	intronic	PLD4	PLD4	ENSG00000166428	Na	Na	Na	Na	Na	Na	Het;C>T	200;6|8	Hom;C>T	272;0|9
N	N	-	14	105404384	105404384	T	C	snp	UTR3	*16A>G	 	 	 	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs1048257	0.553514	0.5828	0.5464	1	0	0	UTR3	UTR3	UTR3	AHNAK2(NM_138420:c.*16A>G)	AHNAK2(uc021sen.1:c.*16A>G,uc021seo.1:c.*16A>G,uc001ypx.2:c.*16A>G,uc010axc.1:c.*16A>G)	ENSG00000185567(ENST00000557457:c.*16A>G,ENST00000333244:c.*16A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	575;15|24	Hom;T>C	882;0|29
N	N	-	14	105405599	105405599	G	C	snp	nonsynonymous SNV	C16189G	P5397A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs3742935	0.555112	0.5843	0.5452	0.58	7	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C16189G:p.P5397A,	AHNAK2:uc021seo.1:exon3:c.C1183G:p.P395A,AHNAK2:uc021sen.1:exon1:c.C2380G:p.P794A,AHNAK2:uc001ypx.2:exon7:c.C15889G:p.P5297A,AHNAK2:uc010axc.1:exon7:c.C16189G:p.P5397A,	UNKNOWN	Het;G>C	1123;106|54	Hom;G>C	3245;2|115
N	N	-	14	105405942	105405942	G	A	snp	synonymous SNV	C840T	L280L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs28454709	0.554912	0.5854	0.5455	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C15846T:p.L5282L,	AHNAK2:uc021seo.1:exon3:c.C840T:p.L280L,AHNAK2:uc021sen.1:exon1:c.C2037T:p.L679L,AHNAK2:uc001ypx.2:exon7:c.C15546T:p.L5182L,AHNAK2:uc010axc.1:exon7:c.C15846T:p.L5282L,	UNKNOWN	Het;G>A	1961;90|91	Hom;G>A	2889;0|109
N	N	-	14	105406238	105406238	A	C	snp	nonsynonymous SNV	T15550G	Y5184D	aromatic,polar,hydrophobic	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819419	0.590855	0.6109	0.5535	0.08	1	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T15550G:p.Y5184D,	AHNAK2:uc021seo.1:exon3:c.T544G:p.Y182D,AHNAK2:uc021sen.1:exon1:c.T1741G:p.Y581D,AHNAK2:uc001ypx.2:exon7:c.T15250G:p.Y5084D,AHNAK2:uc010axc.1:exon7:c.T15550G:p.Y5184D,	UNKNOWN	Het;A>C	1805;63|68	Hom;A>C	3431;2|113
N	N	-	14	105406372	105406372	C	T	snp	nonsynonymous SNV	G15416A	G5139E	aliphatic,neutral	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs61421370	0.293131	0.4265	0.4138	0.17	2	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G15416A:p.G5139E,	AHNAK2:uc021seo.1:exon3:c.G410A:p.G137E,AHNAK2:uc021sen.1:exon1:c.G1607A:p.G536E,AHNAK2:uc001ypx.2:exon7:c.G15116A:p.G5039E,AHNAK2:uc010axc.1:exon7:c.G15416A:p.G5139E,	UNKNOWN	Het;C>T	1125;48|51	Hom;C>T	3246;0|116
N	N	-	14	105407031	105407031	A	G	snp	synonymous SNV	T948C	S316S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11623422	0.554912	0.5830	0.5460	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T14757C:p.S4919S,	AHNAK2:uc021sen.1:exon1:c.T948C:p.S316S,AHNAK2:uc001ypx.2:exon7:c.T14457C:p.S4819S,AHNAK2:uc010axc.1:exon7:c.T14757C:p.S4919S,	UNKNOWN	Het;A>G	2192;94|95	Hom;A>G	4715;0|165
N	N	-	14	105407208	105407208	T	C	snp	synonymous SNV	A771G	V257V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11851053	0.554912	0.5830	0.5483	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A14580G:p.V4860V,	AHNAK2:uc021sen.1:exon1:c.A771G:p.V257V,AHNAK2:uc001ypx.2:exon7:c.A14280G:p.V4760V,AHNAK2:uc010axc.1:exon7:c.A14580G:p.V4860V,	UNKNOWN	Het;T>C	1661;82|71	Hom;T>C	4081;2|142
N	N	-	14	105407798	105407798	T	C	snp	nonsynonymous SNV	A13990G	T4664A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs4465542	0.555112	0.5832	0.5458	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A13990G:p.T4664A,	AHNAK2:uc021sen.1:exon1:c.A181G:p.T61A,AHNAK2:uc001ypx.2:exon7:c.A13690G:p.T4564A,AHNAK2:uc010axc.1:exon7:c.A13990G:p.T4664A,	UNKNOWN	Het;T>C	1336;43|54	Hom;T>C	3330;0|118
N	N	-	14	105408030	105408030	A	G	snp	synonymous SNV	T13458C	D4486D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs9671643	0.555511	0.5849	0.5458	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T13758C:p.D4586D,	AHNAK2:uc001ypx.2:exon7:c.T13458C:p.D4486D,AHNAK2:uc010axc.1:exon7:c.T13758C:p.D4586D,	UNKNOWN	Het;A>G	700;36|33	Hom;A>G	1703;0|60
N	N	-	14	105408182	105408182	T	G	snp	nonsynonymous SNV	A13606C	M4536L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs9672139	0.527556	0.5551	0.5146	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A13606C:p.M4536L,	AHNAK2:uc001ypx.2:exon7:c.A13306C:p.M4436L,AHNAK2:uc010axc.1:exon7:c.A13606C:p.M4536L,	UNKNOWN	Het;T>G	400;9|18	Hom;T>G	1218;0|45
N	N	-	14	105408315	105408315	T	C	snp	synonymous SNV	A13173G	P4391P	hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs28600075	0.555511	0.5862	0.5458	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A13473G:p.P4491P,	AHNAK2:uc001ypx.2:exon7:c.A13173G:p.P4391P,AHNAK2:uc010axc.1:exon7:c.A13473G:p.P4491P,	UNKNOWN	Het;T>C	337;14|8	Hom;T>C	643;0|21
N	N	-	14	105408811	105408811	A	G	snp	nonsynonymous SNV	T12977C	L4326P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819421	0.555112	0.5822	0.5436	0.08	1	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T12977C:p.L4326P,	AHNAK2:uc001ypx.2:exon7:c.T12677C:p.L4226P,AHNAK2:uc010axc.1:exon7:c.T12977C:p.L4326P,	UNKNOWN	Het;A>G	399;9|16	Hom;A>G	814;0|29
N	N	-	14	105408827	105408827	A	C	snp	nonsynonymous SNV	T12961G	L4321V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11850949	0.530751	0.5617	0.5389	0.15	2	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T12961G:p.L4321V,	AHNAK2:uc001ypx.2:exon7:c.T12661G:p.L4221V,AHNAK2:uc010axc.1:exon7:c.T12961G:p.L4321V,	UNKNOWN	Het;A>C	379;9|14	Hom;A>C	853;0|29
N	N	-	14	105408955	105408955	A	G	snp	nonsynonymous SNV	T12833C	V4278A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819422	0.580671	0.6048	0.5518	0.09	1	11	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T12833C:p.V4278A,	AHNAK2:uc001ypx.2:exon7:c.T12533C:p.V4178A,AHNAK2:uc010axc.1:exon7:c.T12833C:p.V4278A,	UNKNOWN	Het;A>G	559;31|30	Hom;A>G	1816;0|67
N	N	-	14	105409907	105409907	T	C	snp	nonsynonymous SNV	A11881G	M3961V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10141053	0.245807	0.3709	0.3986	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A11881G:p.M3961V,	AHNAK2:uc001ypx.2:exon7:c.A11581G:p.M3861V,AHNAK2:uc010axc.1:exon7:c.A11881G:p.M3961V,	UNKNOWN	Het;T>C	424;29|21	Hom;T>C	1024;0|37
N	N	-	14	105409959	105409959	G	T	snp	synonymous SNV	C11529A	A3843A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10152073	0.554313	0.5852	0.5443	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C11829A:p.A3943A,	AHNAK2:uc001ypx.2:exon7:c.C11529A:p.A3843A,AHNAK2:uc010axc.1:exon7:c.C11829A:p.A3943A,	UNKNOWN	Het;G>T	470;35|26	Hom;G>T	1243;0|45
N	N	-	14	105410183	105410183	T	C	snp	nonsynonymous SNV	A11605G	M3869V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10438246	0.555911	0.5881	0.5462	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A11605G:p.M3869V,	AHNAK2:uc001ypx.2:exon7:c.A11305G:p.M3769V,AHNAK2:uc010axc.1:exon7:c.A11605G:p.M3869V,	UNKNOWN	Het;T>C	1011;56|51	Hom;T>C	2612;0|96
N	N	-	14	105410411	105410411	C	T	snp	nonsynonymous SNV	G11377A	D3793N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11160825	0.54972	0.5808	0.5304	0.38	5	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G11377A:p.D3793N,	AHNAK2:uc001ypx.2:exon7:c.G11077A:p.D3693N,AHNAK2:uc010axc.1:exon7:c.G11377A:p.D3793N,	UNKNOWN	Het;C>T	319;16|16	Hom;C>T	852;0|32
N	N	-	14	105410775	105410775	A	G	snp	synonymous SNV	T10713C	D3571D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819424	0.585863	0.6073	0.5528	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T11013C:p.D3671D,	AHNAK2:uc001ypx.2:exon7:c.T10713C:p.D3571D,AHNAK2:uc010axc.1:exon7:c.T11013C:p.D3671D,	UNKNOWN	Het;A>G	1087;41|46	Hom;A>G	1586;0|57
N	N	-	14	105410827	105410827	C	T	snp	nonsynonymous SNV	G10961A	G3654E	aliphatic,neutral	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs28380382	0.552516	0.5851	0.5448	0.25	3	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G10961A:p.G3654E,	AHNAK2:uc001ypx.2:exon7:c.G10661A:p.G3554E,AHNAK2:uc010axc.1:exon7:c.G10961A:p.G3654E,	UNKNOWN	Het;C>T	654;33|30	Hom;C>T	1738;2|64
N	N	-	14	105411153	105411153	G	A	snp	synonymous SNV	C10335T	P3445P	hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs34499888	0.240615	0.3736	0.3869	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C10635T:p.P3545P,	AHNAK2:uc001ypx.2:exon7:c.C10335T:p.P3445P,AHNAK2:uc010axc.1:exon7:c.C10635T:p.P3545P,	UNKNOWN	Het;G>A	451;33|26	Hom;G>A	1029;1|39
N	N	-	14	105411700	105411700	A	G	snp	nonsynonymous SNV	T10088C	V3363A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs4264326	0.563498	0.5963	0.5493	0.15	2	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T10088C:p.V3363A,	AHNAK2:uc001ypx.2:exon7:c.T9788C:p.V3263A,AHNAK2:uc010axc.1:exon7:c.T10088C:p.V3363A,	UNKNOWN	Het;A>G	589;34|27	Hom;A>G	1637;2|61
N	N	-	14	105411781	105411781	G	A	snp	nonsynonymous SNV	C10007T	P3336L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10438247	0.538538	0.5795	0.5416	0.58	7	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C10007T:p.P3336L,	AHNAK2:uc001ypx.2:exon7:c.C9707T:p.P3236L,AHNAK2:uc010axc.1:exon7:c.C10007T:p.P3336L,	UNKNOWN	Het;G>A	335;19|16	Hom;G>A	756;0|26
N	N	-	14	105411957	105411957	G	A	snp	synonymous SNV	C9531T	D3177D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs373797895	0	0	0.2701	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C9831T:p.D3277D,	AHNAK2:uc001ypx.2:exon7:c.C9531T:p.D3177D,AHNAK2:uc010axc.1:exon7:c.C9831T:p.D3277D,	UNKNOWN	Het;G>A	257;53|13	Hom;G>A	358;0|10
N	N	-	14	105411971	105411971	T	C	snp	nonsynonymous SNV	A9817G	S3273G	polar,hydrophilic,neutral	aliphatic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs28737397	0.261581	0.0449	0.0051	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A9817G:p.S3273G,	AHNAK2:uc001ypx.2:exon7:c.A9517G:p.S3173G,AHNAK2:uc010axc.1:exon7:c.A9817G:p.S3273G,	UNKNOWN	Het;T>C	160;48|8	Hom;T>C	309;0|7
N	N	-	14	105412066	105412066	C	T	snp	nonsynonymous SNV	G9722A	R3241H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs77154428	0	0	0.4880	0.17	2	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G9722A:p.R3241H,	AHNAK2:uc001ypx.2:exon7:c.G9422A:p.R3141H,AHNAK2:uc010axc.1:exon7:c.G9722A:p.R3241H,	UNKNOWN	Het;C>T	79;15|6	Hom;C>T	171;0|7
N	N	-	14	105412541	105412541	C	T	snp	nonsynonymous SNV	G9247A	V3083I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs12433837	0.51857	0.2635	0.4508	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G9247A:p.V3083I,	AHNAK2:uc001ypx.2:exon7:c.G8947A:p.V2983I,AHNAK2:uc010axc.1:exon7:c.G9247A:p.V3083I,	UNKNOWN	Het;C>T	808;22|22	Hom;C>T	782;0|18
N	N	-	14	105412542	105412542	A	G	snp	synonymous SNV	T8946C	D2982D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs12433815	0.517572	0.2606	0.4487	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T9246C:p.D3082D,	AHNAK2:uc001ypx.2:exon7:c.T8946C:p.D2982D,AHNAK2:uc010axc.1:exon7:c.T9246C:p.D3082D,	UNKNOWN	Het;A>G	808;22|21	Hom;A>G	782;0|18
N	N	-	14	105412554	105412554	T	G	snp	synonymous SNV	A8934C	G2978G	aliphatic,neutral	aliphatic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs12436986	0.514976	0.2904	0.4803	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A9234C:p.G3078G,	AHNAK2:uc001ypx.2:exon7:c.A8934C:p.G2978G,AHNAK2:uc010axc.1:exon7:c.A9234C:p.G3078G,	UNKNOWN	Het;T>G	665;19|17	Hom;T>G	535;0|11
N	N	-	14	105412561	105412561	C	T	snp	nonsynonymous SNV	G9227A	R3076H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs3000771	0	0	0.4952	0.17	2	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G9227A:p.R3076H,	AHNAK2:uc001ypx.2:exon7:c.G8927A:p.R2976H,AHNAK2:uc010axc.1:exon7:c.G9227A:p.R3076H,	UNKNOWN	Het;C>T	498;18|15	Hom;C>T	490;0|12
N	N	-	14	105413204	105413204	G	T	snp	nonsynonymous SNV	C8584A	R2862S	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2582514	0.567093	0.5945	0.5477	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C8584A:p.R2862S,	AHNAK2:uc001ypx.2:exon7:c.C8284A:p.R2762S,AHNAK2:uc010axc.1:exon7:c.C8584A:p.R2862S,	UNKNOWN	Het;G>T	1446;80|44	Hom;G>T	4888;0|111
N	N	-	14	105413223	105413223	A	G	snp	synonymous SNV	T8265C	D2755D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs55797226	0.527157	0.5543	0.5379	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T8565C:p.D2855D,	AHNAK2:uc001ypx.2:exon7:c.T8265C:p.D2755D,AHNAK2:uc010axc.1:exon7:c.T8565C:p.D2855D,	UNKNOWN	Het;A>G	1462;78|46	Hom;A>G	4850;0|114
N	N	-	14	105413790	105413790	G	A	snp	synonymous SNV	C7698T	S2566S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11848564	0.350439	0.4829	0.4258	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C7998T:p.S2666S,	AHNAK2:uc001ypx.2:exon7:c.C7698T:p.S2566S,AHNAK2:uc010axc.1:exon7:c.C7998T:p.S2666S,	UNKNOWN	Het;G>A	1844;82|87	Hom;G>A	4564;0|164
N	N	-	14	105414238	105414238	C	A	snp	nonsynonymous SNV	G7550T	G2517V	aliphatic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs60754080	0.480232	0.5507	0.5029	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G7550T:p.G2517V,	AHNAK2:uc001ypx.2:exon7:c.G7250T:p.G2417V,AHNAK2:uc010axc.1:exon7:c.G7550T:p.G2517V,	UNKNOWN	Het;C>A	259;43|10	Hom;C>A	825;1|20
N	N	-	14	105414252	105414252	C	T	snp	synonymous SNV	G7236A	K2412K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs60106058	0.454872	0.5284	0.4944	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G7536A:p.K2512K,	AHNAK2:uc001ypx.2:exon7:c.G7236A:p.K2412K,AHNAK2:uc010axc.1:exon7:c.G7536A:p.K2512K,	UNKNOWN	Het;C>T	418;41|16	Hom;C>T	1091;1|28
N	N	-	14	105414629	105414629	G	A	snp	nonsynonymous SNV	C7159T	P2387S	hydrophobic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs72702027	0.531949	0.5632	0.5415	0.58	7	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C7159T:p.P2387S,	AHNAK2:uc001ypx.2:exon7:c.C6859T:p.P2287S,AHNAK2:uc010axc.1:exon7:c.C7159T:p.P2387S,	UNKNOWN	Het;G>A	265;24|13	Hom;G>A	829;0|31
N	N	-	14	105414790	105414790	A	G	snp	nonsynonymous SNV	T6998C	L2333P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2582513	0.563099	0.5847	0.5512	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T6998C:p.L2333P,	AHNAK2:uc001ypx.2:exon7:c.T6698C:p.L2233P,AHNAK2:uc010axc.1:exon7:c.T6998C:p.L2333P,	UNKNOWN	Het;A>G	499;16|22	Hom;A>G	1064;1|35
N	N	-	14	105414810	105414810	C	G	snp	synonymous SNV	G6678C	L2226L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10145032	0.532348	0.5610	0.5435	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G6978C:p.L2326L,	AHNAK2:uc001ypx.2:exon7:c.G6678C:p.L2226L,AHNAK2:uc010axc.1:exon7:c.G6978C:p.L2326L,	UNKNOWN	Het;C>G	571;17|23	Hom;C>G	1021;1|37
N	N	-	14	105415745	105415745	C	G	snp	nonsynonymous SNV	G6043C	A2015P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs117379881	0.277157	0.4201	0.4482	0.33	4	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G6043C:p.A2015P,	AHNAK2:uc001ypx.2:exon7:c.G5743C:p.A1915P,AHNAK2:uc010axc.1:exon7:c.G6043C:p.A2015P,	UNKNOWN	Het;C>G	613;38|18	Hom;C>G	2211;0|49
N	N	-	14	105415748	105415748	G	A	snp	nonsynonymous SNV	C6040T	P2014S	hydrophobic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs118171013	0.300319	0.4410	0.4598	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C6040T:p.P2014S,	AHNAK2:uc001ypx.2:exon7:c.C5740T:p.P1914S,AHNAK2:uc010axc.1:exon7:c.C6040T:p.P2014S,	UNKNOWN	Het;G>A	613;38|18	Hom;G>A	2260;0|51
N	N	-	14	105416010	105416010	T	C	snp	synonymous SNV	A5478G	T1826T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2582511	0.583466	0.6425	0.5890	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A5778G:p.T1926T,	AHNAK2:uc001ypx.2:exon7:c.A5478G:p.T1826T,AHNAK2:uc010axc.1:exon7:c.A5778G:p.T1926T,	UNKNOWN	Het;T>C	608;31|27	Hom;T>C	1569;0|53
N	N	-	14	105416649	105416649	G	A	snp	synonymous SNV	C4839T	A1613A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs28593209	0.276957	0.4144	0.4494	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C5139T:p.A1713A,	AHNAK2:uc001ypx.2:exon7:c.C4839T:p.A1613A,AHNAK2:uc010axc.1:exon7:c.C5139T:p.A1713A,	UNKNOWN	Het;G>A	1049;50|51	Hom;G>A	2276;0|81
N	N	-	14	105416685	105416685	C	G	snp	synonymous SNV	G4803C	L1601L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2582506	0.00219649	0.6909	0.6347	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G5103C:p.L1701L,	AHNAK2:uc001ypx.2:exon7:c.G4803C:p.L1601L,AHNAK2:uc010axc.1:exon7:c.G5103C:p.L1701L,	UNKNOWN	Het;C>G	1229;47|52	Hom;C>G	1860;0|64
N	N	-	14	105416959	105416959	A	G	snp	nonsynonymous SNV	T4829C	V1610A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2013462	0.56889	0.6093	0.5797	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T4829C:p.V1610A,	AHNAK2:uc001ypx.2:exon7:c.T4529C:p.V1510A,AHNAK2:uc010axc.1:exon7:c.T4829C:p.V1610A,	UNKNOWN	Het;A>G	186;9|9	Hom;A>G	750;0|26
N	N	-	14	105417102	105417102	T	C	snp	synonymous SNV	A4386G	P1462P	hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2248966	0.55611	0.6094	0.5793	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A4686G:p.P1562P,	AHNAK2:uc001ypx.2:exon7:c.A4386G:p.P1462P,AHNAK2:uc010axc.1:exon7:c.A4686G:p.P1562P,	UNKNOWN	Het;T>C	773;27|21	Hom;T>C	2534;2|60
N	N	-	14	105417103	105417103	G	A	snp	nonsynonymous SNV	C4685T	P1562L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs61996045	0.28155	0.4161	0.4499	0.50	6	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C4685T:p.P1562L,	AHNAK2:uc001ypx.2:exon7:c.C4385T:p.P1462L,AHNAK2:uc010axc.1:exon7:c.C4685T:p.P1562L,	UNKNOWN	Het;G>A	773;27|21	Hom;G>A	2534;2|59
N	N	-	14	105417147	105417147	A	G	snp	synonymous SNV	T4341C	S1447S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2013445	0.429113	0.4692	0.5175	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T4641C:p.S1547S,	AHNAK2:uc001ypx.2:exon7:c.T4341C:p.S1447S,AHNAK2:uc010axc.1:exon7:c.T4641C:p.S1547S,	UNKNOWN	Het;A>G	290;19|16	Hom;A>G	1398;0|53
N	N	-	14	105417222	105417222	C	T	snp	synonymous SNV	G4266A	K1422K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2013274	0.226837	0.1707	0.3345	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G4566A:p.K1522K,	AHNAK2:uc001ypx.2:exon7:c.G4266A:p.K1422K,AHNAK2:uc010axc.1:exon7:c.G4566A:p.K1522K,	UNKNOWN	Het;C>T	290;20|9	Hom;C>T	1322;0|30
N	N	-	14	105417225	105417225	C	G	snp	synonymous SNV	G4263C	P1421P	hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2894635	0.242812	0	0.3256	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G4563C:p.P1521P,	AHNAK2:uc001ypx.2:exon7:c.G4263C:p.P1421P,AHNAK2:uc010axc.1:exon7:c.G4563C:p.P1521P,	UNKNOWN	Het;C>G	290;20|9	Hom;C>G	1322;0|30
N	N	-	14	105417228	105417228	C	T	snp	synonymous SNV	G4260A	A1420A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2248960	0.295327	0.1900	0.3190	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G4560A:p.A1520A,	AHNAK2:uc001ypx.2:exon7:c.G4260A:p.A1420A,AHNAK2:uc010axc.1:exon7:c.G4560A:p.A1520A,	UNKNOWN	Het;C>T	284;22|9	Hom;C>T	1322;0|29
N	N	-	14	105417243	105417243	T	C	snp	synonymous SNV	A4245G	S1415S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs77111827	0.241214	0	0.3206	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A4545G:p.S1515S,	AHNAK2:uc001ypx.2:exon7:c.A4245G:p.S1415S,AHNAK2:uc010axc.1:exon7:c.A4545G:p.S1515S,	UNKNOWN	Het;T>C	281;23|9	Hom;T>C	1187;0|26
N	N	-	14	105418260	105418260	T	A	snp	synonymous SNV	A3228T	S1076S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs56330864	0.00778754	0.4192	0.4729	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A3528T:p.S1176S,	AHNAK2:uc001ypx.2:exon7:c.A3228T:p.S1076S,AHNAK2:uc010axc.1:exon7:c.A3528T:p.S1176S,	UNKNOWN	Het;T>A	530;23|15	Hom;T>A	692;1|15
N	N	-	14	105418264	105418264	G	A	snp	nonsynonymous SNV	C3524T	A1175V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs55650155	0.382987	0.4288	0.4796	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C3524T:p.A1175V,	AHNAK2:uc001ypx.2:exon7:c.C3224T:p.A1075V,AHNAK2:uc010axc.1:exon7:c.C3524T:p.A1175V,	UNKNOWN	Het;G>A	572;24|16	Hom;G>A	692;1|17
N	N	-	14	105418275	105418275	T	C	snp	synonymous SNV	A3213G	P1071P	hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819441	0.0233626	0.2452	0.2701	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A3513G:p.P1171P,	AHNAK2:uc001ypx.2:exon7:c.A3213G:p.P1071P,AHNAK2:uc010axc.1:exon7:c.A3513G:p.P1171P,	UNKNOWN	Het;T>C	565;27|17	Hom;T>C	874;2|23
N	N	-	14	105418344	105418344	T	G	snp	nonsynonymous SNV	A3444C	E1148D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs55791176	0.00179712	0.4899	0.5064	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A3444C:p.E1148D,	AHNAK2:uc001ypx.2:exon7:c.A3144C:p.E1048D,AHNAK2:uc010axc.1:exon7:c.A3444C:p.E1148D,	UNKNOWN	Het;T>G	736;49|34	Hom;T>G	1170;2|43
N	N	-	14	105418391	105418391	C	T	snp	nonsynonymous SNV	G3397A	V1133I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11625007	0	0.4859	0.4752	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G3397A:p.V1133I,	AHNAK2:uc001ypx.2:exon7:c.G3097A:p.V1033I,AHNAK2:uc010axc.1:exon7:c.G3397A:p.V1133I,	UNKNOWN	Het;C>T	697;59|39	Hom;C>T	1097;2|47
N	N	-	14	105420927	105420927	A	G	snp	synonymous SNV	T561C	P187P	hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs879210	0.314696	0.4252	0.4083	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T861C:p.P287P,	AHNAK2:uc001ypx.2:exon7:c.T561C:p.P187P,AHNAK2:uc010axc.1:exon7:c.T861C:p.P287P,	UNKNOWN	Het;A>G	1550;86|72	Hom;A>G	3337;4|129
N	N	-	14	105421050	105421050	T	G	snp	synonymous SNV	A438C	P146P	hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs879209	0.309704	0.4183	0.4050	1	0	0	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	synonymous SNV	synonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A738C:p.P246P,	AHNAK2:uc001ypx.2:exon7:c.A438C:p.P146P,AHNAK2:uc010axc.1:exon7:c.A738C:p.P246P,	UNKNOWN	Het;T>G	813;54|39	Hom;T>G	2271;2|82
N	N	-	14	105421236	105421253	CAGCCAGCAGGGTAGTGA	C	indel	intronic	 	 	 	 	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs374088705	0.305511	0	0	1	0	0	intronic	intronic	intronic	AHNAK2	AHNAK2	ENSG00000185567	Na	Na	Na	Na	Na	Na	Het;-AGCCAGCAGGGTAGTGA	259;21|9	Hom;-AGCCAGCAGGGTAGTGA	774;0|18
N	N	-	14	105565770	105565770	C	T	snp	ncRNA_exonic	 	 	 	 	LOC102723354																		rs11621606	0.432308	0	0	1	0	0	ncRNA_exonic	intergenic	downstream	LOC102723354	GPR132(dist=34016),JAG2(dist=41548)	ENSG00000257556	Na	Na	Na	Na	Na	Na	Het;C>T	66;2|3	Hom;C>T	265;0|10
N	N	-	14	105715515	105715515	C	T	snp	synonymous SNV	C237T	N79N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	BTBD6	Btbd6	ENSG00000184887	BTB domain containing 6	chr14:105714827-105717430			 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0022008;neurogenesis;IBA|GO:0030162;regulation of proteolysis;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS	GO:0000932;P-body;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IBA	GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/BTBD6				http://www.informatics.jax.org/searchtool/Search.do?query=BTBD6&submit=Quick%0D%15287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD6	rs2816605	0.159145	0.1939	0.2674	1	0	0	exonic	exonic	exonic	BTBD6	BTBD6	ENSG00000184887	synonymous SNV	synonymous SNV	unknown	BTBD6:NM_033271:exon3:c.C237T:p.N79N,	BTBD6:uc010tyq.2:exon3:c.C237T:p.N79N,	UNKNOWN	Het;C>T	669;32|33	Hom;C>T	1687;0|66
N	N	-	14	105716034	105716034	C	T	snp	synonymous SNV	C483T	Y161Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	BTBD6	Btbd6	ENSG00000184887	BTB domain containing 6	chr14:105714827-105717430			 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0022008;neurogenesis;IBA|GO:0030162;regulation of proteolysis;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS	GO:0000932;P-body;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IBA	GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/BTBD6				http://www.informatics.jax.org/searchtool/Search.do?query=BTBD6&submit=Quick%0D%15287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD6	rs2816606	0.183107	0.2285	0.2476	1	0	0	exonic	exonic	exonic	BTBD6	BTBD6	ENSG00000184887	synonymous SNV	synonymous SNV	unknown	BTBD6:NM_033271:exon5:c.C483T:p.Y161Y,	BTBD6:uc010tyq.2:exon5:c.C483T:p.Y161Y,	UNKNOWN	Het;C>T	814;57|40	Hom;C>T	2493;0|90
N	N	-	14	105722726	105722726	T	C	snp	synonymous SNV	A600G	P200P	hydrophobic,neutral	hydrophobic,neutral	BRF1	Brf1	ENSG00000185024	BRF1, RNA polymerase III transcription initiation factor subunit	chr14:105675623-105781926	This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]	Platelet Count	 	RNA Polymerase III Transcription Initiation From Type 2 Promoter	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006359;regulation of transcription from RNA polymerase III promoter;IEA|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0006384;transcription initiation from RNA polymerase III promoter;TAS|GO:0006413;translational initiation;IEA|GO:0009303;rRNA transcription;TAS|GO:0009304;tRNA transcription;TAS|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IEA|GO:0070897;DNA-templated transcriptional preinitiation complex assembly;IEA	GO:0000126;transcription factor TFIIIB complex;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0001026;TFIIIB-type transcription factor activity;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0017025;TBP-class protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRF1		https://hpo.jax.org/app/browse/search?q=BRF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604902	http://www.informatics.jax.org/searchtool/Search.do?query=BRF1&submit=Quick%0D%15325ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRF1	rs1008628	0.222644	0	0.3709	1	0	0	exonic	exonic	exonic	BRF1	BRF1	ENSG00000185024	synonymous SNV	synonymous SNV	unknown	BRF1:NM_001242790:exon4:c.A600G:p.P200P,	BRF1:uc001yqr.3:exon4:c.A600G:p.P200P,	UNKNOWN	Het;T>C	1123;71|56	Hom;T>C	4832;0|136
N	N	-	14	105722976	105722976	G	C	snp	intronic	 	 	 	 	BRF1	Brf1	ENSG00000185024	BRF1, RNA polymerase III transcription initiation factor subunit	chr14:105675623-105781926	This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]	Platelet Count	 	RNA Polymerase III Transcription Initiation From Type 2 Promoter	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006359;regulation of transcription from RNA polymerase III promoter;IEA|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0006384;transcription initiation from RNA polymerase III promoter;TAS|GO:0006413;translational initiation;IEA|GO:0009303;rRNA transcription;TAS|GO:0009304;tRNA transcription;TAS|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IEA|GO:0070897;DNA-templated transcriptional preinitiation complex assembly;IEA	GO:0000126;transcription factor TFIIIB complex;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0001026;TFIIIB-type transcription factor activity;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0017025;TBP-class protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRF1		https://hpo.jax.org/app/browse/search?q=BRF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604902	http://www.informatics.jax.org/searchtool/Search.do?query=BRF1&submit=Quick%0D%15325ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRF1	rs2816611	0.222644	0	0	1	0	0	intronic	intronic	intronic	BRF1	BRF1	ENSG00000185024	Na	Na	Na	Na	Na	Na	Het;G>C	456;8|18	Hom;G>C	671;0|19
N	N	-	14	106092003	106092003	C	A	snp	ncRNA_intronic	 	 	 	 	IGH@																		rs4983479	0.434505	0	0	1	0	0	intergenic	ncRNA_intronic	intronic	MIR8071-2(dist=4486),MIR8071-2(dist=14502)	IGH@,abParts	ENSG00000211892	Na	Na	Na	Na	Na	Na	Het;C>A	36;4|3	Hom;C>A	185;0|6
N	N	-	14	106092383	106092383	C	G	snp	unknown	 	 	 	 	IGHG4		ENSG00000277016	immunoglobulin heavy constant gamma 4 (G4m marker)	chr14:106090687-106092403				Regulation of Complement cascade	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0034987;immunoglobulin receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGHG4			https://www.ncbi.nlm.nih.gov/omim/?term=147130	http://www.informatics.jax.org/searchtool/Search.do?query=IGHG4&submit=Quick%0D%21736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGHG4	rs12434110	0.492212	0	0.7197	1	0	0	intergenic	ncRNA_exonic	exonic	MIR8071-2(dist=4866),MIR8071-2(dist=14122)	abParts	ENSG00000211892	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>G	406;3|16	Hom;C>G	578;0|20
N	N	-	14	106106505	106106505	C	T	snp	ncRNA_exonic	 	 	 	 	MIR8071-1																		rs55639742	0	0	0.45	1	0	0	ncRNA_exonic	ncRNA_intronic	intergenic	MIR8071-1,MIR8071-2	IGH@,abParts	ENSG00000211892(dist=14102),ENSG00000211893(dist=2884)	Na	Na	Na	Na	Na	Na	Het;C>T	1089;46|55	Hom;C>T	2093;0|80
N	N	-	14	106110966	106110966	C	T	snp	unknown	 	 	 	 	IGHG2		ENSG00000274497	immunoglobulin heavy constant gamma 2 (G2m marker)	chr14:106109389-106111127		Dermatomyositis|Polymyositis		Regulation of Complement cascade	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0034987;immunoglobulin receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGHG2			https://www.ncbi.nlm.nih.gov/omim/?term=147110	http://www.informatics.jax.org/searchtool/Search.do?query=IGHG2&submit=Quick%0D%21129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGHG2	rs11557955	0.436701	0.4231	0.5166	1	0	0	intergenic	ncRNA_exonic	exonic	MIR8071-2(dist=4397),ELK2AP(dist=24948)	abParts	ENSG00000211893	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	1364;42|63	Hom;C>T	1948;0|73
N	N	-	14	106209538	106209538	G	A	snp	upstream	 	 	 	 	IGHG1		ENSG00000277633	immunoglobulin heavy constant gamma 1 (G1m marker)	chr14:106202680-106209408		null; atopy; Crohn Disease; Dermatomyositis|Polymyositis; sarcoidosis; Helicobacter Infections|Purpura, Thrombocytopenic, Idiopathic; Sjogren's syndrome; asthma	Mutant mice are viable and fertile but show impaired primary and secondary Igh-4 immune responses.	Regulation of Complement cascade	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0034987;immunoglobulin receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGHG1			https://www.ncbi.nlm.nih.gov/omim/?term=147100	http://www.informatics.jax.org/searchtool/Search.do?query=IGHG1&submit=Quick%0D%21873ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGHG1	rs28490894	0	0	0	1	0	0	intergenic	ncRNA_intronic	upstream	ELK2AP(dist=70394),MIR4507(dist=114755)	IGH@,IGHCgamma1,abParts	ENSG00000211896	Na	Na	Na	Na	Na	Na	Het;G>A	253;4|13	Hom;G>A	126;0|5
N	N	-	14	106209558	106209558	G	C	snp	upstream	 	 	 	 	IGHG1		ENSG00000277633	immunoglobulin heavy constant gamma 1 (G1m marker)	chr14:106202680-106209408		null; atopy; Crohn Disease; Dermatomyositis|Polymyositis; sarcoidosis; Helicobacter Infections|Purpura, Thrombocytopenic, Idiopathic; Sjogren's syndrome; asthma	Mutant mice are viable and fertile but show impaired primary and secondary Igh-4 immune responses.	Regulation of Complement cascade	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0034987;immunoglobulin receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGHG1			https://www.ncbi.nlm.nih.gov/omim/?term=147100	http://www.informatics.jax.org/searchtool/Search.do?query=IGHG1&submit=Quick%0D%21873ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGHG1	rs28478304	0	0	0	1	0	0	intergenic	ncRNA_intronic	upstream	ELK2AP(dist=70414),MIR4507(dist=114735)	IGH@,IGHCgamma1,abParts	ENSG00000211896	Na	Na	Na	Na	Na	Na	Het;G>C	207;4|9	Hom;G>C	109;0|4
N	N	-	14	106325280	106325280	T	C	snp	upstream;downstream	 	 	 	 	ENSG00000263751																		rs11160884	0.621605	0	0	1	0	0	upstream;downstream	ncRNA_intronic	upstream;downstream	MIR4507,MIR4537,MIR4538;MIR4537	IGH@,abParts	ENSG00000263751,ENSG00000264473,ENSG00000266408;ENSG00000264781,ENSG00000265714	Na	Na	Na	Na	Na	Na	Het;T>C	180;9|9	Hom;T>C	478;0|18
N	N	-	14	106326733	106326733	A	G	snp	upstream	 	 	 	 	MIR4539																		rs980847	0	0	0	1	0	0	upstream	ncRNA_intronic	upstream	MIR4539	AK128652,IGH@,abParts	ENSG00000265714	Na	Na	Na	Na	Na	Na	Het;A>G	148;7|7	Hom;A>G	725;0|25
N	N	-	14	106395306	106395306	G	A	snp	ncRNA_exonic	 	 	 	 	KIAA0125																		rs3094082	0.247005	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	intergenic	KIAA0125	abParts	ENSG00000226777(dist=6775),ENSG00000211933(dist=10305)	Na	Na	Na	Na	Na	Na	Het;G>A	960;64|44	Hom;G>A	2610;0|92
N	N	-	14	19122780	19122780	A	T	snp	intergenic	 	 	 	 	RNU6-458P																		rs28524779	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),OR11H12(dist=254814)	NONE(dist=NONE),OR11H12(dist=254814)	ENSG00000206906(dist=3159),ENSG00000257171(dist=49323)	Na	Na	Na	Na	Na	Na	Het;A>T	89;3|4	Hom;A>T	210;0|8
N	N	-	14	19124973	19124973	A	G	snp	intergenic	 	 	 	 	RNU6-458P																		rs28880623	0.46865	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),OR11H12(dist=252621)	NONE(dist=NONE),OR11H12(dist=252621)	ENSG00000206906(dist=5352),ENSG00000257171(dist=47130)	Na	Na	Na	Na	Na	Na	Het;A>G	51;1|3	Hom;A>G	96;0|3
N	N	-	14	20666175	20666175	C	CA	indel	frameshift substitution	681_681delinsCA	 	 	 	OR11G2	Olfr744	ENSG00000196832	olfactory receptor family 11 subfamily G member 2	chr14:20665495-20666605	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Cholesterol, HDL	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR11G2				http://www.informatics.jax.org/searchtool/Search.do?query=OR11G2&submit=Quick%0D%16475ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR11G2	rs398077614	0	0.6947	0.6774	1	0	0	exonic	exonic	exonic	OR11G2	OR11G2	ENSG00000196832	frameshift substitution	frameshift substitution	unknown	OR11G2:NM_001005503:exon1:c.681_681delinsCA,	OR11G2:uc010tlb.2:exon1:c.681_681delinsCA,	UNKNOWN	Het;+A	1830;93|81	Hom;+A	4776;2|158
N	N	-	14	20767618	20767618	G	A	snp	intronic	 	 	 	 	TTC5	Ttc5	ENSG00000136319	tetratricopeptide repeat domain 5	chr14:20724717-20774153			 	Regulation of TP53 Activity through Methylation	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC5	https://www.uniprot.org/uniprot/Q8N0Z6			http://www.informatics.jax.org/searchtool/Search.do?query=TTC5&submit=Quick%0D%7331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC5	rs2318864	0.729433	0.7515	0.7278	1	0	0	intronic	intronic	intronic	TTC5	TTC5	ENSG00000136319	Na	Na	Na	Na	Na	Na	Het;G>A	1154;49|51	Hom;G>A	3295;2|123
N	N	-	14	20784718	20784718	G	T	snp	unknown	 	 	 	 	CCNB1IP1	Ccnb1ip1	ENSG00000100814	cyclin B1 interacting protein 1	chr14:20779527-20801471	HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]	Alcohol Drinking	Mice homozygous for an ENU-induced mutation have abnormal testicular and ovarian morphology and exhibit sterility in both sexes owing to meiotic defects.		GO:0001825;blastocyst formation;IEA|GO:0007131;reciprocal meiotic recombination;IBA|GO:0007286;spermatid development;IEA|GO:0016567;protein ubiquitination;IEA|GO:0051026;chiasma assembly;ISS|GO:0051321;meiotic cell cycle;IEA	GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;ISS|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCNB1IP1	https://www.uniprot.org/uniprot/Q9NPC3		https://www.ncbi.nlm.nih.gov/omim/?term=608249	http://www.informatics.jax.org/searchtool/Search.do?query=CCNB1IP1&submit=Quick%0D%2602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNB1IP1	rs1132644	0.595647	0.5712	0.5485	0.12	1	8	UTR5	UTR5	exonic	CCNB1IP1(NM_182852:c.-36C>A,NM_182849:c.-36C>A,NM_021178:c.-36C>A)	CCNB1IP1(uc001vwv.4:c.-36C>A,uc001vwx.4:c.-36C>A,uc021rnp.2:c.-36C>A,uc001vwy.4:c.-36C>A,uc001vwz.4:c.-36C>A)	ENSG00000100814	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>T	553;28|24	Hom;G>T	1179;0|42
N	N	-	14	20837701	20837701	G	C	snp	nonsynonymous SNV	C7458G	I2486M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs938886	0.339257	0.2849	0.2626	0.08	1	13	exonic	exonic	exonic	TEP1	TEP1	ENSG00000129566	nonsynonymous SNV	nonsynonymous SNV	unknown	TEP1:NM_007110:exon53:c.C7458G:p.I2486M,	TEP1:uc010ahk.3:exon41:c.C5487G:p.I1829M,TEP1:uc010tlg.1:exon51:c.C7134G:p.I2378M,TEP1:uc001vxe.3:exon53:c.C7458G:p.I2486M,	UNKNOWN	Het;G>C	1015;62|45	Hom;G>C	2756;2|97
N	N	-	14	20841162	20841162	C	T	snp	intronic	 	 	 	 	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs1760909	0.320288	0.2682	0.2573	1	0	0	intronic	intronic	intronic	TEP1	TEP1	ENSG00000129566	Na	Na	Na	Na	Na	Na	Het;C>T	500;34|29	Hom;C>T	1365;0|47
N	N	-	14	20841313	20841313	G	A	snp	intronic	 	 	 	 	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs1713448	0.379393	0.3279	0.2758	1	0	0	intronic	intronic	intronic	TEP1	TEP1	ENSG00000129566	Na	Na	Na	Na	Na	Na	Het;G>A	711;68|39	Hom;G>A	3678;2|136
N	N	-	14	20841707	20841707	C	T	snp	nonsynonymous SNV	G6640A	V2214I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs1713449	0.324081	0.2747	0.2579	0.23	3	13	exonic	exonic	exonic	TEP1	TEP1	ENSG00000129566	nonsynonymous SNV	nonsynonymous SNV	unknown	TEP1:NM_007110:exon46:c.G6640A:p.V2214I,	TEP1:uc010ahk.3:exon34:c.G4669A:p.V1557I,TEP1:uc010tlg.1:exon44:c.G6316A:p.V2106I,TEP1:uc001vxe.3:exon46:c.G6640A:p.V2214I,TEP1:uc010tlh.1:exon17:c.G1654A:p.V552I,	UNKNOWN	Het;C>T	1046;58|52	Hom;C>T	2513;0|97
N	N	-	14	20843889	20843889	G	A	snp	intronic	 	 	 	 	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs1760908	0.29393	0.2695	0.2615	1	0	0	intronic	intronic	intronic	TEP1	TEP1	ENSG00000129566	Na	Na	Na	Na	Na	Na	Het;G>A	957;32|44	Hom;G>A	1218;0|47
N	N	-	14	20847202	20847202	A	G	snp	synonymous SNV	T3219C	D1073D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs938887	0.305112	0.2729	0.2419	1	0	0	exonic	exonic	exonic	TEP1	TEP1	ENSG00000129566	synonymous SNV	synonymous SNV	unknown	TEP1:NM_007110:exon36:c.T5190C:p.D1730D,	TEP1:uc010ahk.3:exon24:c.T3219C:p.D1073D,TEP1:uc010tlg.1:exon34:c.T4866C:p.D1622D,TEP1:uc001vxe.3:exon36:c.T5190C:p.D1730D,TEP1:uc010tlh.1:exon7:c.T204C:p.D68D,	UNKNOWN	Het;A>G	1021;68|50	Hom;A>G	3276;0|120
N	N	-	14	20863677	20863677	C	A	snp	synonymous SNV	G1536T	R512R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs2228036	0.196286	0.2632	0.2742	1	0	0	exonic	exonic	exonic	TEP1	TEP1	ENSG00000129566	synonymous SNV	synonymous SNV	unknown	TEP1:NM_007110:exon12:c.G1860T:p.R620R,	TEP1:uc010tlg.1:exon10:c.G1536T:p.R512R,TEP1:uc001vxe.3:exon12:c.G1860T:p.R620R,	UNKNOWN	Het;C>A	736;81|42	Hom;C>A	2817;2|109
N	N	-	14	20869819	20869819	A	T	snp	intronic	 	 	 	 	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs2297612	0.217252	0	0	1	0	0	intronic	intronic	intronic	TEP1	TEP1	ENSG00000129566	Na	Na	Na	Na	Na	Na	Het;A>T	366;8|14	Hom;A>T	462;0|16
N	N	-	14	20997221	20997221	C	T	snp	upstream	 	 	 	 	SETP1																		rs12586536	0.608427	0	0	1	0	0	intergenic	intergenic	upstream	RNASE10(dist=17940),RNASE9(dist=27031)	RNASE10(dist=17907),RNASE9(dist=27031)	ENSG00000258863	Na	Na	Na	Na	Na	Na	Het;C>T	115;4|6	Hom;C>T	335;0|12
N	N	-	14	21511789	21511789	G	A	snp	UTR3	*167G>A	 	 	 	RNASE7		ENSG00000165799	ribonuclease A family member 7	chr14:21510385-21512393	The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein has broad-spectrum antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]			Antimicrobial peptides	GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0050832;defense response to fungus;IDA|GO:0051673;membrane disruption in other organism;IDA|GO:0061844;antimicrobial humoral immune response mediated by antimicrobial peptide;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA	GO:0005576;extracellular region;TAS|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004540;ribonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0042834;peptidoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RNASE7			https://www.ncbi.nlm.nih.gov/omim/?term=612484	http://www.informatics.jax.org/searchtool/Search.do?query=RNASE7&submit=Quick%0D%11625ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNASE7	rs2282036	0.243011	0	0	1	0	0	UTR3	UTR3	UTR3	RNASE7(NM_032572:c.*167G>A)	RNASE7(uc001vzk.4:c.*167G>A)	ENSG00000165799(ENST00000298690:c.*167G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	37;2|2	Hom;G>A	210;0|7
N	N	-	14	21592524	21592525	TA	T	indel	intergenic	 	 	 	 	AL161668.1																		rs34334298	0.550519	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF219(dist=19661),OR5AU1(dist=30571)	ZNF219(dist=19661),OR5AU1(dist=30571)	ENSG00000178107(dist=7662),ENSG00000169327(dist=30501)	Na	Na	Na	Na	Na	Na	Het;-A	486;21|23	Hom;-A	1439;0|52
N	N	-	14	21623489	21623489	C	T	snp	synonymous SNV	G696A	G232G	aliphatic,neutral	aliphatic,neutral	OR5AU1	Olfr221	ENSG00000169327	olfactory receptor family 5 subfamily AU member 1	chr14:21623026-21624222	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR5AU1				http://www.informatics.jax.org/searchtool/Search.do?query=OR5AU1&submit=Quick%0D%12472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5AU1	rs45462402	0.508586	0.3463	0.3160	1	0	0	exonic	exonic	exonic	OR5AU1	OR5AU1	ENSG00000169327	synonymous SNV	synonymous SNV	unknown	OR5AU1:NM_001004731:exon1:c.G696A:p.G232G,	OR5AU1:uc010tlp.2:exon1:c.G696A:p.G232G,	UNKNOWN	Het;C>T	1170;46|51	Hom;C>T	2964;0|108
N	N	-	14	21770730	21770730	A	G	snp	nonsynonymous SNV	A574G	K192E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	RPGRIP1	Rpgrip1	ENSG00000092200	retinitis pigmentosa GTPase regulator interacting protein 1	chr14:21756098-21819460	This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]	Retinal Diseases; recessive cone-rod dystrophy	Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.		GO:0007601;visual perception;IEA|GO:0042462;eye photoreceptor cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0061351;neural precursor cell proliferation;IEA	GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0097730;non-motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1	https://www.uniprot.org/uniprot/Q96KN7	https://hpo.jax.org/app/browse/search?q=RPGRIP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605446	http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1&submit=Quick%0D%2184ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1	rs6571751	0.477236	0.4825	0.5480	0.15	2	13	exonic	exonic	exonic	RPGRIP1	RPGRIP1	ENSG00000092200	nonsynonymous SNV	nonsynonymous SNV	unknown	RPGRIP1:NM_020366:exon4:c.A574G:p.K192E,	RPGRIP1:uc001wag.3:exon4:c.A574G:p.K192E,	UNKNOWN	Het;A>G	455;34|23	Hom;A>G	1253;0|48
N	N	-	14	22239246	22239246	G	A	snp	intronic	 	 	 	 	TRA																		rs12885356	0.266773	0	0	1	0	0	intergenic	intronic	intergenic	OR4E2(dist=105008),DAD1(dist=794561)	TRA	ENSG00000211780(dist=1926),ENSG00000222776(dist=9539)	Na	Na	Na	Na	Na	Na	Het;G>A	396;33|20	Hom;G>A	1253;0|48
N	N	-	14	22480718	22480718	A	T	snp	ncRNA_exonic	 	 	 	 	AC245505.2																		rs2204961	0.423722	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	OR4E2(dist=346480),DAD1(dist=553089)	AV2S1A1,T-CellReceptorV-alpharegion,TCR-alpha,TCRA,TRA,TRAC,TRD	ENSG00000258705	Na	Na	Na	Na	Na	Na	Het;A>T	252;1|11	Hom;A>T	192;0|8
N	N	-	14	22638978	22638978	G	A	snp	intronic	 	 	 	 	AV2S1A1																		rs7161599	0.664337	0	0	1	0	0	intergenic	intronic	intergenic	OR4E2(dist=504740),DAD1(dist=394829)	AV2S1A1,T-CellReceptorV-alpharegion,TCR-alpha,TCRA,TRA,TRA@,TRAC,TRD,hADV29S1	ENSG00000259092(dist=2094),ENSG00000249048(dist=6192)	Na	Na	Na	Na	Na	Na	Het;G>A	126;7|5	Hom;G>A	262;0|7
N	N	-	14	23019647	23019647	C	T	snp	intronic	 	 	 	 	ENSG00000229164																		rs1800388	0.0822684	0.0930	0.0959	1	0	0	intergenic	intronic	intronic	OR4E2(dist=885409),DAD1(dist=14160)	TCRA,TRA@,TRAC	ENSG00000229164	Na	Na	Na	Na	Na	Na	Het;C>T	2642;52|71	Hom;C>T	4824;0|111
N	N	-	14	23019657	23019657	C	G	snp	intronic	 	 	 	 	ENSG00000229164																		rs1263658	0.515775	0.3383	0.4362	1	0	0	intergenic	intronic	intronic	OR4E2(dist=885419),DAD1(dist=14150)	TCRA,TRA@,TRAC	ENSG00000229164	Na	Na	Na	Na	Na	Na	Het;C>G	2573;41|63	Hom;C>G	4691;0|106
N	N	-	14	23245252	23245252	A	G	snp	intronic	 	 	 	 	SLC7A7	Slc7a7	ENSG00000155465	solute carrier family 7 member 7	chr14:23242431-23299029	The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]	Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice exhibit fetal growth retardation and often die neonatally. After heavy protein ingestion, surviving adults show a metabolic derangement akin to lysinuric protein intolerance and including a lasting postnatal growth retardation, splenomegaly, hyperammonemia, and aminoaciduria.	Amino acid transport across the plasma membrane	GO:0000821;regulation of arginine metabolic process;IBA|GO:0003333;amino acid transmembrane transport;IEA|GO:0006461;protein complex assembly;TAS|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;TAS|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;IEA|GO:1990822;basic amino acid transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015174;basic amino acid transmembrane transporter activity;IBA|GO:0015179;L-amino acid transmembrane transporter activity;IBA|GO:0015297;antiporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A7	https://www.uniprot.org/uniprot/Q9UM01	https://hpo.jax.org/app/browse/search?q=SLC7A7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603593	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A7&submit=Quick%0D%9872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A7	rs3829406	0.196486	0	0	1	0	0	intronic	intronic	intronic	SLC7A7	SLC7A7	ENSG00000155465	Na	Na	Na	Na	Na	Na	Het;A>G	471;17|17	Hom;A>G	1367;0|49
N	N	-	14	23299286	23299286	T	C	snp	nonsynonymous SNV	T56C	V19A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MRPL52	Mrpl52	ENSG00000172590	mitochondrial ribosomal protein L52	chr14:23299088-23304246	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Body Mass Index	 	Mitochondrial translation termination	GO:0006412;translation;ISS|GO:0032543;mitochondrial translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003735;structural constituent of ribosome;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MRPL52			https://www.ncbi.nlm.nih.gov/omim/?term=611856	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL52&submit=Quick%0D%13196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL52	rs4982685	0.867612	0.8357	0.8520	0.08	1	13	exonic	exonic	exonic	MRPL52	MRPL52	ENSG00000172590	nonsynonymous SNV	nonsynonymous SNV	unknown	MRPL52:NM_178336:exon2:c.T56C:p.V19A,MRPL52:NM_181307:exon2:c.T56C:p.V19A,MRPL52:NM_180982:exon2:c.T53C:p.V18A,	MRPL52:uc001wgx.4:exon2:c.T53C:p.V18A,MRPL52:uc001whb.4:exon2:c.T56C:p.V19A,MRPL52:uc001wgw.4:exon2:c.T56C:p.V19A,	UNKNOWN	Het;T>C	965;30|34	Hom;T>C	1772;0|65
N	N	-	14	23302585	23302585	T	A	snp	intronic	 	 	 	 	MRPL52	Mrpl52	ENSG00000172590	mitochondrial ribosomal protein L52	chr14:23299088-23304246	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Body Mass Index	 	Mitochondrial translation termination	GO:0006412;translation;ISS|GO:0032543;mitochondrial translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003735;structural constituent of ribosome;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MRPL52			https://www.ncbi.nlm.nih.gov/omim/?term=611856	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL52&submit=Quick%0D%13196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL52	rs12050397	0.867412	0.8355	0.8523	1	0	0	intronic	intronic	intronic	MRPL52	MRPL52	ENSG00000172590	Na	Na	Na	Na	Na	Na	Het;T>A	573;21|26	Hom;T>A	932;0|35
N	N	-	14	23303641	23303641	A	C	snp	UTR3	*111A>C	 	 	 	MRPL52	Mrpl52	ENSG00000172590	mitochondrial ribosomal protein L52	chr14:23299088-23304246	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Body Mass Index	 	Mitochondrial translation termination	GO:0006412;translation;ISS|GO:0032543;mitochondrial translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003735;structural constituent of ribosome;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MRPL52			https://www.ncbi.nlm.nih.gov/omim/?term=611856	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL52&submit=Quick%0D%13196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL52	rs4982686	0.867612	0	0	1	0	0	UTR3	UTR3	UTR3	MRPL52(NM_181306:c.*111A>C,NM_181305:c.*111A>C,NM_181304:c.*111A>C,NM_181307:c.*154A>C,NM_180982:c.*111A>C,NM_178336:c.*111A>C)	MRPL52(uc001wgw.4:c.*111A>C,uc001wgx.4:c.*111A>C,uc001wgy.4:c.*111A>C,uc001wgz.4:c.*111A>C,uc001wha.4:c.*111A>C,uc001whb.4:c.*154A>C)	ENSG00000172590(ENST00000355151:c.*111A>C,ENST00000397496:c.*111A>C,ENST00000555345:c.*111A>C,ENST00000557221:c.*111A>C,ENST00000311892:c.*134A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	270;9|11	Hom;A>C	460;0|14
N	N	-	14	23306048	23306048	C	T	snp	nonsynonymous SNV	C22T	P8S	hydrophobic,neutral	polar,hydrophilic,neutral	MMP14	Mmp14	ENSG00000157227	matrix metallopeptidase 14	chr14:23305766-23318236	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]	Bronchopulmonary Dysplasia; Scleroderma, Systemic|Systemic Scleroderma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; ovarian cancer; chronic obstructive pulmonary disease/COPD; Hepatitis C, Chronic|Liver Cirrhosis; esophageal adenocarcinoma; Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell	Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development.	Activation of Matrix Metalloproteinases	GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001935;endothelial cell proliferation;IEA|GO:0001958;endochondral ossification;IEA|GO:0006508;proteolysis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0008584;male gonad development;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009725;response to hormone;IEA|GO:0010831;positive regulation of myotube differentiation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0016485;protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IEA|GO:0035987;endodermal cell differentiation;IEP|GO:0035988;chondrocyte proliferation;IEA|GO:0043615;astrocyte cell migration;IEA|GO:0043627;response to estrogen;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048771;tissue remodeling;IEA|GO:0048870;cell motility;TAS|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0060348;bone development;IEA|GO:0097094;craniofacial suture morphogenesis;IEA|GO:1905523;positive regulation of macrophage migration;IEA|GO:1990834;response to odorant;IEA	GO:0005615;extracellular space;IMP|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0044354;macropinosome;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005178;integrin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016504;peptidase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMP14		https://hpo.jax.org/app/browse/search?q=MMP14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600754	http://www.informatics.jax.org/searchtool/Search.do?query=MMP14&submit=Quick%0D%10074ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP14	rs1042703	0.867612	0.8345	0.8573	0.08	1	13	exonic	exonic	exonic	MMP14	MMP14	ENSG00000157227	nonsynonymous SNV	nonsynonymous SNV	unknown	MMP14:NM_004995:exon1:c.C22T:p.P8S,	MMP14:uc001whc.3:exon1:c.C22T:p.P8S,	UNKNOWN	Het;C>T	974;38|46	Hom;C>T	2126;0|79
N	N	-	14	23311042	23311043	CT	C	indel	intronic	 	 	 	 	MMP14	Mmp14	ENSG00000157227	matrix metallopeptidase 14	chr14:23305766-23318236	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]	Bronchopulmonary Dysplasia; Scleroderma, Systemic|Systemic Scleroderma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; ovarian cancer; chronic obstructive pulmonary disease/COPD; Hepatitis C, Chronic|Liver Cirrhosis; esophageal adenocarcinoma; Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell	Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development.	Activation of Matrix Metalloproteinases	GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001935;endothelial cell proliferation;IEA|GO:0001958;endochondral ossification;IEA|GO:0006508;proteolysis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0008584;male gonad development;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009725;response to hormone;IEA|GO:0010831;positive regulation of myotube differentiation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0016485;protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IEA|GO:0035987;endodermal cell differentiation;IEP|GO:0035988;chondrocyte proliferation;IEA|GO:0043615;astrocyte cell migration;IEA|GO:0043627;response to estrogen;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048771;tissue remodeling;IEA|GO:0048870;cell motility;TAS|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0060348;bone development;IEA|GO:0097094;craniofacial suture morphogenesis;IEA|GO:1905523;positive regulation of macrophage migration;IEA|GO:1990834;response to odorant;IEA	GO:0005615;extracellular space;IMP|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0044354;macropinosome;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005178;integrin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016504;peptidase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMP14		https://hpo.jax.org/app/browse/search?q=MMP14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600754	http://www.informatics.jax.org/searchtool/Search.do?query=MMP14&submit=Quick%0D%10074ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP14	rs17879412	0.866214	0	0	1	0	0	intronic	intronic	intronic	MMP14	MMP14	ENSG00000157227	Na	Na	Na	Na	Na	Na	Het;-T	563;10|15	Hom;-T	627;0|14
N	N	-	14	23311044	23311044	T	C	snp	intronic	 	 	 	 	MMP14	Mmp14	ENSG00000157227	matrix metallopeptidase 14	chr14:23305766-23318236	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]	Bronchopulmonary Dysplasia; Scleroderma, Systemic|Systemic Scleroderma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; ovarian cancer; chronic obstructive pulmonary disease/COPD; Hepatitis C, Chronic|Liver Cirrhosis; esophageal adenocarcinoma; Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell	Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development.	Activation of Matrix Metalloproteinases	GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001935;endothelial cell proliferation;IEA|GO:0001958;endochondral ossification;IEA|GO:0006508;proteolysis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0008584;male gonad development;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009725;response to hormone;IEA|GO:0010831;positive regulation of myotube differentiation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0016485;protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IEA|GO:0035987;endodermal cell differentiation;IEP|GO:0035988;chondrocyte proliferation;IEA|GO:0043615;astrocyte cell migration;IEA|GO:0043627;response to estrogen;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048771;tissue remodeling;IEA|GO:0048870;cell motility;TAS|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0060348;bone development;IEA|GO:0097094;craniofacial suture morphogenesis;IEA|GO:1905523;positive regulation of macrophage migration;IEA|GO:1990834;response to odorant;IEA	GO:0005615;extracellular space;IMP|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0044354;macropinosome;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005178;integrin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016504;peptidase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMP14		https://hpo.jax.org/app/browse/search?q=MMP14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600754	http://www.informatics.jax.org/searchtool/Search.do?query=MMP14&submit=Quick%0D%10074ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP14	rs57542488	0.866214	0	0	1	0	0	intronic	intronic	intronic	MMP14	MMP14	ENSG00000157227	Na	Na	Na	Na	Na	Na	Het;T>C	572;10|15	Hom;T>C	636;0|15
N	N	-	14	23312718	23312718	C	T	snp	intronic	 	 	 	 	MMP14	Mmp14	ENSG00000157227	matrix metallopeptidase 14	chr14:23305766-23318236	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]	Bronchopulmonary Dysplasia; Scleroderma, Systemic|Systemic Scleroderma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; ovarian cancer; chronic obstructive pulmonary disease/COPD; Hepatitis C, Chronic|Liver Cirrhosis; esophageal adenocarcinoma; Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell	Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development.	Activation of Matrix Metalloproteinases	GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001935;endothelial cell proliferation;IEA|GO:0001958;endochondral ossification;IEA|GO:0006508;proteolysis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0008584;male gonad development;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009725;response to hormone;IEA|GO:0010831;positive regulation of myotube differentiation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0016485;protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IEA|GO:0035987;endodermal cell differentiation;IEP|GO:0035988;chondrocyte proliferation;IEA|GO:0043615;astrocyte cell migration;IEA|GO:0043627;response to estrogen;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048771;tissue remodeling;IEA|GO:0048870;cell motility;TAS|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0060348;bone development;IEA|GO:0097094;craniofacial suture morphogenesis;IEA|GO:1905523;positive regulation of macrophage migration;IEA|GO:1990834;response to odorant;IEA	GO:0005615;extracellular space;IMP|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0044354;macropinosome;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005178;integrin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016504;peptidase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMP14		https://hpo.jax.org/app/browse/search?q=MMP14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600754	http://www.informatics.jax.org/searchtool/Search.do?query=MMP14&submit=Quick%0D%10074ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP14	rs2236303	0.282748	0	0	1	0	0	intronic	intronic	intronic	MMP14	MMP14	ENSG00000157227	Na	Na	Na	Na	Na	Na	Het;C>T	295;5|11	Hom;C>T	301;0|9
N	N	-	14	23312863	23312863	C	G	snp	intronic	 	 	 	 	MMP14	Mmp14	ENSG00000157227	matrix metallopeptidase 14	chr14:23305766-23318236	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]	Bronchopulmonary Dysplasia; Scleroderma, Systemic|Systemic Scleroderma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; ovarian cancer; chronic obstructive pulmonary disease/COPD; Hepatitis C, Chronic|Liver Cirrhosis; esophageal adenocarcinoma; Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell	Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development.	Activation of Matrix Metalloproteinases	GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001935;endothelial cell proliferation;IEA|GO:0001958;endochondral ossification;IEA|GO:0006508;proteolysis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0008584;male gonad development;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009725;response to hormone;IEA|GO:0010831;positive regulation of myotube differentiation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0016485;protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IEA|GO:0035987;endodermal cell differentiation;IEP|GO:0035988;chondrocyte proliferation;IEA|GO:0043615;astrocyte cell migration;IEA|GO:0043627;response to estrogen;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048771;tissue remodeling;IEA|GO:0048870;cell motility;TAS|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0060348;bone development;IEA|GO:0097094;craniofacial suture morphogenesis;IEA|GO:1905523;positive regulation of macrophage migration;IEA|GO:1990834;response to odorant;IEA	GO:0005615;extracellular space;IMP|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0044354;macropinosome;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005178;integrin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016504;peptidase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMP14		https://hpo.jax.org/app/browse/search?q=MMP14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600754	http://www.informatics.jax.org/searchtool/Search.do?query=MMP14&submit=Quick%0D%10074ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP14	rs2236304	0.288938	0	0	1	0	0	intronic	intronic	intronic	MMP14	MMP14	ENSG00000157227	Na	Na	Na	Na	Na	Na	Het;C>G	1310;45|57	Hom;C>G	2928;1|100
N	N	-	14	23313182	23313182	A	G	snp	intronic	 	 	 	 	MMP14	Mmp14	ENSG00000157227	matrix metallopeptidase 14	chr14:23305766-23318236	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]	Bronchopulmonary Dysplasia; Scleroderma, Systemic|Systemic Scleroderma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; ovarian cancer; chronic obstructive pulmonary disease/COPD; Hepatitis C, Chronic|Liver Cirrhosis; esophageal adenocarcinoma; Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell	Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development.	Activation of Matrix Metalloproteinases	GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001935;endothelial cell proliferation;IEA|GO:0001958;endochondral ossification;IEA|GO:0006508;proteolysis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0008584;male gonad development;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009725;response to hormone;IEA|GO:0010831;positive regulation of myotube differentiation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0016485;protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IEA|GO:0035987;endodermal cell differentiation;IEP|GO:0035988;chondrocyte proliferation;IEA|GO:0043615;astrocyte cell migration;IEA|GO:0043627;response to estrogen;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048771;tissue remodeling;IEA|GO:0048870;cell motility;TAS|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0060348;bone development;IEA|GO:0097094;craniofacial suture morphogenesis;IEA|GO:1905523;positive regulation of macrophage migration;IEA|GO:1990834;response to odorant;IEA	GO:0005615;extracellular space;IMP|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0044354;macropinosome;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005178;integrin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016504;peptidase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMP14		https://hpo.jax.org/app/browse/search?q=MMP14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600754	http://www.informatics.jax.org/searchtool/Search.do?query=MMP14&submit=Quick%0D%10074ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP14	rs2236308	0.346046	0	0	1	0	0	intronic	intronic	intronic	MMP14	MMP14	ENSG00000157227	Na	Na	Na	Na	Na	Na	Het;A>G	125;12|6	Hom;A>G	451;1|15
N	N	-	14	23354699	23354699	A	G	snp	intronic	 	 	 	 	REM2	Rem2	ENSG00000139890	RRAD and GEM like GTPase 2	chr14:23352374-23356895			Mice homozygous for a knock-out allele exhibit strain-specific impaired viability and fertility as well as altered intrinsic excitability and spontaneous firing in visual circuits.		GO:0007165;signal transduction;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/REM2	https://www.uniprot.org/uniprot/Q8IYK8		https://www.ncbi.nlm.nih.gov/omim/?term=616955	http://www.informatics.jax.org/searchtool/Search.do?query=REM2&submit=Quick%0D%7950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=REM2	rs12891954	0.929712	0	0	1	0	0	intronic	intronic	intronic	REM2	REM2	ENSG00000139890	Na	Na	Na	Na	Na	Na	Het;A>G	167;1|6	Hom;A>G	350;0|10
N	N	-	14	23374435	23374435	G	A	snp	synonymous SNV	C546T	I182I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RBM23	 	ENSG00000100461	RNA binding motif protein 23	chr14:23369854-23388393	This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0006397;mRNA processing;IEA	GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBM23	https://www.uniprot.org/uniprot/Q86U06			http://www.informatics.jax.org/searchtool/Search.do?query=RBM23&submit=Quick%0D%2531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM23	rs2295680	0.516174	0.4214	0.5803	1	0	0	exonic	exonic	exonic	RBM23	RBM23	ENSG00000100461	synonymous SNV	synonymous SNV	unknown	RBM23:NM_001077351:exon8:c.C594T:p.I198I,RBM23:NM_001077352:exon6:c.C492T:p.I164I,RBM23:NM_018107:exon7:c.C546T:p.I182I,	RBM23:uc001whh.3:exon7:c.C546T:p.I182I,RBM23:uc001whi.3:exon6:c.C492T:p.I164I,RBM23:uc001whk.1:exon8:c.C594T:p.I198I,RBM23:uc010tne.2:exon6:c.C84T:p.I28I,RBM23:uc001whg.3:exon8:c.C594T:p.I198I,	UNKNOWN	Het;G>A	1156;81|57	Hom;G>A	2290;0|81
N	N	-	14	23374862	23374862	C	T	snp	synonymous SNV	G360A	R120R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	RBM23	 	ENSG00000100461	RNA binding motif protein 23	chr14:23369854-23388393	This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0006397;mRNA processing;IEA	GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBM23	https://www.uniprot.org/uniprot/Q86U06			http://www.informatics.jax.org/searchtool/Search.do?query=RBM23&submit=Quick%0D%2531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM23	rs2295682	0.515575	0.4302	0.5805	1	0	0	exonic	exonic	exonic	RBM23	RBM23	ENSG00000100461	synonymous SNV	synonymous SNV	unknown	RBM23:NM_001077351:exon6:c.G408A:p.R136R,RBM23:NM_018107:exon5:c.G360A:p.R120R,	RBM23:uc001whh.3:exon5:c.G360A:p.R120R,RBM23:uc001whk.1:exon6:c.G408A:p.R136R,RBM23:uc001whg.3:exon6:c.G408A:p.R136R,	UNKNOWN	Het;C>T	134;18|8	Hom;C>T	1248;0|47
N	N	-	14	23375809	23375809	A	G	snp	intronic	 	 	 	 	RBM23	 	ENSG00000100461	RNA binding motif protein 23	chr14:23369854-23388393	This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0006397;mRNA processing;IEA	GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBM23	https://www.uniprot.org/uniprot/Q86U06			http://www.informatics.jax.org/searchtool/Search.do?query=RBM23&submit=Quick%0D%2531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM23	rs8016061	0.627995	0	0	1	0	0	intronic	intronic	intronic	RBM23	RBM23	ENSG00000100461	Na	Na	Na	Na	Na	Na	Het;A>G	109;5|6	Hom;A>G	422;0|15
N	N	-	14	23388794	23388796	TAG	T	indel	ncRNA_exonic	 	 	 	 	PRMT5-AS1																		rs10585401	0.629593	0	0	1	0	0	ncRNA_exonic	upstream;downstream	ncRNA_exonic	PRMT5-AS1	RBM23;PRMT5	ENSG00000237054	Na	Na	Na	Na	Na	Na	Het;-AG	1850;82|52	Hom;-AG	5788;0|131
N	N	-	14	23388871	23388871	C	G	snp	ncRNA_exonic	 	 	 	 	PRMT5-AS1																		rs4981449	0.629593	0	0	1	0	0	ncRNA_exonic	upstream;downstream	ncRNA_exonic	PRMT5-AS1	RBM23;PRMT5	ENSG00000237054	Na	Na	Na	Na	Na	Na	Het;C>G	774;66|35	Hom;C>G	3336;0|107
N	N	-	14	23389304	23389304	A	G	snp	ncRNA_exonic	 	 	 	 	PRMT5-AS1																		rs4981450	0.523962	0	0	1	0	0	ncRNA_exonic	upstream;downstream	ncRNA_exonic	PRMT5-AS1	RBM23;PRMT5	ENSG00000237054	Na	Na	Na	Na	Na	Na	Het;A>G	1033;54|47	Hom;A>G	4952;0|134
N	N	-	14	23391533	23391533	C	CACAA	indel	ncRNA_intronic	 	 	 	 	PRMT5-AS1																		rs144411999	0.629992	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	PRMT5-AS1	PRMT5	ENSG00000237054	Na	Na	Na	Na	Na	Na	Het;+ACAA	322;16|9	Hom;+ACAA	1112;0|24
N	N	-	14	23391913	23391913	T	C	snp	ncRNA_intronic	 	 	 	 	PRMT5-AS1																		rs8007089	0.805511	0.7327	0.8011	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	PRMT5-AS1	PRMT5	ENSG00000237054	Na	Na	Na	Na	Na	Na	Het;T>C	398;20|18	Hom;T>C	1322;0|38
N	N	-	14	23394007	23394007	T	C	snp	ncRNA_intronic	 	 	 	 	PRMT5-AS1																		rs1956880	0.629393	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PRMT5	PRMT5	ENSG00000237054	Na	Na	Na	Na	Na	Na	Het;T>C	360;11|17	Hom;T>C	819;1|26
N	N	-	14	23394069	23394069	A	C	snp	ncRNA_intronic	 	 	 	 	PRMT5-AS1																		rs1956881	0.629593	0.5385	0.6320	1	0	0	intronic	intronic	ncRNA_intronic	PRMT5	PRMT5	ENSG00000237054	Na	Na	Na	Na	Na	Na	Het;A>C	653;36|31	Hom;A>C	1521;3|58
N	N	-	14	23396680	23396680	T	C	snp	intronic	 	 	 	 	PRMT5	Prmt5	ENSG00000100462	protein arginine methyltransferase 5	chr14:23389720-23398794	This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]		Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation.	Regulation of TP53 Activity through Methylation	GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006479;protein methylation;IEA|GO:0007088;regulation of mitotic nuclear division;TAS|GO:0008283;cell proliferation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0018216;peptidyl-arginine methylation;IMP|GO:0019918;peptidyl-arginine methylation, to symmetrical-dimethyl arginine;IEA|GO:0032259;methylation;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0035246;peptidyl-arginine N-methylation;IDA|GO:0042118;endothelial cell activation;IMP|GO:0043985;histone H4-R3 methylation;ISS|GO:0044030;regulation of DNA methylation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0048511;rhythmic process;IEA|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IEA|GO:0090161;Golgi ribbon formation;IMP|GO:0097421;liver regeneration;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:1904992;positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway;IGI	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0034709;methylosome;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0043234;protein complex;IEA	GO:0001046;core promoter sequence-specific DNA binding;ISS|GO:0003714;transcription corepressor activity;ISS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008327;methyl-CpG binding;IDA|GO:0008469;histone-arginine N-methyltransferase activity;TAS|GO:0016274;protein-arginine N-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035243;protein-arginine omega-N symmetric methyltransferase activity;EXP|GO:0043021;ribonucleoprotein complex binding;IPI|GO:0044020;histone methyltransferase activity (H4-R3 specific);IMP|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRMT5	https://www.uniprot.org/uniprot/O14744		https://www.ncbi.nlm.nih.gov/omim/?term=604045	http://www.informatics.jax.org/searchtool/Search.do?query=PRMT5&submit=Quick%0D%2532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRMT5	rs12589539	0.523962	0	0	1	0	0	intronic	intronic	intronic	PRMT5	PRMT5	ENSG00000100462	Na	Na	Na	Na	Na	Na	Het;T>C	249;23|12	Hom;T>C	1029;1|34
N	N	-	14	23398902	23398902	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101926933																		rs4982710	0.631989	0	0	1	0	0	ncRNA_exonic	upstream	ncRNA_exonic	LOC101926933	PRMT5,TRNA,TRNA_Arg	ENSG00000257285	Na	Na	Na	Na	Na	Na	Het;C>T	993;71|51	Hom;C>T	3934;0|149
N	N	-	14	23398990	23398990	T	G	snp	upstream;downstream	 	 	 	 	PRMT5	Prmt5	ENSG00000100462	protein arginine methyltransferase 5	chr14:23389720-23398794	This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]		Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation.	Regulation of TP53 Activity through Methylation	GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006479;protein methylation;IEA|GO:0007088;regulation of mitotic nuclear division;TAS|GO:0008283;cell proliferation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0018216;peptidyl-arginine methylation;IMP|GO:0019918;peptidyl-arginine methylation, to symmetrical-dimethyl arginine;IEA|GO:0032259;methylation;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0035246;peptidyl-arginine N-methylation;IDA|GO:0042118;endothelial cell activation;IMP|GO:0043985;histone H4-R3 methylation;ISS|GO:0044030;regulation of DNA methylation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0048511;rhythmic process;IEA|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IEA|GO:0090161;Golgi ribbon formation;IMP|GO:0097421;liver regeneration;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:1904992;positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway;IGI	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0034709;methylosome;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0043234;protein complex;IEA	GO:0001046;core promoter sequence-specific DNA binding;ISS|GO:0003714;transcription corepressor activity;ISS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008327;methyl-CpG binding;IDA|GO:0008469;histone-arginine N-methyltransferase activity;TAS|GO:0016274;protein-arginine N-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035243;protein-arginine omega-N symmetric methyltransferase activity;EXP|GO:0043021;ribonucleoprotein complex binding;IPI|GO:0044020;histone methyltransferase activity (H4-R3 specific);IMP|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRMT5	https://www.uniprot.org/uniprot/O14744		https://www.ncbi.nlm.nih.gov/omim/?term=604045	http://www.informatics.jax.org/searchtool/Search.do?query=PRMT5&submit=Quick%0D%2532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRMT5	rs4982711	0.515974	0	0	1	0	0	ncRNA_intronic	upstream;downstream	ncRNA_intronic	LOC101926933	PRMT5;TRNA,TRNA_Arg	ENSG00000257285	Na	Na	Na	Na	Na	Na	Het;T>G	154;22|9	Hom;T>G	1109;0|33
N	N	-	14	23399096	23399109	GGTTATGCAGCCAT	G	indel	upstream;downstream	 	 	 	 	PRMT5	Prmt5	ENSG00000100462	protein arginine methyltransferase 5	chr14:23389720-23398794	This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]		Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation.	Regulation of TP53 Activity through Methylation	GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006479;protein methylation;IEA|GO:0007088;regulation of mitotic nuclear division;TAS|GO:0008283;cell proliferation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0018216;peptidyl-arginine methylation;IMP|GO:0019918;peptidyl-arginine methylation, to symmetrical-dimethyl arginine;IEA|GO:0032259;methylation;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0035246;peptidyl-arginine N-methylation;IDA|GO:0042118;endothelial cell activation;IMP|GO:0043985;histone H4-R3 methylation;ISS|GO:0044030;regulation of DNA methylation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0048511;rhythmic process;IEA|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IEA|GO:0090161;Golgi ribbon formation;IMP|GO:0097421;liver regeneration;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:1904992;positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway;IGI	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0034709;methylosome;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0043234;protein complex;IEA	GO:0001046;core promoter sequence-specific DNA binding;ISS|GO:0003714;transcription corepressor activity;ISS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008327;methyl-CpG binding;IDA|GO:0008469;histone-arginine N-methyltransferase activity;TAS|GO:0016274;protein-arginine N-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035243;protein-arginine omega-N symmetric methyltransferase activity;EXP|GO:0043021;ribonucleoprotein complex binding;IPI|GO:0044020;histone methyltransferase activity (H4-R3 specific);IMP|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRMT5	https://www.uniprot.org/uniprot/O14744		https://www.ncbi.nlm.nih.gov/omim/?term=604045	http://www.informatics.jax.org/searchtool/Search.do?query=PRMT5&submit=Quick%0D%2532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRMT5	rs17525699	0.631589	0	0	1	0	0	ncRNA_intronic	upstream;downstream	ncRNA_intronic	LOC101926933	PRMT5;TRNA,TRNA_Arg	ENSG00000257285	Na	Na	Na	Na	Na	Na	Het;-GTTATGCAGCCAT	35;4|2	Hom;-GTTATGCAGCCAT	213;0|6
N	N	-	14	23424186	23424186	A	G	snp	ncRNA_intronic	 	 	 	 	AL132780.1																		rs2016392	0.825679	0	0	1	0	0	intronic	intronic	ncRNA_intronic	HAUS4	HAUS4	ENSG00000257285	Na	Na	Na	Na	Na	Na	Het;A>G	163;3|7	Hom;A>G	354;0|11
N	N	-	14	23426182	23426182	C	A	snp	ncRNA_exonic	 	 	 	 	MIR4707																		rs2273626	0.479832	0	0.25	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4707	MIR4707	ENSG00000265037	Na	Na	Na	Na	Na	Na	Het;C>A	865;37|43	Hom;C>A	2139;1|81
N	N	-	14	23479967	23479967	T	C	snp	upstream	 	 	 	 	C14orf93	4931414P19Rik	ENSG00000100802	chromosome 14 open reading frame 93	chr14:23456110-23479375			Mice homozygous for a knock-out allele exhibit mild hypothyrodism in female, but not male, mice.			GO:0005576;extracellular region;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C14orf93	https://www.uniprot.org/uniprot/Q9H972			http://www.informatics.jax.org/searchtool/Search.do?query=C14orf93&submit=Quick%0D%2598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf93	rs61976362	0.449481	0	0	1	0	0	upstream	upstream	upstream	C14orf93	C14orf93	ENSG00000100802	Na	Na	Na	Na	Na	Na	Het;T>C	122;2|5	Hom;T>C	218;0|7
N	N	-	14	23596243	23596243	T	TCA	indel	UTR3	*143A>TGA	 	 	 	SLC7A8	Slc7a8	ENSG00000092068	solute carrier family 7 member 8	chr14:23594504-23652883		hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Cholesterol; Cholesterol, LDL; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; melphalan pharmacokinetics melphalan side effects	Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures.	Amino acid transport across the plasma membrane	GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;TAS|GO:0009636;response to toxic substance;NAS|GO:0015695;organic cation transport;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0050900;leukocyte migration;TAS|GO:0055065;metal ion homeostasis;NAS|GO:1901998;toxin transport;IEA|GO:1902475;L-alpha-amino acid transmembrane transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0015101;organic cation transmembrane transporter activity;IDA|GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0019534;toxin transporter activity;IDA|GO:0042605;peptide antigen binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A8	https://www.uniprot.org/uniprot/Q9UHI5		https://www.ncbi.nlm.nih.gov/omim/?term=604235	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A8&submit=Quick%0D%2177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A8	rs10622298	0.249401	0	0	1	0	0	UTR3	UTR3	UTR3	SLC7A8(NM_182728:c.*143A>TGA,NM_012244:c.*143A>TGA,NM_001267036:c.*143A>TGA,NM_001267037:c.*143A>TGA)	SLC7A8(uc001wiw.3:c.*143A>TGA,uc001wix.4:c.*143A>TGA,uc010tnk.3:c.*143A>TGA,uc010tnl.3:c.*143A>TGA,uc001wiz.4:c.*143A>TGA,uc010akj.4:c.*228A>TGA)	ENSG00000092068(ENST00000316902:c.*143A>TGA,ENST00000339733:c.*635A>TGA,ENST00000469263:c.*228A>TGA,ENST00000453702:c.*143A>TGA,ENST00000529705:c.*143A>TGA,ENST00000422941:c.*143A>TGA,ENST00000528860:c.*838A>TGA)	Na	Na	Na	Na	Na	Na	Het;+CA	1037;70|31	Hom;+CA	4650;3|109
N	N	-	14	23826822	23826822	C	T	snp	synonymous SNV	G1020A	L340L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EFS	Efs	ENSG00000100842	embryonal Fyn-associated substrate	chr14:23825611-23834961	The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]		Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation.		GO:0007155;cell adhesion;IEA|GO:0035556;intracellular signal transduction;TAS	GO:0005737;cytoplasm;TAS	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EFS	https://www.uniprot.org/uniprot/O43281		https://www.ncbi.nlm.nih.gov/omim/?term=609906	http://www.informatics.jax.org/searchtool/Search.do?query=EFS&submit=Quick%0D%2606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFS	rs2231809	0.455272	0.4645	0.3378	1	0	0	exonic	exonic	exonic	EFS	EFS	ENSG00000100842	synonymous SNV	synonymous SNV	unknown	EFS:NM_005864:exon6:c.G1299A:p.L433L,EFS:NM_001277174:exon6:c.G792A:p.L264L,EFS:NM_032459:exon5:c.G1020A:p.L340L,	EFS:uc001wjp.4:exon5:c.G1020A:p.L340L,EFS:uc010tnm.3:exon6:c.G792A:p.L264L,EFS:uc001wjo.4:exon6:c.G1299A:p.L433L,	UNKNOWN	Het;C>T	1434;61|73	Hom;C>T	4479;0|130
N	N	-	14	23830042	23830042	T	C	snp	nonsynonymous SNV	A19G	T7A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	EFS	Efs	ENSG00000100842	embryonal Fyn-associated substrate	chr14:23825611-23834961	The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]		Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation.		GO:0007155;cell adhesion;IEA|GO:0035556;intracellular signal transduction;TAS	GO:0005737;cytoplasm;TAS	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EFS	https://www.uniprot.org/uniprot/O43281		https://www.ncbi.nlm.nih.gov/omim/?term=609906	http://www.informatics.jax.org/searchtool/Search.do?query=EFS&submit=Quick%0D%2606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFS	rs2231798	0.455671	0.4579	0.3372	0.23	3	13	exonic	exonic	exonic	EFS	EFS	ENSG00000100842	nonsynonymous SNV	nonsynonymous SNV	unknown	EFS:NM_005864:exon2:c.A19G:p.T7A,	EFS:uc001wjo.4:exon2:c.A19G:p.T7A,	UNKNOWN	Het;T>C	1170;60|34	Hom;T>C	4669;1|108
N	N	-	14	23830048	23830048	T	G	snp	intronic	 	 	 	 	EFS	Efs	ENSG00000100842	embryonal Fyn-associated substrate	chr14:23825611-23834961	The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]		Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation.		GO:0007155;cell adhesion;IEA|GO:0035556;intracellular signal transduction;TAS	GO:0005737;cytoplasm;TAS	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EFS	https://www.uniprot.org/uniprot/O43281		https://www.ncbi.nlm.nih.gov/omim/?term=609906	http://www.informatics.jax.org/searchtool/Search.do?query=EFS&submit=Quick%0D%2606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFS	rs2231797	0.455671	0.4486	0.3381	1	0	0	intronic	intronic	intronic	EFS	EFS	ENSG00000100842	Na	Na	Na	Na	Na	Na	Het;T>G	1164;58|32	Hom;T>G	4594;1|104
N	N	-	14	23856896	23856896	A	G	snp	intronic	 	 	 	 	MYH6	Myh6	ENSG00000197616	myosin heavy chain 6	chr14:23851199-23877486	Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010]	Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy.	Striated Muscle Contraction	GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA	GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/MYH6		https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160710	http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6	rs178642	0.471645	0.4678	0.4957	1	0	0	intronic	intronic	intronic	MYH6	MYH6	ENSG00000197616	Na	Na	Na	Na	Na	Na	Het;A>G	680;27|31	Hom;A>G	1613;0|57
N	N	-	14	23872666	23872666	T	C	snp	intronic	 	 	 	 	MYH6	Myh6	ENSG00000197616	myosin heavy chain 6	chr14:23851199-23877486	Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010]	Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy.	Striated Muscle Contraction	GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA	GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/MYH6		https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160710	http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6	rs434273	0.784944	0.8281	0.7565	1	0	0	intronic	intronic	intronic	MYH6	MYH6	ENSG00000197616	Na	Na	Na	Na	Na	Na	Het;T>C	655;49|33	Hom;T>C	1537;0|57
N	N	-	14	23940081	23940081	A	G	snp	intronic	 	 	 	 	NGDN	Ngdn	ENSG00000129460	neuroguidin	chr14:23938897-23979071	Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]	Heart Rate	 		GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NGDN	https://www.uniprot.org/uniprot/Q8NEJ9		https://www.ncbi.nlm.nih.gov/omim/?term=610777	http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN	rs1028587	0.70028	0.7608	0.7698	1	0	0	intronic	intronic	intronic	NGDN	NGDN	ENSG00000129460	Na	Na	Na	Na	Na	Na	Het;A>G	1016;2|25	Hom;A>G	1232;0|27
N	N	-	14	23940086	23940086	A	G	snp	intronic	 	 	 	 	NGDN	Ngdn	ENSG00000129460	neuroguidin	chr14:23938897-23979071	Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]	Heart Rate	 		GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NGDN	https://www.uniprot.org/uniprot/Q8NEJ9		https://www.ncbi.nlm.nih.gov/omim/?term=610777	http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN	rs1028588	0.88758	0	0.8994	1	0	0	intronic	intronic	intronic	NGDN	NGDN	ENSG00000129460	Na	Na	Na	Na	Na	Na	Het;A>G	1169;2|27	Hom;A>G	1314;0|29
N	N	-	14	23940089	23940090	AC	A	indel	intronic	 	 	 	 	NGDN	Ngdn	ENSG00000129460	neuroguidin	chr14:23938897-23979071	Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]	Heart Rate	 		GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NGDN	https://www.uniprot.org/uniprot/Q8NEJ9		https://www.ncbi.nlm.nih.gov/omim/?term=610777	http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN	rs3215682	0.70028	0	0.7698	1	0	0	intronic	intronic	intronic	NGDN	NGDN	ENSG00000129460	Na	Na	Na	Na	Na	Na	Het;-C	1181;2|30	Hom;-C	1340;0|31
N	N	-	14	23991105	23991105	G	A	snp	UTR3	*66C>T	 	 	 	ZFHX2	Zfhx2	ENSG00000136367	zinc finger homeobox 2	chr14:23990066-24025401		Body Composition; Body Mass Index	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030534;adult behavior;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFHX2	https://www.uniprot.org/uniprot/Q9C0A1	https://hpo.jax.org/app/browse/search?q=ZFHX2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=ZFHX2&submit=Quick%0D%7334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFHX2	rs223122	0.738219	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	ZFHX2(NM_033400:c.*66C>T)	ZFHX2(uc010akq.3:c.*66C>T,uc010tno.2:c.*66C>T)	ENSG00000157306	Na	Na	Na	Na	Na	Na	Het;G>A	86;2|5	Hom;G>A	275;0|11
N	N	-	14	23999306	23999306	G	A	snp	ncRNA_intronic	 	 	 	 	ZFHX2-AS1																		rs3742488	0.349441	0	0.4812	1	0	0	intronic	intronic	ncRNA_intronic	ZFHX2	THTPA,ZFHX2	ENSG00000157306	Na	Na	Na	Na	Na	Na	Het;G>A	499;21|22	Hom;G>A	807;0|30
N	N	-	14	24682837	24682837	G	A	snp	ncRNA_exonic	 	 	 	 	AL096870.2																		rs2295319	0.135383	0	0	1	0	0	UTR5	UTR5;UTR3	ncRNA_exonic	CHMP4A(NM_014169:c.-63C>T)	CHMP4A(uc001wni.3:c.-63C>T,uc001wnj.4:c.-114C>T),TM9SF1(uc010tob.1:c.-114C>T);MDP1(uc001wnk.2:c.*794C>T,uc001wnl.2:c.*393C>T,uc021rrl.1:c.*558C>T,uc001wnm.2:c.*415C>T),NEDD8-MDP1(uc021rrm.1:c.*393C>T)	ENSG00000260669	Na	Na	Na	Na	Na	Na	Het;G>A	729;34|36	Hom;G>A	1676;0|62
N	N	-	14	24683125	24683125	A	G	snp	ncRNA_exonic	 	 	 	 	AL096870.2																		rs2295318	0.136581	0	0	1	0	0	upstream;downstream	UTR5;UTR3	ncRNA_exonic	CHMP4A;MDP1,NEDD8-MDP1	CHMP4A(uc001wni.3:c.-351T>C,uc001wnj.4:c.-402T>C),TM9SF1(uc010tob.1:c.-402T>C);MDP1(uc001wnk.2:c.*506T>C,uc001wnl.2:c.*105T>C,uc021rrl.1:c.*270T>C,uc001wnm.2:c.*127T>C),NEDD8-MDP1(uc021rrm.1:c.*105T>C)	ENSG00000260669	Na	Na	Na	Na	Na	Na	Het;A>G	200;2|6	Hom;A>G	200;0|7
N	N	-	14	24683266	24683267	CA	C	indel	frameshift substitution	354_355G	 	 	 	MDP1	Mdp1	ENSG00000213920	magnesium dependent phosphatase 1	chr14:24683143-24685276			 		GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MDP1				http://www.informatics.jax.org/searchtool/Search.do?query=MDP1&submit=Quick%0D%18181ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MDP1	rs3215610	0.203674	0.1843	0.1118	1	0	0	exonic	exonic	exonic	MDP1,NEDD8-MDP1	MDP1,NEDD8-MDP1	ENSG00000213920	frameshift substitution	frameshift substitution	unknown	MDP1:NM_001199821:exon5:c.354_355G,NEDD8-MDP1:NM_001199823:exon7:c.545_546G,MDP1:NM_138476:exon6:c.494_495G,	MDP1:uc001wnl.2:exon6:c.494_495G,NEDD8-MDP1:uc021rrm.1:exon7:c.545_546G,MDP1:uc001wnm.2:exon5:c.354_355G,	UNKNOWN	Het;-A	1009;49|38	Hom;-A	2101;0|60
N	N	-	14	24702032	24702032	G	T	snp	UTR5	-428G>T	 	 	 	GMPR2	Gmpr2	ENSG00000100938	guanosine monophosphate reductase 2	chr14:24701628-24708448			 	Purine salvage	GO:0006144;purine nucleobase metabolic process;IEA|GO:0006163;purine nucleotide metabolic process;IEA|GO:0009117;nucleotide metabolic process;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0046037;GMP metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:1902560;GMP reductase complex;IEA	GO:0003824;catalytic activity;IEA|GO:0003920;GMP reductase activity;EXP|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GMPR2	https://www.uniprot.org/uniprot/Q9P2T1		https://www.ncbi.nlm.nih.gov/omim/?term=610781	http://www.informatics.jax.org/searchtool/Search.do?query=GMPR2&submit=Quick%0D%2624ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GMPR2	rs3814815	0.0950479	0	0	1	0	0	UTR5	UTR5	UTR5	GMPR2(NM_001002000:c.-428G>T)	GMPR2(uc001wnq.1:c.-428G>T,uc001wns.3:c.-428G>T,uc001wnv.3:c.-4269G>T)	ENSG00000100938(ENST00000355299:c.-428G>T,ENST00000559287:c.-428G>T,ENST00000558279:c.-728G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	393;38|23	Hom;G>T	1058;0|40
N	N	-	14	24799287	24799287	A	T	snp	intronic	 	 	 	 	ADCY4	Adcy4	ENSG00000129467	adenylate cyclase 4	chr14:24787555-24804299	This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]	Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for disruptions of this gene display a normal phenotype.	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;ISS|GO:0004383;guanylate cyclase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY4	https://www.uniprot.org/uniprot/Q8NFM4		https://www.ncbi.nlm.nih.gov/omim/?term=600292	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY4&submit=Quick%0D%6252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY4	rs1109153	0.265575	0	0	1	0	0	intronic	intronic	intronic	ADCY4	ADCY4	ENSG00000129467	Na	Na	Na	Na	Na	Na	Het;A>T	1273;45|55	Hom;A>T	2884;0|99
N	N	-	14	24799578	24799578	C	G	snp	intronic	 	 	 	 	ADCY4	Adcy4	ENSG00000129467	adenylate cyclase 4	chr14:24787555-24804299	This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]	Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for disruptions of this gene display a normal phenotype.	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;ISS|GO:0004383;guanylate cyclase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY4	https://www.uniprot.org/uniprot/Q8NFM4		https://www.ncbi.nlm.nih.gov/omim/?term=600292	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY4&submit=Quick%0D%6252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY4	rs12436417	0.265375	0	0.2946	1	0	0	intronic	intronic	intronic	ADCY4	ADCY4	ENSG00000129467	Na	Na	Na	Na	Na	Na	Het;C>G	444;15|19	Hom;C>G	1119;0|33
N	N	-	14	24803956	24803956	A	C	snp	UTR5	-98T>G	 	 	 	ADCY4	Adcy4	ENSG00000129467	adenylate cyclase 4	chr14:24787555-24804299	This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]	Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for disruptions of this gene display a normal phenotype.	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;ISS|GO:0004383;guanylate cyclase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY4	https://www.uniprot.org/uniprot/Q8NFM4		https://www.ncbi.nlm.nih.gov/omim/?term=600292	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY4&submit=Quick%0D%6252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY4	rs1124644	0.818291	0	0	1	0	0	UTR5	UTR5	intronic	ADCY4(NM_001198568:c.-98T>G)	ADCY4(uc001wow.3:c.-98T>G,uc010toh.2:c.-4467T>G,uc001woz.4:c.-98T>G)	ENSG00000129467,ENSG00000258973	Na	Na	Na	Na	Na	Na	Het;A>C	68;15|4	Hom;A>C	788;0|24
N	N	-	14	24841517	24841517	A	G	snp	intronic	 	 	 	 	NFATC4	Nfatc4	ENSG00000100968	nuclear factor of activated T-cells 4	chr14:24834879-24848810	This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Alzheimer Disease|Alzheimer's Disease; elite endurance; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006954;inflammatory response;TAS|GO:0007507;heart development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IEA|GO:0034644;cellular response to UV;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045333;cellular respiration;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048167;regulation of synaptic plasticity;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0055001;muscle cell development;IEA|GO:0071285;cellular response to lithium ion;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IGI|GO:1904637;cellular response to ionomycin;IEA|GO:2000297;negative regulation of synapse maturation;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0016607;nuclear speck;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IGI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0042975;peroxisome proliferator activated receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NFATC4	https://www.uniprot.org/uniprot/Q14934		https://www.ncbi.nlm.nih.gov/omim/?term=602699	http://www.informatics.jax.org/searchtool/Search.do?query=NFATC4&submit=Quick%0D%2627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC4	rs10141527	0.842452	0	0	1	0	0	intronic	intronic	intronic	NFATC4	NFATC4	ENSG00000100968	Na	Na	Na	Na	Na	Na	Het;A>G	183;3|6	Hom;A>G	140;0|4
N	N	-	14	24846757	24846757	A	G	snp	UTR3	*608A>G	 	 	 	NFATC4	Nfatc4	ENSG00000100968	nuclear factor of activated T-cells 4	chr14:24834879-24848810	This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Alzheimer Disease|Alzheimer's Disease; elite endurance; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006954;inflammatory response;TAS|GO:0007507;heart development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IEA|GO:0034644;cellular response to UV;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045333;cellular respiration;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048167;regulation of synaptic plasticity;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0055001;muscle cell development;IEA|GO:0071285;cellular response to lithium ion;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IGI|GO:1904637;cellular response to ionomycin;IEA|GO:2000297;negative regulation of synapse maturation;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0016607;nuclear speck;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IGI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0042975;peroxisome proliferator activated receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NFATC4	https://www.uniprot.org/uniprot/Q14934		https://www.ncbi.nlm.nih.gov/omim/?term=602699	http://www.informatics.jax.org/searchtool/Search.do?query=NFATC4&submit=Quick%0D%2627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC4	rs2243891	0.848642	0	0	1	0	0	UTR3	UTR3	UTR3	NFATC4(NM_001136022:c.*608A>G,NM_001288802:c.*608A>G)	NFATC4(uc010tok.2:c.*608A>G,uc010tom.2:c.*608A>G,uc010alt.3:c.*608A>G,uc010alv.3:c.*608A>G,uc010tox.2:c.*608A>G,uc010toz.2:c.*608A>G,uc010tpb.2:c.*608A>G)	ENSG00000100968(ENST00000413692:c.*608A>G,ENST00000424781:c.*608A>G,ENST00000539237:c.*608A>G,ENST00000553708:c.*608A>G,ENST00000422617:c.*608A>G,ENST00000557451:c.*608A>G,ENST00000555167:c.*608A>G,ENST00000555393:c.*608A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	248;4|9	Hom;A>G	766;0|26
N	N	-	14	24942433	24942433	A	G	snp	ncRNA_intronic	 	 	 	 	AK056368																		rs61999094	0.709465	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101927045	AK056368	ENSG00000100445(dist=30369),ENSG00000258744(dist=28367)	Na	Na	Na	Na	Na	Na	Het;A>G	545;19|15	Hom;A>G	1502;0|34
N	N	-	14	24942438	24942438	G	A	snp	ncRNA_intronic	 	 	 	 	AK056368																		rs61999095	0.707069	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101927045	AK056368	ENSG00000100445(dist=30374),ENSG00000258744(dist=28362)	Na	Na	Na	Na	Na	Na	Het;G>A	545;19|15	Hom;G>A	1592;0|36
N	N	-	14	24942456	24942456	T	TG	indel	ncRNA_intronic	 	 	 	 	AK056368																		rs35371884	0.709265	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101927045	AK056368	ENSG00000100445(dist=30392),ENSG00000258744(dist=28344)	Na	Na	Na	Na	Na	Na	Het;+G	394;19|15	Hom;+G	1583;0|36
N	N	-	14	24942549	24942549	C	T	snp	ncRNA_intronic	 	 	 	 	AK056368																		rs34207026	0.709265	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101927045	AK056368	ENSG00000100445(dist=30485),ENSG00000258744(dist=28251)	Na	Na	Na	Na	Na	Na	Het;C>T	239;14|12	Hom;C>T	379;0|15
N	N	-	14	24971008	24971008	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927045																		rs4519248	0.28115	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	LOC101927045	AK056368	ENSG00000258744	Na	Na	Na	Na	Na	Na	Het;C>T	1310;87|65	Hom;C>T	3274;0|122
N	N	-	14	24971151	24971151	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927045																		rs1956927	0.28095	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	LOC101927045	AK056368	ENSG00000258744	Na	Na	Na	Na	Na	Na	Het;T>C	1740;88|75	Hom;T>C	3976;0|140
N	N	-	14	24975509	24975509	T	C	snp	intronic	 	 	 	 	CMA1	Cma1	ENSG00000092009	chymase 1	chr14:24974559-24977471	This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]	Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; HDL cholesterol; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; diabetes, type 2; ARDS mortality; asthma; Cardiomyopathy, Hypertrophic, Familial; cardiovascular; Hyperparathyroidism, Secondary; left ventricular hypertrophy; Connective Tissue Diseases|Hypertension, Pulmonary; atherosclerosis; sarcoidosis; hypertension; retinopathy, diabetic; dermatitis and eczema; IgE levels; Chronic renal failure|Kidney Failure, Chronic; Atopic dermatitis; Kidney Diseases; Asthma; Cardiomyopathy, Hypertrophic; hypertension, pregnancy induced; nephropathy, diabetic; Cardiomyopathies|Heart Defects, Congenital; hypertension; left ventricular hypertrophy; asthma; dermatitis and eczema; atopic dermatitis; Dermatitis, Atopic; glaucoma; glaucoma, primary open-angle; atherosclerosis, coronary; peptic ulcer stomach cancer; Total IgE; longevity	Mice homozygous for a knock-out allele display a reduction in mast cell-mediated ischemia reperfusion injury of skeletal muscle.	Metabolism of Angiotensinogen to Angiotensins	GO:0002003;angiotensin maturation;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IEA|GO:0016485;protein processing;IBA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030901;midbrain development;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050720;interleukin-1 beta biosynthetic process;IDA|GO:0050727;regulation of inflammatory response;IC|GO:0071333;cellular response to glucose stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005623;cell;IEA|GO:0031012;extracellular matrix;IDA	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CMA1	https://www.uniprot.org/uniprot/P23946		https://www.ncbi.nlm.nih.gov/omim/?term=118938	http://www.informatics.jax.org/searchtool/Search.do?query=CMA1&submit=Quick%0D%2170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CMA1	rs1885108	0.623203	0.6766	0.7322	1	0	0	intronic	intronic	intronic	CMA1	CMA1	ENSG00000092009,ENSG00000258744	Na	Na	Na	Na	Na	Na	Het;T>C	195;19|9	Hom;T>C	579;0|19
N	N	-	14	25044089	25044089	C	T	snp	intronic	 	 	 	 	CTSG	Ctsg	ENSG00000100448	cathepsin G	chr14:25042728-25045466	The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]	Alzheimer's Disease; Kidney Failure, Chronic; sepsis; HIV; cardiovascular disease; cerebrovascular disease; longevity; metabolic syndrome; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection induced mortality but increased susceptibility to mortality induced by fungal infection. Mice either homozygous or heterozygous for a knock-in allele develop an abrupt onset, rapidly fatal acute leukemia.	Antimicrobial peptides	GO:0002003;angiotensin maturation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0006508;proteolysis;IDA|GO:0006955;immune response;TAS|GO:0016485;protein processing;IBA|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0050778;positive regulation of immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0050832;defense response to fungus;IEA|GO:0070946;neutrophil mediated killing of gram-positive bacterium;IEA|GO:0071222;cellular response to lipopolysaccharide;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0010494;cytoplasmic stress granule;IDA|GO:0030141;secretory granule;IDA|GO:0031012;extracellular matrix;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IDA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSG	https://www.uniprot.org/uniprot/P08311		https://www.ncbi.nlm.nih.gov/omim/?term=116830	http://www.informatics.jax.org/searchtool/Search.do?query=CTSG&submit=Quick%0D%2528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSG	rs2070697	0.275958	0	0	1	0	0	intronic	intronic	intronic	CTSG	CTSG	ENSG00000100448	Na	Na	Na	Na	Na	Na	Het;C>T	43;12|4	Hom;C>T	404;0|14
N	N	-	14	25100247	25100247	T	C	snp	UTR3	*30A>G	 	 	 	GZMB		ENSG00000100453	granzyme B	chr14:25100160-25103473	This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Arthritis, Juvenile Rheumatoid|Lymphohistiocytosis, Hemophagocytic; null; Fibrinogen; heart transplant; Urinalysis; Behcet Syndrome; Alzheimer Disease; longevity; Autoimmune Diseases|melanoma|Vitiligo; breast cancer ; drug-related genes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Vitiligo; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained.	Activation, myristolyation of BID and translocation to mitochondria	GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0016485;protein processing;IBA|GO:0019835;cytolysis;IEA|GO:0042267;natural killer cell mediated cytotoxicity;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS	GO:0001772;immunological synapse;TAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GZMB	https://www.uniprot.org/uniprot/P10144		https://www.ncbi.nlm.nih.gov/omim/?term=123910	http://www.informatics.jax.org/searchtool/Search.do?query=GZMB&submit=Quick%0D%2530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMB	rs2236337	0.288538	0.2584	0.2437	1	0	0	UTR3	UTR3	ncRNA_intronic	GZMB(NM_004131:c.*30A>G)	GZMB(uc001wps.2:c.*30A>G,uc010ama.2:c.*30A>G)	ENSG00000258657	Na	Na	Na	Na	Na	Na	Het;T>C	1243;62|58	Hom;T>C	2484;0|90
N	N	-	14	25100282	25100282	A	G	snp	nonsynonymous SNV	T739C	Y247H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	GZMB		ENSG00000100453	granzyme B	chr14:25100160-25103473	This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Arthritis, Juvenile Rheumatoid|Lymphohistiocytosis, Hemophagocytic; null; Fibrinogen; heart transplant; Urinalysis; Behcet Syndrome; Alzheimer Disease; longevity; Autoimmune Diseases|melanoma|Vitiligo; breast cancer ; drug-related genes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Vitiligo; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained.	Activation, myristolyation of BID and translocation to mitochondria	GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0016485;protein processing;IBA|GO:0019835;cytolysis;IEA|GO:0042267;natural killer cell mediated cytotoxicity;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS	GO:0001772;immunological synapse;TAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GZMB	https://www.uniprot.org/uniprot/P10144		https://www.ncbi.nlm.nih.gov/omim/?term=123910	http://www.informatics.jax.org/searchtool/Search.do?query=GZMB&submit=Quick%0D%2530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMB	rs2236338	0.291933	0.2653	0.2460	0.15	2	13	exonic	exonic	exonic	GZMB	GZMB	ENSG00000100453	nonsynonymous SNV	nonsynonymous SNV	unknown	GZMB:NM_004131:exon5:c.T739C:p.Y247H,	GZMB:uc010ama.2:exon5:c.T703C:p.Y235H,GZMB:uc001wps.2:exon5:c.T739C:p.Y247H,	UNKNOWN	Het;A>G	1256;76|58	Hom;A>G	3025;0|106
N	N	-	14	25101414	25101414	C	T	snp	ncRNA_intronic	 	 	 	 	AL136018.1																		rs117556181	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GZMB	GZMB	ENSG00000258657	Na	Na	Na	Na	Na	Na	Het;C>T	133;42|7	Hom;C>T	509;0|11
N	N	-	14	25101416	25101416	G	A	snp	ncRNA_intronic	 	 	 	 	AL136018.1																		rs117058812	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GZMB	GZMB	ENSG00000258657	Na	Na	Na	Na	Na	Na	Het;G>A	118;41|7	Hom;G>A	467;0|9
N	N	-	14	25101589	25101589	G	C	snp	nonsynonymous SNV	C280G	P94A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	GZMB		ENSG00000100453	granzyme B	chr14:25100160-25103473	This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Arthritis, Juvenile Rheumatoid|Lymphohistiocytosis, Hemophagocytic; null; Fibrinogen; heart transplant; Urinalysis; Behcet Syndrome; Alzheimer Disease; longevity; Autoimmune Diseases|melanoma|Vitiligo; breast cancer ; drug-related genes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Vitiligo; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained.	Activation, myristolyation of BID and translocation to mitochondria	GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0016485;protein processing;IBA|GO:0019835;cytolysis;IEA|GO:0042267;natural killer cell mediated cytotoxicity;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS	GO:0001772;immunological synapse;TAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GZMB	https://www.uniprot.org/uniprot/P10144		https://www.ncbi.nlm.nih.gov/omim/?term=123910	http://www.informatics.jax.org/searchtool/Search.do?query=GZMB&submit=Quick%0D%2530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMB	rs11539752	0.301917	0	0.2438	0.15	2	13	exonic	exonic	exonic	GZMB	GZMB	ENSG00000100453	nonsynonymous SNV	nonsynonymous SNV	unknown	GZMB:NM_004131:exon3:c.C280G:p.P94A,	GZMB:uc010ama.2:exon3:c.C244G:p.P82A,GZMB:uc001wps.2:exon3:c.C280G:p.P94A,	UNKNOWN	Het;G>C	298;85|22	Hom;G>C	1638;0|56
N	N	-	14	25101629	25101629	T	C	snp	synonymous SNV	A204G	K68K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	GZMB		ENSG00000100453	granzyme B	chr14:25100160-25103473	This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Arthritis, Juvenile Rheumatoid|Lymphohistiocytosis, Hemophagocytic; null; Fibrinogen; heart transplant; Urinalysis; Behcet Syndrome; Alzheimer Disease; longevity; Autoimmune Diseases|melanoma|Vitiligo; breast cancer ; drug-related genes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Vitiligo; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained.	Activation, myristolyation of BID and translocation to mitochondria	GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0016485;protein processing;IBA|GO:0019835;cytolysis;IEA|GO:0042267;natural killer cell mediated cytotoxicity;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS	GO:0001772;immunological synapse;TAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GZMB	https://www.uniprot.org/uniprot/P10144		https://www.ncbi.nlm.nih.gov/omim/?term=123910	http://www.informatics.jax.org/searchtool/Search.do?query=GZMB&submit=Quick%0D%2530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMB	rs10909625	0.302516	0	0.2371	1	0	0	exonic	exonic	exonic	GZMB	GZMB	ENSG00000100453	synonymous SNV	synonymous SNV	unknown	GZMB:NM_004131:exon3:c.A240G:p.K80K,	GZMB:uc010ama.2:exon3:c.A204G:p.K68K,GZMB:uc001wps.2:exon3:c.A240G:p.K80K,	UNKNOWN	Het;T>C	576;66|33	Hom;T>C	1797;0|62
N	N	-	14	25103414	25103414	G	A	snp	unknown	 	 	 	 	GZMB		ENSG00000100453	granzyme B	chr14:25100160-25103473	This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Arthritis, Juvenile Rheumatoid|Lymphohistiocytosis, Hemophagocytic; null; Fibrinogen; heart transplant; Urinalysis; Behcet Syndrome; Alzheimer Disease; longevity; Autoimmune Diseases|melanoma|Vitiligo; breast cancer ; drug-related genes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Vitiligo; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained.	Activation, myristolyation of BID and translocation to mitochondria	GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0016485;protein processing;IBA|GO:0019835;cytolysis;IEA|GO:0042267;natural killer cell mediated cytotoxicity;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS	GO:0001772;immunological synapse;TAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GZMB	https://www.uniprot.org/uniprot/P10144		https://www.ncbi.nlm.nih.gov/omim/?term=123910	http://www.informatics.jax.org/searchtool/Search.do?query=GZMB&submit=Quick%0D%2530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMB	rs2273844	0.295927	0.2654	0.3106	1	0	0	UTR5	UTR5	exonic	GZMB(NM_004131:c.-48C>T)	GZMB(uc001wps.2:c.-48C>T,uc010ama.2:c.-97C>T)	ENSG00000100453	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	939;44|46	Hom;G>A	2773;0|82
N	N	-	14	26043929	26043929	T	C	snp	intergenic	 	 	 	 	AL079352.1																		rs11159403	0.204872	0	0	1	0	0	intergenic	intergenic	intergenic	STXBP6(dist=524426),NOVA1(dist=871160)	STXBP6(dist=524758),Mir_548(dist=597444)	ENSG00000257976(dist=142489),ENSG00000212270(dist=231925)	Na	Na	Na	Na	Na	Na	Het;T>C	265;5|8	Hom;T>C	384;0|11
N	N	-	14	27278025	27278025	T	G	snp	ncRNA_intronic	 	 	 	 	LOC101927062																		rs7158297	0.446685	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927062	NOVA1(dist=211065),MIR4307(dist=99823)	ENSG00000257845	Na	Na	Na	Na	Na	Na	Het;T>G	640;38|32	Hom;T>G	2226;0|87
N	N	-	14	29261307	29261307	A	AC	indel	frameshift substitution	344_344delinsAC	 	 	 	C14orf23	 																	rs56363493	0	0	0.2214	1	0	0	ncRNA_exonic	exonic	exonic	LINC01551	C14orf23	ENSG00000186960	Na	frameshift substitution	unknown	Na	C14orf23:uc001wqf.3:exon3:c.344_344delinsAC,	UNKNOWN	Het;+C	1019;39|43	Hom;+C	4302;1|102
N	N	-	14	30066929	30066929	A	G	snp	synonymous SNV	T2202C	I734I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PRKD1	Prkd1	ENSG00000184304	protein kinase D1	chr14:30045687-30661104	PRKD1 is a serine/threonine kinase that regulates a variety of cellular functions, including membrane receptor signaling, transport at the Golgi, protection from oxidative stress at the mitochondria, gene transcription, and regulation of cell shape, motility, and adhesion (summary by Eiseler et al., 2009 [PubMed 19329994]).[supplied by OMIM, Nov 2010]	Narcolepsy; Body Mass Index; Cell Adhesion Molecules; Potassium; Blood Pressure	Mice homozygous for a knock-out allele exhibit partial embryonic lethality. Mice homozygous for a knock-in allele display partial embryonic and perinatal lethality.	Sphingolipid de novo biosynthesis	GO:0001525;angiogenesis;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IGI|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0007030;Golgi organization;IMP|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007265;Ras protein signal transduction;IMP|GO:0007399;nervous system development;IEA|GO:0008283;cell proliferation;TAS|GO:0010508;positive regulation of autophagy;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010837;regulation of keratinocyte proliferation;ISS|GO:0010976;positive regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030154;cell differentiation;IEA|GO:0031647;regulation of protein stability;IMP|GO:0032793;positive regulation of CREB transcription factor activity;IGI|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IGI|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0035556;intracellular signal transduction;IMP|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IMP|GO:0038033;positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway;IGI|GO:0042993;positive regulation of transcription factor import into nucleus;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IGI|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IC|GO:0045087;innate immune response;IEA|GO:0045669;positive regulation of osteoblast differentiation;ISS|GO:0045766;positive regulation of angiogenesis;IGI|GO:0045806;negative regulation of endocytosis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IMP|GO:0048193;Golgi vesicle transport;ISS|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IEA|GO:0060548;negative regulation of cell death;IMP|GO:0071447;cellular response to hydroperoxide;IMP|GO:0089700;protein kinase D signaling;IGI|GO:1901727;positive regulation of histone deacetylase activity;IGI|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP|GO:2001044;regulation of integrin-mediated signaling pathway;TAS	GO:0000421;autophagosome membrane;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004697;protein kinase C activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRKD1		https://hpo.jax.org/app/browse/search?q=PRKD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605435	http://www.informatics.jax.org/searchtool/Search.do?query=PRKD1&submit=Quick%0D%15177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKD1	rs2230505	0.511781	0.5095	0.4350	1	0	0	exonic	exonic	exonic	PRKD1	PRKD1	ENSG00000184304	synonymous SNV	synonymous SNV	unknown	PRKD1:NM_002742:exon16:c.T2202C:p.I734I,	PRKD1:uc001wqh.3:exon16:c.T2202C:p.I734I,	UNKNOWN	Het;A>G	1213;69|57	Hom;A>G	2382;2|86
N	N	-	14	30066976	30066976	A	T	snp	ncRNA_intronic	 	 	 	 	MIR548AI																		rs3783299	0.430711	0.4305	0.4170	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548AI	MIR548AI	ENSG00000184304	Na	Na	Na	Na	Na	Na	Het;A>T	606;33|27	Hom;A>T	1299;2|45
N	N	-	14	30068194	30068194	T	G	snp	ncRNA_intronic	 	 	 	 	MIR548AI																		rs2273813	0.506789	0.5044	0.4323	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548AI	MIR548AI	ENSG00000184304	Na	Na	Na	Na	Na	Na	Het;T>G	402;29|20	Hom;T>G	1059;0|35
N	N	-	14	30125660	30125660	A	G	snp	ncRNA_intronic	 	 	 	 	MIR548AI																		rs6571317	0.526158	0	0.4764	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	MIR548AI	MIR548AI	ENSG00000257120	Na	Na	Na	Na	Na	Na	Het;A>G	612;47|36	Hom;A>G	1746;0|67
N	N	-	14	30164971	30164971	C	T	snp	ncRNA_intronic	 	 	 	 	MIR548AI																		rs10150918	0.525759	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548AI	MIR548AI	ENSG00000184304	Na	Na	Na	Na	Na	Na	Het;C>T	209;5|10	Hom;C>T	347;0|13
N	N	-	14	30165202	30165202	A	G	snp	ncRNA_intronic	 	 	 	 	MIR548AI																		rs10151056	0.533147	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548AI	MIR548AI	ENSG00000184304	Na	Na	Na	Na	Na	Na	Het;A>G	77;5|5	Hom;A>G	427;0|14
N	N	-	14	31355096	31355096	C	G	snp	nonsynonymous SNV	C1055G	T352S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	COCH	Coch	ENSG00000100473	cochlin	chr14:31343720-31364271	The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]	DEAFNESS AUTOSOMAL DOMINANT 9	Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age.  Homozyogtes for a null allele have no abnormal phenotype.		GO:0007605;sensory perception of sound;TAS|GO:0008360;regulation of cell shape;IMP|GO:0042742;defense response to bacterium;IEA|GO:0045089;positive regulation of innate immune response;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COCH	https://www.uniprot.org/uniprot/O43405	https://hpo.jax.org/app/browse/search?q=COCH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603196	http://www.informatics.jax.org/searchtool/Search.do?query=COCH&submit=Quick%0D%2533ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COCH	rs1045644	0.411342	0.5120	0.5491	0.23	3	13	exonic	exonic	exonic	COCH	COCH	ENSG00000100473	nonsynonymous SNV	nonsynonymous SNV	unknown	COCH:NM_004086:exon11:c.C1055G:p.T352S,COCH:NM_001135058:exon10:c.C1055G:p.T352S,	COCH:uc001wqt.1:exon6:c.C608G:p.T203S,COCH:uc001wqp.2:exon10:c.C1055G:p.T352S,COCH:uc001wqq.4:exon10:c.C1055G:p.T352S,COCH:uc001wqr.2:exon11:c.C1055G:p.T352S,	UNKNOWN	Het;C>G	1543;108|71	Hom;C>G	4210;3|143
N	N	-	14	31538939	31538939	A	G	snp	intronic	 	 	 	 	AP4S1	Ap4s1	ENSG00000100478	adaptor related protein complex 4 sigma 1 subunit	chr14:31494312-31562818	This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]	Cerebral palsy spastic quadriplegic type 6	 	Lysosome Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS	GO:0005215;transporter activity;TAS|GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AP4S1	https://www.uniprot.org/uniprot/Q9Y587	https://hpo.jax.org/app/browse/search?q=AP4S1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607243	http://www.informatics.jax.org/searchtool/Search.do?query=AP4S1&submit=Quick%0D%2534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4S1	rs7150619	0.416933	0	0	1	0	0	intronic	intronic	intronic	AP4S1	AP4S1	ENSG00000100478	Na	Na	Na	Na	Na	Na	Het;A>G	108;7|4	Hom;A>G	388;0|10
N	N	-	14	31538984	31538984	C	G	snp	intronic	 	 	 	 	AP4S1	Ap4s1	ENSG00000100478	adaptor related protein complex 4 sigma 1 subunit	chr14:31494312-31562818	This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]	Cerebral palsy spastic quadriplegic type 6	 	Lysosome Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS	GO:0005215;transporter activity;TAS|GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AP4S1	https://www.uniprot.org/uniprot/Q9Y587	https://hpo.jax.org/app/browse/search?q=AP4S1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607243	http://www.informatics.jax.org/searchtool/Search.do?query=AP4S1&submit=Quick%0D%2534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4S1	rs7155228	0.727037	0	0	1	0	0	intronic	intronic	intronic	AP4S1	AP4S1	ENSG00000100478	Na	Na	Na	Na	Na	Na	Het;C>G	379;19|12	Hom;C>G	802;0|22
N	N	-	14	33784712	33784713	CG	C	indel	intronic	 	 	 	 	NPAS3	Npas3	ENSG00000151322	neuronal PAS domain protein 3	chr14:33404139-34273382	This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	iloperidone; Tobacco Use Disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology.  Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0032502;developmental process;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NPAS3	https://www.uniprot.org/uniprot/Q8IXF0		https://www.ncbi.nlm.nih.gov/omim/?term=609430	http://www.informatics.jax.org/searchtool/Search.do?query=NPAS3&submit=Quick%0D%9402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAS3	rs36035161	0.418131	0	0	1	0	0	intronic	intronic	intronic	NPAS3	NPAS3	ENSG00000151322	Na	Na	Na	Na	Na	Na	Het;-G	216;26|12	Hom;-G	452;0|16
N	N	-	14	33784800	33784800	T	G	snp	intronic	 	 	 	 	NPAS3	Npas3	ENSG00000151322	neuronal PAS domain protein 3	chr14:33404139-34273382	This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	iloperidone; Tobacco Use Disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology.  Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0032502;developmental process;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NPAS3	https://www.uniprot.org/uniprot/Q8IXF0		https://www.ncbi.nlm.nih.gov/omim/?term=609430	http://www.informatics.jax.org/searchtool/Search.do?query=NPAS3&submit=Quick%0D%9402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAS3	rs35677476	0.100439	0	0	1	0	0	intronic	intronic	intronic	NPAS3	NPAS3	ENSG00000151322	Na	Na	Na	Na	Na	Na	Het;T>G	968;87|53	Hom;T>G	3312;2|121
N	N	-	14	34769791	34769791	T	C	snp	intergenic	 	 	 	 	NONE																		rs12436611	0.300919	0	0	1	0	0	intergenic	intergenic	intergenic	EGLN3(dist=349507),SPTSSA(dist=132353)	EGLN3(dist=349507),SPTSSA(dist=132353)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	285;6|10	Hom;T>C	473;0|17
N	N	-	14	34955276	34955276	A	C	snp	ncRNA_exonic	 	 	 	 	RPL23AP71																		rs4981242	0.575879	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SPTSSA(dist=23808),EAPP(dist=29859)	SPTSSA(dist=23808),EAPP(dist=29859)	ENSG00000237450	Na	Na	Na	Na	Na	Na	Het;A>C	131;6|6	Hom;A>C	192;0|7
N	N	-	14	34955341	34955341	G	A	snp	ncRNA_exonic	 	 	 	 	RPL23AP71																		rs7161680	0.584465	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SPTSSA(dist=23873),EAPP(dist=29794)	SPTSSA(dist=23873),EAPP(dist=29794)	ENSG00000237450	Na	Na	Na	Na	Na	Na	Het;G>A	158;8|5	Hom;G>A	132;0|4
N	N	-	14	34955352	34955352	A	G	snp	ncRNA_exonic	 	 	 	 	RPL23AP71																		rs4246987	0.584465	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SPTSSA(dist=23884),EAPP(dist=29783)	SPTSSA(dist=23884),EAPP(dist=29783)	ENSG00000237450	Na	Na	Na	Na	Na	Na	Het;A>G	164;6|5	Hom;A>G	111;0|4
N	N	-	14	34958589	34958589	G	A	snp	intergenic	 	 	 	 	RPL23AP71																		rs4290395	0.575479	0	0	1	0	0	intergenic	intergenic	intergenic	SPTSSA(dist=27121),EAPP(dist=26546)	SPTSSA(dist=27121),EAPP(dist=26546)	ENSG00000237450(dist=2936),ENSG00000129518(dist=26546)	Na	Na	Na	Na	Na	Na	Het;G>A	124;11|7	Hom;G>A	376;0|15
N	N	-	14	34985645	34985645	G	A	snp	synonymous SNV	C729T	A243A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EAPP	Eapp	ENSG00000129518	E2F associated phosphoprotein	chr14:34985135-35008916	This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]		 		GO:0008284;positive regulation of cell proliferation;IDA|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IDA|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/EAPP	https://www.uniprot.org/uniprot/Q56P03		https://www.ncbi.nlm.nih.gov/omim/?term=609486	http://www.informatics.jax.org/searchtool/Search.do?query=EAPP&submit=Quick%0D%6261ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EAPP	rs7797	0.276957	0.3583	0.3085	1	0	0	exonic	exonic	exonic	EAPP	EAPP	ENSG00000129518	synonymous SNV	synonymous SNV	unknown	EAPP:NM_018453:exon6:c.C729T:p.A243A,	EAPP:uc001wsd.1:exon6:c.C729T:p.A243A,	UNKNOWN	Het;G>A	2186;83|102	Hom;G>A	4591;0|170
N	N	-	14	34998705	34998705	T	C	snp	intronic	 	 	 	 	EAPP	Eapp	ENSG00000129518	E2F associated phosphoprotein	chr14:34985135-35008916	This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]		 		GO:0008284;positive regulation of cell proliferation;IDA|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IDA|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/EAPP	https://www.uniprot.org/uniprot/Q56P03		https://www.ncbi.nlm.nih.gov/omim/?term=609486	http://www.informatics.jax.org/searchtool/Search.do?query=EAPP&submit=Quick%0D%6261ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EAPP	rs12147949	0.286941	0.3789	0.3265	1	0	0	intronic	intronic	intronic	EAPP	EAPP	ENSG00000129518	Na	Na	Na	Na	Na	Na	Het;T>C	830;48|36	Hom;T>C	1899;0|69
N	N	-	14	35037008	35037008	T	C	snp	intronic	 	 	 	 	SNX6	Snx6	ENSG00000129515	sorting nexin 6	chr14:35030300-35099389	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]		Mice homozygous for a conditional allele activated in neurons exhibit impaired spatial learning and memory, decreased dendritic spine density in CA1 neurons, and reduced AMPA-mediated eEPSCs.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0006897;endocytosis;IBA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;NAS|GO:0015031;protein transport;IEA|GO:0016050;vesicle organization;IBA|GO:0016241;regulation of macroautophagy;NAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042147;retrograde transport, endosome to Golgi;NAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005622;intracellular;NAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0030904;retromer complex;IDA|GO:0030905;retromer, tubulation complex;NAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IDA|GO:0097422;tubular endosome;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0034452;dynactin binding;IDA|GO:0034713;type I transforming growth factor beta receptor binding;IEA|GO:0035091;phosphatidylinositol binding;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SNX6	https://www.uniprot.org/uniprot/Q9UNH7		https://www.ncbi.nlm.nih.gov/omim/?term=606098	http://www.informatics.jax.org/searchtool/Search.do?query=SNX6&submit=Quick%0D%6260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX6	rs11156848	0.22484	0.3240	0.3200	1	0	0	intronic	intronic	intronic	SNX6	SNX6	ENSG00000129515	Na	Na	Na	Na	Na	Na	Het;T>C	1103;28|45	Hom;T>C	2759;0|88
N	N	-	14	35223971	35223971	A	G	snp	intronic	 	 	 	 	BAZ1A	Baz1a	ENSG00000198604	bromodomain adjacent to zinc finger domain 1A	chr14:35221937-35344853	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis.		GO:0006261;DNA-dependent DNA replication;IDA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0008623;CHRAC;IDA|GO:0016590;ACF complex;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ1A			https://www.ncbi.nlm.nih.gov/omim/?term=605680	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ1A&submit=Quick%0D%16940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ1A	rs8009900	0.252596	0	0	1	0	0	intronic	intronic	intronic	BAZ1A	BAZ1A	ENSG00000198604	Na	Na	Na	Na	Na	Na	Het;A>G	382;9|13	Hom;A>G	468;0|13
N	N	-	14	35224294	35224294	C	T	snp	intronic	 	 	 	 	BAZ1A	Baz1a	ENSG00000198604	bromodomain adjacent to zinc finger domain 1A	chr14:35221937-35344853	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis.		GO:0006261;DNA-dependent DNA replication;IDA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0008623;CHRAC;IDA|GO:0016590;ACF complex;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ1A			https://www.ncbi.nlm.nih.gov/omim/?term=605680	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ1A&submit=Quick%0D%16940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ1A	rs8010579	0.350639	0	0	1	0	0	intronic	intronic	intronic	BAZ1A	BAZ1A	ENSG00000198604	Na	Na	Na	Na	Na	Na	Het;C>T	87;3|4	Hom;C>T	273;0|9
N	N	-	14	35227880	35227880	G	T	snp	intronic	 	 	 	 	BAZ1A	Baz1a	ENSG00000198604	bromodomain adjacent to zinc finger domain 1A	chr14:35221937-35344853	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis.		GO:0006261;DNA-dependent DNA replication;IDA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0008623;CHRAC;IDA|GO:0016590;ACF complex;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ1A			https://www.ncbi.nlm.nih.gov/omim/?term=605680	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ1A&submit=Quick%0D%16940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ1A	rs61981201	0.280551	0.3305	0.3342	1	0	0	intronic	intronic	intronic	BAZ1A	BAZ1A	ENSG00000198604	Na	Na	Na	Na	Na	Na	Het;G>T	423;17|18	Hom;G>T	759;0|29
N	N	-	14	35230906	35230906	G	A	snp	intronic	 	 	 	 	BAZ1A	Baz1a	ENSG00000198604	bromodomain adjacent to zinc finger domain 1A	chr14:35221937-35344853	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis.		GO:0006261;DNA-dependent DNA replication;IDA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0008623;CHRAC;IDA|GO:0016590;ACF complex;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ1A			https://www.ncbi.nlm.nih.gov/omim/?term=605680	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ1A&submit=Quick%0D%16940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ1A	rs17526787	0.286941	0	0	1	0	0	intronic	intronic	intronic	BAZ1A	BAZ1A	ENSG00000198604	Na	Na	Na	Na	Na	Na	Het;G>A	214;21|10	Hom;G>A	954;0|31
N	N	-	14	35243006	35243006	G	A	snp	intronic	 	 	 	 	BAZ1A	Baz1a	ENSG00000198604	bromodomain adjacent to zinc finger domain 1A	chr14:35221937-35344853	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis.		GO:0006261;DNA-dependent DNA replication;IDA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0008623;CHRAC;IDA|GO:0016590;ACF complex;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ1A			https://www.ncbi.nlm.nih.gov/omim/?term=605680	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ1A&submit=Quick%0D%16940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ1A	rs2275146	0.586062	0	0	1	0	0	intronic	intronic	intronic	BAZ1A	BAZ1A	ENSG00000198604	Na	Na	Na	Na	Na	Na	Het;G>A	550;38|27	Hom;G>A	1282;0|46
N	N	-	14	35295143	35295143	C	CA	indel	intronic	 	 	 	 	BAZ1A	Baz1a	ENSG00000198604	bromodomain adjacent to zinc finger domain 1A	chr14:35221937-35344853	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis.		GO:0006261;DNA-dependent DNA replication;IDA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0008623;CHRAC;IDA|GO:0016590;ACF complex;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ1A			https://www.ncbi.nlm.nih.gov/omim/?term=605680	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ1A&submit=Quick%0D%16940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ1A	rs35525726	0.548522	0	0	1	0	0	intronic	intronic	intronic	BAZ1A	BAZ1A	ENSG00000198604	Na	Na	Na	Na	Na	Na	Het;+A	184;14|11	Hom;+A	512;0|20
N	N	-	14	35342838	35342838	A	C	snp	intronic	 	 	 	 	BAZ1A	Baz1a	ENSG00000198604	bromodomain adjacent to zinc finger domain 1A	chr14:35221937-35344853	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis.		GO:0006261;DNA-dependent DNA replication;IDA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0008623;CHRAC;IDA|GO:0016590;ACF complex;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ1A			https://www.ncbi.nlm.nih.gov/omim/?term=605680	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ1A&submit=Quick%0D%16940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ1A	rs3783313	0.649561	0	0	1	0	0	intronic	intronic	intronic	BAZ1A	BAZ1A	ENSG00000198604	Na	Na	Na	Na	Na	Na	Het;A>C	56;1|4	Hom;A>C	217;0|8
N	N	-	14	39512122	39512122	T	A	snp	intronic	 	 	 	 	SEC23A	Sec23a	ENSG00000100934	Sec23 homolog A, coat complex II component	chr14:39501123-39578850	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele die during mid-embryogenesis exhibiting defects in neural tube closure and extraembryonic membrane formation as well as broad secretion defects of multiple collagen species in different tissues.	Antigen Presentation: Folding, assembly and peptide loading of class I MHC	GO:0002474;antigen processing and presentation of peptide antigen via MHC class I;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IEA|GO:0030127;COPII vesicle coat;IEA|GO:0030134;ER to Golgi transport vesicle;IEA|GO:0030868;smooth endoplasmic reticulum membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23A	https://www.uniprot.org/uniprot/Q15436	https://hpo.jax.org/app/browse/search?q=SEC23A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610511	http://www.informatics.jax.org/searchtool/Search.do?query=SEC23A&submit=Quick%0D%2623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23A	rs4902326	0.728435	0.7690	0.7520	1	0	0	intronic	intronic	intronic	SEC23A	SEC23A	ENSG00000100934	Na	Na	Na	Na	Na	Na	Het;T>A	795;15|38	Hom;T>A	1550;0|57
N	N	-	14	40051406	40051406	C	G	snp	intergenic	 	 	 	 	AL049875.1																		rs9323002	0.306909	0	0	1	0	0	intergenic	intergenic	intergenic	FBXO33(dist=149702),LOC644919(dist=1372510)	FBXO33(dist=149702),BX248273(dist=1372510)	ENSG00000258526(dist=68422),ENSG00000258418(dist=804050)	Na	Na	Na	Na	Na	Na	Het;C>G	575;43|32	Hom;C>G	2016;0|69
N	N	-	14	40301389	40301389	G	GCA	indel	intergenic	 	 	 	 	AL049875.1																		rs34345295	0.49401	0	0	1	0	0	intergenic	intergenic	intergenic	FBXO33(dist=399685),LOC644919(dist=1122527)	FBXO33(dist=399685),BX248273(dist=1122527)	ENSG00000258526(dist=318405),ENSG00000258418(dist=554067)	Na	Na	Na	Na	Na	Na	Het;+CA	991;25|31	Hom;+CA	1395;0|37
N	N	-	14	40549736	40549736	G	A	snp	intergenic	 	 	 	 	AL049875.1																		rs12878392	0.451078	0	0	1	0	0	intergenic	intergenic	intergenic	FBXO33(dist=648032),LOC644919(dist=874180)	FBXO33(dist=648032),BX248273(dist=874180)	ENSG00000258526(dist=566752),ENSG00000258418(dist=305720)	Na	Na	Na	Na	Na	Na	Het;G>A	191;11|11	Hom;G>A	796;0|31
N	N	-	14	42473895	42473895	G	A	snp	intergenic	 	 	 	 	ENSG00000266500																		rs1684678	0.821685	0	0	1	0	0	intergenic	intergenic	intergenic	LRFN5(dist=100143),NONE(dist=NONE)	LRFN5(dist=100143),NONE(dist=NONE)	ENSG00000266500(dist=52132),ENSG00000259149(dist=255039)	Na	Na	Na	Na	Na	Na	Het;G>A	265;10|12	Hom;G>A	458;0|17
N	N	-	14	42823749	42823749	A	G	snp	intergenic	 	 	 	 	ENSG00000222084																		rs2626411	0.0876597	0	0	1	0	0	intergenic	intergenic	intergenic	LRFN5(dist=449997),NONE(dist=NONE)	LRFN5(dist=449997),NONE(dist=NONE)	ENSG00000222084(dist=53684),ENSG00000258394(dist=8437)	Na	Na	Na	Na	Na	Na	Het;A>G	168;7|10	Hom;A>G	481;0|18
N	N	-	14	44323809	44323809	T	TATG	indel	intergenic	 	 	 	 	AL358913.2																		rs150050369	0.498003	0	0	1	0	0	intergenic	intergenic	intergenic	LRFN5(dist=1950057),FSCB(dist=649545)	LRFN5(dist=1950057),FSCB(dist=649545)	ENSG00000258894(dist=257923),ENSG00000258969(dist=141175)	Na	Na	Na	Na	Na	Na	Het;+ATG	360;13|10	Hom;+ATG	1355;0|32
N	N	-	14	46116521	46116521	T	TCC	indel	intergenic	 	 	 	 	AL139354.1																		rs34848932	0.464856	0	0	1	0	0	intergenic	intergenic	intergenic	MIS18BP1(dist=393916),LINC00871(dist=416841)	MIS18BP1(dist=393916),LINC00871(dist=416841)	ENSG00000258845(dist=78249),ENSG00000258616(dist=58932)	Na	Na	Na	Na	Na	Na	Het;+CC	159;11|9	Hom;+CC	323;0|8
N	N	-	14	46116531	46116532	GC	G	indel	intergenic	 	 	 	 	AL139354.1																		rs371797150	0.464856	0	0	1	0	0	intergenic	intergenic	intergenic	MIS18BP1(dist=393926),LINC00871(dist=416830)	MIS18BP1(dist=393926),LINC00871(dist=416830)	ENSG00000258845(dist=78259),ENSG00000258616(dist=58921)	Na	Na	Na	Na	Na	Na	Het;-C	160;11|9	Hom;-C	323;0|8
N	N	-	14	46827386	46827386	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00871																		rs34341423	0.274361	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00871	LINC00871	ENSG00000258700	Na	Na	Na	Na	Na	Na	Het;A>G	173;3|5	Hom;A>G	222;0|6
N	N	-	14	46827388	46827391	GTTT	G	indel	ncRNA_intronic	 	 	 	 	LINC00871																		rs35552072	0.274361	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00871	LINC00871	ENSG00000258700	Na	Na	Na	Na	Na	Na	Het;-TTT	164;3|5	Hom;-TTT	213;0|5
N	N	-	14	48309110	48309110	T	C	snp	intergenic	 	 	 	 	AL121576.1																		rs2224284	0.659545	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00648(dist=44893),RPS29(dist=1734280)	LINC00648(dist=44893),SNORD112(dist=1101540)	ENSG00000259117(dist=37706),ENSG00000258639(dist=205574)	Na	Na	Na	Na	Na	Na	Het;T>C	249;7|13	Hom;T>C	365;0|14
N	N	-	14	48309139	48309139	A	C	snp	intergenic	 	 	 	 	AL121576.1																		rs8003687	0.660144	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00648(dist=44922),RPS29(dist=1734251)	LINC00648(dist=44922),SNORD112(dist=1101511)	ENSG00000259117(dist=37735),ENSG00000258639(dist=205545)	Na	Na	Na	Na	Na	Na	Het;A>C	306;16|16	Hom;A>C	707;0|27
N	N	-	14	48309156	48309156	G	A	snp	intergenic	 	 	 	 	AL121576.1																		rs8004115	0.660144	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00648(dist=44939),RPS29(dist=1734234)	LINC00648(dist=44939),SNORD112(dist=1101494)	ENSG00000259117(dist=37752),ENSG00000258639(dist=205528)	Na	Na	Na	Na	Na	Na	Het;G>A	290;21|17	Hom;G>A	801;0|31
N	N	-	14	48309274	48309274	G	A	snp	intergenic	 	 	 	 	AL121576.1																		rs8004429	0.659145	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00648(dist=45057),RPS29(dist=1734116)	LINC00648(dist=45057),SNORD112(dist=1101376)	ENSG00000259117(dist=37870),ENSG00000258639(dist=205410)	Na	Na	Na	Na	Na	Na	Het;G>A	138;10|5	Hom;G>A	352;0|12
N	N	-	14	48359274	48359274	T	C	snp	intergenic	 	 	 	 	AL121576.1																		rs2416127	0.555312	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00648(dist=95057),RPS29(dist=1684116)	LINC00648(dist=95057),SNORD112(dist=1051376)	ENSG00000259117(dist=87870),ENSG00000258639(dist=155410)	Na	Na	Na	Na	Na	Na	Het;T>C	36;4|3	Hom;T>C	207;0|9
N	N	-	14	48408730	48408730	T	A	snp	intergenic	 	 	 	 	AL121576.1																		rs1581371	0.272564	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00648(dist=144513),RPS29(dist=1634660)	LINC00648(dist=144513),SNORD112(dist=1001920)	ENSG00000259117(dist=137326),ENSG00000258639(dist=105954)	Na	Na	Na	Na	Na	Na	Het;T>A	104;1|5	Hom;T>A	75;0|3
N	N	-	14	49209046	49209046	C	G	snp	intergenic	 	 	 	 	ENSG00000251731																		rs72622420	0.200479	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00648(dist=944829),RPS29(dist=834344)	LINC00648(dist=944829),SNORD112(dist=201604)	ENSG00000251731(dist=245779),ENSG00000258381(dist=79517)	Na	Na	Na	Na	Na	Na	Het;C>G	112;5|4	Hom;C>G	388;0|10
N	N	-	14	50585574	50585574	C	CA	indel	intronic	 	 	 	 	SOS2	Sos2	ENSG00000100485	SOS Ras/Rho guanine nucleotide exchange factor 2	chr14:50583847-50698276	This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]	coronary spastic angina; Socioeconomic Factors; Waist Circumference; Alzheimer's disease	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.	Activation of Rac	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA	GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOS2	https://www.uniprot.org/uniprot/Q07890	https://hpo.jax.org/app/browse/search?q=SOS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601247	http://www.informatics.jax.org/searchtool/Search.do?query=SOS2&submit=Quick%0D%2537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS2	rs10658395	0.503195	0.5416	0.5487	1	0	0	intronic	intronic	intronic	SOS2	SOS2	ENSG00000100485	Na	Na	Na	Na	Na	Na	Het;+A	180;39|14	Hom;+A	995;2|42
N	N	-	14	50616878	50616878	G	A	snp	synonymous SNV	C2232T	N744N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SOS2	Sos2	ENSG00000100485	SOS Ras/Rho guanine nucleotide exchange factor 2	chr14:50583847-50698276	This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]	coronary spastic angina; Socioeconomic Factors; Waist Circumference; Alzheimer's disease	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.	Activation of Rac	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA	GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOS2	https://www.uniprot.org/uniprot/Q07890	https://hpo.jax.org/app/browse/search?q=SOS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601247	http://www.informatics.jax.org/searchtool/Search.do?query=SOS2&submit=Quick%0D%2537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS2	rs2229869	0.518371	0.6080	0.6215	1	0	0	exonic	exonic	exonic	SOS2	SOS2	ENSG00000100485	synonymous SNV	synonymous SNV	unknown	SOS2:NM_006939:exon14:c.C2232T:p.N744N,	SOS2:uc001wxs.4:exon14:c.C2232T:p.N744N,SOS2:uc010tql.2:exon13:c.C2133T:p.N711N,	UNKNOWN	Het;G>A	1859;60|92	Hom;G>A	4198;2|164
N	N	-	14	50623657	50623657	G	A	snp	nonsynonymous SNV	C1181T	T394I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SOS2	Sos2	ENSG00000100485	SOS Ras/Rho guanine nucleotide exchange factor 2	chr14:50583847-50698276	This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]	coronary spastic angina; Socioeconomic Factors; Waist Circumference; Alzheimer's disease	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.	Activation of Rac	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA	GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOS2	https://www.uniprot.org/uniprot/Q07890	https://hpo.jax.org/app/browse/search?q=SOS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601247	http://www.informatics.jax.org/searchtool/Search.do?query=SOS2&submit=Quick%0D%2537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS2	rs3736759	0.448882	0	0.7132	1	0	0	intronic	exonic	intronic	SOS2	SOS2	ENSG00000100485	Na	nonsynonymous SNV	Na	Na	SOS2:uc001wxt.2:exon6:c.C1181T:p.T394I,	Na	Het;G>A	551;2|16	Hom;G>A	1330;0|37
N	N	-	14	50623679	50623679	G	A	snp	nonsynonymous SNV	C1159T	H387Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	SOS2	Sos2	ENSG00000100485	SOS Ras/Rho guanine nucleotide exchange factor 2	chr14:50583847-50698276	This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]	coronary spastic angina; Socioeconomic Factors; Waist Circumference; Alzheimer's disease	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.	Activation of Rac	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA	GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOS2	https://www.uniprot.org/uniprot/Q07890	https://hpo.jax.org/app/browse/search?q=SOS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601247	http://www.informatics.jax.org/searchtool/Search.do?query=SOS2&submit=Quick%0D%2537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS2	rs3736760	0.595248	0	0.6527	1	0	0	intronic	exonic	intronic	SOS2	SOS2	ENSG00000100485	Na	nonsynonymous SNV	Na	Na	SOS2:uc001wxt.2:exon6:c.C1159T:p.H387Y,	Na	Het;G>A	616;2|20	Hom;G>A	1573;0|46
N	N	-	14	50623683	50623683	A	G	snp	synonymous SNV	T1155C	Y385Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	SOS2	Sos2	ENSG00000100485	SOS Ras/Rho guanine nucleotide exchange factor 2	chr14:50583847-50698276	This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]	coronary spastic angina; Socioeconomic Factors; Waist Circumference; Alzheimer's disease	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.	Activation of Rac	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA	GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOS2	https://www.uniprot.org/uniprot/Q07890	https://hpo.jax.org/app/browse/search?q=SOS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601247	http://www.informatics.jax.org/searchtool/Search.do?query=SOS2&submit=Quick%0D%2537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS2	rs3736761	0.61262	0	0.6690	1	0	0	intronic	exonic	intronic	SOS2	SOS2	ENSG00000100485	Na	synonymous SNV	Na	Na	SOS2:uc001wxt.2:exon6:c.T1155C:p.Y385Y,	Na	Het;A>G	616;2|20	Hom;A>G	1573;0|46
N	N	-	14	51289874	51289874	G	T	snp	ncRNA_intronic	 	 	 	 	AL133485.1																		rs1547077	0.828474	0	0.6233	1	0	0	intronic	intronic	ncRNA_intronic	NIN	NIN	ENSG00000258843	Na	Na	Na	Na	Na	Na	Het;G>T	1132;11|47	Hom;G>T	1191;2|46
N	N	-	14	51368495	51368495	G	A	snp	intronic	 	 	 	 	ABHD12B	Abhd12b	ENSG00000131969	abhydrolase domain containing 12B	chr14:51338878-51371688		Respiratory Function Tests; Body Mass Index; Heart Rate	 				GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABHD12B	https://www.uniprot.org/uniprot/Q7Z5M8			http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12B&submit=Quick%0D%6610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12B	rs17123103	0.284545	0.1650	0	1	0	0	intronic	intronic	intronic	ABHD12B	ABHD12B	ENSG00000100504,ENSG00000131969	Na	Na	Na	Na	Na	Na	Het;G>A	73;7|5	Hom;G>A	347;0|13
N	N	-	14	51368610	51368610	A	G	snp	nonsynonymous SNV	A844G	I282V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ABHD12B	Abhd12b	ENSG00000131969	abhydrolase domain containing 12B	chr14:51338878-51371688		Respiratory Function Tests; Body Mass Index; Heart Rate	 				GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABHD12B	https://www.uniprot.org/uniprot/Q7Z5M8			http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12B&submit=Quick%0D%6610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12B	rs28564871	0.283746	0.1777	0.2462	0.15	2	13	exonic	exonic	exonic	ABHD12B	ABHD12B	ENSG00000131969	nonsynonymous SNV	nonsynonymous SNV	unknown	ABHD12B:NM_001206673:exon10:c.A844G:p.I282V,ABHD12B:NM_181814:exon8:c.A613G:p.I205V,	ABHD12B:uc001wyr.3:exon8:c.A613G:p.I205V,ABHD12B:uc001wys.3:exon10:c.A844G:p.I282V,ABHD12B:uc001wyq.3:exon9:c.A523G:p.I175V,	UNKNOWN	Het;A>G	360;24|19	Hom;A>G	960;1|40
N	N	-	14	51370784	51370784	G	C	snp	intronic	 	 	 	 	ABHD12B	Abhd12b	ENSG00000131969	abhydrolase domain containing 12B	chr14:51338878-51371688		Respiratory Function Tests; Body Mass Index; Heart Rate	 				GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABHD12B	https://www.uniprot.org/uniprot/Q7Z5M8			http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12B&submit=Quick%0D%6610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12B	rs4901064	0.283746	0.1784	0.2481	1	0	0	intronic	intronic	intronic	ABHD12B	ABHD12B	ENSG00000100504,ENSG00000131969	Na	Na	Na	Na	Na	Na	Het;G>C	725;20|29	Hom;G>C	1107;0|39
N	N	-	14	51371121	51371121	C	T	snp	UTR3	*37C>T	 	 	 	ABHD12B	Abhd12b	ENSG00000131969	abhydrolase domain containing 12B	chr14:51338878-51371688		Respiratory Function Tests; Body Mass Index; Heart Rate	 				GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABHD12B	https://www.uniprot.org/uniprot/Q7Z5M8			http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12B&submit=Quick%0D%6610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12B	rs4901065	0.283746	0.1782	0.2442	1	0	0	UTR3	UTR3	UTR3	ABHD12B(NM_181814:c.*37C>T,NM_001206673:c.*37C>T)	ABHD12B(uc001wys.3:c.*37C>T,uc001wyr.3:c.*37C>T,uc001wyq.3:c.*37C>T)	ENSG00000131969(ENST00000395752:c.*37C>T,ENST00000557345:c.*639C>T,ENST00000337334:c.*37C>T,ENST00000382029:c.*815C>T,ENST00000353130:c.*37C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1661;53|47	Hom;C>T	3298;2|77
N	N	-	14	51371130	51371130	C	T	snp	UTR3	*46C>T	 	 	 	ABHD12B	Abhd12b	ENSG00000131969	abhydrolase domain containing 12B	chr14:51338878-51371688		Respiratory Function Tests; Body Mass Index; Heart Rate	 				GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABHD12B	https://www.uniprot.org/uniprot/Q7Z5M8			http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12B&submit=Quick%0D%6610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12B	rs11157780	0.250799	0.1502	0.2358	1	0	0	UTR3	UTR3	UTR3	ABHD12B(NM_181814:c.*46C>T,NM_001206673:c.*46C>T)	ABHD12B(uc001wys.3:c.*46C>T,uc001wyr.3:c.*46C>T,uc001wyq.3:c.*46C>T)	ENSG00000131969(ENST00000395752:c.*46C>T,ENST00000557345:c.*648C>T,ENST00000337334:c.*46C>T,ENST00000382029:c.*824C>T,ENST00000353130:c.*46C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1532;51|41	Hom;C>T	3227;2|73
N	N	-	14	51371150	51371150	C	T	snp	UTR3	*66C>T	 	 	 	ABHD12B	Abhd12b	ENSG00000131969	abhydrolase domain containing 12B	chr14:51338878-51371688		Respiratory Function Tests; Body Mass Index; Heart Rate	 				GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABHD12B	https://www.uniprot.org/uniprot/Q7Z5M8			http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12B&submit=Quick%0D%6610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12B	rs11157781	0.283746	0.1695	0	1	0	0	UTR3	UTR3	UTR3	ABHD12B(NM_181814:c.*66C>T,NM_001206673:c.*66C>T)	ABHD12B(uc001wys.3:c.*66C>T,uc001wyr.3:c.*66C>T,uc001wyq.3:c.*66C>T)	ENSG00000131969(ENST00000395752:c.*66C>T,ENST00000557345:c.*668C>T,ENST00000337334:c.*66C>T,ENST00000382029:c.*844C>T,ENST00000353130:c.*66C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	453;35|23	Hom;C>T	1218;0|45
N	N	-	14	51372098	51372099	CA	C	indel	UTR3	*12_*11delinsG	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs3216001	0.458866	0.3356	0.3614	1	0	0	UTR3	UTR3	UTR3	PYGL(NM_001163940:c.*12_*11delinsG,NM_002863:c.*12_*11delinsG)	PYGL(uc001wyu.3:c.*12_*11delinsG,uc010tqq.2:c.*12_*11delinsG)	ENSG00000100504(ENST00000544180:c.*12_*11delinsG,ENST00000216392:c.*12_*11delinsG)	Na	Na	Na	Na	Na	Na	Het;-A	1916;44|49	Hom;-A	5628;0|123
N	N	-	14	51372103	51372103	C	G	snp	UTR3	*7G>C	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs1042266	0.250998	0.1501	0.2357	1	0	0	UTR3	UTR3	UTR3	PYGL(NM_001163940:c.*7G>C,NM_002863:c.*7G>C)	PYGL(uc001wyu.3:c.*7G>C,uc010tqq.2:c.*7G>C)	ENSG00000100504(ENST00000544180:c.*7G>C,ENST00000216392:c.*7G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	1954;44|51	Hom;C>G	5686;0|130
N	N	-	14	51372333	51372333	A	G	snp	intronic	 	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs1959527	0.353634	0	0	1	0	0	intronic	intronic	intronic	PYGL	PYGL	ENSG00000100504	Na	Na	Na	Na	Na	Na	Het;A>G	908;42|39	Hom;A>G	2364;0|84
N	N	-	14	51375699	51375699	T	TA	indel	intronic	 	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs11414268	0.438498	0.3331	0.3484	1	0	0	intronic	intronic	intronic	PYGL	PYGL	ENSG00000100504	Na	Na	Na	Na	Na	Na	Het;+A	652;50|33	Hom;+A	1838;0|64
N	N	-	14	51375797	51375797	T	G	snp	intronic	 	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs8004768	0.462061	0	0	1	0	0	intronic	intronic	intronic	PYGL	PYGL	ENSG00000100504	Na	Na	Na	Na	Na	Na	Het;T>G	341;24|15	Hom;T>G	1072;1|34
N	N	-	14	51375826	51375826	T	C	snp	intronic	 	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs8004788	0.424121	0	0	1	0	0	intronic	intronic	intronic	PYGL	PYGL	ENSG00000100504	Na	Na	Na	Na	Na	Na	Het;T>C	175;10|6	Hom;T>C	663;0|18
N	N	-	14	51378590	51378591	CT	C	indel	splicing	 	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs11356035	0.551917	0.4435	0.4379	1	0	0	splicing	splicing	splicing	PYGL	PYGL	ENSG00000100504	Na	Na	Na	Na	Na	Na	Het;-T	1274;54|46	Hom;-T	3414;0|99
N	N	-	14	51381950	51381950	T	A	snp	intronic	 	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs2075646	0.235423	0	0	1	0	0	intronic	intronic	intronic	PYGL	PYGL	ENSG00000100504	Na	Na	Na	Na	Na	Na	Het;T>A	93;1|4	Hom;T>A	436;0|14
N	N	-	14	51382405	51382405	T	C	snp	intronic	 	 	 	 	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs1890700	0.548522	0	0	1	0	0	intronic	intronic	intronic	PYGL	PYGL	ENSG00000100504	Na	Na	Na	Na	Na	Na	Het;T>C	149;5|5	Hom;T>C	138;0|4
N	N	-	14	51383432	51383432	G	A	snp	synonymous SNV	C429T	D143D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PYGL	Pygl	ENSG00000100504	glycogen phosphorylase L	chr14:51324609-51411454	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]	Tobacco Use Disorder; diabetes, type 1; longevity	 	Glycogen breakdown (glycogenolysis)	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PYGL	https://www.uniprot.org/uniprot/P06737	https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613741	http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL	rs2075643	0.235423	0.1382	0.2253	1	0	0	exonic	exonic	exonic	PYGL	PYGL	ENSG00000100504	synonymous SNV	synonymous SNV	unknown	PYGL:NM_002863:exon9:c.C1020T:p.D340D,PYGL:NM_001163940:exon8:c.C918T:p.D306D,	PYGL:uc010anz.1:exon5:c.C429T:p.D143D,PYGL:uc010tqq.2:exon8:c.C918T:p.D306D,PYGL:uc001wyu.3:exon9:c.C1020T:p.D340D,	UNKNOWN	Het;G>A	288;24|16	Hom;G>A	839;0|33
N	N	-	14	51967566	51967566	G	A	snp	ncRNA_intronic	 	 	 	 	FRMD6-AS2																		rs10400723	0.413738	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FRMD6-AS2	FRMD6-AS2	ENSG00000258537	Na	Na	Na	Na	Na	Na	Het;G>A	92;2|3	Hom;G>A	197;0|5
N	N	-	14	51967567	51967567	C	G	snp	ncRNA_intronic	 	 	 	 	FRMD6-AS2																		rs10400720	0.414736	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FRMD6-AS2	FRMD6-AS2	ENSG00000258537	Na	Na	Na	Na	Na	Na	Het;C>G	92;2|3	Hom;C>G	197;0|5
N	N	-	14	52223258	52223258	T	C	snp	ncRNA_intronic	 	 	 	 	AL079307.2																		rs4901151	0.430112	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FRMD6(dist=25814),GNG2(dist=103764)	FRMD6(dist=25814),NONE(dist=NONE)	ENSG00000259111	Na	Na	Na	Na	Na	Na	Het;T>C	114;9|7	Hom;T>C	355;0|15
N	N	-	14	52468641	52468641	G	A	snp	intronic	 	 	 	 	C14orf166	2700060E02Rik	ENSG00000087302	chromosome 14 open reading frame 166	chr14:52456193-52471420			 	tRNA processing in the nucleus	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0016032;viral process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0050658;RNA transport;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0072669;tRNA-splicing ligase complex;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C14orf166	https://www.uniprot.org/uniprot/Q9Y224		https://www.ncbi.nlm.nih.gov/omim/?term=610858	http://www.informatics.jax.org/searchtool/Search.do?query=C14orf166&submit=Quick%0D%1970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf166	rs1151573	0.429912	0.3239	0	1	0	0	intronic	intronic	intronic	C14orf166	C14orf166	ENSG00000087302	Na	Na	Na	Na	Na	Na	Het;G>A	419;14|18	Hom;G>A	1066;0|38
N	N	-	14	52471017	52471017	G	GAAAT	indel	intronic	 	 	 	 	C14orf166	2700060E02Rik	ENSG00000087302	chromosome 14 open reading frame 166	chr14:52456193-52471420			 	tRNA processing in the nucleus	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0016032;viral process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0050658;RNA transport;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0072669;tRNA-splicing ligase complex;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C14orf166	https://www.uniprot.org/uniprot/Q9Y224		https://www.ncbi.nlm.nih.gov/omim/?term=610858	http://www.informatics.jax.org/searchtool/Search.do?query=C14orf166&submit=Quick%0D%1970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf166	rs34688526	0.491613	0.4282	0	1	0	0	intronic	intronic	intronic	C14orf166	C14orf166	ENSG00000087302	Na	Na	Na	Na	Na	Na	Het;+AAAT	483;9|14	Hom;+AAAT	1212;0|28
N	N	-	14	52472620	52472624	AAGTC	A	indel	intronic	 	 	 	 	NID2	Nid2	ENSG00000087303	nidogen 2	chr14:52471521-52535712	This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]	Triglycerides; pulmonary function traits (other); Coronary Artery Disease; Maximal Midexpiratory Flow Rate	Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis.	Laminin interactions	GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NID2	https://www.uniprot.org/uniprot/Q14112		https://www.ncbi.nlm.nih.gov/omim/?term=605399	http://www.informatics.jax.org/searchtool/Search.do?query=NID2&submit=Quick%0D%1971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID2	rs3841693	0.417732	0	0	1	0	0	intronic	intronic	intronic	NID2	NID2	ENSG00000087303	Na	Na	Na	Na	Na	Na	Het;-AGTC	864;15|23	Hom;-AGTC	1093;0|26
N	N	-	14	52474721	52474721	C	T	snp	intronic	 	 	 	 	NID2	Nid2	ENSG00000087303	nidogen 2	chr14:52471521-52535712	This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]	Triglycerides; pulmonary function traits (other); Coronary Artery Disease; Maximal Midexpiratory Flow Rate	Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis.	Laminin interactions	GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NID2	https://www.uniprot.org/uniprot/Q14112		https://www.ncbi.nlm.nih.gov/omim/?term=605399	http://www.informatics.jax.org/searchtool/Search.do?query=NID2&submit=Quick%0D%1971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID2	rs1476284	0.415935	0.3223	0.3881	1	0	0	intronic	intronic	intronic	NID2	NID2	ENSG00000087303	Na	Na	Na	Na	Na	Na	Het;C>T	493;23|26	Hom;C>T	1135;0|41
N	N	-	14	52474818	52474821	TTAG	T	indel	intronic	 	 	 	 	NID2	Nid2	ENSG00000087303	nidogen 2	chr14:52471521-52535712	This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]	Triglycerides; pulmonary function traits (other); Coronary Artery Disease; Maximal Midexpiratory Flow Rate	Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis.	Laminin interactions	GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NID2	https://www.uniprot.org/uniprot/Q14112		https://www.ncbi.nlm.nih.gov/omim/?term=605399	http://www.informatics.jax.org/searchtool/Search.do?query=NID2&submit=Quick%0D%1971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID2	rs111746086	0.283746	0	0	1	0	0	intronic	intronic	intronic	NID2	NID2	ENSG00000087303	Na	Na	Na	Na	Na	Na	Het;-TAG	80;3|3	Hom;-TAG	98;0|3
N	N	-	14	52478315	52478315	A	G	snp	synonymous SNV	T3507C	A1169A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NID2	Nid2	ENSG00000087303	nidogen 2	chr14:52471521-52535712	This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]	Triglycerides; pulmonary function traits (other); Coronary Artery Disease; Maximal Midexpiratory Flow Rate	Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis.	Laminin interactions	GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NID2	https://www.uniprot.org/uniprot/Q14112		https://www.ncbi.nlm.nih.gov/omim/?term=605399	http://www.informatics.jax.org/searchtool/Search.do?query=NID2&submit=Quick%0D%1971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID2	rs1051069	0.690495	0.6129	0.5942	1	0	0	exonic	exonic	exonic	NID2	NID2	ENSG00000087303	synonymous SNV	synonymous SNV	unknown	NID2:NM_007361:exon17:c.T3507C:p.A1169A,	NID2:uc001wzo.3:exon17:c.T3507C:p.A1169A,NID2:uc010tqt.1:exon17:c.T3507C:p.A1169A,NID2:uc010tqs.2:exon16:c.T3363C:p.A1121A,	UNKNOWN	Het;A>G	2307;89|111	Hom;A>G	4582;0|170
N	N	-	14	52481917	52481917	C	T	snp	synonymous SNV	G3105A	R1035R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	NID2	Nid2	ENSG00000087303	nidogen 2	chr14:52471521-52535712	This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]	Triglycerides; pulmonary function traits (other); Coronary Artery Disease; Maximal Midexpiratory Flow Rate	Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis.	Laminin interactions	GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NID2	https://www.uniprot.org/uniprot/Q14112		https://www.ncbi.nlm.nih.gov/omim/?term=605399	http://www.informatics.jax.org/searchtool/Search.do?query=NID2&submit=Quick%0D%1971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID2	rs946615	0.459465	0.3381	0.3486	1	0	0	exonic	exonic	exonic	NID2	NID2	ENSG00000087303	synonymous SNV	synonymous SNV	unknown	NID2:NM_007361:exon15:c.G3105A:p.R1035R,	NID2:uc001wzo.3:exon15:c.G3105A:p.R1035R,NID2:uc010tqt.1:exon15:c.G3105A:p.R1035R,NID2:uc001wzp.3:exon15:c.G3105A:p.R1035R,NID2:uc010tqs.2:exon14:c.G2961A:p.R987R,	UNKNOWN	Het;C>T	1399;77|69	Hom;C>T	3480;0|129
N	N	-	14	52494072	52494072	G	A	snp	intronic	 	 	 	 	NID2	Nid2	ENSG00000087303	nidogen 2	chr14:52471521-52535712	This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]	Triglycerides; pulmonary function traits (other); Coronary Artery Disease; Maximal Midexpiratory Flow Rate	Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis.	Laminin interactions	GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NID2	https://www.uniprot.org/uniprot/Q14112		https://www.ncbi.nlm.nih.gov/omim/?term=605399	http://www.informatics.jax.org/searchtool/Search.do?query=NID2&submit=Quick%0D%1971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID2	rs2273429	0.289936	0.1461	0.2049	1	0	0	intronic	intronic	intronic	NID2	NID2	ENSG00000087303	Na	Na	Na	Na	Na	Na	Het;G>A	964;41|45	Hom;G>A	1999;0|75
N	N	-	14	52781195	52781195	G	A	snp	UTR5	-72G>A	 	 	 	PTGER2	Ptger2	ENSG00000125384	prostaglandin E receptor 2	chr14:52781023-52795324	This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]	Alzheimer's disease ; patent ductus arteriosus; myocardial infarct stroke, ischemic; asthma asthma, aspirin-intolerant; Acute Coronary Syndrome|Coronary Artery Disease|; lung cancer ; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adenoma|Colorectal Neoplasms; Inflammation|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Premature Birth; Type 2 Diabetes| edema | rosiglitazone; Infection|Inflammation|Premature Birth; asthma	Homozygotes for one targeted null mutation exhibit increased blood pressure when fed a high-salt diet. Female mutants for 2 null alleles have small litters due to impaired ovulation.	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032570;response to progesterone;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004957;prostaglandin E receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTGER2	https://www.uniprot.org/uniprot/P43116		https://www.ncbi.nlm.nih.gov/omim/?term=176804	http://www.informatics.jax.org/searchtool/Search.do?query=PTGER2&submit=Quick%0D%5766ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGER2	rs1254598	0.48103	0	0	1	0	0	UTR5	UTR5	UTR5	PTGER2(NM_000956:c.-72G>A)	PTGER2(uc001wzr.3:c.-72G>A)	ENSG00000125384(ENST00000557436:c.-837G>A,ENST00000245457:c.-72G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	185;9|10	Hom;G>A	449;0|16
N	N	-	14	52794234	52794234	T	C	snp	UTR3	*62T>C	 	 	 	PTGER2	Ptger2	ENSG00000125384	prostaglandin E receptor 2	chr14:52781023-52795324	This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]	Alzheimer's disease ; patent ductus arteriosus; myocardial infarct stroke, ischemic; asthma asthma, aspirin-intolerant; Acute Coronary Syndrome|Coronary Artery Disease|; lung cancer ; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adenoma|Colorectal Neoplasms; Inflammation|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Premature Birth; Type 2 Diabetes| edema | rosiglitazone; Infection|Inflammation|Premature Birth; asthma	Homozygotes for one targeted null mutation exhibit increased blood pressure when fed a high-salt diet. Female mutants for 2 null alleles have small litters due to impaired ovulation.	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032570;response to progesterone;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0071380;cellular response to prostaglandin E stimulus;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004957;prostaglandin E receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTGER2	https://www.uniprot.org/uniprot/P43116		https://www.ncbi.nlm.nih.gov/omim/?term=176804	http://www.informatics.jax.org/searchtool/Search.do?query=PTGER2&submit=Quick%0D%5766ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGER2	rs708502	0.65655	0	0	1	0	0	UTR3	UTR3	UTR3	PTGER2(NM_000956:c.*62T>C)	PTGER2(uc001wzr.3:c.*62T>C)	ENSG00000125384(ENST00000245457:c.*62T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	449;17|20	Hom;T>C	691;0|23
N	N	-	14	53110384	53110384	T	C	snp	intronic	 	 	 	 	ERO1L	 																	rs4898762	0.410942	0.4367	0.5285	1	0	0	intronic	intronic	intronic	ERO1L	ERO1L	ENSG00000197930	Na	Na	Na	Na	Na	Na	Het;T>C	264;13|12	Hom;T>C	518;0|17
N	N	-	14	53177729	53177763	TGAGTGTTTGGCTTCTAAATATTAAACTCTCGTTA	T	indel	intronic	 	 	 	 	PSMC6	Psmc6	ENSG00000100519	proteasome 26S subunit, ATPase 6	chr14:53173890-53195305	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IC|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045899;positive regulation of RNA polymerase II transcriptional preinitiation complex assembly;IBA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090261;positive regulation of inclusion body assembly;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1901800;positive regulation of proteasomal protein catabolic process;IEA	GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008540;proteasome regulatory particle, base subcomplex;IBA|GO:0016020;membrane;IDA|GO:0016234;inclusion body;IEA|GO:0022624;proteasome accessory complex;IEA|GO:0031595;nuclear proteasome complex;IBA|GO:0031597;cytosolic proteasome complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;TAS|GO:0017025;TBP-class protein binding;IBA|GO:0030674;protein binding, bridging;NAS|GO:0036402;proteasome-activating ATPase activity;IBA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PSMC6	https://www.uniprot.org/uniprot/P62333		https://www.ncbi.nlm.nih.gov/omim/?term=602708	http://www.informatics.jax.org/searchtool/Search.do?query=PSMC6&submit=Quick%0D%2542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMC6	rs113933546	0.455072	0	0	1	0	0	intronic	intronic	intronic	PSMC6	PSMC6	ENSG00000100519	Na	Na	Na	Na	Na	Na	Het;-GAGTGTTTGGCTTCTAAATATTAAACTCTCGTTA	225;11|7	Hom;-GAGTGTTTGGCTTCTAAATATTAAACTCTCGTTA	183;0|5
N	N	-	14	53194419	53194419	T	C	snp	UTR3	*84T>C	 	 	 	PSMC6	Psmc6	ENSG00000100519	proteasome 26S subunit, ATPase 6	chr14:53173890-53195305	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IC|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045899;positive regulation of RNA polymerase II transcriptional preinitiation complex assembly;IBA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090261;positive regulation of inclusion body assembly;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1901800;positive regulation of proteasomal protein catabolic process;IEA	GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008540;proteasome regulatory particle, base subcomplex;IBA|GO:0016020;membrane;IDA|GO:0016234;inclusion body;IEA|GO:0022624;proteasome accessory complex;IEA|GO:0031595;nuclear proteasome complex;IBA|GO:0031597;cytosolic proteasome complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;TAS|GO:0017025;TBP-class protein binding;IBA|GO:0030674;protein binding, bridging;NAS|GO:0036402;proteasome-activating ATPase activity;IBA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PSMC6	https://www.uniprot.org/uniprot/P62333		https://www.ncbi.nlm.nih.gov/omim/?term=602708	http://www.informatics.jax.org/searchtool/Search.do?query=PSMC6&submit=Quick%0D%2542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMC6	rs6696	0.639976	0	0	1	0	0	UTR3	UTR3	UTR3	PSMC6(NM_002806:c.*84T>C)	PSMC6(uc010tqx.2:c.*84T>C)	ENSG00000100519(ENST00000445930:c.*84T>C,ENST00000606149:c.*84T>C,ENST00000555175:c.*257T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	364;7|16	Hom;T>C	1071;0|38
N	N	-	14	53197042	53197042	G	C	snp	UTR5	-151G>C	 	 	 	STYX	Styx	ENSG00000198252	serine/threonine/tyrosine interacting protein	chr14:53196898-53241716	The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011]	Azoospermia|Infertility, Male|Oligospermia	Males homozygous for a targeted null mutation are sterile due to a deficiency of germ cells at the immature, round, and elongating spermatid stages. Residual epididymal sperm have head abnormalities.		GO:0006470;protein dephosphorylation;IEA|GO:0007283;spermatogenesis;IBA|GO:0016311;dephosphorylation;IEA|GO:0045204;MAPK export from nucleus;IMP|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STYX			https://www.ncbi.nlm.nih.gov/omim/?term=615814	http://www.informatics.jax.org/searchtool/Search.do?query=STYX&submit=Quick%0D%16856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STYX	rs2277493	0.653954	0	0	1	0	0	UTR5	UTR5	UTR5	STYX(NM_145251:c.-151G>C)	STYX(uc001xaa.3:c.-151G>C)	ENSG00000198252(ENST00000354586:c.-151G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	126;5|7	Hom;G>C	415;0|14
N	N	-	14	54458078	54458078	C	T	snp	ncRNA_exonic	 	 	 	 	ATP5C1P1																		rs1957844	0.553514	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BMP4(dist=34524),CDKN3(dist=405595)	BMP4(dist=34524),CDKN3(dist=405595)	ENSG00000224004	Na	Na	Na	Na	Na	Na	Het;C>T	387;19|17	Hom;C>T	900;0|31
N	N	-	14	54458159	54458159	T	C	snp	ncRNA_exonic	 	 	 	 	ATP5C1P1																		rs1957845	0.553714	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BMP4(dist=34605),CDKN3(dist=405514)	BMP4(dist=34605),CDKN3(dist=405514)	ENSG00000224004	Na	Na	Na	Na	Na	Na	Het;T>C	371;14|15	Hom;T>C	971;0|34
N	N	-	14	54573424	54573424	C	T	snp	intergenic	 	 	 	 	ATP5C1P1																		rs4901487	0.65595	0	0	1	0	0	intergenic	intergenic	intergenic	BMP4(dist=149870),CDKN3(dist=290249)	BMP4(dist=149870),CDKN3(dist=290249)	ENSG00000224004(dist=114711),ENSG00000100526(dist=290249)	Na	Na	Na	Na	Na	Na	Het;C>T	297;9|13	Hom;C>T	489;0|16
N	N	-	14	54673460	54673460	C	A	snp	intergenic	 	 	 	 	ATP5C1P1																		rs2050670	0.626597	0	0	1	0	0	intergenic	intergenic	intergenic	BMP4(dist=249906),CDKN3(dist=190213)	BMP4(dist=249906),CDKN3(dist=190213)	ENSG00000224004(dist=214747),ENSG00000100526(dist=190213)	Na	Na	Na	Na	Na	Na	Het;C>A	127;16|10	Hom;C>A	692;0|27
N	N	-	14	55241558	55241558	G	A	snp	intronic	 	 	 	 	SAMD4A	Samd4	ENSG00000020577	sterile alpha motif domain containing 4A	chr14:55033815-55260033	Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Cholesterol, HDL; Waist Circumference; Breath Tests; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit leaness, myopathy and altered glucose metabolism. Mice homozygous for a spontaneous mutation exhibit kyphosis, abnormal gait, and decreased cortical bone thickness.		GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;IBA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006417;regulation of translation;IEA|GO:0017148;negative regulation of translation;IEA|GO:0043488;regulation of mRNA stability;IBA|GO:0045727;positive regulation of translation;IDA	GO:0000932;P-body;IBA|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0030371;translation repressor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SAMD4A	https://www.uniprot.org/uniprot/Q9UPU9		https://www.ncbi.nlm.nih.gov/omim/?term=610747	http://www.informatics.jax.org/searchtool/Search.do?query=SAMD4A&submit=Quick%0D%658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD4A	rs72713435	0.185304	0	0	1	0	0	intronic	intronic	intronic	SAMD4A	SAMD4A	ENSG00000020577	Na	Na	Na	Na	Na	Na	Het;G>A	92;2|3	Hom;G>A	152;0|4
N	N	-	14	55241559	55241559	A	C	snp	intronic	 	 	 	 	SAMD4A	Samd4	ENSG00000020577	sterile alpha motif domain containing 4A	chr14:55033815-55260033	Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Cholesterol, HDL; Waist Circumference; Breath Tests; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit leaness, myopathy and altered glucose metabolism. Mice homozygous for a spontaneous mutation exhibit kyphosis, abnormal gait, and decreased cortical bone thickness.		GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;IBA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006417;regulation of translation;IEA|GO:0017148;negative regulation of translation;IEA|GO:0043488;regulation of mRNA stability;IBA|GO:0045727;positive regulation of translation;IDA	GO:0000932;P-body;IBA|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0030371;translation repressor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SAMD4A	https://www.uniprot.org/uniprot/Q9UPU9		https://www.ncbi.nlm.nih.gov/omim/?term=610747	http://www.informatics.jax.org/searchtool/Search.do?query=SAMD4A&submit=Quick%0D%658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD4A	rs72713436	0.185304	0	0	1	0	0	intronic	intronic	intronic	SAMD4A	SAMD4A	ENSG00000020577	Na	Na	Na	Na	Na	Na	Het;A>C	92;2|3	Hom;A>C	152;0|4
N	N	-	14	55429902	55429903	AG	A	indel	intronic	 	 	 	 	WDHD1	Wdhd1	ENSG00000198554	WD repeat and HMG-box DNA binding protein 1	chr14:55405668-55493823	The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS	GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDHD1			https://www.ncbi.nlm.nih.gov/omim/?term=608126	http://www.informatics.jax.org/searchtool/Search.do?query=WDHD1&submit=Quick%0D%16924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDHD1	rs34874701	0.469649	0	0.3615	1	0	0	intronic	intronic	intronic	WDHD1	WDHD1	ENSG00000198554	Na	Na	Na	Na	Na	Na	Het;-G	63;2|6	Hom;-G	93;0|5
N	N	-	14	56116576	56116577	AT	A	indel	intronic	 	 	 	 	KTN1	Ktn1	ENSG00000126777	kinectin 1	chr14:56025790-56168244	This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder; Muscular Dystrophies, Limb-Girdle; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.	Post-translational protein phosphorylation	GO:0007018;microtubule-based movement;IEA|GO:0015031;protein transport;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0030176;integral component of endoplasmic reticulum membrane;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KTN1	https://www.uniprot.org/uniprot/Q86UP2		https://www.ncbi.nlm.nih.gov/omim/?term=600381	http://www.informatics.jax.org/searchtool/Search.do?query=KTN1&submit=Quick%0D%5972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KTN1	rs71448463	0.362021	0	0.4444	1	0	0	intronic	intronic	intronic	KTN1	KTN1	ENSG00000126777	Na	Na	Na	Na	Na	Na	Het;-T	398;22|23	Hom;-T	612;0|26
N	N	-	14	56119454	56119454	C	T	snp	intronic	 	 	 	 	KTN1	Ktn1	ENSG00000126777	kinectin 1	chr14:56025790-56168244	This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder; Muscular Dystrophies, Limb-Girdle; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.	Post-translational protein phosphorylation	GO:0007018;microtubule-based movement;IEA|GO:0015031;protein transport;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0030176;integral component of endoplasmic reticulum membrane;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KTN1	https://www.uniprot.org/uniprot/Q86UP2		https://www.ncbi.nlm.nih.gov/omim/?term=600381	http://www.informatics.jax.org/searchtool/Search.do?query=KTN1&submit=Quick%0D%5972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KTN1	rs17684959	0.346446	0	0	1	0	0	intronic	intronic	intronic	KTN1	KTN1	ENSG00000126777	Na	Na	Na	Na	Na	Na	Het;C>T	94;4|4	Hom;C>T	301;0|9
N	N	-	14	56133942	56133942	C	T	snp	intronic	 	 	 	 	KTN1	Ktn1	ENSG00000126777	kinectin 1	chr14:56025790-56168244	This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder; Muscular Dystrophies, Limb-Girdle; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.	Post-translational protein phosphorylation	GO:0007018;microtubule-based movement;IEA|GO:0015031;protein transport;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0030176;integral component of endoplasmic reticulum membrane;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KTN1	https://www.uniprot.org/uniprot/Q86UP2		https://www.ncbi.nlm.nih.gov/omim/?term=600381	http://www.informatics.jax.org/searchtool/Search.do?query=KTN1&submit=Quick%0D%5972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KTN1	rs7150285	0.355232	0.3694	0.3566	1	0	0	intronic	intronic	intronic	KTN1	KTN1	ENSG00000126777	Na	Na	Na	Na	Na	Na	Het;C>T	891;51|43	Hom;C>T	3209;0|124
N	N	-	14	56139313	56139314	GT	G	indel	intronic	 	 	 	 	KTN1	Ktn1	ENSG00000126777	kinectin 1	chr14:56025790-56168244	This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder; Muscular Dystrophies, Limb-Girdle; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.	Post-translational protein phosphorylation	GO:0007018;microtubule-based movement;IEA|GO:0015031;protein transport;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0030176;integral component of endoplasmic reticulum membrane;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KTN1	https://www.uniprot.org/uniprot/Q86UP2		https://www.ncbi.nlm.nih.gov/omim/?term=600381	http://www.informatics.jax.org/searchtool/Search.do?query=KTN1&submit=Quick%0D%5972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KTN1	rs3215766	0.35004	0.3676	0.3581	1	0	0	intronic	intronic	intronic	KTN1	KTN1	ENSG00000126777	Na	Na	Na	Na	Na	Na	Het;-T	504;22|21	Hom;-T	1062;0|35
N	N	-	14	56146228	56146228	T	G	snp	intronic	 	 	 	 	KTN1	Ktn1	ENSG00000126777	kinectin 1	chr14:56025790-56168244	This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder; Muscular Dystrophies, Limb-Girdle; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.	Post-translational protein phosphorylation	GO:0007018;microtubule-based movement;IEA|GO:0015031;protein transport;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0030176;integral component of endoplasmic reticulum membrane;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KTN1	https://www.uniprot.org/uniprot/Q86UP2		https://www.ncbi.nlm.nih.gov/omim/?term=600381	http://www.informatics.jax.org/searchtool/Search.do?query=KTN1&submit=Quick%0D%5972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KTN1	rs12587735	0.383786	0	0	1	0	0	intronic	intronic	intronic	KTN1	KTN1	ENSG00000126777	Na	Na	Na	Na	Na	Na	Het;T>G	294;9|9	Hom;T>G	447;1|12
N	N	-	14	56147540	56147540	G	T	snp	intronic	 	 	 	 	KTN1	Ktn1	ENSG00000126777	kinectin 1	chr14:56025790-56168244	This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder; Muscular Dystrophies, Limb-Girdle; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.	Post-translational protein phosphorylation	GO:0007018;microtubule-based movement;IEA|GO:0015031;protein transport;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0030176;integral component of endoplasmic reticulum membrane;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KTN1	https://www.uniprot.org/uniprot/Q86UP2		https://www.ncbi.nlm.nih.gov/omim/?term=600381	http://www.informatics.jax.org/searchtool/Search.do?query=KTN1&submit=Quick%0D%5972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KTN1	rs10483651	0.303514	0	0	1	0	0	intronic	intronic	intronic	KTN1	KTN1	ENSG00000126777	Na	Na	Na	Na	Na	Na	Het;G>T	91;10|7	Hom;G>T	407;0|15
N	N	-	14	56233561	56233561	G	A	snp	ncRNA_exonic	 	 	 	 	RPL13AP3																		rs12589473	0.54373	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RPL13AP3	RPL13AP3	ENSG00000177350	Na	Na	Na	Na	Na	Na	Het;G>A	1338;52|67	Hom;G>A	2201;0|87
N	N	-	14	57072517	57072517	A	G	snp	intronic	 	 	 	 	TMEM260	Tmem260	ENSG00000070269	transmembrane protein 260	chr14:56955072-57117324		Mental Competency	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM260	https://www.uniprot.org/uniprot/Q9NX78	https://hpo.jax.org/app/browse/search?q=TMEM260&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617449	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM260&submit=Quick%0D%1349ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM260	rs541594173	0.00998403	0	0	1	0	0	intronic	intronic	intronic	TMEM260	TMEM260	ENSG00000070269	Na	Na	Na	Na	Na	Na	Het;A>G	44;2|2	Hom;A>G	311;0|9
N	N	-	14	57075920	57075920	G	T	snp	nonsynonymous SNV	G733T	A245S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	TMEM260	Tmem260	ENSG00000070269	transmembrane protein 260	chr14:56955072-57117324		Mental Competency	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM260	https://www.uniprot.org/uniprot/Q9NX78	https://hpo.jax.org/app/browse/search?q=TMEM260&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617449	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM260&submit=Quick%0D%1349ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM260	rs17776256	0.108826	0.1284	0.1181	0.69	9	13	exonic	exonic	exonic	TMEM260	TMEM260	ENSG00000070269	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM260:NM_017799:exon6:c.G733T:p.A245S,	TMEM260:uc010aot.1:exon6:c.G733T:p.A245S,TMEM260:uc001xck.3:exon6:c.G733T:p.A245S,TMEM260:uc001xcm.3:exon6:c.G733T:p.A245S,	UNKNOWN	Het;G>T	919;53|45	Hom;G>T	3002;2|113
N	N	-	14	57083897	57083897	G	A	snp	intronic	 	 	 	 	TMEM260	Tmem260	ENSG00000070269	transmembrane protein 260	chr14:56955072-57117324		Mental Competency	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM260	https://www.uniprot.org/uniprot/Q9NX78	https://hpo.jax.org/app/browse/search?q=TMEM260&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617449	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM260&submit=Quick%0D%1349ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM260	rs2275023	0.247404	0.2478	0.2033	1	0	0	intronic	intronic	intronic	TMEM260	TMEM260	ENSG00000070269	Na	Na	Na	Na	Na	Na	Het;G>A	626;52|34	Hom;G>A	2526;0|95
N	N	-	14	57395644	57395644	C	T	snp	ncRNA_exonic	 	 	 	 	OTX2-AS1																		rs74563914	0.180911	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	OTX2-AS1	OTX2-AS1(uc001xcr.3:c.*51C>T)	ENSG00000248550	Na	Na	Na	Na	Na	Na	Het;C>T	1146;40|54	Hom;C>T	2973;0|107
N	N	-	14	57396349	57396353	GTTCT	G	indel	ncRNA_exonic	 	 	 	 	OTX2-AS1																		rs146687951	0.181709	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	OTX2-AS1	OTX2-AS1(uc001xcr.3:c.*756_*760delinsG)	ENSG00000248550	Na	Na	Na	Na	Na	Na	Het;-TTCT	2271;48|59	Hom;-TTCT	3679;0|83
N	N	-	14	57397484	57397484	T	C	snp	ncRNA_exonic	 	 	 	 	OTX2-AS1																		rs709976	0.602835	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	OTX2-AS1	OTX2-AS1(uc001xcr.3:c.*1891T>C)	ENSG00000248550	Na	Na	Na	Na	Na	Na	Het;T>C	1117;79|59	Hom;T>C	4020;0|156
N	N	-	14	58349815	58349815	C	T	snp	intergenic	 	 	 	 	SLC35F4	Slc35f4	ENSG00000151812	solute carrier family 35 member F4	chr14:58030640-58448912		Cholesterol, HDL; Glucose; Waist Circumference; Hip; Erythrocytes; Maximal Midexpiratory Flow Rate; Attention Deficit Disorder with Hyperactivity; HIV-1; Leukocyte Count; Triglycerides; Bipolar Disorder; Albuminuria	 		GO:0006810;transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SLC35F4	https://www.uniprot.org/uniprot/A4IF30			http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F4&submit=Quick%0D%9475ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F4	rs79222381	0.0640974	0	0	1	0	0	intergenic	intergenic	intergenic	SLC35F4(dist=17223),C14orf37(dist=120993)	SLC35F4(dist=17223),C14orf37(dist=120993)	ENSG00000151812(dist=17035),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	47;4|4	Hom;C>T	196;0|7
N	N	-	14	58563694	58563694	G	C	snp	nonsynonymous SNV	C1837G	Q613E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	C14orf37	3632451O06Rik	ENSG00000139971	chromosome 14 open reading frame 37	chr14:58466453-58764857		smoking cessation; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C14orf37	https://www.uniprot.org/uniprot/Q86TY3			http://www.informatics.jax.org/searchtool/Search.do?query=C14orf37&submit=Quick%0D%7960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf37	rs2273442	0.488818	0.5445	0.4876	0.23	3	13	exonic	exonic	exonic	C14orf37	C14orf37	ENSG00000139971	nonsynonymous SNV	nonsynonymous SNV	unknown	C14orf37:NM_001001872:exon5:c.C1837G:p.Q613E,	C14orf37:uc001xdd.3:exon4:c.C1837G:p.Q613E,C14orf37:uc001xdc.3:exon5:c.C1837G:p.Q613E,C14orf37:uc010tro.2:exon6:c.C1951G:p.Q651E,	UNKNOWN	Het;G>C	1120;34|47	Hom;G>C	2210;0|77
N	N	-	14	58732748	58732748	G	A	snp	ncRNA_exonic	 	 	 	 	PSMA3-AS1																		rs12892257	0.491014	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PSMA3-AS1	FLJ31306	ENSG00000257621	Na	Na	Na	Na	Na	Na	Het;G>A	1437;71|67	Hom;G>A	4030;0|139
N	N	-	14	58838668	58838668	A	G	snp	synonymous SNV	A3735G	S1245S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ARID4A	Arid4a	ENSG00000032219	AT-rich interaction domain 4A	chr14:58765103-58840605	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit altered DNA methylation patterns, disrupted hematopoiesis and a portion develop acute myeloid leukemia.	HDACs deacetylate histones	GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;IEA|GO:0016575;histone deacetylation;IEA|GO:0034773;histone H4-K20 trimethylation;IEA|GO:0036124;histone H3-K9 trimethylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048821;erythrocyte development;IEA|GO:0080182;histone H3-K4 trimethylation;IEA|GO:0097368;establishment of Sertoli cell barrier;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0004407;histone deacetylase activity;TAS|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ARID4A	https://www.uniprot.org/uniprot/P29374		https://www.ncbi.nlm.nih.gov/omim/?term=180201	http://www.informatics.jax.org/searchtool/Search.do?query=ARID4A&submit=Quick%0D%746ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARID4A	rs1051860	0.539137	0.5303	0.5777	1	0	0	exonic	exonic	exonic	ARID4A	ARID4A	ENSG00000032219	synonymous SNV	synonymous SNV	unknown	ARID4A:NM_023001:exon23:c.A3528G:p.S1176S,ARID4A:NM_023000:exon24:c.A3573G:p.S1191S,ARID4A:NM_002892:exon24:c.A3735G:p.S1245S,	ARID4A:uc001xdp.3:exon24:c.A3735G:p.S1245S,ARID4A:uc001xdq.3:exon23:c.A3528G:p.S1176S,ARID4A:uc001xdo.3:exon24:c.A3573G:p.S1191S,	UNKNOWN	Het;A>G	655;34|29	Hom;A>G	1015;2|41
N	N	-	14	58838701	58838701	C	T	snp	synonymous SNV	C3768T	C1256C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	ARID4A	Arid4a	ENSG00000032219	AT-rich interaction domain 4A	chr14:58765103-58840605	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit altered DNA methylation patterns, disrupted hematopoiesis and a portion develop acute myeloid leukemia.	HDACs deacetylate histones	GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;IEA|GO:0016575;histone deacetylation;IEA|GO:0034773;histone H4-K20 trimethylation;IEA|GO:0036124;histone H3-K9 trimethylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048821;erythrocyte development;IEA|GO:0080182;histone H3-K4 trimethylation;IEA|GO:0097368;establishment of Sertoli cell barrier;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0004407;histone deacetylase activity;TAS|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ARID4A	https://www.uniprot.org/uniprot/P29374		https://www.ncbi.nlm.nih.gov/omim/?term=180201	http://www.informatics.jax.org/searchtool/Search.do?query=ARID4A&submit=Quick%0D%746ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARID4A	rs1051861	0.531949	0.5220	0.5737	1	0	0	exonic	exonic	exonic	ARID4A	ARID4A	ENSG00000032219	synonymous SNV	synonymous SNV	unknown	ARID4A:NM_023001:exon23:c.C3561T:p.C1187C,ARID4A:NM_023000:exon24:c.C3606T:p.C1202C,ARID4A:NM_002892:exon24:c.C3768T:p.C1256C,	ARID4A:uc001xdp.3:exon24:c.C3768T:p.C1256C,ARID4A:uc001xdq.3:exon23:c.C3561T:p.C1187C,ARID4A:uc001xdo.3:exon24:c.C3606T:p.C1202C,	UNKNOWN	Het;C>T	427;31|23	Hom;C>T	936;2|37
N	N	-	14	58893791	58893791	T	G	snp	ncRNA_exonic	 	 	 	 	AL139021.1																		rs6764	0.816893	0	0	1	0	0	UTR5	UTR5	ncRNA_exonic	TIMM9(NM_001304491:c.-15128A>C,NM_001304486:c.-15128A>C,NM_001304488:c.-15128A>C,NM_001304489:c.-15128A>C,NM_001304490:c.-15128A>C,NM_012460:c.-15128A>C)	TIMM9(uc010aph.3:c.-15128A>C,uc001xds.3:c.-15128A>C)	ENSG00000258378	Na	Na	Na	Na	Na	Na	Het;T>G	383;13|16	Hom;T>G	657;0|21
N	N	-	14	58893813	58893813	G	C	snp	ncRNA_exonic	 	 	 	 	AL139021.1																		rs6763	0.817492	0	0	1	0	0	UTR5	UTR5	ncRNA_exonic	TIMM9(NM_001304491:c.-15150C>G,NM_001304486:c.-15150C>G,NM_001304488:c.-15150C>G,NM_001304489:c.-15150C>G,NM_001304490:c.-15150C>G,NM_012460:c.-15150C>G)	TIMM9(uc010aph.3:c.-15150C>G,uc001xds.3:c.-15150C>G)	ENSG00000258378	Na	Na	Na	Na	Na	Na	Het;G>C	413;17|20	Hom;G>C	1050;0|38
N	N	-	14	59071574	59071574	A	G	snp	intergenic	 	 	 	 	AL135752.1																		rs10145711	0.745607	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA0586(dist=56025),NONE(dist=NONE)	KIAA0586(dist=56025),DACT1(dist=29212)	ENSG00000239510(dist=40240),ENSG00000165617(dist=29212)	Na	Na	Na	Na	Na	Na	Het;A>G	425;15|19	Hom;A>G	1080;0|35
N	N	-	14	59105188	59105188	C	T	snp	synonymous SNV	C268T	L90L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DACT1	Dact1	ENSG00000165617	dishevelled binding antagonist of beta catenin 1	chr14:59100685-59115039	The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]	colorectal cancer; Leukocyte Count; Waist Circumference; ADHD | attention-deficit hyperactivity disorder	Mice homozygous for a knock-out allele exhibit neonatal lethality, abnormal embryogenesis, blind-ended colons, and abnormal renal/urinary system.	Degradation of DVL	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IMP|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030178;negative regulation of Wnt signaling pathway;IGI|GO:0031647;regulation of protein stability;IDA|GO:0032091;negative regulation of protein binding;IGI|GO:0032092;positive regulation of protein binding;IGI|GO:0035412;regulation of catenin import into nucleus;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046329;negative regulation of JNK cascade;IDA|GO:0048619;embryonic hindgut morphogenesis;ISS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:1903364;positive regulation of cellular protein catabolic process;IDA|GO:1904864;negative regulation of beta-catenin-TCF complex assembly;IDA|GO:2000095;regulation of Wnt signaling pathway, planar cell polarity pathway;IBA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0045202;synapse;IEA	GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0005080;protein kinase C binding;IBA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0051018;protein kinase A binding;IDA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT1		https://hpo.jax.org/app/browse/search?q=DACT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607861	http://www.informatics.jax.org/searchtool/Search.do?query=DACT1&submit=Quick%0D%11579ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT1	rs2003021	0.560703	0.5818	0.5670	1	0	0	exonic	exonic	exonic	DACT1	DACT1	ENSG00000165617	synonymous SNV	synonymous SNV	unknown	DACT1:NM_001079520:exon1:c.C268T:p.L90L,DACT1:NM_016651:exon1:c.C268T:p.L90L,	DACT1:uc001xdw.3:exon1:c.C268T:p.L90L,DACT1:uc001xdx.3:exon1:c.C268T:p.L90L,	UNKNOWN	Het;C>T	261;7|14	Hom;C>T	540;0|25
N	N	-	14	59939727	59939727	T	C	snp	nonsynonymous SNV	A1021G	I341V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	L3HYPDH	L3hypdh	ENSG00000126790	trans-L-3-hydroxyproline dehydratase	chr14:59927081-59951148	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder	 		GO:0008152;metabolic process;IDA		GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH	https://www.uniprot.org/uniprot/Q96EM0		https://www.ncbi.nlm.nih.gov/omim/?term=614811	http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH	rs8660	0.518371	0.5608	0.4687	0.08	1	13	exonic	exonic	exonic	L3HYPDH	L3HYPDH	ENSG00000126790	nonsynonymous SNV	nonsynonymous SNV	unknown	L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V,	L3HYPDH:uc001xee.1:exon5:c.A1021G:p.I341V,	UNKNOWN	Het;T>C	837;51|38	Hom;T>C	3044;0|104
N	N	-	14	59941143	59941143	A	G	snp	intronic	 	 	 	 	L3HYPDH	L3hypdh	ENSG00000126790	trans-L-3-hydroxyproline dehydratase	chr14:59927081-59951148	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder	 		GO:0008152;metabolic process;IDA		GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH	https://www.uniprot.org/uniprot/Q96EM0		https://www.ncbi.nlm.nih.gov/omim/?term=614811	http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH	rs8013894	0.421126	0	0	1	0	0	intronic	intronic	intronic	L3HYPDH	L3HYPDH	ENSG00000126790	Na	Na	Na	Na	Na	Na	Het;A>G	1097;98|57	Hom;A>G	3540;3|131
N	N	-	14	59941578	59941578	A	G	snp	intronic	 	 	 	 	L3HYPDH	L3hypdh	ENSG00000126790	trans-L-3-hydroxyproline dehydratase	chr14:59927081-59951148	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder	 		GO:0008152;metabolic process;IDA		GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH	https://www.uniprot.org/uniprot/Q96EM0		https://www.ncbi.nlm.nih.gov/omim/?term=614811	http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH	rs1271741	0.476238	0	0	1	0	0	intronic	intronic	intronic	L3HYPDH	L3HYPDH	ENSG00000126790	Na	Na	Na	Na	Na	Na	Het;A>G	1120;80|54	Hom;A>G	3583;2|123
N	N	-	14	59942365	59942365	C	T	snp	intronic	 	 	 	 	L3HYPDH	L3hypdh	ENSG00000126790	trans-L-3-hydroxyproline dehydratase	chr14:59927081-59951148	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder	 		GO:0008152;metabolic process;IDA		GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH	https://www.uniprot.org/uniprot/Q96EM0		https://www.ncbi.nlm.nih.gov/omim/?term=614811	http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH	rs1272909	0.477436	0	0	1	0	0	intronic	intronic	intronic	L3HYPDH	L3HYPDH	ENSG00000126790	Na	Na	Na	Na	Na	Na	Het;C>T	622;37|31	Hom;C>T	2564;0|96
N	N	-	14	59942953	59942953	T	TCAAC	indel	intronic	 	 	 	 	L3HYPDH	L3hypdh	ENSG00000126790	trans-L-3-hydroxyproline dehydratase	chr14:59927081-59951148	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder	 		GO:0008152;metabolic process;IDA		GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH	https://www.uniprot.org/uniprot/Q96EM0		https://www.ncbi.nlm.nih.gov/omim/?term=614811	http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH	rs10634233	0.532947	0.5716	0.4767	1	0	0	intronic	intronic	intronic	L3HYPDH	L3HYPDH	ENSG00000126790	Na	Na	Na	Na	Na	Na	Het;+CAAC	1022;20|29	Hom;+CAAC	2319;0|52
N	N	-	14	59946099	59946099	T	C	snp	ncRNA_intronic	 	 	 	 	AL121694.1																		rs1752436	0.516174	0.5574	0.4695	1	0	0	intronic	intronic	ncRNA_intronic	L3HYPDH	L3HYPDH	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;T>C	1088;40|48	Hom;T>C	2363;0|85
N	N	-	14	59950417	59950417	T	G	snp	nonsynonymous SNV	A618C	K206N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	L3HYPDH	L3hypdh	ENSG00000126790	trans-L-3-hydroxyproline dehydratase	chr14:59927081-59951148	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder	 		GO:0008152;metabolic process;IDA		GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH	https://www.uniprot.org/uniprot/Q96EM0		https://www.ncbi.nlm.nih.gov/omim/?term=614811	http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH	rs1268584	0.490415	0	0.5794	1	0	0	intronic	exonic	ncRNA_intronic	L3HYPDH	L3HYPDH	ENSG00000258782	Na	nonsynonymous SNV	Na	Na	L3HYPDH:uc010trx.1:exon1:c.A618C:p.K206N,	Na	Het;T>G	436;33|22	Hom;T>G	1239;0|44
N	N	-	14	59950690	59950690	A	C	snp	synonymous SNV	T345G	A115A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	L3HYPDH	L3hypdh	ENSG00000126790	trans-L-3-hydroxyproline dehydratase	chr14:59927081-59951148	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder	 		GO:0008152;metabolic process;IDA		GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH	https://www.uniprot.org/uniprot/Q96EM0		https://www.ncbi.nlm.nih.gov/omim/?term=614811	http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH	rs2296842	0.265176	0.2151	0.3774	1	0	0	exonic	exonic	exonic	L3HYPDH	L3HYPDH	ENSG00000126790	synonymous SNV	synonymous SNV	unknown	L3HYPDH:NM_144581:exon1:c.T345G:p.A115A,	L3HYPDH:uc001xee.1:exon1:c.T345G:p.A115A,L3HYPDH:uc010trx.1:exon1:c.T345G:p.A115A,	UNKNOWN	Het;A>C	622;65|34	Hom;A>C	1987;0|71
N	N	-	14	59951278	59951278	T	C	snp	UTR5	-30T>C	 	 	 	JKAMP	Jkamp	ENSG00000050130	JNK1/MAPK8-associated membrane protein	chr14:59951161-59972128		Echocardiography; Tobacco Use Disorder	 		GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/JKAMP	https://www.uniprot.org/uniprot/Q9P055		https://www.ncbi.nlm.nih.gov/omim/?term=611176	http://www.informatics.jax.org/searchtool/Search.do?query=JKAMP&submit=Quick%0D%921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JKAMP	rs10140007	0.410743	0.3814	0.3856	1	0	0	UTR5	UTR5	ncRNA_intronic	JKAMP(NM_001098625:c.-30T>C,NM_001284203:c.-3207T>C,NM_001284202:c.-511T>C,NM_016475:c.-30T>C,NM_001284204:c.-30T>C,NM_001284201:c.-511T>C)	JKAMP(uc001xef.4:c.-30T>C,uc001xeh.4:c.-30T>C,uc001xeg.4:c.-511T>C,uc010try.2:c.-3207T>C)	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;T>C	213;12|9	Hom;T>C	647;0|23
N	N	-	14	59951982	59951982	C	A	snp	ncRNA_intronic	 	 	 	 	AL121694.1																		rs1253105	0.46266	0	0	1	0	0	intronic	intronic	ncRNA_intronic	JKAMP	JKAMP	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;C>A	86;3|4	Hom;C>A	179;0|6
N	N	-	14	59953379	59953379	A	T	snp	ncRNA_intronic	 	 	 	 	AL121694.1																		rs1253109	0.462859	0.4676	0	1	0	0	intronic	intronic	ncRNA_intronic	JKAMP	JKAMP	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;A>T	978;33|45	Hom;A>T	1824;0|63
N	N	-	14	59961971	59961972	TG	T	indel	ncRNA_intronic	 	 	 	 	AL121694.1																		rs35919683	0.358227	0	0.3518	1	0	0	intronic	intronic	ncRNA_intronic	JKAMP	JKAMP	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;-G	351;24|19	Hom;-G	786;4|34
N	N	-	14	59965429	59965429	T	C	snp	ncRNA_intronic	 	 	 	 	AL121694.1																		rs1271507	0.452676	0.4438	0.4952	1	0	0	intronic	intronic	ncRNA_intronic	JKAMP	JKAMP	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;T>C	728;24|30	Hom;T>C	2118;0|72
N	N	-	14	59965705	59965705	A	C	snp	ncRNA_intronic	 	 	 	 	AL121694.1																		rs1271508	0.473842	0	0	1	0	0	intronic	intronic	ncRNA_intronic	JKAMP	JKAMP	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;A>C	427;22|18	Hom;A>C	1432;2|50
N	N	-	14	59977606	59977607	CA	C	indel	ncRNA_intronic	 	 	 	 	AL121694.1																		rs11305995	0.430711	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CCDC175	CCDC175	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;-A	354;17|21	Hom;-A	1527;0|60
N	N	-	14	59977658	59977658	T	A	snp	ncRNA_intronic	 	 	 	 	AL121694.1																		rs4901933	0.44988	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CCDC175	CCDC175	ENSG00000258782	Na	Na	Na	Na	Na	Na	Het;T>A	181;7|7	Hom;T>A	699;0|23
N	N	-	14	59988324	59988324	C	T	snp	nonsynonymous SNV	G2066A	S689N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs12887189	0.277556	0.2464	0.2960	0.09	1	11	exonic	exonic	exonic	CCDC175	CCDC175	ENSG00000151838	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC175:NM_001164399:exon17:c.G2066A:p.S689N,	CCDC175:uc021rtw.1:exon17:c.G2066A:p.S689N,	UNKNOWN	Het;C>T	704;70|41	Hom;C>T	2966;2|119
N	N	-	14	59992258	59992258	G	T	snp	intronic	 	 	 	 	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs1956366	0.405751	0	0	1	0	0	intronic	intronic	intronic	CCDC175	CCDC175	ENSG00000151838	Na	Na	Na	Na	Na	Na	Het;G>T	518;22|24	Hom;G>T	1730;0|64
N	N	-	14	59992284	59992284	C	T	snp	intronic	 	 	 	 	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs1956365	0.449681	0	0	1	0	0	intronic	intronic	intronic	CCDC175	CCDC175	ENSG00000151838	Na	Na	Na	Na	Na	Na	Het;C>T	280;16|11	Hom;C>T	1222;0|42
N	N	-	14	60039374	60039374	G	A	snp	intronic	 	 	 	 	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs12886261	0.339657	0	0.3315	1	0	0	intronic	intronic	intronic	CCDC175	CCDC175	ENSG00000151838	Na	Na	Na	Na	Na	Na	Het;G>A	287;17|13	Hom;G>A	960;0|31
N	N	-	14	60041749	60041749	G	GA	indel	intronic	 	 	 	 	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs35273647	0.342652	0.3236	0.3375	1	0	0	intronic	intronic	intronic	CCDC175	CCDC175	ENSG00000151838	Na	Na	Na	Na	Na	Na	Het;+A	471;33|27	Hom;+A	905;3|35
N	N	-	14	60043323	60043323	G	A	snp	intronic	 	 	 	 	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs6573272	0.290935	0.2770	0.3866	1	0	0	intronic	intronic	intronic	CCDC175	CCDC175	ENSG00000151838	Na	Na	Na	Na	Na	Na	Het;G>A	181;27|12	Hom;G>A	866;0|34
N	N	-	14	60043572	60043572	G	C	snp	upstream	 	 	 	 	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs7141565	0.303914	0	0	1	0	0	upstream	upstream	upstream	CCDC175	CCDC175	ENSG00000151838	Na	Na	Na	Na	Na	Na	Het;G>C	405;19|17	Hom;G>C	795;0|23
N	N	-	14	60073935	60073935	A	G	snp	intronic	 	 	 	 	RTN1	Rtn1	ENSG00000139970	reticulon 1	chr14:60062694-60337684	This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]	Tobacco Use Disorder; Alzheimer Disease	Mice homozygous for a null allele are viable with no gross abnormalities.			GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RTN1	https://www.uniprot.org/uniprot/Q16799		https://www.ncbi.nlm.nih.gov/omim/?term=600865	http://www.informatics.jax.org/searchtool/Search.do?query=RTN1&submit=Quick%0D%7959ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTN1	rs1956372	0.310304	0	0	1	0	0	intronic	intronic	intronic	RTN1	RTN1	ENSG00000139970	Na	Na	Na	Na	Na	Na	Het;A>G	43;1|2	Hom;A>G	209;0|7
N	N	-	14	60484931	60484931	C	T	snp	ncRNA_intronic	 	 	 	 	LRRC9	Lrrc9	ENSG00000131951	leucine rich repeat containing 9	chr14:60386431-60530277		Respiratory Function Tests	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRC9	https://www.uniprot.org/uniprot/Q6ZRR7			http://www.informatics.jax.org/searchtool/Search.do?query=LRRC9&submit=Quick%0D%6608ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC9	rs219391	0.650958	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC9	LRRC9	ENSG00000258553	Na	Na	Na	Na	Na	Na	Het;C>T	114;1|5	Hom;C>T	117;0|4
N	N	-	14	60498876	60498876	C	T	snp	ncRNA_intronic	 	 	 	 	LRRC9	Lrrc9	ENSG00000131951	leucine rich repeat containing 9	chr14:60386431-60530277		Respiratory Function Tests	 					http://www.genecards.org/index.php?path=/Search/keyword/LRRC9	https://www.uniprot.org/uniprot/Q6ZRR7			http://www.informatics.jax.org/searchtool/Search.do?query=LRRC9&submit=Quick%0D%6608ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC9	rs219409	0.801318	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC9	LRRC9	ENSG00000258553	Na	Na	Na	Na	Na	Na	Het;C>T	72;1|3	Hom;C>T	203;0|6
N	N	-	14	61438594	61438596	GGA	G	indel	UTR3	*3233_*3231delinsC	 	 	 	TRMT5	Trmt5	ENSG00000126814	tRNA methyltransferase 5	chr14:61438169-61448076	tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease; Body Mass Index	 	Synthesis of wybutosine at G37 of tRNA(Phe)	GO:0008033;tRNA processing;IEA|GO:0030488;tRNA methylation;IEA|GO:0032259;methylation;IEA|GO:0070901;mitochondrial tRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IDA	GO:0008168;methyltransferase activity;IEA|GO:0009019;tRNA (guanine-N1-)-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0052906;tRNA (guanine(37)-N(1))-methyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT5	https://www.uniprot.org/uniprot/Q32P41	https://hpo.jax.org/app/browse/search?q=TRMT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611023	http://www.informatics.jax.org/searchtool/Search.do?query=TRMT5&submit=Quick%0D%5978ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT5	rs35517412	0.597244	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	TRMT5(NM_020810:c.*3233_*3231delinsC)	TRMT5(uc001xff.4:c.*3233_*3231delinsC)	ENSG00000258892	Na	Na	Na	Na	Na	Na	Het;-GA	167;2|5	Hom;-GA	188;0|5
N	N	-	14	61448510	61448510	A	G	snp	ncRNA_intronic	 	 	 	 	AL160236.2																		rs2296924	0.834265	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SLC38A6	SLC38A6	ENSG00000258892	Na	Na	Na	Na	Na	Na	Het;A>G	102;7|5	Hom;A>G	372;0|10
N	N	-	14	61449167	61449167	T	C	snp	ncRNA_intronic	 	 	 	 	AL160236.2																		rs2296923	0.84365	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SLC38A6	SLC38A6	ENSG00000258892	Na	Na	Na	Na	Na	Na	Het;T>C	602;17|24	Hom;T>C	1201;0|42
N	N	-	14	61449328	61449328	T	A	snp	nonsynonymous SNV	T208A	L70M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SLC38A6	Slc38a6	ENSG00000139974	solute carrier family 38 member 6	chr14:61447832-61550451		Respiratory Function Tests; Body Height; Body Mass Index; Coronary Artery Disease	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A6	https://www.uniprot.org/uniprot/Q8IZM9		https://www.ncbi.nlm.nih.gov/omim/?term=616518	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A6&submit=Quick%0D%7962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A6	rs976272	0.84365	0.9462	0.9185	0.15	2	13	exonic	exonic	exonic	SLC38A6	SLC38A6	ENSG00000139974	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC38A6:NM_153811:exon2:c.T208A:p.L70M,SLC38A6:NM_001172702:exon2:c.T208A:p.L70M,	SLC38A6:uc001xfh.2:exon2:c.T208A:p.L70M,SLC38A6:uc010trz.2:exon2:c.T139A:p.L47M,SLC38A6:uc001xfg.2:exon2:c.T208A:p.L70M,	UNKNOWN	Het;T>A	1262;79|65	Hom;T>A	3315;0|128
N	N	-	14	61451589	61451589	C	T	snp	intronic	 	 	 	 	SLC38A6	Slc38a6	ENSG00000139974	solute carrier family 38 member 6	chr14:61447832-61550451		Respiratory Function Tests; Body Height; Body Mass Index; Coronary Artery Disease	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A6	https://www.uniprot.org/uniprot/Q8IZM9		https://www.ncbi.nlm.nih.gov/omim/?term=616518	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A6&submit=Quick%0D%7962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A6	rs2149303	0.841853	0	0	1	0	0	intronic	intronic	intronic	SLC38A6	SLC38A6	ENSG00000139974	Na	Na	Na	Na	Na	Na	Het;C>T	79;2|4	Hom;C>T	261;0|9
N	N	-	14	61509924	61509924	T	C	snp	synonymous SNV	T684C	G228G	aliphatic,neutral	aliphatic,neutral	SLC38A6	Slc38a6	ENSG00000139974	solute carrier family 38 member 6	chr14:61447832-61550451		Respiratory Function Tests; Body Height; Body Mass Index; Coronary Artery Disease	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A6	https://www.uniprot.org/uniprot/Q8IZM9		https://www.ncbi.nlm.nih.gov/omim/?term=616518	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A6&submit=Quick%0D%7962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A6	rs2296921	0.842851	0.9461	0.9187	1	0	0	exonic	exonic	exonic	SLC38A6	SLC38A6	ENSG00000139974	synonymous SNV	synonymous SNV	unknown	SLC38A6:NM_153811:exon9:c.T684C:p.G228G,SLC38A6:NM_001172702:exon9:c.T684C:p.G228G,	SLC38A6:uc001xfh.2:exon9:c.T684C:p.G228G,SLC38A6:uc010trz.2:exon9:c.T615C:p.G205G,SLC38A6:uc001xfg.2:exon9:c.T684C:p.G228G,	UNKNOWN	Het;T>C	218;14|12	Hom;T>C	994;0|34
N	N	-	14	61747644	61747644	A	G	snp	synonymous SNV	T222C	G74G	aliphatic,neutral	aliphatic,neutral	TMEM30B	Tmem30b	ENSG00000182107	transmembrane protein 30B	chr14:61744088-61748558			 		GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0070863;positive regulation of protein exit from endoplasmic reticulum;IDA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM30B			https://www.ncbi.nlm.nih.gov/omim/?term=611029	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM30B&submit=Quick%0D%14718ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM30B	rs3196765	0.779752	0.8145	0.8496	1	0	0	exonic	exonic	exonic	TMEM30B	TMEM30B	ENSG00000182107	synonymous SNV	synonymous SNV	unknown	TMEM30B:NM_001017970:exon1:c.T222C:p.G74G,	TMEM30B:uc001xfl.3:exon1:c.T222C:p.G74G,	UNKNOWN	Het;A>G	692;46|30	Hom;A>G	2050;0|72
N	N	-	14	62023264	62023264	A	C	snp	ncRNA_exonic	 	 	 	 	LOC101927780																		rs2251244	0.457268	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927780	PRKCH(dist=5566),BX648502(dist=4516)	ENSG00000250548	Na	Na	Na	Na	Na	Na	Het;A>C	748;26|33	Hom;A>C	2158;0|76
N	N	-	14	62229138	62229138	A	AGAGGCGTGCGGGCTTCG	indel	UTR5	-41A>AGAGGCGTGCGGGCTTCG	 	 	 	SNAPC1	Snapc1	ENSG00000023608	small nuclear RNA activating complex polypeptide 1	chr14:62229075-62263146			 	RNA Polymerase III Transcription Initiation From Type 3 Promoter	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0042796;snRNA transcription from RNA polymerase III promoter;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0019185;snRNA-activating protein complex;IBA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SNAPC1	https://www.uniprot.org/uniprot/Q16533		https://www.ncbi.nlm.nih.gov/omim/?term=600591	http://www.informatics.jax.org/searchtool/Search.do?query=SNAPC1&submit=Quick%0D%686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAPC1	rs138759765	0	0.1868	0.0599	1	0	0	UTR5	UTR5	ncRNA_intronic	SNAPC1(NM_003082:c.-41A>AGAGGCGTGCGGGCTTCG)	SNAPC1(uc001xft.3:c.-41A>AGAGGCGTGCGGGCTTCG)	ENSG00000258964	Na	Na	Na	Na	Na	Na	Het;+GAGGCGTGCGGGCTTCG	280;6|8	Hom;+GAGGCGTGCGGGCTTCG	211;0|6
N	N	-	14	62234159	62234159	A	G	snp	ncRNA_intronic	 	 	 	 	AL137129.1																		rs10145554	0.39996	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SNAPC1	SNAPC1	ENSG00000258964	Na	Na	Na	Na	Na	Na	Het;A>G	568;24|24	Hom;A>G	1987;0|65
N	N	-	14	62235250	62235252	CTG	C	indel	ncRNA_intronic	 	 	 	 	AL137129.1																		rs147257744	0.0617013	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SNAPC1	SNAPC1	ENSG00000258964	Na	Na	Na	Na	Na	Na	Het;-TG	275;6|8	Hom;-TG	185;0|5
N	N	-	14	62299005	62299005	A	C	snp	ncRNA_exonic	 	 	 	 	COX4I1P1																		rs17099248	0.133986	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SNAPC1(dist=35859),SYT16(dist=163536)	SNAPC1(dist=35859),SYT16(dist=154798)	ENSG00000258956	Na	Na	Na	Na	Na	Na	Het;A>C	458;13|20	Hom;A>C	766;2|30
N	N	-	14	62299016	62299016	G	A	snp	ncRNA_exonic	 	 	 	 	COX4I1P1																		rs72716755	0.0539137	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SNAPC1(dist=35870),SYT16(dist=163525)	SNAPC1(dist=35870),SYT16(dist=154787)	ENSG00000258956	Na	Na	Na	Na	Na	Na	Het;G>A	437;16|22	Hom;G>A	818;2|35
N	N	-	14	62331776	62331776	C	T	snp	ncRNA_exonic	 	 	 	 	ENSG00000258882																		rs61732333	0.0457268	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SNAPC1(dist=68630),SYT16(dist=130765)	SNAPC1(dist=68630),SYT16(dist=122027)	ENSG00000258882	Na	Na	Na	Na	Na	Na	Het;C>T	315;30|16	Hom;C>T	824;0|32
N	N	-	14	62598048	62598048	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00643																		rs79713796	0.208666	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LINC00643	LINC00643	ENSG00000186369(dist=1696),ENSG00000259142(dist=2819)	Na	Na	Na	Na	Na	Na	Het;A>G	343;29|15	Hom;A>G	1664;0|52
N	N	-	14	62598141	62598141	G	T	snp	ncRNA_exonic	 	 	 	 	LINC00643																		rs79898448	0.207668	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LINC00643	LINC00643	ENSG00000186369(dist=1789),ENSG00000259142(dist=2726)	Na	Na	Na	Na	Na	Na	Het;G>T	916;46|42	Hom;G>T	4090;5|156
N	N	-	14	63605812	63605812	T	A	snp	intergenic	 	 	 	 	AL137191.1																		rs4605079	0.506789	0	0	1	0	0	intergenic	intergenic	intergenic	KCNH5(dist=93856),RHOJ(dist=65290)	KCNH5(dist=37228),RHOJ(dist=65290)	ENSG00000259093(dist=10880),ENSG00000126785(dist=65020)	Na	Na	Na	Na	Na	Na	Het;T>A	101;4|5	Hom;T>A	209;0|6
N	N	-	14	66510950	66510950	G	A	snp	intergenic	 	 	 	 	YBX1P1																		rs77108860	0.0175719	0	0	1	0	0	intergenic	intergenic	intergenic	FUT8(dist=300111),LINC00238(dist=442139)	FUT8(dist=300111),Y_RNA(dist=133295)	ENSG00000224861(dist=30443),ENSG00000258502(dist=67349)	Na	Na	Na	Na	Na	Na	Het;G>A	38;3|3	Hom;G>A	284;0|12
N	N	-	14	66518438	66518438	T	TAGATAGAC	indel	intergenic	 	 	 	 	YBX1P1																		rs571667836	0.0646965	0	0	1	0	0	intergenic	intergenic	intergenic	FUT8(dist=307599),LINC00238(dist=434651)	FUT8(dist=307599),Y_RNA(dist=125807)	ENSG00000224861(dist=37931),ENSG00000258502(dist=59861)	Na	Na	Na	Na	Na	Na	Het;+AGATAGAC	242;5|7	Hom;+AGATAGAC	955;0|23
N	N	-	14	67819567	67819568	CA	C	indel	intronic	 	 	 	 	ATP6V1D	Atp6v1d	ENSG00000100554	ATPase H+ transporting V1 subunit D	chr14:67761088-67826982	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 	Ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0030030;cell projection organization;IEA|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:0090383;phagosome acidification;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IDA|GO:0016020;membrane;IDA|GO:0033176;proton-transporting V-type ATPase complex;IDA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP6V1D	https://www.uniprot.org/uniprot/Q9Y5K8		https://www.ncbi.nlm.nih.gov/omim/?term=609398	http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V1D&submit=Quick%0D%2548ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V1D	rs10718799	0	0	0	1	0	0	intronic	intronic	intronic	ATP6V1D	ATP6V1D	ENSG00000100554	Na	Na	Na	Na	Na	Na	Het;-A	508;7|29	Hom;-A	744;1|35
N	N	-	14	68038729	68038729	A	G	snp	intronic	 	 	 	 	PLEKHH1	Plekhh1	ENSG00000054690	pleckstrin homology, MyTH4 and FERM domain containing H1	chr14:68000018-68056329			 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1	https://www.uniprot.org/uniprot/Q9ULM0			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1	rs2236233	0.766174	0	0	1	0	0	intronic	intronic	intronic	PLEKHH1	PLEKHH1	ENSG00000054690	Na	Na	Na	Na	Na	Na	Het;A>G	713;19|27	Hom;A>G	1480;0|50
N	N	-	14	68038779	68038779	T	G	snp	intronic	 	 	 	 	PLEKHH1	Plekhh1	ENSG00000054690	pleckstrin homology, MyTH4 and FERM domain containing H1	chr14:68000018-68056329			 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1	https://www.uniprot.org/uniprot/Q9ULM0			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1	rs2236232	0.691094	0	0	1	0	0	intronic	intronic	intronic	PLEKHH1	PLEKHH1	ENSG00000054690	Na	Na	Na	Na	Na	Na	Het;T>G	548;30|21	Hom;T>G	1636;0|51
N	N	-	14	68040925	68040925	G	A	snp	intronic	 	 	 	 	PLEKHH1	Plekhh1	ENSG00000054690	pleckstrin homology, MyTH4 and FERM domain containing H1	chr14:68000018-68056329			 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1	https://www.uniprot.org/uniprot/Q9ULM0			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1	rs3742873	0.171526	0.1813	0.2138	1	0	0	intronic	intronic	intronic	PLEKHH1	PLEKHH1	ENSG00000054690	Na	Na	Na	Na	Na	Na	Het;G>A	333;36|19	Hom;G>A	1044;0|40
N	N	-	14	68045935	68045935	G	A	snp	synonymous SNV	G1638A	S546S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PLEKHH1	Plekhh1	ENSG00000054690	pleckstrin homology, MyTH4 and FERM domain containing H1	chr14:68000018-68056329			 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1	https://www.uniprot.org/uniprot/Q9ULM0			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1	rs6573781	0.646965	0.7478	0.7531	1	0	0	exonic	exonic	exonic	PLEKHH1	PLEKHH1	ENSG00000054690	synonymous SNV	synonymous SNV	unknown	PLEKHH1:NM_020715:exon21:c.G2934A:p.S978S,	PLEKHH1:uc010tsw.1:exon14:c.G1638A:p.S546S,PLEKHH1:uc001xjn.1:exon12:c.G1479A:p.S493S,PLEKHH1:uc001xjl.1:exon21:c.G2934A:p.S978S,	UNKNOWN	Het;G>A	2254;86|112	Hom;G>A	5244;0|202
N	N	-	14	68053802	68053802	T	C	snp	nonsynonymous SNV	T40C	Y14H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	PLEKHH1	Plekhh1	ENSG00000054690	pleckstrin homology, MyTH4 and FERM domain containing H1	chr14:68000018-68056329			 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1	https://www.uniprot.org/uniprot/Q9ULM0			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1	rs734028	0.555312	0.5518	0.6740	1	0	0	exonic	exonic	exonic	PLEKHH1	PLEKHH1	ENSG00000054690	synonymous SNV	nonsynonymous SNV	unknown	PLEKHH1:NM_020715:exon29:c.T3945C:p.A1315A,	PLEKHH1:uc031qpe.1:exon2:c.T40C:p.Y14H,PLEKHH1:uc010tsx.1:exon12:c.T769C:p.Y257H,	UNKNOWN	Het;T>C	1856;84|90	Hom;T>C	3813;2|140
N	N	-	14	68785077	68785077	G	A	snp	intronic	 	 	 	 	RAD51B	Rad51b	ENSG00000182185	RAD51 paralog B	chr14:68286496-69196935	The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]	Breast Neoplasms|Mammary Neoplasms; multiple sclerosis; primary tooth development ; breast cancer; Liver Cirrhosis, Biliary; Tobacco Use Disorder; Brain Neoplasms|Glioma; breast cancer ; Breast cancer; Odontogenesis; Heart Rate; Atrial Fibrillation; Platelet Count	Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background.	Factors involved in megakaryocyte development and platelet production	GO:0000707;meiotic DNA recombinase assembly;IBA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;TAS|GO:0006312;mitotic recombination;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007596;blood coagulation;TAS|GO:0010212;response to ionizing radiation;IBA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0042148;strand invasion;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033063;Rad51B-Rad51C-Rad51D-XRCC2 complex;IEA	GO:0000150;recombinase activity;IBA|GO:0000166;nucleotide binding;IEA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004520;endodeoxyribonuclease activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAD51B			https://www.ncbi.nlm.nih.gov/omim/?term=602948	http://www.informatics.jax.org/searchtool/Search.do?query=RAD51B&submit=Quick%0D%14740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD51B	rs8017304	0.494209	0	0	1	0	0	intronic	intronic	intronic	RAD51B	RAD51B	ENSG00000182185	Na	Na	Na	Na	Na	Na	Het;G>A	236;30|14	Hom;G>A	418;0|16
N	N	-	14	69697453	69697453	C	G	snp	intronic	 	 	 	 	EXD2	Exd2	ENSG00000081177	exonuclease 3'-5' domain containing 2	chr14:69658228-69709075		Parkinson Disease	 		GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0000729;DNA double-strand break processing;IDA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006302;double-strand break repair;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0008852;exodeoxyribonuclease I activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXD2	https://www.uniprot.org/uniprot/Q9NVH0		https://www.ncbi.nlm.nih.gov/omim/?term=616940	http://www.informatics.jax.org/searchtool/Search.do?query=EXD2&submit=Quick%0D%1763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXD2	rs1013762	0.317692	0	0	1	0	0	intronic	intronic	intronic	EXD2	EXD2	ENSG00000081177	Na	Na	Na	Na	Na	Na	Het;C>G	122;2|4	Hom;C>G	105;0|4
N	N	-	14	69709373	69709373	G	A	snp	UTR3	*1556G>A	 	 	 	EXD2	Exd2	ENSG00000081177	exonuclease 3'-5' domain containing 2	chr14:69658228-69709075		Parkinson Disease	 		GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0000729;DNA double-strand break processing;IDA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006302;double-strand break repair;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0008852;exodeoxyribonuclease I activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXD2	https://www.uniprot.org/uniprot/Q9NVH0		https://www.ncbi.nlm.nih.gov/omim/?term=616940	http://www.informatics.jax.org/searchtool/Search.do?query=EXD2&submit=Quick%0D%1763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXD2	rs3173	0.373602	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	EXD2(NM_018199:c.*1556G>A,NM_001193361:c.*1556G>A,NM_001193360:c.*1556G>A,NM_001193363:c.*1556G>A,NM_001193362:c.*1556G>A)	EXD2(uc001xkt.3:c.*1556G>A,uc001xky.3:c.*1556G>A,uc001xkv.3:c.*1556G>A,uc001xkw.3:c.*1556G>A,uc001xku.3:c.*1556G>A,uc001xkx.3:c.*1556G>A,uc010aqt.3:c.*1556G>A,uc010tte.2:c.*1556G>A)	ENSG00000258520	Na	Na	Na	Na	Na	Na	Het;G>A	909;56|43	Hom;G>A	2911;0|112
N	N	-	14	73428660	73428660	G	A	snp	ncRNA_exonic	 	 	 	 	AL442663.4																		rs2243596	0.47524	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	DCAF4(dist=2303),ZFYVE1(dist=7493)	DCAF4(dist=2303),TRNA_Cys(dist=1019)	ENSG00000259015	Na	Na	Na	Na	Na	Na	Het;G>A	598;22|29	Hom;G>A	1948;2|78
N	N	-	14	73958375	73958375	T	C	snp	synonymous SNV	T651C	F217F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	C14orf169	2410016O06Rik																	rs758109	0.804113	0.7905	0.7637	1	0	0	exonic	exonic	ncRNA_exonic	C14orf169	C14orf169	ENSG00000170468,ENSG00000255242	unknown	synonymous SNV	Na	UNKNOWN	C14orf169:uc001xok.1:exon2:c.T651C:p.F217F,	Na	Het;T>C	1238;70|55	Hom;T>C	4487;0|155
N	N	-	14	73961841	73961841	T	C	snp	intronic	 	 	 	 	HEATR4	Heatr4	ENSG00000187105	HEAT repeat containing 4	chr14:73945189-74025651			 					http://www.genecards.org/index.php?path=/Search/keyword/HEATR4				http://www.informatics.jax.org/searchtool/Search.do?query=HEATR4&submit=Quick%0D%15779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEATR4	rs1019056	0.816094	0	0	1	0	0	intronic	intronic	intronic	HEATR4	HEATR4	ENSG00000187105	Na	Na	Na	Na	Na	Na	Het;T>C	676;16|19	Hom;T>C	1050;0|30
N	N	-	14	73963383	73963383	T	C	snp	synonymous SNV	A2547G	K849K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	HEATR4	Heatr4	ENSG00000187105	HEAT repeat containing 4	chr14:73945189-74025651			 					http://www.genecards.org/index.php?path=/Search/keyword/HEATR4				http://www.informatics.jax.org/searchtool/Search.do?query=HEATR4&submit=Quick%0D%15779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEATR4	rs8014577	0.809704	0.7625	0.7444	1	0	0	exonic	exonic	exonic	HEATR4	HEATR4	ENSG00000187105	synonymous SNV	synonymous SNV	unknown	HEATR4:NM_203309:exon14:c.A2547G:p.K849K,HEATR4:NM_001220484:exon15:c.A2547G:p.K849K,	HEATR4:uc021rwf.2:exon14:c.A2547G:p.K849K,HEATR4:uc021rwe.1:exon15:c.A2547G:p.K849K,	UNKNOWN	Het;T>C	557;32|28	Hom;T>C	1958;0|75
N	N	-	14	73989859	73989859	C	T	snp	UTR5	-3G>A	 	 	 	HEATR4	Heatr4	ENSG00000187105	HEAT repeat containing 4	chr14:73945189-74025651			 					http://www.genecards.org/index.php?path=/Search/keyword/HEATR4				http://www.informatics.jax.org/searchtool/Search.do?query=HEATR4&submit=Quick%0D%15779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEATR4	rs1074501	0.680112	0	0.7415	1	0	0	UTR5	UTR5	ncRNA_intronic	HEATR4(NM_001220484:c.-3G>A,NM_203309:c.-3G>A)	HEATR4(uc021rwe.1:c.-3G>A,uc021rwf.2:c.-3G>A,uc010tub.1:c.-3G>A)	ENSG00000258695	Na	Na	Na	Na	Na	Na	Het;C>T	617;25|28	Hom;C>T	1320;0|48
N	N	-	14	74040341	74040341	T	C	snp	intronic	 	 	 	 	ACOT2	Acot2	ENSG00000119673	acyl-CoA thioesterase 2	chr14:74034324-74042357	This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]	Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Mitochondrial Fatty Acid Beta-Oxidation	GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006637;acyl-CoA metabolic process;TAS	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IPI|GO:0016290;palmitoyl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0102991;myristoyl-CoA hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACOT2	https://www.uniprot.org/uniprot/P49753		https://www.ncbi.nlm.nih.gov/omim/?term=609972	http://www.informatics.jax.org/searchtool/Search.do?query=ACOT2&submit=Quick%0D%5093ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT2	rs34585397	0.288139	0.2710	0.2976	1	0	0	intronic	intronic	intronic	ACOT2	ACOT1,ACOT2	ENSG00000119673	Na	Na	Na	Na	Na	Na	Het;T>C	242;38|13	Hom;T>C	2195;0|76
N	N	-	14	74058832	74058832	C	T	snp	nonsynonymous SNV	C169T	R57C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	ACOT4	Acot4	ENSG00000177465	acyl-CoA thioesterase 4	chr14:74058410-74063200			 	Beta-oxidation of very long chain fatty acids	GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006104;succinyl-CoA metabolic process;IDA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0032788;saturated monocarboxylic acid metabolic process;IDA|GO:0032789;unsaturated monocarboxylic acid metabolic process;IDA|GO:0043648;dicarboxylic acid metabolic process;IDA|GO:0043649;dicarboxylic acid catabolic process;IDA|GO:0046459;short-chain fatty acid metabolic process;IDA	GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS	GO:0004778;succinyl-CoA hydrolase activity;IDA|GO:0005102;receptor binding;IPI|GO:0016290;palmitoyl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0102991;myristoyl-CoA hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACOT4			https://www.ncbi.nlm.nih.gov/omim/?term=614314	http://www.informatics.jax.org/searchtool/Search.do?query=ACOT4&submit=Quick%0D%14029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT4	rs3742819	0.396965	0.2510	0.5631	0.31	4	13	exonic	exonic	exonic	ACOT4	ACOT4	ENSG00000177465	nonsynonymous SNV	nonsynonymous SNV	unknown	ACOT4:NM_152331:exon1:c.C169T:p.R57C,	ACOT4:uc001xoo.3:exon1:c.C169T:p.R57C,	UNKNOWN	Het;C>T	269;5|11	Hom;C>T	550;0|18
N	N	-	14	74061968	74061968	T	C	snp	synonymous SNV	T876C	I292I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ACOT4	Acot4	ENSG00000177465	acyl-CoA thioesterase 4	chr14:74058410-74063200			 	Beta-oxidation of very long chain fatty acids	GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006104;succinyl-CoA metabolic process;IDA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0032788;saturated monocarboxylic acid metabolic process;IDA|GO:0032789;unsaturated monocarboxylic acid metabolic process;IDA|GO:0043648;dicarboxylic acid metabolic process;IDA|GO:0043649;dicarboxylic acid catabolic process;IDA|GO:0046459;short-chain fatty acid metabolic process;IDA	GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS	GO:0004778;succinyl-CoA hydrolase activity;IDA|GO:0005102;receptor binding;IPI|GO:0016290;palmitoyl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0102991;myristoyl-CoA hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACOT4			https://www.ncbi.nlm.nih.gov/omim/?term=614314	http://www.informatics.jax.org/searchtool/Search.do?query=ACOT4&submit=Quick%0D%14029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT4	rs2010070	0.861821	0.7994	0.7736	1	0	0	exonic	exonic	exonic	ACOT4	ACOT4	ENSG00000177465	synonymous SNV	synonymous SNV	unknown	ACOT4:NM_152331:exon3:c.T876C:p.I292I,	ACOT4:uc001xoo.3:exon3:c.T876C:p.I292I,	UNKNOWN	Het;T>C	1989;87|86	Hom;T>C	6003;0|213
N	N	-	14	74079486	74079486	A	C	snp	intronic	 	 	 	 	ACOT6		ENSG00000205669	acyl-CoA thioesterase 6	chr14:74077649-74086592			Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities.	Beta-oxidation of very long chain fatty acids	GO:0006631;fatty acid metabolic process;IBA|GO:0006637;acyl-CoA metabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005829;cytosol;IDA	GO:0016787;hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACOT6			https://www.ncbi.nlm.nih.gov/omim/?term=614267	http://www.informatics.jax.org/searchtool/Search.do?query=ACOT6&submit=Quick%0D%17545ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT6	rs12587206	0.60643	0	0	1	0	0	intergenic	intergenic	intronic	ACOT4(dist=17016),ACOT6(dist=4062)	ACOT4(dist=17016),ACOT6(dist=4062)	ENSG00000205669	Na	Na	Na	Na	Na	Na	Het;A>C	321;16|15	Hom;A>C	504;0|18
N	N	-	14	74083846	74083846	C	T	snp	ncRNA_exonic	 	 	 	 	AC005225.2																		rs12891009	0.458466	0.3620	0.4366	1	0	0	UTR5	UTR5	ncRNA_exonic	ACOT6(NM_001037162:c.-33C>T)	ACOT6(uc001xop.3:c.-33C>T)	ENSG00000258603	Na	Na	Na	Na	Na	Na	Het;C>T	695;24|35	Hom;C>T	1375;0|53
N	N	-	14	74165101	74165101	A	T	snp	ncRNA_exonic	 	 	 	 	AC006146.1																		rs4903140	0.866613	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	DNAL1(NM_031427:c.*2456A>T,NM_001201366:c.*2456A>T)	DNAL1(uc010aru.3:c.*2456A>T,uc001xoq.4:c.*2456A>T)	ENSG00000258660	Na	Na	Na	Na	Na	Na	Het;A>T	1122;99|63	Hom;A>T	3690;0|139
N	N	-	14	74165516	74165516	A	G	snp	UTR3	*2871A>G	 	 	 	DNAL1	Dnal1	ENSG00000119661	dynein axonemal light chain 1	chr14:74111578-74170435	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	 					http://www.genecards.org/index.php?path=/Search/keyword/DNAL1	https://www.uniprot.org/uniprot/Q4LDG9	https://hpo.jax.org/app/browse/search?q=DNAL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610062	http://www.informatics.jax.org/searchtool/Search.do?query=DNAL1&submit=Quick%0D%5091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAL1	rs1860576	0.866613	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	DNAL1(NM_031427:c.*2871A>G,NM_001201366:c.*2871A>G)	DNAL1(uc010aru.3:c.*2871A>G,uc001xoq.4:c.*2871A>G)	ENSG00000258660	Na	Na	Na	Na	Na	Na	Het;A>G	329;20|16	Hom;A>G	1139;0|41
N	N	-	14	74166590	74166590	A	C	snp	UTR3	*3945A>C	 	 	 	DNAL1	Dnal1	ENSG00000119661	dynein axonemal light chain 1	chr14:74111578-74170435	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	 					http://www.genecards.org/index.php?path=/Search/keyword/DNAL1	https://www.uniprot.org/uniprot/Q4LDG9	https://hpo.jax.org/app/browse/search?q=DNAL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610062	http://www.informatics.jax.org/searchtool/Search.do?query=DNAL1&submit=Quick%0D%5091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAL1	rs17782112	0.0365415	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	DNAL1(NM_031427:c.*3945A>C,NM_001201366:c.*3945A>C)	DNAL1(uc010aru.3:c.*3945A>C,uc001xoq.4:c.*3945A>C)	ENSG00000258660	Na	Na	Na	Na	Na	Na	Het;A>C	134;14|8	Hom;A>C	541;0|19
N	N	-	14	74167061	74167062	GA	G	indel	UTR3	*4416_*4417delinsG	 	 	 	DNAL1	Dnal1	ENSG00000119661	dynein axonemal light chain 1	chr14:74111578-74170435	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	 					http://www.genecards.org/index.php?path=/Search/keyword/DNAL1	https://www.uniprot.org/uniprot/Q4LDG9	https://hpo.jax.org/app/browse/search?q=DNAL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610062	http://www.informatics.jax.org/searchtool/Search.do?query=DNAL1&submit=Quick%0D%5091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAL1	rs398025673	0.855631	0	0	1	0	0	UTR3	UTR3	UTR3	DNAL1(NM_031427:c.*4416_*4417delinsG,NM_001201366:c.*4416_*4417delinsG)	DNAL1(uc010aru.3:c.*4416_*4417delinsG,uc001xoq.4:c.*4416_*4417delinsG)	ENSG00000119661(ENST00000553645:c.*4416_*4417delinsG)	Na	Na	Na	Na	Na	Na	Het;-A	108;10|8	Hom;-A	458;0|20
N	N	-	14	74167371	74167371	C	T	snp	UTR3	*4726C>T	 	 	 	DNAL1	Dnal1	ENSG00000119661	dynein axonemal light chain 1	chr14:74111578-74170435	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	 					http://www.genecards.org/index.php?path=/Search/keyword/DNAL1	https://www.uniprot.org/uniprot/Q4LDG9	https://hpo.jax.org/app/browse/search?q=DNAL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610062	http://www.informatics.jax.org/searchtool/Search.do?query=DNAL1&submit=Quick%0D%5091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAL1	rs17782118	0.0922524	0	0	1	0	0	UTR3	UTR3	UTR3	DNAL1(NM_031427:c.*4726C>T,NM_001201366:c.*4726C>T)	DNAL1(uc010aru.3:c.*4726C>T,uc001xoq.4:c.*4726C>T)	ENSG00000119661(ENST00000553645:c.*4726C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	386;18|18	Hom;C>T	604;0|21
N	N	-	14	74168625	74168625	G	A	snp	UTR3	*5980G>A	 	 	 	DNAL1	Dnal1	ENSG00000119661	dynein axonemal light chain 1	chr14:74111578-74170435	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	 					http://www.genecards.org/index.php?path=/Search/keyword/DNAL1	https://www.uniprot.org/uniprot/Q4LDG9	https://hpo.jax.org/app/browse/search?q=DNAL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610062	http://www.informatics.jax.org/searchtool/Search.do?query=DNAL1&submit=Quick%0D%5091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAL1	rs1043732	0.866214	0	0	1	0	0	UTR3	UTR3	UTR3	DNAL1(NM_031427:c.*5980G>A,NM_001201366:c.*5980G>A)	DNAL1(uc010aru.3:c.*5980G>A,uc001xoq.4:c.*5980G>A)	ENSG00000119661(ENST00000553645:c.*5980G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	114;14|7	Hom;G>A	512;0|18
N	N	-	14	74169995	74169995	C	T	snp	UTR3	*7350C>T	 	 	 	DNAL1	Dnal1	ENSG00000119661	dynein axonemal light chain 1	chr14:74111578-74170435	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	 					http://www.genecards.org/index.php?path=/Search/keyword/DNAL1	https://www.uniprot.org/uniprot/Q4LDG9	https://hpo.jax.org/app/browse/search?q=DNAL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610062	http://www.informatics.jax.org/searchtool/Search.do?query=DNAL1&submit=Quick%0D%5091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAL1	rs7155268	0.866613	0	0	1	0	0	UTR3	UTR3	UTR3	DNAL1(NM_031427:c.*7350C>T,NM_001201366:c.*7350C>T)	DNAL1(uc010aru.3:c.*7350C>T,uc001xoq.4:c.*7350C>T)	ENSG00000119661(ENST00000553645:c.*7350C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	154;23|11	Hom;C>T	1468;0|57
N	N	-	14	74186273	74186273	G	A	snp	intronic	 	 	 	 	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs79875771	0.139177	0	0	1	0	0	intronic	intronic	intronic	ELMSAN1	ELMSAN1	ENSG00000156030	Na	Na	Na	Na	Na	Na	Het;G>A	464;23|19	Hom;G>A	1167;0|36
N	N	-	14	74192165	74192165	T	C	snp	intronic	 	 	 	 	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs10136165	0.855831	0	0	1	0	0	intronic	intronic	intronic	ELMSAN1	ELMSAN1	ENSG00000156030	Na	Na	Na	Na	Na	Na	Het;T>C	131;12|5	Hom;T>C	268;0|8
N	N	-	14	74193427	74193427	A	G	snp	intronic	 	 	 	 	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs887508	0.860024	0.8239	0.7915	1	0	0	intronic	intronic	intronic	ELMSAN1	ELMSAN1	ENSG00000156030	Na	Na	Na	Na	Na	Na	Het;A>G	1318;56|61	Hom;A>G	2807;1|107
N	N	-	14	74196686	74196686	T	C	snp	synonymous SNV	A1752G	A584A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs2075025	0.604034	0.4459	0.4627	1	0	0	exonic	exonic	exonic	ELMSAN1	ELMSAN1	ENSG00000156030	synonymous SNV	synonymous SNV	unknown	ELMSAN1:NM_194278:exon4:c.A1752G:p.A584A,ELMSAN1:NM_001043318:exon4:c.A1752G:p.A584A,	ELMSAN1:uc001xot.3:exon4:c.A1752G:p.A584A,ELMSAN1:uc010tud.1:exon3:c.A1752G:p.A584A,ELMSAN1:uc001xou.3:exon4:c.A1752G:p.A584A,	UNKNOWN	Het;T>C	1174;40|55	Hom;T>C	2511;0|93
N	N	-	14	74196792	74196792	T	C	snp	unknown	 	 	 	 	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs8019058	0.605032	0	0.5292	1	0	0	intronic	intronic	exonic	ELMSAN1	ELMSAN1	ENSG00000156030	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	67;7|3	Hom;T>C	234;0|7
N	N	-	14	74203789	74203789	G	A	snp	nonsynonymous SNV	C1661T	P554L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs17782124	0.152955	0.1500	0.1795	0.15	2	13	exonic	exonic	exonic	ELMSAN1	ELMSAN1	ENSG00000156030	nonsynonymous SNV	nonsynonymous SNV	unknown	ELMSAN1:NM_194278:exon3:c.C1661T:p.P554L,ELMSAN1:NM_001043318:exon3:c.C1661T:p.P554L,	ELMSAN1:uc001xot.3:exon3:c.C1661T:p.P554L,ELMSAN1:uc010tud.1:exon2:c.C1661T:p.P554L,ELMSAN1:uc001xou.3:exon3:c.C1661T:p.P554L,	UNKNOWN	Het;G>A	1825;104|91	Hom;G>A	4927;4|183
N	N	-	14	74205198	74205206	GCAGCCGCC	G	indel	intronic	 	 	 	 	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs375797093	0.151957	0	0	1	0	0	intronic	intronic	intronic	ELMSAN1	ELMSAN1	ENSG00000156030	Na	Na	Na	Na	Na	Na	Het;-CAGCCGCC	389;12|11	Hom;-CAGCCGCC	933;0|22
N	N	-	14	74205878	74205878	C	T	snp	synonymous SNV	G834A	P278P	hydrophobic,neutral	hydrophobic,neutral	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs17782128	0.151757	0.1492	0.1813	1	0	0	exonic	exonic	exonic	ELMSAN1	ELMSAN1	ENSG00000156030	synonymous SNV	synonymous SNV	unknown	ELMSAN1:NM_194278:exon2:c.G834A:p.P278P,ELMSAN1:NM_001043318:exon2:c.G834A:p.P278P,	ELMSAN1:uc001xot.3:exon2:c.G834A:p.P278P,ELMSAN1:uc010tud.1:exon1:c.G834A:p.P278P,ELMSAN1:uc001xou.3:exon2:c.G834A:p.P278P,	UNKNOWN	Het;C>T	1580;79|73	Hom;C>T	3142;4|119
N	N	-	14	74206481	74206481	T	C	snp	synonymous SNV	A231G	V77V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs758774	0.86242	0.8242	0.7980	1	0	0	exonic	exonic	exonic	ELMSAN1	ELMSAN1	ENSG00000156030	synonymous SNV	synonymous SNV	unknown	ELMSAN1:NM_194278:exon2:c.A231G:p.V77V,ELMSAN1:NM_001043318:exon2:c.A231G:p.V77V,	ELMSAN1:uc001xot.3:exon2:c.A231G:p.V77V,ELMSAN1:uc010tud.1:exon1:c.A231G:p.V77V,ELMSAN1:uc001xou.3:exon2:c.A231G:p.V77V,	UNKNOWN	Het;T>C	1347;56|58	Hom;T>C	2693;0|92
N	N	-	14	74206658	74206658	G	A	snp	synonymous SNV	C54T	F18F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs758773	0.152955	0.1500	0.1740	1	0	0	exonic	exonic	exonic	ELMSAN1	ELMSAN1	ENSG00000156030	synonymous SNV	synonymous SNV	unknown	ELMSAN1:NM_194278:exon2:c.C54T:p.F18F,ELMSAN1:NM_001043318:exon2:c.C54T:p.F18F,	ELMSAN1:uc001xot.3:exon2:c.C54T:p.F18F,ELMSAN1:uc010tud.1:exon1:c.C54T:p.F18F,ELMSAN1:uc001xou.3:exon2:c.C54T:p.F18F,	UNKNOWN	Het;G>A	701;35|33	Hom;G>A	1490;0|53
N	N	-	14	74206847	74206847	A	G	snp	UTR5	-136T>C	 	 	 	ELMSAN1	Elmsan1	ENSG00000156030	ELM2 and Myb/SANT domain containing 1	chr14:74181825-74256988		Menopause	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA	GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1	https://www.uniprot.org/uniprot/Q6PJG2			http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1	rs758772	0.170128	0	0	1	0	0	UTR5	UTR5	UTR5	ELMSAN1(NM_194278:c.-136T>C,NM_001043318:c.-136T>C)	ELMSAN1(uc001xot.3:c.-136T>C,uc001xou.3:c.-136T>C,uc010tud.1:c.-136T>C)	ENSG00000156030(ENST00000394071:c.-136T>C,ENST00000286523:c.-136T>C,ENST00000423556:c.-136T>C,ENST00000435371:c.-136T>C,ENST00000421708:c.-136T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	116;2|4	Hom;A>G	221;0|8
N	N	-	14	74523949	74523949	G	A	snp	synonymous SNV	G1566A	Q522Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CCDC176	 																	rs3742808	0.300519	0.2383	0.2355	1	0	0	exonic	exonic	exonic	CCDC176	CCDC176	ENSG00000119636	synonymous SNV	synonymous SNV	unknown	CCDC176:NM_025057:exon11:c.G1566A:p.Q522Q,	CCDC176:uc010tup.2:exon11:c.G1566A:p.Q522Q,	UNKNOWN	Het;G>A	409;37|22	Hom;G>A	1494;0|51
N	N	-	14	74531485	74531485	T	G	snp	UTR3	*83T>G	 	 	 	CCDC176	 																	rs3815330	0.30631	0.2433	0.2375	1	0	0	UTR3	UTR3	ncRNA_intronic	CCDC176(NM_025057:c.*83T>G)	CCDC176(uc010tup.2:c.*83T>G)	ENSG00000259114	Na	Na	Na	Na	Na	Na	Het;T>G	1424;54|64	Hom;T>G	3255;0|115
N	N	-	14	74551518	74551518	T	A	snp	UTR5	-148T>A	 	 	 	LIN52	Lin52	ENSG00000205659	lin-52 DREAM MuvB core complex component	chr14:74551499-74667936		Blood Pressure Determination; Circadian Rhythm; Tobacco Use Disorder; Coronary Artery Disease	 	Cyclin A:Cdk2-associated events at S phase entry	GO:0006351;transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0051726;regulation of cell cycle;TAS	GO:0005654;nucleoplasm;TAS|GO:0070176;DRM complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LIN52				http://www.informatics.jax.org/searchtool/Search.do?query=LIN52&submit=Quick%0D%17543ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN52	rs2006731	0.278754	0	0	1	0	0	upstream	upstream	UTR5	ALDH6A1,LIN52	ALDH6A1,LIN52	ENSG00000205659(ENST00000555028:c.-148T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	128;4|4	Hom;T>A	332;0|8
N	N	-	14	74551526	74551526	C	A	snp	UTR5	-140C>A	 	 	 	LIN52	Lin52	ENSG00000205659	lin-52 DREAM MuvB core complex component	chr14:74551499-74667936		Blood Pressure Determination; Circadian Rhythm; Tobacco Use Disorder; Coronary Artery Disease	 	Cyclin A:Cdk2-associated events at S phase entry	GO:0006351;transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0051726;regulation of cell cycle;TAS	GO:0005654;nucleoplasm;TAS|GO:0070176;DRM complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LIN52				http://www.informatics.jax.org/searchtool/Search.do?query=LIN52&submit=Quick%0D%17543ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN52	rs2006732	0.278754	0	0.2199	1	0	0	upstream	upstream	UTR5	ALDH6A1,LIN52	ALDH6A1,LIN52	ENSG00000205659(ENST00000555028:c.-140C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	128;4|4	Hom;C>A	369;0|9
N	N	-	14	74564468	74564468	G	T	snp	intronic	 	 	 	 	LIN52	Lin52	ENSG00000205659	lin-52 DREAM MuvB core complex component	chr14:74551499-74667936		Blood Pressure Determination; Circadian Rhythm; Tobacco Use Disorder; Coronary Artery Disease	 	Cyclin A:Cdk2-associated events at S phase entry	GO:0006351;transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0051726;regulation of cell cycle;TAS	GO:0005654;nucleoplasm;TAS|GO:0070176;DRM complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LIN52				http://www.informatics.jax.org/searchtool/Search.do?query=LIN52&submit=Quick%0D%17543ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN52	rs2098032	0.278754	0.2198	0.2370	1	0	0	intronic	intronic	intronic	LIN52	LIN52	ENSG00000205659	Na	Na	Na	Na	Na	Na	Het;G>T	1133;55|53	Hom;G>T	3107;0|118
N	N	-	14	74564605	74564605	T	C	snp	intronic	 	 	 	 	LIN52	Lin52	ENSG00000205659	lin-52 DREAM MuvB core complex component	chr14:74551499-74667936		Blood Pressure Determination; Circadian Rhythm; Tobacco Use Disorder; Coronary Artery Disease	 	Cyclin A:Cdk2-associated events at S phase entry	GO:0006351;transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0051726;regulation of cell cycle;TAS	GO:0005654;nucleoplasm;TAS|GO:0070176;DRM complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LIN52				http://www.informatics.jax.org/searchtool/Search.do?query=LIN52&submit=Quick%0D%17543ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN52	rs2079635	0.278754	0.2151	0.2318	1	0	0	intronic	intronic	intronic	LIN52	LIN52	ENSG00000205659	Na	Na	Na	Na	Na	Na	Het;T>C	1507;58|64	Hom;T>C	3484;0|126
N	N	-	14	74874540	74874540	A	G	snp	intronic	 	 	 	 	SYNDIG1L	Syndig1l	ENSG00000183379	synapse differentiation inducing 1 like	chr14:74872596-74892805			Mice homozygous for a knock-out allele are viable and fertile, exhibit normal brain anatomy, and show no alterations in striatal vulnerability to a mutant huntingtin fragment.		GO:0009607;response to biotic stimulus;IEA	GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SYNDIG1L			https://www.ncbi.nlm.nih.gov/omim/?term=609999	http://www.informatics.jax.org/searchtool/Search.do?query=SYNDIG1L&submit=Quick%0D%14979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNDIG1L	rs11621669	0.378994	0.4127	0.4332	1	0	0	intronic	intronic	intronic	SYNDIG1L	SYNDIG1L	ENSG00000183379	Na	Na	Na	Na	Na	Na	Het;A>G	780;49|42	Hom;A>G	2234;0|80
N	N	-	14	74874707	74874707	A	G	snp	intronic	 	 	 	 	SYNDIG1L	Syndig1l	ENSG00000183379	synapse differentiation inducing 1 like	chr14:74872596-74892805			Mice homozygous for a knock-out allele are viable and fertile, exhibit normal brain anatomy, and show no alterations in striatal vulnerability to a mutant huntingtin fragment.		GO:0009607;response to biotic stimulus;IEA	GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SYNDIG1L			https://www.ncbi.nlm.nih.gov/omim/?term=609999	http://www.informatics.jax.org/searchtool/Search.do?query=SYNDIG1L&submit=Quick%0D%14979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNDIG1L	rs2884545	0.450879	0.4875	0.4781	1	0	0	intronic	intronic	intronic	SYNDIG1L	SYNDIG1L	ENSG00000183379	Na	Na	Na	Na	Na	Na	Het;A>G	275;27|17	Hom;A>G	1626;0|62
N	N	-	14	74876181	74876181	T	G	snp	synonymous SNV	A267C	T89T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SYNDIG1L	Syndig1l	ENSG00000183379	synapse differentiation inducing 1 like	chr14:74872596-74892805			Mice homozygous for a knock-out allele are viable and fertile, exhibit normal brain anatomy, and show no alterations in striatal vulnerability to a mutant huntingtin fragment.		GO:0009607;response to biotic stimulus;IEA	GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SYNDIG1L			https://www.ncbi.nlm.nih.gov/omim/?term=609999	http://www.informatics.jax.org/searchtool/Search.do?query=SYNDIG1L&submit=Quick%0D%14979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNDIG1L	rs12590672	0.460663	0.4867	0.4777	1	0	0	exonic	exonic	exonic	SYNDIG1L	SYNDIG1L	ENSG00000183379	synonymous SNV	synonymous SNV	unknown	SYNDIG1L:NM_001105579:exon2:c.A267C:p.T89T,	SYNDIG1L:uc001xpx.2:exon2:c.A267C:p.T89T,	UNKNOWN	Het;T>G	934;61|40	Hom;T>G	3114;0|109
N	N	-	14	74876501	74876501	G	C	snp	UTR5	-54C>G	 	 	 	SYNDIG1L	Syndig1l	ENSG00000183379	synapse differentiation inducing 1 like	chr14:74872596-74892805			Mice homozygous for a knock-out allele are viable and fertile, exhibit normal brain anatomy, and show no alterations in striatal vulnerability to a mutant huntingtin fragment.		GO:0009607;response to biotic stimulus;IEA	GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SYNDIG1L			https://www.ncbi.nlm.nih.gov/omim/?term=609999	http://www.informatics.jax.org/searchtool/Search.do?query=SYNDIG1L&submit=Quick%0D%14979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNDIG1L	rs4026651	0.399161	0	0	1	0	0	UTR5	UTR5	UTR5	SYNDIG1L(NM_001105579:c.-54C>G)	SYNDIG1L(uc001xpx.2:c.-54C>G)	ENSG00000183379(ENST00000331628:c.-54C>G,ENST00000554823:c.-54C>G,ENST00000554953:c.-54C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	509;20|26	Hom;G>C	1096;0|35
N	N	-	14	74966763	74966763	G	A	snp	UTR3	*824C>T	 	 	 	LTBP2	Ltbp2	ENSG00000119681	latent transforming growth factor beta binding protein 2	chr14:74964873-75079306	The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hepatocellular carcinoma; Body Height; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; Bone Mineral Density; hypertension; Exfoliation Syndrome|Glaucoma, Open-Angle	Mice homozygous for a null allele exhibit early embryonic lethality prior to E6.5. Mice homozygous for a different null allele are viable, fertile, and developmentally normal but develop lens dislocations due to ciliary zonule fragmentation.	Molecules associated with elastic fibres	GO:0006605;protein targeting;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0009306;protein secretion;TAS|GO:0097435;supramolecular fiber organization;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LTBP2	https://www.uniprot.org/uniprot/Q14767	https://hpo.jax.org/app/browse/search?q=LTBP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602091	http://www.informatics.jax.org/searchtool/Search.do?query=LTBP2&submit=Quick%0D%5094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP2	rs7569	0.29992	0	0	1	0	0	UTR3	UTR3	UTR3	LTBP2(NM_000428:c.*824C>T)	LTBP2(uc001xqa.3:c.*824C>T)	ENSG00000119681(ENST00000261978:c.*824C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	360;32|24	Hom;G>A	1248;0|50
N	N	-	14	75537381	75537381	C	T	snp	synonymous SNV	C105T	Y35Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	ZC2HC1C	Zc2hc1c	ENSG00000119703	zinc finger C2HC-type containing 1C	chr14:75530873-75545126			 				GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC2HC1C	https://www.uniprot.org/uniprot/Q53FD0			http://www.informatics.jax.org/searchtool/Search.do?query=ZC2HC1C&submit=Quick%0D%5102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC2HC1C	rs11546525	0.349241	0.3139	0.4020	1	0	0	exonic	exonic	exonic	ZC2HC1C	ZC2HC1C	ENSG00000119703	synonymous SNV	synonymous SNV	unknown	ZC2HC1C:NM_001042430:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_024643:exon2:c.C105T:p.Y35Y,	ZC2HC1C:uc001xrh.3:exon2:c.C105T:p.Y35Y,ZC2HC1C:uc001xri.3:exon2:c.C105T:p.Y35Y,	UNKNOWN	Het;C>T	954;48|46	Hom;C>T	2444;0|89
N	N	-	14	76246172	76246172	T	A	snp	intronic	 	 	 	 	TTLL5	Ttll5	ENSG00000119685	tubulin tyrosine ligase like 5	chr14:76099968-76421421	This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]	Body Height	Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa.	Carboxyterminal post-translational modifications of tubulin	GO:0006351;transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;IEA|GO:0007283;spermatogenesis;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0009566;fertilization;IEA|GO:0018095;protein polyglutamylation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0060041;retina development in camera-type eye;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0070740;tubulin-glutamic acid ligase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TTLL5	https://www.uniprot.org/uniprot/Q6EMB2	https://hpo.jax.org/app/browse/search?q=TTLL5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612268	http://www.informatics.jax.org/searchtool/Search.do?query=TTLL5&submit=Quick%0D%5097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL5	rs2303346	0.811502	0	0	1	0	0	intronic	intronic	intronic	TTLL5	TTLL5	ENSG00000119685	Na	Na	Na	Na	Na	Na	Het;T>A	133;7|7	Hom;T>A	300;0|10
N	N	-	14	76429555	76429555	C	T	snp	UTR3	*100G>A	 	 	 	TGFB3	Tgfb3	ENSG00000119699	transforming growth factor beta 3	chr14:76424442-76449334	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]	Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; Albuminuria|Hypertension|Kidney Diseases; Coronary Disease; Cleft Lip|Cleft Palate; cleft lip with or without cleft palate; cleft lip without cleft palate; cleft palate; cleft lip with or without cleft palate; cleft palate, isolated; hypertension; keloids; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; pulmonary fibrosis sarcoidosis; Hepatitis C, Chronic|Liver Cirrhosis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Hypertension, Pregnancy-Induced; Cleft Lip|Cleft Palate|Syndrome; Cleft Lip|Cleft Palate|; cleft lip with cleft palate cleft lip without cleft palate cleft palate; atherosclerosis; cleft palate; cleft lip; Abdominal Aortic Aneurysm; Bone Mineral Density	Homozygotes for targeted null mutations exhibit cleft palate, lung hypoplasia, hemothorax, impaired suckling, respiratory distress, and neonatal lethality.	ECM proteoglycans	GO:0000187;activation of MAPK activity;IEA|GO:0001666;response to hypoxia;IDA|GO:0001701;in utero embryonic development;ISS|GO:0002576;platelet degranulation;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0016049;cell growth;IEA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030879;mammary gland development;ISS|GO:0032570;response to progesterone;IDA|GO:0032967;positive regulation of collagen biosynthetic process;IMP|GO:0034616;response to laminar fluid shear stress;IEA|GO:0042060;wound healing;IEA|GO:0042476;odontogenesis;NAS|GO:0042704;uterine wall breakdown;TAS|GO:0042981;regulation of apoptotic process;IBA|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043408;regulation of MAPK cascade;IBA|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043627;response to estrogen;IEA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045216;cell-cell junction organization;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048286;lung alveolus development;ISS|GO:0048468;cell development;IBA|GO:0048565;digestive tract development;IEA|GO:0048702;embryonic neurocranium morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050714;positive regulation of protein secretion;IDA|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0051496;positive regulation of stress fiber assembly;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0060021;palate development;ISS|GO:0060325;face morphogenesis;IMP|GO:0060364;frontal suture morphogenesis;IEA|GO:0060391;positive regulation of SMAD protein import into nucleus;ISS|GO:0060395;SMAD protein signal transduction;IBA|GO:0070483;detection of hypoxia;IDA|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IDA|GO:1905075;positive regulation of occluding junction disassembly;IDA|GO:0000187;activation of MAPK activity;IEA|GO:0001666;response to hypoxia;IDA|GO:0001701;in utero embryonic development;ISS|GO:0002576;platelet degranulation;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0016049;cell growth;IEA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030879;mammary gland development;ISS|GO:0032570;response to progesterone;IDA|GO:0032967;positive regulation of collagen biosynthetic process;IMP|GO:0034616;response to laminar fluid shear stress;IEA|GO:0042060;wound healing;IEA|GO:0042476;odontogenesis;NAS|GO:0042704;uterine wall breakdown;TAS|GO:0042981;regulation of apoptotic process;IBA|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043408;regulation of MAPK cascade;IBA|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043627;response to estrogen;IEA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045216;cell-cell junction organization;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048286;lung alveolus development;ISS|GO:0048468;cell development;IBA|GO:0048565;digestive tract development;IEA|GO:0048702;embryonic neurocranium morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050714;positive regulation of protein secretion;IDA|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0051496;positive regulation of stress fiber assembly;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0060021;palate development;ISS|GO:0060325;face morphogenesis;IMP|GO:0060364;frontal suture morphogenesis;IEA|GO:0060391;positive regulation of SMAD protein import into nucleus;ISS|GO:0060395;SMAD protein signal transduction;IBA|GO:0070483;detection of hypoxia;IDA|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IDA|GO:1905075;positive regulation of occluding junction disassembly;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IC|GO:0009986;cell surface;IEA|GO:0030141;secretory granule;IEA|GO:0030315;T-tubule;IEA|GO:0031012;extracellular matrix;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005114;type II transforming growth factor beta receptor binding;IDA|GO:0005125;cytokine activity;IBA|GO:0005160;transforming growth factor beta receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0034713;type I transforming growth factor beta receptor binding;IDA|GO:0034714;type III transforming growth factor beta receptor binding;IMP|GO:0042802;identical protein binding;IDA|GO:0046982;protein heterodimerization activity;IEA|GO:0050431;transforming growth factor beta binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TGFB3	https://www.uniprot.org/uniprot/P10600	https://hpo.jax.org/app/browse/search?q=TGFB3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190230	http://www.informatics.jax.org/searchtool/Search.do?query=TGFB3&submit=Quick%0D%126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFB3	rs3917201	0.651757	0	0	1	0	0	intronic	UTR3	UTR3	TGFB3	TGFB3(uc001xsd.3:c.*100G>A)	ENSG00000119699(ENST00000556285:c.*100G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	130;3|6	Hom;C>T	125;0|5
N	N	-	14	76870703	76870703	T	A	snp	intronic	 	 	 	 	ESRRB	Esrrb	ENSG00000119715	estrogen related receptor beta	chr14:76776957-76968178	This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; Hematocrit; prostate cancer; Tobacco Use Disorder	Mice homozygous for disruptions in this gene die as embryos around E9.5 or E10.5 as a result of failure of the chorion to develop and subsequent placental defects.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0019827;stem cell population maintenance;IDA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;ISS|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003713;transcription coactivator activity;ISS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005496;steroid binding;IEA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESRRB	https://www.uniprot.org/uniprot/O95718	https://hpo.jax.org/app/browse/search?q=ESRRB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602167	http://www.informatics.jax.org/searchtool/Search.do?query=ESRRB&submit=Quick%0D%5107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESRRB	rs45512292	0.0838658	0	0	1	0	0	intronic	intronic	intronic	ESRRB	ESRRB	ENSG00000119715	Na	Na	Na	Na	Na	Na	Het;T>A	455;15|22	Hom;T>A	993;2|39
N	N	-	14	77327254	77327254	T	G	snp	intronic	 	 	 	 	LRRC74A	Lrrc74a																	rs45536531	0.41234	0	0	1	0	0	intronic	intronic	intronic	LRRC74A	C14orf166B	ENSG00000100565	Na	Na	Na	Na	Na	Na	Het;T>G	801;43|36	Hom;T>G	1728;0|59
N	N	-	14	77429104	77429104	T	G	snp	ncRNA_intronic	 	 	 	 	LINC01629																		rs4903521	0.643171	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LRRC74A(dist=92459),IRF2BPL(dist=61782)	C14orf166B(dist=92459),IRF2BPL(dist=61782)	ENSG00000258602	Na	Na	Na	Na	Na	Na	Het;T>G	118;4|4	Hom;T>G	276;0|7
N	N	-	14	77429105	77429105	T	C	snp	ncRNA_intronic	 	 	 	 	LINC01629																		rs4899629	0.642173	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LRRC74A(dist=92460),IRF2BPL(dist=61781)	C14orf166B(dist=92460),IRF2BPL(dist=61781)	ENSG00000258602	Na	Na	Na	Na	Na	Na	Het;T>C	118;4|3	Hom;T>C	276;0|6
N	N	-	14	77431904	77431904	C	G	snp	ncRNA_intronic	 	 	 	 	LINC01629																		rs2041963	0.903355	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LRRC74A(dist=95259),IRF2BPL(dist=58982)	C14orf166B(dist=95259),IRF2BPL(dist=58982)	ENSG00000258602	Na	Na	Na	Na	Na	Na	Het;C>G	134;7|6	Hom;C>G	298;0|11
N	N	-	14	77493647	77493647	A	G	snp	synonymous SNV	T489C	A163A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IRF2BPL	Irf2bpl	ENSG00000119669	interferon regulatory factor 2 binding protein like	chr14:77490888-77495034	This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]	Blood Pressure Determination; Neuroblastoma; Anticonvulsants	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046543;development of secondary female sexual characteristics;ISS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;ISS|GO:0005654;nucleoplasm;IDA	GO:0003674;molecular_function;ND|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IRF2BPL	https://www.uniprot.org/uniprot/Q9H1B7	https://hpo.jax.org/app/browse/search?q=IRF2BPL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611720	http://www.informatics.jax.org/searchtool/Search.do?query=IRF2BPL&submit=Quick%0D%5092ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF2BPL	rs61991619	0.166733	0.0725	0.2658	1	0	0	exonic	exonic	exonic	IRF2BPL	IRF2BPL	ENSG00000119669	synonymous SNV	synonymous SNV	unknown	IRF2BPL:NM_024496:exon1:c.T489C:p.A163A,	IRF2BPL:uc001xsy.4:exon1:c.T489C:p.A163A,	UNKNOWN	Het;A>G	293;19|9	Hom;A>G	1054;0|30
N	N	-	14	77493761	77493767	TTGCTGC	T	indel	nonframeshift substitution	369_375A	 	 	 	IRF2BPL	Irf2bpl	ENSG00000119669	interferon regulatory factor 2 binding protein like	chr14:77490888-77495034	This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]	Blood Pressure Determination; Neuroblastoma; Anticonvulsants	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046543;development of secondary female sexual characteristics;ISS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;ISS|GO:0005654;nucleoplasm;IDA	GO:0003674;molecular_function;ND|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IRF2BPL	https://www.uniprot.org/uniprot/Q9H1B7	https://hpo.jax.org/app/browse/search?q=IRF2BPL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611720	http://www.informatics.jax.org/searchtool/Search.do?query=IRF2BPL&submit=Quick%0D%5092ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF2BPL	rs200317113	0.930112	0	0.4035	1	0	0	exonic	exonic	exonic	IRF2BPL	IRF2BPL	ENSG00000119669	nonframeshift substitution	nonframeshift substitution	unknown	IRF2BPL:NM_024496:exon1:c.369_375A,	IRF2BPL:uc001xsy.4:exon1:c.369_375A,	UNKNOWN	Het;-TGCTGC	246;18|8	Hom;-TGCTGC	1660;0|39
N	N	-	14	77533773	77533774	CT	C	indel	ncRNA_exonic	 	 	 	 	LOC283575																		Na	0	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	LOC283575	BC038792	ENSG00000246548	Na	Na	Na	Na	Na	Na	Het;-T	42;9|6	Hom;-T	131;1|8
N	N	-	14	77534098	77534098	T	C	snp	ncRNA_exonic	 	 	 	 	LOC283575																		rs17811461	0.296326	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	LOC283575	BC038792	ENSG00000246548	Na	Na	Na	Na	Na	Na	Het;T>C	691;48|36	Hom;T>C	2773;0|99
N	N	-	14	77535875	77535875	G	GA	indel	ncRNA_exonic	 	 	 	 	LOC102724190																		rs11461106	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC102724190	AK124327	ENSG00000258819	Na	Na	Na	Na	Na	Na	Het;+A	281;16|15	Hom;+A	737;0|28
N	N	-	14	77542494	77542494	G	A	snp	ncRNA_exonic	 	 	 	 	LOC102724190																		rs2160664	0.278954	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC102724190	AK124327	ENSG00000258819	Na	Na	Na	Na	Na	Na	Het;G>A	866;52|44	Hom;G>A	1556;2|61
N	N	-	14	77542574	77542574	C	T	snp	ncRNA_exonic	 	 	 	 	LINC02289																		rs918140	0.285743	0	0	1	0	0	upstream	ncRNA_intronic	ncRNA_exonic	LOC102724190	BC038792	ENSG00000258819	Na	Na	Na	Na	Na	Na	Het;C>T	499;19|23	Hom;C>T	707;1|29
N	N	-	14	77600344	77600344	G	T	snp	intronic	 	 	 	 	ZDHHC22	Zdhhc22	ENSG00000177108	zinc finger DHHC-type containing 22	chr14:77597613-77609077			 			GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC22				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC22&submit=Quick%0D%13971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC22	rs7141511	0.416933	0	0	1	0	0	intronic	intronic	intronic	ZDHHC22	ZDHHC22	ENSG00000165548,ENSG00000177108,ENSG00000259164	Na	Na	Na	Na	Na	Na	Het;G>T	324;4|13	Hom;G>T	747;2|28
N	N	-	14	77685357	77685357	G	A	snp	intronic	 	 	 	 	TMEM63C	Tmem63c	ENSG00000165548	transmembrane protein 63C	chr14:77582911-77725838		Diabetic Nephropathies; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0098655;cation transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005227;calcium activated cation channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM63C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM63C&submit=Quick%0D%11566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM63C	rs6574361	0.21845	0.1252	0	1	0	0	intronic	intronic	intronic	TMEM63C	TMEM63C	ENSG00000165548,ENSG00000259164	Na	Na	Na	Na	Na	Na	Het;G>A	209;16|12	Hom;G>A	502;0|19
N	N	-	14	77688982	77688982	G	T	snp	intronic	 	 	 	 	TMEM63C	Tmem63c	ENSG00000165548	transmembrane protein 63C	chr14:77582911-77725838		Diabetic Nephropathies; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0098655;cation transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005227;calcium activated cation channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM63C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM63C&submit=Quick%0D%11566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM63C	rs10400728	0.289936	0	0	1	0	0	intronic	intronic	intronic	TMEM63C	TMEM63C	ENSG00000165548,ENSG00000259164	Na	Na	Na	Na	Na	Na	Het;G>T	36;5|3	Hom;G>T	137;0|5
N	N	-	14	77689054	77689054	G	C	snp	intronic	 	 	 	 	TMEM63C	Tmem63c	ENSG00000165548	transmembrane protein 63C	chr14:77582911-77725838		Diabetic Nephropathies; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0098655;cation transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005227;calcium activated cation channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM63C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM63C&submit=Quick%0D%11566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM63C	rs9323637	0.348243	0	0	1	0	0	intronic	intronic	intronic	TMEM63C	TMEM63C	ENSG00000165548,ENSG00000259164	Na	Na	Na	Na	Na	Na	Het;G>C	90;4|6	Hom;G>C	159;0|7
N	N	-	14	77698214	77698214	A	G	snp	intronic	 	 	 	 	TMEM63C	Tmem63c	ENSG00000165548	transmembrane protein 63C	chr14:77582911-77725838		Diabetic Nephropathies; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0098655;cation transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005227;calcium activated cation channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM63C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM63C&submit=Quick%0D%11566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM63C	rs376281	0.575479	0	0	1	0	0	intronic	intronic	intronic	TMEM63C	TMEM63C	ENSG00000165548	Na	Na	Na	Na	Na	Na	Het;A>G	293;9|9	Hom;A>G	622;0|17
N	N	-	14	77872933	77872945	TACACACACACAC	T	indel	intronic	 	 	 	 	NOXRED1	Noxred1	ENSG00000165555	NADP dependent oxidoreductase domain containing 1	chr14:77860364-77889860			 		GO:0006561;proline biosynthetic process;IEA|GO:0008150;biological_process;ND|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0004735;pyrroline-5-carboxylate reductase activity;IEA|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOXRED1				http://www.informatics.jax.org/searchtool/Search.do?query=NOXRED1&submit=Quick%0D%11568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOXRED1	rs139730228	0.84984	0	0	1	0	0	intronic	intronic	intronic	NOXRED1	NOXRED1	ENSG00000165555	Na	Na	Na	Na	Na	Na	Het;-ACACACACACAC	122;3|4	Hom;-ACACACACACAC	383;0|10
N	N	-	14	77880493	77880493	C	T	snp	intronic	 	 	 	 	NOXRED1	Noxred1	ENSG00000165555	NADP dependent oxidoreductase domain containing 1	chr14:77860364-77889860			 		GO:0006561;proline biosynthetic process;IEA|GO:0008150;biological_process;ND|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0004735;pyrroline-5-carboxylate reductase activity;IEA|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOXRED1				http://www.informatics.jax.org/searchtool/Search.do?query=NOXRED1&submit=Quick%0D%11568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOXRED1	rs8005759	0.47524	0.3960	0.5114	1	0	0	intronic	intronic	intronic	NOXRED1	NOXRED1	ENSG00000165555	Na	Na	Na	Na	Na	Na	Het;C>T	432;17|20	Hom;C>T	395;0|15
N	N	-	14	77880593	77880593	T	C	snp	intronic	 	 	 	 	NOXRED1	Noxred1	ENSG00000165555	NADP dependent oxidoreductase domain containing 1	chr14:77860364-77889860			 		GO:0006561;proline biosynthetic process;IEA|GO:0008150;biological_process;ND|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0004735;pyrroline-5-carboxylate reductase activity;IEA|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOXRED1				http://www.informatics.jax.org/searchtool/Search.do?query=NOXRED1&submit=Quick%0D%11568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOXRED1	rs11159258	0.523762	0	0	1	0	0	intronic	intronic	intronic	NOXRED1	NOXRED1	ENSG00000165555	Na	Na	Na	Na	Na	Na	Het;T>C	78;1|4	Hom;T>C	149;0|5
N	N	-	14	77881974	77881974	T	C	snp	intronic	 	 	 	 	NOXRED1	Noxred1	ENSG00000165555	NADP dependent oxidoreductase domain containing 1	chr14:77860364-77889860			 		GO:0006561;proline biosynthetic process;IEA|GO:0008150;biological_process;ND|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0004735;pyrroline-5-carboxylate reductase activity;IEA|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOXRED1				http://www.informatics.jax.org/searchtool/Search.do?query=NOXRED1&submit=Quick%0D%11568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOXRED1	rs55809458	0	0	0	1	0	0	intronic	intronic	intronic	NOXRED1	NOXRED1	ENSG00000165555	Na	Na	Na	Na	Na	Na	Het;T>C	640;9|17	Hom;T>C	1092;0|29
N	N	-	14	77914752	77914752	A	G	snp	intronic	 	 	 	 	VIPAS39	Vipas39	ENSG00000151445	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	chr14:77893018-77924295	This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]	Arthrogryposis renal dysfunction and cholestasis 2	Mice homozygous for a conditional allele activated by an inducible cre exhibit dry and scaly skin, hair loss, and defects in tail tendon collagen I structure.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0007283;spermatogenesis;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VIPAS39	https://www.uniprot.org/uniprot/Q9H9C1	https://hpo.jax.org/app/browse/search?q=VIPAS39&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613401	http://www.informatics.jax.org/searchtool/Search.do?query=VIPAS39&submit=Quick%0D%9419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VIPAS39	rs2091916	0.474441	0	0	1	0	0	intronic	intronic	intronic	VIPAS39	VIPAS39	ENSG00000151445	Na	Na	Na	Na	Na	Na	Het;A>G	315;30|15	Hom;A>G	1410;0|42
N	N	-	14	77926011	77926011	C	T	snp	synonymous SNV	C133T	L45L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHSA1	Ahsa1	ENSG00000100591	activator of HSP90 ATPase activity 1	chr14:77924213-77935817			 		GO:0006950;response to stress;IEA|GO:0032781;positive regulation of ATPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0001671;ATPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AHSA1	https://www.uniprot.org/uniprot/O95433		https://www.ncbi.nlm.nih.gov/omim/?term=608466	http://www.informatics.jax.org/searchtool/Search.do?query=AHSA1&submit=Quick%0D%2560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHSA1	rs1061629	0.474441	0.3950	0.5092	1	0	0	exonic	exonic	exonic	AHSA1	AHSA1	ENSG00000100591	synonymous SNV	synonymous SNV	unknown	AHSA1:NM_012111:exon2:c.C133T:p.L45L,	AHSA1:uc001xtw.3:exon2:c.C133T:p.L45L,AHSA1:uc010tvk.1:exon2:c.C133T:p.L45L,	UNKNOWN	Het;C>T	1110;53|54	Hom;C>T	2966;0|109
N	N	-	14	77928476	77928476	C	T	snp	intronic	 	 	 	 	AHSA1	Ahsa1	ENSG00000100591	activator of HSP90 ATPase activity 1	chr14:77924213-77935817			 		GO:0006950;response to stress;IEA|GO:0032781;positive regulation of ATPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0001671;ATPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AHSA1	https://www.uniprot.org/uniprot/O95433		https://www.ncbi.nlm.nih.gov/omim/?term=608466	http://www.informatics.jax.org/searchtool/Search.do?query=AHSA1&submit=Quick%0D%2560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHSA1	rs12436593	0.510783	0.4336	0.5225	1	0	0	intronic	intronic	intronic	AHSA1	AHSA1	ENSG00000100591	Na	Na	Na	Na	Na	Na	Het;C>T	534;13|24	Hom;C>T	784;0|31
N	N	-	14	77932017	77932017	A	C	snp	intronic	 	 	 	 	AHSA1	Ahsa1	ENSG00000100591	activator of HSP90 ATPase activity 1	chr14:77924213-77935817			 		GO:0006950;response to stress;IEA|GO:0032781;positive regulation of ATPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0001671;ATPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AHSA1	https://www.uniprot.org/uniprot/O95433		https://www.ncbi.nlm.nih.gov/omim/?term=608466	http://www.informatics.jax.org/searchtool/Search.do?query=AHSA1&submit=Quick%0D%2560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHSA1	rs7146595	0.479433	0.4013	0.5117	1	0	0	intronic	intronic	intronic	AHSA1	AHSA1	ENSG00000100591	Na	Na	Na	Na	Na	Na	Het;A>C	860;31|37	Hom;A>C	1123;0|38
N	N	-	14	77932111	77932111	A	G	snp	intronic	 	 	 	 	AHSA1	Ahsa1	ENSG00000100591	activator of HSP90 ATPase activity 1	chr14:77924213-77935817			 		GO:0006950;response to stress;IEA|GO:0032781;positive regulation of ATPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0001671;ATPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AHSA1	https://www.uniprot.org/uniprot/O95433		https://www.ncbi.nlm.nih.gov/omim/?term=608466	http://www.informatics.jax.org/searchtool/Search.do?query=AHSA1&submit=Quick%0D%2560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHSA1	rs7146784	0.480831	0	0	1	0	0	intronic	intronic	intronic	AHSA1	AHSA1	ENSG00000100591	Na	Na	Na	Na	Na	Na	Het;A>G	186;8|6	Hom;A>G	162;0|7
N	N	-	14	77934758	77934758	A	G	snp	intronic	 	 	 	 	AHSA1	Ahsa1	ENSG00000100591	activator of HSP90 ATPase activity 1	chr14:77924213-77935817			 		GO:0006950;response to stress;IEA|GO:0032781;positive regulation of ATPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0001671;ATPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AHSA1	https://www.uniprot.org/uniprot/O95433		https://www.ncbi.nlm.nih.gov/omim/?term=608466	http://www.informatics.jax.org/searchtool/Search.do?query=AHSA1&submit=Quick%0D%2560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHSA1	rs4903584	0.479433	0.4011	0.5119	1	0	0	intronic	intronic	intronic	AHSA1	AHSA1	ENSG00000100591	Na	Na	Na	Na	Na	Na	Het;A>G	883;33|42	Hom;A>G	2135;0|82
N	N	-	14	77935520	77935520	G	A	snp	synonymous SNV	G945A	T315T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AHSA1	Ahsa1	ENSG00000100591	activator of HSP90 ATPase activity 1	chr14:77924213-77935817			 		GO:0006950;response to stress;IEA|GO:0032781;positive regulation of ATPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0001671;ATPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AHSA1	https://www.uniprot.org/uniprot/O95433		https://www.ncbi.nlm.nih.gov/omim/?term=608466	http://www.informatics.jax.org/searchtool/Search.do?query=AHSA1&submit=Quick%0D%2560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHSA1	rs7250	0.479433	0.4011	0.5113	1	0	0	exonic	exonic	exonic	AHSA1	AHSA1	ENSG00000100591	synonymous SNV	synonymous SNV	unknown	AHSA1:NM_012111:exon9:c.G945A:p.T315T,	AHSA1:uc001xtw.3:exon9:c.G945A:p.T315T,	UNKNOWN	Het;G>A	1267;52|62	Hom;G>A	2300;0|90
N	N	-	14	77951124	77951124	C	T	snp	nonsynonymous SNV	G280A	A94T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ISM2	Ism2	ENSG00000100593	isthmin 2	chr14:77940740-77965210	The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]		 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ISM2	https://www.uniprot.org/uniprot/Q6H9L7		https://www.ncbi.nlm.nih.gov/omim/?term=612684	http://www.informatics.jax.org/searchtool/Search.do?query=ISM2&submit=Quick%0D%2562ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISM2	rs3742728	0.589657	0.5215	0.6567	0.17	2	12	exonic	exonic	exonic	ISM2	ISM2	ENSG00000100593	nonsynonymous SNV	nonsynonymous SNV	unknown	ISM2:NM_199296:exon2:c.G280A:p.A94T,ISM2:NM_182509:exon2:c.G280A:p.A94T,	ISM2:uc001xua.3:exon2:c.G280A:p.A94T,ISM2:uc001xtz.3:exon2:c.G280A:p.A94T,ISM2:uc001xty.3:exon3:c.G16A:p.A6T,	UNKNOWN	Het;C>T	1379;35|62	Hom;C>T	2382;0|90
N	N	-	14	78163423	78163423	T	C	snp	ncRNA_exonic	 	 	 	 	ZMYND19P1																		rs2284235	0.300519	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ALKBH1	ALKBH1	ENSG00000258917	Na	Na	Na	Na	Na	Na	Het;T>C	41;3|2	Hom;T>C	246;0|9
N	N	-	14	78500018	78500018	G	A	snp	intergenic	 	 	 	 	ADCK1	Adck1	ENSG00000063761	aarF domain containing kinase 1	chr14:78266426-78401355		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA	GO:0005576;extracellular region;IEA	GO:0000166;nucleotide binding;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCK1	https://www.uniprot.org/uniprot/Q86TW2			http://www.informatics.jax.org/searchtool/Search.do?query=ADCK1&submit=Quick%0D%1112ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK1	rs177228	0.917133	0	0	1	0	0	intergenic	intergenic	intergenic	ADCK1(dist=99721),NONE(dist=NONE)	ADCK1(dist=99721),NONE(dist=NONE)	ENSG00000063761(dist=99721),ENSG00000258421(dist=26267)	Na	Na	Na	Na	Na	Na	Het;G>A	67;1|3	Hom;G>A	110;0|4
N	N	-	14	78710044	78710044	G	A	snp	unknown	 	 	 	 	NRXN3	Nrxn3	ENSG00000021645	neurexin 3	chr14:78708734-80330762	This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]	Hypertension; Hemoglobin A, Glycosylated; Alcoholism; Blood Flow Velocity; Psychiatric Disorders; several psychiatric disorders; schizophrenia; Glucose; monocyte chemoattractant protein 1 (66-77); Body Weight Changes; obesity; Forced Expiratory Volume; Diabetic Nephropathies; waist circumference; Body Mass Index; Coronary Artery Disease; Cleft Lip|Cleft Palate|Tooth Abnormalities; Coronary Disease; Obesity; Lipoproteins, VLDL; Blood Pressure Determination; Abdominal Fat; Waist Circumference; Tobacco Use Disorder	Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.	Neurexins and neuroligins	GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007165;signal transduction;NAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007269;neurotransmitter secretion;IEA|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;IEA|GO:0007612;learning;IGI|GO:0030534;adult behavior;IGI|GO:0035176;social behavior;IGI|GO:0051965;positive regulation of synapse assembly;IEA|GO:0065009;regulation of molecular function;IEA|GO:0071625;vocalization behavior;IGI|GO:0090129;positive regulation of synapse maturation;IEA	GO:0005623;cell;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005246;calcium channel regulator activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;TAS|GO:0097109;neuroligin family protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NRXN3	https://www.uniprot.org/uniprot/Q9HDB5		https://www.ncbi.nlm.nih.gov/omim/?term=600567	http://www.informatics.jax.org/searchtool/Search.do?query=NRXN3&submit=Quick%0D%666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRXN3	rs11626446	0.19988	0.2218	0.2461	1	0	0	intergenic	intergenic	exonic	NONE(dist=NONE),NONE(dist=NONE)	TRNA_Pseudo(dist=9134),NONE(dist=NONE)	ENSG00000021645	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	1263;61|60	Hom;G>A	3290;0|116
N	N	-	14	83539093	83539093	G	A	snp	intergenic	 	 	 	 	RNU7-51P																		rs12323801	0.733027	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01467(dist=1449688),NONE(dist=NONE)	Mir_633(dist=1081424),NONE(dist=NONE)	ENSG00000252369(dist=24109),ENSG00000238561(dist=677635)	Na	Na	Na	Na	Na	Na	Het;G>A	1167;73|61	Hom;G>A	3478;0|133
N	N	-	14	84189202	84189202	T	A	snp	intergenic	 	 	 	 	RNU7-51P																		rs12882066	0.415735	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00911(dist=1671021)	Mir_633(dist=1731533),Mir_548(dist=1462732)	ENSG00000252369(dist=674218),ENSG00000238561(dist=27526)	Na	Na	Na	Na	Na	Na	Het;T>A	167;5|6	Hom;T>A	352;0|10
N	N	-	14	84638109	84638109	C	T	snp	intergenic	 	 	 	 	LINC02305																		rs4904166	0.628794	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00911(dist=1222114)	NONE(dist=NONE),Mir_548(dist=1013825)	ENSG00000258532(dist=256715),ENSG00000258762(dist=1076)	Na	Na	Na	Na	Na	Na	Het;C>T	161;7|9	Hom;C>T	155;0|7
N	N	-	14	85484751	85484751	C	CT	indel	intergenic	 	 	 	 	AL163642.2																		rs35550912	0.623003	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00911(dist=375472)	NONE(dist=NONE),Mir_548(dist=167183)	ENSG00000271712(dist=19111),ENSG00000259044(dist=184442)	Na	Na	Na	Na	Na	Na	Het;+T	124;24|10	Hom;+T	987;1|43
N	N	-	14	85996963	85996964	AT	A	indel	intronic	 	 	 	 	FLRT2	Flrt2	ENSG00000185070	fibronectin leucine rich transmembrane protein 2	chr14:85996488-86095034	This gene encodes a member of the fibronectin leucine rich transmembrane (FLRT) family of cell adhesion molecules, which regulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular region consisting of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent through its interaction with members of the uncoordinated-5 receptor family. Proteolytic removal of the extracellular region controls the migration of neurons in the developing cortex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	kidney aging	Mice homozygous for a knock-out allele exhibit embryonic, fetal, and postnatel lethality with few mice surviving to weaning due to defects in epicardium, myocardium, and endocardium development.	Downstream signaling of activated FGFR1	GO:0003007;heart morphogenesis;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050919;negative chemotaxis;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0061343;cell adhesion involved in heart morphogenesis;IEA|GO:0071711;basement membrane organization;IEA|GO:2001222;regulation of neuron migration;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031090;organelle membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005057;signal transducer activity, downstream of receptor;NAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0030674;protein binding, bridging;NAS|GO:0045499;chemorepellent activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLRT2			https://www.ncbi.nlm.nih.gov/omim/?term=604807	http://www.informatics.jax.org/searchtool/Search.do?query=FLRT2&submit=Quick%0D%15338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLRT2	rs5810256	0.460863	0	0	1	0	0	intronic	intronic	intronic	FLRT2	FLRT2	ENSG00000185070	Na	Na	Na	Na	Na	Na	Het;-T	123;2|8	Hom;-T	504;0|22
N	N	-	14	86189760	86189760	T	C	snp	intergenic	 	 	 	 	FLRT2	Flrt2	ENSG00000185070	fibronectin leucine rich transmembrane protein 2	chr14:85996488-86095034	This gene encodes a member of the fibronectin leucine rich transmembrane (FLRT) family of cell adhesion molecules, which regulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular region consisting of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent through its interaction with members of the uncoordinated-5 receptor family. Proteolytic removal of the extracellular region controls the migration of neurons in the developing cortex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	kidney aging	Mice homozygous for a knock-out allele exhibit embryonic, fetal, and postnatel lethality with few mice surviving to weaning due to defects in epicardium, myocardium, and endocardium development.	Downstream signaling of activated FGFR1	GO:0003007;heart morphogenesis;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050919;negative chemotaxis;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0061343;cell adhesion involved in heart morphogenesis;IEA|GO:0071711;basement membrane organization;IEA|GO:2001222;regulation of neuron migration;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031090;organelle membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005057;signal transducer activity, downstream of receptor;NAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0030674;protein binding, bridging;NAS|GO:0045499;chemorepellent activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLRT2			https://www.ncbi.nlm.nih.gov/omim/?term=604807	http://www.informatics.jax.org/searchtool/Search.do?query=FLRT2&submit=Quick%0D%15338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLRT2	rs28740978	0.622404	0	0	1	0	0	intergenic	intergenic	intergenic	FLRT2(dist=95490),LOC101928767(dist=211262)	FLRT2(dist=95490),LOC283585(dist=1182362)	ENSG00000185070(dist=94726),ENSG00000258733(dist=211294)	Na	Na	Na	Na	Na	Na	Het;T>C	254;13|9	Hom;T>C	515;0|16
N	N	-	14	88658483	88658483	C	T	snp	intronic	 	 	 	 	KCNK10	Kcnk10	ENSG00000100433	potassium two pore domain channel subfamily K member 10	chr14:88649113-88793251	The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]	Neurobehavioral Manifestations; Cholesterol; Neuroblastoma	Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose.	Phase 4 - resting membrane potential	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007165;signal transduction;NAS|GO:0007613;memory;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK10	https://www.uniprot.org/uniprot/P57789		https://www.ncbi.nlm.nih.gov/omim/?term=605873	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK10&submit=Quick%0D%2523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK10	rs3825679	0.225439	0	0	1	0	0	intronic	intronic	intronic	KCNK10	KCNK10	ENSG00000100433	Na	Na	Na	Na	Na	Na	Het;C>T	31;2|2	Hom;C>T	129;0|5
N	N	-	14	88658559	88658559	G	T	snp	intronic	 	 	 	 	KCNK10	Kcnk10	ENSG00000100433	potassium two pore domain channel subfamily K member 10	chr14:88649113-88793251	The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]	Neurobehavioral Manifestations; Cholesterol; Neuroblastoma	Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose.	Phase 4 - resting membrane potential	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007165;signal transduction;NAS|GO:0007613;memory;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK10	https://www.uniprot.org/uniprot/P57789		https://www.ncbi.nlm.nih.gov/omim/?term=605873	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK10&submit=Quick%0D%2523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK10	rs2277525	0.225439	0.1865	0.2176	1	0	0	intronic	intronic	intronic	KCNK10	KCNK10	ENSG00000100433	Na	Na	Na	Na	Na	Na	Het;G>T	215;23|13	Hom;G>T	799;0|30
N	N	-	14	88693683	88693683	A	G	snp	intronic	 	 	 	 	KCNK10	Kcnk10	ENSG00000100433	potassium two pore domain channel subfamily K member 10	chr14:88649113-88793251	The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]	Neurobehavioral Manifestations; Cholesterol; Neuroblastoma	Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose.	Phase 4 - resting membrane potential	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007165;signal transduction;NAS|GO:0007613;memory;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK10	https://www.uniprot.org/uniprot/P57789		https://www.ncbi.nlm.nih.gov/omim/?term=605873	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK10&submit=Quick%0D%2523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK10	rs3825677	0.348442	0.3061	0.2854	1	0	0	intronic	intronic	intronic	KCNK10	KCNK10	ENSG00000100433	Na	Na	Na	Na	Na	Na	Het;A>G	490;13|14	Hom;A>G	255;0|9
N	N	-	14	88693988	88693988	C	T	snp	intronic	 	 	 	 	KCNK10	Kcnk10	ENSG00000100433	potassium two pore domain channel subfamily K member 10	chr14:88649113-88793251	The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]	Neurobehavioral Manifestations; Cholesterol; Neuroblastoma	Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose.	Phase 4 - resting membrane potential	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007165;signal transduction;NAS|GO:0007613;memory;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK10	https://www.uniprot.org/uniprot/P57789		https://www.ncbi.nlm.nih.gov/omim/?term=605873	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK10&submit=Quick%0D%2523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK10	rs2277523	0.6875	0	0	1	0	0	intronic	intronic	intronic	KCNK10	KCNK10	ENSG00000100433	Na	Na	Na	Na	Na	Na	Het;C>T	75;11|5	Hom;C>T	439;0|17
N	N	-	14	88852166	88852166	G	A	snp	nonsynonymous SNV	G4A	D2N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	SPATA7	Spata7	ENSG00000042317	spermatogenesis associated 7	chr14:88851268-88936694	This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]	Severe early-childhood-onset retinal dystrophy	Mice homozygous for a null allele display progressive retinal rod cell degeneration, a thin retinal outer nuclear layer and impaired scotopic responses.		GO:0007601;visual perception;IEA|GO:0045494;photoreceptor cell maintenance;ISS|GO:0050896;response to stimulus;IEA|GO:1903546;protein localization to photoreceptor outer segment;ISS|GO:1903621;protein localization to photoreceptor connecting cilium;ISS|GO:0007601;visual perception;IEA|GO:0045494;photoreceptor cell maintenance;ISS|GO:0050896;response to stimulus;IEA|GO:1903546;protein localization to photoreceptor outer segment;ISS|GO:1903621;protein localization to photoreceptor connecting cilium;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0032391;photoreceptor connecting cilium;ISS|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPATA7	https://www.uniprot.org/uniprot/Q9P0W8	https://hpo.jax.org/app/browse/search?q=SPATA7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609868	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA7&submit=Quick%0D%71ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA7	rs4904448	0.189896	0.2947	0.3737	0.23	3	13	exonic	exonic	exonic	SPATA7	SPATA7	ENSG00000042317	nonsynonymous SNV	nonsynonymous SNV	unknown	SPATA7:NM_001040428:exon1:c.G4A:p.D2N,SPATA7:NM_018418:exon1:c.G4A:p.D2N,	SPATA7:uc001xwr.3:exon1:c.G4A:p.D2N,SPATA7:uc001xwq.3:exon1:c.G4A:p.D2N,	UNKNOWN	Het;G>A	196;23|12	Hom;G>A	1170;0|44
N	N	-	14	89016855	89016855	G	T	snp	UTR5	-49168C>A	 	 	 	PTPN21	Ptpn21	ENSG00000070778	protein tyrosine phosphatase, non-receptor type 21	chr14:88932122-89021077	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]	Graves' disease; Chronic renal failure|Kidney Failure, Chronic; Cell Transformation, Neoplastic|Colorectal Neoplasms|Microsatellite Instability	 		GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;TAS	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPN21	https://www.uniprot.org/uniprot/Q16825		https://www.ncbi.nlm.nih.gov/omim/?term=603271	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN21&submit=Quick%0D%1374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN21	rs2896079	0.192492	0	0	1	0	0	UTR5	UTR5	UTR5	PTPN21(NM_007039:c.-94C>A)	PTPN21(uc010twc.2:c.-49168C>A,uc001xwv.4:c.-94C>A,uc010atf.1:c.-94C>A)	ENSG00000070778(ENST00000328736:c.-94C>A,ENST00000556564:c.-94C>A,ENST00000536337:c.-94C>A,ENST00000555243:c.-94C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	248;6|10	Hom;G>T	362;0|13
N	N	-	14	89037482	89037482	C	CAT	indel	intronic	 	 	 	 	ZC3H14	Zc3h14	ENSG00000100722	zinc finger CCCH-type containing 14	chr14:89029253-89079853	The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]	MENTAL RETARDATION AUTOSOMAL RECESSIVE 56	Homozygous knockout results in impaired spatial working memory, enlarged anterior lateral ventricles in the brain, small testes and reduced litter size.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H14	https://www.uniprot.org/uniprot/Q6PJT7	https://hpo.jax.org/app/browse/search?q=ZC3H14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613279	http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H14&submit=Quick%0D%2588ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H14	rs10682918	0.51238	0	0.5929	1	0	0	intronic	intronic	intronic	ZC3H14	ZC3H14	ENSG00000100722	Na	Na	Na	Na	Na	Na	Het;+AT	3507;111|103	Hom;+AT	5252;2|139
N	N	-	14	89042180	89042180	T	G	snp	intronic	 	 	 	 	ZC3H14	Zc3h14	ENSG00000100722	zinc finger CCCH-type containing 14	chr14:89029253-89079853	The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]	MENTAL RETARDATION AUTOSOMAL RECESSIVE 56	Homozygous knockout results in impaired spatial working memory, enlarged anterior lateral ventricles in the brain, small testes and reduced litter size.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H14	https://www.uniprot.org/uniprot/Q6PJT7	https://hpo.jax.org/app/browse/search?q=ZC3H14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613279	http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H14&submit=Quick%0D%2588ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H14	rs1469602	0.485823	0.5925	0.6188	1	0	0	intronic	intronic	intronic	ZC3H14	ZC3H14	ENSG00000100722	Na	Na	Na	Na	Na	Na	Het;T>G	696;13|25	Hom;T>G	1347;0|47
N	N	-	14	89105287	89105287	T	A	snp	intronic	 	 	 	 	EML5	Eml5	ENSG00000165521	echinoderm microtubule associated protein like 5	chr14:89078775-89259096		Potassium	 		GO:0008150;biological_process;ND	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA|GO:0008017;microtubule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/EML5				http://www.informatics.jax.org/searchtool/Search.do?query=EML5&submit=Quick%0D%11561ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EML5	rs1152383	0.500799	0.6121	0.6373	1	0	0	intronic	intronic	intronic	EML5	EML5	ENSG00000165521	Na	Na	Na	Na	Na	Na	Het;T>A	86;2|5	Hom;T>A	346;0|14
N	N	-	14	89647297	89647297	T	TAC	indel	intronic	 	 	 	 	FOXN3	Foxn3	ENSG00000053254	forkhead box N3	chr14:89591215-90085493	This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]	Body Height; Breath Tests; Tobacco Use Disorder; Body Composition; Heart Failure; Body Mass Index; Cleft Lip|Cleft Palate; Cholesterol; Myocardial Infarction; Sleep	Hypomorphic homozygous knockout affects the expression of osteogenic genes and leads to craniofacial abnormalities and reduces pre- and postnatal survival.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007095;mitotic G2 DNA damage checkpoint;IGI|GO:0030154;cell differentiation;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IBA|GO:0097094;craniofacial suture morphogenesis;IEA	GO:0005634;nucleus;IBA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0043565;sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/FOXN3	https://www.uniprot.org/uniprot/O00409		https://www.ncbi.nlm.nih.gov/omim/?term=602628	http://www.informatics.jax.org/searchtool/Search.do?query=FOXN3&submit=Quick%0D%954ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXN3	rs10692634	0.65595	0	0	1	0	0	intronic	intronic	intronic	FOXN3	FOXN3	ENSG00000053254	Na	Na	Na	Na	Na	Na	Het;+AC	125;1|5	Hom;+AC	36;0|2
N	N	-	14	90390948	90390948	A	G	snp	UTR3	*55T>C	 	 	 	EFCAB11	Efcab11	ENSG00000140025	EF-hand calcium binding domain 11	chr14:90261013-90421121		Creatinine; Behcet Syndrome; Carcinoma, Hepatocellular	 				GO:0005509;calcium ion binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB11	https://www.uniprot.org/uniprot/Q9BUY7			http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB11&submit=Quick%0D%7971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB11	rs12100727	0.254393	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	EFCAB11(NM_001284266:c.*55T>C,NM_001284268:c.*55T>C)	EFCAB11(uc001xxw.2:c.*55T>C,uc001xxx.2:c.*55T>C)	ENSG00000259053	Na	Na	Na	Na	Na	Na	Het;A>G	395;16|17	Hom;A>G	1192;0|44
N	N	-	14	90390968	90390968	T	A	snp	UTR3	*35A>T	 	 	 	EFCAB11	Efcab11	ENSG00000140025	EF-hand calcium binding domain 11	chr14:90261013-90421121		Creatinine; Behcet Syndrome; Carcinoma, Hepatocellular	 				GO:0005509;calcium ion binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB11	https://www.uniprot.org/uniprot/Q9BUY7			http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB11&submit=Quick%0D%7971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB11	rs12101251	0.254393	0	0.2654	1	0	0	UTR3	UTR3	ncRNA_intronic	EFCAB11(NM_001284266:c.*35A>T,NM_001284268:c.*35A>T)	EFCAB11(uc001xxw.2:c.*35A>T,uc001xxx.2:c.*35A>T)	ENSG00000259053	Na	Na	Na	Na	Na	Na	Het;T>A	557;19|28	Hom;T>A	1684;0|62
N	N	-	14	90391072	90391072	T	G	snp	ncRNA_intronic	 	 	 	 	AL137230.2																		rs11159940	0.254393	0	0	1	0	0	intronic	intronic	ncRNA_intronic	EFCAB11	EFCAB11	ENSG00000259053	Na	Na	Na	Na	Na	Na	Het;T>G	835;10|36	Hom;T>G	1684;0|60
N	N	-	14	90398834	90398834	A	AT	indel	ncRNA_intronic	 	 	 	 	AL137230.2																		rs3833988	0.254792	0.1680	0.2044	1	0	0	intronic	intronic	ncRNA_intronic	EFCAB11	EFCAB11	ENSG00000259053	Na	Na	Na	Na	Na	Na	Het;+T	366;20|18	Hom;+T	612;0|23
N	N	-	14	90398907	90398907	G	A	snp	synonymous SNV	C210T	N70N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	EFCAB11	Efcab11	ENSG00000140025	EF-hand calcium binding domain 11	chr14:90261013-90421121		Creatinine; Behcet Syndrome; Carcinoma, Hepatocellular	 				GO:0005509;calcium ion binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB11	https://www.uniprot.org/uniprot/Q9BUY7			http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB11&submit=Quick%0D%7971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB11	rs8778	0.254992	0.1691	0.1967	1	0	0	exonic	exonic	exonic	EFCAB11	EFCAB11	ENSG00000140025	synonymous SNV	synonymous SNV	unknown	EFCAB11:NM_001284267:exon4:c.C138T:p.N46N,EFCAB11:NM_001284266:exon4:c.C282T:p.N94N,EFCAB11:NM_145231:exon4:c.C282T:p.N94N,EFCAB11:NM_001284268:exon4:c.C210T:p.N70N,EFCAB11:NM_001284269:exon4:c.C210T:p.N70N,	EFCAB11:uc001xxw.2:exon4:c.C210T:p.N70N,EFCAB11:uc001xxx.2:exon4:c.C282T:p.N94N,EFCAB11:uc001xxt.3:exon4:c.C282T:p.N94N,EFCAB11:uc001xxs.3:exon4:c.C210T:p.N70N,	UNKNOWN	Het;G>A	857;32|43	Hom;G>A	1364;0|48
N	N	-	14	90399058	90399058	T	C	snp	ncRNA_intronic	 	 	 	 	AL137230.2																		rs3752966	0.254992	0	0	1	0	0	intronic	intronic	ncRNA_intronic	EFCAB11	EFCAB11	ENSG00000259053	Na	Na	Na	Na	Na	Na	Het;T>C	289;4|13	Hom;T>C	512;0|16
N	N	-	14	90422211	90422211	G	A	snp	upstream	 	 	 	 	TDP1	Tdp1	ENSG00000042088	tyrosyl-DNA phosphodiesterase 1	chr14:90421283-90511106	The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]	Colorectal Neoplasms|; irinotecan	Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.	Nonhomologous End-Joining (NHEJ)	GO:0000012;single strand break repair;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017005;3'-tyrosyl-DNA phosphodiesterase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TDP1	https://www.uniprot.org/uniprot/Q9NUW8	https://hpo.jax.org/app/browse/search?q=TDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607198	http://www.informatics.jax.org/searchtool/Search.do?query=TDP1&submit=Quick%0D%831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDP1	rs2181599	0.134784	0	0	1	0	0	upstream	upstream	intronic	TDP1	TDP1	ENSG00000042088	Na	Na	Na	Na	Na	Na	Het;G>A	234;14|14	Hom;G>A	749;0|30
N	N	-	14	90422264	90422264	G	GGCC	indel	UTR5	-7195G>GGCC	 	 	 	TDP1	Tdp1	ENSG00000042088	tyrosyl-DNA phosphodiesterase 1	chr14:90421283-90511106	The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]	Colorectal Neoplasms|; irinotecan	Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.	Nonhomologous End-Joining (NHEJ)	GO:0000012;single strand break repair;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017005;3'-tyrosyl-DNA phosphodiesterase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TDP1	https://www.uniprot.org/uniprot/Q9NUW8	https://hpo.jax.org/app/browse/search?q=TDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607198	http://www.informatics.jax.org/searchtool/Search.do?query=TDP1&submit=Quick%0D%831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDP1	rs35210768	0.134784	0	0	1	0	0	UTR5	UTR5	UTR5	TDP1(NM_018319:c.-7195G>GGCC,NM_001008744:c.-7195G>GGCC)	TDP1(uc001xxy.3:c.-7195G>GGCC,uc001xxz.3:c.-7195G>GGCC,uc010atn.3:c.-7195G>GGCC,uc001xya.3:c.-15278G>GGCC)	ENSG00000042088(ENST00000393452:c.-7195G>GGCC,ENST00000554180:c.-7195G>GGCC)	Na	Na	Na	Na	Na	Na	Het;+GCC	691;23|19	Hom;+GCC	1988;0|45
N	N	-	14	90422382	90422382	T	G	snp	UTR5	-7077T>G	 	 	 	TDP1	Tdp1	ENSG00000042088	tyrosyl-DNA phosphodiesterase 1	chr14:90421283-90511106	The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]	Colorectal Neoplasms|; irinotecan	Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.	Nonhomologous End-Joining (NHEJ)	GO:0000012;single strand break repair;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017005;3'-tyrosyl-DNA phosphodiesterase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TDP1	https://www.uniprot.org/uniprot/Q9NUW8	https://hpo.jax.org/app/browse/search?q=TDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607198	http://www.informatics.jax.org/searchtool/Search.do?query=TDP1&submit=Quick%0D%831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDP1	rs28736874	0.18111	0	0	1	0	0	intronic	intronic	UTR5	TDP1	TDP1	ENSG00000042088(ENST00000556867:c.-7077T>G,ENST00000553527:c.-7077T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	248;5|7	Hom;T>G	777;0|19
N	N	-	14	90422397	90422397	A	G	snp	UTR5	-7062A>G	 	 	 	TDP1	Tdp1	ENSG00000042088	tyrosyl-DNA phosphodiesterase 1	chr14:90421283-90511106	The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]	Colorectal Neoplasms|; irinotecan	Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.	Nonhomologous End-Joining (NHEJ)	GO:0000012;single strand break repair;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017005;3'-tyrosyl-DNA phosphodiesterase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TDP1	https://www.uniprot.org/uniprot/Q9NUW8	https://hpo.jax.org/app/browse/search?q=TDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607198	http://www.informatics.jax.org/searchtool/Search.do?query=TDP1&submit=Quick%0D%831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDP1	rs2277518	0.339257	0	0	1	0	0	intronic	intronic	UTR5	TDP1	TDP1	ENSG00000042088(ENST00000556867:c.-7062A>G,ENST00000553527:c.-7062A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	215;1|6	Hom;A>G	696;0|15
N	N	-	14	90422871	90422871	C	T	snp	UTR5	-6588C>T	 	 	 	TDP1	Tdp1	ENSG00000042088	tyrosyl-DNA phosphodiesterase 1	chr14:90421283-90511106	The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]	Colorectal Neoplasms|; irinotecan	Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.	Nonhomologous End-Joining (NHEJ)	GO:0000012;single strand break repair;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017005;3'-tyrosyl-DNA phosphodiesterase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TDP1	https://www.uniprot.org/uniprot/Q9NUW8	https://hpo.jax.org/app/browse/search?q=TDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607198	http://www.informatics.jax.org/searchtool/Search.do?query=TDP1&submit=Quick%0D%831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDP1	rs28422802	0.339257	0	0	1	0	0	intronic	intronic	UTR5	TDP1	TDP1	ENSG00000042088(ENST00000553989:c.-6588C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	178;11|10	Hom;C>T	224;0|9
N	N	-	14	90422908	90422908	C	A	snp	UTR5	-6551C>A	 	 	 	TDP1	Tdp1	ENSG00000042088	tyrosyl-DNA phosphodiesterase 1	chr14:90421283-90511106	The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]	Colorectal Neoplasms|; irinotecan	Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.	Nonhomologous End-Joining (NHEJ)	GO:0000012;single strand break repair;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017005;3'-tyrosyl-DNA phosphodiesterase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TDP1	https://www.uniprot.org/uniprot/Q9NUW8	https://hpo.jax.org/app/browse/search?q=TDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607198	http://www.informatics.jax.org/searchtool/Search.do?query=TDP1&submit=Quick%0D%831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDP1	rs28365055	0.339657	0	0	1	0	0	intronic	intronic	UTR5	TDP1	TDP1	ENSG00000042088(ENST00000553989:c.-6551C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	218;16|12	Hom;C>A	454;0|17
N	N	-	14	90528066	90528071	GCCGCC	G	indel	upstream	 	 	 	 	KCNK13	Kcnk13	ENSG00000152315	potassium two pore domain channel subfamily K member 13	chr14:90528109-90652201	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]	Tobacco Use Disorder; Triglycerides	Homozygous knockout reduces the surveillance activity of microglial cells in the brain.	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK13	https://www.uniprot.org/uniprot/Q9HB14		https://www.ncbi.nlm.nih.gov/omim/?term=607367	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK13&submit=Quick%0D%9534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK13	Na	0	0	0	1	0	0	upstream	upstream	upstream	KCNK13	KCNK13	ENSG00000152315	Na	Na	Na	Na	Na	Na	Het;-CCGCC	120;2|4	Hom;-CCGCC	143;0|4
N	N	-	14	90528797	90528797	G	A	snp	nonsynonymous SNV	G248A	R83Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	KCNK13	Kcnk13	ENSG00000152315	potassium two pore domain channel subfamily K member 13	chr14:90528109-90652201	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]	Tobacco Use Disorder; Triglycerides	Homozygous knockout reduces the surveillance activity of microglial cells in the brain.	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK13	https://www.uniprot.org/uniprot/Q9HB14		https://www.ncbi.nlm.nih.gov/omim/?term=607367	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK13&submit=Quick%0D%9534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK13	rs7157583	0.101438	0.0819	0.0878	0.08	1	12	exonic	exonic	exonic	KCNK13	KCNK13	ENSG00000152315	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNK13:NM_022054:exon1:c.G248A:p.R83Q,	KCNK13:uc001xye.1:exon1:c.G248A:p.R83Q,	UNKNOWN	Het;G>A	449;12|22	Hom;G>A	860;1|36
N	N	-	14	90923261	90923261	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00642																		rs9323851	0.70008	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00642	LINC00642	ENSG00000233208	Na	Na	Na	Na	Na	Na	Het;G>A	114;2|6	Hom;G>A	270;0|9
N	N	-	14	90953698	90953698	G	A	snp	intergenic	 	 	 	 	LINC00642																		rs8003325	0.451677	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00642(dist=28449),TTC7B(dist=53234)	LINC00642(dist=28449),TTC7B(dist=53234)	ENSG00000233208(dist=28449),ENSG00000259789(dist=1658)	Na	Na	Na	Na	Na	Na	Het;G>A	127;12|8	Hom;G>A	755;0|31
N	N	-	14	91763637	91763637	C	T	snp	intronic	 	 	 	 	CCDC88C	Ccdc88c	ENSG00000015133	coiled-coil domain containing 88C	chr14:91737667-91884188	This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]	Waist Circumference; Insulin Resistance; Body Mass Index; Insulin	 	Negative regulation of TCF-dependent signaling by DVL-interacting proteins	GO:0001932;regulation of protein phosphorylation;ISS|GO:0016055;Wnt signaling pathway;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;IBA|GO:0031098;stress-activated protein kinase signaling cascade;IMP|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0031648;protein destabilization;ISS|GO:0051260;protein homooligomerization;ISS	GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IBA	GO:0008017;microtubule binding;IBA|GO:0030165;PDZ domain binding;ISS|GO:0043621;protein self-association;ISS|GO:0051959;dynein light intermediate chain binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC88C	https://www.uniprot.org/uniprot/Q9P219	https://hpo.jax.org/app/browse/search?q=CCDC88C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611204	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC88C&submit=Quick%0D%614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC88C	rs3742656	0.49401	0.5863	0.5304	1	0	0	intronic	intronic	intronic	CCDC88C	CCDC88C	ENSG00000015133	Na	Na	Na	Na	Na	Na	Het;C>T	1056;80|56	Hom;C>T	3056;0|115
N	N	-	14	91773568	91773568	T	C	snp	synonymous SNV	A3009G	L1003L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCDC88C	Ccdc88c	ENSG00000015133	coiled-coil domain containing 88C	chr14:91737667-91884188	This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]	Waist Circumference; Insulin Resistance; Body Mass Index; Insulin	 	Negative regulation of TCF-dependent signaling by DVL-interacting proteins	GO:0001932;regulation of protein phosphorylation;ISS|GO:0016055;Wnt signaling pathway;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;IBA|GO:0031098;stress-activated protein kinase signaling cascade;IMP|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0031648;protein destabilization;ISS|GO:0051260;protein homooligomerization;ISS	GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IBA	GO:0008017;microtubule binding;IBA|GO:0030165;PDZ domain binding;ISS|GO:0043621;protein self-association;ISS|GO:0051959;dynein light intermediate chain binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC88C	https://www.uniprot.org/uniprot/Q9P219	https://hpo.jax.org/app/browse/search?q=CCDC88C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611204	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC88C&submit=Quick%0D%614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC88C	rs1970912	0.480431	0.5794	0.5336	1	0	0	exonic	exonic	exonic	CCDC88C	CCDC88C	ENSG00000015133	synonymous SNV	synonymous SNV	unknown	CCDC88C:NM_001080414:exon18:c.A3009G:p.L1003L,	CCDC88C:uc010aty.3:exon18:c.A3009G:p.L1003L,	UNKNOWN	Het;T>C	862;35|38	Hom;T>C	2076;0|72
N	N	-	14	92856473	92856474	CG	C	indel	intronic	 	 	 	 	SLC24A4	Slc24a4	ENSG00000140090	solute carrier family 24 member 4	chr14:92788925-92962596	This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]	Black vs blond hair color; Skin Neoplasms; Diabetes Mellitus, Type 2; Hypertension; Blue vs green eyes; melanoma; Tobacco Use Disorder; Blond vs brown hair color; Audiometry, Pure-Tone	Mice homozygous for a knock-out allele exhibit impaired olfactory response and reduced weight.	Sodium/Calcium exchangers	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0007608;sensory perception of smell;IBA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0097186;amelogenesis;ISS	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IBA|GO:0008273;calcium, potassium:sodium antiporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0030955;potassium ion binding;IBA|GO:0031402;sodium ion binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC24A4	https://www.uniprot.org/uniprot/Q8NFF2	https://hpo.jax.org/app/browse/search?q=SLC24A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609840	http://www.informatics.jax.org/searchtool/Search.do?query=SLC24A4&submit=Quick%0D%7977ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC24A4	rs34129936	0.373003	0	0	1	0	0	intronic	intronic	intronic	SLC24A4	SLC24A4	ENSG00000140090	Na	Na	Na	Na	Na	Na	Het;-G	85;3|4	Hom;-G	213;0|7
N	N	-	14	93118669	93118669	G	A	snp	synonymous SNV	G1050A	T350T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RIN3	Rin3	ENSG00000100599	Ras and Rab interactor 3	chr14:92980118-93155339	Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Hemoglobins; smoking cessation; Tobacco Use Disorder; Paget's disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;NAS|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIN3	https://www.uniprot.org/uniprot/Q8TB24		https://www.ncbi.nlm.nih.gov/omim/?term=610223	http://www.informatics.jax.org/searchtool/Search.do?query=RIN3&submit=Quick%0D%2564ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN3	rs3742716	0.238419	0.2359	0.3126	1	0	0	exonic	exonic	exonic	RIN3	RIN3	ENSG00000100599	synonymous SNV	synonymous SNV	unknown	RIN3:NM_024832:exon6:c.G1275A:p.T425T,	RIN3:uc001yaq.3:exon5:c.G1050A:p.T350T,RIN3:uc010auk.3:exon5:c.G261A:p.T87T,RIN3:uc001yar.1:exon1:c.G261A:p.T87T,RIN3:uc001yap.3:exon6:c.G1275A:p.T425T,RIN3:uc001yas.1:exon1:c.G261A:p.T87T,	UNKNOWN	Het;G>A	1808;81|87	Hom;G>A	3682;0|135
N	N	-	14	93142637	93142637	G	A	snp	intronic	 	 	 	 	RIN3	Rin3	ENSG00000100599	Ras and Rab interactor 3	chr14:92980118-93155339	Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Hemoglobins; smoking cessation; Tobacco Use Disorder; Paget's disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;NAS|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIN3	https://www.uniprot.org/uniprot/Q8TB24		https://www.ncbi.nlm.nih.gov/omim/?term=610223	http://www.informatics.jax.org/searchtool/Search.do?query=RIN3&submit=Quick%0D%2564ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN3	rs2273924	0.265375	0	0	1	0	0	intronic	intronic	intronic	RIN3	RIN3	ENSG00000100599	Na	Na	Na	Na	Na	Na	Het;G>A	50;2|2	Hom;G>A	242;0|6
N	N	-	14	93142645	93142645	T	C	snp	intronic	 	 	 	 	RIN3	Rin3	ENSG00000100599	Ras and Rab interactor 3	chr14:92980118-93155339	Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Hemoglobins; smoking cessation; Tobacco Use Disorder; Paget's disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;NAS|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIN3	https://www.uniprot.org/uniprot/Q8TB24		https://www.ncbi.nlm.nih.gov/omim/?term=610223	http://www.informatics.jax.org/searchtool/Search.do?query=RIN3&submit=Quick%0D%2564ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN3	rs2273923	0.267772	0	0	1	0	0	intronic	intronic	intronic	RIN3	RIN3	ENSG00000100599	Na	Na	Na	Na	Na	Na	Het;T>C	50;2|2	Hom;T>C	242;0|6
N	N	-	14	93143047	93143047	G	A	snp	intronic	 	 	 	 	RIN3	Rin3	ENSG00000100599	Ras and Rab interactor 3	chr14:92980118-93155339	Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Hemoglobins; smoking cessation; Tobacco Use Disorder; Paget's disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;NAS|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIN3	https://www.uniprot.org/uniprot/Q8TB24		https://www.ncbi.nlm.nih.gov/omim/?term=610223	http://www.informatics.jax.org/searchtool/Search.do?query=RIN3&submit=Quick%0D%2564ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN3	rs12886618	0.266973	0	0	1	0	0	intronic	intronic	intronic	RIN3	RIN3	ENSG00000100599	Na	Na	Na	Na	Na	Na	Het;G>A	655;26|27	Hom;G>A	1360;0|52
N	N	-	14	93154537	93154540	TGGC	T	indel	nonframeshift substitution	2673_2676T	 	 	 	RIN3	Rin3	ENSG00000100599	Ras and Rab interactor 3	chr14:92980118-93155339	Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Hemoglobins; smoking cessation; Tobacco Use Disorder; Paget's disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;NAS|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIN3	https://www.uniprot.org/uniprot/Q8TB24		https://www.ncbi.nlm.nih.gov/omim/?term=610223	http://www.informatics.jax.org/searchtool/Search.do?query=RIN3&submit=Quick%0D%2564ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN3	rs570458246	0	0.7078	0.6674	1	0	0	exonic	exonic	exonic	RIN3	RIN3	ENSG00000100599	nonframeshift substitution	nonframeshift substitution	unknown	RIN3:NM_024832:exon10:c.2898_2901T,	RIN3:uc001yaq.3:exon9:c.2673_2676T,RIN3:uc010auk.3:exon9:c.1884_1887T,RIN3:uc001yap.3:exon10:c.2898_2901T,	UNKNOWN	Het;-GGC	1555;29|40	Hom;-GGC	1522;0|36
N	N	-	14	93649501	93649501	A	G	snp	UTR3	*31T>C	 	 	 	MOAP1	Moap1	ENSG00000278268	modulator of apoptosis 1	chr14:93648541-93651273	The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008]		Homozygous knockout mice show decreased sensitivity to Fas-mediated mitochondrial apoptosis of hepatocytes.		GO:0001844;protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;IMP|GO:0006915;apoptotic process;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IMP|GO:0097190;apoptotic signaling pathway;IDA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IMP	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MOAP1			https://www.ncbi.nlm.nih.gov/omim/?term=609485	http://www.informatics.jax.org/searchtool/Search.do?query=MOAP1&submit=Quick%0D%22004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOAP1	rs1046099	0.694089	0.7004	0.6804	1	0	0	UTR3	UTR3	UTR3	MOAP1(NM_022151:c.*31T>C)	MOAP1(uc001ybj.3:c.*31T>C)	ENSG00000165943(ENST00000298894:c.*31T>C,ENST00000556883:c.*31T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	198;10|11	Hom;A>G	1094;0|40
N	N	-	14	94063949	94063949	C	T	snp	intronic	 	 	 	 	UNC79	Unc79	ENSG00000276416	unc-79 homolog, NALCN channel complex subunit	chr14:93799565-94174222	The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Blood Pressure	Homozygous mutation results in lethality within the first week after birth, mostly at P0 or P1. Pups fail to nurse and have no milk in stomachs resulting in weakness, inactivity and no weight gain.	Stimuli-sensing channels	GO:0034220;ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/UNC79	https://www.uniprot.org/uniprot/Q9P2D8		https://www.ncbi.nlm.nih.gov/omim/?term=616884	http://www.informatics.jax.org/searchtool/Search.do?query=UNC79&submit=Quick%0D%21600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC79	rs11160132	0.533546	0	0	1	0	0	intronic	intronic	intronic	UNC79	UNC79	ENSG00000133958	Na	Na	Na	Na	Na	Na	Het;C>T	345;9|16	Hom;C>T	441;0|15
N	N	-	14	94097287	94097287	G	A	snp	intronic	 	 	 	 	UNC79	Unc79	ENSG00000276416	unc-79 homolog, NALCN channel complex subunit	chr14:93799565-94174222	The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Blood Pressure	Homozygous mutation results in lethality within the first week after birth, mostly at P0 or P1. Pups fail to nurse and have no milk in stomachs resulting in weakness, inactivity and no weight gain.	Stimuli-sensing channels	GO:0034220;ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/UNC79	https://www.uniprot.org/uniprot/Q9P2D8		https://www.ncbi.nlm.nih.gov/omim/?term=616884	http://www.informatics.jax.org/searchtool/Search.do?query=UNC79&submit=Quick%0D%21600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC79	rs2148563	0.679712	0.7501	0.6814	1	0	0	intronic	intronic	intronic	UNC79	UNC79	ENSG00000133958	Na	Na	Na	Na	Na	Na	Het;G>A	1507;64|71	Hom;G>A	3407;0|128
N	N	-	14	94103602	94103602	G	A	snp	synonymous SNV	G5409A	T1803T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	UNC79	Unc79	ENSG00000276416	unc-79 homolog, NALCN channel complex subunit	chr14:93799565-94174222	The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Blood Pressure	Homozygous mutation results in lethality within the first week after birth, mostly at P0 or P1. Pups fail to nurse and have no milk in stomachs resulting in weakness, inactivity and no weight gain.	Stimuli-sensing channels	GO:0034220;ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/UNC79	https://www.uniprot.org/uniprot/Q9P2D8		https://www.ncbi.nlm.nih.gov/omim/?term=616884	http://www.informatics.jax.org/searchtool/Search.do?query=UNC79&submit=Quick%0D%21600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC79	rs4905082	0.505192	0.5780	0.6074	1	0	0	exonic	exonic	exonic	UNC79	UNC79	ENSG00000133958	synonymous SNV	synonymous SNV	unknown	UNC79:NM_020818:exon33:c.G5343A:p.T1781T,	UNC79:uc001ybv.1:exon31:c.G5409A:p.T1803T,UNC79:uc001ybs.1:exon33:c.G5343A:p.T1781T,	UNKNOWN	Het;G>A	1862;93|93	Hom;G>A	4144;0|158
N	N	-	14	94109829	94109829	G	A	snp	intronic	 	 	 	 	UNC79	Unc79	ENSG00000276416	unc-79 homolog, NALCN channel complex subunit	chr14:93799565-94174222	The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Blood Pressure	Homozygous mutation results in lethality within the first week after birth, mostly at P0 or P1. Pups fail to nurse and have no milk in stomachs resulting in weakness, inactivity and no weight gain.	Stimuli-sensing channels	GO:0034220;ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/UNC79	https://www.uniprot.org/uniprot/Q9P2D8		https://www.ncbi.nlm.nih.gov/omim/?term=616884	http://www.informatics.jax.org/searchtool/Search.do?query=UNC79&submit=Quick%0D%21600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC79	rs943318	0.538139	0	0	1	0	0	intronic	intronic	intronic	UNC79	UNC79	ENSG00000133958	Na	Na	Na	Na	Na	Na	Het;G>A	448;42|21	Hom;G>A	1304;0|46
N	N	-	14	94160611	94160611	G	A	snp	intronic	 	 	 	 	UNC79	Unc79	ENSG00000276416	unc-79 homolog, NALCN channel complex subunit	chr14:93799565-94174222	The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Blood Pressure	Homozygous mutation results in lethality within the first week after birth, mostly at P0 or P1. Pups fail to nurse and have no milk in stomachs resulting in weakness, inactivity and no weight gain.	Stimuli-sensing channels	GO:0034220;ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/UNC79	https://www.uniprot.org/uniprot/Q9P2D8		https://www.ncbi.nlm.nih.gov/omim/?term=616884	http://www.informatics.jax.org/searchtool/Search.do?query=UNC79&submit=Quick%0D%21600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC79	rs960888	0.526358	0	0	1	0	0	intronic	intronic	intronic	UNC79	UNC79	ENSG00000133958	Na	Na	Na	Na	Na	Na	Het;G>A	233;11|10	Hom;G>A	303;0|11
N	N	-	14	94187832	94187832	C	T	snp	synonymous SNV	G420A	S140S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRIMA1	Prima1	ENSG00000274089	proline rich membrane anchor 1	chr14:94184644-94254827	The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]	Pulse; Cardiomegaly	Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors.		GO:0042135;neurotransmitter catabolic process;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRIMA1			https://www.ncbi.nlm.nih.gov/omim/?term=613851	http://www.informatics.jax.org/searchtool/Search.do?query=PRIMA1&submit=Quick%0D%21041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMA1	rs1887197	0.498802	0.5826	0.6032	1	0	0	exonic	exonic	exonic	PRIMA1	PRIMA1	ENSG00000175785	synonymous SNV	synonymous SNV	unknown	PRIMA1:NM_178013:exon5:c.G420A:p.S140S,	PRIMA1:uc001ybw.1:exon5:c.G420A:p.S140S,	UNKNOWN	Het;C>T	959;61|50	Hom;C>T	1996;0|76
N	N	-	14	94245452	94245452	A	G	snp	intronic	 	 	 	 	PRIMA1	Prima1	ENSG00000274089	proline rich membrane anchor 1	chr14:94184644-94254827	The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]	Pulse; Cardiomegaly	Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors.		GO:0042135;neurotransmitter catabolic process;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRIMA1			https://www.ncbi.nlm.nih.gov/omim/?term=613851	http://www.informatics.jax.org/searchtool/Search.do?query=PRIMA1&submit=Quick%0D%21041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMA1	rs34914817	0.25619	0	0	1	0	0	intronic	intronic	intronic	PRIMA1	PRIMA1	ENSG00000175785	Na	Na	Na	Na	Na	Na	Het;A>G	287;11|13	Hom;A>G	484;0|16
N	N	-	14	94245652	94245652	C	T	snp	synonymous SNV	G99A	T33T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRIMA1	Prima1	ENSG00000274089	proline rich membrane anchor 1	chr14:94184644-94254827	The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]	Pulse; Cardiomegaly	Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors.		GO:0042135;neurotransmitter catabolic process;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRIMA1			https://www.ncbi.nlm.nih.gov/omim/?term=613851	http://www.informatics.jax.org/searchtool/Search.do?query=PRIMA1&submit=Quick%0D%21041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMA1	rs4900195	0.363019	0.4509	0.4102	1	0	0	exonic	exonic	exonic	PRIMA1	PRIMA1	ENSG00000175785	synonymous SNV	synonymous SNV	unknown	PRIMA1:NM_178013:exon3:c.G99A:p.T33T,	PRIMA1:uc001ybw.1:exon3:c.G99A:p.T33T,	UNKNOWN	Het;C>T	1151;52|56	Hom;C>T	2357;2|94
N	N	-	14	94369443	94369443	A	G	snp	intergenic	 	 	 	 	PRIMA1	Prima1	ENSG00000274089	proline rich membrane anchor 1	chr14:94184644-94254827	The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]	Pulse; Cardiomegaly	Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors.		GO:0042135;neurotransmitter catabolic process;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRIMA1			https://www.ncbi.nlm.nih.gov/omim/?term=613851	http://www.informatics.jax.org/searchtool/Search.do?query=PRIMA1&submit=Quick%0D%21041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMA1	rs12433403	0.373602	0	0	1	0	0	intergenic	intergenic	intergenic	PRIMA1(dist=114677),FAM181A-AS1(dist=1633)	PRIMA1(dist=114677),FAM181A-AS1(dist=1633)	ENSG00000175785(dist=114616),ENSG00000258584(dist=1633)	Na	Na	Na	Na	Na	Na	Het;A>G	74;5|4	Hom;A>G	153;0|6
N	N	-	14	94371313	94371313	G	GT	indel	ncRNA_exonic	 	 	 	 	FAM181A-AS1																		rs11431044	0.375399	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FAM181A-AS1	FAM181A-AS1	ENSG00000258584	Na	Na	Na	Na	Na	Na	Het;+T	1629;100|75	Hom;+T	4935;0|169
N	N	-	14	94582130	94582130	T	TGGCCATGGC	indel	nonframeshift substitution	125_125delinsTGGCCATGGC	 	 	 	IFI27	Ifi27	ENSG00000275214	interferon alpha inducible protein 27	chr14:94571182-94583033		bladder cancer; Respiratory Syncytial Virus Infections; hepatocellular carcinoma; hepatitis C	Mice homozygous for a knock-out allele exhibit protection from induced restenosis.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFI27			https://www.ncbi.nlm.nih.gov/omim/?term=600009	http://www.informatics.jax.org/searchtool/Search.do?query=IFI27&submit=Quick%0D%21304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI27	rs3064076	0.657748	0.6522	0.6009	1	0	0	exonic;splicing	exonic	exonic	IFI27;IFI27(NM_001130080:exon4:c.122-1T>TGGCCATGGC,NM_001288952:exon5:c.122-1T>TGGCCATGGC,NM_001288956:exon4:c.122-1T>TGGCCATGGC)	IFI27	ENSG00000165949	nonframeshift substitution	nonframeshift substitution	unknown	IFI27:NM_001288954:exon5:c.125_125delinsTGGCCATGGC,IFI27:NM_001288995:exon4:c.125_125delinsTGGCCATGGC,IFI27:NM_001288958:exon4:c.125_125delinsTGGCCATGGC,IFI27:NM_001288957:exon4:c.125_125delinsTGGCCATGGC,IFI27:NM_005532:exon4:c.125_125delinsTGGCCATGGC,	IFI27:uc021sba.1:exon4:c.125_125delinsTGGCCATGGC,	UNKNOWN	Het;+GGCCATGGC	2326;80|63	Hom;+GGCCATGGC	4533;0|102
N	N	-	14	94843818	94843818	A	G	snp	UTR3	*968T>C	 	 	 	SERPINA1	Serpina1e	ENSG00000277377	serpin family A member 1	chr14:94843084-94857030	The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	atherosclerosis; chronic obstructive airways disease.; asthma; alpha(1) antitrypsin deficiency; Hepatitis C, Chronic|Liver Cirrhosis; alphal-antitrypsin deficiency; heart disease, ischemic; cerebrovascular disease, ischemic; fibromuscular dysplasia (FMD); bronchiectasis; common variable immunodeficiency; cirrhosis, alcoholic; Cough|Dyspnea|Pulmonary Disease, Chronic Obstructive; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z; blood pressure; normal variation; Pulmonary Emphysema; COPD; null; pancreatitis, acute pancreatitis, chronic; Atopic asthma. BHR. total IgE. SPT; Asthma|Pulmonary Disease, Chronic Obstructive; Myocardial Infarction; liver disease; Blood Pressure; cystic fibrosis; rheumatoid arthritis; obstructive Pulmonary Disease and Disseminated Bronchiectasis; lung cancer ; Pancreatitis, Alcoholic|Pancreatitis, Chronic; cervical artery dissection, spontaneous; alpha 1-Antitrypsin Deficiency|Lung Diseases, Obstructive; Genetic Diseases, Inborn; PAI-1 levels; Chronic Obstructive Pulmonary Disease; Asthma; alpha 1-Antitrypsin Deficiency|Emphysema; alpha 1-Antitrypsin Deficiency|Liver Diseases; Lung Diseases; lung cancer; Type 2 Diabetes| edema | rosiglitazone; pregnancy loss; Bronchiectasis|Bronchitis|Bronchitis unspecified|Emphysema|Lung Diseases, Obstructive; cystic fibrosis lung disease; sarcoidosis tuberculosis; cardiovascular disease; periodontal disease; chronic obstructive pulmonary disease; alpha 1-Antitrypsin Deficiency; alpha 1-Antitrypsin Deficiency|Aortic Stenosis, Supravalvular|Dislocations|Scoliosis|Williams Syndrome; chronic obstructive pulmonary disease/COPD; Tobacco Use Disorder; alpha 1-Antitrypsin Deficiency|Occupational Diseases|Smoke Inhalation Injury; lung function; Bronchiectasis|Immunologic Deficiency Syndromes; cardiovascular disease; Asbestosis; Nasal Polyps|Rhinitis|Sinusitis; Peyronie's disease; Cystic Fibrosis|Liver Diseases; psoriasis; stroke, ischemic; Airway Obstruction|alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; Serum alpha 1-antitrypsin deficiency; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Pulmonary Disease, Chronic Obstructive; periodontitis; colorectal cancer; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; Coronary Artery Disease|Glomerulonephritis, Membranous|Peripheral Vascular Diseases; Liver Diseases; hemochromatosis; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin deficiency; myocardial infarct; atherosclerosis, coronary; tuberculosis; HIV; Fatty Liver|Iron Overload|Liver Cirrhosis	 			GO:0005615;extracellular space;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SERPINA1		https://hpo.jax.org/app/browse/search?q=SERPINA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107400	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA1&submit=Quick%0D%21819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA1	rs1243166	0.696286	0	0	1	0	0	UTR3	UTR3	UTR3	SERPINA1(NM_001127704:c.*968T>C,NM_001127703:c.*968T>C,NM_001127702:c.*968T>C,NM_001127705:c.*968T>C,NM_001127707:c.*968T>C,NM_001127706:c.*968T>C,NM_000295:c.*968T>C,NM_001127700:c.*968T>C,NM_001127701:c.*968T>C,NM_001002236:c.*968T>C,NM_001002235:c.*968T>C)	SERPINA1(uc001ycx.4:c.*968T>C,uc010auw.3:c.*968T>C,uc010aux.3:c.*968T>C,uc001ycy.4:c.*968T>C,uc010auy.3:c.*968T>C,uc001ycz.4:c.*968T>C,uc010auz.3:c.*968T>C,uc010ava.3:c.*968T>C,uc001ydb.4:c.*968T>C,uc010avb.3:c.*968T>C,uc001ydc.4:c.*968T>C)	ENSG00000197249(ENST00000355814:c.*968T>C,ENST00000437397:c.*968T>C,ENST00000448921:c.*968T>C,ENST00000440909:c.*968T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1101;48|49	Hom;A>G	3398;0|127
N	N	-	14	94912799	94912799	G	A	snp	synonymous SNV	C786T	T262T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SERPINA11	Serpina11	ENSG00000186910	serpin family A member 11	chr14:94908801-94919127		smoking cessation	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINA11				http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA11&submit=Quick%0D%15736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA11	rs12888805	0.259784	0.3162	0.3649	1	0	0	exonic	exonic	exonic	SERPINA11	SERPINA11	ENSG00000186910	synonymous SNV	synonymous SNV	unknown	SERPINA11:NM_001080451:exon3:c.C786T:p.T262T,	SERPINA11:uc001ydd.1:exon3:c.C786T:p.T262T,	UNKNOWN	Het;G>A	1315;74|66	Hom;G>A	2430;0|87
N	N	-	14	94912896	94912896	T	G	snp	nonsynonymous SNV	A689C	E230A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	SERPINA11	Serpina11	ENSG00000186910	serpin family A member 11	chr14:94908801-94919127		smoking cessation	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINA11				http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA11&submit=Quick%0D%15736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA11	rs1885137	0.260383	0.3162	0.3653	0.15	2	13	exonic	exonic	exonic	SERPINA11	SERPINA11	ENSG00000186910	nonsynonymous SNV	nonsynonymous SNV	unknown	SERPINA11:NM_001080451:exon3:c.A689C:p.E230A,	SERPINA11:uc001ydd.1:exon3:c.A689C:p.E230A,	UNKNOWN	Het;T>G	1472;99|75	Hom;T>G	4439;0|161
N	N	-	14	94929708	94929708	C	T	snp	ncRNA_intronic	 	 	 	 	AL132708.1																		rs2208430	0.35024	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SERPINA9	SERPINA9	ENSG00000256357	Na	Na	Na	Na	Na	Na	Het;C>T	188;6|8	Hom;C>T	270;0|9
N	N	-	14	94930956	94930956	T	C	snp	ncRNA_exonic	 	 	 	 	AL132708.1																		rs12891900	0.285144	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SERPINA9	SERPINA9	ENSG00000256357	Na	Na	Na	Na	Na	Na	Het;T>C	117;5|5	Hom;T>C	442;0|17
N	N	-	14	94930980	94930980	A	G	snp	ncRNA_exonic	 	 	 	 	AL132708.1																		rs11628686	0.350639	0	0	1	0	0	intronic	UTR3	ncRNA_exonic	SERPINA9	SERPINA9(uc001ydh.1:c.*55T>C,uc001ydi.1:c.*55T>C)	ENSG00000256357	Na	Na	Na	Na	Na	Na	Het;A>G	172;6|9	Hom;A>G	674;2|28
N	N	-	14	94933709	94933709	C	T	snp	synonymous SNV	G393A	E131E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SERPINA9	Serpina9	ENSG00000170054	serpin family A member 9	chr14:94929054-94946026		smoking cessation; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINA9			https://www.ncbi.nlm.nih.gov/omim/?term=615677	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA9&submit=Quick%0D%12624ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA9	rs6575433	0.346645	0.4411	0.4620	1	0	0	exonic	exonic	exonic	SERPINA9	SERPINA9	ENSG00000170054	synonymous SNV	synonymous SNV	unknown	SERPINA9:NM_001042518:exon4:c.G393A:p.E131E,SERPINA9:NM_175739:exon3:c.G693A:p.E231E,SERPINA9:NM_001284276:exon4:c.G246A:p.E82E,SERPINA9:NM_001284275:exon3:c.G585A:p.E195E,	SERPINA9:uc001yde.3:exon4:c.G393A:p.E131E,SERPINA9:uc001ydi.1:exon3:c.G585A:p.E195E,SERPINA9:uc001ydh.1:exon3:c.G693A:p.E231E,SERPINA9:uc010avc.3:exon4:c.G246A:p.E82E,SERPINA9:uc001ydf.3:exon3:c.G693A:p.E231E,SERPINA9:uc001ydg.3:exon3:c.G585A:p.E195E,	UNKNOWN	Het;C>T	468;18|22	Hom;C>T	1258;0|49
N	N	-	14	95058462	95058462	A	C	snp	synonymous SNV	A1107C	I369I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SERPINA5	Serpina5	ENSG00000188488	serpin family A member 5	chr14:95027779-95059457	The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]	Type 2 Diabetes| edema | rosiglitazone; alpha 1-Antitrypsin Deficiency|Wegener Granulomatosis; infertility, male	Mice homozygous for disruptions in this gene are phenotypically normal with the exception that males are infertile.	Common Pathway of Fibrin Clot Formation	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007283;spermatogenesis;ISS|GO:0007338;single fertilization;IEA|GO:0007342;fusion of sperm to egg plasma membrane;NAS|GO:0007596;blood coagulation;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0051346;negative regulation of hydrolase activity;IMP|GO:0061107;seminal vesicle development;IEA	GO:0002080;acrosomal membrane;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0031091;platelet alpha granule;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0036024;protein C inhibitor-TMPRSS7 complex;IDA|GO:0036025;protein C inhibitor-TMPRSS11E complex;IDA|GO:0036026;protein C inhibitor-PLAT complex;IDA|GO:0036027;protein C inhibitor-PLAU complex;IDA|GO:0036028;protein C inhibitor-thrombin complex;IDA|GO:0036029;protein C inhibitor-KLK3 complex;IDA|GO:0036030;protein C inhibitor-plasma kallikrein complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0097181;protein C inhibitor-coagulation factor V complex;IDA|GO:0097182;protein C inhibitor-coagulation factor Xa complex;IDA|GO:0097183;protein C inhibitor-coagulation factor XI complex;IDA	GO:0001972;retinoic acid binding;IDA|GO:0002020;protease binding;IPI|GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0005539;glycosaminoglycan binding;TAS|GO:0008201;heparin binding;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0031210;phosphatidylcholine binding;IDA|GO:0032190;acrosin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SERPINA5			https://www.ncbi.nlm.nih.gov/omim/?term=601841	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA5&submit=Quick%0D%16042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA5	rs6116	0.279952	0.4262	0.3942	1	0	0	exonic	exonic	exonic	SERPINA5	SERPINA5	ENSG00000188488,ENSG00000273259	synonymous SNV	synonymous SNV	unknown	SERPINA5:NM_000624:exon6:c.A1107C:p.I369I,	SERPINA5:uc001ydm.3:exon6:c.A1107C:p.I369I,	UNKNOWN	Het;A>C	1249;48|57	Hom;A>C	2899;0|102
N	N	-	14	95098067	95098067	T	C	snp	intergenic	 	 	 	 	AL049839.2																		rs10144145	0.743411	0	0	1	0	0	intergenic	intergenic	intergenic	SERPINA3(dist=7677),SERPINA13P(dist=8995)	SERPINA3(dist=7677),SERPINA13P(dist=8995)	ENSG00000273259(dist=7084),ENSG00000258805(dist=1975)	Na	Na	Na	Na	Na	Na	Het;T>C	162;3|6	Hom;T>C	71;0|4
N	N	-	14	95876097	95876097	C	G	snp	ncRNA_exonic	 	 	 	 	LINC00341																		rs3742344	0.181709	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC00341	LINC00341(uc001yeh.4:c.-121G>C)	ENSG00000229645	Na	Na	Na	Na	Na	Na	Het;C>G	592;41|26	Hom;C>G	1393;5|51
N	N	-	14	95876387	95876387	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00341																		rs3742343	0.172524	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC00341	LINC00341(uc001yeh.4:c.-411G>T)	ENSG00000229645	Na	Na	Na	Na	Na	Na	Het;C>A	602;11|25	Hom;C>A	865;0|34
N	N	-	14	96890497	96890497	T	C	snp	ncRNA_exonic	 	 	 	 	PEBP1P1																		rs7148355	0.826478	0	0	1	0	0	intronic	intronic	ncRNA_exonic	AK7	AK7	ENSG00000259059	Na	Na	Na	Na	Na	Na	Het;T>C	162;6|8	Hom;T>C	548;0|19
N	N	-	14	96922752	96922752	C	G	snp	nonsynonymous SNV	C1167G	N389K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	AK7	Ak7	ENSG00000140057	adenylate kinase 7	chr14:96858448-96955764		Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	Homozygous mice exhibit hydrocephalus, rhinitis, sperm defects and most die before 8 weeks of age.	Interconversion of nucleotide di- and triphosphates	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006165;nucleoside diphosphate phosphorylation;IDA|GO:0009142;nucleoside triphosphate biosynthetic process;IDA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0030030;cell projection organization;IEA|GO:0046939;nucleotide phosphorylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004017;adenylate kinase activity;IDA|GO:0004127;cytidylate kinase activity;IDA|GO:0004550;nucleoside diphosphate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019205;nucleobase-containing compound kinase activity;IEA|GO:0019206;nucleoside kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/AK7	https://www.uniprot.org/uniprot/Q96M32	https://hpo.jax.org/app/browse/search?q=AK7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615364	http://www.informatics.jax.org/searchtool/Search.do?query=AK7&submit=Quick%0D%7975ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AK7	rs2369679	0.884585	0.8706	0.8384	0.08	1	13	exonic	exonic	exonic	AK7	AK7	ENSG00000140057	nonsynonymous SNV	nonsynonymous SNV	unknown	AK7:NM_152327:exon11:c.C1167G:p.N389K,	AK7:uc001yfn.3:exon11:c.C1167G:p.N389K,	UNKNOWN	Het;C>G	745;50|39	Hom;C>G	2040;0|71
N	N	-	14	97081288	97081288	T	C	snp	intergenic	 	 	 	 	AL137786.1																		rs234596	0.83127	0	0	1	0	0	intergenic	intergenic	intergenic	PAPOLA(dist=47835),VRK1(dist=182396)	BC035096(dist=19209),VRK1(dist=182396)	ENSG00000258702(dist=19189),ENSG00000223299(dist=23236)	Na	Na	Na	Na	Na	Na	Het;T>C	65;11|5	Hom;T>C	327;0|11
N	N	-	14	97081622	97081622	T	C	snp	intergenic	 	 	 	 	AL137786.1																		rs28608114	0.181909	0	0	1	0	0	intergenic	intergenic	intergenic	PAPOLA(dist=48169),VRK1(dist=182062)	BC035096(dist=19543),VRK1(dist=182062)	ENSG00000258702(dist=19523),ENSG00000223299(dist=22902)	Na	Na	Na	Na	Na	Na	Het;T>C	47;3|2	Hom;T>C	73;0|4
N	N	-	14	98391950	98391950	C	A	snp	ncRNA_exonic	 	 	 	 	LINC01550																		rs2604978	0.501797	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	LINC01550	C14orf64	ENSG00000246223(ENST00000499006:c.*1041G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1556;99|82	Hom;C>A	4462;0|130
N	N	-	14	98392157	98392157	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01550																		rs2776596	0.501997	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	LINC01550	C14orf64	ENSG00000246223(ENST00000499006:c.*834C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	367;7|14	Hom;G>A	487;0|17
N	N	-	14	98393212	98393212	T	C	snp	ncRNA_intronic	 	 	 	 	C14orf64																		rs2604977	0.501797	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	LINC01550	C14orf64	ENSG00000246223	Na	Na	Na	Na	Na	Na	Het;T>C	45;1|3	Hom;T>C	77;0|3
N	N	-	15	100214935	100214935	T	C	snp	intronic	 	 	 	 	MEF2A	Mef2a	ENSG00000068305	myocyte enhancer factor 2A	chr15:100017370-100256671	The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]	Type 2 Diabetes| edema | rosiglitazone; Insulin Resistance|Polycystic Ovary Syndrome; Tobacco Use Disorder; hypertension; Myocardial Infarction; coronary artery disease; atherosclerosis, coronary; Cardiomyopathy, Hypertrophic|Hypertrophy, Left Ventricular; myocardial infarct; Coronary Artery Disease; myocardial infarction; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; blood pressure, arterial; Arteries; Bone Mineral Density; myocardial infarct; atherosclerosis, coronary; heart disease, ischemic	Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart.	CDO in myogenesis	GO:0000002;mitochondrial genome maintenance;ISS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000165;MAPK cascade;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IEP|GO:0007517;muscle organ development;NAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IDA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048311;mitochondrion distribution;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0055005;ventricular cardiac myofibril assembly;ISS|GO:0061337;cardiac conduction;ISS|GO:0070375;ERK5 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA	GO:0000790;nuclear chromatin;ISS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005829;cytosol;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0033613;activating transcription factor binding;IPI|GO:0035035;histone acetyltransferase binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046332;SMAD binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEF2A	https://www.uniprot.org/uniprot/Q02078		https://www.ncbi.nlm.nih.gov/omim/?term=600660	http://www.informatics.jax.org/searchtool/Search.do?query=MEF2A&submit=Quick%0D%1279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEF2A	rs2570930	0.221246	0	0	1	0	0	intronic	intronic	intronic	MEF2A	MEF2A	ENSG00000068305	Na	Na	Na	Na	Na	Na	Het;T>C	108;2|5	Hom;T>C	149;0|5
N	N	-	15	100272337	100272337	A	G	snp	intronic	 	 	 	 	LYSMD4	Lysmd4	ENSG00000183060	LysM domain containing 4	chr15:100255902-100273766		Tobacco Use Disorder	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LYSMD4				http://www.informatics.jax.org/searchtool/Search.do?query=LYSMD4&submit=Quick%0D%14913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYSMD4	rs73466515	0.235823	0	0	1	0	0	intronic	intronic	intronic	LYSMD4	LYSMD4	ENSG00000183060	Na	Na	Na	Na	Na	Na	Het;A>G	190;2|6	Hom;A>G	329;0|9
N	N	-	15	100331819	100331819	A	G	snp	ncRNA_exonic	 	 	 	 	DNM1P46																		rs2958994	0.704872	0.7187	0.6913	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	DNM1P46	NONE(dist=NONE),DQ571121(dist=5793)	ENSG00000182397,ENSG00000259655	Na	Na	Na	Na	Na	Na	Het;A>G	4453;254|213	Hom;A>G	14568;2|399
N	N	-	15	100331961	100331961	A	G	snp	ncRNA_exonic	 	 	 	 	DNM1P46																		rs1809156	0.48742	0.4187	0.4341	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	DNM1P46	NONE(dist=NONE),DQ571121(dist=5651)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;A>G	1682;91|75	Hom;A>G	4388;0|154
N	N	-	15	100332877	100332877	T	C	snp	ncRNA_exonic	 	 	 	 	DNM1P46																		rs6598274	0	0	0.3395	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	DNM1P46	NONE(dist=NONE),DQ571121(dist=4735)	ENSG00000182397,ENSG00000259655	Na	Na	Na	Na	Na	Na	Het;T>C	1664;131|81	Hom;T>C	4910;0|181
N	N	-	15	100332919	100332919	T	C	snp	ncRNA_exonic	 	 	 	 	DNM1P46																		rs2603217	0	0	0.6267	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	DNM1P46	NONE(dist=NONE),DQ571121(dist=4693)	ENSG00000182397,ENSG00000259655	Na	Na	Na	Na	Na	Na	Het;T>C	1627;112|76	Hom;T>C	3527;0|120
N	N	-	15	100333371	100333371	C	T	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs7162273	0.605431	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=4241)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;C>T	2908;111|140	Hom;C>T	6050;0|227
N	N	-	15	100333435	100333435	A	C	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs3883017	0.769968	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=4177)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;A>C	2177;87|88	Hom;A>C	5843;0|189
N	N	-	15	100333593	100333593	G	A	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs3883018	0.676518	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=4019)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;G>A	2926;152|137	Hom;G>A	8141;0|296
N	N	-	15	100333805	100333805	C	A	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs1963486	0.676518	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=3807)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;C>A	1785;91|80	Hom;C>A	4106;0|148
N	N	-	15	100333913	100333913	G	A	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs11247128	0.534944	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=3699)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;G>A	903;40|42	Hom;G>A	2253;0|77
N	N	-	15	100333956	100333956	T	A	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs62040188	0.675519	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=3656)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;T>A	1731;52|45	Hom;T>A	3364;0|76
N	N	-	15	100333958	100333958	C	T	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs75958203	0.675519	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=3654)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;C>T	1731;53|45	Hom;C>T	3399;0|75
N	N	-	15	100333959	100333959	A	G	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs77631651	0.675519	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=3653)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;A>G	1731;53|45	Hom;A>G	3374;0|77
N	N	-	15	100334185	100334185	A	G	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs3883019	0.605631	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=3427)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;A>G	1032;44|41	Hom;A>G	3329;0|111
N	N	-	15	100334366	100334366	A	C	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs1963487	0.474641	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=3246)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;A>C	1385;53|60	Hom;A>C	3873;0|129
N	N	-	15	100335018	100335018	A	C	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs75721554	0.465056	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=2594)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;A>C	1070;72|56	Hom;A>C	1957;0|73
N	N	-	15	100336201	100336201	A	G	snp	ncRNA_intronic	 	 	 	 	DNM1P46																		rs56304508	0.523363	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	DNM1P46	NONE(dist=NONE),DQ571121(dist=1411)	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;A>G	445;22|22	Hom;A>G	1849;0|65
N	N	-	15	100337323	100337323	G	T	snp	downstream	 	 	 	 	DQ571121																		rs2924785	0.678115	0	0	1	0	0	ncRNA_intronic	downstream	ncRNA_intronic	DNM1P46	DQ571121	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;G>T	187;21|10	Hom;G>T	340;0|12
N	N	-	15	100339432	100339432	T	G	snp	upstream;downstream	 	 	 	 	DQ575742																		rs6598275	0.76857	0	0	1	0	0	ncRNA_intronic	upstream;downstream	ncRNA_intronic	DNM1P46	DQ575742,DQ595494;DNM1P46,DQ590616	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;T>G	324;24|14	Hom;T>G	899;0|31
N	N	-	15	100339709	100339709	G	A	snp	upstream;downstream	 	 	 	 	DQ575741																		rs8027068	0.768171	0	0	1	0	0	ncRNA_intronic	upstream;downstream	ncRNA_intronic	DNM1P46	DQ575741,DQ575742,DQ590616,DQ595494;DNM1P46	ENSG00000182397	Na	Na	Na	Na	Na	Na	Het;G>A	167;8|7	Hom;G>A	270;0|9
N	N	-	15	100340375	100340375	A	G	snp	nonsynonymous SNV	T245C	V82A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DNM1P46																		rs2924765	0.764976	0.7693	0.6974	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	DNM1P46	DNM1P46	ENSG00000182397	Na	nonsynonymous SNV	Na	Na	DNM1P46:uc010bow.3:exon3:c.T245C:p.V82A,	Na	Het;A>G	481;5|21	Hom;A>G	989;0|34
N	N	-	15	100695347	100695347	T	C	snp	intronic	 	 	 	 	ADAMTS17	Adamts17	ENSG00000140470	ADAM metallopeptidase with thrombospondin type 1 motif 17	chr15:100511794-100882210	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]	Macular Degeneration; Height; height; Body Height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17	https://www.uniprot.org/uniprot/Q8TE56	https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607511	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17	rs8024690	0.38139	0.3954	0.3632	1	0	0	intronic	intronic	intronic	ADAMTS17	ADAMTS17	ENSG00000140470	Na	Na	Na	Na	Na	Na	Het;T>C	861;47|36	Hom;T>C	1422;2|46
N	N	-	15	101094573	101094645	CGGATGACTTCCTTCCGGACGCAGATGAGGGACGGGTGGATGACTTCCTTCCGGACGCAGATGAGGGACGGGT	C	indel	ncRNA_exonic	 	 	 	 	PRKXP1																		Na	0	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_intronic	PRKXP1	PRKXP1(uc031qul.1:c.*4388_*4316delinsG)	ENSG00000259205	Na	Na	Na	Na	Na	Na	Het;-GGATGACTTCCTTCCGGACGCAGATGAGGGACGGGTGGATGACTTCCTTCCGGACGCAGATGAGGGACGGGT	127;2|11	Hom;-GGATGACTTCCTTCCGGACGCAGATGAGGGACGGGTGGATGACTTCCTTCCGGACGCAGATGAGGGACGGGT	43;5|3
N	N	-	15	101288609	101288609	G	A	snp	ncRNA_intronic	 	 	 	 	AC087762.1																		rs62020758	0.155351	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ASB7(dist=96705),ALDH1A3(dist=131288)	ASB7(dist=96705),LOC145757(dist=101427)	ENSG00000259579	Na	Na	Na	Na	Na	Na	Het;G>A	270;6|11	Hom;G>A	966;0|32
N	N	-	15	101717680	101717680	G	T	snp	synonymous SNV	C1506A	T502T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CHSY1	Chsy1	ENSG00000131873	chondroitin sulfate synthase 1	chr15:101715928-101792137	This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]	Iron	Homozygous mice are viable, but display chondrodysplasia, brachydactyly and decreased bone density. Retinal degeneration, impaired motor strength, and hematological abnormalities are also seen.	Chondroitin sulfate biosynthesis	GO:0002063;chondrocyte development;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030279;negative regulation of ossification;IMP|GO:0031667;response to nutrient levels;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0051216;cartilage development;IEA|GO:0051923;sulfation;IEA|GO:0060349;bone morphogenesis;IEA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IDA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA	GO:0008376;acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046872;metal ion binding;IEA|GO:0047238;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;TAS|GO:0050510;N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CHSY1	https://www.uniprot.org/uniprot/Q86X52	https://hpo.jax.org/app/browse/search?q=CHSY1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608183	http://www.informatics.jax.org/searchtool/Search.do?query=CHSY1&submit=Quick%0D%6600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHSY1	rs8024370	0.759784	0.6648	0.6468	1	0	0	exonic	exonic	exonic	CHSY1	CHSY1	ENSG00000131873	synonymous SNV	synonymous SNV	unknown	CHSY1:NM_014918:exon3:c.C2322A:p.T774T,	CHSY1:uc010usd.2:exon2:c.C1506A:p.T502T,CHSY1:uc021sxt.1:exon3:c.C2322A:p.T774T,	UNKNOWN	Het;G>T	743;54|38	Hom;G>T	2401;0|89
N	N	-	15	101922184	101922184	C	G	snp	intronic	 	 	 	 	PCSK6	Pcsk6	ENSG00000140479	proprotein convertase subtilisin/kexin type 6	chr15:101840818-102065405	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; blood pressure, arterial; Tobacco Use Disorder	Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both.	Assembly of active LPL and LIPC lipase complexes	GO:0006508;proteolysis;IEA|GO:0007354;zygotic determination of anterior/posterior axis, embryo;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009100;glycoprotein metabolic process;IDA|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0030510;regulation of BMP signaling pathway;TAS|GO:0032455;nerve growth factor processing;TAS|GO:0032902;nerve growth factor production;IDA|GO:0032940;secretion by cell;IDA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0070268;cornification;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IDA	GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IEA|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PCSK6	https://www.uniprot.org/uniprot/P29122		https://www.ncbi.nlm.nih.gov/omim/?term=167405	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK6&submit=Quick%0D%8034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK6	rs3784487	0.240216	0	0	1	0	0	intronic	intronic	intronic	PCSK6	PCSK6	ENSG00000140479	Na	Na	Na	Na	Na	Na	Het;C>G	217;15|11	Hom;C>G	585;0|19
N	N	-	15	101922323	101922323	A	G	snp	synonymous SNV	T1503C	C501C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	PCSK6	Pcsk6	ENSG00000140479	proprotein convertase subtilisin/kexin type 6	chr15:101840818-102065405	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; blood pressure, arterial; Tobacco Use Disorder	Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both.	Assembly of active LPL and LIPC lipase complexes	GO:0006508;proteolysis;IEA|GO:0007354;zygotic determination of anterior/posterior axis, embryo;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009100;glycoprotein metabolic process;IDA|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0030510;regulation of BMP signaling pathway;TAS|GO:0032455;nerve growth factor processing;TAS|GO:0032902;nerve growth factor production;IDA|GO:0032940;secretion by cell;IDA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0070268;cornification;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IDA	GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IEA|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PCSK6	https://www.uniprot.org/uniprot/P29122		https://www.ncbi.nlm.nih.gov/omim/?term=167405	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK6&submit=Quick%0D%8034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK6	rs1058260	0.235823	0.25	0.2722	1	0	0	exonic	exonic	exonic	PCSK6	PCSK6	ENSG00000140479	unknown	synonymous SNV	unknown	UNKNOWN	PCSK6:uc002bxe.3:exon12:c.T1503C:p.C501C,PCSK6:uc010bpe.3:exon12:c.T1494C:p.C498C,PCSK6:uc002bxc.1:exon12:c.T1503C:p.C501C,PCSK6:uc002bxb.2:exon12:c.T1503C:p.C501C,PCSK6:uc002bxa.2:exon12:c.T1503C:p.C501C,PCSK6:uc002bxd.1:exon12:c.T1503C:p.C501C,PCSK6:uc002bwy.3:exon12:c.T1503C:p.C501C,	UNKNOWN	Het;A>G	1133;74|55	Hom;A>G	3411;0|128
N	N	-	15	101984036	101984036	C	T	snp	intronic	 	 	 	 	PCSK6	Pcsk6	ENSG00000140479	proprotein convertase subtilisin/kexin type 6	chr15:101840818-102065405	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; blood pressure, arterial; Tobacco Use Disorder	Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both.	Assembly of active LPL and LIPC lipase complexes	GO:0006508;proteolysis;IEA|GO:0007354;zygotic determination of anterior/posterior axis, embryo;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009100;glycoprotein metabolic process;IDA|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0030510;regulation of BMP signaling pathway;TAS|GO:0032455;nerve growth factor processing;TAS|GO:0032902;nerve growth factor production;IDA|GO:0032940;secretion by cell;IDA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0070268;cornification;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IDA	GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IEA|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PCSK6	https://www.uniprot.org/uniprot/P29122		https://www.ncbi.nlm.nih.gov/omim/?term=167405	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK6&submit=Quick%0D%8034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK6	rs11855154	0.210663	0	0	1	0	0	intronic	intronic	intronic	PCSK6	PCSK6	ENSG00000140479	Na	Na	Na	Na	Na	Na	Het;C>T	61;3|3	Hom;C>T	214;0|7
N	N	-	15	102251993	102251993	G	A	snp	intronic	 	 	 	 	TARSL2	Tarsl2	ENSG00000185418	threonyl-tRNA synthetase like 2	chr15:102193801-102264807		Tobacco Use Disorder	 		GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TARSL2				http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2	rs11247320	0.625599	0	0	1	0	0	intronic	intronic	intronic	TARSL2	TARSL2	ENSG00000185418	Na	Na	Na	Na	Na	Na	Het;G>A	96;4|4	Hom;G>A	349;0|12
N	N	-	15	102264304	102264304	G	C	snp	nonsynonymous SNV	C287G	A96G	aliphatic,hydrophobic,neutral	aliphatic,neutral	TARSL2	Tarsl2	ENSG00000185418	threonyl-tRNA synthetase like 2	chr15:102193801-102264807		Tobacco Use Disorder	 		GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TARSL2				http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2	rs1143138	0.458666	0.1842	0.5845	0.08	1	12	exonic	exonic	exonic	TARSL2	TARSL2	ENSG00000185418	nonsynonymous SNV	nonsynonymous SNV	unknown	TARSL2:NM_152334:exon1:c.C287G:p.A96G,	TARSL2:uc002bxm.3:exon1:c.C287G:p.A96G,	UNKNOWN	Het;G>C	217;2|10	Hom;G>C	105;0|5
N	N	-	15	102276178	102276178	T	A	snp	intergenic	 	 	 	 	TARSL2	Tarsl2	ENSG00000185418	threonyl-tRNA synthetase like 2	chr15:102193801-102264807		Tobacco Use Disorder	 		GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TARSL2				http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2	rs352721	0.478435	0	0	1	0	0	intergenic	intergenic	intergenic	TARSL2(dist=11533),OR4F6(dist=69745)	TARSL2(dist=11533),BC101079(dist=9944)	ENSG00000185418(dist=11371),ENSG00000259658(dist=1124)	Na	Na	Na	Na	Na	Na	Het;T>A	358;15|18	Hom;T>A	936;0|34
N	N	-	15	102291955	102291955	G	A	snp	ncRNA_intronic	 	 	 	 	DNM1P47																		rs397212	0.463458	0	0.3842	1	0	0	intergenic	intronic	ncRNA_intronic	TARSL2(dist=27310),OR4F6(dist=53968)	BC101079	ENSG00000259660	Na	Na	Na	Na	Na	Na	Het;G>A	47;4|4	Hom;G>A	145;0|6
N	N	-	15	102292782	102292786	TCTCA	T	indel	frameshift substitution	370_374T	 	 	 	BC101079																		rs61084368	0.280351	0	0.2701	1	0	0	intergenic	exonic	ncRNA_exonic	TARSL2(dist=28137),OR4F6(dist=53137)	BC101079	ENSG00000259660	Na	frameshift substitution	Na	Na	BC101079:uc010usj.2:exon4:c.370_374T,	Na	Het;-CTCA	186;6|6	Hom;-CTCA	509;0|13
N	N	-	15	20536679	20536679	A	T	snp	intergenic	 	 	 	 	CHEK2P2																		rs3087727	0	0	0	1	0	0	intergenic	intergenic	intergenic	CHEK2P2(dist=39868),HERC2P3(dist=76971)	CHEK2P2(dist=39868),HERC2P3(dist=51689)	ENSG00000259156(dist=39840),ENSG00000258654(dist=13310)	Na	Na	Na	Na	Na	Na	Het;A>T	1137;39|55	Hom;A>T	1996;0|73
N	N	-	15	20559830	20559830	A	G	snp	ncRNA_intronic	 	 	 	 	AC026495.1																		rs999388	0.859625	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CHEK2P2(dist=63019),HERC2P3(dist=53820)	CHEK2P2(dist=63019),HERC2P3(dist=28538)	ENSG00000258654	Na	Na	Na	Na	Na	Na	Het;A>G	212;6|9	Hom;A>G	640;1|22
N	N	-	15	20562819	20562819	T	G	snp	ncRNA_intronic	 	 	 	 	AC026495.1																		rs937583	0.899161	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CHEK2P2(dist=66008),HERC2P3(dist=50831)	CHEK2P2(dist=66008),HERC2P3(dist=25549)	ENSG00000258654	Na	Na	Na	Na	Na	Na	Het;T>G	359;7|11	Hom;T>G	228;0|7
N	N	-	15	20564532	20564532	C	A	snp	downstream	 	 	 	 	AC026495.1																		rs6599964	0	0	0	1	0	0	intergenic	intergenic	downstream	CHEK2P2(dist=67721),HERC2P3(dist=49118)	CHEK2P2(dist=67721),HERC2P3(dist=23836)	ENSG00000258654	Na	Na	Na	Na	Na	Na	Het;C>A	118;3|6	Hom;C>A	243;0|10
N	N	-	15	20886316	20886316	G	A	snp	ncRNA_intronic	 	 	 	 	NBEAP1																		rs6422245	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NBEAP1	NBEAP1	ENSG00000258590	Na	Na	Na	Na	Na	Na	Het;G>A	159;6|7	Hom;G>A	106;0|4
N	N	-	15	21222503	21222503	T	A	snp	downstream	 	 	 	 	IGHD1OR15-1B		ENSG00000270185		chr15:21223129-21223145								http://www.genecards.org/index.php?path=/Search/keyword/IGHD1OR15-1B				http://www.informatics.jax.org/searchtool/Search.do?query=IGHD1OR15-1B&submit=Quick%0D%20798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGHD1OR15-1B	rs201578951	0.191893	0	0	1	0	0	intergenic	intergenic	downstream	LINC01193(dist=23870),LOC646214(dist=710011)	CT60(dist=23870),DQ576041(dist=103707)	ENSG00000270185	Na	Na	Na	Na	Na	Na	Het;T>A	249;10|13	Hom;T>A	234;0|10
N	N	-	15	22014797	22014797	T	G	snp	ncRNA_exonic	 	 	 	 	CXADRP2																		rs4984042	0	0	0	1	0	0	ncRNA_exonic	UTR3	downstream	CXADRP2	CXADRP2(uc010tzk.1:c.*1341A>C)	ENSG00000258712	Na	Na	Na	Na	Na	Na	Het;T>G	2017;58|92	Hom;T>G	3313;2|119
N	N	-	15	22346536	22346536	G	C	snp	ncRNA_intronic	 	 	 	 	abParts																		rs7171690	0.873802	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927079,LOC727924	abParts	ENSG00000259176	Na	Na	Na	Na	Na	Na	Het;G>C	476;3|14	Hom;G>C	458;0|12
N	N	-	15	22346577	22346577	T	C	snp	ncRNA_intronic	 	 	 	 	abParts																		rs7168027	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927079,LOC727924	abParts	ENSG00000259176	Na	Na	Na	Na	Na	Na	Het;T>C	816;11|24	Hom;T>C	1084;0|29
N	N	-	15	22346609	22346609	G	A	snp	ncRNA_intronic	 	 	 	 	abParts																		rs7171729	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927079,LOC727924	abParts	ENSG00000259176	Na	Na	Na	Na	Na	Na	Het;G>A	1391;22|49	Hom;G>A	1525;0|48
N	N	-	15	22346849	22346849	A	C	snp	ncRNA_intronic	 	 	 	 	abParts																		rs1429476	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927079,LOC727924	abParts	ENSG00000259176	Na	Na	Na	Na	Na	Na	Het;A>C	2852;43|106	Hom;A>C	4466;0|138
N	N	-	15	22413700	22413700	A	G	snp	ncRNA_exonic	 	 	 	 	OR4N3P																		rs267612	0	0	0.8292	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	OR4N3P	abParts	ENSG00000259435	Na	Na	Na	Na	Na	Na	Het;A>G	802;7|23	Hom;A>G	510;0|14
N	N	-	15	22939192	22939192	G	A	snp	synonymous SNV	G1002A	P334P	hydrophobic,neutral	hydrophobic,neutral	CYFIP1	Cyfip1	ENSG00000280618	cytoplasmic FMR1 interacting protein 1	chr15:22892005-23006016		Waist Circumference; Body Mass Index; E-Selectin	Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity.					http://www.genecards.org/index.php?path=/Search/keyword/CYFIP1			https://www.ncbi.nlm.nih.gov/omim/?term=606322	http://www.informatics.jax.org/searchtool/Search.do?query=CYFIP1&submit=Quick%0D%22226ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYFIP1	rs11633474	0.330072	0.4460	0.4371	1	0	0	exonic	exonic	exonic	CYFIP1	CYFIP1	ENSG00000068793	synonymous SNV	synonymous SNV	unknown	CYFIP1:NM_001287810:exon11:c.G918A:p.P306P,CYFIP1:NM_014608:exon10:c.G918A:p.P306P,	CYFIP1:uc010aya.1:exon9:c.G1002A:p.P334P,CYFIP1:uc001yut.3:exon11:c.G918A:p.P306P,CYFIP1:uc001yus.3:exon10:c.G918A:p.P306P,	UNKNOWN	Het;G>A	588;55|32	Hom;G>A	2249;2|87
N	N	-	15	22940670	22940670	C	T	snp	intronic	 	 	 	 	CYFIP1	Cyfip1	ENSG00000280618	cytoplasmic FMR1 interacting protein 1	chr15:22892005-23006016		Waist Circumference; Body Mass Index; E-Selectin	Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity.					http://www.genecards.org/index.php?path=/Search/keyword/CYFIP1			https://www.ncbi.nlm.nih.gov/omim/?term=606322	http://www.informatics.jax.org/searchtool/Search.do?query=CYFIP1&submit=Quick%0D%22226ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYFIP1	rs3751566	0.189896	0	0	1	0	0	intronic	intronic	intronic	CYFIP1	CYFIP1	ENSG00000068793	Na	Na	Na	Na	Na	Na	Het;C>T	507;26|21	Hom;C>T	1046;0|34
N	N	-	15	22999940	22999941	TG	T	indel	intronic	 	 	 	 	CYFIP1	Cyfip1	ENSG00000280618	cytoplasmic FMR1 interacting protein 1	chr15:22892005-23006016		Waist Circumference; Body Mass Index; E-Selectin	Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity.					http://www.genecards.org/index.php?path=/Search/keyword/CYFIP1			https://www.ncbi.nlm.nih.gov/omim/?term=606322	http://www.informatics.jax.org/searchtool/Search.do?query=CYFIP1&submit=Quick%0D%22226ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYFIP1	rs11307802	0.885184	0	0	1	0	0	intronic	intronic	intronic	CYFIP1	CYFIP1	ENSG00000068793	Na	Na	Na	Na	Na	Na	Het;-G	98;1|4	Hom;-G	188;0|6
N	N	-	15	23000272	23000272	A	G	snp	UTR3	*17A>G	 	 	 	ENSG00000068793																		rs999842	0.528754	0.5007	0.5549	1	0	0	intronic	intronic	UTR3	CYFIP1	CYFIP1	ENSG00000068793(ENST00000561263:c.*17A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1248;93|59	Hom;A>G	3364;0|125
N	N	-	15	23006215	23006219	CCTTT	C	indel	UTR3	*6_*2delinsG	 	 	 	NIPA2	Nipa2	ENSG00000140157	non imprinted in Prader-Willi/Angelman syndrome 2	chr15:23004684-23034427	This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]		 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NIPA2	https://www.uniprot.org/uniprot/Q8N8Q9		https://www.ncbi.nlm.nih.gov/omim/?term=608146	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA2&submit=Quick%0D%7984ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA2	rs368460716	0.186901	0.1974	0.2439	1	0	0	UTR3	UTR3	UTR3	NIPA2(NM_001184888:c.*6_*2delinsG,NM_030922:c.*6_*2delinsG,NM_001184889:c.*6_*2delinsG,NM_001008894:c.*6_*2delinsG,NM_001008892:c.*6_*2delinsG,NM_001008860:c.*6_*2delinsG)	NIPA2(uc001yvb.3:c.*6_*2delinsG,uc001yux.3:c.*6_*2delinsG,uc001yuy.3:c.*6_*2delinsG,uc001yuz.3:c.*6_*2delinsG,uc010ayb.3:c.*6_*2delinsG,uc001yva.3:c.*6_*2delinsG)	ENSG00000140157(ENST00000398014:c.*6_*2delinsG,ENST00000337451:c.*6_*2delinsG,ENST00000398013:c.*6_*2delinsG,ENST00000539711:c.*6_*2delinsG)	Na	Na	Na	Na	Na	Na	Het;-CTTT	1651;53|44	Hom;-CTTT	3924;0|88
N	N	-	15	23021113	23021113	G	A	snp	intronic	 	 	 	 	NIPA2	Nipa2	ENSG00000140157	non imprinted in Prader-Willi/Angelman syndrome 2	chr15:23004684-23034427	This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]		 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NIPA2	https://www.uniprot.org/uniprot/Q8N8Q9		https://www.ncbi.nlm.nih.gov/omim/?term=608146	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA2&submit=Quick%0D%7984ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA2	rs7170784	0.379593	0	0	1	0	0	intronic	intronic	intronic	NIPA2	NIPA2	ENSG00000140157	Na	Na	Na	Na	Na	Na	Het;G>A	349;10|15	Hom;G>A	892;0|30
N	N	-	15	23046314	23046314	C	G	snp	UTR3	*2515G>C	 	 	 	NIPA1	Nipa1	ENSG00000170113	non imprinted in Prader-Willi/Angelman syndrome 1	chr15:23043277-23100005	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]	multiple sclerosis; Psychiatric Disorders; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary	 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:0055085;transmembrane transport;TAS|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NIPA1		https://hpo.jax.org/app/browse/search?q=NIPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608145	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA1&submit=Quick%0D%12633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA1	rs6606820	0.447883	0	0	1	0	0	UTR3	UTR3	UTR3	NIPA1(NM_001142275:c.*2515G>C,NM_144599:c.*2515G>C)	NIPA1(uc001yvc.3:c.*2515G>C,uc001yvd.3:c.*2515G>C,uc001yve.3:c.*2515G>C)	ENSG00000170113(ENST00000337435:c.*2515G>C,ENST00000437912:c.*2515G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	799;30|36	Hom;C>G	1893;0|69
N	N	-	15	23046404	23046404	T	C	snp	UTR3	*2425A>G	 	 	 	NIPA1	Nipa1	ENSG00000170113	non imprinted in Prader-Willi/Angelman syndrome 1	chr15:23043277-23100005	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]	multiple sclerosis; Psychiatric Disorders; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary	 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:0055085;transmembrane transport;TAS|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NIPA1		https://hpo.jax.org/app/browse/search?q=NIPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608145	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA1&submit=Quick%0D%12633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA1	rs12902722	0.164736	0	0	1	0	0	UTR3	UTR3	UTR3	NIPA1(NM_001142275:c.*2425A>G,NM_144599:c.*2425A>G)	NIPA1(uc001yvc.3:c.*2425A>G,uc001yvd.3:c.*2425A>G,uc001yve.3:c.*2425A>G)	ENSG00000170113(ENST00000337435:c.*2425A>G,ENST00000437912:c.*2425A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	797;35|40	Hom;T>C	2341;2|87
N	N	-	15	23046770	23046770	T	TAA	indel	UTR3	*2059A>TTA	 	 	 	NIPA1	Nipa1	ENSG00000170113	non imprinted in Prader-Willi/Angelman syndrome 1	chr15:23043277-23100005	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]	multiple sclerosis; Psychiatric Disorders; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary	 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:0055085;transmembrane transport;TAS|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NIPA1		https://hpo.jax.org/app/browse/search?q=NIPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608145	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA1&submit=Quick%0D%12633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA1	rs3057642	0.721446	0	0	1	0	0	UTR3	UTR3	UTR3	NIPA1(NM_001142275:c.*2059A>TTA,NM_144599:c.*2059A>TTA)	NIPA1(uc001yvc.3:c.*2059A>TTA,uc001yvd.3:c.*2059A>TTA,uc001yve.3:c.*2059A>TTA)	ENSG00000170113(ENST00000337435:c.*2059A>TTA,ENST00000437912:c.*2059A>TTA)	Na	Na	Na	Na	Na	Na	Het;+AA	1372;48|37	Hom;+AA	2548;0|60
N	N	-	15	23046855	23046855	G	T	snp	UTR3	*1974C>A	 	 	 	NIPA1	Nipa1	ENSG00000170113	non imprinted in Prader-Willi/Angelman syndrome 1	chr15:23043277-23100005	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]	multiple sclerosis; Psychiatric Disorders; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary	 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:0055085;transmembrane transport;TAS|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NIPA1		https://hpo.jax.org/app/browse/search?q=NIPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608145	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA1&submit=Quick%0D%12633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA1	rs6606823	0.963858	0	0	1	0	0	UTR3	UTR3	UTR3	NIPA1(NM_001142275:c.*1974C>A,NM_144599:c.*1974C>A)	NIPA1(uc001yvc.3:c.*1974C>A,uc001yvd.3:c.*1974C>A,uc001yve.3:c.*1974C>A)	ENSG00000170113(ENST00000337435:c.*1974C>A,ENST00000437912:c.*1974C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1062;66|51	Hom;G>T	4092;0|94
N	N	-	15	23047702	23047702	G	C	snp	UTR3	*1127C>G	 	 	 	NIPA1	Nipa1	ENSG00000170113	non imprinted in Prader-Willi/Angelman syndrome 1	chr15:23043277-23100005	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]	multiple sclerosis; Psychiatric Disorders; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary	 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:0055085;transmembrane transport;TAS|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NIPA1		https://hpo.jax.org/app/browse/search?q=NIPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608145	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA1&submit=Quick%0D%12633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA1	rs1059774	0.410144	0	0	1	0	0	UTR3	UTR3	UTR3	NIPA1(NM_001142275:c.*1127C>G,NM_144599:c.*1127C>G)	NIPA1(uc001yvc.3:c.*1127C>G,uc001yvd.3:c.*1127C>G,uc001yve.3:c.*1127C>G)	ENSG00000170113(ENST00000337435:c.*1127C>G,ENST00000437912:c.*1127C>G,ENST00000559448:c.*1818C>G,ENST00000538684:c.*1127C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	947;52|47	Hom;G>C	1815;0|65
N	N	-	15	23048392	23048394	TAC	T	indel	UTR3	*437_*435delinsA	 	 	 	NIPA1	Nipa1	ENSG00000170113	non imprinted in Prader-Willi/Angelman syndrome 1	chr15:23043277-23100005	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]	multiple sclerosis; Psychiatric Disorders; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary	 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:0055085;transmembrane transport;TAS|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NIPA1		https://hpo.jax.org/app/browse/search?q=NIPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608145	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA1&submit=Quick%0D%12633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA1	rs10611411	0.413139	0	0	1	0	0	UTR3	UTR3	UTR3	NIPA1(NM_001142275:c.*437_*435delinsA,NM_144599:c.*437_*435delinsA)	NIPA1(uc001yvc.3:c.*437_*435delinsA,uc001yvd.3:c.*437_*435delinsA,uc001yve.3:c.*437_*435delinsA)	ENSG00000170113(ENST00000337435:c.*437_*435delinsA,ENST00000437912:c.*437_*435delinsA,ENST00000559448:c.*1128_*1126delinsA,ENST00000538684:c.*437_*435delinsA,ENST00000561183:c.*437_*435delinsA)	Na	Na	Na	Na	Na	Na	Het;-AC	1584;31|41	Hom;-AC	3101;0|70
N	N	-	15	23052632	23052632	T	C	snp	synonymous SNV	A441G	T147T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NIPA1	Nipa1	ENSG00000170113	non imprinted in Prader-Willi/Angelman syndrome 1	chr15:23043277-23100005	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]	multiple sclerosis; Psychiatric Disorders; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary	 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:0055085;transmembrane transport;TAS|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0015095;magnesium ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NIPA1		https://hpo.jax.org/app/browse/search?q=NIPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608145	http://www.informatics.jax.org/searchtool/Search.do?query=NIPA1&submit=Quick%0D%12633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPA1	rs11263683	0.704073	0.6537	0.7359	1	0	0	exonic	exonic	exonic	NIPA1	NIPA1	ENSG00000170113	synonymous SNV	synonymous SNV	unknown	NIPA1:NM_144599:exon4:c.A441G:p.T147T,NIPA1:NM_001142275:exon4:c.A216G:p.T72T,	NIPA1:uc001yvc.3:exon4:c.A441G:p.T147T,NIPA1:uc001yve.3:exon4:c.A216G:p.T72T,	UNKNOWN	Het;T>C	902;36|41	Hom;T>C	2586;0|92
N	N	-	15	23094223	23094223	G	A	snp	downstream	 	 	 	 	LOC283683																		rs7170324	0.323882	0	0	1	0	0	downstream	downstream	intronic	LOC283683	LOC283683	ENSG00000170113	Na	Na	Na	Na	Na	Na	Het;G>A	33;2|2	Hom;G>A	148;0|5
N	N	-	15	23094322	23094322	A	G	snp	downstream	 	 	 	 	LOC283683																		rs7174677	0.323882	0	0	1	0	0	downstream	downstream	intronic	LOC283683	LOC283683	ENSG00000170113	Na	Na	Na	Na	Na	Na	Het;A>G	601;24|24	Hom;A>G	1201;0|42
N	N	-	15	23097066	23097066	C	A	snp	ncRNA_exonic	 	 	 	 	AC011767.1																		rs35362453	0.348642	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC283683	LOC283683	ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;C>A	454;31|22	Hom;C>A	1786;0|63
N	N	-	15	23101253	23101253	C	T	snp	ncRNA_intronic	 	 	 	 	LOC283683																		rs7176521	0.345847	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC283683	LOC283683	ENSG00000259344,ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;C>T	979;20|23	Hom;C>T	1038;0|21
N	N	-	15	23101257	23101257	A	C	snp	ncRNA_intronic	 	 	 	 	LOC283683																		rs7162839	0.345847	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC283683	LOC283683	ENSG00000259344,ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;A>C	1016;22|29	Hom;A>C	1063;0|27
N	N	-	15	23101451	23101451	A	G	snp	ncRNA_intronic	 	 	 	 	LOC283683																		rs71470087	0.331869	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC283683	LOC283683	ENSG00000259344,ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;A>G	655;20|30	Hom;A>G	903;0|31
N	N	-	15	23101825	23101825	C	A	snp	ncRNA_exonic	 	 	 	 	AC011767.1																		rs11854577	0.331869	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC283683	LOC283683	ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;C>A	741;32|33	Hom;C>A	1169;0|36
N	N	-	15	23102041	23102041	G	A	snp	ncRNA_intronic	 	 	 	 	LOC283683																		rs11858748	0.33746	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC283683	LOC283683	ENSG00000259344,ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;G>A	88;11|5	Hom;G>A	330;0|11
N	N	-	15	23102339	23102339	G	A	snp	ncRNA_exonic	 	 	 	 	AC011767.1																		rs201474335	0.34984	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC283683	LOC283683	ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;G>A	131;3|4	Hom;G>A	242;0|6
N	N	-	15	23102360	23102360	G	A	snp	ncRNA_exonic	 	 	 	 	AC011767.1																		rs7402278	0.566494	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC283683	LOC283683	ENSG00000259425	Na	Na	Na	Na	Na	Na	Het;G>A	45;5|2	Hom;G>A	197;0|5
N	N	-	15	23108625	23108625	C	T	snp	ncRNA_exonic	 	 	 	 	ENSG00000259344																		rs12324507	0.454073	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC283683	LOC283683	ENSG00000259344	Na	Na	Na	Na	Na	Na	Het;C>T	478;8|19	Hom;C>T	397;0|12
N	N	-	15	23114440	23114440	C	G	snp	ncRNA_intronic	 	 	 	 	LOC283683																		rs7180794	0.485024	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC283683	LOC283683	ENSG00000259344	Na	Na	Na	Na	Na	Na	Het;C>G	36;6|3	Hom;C>G	346;0|9
N	N	-	15	23157363	23157363	G	A	snp	downstream	 	 	 	 	ENSG00000230856																		rs28495330	0.213059	0	0	1	0	0	intergenic	intergenic	downstream	LOC283683(dist=42109),WHAMMP3(dist=30366)	LOC283683(dist=42109),WHAMMP3(dist=30366)	ENSG00000230856	Na	Na	Na	Na	Na	Na	Het;G>A	211;9|10	Hom;G>A	783;0|28
N	N	-	15	24368464	24368464	G	A	snp	intergenic	 	 	 	 	PWRN4																		rs10519459	0.199081	0	0	1	0	0	intergenic	intergenic	intergenic	PWRN4(dist=35163),PWRN2(dist=41462)	NDN(dist=436014),AK124131(dist=41460)	ENSG00000260232(dist=119882),ENSG00000260551(dist=39437)	Na	Na	Na	Na	Na	Na	Het;G>A	269;11|14	Hom;G>A	263;1|14
N	N	-	15	24397441	24397441	A	C	snp	intergenic	 	 	 	 	PWRN4																		rs1850476	0.555112	0	0	1	0	0	intergenic	intergenic	intergenic	PWRN4(dist=64140),PWRN2(dist=12485)	NDN(dist=464991),AK124131(dist=12483)	ENSG00000260232(dist=148859),ENSG00000260551(dist=10460)	Na	Na	Na	Na	Na	Na	Het;A>C	96;1|5	Hom;A>C	105;0|6
N	N	-	15	24689917	24689917	A	T	snp	ncRNA_intronic	 	 	 	 	PWRN3																		rs71461537	0.147564	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	PWRN3	AK124131(dist=274822),PWRN1(dist=88922)	ENSG00000260760	Na	Na	Na	Na	Na	Na	Het;A>T	129;1|5	Hom;A>T	141;0|6
N	N	-	15	25219512	25219512	T	C	snp	UTR5;UTR3	-89T>C	 	 	 	SNRPN	Snrpn	ENSG00000128739	small nuclear ribonucleoprotein polypeptide N	chr15:25068794-25223870	The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008]	pulmonary function traits (other); Autism	Homozygotes for targeted intragenic deletions are phenotypically normal. Deletions that also encompass neighboring genes on the paternal chromosome exhibit growth retardation, hypotonia, and high mortality.	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0008380;RNA splicing;TAS|GO:0009725;response to hormone;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0008380;RNA splicing;TAS|GO:0009725;response to hormone;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005682;U5 snRNP;IBA|GO:0005685;U1 snRNP;IEA|GO:0005686;U2 snRNP;IEA|GO:0005687;U4 snRNP;IBA|GO:0005737;cytoplasm;IBA|GO:0019013;viral nucleocapsid;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030532;small nuclear ribonucleoprotein complex;TAS|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA|GO:0071004;U2-type prespliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNRPN	https://www.uniprot.org/uniprot/P63162	https://hpo.jax.org/app/browse/search?q=SNRPN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182279	http://www.informatics.jax.org/searchtool/Search.do?query=SNRPN&submit=Quick%0D%136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPN	rs705	0.521765	0.5096	0	1	0	0	UTR5;UTR3	UTR5	UTR5;UTR3	SNRPN(NM_022807:c.-89T>C,NM_022806:c.-89T>C,NM_022808:c.-89T>C,NM_022805:c.-89T>C,NM_003097:c.-89T>C);SNURF(NM_005678:c.*100T>C)	SNRPN(uc001ywp.1:c.-89T>C,uc001ywq.1:c.-89T>C,uc001ywr.1:c.-89T>C,uc001yws.1:c.-89T>C,uc001ywt.1:c.-89T>C,uc001ywy.1:c.-89T>C,uc021sga.1:c.-89T>C,uc021sgb.1:c.-581T>C)	ENSG00000128739(ENST00000400098:c.-89T>C,ENST00000400100:c.-89T>C,ENST00000400097:c.-89T>C,ENST00000390687:c.-89T>C,ENST00000584968:c.-89T>C,ENST00000554227:c.-578T>C,ENST00000577565:c.-89T>C,ENST00000444203:c.-578T>C);ENSG00000273173(ENST00000338094:c.*100T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	373;39|19	Hom;T>C	1623;1|55
N	N	-	15	25330550	25330550	T	A	snp	ncRNA_exonic	 	 	 	 	SNORD116-18																		rs3803328	0.637979	0.6941	0.6257	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNORD116-18	SNORD116-18	ENSG00000206688	Na	Na	Na	Na	Na	Na	Het;T>A	872;52|45	Hom;T>A	2443;2|97
N	N	-	15	25364551	25364551	T	C	snp	ncRNA_exonic	 	 	 	 	IPW																		rs1043164	0.826677	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	IPW	IPW	ENSG00000224078	Na	Na	Na	Na	Na	Na	Het;T>C	899;42|39	Hom;T>C	2326;0|78
N	N	-	15	25937004	25937004	C	T	snp	intronic	 	 	 	 	ATP10A	Atp10a	ENSG00000206190	ATPase phospholipid transporting 10A (putative)	chr15:25922420-26110317	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]	Basophils; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Stroke; autism; Body Mass Index; hypertension; Tobacco Use Disorder; Tunica Media; Glucose; Hemoglobin A, Glycosylated; several psychiatric disorders; Inflammation	Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008360;regulation of cell shape;NAS|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP10A			https://www.ncbi.nlm.nih.gov/omim/?term=605855	http://www.informatics.jax.org/searchtool/Search.do?query=ATP10A&submit=Quick%0D%17615ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP10A	rs2066705	0.446885	0	0	1	0	0	intronic	intronic	intronic	ATP10A	ATP10A	ENSG00000206190	Na	Na	Na	Na	Na	Na	Het;C>T	460;11|16	Hom;C>T	647;0|19
N	N	-	15	26577629	26577629	A	G	snp	intergenic	 	 	 	 	LINC00929																		rs6576561	0.664736	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00929(dist=199445),GABRB3(dist=211065)	LINC00929(dist=199445),GABRB3(dist=211065)	ENSG00000259150(dist=199445),ENSG00000235160(dist=62590)	Na	Na	Na	Na	Na	Na	Het;A>G	131;33|11	Hom;A>G	1016;0|38
N	N	-	15	27137583	27137583	G	C	snp	intronic	 	 	 	 	GABRA5	Gabra5	ENSG00000186297	gamma-aminobutyric acid type A receptor alpha5 subunit	chr15:27111510-27194354	GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]	epilepsy; schizophrenia | autism; bipolar disorder; migraine; attention deficit disorder conduct disorder oppositional defiant disorder; Migraine with Aura; major depression; Autism; Bipolar Disorder; schizophrenia; autism; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Bulimia	Mice having disruptions in this gene display abnormalities in hearing and in ear structure.  Subtle abnormalities in learning and in conditioning have also been reported.	GABA A receptor activation	GO:0001662;behavioral fear response;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007420;brain development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008306;associative learning;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048666;neuron development;IEA|GO:0060119;inner ear receptor cell development;IEA|GO:0060384;innervation;IEA|GO:0090102;cochlea development;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0030425;dendrite;IEA|GO:0032809;neuronal cell body membrane;IEA|GO:0034707;chloride channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004872;receptor activity;TAS|GO:0004890;GABA-A receptor activity;IEA|GO:0005215;transporter activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0050811;GABA receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRA5			https://www.ncbi.nlm.nih.gov/omim/?term=137142	http://www.informatics.jax.org/searchtool/Search.do?query=GABRA5&submit=Quick%0D%15610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA5	rs140183574	0.785743	0	0	1	0	0	intronic	intronic	intronic	GABRA5	GABRA5,GABRB3	ENSG00000166206,ENSG00000186297	Na	Na	Na	Na	Na	Na	Het;G>C	47;3|2	Hom;G>C	120;0|6
N	N	-	15	28357230	28357230	T	C	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs4778245	0.931709	0.9695	0.9680	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;T>C	680;16|26	Hom;T>C	1491;0|50
N	N	-	15	28359744	28359744	G	A	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs7495441	0.790935	0.8259	0.9275	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;G>A	319;27|16	Hom;G>A	1052;0|37
N	N	-	15	28361764	28361764	C	T	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs4778247	0.790935	0.8262	0.9302	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;C>T	220;13|11	Hom;C>T	696;0|24
N	N	-	15	28377196	28377196	C	CCT	indel	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs10627923	0.928115	0.9625	0.9669	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;+CT	1787;48|47	Hom;+CT	2252;0|53
N	N	-	15	28377772	28377772	C	T	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs8025035	0.623602	0.7752	0.8338	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;C>T	305;21|12	Hom;C>T	1046;0|33
N	N	-	15	28378122	28378122	T	G	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs4778141	0.791534	0	0	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;T>G	79;1|3	Hom;T>G	172;0|5
N	N	-	15	28389508	28389508	C	T	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs7403363	0.83726	0	0	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;C>T	123;4|5	Hom;C>T	314;0|11
N	N	-	15	28414665	28414665	T	C	snp	synonymous SNV	A10194G	S3398S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs7494786	0.88119	0.9188	0.9524	1	0	0	exonic	exonic	exonic	HERC2	HERC2	ENSG00000128731	synonymous SNV	synonymous SNV	unknown	HERC2:NM_004667:exon66:c.A10194G:p.S3398S,	HERC2:uc001zbj.4:exon66:c.A10194G:p.S3398S,	UNKNOWN	Het;T>C	2195;85|96	Hom;T>C	4802;0|170
N	N	-	15	28502279	28502279	A	G	snp	synonymous SNV	T2445C	G815G	aliphatic,neutral	aliphatic,neutral	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs11631797	0.442492	0.6671	0.6876	1	0	0	exonic	exonic	exonic	HERC2	HERC2	ENSG00000128731	synonymous SNV	synonymous SNV	unknown	HERC2:NM_004667:exon17:c.T2445C:p.G815G,	HERC2:uc001zbj.4:exon17:c.T2445C:p.G815G,HERC2:uc001zbl.2:exon18:c.T1530C:p.G510G,	UNKNOWN	Het;A>G	577;49|29	Hom;A>G	2234;0|77
N	N	-	15	28516084	28516084	C	T	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs8039195	0.439097	0	0	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;C>T	343;22|16	Hom;C>T	1148;0|38
N	N	-	15	28566742	28566742	G	A	snp	intronic	 	 	 	 	HERC2	Herc2	ENSG00000277278	HECT and RLD domain containing E3 ubiquitin protein ligase 2	chr15:28356186-28567298	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Iris color; Crohn Disease|Crohn's disease; Skin Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative|Crohn Disease|; Asthma; Hair Color; Crohn's, Ulcerative Colitis; human pigmentation; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; null; Eye Color; melanoma|Skin Neoplasms; Black vs blond hair color; Black vs red hair color	Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability.  Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.					http://www.genecards.org/index.php?path=/Search/keyword/HERC2		https://hpo.jax.org/app/browse/search?q=HERC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605837	http://www.informatics.jax.org/searchtool/Search.do?query=HERC2&submit=Quick%0D%21795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC2	rs2525964	0.627995	0	0	1	0	0	intronic	intronic	intronic	HERC2	HERC2	ENSG00000128731	Na	Na	Na	Na	Na	Na	Het;G>A	227;8|8	Hom;G>A	482;0|14
N	N	-	15	28769050	28769050	G	A	snp	ncRNA_intronic	 	 	 	 	GOLGA8F	 	ENSG00000276896	golgin A8 family member F	chr15:28623767-28637170			 			GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GOLGA8F				http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA8F&submit=Quick%0D%21712ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA8F	rs375194121	0.0628994	0.0467	0.0888	1	0	0	ncRNA_intronic	intronic	intronic	GOLGA8F,GOLGA8G	GOLGA8G	ENSG00000183629	Na	Na	Na	Na	Na	Na	Het;G>A	1583;108|79	Hom;G>A	2212;0|84
N	N	-	15	29416901	29416901	A	G	snp	nonsynonymous SNV	T1292C	V431A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAM189A1	Fam189a1	ENSG00000273564	family with sequence similarity 189 member A1	chr15:29412457-29862927		Arrhythmias, Cardiac; Tobacco Use Disorder; Arteries; Type 2 Diabetes| edema | rosiglitazone	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM189A1				http://www.informatics.jax.org/searchtool/Search.do?query=FAM189A1&submit=Quick%0D%20949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM189A1	rs2279482	0.171326	0.1187	0.1412	0.08	1	13	exonic	exonic	exonic	FAM189A1	FAM189A1	ENSG00000104059	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM189A1:NM_015307:exon10:c.T1292C:p.V431A,	FAM189A1:uc010azk.1:exon10:c.T1292C:p.V431A,FAM189A1:uc001zcn.2:exon7:c.T704C:p.V235A,	UNKNOWN	Het;A>G	1056;69|55	Hom;A>G	2451;4|97
N	N	-	15	29421014	29421014	G	C	snp	synonymous SNV	C981G	T327T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FAM189A1	Fam189a1	ENSG00000273564	family with sequence similarity 189 member A1	chr15:29412457-29862927		Arrhythmias, Cardiac; Tobacco Use Disorder; Arteries; Type 2 Diabetes| edema | rosiglitazone	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM189A1				http://www.informatics.jax.org/searchtool/Search.do?query=FAM189A1&submit=Quick%0D%20949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM189A1	rs2306934	0.13778	0.0896	0.1180	1	0	0	exonic	exonic	exonic	FAM189A1	FAM189A1	ENSG00000104059	synonymous SNV	synonymous SNV	unknown	FAM189A1:NM_015307:exon8:c.C981G:p.T327T,	FAM189A1:uc010azk.1:exon8:c.C981G:p.T327T,FAM189A1:uc001zcn.2:exon5:c.C393G:p.T131T,	UNKNOWN	Het;G>C	481;36|24	Hom;G>C	1038;0|41
N	N	-	15	29421054	29421054	C	T	snp	nonsynonymous SNV	G941A	G314D	aliphatic,neutral	polar,hydrophilic,charged(-)	FAM189A1	Fam189a1	ENSG00000273564	family with sequence similarity 189 member A1	chr15:29412457-29862927		Arrhythmias, Cardiac; Tobacco Use Disorder; Arteries; Type 2 Diabetes| edema | rosiglitazone	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM189A1				http://www.informatics.jax.org/searchtool/Search.do?query=FAM189A1&submit=Quick%0D%20949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM189A1	rs2306933	0.135184	0.0854	0.1138	0.08	1	13	exonic	exonic	exonic	FAM189A1	FAM189A1	ENSG00000104059	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM189A1:NM_015307:exon8:c.G941A:p.G314D,	FAM189A1:uc010azk.1:exon8:c.G941A:p.G314D,FAM189A1:uc001zcn.2:exon5:c.G353A:p.G118D,	UNKNOWN	Het;C>T	522;40|26	Hom;C>T	1505;0|39
N	N	-	15	30001328	30001328	C	T	snp	intronic	 	 	 	 	TJP1	Tjp1	ENSG00000277401	tight junction protein 1	chr15:29991571-30261068	This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]		Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal.	RUNX1 regulates expression of components of tight junctions	GO:0007043;cell-cell junction assembly;TAS|GO:0035329;hippo signaling;TAS|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:1901350;cell-cell signaling involved in cell-cell junction organization;NAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;TAS|GO:0005921;gap junction;IEA|GO:0005923;bicellular tight junction;TAS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0043296;apical junction complex;IDA|GO:0045177;apical part of cell;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP1	https://www.uniprot.org/uniprot/Q07157		https://www.ncbi.nlm.nih.gov/omim/?term=601009	http://www.informatics.jax.org/searchtool/Search.do?query=TJP1&submit=Quick%0D%21827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP1	rs17683205	0.13738	0	0	1	0	0	intronic	intronic	intronic	TJP1	TJP1	ENSG00000104067	Na	Na	Na	Na	Na	Na	Het;C>T	182;10|8	Hom;C>T	146;0|5
N	N	-	15	30018627	30018627	T	C	snp	nonsynonymous SNV	A2380G	I794V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TJP1	Tjp1	ENSG00000277401	tight junction protein 1	chr15:29991571-30261068	This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]		Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal.	RUNX1 regulates expression of components of tight junctions	GO:0007043;cell-cell junction assembly;TAS|GO:0035329;hippo signaling;TAS|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:1901350;cell-cell signaling involved in cell-cell junction organization;NAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;TAS|GO:0005921;gap junction;IEA|GO:0005923;bicellular tight junction;TAS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0043296;apical junction complex;IDA|GO:0045177;apical part of cell;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP1	https://www.uniprot.org/uniprot/Q07157		https://www.ncbi.nlm.nih.gov/omim/?term=601009	http://www.informatics.jax.org/searchtool/Search.do?query=TJP1&submit=Quick%0D%21827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP1	rs2229515	0.141773	0.0976	0.1312	0.38	5	13	exonic	exonic	exonic	TJP1	TJP1	ENSG00000104067	nonsynonymous SNV	nonsynonymous SNV	unknown	TJP1:NM_001301026:exon19:c.A2380G:p.I794V,TJP1:NM_003257:exon18:c.A2368G:p.I790V,TJP1:NM_001301025:exon19:c.A2569G:p.I857V,TJP1:NM_175610:exon18:c.A2368G:p.I790V,	TJP1:uc010azl.3:exon17:c.A2332G:p.I778V,TJP1:uc001zcq.3:exon19:c.A2380G:p.I794V,TJP1:uc001zcr.3:exon18:c.A2368G:p.I790V,TJP1:uc001zcs.3:exon18:c.A2368G:p.I790V,	UNKNOWN	Het;T>C	1100;50|53	Hom;T>C	1884;2|71
N	N	-	15	30020106	30020106	A	G	snp	intronic	 	 	 	 	TJP1	Tjp1	ENSG00000277401	tight junction protein 1	chr15:29991571-30261068	This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]		Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal.	RUNX1 regulates expression of components of tight junctions	GO:0007043;cell-cell junction assembly;TAS|GO:0035329;hippo signaling;TAS|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:1901350;cell-cell signaling involved in cell-cell junction organization;NAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;TAS|GO:0005921;gap junction;IEA|GO:0005923;bicellular tight junction;TAS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0043296;apical junction complex;IDA|GO:0045177;apical part of cell;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP1	https://www.uniprot.org/uniprot/Q07157		https://www.ncbi.nlm.nih.gov/omim/?term=601009	http://www.informatics.jax.org/searchtool/Search.do?query=TJP1&submit=Quick%0D%21827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP1	rs11073221	0.141973	0.0977	0.1363	1	0	0	intronic	intronic	intronic	TJP1	TJP1	ENSG00000104067	Na	Na	Na	Na	Na	Na	Het;A>G	696;19|30	Hom;A>G	1975;2|71
N	N	-	15	30053684	30053684	T	C	snp	intronic	 	 	 	 	TJP1	Tjp1	ENSG00000277401	tight junction protein 1	chr15:29991571-30261068	This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]		Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal.	RUNX1 regulates expression of components of tight junctions	GO:0007043;cell-cell junction assembly;TAS|GO:0035329;hippo signaling;TAS|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:1901350;cell-cell signaling involved in cell-cell junction organization;NAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;TAS|GO:0005921;gap junction;IEA|GO:0005923;bicellular tight junction;TAS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0043296;apical junction complex;IDA|GO:0045177;apical part of cell;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP1	https://www.uniprot.org/uniprot/Q07157		https://www.ncbi.nlm.nih.gov/omim/?term=601009	http://www.informatics.jax.org/searchtool/Search.do?query=TJP1&submit=Quick%0D%21827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP1	rs2293186	0.140775	0	0	1	0	0	intronic	intronic	intronic	TJP1	TJP1	ENSG00000104067	Na	Na	Na	Na	Na	Na	Het;T>C	31;5|2	Hom;T>C	135;0|4
N	N	-	15	31115709	31115709	G	C	snp	ncRNA_intronic	 	 	 	 	HERC2P10																		rs2240101	0.672324	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	HERC2P10	HERC2P10	ENSG00000259845	Na	Na	Na	Na	Na	Na	Het;G>C	277;16|12	Hom;G>C	872;0|28
N	N	-	15	31119800	31119800	G	A	snp	ncRNA_intronic	 	 	 	 	HERC2P10																		rs11632454	0.672923	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	HERC2P10	HERC2P10	ENSG00000259845	Na	Na	Na	Na	Na	Na	Het;G>A	157;14|7	Hom;G>A	566;0|17
N	N	-	15	31218164	31218164	T	C	snp	intronic	 	 	 	 	FAN1	Fan1	ENSG00000276787	FANCD2 and FANCI associated nuclease 1	chr15:31196055-31235311	This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]		Mice homozygous for mutations in this gene display renal tubular karyomegaly with polyploidy and defects in interstrand cross-link DNA repair. Some homozygous mice also display hepatocyte karyomegaly and liver dysfunction.	Fanconi Anemia Pathway	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0033683;nucleotide-excision repair, DNA incision;IDA|GO:0036297;interstrand cross-link repair;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0045171;intercellular bridge;IDA	GO:0000287;magnesium ion binding;TAS|GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004528;phosphodiesterase I activity;IEA|GO:0005515;protein binding;IPI|GO:0008409;5'-3' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0017108;5'-flap endonuclease activity;IDA|GO:0043130;ubiquitin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070336;flap-structured DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FAN1		https://hpo.jax.org/app/browse/search?q=FAN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613534	http://www.informatics.jax.org/searchtool/Search.do?query=FAN1&submit=Quick%0D%21685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAN1	rs2959037	0.748602	0.6223	0.6711	1	0	0	intronic	intronic	intronic	FAN1	FAN1	ENSG00000198690	Na	Na	Na	Na	Na	Na	Het;T>C	775;53|35	Hom;T>C	2221;0|77
N	N	-	15	31244083	31244083	T	G	snp	intronic	 	 	 	 	MTMR10	Mtmr10	ENSG00000277086	myotubularin related protein 10	chr15:31231144-31283810			 	Synthesis of PIPs at the early endosome membrane		GO:0005829;cytosol;TAS		http://www.genecards.org/index.php?path=/Search/keyword/MTMR10				http://www.informatics.jax.org/searchtool/Search.do?query=MTMR10&submit=Quick%0D%21752ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR10	rs2955790	0.499002	0	0	1	0	0	intronic	intronic	intronic	MTMR10	MTMR10	ENSG00000166912	Na	Na	Na	Na	Na	Na	Het;T>G	126;9|7	Hom;T>G	161;0|6
N	N	-	15	31453056	31453056	T	C	snp	intronic	 	 	 	 	TRPM1	Trpm1	ENSG00000274965	transient receptor potential cation channel subfamily M member 1	chr15:31293264-31453476	This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	Risperidone; Carotid Artery Diseases; response to antipsychotic treatment	Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses.		GO:0006811;ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRPM1		https://hpo.jax.org/app/browse/search?q=TRPM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603576	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM1&submit=Quick%0D%21244ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM1	rs12906081	0.341254	0	0	1	0	0	intronic	intronic	intronic	TRPM1	TRPM1	ENSG00000134160	Na	Na	Na	Na	Na	Na	Het;T>C	581;35|29	Hom;T>C	1364;0|48
N	N	-	15	32686530	32686530	A	T	snp	upstream;downstream	 	 	 	 	JB175342																		rs62005480	0.714457	0	0	1	0	0	intronic	upstream;downstream	intronic	GOLGA8K	JB175342;DQ582448,Metazoa_SRP	ENSG00000249931	Na	Na	Na	Na	Na	Na	Het;A>T	1798;108|86	Hom;A>T	2872;0|105
N	N	-	15	33529017	33529027	GGAGAGAGAGA	G	indel	ncRNA_exonic	 	 	 	 	TMCO5B																		rs547206613	0.562101	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	TMCO5B	TMCO5B	ENSG00000215296	Na	Na	Na	Na	Na	Na	Het;-GAGAGAGAGA	241;1|8	Hom;-GAGAGAGAGA	521;0|11
N	N	-	15	33536590	33536590	C	T	snp	ncRNA_intronic	 	 	 	 	TMCO5B																		rs34506222	0.269369	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TMCO5B	TMCO5B	ENSG00000215296	Na	Na	Na	Na	Na	Na	Het;C>T	502;12|17	Hom;C>T	441;0|16
N	N	-	15	33538072	33538072	A	G	snp	ncRNA_exonic	 	 	 	 	TMCO5B																		rs16967443	0.694489	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMCO5B	TMCO5B	ENSG00000215296	Na	Na	Na	Na	Na	Na	Het;A>G	562;39|28	Hom;A>G	902;0|33
N	N	-	15	33538102	33538102	C	G	snp	ncRNA_exonic	 	 	 	 	TMCO5B																		rs10519736	0.271765	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMCO5B	TMCO5B	ENSG00000215296	Na	Na	Na	Na	Na	Na	Het;C>G	429;32|20	Hom;C>G	727;0|28
N	N	-	15	33840414	33840414	A	G	snp	intronic	 	 	 	 	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs1435100	0.796326	0.8981	0.8261	1	0	0	intronic	intronic	intronic	RYR3	RYR3	ENSG00000198838	Na	Na	Na	Na	Na	Na	Het;A>G	500;26|24	Hom;A>G	1977;0|71
N	N	-	15	33872177	33872177	C	T	snp	synonymous SNV	C1269T	S423S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs674155	0.604233	0.6843	0.7143	1	0	0	exonic	exonic	exonic	RYR3	RYR3	ENSG00000198838	synonymous SNV	synonymous SNV	unknown	RYR3:NM_001036:exon13:c.C1269T:p.S423S,RYR3:NM_001243996:exon13:c.C1269T:p.S423S,	RYR3:uc001zhi.3:exon13:c.C1269T:p.S423S,RYR3:uc010bar.3:exon13:c.C1269T:p.S423S,	UNKNOWN	Het;C>T	479;19|24	Hom;C>T	1179;2|46
N	N	-	15	33916053	33916053	G	C	snp	synonymous SNV	G2403C	L801L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs2229117	0.0826677	0.1007	0.1168	1	0	0	exonic	exonic	exonic	RYR3	RYR3	ENSG00000198838	synonymous SNV	synonymous SNV	unknown	RYR3:NM_001036:exon20:c.G2403C:p.L801L,RYR3:NM_001243996:exon20:c.G2403C:p.L801L,	RYR3:uc001zhi.3:exon20:c.G2403C:p.L801L,RYR3:uc010bar.3:exon20:c.G2403C:p.L801L,	UNKNOWN	Het;G>C	962;44|42	Hom;G>C	2649;2|92
N	N	-	15	33925062	33925062	G	A	snp	intronic	 	 	 	 	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs3816940	0.147564	0	0	1	0	0	intronic	intronic	intronic	RYR3	RYR3	ENSG00000198838	Na	Na	Na	Na	Na	Na	Het;G>A	240;12|12	Hom;G>A	266;0|9
N	N	-	15	33928785	33928785	A	G	snp	intronic	 	 	 	 	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs35203574	0.13778	0.1563	0.1354	1	0	0	intronic	intronic	intronic	RYR3	RYR3	ENSG00000198838	Na	Na	Na	Na	Na	Na	Het;A>G	480;19|22	Hom;A>G	1057;1|39
N	N	-	15	34014913	34014913	C	T	snp	intronic	 	 	 	 	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs2293028	0.40635	0.2829	0.3263	1	0	0	intronic	intronic	intronic	RYR3	RYR3	ENSG00000198838	Na	Na	Na	Na	Na	Na	Het;C>T	602;36|31	Hom;C>T	2009;0|79
N	N	-	15	34049615	34049615	A	G	snp	intronic	 	 	 	 	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs2288604	0.207069	0	0	1	0	0	intronic	intronic	intronic	RYR3	RYR3	ENSG00000198838	Na	Na	Na	Na	Na	Na	Het;A>G	243;17|11	Hom;A>G	1077;0|33
N	N	-	15	34146886	34146886	T	C	snp	intronic	 	 	 	 	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs713201	0.916134	0	0	1	0	0	intronic	intronic	intronic	RYR3	RYR3	ENSG00000198838	Na	Na	Na	Na	Na	Na	Het;T>C	185;15|8	Hom;T>C	723;0|24
N	N	-	15	34146922	34146922	C	T	snp	intronic	 	 	 	 	RYR3	Ryr3	ENSG00000198838	ryanodine receptor 3	chr15:33603163-34158303	The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Autism; Cholesterol, LDL; Glucose; smoking cessation; Carotid atherosclerosis in HIV infection; Exercise Test; Alcoholism; Carotid Artery Diseases; Hyperparathyroidism, Secondary; null; Pancreatitis, Alcoholic|Pancreatitis, Chronic; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder; Magnesium; Stroke; Creatinine	Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071313;cellular response to caffeine;ISS|GO:0071318;cellular response to ATP;ISS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031090;organelle membrane;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IMP|GO:0048763;calcium-induced calcium release activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR3			https://www.ncbi.nlm.nih.gov/omim/?term=180903	http://www.informatics.jax.org/searchtool/Search.do?query=RYR3&submit=Quick%0D%17034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR3	rs713203	0.885982	0.8235	0.8638	1	0	0	intronic	intronic	intronic	RYR3	RYR3	ENSG00000198838	Na	Na	Na	Na	Na	Na	Het;C>T	498;40|24	Hom;C>T	1517;0|53
N	N	-	15	34151668	34151668	G	C	snp	ncRNA_intronic	 	 	 	 	AC010809.1																		rs7180084	0.902955	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RYR3	RYR3	ENSG00000259287	Na	Na	Na	Na	Na	Na	Het;G>C	105;5|4	Hom;G>C	456;0|13
N	N	-	15	34434467	34434468	CT	C	indel	UTR3	*73_*72delinsG	 	 	 	KATNBL1	Katnbl1	ENSG00000134152	katanin regulatory subunit B1 like 1	chr15:34432875-34502297			 			GO:0005730;nucleolus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KATNBL1	https://www.uniprot.org/uniprot/Q9H079		https://www.ncbi.nlm.nih.gov/omim/?term=616235	http://www.informatics.jax.org/searchtool/Search.do?query=KATNBL1&submit=Quick%0D%6919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KATNBL1	rs3028163	0.554313	0	0	1	0	0	UTR3	UTR3	UTR3	KATNBL1(NM_024713:c.*73_*72delinsG)	KATNBL1(uc001zhp.3:c.*73_*72delinsG)	ENSG00000134152(ENST00000256544:c.*73_*72delinsG,ENST00000561270:c.*73_*72delinsG)	Na	Na	Na	Na	Na	Na	Het;-T	350;26|22	Hom;-T	860;3|41
N	N	-	15	34522679	34522679	C	T	snp	UTR3	*3403G>A	 	 	 	SLC12A6	Slc12a6	ENSG00000140199	solute carrier family 12 member 6	chr15:34525460-34630261	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]	schizophrenia; bipolar disorder; Body Height; Chronic renal failure|Kidney Failure, Chronic; agenesis of the corpus callosum; Autism	Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.	Cation-coupled Chloride cotransporters	GO:0001525;angiogenesis;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0055085;transmembrane transport;IEA|GO:0071477;cellular hypotonic salinity response;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A6	https://www.uniprot.org/uniprot/Q9UHW9	https://hpo.jax.org/app/browse/search?q=SLC12A6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604878	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A6&submit=Quick%0D%7985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A6	rs4530104	0.544928	0	0	1	0	0	UTR3	UTR3	downstream	SLC12A6(NM_001042497:c.*3403G>A,NM_005135:c.*3403G>A,NM_133647:c.*3403G>A,NM_001042496:c.*3403G>A,NM_001042494:c.*3403G>A,NM_001042495:c.*3403G>A)	SLC12A6(uc001zhu.3:c.*3403G>A,uc001zhv.3:c.*3403G>A,uc001zhw.3:c.*3403G>A,uc001zhx.3:c.*3403G>A,uc001zia.3:c.*3403G>A,uc001zib.3:c.*3403G>A,uc001zic.3:c.*3403G>A,uc010bau.3:c.*3403G>A,uc001zid.3:c.*3403G>A)	ENSG00000128463	Na	Na	Na	Na	Na	Na	Het;C>T	1055;70|53	Hom;C>T	2784;0|104
N	N	-	15	34524995	34524995	G	T	snp	UTR3	*1087C>A	 	 	 	SLC12A6	Slc12a6	ENSG00000140199	solute carrier family 12 member 6	chr15:34525460-34630261	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]	schizophrenia; bipolar disorder; Body Height; Chronic renal failure|Kidney Failure, Chronic; agenesis of the corpus callosum; Autism	Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.	Cation-coupled Chloride cotransporters	GO:0001525;angiogenesis;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0055085;transmembrane transport;IEA|GO:0071477;cellular hypotonic salinity response;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A6	https://www.uniprot.org/uniprot/Q9UHW9	https://hpo.jax.org/app/browse/search?q=SLC12A6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604878	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A6&submit=Quick%0D%7985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A6	rs4779660	0.789537	0	0	1	0	0	UTR3	UTR3	downstream	SLC12A6(NM_001042497:c.*1087C>A,NM_005135:c.*1087C>A,NM_133647:c.*1087C>A,NM_001042496:c.*1087C>A,NM_001042494:c.*1087C>A,NM_001042495:c.*1087C>A)	SLC12A6(uc001zhu.3:c.*1087C>A,uc001zhv.3:c.*1087C>A,uc001zhw.3:c.*1087C>A,uc001zhx.3:c.*1087C>A,uc001zia.3:c.*1087C>A,uc001zib.3:c.*1087C>A,uc001zic.3:c.*1087C>A,uc010bau.3:c.*1087C>A,uc001zid.3:c.*1087C>A)	ENSG00000140199	Na	Na	Na	Na	Na	Na	Het;G>T	271;19|14	Hom;G>T	472;0|18
N	N	-	15	34525035	34525035	T	C	snp	UTR3	*1047A>G	 	 	 	SLC12A6	Slc12a6	ENSG00000140199	solute carrier family 12 member 6	chr15:34525460-34630261	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]	schizophrenia; bipolar disorder; Body Height; Chronic renal failure|Kidney Failure, Chronic; agenesis of the corpus callosum; Autism	Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.	Cation-coupled Chloride cotransporters	GO:0001525;angiogenesis;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0055085;transmembrane transport;IEA|GO:0071477;cellular hypotonic salinity response;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A6	https://www.uniprot.org/uniprot/Q9UHW9	https://hpo.jax.org/app/browse/search?q=SLC12A6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604878	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A6&submit=Quick%0D%7985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A6	rs4780233	0.586062	0	0	1	0	0	UTR3	UTR3	downstream	SLC12A6(NM_001042497:c.*1047A>G,NM_005135:c.*1047A>G,NM_133647:c.*1047A>G,NM_001042496:c.*1047A>G,NM_001042494:c.*1047A>G,NM_001042495:c.*1047A>G)	SLC12A6(uc001zhu.3:c.*1047A>G,uc001zhv.3:c.*1047A>G,uc001zhw.3:c.*1047A>G,uc001zhx.3:c.*1047A>G,uc001zia.3:c.*1047A>G,uc001zib.3:c.*1047A>G,uc001zic.3:c.*1047A>G,uc010bau.3:c.*1047A>G,uc001zid.3:c.*1047A>G)	ENSG00000140199	Na	Na	Na	Na	Na	Na	Het;T>C	79;14|4	Hom;T>C	251;0|10
N	N	-	15	34528948	34528948	G	A	snp	synonymous SNV	C2826T	L942L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC12A6	Slc12a6	ENSG00000140199	solute carrier family 12 member 6	chr15:34525460-34630261	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]	schizophrenia; bipolar disorder; Body Height; Chronic renal failure|Kidney Failure, Chronic; agenesis of the corpus callosum; Autism	Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.	Cation-coupled Chloride cotransporters	GO:0001525;angiogenesis;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0055085;transmembrane transport;IEA|GO:0071477;cellular hypotonic salinity response;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A6	https://www.uniprot.org/uniprot/Q9UHW9	https://hpo.jax.org/app/browse/search?q=SLC12A6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604878	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A6&submit=Quick%0D%7985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A6	rs4577050	0.572085	0.5956	0.6510	1	0	0	exonic	exonic	exonic	SLC12A6	SLC12A6	ENSG00000140199	synonymous SNV	synonymous SNV	unknown	SLC12A6:NM_001042497:exon21:c.C2958T:p.L986L,SLC12A6:NM_005135:exon22:c.C2850T:p.L950L,SLC12A6:NM_001042495:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042496:exon23:c.C2976T:p.L992L,SLC12A6:NM_001042494:exon23:c.C2826T:p.L942L,SLC12A6:NM_133647:exon22:c.C3003T:p.L1001L,	SLC12A6:uc001zid.3:exon23:c.C2826T:p.L942L,SLC12A6:uc001zic.3:exon23:c.C3003T:p.L1001L,SLC12A6:uc001zhw.3:exon22:c.C3003T:p.L1001L,SLC12A6:uc010bau.3:exon23:c.C3003T:p.L1001L,SLC12A6:uc001zhv.3:exon22:c.C2850T:p.L950L,SLC12A6:uc001zhx.3:exon21:c.C2958T:p.L986L,SLC12A6:uc001zib.3:exon23:c.C2976T:p.L992L,SLC12A6:uc001zia.3:exon23:c.C2826T:p.L942L,SLC12A6:uc001zhu.3:exon21:c.C2439T:p.L813L,	UNKNOWN	Het;G>A	1748;99|87	Hom;G>A	3868;0|141
N	N	-	15	34543055	34543055	G	A	snp	intronic	 	 	 	 	SLC12A6	Slc12a6	ENSG00000140199	solute carrier family 12 member 6	chr15:34525460-34630261	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]	schizophrenia; bipolar disorder; Body Height; Chronic renal failure|Kidney Failure, Chronic; agenesis of the corpus callosum; Autism	Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.	Cation-coupled Chloride cotransporters	GO:0001525;angiogenesis;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0055085;transmembrane transport;IEA|GO:0071477;cellular hypotonic salinity response;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A6	https://www.uniprot.org/uniprot/Q9UHW9	https://hpo.jax.org/app/browse/search?q=SLC12A6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604878	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A6&submit=Quick%0D%7985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A6	rs10851964	0.572883	0.5948	0.6512	1	0	0	intronic	intronic	intronic	SLC12A6	SLC12A6	ENSG00000140199	Na	Na	Na	Na	Na	Na	Het;G>A	645;40|31	Hom;G>A	1564;0|58
N	N	-	15	34550118	34550118	C	T	snp	intronic	 	 	 	 	SLC12A6	Slc12a6	ENSG00000140199	solute carrier family 12 member 6	chr15:34525460-34630261	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]	schizophrenia; bipolar disorder; Body Height; Chronic renal failure|Kidney Failure, Chronic; agenesis of the corpus callosum; Autism	Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.	Cation-coupled Chloride cotransporters	GO:0001525;angiogenesis;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0055085;transmembrane transport;IEA|GO:0071477;cellular hypotonic salinity response;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A6	https://www.uniprot.org/uniprot/Q9UHW9	https://hpo.jax.org/app/browse/search?q=SLC12A6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604878	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A6&submit=Quick%0D%7985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A6	rs2705350	0.882188	0	0	1	0	0	intronic	intronic	intronic	SLC12A6	SLC12A6	ENSG00000140199	Na	Na	Na	Na	Na	Na	Het;C>T	137;11|6	Hom;C>T	535;0|17
N	N	-	15	34654718	34654718	C	T	snp	intronic	 	 	 	 	LPCAT4	Lpcat4	ENSG00000176454	lysophosphatidylcholine acyltransferase 4	chr15:34651106-34659479	Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]	Heart Rate; Lipids	 	Synthesis of PA	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IDA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0003841;1-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0047144;2-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0047166;1-alkenylglycerophosphoethanolamine O-acyltransferase activity;IEA|GO:0047184;1-acylglycerophosphocholine O-acyltransferase activity;IEA|GO:0047192;1-alkylglycerophosphocholine O-acetyltransferase activity;IEA|GO:0071617;lysophospholipid acyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LPCAT4			https://www.ncbi.nlm.nih.gov/omim/?term=612039	http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT4&submit=Quick%0D%13862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT4	rs2279686	0.399361	0.4662	0	1	0	0	intronic	intronic	intronic	LPCAT4	LPCAT4	ENSG00000176454	Na	Na	Na	Na	Na	Na	Het;C>T	318;5|13	Hom;C>T	535;0|17
N	N	-	15	35103105	35103105	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101928174																		rs6495717	0.582668	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101928174	AK092087	ENSG00000250007	Na	Na	Na	Na	Na	Na	Het;A>G	1553;76|66	Hom;A>G	3538;3|124
N	N	-	15	35834547	35834547	T	C	snp	intronic	 	 	 	 	DPH6	Dph6	ENSG00000134146	diphthamine biosynthesis 6	chr15:35509546-35838394		Tobacco Use Disorder; Heart Rate; Lipoproteins, VLDL; Arthritis, Rheumatoid; Vitamin D; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Pancreatic Neoplasms; Potassium; Blood Viscosity; Amyotrophic Lateral Sclerosis; Depressive Disorder, Major; Alcoholism; Cholesterol, HDL	 	Synthesis of diphthamide-EEF2	GO:0017183;peptidyl-diphthamide biosynthetic process from peptidyl-histidine;TAS|GO:0031647;regulation of protein stability;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0017178;diphthine-ammonia ligase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DPH6	https://www.uniprot.org/uniprot/Q7L8W6			http://www.informatics.jax.org/searchtool/Search.do?query=DPH6&submit=Quick%0D%6918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPH6	rs1020307	0.633187	0	0	1	0	0	intronic	intronic	intronic	DPH6	DPH6	ENSG00000134146	Na	Na	Na	Na	Na	Na	Het;T>C	114;4|4	Hom;T>C	519;0|16
N	N	-	15	36053971	36053971	G	T	snp	ncRNA_intronic	 	 	 	 	DPH6-AS1																		rs12916749	0.420927	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DPH6-AS1	DPH6-AS1	ENSG00000248079	Na	Na	Na	Na	Na	Na	Het;G>T	123;12|7	Hom;G>T	564;0|19
N	N	-	15	36619170	36619170	A	G	snp	intergenic	 	 	 	 	AC021351.1																		rs4924056	0.441893	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4510(dist=400046),C15orf41(dist=252634)	MIR4510(dist=400046),C15orf41(dist=252642)	ENSG00000259639(dist=74712),ENSG00000259395(dist=14770)	Na	Na	Na	Na	Na	Na	Het;A>G	175;16|10	Hom;A>G	451;0|18
N	N	-	15	36871957	36871957	C	T	snp	UTR5	-105C>T	 	 	 	C15orf41	BC052040	ENSG00000186073	chromosome 15 open reading frame 41	chr15:36871812-37102449	This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]	Cholesterol, HDL; Potassium; Type 2 Diabetes| edema | rosiglitazone	 					http://www.genecards.org/index.php?path=/Search/keyword/C15orf41			https://www.ncbi.nlm.nih.gov/omim/?term=615626	http://www.informatics.jax.org/searchtool/Search.do?query=C15orf41&submit=Quick%0D%15557ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C15orf41	rs3743337	0.477636	0	0	1	0	0	UTR5	UTR5	UTR5	C15orf41(NM_001130010:c.-105C>T,NM_001290233:c.-105C>T)	C15orf41(uc001zje.4:c.-105C>T)	ENSG00000186073(ENST00000566621:c.-105C>T,ENST00000564586:c.-105C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	187;8|9	Hom;C>T	337;0|11
N	N	-	15	36989469	36989469	G	A	snp	intronic	 	 	 	 	C15orf41	BC052040	ENSG00000186073	chromosome 15 open reading frame 41	chr15:36871812-37102449	This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]	Cholesterol, HDL; Potassium; Type 2 Diabetes| edema | rosiglitazone	 					http://www.genecards.org/index.php?path=/Search/keyword/C15orf41			https://www.ncbi.nlm.nih.gov/omim/?term=615626	http://www.informatics.jax.org/searchtool/Search.do?query=C15orf41&submit=Quick%0D%15557ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C15orf41	rs2381887	0.838059	0.7662	0	1	0	0	intronic	intronic	intronic	C15orf41	C15orf41	ENSG00000186073	Na	Na	Na	Na	Na	Na	Het;G>A	907;33|42	Hom;G>A	1321;0|49
N	N	-	15	37178525	37178525	G	A	snp	ncRNA_intronic	 	 	 	 	LOC145845																		rs7173770	0.582867	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC145845	LOC145845	ENSG00000259280	Na	Na	Na	Na	Na	Na	Het;G>A	235;4|9	Hom;G>A	563;0|17
N	N	-	15	37842154	37842154	C	G	snp	intergenic	 	 	 	 	AC016304.1																		rs7183493	0.611621	0	0	1	0	0	intergenic	intergenic	intergenic	MEIS2(dist=448654),TMCO5A(dist=384654)	MEIS2(dist=448654),TMCO5A(dist=384673)	ENSG00000243122(dist=58850),ENSG00000166069(dist=371986)	Na	Na	Na	Na	Na	Na	Het;C>G	148;2|5	Hom;C>G	92;1|4
N	N	-	15	39390253	39390253	A	G	snp	ncRNA_intronic	 	 	 	 	AC013652.1																		rs11637989	0.365016	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	C15orf53(dist=398014),C15orf54(dist=152617)	C15orf53(dist=398014),C15orf54(dist=152632)	ENSG00000259345	Na	Na	Na	Na	Na	Na	Het;A>G	745;38|37	Hom;A>G	2090;0|76
N	N	-	15	40247689	40247689	A	G	snp	intronic	 	 	 	 	EIF2AK4	Eif2ak4	ENSG00000128829	eukaryotic translation initiation factor 2 alpha kinase 4	chr15:40226347-40327797	This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]	PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE	Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection.		GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS	GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4	https://www.uniprot.org/uniprot/Q9P2K8	https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609280	http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4	rs503830	0.865815	0	0	1	0	0	intronic	intronic	intronic	EIF2AK4	EIF2AK4	ENSG00000128829	Na	Na	Na	Na	Na	Na	Het;A>G	193;4|6	Hom;A>G	143;0|4
N	N	-	15	40328575	40328575	G	C	snp	nonsynonymous SNV	C370G	P124A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SRP14	Srp14	ENSG00000140319	signal recognition particle 14	chr15:40327940-40331389		Sarcoma, Ewing; Dehydroepiandrosterone Sulfate; Body Fat Distribution	 	Neutrophil degranulation	GO:0006613;cotranslational protein targeting to membrane;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0042493;response to drug;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0045047;protein targeting to ER;IMP	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;TAS|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0034774;secretory granule lumen;TAS|GO:0048500;signal recognition particle;IEA|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008312;7S RNA binding;TAS|GO:0030942;endoplasmic reticulum signal peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SRP14	https://www.uniprot.org/uniprot/P37108		https://www.ncbi.nlm.nih.gov/omim/?term=600708	http://www.informatics.jax.org/searchtool/Search.do?query=SRP14&submit=Quick%0D%8001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP14	rs7535	0.880591	0.9081	0.9044	0.09	1	11	exonic	exonic	exonic	SRP14	SRP14	ENSG00000140319	nonsynonymous SNV	nonsynonymous SNV	unknown	SRP14:NM_003134:exon5:c.C370G:p.P124A,	SRP14:uc001zkq.2:exon5:c.C370G:p.P124A,	UNKNOWN	Het;G>C	717;17|35	Hom;G>C	992;0|38
N	N	-	15	40557268	40557268	C	A	snp	intronic	 	 	 	 	PAK6	Pak6	ENSG00000137843	p21 (RAC1) activated kinase 6	chr15:40509629-40569688	This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Iron; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; esophageal adenocarcinoma; bladder cancer; lung cancer	Mice homozygous for a null allele do not exhibit any abnormal phenotype.	Activation of Rac	GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PAK6	https://www.uniprot.org/uniprot/Q9NQU5		https://www.ncbi.nlm.nih.gov/omim/?term=608110	http://www.informatics.jax.org/searchtool/Search.do?query=PAK6&submit=Quick%0D%7620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK6	rs936216	0.660942	0	0	1	0	0	intronic	intronic	intronic	PAK6	PAK6	ENSG00000137843,ENSG00000259288	Na	Na	Na	Na	Na	Na	Het;C>A	164;8|7	Hom;C>A	640;0|21
N	N	-	15	40558744	40558744	G	A	snp	intronic	 	 	 	 	PAK6	Pak6	ENSG00000137843	p21 (RAC1) activated kinase 6	chr15:40509629-40569688	This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Iron; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; esophageal adenocarcinoma; bladder cancer; lung cancer	Mice homozygous for a null allele do not exhibit any abnormal phenotype.	Activation of Rac	GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PAK6	https://www.uniprot.org/uniprot/Q9NQU5		https://www.ncbi.nlm.nih.gov/omim/?term=608110	http://www.informatics.jax.org/searchtool/Search.do?query=PAK6&submit=Quick%0D%7620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK6	rs748556	0.506989	0.6702	0.6465	1	0	0	intronic	intronic	intronic	PAK6	PAK6	ENSG00000137843,ENSG00000259288	Na	Na	Na	Na	Na	Na	Het;G>A	377;21|17	Hom;G>A	1104;0|39
N	N	-	15	40565055	40565055	G	A	snp	intronic	 	 	 	 	PAK6	Pak6	ENSG00000137843	p21 (RAC1) activated kinase 6	chr15:40509629-40569688	This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Iron; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; esophageal adenocarcinoma; bladder cancer; lung cancer	Mice homozygous for a null allele do not exhibit any abnormal phenotype.	Activation of Rac	GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PAK6	https://www.uniprot.org/uniprot/Q9NQU5		https://www.ncbi.nlm.nih.gov/omim/?term=608110	http://www.informatics.jax.org/searchtool/Search.do?query=PAK6&submit=Quick%0D%7620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK6	rs2253603	0.454473	0.5733	0.6336	1	0	0	intronic	intronic	intronic	PAK6	PAK6	ENSG00000137843,ENSG00000259288	Na	Na	Na	Na	Na	Na	Het;G>A	869;39|42	Hom;G>A	2251;0|83
N	N	-	15	40590265	40590265	C	G	snp	intronic	 	 	 	 	PLCB2	Plcb2	ENSG00000137841	phospholipase C beta 2	chr15:40570377-40600136		Schizophrenia; Type 2 Diabetes| edema | rosiglitazone; HIV; bronchodilator response; Narcolepsy; dyslexia	Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed.	Presynaptic function of Kainate receptors	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0007202;activation of phospholipase C activity;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050913;sensory perception of bitter taste;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCB2	https://www.uniprot.org/uniprot/Q00722		https://www.ncbi.nlm.nih.gov/omim/?term=604114	http://www.informatics.jax.org/searchtool/Search.do?query=PLCB2&submit=Quick%0D%7618ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCB2	rs2305648	0.434505	0	0	1	0	0	intronic	intronic	intronic	PLCB2	PLCB2	ENSG00000137841	Na	Na	Na	Na	Na	Na	Het;C>G	234;3|8	Hom;C>G	506;0|14
N	N	-	15	40595565	40595565	C	T	snp	intronic	 	 	 	 	PLCB2	Plcb2	ENSG00000137841	phospholipase C beta 2	chr15:40570377-40600136		Schizophrenia; Type 2 Diabetes| edema | rosiglitazone; HIV; bronchodilator response; Narcolepsy; dyslexia	Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed.	Presynaptic function of Kainate receptors	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0007202;activation of phospholipase C activity;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050913;sensory perception of bitter taste;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCB2	https://www.uniprot.org/uniprot/Q00722		https://www.ncbi.nlm.nih.gov/omim/?term=604114	http://www.informatics.jax.org/searchtool/Search.do?query=PLCB2&submit=Quick%0D%7618ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCB2	rs2305645	0.248403	0.3066	0.2718	1	0	0	intronic	intronic	intronic	PLCB2	PLCB2	ENSG00000137841	Na	Na	Na	Na	Na	Na	Het;C>T	417;31|22	Hom;C>T	1800;2|71
N	N	-	15	40758337	40758337	A	C	snp	UTR3	*8A>C	 	 	 	BAHD1	Bahd1	ENSG00000140320	bromo adjacent homology domain containing 1	chr15:40731920-40760441		HIV Infections|[X]Human immunodeficiency virus disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection.		GO:0006342;chromatin silencing;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031507;heterochromatin assembly;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP	GO:0000785;chromatin;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005677;chromatin silencing complex;IDA|GO:0005694;chromosome;IEA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BAHD1	https://www.uniprot.org/uniprot/Q8TBE0		https://www.ncbi.nlm.nih.gov/omim/?term=613880	http://www.informatics.jax.org/searchtool/Search.do?query=BAHD1&submit=Quick%0D%8002ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAHD1	rs3743145	0.124601	0.1645	0.1761	1	0	0	UTR3	UTR3	ncRNA_intronic	BAHD1(NM_001301132:c.*8A>C,NM_014952:c.*8A>C)	BAHD1(uc001zlt.2:c.*8A>C,uc001zlu.2:c.*8A>C,uc010bbp.1:c.*8A>C,uc001zlv.2:c.*8A>C)	ENSG00000259211	Na	Na	Na	Na	Na	Na	Het;A>C	1991;80|85	Hom;A>C	3508;0|122
N	N	-	15	41803914	41803914	A	G	snp	intronic	 	 	 	 	LTK	Ltk	ENSG00000062524	leukocyte receptor tyrosine kinase	chr15:41795836-41806085	The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	Chronic renal failure|Kidney Failure, Chronic	 		GO:0006468;protein phosphorylation;IDA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;IDA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;IDA|GO:0010976;positive regulation of neuron projection development;IMP|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0071300;cellular response to retinoic acid;IMP	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LTK	https://www.uniprot.org/uniprot/P29376		https://www.ncbi.nlm.nih.gov/omim/?term=151520	http://www.informatics.jax.org/searchtool/Search.do?query=LTK&submit=Quick%0D%1089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LTK	rs2254078	0.379992	0	0	1	0	0	intronic	intronic	intronic	LTK	LTK	ENSG00000062524	Na	Na	Na	Na	Na	Na	Het;A>G	508;33|24	Hom;A>G	651;0|23
N	N	-	15	41805115	41805115	G	A	snp	intronic	 	 	 	 	LTK	Ltk	ENSG00000062524	leukocyte receptor tyrosine kinase	chr15:41795836-41806085	The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	Chronic renal failure|Kidney Failure, Chronic	 		GO:0006468;protein phosphorylation;IDA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;IDA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;IDA|GO:0010976;positive regulation of neuron projection development;IMP|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0071300;cellular response to retinoic acid;IMP	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LTK	https://www.uniprot.org/uniprot/P29376		https://www.ncbi.nlm.nih.gov/omim/?term=151520	http://www.informatics.jax.org/searchtool/Search.do?query=LTK&submit=Quick%0D%1089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LTK	rs2253936	0.487819	0.5038	0.4617	1	0	0	intronic	intronic	intronic	LTK	LTK	ENSG00000062524	Na	Na	Na	Na	Na	Na	Het;G>A	1197;64|59	Hom;G>A	2732;0|99
N	N	-	15	41809086	41809086	C	A	snp	downstream	 	 	 	 	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs10851405	0.468051	0	0	1	0	0	downstream	downstream	downstream	RPAP1	RPAP1	ENSG00000103932	Na	Na	Na	Na	Na	Na	Het;C>A	187;8|10	Hom;C>A	410;0|15
N	N	-	15	41814172	41814172	G	C	snp	synonymous SNV	C39G	L13L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs2289740	0.496805	0	0	1	0	0	intronic	exonic	intronic	RPAP1	RPAP1	ENSG00000103932	Na	synonymous SNV	Na	Na	RPAP1:uc031qrm.1:exon2:c.C39G:p.L13L,	Na	Het;G>C	595;32|27	Hom;G>C	1762;0|57
N	N	-	15	41816190	41816190	T	G	snp	intronic	 	 	 	 	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs2297378	0.544129	0.5604	0.5397	1	0	0	intronic	intronic	intronic	RPAP1	RPAP1	ENSG00000103932	Na	Na	Na	Na	Na	Na	Het;T>G	877;17|32	Hom;T>G	1530;0|49
N	N	-	15	41817367	41817367	A	G	snp	intronic	 	 	 	 	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs2274858	0.540735	0.5654	0.5449	1	0	0	intronic	intronic	intronic	RPAP1	RPAP1	ENSG00000103932	Na	Na	Na	Na	Na	Na	Het;A>G	632;30|28	Hom;A>G	1821;0|64
N	N	-	15	41819283	41819283	G	A	snp	intronic	 	 	 	 	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs2297379	0.324681	0.3517	0.3932	1	0	0	intronic	intronic	intronic	RPAP1	RPAP1	ENSG00000103932	Na	Na	Na	Na	Na	Na	Het;G>A	1005;80|50	Hom;G>A	3323;2|124
N	N	-	15	41819716	41819716	C	T	snp	nonsynonymous SNV	G1516A	E506K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs1200345	0.509984	0.5473	0.5073	0.62	8	13	exonic	exonic	exonic	RPAP1	RPAP1	ENSG00000103932	nonsynonymous SNV	nonsynonymous SNV	unknown	RPAP1:NM_015540:exon12:c.G1516A:p.E506K,	RPAP1:uc001zod.3:exon12:c.G1516A:p.E506K,	UNKNOWN	Het;C>T	630;47|34	Hom;C>T	1793;0|70
N	N	-	15	41821752	41821752	T	C	snp	synonymous SNV	A1074G	R358R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs1200349	0.511382	0.5478	0.5222	1	0	0	exonic	exonic	exonic	RPAP1	RPAP1	ENSG00000103932	synonymous SNV	synonymous SNV	unknown	RPAP1:NM_015540:exon9:c.A1074G:p.R358R,	RPAP1:uc001zod.3:exon9:c.A1074G:p.R358R,	UNKNOWN	Het;T>C	661;39|35	Hom;T>C	1328;0|48
N	N	-	15	41822323	41822323	C	T	snp	intronic	 	 	 	 	RPAP1	Rpap1	ENSG00000103932	RNA polymerase II associated protein 1	chr15:41809374-41836467	This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP1	https://www.uniprot.org/uniprot/Q9BWH6		https://www.ncbi.nlm.nih.gov/omim/?term=611475	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1	rs11632399	0.511581	0	0	1	0	0	intronic	intronic	intronic	RPAP1	RPAP1	ENSG00000103932	Na	Na	Na	Na	Na	Na	Het;C>T	175;3|7	Hom;C>T	168;0|6
N	N	-	15	41857303	41857303	T	C	snp	synonymous SNV	T747C	A249A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TYRO3	Tyro3	ENSG00000092445	TYRO3 protein tyrosine kinase	chr15:41849873-41871536	The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]	atherosclerosis	Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity, and aberrant apoptosis.		GO:0001779;natural killer cell differentiation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;NAS|GO:0007283;spermatogenesis;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;NAS|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021885;forebrain cell migration;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030168;platelet activation;IEA|GO:0032940;secretion by cell;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0042698;ovulation cycle;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0043491;protein kinase B signaling;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045824;negative regulation of innate immune response;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0051250;negative regulation of lymphocyte activation;IEA|GO:0060068;vagina development;IEA|GO:0070050;neuron cellular homeostasis;IEA|GO:0070527;platelet aggregation;IEA	GO:0005634;nucleus;ISS|GO:0005635;nuclear envelope;ISS|GO:0005789;endoplasmic reticulum membrane;ISS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0001618;virus receptor activity;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TYRO3	https://www.uniprot.org/uniprot/Q06418		https://www.ncbi.nlm.nih.gov/omim/?term=600341	http://www.informatics.jax.org/searchtool/Search.do?query=TYRO3&submit=Quick%0D%2193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TYRO3	rs2277536	0.267173	0.2572	0.2746	1	0	0	exonic	exonic	exonic	TYRO3	TYRO3	ENSG00000092445	synonymous SNV	synonymous SNV	unknown	TYRO3:NM_006293:exon6:c.T747C:p.A249A,	TYRO3:uc001zof.2:exon6:c.T747C:p.A249A,	UNKNOWN	Het;T>C	1319;62|61	Hom;T>C	3101;0|113
N	N	-	15	42032383	42032383	C	G	snp	nonsynonymous SNV	C4567G	P1523A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	MGA	Mga	ENSG00000174197	MGA, MAX dimerization protein	chr15:41913422-42062141			Embryos homozygous for a gene trap allele die shortly after implantation due to defective development of the inner cell mass (ICM) and the epiblast. ICM derivatives fail to develop past E4.5 and show increased apoptosis but no change in cell proliferation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0071339;MLL1 complex;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGA			https://www.ncbi.nlm.nih.gov/omim/?term=616061	http://www.informatics.jax.org/searchtool/Search.do?query=MGA&submit=Quick%0D%13487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGA	rs17677991	0.301318	0.3078	0.3371	0.62	8	13	exonic	exonic	exonic	MGA	MGA	ENSG00000174197	nonsynonymous SNV	nonsynonymous SNV	unknown	MGA:NM_001164273:exon14:c.C4567G:p.P1523A,MGA:NM_001080541:exon14:c.C4567G:p.P1523A,	MGA:uc010ucz.2:exon14:c.C4567G:p.P1523A,MGA:uc010ucy.2:exon14:c.C4567G:p.P1523A,MGA:uc010uda.1:exon3:c.C415G:p.P139A,	UNKNOWN	Het;C>G	842;97|49	Hom;C>G	3239;0|117
N	N	-	15	42109975	42109975	T	G	snp	intronic	 	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs2303518	0.298323	0.3008	0.3405	1	0	0	intronic	intronic	intronic	MAPKBP1	MAPKBP1	ENSG00000137802	Na	Na	Na	Na	Na	Na	Het;T>G	1217;37|49	Hom;T>G	2063;0|73
N	N	-	15	42111298	42111298	C	G	snp	intronic	 	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs890498	0.244808	0	0	1	0	0	intronic	intronic	intronic	MAPKBP1	MAPKBP1	ENSG00000137802	Na	Na	Na	Na	Na	Na	Het;C>G	266;7|9	Hom;C>G	824;0|23
N	N	-	15	42111753	42111753	G	GC	indel	frameshift substitution	37_37delinsGC	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs58865566	0.441094	0	0.3466	1	0	0	intronic	exonic	intronic	MAPKBP1	MAPKBP1	ENSG00000137802	Na	frameshift substitution	Na	Na	MAPKBP1:uc010bck.3:exon18:c.37_37delinsGC,	Na	Het;+C	528;3|14	Hom;+C	1663;0|43
N	N	-	15	42115747	42115747	G	C	snp	nonsynonymous SNV	G3719C	R1240P	polar,hydrophilic,charged(+)	hydrophobic,neutral	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs3959569	0.234026	0.2519	0.3065	0.15	2	13	exonic	exonic	exonic	MAPKBP1	MAPKBP1	ENSG00000137802	nonsynonymous SNV	nonsynonymous SNV	unknown	MAPKBP1:NM_001128608:exon30:c.G3719C:p.R1240P,MAPKBP1:NM_014994:exon29:c.G3701C:p.R1234P,	MAPKBP1:uc010bcj.3:exon28:c.G2222C:p.R741P,MAPKBP1:uc010bcl.3:exon21:c.G2222C:p.R741P,MAPKBP1:uc001zoj.4:exon29:c.G3701C:p.R1234P,MAPKBP1:uc010bck.3:exon25:c.G1352C:p.R451P,MAPKBP1:uc010udb.2:exon27:c.G3218C:p.R1073P,MAPKBP1:uc001zok.4:exon30:c.G3719C:p.R1240P,	UNKNOWN	Het;G>C	2321;103|104	Hom;G>C	6317;0|222
N	N	-	15	42116903	42116903	T	C	snp	intronic	 	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs28401754	0.249401	0	0	1	0	0	intronic	intronic	intronic	MAPKBP1	MAPKBP1	ENSG00000137802	Na	Na	Na	Na	Na	Na	Het;T>C	124;1|4	Hom;T>C	228;0|6
N	N	-	15	42118123	42118123	G	C	snp	UTR3	*489G>C	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs3179542	0.296126	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MAPKBP1(NM_001265611:c.*489G>C,NM_014994:c.*489G>C,NM_001128608:c.*489G>C)	MAPKBP1(uc001zoj.4:c.*489G>C,uc001zok.4:c.*489G>C,uc010bcj.3:c.*489G>C,uc010bci.3:c.*489G>C,uc010udb.2:c.*489G>C,uc010bck.3:c.*489G>C,uc010bcl.3:c.*489G>C)	ENSG00000250379	Na	Na	Na	Na	Na	Na	Het;G>C	1550;75|73	Hom;G>C	3497;5|142
N	N	-	15	42118971	42118971	A	G	snp	UTR3	*1337A>G	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs3743024	0.247404	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MAPKBP1(NM_001265611:c.*1337A>G,NM_014994:c.*1337A>G,NM_001128608:c.*1337A>G)	MAPKBP1(uc001zoj.4:c.*1337A>G,uc001zok.4:c.*1337A>G,uc010bcj.3:c.*1337A>G,uc010bci.3:c.*1337A>G,uc010udb.2:c.*1337A>G,uc010bck.3:c.*1337A>G,uc010bcl.3:c.*1337A>G)	ENSG00000250379	Na	Na	Na	Na	Na	Na	Het;A>G	936;47|41	Hom;A>G	2123;1|74
N	N	-	15	42119593	42119593	C	A	snp	UTR3	*1959C>A	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs4924576	0.247604	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MAPKBP1(NM_001265611:c.*1959C>A,NM_014994:c.*1959C>A,NM_001128608:c.*1959C>A)	MAPKBP1(uc001zoj.4:c.*1959C>A,uc001zok.4:c.*1959C>A,uc010bcj.3:c.*1959C>A,uc010bci.3:c.*1959C>A,uc010udb.2:c.*1959C>A,uc010bck.3:c.*1959C>A,uc010bcl.3:c.*1959C>A)	ENSG00000250379	Na	Na	Na	Na	Na	Na	Het;C>A	2119;68|55	Hom;C>A	5198;0|119
N	N	-	15	42119603	42119603	C	T	snp	UTR3	*1969C>T	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs4923914	0.245208	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MAPKBP1(NM_001265611:c.*1969C>T,NM_014994:c.*1969C>T,NM_001128608:c.*1969C>T)	MAPKBP1(uc001zoj.4:c.*1969C>T,uc001zok.4:c.*1969C>T,uc010bcj.3:c.*1969C>T,uc010bci.3:c.*1969C>T,uc010udb.2:c.*1969C>T,uc010bck.3:c.*1969C>T,uc010bcl.3:c.*1969C>T)	ENSG00000250379	Na	Na	Na	Na	Na	Na	Het;C>T	2312;67|60	Hom;C>T	5427;0|118
N	N	-	15	42119606	42119606	C	T	snp	UTR3	*1972C>T	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs4923915	0.247804	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MAPKBP1(NM_001265611:c.*1972C>T,NM_014994:c.*1972C>T,NM_001128608:c.*1972C>T)	MAPKBP1(uc001zoj.4:c.*1972C>T,uc001zok.4:c.*1972C>T,uc010bcj.3:c.*1972C>T,uc010bci.3:c.*1972C>T,uc010udb.2:c.*1972C>T,uc010bck.3:c.*1972C>T,uc010bcl.3:c.*1972C>T)	ENSG00000250379	Na	Na	Na	Na	Na	Na	Het;C>T	2267;68|60	Hom;C>T	5169;0|114
N	N	-	15	42119711	42119711	G	A	snp	UTR3	*2077G>A	 	 	 	MAPKBP1	Mapkbp1	ENSG00000137802	mitogen-activated protein kinase binding protein 1	chr15:42066632-42120053		Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	 		GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1	https://www.uniprot.org/uniprot/O60336	https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616786	http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1	rs2277535	0.247404	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MAPKBP1(NM_001265611:c.*2077G>A,NM_014994:c.*2077G>A,NM_001128608:c.*2077G>A)	MAPKBP1(uc001zoj.4:c.*2077G>A,uc001zok.4:c.*2077G>A,uc010bcj.3:c.*2077G>A,uc010bci.3:c.*2077G>A,uc010udb.2:c.*2077G>A,uc010bck.3:c.*2077G>A,uc010bcl.3:c.*2077G>A)	ENSG00000250379	Na	Na	Na	Na	Na	Na	Het;G>A	1280;54|58	Hom;G>A	3227;2|117
N	N	-	15	42127443	42127443	G	C	snp	intronic	 	 	 	 	JMJD7	Jmjd7	ENSG00000243789	jumonji domain containing 7	chr15:42120283-42129779	This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/JMJD7				http://www.informatics.jax.org/searchtool/Search.do?query=JMJD7&submit=Quick%0D%19809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD7	rs2241523	0.493211	0.5156	0.5409	1	0	0	intronic	intronic	intronic	JMJD7,JMJD7-PLA2G4B	JMJD7,JMJD7-PLA2G4B	ENSG00000168970,ENSG00000243708,ENSG00000243789	Na	Na	Na	Na	Na	Na	Het;G>C	465;20|18	Hom;G>C	1402;1|50
N	N	-	15	42127734	42127734	A	G	snp	intronic	 	 	 	 	JMJD7	Jmjd7	ENSG00000243789	jumonji domain containing 7	chr15:42120283-42129779	This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/JMJD7				http://www.informatics.jax.org/searchtool/Search.do?query=JMJD7&submit=Quick%0D%19809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD7	rs2241522	0.261581	0.2823	0	1	0	0	intronic	intronic	intronic	JMJD7,JMJD7-PLA2G4B	JMJD7,JMJD7-PLA2G4B	ENSG00000168970,ENSG00000243708,ENSG00000243789	Na	Na	Na	Na	Na	Na	Het;A>G	315;16|16	Hom;A>G	707;0|27
N	N	-	15	42128568	42128568	C	G	snp	intronic	 	 	 	 	JMJD7	Jmjd7	ENSG00000243789	jumonji domain containing 7	chr15:42120283-42129779	This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/JMJD7				http://www.informatics.jax.org/searchtool/Search.do?query=JMJD7&submit=Quick%0D%19809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD7	rs2303516	0.248403	0.2394	0.3637	1	0	0	intronic	intronic	intronic	JMJD7,JMJD7-PLA2G4B	JMJD7,JMJD7-PLA2G4B	ENSG00000168970,ENSG00000243708,ENSG00000243789	Na	Na	Na	Na	Na	Na	Het;C>G	78;7|5	Hom;C>G	277;0|10
N	N	-	15	42128855	42128855	T	C	snp	intronic	 	 	 	 	JMJD7	Jmjd7	ENSG00000243789	jumonji domain containing 7	chr15:42120283-42129779	This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/JMJD7				http://www.informatics.jax.org/searchtool/Search.do?query=JMJD7&submit=Quick%0D%19809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD7	rs7166139	0.493011	0	0	1	0	0	intronic	intronic	intronic	JMJD7,JMJD7-PLA2G4B	JMJD7,JMJD7-PLA2G4B	ENSG00000168970,ENSG00000243708,ENSG00000243789	Na	Na	Na	Na	Na	Na	Het;T>C	338;5|12	Hom;T>C	284;0|8
N	N	-	15	42129158	42129158	G	A	snp	intronic	 	 	 	 	JMJD7	Jmjd7	ENSG00000243789	jumonji domain containing 7	chr15:42120283-42129779	This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/JMJD7				http://www.informatics.jax.org/searchtool/Search.do?query=JMJD7&submit=Quick%0D%19809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD7	rs890505	0.248403	0.2689	0.3205	1	0	0	intronic	intronic	intronic	JMJD7,JMJD7-PLA2G4B	JMJD7,JMJD7-PLA2G4B,PLA2G4B	ENSG00000168970,ENSG00000243708,ENSG00000243789	Na	Na	Na	Na	Na	Na	Het;G>A	369;16|17	Hom;G>A	1443;0|53
N	N	-	15	42129176	42129176	T	C	snp	intronic	 	 	 	 	JMJD7	Jmjd7	ENSG00000243789	jumonji domain containing 7	chr15:42120283-42129779	This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/JMJD7				http://www.informatics.jax.org/searchtool/Search.do?query=JMJD7&submit=Quick%0D%19809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD7	rs890504	0.493411	0.5183	0.5218	1	0	0	intronic	intronic	intronic	JMJD7,JMJD7-PLA2G4B	JMJD7,JMJD7-PLA2G4B,PLA2G4B	ENSG00000168970,ENSG00000243708,ENSG00000243789	Na	Na	Na	Na	Na	Na	Het;T>C	290;14|12	Hom;T>C	1354;0|45
N	N	-	15	42129373	42129373	C	G	snp	UTR5;UTR3	-7314C>G	 	 	 	PLA2G4B	Pla2g4b	ENSG00000243708	phospholipase A2 group IVB	chr15:42120283-42140345	This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; HIV	 	XBP1(S) activates chaperone genes	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006954;inflammatory response;NAS|GO:0007567;parturition;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;NAS|GO:0019722;calcium-mediated signaling;NAS|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0046475;glycerophospholipid catabolic process;IDA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;NAS|GO:0005544;calcium-dependent phospholipid binding;NAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4B			https://www.ncbi.nlm.nih.gov/omim/?term=606088	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4B&submit=Quick%0D%19800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4B	rs11547012	0.479633	0.5048	0.5469	1	0	0	UTR3	UTR5;UTR3	UTR3	JMJD7(NM_001114632:c.*19C>G)	PLA2G4B(uc001zoq.4:c.-7314C>G);JMJD7(uc001zon.2:c.*19C>G,uc001zop.1:c.*19C>G)	ENSG00000168970(ENST00000487292:c.*19C>G),ENSG00000243789(ENST00000397299:c.*19C>G,ENST00000408047:c.*19C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	487;12|23	Hom;C>G	1391;0|49
N	N	-	15	42133502	42133502	T	C	snp	intronic	 	 	 	 	JMJD7-PLA2G4B	Pla2g4b	ENSG00000168970	JMJD7-PLA2G4B readthrough	chr15:42120293-42140353	This locus represents naturally-occurring readthrough transcription between the neighboring jumonji domain containing 7 (JMJD7) and phospholipase A2, group IVB (cytosolic) (PLA2G4B) genes. Readthrough transcripts encode fusion proteins that share amino acid sequence with each individual gene product, including a partial JmjC domain and downstream C2 and phospholipase A2 domains. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Oct 2013]	schizophrenia; dyslexia	 					http://www.genecards.org/index.php?path=/Search/keyword/JMJD7-PLA2G4B				http://www.informatics.jax.org/searchtool/Search.do?query=JMJD7-PLA2G4B&submit=Quick%0D%12390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD7-PLA2G4B	rs11635415	0.2498	0.2626	0.3197	1	0	0	intronic	intronic	intronic	JMJD7-PLA2G4B,PLA2G4B	JMJD7-PLA2G4B,PLA2G4B	ENSG00000168970,ENSG00000243708	Na	Na	Na	Na	Na	Na	Het;T>C	764;53|40	Hom;T>C	2054;0|76
N	N	-	15	42143145	42143145	C	CCA	indel	intronic	 	 	 	 	SPTBN5	Sptbn5	ENSG00000137877	spectrin beta, non-erythrocytic 5	chr15:42140345-42186275		Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension	 	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5	https://www.uniprot.org/uniprot/Q9NRC6		https://www.ncbi.nlm.nih.gov/omim/?term=605916	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5	rs35794380	0.479034	0.5111	0.4490	1	0	0	intronic	intronic	intronic	SPTBN5	SPTBN5	ENSG00000137877	Na	Na	Na	Na	Na	Na	Het;+CA	1505;23|40	Hom;+CA	2956;0|69
N	N	-	15	42146189	42146189	C	T	snp	intronic	 	 	 	 	SPTBN5	Sptbn5	ENSG00000137877	spectrin beta, non-erythrocytic 5	chr15:42140345-42186275		Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension	 	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5	https://www.uniprot.org/uniprot/Q9NRC6		https://www.ncbi.nlm.nih.gov/omim/?term=605916	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5	rs62002122	0.234026	0	0	1	0	0	intronic	intronic	intronic	SPTBN5	SPTBN5	ENSG00000137877	Na	Na	Na	Na	Na	Na	Het;C>T	506;31|24	Hom;C>T	1040;0|37
N	N	-	15	42147639	42147639	A	C	snp	intronic	 	 	 	 	SPTBN5	Sptbn5	ENSG00000137877	spectrin beta, non-erythrocytic 5	chr15:42140345-42186275		Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension	 	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5	https://www.uniprot.org/uniprot/Q9NRC6		https://www.ncbi.nlm.nih.gov/omim/?term=605916	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5	rs2305655	0.619409	0.5848	0.6638	1	0	0	intronic	intronic	intronic	SPTBN5	SPTBN5	ENSG00000137877	Na	Na	Na	Na	Na	Na	Het;A>C	629;27|27	Hom;A>C	1442;0|51
N	N	-	15	42149472	42149472	T	C	snp	nonsynonymous SNV	A8585G	Q2862R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	SPTBN5	Sptbn5	ENSG00000137877	spectrin beta, non-erythrocytic 5	chr15:42140345-42186275		Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension	 	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5	https://www.uniprot.org/uniprot/Q9NRC6		https://www.ncbi.nlm.nih.gov/omim/?term=605916	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5	rs1456235	0.524361	0.4178	0.6029	0.08	1	13	exonic	exonic	exonic	SPTBN5	SPTBN5	ENSG00000137877	nonsynonymous SNV	nonsynonymous SNV	unknown	SPTBN5:NM_016642:exon51:c.A8585G:p.Q2862R,	SPTBN5:uc001zos.4:exon51:c.A8585G:p.Q2862R,	UNKNOWN	Het;T>C	703;29|32	Hom;T>C	1201;0|41
N	N	-	15	42149506	42149506	G	C	snp	nonsynonymous SNV	C8551G	Q2851E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	SPTBN5	Sptbn5	ENSG00000137877	spectrin beta, non-erythrocytic 5	chr15:42140345-42186275		Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension	 	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5	https://www.uniprot.org/uniprot/Q9NRC6		https://www.ncbi.nlm.nih.gov/omim/?term=605916	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5	rs12442525	0.470847	0.3572	0.5276	0.31	4	13	exonic	exonic	exonic	SPTBN5	SPTBN5	ENSG00000137877	nonsynonymous SNV	nonsynonymous SNV	unknown	SPTBN5:NM_016642:exon51:c.C8551G:p.Q2851E,	SPTBN5:uc001zos.4:exon51:c.C8551G:p.Q2851E,	UNKNOWN	Het;G>C	674;32|30	Hom;G>C	1861;0|60
N	N	-	15	42166500	42166500	C	T	snp	nonsynonymous SNV	G4679A	R1560H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	SPTBN5	Sptbn5	ENSG00000137877	spectrin beta, non-erythrocytic 5	chr15:42140345-42186275		Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension	 	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5	https://www.uniprot.org/uniprot/Q9NRC6		https://www.ncbi.nlm.nih.gov/omim/?term=605916	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5	rs12593397	0.395168	0.3297	0.4465	0.08	1	13	exonic	exonic	exonic	SPTBN5	SPTBN5	ENSG00000137877	nonsynonymous SNV	nonsynonymous SNV	unknown	SPTBN5:NM_016642:exon24:c.G4679A:p.R1560H,	SPTBN5:uc001zos.4:exon24:c.G4679A:p.R1560H,	UNKNOWN	Het;C>T	343;24|17	Hom;C>T	738;0|29
N	N	-	15	42437711	42437711	T	C	snp	intronic	 	 	 	 	PLA2G4F	Pla2g4f	ENSG00000168907	phospholipase A2 group IVF	chr15:42433332-42448839		Type 2 Diabetes| edema | rosiglitazone	Lung fibroblasts from homozygous mutant mice show a normal response to the calcium ionophore A23187.	Hydrolysis of LPC	GO:0001516;prostaglandin biosynthetic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0050482;arachidonic acid secretion;IEA|GO:0071236;cellular response to antibiotic;IEA|GO:0071407;cellular response to organic cyclic compound;IEA	GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031982;vesicle;IEA|GO:0032587;ruffle membrane;IEA	GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4F				http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4F&submit=Quick%0D%12372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4F	rs621560	0.414137	0	0	1	0	0	intronic	intronic	intronic	PLA2G4F	PLA2G4F	ENSG00000168907	Na	Na	Na	Na	Na	Na	Het;T>C	242;7|11	Hom;T>C	194;0|7
N	N	-	15	42439376	42439376	G	A	snp	synonymous SNV	C1365T	S455S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PLA2G4F	Pla2g4f	ENSG00000168907	phospholipase A2 group IVF	chr15:42433332-42448839		Type 2 Diabetes| edema | rosiglitazone	Lung fibroblasts from homozygous mutant mice show a normal response to the calcium ionophore A23187.	Hydrolysis of LPC	GO:0001516;prostaglandin biosynthetic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0050482;arachidonic acid secretion;IEA|GO:0071236;cellular response to antibiotic;IEA|GO:0071407;cellular response to organic cyclic compound;IEA	GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031982;vesicle;IEA|GO:0032587;ruffle membrane;IEA	GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4F				http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4F&submit=Quick%0D%12372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4F	rs4923929	0.409744	0.4926	0.4376	1	0	0	exonic	exonic	exonic	PLA2G4F	PLA2G4F	ENSG00000168907	synonymous SNV	synonymous SNV	unknown	PLA2G4F:NM_213600:exon13:c.C1365T:p.S455S,	PLA2G4F:uc001zoz.3:exon13:c.C1365T:p.S455S,PLA2G4F:uc001zpa.3:exon12:c.C618T:p.S206S,PLA2G4F:uc001zoy.3:exon2:c.C261T:p.S87S,PLA2G4F:uc010bcs.3:exon13:c.C726T:p.S242S,PLA2G4F:uc010bcr.3:exon13:c.C618T:p.S206S,	UNKNOWN	Het;G>A	1530;55|70	Hom;G>A	3905;0|148
N	N	-	15	42529892	42529892	C	CT	indel	intronic	 	 	 	 	TMEM87A	Tmem87a	ENSG00000103978	transmembrane protein 87A	chr15:42502730-42565861		Stroke	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM87A	https://www.uniprot.org/uniprot/Q8NBN3			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM87A&submit=Quick%0D%3066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM87A	rs66512609	0.573882	0	0	1	0	0	intronic	intronic	intronic	TMEM87A	TMEM87A	ENSG00000103978	Na	Na	Na	Na	Na	Na	Het;+T	123;4|10	Hom;+T	124;1|8
N	N	-	15	42553218	42553219	AT	A	indel	intronic	 	 	 	 	TMEM87A	Tmem87a	ENSG00000103978	transmembrane protein 87A	chr15:42502730-42565861		Stroke	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM87A	https://www.uniprot.org/uniprot/Q8NBN3			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM87A&submit=Quick%0D%3066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM87A	rs5812215	0.913339	0.9381	0.9640	1	0	0	intronic	intronic	intronic	TMEM87A	TMEM87A	ENSG00000103978	Na	Na	Na	Na	Na	Na	Het;-T	1440;10|68	Hom;-T	1753;8|79
N	N	-	15	42564369	42564369	C	T	snp	intronic	 	 	 	 	TMEM87A	Tmem87a	ENSG00000103978	transmembrane protein 87A	chr15:42502730-42565861		Stroke	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM87A	https://www.uniprot.org/uniprot/Q8NBN3			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM87A&submit=Quick%0D%3066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM87A	rs4244587	0.64357	0.7163	0.7835	1	0	0	intronic	intronic	intronic	TMEM87A	TMEM87A	ENSG00000103978	Na	Na	Na	Na	Na	Na	Het;C>T	166;13|9	Hom;C>T	1896;0|43
N	N	-	15	42570718	42570718	A	G	snp	nonsynonymous SNV	A131G	Q44R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	GANC	Ganc	ENSG00000214013	glucosidase alpha, neutral C	chr15:42565431-42645864	Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]	longevity	 		GO:0000023;maltose metabolic process;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032450;maltose alpha-glucosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GANC			https://www.ncbi.nlm.nih.gov/omim/?term=104180	http://www.informatics.jax.org/searchtool/Search.do?query=GANC&submit=Quick%0D%18200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GANC	rs8024732	0.644369	0.7175	0.7816	0.15	2	13	exonic	exonic	exonic	GANC	GANC	ENSG00000214013	nonsynonymous SNV	nonsynonymous SNV	unknown	GANC:NM_001301409:exon4:c.A131G:p.Q44R,GANC:NM_001301410:exon3:c.A131G:p.Q44R,GANC:NM_198141:exon3:c.A131G:p.Q44R,	GANC:uc010ude.1:exon3:c.A131G:p.Q44R,GANC:uc001zph.3:exon4:c.A131G:p.Q44R,GANC:uc001zpi.3:exon3:c.A131G:p.Q44R,	UNKNOWN	Het;A>G	881;54|41	Hom;A>G	2030;0|75
N	N	-	15	42573067	42573067	C	T	snp	intronic	 	 	 	 	GANC	Ganc	ENSG00000214013	glucosidase alpha, neutral C	chr15:42565431-42645864	Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]	longevity	 		GO:0000023;maltose metabolic process;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032450;maltose alpha-glucosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GANC			https://www.ncbi.nlm.nih.gov/omim/?term=104180	http://www.informatics.jax.org/searchtool/Search.do?query=GANC&submit=Quick%0D%18200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GANC	rs8037020	0.634385	0	0.7234	1	0	0	intronic	intronic	intronic	GANC	GANC	ENSG00000214013	Na	Na	Na	Na	Na	Na	Het;C>T	162;15|7	Hom;C>T	249;0|9
N	N	-	15	42580106	42580106	A	C	snp	intronic	 	 	 	 	GANC	Ganc	ENSG00000214013	glucosidase alpha, neutral C	chr15:42565431-42645864	Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]	longevity	 		GO:0000023;maltose metabolic process;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032450;maltose alpha-glucosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GANC			https://www.ncbi.nlm.nih.gov/omim/?term=104180	http://www.informatics.jax.org/searchtool/Search.do?query=GANC&submit=Quick%0D%18200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GANC	rs8036596	0.645367	0	0	1	0	0	intronic	intronic	intronic	GANC	GANC	ENSG00000214013	Na	Na	Na	Na	Na	Na	Het;A>C	1745;40|68	Hom;A>C	3123;2|106
N	N	-	15	42619508	42619508	C	T	snp	intronic	 	 	 	 	GANC	Ganc	ENSG00000214013	glucosidase alpha, neutral C	chr15:42565431-42645864	Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]	longevity	 		GO:0000023;maltose metabolic process;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032450;maltose alpha-glucosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GANC			https://www.ncbi.nlm.nih.gov/omim/?term=104180	http://www.informatics.jax.org/searchtool/Search.do?query=GANC&submit=Quick%0D%18200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GANC	rs1659215	0.870807	0.8996	0	1	0	0	intronic	intronic	intronic	GANC	GANC	ENSG00000214013	Na	Na	Na	Na	Na	Na	Het;C>T	388;4|16	Hom;C>T	867;0|29
N	N	-	15	42703406	42703406	T	C	snp	ncRNA_intronic	 	 	 	 	AC012651.1																		rs3115884	0.332468	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CAPN3	CAPN3	ENSG00000258461	Na	Na	Na	Na	Na	Na	Het;T>C	231;12|8	Hom;T>C	335;0|9
N	N	-	15	42805000	42805000	G	A	snp	intronic	 	 	 	 	SNAP23	Snap23	ENSG00000092531	synaptosome associated protein 23	chr15:42783431-42837547	Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	several psychiatric disorders; Type 2 diabetes	Mice homozygous for a knock-out allele exhibit lethality prior to E3.5.	Neutrophil degranulation	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0002553;histamine secretion by mast cell;IMP|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006903;vesicle targeting;TAS|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0061025;membrane fusion;TAS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0042629;mast cell granule;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNAP23	https://www.uniprot.org/uniprot/O00161		https://www.ncbi.nlm.nih.gov/omim/?term=602534	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP23&submit=Quick%0D%2196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP23	rs4573906	0.522764	0	0	1	0	0	intronic	intronic	intronic	SNAP23	SNAP23	ENSG00000092531	Na	Na	Na	Na	Na	Na	Het;G>A	97;2|4	Hom;G>A	149;0|5
N	N	-	15	42820451	42820451	C	T	snp	intronic	 	 	 	 	SNAP23	Snap23	ENSG00000092531	synaptosome associated protein 23	chr15:42783431-42837547	Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	several psychiatric disorders; Type 2 diabetes	Mice homozygous for a knock-out allele exhibit lethality prior to E3.5.	Neutrophil degranulation	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0002553;histamine secretion by mast cell;IMP|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006903;vesicle targeting;TAS|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0061025;membrane fusion;TAS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0042629;mast cell granule;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNAP23	https://www.uniprot.org/uniprot/O00161		https://www.ncbi.nlm.nih.gov/omim/?term=602534	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP23&submit=Quick%0D%2196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP23	rs9302112	0.522165	0.5520	0.6760	1	0	0	intronic	intronic	intronic	SNAP23	SNAP23	ENSG00000092531	Na	Na	Na	Na	Na	Na	Het;C>T	315;44|19	Hom;C>T	1768;0|64
N	N	-	15	42851464	42851464	C	T	snp	intronic	 	 	 	 	HAUS2	Haus2	ENSG00000137814	HAUS augmin like complex subunit 2	chr15:42841008-42862192	The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0031023;microtubule organizing center organization;IEA|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005876;spindle microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS2	https://www.uniprot.org/uniprot/Q9NVX0		https://www.ncbi.nlm.nih.gov/omim/?term=613429	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS2&submit=Quick%0D%7607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS2	rs11070374	0.514776	0	0	1	0	0	intronic	intronic	intronic	HAUS2	HAUS2	ENSG00000137814	Na	Na	Na	Na	Na	Na	Het;C>T	521;10|22	Hom;C>T	1066;0|37
N	N	-	15	42873672	42873672	A	G	snp	ncRNA_exonic	 	 	 	 	EIF4EBP2P2																		rs1814518	0.698083	0	0	1	0	0	intronic	intronic	ncRNA_exonic	STARD9	STARD9	ENSG00000260282	Na	Na	Na	Na	Na	Na	Het;A>G	145;7|5	Hom;A>G	474;0|19
N	N	-	15	43488476	43488477	AT	A	indel	UTR3	*1024_*1023delinsT	 	 	 	EPB42	Epb42	ENSG00000166947	erythrocyte membrane protein band 4.2	chr15:43398423-43513481	Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	hereditary spherocytosis (protein 4.2Notame).; erythrocyte band 4.2 deficiency.; ovalostomatocytosis; Iron; hereditary hemolytic anemia; hereditary hemolytic anemia.; hereditary haemolytic anaemia.	Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration.		GO:0000902;cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0008360;regulation of cell shape;IEA|GO:0018149;peptide cross-linking;IEA|GO:0020027;hemoglobin metabolic process;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0048536;spleen development;IEA|GO:0050801;ion homeostasis;IEA|GO:0055072;iron ion homeostasis;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030863;cortical cytoskeleton;IEA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/EPB42		https://hpo.jax.org/app/browse/search?q=EPB42&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=177070	http://www.informatics.jax.org/searchtool/Search.do?query=EPB42&submit=Quick%0D%11915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB42	rs11337946	0	0	0	1	0	0	UTR3	UTR3	UTR3	CCNDBP1(NM_012142:c.*1437_*1438delinsA)	CCNDBP1(uc001zqv.3:c.*1437_*1438delinsA,uc010bdb.3:c.*1437_*1438delinsA,uc010udl.2:c.*1437_*1438delinsA,uc031qrn.1:c.*1437_*1438delinsA,uc021sjt.1:c.*1437_*1438delinsA,uc001zqy.3:c.*1437_*1438delinsA)	ENSG00000166947(ENST00000300215:c.*1024_*1023delinsT)	Na	Na	Na	Na	Na	Na	Het;-T	143;11|15	Hom;-T	514;5|34
N	N	-	15	43637985	43637985	T	C	snp	intronic	 	 	 	 	ADAL	Adal	ENSG00000168803	adenosine deaminase like	chr15:43622872-43646096			 	Purine salvage	GO:0009117;nucleotide metabolic process;IEA|GO:0017144;drug metabolic process;TAS|GO:0043101;purine-containing compound salvage;TAS	GO:0005829;cytosol;TAS	GO:0004000;adenosine deaminase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAL				http://www.informatics.jax.org/searchtool/Search.do?query=ADAL&submit=Quick%0D%12346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAL	rs6493083	0.547125	0	0	1	0	0	intronic	intronic	intronic	ADAL	ADAL	ENSG00000168803	Na	Na	Na	Na	Na	Na	Het;T>C	263;1|12	Hom;T>C	520;0|15
N	N	-	15	43653322	43653322	G	A	snp	synonymous SNV	C1338T	H446H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZSCAN29	Zscan29	ENSG00000140265	zinc finger and SCAN domain containing 29	chr15:43650370-43663223			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29	https://www.uniprot.org/uniprot/Q8IWY8			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29	rs35278805	0.136781	0.1898	0.1663	1	0	0	exonic	exonic	exonic	ZSCAN29	ZSCAN29	ENSG00000140265	synonymous SNV	synonymous SNV	unknown	ZSCAN29:NM_152455:exon5:c.C2508T:p.H836H,	ZSCAN29:uc010bdg.1:exon3:c.C1338T:p.H446H,ZSCAN29:uc001zrj.1:exon4:c.C2148T:p.H716H,ZSCAN29:uc001zrk.1:exon5:c.C2508T:p.H836H,	UNKNOWN	Het;G>A	609;46|31	Hom;G>A	1636;2|59
N	N	-	15	43658935	43658935	C	T	snp	nonsynonymous SNV	G595A	G199S	aliphatic,neutral	polar,hydrophilic,neutral	ZSCAN29	Zscan29	ENSG00000140265	zinc finger and SCAN domain containing 29	chr15:43650370-43663223			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29	https://www.uniprot.org/uniprot/Q8IWY8			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29	rs3917221	0.134984	0.1898	0.1650	0.15	2	13	exonic	exonic	exonic	ZSCAN29	ZSCAN29	ENSG00000140265	nonsynonymous SNV	nonsynonymous SNV	unknown	ZSCAN29:NM_152455:exon3:c.G595A:p.G199S,	ZSCAN29:uc001zrm.3:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrj.1:exon2:c.G235A:p.G79S,ZSCAN29:uc010bdf.1:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrk.1:exon3:c.G595A:p.G199S,	UNKNOWN	Het;C>T	1069;56|50	Hom;C>T	3070;0|110
N	N	-	15	43705670	43705670	C	T	snp	ncRNA_intronic	 	 	 	 	RNU6-28P																		rs12908460	0.128395	0	0	1	0	0	ncRNA_intronic	intronic	intronic	RNU6-28P	TP53BP1	ENSG00000067369	Na	Na	Na	Na	Na	Na	Het;C>T	90;2|4	Hom;C>T	107;0|4
N	N	-	15	43707808	43707808	A	T	snp	synonymous SNV	T5073A	S1691S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TP53BP1	Trp53bp1	ENSG00000067369	tumor protein p53 binding protein 1	chr15:43699407-43802926		Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma	Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.	G2/M DNA damage checkpoint	GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA	GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1	https://www.uniprot.org/uniprot/Q12888		https://www.ncbi.nlm.nih.gov/omim/?term=605230	http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1	rs2230451	0.128594	0.1829	0.1634	1	0	0	exonic	exonic	exonic	TP53BP1	TP53BP1	ENSG00000067369	synonymous SNV	synonymous SNV	unknown	TP53BP1:NM_005657:exon23:c.T5058A:p.S1686S,TP53BP1:NM_001141979:exon23:c.T5073A:p.S1691S,TP53BP1:NM_001141980:exon23:c.T5073A:p.S1691S,	TP53BP1:uc010udq.1:exon23:c.T5073A:p.S1691S,TP53BP1:uc001zrr.4:exon23:c.T5073A:p.S1691S,TP53BP1:uc001zrp.3:exon2:c.T309A:p.S103S,TP53BP1:uc001zrq.4:exon23:c.T5073A:p.S1691S,TP53BP1:uc001zrs.3:exon23:c.T5058A:p.S1686S,TP53BP1:uc010udp.2:exon22:c.T5058A:p.S1686S,	UNKNOWN	Het;A>T	627;35|26	Hom;A>T	2262;0|78
N	N	-	15	43708737	43708737	T	G	snp	UTR5	-206A>C	 	 	 	TP53BP1	Trp53bp1	ENSG00000067369	tumor protein p53 binding protein 1	chr15:43699407-43802926		Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma	Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.	G2/M DNA damage checkpoint	GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA	GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1	https://www.uniprot.org/uniprot/Q12888		https://www.ncbi.nlm.nih.gov/omim/?term=605230	http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1	rs16957715	0.136581	0	0	1	0	0	ncRNA_intronic	UTR5	intronic	RNU6-28P	TP53BP1(uc001zrp.3:c.-206A>C)	ENSG00000067369	Na	Na	Na	Na	Na	Na	Het;T>G	66;6|3	Hom;T>G	343;0|9
N	N	-	15	43730486	43730486	A	G	snp	ncRNA_intronic	 	 	 	 	RNU6-28P																		rs16957730	0.136781	0.1926	0.1665	1	0	0	ncRNA_intronic	intronic	intronic	RNU6-28P	TP53BP1	ENSG00000067369	Na	Na	Na	Na	Na	Na	Het;A>G	542;16|23	Hom;A>G	1178;2|42
N	N	-	15	43773036	43773036	A	C	snp	ncRNA_intronic	 	 	 	 	RNU6-28P																		rs7173383	0.136781	0	0	1	0	0	ncRNA_intronic	intronic	intronic	RNU6-28P	TP53BP1	ENSG00000067369	Na	Na	Na	Na	Na	Na	Het;A>C	359;17|16	Hom;A>C	1426;0|52
N	N	-	15	43815999	43815999	C	T	snp	synonymous SNV	C2328T	P776P	hydrophobic,neutral	hydrophobic,neutral	MAP1A	Map1a	ENSG00000166963	microtubule associated protein 1A	chr15:43803156-43823818	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; schizophrenia	Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration.		GO:0000226;microtubule cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP1A			https://www.ncbi.nlm.nih.gov/omim/?term=600178	http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A	rs3862138	0.13119	0.1809	0.1651	1	0	0	exonic	exonic	exonic	MAP1A	MAP1A	ENSG00000166963	synonymous SNV	synonymous SNV	unknown	MAP1A:NM_002373:exon4:c.C2328T:p.P776P,	MAP1A:uc001zrt.3:exon4:c.C2328T:p.P776P,	UNKNOWN	Het;C>T	495;51|26	Hom;C>T	1893;0|63
N	N	-	15	43817404	43817404	G	A	snp	nonsynonymous SNV	G3733A	D1245N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	MAP1A	Map1a	ENSG00000166963	microtubule associated protein 1A	chr15:43803156-43823818	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; schizophrenia	Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration.		GO:0000226;microtubule cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP1A			https://www.ncbi.nlm.nih.gov/omim/?term=600178	http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A	rs12912505	0.103834	0.1513	0.1566	0.58	7	12	exonic	exonic	exonic	MAP1A	MAP1A	ENSG00000166963	nonsynonymous SNV	nonsynonymous SNV	unknown	MAP1A:NM_002373:exon4:c.G3733A:p.D1245N,	MAP1A:uc001zrt.3:exon4:c.G3733A:p.D1245N,	UNKNOWN	Het;G>A	1757;70|81	Hom;G>A	5513;0|125
N	N	-	15	43818079	43818079	G	A	snp	nonsynonymous SNV	G4408A	A1470T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MAP1A	Map1a	ENSG00000166963	microtubule associated protein 1A	chr15:43803156-43823818	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; schizophrenia	Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration.		GO:0000226;microtubule cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP1A			https://www.ncbi.nlm.nih.gov/omim/?term=600178	http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A	rs62020612	0.13778	0.1892	0.1668	0.08	1	12	exonic	exonic	exonic	MAP1A	MAP1A	ENSG00000166963	nonsynonymous SNV	nonsynonymous SNV	unknown	MAP1A:NM_002373:exon4:c.G4408A:p.A1470T,	MAP1A:uc001zrt.3:exon4:c.G4408A:p.A1470T,	UNKNOWN	Het;G>A	1539;80|72	Hom;G>A	3778;0|137
N	N	-	15	43900153	43900153	C	T	snp	synonymous SNV	G3702A	E1234E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	STRC	Strc	ENSG00000242866	stereocilin	chr15:43891596-44010458	This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]	SPERMATOGENIC FAILURE 7	Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology.		GO:0007160;cell-matrix adhesion;IBA|GO:0007605;sensory perception of sound;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA	GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0032420;stereocilium;IEA|GO:0032426;stereocilium tip;IEA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA		http://www.genecards.org/index.php?path=/Search/keyword/STRC		https://hpo.jax.org/app/browse/search?q=STRC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606440	http://www.informatics.jax.org/searchtool/Search.do?query=STRC&submit=Quick%0D%19747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STRC	rs62018890	0.128395	0.1743	0.1492	1	0	0	exonic	exonic	exonic	STRC	STRC	ENSG00000242866	synonymous SNV	synonymous SNV	unknown	STRC:NM_153700:exon18:c.G3702A:p.E1234E,	STRC:uc001zsf.3:exon18:c.G3702A:p.E1234E,STRC:uc010bdl.3:exon17:c.G1383A:p.E461E,	UNKNOWN	Het;C>T	417;27|22	Hom;C>T	626;2|24
N	N	-	15	43924608	43924608	T	C	snp	intronic	 	 	 	 	CATSPER2	Catsper2	ENSG00000166762	cation channel sperm associated 2	chr15:43920701-43960316	Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]	Tobacco Use Disorder	Homozygous null male mice are infertile due to a sperm motility defect.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0019228;neuronal action potential;IBA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032570;response to progesterone;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036128;CatSper complex;ISS|GO:0042995;cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CATSPER2		https://hpo.jax.org/app/browse/search?q=CATSPER2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607249	http://www.informatics.jax.org/searchtool/Search.do?query=CATSPER2&submit=Quick%0D%11858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPER2	rs56226333	0.11242	0.1555	0.1444	1	0	0	intronic	intronic	intronic	CATSPER2	CATSPER2	ENSG00000166762,ENSG00000242866	Na	Na	Na	Na	Na	Na	Het;T>C	865;45|38	Hom;T>C	1893;0|64
N	N	-	15	43931732	43931732	G	A	snp	UTR3	*751C>T	 	 	 	CATSPER2	Catsper2	ENSG00000166762	cation channel sperm associated 2	chr15:43920701-43960316	Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]	Tobacco Use Disorder	Homozygous null male mice are infertile due to a sperm motility defect.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0019228;neuronal action potential;IBA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032570;response to progesterone;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036128;CatSper complex;ISS|GO:0042995;cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CATSPER2		https://hpo.jax.org/app/browse/search?q=CATSPER2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607249	http://www.informatics.jax.org/searchtool/Search.do?query=CATSPER2&submit=Quick%0D%11858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPER2	rs35740631	0.0948482	0	0	1	0	0	intronic	UTR3	intronic	CATSPER2	CATSPER2(uc001zsk.3:c.*751C>T)	ENSG00000166762,ENSG00000242866	Na	Na	Na	Na	Na	Na	Het;G>A	543;43|25	Hom;G>A	1643;0|58
N	N	-	15	43941456	43941456	C	T	snp	ncRNA_exonic	 	 	 	 	PDIA3P2																		rs112667279	0.0948482	0	0	1	0	0	upstream	upstream	ncRNA_exonic	CATSPER2	CATSPER2	ENSG00000224677	Na	Na	Na	Na	Na	Na	Het;C>T	169;33|12	Hom;C>T	655;0|24
N	N	-	15	43995786	43995786	C	T	snp	ncRNA_exonic	 	 	 	 	STRCP1																		rs3110081	0.238818	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CKMT1A(dist=4366),CATSPER2P1(dist=32360)	CKMT1A(dist=4366),STRC(dist=6886)	ENSG00000166763	Na	Na	Na	Na	Na	Na	Het;C>T	726;33|34	Hom;C>T	2214;2|54
N	N	-	15	44169741	44169741	A	C	snp	ncRNA_exonic	 	 	 	 	PIN4P1																		rs33986791	0.0848642	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	PIN4P1	PIN4P1	ENSG00000171877	Na	Na	Na	Na	Na	Na	Het;A>C	1501;67|65	Hom;A>C	3342;2|110
N	N	-	15	44211868	44211868	G	A	snp	intronic	 	 	 	 	FRMD5	Frmd5	ENSG00000171877	FERM domain containing 5	chr15:44162962-44487450		Triglycerides	 		GO:0008150;biological_process;ND|GO:0030334;regulation of cell migration;IMP|GO:0031032;actomyosin structure organization;IBA|GO:0045785;positive regulation of cell adhesion;IMP|GO:2000146;negative regulation of cell motility;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IBA|GO:0005912;adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IDA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019901;protein kinase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FRMD5			https://www.ncbi.nlm.nih.gov/omim/?term=616309	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD5&submit=Quick%0D%13039ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD5	rs2016840	0.474042	0	0	1	0	0	intronic	intronic	intronic	FRMD5	FRMD5	ENSG00000171877	Na	Na	Na	Na	Na	Na	Het;G>A	186;9|8	Hom;G>A	757;0|23
N	N	-	15	44216559	44216559	C	CT	indel	intronic	 	 	 	 	FRMD5	Frmd5	ENSG00000171877	FERM domain containing 5	chr15:44162962-44487450		Triglycerides	 		GO:0008150;biological_process;ND|GO:0030334;regulation of cell migration;IMP|GO:0031032;actomyosin structure organization;IBA|GO:0045785;positive regulation of cell adhesion;IMP|GO:2000146;negative regulation of cell motility;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IBA|GO:0005912;adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IDA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019901;protein kinase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FRMD5			https://www.ncbi.nlm.nih.gov/omim/?term=616309	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD5&submit=Quick%0D%13039ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD5	rs397807961	0.442492	0.3781	0.3709	1	0	0	intronic	intronic	intronic	FRMD5	FRMD5	ENSG00000171877	Na	Na	Na	Na	Na	Na	Het;+T	337;13|19	Hom;+T	458;2|22
N	N	-	15	44534086	44534087	CT	C	indel	intergenic	 	 	 	 	FRMD5	Frmd5	ENSG00000171877	FERM domain containing 5	chr15:44162962-44487450		Triglycerides	 		GO:0008150;biological_process;ND|GO:0030334;regulation of cell migration;IMP|GO:0031032;actomyosin structure organization;IBA|GO:0045785;positive regulation of cell adhesion;IMP|GO:2000146;negative regulation of cell motility;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IBA|GO:0005912;adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IDA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019901;protein kinase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FRMD5			https://www.ncbi.nlm.nih.gov/omim/?term=616309	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD5&submit=Quick%0D%13039ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD5	rs34578939	0	0	0	1	0	0	intergenic	intergenic	intergenic	FRMD5(dist=46594),CASC4(dist=46822)	FRMD5(dist=46657),CASC4(dist=46822)	ENSG00000171877(dist=46636),ENSG00000203578(dist=29953)	Na	Na	Na	Na	Na	Na	Het;-T	920;10|56	Hom;-T	1221;8|67
N	N	-	15	45361046	45361047	AT	A	indel	intronic	 	 	 	 	SORD	Sord	ENSG00000140263	sorbitol dehydrogenase	chr15:45315302-45369383	Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]	ovarian cancer	Mice homozygous for a functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains.	Catabolism of glucuronate to xylulose-5-phosphate	GO:0006006;glucose metabolic process;TAS|GO:0006060;sorbitol metabolic process;IEA|GO:0006062;sorbitol catabolic process;IDA|GO:0006970;response to osmotic stress;IEA|GO:0009725;response to hormone;IEA|GO:0019640;glucuronate catabolic process to xylulose 5-phosphate;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0031667;response to nutrient levels;IEA|GO:0042493;response to drug;IEA|GO:0046370;fructose biosynthetic process;TAS|GO:0046686;response to cadmium ion;IEA|GO:0046688;response to copper ion;IEA|GO:0051160;L-xylitol catabolic process;IDA|GO:0051164;L-xylitol metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005615;extracellular space;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IDA|GO:0031514;motile cilium;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003939;L-iditol 2-dehydrogenase activity;EXP|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0030246;carbohydrate binding;NAS|GO:0042802;identical protein binding;IPI|GO:0046526;D-xylulose reductase activity;EXP|GO:0046872;metal ion binding;IEA|GO:0051287;NAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SORD	https://www.uniprot.org/uniprot/Q00796		https://www.ncbi.nlm.nih.gov/omim/?term=182500	http://www.informatics.jax.org/searchtool/Search.do?query=SORD&submit=Quick%0D%7989ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORD	rs567815420	0.667133	0	0.4181	1	0	0	intronic	intronic	intronic	SORD	SORD	ENSG00000140263	Na	Na	Na	Na	Na	Na	Het;-T	159;2|12	Hom;-T	55;0|6
N	N	-	15	45491394	45491394	C	T	snp	ncRNA_intronic	 	 	 	 	AC051619.4																		rs1648299	0.761182	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SHF	SHF	ENSG00000259519	Na	Na	Na	Na	Na	Na	Het;C>T	259;5|9	Hom;C>T	275;0|9
N	N	-	15	45567529	45567529	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101928414																		rs12440356	0.514377	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101928414	SLC28A2	ENSG00000259520	Na	Na	Na	Na	Na	Na	Het;T>C	387;23|16	Hom;T>C	1053;0|33
N	N	-	15	45779810	45779810	G	A	snp	synonymous SNV	C915T	D305D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SLC30A4	Slc30a4	ENSG00000104154	solute carrier family 30 member 4	chr15:45771809-45815005	Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]	bladder cancer; chronic obstructive pulmonary disease; Autism; lung cancer 	Homozygous mutant dams produce zinc-deficient milk that is lethal to all nursing pups. Pleiotropic defects observed in mutant males and females include otolith degeneration, impaired motor coordination, alopecia, and dermatitis.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0009636;response to toxic substance;IDA|GO:0010043;response to zinc ion;IBA|GO:0055069;zinc ion homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:0061088;regulation of sequestering of zinc ion;IDA|GO:0071577;zinc II ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA	GO:0005385;zinc ion transmembrane transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC30A4	https://www.uniprot.org/uniprot/O14863		https://www.ncbi.nlm.nih.gov/omim/?term=602095	http://www.informatics.jax.org/searchtool/Search.do?query=SLC30A4&submit=Quick%0D%3085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC30A4	rs2453531	0.760783	0.7571	0.7149	1	0	0	exonic	exonic	exonic	SLC30A4	SLC30A4	ENSG00000104154	synonymous SNV	synonymous SNV	unknown	SLC30A4:NM_013309:exon6:c.C915T:p.D305D,	SLC30A4:uc001zvj.3:exon6:c.C915T:p.D305D,	UNKNOWN	Het;G>A	619;36|33	Hom;G>A	1895;0|73
N	N	-	15	45951413	45951413	T	A	snp	intronic	 	 	 	 	SQRDL	Sqrdl																	rs56364627	0.295527	0	0	1	0	0	intronic	intronic	intronic	SQRDL	SQRDL	ENSG00000137767,ENSG00000260170	Na	Na	Na	Na	Na	Na	Het;T>A	688;18|23	Hom;T>A	755;0|18
N	N	-	15	49083577	49083577	C	T	snp	intronic	 	 	 	 	CEP152	Cep152	ENSG00000103995	centrosomal protein 152	chr15:49005125-49103343	This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]	Seckel syndrome type 5 (SCKL5)	Embryos homozygous for a null allele exhibit reduced numbers of centrosomes and cilia, increased apoptosis, and midgestation lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007099;centriole replication;IEA|GO:0030030;cell projection organization;IEA|GO:0051298;centrosome duplication;IMP|GO:0097711;ciliary basal body docking;TAS|GO:0098535;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;IEA	GO:0000242;pericentriolar material;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0098536;deuterosome;IEA	GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP152	https://www.uniprot.org/uniprot/O94986	https://hpo.jax.org/app/browse/search?q=CEP152&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613529	http://www.informatics.jax.org/searchtool/Search.do?query=CEP152&submit=Quick%0D%3068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP152	rs58156069	0.344649	0.4128	0.3975	1	0	0	intronic	intronic	intronic	CEP152	CEP152	ENSG00000103995	Na	Na	Na	Na	Na	Na	Het;C>T	564;48|30	Hom;C>T	1889;0|67
N	N	-	15	49118087	49118087	C	T	snp	UTR3	*81G>A	 	 	 	SHC4	Shc4	ENSG00000185634	SHC adaptor protein 4	chr15:49115932-49255641		Apolipoproteins E; Iron; Echocardiography; Heart Failure; Depressive Disorder, Major; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0048863;stem cell differentiation;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030971;receptor tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHC4			https://www.ncbi.nlm.nih.gov/omim/?term=617372	http://www.informatics.jax.org/searchtool/Search.do?query=SHC4&submit=Quick%0D%15454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC4	rs3743292	0.30651	0	0	1	0	0	UTR3	UTR3	UTR3	SHC4(NM_203349:c.*81G>A)	SHC4(uc010uey.1:c.*81G>A,uc010uez.1:c.*81G>A,uc001zxb.1:c.*81G>A)	ENSG00000185634(ENST00000332408:c.*81G>A,ENST00000396535:c.*81G>A,ENST00000537958:c.*81G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	138;9|6	Hom;C>T	626;0|22
N	N	-	15	49135892	49135892	C	T	snp	intronic	 	 	 	 	SHC4	Shc4	ENSG00000185634	SHC adaptor protein 4	chr15:49115932-49255641		Apolipoproteins E; Iron; Echocardiography; Heart Failure; Depressive Disorder, Major; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0048863;stem cell differentiation;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030971;receptor tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHC4			https://www.ncbi.nlm.nih.gov/omim/?term=617372	http://www.informatics.jax.org/searchtool/Search.do?query=SHC4&submit=Quick%0D%15454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC4	rs882824	0.284744	0	0	1	0	0	intronic	intronic	intronic	SHC4	SHC4	ENSG00000185634	Na	Na	Na	Na	Na	Na	Het;C>T	207;1|7	Hom;C>T	462;0|16
N	N	-	15	49149828	49149828	C	T	snp	intronic	 	 	 	 	SHC4	Shc4	ENSG00000185634	SHC adaptor protein 4	chr15:49115932-49255641		Apolipoproteins E; Iron; Echocardiography; Heart Failure; Depressive Disorder, Major; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0048863;stem cell differentiation;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030971;receptor tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHC4			https://www.ncbi.nlm.nih.gov/omim/?term=617372	http://www.informatics.jax.org/searchtool/Search.do?query=SHC4&submit=Quick%0D%15454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC4	rs4774526	0.849042	0	0	1	0	0	intronic	intronic	intronic	SHC4	SHC4	ENSG00000185634	Na	Na	Na	Na	Na	Na	Het;C>T	263;16|13	Hom;C>T	607;0|21
N	N	-	15	50272085	50272085	A	G	snp	intronic	 	 	 	 	ATP8B4	Atp8b4	ENSG00000104043	ATPase phospholipid transporting 8B4 (putative)	chr15:50150435-50475014	This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease	 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA	GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4	https://www.uniprot.org/uniprot/Q8TF62		https://www.ncbi.nlm.nih.gov/omim/?term=609123	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4	rs8034382	0.415935	0	0	1	0	0	intronic	intronic	intronic	ATP8B4	ATP8B4	ENSG00000104043	Na	Na	Na	Na	Na	Na	Het;A>G	120;2|5	Hom;A>G	193;0|7
N	N	-	15	50279662	50279662	T	C	snp	nonsynonymous SNV	A674G	N225S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ATP8B4	Atp8b4	ENSG00000104043	ATPase phospholipid transporting 8B4 (putative)	chr15:50150435-50475014	This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease	 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA	GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4	https://www.uniprot.org/uniprot/Q8TF62		https://www.ncbi.nlm.nih.gov/omim/?term=609123	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4	rs16963151	0.292133	0.2717	0.2507	0.15	2	13	exonic	exonic	exonic	ATP8B4	ATP8B4	ENSG00000104043	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP8B4:NM_024837:exon10:c.A674G:p.N225S,	ATP8B4:uc010ufd.2:exon11:c.A293G:p.N98S,ATP8B4:uc001zxu.3:exon10:c.A674G:p.N225S,ATP8B4:uc010ber.3:exon11:c.A293G:p.N98S,	UNKNOWN	Het;T>C	829;54|42	Hom;T>C	2896;0|107
N	N	-	15	50430523	50430539	GTAGATAGATAGATAGA	G	indel	intronic	 	 	 	 	ATP8B4	Atp8b4	ENSG00000104043	ATPase phospholipid transporting 8B4 (putative)	chr15:50150435-50475014	This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease	 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA	GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4	https://www.uniprot.org/uniprot/Q8TF62		https://www.ncbi.nlm.nih.gov/omim/?term=609123	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4	rs770488391	0	0	0	1	0	0	intergenic	intergenic	intronic	ATP8B4(dist=19104),SLC27A2(dist=43854)	ATP8B4(dist=19104),SLC27A2(dist=43854)	ENSG00000104043	Na	Na	Na	Na	Na	Na	Het;-TAGATAGATAGATAGA	271;1|7	Hom;-TAGATAGATAGATAGA	278;0|7
N	N	-	15	50474766	50474766	A	C	snp	nonsynonymous SNV	A142C	K48Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	SLC27A2	Slc27a2	ENSG00000140284	solute carrier family 27 member 2	chr15:50474393-50528592	The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]	Alzheimer's disease 	Homozygous mutant mice are viable and show no gross morphological abnormalities.	Neutrophil degranulation	GO:0000038;very long-chain fatty acid metabolic process;IEA|GO:0001561;fatty acid alpha-oxidation;TAS|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IDA|GO:0006699;bile acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0042760;very long-chain fatty acid catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044539;long-chain fatty acid import;IDA|GO:0097089;methyl-branched fatty acid metabolic process;IDA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005102;receptor binding;IPI|GO:0005524;ATP binding;IEA|GO:0015245;fatty acid transporter activity;IEA|GO:0016874;ligase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0031957;very long-chain fatty acid-CoA ligase activity;IDA|GO:0050197;phytanate-CoA ligase activity;TAS|GO:0070251;pristanate-CoA ligase activity;TAS|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC27A2	https://www.uniprot.org/uniprot/O14975		https://www.ncbi.nlm.nih.gov/omim/?term=603247	http://www.informatics.jax.org/searchtool/Search.do?query=SLC27A2&submit=Quick%0D%7995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC27A2	rs1648348	0.613019	0.5840	0.6847	0.15	2	13	exonic	exonic	exonic	SLC27A2	SLC27A2	ENSG00000140284	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC27A2:NM_001159629:exon1:c.A142C:p.K48Q,SLC27A2:NM_003645:exon1:c.A142C:p.K48Q,	SLC27A2:uc010bes.3:exon1:c.A142C:p.K48Q,SLC27A2:uc001zxw.3:exon1:c.A142C:p.K48Q,	UNKNOWN	Het;A>C	1270;47|56	Hom;A>C	3269;2|119
N	N	-	15	51017527	51017532	AAAAAC	A	indel	intronic	 	 	 	 	SPPL2A	Sppl2a	ENSG00000138600	signal peptide peptidase like 2A	chr15:50999506-51058005	This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]		Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes.	Regulation of TNFR1 signaling	GO:0006508;proteolysis;IEA|GO:0006509;membrane protein ectodomain proteolysis;IDA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0033619;membrane protein proteolysis;IDA|GO:0050776;regulation of immune response;IMP	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0071458;integral component of cytoplasmic side of endoplasmic reticulum membrane;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;IDA	GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042500;aspartic endopeptidase activity, intramembrane cleaving;TAS|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPPL2A	https://www.uniprot.org/uniprot/Q8TCT8		https://www.ncbi.nlm.nih.gov/omim/?term=608238	http://www.informatics.jax.org/searchtool/Search.do?query=SPPL2A&submit=Quick%0D%7748ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPPL2A	rs140174698	0.442093	0.3946	0.3619	1	0	0	intronic	intronic	intronic	SPPL2A	SPPL2A	ENSG00000138600	Na	Na	Na	Na	Na	Na	Het;-AAAAC	867;34|24	Hom;-AAAAC	3315;0|76
N	N	-	15	51017577	51017577	G	A	snp	intronic	 	 	 	 	SPPL2A	Sppl2a	ENSG00000138600	signal peptide peptidase like 2A	chr15:50999506-51058005	This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]		Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes.	Regulation of TNFR1 signaling	GO:0006508;proteolysis;IEA|GO:0006509;membrane protein ectodomain proteolysis;IDA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0033619;membrane protein proteolysis;IDA|GO:0050776;regulation of immune response;IMP	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0071458;integral component of cytoplasmic side of endoplasmic reticulum membrane;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;IDA	GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042500;aspartic endopeptidase activity, intramembrane cleaving;TAS|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPPL2A	https://www.uniprot.org/uniprot/Q8TCT8		https://www.ncbi.nlm.nih.gov/omim/?term=608238	http://www.informatics.jax.org/searchtool/Search.do?query=SPPL2A&submit=Quick%0D%7748ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPPL2A	rs12910371	0.33127	0	0	1	0	0	intronic	intronic	intronic	SPPL2A	SPPL2A	ENSG00000138600	Na	Na	Na	Na	Na	Na	Het;G>A	387;19|20	Hom;G>A	1561;0|54
N	N	-	15	51217475	51217475	G	A	snp	intronic	 	 	 	 	AP4E1	Ap4e1	ENSG00000081014	adaptor related protein complex 4 epsilon 1 subunit	chr15:51200869-51298097	This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Cerebral palsy spastic quadriplegic type 4	Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/AP4E1	https://www.uniprot.org/uniprot/Q9UPM8	https://hpo.jax.org/app/browse/search?q=AP4E1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607244	http://www.informatics.jax.org/searchtool/Search.do?query=AP4E1&submit=Quick%0D%1752ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4E1	rs2306332	0.570887	0	0	1	0	0	intronic	intronic	intronic	AP4E1	AP4E1	ENSG00000081014	Na	Na	Na	Na	Na	Na	Het;G>A	119;8|6	Hom;G>A	357;0|14
N	N	-	15	51238175	51238175	T	C	snp	ncRNA_exonic	 	 	 	 	DCAF13P3																		rs7162209	0.570288	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DCAF13P3	DCAF13P3	ENSG00000259378	Na	Na	Na	Na	Na	Na	Het;T>C	1670;162|91	Hom;T>C	6036;2|221
N	N	-	15	51293164	51293164	G	GT	indel	intronic	 	 	 	 	AP4E1	Ap4e1	ENSG00000081014	adaptor related protein complex 4 epsilon 1 subunit	chr15:51200869-51298097	This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Cerebral palsy spastic quadriplegic type 4	Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/AP4E1	https://www.uniprot.org/uniprot/Q9UPM8	https://hpo.jax.org/app/browse/search?q=AP4E1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607244	http://www.informatics.jax.org/searchtool/Search.do?query=AP4E1&submit=Quick%0D%1752ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4E1	rs3840015	0.565895	0	0	1	0	0	intronic	intronic	intronic	AP4E1	AP4E1	ENSG00000081014	Na	Na	Na	Na	Na	Na	Het;+T	394;13|15	Hom;+T	834;0|25
N	N	-	15	51502844	51502844	A	C	snp	UTR3	*161T>G	 	 	 	CYP19A1	Cyp19a1	ENSG00000137869	cytochrome P450 family 19 subfamily A member 1	chr15:51500254-51630807	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	bone density; fractures, vertebral; Insulin Resistance|Polycystic Ovary Syndrome; Parkinson's disease ; estrogen and estrogen/testosterone ratio; Dengue Hemorrhagic Fever; bone density; hyperandrogenism; urinary tract symptoms, prostate volume, uroflow and PSA; Osteoporosis, Postmenopausal; Hot Flashes; Stomach Neoplasms; Prostatic Hyperplasia; osteoporosis, postmenopausal; bone density; hormone disturbance; Peripheral Vascular Diseases; Gynecomastia; Degenerative arthropathy |Osteoarthritis; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Puberty, Precocious; estradiol; sex hormone binding globulin; breast cancer; pregnancy loss; prostatic hyperplasia; Migraine Disorders; Endometrial Neoplasms|Obesity; Obesity|Natural Menopause|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Fractures, Spontaneous|Osteoporosis, Postmenopausal; pregnancy loss, recurrent; human spermatogenic defect; rheumatoid arthritis; Abortion, Habitual|Infertility, Female; sex hormones; pharmacogenetic studies; Alzheimer's disease; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; mammographic density ; Obesity|Weight Loss; ovarian cancer ; Adenocarcinoma|Endometrial Neoplasms; testosterone; estradiol; androstenedione; DHEA; progesterone; androgen; diabetes, type 2 insulin metabolic syndrome; Osteoporosis; endometrial cancer ovarian cancer; Adenocarcinoma|Prostatic Neoplasms; Cardiomyopathy, Hypertrophic|Hypertrophy, Left Ventricular; Infection|Inflammation|Premature Birth; Bone Mineral Density; Adenocarcinoma, Bronchiolo-Alveolar|Hyperplasia|Lung Neoplasms|Neoplasm of lung |Precancerous Conditions; infertility, male; male-to-female transsexualism; Fractures, Bone; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; bladder cancer; endometrial cancer; attention deficit disorder conduct disorder oppositional defiant disorder; adult height or insulin resistance; aromatase excess syndrome; Endometrial Neoplasms|; hypertension; bone density; fractures; menarche menopause; Breast Neoplasms; colorectal cancer; androgens estradiol estrogens hot flashes progesterone; breast cancer ; Alopecia; Inflammation|Premature Birth; prostate carcinoma; lung cancer; breast cancer fibroadenoma; ovarian cancer; Hypertension; Hepatopulmonary Syndrome|Liver Cirrhosis; esophageal adenocarcinoma; Amyloid beta-Peptides; Autism; osteoporosis, postmenopausal; menopause; urinary estrogen metabolites; Leiomyoma|Uterine Neoplasms; Lymphoma, Non-Hodgkin; Female pseudohermaphroditism; Alzheimer Disease|Alzheimer's Disease; Infertility|Ovarian Hyperstimulation Syndrome; Body Height; atherosclerosis, coronary; chronic obstructive pulmonary disease; Cadaver|Prostatic Hyperplasia; Hip Fractures; Endometrial Neoplasms; null; mammographic density; Cardiovascular Diseases; breast cancer|prostate cancer; prostate cancer; hormone disturbance; epithelial ovarian cancer ; Maduromycosis|Mycetoma; Chronic renal failure|Kidney Failure, Chronic; endometriosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Premature Birth; menarche; testosterone; androgen; phytoestrogen; Endometriosis; height; arthritis, juvenile; adult male height; Alzheimer's disease ; Alzheimer's Disease; Breast Cancer; bone mass; Carcinoma, Hepatocellular|Liver Neoplasms; Obesity, Morbid; Infertility, Female; aging; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; POF - Premature ovarian failure|Primary Ovarian Insufficiency; polycystic ovarian syndrome; blood pressure, arterial; mamographic density; testicular germ cell tumor; polycystic ovary syndrome; age at natural menopause; obesity	Mice homozygous for various mutations that inactivate the gene exhibit defects affecting fertility including impairments of ovulation, spermiogenesis and mounting behavior.	Endogenous sterols	GO:0002677;negative regulation of chronic inflammatory response;IEA|GO:0006694;steroid biosynthetic process;TAS|GO:0006703;estrogen biosynthetic process;TAS|GO:0006710;androgen catabolic process;IDA|GO:0008209;androgen metabolic process;IEA|GO:0008585;female gonad development;IEA|GO:0010760;negative regulation of macrophage chemotaxis;IEA|GO:0016125;sterol metabolic process;TAS|GO:0030540;female genitalia development;IEA|GO:0030879;mammary gland development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060065;uterus development;IEA|GO:0060736;prostate gland growth;IEA|GO:0061370;testosterone biosynthetic process;IEA|GO:2000866;positive regulation of estradiol secretion;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;TAS|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP19A1	https://www.uniprot.org/uniprot/P11511	https://hpo.jax.org/app/browse/search?q=CYP19A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107910	http://www.informatics.jax.org/searchtool/Search.do?query=CYP19A1&submit=Quick%0D%7625ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP19A1	rs4646	0.664337	0	0.7122	1	0	0	UTR3	UTR3	ncRNA_intronic	CYP19A1(NM_031226:c.*161T>G,NM_000103:c.*161T>G)	CYP19A1(uc001zyz.4:c.*161T>G,uc001zza.4:c.*161T>G)	ENSG00000259240	Na	Na	Na	Na	Na	Na	Het;A>C	927;55|45	Hom;A>C	2002;0|70
N	N	-	15	53427582	53427582	G	A	snp	intergenic	 	 	 	 	AC044791.1																		rs677203	0.720647	0	0	1	0	0	intergenic	intergenic	intergenic	ONECUT1(dist=345373),WDR72(dist=378356)	ONECUT1(dist=345373),WDR72(dist=378356)	ENSG00000259237(dist=5687),ENSG00000166415(dist=378356)	Na	Na	Na	Na	Na	Na	Het;G>A	828;36|43	Hom;G>A	2293;0|89
N	N	-	15	53806782	53806782	T	C	snp	UTR3	*3114A>G	 	 	 	WDR72	Wdr72	ENSG00000166415	WD repeat domain 72	chr15:53805938-54055075	This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]	Creatinine; diabetes, type 1 ; Cholesterol; Fibrinogen; Lipids; Cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Longevity; Stroke; Mental Competency; Body Height	Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight.		GO:0031214;biomineral tissue development;IEA|GO:0070166;enamel mineralization;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDR72		https://hpo.jax.org/app/browse/search?q=WDR72&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613214	http://www.informatics.jax.org/searchtool/Search.do?query=WDR72&submit=Quick%0D%11785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR72	rs72745122	0.08127	0	0	1	0	0	UTR3	UTR3	UTR3	WDR72(NM_001277176:c.*3114A>G,NM_182758:c.*3114A>G)	WDR72(uc031qsd.1:c.*3114A>G,uc002acj.2:c.*3114A>G,uc031qse.1:c.*3114A>G)	ENSG00000166415(ENST00000396328:c.*3114A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1481;49|62	Hom;T>C	3358;0|113
N	N	-	15	53807088	53807088	C	A	snp	UTR3	*2808G>T	 	 	 	WDR72	Wdr72	ENSG00000166415	WD repeat domain 72	chr15:53805938-54055075	This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]	Creatinine; diabetes, type 1 ; Cholesterol; Fibrinogen; Lipids; Cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Longevity; Stroke; Mental Competency; Body Height	Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight.		GO:0031214;biomineral tissue development;IEA|GO:0070166;enamel mineralization;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDR72		https://hpo.jax.org/app/browse/search?q=WDR72&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613214	http://www.informatics.jax.org/searchtool/Search.do?query=WDR72&submit=Quick%0D%11785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR72	rs7175105	0.527157	0	0	1	0	0	UTR3	UTR3	UTR3	WDR72(NM_001277176:c.*2808G>T,NM_182758:c.*2808G>T)	WDR72(uc031qsd.1:c.*2808G>T,uc002acj.2:c.*2808G>T,uc031qse.1:c.*2808G>T)	ENSG00000166415(ENST00000396328:c.*2808G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1498;78|75	Hom;C>A	3328;2|129
N	N	-	15	53808162	53808162	A	G	snp	UTR3	*1734T>C	 	 	 	WDR72	Wdr72	ENSG00000166415	WD repeat domain 72	chr15:53805938-54055075	This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]	Creatinine; diabetes, type 1 ; Cholesterol; Fibrinogen; Lipids; Cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Longevity; Stroke; Mental Competency; Body Height	Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight.		GO:0031214;biomineral tissue development;IEA|GO:0070166;enamel mineralization;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDR72		https://hpo.jax.org/app/browse/search?q=WDR72&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613214	http://www.informatics.jax.org/searchtool/Search.do?query=WDR72&submit=Quick%0D%11785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR72	rs72745124	0.0828674	0	0	1	0	0	UTR3	UTR3	UTR3	WDR72(NM_001277176:c.*1734T>C,NM_182758:c.*1734T>C)	WDR72(uc031qsd.1:c.*1734T>C,uc002acj.2:c.*1734T>C,uc031qse.1:c.*1734T>C)	ENSG00000166415(ENST00000396328:c.*1734T>C,ENST00000557913:c.*1734T>C,ENST00000360509:c.*1734T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1380;67|68	Hom;A>G	3228;1|117
N	N	-	15	56119980	56119985	CACTTT	C	indel	UTR3	*2115_*2110delinsG	 	 	 	NEDD4	Nedd4	ENSG00000069869	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	chr15:56119120-56285944	This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]	Chronic lymphocytic leukemia; Heart Failure; Keloid	Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002250;adaptive immune response;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0006622;protein targeting to lysosome;IDA|GO:0007041;lysosomal transport;IDA|GO:0007399;nervous system development;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0010766;negative regulation of sodium ion transport;IDA|GO:0010768;negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0016567;protein ubiquitination;IEA|GO:0019089;transmission of virus;IMP|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0031175;neuron projection development;IEP|GO:0031623;receptor internalization;IDA|GO:0032801;receptor catabolic process;IDA|GO:0034644;cellular response to UV;IMP|GO:0034765;regulation of ion transmembrane transport;IDA|GO:0042110;T cell activation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0042921;glucocorticoid receptor signaling pathway;IDA|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:0044111;development involved in symbiotic interaction;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046824;positive regulation of nucleocytoplasmic transport;IDA|GO:0048514;blood vessel morphogenesis;IEA|GO:0048814;regulation of dendrite morphogenesis;ISS|GO:0050807;regulation of synapse organization;IEA|GO:0050847;progesterone receptor signaling pathway;IDA|GO:0051592;response to calcium ion;TAS|GO:0070534;protein K63-linked ubiquitination;ISS|GO:1901016;regulation of potassium ion transmembrane transporter activity;IDA|GO:2000650;negative regulation of sodium ion transmembrane transporter activity;IDA	GO:0000151;ubiquitin ligase complex;ISS|GO:0000785;chromatin;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IMP|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;TAS|GO:0043197;dendritic spine;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0019871;sodium channel inhibitor activity;IDA|GO:0019904;protein domain specific binding;IPI|GO:0031698;beta-2 adrenergic receptor binding;IDA|GO:0035255;ionotropic glutamate receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0050815;phosphoserine binding;ISS|GO:0050816;phosphothreonine binding;ISS|GO:0061630;ubiquitin protein ligase activity;IDA|GO:0070063;RNA polymerase binding;IPI|GO:0070064;proline-rich region binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NEDD4	https://www.uniprot.org/uniprot/P46934		https://www.ncbi.nlm.nih.gov/omim/?term=602278	http://www.informatics.jax.org/searchtool/Search.do?query=NEDD4&submit=Quick%0D%1330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEDD4	rs3833005	0.211262	0	0	1	0	0	UTR3	UTR3	UTR3	NEDD4(NM_006154:c.*2115_*2110delinsG,NM_001284338:c.*2115_*2110delinsG,NM_001284340:c.*2115_*2110delinsG,NM_001284339:c.*2115_*2110delinsG,NM_198400:c.*2115_*2110delinsG)	NEDD4(uc002adi.3:c.*2115_*2110delinsG,uc010ugj.2:c.*2115_*2110delinsG,uc002adj.3:c.*2115_*2110delinsG,uc010bfm.3:c.*2115_*2110delinsG,uc002adl.3:c.*2115_*2110delinsG)	ENSG00000069869(ENST00000435532:c.*2115_*2110delinsG,ENST00000508342:c.*2115_*2110delinsG,ENST00000338963:c.*2115_*2110delinsG,ENST00000503468:c.*4275_*4270delinsG,ENST00000508871:c.*2115_*2110delinsG,ENST00000506154:c.*2115_*2110delinsG)	Na	Na	Na	Na	Na	Na	Het;-ACTTT	4053;76|104	Hom;-ACTTT	5286;3|178
N	N	-	15	56121060	56121060	A	C	snp	UTR3	*1035T>G	 	 	 	NEDD4	Nedd4	ENSG00000069869	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	chr15:56119120-56285944	This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]	Chronic lymphocytic leukemia; Heart Failure; Keloid	Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002250;adaptive immune response;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0006622;protein targeting to lysosome;IDA|GO:0007041;lysosomal transport;IDA|GO:0007399;nervous system development;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0010766;negative regulation of sodium ion transport;IDA|GO:0010768;negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0016567;protein ubiquitination;IEA|GO:0019089;transmission of virus;IMP|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0031175;neuron projection development;IEP|GO:0031623;receptor internalization;IDA|GO:0032801;receptor catabolic process;IDA|GO:0034644;cellular response to UV;IMP|GO:0034765;regulation of ion transmembrane transport;IDA|GO:0042110;T cell activation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0042921;glucocorticoid receptor signaling pathway;IDA|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:0044111;development involved in symbiotic interaction;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046824;positive regulation of nucleocytoplasmic transport;IDA|GO:0048514;blood vessel morphogenesis;IEA|GO:0048814;regulation of dendrite morphogenesis;ISS|GO:0050807;regulation of synapse organization;IEA|GO:0050847;progesterone receptor signaling pathway;IDA|GO:0051592;response to calcium ion;TAS|GO:0070534;protein K63-linked ubiquitination;ISS|GO:1901016;regulation of potassium ion transmembrane transporter activity;IDA|GO:2000650;negative regulation of sodium ion transmembrane transporter activity;IDA	GO:0000151;ubiquitin ligase complex;ISS|GO:0000785;chromatin;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IMP|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;TAS|GO:0043197;dendritic spine;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0019871;sodium channel inhibitor activity;IDA|GO:0019904;protein domain specific binding;IPI|GO:0031698;beta-2 adrenergic receptor binding;IDA|GO:0035255;ionotropic glutamate receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0050815;phosphoserine binding;ISS|GO:0050816;phosphothreonine binding;ISS|GO:0061630;ubiquitin protein ligase activity;IDA|GO:0070063;RNA polymerase binding;IPI|GO:0070064;proline-rich region binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NEDD4	https://www.uniprot.org/uniprot/P46934		https://www.ncbi.nlm.nih.gov/omim/?term=602278	http://www.informatics.jax.org/searchtool/Search.do?query=NEDD4&submit=Quick%0D%1330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEDD4	rs9920007	0.21246	0	0	1	0	0	UTR3	UTR3	UTR3	NEDD4(NM_006154:c.*1035T>G,NM_001284338:c.*1035T>G,NM_001284340:c.*1035T>G,NM_001284339:c.*1035T>G,NM_198400:c.*1035T>G)	NEDD4(uc002adi.3:c.*1035T>G,uc010ugj.2:c.*1035T>G,uc002adj.3:c.*1035T>G,uc010bfm.3:c.*1035T>G,uc002adl.3:c.*1035T>G)	ENSG00000069869(ENST00000435532:c.*1035T>G,ENST00000508342:c.*1035T>G,ENST00000338963:c.*1035T>G,ENST00000503468:c.*3195T>G,ENST00000508871:c.*1035T>G,ENST00000506154:c.*1035T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	229;26|13	Hom;A>C	1062;0|36
N	N	-	15	56132616	56132616	C	T	snp	intronic	 	 	 	 	NEDD4	Nedd4	ENSG00000069869	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	chr15:56119120-56285944	This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]	Chronic lymphocytic leukemia; Heart Failure; Keloid	Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002250;adaptive immune response;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0006622;protein targeting to lysosome;IDA|GO:0007041;lysosomal transport;IDA|GO:0007399;nervous system development;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0010766;negative regulation of sodium ion transport;IDA|GO:0010768;negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0016567;protein ubiquitination;IEA|GO:0019089;transmission of virus;IMP|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0031175;neuron projection development;IEP|GO:0031623;receptor internalization;IDA|GO:0032801;receptor catabolic process;IDA|GO:0034644;cellular response to UV;IMP|GO:0034765;regulation of ion transmembrane transport;IDA|GO:0042110;T cell activation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0042921;glucocorticoid receptor signaling pathway;IDA|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:0044111;development involved in symbiotic interaction;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046824;positive regulation of nucleocytoplasmic transport;IDA|GO:0048514;blood vessel morphogenesis;IEA|GO:0048814;regulation of dendrite morphogenesis;ISS|GO:0050807;regulation of synapse organization;IEA|GO:0050847;progesterone receptor signaling pathway;IDA|GO:0051592;response to calcium ion;TAS|GO:0070534;protein K63-linked ubiquitination;ISS|GO:1901016;regulation of potassium ion transmembrane transporter activity;IDA|GO:2000650;negative regulation of sodium ion transmembrane transporter activity;IDA	GO:0000151;ubiquitin ligase complex;ISS|GO:0000785;chromatin;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IMP|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;TAS|GO:0043197;dendritic spine;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0019871;sodium channel inhibitor activity;IDA|GO:0019904;protein domain specific binding;IPI|GO:0031698;beta-2 adrenergic receptor binding;IDA|GO:0035255;ionotropic glutamate receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0050815;phosphoserine binding;ISS|GO:0050816;phosphothreonine binding;ISS|GO:0061630;ubiquitin protein ligase activity;IDA|GO:0070063;RNA polymerase binding;IPI|GO:0070064;proline-rich region binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NEDD4	https://www.uniprot.org/uniprot/P46934		https://www.ncbi.nlm.nih.gov/omim/?term=602278	http://www.informatics.jax.org/searchtool/Search.do?query=NEDD4&submit=Quick%0D%1330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEDD4	rs11858692	0.204273	0.2162	0.2281	1	0	0	intronic	intronic	intronic	NEDD4	NEDD4	ENSG00000069869	Na	Na	Na	Na	Na	Na	Het;C>T	111;24|7	Hom;C>T	1017;0|35
N	N	-	15	57667310	57667310	A	G	snp	intergenic	 	 	 	 	NDUFB10P1																		rs1706398	0.54992	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01413(dist=50073),CGNL1(dist=1393)	LINC00926(dist=67343),CGNL1(dist=1393)	ENSG00000260870(dist=48665),ENSG00000128849(dist=1393)	Na	Na	Na	Na	Na	Na	Het;A>G	645;48|35	Hom;A>G	2052;0|73
N	N	-	15	58000981	58000981	C	T	snp	synonymous SNV	C1374T	A458A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GCOM1		ENSG00000137878	GRINL1A complex locus 1	chr15:57884106-58006943	This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013]	Coronary Disease			GO:0035556;intracellular signal transduction;IEA	GO:0005622;intracellular;IEA|GO:0016591;DNA-directed RNA polymerase II, holoenzyme;IEA|GO:0030864;cortical actin cytoskeleton;IBA|GO:0031674;I band;IBA		http://www.genecards.org/index.php?path=/Search/keyword/GCOM1	https://www.uniprot.org/uniprot/H8Y6P7			http://www.informatics.jax.org/searchtool/Search.do?query=GCOM1&submit=Quick%0D%7631ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCOM1	rs1062707	0.496406	0.6233	0.6751	1	0	0	exonic	exonic	exonic	GCOM1,POLR2M	GCOM1,POLR2M	ENSG00000137878,ENSG00000255529	synonymous SNV	synonymous SNV	unknown	POLR2M:NM_015532:exon2:c.C183T:p.A61A,GCOM1:NM_001285900:exon13:c.C1374T:p.A458A,	GCOM1:uc031qsg.1:exon13:c.C1374T:p.A458A,POLR2M:uc002aet.4:exon2:c.C183T:p.A61A,	UNKNOWN	Het;C>T	1603;51|71	Hom;C>T	2344;2|88
N	N	-	15	58285388	58285388	C	A	snp	intronic	 	 	 	 	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs4646607	0.48722	0	0	1	0	0	intronic	intronic	intronic	ALDH1A2	ALDH1A2	ENSG00000128918	Na	Na	Na	Na	Na	Na	Het;C>A	68;2|3	Hom;C>A	118;0|4
N	N	-	15	58549954	58549954	A	C	snp	intronic	 	 	 	 	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs35348919	0.553514	0	0	1	0	0	intergenic	intronic	intronic	AQP9(dist=71844),LIPC(dist=174221)	ALDH1A2	ENSG00000128918	Na	Na	Na	Na	Na	Na	Het;A>C	89;3|5	Hom;A>C	161;0|6
N	N	-	15	58549978	58549978	A	G	snp	intronic	 	 	 	 	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs34890778	0.552316	0	0	1	0	0	intergenic	intronic	intronic	AQP9(dist=71868),LIPC(dist=174197)	ALDH1A2	ENSG00000128918	Na	Na	Na	Na	Na	Na	Het;A>G	144;6|5	Hom;A>G	287;0|7
N	N	-	15	58549986	58549986	T	C	snp	intronic	 	 	 	 	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs79897868	0.552316	0	0	1	0	0	intergenic	intronic	intronic	AQP9(dist=71876),LIPC(dist=174189)	ALDH1A2	ENSG00000128918	Na	Na	Na	Na	Na	Na	Het;T>C	144;6|4	Hom;T>C	377;0|9
N	N	-	15	58549987	58549987	A	G	snp	intronic	 	 	 	 	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs79011329	0.552316	0	0	1	0	0	intergenic	intronic	intronic	AQP9(dist=71877),LIPC(dist=174188)	ALDH1A2	ENSG00000128918	Na	Na	Na	Na	Na	Na	Het;A>G	122;6|4	Hom;A>G	377;0|9
N	N	-	15	58549993	58549993	C	T	snp	intronic	 	 	 	 	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs74018038	0.552316	0	0	1	0	0	intergenic	intronic	intronic	AQP9(dist=71883),LIPC(dist=174182)	ALDH1A2	ENSG00000128918	Na	Na	Na	Na	Na	Na	Het;C>T	122;5|4	Hom;C>T	332;0|8
N	N	-	15	58550000	58550000	G	A	snp	intronic	 	 	 	 	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs34149555	0.552316	0	0	1	0	0	intergenic	intronic	intronic	AQP9(dist=71890),LIPC(dist=174175)	ALDH1A2	ENSG00000128918	Na	Na	Na	Na	Na	Na	Het;G>A	122;6|4	Hom;G>A	332;0|8
N	N	-	15	59144199	59144199	A	G	snp	intronic	 	 	 	 	FAM63B	Fam63b																	rs16940850	0.46226	0.5802	0.5947	1	0	0	intronic	intronic	intronic	FAM63B	FAM63B	ENSG00000128923	Na	Na	Na	Na	Na	Na	Het;A>G	123;15|7	Hom;A>G	611;1|21
N	N	-	15	59323048	59323048	C	G	snp	nonsynonymous SNV	C27G	N9K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	RNF111	Rnf111	ENSG00000157450	ring finger protein 111	chr15:59157374-59389618	The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]	Echocardiography; Hip	Mice homozygous for a gene trap allele fail to develop anterior structures and midline with failure to develop anterior endoderm, node and mesendoderm.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;IBA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0016567;protein ubiquitination;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IBA|GO:0030579;ubiquitin-dependent SMAD protein catabolic process;IBA|GO:0031398;positive regulation of protein ubiquitination;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0070911;global genome nucleotide-excision repair;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IEA|GO:0043234;protein complex;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0032184;SUMO polymer binding;IDA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RNF111			https://www.ncbi.nlm.nih.gov/omim/?term=605840	http://www.informatics.jax.org/searchtool/Search.do?query=RNF111&submit=Quick%0D%10095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF111	rs2899642	0.231629	0.3308	0.3659	0.23	3	13	exonic	exonic	exonic	RNF111	RNF111	ENSG00000157450	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF111:NM_017610:exon2:c.C27G:p.N9K,RNF111:NM_001270530:exon2:c.C27G:p.N9K,RNF111:NM_001270528:exon2:c.C27G:p.N9K,RNF111:NM_001270529:exon2:c.C27G:p.N9K,	RNF111:uc002afw.4:exon1:c.C27G:p.N9K,RNF111:uc002afu.4:exon2:c.C27G:p.N9K,RNF111:uc002afv.4:exon2:c.C27G:p.N9K,RNF111:uc002aft.4:exon2:c.C27G:p.N9K,RNF111:uc002afs.4:exon2:c.C27G:p.N9K,	UNKNOWN	Het;C>G	529;48|26	Hom;C>G	2309;0|82
N	N	-	15	59431433	59431467	TCCCTCATTATTACTCCTCACACTTCCCTCCCACC	T	indel	intronic	 	 	 	 	MYO1E	Myo1e	ENSG00000157483	myosin IE	chr15:59427113-59665099	This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]	Blood Pressure; Tobacco Use Disorder	Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0003094;glomerular filtration;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0006897;endocytosis;IMP|GO:0030048;actin filament-based movement;TAS|GO:0030097;hemopoiesis;IEA|GO:0032836;glomerular basement membrane development;IEA|GO:0035166;post-embryonic hemopoiesis;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042623;ATPase activity, coupled;TAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1E		https://hpo.jax.org/app/browse/search?q=MYO1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601479	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1E&submit=Quick%0D%10098ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1E	rs540379641	0	0	0	1	0	0	intronic	intronic	intronic	MYO1E	MYO1E	ENSG00000157483	Na	Na	Na	Na	Na	Na	Het;-CCCTCATTATTACTCCTCACACTTCCCTCCCACC	128;1|4	Hom;-CCCTCATTATTACTCCTCACACTTCCCTCCCACC	459;0|11
N	N	-	15	59463957	59463957	A	G	snp	intronic	 	 	 	 	MYO1E	Myo1e	ENSG00000157483	myosin IE	chr15:59427113-59665099	This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]	Blood Pressure; Tobacco Use Disorder	Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0003094;glomerular filtration;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0006897;endocytosis;IMP|GO:0030048;actin filament-based movement;TAS|GO:0030097;hemopoiesis;IEA|GO:0032836;glomerular basement membrane development;IEA|GO:0035166;post-embryonic hemopoiesis;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042623;ATPase activity, coupled;TAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1E		https://hpo.jax.org/app/browse/search?q=MYO1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601479	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1E&submit=Quick%0D%10098ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1E	rs2306789	0.319688	0	0	1	0	0	intronic	intronic	intronic	MYO1E	MYO1E	ENSG00000157483	Na	Na	Na	Na	Na	Na	Het;A>G	38;2|3	Hom;A>G	336;0|11
N	N	-	15	59464039	59464039	G	A	snp	intronic	 	 	 	 	MYO1E	Myo1e	ENSG00000157483	myosin IE	chr15:59427113-59665099	This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]	Blood Pressure; Tobacco Use Disorder	Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0003094;glomerular filtration;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0006897;endocytosis;IMP|GO:0030048;actin filament-based movement;TAS|GO:0030097;hemopoiesis;IEA|GO:0032836;glomerular basement membrane development;IEA|GO:0035166;post-embryonic hemopoiesis;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042623;ATPase activity, coupled;TAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1E		https://hpo.jax.org/app/browse/search?q=MYO1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601479	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1E&submit=Quick%0D%10098ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1E	rs2306788	0.317093	0	0	1	0	0	intronic	intronic	intronic	MYO1E	MYO1E	ENSG00000157483	Na	Na	Na	Na	Na	Na	Het;G>A	537;11|25	Hom;G>A	1680;0|61
N	N	-	15	59515434	59515434	C	T	snp	intronic	 	 	 	 	MYO1E	Myo1e	ENSG00000157483	myosin IE	chr15:59427113-59665099	This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]	Blood Pressure; Tobacco Use Disorder	Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0003094;glomerular filtration;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0006897;endocytosis;IMP|GO:0030048;actin filament-based movement;TAS|GO:0030097;hemopoiesis;IEA|GO:0032836;glomerular basement membrane development;IEA|GO:0035166;post-embryonic hemopoiesis;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042623;ATPase activity, coupled;TAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1E		https://hpo.jax.org/app/browse/search?q=MYO1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601479	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1E&submit=Quick%0D%10098ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1E	rs2306779	0.379992	0.5385	0.5335	1	0	0	intronic	intronic	intronic	MYO1E	MYO1E	ENSG00000157483	Na	Na	Na	Na	Na	Na	Het;C>T	250;21|11	Hom;C>T	1327;0|45
N	N	-	15	59713944	59713944	G	A	snp	intronic	 	 	 	 	FAM81A	Fam81a	ENSG00000157470	family with sequence similarity 81 member A	chr15:59664892-59815748			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM81A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM81A&submit=Quick%0D%10097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM81A	rs12912151	0	0	0	1	0	0	intergenic	intergenic	intronic	MYO1E(dist=48873),FAM81A(dist=16428)	MYO1E(dist=48873),FAM81A(dist=16428)	ENSG00000157470	Na	Na	Na	Na	Na	Na	Het;G>A	119;5|7	Hom;G>A	160;0|8
N	N	-	15	59750930	59750930	G	A	snp	intronic	 	 	 	 	FAM81A	Fam81a	ENSG00000157470	family with sequence similarity 81 member A	chr15:59664892-59815748			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM81A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM81A&submit=Quick%0D%10097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM81A	rs11071448	0.792133	0.7535	0	1	0	0	intronic	intronic	intronic	FAM81A	FAM81A	ENSG00000157470	Na	Na	Na	Na	Na	Na	Het;G>A	285;32|17	Hom;G>A	808;0|29
N	N	-	15	59750960	59750960	A	G	snp	intronic	 	 	 	 	FAM81A	Fam81a	ENSG00000157470	family with sequence similarity 81 member A	chr15:59664892-59815748			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM81A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM81A&submit=Quick%0D%10097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM81A	rs7359171	0.801318	0	0	1	0	0	intronic	intronic	intronic	FAM81A	FAM81A	ENSG00000157470	Na	Na	Na	Na	Na	Na	Het;A>G	247;15|11	Hom;A>G	583;0|19
N	N	-	15	59784493	59784493	C	T	snp	synonymous SNV	C318T	A106A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAM81A	Fam81a	ENSG00000157470	family with sequence similarity 81 member A	chr15:59664892-59815748			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM81A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM81A&submit=Quick%0D%10097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM81A	rs4296198	0.779553	0.7646	0.8097	1	0	0	exonic	exonic	exonic	FAM81A	FAM81A	ENSG00000157470	synonymous SNV	synonymous SNV	unknown	FAM81A:NM_152450:exon4:c.C318T:p.A106A,	FAM81A:uc002agc.2:exon4:c.C318T:p.A106A,	UNKNOWN	Het;C>T	1198;50|55	Hom;C>T	2198;0|80
N	N	-	15	59784648	59784648	A	G	snp	intronic	 	 	 	 	FAM81A	Fam81a	ENSG00000157470	family with sequence similarity 81 member A	chr15:59664892-59815748			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM81A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM81A&submit=Quick%0D%10097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM81A	rs4417505	0.561102	0	0	1	0	0	intronic	intronic	intronic	FAM81A	FAM81A	ENSG00000157470	Na	Na	Na	Na	Na	Na	Het;A>G	648;12|23	Hom;A>G	1161;0|35
N	N	-	15	60418951	60418951	C	CTAT	indel	intergenic	 	 	 	 	AC009654.1																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	FOXB1(dist=120809),ANXA2(dist=220399)	NONE(dist=NONE),ANXA2(dist=220399)	ENSG00000259223(dist=8432),ENSG00000182718(dist=220382)	Na	Na	Na	Na	Na	Na	Het;+TAT	43;15|3	Hom;+TAT	1030;0|25
N	N	-	15	60418952	60418952	C	CTATCT	indel	intergenic	 	 	 	 	AC009654.1																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	FOXB1(dist=120810),ANXA2(dist=220398)	NONE(dist=NONE),ANXA2(dist=220398)	ENSG00000259223(dist=8433),ENSG00000182718(dist=220381)	Na	Na	Na	Na	Na	Na	Het;+TATCT	43;15|3	Hom;+TATCT	1030;0|23
N	N	-	15	60649579	60649580	TC	T	indel	intronic	 	 	 	 	ANXA2	Anxa2	ENSG00000182718	annexin A2	chr15:60639333-60695082	This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; osteonecrosis; prostate cancer; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for disruptions in this gene are viable and fertile but suffer from growth deficits, impaired angiogenesis, and increased susceptibility to thrombosis.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0001525;angiogenesis;IEP|GO:0001765;membrane raft assembly;IMP|GO:0001921;positive regulation of receptor recycling;IDA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006900;membrane budding;IMP|GO:0007589;body fluid secretion;IEA|GO:0030199;collagen fibril organization;IEA|GO:0031340;positive regulation of vesicle fusion;IDA|GO:0032804;negative regulation of low-density lipoprotein particle receptor catabolic process;IDA|GO:0036035;osteoclast development;IDA|GO:0042730;fibrinolysis;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044090;positive regulation of vacuole organization;IMP|GO:0044147;negative regulation of development of symbiont involved in interaction with host;IMP|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0051099;positive regulation of binding;IEA|GO:0051290;protein heterotetramerization;IDA|GO:0052362;catabolism by host of symbiont protein;IMP|GO:0052405;negative regulation by host of symbiont molecular function;IMP|GO:0072661;protein targeting to plasma membrane;IEA|GO:0097066;response to thyroid hormone;IEA|GO:0098609;cell-cell adhesion;IEA|GO:1905581;positive regulation of low-density lipoprotein particle clearance;IDA|GO:1905597;positive regulation of low-density lipoprotein particle receptor binding;IDA|GO:1905599;positive regulation of low-density lipoprotein receptor activity;IMP|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IDA	GO:0001726;ruffle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005938;cell cortex;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016323;basolateral plasma membrane;ISS|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;ISS|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0035749;myelin sheath adaxonal region;IEA|GO:0042383;sarcolemma;IEA|GO:0042470;melanosome;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0043234;protein complex;IEA|GO:0044354;macropinosome;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:1990667;PCSK9-AnxA2 complex;IDA	GO:0002020;protease binding;IPI|GO:0003723;RNA binding;IDA|GO:0004859;phospholipase inhibitor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IMP|GO:0008092;cytoskeletal protein binding;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0019834;phospholipase A2 inhibitor activity;IDA|GO:0030546;receptor activator activity;IDA|GO:0042802;identical protein binding;IPI|GO:0044548;S100 protein binding;IPI|GO:0048306;calcium-dependent protein binding;IPI|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANXA2			https://www.ncbi.nlm.nih.gov/omim/?term=151740	http://www.informatics.jax.org/searchtool/Search.do?query=ANXA2&submit=Quick%0D%14844ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA2	rs5813020	0.760383	0	0	1	0	0	intronic	intronic	intronic	ANXA2	ANXA2	ENSG00000182718	Na	Na	Na	Na	Na	Na	Het;-C	167;1|6	Hom;-C	262;0|8
N	N	-	15	61076591	61076591	A	G	snp	intronic	 	 	 	 	RORA	Rora	ENSG00000069667	RAR related orphan receptor A	chr15:60780483-61521518	The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]	Choroidal Neovascularization|Macular Degeneration; smoking cessation; Sleep Disorders; Tobacco Use Disorder; null; Bipolar Disorder; major depressive disorder; Type 2 Diabetes| edema | rosiglitazone; response to citalopram treatment; depression; bipolar disorder	Homozygotes for null mutations exhibit ataxia, cerebellar dysgenesis, impaired Purkinje and granule cell development, olfactory defects, hypoalphalipoproteinemia, and death around 4 weeks. Heterozygotes show slow Purkinje cell dedritic atrophy and loss.	Interleukin-4 and 13 signaling	GO:0001525;angiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006805;xenobiotic metabolic process;ISS|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007623;circadian rhythm;IEA|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010906;regulation of glucose metabolic process;ISS|GO:0019218;regulation of steroid metabolic process;ISS|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0021930;cerebellar granule cell precursor proliferation;ISS|GO:0030522;intracellular receptor signaling pathway;IDA|GO:0032922;circadian regulation of gene expression;ISS|GO:0036315;cellular response to sterol;IDA|GO:0042692;muscle cell differentiation;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043030;regulation of macrophage activation;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045599;negative regulation of fat cell differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046068;cGMP metabolic process;IEA|GO:0048511;rhythmic process;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0060850;regulation of transcription involved in cell fate commitment;ISS|GO:0070328;triglyceride homeostasis;IMP|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071456;cellular response to hypoxia;IMP|GO:0072539;T-helper 17 cell differentiation;ISS|GO:2000188;regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001222;transcription corepressor binding;IPI|GO:0001223;transcription coactivator binding;IPI|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IPI|GO:0008142;oxysterol binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0098531;transcription factor activity, direct ligand regulated sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RORA	https://www.uniprot.org/uniprot/P35398	https://hpo.jax.org/app/browse/search?q=RORA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600825	http://www.informatics.jax.org/searchtool/Search.do?query=RORA&submit=Quick%0D%1323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RORA	rs877228	0.505192	0	0	1	0	0	intronic	intronic	intronic	RORA	RORA	ENSG00000069667	Na	Na	Na	Na	Na	Na	Het;A>G	434;32|25	Hom;A>G	1301;0|45
N	N	-	15	61871435	61871435	T	C	snp	ncRNA_intronic	 	 	 	 	AC104574.2																		rs8043366	0.871605	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	RORA(dist=349933),VPS13C(dist=273155)	7SK(dist=299560),BC033962(dist=19278)	ENSG00000259616	Na	Na	Na	Na	Na	Na	Het;T>C	525;45|27	Hom;T>C	2215;0|79
N	N	-	15	62146969	62146969	T	A	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs2241491	0.513978	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;T>A	284;8|11	Hom;T>A	571;0|19
N	N	-	15	62160758	62160758	C	A	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs7163441	0.511382	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;C>A	91;2|4	Hom;C>A	118;0|4
N	N	-	15	62167017	62167017	G	A	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs6494299	0.559704	0.5379	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;G>A	370;9|17	Hom;G>A	912;0|31
N	N	-	15	62167897	62167897	G	A	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs12708469	0.511382	0.5222	0.5525	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;G>A	278;5|14	Hom;G>A	566;1|23
N	N	-	15	62169072	62169072	A	G	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs11071634	0.512979	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;A>G	75;3|3	Hom;A>G	265;0|8
N	N	-	15	62172985	62172985	G	A	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs3809517	0.510383	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;G>A	345;13|16	Hom;G>A	806;0|28
N	N	-	15	62199342	62199342	T	A	snp	UTR3	*31A>T	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs28413840	0.513578	0	0.5583	1	0	0	intronic	UTR3	intronic	VPS13C	VPS13C(uc002ahd.1:c.*31A>T)	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;T>A	93;13|5	Hom;T>A	410;0|13
N	N	-	15	62201333	62201334	GA	G	indel	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs35201581	0.328474	0.3850	0.4542	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;-A	1040;27|53	Hom;-A	1529;5|68
N	N	-	15	62202482	62202482	C	T	snp	nonsynonymous SNV	G8609A	S2870N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs10851704	0.516374	0.5229	0.5472	0.15	2	13	exonic	exonic	exonic	VPS13C	VPS13C	ENSG00000129003	nonsynonymous SNV	nonsynonymous SNV	unknown	VPS13C:NM_017684:exon62:c.G8609A:p.S2870N,VPS13C:NM_001018088:exon64:c.G8738A:p.S2913N,VPS13C:NM_018080:exon62:c.G8609A:p.S2870N,VPS13C:NM_020821:exon64:c.G8738A:p.S2913N,	VPS13C:uc002ahc.2:exon62:c.G8609A:p.S2870N,VPS13C:uc002agz.3:exon64:c.G8738A:p.S2913N,VPS13C:uc002ahb.2:exon64:c.G8738A:p.S2913N,VPS13C:uc002aha.3:exon62:c.G8609A:p.S2870N,VPS13C:uc002ahd.1:exon5:c.G869A:p.S290N,	UNKNOWN	Het;C>T	285;20|16	Hom;C>T	1251;0|44
N	N	-	15	62210274	62210274	G	T	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs11071639	0.506589	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;G>T	379;13|19	Hom;G>T	1517;1|54
N	N	-	15	62223273	62223273	C	T	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs9788670	0.550719	0.5361	0.5574	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;C>T	297;16|14	Hom;C>T	829;0|29
N	N	-	15	62232796	62232796	C	T	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs7172838	0.545128	0.5318	0.5614	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;C>T	742;27|34	Hom;C>T	1484;0|52
N	N	-	15	62246554	62246554	T	C	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs17238266	0.095647	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;T>C	450;17|19	Hom;T>C	503;0|18
N	N	-	15	62265019	62265019	A	AT	indel	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs3833020	0.363818	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;+T	464;19|15	Hom;+T	921;0|24
N	N	-	15	62284101	62284101	A	G	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs8032433	0.36242	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;A>G	42;3|2	Hom;A>G	212;0|6
N	N	-	15	62304420	62304426	GACACAC	G	indel	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs140372940	0	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;-ACACAC	89;6|4	Hom;-ACACAC	967;0|24
N	N	-	15	62325518	62325518	A	T	snp	intronic	 	 	 	 	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs12917535	0.560703	0	0	1	0	0	intronic	intronic	intronic	VPS13C	VPS13C	ENSG00000129003	Na	Na	Na	Na	Na	Na	Het;A>T	32;2|3	Hom;A>T	228;0|7
N	N	-	15	62538522	62538522	G	GGA	indel	ncRNA_exonic	 	 	 	 	AC126323.1																		rs3055695	0	0	0	1	0	0	intergenic	UTR3	ncRNA_exonic	C2CD4B(dist=81040),MIR8067(dist=58335)	FLJ38723(uc002ajj.1:c.*192C>TCC)	ENSG00000166104	Na	Na	Na	Na	Na	Na	Het;+GA	636;14|18	Hom;+GA	1133;0|26
N	N	-	15	62538959	62538959	A	G	snp	ncRNA_exonic	 	 	 	 	DQ574151																		rs2955804	0.545527	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_intronic	C2CD4B(dist=81477),MIR8067(dist=57898)	DQ574151	ENSG00000166104	Na	Na	Na	Na	Na	Na	Het;A>G	119;2|5	Hom;A>G	397;0|12
N	N	-	15	62550097	62550097	G	C	snp	downstream	 	 	 	 	DQ576744																		rs2611791	0.542931	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	C2CD4B(dist=92615),MIR8067(dist=46760)	DQ576744,DQ582184	ENSG00000260062	Na	Na	Na	Na	Na	Na	Het;G>C	47;2|3	Hom;G>C	151;0|6
N	N	-	15	62654213	62654213	G	A	snp	downstream	 	 	 	 	HMGN1P26																		rs2414772	0.408946	0	0	1	0	0	intergenic	intergenic	downstream	MIR6085(dist=18876),MGC15885(dist=275158)	DQ587962(dist=97903),MGC15885(dist=275158)	ENSG00000259557	Na	Na	Na	Na	Na	Na	Het;G>A	31;2|2	Hom;G>A	115;0|4
N	N	-	15	62930243	62930243	A	C	snp	ncRNA_exonic	 	 	 	 	MGC15885																		rs6494333	0.32508	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	MGC15885	MGC15885	ENSG00000259458(ENST00000558940:c.*483T>G,ENST00000560347:c.*586T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	1745;83|79	Hom;A>C	5516;2|155
N	N	-	15	62984874	62984874	G	A	snp	intronic	 	 	 	 	TLN2	Tln2	ENSG00000171914	talin 2	chr15:62682725-63136830	This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.		GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0007043;cell-cell junction assembly;TAS|GO:0007155;cell adhesion;NAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IC|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0003779;actin binding;NAS|GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLN2			https://www.ncbi.nlm.nih.gov/omim/?term=607349	http://www.informatics.jax.org/searchtool/Search.do?query=TLN2&submit=Quick%0D%13042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLN2	rs11630525	0.798123	0	0	1	0	0	intronic	intronic	intronic	TLN2	TLN2	ENSG00000171914	Na	Na	Na	Na	Na	Na	Het;G>A	119;3|5	Hom;G>A	113;0|4
N	N	-	15	62994428	62994428	G	C	snp	intronic	 	 	 	 	TLN2	Tln2	ENSG00000171914	talin 2	chr15:62682725-63136830	This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.		GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0007043;cell-cell junction assembly;TAS|GO:0007155;cell adhesion;NAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IC|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0003779;actin binding;NAS|GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLN2			https://www.ncbi.nlm.nih.gov/omim/?term=607349	http://www.informatics.jax.org/searchtool/Search.do?query=TLN2&submit=Quick%0D%13042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLN2	rs12594220	0.8123	0.8340	0.9024	1	0	0	intronic	intronic	intronic	TLN2	TLN2	ENSG00000171914	Na	Na	Na	Na	Na	Na	Het;G>C	397;29|21	Hom;G>C	2092;0|78
N	N	-	15	63009733	63009733	A	G	snp	intronic	 	 	 	 	TLN2	Tln2	ENSG00000171914	talin 2	chr15:62682725-63136830	This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.		GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0007043;cell-cell junction assembly;TAS|GO:0007155;cell adhesion;NAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IC|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0003779;actin binding;NAS|GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLN2			https://www.ncbi.nlm.nih.gov/omim/?term=607349	http://www.informatics.jax.org/searchtool/Search.do?query=TLN2&submit=Quick%0D%13042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLN2	rs938983	0.788538	0.7760	0.7836	1	0	0	intronic	intronic	intronic	TLN2	TLN2	ENSG00000171914	Na	Na	Na	Na	Na	Na	Het;A>G	421;27|20	Hom;A>G	893;0|31
N	N	-	15	63009804	63009804	C	T	snp	synonymous SNV	C2793T	A931A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TLN2	Tln2	ENSG00000171914	talin 2	chr15:62682725-63136830	This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.		GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0007043;cell-cell junction assembly;TAS|GO:0007155;cell adhesion;NAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IC|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0003779;actin binding;NAS|GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLN2			https://www.ncbi.nlm.nih.gov/omim/?term=607349	http://www.informatics.jax.org/searchtool/Search.do?query=TLN2&submit=Quick%0D%13042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLN2	rs1320191	0.739816	0.7228	0.8404	1	0	0	exonic	exonic	exonic	TLN2	TLN2	ENSG00000171914	synonymous SNV	synonymous SNV	unknown	TLN2:NM_015059:exon21:c.C2793T:p.A931A,	TLN2:uc002alb.4:exon21:c.C2793T:p.A931A,	UNKNOWN	Het;C>T	870;52|43	Hom;C>T	2094;0|76
N	N	-	15	63054439	63054439	C	G	snp	intronic	 	 	 	 	TLN2	Tln2	ENSG00000171914	talin 2	chr15:62682725-63136830	This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.		GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0007043;cell-cell junction assembly;TAS|GO:0007155;cell adhesion;NAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IC|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0003779;actin binding;NAS|GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLN2			https://www.ncbi.nlm.nih.gov/omim/?term=607349	http://www.informatics.jax.org/searchtool/Search.do?query=TLN2&submit=Quick%0D%13042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLN2	rs2030040	0.563299	0.6259	0.6310	1	0	0	intronic	intronic	intronic	TLN2	TLN2	ENSG00000171914	Na	Na	Na	Na	Na	Na	Het;C>G	545;16|22	Hom;C>G	958;0|32
N	N	-	15	63075920	63075926	CTGTGTG	C	indel	intronic	 	 	 	 	TLN2	Tln2	ENSG00000171914	talin 2	chr15:62682725-63136830	This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.		GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0007043;cell-cell junction assembly;TAS|GO:0007155;cell adhesion;NAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IC|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0003779;actin binding;NAS|GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLN2			https://www.ncbi.nlm.nih.gov/omim/?term=607349	http://www.informatics.jax.org/searchtool/Search.do?query=TLN2&submit=Quick%0D%13042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLN2	rs202118499	0	0	0.5418	1	0	0	intronic	intronic	intronic	TLN2	TLN2	ENSG00000171914	Na	Na	Na	Na	Na	Na	Het;-TGTGTG	460;30|23	Hom;-TGTGTG	2972;0|72
N	N	-	15	63340989	63340989	C	CG	indel	frameshift substitution	184_184delinsCG	 	 	 	AX747619																		rs148517607	0.226837	0	0.2806	1	0	0	intronic	exonic	ncRNA_exonic	TPM1	AX747619	ENSG00000259498	Na	frameshift substitution	Na	Na	AX747619:uc002alq.1:exon1:c.184_184delinsCG,	Na	Het;+G	313;16|10	Hom;+G	1377;0|33
N	N	-	15	63340990	63340990	C	T	snp	synonymous SNV	G183A	A61A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AX747619																		rs117389407	0.226837	0	0.2823	1	0	0	intronic	exonic	ncRNA_exonic	TPM1	AX747619	ENSG00000259498	Na	synonymous SNV	Na	Na	AX747619:uc002alq.1:exon1:c.G183A:p.A61A,	Na	Het;C>T	322;16|9	Hom;C>T	1386;0|30
N	N	-	15	63351840	63351840	C	A	snp	synonymous SNV	C453A	A151A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TPM1	Tpm1	ENSG00000140416	tropomyosin 1	chr15:63334831-63364114	This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]	idiopathic dilated cardiomyopathy; hypertrophic cardiomyopathy; mean platelet volume; Metabolic Syndrome X; Platelet Count; nemaline myopathy; cardiovascular; Cholesterol, HDL; Cardiomyopathy, Hypertrophic|; Tobacco Use Disorder; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated; Cardiomegaly|Cardiomyopathy, Dilated|; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy; cardiomyopathy; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for disruptions in this gene display embryonic lethality.	Smooth Muscle Contraction	GO:0001701;in utero embryonic development;IEA|GO:0003065;positive regulation of heart rate by epinephrine;ISS|GO:0006928;movement of cell or subcellular component;TAS|GO:0006936;muscle contraction;TAS|GO:0006937;regulation of muscle contraction;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0007015;actin filament organization;IBA|GO:0008016;regulation of heart contraction;TAS|GO:0008360;regulation of cell shape;IMP|GO:0030049;muscle filament sliding;TAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031529;ruffle organization;ISS|GO:0032781;positive regulation of ATPase activity;ISS|GO:0034614;cellular response to reactive oxygen species;IEP|GO:0042060;wound healing;ISS|GO:0045214;sarcomere organization;IMP|GO:0045785;positive regulation of cell adhesion;ISS|GO:0051496;positive regulation of stress fiber assembly;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IMP|GO:1904753;negative regulation of vascular associated smooth muscle cell migration;IMP	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005862;muscle thin filament tropomyosin;TAS|GO:0005884;actin filament;IBA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0031941;filamentous actin;IEA|GO:0032059;bleb;IMP|GO:0032587;ruffle membrane;IDA	GO:0003779;actin binding;TAS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TPM1	https://www.uniprot.org/uniprot/P09493	https://hpo.jax.org/app/browse/search?q=TPM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191010	http://www.informatics.jax.org/searchtool/Search.do?query=TPM1&submit=Quick%0D%8021ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPM1	rs1071646	0.705671	0.6357	0.6737	1	0	0	exonic	exonic	exonic	TPM1	TPM1	ENSG00000140416	synonymous SNV	synonymous SNV	unknown	TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018008:exon3:c.C345A:p.A115A,	TPM1:uc002alg.3:exon4:c.C453A:p.A151A,TPM1:uc002alj.3:exon4:c.C453A:p.A151A,TPM1:uc002alt.3:exon3:c.C345A:p.A115A,TPM1:uc002alp.3:exon4:c.C453A:p.A151A,TPM1:uc010uie.2:exon4:c.C453A:p.A151A,TPM1:uc002all.3:exon4:c.C453A:p.A151A,TPM1:uc002ali.3:exon4:c.C453A:p.A151A,TPM1:uc002alk.3:exon4:c.C453A:p.A151A,TPM1:uc002alm.3:exon5:c.C579A:p.A193A,TPM1:uc010uig.2:exon3:c.C345A:p.A115A,TPM1:uc002alh.3:exon4:c.C453A:p.A151A,TPM1:uc002alr.3:exon3:c.C345A:p.A115A,TPM1:uc002als.3:exon3:c.C345A:p.A115A,TPM1:uc010uif.2:exon3:c.C345A:p.A115A,	UNKNOWN	Het;C>A	463;26|24	Hom;C>A	585;0|22
N	N	-	15	63363654	63363654	A	G	snp	ncRNA_exonic	 	 	 	 	AK055197																		rs8519	0.703874	0	0	1	0	0	UTR3	ncRNA_exonic	ncRNA_intronic	TPM1(NM_001018004:c.*283A>G,NM_001018020:c.*283A>G,NM_001018006:c.*283A>G,NM_001018007:c.*283A>G,NM_001301289:c.*283A>G)	AK055197	ENSG00000259627	Na	Na	Na	Na	Na	Na	Het;A>G	45;2|2	Hom;A>G	171;0|5
N	N	-	15	63433766	63433766	G	A	snp	nonsynonymous SNV	G1406A	R469K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LACTB	Lactb	ENSG00000103642	lactamase beta	chr15:63413999-63434260	This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]	Acquired Immunodeficiency Syndrome|Disease Progression; Drug Hypersensitivity; Metabolism	 			GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA	GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LACTB	https://www.uniprot.org/uniprot/P83111		https://www.ncbi.nlm.nih.gov/omim/?term=608440	http://www.informatics.jax.org/searchtool/Search.do?query=LACTB&submit=Quick%0D%3047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LACTB	rs2729835	0.709864	0.6486	0.6840	0.15	2	13	exonic	exonic	exonic	LACTB	LACTB	ENSG00000103642	nonsynonymous SNV	nonsynonymous SNV	unknown	LACTB:NM_032857:exon6:c.G1406A:p.R469K,	LACTB:uc002alw.3:exon6:c.G1406A:p.R469K,	UNKNOWN	Het;G>A	1128;65|52	Hom;G>A	2698;0|92
N	N	-	15	63434110	63434110	C	T	snp	UTR3	*106C>T	 	 	 	LACTB	Lactb	ENSG00000103642	lactamase beta	chr15:63413999-63434260	This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]	Acquired Immunodeficiency Syndrome|Disease Progression; Drug Hypersensitivity; Metabolism	 			GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA	GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LACTB	https://www.uniprot.org/uniprot/P83111		https://www.ncbi.nlm.nih.gov/omim/?term=608440	http://www.informatics.jax.org/searchtool/Search.do?query=LACTB&submit=Quick%0D%3047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LACTB	rs8468	0.745807	0	0	1	0	0	UTR3	UTR3	UTR3	LACTB(NM_032857:c.*106C>T)	LACTB(uc002alw.3:c.*106C>T)	ENSG00000103642(ENST00000261893:c.*106C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	52;8|3	Hom;C>T	284;0|9
N	N	-	15	63884059	63884059	T	TTGA	indel	ncRNA_intronic	 	 	 	 	USP3-AS1																		rs111497513	0.0625	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	USP3-AS1	USP3-AS1	ENSG00000259248	Na	Na	Na	Na	Na	Na	Het;+TGA	2478;76|64	Hom;+TGA	6550;1|146
N	N	-	15	63884275	63884275	T	C	snp	ncRNA_intronic	 	 	 	 	USP3-AS1																		rs8043465	0.077476	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	USP3-AS1	USP3-AS1	ENSG00000259248	Na	Na	Na	Na	Na	Na	Het;T>C	109;6|4	Hom;T>C	393;0|10
N	N	-	15	63884532	63884533	GT	G	indel	ncRNA_intronic	 	 	 	 	USP3-AS1																		rs11311204	0.563698	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	USP3-AS1	USP3-AS1	ENSG00000259248	Na	Na	Na	Na	Na	Na	Het;-T	2094;16|109	Hom;-T	2668;12|130
N	N	-	15	63884556	63884565	TTGGGGGCGG	T	indel	ncRNA_intronic	 	 	 	 	USP3-AS1																		rs200320067	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	USP3-AS1	USP3-AS1	ENSG00000259248	Na	Na	Na	Na	Na	Na	Het;-TGGGGGCGG	1932;72|53	Hom;-TGGGGGCGG	5648;0|128
N	N	-	15	63886593	63886593	C	T	snp	ncRNA_intronic	 	 	 	 	USP3-AS1																		rs2649	0.0571086	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	USP3-AS1	USP3-AS1	ENSG00000259248	Na	Na	Na	Na	Na	Na	Het;C>T	1653;71|77	Hom;C>T	4385;2|161
N	N	-	15	63889934	63889934	G	C	snp	nonsynonymous SNV	G343C	V115L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FBXL22	Fbxl22	ENSG00000197361	F-box and leucine rich repeat protein 22	chr15:63889552-63894627	This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]	Tobacco Use Disorder	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0016567;protein ubiquitination;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IEA|GO:0030018;Z disc;IEA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FBXL22			https://www.ncbi.nlm.nih.gov/omim/?term=609088	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL22&submit=Quick%0D%16603ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL22	rs8035931	0.0591054	0.0967	0.0998	0.64	7	11	exonic	exonic	exonic	FBXL22	FBXL22	ENSG00000197361	nonsynonymous SNV	nonsynonymous SNV	unknown	FBXL22:NM_203373:exon1:c.G343C:p.V115L,	FBXL22:uc002amm.2:exon1:c.G325C:p.V109L,FBXL22:uc002amn.4:exon1:c.G343C:p.V115L,	UNKNOWN	Het;G>C	483;39|25	Hom;G>C	1382;0|45
N	N	-	15	63907940	63907940	T	C	snp	intronic	 	 	 	 	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs7178853	0.103035	0.1469	0.1221	1	0	0	intronic	intronic	intronic	HERC1	HERC1	ENSG00000103657	Na	Na	Na	Na	Na	Na	Het;T>C	643;41|31	Hom;T>C	2175;0|78
N	N	-	15	63930798	63930798	G	A	snp	intronic	 	 	 	 	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs80088271	0.034345	0	0	1	0	0	intronic	intronic	intronic	HERC1	HERC1	ENSG00000103657	Na	Na	Na	Na	Na	Na	Het;G>A	535;16|25	Hom;G>A	1577;0|56
N	N	-	15	63935030	63935030	G	A	snp	intronic	 	 	 	 	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs76285931	0.028155	0	0	1	0	0	intronic	intronic	intronic	HERC1	HERC1	ENSG00000103657	Na	Na	Na	Na	Na	Na	Het;G>A	212;8|9	Hom;G>A	345;0|11
N	N	-	15	63937657	63937657	G	T	snp	intronic	 	 	 	 	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs8029051	0.0744808	0.0989	0.0891	1	0	0	intronic	intronic	intronic	HERC1	HERC1	ENSG00000103657	Na	Na	Na	Na	Na	Na	Het;G>T	787;51|36	Hom;G>T	2166;0|71
N	N	-	15	63962021	63962021	G	A	snp	intronic	 	 	 	 	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs7175463	0.0960463	0	0	1	0	0	intronic	intronic	intronic	HERC1	HERC1	ENSG00000103657	Na	Na	Na	Na	Na	Na	Het;G>A	95;5|4	Hom;G>A	274;0|8
N	N	-	15	63998863	63998863	T	G	snp	ncRNA_intronic	 	 	 	 	AC073167.1																		rs17186968	0.237819	0	0	1	0	0	intronic	intronic	ncRNA_intronic	HERC1	HERC1	ENSG00000259589	Na	Na	Na	Na	Na	Na	Het;T>G	163;1|5	Hom;T>G	183;0|5
N	N	-	15	64011104	64011104	T	C	snp	intronic	 	 	 	 	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs7176133	0.19349	0.2801	0.2729	1	0	0	intronic	intronic	intronic	HERC1	HERC1	ENSG00000103657	Na	Na	Na	Na	Na	Na	Het;T>C	962;73|46	Hom;T>C	4337;2|149
N	N	-	15	64025473	64025473	A	C	snp	intronic	 	 	 	 	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs1039819	0.178115	0	0	1	0	0	intronic	intronic	intronic	HERC1	HERC1	ENSG00000103657	Na	Na	Na	Na	Na	Na	Het;A>C	115;4|4	Hom;A>C	318;0|9
N	N	-	15	64228156	64228156	C	T	snp	intronic	 	 	 	 	DAPK2	Dapk2	ENSG00000035664	death associated protein kinase 2	chr15:64199235-64364232	This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis.  It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]		 	Ligand-independent caspase activation via DCC	GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0010506;regulation of autophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IDA|GO:0042981;regulation of apoptotic process;TAS|GO:0043276;anoikis;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0090023;positive regulation of neutrophil chemotaxis;IMP|GO:1990266;neutrophil migration;IEA|GO:2000424;positive regulation of eosinophil chemotaxis;IMP|GO:2001242;regulation of intrinsic apoptotic signaling pathway;IMP	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034423;autophagosome lumen;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DAPK2	https://www.uniprot.org/uniprot/Q9UIK4		https://www.ncbi.nlm.nih.gov/omim/?term=616567	http://www.informatics.jax.org/searchtool/Search.do?query=DAPK2&submit=Quick%0D%772ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAPK2	rs1380846	0.725439	0	0	1	0	0	intronic	intronic	intronic	DAPK2	DAPK2	ENSG00000035664	Na	Na	Na	Na	Na	Na	Het;C>T	653;38|30	Hom;C>T	1388;0|51
N	N	-	15	64365021	64365021	A	G	snp	UTR3	*109T>C	 	 	 	FAM96A	Fam96a	ENSG00000166797	family with sequence similarity 96 member A	chr15:64364758-64386217		Cholesterol, LDL	 		GO:0007059;chromosome segregation;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAM96A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM96A&submit=Quick%0D%11865ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM96A	rs332254	0.960863	0	0	1	0	0	UTR3	UTR3	UTR3	FAM96A(NM_001289108:c.*2696T>C,NM_032231:c.*109T>C,NM_001014812:c.*233T>C)	FAM96A(uc002amt.1:c.*109T>C,uc002amu.1:c.*233T>C)	ENSG00000166797(ENST00000300030:c.*109T>C,ENST00000380290:c.*233T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	923;79|43	Hom;A>G	3146;0|109
N	N	-	15	64367745	64367745	T	C	snp	intronic	 	 	 	 	FAM96A	Fam96a	ENSG00000166797	family with sequence similarity 96 member A	chr15:64364758-64386217		Cholesterol, LDL	 		GO:0007059;chromosome segregation;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAM96A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM96A&submit=Quick%0D%11865ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM96A	rs332233	0.375998	0.3048	0.3051	1	0	0	intronic	intronic	intronic	FAM96A	FAM96A	ENSG00000166797	Na	Na	Na	Na	Na	Na	Het;T>C	607;25|29	Hom;T>C	1279;0|36
N	N	-	15	64367775	64367775	T	C	snp	intronic	 	 	 	 	FAM96A	Fam96a	ENSG00000166797	family with sequence similarity 96 member A	chr15:64364758-64386217		Cholesterol, LDL	 		GO:0007059;chromosome segregation;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAM96A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM96A&submit=Quick%0D%11865ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM96A	rs332234	0.917332	0.9136	0.9744	1	0	0	intronic	intronic	intronic	FAM96A	FAM96A	ENSG00000166797	Na	Na	Na	Na	Na	Na	Het;T>C	461;19|22	Hom;T>C	725;0|26
N	N	-	15	64385851	64385851	T	C	snp	synonymous SNV	A117G	E39E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FAM96A	Fam96a	ENSG00000166797	family with sequence similarity 96 member A	chr15:64364758-64386217		Cholesterol, LDL	 		GO:0007059;chromosome segregation;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAM96A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM96A&submit=Quick%0D%11865ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM96A	rs332259	0.916933	0.9123	0.9734	1	0	0	exonic	exonic	exonic	FAM96A	FAM96A	ENSG00000166797	synonymous SNV	synonymous SNV	unknown	FAM96A:NM_001289108:exon1:c.A117G:p.E39E,FAM96A:NM_032231:exon1:c.A117G:p.E39E,FAM96A:NM_001014812:exon1:c.A117G:p.E39E,	FAM96A:uc010uin.2:exon1:c.A117G:p.E39E,FAM96A:uc002amu.1:exon1:c.A117G:p.E39E,FAM96A:uc002amt.1:exon1:c.A117G:p.E39E,	UNKNOWN	Het;T>C	435;21|21	Hom;T>C	1099;0|39
N	N	-	15	64448019	64448019	T	TA	indel	UTR3	*1312T>TA	 	 	 	SNX22	Snx22	ENSG00000157734	sorting nexin 22	chr15:64443914-64449680	The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]		 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNX22				http://www.informatics.jax.org/searchtool/Search.do?query=SNX22&submit=Quick%0D%10124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX22	rs397748288	0.460264	0	0	1	0	0	UTR3	UTR3	UTR3	PPIB(NM_000942:c.*203A>TA),SNX22(NM_024798:c.*1312T>TA)	PPIB(uc002and.3:c.*203A>TA),SNX22(uc002anc.1:c.*1312T>TA)	ENSG00000157734(ENST00000325881:c.*1312T>TA,ENST00000558466:c.*940T>TA),ENSG00000166794(ENST00000300026:c.*203A>TA)	Na	Na	Na	Na	Na	Na	Het;+A	658;43|37	Hom;+A	1639;7|76
N	N	-	15	64657496	64657496	C	T	snp	UTR3	*733G>A	 	 	 	PCLAF																		rs6494476	0.751997	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA0101(NM_001029989:c.*708G>A,NM_014736:c.*733G>A)	KIAA0101(uc002ank.3:c.*733G>A,uc002anl.3:c.*708G>A)	ENSG00000166803(ENST00000300035:c.*733G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	100;5|4	Hom;C>T	464;0|13
N	N	-	15	64679594	64679594	A	T	snp	upstream	 	 	 	 	TRIP4	Trip4	ENSG00000103671	thyroid hormone receptor interactor 4	chr15:64679947-64747502	This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]	Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0030520;intracellular estrogen receptor signaling pathway;IDA|GO:0045661;regulation of myoblast differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:1901998;toxin transport;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0016604;nuclear body;IDA|GO:0031594;neuromuscular junction;IMP|GO:0099053;activating signal cointegrator 1 complex;IDA	GO:0002020;protease binding;IPI|GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016922;ligand-dependent nuclear receptor binding;IDA|GO:0030331;estrogen receptor binding;IPI|GO:0035035;histone acetyltransferase binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIP4	https://www.uniprot.org/uniprot/Q15650	https://hpo.jax.org/app/browse/search?q=TRIP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604501	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP4&submit=Quick%0D%3051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP4	rs112815338	0.336661	0	0	1	0	0	upstream	upstream	upstream	TRIP4	TRIP4	ENSG00000103671	Na	Na	Na	Na	Na	Na	Het;A>T	121;5|6	Hom;A>T	264;0|9
N	N	-	15	65113493	65113493	G	A	snp	intronic	 	 	 	 	PIF1	Pif1	ENSG00000140451	PIF1 5'-to-3' DNA helicase	chr15:65107831-65117867	This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]		Mice homozygous for a knock-out allele are viable and overtly normal and show no evidence of increased sensitivity to DNA damage, genetic instability, reproducible telomere length alteration or other cellular abnormalities.		GO:0000002;mitochondrial genome maintenance;IBA|GO:0000723;telomere maintenance;IEA|GO:0006260;DNA replication;IBA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032204;regulation of telomere maintenance;IDA|GO:0032211;negative regulation of telomere maintenance via telomerase;IDA|GO:0032508;DNA duplex unwinding;IEA|GO:0044806;G-quadruplex DNA unwinding;IBA|GO:0051974;negative regulation of telomerase activity;IDA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005657;replication fork;IBA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0003677;DNA binding;IEA|GO:0003678;DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IDA|GO:0010521;telomerase inhibitor activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0033682;ATP-dependent 5'-3' DNA/RNA helicase activity;IDA|GO:0042162;telomeric DNA binding;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PIF1	https://www.uniprot.org/uniprot/Q9H611		https://www.ncbi.nlm.nih.gov/omim/?term=610953	http://www.informatics.jax.org/searchtool/Search.do?query=PIF1&submit=Quick%0D%8024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIF1	rs1872592	0.604034	0.5180	0.6170	1	0	0	intronic	intronic	intronic	PIF1	PIF1	ENSG00000140451	Na	Na	Na	Na	Na	Na	Het;G>A	1880;125|94	Hom;G>A	4675;0|169
N	N	-	15	65208227	65208227	G	A	snp	intronic	 	 	 	 	ANKDD1A	Ankdd1a	ENSG00000166839	ankyrin repeat and death domain containing 1A	chr15:65204101-65251042			 		GO:0007165;signal transduction;IEA			http://www.genecards.org/index.php?path=/Search/keyword/ANKDD1A				http://www.informatics.jax.org/searchtool/Search.do?query=ANKDD1A&submit=Quick%0D%11879ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKDD1A	rs1471834	0.78115	0	0	1	0	0	intronic	intronic	intronic	ANKDD1A	ANKDD1A	ENSG00000166839,ENSG00000249240	Na	Na	Na	Na	Na	Na	Het;G>A	157;3|7	Hom;G>A	594;0|19
N	N	-	15	65209880	65209880	A	C	snp	intronic	 	 	 	 	ANKDD1A	Ankdd1a	ENSG00000166839	ankyrin repeat and death domain containing 1A	chr15:65204101-65251042			 		GO:0007165;signal transduction;IEA			http://www.genecards.org/index.php?path=/Search/keyword/ANKDD1A				http://www.informatics.jax.org/searchtool/Search.do?query=ANKDD1A&submit=Quick%0D%11879ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKDD1A	rs2056497	0.86222	0	0	1	0	0	intronic	intronic	intronic	ANKDD1A	ANKDD1A	ENSG00000166839,ENSG00000249240	Na	Na	Na	Na	Na	Na	Het;A>C	72;2|3	Hom;A>C	171;0|5
N	N	-	15	65350743	65350743	C	G	snp	intronic	 	 	 	 	RASL12	Rasl12	ENSG00000103710	RAS like family 12	chr15:65345679-65369028			 		GO:0007165;signal transduction;IEA	GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASL12	https://www.uniprot.org/uniprot/Q9NYN1			http://www.informatics.jax.org/searchtool/Search.do?query=RASL12&submit=Quick%0D%3053ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASL12	rs2232759	0.357827	0.3989	0.4212	1	0	0	intronic	intronic	intronic	RASL12	RASL12	ENSG00000103710	Na	Na	Na	Na	Na	Na	Het;C>G	465;11|18	Hom;C>G	1203;0|42
N	N	-	15	65350968	65350968	T	A	snp	intronic	 	 	 	 	RASL12	Rasl12	ENSG00000103710	RAS like family 12	chr15:65345679-65369028			 		GO:0007165;signal transduction;IEA	GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASL12	https://www.uniprot.org/uniprot/Q9NYN1			http://www.informatics.jax.org/searchtool/Search.do?query=RASL12&submit=Quick%0D%3053ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASL12	rs2232758	0.357428	0.3977	0.4302	1	0	0	intronic	intronic	intronic	RASL12	RASL12	ENSG00000103710	Na	Na	Na	Na	Na	Na	Het;T>A	859;36|39	Hom;T>A	1589;2|58
N	N	-	15	65357434	65357434	C	T	snp	intronic	 	 	 	 	RASL12	Rasl12	ENSG00000103710	RAS like family 12	chr15:65345679-65369028			 		GO:0007165;signal transduction;IEA	GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASL12	https://www.uniprot.org/uniprot/Q9NYN1			http://www.informatics.jax.org/searchtool/Search.do?query=RASL12&submit=Quick%0D%3053ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASL12	rs2232754	0.344848	0	0	1	0	0	intronic	intronic	intronic	RASL12	RASL12	ENSG00000103710	Na	Na	Na	Na	Na	Na	Het;C>T	65;1|3	Hom;C>T	263;0|9
N	N	-	15	65370652	65370652	T	C	snp	UTR3	*122T>C	 	 	 	KBTBD13	Kbtbd13	ENSG00000234438	kelch repeat and BTB domain containing 13	chr15:65369154-65372276	The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]	Nemaline myopathy 6	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KBTBD13		https://hpo.jax.org/app/browse/search?q=KBTBD13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613727	http://www.informatics.jax.org/searchtool/Search.do?query=KBTBD13&submit=Quick%0D%19252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KBTBD13	rs12901617	0.390775	0	0	1	0	0	UTR3	UTR3	UTR3	KBTBD13(NM_001101362:c.*122T>C)	KBTBD13(uc010uis.2:c.*122T>C)	ENSG00000234438(ENST00000432196:c.*122T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	260;17|14	Hom;T>C	837;1|30
N	N	-	15	65371050	65371050	A	G	snp	UTR3	*520A>G	 	 	 	KBTBD13	Kbtbd13	ENSG00000234438	kelch repeat and BTB domain containing 13	chr15:65369154-65372276	The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]	Nemaline myopathy 6	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KBTBD13		https://hpo.jax.org/app/browse/search?q=KBTBD13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613727	http://www.informatics.jax.org/searchtool/Search.do?query=KBTBD13&submit=Quick%0D%19252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KBTBD13	rs12904843	0.343251	0	0	1	0	0	UTR3	UTR3	UTR3	KBTBD13(NM_001101362:c.*520A>G)	KBTBD13(uc010uis.2:c.*520A>G)	ENSG00000234438(ENST00000432196:c.*520A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	128;19|9	Hom;A>G	755;0|29
N	N	-	15	65371427	65371427	A	G	snp	UTR3	*897A>G	 	 	 	KBTBD13	Kbtbd13	ENSG00000234438	kelch repeat and BTB domain containing 13	chr15:65369154-65372276	The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]	Nemaline myopathy 6	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KBTBD13		https://hpo.jax.org/app/browse/search?q=KBTBD13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613727	http://www.informatics.jax.org/searchtool/Search.do?query=KBTBD13&submit=Quick%0D%19252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KBTBD13	rs12905499	0.383187	0	0	1	0	0	UTR3	UTR3	UTR3	KBTBD13(NM_001101362:c.*897A>G)	KBTBD13(uc010uis.2:c.*897A>G)	ENSG00000234438(ENST00000432196:c.*897A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1101;41|48	Hom;A>G	1968;0|68
N	N	-	15	65681801	65681801	G	A	snp	intronic	 	 	 	 	IGDCC4	Igdcc4	ENSG00000103742	immunoglobulin superfamily DCC subclass member 4	chr15:65673802-65715410			 			GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGDCC4	https://www.uniprot.org/uniprot/Q8TDY8		https://www.ncbi.nlm.nih.gov/omim/?term=616810	http://www.informatics.jax.org/searchtool/Search.do?query=IGDCC4&submit=Quick%0D%3056ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGDCC4	rs11071841	0.192093	0.1422	0.1708	1	0	0	intronic	intronic	intronic	IGDCC4	IGDCC4	ENSG00000103742	Na	Na	Na	Na	Na	Na	Het;G>A	681;27|30	Hom;G>A	1413;0|52
N	N	-	15	65685968	65685968	G	A	snp	intronic	 	 	 	 	IGDCC4	Igdcc4	ENSG00000103742	immunoglobulin superfamily DCC subclass member 4	chr15:65673802-65715410			 			GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGDCC4	https://www.uniprot.org/uniprot/Q8TDY8		https://www.ncbi.nlm.nih.gov/omim/?term=616810	http://www.informatics.jax.org/searchtool/Search.do?query=IGDCC4&submit=Quick%0D%3056ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGDCC4	rs11638647	0.256589	0	0	1	0	0	intronic	intronic	intronic	IGDCC4	IGDCC4	ENSG00000103742	Na	Na	Na	Na	Na	Na	Het;G>A	130;6|5	Hom;G>A	319;0|11
N	N	-	15	65735707	65735707	T	G	snp	UTR3	*3515A>C	 	 	 	DPP8	Dpp8	ENSG00000074603	dipeptidyl peptidase 8	chr15:65734801-65810042	This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]		 		GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS|GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;NAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DPP8	https://www.uniprot.org/uniprot/Q6V1X1		https://www.ncbi.nlm.nih.gov/omim/?term=606819	http://www.informatics.jax.org/searchtool/Search.do?query=DPP8&submit=Quick%0D%76ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP8	rs590958	0.670327	0	0	1	0	0	intergenic	intergenic	UTR3	IGDCC4(dist=20297),DPP8(dist=2291)	IGDCC4(dist=20297),DPP8(dist=2291)	ENSG00000074603(ENST00000341861:c.*3515A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	1400;68|60	Hom;T>G	3139;0|102
N	N	-	15	65748446	65748446	A	ACT	indel	intronic	 	 	 	 	DPP8	Dpp8	ENSG00000074603	dipeptidyl peptidase 8	chr15:65734801-65810042	This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]		 		GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS|GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;NAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DPP8	https://www.uniprot.org/uniprot/Q6V1X1		https://www.ncbi.nlm.nih.gov/omim/?term=606819	http://www.informatics.jax.org/searchtool/Search.do?query=DPP8&submit=Quick%0D%76ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP8	rs397773214	0.653754	0	0	1	0	0	intronic	intronic	intronic	DPP8	DPP8	ENSG00000074603	Na	Na	Na	Na	Na	Na	Het;+CT	102;6|4	Hom;+CT	133;0|4
N	N	-	15	65758868	65758868	A	T	snp	intronic	 	 	 	 	DPP8	Dpp8	ENSG00000074603	dipeptidyl peptidase 8	chr15:65734801-65810042	This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]		 		GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS|GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;NAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DPP8	https://www.uniprot.org/uniprot/Q6V1X1		https://www.ncbi.nlm.nih.gov/omim/?term=606819	http://www.informatics.jax.org/searchtool/Search.do?query=DPP8&submit=Quick%0D%76ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP8	rs7496335	0.651358	0	0	1	0	0	intronic	intronic	intronic	DPP8	DPP8	ENSG00000074603	Na	Na	Na	Na	Na	Na	Het;A>T	144;8|5	Hom;A>T	462;0|10
N	N	-	15	65758874	65758874	C	G	snp	intronic	 	 	 	 	DPP8	Dpp8	ENSG00000074603	dipeptidyl peptidase 8	chr15:65734801-65810042	This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]		 		GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS|GO:0006508;proteolysis;IEA|GO:0006955;immune response;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;NAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DPP8	https://www.uniprot.org/uniprot/Q6V1X1		https://www.ncbi.nlm.nih.gov/omim/?term=606819	http://www.informatics.jax.org/searchtool/Search.do?query=DPP8&submit=Quick%0D%76ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP8	rs7496362	0.50599	0	0	1	0	0	intronic	intronic	intronic	DPP8	DPP8	ENSG00000074603	Na	Na	Na	Na	Na	Na	Het;C>G	116;8|4	Hom;C>G	462;0|11
N	N	-	15	65903398	65903398	G	A	snp	unknown	 	 	 	 	INTS14																		rs4366668	0.661342	0	0.5259	1	0	0	intronic	UTR5	exonic	VWA9	VWA9(uc002apd.4:c.-3680C>T,uc010uix.3:c.-312C>T)	ENSG00000138614	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	2457;210|137	Hom;G>A	8982;0|338
N	N	-	15	65935195	65935195	C	G	snp	intronic	 	 	 	 	SLC24A1	Slc24a1	ENSG00000074621	solute carrier family 24 member 1	chr15:65903704-65953333	This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Night blindness congenital stationary type 1D	Mice homozygous for a null allele display slow progressive retinal degeneration and develop stationary night blindness.	Sodium/Calcium exchangers	GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0007601;visual perception;IEA|GO:0009642;response to light intensity;NAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;IEA|GO:0060291;long-term synaptic potentiation;IBA|GO:0060292;long term synaptic depression;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019867;outer membrane;NAS	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0008273;calcium, potassium:sodium antiporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0030955;potassium ion binding;IBA|GO:0031402;sodium ion binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC24A1	https://www.uniprot.org/uniprot/O60721	https://hpo.jax.org/app/browse/search?q=SLC24A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603617	http://www.informatics.jax.org/searchtool/Search.do?query=SLC24A1&submit=Quick%0D%1507ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC24A1	rs12101597	0.651558	0	0	1	0	0	intronic	intronic	intronic	SLC24A1	SLC24A1	ENSG00000074621	Na	Na	Na	Na	Na	Na	Het;C>G	85;3|5	Hom;C>G	349;0|11
N	N	-	15	66023799	66023799	G	T	snp	intronic	 	 	 	 	DENND4A	Dennd4a	ENSG00000174485	DENN domain containing 4A	chr15:65950384-66084631	This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]	Brain; Blood Pressure; Erythrocyte Indices	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND4A			https://www.ncbi.nlm.nih.gov/omim/?term=600382	http://www.informatics.jax.org/searchtool/Search.do?query=DENND4A&submit=Quick%0D%13532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND4A	rs28556680	0.652756	0	0.5325	1	0	0	intronic	intronic	intronic	DENND4A	DENND4A	ENSG00000174485	Na	Na	Na	Na	Na	Na	Het;G>T	156;2|6	Hom;G>T	301;0|10
N	N	-	15	66025010	66025010	G	A	snp	intronic	 	 	 	 	DENND4A	Dennd4a	ENSG00000174485	DENN domain containing 4A	chr15:65950384-66084631	This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]	Brain; Blood Pressure; Erythrocyte Indices	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND4A			https://www.ncbi.nlm.nih.gov/omim/?term=600382	http://www.informatics.jax.org/searchtool/Search.do?query=DENND4A&submit=Quick%0D%13532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND4A	rs11071849	0.671725	0	0	1	0	0	intronic	intronic	intronic	DENND4A	DENND4A	ENSG00000174485	Na	Na	Na	Na	Na	Na	Het;G>A	52;11|4	Hom;G>A	429;0|15
N	N	-	15	66063428	66063428	C	T	snp	intronic	 	 	 	 	DENND4A	Dennd4a	ENSG00000174485	DENN domain containing 4A	chr15:65950384-66084631	This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]	Brain; Blood Pressure; Erythrocyte Indices	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND4A			https://www.ncbi.nlm.nih.gov/omim/?term=600382	http://www.informatics.jax.org/searchtool/Search.do?query=DENND4A&submit=Quick%0D%13532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND4A	rs2727099	0.652356	0	0	1	0	0	intronic	intronic	intronic	DENND4A	DENND4A	ENSG00000174485	Na	Na	Na	Na	Na	Na	Het;C>T	146;12|7	Hom;C>T	361;0|12
N	N	-	15	66612760	66612760	C	CA	indel	ncRNA_intronic	 	 	 	 	AC055855.2																		rs112874647	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DIS3L	DIS3L	ENSG00000260773	Na	Na	Na	Na	Na	Na	Het;+A	67;4|5	Hom;+A	71;0|4
N	N	-	15	66960632	66960651	CTTTTTTTTTTTTTTTTTTT	C	indel	ncRNA_intronic	 	 	 	 	LINC01169																		rs553191161	0	0	0	1	0	0	ncRNA_intronic	intronic	intronic	LINC01169	hCG_2003567	ENSG00000259471	Na	Na	Na	Na	Na	Na	Het;-TTTTTTTTTTTTTTTTTTT	822;5|29	Hom;-TTTTTTTTTTTTTTTTTTT	823;1|29
N	N	-	15	66994830	66994830	C	T	snp	UTR5	-767C>T	 	 	 	SMAD6	Smad6	ENSG00000137834	SMAD family member 6	chr15:66994566-67074338	The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]	Type 2 diabetes; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; bacteremia; Hypertension, Pulmonary; null	Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality.  Survivors develop aortic ossification and hypertension as adults.	Signaling by BMP	GO:0001657;ureteric bud development;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003170;heart valve development;IEA|GO:0003183;mitral valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006955;immune response;IMP|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007352;zygotic specification of dorsal/ventral axis;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010991;negative regulation of SMAD protein complex assembly;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030509;BMP signaling pathway;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0030514;negative regulation of BMP signaling pathway;IDA|GO:0031589;cell-substrate adhesion;IMP|GO:0034616;response to laminar fluid shear stress;IEP|GO:0035904;aorta development;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043627;response to estrogen;IEA|GO:0045444;fat cell differentiation;IDA|GO:0060394;negative regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0060976;coronary vasculature development;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0043234;protein complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0030617;transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IDA|GO:0042802;identical protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070410;co-SMAD binding;IPI|GO:0070411;I-SMAD binding;IPI|GO:0070412;R-SMAD binding;IPI|GO:0070698;type I activin receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMAD6	https://www.uniprot.org/uniprot/O43541	https://hpo.jax.org/app/browse/search?q=SMAD6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602931	http://www.informatics.jax.org/searchtool/Search.do?query=SMAD6&submit=Quick%0D%7617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMAD6	rs62005619	0.179513	0	0	1	0	0	UTR5	UTR5	UTR5	SMAD6(NM_005585:c.-767C>T)	SMAD6(uc002aqf.3:c.-767C>T)	ENSG00000137834(ENST00000288840:c.-767C>T,ENST00000457357:c.-767C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	929;52|47	Hom;C>T	2393;2|92
N	N	-	15	66995323	66995323	G	A	snp	UTR5	-274G>A	 	 	 	SMAD6	Smad6	ENSG00000137834	SMAD family member 6	chr15:66994566-67074338	The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]	Type 2 diabetes; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; bacteremia; Hypertension, Pulmonary; null	Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality.  Survivors develop aortic ossification and hypertension as adults.	Signaling by BMP	GO:0001657;ureteric bud development;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003170;heart valve development;IEA|GO:0003183;mitral valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006955;immune response;IMP|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007352;zygotic specification of dorsal/ventral axis;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010991;negative regulation of SMAD protein complex assembly;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030509;BMP signaling pathway;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0030514;negative regulation of BMP signaling pathway;IDA|GO:0031589;cell-substrate adhesion;IMP|GO:0034616;response to laminar fluid shear stress;IEP|GO:0035904;aorta development;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043627;response to estrogen;IEA|GO:0045444;fat cell differentiation;IDA|GO:0060394;negative regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0060976;coronary vasculature development;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0043234;protein complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0030617;transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IDA|GO:0042802;identical protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070410;co-SMAD binding;IPI|GO:0070411;I-SMAD binding;IPI|GO:0070412;R-SMAD binding;IPI|GO:0070698;type I activin receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMAD6	https://www.uniprot.org/uniprot/O43541	https://hpo.jax.org/app/browse/search?q=SMAD6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602931	http://www.informatics.jax.org/searchtool/Search.do?query=SMAD6&submit=Quick%0D%7617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMAD6	rs4776822	0.209465	0	0	1	0	0	UTR5	UTR5	UTR5	SMAD6(NM_005585:c.-274G>A)	SMAD6(uc002aqf.3:c.-274G>A)	ENSG00000137834(ENST00000288840:c.-274G>A,ENST00000457357:c.-274G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	395;22|17	Hom;G>A	816;0|28
N	N	-	15	67008737	67008737	C	A	snp	intronic	 	 	 	 	SMAD6	Smad6	ENSG00000137834	SMAD family member 6	chr15:66994566-67074338	The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]	Type 2 diabetes; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; bacteremia; Hypertension, Pulmonary; null	Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality.  Survivors develop aortic ossification and hypertension as adults.	Signaling by BMP	GO:0001657;ureteric bud development;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003170;heart valve development;IEA|GO:0003183;mitral valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006955;immune response;IMP|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007352;zygotic specification of dorsal/ventral axis;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010991;negative regulation of SMAD protein complex assembly;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030509;BMP signaling pathway;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0030514;negative regulation of BMP signaling pathway;IDA|GO:0031589;cell-substrate adhesion;IMP|GO:0034616;response to laminar fluid shear stress;IEP|GO:0035904;aorta development;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043627;response to estrogen;IEA|GO:0045444;fat cell differentiation;IDA|GO:0060394;negative regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0060976;coronary vasculature development;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0043234;protein complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0030617;transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IDA|GO:0042802;identical protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070410;co-SMAD binding;IPI|GO:0070411;I-SMAD binding;IPI|GO:0070412;R-SMAD binding;IPI|GO:0070698;type I activin receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMAD6	https://www.uniprot.org/uniprot/O43541	https://hpo.jax.org/app/browse/search?q=SMAD6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602931	http://www.informatics.jax.org/searchtool/Search.do?query=SMAD6&submit=Quick%0D%7617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMAD6	rs2278604	0.17512	0.2515	0.2321	1	0	0	intronic	intronic	intronic	SMAD6	SMAD6	ENSG00000137834	Na	Na	Na	Na	Na	Na	Het;C>A	436;33|25	Hom;C>A	2362;1|89
N	N	-	15	67268487	67268487	G	C	snp	intergenic	 	 	 	 	ENSG00000256122																		rs266316	0.643371	0	0	1	0	0	intergenic	intergenic	intergenic	SMAD6(dist=194150),SMAD3(dist=89708)	BX538221(dist=109126),Mir_1302(dist=11562)	ENSG00000256122(dist=5030),ENSG00000259347(dist=10212)	Na	Na	Na	Na	Na	Na	Het;G>C	56;1|4	Hom;G>C	162;0|7
N	N	-	15	67268538	67268538	C	T	snp	intergenic	 	 	 	 	ENSG00000256122																		rs266315	0.643171	0	0	1	0	0	intergenic	intergenic	intergenic	SMAD6(dist=194201),SMAD3(dist=89657)	BX538221(dist=109177),Mir_1302(dist=11511)	ENSG00000256122(dist=5081),ENSG00000259347(dist=10161)	Na	Na	Na	Na	Na	Na	Het;C>T	44;1|3	Hom;C>T	140;0|6
N	N	-	15	68618961	68618961	T	C	snp	intronic	 	 	 	 	ITGA11	Itga11	ENSG00000137809	integrin subunit alpha 11	chr15:68594050-68724501	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; lung cancer ; Coronary Disease; Psychomotor Performance; Cell Adhesion Molecules; ADHD | attention-deficit hyperactivity disorder; Survival; Electrocardiography	Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.	Integrin cell surface interactions	GO:0001649;osteoblast differentiation;IDA|GO:0006929;substrate-dependent cell migration;IMP|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IMP|GO:0038065;collagen-activated signaling pathway;IMP	GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034681;integrin alpha11-beta1 complex;IDA	GO:0005518;collagen binding;IMP|GO:0038064;collagen receptor activity;IMP|GO:0046872;metal ion binding;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ITGA11	https://www.uniprot.org/uniprot/Q9UKX5		https://www.ncbi.nlm.nih.gov/omim/?term=604789	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA11&submit=Quick%0D%7605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA11	rs2271722	0.65655	0.6362	0.7774	1	0	0	intronic	intronic	intronic	ITGA11	ITGA11	ENSG00000137809	Na	Na	Na	Na	Na	Na	Het;T>C	1247;34|52	Hom;T>C	2866;0|104
N	N	-	15	68624175	68624175	C	T	snp	intronic	 	 	 	 	ITGA11	Itga11	ENSG00000137809	integrin subunit alpha 11	chr15:68594050-68724501	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; lung cancer ; Coronary Disease; Psychomotor Performance; Cell Adhesion Molecules; ADHD | attention-deficit hyperactivity disorder; Survival; Electrocardiography	Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.	Integrin cell surface interactions	GO:0001649;osteoblast differentiation;IDA|GO:0006929;substrate-dependent cell migration;IMP|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IMP|GO:0038065;collagen-activated signaling pathway;IMP	GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034681;integrin alpha11-beta1 complex;IDA	GO:0005518;collagen binding;IMP|GO:0038064;collagen receptor activity;IMP|GO:0046872;metal ion binding;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ITGA11	https://www.uniprot.org/uniprot/Q9UKX5		https://www.ncbi.nlm.nih.gov/omim/?term=604789	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA11&submit=Quick%0D%7605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA11	rs7167822	0.632788	0.6106	0.7574	1	0	0	intronic	intronic	intronic	ITGA11	ITGA11	ENSG00000137809	Na	Na	Na	Na	Na	Na	Het;C>T	755;32|31	Hom;C>T	1897;0|67
N	N	-	15	68628143	68628143	C	T	snp	synonymous SNV	G1317A	R439R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ITGA11	Itga11	ENSG00000137809	integrin subunit alpha 11	chr15:68594050-68724501	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; lung cancer ; Coronary Disease; Psychomotor Performance; Cell Adhesion Molecules; ADHD | attention-deficit hyperactivity disorder; Survival; Electrocardiography	Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.	Integrin cell surface interactions	GO:0001649;osteoblast differentiation;IDA|GO:0006929;substrate-dependent cell migration;IMP|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IMP|GO:0038065;collagen-activated signaling pathway;IMP	GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034681;integrin alpha11-beta1 complex;IDA	GO:0005518;collagen binding;IMP|GO:0038064;collagen receptor activity;IMP|GO:0046872;metal ion binding;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ITGA11	https://www.uniprot.org/uniprot/Q9UKX5		https://www.ncbi.nlm.nih.gov/omim/?term=604789	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA11&submit=Quick%0D%7605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA11	rs2306023	0.645966	0.6413	0.7642	1	0	0	exonic	exonic	exonic	ITGA11	ITGA11	ENSG00000137809	synonymous SNV	synonymous SNV	unknown	ITGA11:NM_001004439:exon12:c.G1317A:p.R439R,	ITGA11:uc002ari.3:exon12:c.G1317A:p.R439R,ITGA11:uc010bib.3:exon12:c.G1317A:p.R439R,	UNKNOWN	Het;C>T	1634;77|80	Hom;C>T	3902;0|147
N	N	-	15	68631740	68631740	A	G	snp	intronic	 	 	 	 	ITGA11	Itga11	ENSG00000137809	integrin subunit alpha 11	chr15:68594050-68724501	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; lung cancer ; Coronary Disease; Psychomotor Performance; Cell Adhesion Molecules; ADHD | attention-deficit hyperactivity disorder; Survival; Electrocardiography	Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.	Integrin cell surface interactions	GO:0001649;osteoblast differentiation;IDA|GO:0006929;substrate-dependent cell migration;IMP|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IMP|GO:0038065;collagen-activated signaling pathway;IMP	GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034681;integrin alpha11-beta1 complex;IDA	GO:0005518;collagen binding;IMP|GO:0038064;collagen receptor activity;IMP|GO:0046872;metal ion binding;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ITGA11	https://www.uniprot.org/uniprot/Q9UKX5		https://www.ncbi.nlm.nih.gov/omim/?term=604789	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA11&submit=Quick%0D%7605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA11	rs2125998	0.86901	0	0	1	0	0	intronic	intronic	intronic	ITGA11	ITGA11	ENSG00000137809	Na	Na	Na	Na	Na	Na	Het;A>G	747;36|33	Hom;A>G	1342;0|45
N	N	-	15	68695448	68695448	T	C	snp	intronic	 	 	 	 	ITGA11	Itga11	ENSG00000137809	integrin subunit alpha 11	chr15:68594050-68724501	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; lung cancer ; Coronary Disease; Psychomotor Performance; Cell Adhesion Molecules; ADHD | attention-deficit hyperactivity disorder; Survival; Electrocardiography	Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.	Integrin cell surface interactions	GO:0001649;osteoblast differentiation;IDA|GO:0006929;substrate-dependent cell migration;IMP|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IMP|GO:0038065;collagen-activated signaling pathway;IMP	GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034681;integrin alpha11-beta1 complex;IDA	GO:0005518;collagen binding;IMP|GO:0038064;collagen receptor activity;IMP|GO:0046872;metal ion binding;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ITGA11	https://www.uniprot.org/uniprot/Q9UKX5		https://www.ncbi.nlm.nih.gov/omim/?term=604789	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA11&submit=Quick%0D%7605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA11	rs4777049	0.45607	0	0	1	0	0	intronic	intronic	intronic	ITGA11	ITGA11	ENSG00000137809	Na	Na	Na	Na	Na	Na	Het;T>C	874;27|35	Hom;T>C	1132;0|40
N	N	-	15	69903404	69903404	G	C	snp	ncRNA_exonic	 	 	 	 	PCAT29																		rs36035890	0.204073	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PCAT29	AK097902	ENSG00000259641	Na	Na	Na	Na	Na	Na	Het;G>C	1076;76|55	Hom;G>C	4072;3|155
N	N	-	15	70344616	70344616	A	G	snp	intronic	 	 	 	 	TLE3	Tle3	ENSG00000140332	transducin like enhancer of split 3	chr15:70340129-70390515	This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]	Bipolar Disorder; Hip	Mice homzoygous for a gene trap allele exhibit embryonic lethality.	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE3	https://www.uniprot.org/uniprot/Q04726		https://www.ncbi.nlm.nih.gov/omim/?term=600190	http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3	rs3743310	0.366414	0	0	1	0	0	intronic	intronic	intronic	TLE3	TLE3	ENSG00000140332	Na	Na	Na	Na	Na	Na	Het;A>G	283;13|11	Hom;A>G	568;2|18
N	N	-	15	70345626	70345626	C	T	snp	synonymous SNV	G1899A	T633T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TLE3	Tle3	ENSG00000140332	transducin like enhancer of split 3	chr15:70340129-70390515	This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]	Bipolar Disorder; Hip	Mice homzoygous for a gene trap allele exhibit embryonic lethality.	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE3	https://www.uniprot.org/uniprot/Q04726		https://www.ncbi.nlm.nih.gov/omim/?term=600190	http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3	rs1057865	0.363019	0.4045	0.4400	1	0	0	exonic	exonic	exonic	TLE3	TLE3	ENSG00000140332	synonymous SNV	synonymous SNV	unknown	TLE3:NM_001282981:exon17:c.G1893A:p.T631T,TLE3:NM_001282980:exon17:c.G1908A:p.T636T,TLE3:NM_020908:exon17:c.G1887A:p.T629T,TLE3:NM_005078:exon17:c.G1923A:p.T641T,TLE3:NM_001282979:exon17:c.G1899A:p.T633T,TLE3:NM_001282982:exon15:c.G1704A:p.T568T,TLE3:NM_001105192:exon17:c.G1914A:p.T638T,	TLE3:uc002asp.2:exon17:c.G1899A:p.T633T,TLE3:uc010bil.1:exon17:c.G1914A:p.T638T,TLE3:uc002aso.2:exon17:c.G1908A:p.T636T,TLE3:uc010ukd.1:exon17:c.G1893A:p.T631T,TLE3:uc002asl.2:exon16:c.G1923A:p.T641T,TLE3:uc002asm.2:exon17:c.G1923A:p.T641T,TLE3:uc002ask.2:exon15:c.G1704A:p.T568T,TLE3:uc002asn.2:exon17:c.G1887A:p.T629T,	UNKNOWN	Het;C>T	1994;78|91	Hom;C>T	3604;2|141
N	N	-	15	70346923	70346923	C	T	snp	synonymous SNV	G1665A	S555S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TLE3	Tle3	ENSG00000140332	transducin like enhancer of split 3	chr15:70340129-70390515	This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]	Bipolar Disorder; Hip	Mice homzoygous for a gene trap allele exhibit embryonic lethality.	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE3	https://www.uniprot.org/uniprot/Q04726		https://www.ncbi.nlm.nih.gov/omim/?term=600190	http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3	rs2228178	0.36262	0.4038	0.4285	1	0	0	exonic	exonic	exonic	TLE3	TLE3	ENSG00000140332	synonymous SNV	synonymous SNV	unknown	TLE3:NM_001282981:exon16:c.G1659A:p.S553S,TLE3:NM_001282980:exon16:c.G1674A:p.S558S,TLE3:NM_020908:exon16:c.G1653A:p.S551S,TLE3:NM_005078:exon16:c.G1689A:p.S563S,TLE3:NM_001282979:exon16:c.G1665A:p.S555S,TLE3:NM_001282982:exon14:c.G1470A:p.S490S,TLE3:NM_001105192:exon16:c.G1680A:p.S560S,	TLE3:uc002asp.2:exon16:c.G1665A:p.S555S,TLE3:uc010bil.1:exon16:c.G1680A:p.S560S,TLE3:uc002aso.2:exon16:c.G1674A:p.S558S,TLE3:uc010ukd.1:exon16:c.G1659A:p.S553S,TLE3:uc002asl.2:exon15:c.G1689A:p.S563S,TLE3:uc002asm.2:exon16:c.G1689A:p.S563S,TLE3:uc002ask.2:exon14:c.G1470A:p.S490S,TLE3:uc002asn.2:exon16:c.G1653A:p.S551S,	UNKNOWN	Het;C>T	1607;47|69	Hom;C>T	3705;0|141
N	N	-	15	70347362	70347362	C	A	snp	intronic	 	 	 	 	TLE3	Tle3	ENSG00000140332	transducin like enhancer of split 3	chr15:70340129-70390515	This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]	Bipolar Disorder; Hip	Mice homzoygous for a gene trap allele exhibit embryonic lethality.	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE3	https://www.uniprot.org/uniprot/Q04726		https://www.ncbi.nlm.nih.gov/omim/?term=600190	http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3	rs4777227	0.717851	0.6854	0.7650	1	0	0	intronic	intronic	intronic	TLE3	TLE3	ENSG00000140332	Na	Na	Na	Na	Na	Na	Het;C>A	566;24|27	Hom;C>A	1227;0|43
N	N	-	15	70349744	70349744	T	C	snp	intronic	 	 	 	 	TLE3	Tle3	ENSG00000140332	transducin like enhancer of split 3	chr15:70340129-70390515	This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]	Bipolar Disorder; Hip	Mice homzoygous for a gene trap allele exhibit embryonic lethality.	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE3	https://www.uniprot.org/uniprot/Q04726		https://www.ncbi.nlm.nih.gov/omim/?term=600190	http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3	rs8036209	0.382188	0	0	1	0	0	intronic	intronic	intronic	TLE3	TLE3	ENSG00000140332	Na	Na	Na	Na	Na	Na	Het;T>C	147;3|6	Hom;T>C	704;0|21
N	N	-	15	70351649	70351649	C	A	snp	intronic	 	 	 	 	TLE3	Tle3	ENSG00000140332	transducin like enhancer of split 3	chr15:70340129-70390515	This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]	Bipolar Disorder; Hip	Mice homzoygous for a gene trap allele exhibit embryonic lethality.	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE3	https://www.uniprot.org/uniprot/Q04726		https://www.ncbi.nlm.nih.gov/omim/?term=600190	http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3	rs7176098	0.341653	0	0	1	0	0	intronic	intronic	intronic	TLE3	TLE3	ENSG00000140332	Na	Na	Na	Na	Na	Na	Het;C>A	61;4|3	Hom;C>A	153;0|5
N	N	-	15	70589294	70589296	TGA	T	indel	intergenic	 	 	 	 	AC026583.1																		rs376997283	0.219249	0	0	1	0	0	intergenic	intergenic	intergenic	TLE3(dist=199038),SALRNA3(dist=318590)	Mir_584(dist=81601),UACA(dist=357597)	ENSG00000259252(dist=98446),ENSG00000259503(dist=24619)	Na	Na	Na	Na	Na	Na	Het;-GA	151;17|7	Hom;-GA	865;0|25
N	N	-	15	71276480	71276483	GCAA	G	indel	nonframeshift substitution	969_972G	 	 	 	LRRC49	Lrrc49	ENSG00000137821	leucine rich repeat containing 49	chr15:71145578-71342414		Respiratory Function Tests	 	Carboxyterminal post-translational modifications of tubulin		GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LRRC49	https://www.uniprot.org/uniprot/Q8IUZ0			http://www.informatics.jax.org/searchtool/Search.do?query=LRRC49&submit=Quick%0D%7612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC49	rs3834543	0.435903	0.4085	0.4686	1	0	0	exonic	exonic	exonic	LRRC49	LRRC49	ENSG00000137821	nonframeshift substitution	nonframeshift substitution	unknown	LRRC49:NM_001199018:exon12:c.921_924G,LRRC49:NM_001284357:exon12:c.1023_1026G,LRRC49:NM_017691:exon11:c.1053_1056G,LRRC49:NM_001199017:exon11:c.1068_1071G,	LRRC49:uc002asz.3:exon12:c.969_972G,LRRC49:uc002asu.3:exon12:c.1023_1026G,LRRC49:uc002asw.3:exon11:c.1053_1056G,LRRC49:uc002asy.3:exon13:c.171_174G,LRRC49:uc010ukf.2:exon11:c.1068_1071G,LRRC49:uc002asx.3:exon12:c.921_924G,	UNKNOWN	Het;-CAA	2197;67|58	Hom;-CAA	3918;2|90
N	N	-	15	71481210	71481210	T	C	snp	ncRNA_exonic	 	 	 	 	THSD4-AS1																		rs28542194	0.170327	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	THSD4-AS1	BC043587	ENSG00000259964	Na	Na	Na	Na	Na	Na	Het;T>C	1139;77|61	Hom;T>C	3382;4|122
N	N	-	15	71983774	71983774	C	T	snp	ncRNA_exonic	 	 	 	 	THSD4-AS2																		rs1566573	0.499002	0	0	1	0	0	ncRNA_exonic	intronic	intronic	THSD4-AS2	THSD4	ENSG00000187720	Na	Na	Na	Na	Na	Na	Het;C>T	1689;67|81	Hom;C>T	3155;2|125
N	N	-	15	72191073	72191073	T	C	snp	synonymous SNV	A3714G	R1238R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MYO9A	Myo9a	ENSG00000066933	myosin IXA	chr15:72114632-72410918	This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]	coronary spastic angina	Homozygous KO leads to obstructive hydrocephaly caused by blockage of the third ventricle and the rostral aqueduct caused by developmental failures of their ependymal cells.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;NAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO9A	https://www.uniprot.org/uniprot/B2RTY4	https://hpo.jax.org/app/browse/search?q=MYO9A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604875	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9A&submit=Quick%0D%1237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9A	rs2415128	0.592851	0.6799	0.6901	1	0	0	exonic	exonic	exonic	MYO9A	MYO9A	ENSG00000066933	synonymous SNV	synonymous SNV	unknown	MYO9A:NM_006901:exon25:c.A3771G:p.R1257R,	MYO9A:uc002atn.1:exon23:c.A3714G:p.R1238R,MYO9A:uc002atl.5:exon25:c.A3771G:p.R1257R,MYO9A:uc010biq.4:exon23:c.A2631G:p.R877R,	UNKNOWN	Het;T>C	832;63|42	Hom;T>C	2367;0|83
N	N	-	15	72191266	72191266	C	T	snp	nonsynonymous SNV	G3578A	G1193E	aliphatic,neutral	polar,hydrophilic,charged(-)	MYO9A	Myo9a	ENSG00000066933	myosin IXA	chr15:72114632-72410918	This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]	coronary spastic angina	Homozygous KO leads to obstructive hydrocephaly caused by blockage of the third ventricle and the rostral aqueduct caused by developmental failures of their ependymal cells.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;NAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO9A	https://www.uniprot.org/uniprot/B2RTY4	https://hpo.jax.org/app/browse/search?q=MYO9A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604875	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9A&submit=Quick%0D%1237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9A	rs2415129	0.891973	0.9241	0.9447	0.25	3	12	exonic	exonic	exonic	MYO9A	MYO9A	ENSG00000066933	nonsynonymous SNV	nonsynonymous SNV	unknown	MYO9A:NM_006901:exon25:c.G3578A:p.G1193E,	MYO9A:uc002atn.1:exon23:c.G3521A:p.G1174E,MYO9A:uc002atl.5:exon25:c.G3578A:p.G1193E,MYO9A:uc010biq.4:exon23:c.G2438A:p.G813E,	UNKNOWN	Het;C>T	822;76|44	Hom;C>T	3270;0|115
N	N	-	15	72332258	72332258	G	A	snp	ncRNA_intronic	 	 	 	 	AC022872.1																		rs2957750	0.579273	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYO9A	MYO9A	ENSG00000261632	Na	Na	Na	Na	Na	Na	Het;G>A	112;4|6	Hom;G>A	389;0|16
N	N	-	15	72333608	72333608	G	A	snp	ncRNA_exonic	 	 	 	 	EIF5A2P1																		rs2957749	0.896565	0	0	1	0	0	intronic	intronic	ncRNA_exonic	MYO9A	MYO9A	ENSG00000260576	Na	Na	Na	Na	Na	Na	Het;G>A	75;9|6	Hom;G>A	679;0|24
N	N	-	15	72431883	72431883	G	C	snp	intronic	 	 	 	 	SENP8	Senp8	ENSG00000166192	SUMO/sentrin peptidase family member, NEDD8 specific	chr15:72406599-72433311	This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]		 	Neddylation	GO:0006508;proteolysis;IEA|GO:0016579;protein deubiquitination;TAS|GO:0016926;protein desumoylation;IBA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;IBA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016929;SUMO-specific protease activity;IBA|GO:0019784;NEDD8-specific protease activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SENP8			https://www.ncbi.nlm.nih.gov/omim/?term=608659	http://www.informatics.jax.org/searchtool/Search.do?query=SENP8&submit=Quick%0D%11725ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SENP8	rs7175792	0.577476	0	0	1	0	0	intronic	intronic	intronic	SENP8	SENP8	ENSG00000166192	Na	Na	Na	Na	Na	Na	Het;G>C	240;15|11	Hom;G>C	645;0|19
N	N	-	15	72460339	72460339	T	A	snp	intronic	 	 	 	 	GRAMD2	Gramd2	ENSG00000175318	GRAM domain containing 2A	chr15:72452148-72490126			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GRAMD2				http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD2&submit=Quick%0D%13679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD2	rs8025939	0.57528	0	0	1	0	0	intronic	intronic	intronic	GRAMD2	GRAMD2	ENSG00000175318	Na	Na	Na	Na	Na	Na	Het;T>A	155;8|8	Hom;T>A	373;0|13
N	N	-	15	72492779	72492779	C	A	snp	intronic	 	 	 	 	PKM	Pkm	ENSG00000067225	pyruvate kinase, muscle	chr15:72491370-72524164	This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]	Hypercholesterolemia|LDLC levels; BMI rosiglitazone or pioglitazone	Mice homozygous for a spontaneous allele exhibit prenatal lethality around the time of implanatation.	Glycolysis	GO:0001666;response to hypoxia;IEA|GO:0001889;liver development;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0006754;ATP biosynthetic process;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009629;response to gravity;IEA|GO:0010033;response to organic substance;IEA|GO:0012501;programmed cell death;IDA|GO:0014870;response to muscle inactivity;IEA|GO:0016310;phosphorylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0032868;response to insulin;IEA|GO:0032869;cellular response to insulin stimulus;IBA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0051289;protein homotetramerization;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0031012;extracellular matrix;IDA|GO:0031982;vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:1902912;pyruvate kinase complex;IEA|GO:1903561;extracellular vesicle;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004743;pyruvate kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0030955;potassium ion binding;IEA|GO:0042802;identical protein binding;IEA|GO:0043531;ADP binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070324;thyroid hormone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKM	https://www.uniprot.org/uniprot/P14618		https://www.ncbi.nlm.nih.gov/omim/?term=179050	http://www.informatics.jax.org/searchtool/Search.do?query=PKM&submit=Quick%0D%1250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKM	rs8040828	0.580072	0.6676	0.6796	1	0	0	intronic	intronic	intronic	PKM	PKM	ENSG00000067225	Na	Na	Na	Na	Na	Na	Het;C>A	821;65|41	Hom;C>A	1591;0|61
N	N	-	15	72635829	72635829	A	C	snp	UTR3	*589T>G	 	 	 	HEXA	Hexa	ENSG00000213614	hexosaminidase subunit alpha	chr15:72635775-72668817	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]	null; Huntington's disease; apparent beta-hexosaminidase A pseudodeficiency; Tay-Sachs Disease; Tay-Sachs disease; Sanhoff disease; Tay-Sachs disease; subacute G(M2) gangliosidosis; spinal muscular atrophy phenotype; syndrome mimicking amyotrophic lateral sclerosis.	Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal.	Hyaluronan uptake and degradation	GO:0005975;carbohydrate metabolic process;IEA|GO:0006024;glycosaminoglycan biosynthetic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030214;hyaluronan catabolic process;TAS|GO:0042340;keratan sulfate catabolic process;TAS	GO:0005764;lysosome;IEA|GO:0016020;membrane;IDA|GO:0042582;azurophil granule;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004563;beta-N-acetylhexosaminidase activity;TAS|GO:0008375;acetylglucosaminyltransferase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HEXA		https://hpo.jax.org/app/browse/search?q=HEXA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606869	http://www.informatics.jax.org/searchtool/Search.do?query=HEXA&submit=Quick%0D%18144ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEXA	rs11629508	0.693291	0	0	1	0	0	UTR3	ncRNA_intronic	ncRNA_intronic	HEXA(NM_000520:c.*589T>G)	BC034424	ENSG00000260729,ENSG00000261460	Na	Na	Na	Na	Na	Na	Het;A>C	1136;25|49	Hom;A>C	1874;0|66
N	N	-	15	72635903	72635903	C	T	snp	UTR3	*515G>A	 	 	 	HEXA	Hexa	ENSG00000213614	hexosaminidase subunit alpha	chr15:72635775-72668817	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]	null; Huntington's disease; apparent beta-hexosaminidase A pseudodeficiency; Tay-Sachs Disease; Tay-Sachs disease; Sanhoff disease; Tay-Sachs disease; subacute G(M2) gangliosidosis; spinal muscular atrophy phenotype; syndrome mimicking amyotrophic lateral sclerosis.	Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal.	Hyaluronan uptake and degradation	GO:0005975;carbohydrate metabolic process;IEA|GO:0006024;glycosaminoglycan biosynthetic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030214;hyaluronan catabolic process;TAS|GO:0042340;keratan sulfate catabolic process;TAS	GO:0005764;lysosome;IEA|GO:0016020;membrane;IDA|GO:0042582;azurophil granule;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004563;beta-N-acetylhexosaminidase activity;TAS|GO:0008375;acetylglucosaminyltransferase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HEXA		https://hpo.jax.org/app/browse/search?q=HEXA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606869	http://www.informatics.jax.org/searchtool/Search.do?query=HEXA&submit=Quick%0D%18144ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEXA	rs3087652	0.692891	0	0	1	0	0	UTR3	ncRNA_intronic	ncRNA_intronic	HEXA(NM_000520:c.*515G>A)	BC034424	ENSG00000260729,ENSG00000261460	Na	Na	Na	Na	Na	Na	Het;C>T	986;40|46	Hom;C>T	2562;0|94
N	N	-	15	72668539	72668539	T	C	snp	ncRNA_exonic	 	 	 	 	HEXA-AS1																		rs4777505	0.797524	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HEXA-AS1	HEXA-AS1	ENSG00000260339	Na	Na	Na	Na	Na	Na	Het;T>C	1686;72|72	Hom;T>C	3889;0|130
N	N	-	15	72669880	72669880	A	G	snp	ncRNA_exonic	 	 	 	 	HEXA-AS1																		rs4777506	0.796126	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HEXA-AS1	HEXA-AS1	ENSG00000260339	Na	Na	Na	Na	Na	Na	Het;A>G	2003;89|88	Hom;A>G	5145;0|174
N	N	-	15	72670071	72670071	C	T	snp	ncRNA_exonic	 	 	 	 	HEXA-AS1																		rs4777507	0.795327	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HEXA-AS1	HEXA-AS1	ENSG00000260339	Na	Na	Na	Na	Na	Na	Het;C>T	2157;98|102	Hom;C>T	3649;2|136
N	N	-	15	72859047	72859047	A	AT	indel	intronic	 	 	 	 	ARIH1	Arih1	ENSG00000166233	ariadne RBR E3 ubiquitin protein ligase 1	chr15:72766667-72879692		Cholesterol, LDL; Resistin	 	ISG15 antiviral mechanism	GO:0000209;protein polyubiquitination;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0016567;protein ubiquitination;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA	GO:0000151;ubiquitin ligase complex;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0015030;Cajal body;IEA|GO:0016604;nuclear body;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA|GO:0031462;Cul2-RING ubiquitin ligase complex;IDA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA|GO:0097413;Lewy body;IDA	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0019787;ubiquitin-like protein transferase activity;TAS|GO:0031624;ubiquitin conjugating enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ARIH1			https://www.ncbi.nlm.nih.gov/omim/?term=605624	http://www.informatics.jax.org/searchtool/Search.do?query=ARIH1&submit=Quick%0D%11736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARIH1	rs11403578	0.455471	0	0	1	0	0	intronic	intronic	intronic	ARIH1	ARIH1	ENSG00000166233	Na	Na	Na	Na	Na	Na	Het;+T	107;1|6	Hom;+T	184;0|8
N	N	-	15	72903700	72903700	C	T	snp	upstream	 	 	 	 	DQ582071																		rs7496841	0.777356	0	0	1	0	0	intergenic	upstream	ncRNA_intronic	MIR630(dist=24046),GOLGA6B(dist=43338)	DQ582071	ENSG00000259783,ENSG00000260144	Na	Na	Na	Na	Na	Na	Het;C>T	71;2|5	Hom;C>T	277;0|11
N	N	-	15	72954638	72954638	A	G	snp	nonsynonymous SNV	A893G	E298G	polar,hydrophilic,charged(-)	aliphatic,neutral	GOLGA6B	 	ENSG00000215186	golgin A6 family member B	chr15:72947079-72958735	This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008]		 			GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GOLGA6B				http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA6B&submit=Quick%0D%18315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA6B	rs201621826	0.0605032	0.0466	0.0640	0.25	3	12	exonic	exonic	exonic	GOLGA6B	GOLGA6B	ENSG00000215186	nonsynonymous SNV	nonsynonymous SNV	unknown	GOLGA6B:NM_018652:exon11:c.A893G:p.E298G,	GOLGA6B:uc010uks.1:exon11:c.A893G:p.E298G,	UNKNOWN	Het;A>G	437;142|39	Hom;A>G	1132;3|45
N	N	-	15	73859343	73859344	CT	C	indel	ncRNA_exonic	 	 	 	 	NPTN-IT1																		rs10539085	0.193091	0	0	1	0	0	ncRNA_exonic	intronic	intronic	NPTN-IT1	NPTN	ENSG00000156642	Na	Na	Na	Na	Na	Na	Het;-T	447;12|36	Hom;-T	780;2|42
N	N	-	15	73958254	73958254	G	T	snp	intergenic	 	 	 	 	NPTN	Nptn	ENSG00000156642	neuroplastin	chr15:73852355-73926475	This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]	Schizophrenia; Waist-Hip Ratio	Mice homozygous for a knock-out allele exhibit abnormal dendritic spine morphology, decreased CNS synapse formation, abnormal CNS synaptic transmission and impaired hearing.	Neurotransmitter receptors and postsynaptic signal transmission	GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007399;nervous system development;IEA|GO:0008542;visual learning;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0045743;positive regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0060291;long-term synaptic potentiation;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902683;regulation of receptor localization to synapse;IEA|GO:1903829;positive regulation of cellular protein localization;IEA|GO:1904861;excitatory synapse assembly;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0042734;presynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0097060;synaptic membrane;IEA	GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0005105;type 1 fibroblast growth factor receptor binding;ISS|GO:0044325;ion channel binding;IEA|GO:0050839;cell adhesion molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NPTN	https://www.uniprot.org/uniprot/Q9Y639		https://www.ncbi.nlm.nih.gov/omim/?term=612820	http://www.informatics.jax.org/searchtool/Search.do?query=NPTN&submit=Quick%0D%10005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPTN	rs7495095	0.525759	0	0	1	0	0	intergenic	intergenic	intergenic	NPTN(dist=32501),CD276(dist=18368)	NPTN(dist=32501),CD276(dist=18368)	ENSG00000156642(dist=31779),ENSG00000103855(dist=18053)	Na	Na	Na	Na	Na	Na	Het;G>T	289;7|11	Hom;G>T	72;0|5
N	N	-	15	73958290	73958290	C	T	snp	intergenic	 	 	 	 	NPTN	Nptn	ENSG00000156642	neuroplastin	chr15:73852355-73926475	This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]	Schizophrenia; Waist-Hip Ratio	Mice homozygous for a knock-out allele exhibit abnormal dendritic spine morphology, decreased CNS synapse formation, abnormal CNS synaptic transmission and impaired hearing.	Neurotransmitter receptors and postsynaptic signal transmission	GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007399;nervous system development;IEA|GO:0008542;visual learning;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0045743;positive regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0060291;long-term synaptic potentiation;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902683;regulation of receptor localization to synapse;IEA|GO:1903829;positive regulation of cellular protein localization;IEA|GO:1904861;excitatory synapse assembly;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0042734;presynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0097060;synaptic membrane;IEA	GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0005105;type 1 fibroblast growth factor receptor binding;ISS|GO:0044325;ion channel binding;IEA|GO:0050839;cell adhesion molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NPTN	https://www.uniprot.org/uniprot/Q9Y639		https://www.ncbi.nlm.nih.gov/omim/?term=612820	http://www.informatics.jax.org/searchtool/Search.do?query=NPTN&submit=Quick%0D%10005ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPTN	rs8024862	0.511382	0	0	1	0	0	intergenic	intergenic	intergenic	NPTN(dist=32537),CD276(dist=18332)	NPTN(dist=32537),CD276(dist=18332)	ENSG00000156642(dist=31815),ENSG00000103855(dist=18017)	Na	Na	Na	Na	Na	Na	Het;C>T	46;3|4	Hom;C>T	139;0|6
N	N	-	15	74000506	74000506	T	G	snp	intronic	 	 	 	 	CD276	Cd276	ENSG00000103855	CD276 molecule	chr15:73976307-74006859	The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Bipolar Disorder; Myocardial Infarction; gamma-Glutamyltransferase	Inactivation of this locus results in abnormal T helper 1 physiology. Mutant mice have an increased susceptibility to inflammation and autoimmunity.		GO:0006955;immune response;NAS|GO:0008283;cell proliferation;NAS|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0042110;T cell activation;IDA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;IDA|GO:0050776;regulation of immune response;NAS	GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CD276	https://www.uniprot.org/uniprot/Q5ZPR3		https://www.ncbi.nlm.nih.gov/omim/?term=605715	http://www.informatics.jax.org/searchtool/Search.do?query=CD276&submit=Quick%0D%3060ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD276	rs2291013	0.32488	0	0	1	0	0	intronic	intronic	intronic	CD276	CD276	ENSG00000103855	Na	Na	Na	Na	Na	Na	Het;T>G	125;1|4	Hom;T>G	185;0|5
N	N	-	15	74000839	74000839	G	A	snp	intronic	 	 	 	 	CD276	Cd276	ENSG00000103855	CD276 molecule	chr15:73976307-74006859	The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Bipolar Disorder; Myocardial Infarction; gamma-Glutamyltransferase	Inactivation of this locus results in abnormal T helper 1 physiology. Mutant mice have an increased susceptibility to inflammation and autoimmunity.		GO:0006955;immune response;NAS|GO:0008283;cell proliferation;NAS|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0042110;T cell activation;IDA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;IDA|GO:0050776;regulation of immune response;NAS	GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CD276	https://www.uniprot.org/uniprot/Q5ZPR3		https://www.ncbi.nlm.nih.gov/omim/?term=605715	http://www.informatics.jax.org/searchtool/Search.do?query=CD276&submit=Quick%0D%3060ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD276	rs2291011	0.323482	0.3569	0.4265	1	0	0	intronic	intronic	intronic	CD276	CD276	ENSG00000103855	Na	Na	Na	Na	Na	Na	Het;G>A	540;34|25	Hom;G>A	2141;0|84
N	N	-	15	74061709	74061709	T	TTTTTTC	indel	ncRNA_intronic	 	 	 	 	C15orf59-AS1																		rs144830863	0.224042	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	C15orf59-AS1	C15orf59(dist=17893),TBC1D21(dist=104259)	ENSG00000260469	Na	Na	Na	Na	Na	Na	Het;+TTTTTC	116;5|3	Hom;+TTTTTC	323;0|8
N	N	-	15	74277795	74277795	T	C	snp	synonymous SNV	A504G	A168A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	STOML1	Stoml1	ENSG00000067221	stomatin like 1	chr15:74275547-74286963			Mice homozygous for a gene-trapped allele are viable and free of overt neurological phenotypes but show a mild, but specific, disinhibition of certain proton-gated currents in dorsal root ganglia neurons.		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STOML1	https://www.uniprot.org/uniprot/Q9UBI4		https://www.ncbi.nlm.nih.gov/omim/?term=608326	http://www.informatics.jax.org/searchtool/Search.do?query=STOML1&submit=Quick%0D%1249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STOML1	rs10851866	0.686102	0.6967	0.6859	1	0	0	exonic	exonic	exonic	STOML1	STOML1	ENSG00000067221	synonymous SNV	synonymous SNV	unknown	STOML1:NM_001256672:exon5:c.A654G:p.A218A,STOML1:NM_001256675:exon5:c.A654G:p.A218A,STOML1:NM_001256676:exon5:c.A393G:p.A131A,STOML1:NM_001256677:exon6:c.A528G:p.A176A,STOML1:NM_001256673:exon4:c.A504G:p.A168A,STOML1:NM_004809:exon5:c.A654G:p.A218A,STOML1:NM_001256674:exon4:c.A504G:p.A168A,	STOML1:uc002awg.4:exon4:c.A504G:p.A168A,STOML1:uc002awe.4:exon5:c.A654G:p.A218A,STOML1:uc010uld.3:exon6:c.A528G:p.A176A,STOML1:uc010bje.4:exon5:c.A654G:p.A218A,STOML1:uc002awf.4:exon5:c.A654G:p.A218A,STOML1:uc002awh.4:exon4:c.A504G:p.A168A,STOML1:uc031qsr.1:exon5:c.A393G:p.A131A,	UNKNOWN	Het;T>C	120;23|10	Hom;T>C	1159;0|46
N	N	-	15	74284406	74284406	C	G	snp	intronic	 	 	 	 	STOML1	Stoml1	ENSG00000067221	stomatin like 1	chr15:74275547-74286963			Mice homozygous for a gene-trapped allele are viable and free of overt neurological phenotypes but show a mild, but specific, disinhibition of certain proton-gated currents in dorsal root ganglia neurons.		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STOML1	https://www.uniprot.org/uniprot/Q9UBI4		https://www.ncbi.nlm.nih.gov/omim/?term=608326	http://www.informatics.jax.org/searchtool/Search.do?query=STOML1&submit=Quick%0D%1249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STOML1	rs2304715	0.498602	0.5781	0.5969	1	0	0	intronic	intronic	intronic	STOML1	STOML1	ENSG00000067221	Na	Na	Na	Na	Na	Na	Het;C>G	167;3|8	Hom;C>G	232;0|8
N	N	-	15	74287078	74287078	T	C	snp	UTR5	-76T>C	 	 	 	PML	Pml	ENSG00000140464	promyelocytic leukemia	chr15:74287014-74340153	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease	Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors.	Regulation of PTEN localization	GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PML	https://www.uniprot.org/uniprot/P29590	https://hpo.jax.org/app/browse/search?q=PML&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102578	http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PML	rs558192870	0.00239617	0	0	1	0	0	UTR5	UTR5	UTR5	PML(NM_033244:c.-76T>C,NM_033246:c.-76T>C,NM_033240:c.-76T>C,NM_033239:c.-76T>C,NM_002675:c.-76T>C,NM_033238:c.-76T>C,NM_033250:c.-76T>C,NM_033249:c.-76T>C,NM_033247:c.-76T>C)	PML(uc002awj.1:c.-76T>C,uc002awm.3:c.-76T>C,uc002awl.3:c.-76T>C,uc002awk.3:c.-76T>C,uc002awn.3:c.-76T>C,uc002awo.3:c.-76T>C,uc002awp.3:c.-76T>C,uc002awq.3:c.-76T>C,uc002awr.3:c.-76T>C,uc002aws.3:c.-76T>C,uc002awt.3:c.-76T>C,uc002awu.3:c.-76T>C,uc002awv.3:c.-76T>C)	ENSG00000140464(ENST00000395135:c.-76T>C,ENST00000268058:c.-76T>C,ENST00000354026:c.-76T>C,ENST00000268059:c.-76T>C,ENST00000395132:c.-76T>C,ENST00000565898:c.-76T>C,ENST00000569477:c.-76T>C,ENST00000569965:c.-76T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	136;7|5	Hom;T>C	472;1|16
N	N	-	15	74290993	74290993	G	T	snp	intronic	 	 	 	 	PML	Pml	ENSG00000140464	promyelocytic leukemia	chr15:74287014-74340153	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease	Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors.	Regulation of PTEN localization	GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PML	https://www.uniprot.org/uniprot/P29590	https://hpo.jax.org/app/browse/search?q=PML&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102578	http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PML	rs3784563	0.199681	0	0	1	0	0	intronic	intronic	intronic	PML	PML	ENSG00000140464	Na	Na	Na	Na	Na	Na	Het;G>T	89;1|4	Hom;G>T	133;0|5
N	N	-	15	74317043	74317043	T	C	snp	intronic	 	 	 	 	PML	Pml	ENSG00000140464	promyelocytic leukemia	chr15:74287014-74340153	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease	Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors.	Regulation of PTEN localization	GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PML	https://www.uniprot.org/uniprot/P29590	https://hpo.jax.org/app/browse/search?q=PML&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102578	http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PML	rs2277599	0.553914	0	0	1	0	0	intronic	intronic	intronic	PML	PML	ENSG00000140464	Na	Na	Na	Na	Na	Na	Het;T>C	86;1|4	Hom;T>C	145;0|6
N	N	-	15	74317362	74317362	G	A	snp	UTR3	*79G>A	 	 	 	PML	Pml	ENSG00000140464	promyelocytic leukemia	chr15:74287014-74340153	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease	Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors.	Regulation of PTEN localization	GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PML	https://www.uniprot.org/uniprot/P29590	https://hpo.jax.org/app/browse/search?q=PML&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102578	http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PML	rs3825941	0.208067	0	0	1	0	0	intronic	UTR3	intronic	PML	PML(uc002aww.1:c.*79G>A)	ENSG00000140464	Na	Na	Na	Na	Na	Na	Het;G>A	184;1|8	Hom;G>A	264;0|9
N	N	-	15	74326711	74326711	G	A	snp	UTR3	*762G>A	 	 	 	PML	Pml	ENSG00000140464	promyelocytic leukemia	chr15:74287014-74340153	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease	Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors.	Regulation of PTEN localization	GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PML	https://www.uniprot.org/uniprot/P29590	https://hpo.jax.org/app/browse/search?q=PML&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102578	http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PML	rs2304718	0.46845	0	0	1	0	0	intronic	UTR3	UTR3	PML	PML(uc002awj.1:c.*762G>A)	ENSG00000140464(ENST00000563500:c.*762G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	75;2|4	Hom;G>A	190;0|8
N	N	-	15	74328116	74328116	A	G	snp	nonsynonymous SNV	A2314G	S772G	polar,hydrophilic,neutral	aliphatic,neutral	PML	Pml	ENSG00000140464	promyelocytic leukemia	chr15:74287014-74340153	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease	Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors.	Regulation of PTEN localization	GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PML	https://www.uniprot.org/uniprot/P29590	https://hpo.jax.org/app/browse/search?q=PML&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102578	http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PML	rs743580	0.551917	0.4991	0.5226	0.10	1	10	exonic	exonic	exonic	PML	PML	ENSG00000140464	nonsynonymous SNV	nonsynonymous SNV	unknown	PML:NM_033239:exon8:c.A2314G:p.S772G,PML:NM_033250:exon7:c.A2170G:p.S724G,	PML:uc002awy.3:exon3:c.A601G:p.S201G,PML:uc002awk.3:exon8:c.A2314G:p.S772G,PML:uc002awo.3:exon7:c.A2170G:p.S724G,	UNKNOWN	Het;A>G	1179;77|46	Hom;A>G	3350;2|113
N	N	-	15	74328141	74328141	G	T	snp	nonsynonymous SNV	G2339T	G780V	aliphatic,neutral	aliphatic,hydrophobic,neutral	PML	Pml	ENSG00000140464	promyelocytic leukemia	chr15:74287014-74340153	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease	Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors.	Regulation of PTEN localization	GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PML	https://www.uniprot.org/uniprot/P29590	https://hpo.jax.org/app/browse/search?q=PML&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102578	http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PML	rs743581	0.351238	0.3464	0.3599	0.10	1	10	exonic	exonic	exonic	PML	PML	ENSG00000140464	nonsynonymous SNV	nonsynonymous SNV	unknown	PML:NM_033239:exon8:c.G2339T:p.G780V,PML:NM_033250:exon7:c.G2195T:p.G732V,	PML:uc002awy.3:exon3:c.G626T:p.G209V,PML:uc002awk.3:exon8:c.G2339T:p.G780V,PML:uc002awo.3:exon7:c.G2195T:p.G732V,	UNKNOWN	Het;G>T	1077;59|46	Hom;G>T	3117;0|109
N	N	-	15	74357352	74357352	T	C	snp	intergenic	 	 	 	 	DNM1P33																		rs28435321	0.260783	0	0	1	0	0	intergenic	intergenic	intergenic	PML(dist=17197),GOLGA6A(dist=4846)	DQ587117(dist=1226),GOLGA6A(dist=4846)	ENSG00000260096(dist=1226),ENSG00000159289(dist=4846)	Na	Na	Na	Na	Na	Na	Het;T>C	1161;23|48	Hom;T>C	1268;0|44
N	N	-	15	74419237	74419251	TTGTGTGTGTGTGTG	T	indel	ncRNA_exonic	 	 	 	 	LOC283731																		Na	0	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LOC283731	LOC283731(uc002axc.2:c.*1529_*1515delinsA)	ENSG00000248540(ENST00000563727:c.*1529_*1515delinsA,ENST00000514871:c.*1529_*1515delinsA)	Na	Na	Na	Na	Na	Na	Het;-TGTGTGTGTGTGTG	2340;10|55	Hom;-TGTGTGTGTGTGTG	2373;4|60
N	N	-	15	74421010	74421010	C	G	snp	unknown	 	 	 	 	AC010931.2																		rs2279379	0.43151	0	0.3824	1	0	0	ncRNA_intronic	intronic	exonic	LOC283731	LOC283731	ENSG00000248540	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>G	170;6|6	Hom;C>G	301;0|8
N	N	-	15	74499956	74499956	G	C	snp	ncRNA_intronic	 	 	 	 	HP11097																		rs351222	0.470248	0	0	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	STRA6	HP11097	ENSG00000259264	Na	Na	Na	Na	Na	Na	Het;G>C	448;17|22	Hom;G>C	1755;2|61
N	N	-	15	74659609	74659609	G	T	snp	intronic	 	 	 	 	CYP11A1	Cyp11a1	ENSG00000140459	cytochrome P450 family 11 subfamily A member 1	chr15:74630100-74660081	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]	androgens endometrial cancer estrogens progesterone; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; colorectal cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; polycystic ovary syndrome; hyperandrogenism; Acquired Immunodeficiency Syndrome|Disease Progression; Bone Mineral Density; Endometrial Neoplasms; Autism; Polycystic Ovary Syndrome; polycystic ovary syndrome; null; patent ductus arteriosus; body mass polycystic ovarian syndrome; Endometrial Neoplasms|; Hypertension; testosterone; estradiol; androstenedione; DHEA; progesterone; Hyperandrogenism|Polycystic Ovary Syndrome; breast cancer; Celiac Disease|; Glucose; breast cancer ; polycystic ovary syndrome; testosterone; advanced prostate cancer; ovarian hyperstimulation syndrome; lung cancer; breast cancer|prostate cancer; Hyperandrogenism; prostate cancer	Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality.	Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0008207;C21-steroid hormone metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0042359;vitamin D metabolic process;ISS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008386;cholesterol monooxygenase (side-chain-cleaving) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP11A1	https://www.uniprot.org/uniprot/P05108	https://hpo.jax.org/app/browse/search?q=CYP11A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=118485	http://www.informatics.jax.org/searchtool/Search.do?query=CYP11A1&submit=Quick%0D%8026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11A1	rs28681535	0.378794	0.2825	0.2474	1	0	0	intronic	intronic	intronic	CYP11A1	CYP11A1	ENSG00000140459	Na	Na	Na	Na	Na	Na	Het;G>T	246;7|12	Hom;G>T	563;0|20
N	N	-	15	74667192	74667192	G	A	snp	intergenic	 	 	 	 	CYP11A1	Cyp11a1	ENSG00000140459	cytochrome P450 family 11 subfamily A member 1	chr15:74630100-74660081	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]	androgens endometrial cancer estrogens progesterone; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; colorectal cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; polycystic ovary syndrome; hyperandrogenism; Acquired Immunodeficiency Syndrome|Disease Progression; Bone Mineral Density; Endometrial Neoplasms; Autism; Polycystic Ovary Syndrome; polycystic ovary syndrome; null; patent ductus arteriosus; body mass polycystic ovarian syndrome; Endometrial Neoplasms|; Hypertension; testosterone; estradiol; androstenedione; DHEA; progesterone; Hyperandrogenism|Polycystic Ovary Syndrome; breast cancer; Celiac Disease|; Glucose; breast cancer ; polycystic ovary syndrome; testosterone; advanced prostate cancer; ovarian hyperstimulation syndrome; lung cancer; breast cancer|prostate cancer; Hyperandrogenism; prostate cancer	Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality.	Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0008207;C21-steroid hormone metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0042359;vitamin D metabolic process;ISS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008386;cholesterol monooxygenase (side-chain-cleaving) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP11A1	https://www.uniprot.org/uniprot/P05108	https://hpo.jax.org/app/browse/search?q=CYP11A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=118485	http://www.informatics.jax.org/searchtool/Search.do?query=CYP11A1&submit=Quick%0D%8026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11A1	rs12438594	0.34405	0	0	1	0	0	intergenic	intergenic	intergenic	CYP11A1(dist=7111),SEMA7A(dist=34438)	CYP11A1(dist=7111),SEMA7A(dist=34438)	ENSG00000140459(dist=7111),ENSG00000138623(dist=34438)	Na	Na	Na	Na	Na	Na	Het;G>A	41;2|3	Hom;G>A	106;0|5
N	N	-	15	74709566	74709566	T	G	snp	intronic	 	 	 	 	SEMA7A	Sema7a	ENSG00000138623	semaphorin 7A (John Milton Hagen blood group)	chr15:74701630-74726808	This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]	bone density fracture risk	The development of the olfactory tract is impaired in homozygous null mice.	Other semaphorin interactions	GO:0001649;osteoblast differentiation;IDA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0021988;olfactory lobe development;IEA|GO:0030154;cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0045773;positive regulation of axon extension;IDA|GO:0048675;axon extension;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0031225;anchored component of membrane;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA7A	https://www.uniprot.org/uniprot/O75326		https://www.ncbi.nlm.nih.gov/omim/?term=607961	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA7A&submit=Quick%0D%7757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA7A	rs2075590	0.307907	0	0	1	0	0	intronic	intronic	intronic	SEMA7A	SEMA7A	ENSG00000138623	Na	Na	Na	Na	Na	Na	Het;T>G	160;14|7	Hom;T>G	724;0|24
N	N	-	15	75305040	75305040	A	G	snp	synonymous SNV	A30G	P10P	hydrophobic,neutral	hydrophobic,neutral	SCAMP5	Scamp5	ENSG00000198794	secretory carrier membrane protein 5	chr15:75249560-75313837			 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045806;negative regulation of endocytosis;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0000139;Golgi membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0045202;synapse;IEA|GO:0055038;recycling endosome membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCAMP5			https://www.ncbi.nlm.nih.gov/omim/?term=613766	http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP5&submit=Quick%0D%17008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP5	rs7174129	0.324481	0.1679	0.1857	1	0	0	exonic	exonic	exonic	SCAMP5	SCAMP5	ENSG00000198794	synonymous SNV	synonymous SNV	unknown	SCAMP5:NM_001178112:exon4:c.A30G:p.P10P,SCAMP5:NM_138967:exon3:c.A30G:p.P10P,SCAMP5:NM_001178111:exon4:c.A30G:p.P10P,	SCAMP5:uc002azn.2:exon3:c.A30G:p.P10P,SCAMP5:uc002azl.2:exon4:c.A30G:p.P10P,SCAMP5:uc002azm.2:exon4:c.A30G:p.P10P,SCAMP5:uc002azk.2:exon3:c.A30G:p.P10P,	UNKNOWN	Het;A>G	856;64|44	Hom;A>G	3346;0|121
N	N	-	15	75310394	75310394	T	C	snp	intronic	 	 	 	 	SCAMP5	Scamp5	ENSG00000198794	secretory carrier membrane protein 5	chr15:75249560-75313837			 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045806;negative regulation of endocytosis;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0000139;Golgi membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0045202;synapse;IEA|GO:0055038;recycling endosome membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCAMP5			https://www.ncbi.nlm.nih.gov/omim/?term=613766	http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP5&submit=Quick%0D%17008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP5	rs2289582	0.393371	0	0	1	0	0	intronic	intronic	intronic	SCAMP5	SCAMP5	ENSG00000198794	Na	Na	Na	Na	Na	Na	Het;T>C	939;54|42	Hom;T>C	2166;1|80
N	N	-	15	75310710	75310710	T	C	snp	intronic	 	 	 	 	SCAMP5	Scamp5	ENSG00000198794	secretory carrier membrane protein 5	chr15:75249560-75313837			 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045806;negative regulation of endocytosis;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0000139;Golgi membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0045202;synapse;IEA|GO:0055038;recycling endosome membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCAMP5			https://www.ncbi.nlm.nih.gov/omim/?term=613766	http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP5&submit=Quick%0D%17008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP5	rs74023908	0.298922	0.1365	0.1775	1	0	0	intronic	intronic	intronic	SCAMP5	SCAMP5	ENSG00000198794	Na	Na	Na	Na	Na	Na	Het;T>C	801;30|38	Hom;T>C	2603;0|93
N	N	-	15	75311842	75311842	G	C	snp	UTR3	*518G>C	 	 	 	SCAMP5	Scamp5	ENSG00000198794	secretory carrier membrane protein 5	chr15:75249560-75313837			 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045806;negative regulation of endocytosis;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0000139;Golgi membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0045202;synapse;IEA|GO:0055038;recycling endosome membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCAMP5			https://www.ncbi.nlm.nih.gov/omim/?term=613766	http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP5&submit=Quick%0D%17008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP5	rs8034149	0.297125	0	0	1	0	0	UTR3	UTR3	UTR3	SCAMP5(NM_001178112:c.*518G>C,NM_001178111:c.*518G>C,NM_138967:c.*518G>C)	SCAMP5(uc002azl.2:c.*518G>C,uc002azm.2:c.*518G>C,uc002azk.2:c.*518G>C,uc010uly.2:c.*518G>C,uc002azn.2:c.*518G>C)	ENSG00000198794(ENST00000425597:c.*518G>C,ENST00000562212:c.*518G>C,ENST00000545456:c.*518G>C,ENST00000361900:c.*518G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1075;26|41	Hom;G>C	3001;0|97
N	N	-	15	75311959	75311959	A	G	snp	UTR3	*635A>G	 	 	 	SCAMP5	Scamp5	ENSG00000198794	secretory carrier membrane protein 5	chr15:75249560-75313837			 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045806;negative regulation of endocytosis;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0000139;Golgi membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0045202;synapse;IEA|GO:0055038;recycling endosome membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCAMP5			https://www.ncbi.nlm.nih.gov/omim/?term=613766	http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP5&submit=Quick%0D%17008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP5	rs8033925	0.45028	0	0	1	0	0	UTR3	UTR3	UTR3	SCAMP5(NM_001178112:c.*635A>G,NM_001178111:c.*635A>G,NM_138967:c.*635A>G)	SCAMP5(uc002azl.2:c.*635A>G,uc002azm.2:c.*635A>G,uc002azk.2:c.*635A>G,uc010uly.2:c.*635A>G,uc002azn.2:c.*635A>G)	ENSG00000198794(ENST00000425597:c.*635A>G,ENST00000562212:c.*635A>G,ENST00000545456:c.*635A>G,ENST00000361900:c.*635A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1107;65|48	Hom;A>G	4214;0|142
N	N	-	15	75312187	75312187	A	G	snp	UTR3	*863A>G	 	 	 	SCAMP5	Scamp5	ENSG00000198794	secretory carrier membrane protein 5	chr15:75249560-75313837			 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045806;negative regulation of endocytosis;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0000139;Golgi membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0045202;synapse;IEA|GO:0055038;recycling endosome membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCAMP5			https://www.ncbi.nlm.nih.gov/omim/?term=613766	http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP5&submit=Quick%0D%17008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP5	rs13056	0.45028	0	0	1	0	0	UTR3	UTR3	UTR3	SCAMP5(NM_001178112:c.*863A>G,NM_001178111:c.*863A>G,NM_138967:c.*863A>G)	SCAMP5(uc002azl.2:c.*863A>G,uc002azm.2:c.*863A>G,uc002azk.2:c.*863A>G,uc010uly.2:c.*863A>G,uc002azn.2:c.*863A>G)	ENSG00000198794(ENST00000425597:c.*863A>G,ENST00000562212:c.*863A>G,ENST00000545456:c.*863A>G,ENST00000361900:c.*863A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1933;66|79	Hom;A>G	4006;0|141
N	N	-	15	75312715	75312715	C	G	snp	UTR3	*1391C>G	 	 	 	SCAMP5	Scamp5	ENSG00000198794	secretory carrier membrane protein 5	chr15:75249560-75313837			 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045806;negative regulation of endocytosis;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IDA|GO:0050715;positive regulation of cytokine secretion;IDA	GO:0000139;Golgi membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0045202;synapse;IEA|GO:0055038;recycling endosome membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCAMP5			https://www.ncbi.nlm.nih.gov/omim/?term=613766	http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP5&submit=Quick%0D%17008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP5	rs3812943	0.206669	0	0	1	0	0	UTR3	UTR3	UTR3	SCAMP5(NM_001178112:c.*1391C>G,NM_001178111:c.*1391C>G,NM_138967:c.*1391C>G)	SCAMP5(uc002azl.2:c.*1391C>G,uc002azm.2:c.*1391C>G,uc002azk.2:c.*1391C>G,uc010uly.2:c.*1391C>G,uc002azn.2:c.*1391C>G)	ENSG00000198794(ENST00000425597:c.*1391C>G,ENST00000562212:c.*1391C>G,ENST00000545456:c.*1391C>G,ENST00000361900:c.*1391C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1484;53|66	Hom;C>G	3422;0|119
N	N	-	15	75315778	75315778	A	G	snp	upstream;downstream	 	 	 	 	ENSG00000138621																		rs2304903	0.449081	0	0	1	0	0	upstream	upstream	upstream;downstream	PPCDC	PPCDC	ENSG00000138621;ENSG00000260483	Na	Na	Na	Na	Na	Na	Het;A>G	49;7|3	Hom;A>G	150;0|7
N	N	-	15	75315975	75315975	G	A	snp	intronic	 	 	 	 	PPCDC	Ppcdc	ENSG00000138621	phosphopantothenoylcysteine decarboxylase	chr15:75315896-75409803	Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]	Body Height; Caffeine	 	Coenzyme A biosynthesis	GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IDA	GO:0005829;cytosol;TAS	GO:0003824;catalytic activity;IEA|GO:0004633;phosphopantothenoylcysteine decarboxylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPCDC	https://www.uniprot.org/uniprot/Q96CD2		https://www.ncbi.nlm.nih.gov/omim/?term=609854	http://www.informatics.jax.org/searchtool/Search.do?query=PPCDC&submit=Quick%0D%7755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPCDC	rs2304904	0.205272	0	0	1	0	0	intronic	intronic	intronic	PPCDC	PPCDC	ENSG00000138621	Na	Na	Na	Na	Na	Na	Het;G>A	484;39|27	Hom;G>A	1541;0|61
N	N	-	15	75393205	75393205	T	A	snp	intergenic	 	 	 	 	NONE																		rs56266638	0.48722	0	0	1	0	0	intergenic	intergenic	intergenic	PPCDC(dist=50138),C15orf39(dist=101016)	PPCDC(dist=50138),C15orf39(dist=98028)	NONE(dist=NONE),ENSG00000260152(dist=13397)	Na	Na	Na	Na	Na	Na	Het;T>A	164;1|7	Hom;T>A	209;0|9
N	N	-	15	75588262	75588262	G	A	snp	downstream	 	 	 	 	GOLGA6D	 	ENSG00000140478	golgin A6 family member D	chr15:75575176-75586816			 			GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GOLGA6D	https://www.uniprot.org/uniprot/P0CG33			http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA6D&submit=Quick%0D%8033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA6D	rs11631833	0.372604	0	0	1	0	0	downstream	downstream	intergenic	GOLGA6D	GOLGA6D	ENSG00000140478(dist=1446),ENSG00000260357(dist=4032)	Na	Na	Na	Na	Na	Na	Het;G>A	392;18|20	Hom;G>A	732;0|27
N	N	-	15	75592794	75592794	T	C	snp	ncRNA_exonic	 	 	 	 	DNM1P34																		rs8041986	0.754792	0	0	1	0	0	intergenic	downstream	ncRNA_exonic	GOLGA6D(dist=4646),COMMD4(dist=35543)	DNM1P34	ENSG00000260357	Na	Na	Na	Na	Na	Na	Het;T>C	218;2|6	Hom;T>C	1294;0|29
N	N	-	15	75592798	75592798	A	G	snp	ncRNA_exonic	 	 	 	 	DNM1P34																		rs8040622	0.697684	0	0	1	0	0	intergenic	downstream	ncRNA_exonic	GOLGA6D(dist=4650),COMMD4(dist=35539)	DNM1P34	ENSG00000260357	Na	Na	Na	Na	Na	Na	Het;A>G	250;2|7	Hom;A>G	1294;0|29
N	N	-	15	75592851	75592851	C	G	snp	ncRNA_exonic	 	 	 	 	DNM1P34																		rs8040917	0.743411	0	0	1	0	0	intergenic	downstream	ncRNA_exonic	GOLGA6D(dist=4703),COMMD4(dist=35486)	DNM1P34	ENSG00000260357	Na	Na	Na	Na	Na	Na	Het;C>G	262;0|12	Hom;C>G	1401;0|50
N	N	-	15	75977920	75977920	A	G	snp	synonymous SNV	T3912C	P1304P	hydrophobic,neutral	hydrophobic,neutral	CSPG4	Cspg4	ENSG00000173546	chondroitin sulfate proteoglycan 4	chr15:75966663-76005189	A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Tobacco Use Disorder	Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology.	Defective B3GALT6 causes EDSP2 and SEMDJL1	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA	GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CSPG4			https://www.ncbi.nlm.nih.gov/omim/?term=601172	http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4	rs62027240	0.394369	0.4306	0.4891	1	0	0	exonic	exonic	exonic	CSPG4	CSPG4	ENSG00000173546	synonymous SNV	synonymous SNV	unknown	CSPG4:NM_001897:exon4:c.T3912C:p.P1304P,	CSPG4:uc002baw.3:exon4:c.T3912C:p.P1304P,	UNKNOWN	Het;A>G	1640;136|84	Hom;A>G	5624;0|204
N	N	-	15	75979782	75979782	G	T	snp	synonymous SNV	C3624A	R1208R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CSPG4	Cspg4	ENSG00000173546	chondroitin sulfate proteoglycan 4	chr15:75966663-76005189	A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Tobacco Use Disorder	Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology.	Defective B3GALT6 causes EDSP2 and SEMDJL1	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA	GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CSPG4			https://www.ncbi.nlm.nih.gov/omim/?term=601172	http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4	rs8030131	0.384385	0.4598	0.4831	1	0	0	exonic	exonic	exonic	CSPG4	CSPG4	ENSG00000173546	synonymous SNV	synonymous SNV	unknown	CSPG4:NM_001897:exon3:c.C3624A:p.R1208R,	CSPG4:uc002baw.3:exon3:c.C3624A:p.R1208R,	UNKNOWN	Het;G>T	1754;85|85	Hom;G>T	2998;2|111
N	N	-	15	75980112	75980112	A	G	snp	synonymous SNV	T3294C	A1098A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CSPG4	Cspg4	ENSG00000173546	chondroitin sulfate proteoglycan 4	chr15:75966663-76005189	A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Tobacco Use Disorder	Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology.	Defective B3GALT6 causes EDSP2 and SEMDJL1	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA	GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CSPG4			https://www.ncbi.nlm.nih.gov/omim/?term=601172	http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4	rs4414463	0.441294	0.5088	0.5096	1	0	0	exonic	exonic	exonic	CSPG4	CSPG4	ENSG00000173546	synonymous SNV	synonymous SNV	unknown	CSPG4:NM_001897:exon3:c.T3294C:p.A1098A,	CSPG4:uc002baw.3:exon3:c.T3294C:p.A1098A,	UNKNOWN	Het;A>G	1630;82|74	Hom;A>G	4282;0|142
N	N	-	15	75981507	75981507	A	G	snp	synonymous SNV	T1899C	G633G	aliphatic,neutral	aliphatic,neutral	CSPG4	Cspg4	ENSG00000173546	chondroitin sulfate proteoglycan 4	chr15:75966663-76005189	A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Tobacco Use Disorder	Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology.	Defective B3GALT6 causes EDSP2 and SEMDJL1	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA	GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CSPG4			https://www.ncbi.nlm.nih.gov/omim/?term=601172	http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4	rs12900539	0.373403	0.4540	0.4758	1	0	0	exonic	exonic	exonic	CSPG4	CSPG4	ENSG00000173546	synonymous SNV	synonymous SNV	unknown	CSPG4:NM_001897:exon3:c.T1899C:p.G633G,	CSPG4:uc002baw.3:exon3:c.T1899C:p.G633G,	UNKNOWN	Het;A>G	1009;30|40	Hom;A>G	2184;1|68
N	N	-	15	76021834	76021834	A	C	snp	ncRNA_exonic	 	 	 	 	DNM1P35																		rs749161	0.607827	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DNM1P35	DNM1P35	ENSG00000246877	Na	Na	Na	Na	Na	Na	Het;A>C	1415;60|55	Hom;A>C	3947;1|138
N	N	-	15	76024222	76024222	C	CCTCT	indel	ncRNA_intronic	 	 	 	 	DNM1P35																		rs34544213	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNM1P35	DNM1P35	ENSG00000246877	Na	Na	Na	Na	Na	Na	Het;+CTCT	346;7|7	Hom;+CTCT	278;0|7
N	N	-	15	76029088	76029088	T	C	snp	ncRNA_intronic	 	 	 	 	DNM1P35																		rs2405898	0.6252	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNM1P35	DNM1P35	ENSG00000246877	Na	Na	Na	Na	Na	Na	Het;T>C	877;38|41	Hom;T>C	2322;0|76
N	N	-	15	76029102	76029102	T	C	snp	ncRNA_intronic	 	 	 	 	DNM1P35																		rs2405897	0.624002	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNM1P35	DNM1P35	ENSG00000246877	Na	Na	Na	Na	Na	Na	Het;T>C	726;47|37	Hom;T>C	2260;0|78
N	N	-	15	76029320	76029320	A	G	snp	ncRNA_intronic	 	 	 	 	DNM1P35																		rs2405895	0.621406	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNM1P35	DNM1P35	ENSG00000246877	Na	Na	Na	Na	Na	Na	Het;A>G	577;46|29	Hom;A>G	2101;0|68
N	N	-	15	76031200	76031200	C	T	snp	ncRNA_intronic	 	 	 	 	DNM1P35																		rs8041626	0.310104	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNM1P35	DNM1P35	ENSG00000260288	Na	Na	Na	Na	Na	Na	Het;C>T	76;6|4	Hom;C>T	173;0|6
N	N	-	15	76050848	76050848	A	G	snp	ncRNA_exonic	 	 	 	 	AC019294.2																		rs2593298	0.614816	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	DNM1P35(dist=18430),MIR4313(dist=3708)	DNM1P35(dist=18430),MIR4313(dist=3708)	ENSG00000260288	Na	Na	Na	Na	Na	Na	Het;A>G	438;21|21	Hom;A>G	1327;0|45
N	N	-	15	76078089	76078089	G	A	snp	upstream;downstream	 	 	 	 	DQ577530																		rs12439425	0.351438	0	0	1	0	0	intergenic	upstream;downstream	ncRNA_intronic	MIR4313(dist=23433),UBE2Q2(dist=57538)	DQ577530,DQ578199;DQ574368	ENSG00000187812	Na	Na	Na	Na	Na	Na	Het;G>A	55;8|4	Hom;G>A	615;0|24
N	N	-	15	77406396	77406396	C	T	snp	UTR3	*102G>A	 	 	 	PEAK1	Peak1	ENSG00000173517	pseudopodium enriched atypical kinase 1	chr15:77400471-77712486	This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]		Mice homozygous for a null allele exhibit reduced angiogenesis in postnatal retina, VEGFA-treated aortas, and transplanted breast cancer cells infected with VEGFA-expressing adenovirus.		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0046777;protein autophosphorylation;IDA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030054;cell junction;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PEAK1			https://www.ncbi.nlm.nih.gov/omim/?term=614248	http://www.informatics.jax.org/searchtool/Search.do?query=PEAK1&submit=Quick%0D%13372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEAK1	rs3743479	0.52496	0	0	1	0	0	UTR3	UTR3	UTR3	PEAK1(NM_024776:c.*102G>A)	PEAK1(uc021sqy.1:c.*102G>A)	ENSG00000173517(ENST00000312493:c.*102G>A,ENST00000560626:c.*102G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	61;2|3	Hom;C>T	156;0|6
N	N	-	15	77818128	77818128	C	A	snp	ncRNA_exonic	 	 	 	 	AC046168.1																		rs1005752	0.530751	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=40182),LINGO1(dist=87238)	AK025664(dist=40182),LINGO1(dist=87241)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;C>A	708;47|34	Hom;C>A	2575;1|93
N	N	-	15	77824646	77824647	CT	C	indel	ncRNA_exonic	 	 	 	 	AC046168.1																		rs61263634	0.334864	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=46700),LINGO1(dist=80719)	AK025664(dist=46700),LINGO1(dist=80722)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;-T	1710;79|53	Hom;-T	4545;0|114
N	N	-	15	77825082	77825082	A	G	snp	ncRNA_exonic	 	 	 	 	AC046168.1																		rs16968893	0.352436	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=47136),LINGO1(dist=80284)	AK025664(dist=47136),LINGO1(dist=80287)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;A>G	1820;98|78	Hom;A>G	4083;1|149
N	N	-	15	77825121	77825121	A	G	snp	ncRNA_exonic	 	 	 	 	AC046168.1																		rs16968895	0.344848	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=47175),LINGO1(dist=80245)	AK025664(dist=47175),LINGO1(dist=80248)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;A>G	1154;64|50	Hom;A>G	2997;0|107
N	N	-	15	77825149	77825149	C	A	snp	ncRNA_exonic	 	 	 	 	AC046168.1																		rs17394448	0.335663	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=47203),LINGO1(dist=80217)	AK025664(dist=47203),LINGO1(dist=80220)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;C>A	945;72|44	Hom;C>A	3153;0|112
N	N	-	15	77825253	77825253	G	A	snp	ncRNA_exonic	 	 	 	 	AC046168.1																		rs74026930	0.344848	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=47307),LINGO1(dist=80113)	AK025664(dist=47307),LINGO1(dist=80116)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;G>A	1696;94|83	Hom;G>A	4783;0|178
N	N	-	15	77825474	77825474	A	C	snp	ncRNA_exonic	 	 	 	 	AC046168.1																		rs74026931	0.350639	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=47528),LINGO1(dist=79892)	AK025664(dist=47528),LINGO1(dist=79895)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;A>C	1191;70|54	Hom;A>C	2987;2|105
N	N	-	15	77825729	77825729	T	C	snp	ncRNA_exonic	 	 	 	 	AC046168.1																		rs74026932	0.344649	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HMG20A(dist=47783),LINGO1(dist=79637)	AK025664(dist=47783),LINGO1(dist=79640)	ENSG00000259362	Na	Na	Na	Na	Na	Na	Het;T>C	1840;72|83	Hom;T>C	2692;0|96
N	N	-	15	78060547	78060547	C	A	snp	intronic	 	 	 	 	LINGO1	Lingo1	ENSG00000169783	leucine rich repeat and Ig domain containing 1	chr15:77905369-78113242		Parkinson's disease ; Waist-Hip Ratio; Essential Tremor; essential tremor; Essential Tremor|; Parkinson disease, essential tremor ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit early-onset CNS myelination.	Axonal growth inhibition (RHOA activation)	GO:0007165;signal transduction;IBA|GO:0007409;axonogenesis;IBA|GO:0050771;negative regulation of axonogenesis;TAS	GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005154;epidermal growth factor receptor binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LINGO1		https://hpo.jax.org/app/browse/search?q=LINGO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609791	http://www.informatics.jax.org/searchtool/Search.do?query=LINGO1&submit=Quick%0D%12566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINGO1	rs6495246	0.742013	0	0	1	0	0	intronic	intergenic	intronic	LINGO1	LINGO1(dist=72072),DQ583793(dist=130931)	ENSG00000169783	Na	Na	Na	Na	Na	Na	Het;C>A	1169;49|55	Hom;C>A	2511;0|89
N	N	-	15	78060595	78060595	T	TA	indel	intronic	 	 	 	 	LINGO1	Lingo1	ENSG00000169783	leucine rich repeat and Ig domain containing 1	chr15:77905369-78113242		Parkinson's disease ; Waist-Hip Ratio; Essential Tremor; essential tremor; Essential Tremor|; Parkinson disease, essential tremor ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit early-onset CNS myelination.	Axonal growth inhibition (RHOA activation)	GO:0007165;signal transduction;IBA|GO:0007409;axonogenesis;IBA|GO:0050771;negative regulation of axonogenesis;TAS	GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005154;epidermal growth factor receptor binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LINGO1		https://hpo.jax.org/app/browse/search?q=LINGO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609791	http://www.informatics.jax.org/searchtool/Search.do?query=LINGO1&submit=Quick%0D%12566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINGO1	rs11372567	0.742013	0	0	1	0	0	intronic	intergenic	intronic	LINGO1	LINGO1(dist=72120),DQ583793(dist=130883)	ENSG00000169783	Na	Na	Na	Na	Na	Na	Het;+A	673;20|21	Hom;+A	745;0|20
N	N	-	15	78060618	78060618	C	CT	indel	intronic	 	 	 	 	LINGO1	Lingo1	ENSG00000169783	leucine rich repeat and Ig domain containing 1	chr15:77905369-78113242		Parkinson's disease ; Waist-Hip Ratio; Essential Tremor; essential tremor; Essential Tremor|; Parkinson disease, essential tremor ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit early-onset CNS myelination.	Axonal growth inhibition (RHOA activation)	GO:0007165;signal transduction;IBA|GO:0007409;axonogenesis;IBA|GO:0050771;negative regulation of axonogenesis;TAS	GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005154;epidermal growth factor receptor binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LINGO1		https://hpo.jax.org/app/browse/search?q=LINGO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609791	http://www.informatics.jax.org/searchtool/Search.do?query=LINGO1&submit=Quick%0D%12566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINGO1	rs11372568	0.742612	0	0	1	0	0	intronic	intergenic	intronic	LINGO1	LINGO1(dist=72143),DQ583793(dist=130860)	ENSG00000169783	Na	Na	Na	Na	Na	Na	Het;+T	389;12|11	Hom;+T	576;0|13
N	N	-	15	78189652	78189652	A	C	snp	ncRNA_exonic	 	 	 	 	CSPG4P13																		rs4243063	0.929313	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINGO1(dist=76410),LOC645752(dist=16907)	LINGO1(dist=201177),DQ583793(dist=1826)	ENSG00000260139	Na	Na	Na	Na	Na	Na	Het;A>C	1536;11|37	Hom;A>C	1491;2|36
N	N	-	15	78189653	78189653	G	A	snp	ncRNA_exonic	 	 	 	 	CSPG4P13																		rs4243064	0.929313	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINGO1(dist=76411),LOC645752(dist=16906)	LINGO1(dist=201178),DQ583793(dist=1825)	ENSG00000260139	Na	Na	Na	Na	Na	Na	Het;G>A	1536;11|39	Hom;G>A	1491;2|36
N	N	-	15	78208880	78208880	G	A	snp	nonsynonymous SNV	C853T	P285S	hydrophobic,neutral	polar,hydrophilic,neutral	LOC645752																		rs7182575	0.708267	0	0.7844	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC645752	LOC645752	ENSG00000260776,ENSG00000261244	Na	nonsynonymous SNV	Na	Na	LOC645752:uc010bky.2:exon14:c.C853T:p.P285S,	Na	Het;G>A	4920;47|205	Hom;G>A	4894;1|176
N	N	-	15	78268716	78268716	G	A	snp	ncRNA_intronic	 	 	 	 	ADAMTS7P3																		rs11072706	0.302516	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC645752(dist=49528),LOC91450(dist=16859)	LOC645752(dist=49528),LOC91450(dist=16859)	ENSG00000261143	Na	Na	Na	Na	Na	Na	Het;G>A	58;3|3	Hom;G>A	248;0|8
N	N	-	15	78277602	78277602	C	T	snp	ncRNA_exonic	 	 	 	 	ADAMTS7P3																		rs11630564	0.484225	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC645752(dist=58414),LOC91450(dist=7973)	LOC645752(dist=58414),LOC91450(dist=7973)	ENSG00000261143	Na	Na	Na	Na	Na	Na	Het;C>T	564;50|31	Hom;C>T	1694;0|60
N	N	-	15	78278331	78278331	A	G	snp	ncRNA_exonic	 	 	 	 	ADAMTS7P3																		rs10851899	0.786741	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC645752(dist=59143),LOC91450(dist=7244)	LOC645752(dist=59143),LOC91450(dist=7244)	ENSG00000261143	Na	Na	Na	Na	Na	Na	Het;A>G	1787;95|80	Hom;A>G	6610;0|150
N	N	-	15	78279286	78279286	C	T	snp	ncRNA_exonic	 	 	 	 	ADAMTS7P3																		rs11633290	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC645752(dist=60098),LOC91450(dist=6289)	LOC645752(dist=60098),LOC91450(dist=6289)	ENSG00000261143	Na	Na	Na	Na	Na	Na	Het;C>T	1495;84|70	Hom;C>T	2805;13|114
N	N	-	15	78337225	78337225	G	A	snp	intronic	 	 	 	 	TBC1D2B	Tbc1d2b	ENSG00000167202	TBC1 domain family member 2B	chr15:78276378-78370066		Tobacco Use Disorder	 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA	GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D2B				http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D2B&submit=Quick%0D%11973ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D2B	rs4886995	0.304113	0.2290	0.3779	1	0	0	intronic	intronic	intronic	TBC1D2B	TBC1D2B	ENSG00000167202	Na	Na	Na	Na	Na	Na	Het;G>A	717;14|31	Hom;G>A	1266;0|48
N	N	-	15	79030830	79030830	C	T	snp	upstream	 	 	 	 	DQ586415																		rs12906165	0.35603	0	0	1	0	0	intergenic	upstream	intergenic	CHRNB4(dist=97243),LOC646938(dist=13549)	DQ586415	ENSG00000261303(dist=2993),ENSG00000238166(dist=13619)	Na	Na	Na	Na	Na	Na	Het;C>T	334;2|10	Hom;C>T	563;0|15
N	N	-	15	79030838	79030838	A	G	snp	upstream	 	 	 	 	DQ586415																		rs12906022	0.355831	0	0	1	0	0	intergenic	upstream	intergenic	CHRNB4(dist=97251),LOC646938(dist=13541)	DQ586415	ENSG00000261303(dist=3001),ENSG00000238166(dist=13611)	Na	Na	Na	Na	Na	Na	Het;A>G	260;1|7	Hom;A>G	456;0|11
N	N	-	15	79030876	79030876	C	G	snp	upstream	 	 	 	 	DQ586415																		rs77786718	0.353235	0	0	1	0	0	intergenic	upstream	intergenic	CHRNB4(dist=97289),LOC646938(dist=13503)	DQ586415	ENSG00000261303(dist=3039),ENSG00000238166(dist=13573)	Na	Na	Na	Na	Na	Na	Het;C>G	137;1|4	Hom;C>G	377;0|9
N	N	-	15	79030877	79030877	C	G	snp	upstream	 	 	 	 	DQ586415																		rs77097561	0.353235	0	0	1	0	0	intergenic	upstream	intergenic	CHRNB4(dist=97290),LOC646938(dist=13502)	DQ586415	ENSG00000261303(dist=3040),ENSG00000238166(dist=13572)	Na	Na	Na	Na	Na	Na	Het;C>G	137;1|4	Hom;C>G	377;0|9
N	N	-	15	79030881	79030881	G	A	snp	upstream	 	 	 	 	DQ586415																		rs71402965	0.353235	0	0	1	0	0	intergenic	upstream	intergenic	CHRNB4(dist=97294),LOC646938(dist=13498)	DQ586415	ENSG00000261303(dist=3044),ENSG00000238166(dist=13568)	Na	Na	Na	Na	Na	Na	Het;G>A	137;1|3	Hom;G>A	377;0|9
N	N	-	15	79065716	79065716	T	C	snp	intronic	 	 	 	 	ADAMTS7	Adamts7	ENSG00000136378	ADAM metallopeptidase with thrombospondin type 1 motif 7	chr15:79051545-79103773	The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]	Coronary Artery Disease; Macular Degeneration; Cardiovascular Diseases; atherosclerosis|myocardial infarction	Homozygotes for a null allele show increased lung function parameters, reduced endothelial cell migration and proliferation, increased re-endothelialization and ameliorated neointima formation after carotid artery injury, and increased oval cell activation and biliary fibrosis after liver injury.	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0036066;protein O-linked fucosylation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IMP|GO:0071347;cellular response to interleukin-1;IMP|GO:0071356;cellular response to tumor necrosis factor;IMP|GO:0071773;cellular response to BMP stimulus;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS7	https://www.uniprot.org/uniprot/Q9UKP4		https://www.ncbi.nlm.nih.gov/omim/?term=605009	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS7&submit=Quick%0D%7336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS7	rs8041841	0	0	0	1	0	0	intronic	intronic	intronic	ADAMTS7	ADAMTS7	ENSG00000136378	Na	Na	Na	Na	Na	Na	Het;T>C	282;1|8	Hom;T>C	148;0|4
N	N	-	15	79129823	79129823	A	G	snp	intronic	 	 	 	 	MORF4L1	Morf4l1	ENSG00000185787	mortality factor 4 like 1	chr15:79102829-79190475		Tobacco Use Disorder; Heart Rate	Homozygous null mice display perinatal lethality, cardiac hypertrophy, reduced alveolar space, decreased cell proliferation, congestion of the liver, lung, and spleen, skin edema, and thin skin.	HATs acetylate histones	GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006325;chromatin organization;IEA|GO:0006338;chromatin remodeling;IBA|GO:0006342;chromatin silencing;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008283;cell proliferation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016580;Sin3 complex;IDA|GO:0016607;nuclear speck;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA	GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MORF4L1			https://www.ncbi.nlm.nih.gov/omim/?term=607303	http://www.informatics.jax.org/searchtool/Search.do?query=MORF4L1&submit=Quick%0D%15488ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MORF4L1	rs8035039	0.682907	0	0	1	0	0	intergenic	intergenic	intronic	ADAMTS7(dist=26050),MORF4L1(dist=35300)	ADAMTS7(dist=26050),TRNA_Lys(dist=23081)	ENSG00000185787	Na	Na	Na	Na	Na	Na	Het;A>G	130;3|6	Hom;A>G	100;0|4
N	N	-	15	79502096	79502096	G	C	snp	ncRNA_intronic	 	 	 	 	LOC729911																		rs12903401	0.391174	0.4034	0.4577	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ANKRD34C-AS1	LOC729911	ENSG00000259234	Na	Na	Na	Na	Na	Na	Het;G>C	114;6|5	Hom;G>C	219;0|10
N	N	-	15	79810767	79810767	C	T	snp	intergenic	 	 	 	 	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs8034501	0.681909	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA1024(dist=46125),MTHFS(dist=325122)	KIAA1024(dist=46125),TRNA_Cys(dist=226230)	ENSG00000169330(dist=46135),ENSG00000259493(dist=40831)	Na	Na	Na	Na	Na	Na	Het;C>T	312;26|18	Hom;C>T	901;0|35
N	N	-	15	79839163	79839163	A	G	snp	intergenic	 	 	 	 	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs1765249	0.638578	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA1024(dist=74521),MTHFS(dist=296726)	KIAA1024(dist=74521),TRNA_Cys(dist=197834)	ENSG00000169330(dist=74531),ENSG00000259493(dist=12435)	Na	Na	Na	Na	Na	Na	Het;A>G	146;2|7	Hom;A>G	192;0|8
N	N	-	15	79848922	79848922	A	C	snp	intergenic	 	 	 	 	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs1765241	0.814297	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA1024(dist=84280),MTHFS(dist=286967)	KIAA1024(dist=84280),TRNA_Cys(dist=188075)	ENSG00000169330(dist=84290),ENSG00000259493(dist=2676)	Na	Na	Na	Na	Na	Na	Het;A>C	532;8|13	Hom;A>C	1007;0|23
N	N	-	15	79848929	79848929	T	C	snp	intergenic	 	 	 	 	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs1765240	0.594649	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA1024(dist=84287),MTHFS(dist=286960)	KIAA1024(dist=84287),TRNA_Cys(dist=188068)	ENSG00000169330(dist=84297),ENSG00000259493(dist=2669)	Na	Na	Na	Na	Na	Na	Het;T>C	529;9|14	Hom;T>C	1032;0|24
N	N	-	15	79849265	79849265	A	G	snp	intergenic	 	 	 	 	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs1765239	0.811102	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA1024(dist=84623),MTHFS(dist=286624)	KIAA1024(dist=84623),TRNA_Cys(dist=187732)	ENSG00000169330(dist=84633),ENSG00000259493(dist=2333)	Na	Na	Na	Na	Na	Na	Het;A>G	80;7|4	Hom;A>G	484;0|18
N	N	-	15	79849410	79849410	T	C	snp	intergenic	 	 	 	 	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs1765238	0.810104	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA1024(dist=84768),MTHFS(dist=286479)	KIAA1024(dist=84768),TRNA_Cys(dist=187587)	ENSG00000169330(dist=84778),ENSG00000259493(dist=2188)	Na	Na	Na	Na	Na	Na	Het;T>C	719;50|39	Hom;T>C	2610;0|93
N	N	-	15	79849637	79849637	T	A	snp	intergenic	 	 	 	 	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs2931546	0.474441	0	0	1	0	0	intergenic	intergenic	intergenic	KIAA1024(dist=84995),MTHFS(dist=286252)	KIAA1024(dist=84995),TRNA_Cys(dist=187360)	ENSG00000169330(dist=85005),ENSG00000259493(dist=1961)	Na	Na	Na	Na	Na	Na	Het;T>A	165;10|8	Hom;T>A	555;0|18
N	N	-	15	79851594	79851594	T	C	snp	downstream	 	 	 	 	AC023968.2																		rs1765252	0.817093	0	0	1	0	0	intergenic	intergenic	downstream	KIAA1024(dist=86952),MTHFS(dist=284295)	KIAA1024(dist=86952),TRNA_Cys(dist=185403)	ENSG00000259493	Na	Na	Na	Na	Na	Na	Het;T>C	484;29|22	Hom;T>C	1340;0|36
N	N	-	15	79852289	79852289	A	G	snp	ncRNA_exonic	 	 	 	 	AC023968.2																		rs1685164	0.789736	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	KIAA1024(dist=87647),MTHFS(dist=283600)	KIAA1024(dist=87647),TRNA_Cys(dist=184708)	ENSG00000259493	Na	Na	Na	Na	Na	Na	Het;A>G	103;5|5	Hom;A>G	578;0|22
N	N	-	15	79960142	79960155	AAATATAATCCCTT	A	indel	downstream	 	 	 	 	AC023968.1																		rs566393277	0.043131	0	0	1	0	0	intergenic	intergenic	downstream	KIAA1024(dist=195500),MTHFS(dist=175734)	KIAA1024(dist=195500),TRNA_Cys(dist=76842)	ENSG00000259208	Na	Na	Na	Na	Na	Na	Het;-AATATAATCCCTT	35;4|2	Hom;-AATATAATCCCTT	233;0|6
N	N	-	15	80259955	80259959	TGTAA	T	indel	intronic	 	 	 	 	BCL2A1	Bcl2a1d	ENSG00000140379	BCL2 related protein A1	chr15:80253231-80263788	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition.		GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1	https://www.uniprot.org/uniprot/Q16548		https://www.ncbi.nlm.nih.gov/omim/?term=601056	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1	rs146807490	0.205272	0.1972	0.2303	1	0	0	intronic	intronic	intronic	BCL2A1	BCL2A1	ENSG00000140379	Na	Na	Na	Na	Na	Na	Het;-GTAA	2011;85|55	Hom;-GTAA	3993;0|90
N	N	-	15	80259964	80259964	C	T	snp	intronic	 	 	 	 	BCL2A1	Bcl2a1d	ENSG00000140379	BCL2 related protein A1	chr15:80253231-80263788	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition.		GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1	https://www.uniprot.org/uniprot/Q16548		https://www.ncbi.nlm.nih.gov/omim/?term=601056	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1	rs16971619	0.354433	0.2079	0.2975	1	0	0	intronic	intronic	intronic	BCL2A1	BCL2A1	ENSG00000140379	Na	Na	Na	Na	Na	Na	Het;C>T	1990;97|55	Hom;C>T	4083;0|92
N	N	-	15	80260014	80260014	T	C	snp	synonymous SNV	A441G	T147T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	BCL2A1	Bcl2a1d	ENSG00000140379	BCL2 related protein A1	chr15:80253231-80263788	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition.		GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1	https://www.uniprot.org/uniprot/Q16548		https://www.ncbi.nlm.nih.gov/omim/?term=601056	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1	rs8026803	0.389377	0.2901	0.3141	1	0	0	exonic	exonic	exonic	BCL2A1	BCL2A1	ENSG00000140379	synonymous SNV	synonymous SNV	unknown	BCL2A1:NM_001114735:exon2:c.A441G:p.T147T,	BCL2A1:uc002bfd.4:exon2:c.A441G:p.T147T,	UNKNOWN	Het;T>C	1194;102|68	Hom;T>C	2999;0|115
N	N	-	15	80263217	80263217	C	T	snp	nonsynonymous SNV	G245A	G82D	aliphatic,neutral	polar,hydrophilic,charged(-)	BCL2A1	Bcl2a1d	ENSG00000140379	BCL2 related protein A1	chr15:80253231-80263788	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition.		GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1	https://www.uniprot.org/uniprot/Q16548		https://www.ncbi.nlm.nih.gov/omim/?term=601056	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1	rs3826007	0.203474	0.1993	0.2344	0.69	9	13	exonic	exonic	exonic	BCL2A1	BCL2A1	ENSG00000140379	nonsynonymous SNV	nonsynonymous SNV	unknown	BCL2A1:NM_004049:exon1:c.G245A:p.G82D,BCL2A1:NM_001114735:exon1:c.G245A:p.G82D,	BCL2A1:uc002bfc.4:exon1:c.G245A:p.G82D,BCL2A1:uc002bfd.4:exon1:c.G245A:p.G82D,	UNKNOWN	Het;C>T	1489;75|71	Hom;C>T	3106;0|115
N	N	-	15	80263345	80263345	A	C	snp	nonsynonymous SNV	T117G	N39K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	BCL2A1	Bcl2a1d	ENSG00000140379	BCL2 related protein A1	chr15:80253231-80263788	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition.		GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1	https://www.uniprot.org/uniprot/Q16548		https://www.ncbi.nlm.nih.gov/omim/?term=601056	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1	rs1138358	0.458866	0.3629	0.3366	0.08	1	13	exonic	exonic	exonic	BCL2A1	BCL2A1	ENSG00000140379	nonsynonymous SNV	nonsynonymous SNV	unknown	BCL2A1:NM_004049:exon1:c.T117G:p.N39K,BCL2A1:NM_001114735:exon1:c.T117G:p.N39K,	BCL2A1:uc002bfc.4:exon1:c.T117G:p.N39K,BCL2A1:uc002bfd.4:exon1:c.T117G:p.N39K,	UNKNOWN	Het;A>C	628;33|28	Hom;A>C	2348;0|80
N	N	-	15	80263406	80263406	C	T	snp	nonsynonymous SNV	G56A	C19Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	BCL2A1	Bcl2a1d	ENSG00000140379	BCL2 related protein A1	chr15:80253231-80263788	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition.		GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1	https://www.uniprot.org/uniprot/Q16548		https://www.ncbi.nlm.nih.gov/omim/?term=601056	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1	rs1138357	0.352037	0.2517	0.3033	0.08	1	13	exonic	exonic	exonic	BCL2A1	BCL2A1	ENSG00000140379	nonsynonymous SNV	nonsynonymous SNV	unknown	BCL2A1:NM_004049:exon1:c.G56A:p.C19Y,BCL2A1:NM_001114735:exon1:c.G56A:p.C19Y,	BCL2A1:uc002bfc.4:exon1:c.G56A:p.C19Y,BCL2A1:uc002bfd.4:exon1:c.G56A:p.C19Y,	UNKNOWN	Het;C>T	618;33|34	Hom;C>T	1746;0|64
N	N	-	15	80412579	80412579	C	T	snp	intronic	 	 	 	 	ZFAND6	Zfand6	ENSG00000086666	zinc finger AN1-type containing 6	chr15:80351910-80430735		Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; Tobacco Use Disorder; Diabetes Mellitus, Type 2	 		GO:0006625;protein targeting to peroxisome;IEA|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071356;cellular response to tumor necrosis factor;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031593;polyubiquitin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAND6	https://www.uniprot.org/uniprot/Q6FIF0		https://www.ncbi.nlm.nih.gov/omim/?term=610183	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAND6&submit=Quick%0D%1933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAND6	rs1916048	0.729233	0	0	1	0	0	intronic	intronic	intronic	ZFAND6	ZFAND6	ENSG00000086666	Na	Na	Na	Na	Na	Na	Het;C>T	144;9|7	Hom;C>T	453;0|15
N	N	-	15	80413935	80413935	C	T	snp	intronic	 	 	 	 	ZFAND6	Zfand6	ENSG00000086666	zinc finger AN1-type containing 6	chr15:80351910-80430735		Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; Tobacco Use Disorder; Diabetes Mellitus, Type 2	 		GO:0006625;protein targeting to peroxisome;IEA|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071356;cellular response to tumor necrosis factor;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031593;polyubiquitin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAND6	https://www.uniprot.org/uniprot/Q6FIF0		https://www.ncbi.nlm.nih.gov/omim/?term=610183	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAND6&submit=Quick%0D%1933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAND6	rs934003	0.558307	0	0	1	0	0	intronic	intronic	intronic	ZFAND6	ZFAND6	ENSG00000086666	Na	Na	Na	Na	Na	Na	Het;C>T	121;6|6	Hom;C>T	278;0|11
N	N	-	15	80414173	80414173	C	G	snp	intronic	 	 	 	 	ZFAND6	Zfand6	ENSG00000086666	zinc finger AN1-type containing 6	chr15:80351910-80430735		Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; Tobacco Use Disorder; Diabetes Mellitus, Type 2	 		GO:0006625;protein targeting to peroxisome;IEA|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071356;cellular response to tumor necrosis factor;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031593;polyubiquitin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAND6	https://www.uniprot.org/uniprot/Q6FIF0		https://www.ncbi.nlm.nih.gov/omim/?term=610183	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAND6&submit=Quick%0D%1933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAND6	rs1522636	0.66254	0.6899	0.7331	1	0	0	intronic	intronic	intronic	ZFAND6	ZFAND6	ENSG00000086666	Na	Na	Na	Na	Na	Na	Het;C>G	829;26|37	Hom;C>G	1780;0|61
N	N	-	15	80762526	80762527	TC	T	indel	intronic	 	 	 	 	ARNT2	Arnt2	ENSG00000172379	aryl hydrocarbon receptor nuclear translocator 2	chr15:80696692-80890278	This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]	Bipolar Disorder; Electrocardiography; Cleft Lip|Cleft Palate; Myocardial Infarction; Heart Failure; Autism	Mice homozygous for targeted mutations that inactivate this gene die shortly after birth, displaying impaired development of secretory neurons in the hypothalamus.	Aryl hydrocarbon receptor signalling	GO:0001666;response to hypoxia;IDA|GO:0001701;in utero embryonic development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IMP|GO:0008284;positive regulation of cell proliferation;IEA|GO:0032355;response to estradiol;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARNT2		https://hpo.jax.org/app/browse/search?q=ARNT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606036	http://www.informatics.jax.org/searchtool/Search.do?query=ARNT2&submit=Quick%0D%13149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARNT2	rs398028106	0.825879	0	0.7918	1	0	0	intronic	intronic	intronic	ARNT2	ARNT2	ENSG00000172379	Na	Na	Na	Na	Na	Na	Het;-C	896;38|37	Hom;-C	1690;0|54
N	N	-	15	81479213	81479213	A	G	snp	intronic	 	 	 	 	IL16	Il16	ENSG00000172349	interleukin 16	chr15:81451916-81605104	The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]	Biliary Tract Neoplasms|Inflammation; Neoplasms; longevity; Lymphoma, Large B-Cell, Diffuse; inattentive symptoms; periodontitis; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Papillary|Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; Crohn's disease; respiratory syncytial virus bronchiolitis; Endometriosis|Pain; Celiac Disease|; lung cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Colorectal Neoplasms|Stomach Neoplasms; Attention Deficit Disorder with Hyperactivity; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Lupus Erythematosus, Systemic; Graves Disease; asthma; hepatitis C; lung cancer ; dermatitis and eczema; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy; Nasopharyngeal Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lymphoma, Non-Hodgkin	Mice homozygous for a knock-out allele display a transient but consistent increase of thymidine incorporation in anti-CD3-stimulated CD4+ T cells, but fail to show a hyperproliferative T cell phenotype using BrdU labeling.	Other interleukin signaling	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;TAS|GO:0016032;viral process;IEA|GO:0030595;leukocyte chemotaxis;IEA|GO:0050930;induction of positive chemotaxis;IEA|GO:0051924;regulation of calcium ion transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0005125;cytokine activity;IEA|GO:0042609;CD4 receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL16			https://www.ncbi.nlm.nih.gov/omim/?term=603035	http://www.informatics.jax.org/searchtool/Search.do?query=IL16&submit=Quick%0D%13138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL16	rs2063309	0.483626	0	0	1	0	0	intergenic	intronic	intronic	C15orf26(dist=37697),IL16(dist=10006)	IL16	ENSG00000172349	Na	Na	Na	Na	Na	Na	Het;A>G	112;3|5	Hom;A>G	225;0|8
N	N	-	15	81610902	81610902	T	C	snp	intronic	 	 	 	 	STARD5	Stard5	ENSG00000172345	StAR related lipid transfer domain containing 5	chr15:81601394-81616524	Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit abnormal vertebral transverse process morphology.	Recycling of bile acids and salts	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015721;bile acid and bile salt transport;TAS|GO:0070508;cholesterol import;IDA	GO:0005739;mitochondrion;IBA|GO:0005829;cytosol;TAS	GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0032052;bile acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STARD5			https://www.ncbi.nlm.nih.gov/omim/?term=607050	http://www.informatics.jax.org/searchtool/Search.do?query=STARD5&submit=Quick%0D%13135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD5	rs4617815	0.397364	0	0	1	0	0	intronic	intronic	intronic	STARD5	STARD5	ENSG00000172345	Na	Na	Na	Na	Na	Na	Het;T>C	150;10|8	Hom;T>C	469;0|15
N	N	-	15	81628832	81628832	C	A	snp	ncRNA_intronic	 	 	 	 	TMC3-AS1																		rs34480099	0.242812	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TMC3-AS1	TMC3	ENSG00000259343	Na	Na	Na	Na	Na	Na	Het;C>A	251;9|10	Hom;C>A	498;1|16
N	N	-	15	81631900	81631900	G	T	snp	ncRNA_intronic	 	 	 	 	TMC3-AS1																		rs34384568	0.242812	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TMC3-AS1	TMC3	ENSG00000259343	Na	Na	Na	Na	Na	Na	Het;G>T	588;18|26	Hom;G>T	1018;0|36
N	N	-	15	81638646	81638646	G	A	snp	ncRNA_intronic	 	 	 	 	TMC3-AS1																		rs35379895	0.274161	0.1465	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TMC3-AS1	TMC3	ENSG00000259343	Na	Na	Na	Na	Na	Na	Het;G>A	395;13|19	Hom;G>A	572;0|22
N	N	-	15	81654757	81654757	T	TG	indel	ncRNA_intronic	 	 	 	 	TMC3-AS1																		rs397717230	0.570687	0	0	1	0	0	ncRNA_intronic	intronic	intronic	TMC3-AS1	TMC3	ENSG00000188869	Na	Na	Na	Na	Na	Na	Het;+G	80;7|4	Hom;+G	674;0|19
N	N	-	15	81835460	81835461	AT	A	indel	ncRNA_intronic	 	 	 	 	AC060809.1																		rs35056343	0.697284	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TMC3-AS1(dist=100043),MEX3B(dist=498658)	TMC3(dist=169042),MEX3B(dist=498658)	ENSG00000259543	Na	Na	Na	Na	Na	Na	Het;-T	1333;42|40	Hom;-T	3039;2|78
N	N	-	15	82387776	82387776	T	C	snp	ncRNA_intronic	 	 	 	 	BC043257																		rs1532750	0.432109	0	0.3776	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	LINC01583	BC043257	ENSG00000259518	Na	Na	Na	Na	Na	Na	Het;T>C	174;1|8	Hom;T>C	1098;0|31
N	N	-	15	83215251	83215251	T	C	snp	synonymous SNV	A837G	L279L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CPEB1	Cpeb1	ENSG00000277445	cytoplasmic polyadenylation element binding protein 1	chr15:83211951-83317612	This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	leukemia; Leukemia, Lymphocytic, Chronic, B-Cell; Chronic lymphocytic leukemia	Mice homozygous for a null allele are viable and overtly normal but display a developmental arrest of both female and male germ cells at the pachytene stage, defective synaptonemal complex formation, and impaired neuronal synaptic plasticity.		GO:0006397;mRNA processing;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0071230;cellular response to amino acid stimulus;ISS|GO:0071456;cellular response to hypoxia;IDA|GO:2000766;negative regulation of cytoplasmic translation;IMP	GO:0000932;P-body;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IBA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1990124;messenger ribonucleoprotein complex;IBA	GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IBA|GO:0008135;translation factor activity, RNA binding;IBA|GO:0035925;mRNA 3'-UTR AU-rich region binding;ISS|GO:0043022;ribosome binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPEB1			https://www.ncbi.nlm.nih.gov/omim/?term=607342	http://www.informatics.jax.org/searchtool/Search.do?query=CPEB1&submit=Quick%0D%21837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB1	rs1267657	0.441494	0.3852	0.3991	1	0	0	exonic	exonic	exonic	CPEB1	CPEB1	ENSG00000214575,ENSG00000260836	synonymous SNV	synonymous SNV	unknown	CPEB1:NM_001079534:exon10:c.A1290G:p.L430L,CPEB1:NM_001079533:exon10:c.A1305G:p.L435L,CPEB1:NM_001288820:exon9:c.A837G:p.L279L,CPEB1:NM_001079535:exon9:c.A1290G:p.L430L,CPEB1:NM_001288819:exon11:c.A1290G:p.L430L,CPEB1:NM_030594:exon11:c.A1515G:p.L505L,	CPEB1:uc010uod.2:exon9:c.A837G:p.L279L,CPEB1:uc010uof.2:exon11:c.A1290G:p.L430L,CPEB1:uc002bip.3:exon7:c.A837G:p.L279L,CPEB1:uc002biq.3:exon10:c.A1290G:p.L430L,CPEB1:uc010uoe.2:exon10:c.A1524G:p.L508L,CPEB1:uc002bis.3:exon9:c.A1290G:p.L430L,CPEB1:uc002biv.3:exon11:c.A1515G:p.L505L,CPEB1:uc002bir.3:exon10:c.A1305G:p.L435L,CPEB1:uc002bit.3:exon11:c.A1710G:p.L570L,CPEB1:uc002biu.3:exon11:c.A1596G:p.L532L,	UNKNOWN	Het;T>C	945;48|49	Hom;T>C	2264;0|87
N	N	-	15	84116490	84116490	C	A	snp	intronic	 	 	 	 	SH3GL3	Sh3gl3	ENSG00000140600	SH3 domain containing GRB2 like 3, endophilin A3	chr15:84115980-84287495		Height; height	Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling.	InlB-mediated entry of Listeria monocytogenes into host cell	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0016020;membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SH3GL3	https://www.uniprot.org/uniprot/Q99963		https://www.ncbi.nlm.nih.gov/omim/?term=603362	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GL3&submit=Quick%0D%8059ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GL3	rs62027509	0.14976	0	0	1	0	0	intronic	intronic	intronic	SH3GL3	SH3GL3	ENSG00000140600	Na	Na	Na	Na	Na	Na	Het;C>A	66;2|3	Hom;C>A	71;0|4
N	N	-	15	84488636	84488636	A	G	snp	nonsynonymous SNV	A437G	H146R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs4483821	0.679313	0.5625	0.5401	0.15	2	13	exonic	exonic	exonic	ADAMTSL3	ADAMTSL3	ENSG00000156218	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTSL3:NM_001301110:exon6:c.A437G:p.H146R,ADAMTSL3:NM_207517:exon6:c.A437G:p.H146R,	ADAMTSL3:uc002bjz.4:exon6:c.A437G:p.H146R,ADAMTSL3:uc002bjy.1:exon6:c.A437G:p.H146R,ADAMTSL3:uc010bmt.1:exon6:c.A437G:p.H146R,	UNKNOWN	Het;A>G	693;19|31	Hom;A>G	1900;0|69
N	N	-	15	84539619	84539619	C	G	snp	nonsynonymous SNV	C868G	L290V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs4144691	0.807508	0.8483	0.8061	0.08	1	13	exonic	exonic	exonic	ADAMTSL3	ADAMTSL3	ENSG00000156218	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTSL3:NM_001301110:exon9:c.C868G:p.L290V,ADAMTSL3:NM_207517:exon9:c.C868G:p.L290V,	ADAMTSL3:uc002bjz.4:exon9:c.C868G:p.L290V,ADAMTSL3:uc010bmt.1:exon9:c.C868G:p.L290V,	UNKNOWN	Het;C>G	1234;66|58	Hom;C>G	3128;0|121
N	N	-	15	84554018	84554018	G	C	snp	intronic	 	 	 	 	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs8028931	0.804912	0	0	1	0	0	intronic	intronic	intronic	ADAMTSL3	ADAMTSL3	ENSG00000156218	Na	Na	Na	Na	Na	Na	Het;G>C	301;31|17	Hom;G>C	1490;0|50
N	N	-	15	84568504	84568504	A	G	snp	intronic	 	 	 	 	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs6603004	0.686901	0.6184	0.6128	1	0	0	intronic	intronic	intronic	ADAMTSL3	ADAMTSL3	ENSG00000156218	Na	Na	Na	Na	Na	Na	Het;A>G	621;37|31	Hom;A>G	2380;0|86
N	N	-	15	84581904	84581904	T	C	snp	synonymous SNV	T1761C	R587R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs4842923	0.686102	0.6183	0.5991	1	0	0	exonic	exonic	exonic	ADAMTSL3	ADAMTSL3	ENSG00000156218	synonymous SNV	synonymous SNV	unknown	ADAMTSL3:NM_001301110:exon16:c.T1761C:p.R587R,ADAMTSL3:NM_207517:exon16:c.T1761C:p.R587R,	ADAMTSL3:uc002bjz.4:exon16:c.T1761C:p.R587R,ADAMTSL3:uc010bmt.1:exon16:c.T1761C:p.R587R,	UNKNOWN	Het;T>C	2837;96|82	Hom;T>C	5611;0|164
N	N	-	15	84582124	84582124	G	T	snp	nonsynonymous SNV	G1981T	V661L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs4842838	0.685703	0.6182	0.5990	0.08	1	13	exonic	exonic	exonic	ADAMTSL3	ADAMTSL3	ENSG00000156218	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTSL3:NM_001301110:exon16:c.G1981T:p.V661L,ADAMTSL3:NM_207517:exon16:c.G1981T:p.V661L,	ADAMTSL3:uc002bjz.4:exon16:c.G1981T:p.V661L,ADAMTSL3:uc010bmt.1:exon16:c.G1981T:p.V661L,	UNKNOWN	Het;G>T	2016;117|101	Hom;G>T	4238;2|159
N	N	-	15	85607563	85607563	G	A	snp	UTR5	-49071G>A	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs11073916	0.225639	0.1362	0.1680	1	0	0	intronic	UTR5	intronic	PDE8A	PDE8A(uc002blk.3:c.-49071G>A)	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;G>A	816;78|42	Hom;G>A	3060;0|118
N	N	-	15	85607670	85607670	G	T	snp	intronic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs11073917	0.217452	0.1298	0.1647	1	0	0	intronic	intronic	intronic	PDE8A	PDE8A	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;G>T	1375;88|70	Hom;G>T	4416;0|171
N	N	-	15	85652479	85652479	C	G	snp	intronic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs2304419	0.193291	0	0	1	0	0	intronic	intronic	intronic	PDE8A	PDE8A	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;C>G	71;6|3	Hom;C>G	276;0|7
N	N	-	15	85652486	85652486	G	C	snp	intronic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs2304420	0.237021	0	0	1	0	0	intronic	intronic	intronic	PDE8A	PDE8A	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;G>C	38;6|2	Hom;G>C	242;0|6
N	N	-	15	85656568	85656568	A	G	snp	intronic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs2304422	0.544529	0.5656	0.4836	1	0	0	intronic	intronic	intronic	PDE8A	PDE8A	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;A>G	582;36|31	Hom;A>G	1587;0|59
N	N	-	15	85659479	85659479	A	G	snp	intronic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs11073951	0.540735	0	0	1	0	0	intronic	intronic	intronic	PDE8A	PDE8A	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;A>G	65;7|3	Hom;A>G	505;0|14
N	N	-	15	85679984	85679984	G	A	snp	intronic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs11073962	0.238019	0	0	1	0	0	intronic	intronic	intronic	PDE8A	PDE8A	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;G>A	558;16|26	Hom;G>A	1234;0|47
N	N	-	15	85680021	85680021	G	A	snp	intronic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs12592211	0.163339	0	0	1	0	0	intronic	intronic	intronic	PDE8A	PDE8A	ENSG00000073417	Na	Na	Na	Na	Na	Na	Het;G>A	382;7|15	Hom;G>A	642;0|23
N	N	-	15	85720262	85720262	T	C	snp	intergenic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs6496788	0.39996	0	0	1	0	0	intergenic	intergenic	intergenic	PDE8A(dist=37886),LOC642423(dist=27645)	PDE8A(dist=37886),DQ596274(dist=27044)	ENSG00000073417(dist=37886),ENSG00000259270(dist=1597)	Na	Na	Na	Na	Na	Na	Het;T>C	331;6|13	Hom;T>C	509;0|15
N	N	-	15	85720564	85720564	C	CAGAGAA	indel	intergenic	 	 	 	 	PDE8A	Pde8a	ENSG00000073417	phosphodiesterase 8A	chr15:85523671-85682376	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction	Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.	G alpha (s) signalling events	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8A	https://www.uniprot.org/uniprot/O60658		https://www.ncbi.nlm.nih.gov/omim/?term=602972	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A	rs111282886	0.137181	0	0	1	0	0	intergenic	intergenic	intergenic	PDE8A(dist=38188),LOC642423(dist=27343)	PDE8A(dist=38188),DQ596274(dist=26742)	ENSG00000073417(dist=38188),ENSG00000259270(dist=1295)	Na	Na	Na	Na	Na	Na	Het;+AGAGAA	190;18|7	Hom;+AGAGAA	323;0|8
N	N	-	15	85721657	85721657	G	A	snp	downstream	 	 	 	 	AC044860.2																		rs8029896	0.400559	0	0	1	0	0	intergenic	intergenic	downstream	PDE8A(dist=39281),LOC642423(dist=26250)	PDE8A(dist=39281),DQ596274(dist=25649)	ENSG00000259270	Na	Na	Na	Na	Na	Na	Het;G>A	92;3|4	Hom;G>A	614;0|20
N	N	-	15	85721926	85721926	G	A	snp	ncRNA_exonic	 	 	 	 	AC044860.2																		rs8030425	0.400559	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PDE8A(dist=39550),LOC642423(dist=25981)	PDE8A(dist=39550),DQ596274(dist=25380)	ENSG00000259270	Na	Na	Na	Na	Na	Na	Het;G>A	1162;40|54	Hom;G>A	2198;0|78
N	N	-	15	85793643	85793643	A	G	snp	intergenic	 	 	 	 	GOLGA6L3																		rs199616597	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC642423(dist=45125),MIR7706(dist=130184)	AK301968(dist=3233),AKAP13(dist=130204)	ENSG00000188388(dist=3233),ENSG00000218052(dist=4957)	Na	Na	Na	Na	Na	Na	Het;A>G	101;17|7	Hom;A>G	514;0|21
N	N	-	15	85794998	85794998	G	A	snp	intergenic	 	 	 	 	GOLGA6L3																		rs76104135	0.373403	0	0	1	0	0	intergenic	intergenic	intergenic	LOC642423(dist=46480),MIR7706(dist=128829)	AK301968(dist=4588),AKAP13(dist=128849)	ENSG00000188388(dist=4588),ENSG00000218052(dist=3602)	Na	Na	Na	Na	Na	Na	Het;G>A	183;20|11	Hom;G>A	516;0|19
N	N	-	15	85796293	85796293	C	T	snp	intergenic	 	 	 	 	GOLGA6L3																		rs7178135	0.484026	0	0	1	0	0	intergenic	intergenic	intergenic	LOC642423(dist=47775),MIR7706(dist=127534)	AK301968(dist=5883),AKAP13(dist=127554)	ENSG00000188388(dist=5883),ENSG00000218052(dist=2307)	Na	Na	Na	Na	Na	Na	Het;C>T	697;23|30	Hom;C>T	1129;0|42
N	N	-	15	85798994	85798994	G	T	snp	ncRNA_intronic	 	 	 	 	ADAMTS7P4																		rs11854802	0.489417	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC642423(dist=50476),MIR7706(dist=124833)	AK301968(dist=8584),AKAP13(dist=124853)	ENSG00000218052	Na	Na	Na	Na	Na	Na	Het;G>T	696;71|39	Hom;G>T	2906;0|102
N	N	-	15	85805243	85805243	T	C	snp	ncRNA_exonic	 	 	 	 	ADAMTS7P4																		rs58677120	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC642423(dist=56725),MIR7706(dist=118584)	AK301968(dist=14833),AKAP13(dist=118604)	ENSG00000218052	Na	Na	Na	Na	Na	Na	Het;T>C	2621;107|97	Hom;T>C	3459;1|101
N	N	-	15	85806810	85806810	G	A	snp	ncRNA_exonic	 	 	 	 	ADAMTS7P4																		rs62021386	0.583666	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC642423(dist=58292),MIR7706(dist=117017)	AK301968(dist=16400),AKAP13(dist=117037)	ENSG00000218052	Na	Na	Na	Na	Na	Na	Het;G>A	3626;163|174	Hom;G>A	9341;3|357
N	N	-	15	85816754	85816757	ATCT	A	indel	ncRNA_intronic	 	 	 	 	ADAMTS7P4																		rs3029847	0.53774	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC642423(dist=68236),MIR7706(dist=107070)	AK301968(dist=26344),AKAP13(dist=107090)	ENSG00000218052	Na	Na	Na	Na	Na	Na	Het;-TCT	501;10|14	Hom;-TCT	1269;0|29
N	N	-	15	85840329	85840329	T	C	snp	ncRNA_intronic	 	 	 	 	ADAMTS7P4																		rs16941991	0.450679	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC642423(dist=91811),MIR7706(dist=83498)	AK301968(dist=49919),AKAP13(dist=83518)	ENSG00000218052	Na	Na	Na	Na	Na	Na	Het;T>C	195;4|8	Hom;T>C	281;0|10
N	N	-	15	86122654	86122654	T	C	snp	nonsynonymous SNV	T1355C	M452T	hydrophobic,neutral	polar,hydrophilic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs2061821	0.583067	0.6271	0.6107	0.17	2	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.T1355C:p.M452T,AKAP13:NM_006738:exon7:c.T1355C:p.M452T,	AKAP13:uc002blu.2:exon7:c.T1355C:p.M452T,AKAP13:uc002blt.2:exon7:c.T1355C:p.M452T,AKAP13:uc002blv.2:exon7:c.T1355C:p.M452T,	UNKNOWN	Het;T>C	1040;72|49	Hom;T>C	3324;0|122
N	N	-	15	86122779	86122779	T	C	snp	nonsynonymous SNV	T1480C	W494R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs2061822	0.596246	0.6491	0.6322	0.08	1	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.T1480C:p.W494R,AKAP13:NM_006738:exon7:c.T1480C:p.W494R,	AKAP13:uc002blu.2:exon7:c.T1480C:p.W494R,AKAP13:uc002blt.2:exon7:c.T1480C:p.W494R,AKAP13:uc002blv.2:exon7:c.T1480C:p.W494R,	UNKNOWN	Het;T>C	1850;64|84	Hom;T>C	3032;0|109
N	N	-	15	86122916	86122916	T	C	snp	synonymous SNV	T1617C	A539A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs2061823	0.583267	0.6264	0.6105	1	0	0	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	synonymous SNV	synonymous SNV	unknown	AKAP13:NM_007200:exon7:c.T1617C:p.A539A,AKAP13:NM_006738:exon7:c.T1617C:p.A539A,	AKAP13:uc002blu.2:exon7:c.T1617C:p.A539A,AKAP13:uc002blt.2:exon7:c.T1617C:p.A539A,AKAP13:uc002blv.2:exon7:c.T1617C:p.A539A,	UNKNOWN	Het;T>C	770;49|40	Hom;T>C	2648;0|96
N	N	-	15	86123019	86123019	C	T	snp	nonsynonymous SNV	C1720T	R574C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs2061824	0.583067	0.6267	0.6107	0.08	1	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.C1720T:p.R574C,AKAP13:NM_006738:exon7:c.C1720T:p.R574C,	AKAP13:uc002blu.2:exon7:c.C1720T:p.R574C,AKAP13:uc002blt.2:exon7:c.C1720T:p.R574C,AKAP13:uc002blv.2:exon7:c.C1720T:p.R574C,	UNKNOWN	Het;C>T	608;55|32	Hom;C>T	2941;0|106
N	N	-	15	86123833	86123833	T	C	snp	nonsynonymous SNV	T2534C	V845A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs4075256	0.582069	0.6258	0.6072	0.08	1	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.T2534C:p.V845A,AKAP13:NM_006738:exon7:c.T2534C:p.V845A,	AKAP13:uc002blu.2:exon7:c.T2534C:p.V845A,AKAP13:uc002blt.2:exon7:c.T2534C:p.V845A,AKAP13:uc002blv.2:exon7:c.T2534C:p.V845A,	UNKNOWN	Het;T>C	2236;90|99	Hom;T>C	4675;0|164
N	N	-	15	86123924	86123924	C	T	snp	synonymous SNV	C2625T	P875P	hydrophobic,neutral	hydrophobic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs4075255	0.582268	0.6262	0.6106	1	0	0	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	synonymous SNV	synonymous SNV	unknown	AKAP13:NM_007200:exon7:c.C2625T:p.P875P,AKAP13:NM_006738:exon7:c.C2625T:p.P875P,	AKAP13:uc002blu.2:exon7:c.C2625T:p.P875P,AKAP13:uc002blt.2:exon7:c.C2625T:p.P875P,AKAP13:uc002blv.2:exon7:c.C2625T:p.P875P,	UNKNOWN	Het;C>T	1726;72|80	Hom;C>T	2899;0|104
N	N	-	15	86123988	86123988	G	A	snp	nonsynonymous SNV	G2689A	V897M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs4075254	0.582069	0.6264	0.6105	0.17	2	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.G2689A:p.V897M,AKAP13:NM_006738:exon7:c.G2689A:p.V897M,	AKAP13:uc002blu.2:exon7:c.G2689A:p.V897M,AKAP13:uc002blt.2:exon7:c.G2689A:p.V897M,AKAP13:uc002blv.2:exon7:c.G2689A:p.V897M,	UNKNOWN	Het;G>A	1460;65|67	Hom;G>A	2890;0|107
N	N	-	15	86124419	86124419	C	T	snp	synonymous SNV	C3120T	S1040S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs4843073	0.58147	0.6263	0.6103	1	0	0	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	synonymous SNV	synonymous SNV	unknown	AKAP13:NM_007200:exon7:c.C3120T:p.S1040S,AKAP13:NM_006738:exon7:c.C3120T:p.S1040S,	AKAP13:uc002blu.2:exon7:c.C3120T:p.S1040S,AKAP13:uc002blt.2:exon7:c.C3120T:p.S1040S,AKAP13:uc002blv.2:exon7:c.C3120T:p.S1040S,	UNKNOWN	Het;C>T	955;64|48	Hom;C>T	2845;1|101
N	N	-	15	86124483	86124483	C	G	snp	nonsynonymous SNV	C3184G	P1062A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs4843074	0.581869	0.6259	0.6103	0.08	1	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.C3184G:p.P1062A,AKAP13:NM_006738:exon7:c.C3184G:p.P1062A,	AKAP13:uc002blu.2:exon7:c.C3184G:p.P1062A,AKAP13:uc002blt.2:exon7:c.C3184G:p.P1062A,AKAP13:uc002blv.2:exon7:c.C3184G:p.P1062A,	UNKNOWN	Het;C>G	1447;91|67	Hom;C>G	3752;0|129
N	N	-	15	86124555	86124555	G	A	snp	nonsynonymous SNV	G3256A	D1086N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs4843075	0.58127	0.6264	0.6102	0.08	1	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.G3256A:p.D1086N,AKAP13:NM_006738:exon7:c.G3256A:p.D1086N,	AKAP13:uc002blu.2:exon7:c.G3256A:p.D1086N,AKAP13:uc002blt.2:exon7:c.G3256A:p.D1086N,AKAP13:uc002blv.2:exon7:c.G3256A:p.D1086N,	UNKNOWN	Het;G>A	1518;101|76	Hom;G>A	4597;0|169
N	N	-	15	86124946	86124946	T	C	snp	nonsynonymous SNV	T3647C	M1216T	hydrophobic,neutral	polar,hydrophilic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs7162168	0.582668	0.6270	0.6095	0.08	1	12	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP13:NM_007200:exon7:c.T3647C:p.M1216T,AKAP13:NM_006738:exon7:c.T3647C:p.M1216T,	AKAP13:uc002blu.2:exon7:c.T3647C:p.M1216T,AKAP13:uc002blt.2:exon7:c.T3647C:p.M1216T,AKAP13:uc002blv.2:exon7:c.T3647C:p.M1216T,	UNKNOWN	Het;T>C	1348;63|41	Hom;T>C	2636;1|95
N	N	-	15	86124968	86124968	G	A	snp	synonymous SNV	G3669A	R1223R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs11633087	0.575679	0.6195	0.6056	1	0	0	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	synonymous SNV	synonymous SNV	unknown	AKAP13:NM_007200:exon7:c.G3669A:p.R1223R,AKAP13:NM_006738:exon7:c.G3669A:p.R1223R,	AKAP13:uc002blu.2:exon7:c.G3669A:p.R1223R,AKAP13:uc002blt.2:exon7:c.G3669A:p.R1223R,AKAP13:uc002blv.2:exon7:c.G3669A:p.R1223R,	UNKNOWN	Het;G>A	1195;73|35	Hom;G>A	2863;0|101
N	N	-	15	86125031	86125031	G	A	snp	synonymous SNV	G3732A	G1244G	aliphatic,neutral	aliphatic,neutral	AKAP13	Akap13	ENSG00000170776	A-kinase anchoring protein 13	chr15:85923802-86292586	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]	smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AKAP13			https://www.ncbi.nlm.nih.gov/omim/?term=604686	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13	rs7178065	0.576677	0.6253	0.6067	1	0	0	exonic	exonic	exonic	AKAP13	AKAP13	ENSG00000170776	synonymous SNV	synonymous SNV	unknown	AKAP13:NM_007200:exon7:c.G3732A:p.G1244G,AKAP13:NM_006738:exon7:c.G3732A:p.G1244G,	AKAP13:uc002blu.2:exon7:c.G3732A:p.G1244G,AKAP13:uc002blt.2:exon7:c.G3732A:p.G1244G,AKAP13:uc002blv.2:exon7:c.G3732A:p.G1244G,	UNKNOWN	Het;G>A	941;50|43	Hom;G>A	3625;0|131
N	N	-	15	86189006	86189006	G	GT	indel	ncRNA_intronic	 	 	 	 	AC087286.2																		rs71468130	0	0	0.3805	1	0	0	intronic	intronic	ncRNA_intronic	AKAP13	AKAP13	ENSG00000259367	Na	Na	Na	Na	Na	Na	Het;+T	549;23|35	Hom;+T	1010;1|43
N	N	-	15	86205478	86205478	G	A	snp	ncRNA_intronic	 	 	 	 	AC087286.2																		rs189264	0.21865	0	0	1	0	0	intronic	intronic	ncRNA_intronic	AKAP13	AKAP13	ENSG00000259367	Na	Na	Na	Na	Na	Na	Het;G>A	161;5|6	Hom;G>A	79;0|3
N	N	-	15	86213172	86213172	A	G	snp	ncRNA_intronic	 	 	 	 	AC087286.2																		rs338523	0.596046	0	0	1	0	0	intronic	intronic	ncRNA_intronic	AKAP13	AKAP13	ENSG00000259367	Na	Na	Na	Na	Na	Na	Het;A>G	186;8|7	Hom;A>G	352;0|10
N	N	-	15	86463640	86463640	C	T	snp	intergenic	 	 	 	 	MIR548AP																		rs62014160	0.149361	0	0	1	0	0	intergenic	intergenic	intergenic	KLHL25(dist=125451),LINC01584(dist=162936)	U6(dist=98452),5S_rRNA(dist=217860)	ENSG00000264406(dist=94679),ENSG00000259608(dist=38308)	Na	Na	Na	Na	Na	Na	Het;C>T	228;27|15	Hom;C>T	589;0|24
N	N	-	15	86940622	86940622	T	C	snp	synonymous SNV	T2262C	T754T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AGBL1	Agbl1	ENSG00000273540	ATP/GTP binding protein like 1	chr15:86685227-87572283	Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]	Schizophrenia; Life Expectancy; Erythrocyte Count; Brain; Cholesterol, LDL; Erythrocytes; Waist Circumference; Cytomegalovirus Vaccines; Hip; Lipoproteins; Antidepressive Agents; Insulin; Body Weights and Measures; schizophrenia; Glucose; Migraine without Aura; Tobacco Use Disorder; Menopause	Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection.	Carboxyterminal post-translational modifications of tubulin	GO:0006508;proteolysis;IEA|GO:0035609;C-terminal protein deglutamylation;ISS|GO:0035610;protein side chain deglutamylation;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGBL1		https://hpo.jax.org/app/browse/search?q=AGBL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615496	http://www.informatics.jax.org/searchtool/Search.do?query=AGBL1&submit=Quick%0D%20943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL1	rs4362360	0.744209	0.6072	0.5826	1	0	0	exonic	exonic	exonic	AGBL1	AGBL1	ENSG00000166748	synonymous SNV	synonymous SNV	unknown	AGBL1:NM_152336:exon17:c.T2262C:p.T754T,	AGBL1:uc002blz.1:exon17:c.T2262C:p.T754T,	UNKNOWN	Het;T>C	278;13|11	Hom;T>C	788;0|29
N	N	-	15	87099537	87099537	T	C	snp	intronic	 	 	 	 	AGBL1	Agbl1	ENSG00000273540	ATP/GTP binding protein like 1	chr15:86685227-87572283	Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]	Schizophrenia; Life Expectancy; Erythrocyte Count; Brain; Cholesterol, LDL; Erythrocytes; Waist Circumference; Cytomegalovirus Vaccines; Hip; Lipoproteins; Antidepressive Agents; Insulin; Body Weights and Measures; schizophrenia; Glucose; Migraine without Aura; Tobacco Use Disorder; Menopause	Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection.	Carboxyterminal post-translational modifications of tubulin	GO:0006508;proteolysis;IEA|GO:0035609;C-terminal protein deglutamylation;ISS|GO:0035610;protein side chain deglutamylation;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGBL1		https://hpo.jax.org/app/browse/search?q=AGBL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615496	http://www.informatics.jax.org/searchtool/Search.do?query=AGBL1&submit=Quick%0D%20943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL1	rs752270	0.753195	0.6962	0.6587	1	0	0	intronic	intronic	intronic	AGBL1	AGBL1	ENSG00000166748	Na	Na	Na	Na	Na	Na	Het;T>C	908;56|48	Hom;T>C	2254;0|87
N	N	-	15	87317670	87317670	G	A	snp	intronic	 	 	 	 	AGBL1	Agbl1	ENSG00000273540	ATP/GTP binding protein like 1	chr15:86685227-87572283	Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]	Schizophrenia; Life Expectancy; Erythrocyte Count; Brain; Cholesterol, LDL; Erythrocytes; Waist Circumference; Cytomegalovirus Vaccines; Hip; Lipoproteins; Antidepressive Agents; Insulin; Body Weights and Measures; schizophrenia; Glucose; Migraine without Aura; Tobacco Use Disorder; Menopause	Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection.	Carboxyterminal post-translational modifications of tubulin	GO:0006508;proteolysis;IEA|GO:0035609;C-terminal protein deglutamylation;ISS|GO:0035610;protein side chain deglutamylation;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGBL1		https://hpo.jax.org/app/browse/search?q=AGBL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615496	http://www.informatics.jax.org/searchtool/Search.do?query=AGBL1&submit=Quick%0D%20943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL1	rs12899293	0.546126	0	0	1	0	0	intronic	intronic	intronic	AGBL1	AGBL1	ENSG00000166748	Na	Na	Na	Na	Na	Na	Het;G>A	1015;48|52	Hom;G>A	1850;0|73
N	N	-	15	88121078	88121078	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00052																		rs11073722	0.586861	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00052	LINC00052	ENSG00000259527,ENSG00000259560	Na	Na	Na	Na	Na	Na	Het;A>G	364;18|14	Hom;A>G	860;0|26
N	N	-	15	88122296	88122296	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00052																		rs4243091	0.720647	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00052	LINC00052	ENSG00000259527	Na	Na	Na	Na	Na	Na	Het;G>A	2930;149|138	Hom;G>A	6133;0|230
N	N	-	15	88522842	88522842	G	A	snp	intronic	 	 	 	 	NTRK3	Ntrk3	ENSG00000140538	neurotrophic receptor tyrosine kinase 3	chr15:88418230-88799999	This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]	depression; Gaucher Disease; ADHD | attention-deficit hyperactivity disorder; Hirschsprung Disease; several psychiatric disorders; Autism; null; Alcoholism; Alanine Transaminase; mood disorders; panic disorder; obsessive Compulsive Disorder; Pancreatic Neoplasms; Body Weight; hypertension; Bone Mineral Density; Tobacco Use Disorder; Forced Vital Capacity; schizophrenia	Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation.	Receptor-type tyrosine-protein phosphatases	GO:0000187;activation of MAPK activity;IDA|GO:0001764;neuron migration;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IMP|GO:0007623;circadian rhythm;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019056;modulation by virus of host transcription;IEA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0032148;activation of protein kinase B activity;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0038179;neurotrophin signaling pathway;IEA|GO:0042490;mechanoreceptor differentiation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045471;response to ethanol;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048665;neuron fate specification;IEA|GO:0048678;response to axon injury;IEA|GO:0048691;positive regulation of axon extension involved in regeneration;IEA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051412;response to corticosterone;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0090102;cochlea development;IEA|GO:0090630;activation of GTPase activity;IDA|GO:2000251;positive regulation of actin cytoskeleton reorganization;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0043121;neurotrophin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NTRK3	https://www.uniprot.org/uniprot/Q16288		https://www.ncbi.nlm.nih.gov/omim/?term=191316	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK3&submit=Quick%0D%8048ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK3	rs140410782	0.00658946	0	0	1	0	0	intronic	intronic	intronic	NTRK3	NTRK3	ENSG00000140538	Na	Na	Na	Na	Na	Na	Het;G>A	67;4|3	Hom;G>A	98;0|4
N	N	-	15	88576185	88576185	G	C	snp	synonymous SNV	C1464G	A488A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NTRK3	Ntrk3	ENSG00000140538	neurotrophic receptor tyrosine kinase 3	chr15:88418230-88799999	This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]	depression; Gaucher Disease; ADHD | attention-deficit hyperactivity disorder; Hirschsprung Disease; several psychiatric disorders; Autism; null; Alcoholism; Alanine Transaminase; mood disorders; panic disorder; obsessive Compulsive Disorder; Pancreatic Neoplasms; Body Weight; hypertension; Bone Mineral Density; Tobacco Use Disorder; Forced Vital Capacity; schizophrenia	Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation.	Receptor-type tyrosine-protein phosphatases	GO:0000187;activation of MAPK activity;IDA|GO:0001764;neuron migration;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IMP|GO:0007623;circadian rhythm;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019056;modulation by virus of host transcription;IEA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0032148;activation of protein kinase B activity;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0038179;neurotrophin signaling pathway;IEA|GO:0042490;mechanoreceptor differentiation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045471;response to ethanol;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048665;neuron fate specification;IEA|GO:0048678;response to axon injury;IEA|GO:0048691;positive regulation of axon extension involved in regeneration;IEA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051412;response to corticosterone;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0090102;cochlea development;IEA|GO:0090630;activation of GTPase activity;IDA|GO:2000251;positive regulation of actin cytoskeleton reorganization;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0043121;neurotrophin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NTRK3	https://www.uniprot.org/uniprot/Q16288		https://www.ncbi.nlm.nih.gov/omim/?term=191316	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK3&submit=Quick%0D%8048ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK3	rs2229910	0.35004	0.3719	0.3610	1	0	0	exonic	exonic	exonic	NTRK3	NTRK3	ENSG00000140538	synonymous SNV	synonymous SNV	unknown	NTRK3:NM_001007156:exon14:c.C1488G:p.A496A,NTRK3:NM_001243101:exon13:c.C1464G:p.A488A,NTRK3:NM_001012338:exon14:c.C1488G:p.A496A,NTRK3:NM_002530:exon14:c.C1488G:p.A496A,	NTRK3:uc002bmh.2:exon11:c.C1464G:p.A488A,NTRK3:uc002bmf.2:exon14:c.C1488G:p.A496A,NTRK3:uc010bnh.1:exon11:c.C1464G:p.A488A,NTRK3:uc021sua.1:exon13:c.C1464G:p.A488A,NTRK3:uc010upl.1:exon12:c.C1194G:p.A398A,NTRK3:uc002bmg.3:exon14:c.C1488G:p.A496A,NTRK3:uc002bme.2:exon14:c.C1488G:p.A496A,	UNKNOWN	Het;G>C	958;62|50	Hom;G>C	2223;2|86
N	N	-	15	88761794	88761794	T	C	snp	intronic	 	 	 	 	NTRK3	Ntrk3	ENSG00000140538	neurotrophic receptor tyrosine kinase 3	chr15:88418230-88799999	This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]	depression; Gaucher Disease; ADHD | attention-deficit hyperactivity disorder; Hirschsprung Disease; several psychiatric disorders; Autism; null; Alcoholism; Alanine Transaminase; mood disorders; panic disorder; obsessive Compulsive Disorder; Pancreatic Neoplasms; Body Weight; hypertension; Bone Mineral Density; Tobacco Use Disorder; Forced Vital Capacity; schizophrenia	Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation.	Receptor-type tyrosine-protein phosphatases	GO:0000187;activation of MAPK activity;IDA|GO:0001764;neuron migration;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IMP|GO:0007623;circadian rhythm;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019056;modulation by virus of host transcription;IEA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0032148;activation of protein kinase B activity;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0038179;neurotrophin signaling pathway;IEA|GO:0042490;mechanoreceptor differentiation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045471;response to ethanol;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048665;neuron fate specification;IEA|GO:0048678;response to axon injury;IEA|GO:0048691;positive regulation of axon extension involved in regeneration;IEA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051412;response to corticosterone;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0090102;cochlea development;IEA|GO:0090630;activation of GTPase activity;IDA|GO:2000251;positive regulation of actin cytoskeleton reorganization;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0043121;neurotrophin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NTRK3	https://www.uniprot.org/uniprot/Q16288		https://www.ncbi.nlm.nih.gov/omim/?term=191316	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK3&submit=Quick%0D%8048ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK3	rs12591318	0.824481	0	0	1	0	0	intronic	intronic	intronic	NTRK3	NTRK3	ENSG00000140538	Na	Na	Na	Na	Na	Na	Het;T>C	122;21|9	Hom;T>C	1533;1|59
N	N	-	15	89169858	89169858	A	G	snp	nonsynonymous SNV	A418G	N140D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	AEN	Aen	ENSG00000181026	apoptosis enhancing nuclease	chr15:89164527-89175513		Alzheimer Disease	 		GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0031965;nuclear membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEN			https://www.ncbi.nlm.nih.gov/omim/?term=610177	http://www.informatics.jax.org/searchtool/Search.do?query=AEN&submit=Quick%0D%14571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEN	rs8027765	0.758387	0.8137	0.8602	0.23	3	13	exonic	exonic	exonic	AEN	AEN	ENSG00000181026	nonsynonymous SNV	nonsynonymous SNV	unknown	AEN:NM_022767:exon2:c.A418G:p.N140D,	AEN:uc010bnm.1:exon1:c.A418G:p.N140D,AEN:uc010bnl.2:exon2:c.A418G:p.N140D,AEN:uc002bmt.2:exon2:c.A418G:p.N140D,	UNKNOWN	Het;A>G	2013;109|96	Hom;A>G	6037;1|217
N	N	-	15	89172352	89172352	C	T	snp	intronic	 	 	 	 	AEN	Aen	ENSG00000181026	apoptosis enhancing nuclease	chr15:89164527-89175513		Alzheimer Disease	 		GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0031965;nuclear membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEN			https://www.ncbi.nlm.nih.gov/omim/?term=610177	http://www.informatics.jax.org/searchtool/Search.do?query=AEN&submit=Quick%0D%14571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEN	rs3826040	0.742212	0	0	1	0	0	intronic	intronic	intronic	AEN	AEN	ENSG00000181026	Na	Na	Na	Na	Na	Na	Het;C>T	64;5|3	Hom;C>T	259;0|9
N	N	-	15	89172558	89172558	G	C	snp	synonymous SNV	G642C	T214T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AEN	Aen	ENSG00000181026	apoptosis enhancing nuclease	chr15:89164527-89175513		Alzheimer Disease	 		GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0031965;nuclear membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEN			https://www.ncbi.nlm.nih.gov/omim/?term=610177	http://www.informatics.jax.org/searchtool/Search.do?query=AEN&submit=Quick%0D%14571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEN	rs3743475	0.752396	0.8054	0.8529	1	0	0	exonic	exonic	exonic	AEN	AEN	ENSG00000181026	synonymous SNV	synonymous SNV	unknown	AEN:NM_022767:exon3:c.G642C:p.T214T,	AEN:uc010bnm.1:exon2:c.G642C:p.T214T,AEN:uc002bmt.2:exon3:c.G642C:p.T214T,	UNKNOWN	Het;G>C	1559;64|70	Hom;G>C	3727;0|130
N	N	-	15	89172739	89172739	T	C	snp	intronic	 	 	 	 	AEN	Aen	ENSG00000181026	apoptosis enhancing nuclease	chr15:89164527-89175513		Alzheimer Disease	 		GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0031965;nuclear membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEN			https://www.ncbi.nlm.nih.gov/omim/?term=610177	http://www.informatics.jax.org/searchtool/Search.do?query=AEN&submit=Quick%0D%14571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEN	rs12903425	0.0800719	0	0	1	0	0	intronic	intronic	intronic	AEN	AEN	ENSG00000181026	Na	Na	Na	Na	Na	Na	Het;T>C	322;9|12	Hom;T>C	515;0|17
N	N	-	15	89173556	89173556	C	T	snp	UTR3	*31C>T	 	 	 	AEN	Aen	ENSG00000181026	apoptosis enhancing nuclease	chr15:89164527-89175513		Alzheimer Disease	 		GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0031965;nuclear membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AEN			https://www.ncbi.nlm.nih.gov/omim/?term=610177	http://www.informatics.jax.org/searchtool/Search.do?query=AEN&submit=Quick%0D%14571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AEN	rs17777460	0.0471246	0.0657	0.1274	1	0	0	UTR3	UTR3	UTR3	AEN(NM_022767:c.*31C>T)	AEN(uc002bmt.2:c.*31C>T)	ENSG00000181026(ENST00000332810:c.*31C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	164;28|9	Hom;C>T	1507;0|55
N	N	-	15	89182596	89182596	A	G	snp	UTR5	-2A>G	 	 	 	ISG20	Isg20	ENSG00000172183	interferon stimulated exonuclease gene 20	chr15:89179384-89199714		Creatinine; Dupuytren Contracture	 	Interferon alpha/beta signaling	GO:0000738;DNA catabolic process, exonucleolytic;IDA|GO:0002376;immune system process;IEA|GO:0006364;rRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0008283;cell proliferation;TAS|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0016605;PML body;IDA	GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008859;exoribonuclease II activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030619;U1 snRNA binding;IDA|GO:0030620;U2 snRNA binding;IDA|GO:0034511;U3 snoRNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG20			https://www.ncbi.nlm.nih.gov/omim/?term=604533	http://www.informatics.jax.org/searchtool/Search.do?query=ISG20&submit=Quick%0D%13100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG20	rs3200942	0.352037	0.4482	0.4631	1	0	0	UTR5	UTR5	UTR5	ISG20(NM_001303233:c.-2A>G,NM_001303234:c.-2A>G,NM_001303237:c.-2A>G,NM_001303236:c.-12550A>G,NM_002201:c.-2A>G)	ISG20(uc002bmv.1:c.-2A>G)	ENSG00000172183(ENST00000560741:c.-2A>G,ENST00000306072:c.-2A>G,ENST00000379224:c.-2A>G,ENST00000559876:c.-2A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	331;31|16	Hom;A>G	1810;1|61
N	N	-	15	89195178	89195178	G	C	snp	synonymous SNV	G33C	V11V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ISG20	Isg20	ENSG00000172183	interferon stimulated exonuclease gene 20	chr15:89179384-89199714		Creatinine; Dupuytren Contracture	 	Interferon alpha/beta signaling	GO:0000738;DNA catabolic process, exonucleolytic;IDA|GO:0002376;immune system process;IEA|GO:0006364;rRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0008283;cell proliferation;TAS|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0016605;PML body;IDA	GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008859;exoribonuclease II activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030619;U1 snRNA binding;IDA|GO:0030620;U2 snRNA binding;IDA|GO:0034511;U3 snoRNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG20			https://www.ncbi.nlm.nih.gov/omim/?term=604533	http://www.informatics.jax.org/searchtool/Search.do?query=ISG20&submit=Quick%0D%13100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG20	rs6496516	0.785144	0	0	1	0	0	exonic	intronic	intronic	ISG20	ISG20	ENSG00000172183	synonymous SNV	Na	Na	ISG20:NM_001303235:exon2:c.G33C:p.V11V,ISG20:NM_001303236:exon3:c.G33C:p.V11V,	Na	Na	Het;G>C	941;28|35	Hom;G>C	1665;0|58
N	N	-	15	89195526	89195526	A	G	snp	synonymous SNV	A414G	L138L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ISG20	Isg20	ENSG00000172183	interferon stimulated exonuclease gene 20	chr15:89179384-89199714		Creatinine; Dupuytren Contracture	 	Interferon alpha/beta signaling	GO:0000738;DNA catabolic process, exonucleolytic;IDA|GO:0002376;immune system process;IEA|GO:0006364;rRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0008283;cell proliferation;TAS|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0016605;PML body;IDA	GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008859;exoribonuclease II activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030619;U1 snRNA binding;IDA|GO:0030620;U2 snRNA binding;IDA|GO:0034511;U3 snoRNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG20			https://www.ncbi.nlm.nih.gov/omim/?term=604533	http://www.informatics.jax.org/searchtool/Search.do?query=ISG20&submit=Quick%0D%13100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG20	rs1137166	0.795327	0.8261	0.8239	1	0	0	exonic	exonic	exonic	ISG20	ISG20	ENSG00000172183	synonymous SNV	synonymous SNV	unknown	ISG20:NM_001303237:exon3:c.A354G:p.L118L,ISG20:NM_001303235:exon2:c.A381G:p.L127L,ISG20:NM_001303236:exon3:c.A381G:p.L127L,ISG20:NM_001303234:exon4:c.A414G:p.L138L,ISG20:NM_001303233:exon3:c.A414G:p.L138L,ISG20:NM_002201:exon3:c.A414G:p.L138L,	ISG20:uc002bmv.1:exon3:c.A414G:p.L138L,	UNKNOWN	Het;A>G	1719;86|86	Hom;A>G	4299;0|154
N	N	-	15	89199435	89199435	G	T	snp	UTR3	*673G>T	 	 	 	ISG20	Isg20	ENSG00000172183	interferon stimulated exonuclease gene 20	chr15:89179384-89199714		Creatinine; Dupuytren Contracture	 	Interferon alpha/beta signaling	GO:0000738;DNA catabolic process, exonucleolytic;IDA|GO:0002376;immune system process;IEA|GO:0006364;rRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0008283;cell proliferation;TAS|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0016605;PML body;IDA	GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008859;exoribonuclease II activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030619;U1 snRNA binding;IDA|GO:0030620;U2 snRNA binding;IDA|GO:0034511;U3 snoRNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG20			https://www.ncbi.nlm.nih.gov/omim/?term=604533	http://www.informatics.jax.org/searchtool/Search.do?query=ISG20&submit=Quick%0D%13100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG20	rs7181746	0.786142	0	0	1	0	0	UTR3	downstream	UTR3	ISG20(NM_001303233:c.*673G>T,NM_001303234:c.*673G>T,NM_001303235:c.*673G>T,NM_001303237:c.*673G>T,NM_001303236:c.*673G>T,NM_002201:c.*673G>T)	ISG20	ENSG00000172183(ENST00000306072:c.*673G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	1534;83|75	Hom;G>T	4346;0|165
N	N	-	15	89201435	89201435	T	C	snp	intergenic	 	 	 	 	ISG20	Isg20	ENSG00000172183	interferon stimulated exonuclease gene 20	chr15:89179384-89199714		Creatinine; Dupuytren Contracture	 	Interferon alpha/beta signaling	GO:0000738;DNA catabolic process, exonucleolytic;IDA|GO:0002376;immune system process;IEA|GO:0006364;rRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0008283;cell proliferation;TAS|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0016605;PML body;IDA	GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008859;exoribonuclease II activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030619;U1 snRNA binding;IDA|GO:0030620;U2 snRNA binding;IDA|GO:0034511;U3 snoRNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG20			https://www.ncbi.nlm.nih.gov/omim/?term=604533	http://www.informatics.jax.org/searchtool/Search.do?query=ISG20&submit=Quick%0D%13100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG20	rs4932400	0.786142	0	0	1	0	0	intergenic	intergenic	intergenic	ISG20(dist=1860),ACAN(dist=145239)	ISG20(dist=2556),ACAN(dist=145239)	ENSG00000172183(dist=1721),ENSG00000259676(dist=139209)	Na	Na	Na	Na	Na	Na	Het;T>C	194;4|9	Hom;T>C	398;0|16
N	N	-	15	89201521	89201521	G	A	snp	intergenic	 	 	 	 	ISG20	Isg20	ENSG00000172183	interferon stimulated exonuclease gene 20	chr15:89179384-89199714		Creatinine; Dupuytren Contracture	 	Interferon alpha/beta signaling	GO:0000738;DNA catabolic process, exonucleolytic;IDA|GO:0002376;immune system process;IEA|GO:0006364;rRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0008283;cell proliferation;TAS|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0016605;PML body;IDA	GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008859;exoribonuclease II activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030619;U1 snRNA binding;IDA|GO:0030620;U2 snRNA binding;IDA|GO:0034511;U3 snoRNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG20			https://www.ncbi.nlm.nih.gov/omim/?term=604533	http://www.informatics.jax.org/searchtool/Search.do?query=ISG20&submit=Quick%0D%13100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG20	rs4932401	0.369209	0	0	1	0	0	intergenic	intergenic	intergenic	ISG20(dist=1946),ACAN(dist=145153)	ISG20(dist=2642),ACAN(dist=145153)	ENSG00000172183(dist=1807),ENSG00000259676(dist=139123)	Na	Na	Na	Na	Na	Na	Het;G>A	122;1|6	Hom;G>A	155;0|7
N	N	-	15	89416002	89416002	T	G	snp	intronic	 	 	 	 	ACAN	Acan	ENSG00000157766	aggrecan	chr15:89346674-89418585	This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]	Intervertebral Disk Degeneration; height; myelopathy, HTLV-1 associated; Intervertebral Disk Displacement; Ache, Low Back|Intervertebral Disk Displacement|Low Back Pain|Occupational Diseases; scoliosis; Arthritis, Rheumatoid|; lumbar disc degeneration; Type 2 Diabetes| edema | rosiglitazone; bilateral hand osteoarthritis; Height; Alzheimer's disease ; Funnel Chest; Tobacco Use Disorder	Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia.		GO:0001502;cartilage condensation;IEA|GO:0002063;chondrocyte development;IEA|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;IEA|GO:0030166;proteoglycan biosynthetic process;IEA|GO:0030199;collagen fibril organization;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA	GO:0005509;calcium ion binding;IEA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAN		https://hpo.jax.org/app/browse/search?q=ACAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=155760	http://www.informatics.jax.org/searchtool/Search.do?query=ACAN&submit=Quick%0D%10128ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAN	rs16942409	0.41853	0	0	1	0	0	intronic	intronic	intronic	ACAN	ACAN	ENSG00000157766	Na	Na	Na	Na	Na	Na	Het;T>G	185;3|6	Hom;T>G	273;0|9
N	N	-	15	89417238	89417238	A	G	snp	nonsynonymous SNV	A7499G	Q2500R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ACAN	Acan	ENSG00000157766	aggrecan	chr15:89346674-89418585	This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]	Intervertebral Disk Degeneration; height; myelopathy, HTLV-1 associated; Intervertebral Disk Displacement; Ache, Low Back|Intervertebral Disk Displacement|Low Back Pain|Occupational Diseases; scoliosis; Arthritis, Rheumatoid|; lumbar disc degeneration; Type 2 Diabetes| edema | rosiglitazone; bilateral hand osteoarthritis; Height; Alzheimer's disease ; Funnel Chest; Tobacco Use Disorder	Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia.		GO:0001502;cartilage condensation;IEA|GO:0002063;chondrocyte development;IEA|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;IEA|GO:0030166;proteoglycan biosynthetic process;IEA|GO:0030199;collagen fibril organization;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA	GO:0005509;calcium ion binding;IEA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAN		https://hpo.jax.org/app/browse/search?q=ACAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=155760	http://www.informatics.jax.org/searchtool/Search.do?query=ACAN&submit=Quick%0D%10128ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAN	rs1126823	0.406749	0.3953	0.2928	0.17	2	12	exonic	exonic	exonic	ACAN	ACAN	ENSG00000157766	nonsynonymous SNV	nonsynonymous SNV	unknown	ACAN:NM_013227:exon17:c.A7499G:p.Q2500R,	ACAN:uc010upo.1:exon17:c.A7499G:p.Q2500R,	UNKNOWN	Het;A>G	1107;78|54	Hom;A>G	3253;0|118
N	N	-	15	89417629	89417629	G	A	snp	intronic	 	 	 	 	ACAN	Acan	ENSG00000157766	aggrecan	chr15:89346674-89418585	This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]	Intervertebral Disk Degeneration; height; myelopathy, HTLV-1 associated; Intervertebral Disk Displacement; Ache, Low Back|Intervertebral Disk Displacement|Low Back Pain|Occupational Diseases; scoliosis; Arthritis, Rheumatoid|; lumbar disc degeneration; Type 2 Diabetes| edema | rosiglitazone; bilateral hand osteoarthritis; Height; Alzheimer's disease ; Funnel Chest; Tobacco Use Disorder	Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia.		GO:0001502;cartilage condensation;IEA|GO:0002063;chondrocyte development;IEA|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;IEA|GO:0030166;proteoglycan biosynthetic process;IEA|GO:0030199;collagen fibril organization;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA	GO:0005509;calcium ion binding;IEA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAN		https://hpo.jax.org/app/browse/search?q=ACAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=155760	http://www.informatics.jax.org/searchtool/Search.do?query=ACAN&submit=Quick%0D%10128ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAN	rs2280465	0.175719	0.2156	0.3000	1	0	0	intronic	intronic	intronic	ACAN	ACAN	ENSG00000157766	Na	Na	Na	Na	Na	Na	Het;G>A	712;41|38	Hom;G>A	2043;0|78
N	N	-	15	89421327	89421327	A	G	snp	synonymous SNV	T1143C	G381G	aliphatic,neutral	aliphatic,neutral	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs2280463	0.437899	0.4581	0.3399	1	0	0	exonic	exonic	exonic	HAPLN3	HAPLN3	ENSG00000140511	synonymous SNV	synonymous SNV	unknown	HAPLN3:NM_178232:exon5:c.T957C:p.G319G,	HAPLN3:uc002bnd.3:exon6:c.T1143C:p.G381G,HAPLN3:uc002bnc.3:exon5:c.T957C:p.G319G,	UNKNOWN	Het;A>G	1143;70|56	Hom;A>G	3256;0|116
N	N	-	15	89421405	89421405	G	A	snp	synonymous SNV	C1065T	I355I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs7182726	0.174521	0.2139	0.1912	1	0	0	exonic	exonic	exonic	HAPLN3	HAPLN3	ENSG00000140511	synonymous SNV	synonymous SNV	unknown	HAPLN3:NM_178232:exon5:c.C879T:p.I293I,	HAPLN3:uc002bnd.3:exon6:c.C1065T:p.I355I,HAPLN3:uc002bnc.3:exon5:c.C879T:p.I293I,	UNKNOWN	Het;G>A	1157;92|63	Hom;G>A	2609;0|93
N	N	-	15	89422286	89422286	C	T	snp	synonymous SNV	G894A	P298P	hydrophobic,neutral	hydrophobic,neutral	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs3809574	0.202276	0.1934	0.2101	1	0	0	exonic	exonic	exonic	HAPLN3	HAPLN3	ENSG00000140511	synonymous SNV	synonymous SNV	unknown	HAPLN3:NM_178232:exon4:c.G708A:p.P236P,	HAPLN3:uc002bnd.3:exon5:c.G894A:p.P298P,HAPLN3:uc002bnc.3:exon4:c.G708A:p.P236P,	UNKNOWN	Het;C>T	1455;42|67	Hom;C>T	2417;0|87
N	N	-	15	89424581	89424581	A	G	snp	intronic	 	 	 	 	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs938605	0.257588	0.2220	0.2056	1	0	0	intronic	intronic	intronic	HAPLN3	HAPLN3	ENSG00000140511	Na	Na	Na	Na	Na	Na	Het;A>G	811;48|36	Hom;A>G	2310;0|80
N	N	-	15	89430506	89430506	C	T	snp	synonymous SNV	G210A	P70P	hydrophobic,neutral	hydrophobic,neutral	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs3743395	0.203674	0.2371	0.2329	1	0	0	exonic	exonic	exonic	HAPLN3	HAPLN3	ENSG00000140511	synonymous SNV	synonymous SNV	unknown	HAPLN3:NM_178232:exon2:c.G24A:p.P8P,	HAPLN3:uc002bnd.3:exon3:c.G210A:p.P70P,HAPLN3:uc002bnc.3:exon2:c.G24A:p.P8P,	UNKNOWN	Het;C>T	1214;63|61	Hom;C>T	2394;2|94
N	N	-	15	89436085	89436085	C	T	snp	intronic	 	 	 	 	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs884727	0.398163	0	0	1	0	0	intronic	intronic	intronic	HAPLN3	HAPLN3	ENSG00000140511	Na	Na	Na	Na	Na	Na	Het;C>T	115;3|6	Hom;C>T	243;0|10
N	N	-	15	89436244	89436244	T	C	snp	nonsynonymous SNV	A100G	T34A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs8024779	0.571086	0	0.5396	0.29	2	7	intronic	exonic	exonic	HAPLN3	HAPLN3	ENSG00000140511	Na	nonsynonymous SNV	unknown	Na	HAPLN3:uc002bnd.3:exon2:c.A100G:p.T34A,	UNKNOWN	Het;T>C	780;47|37	Hom;T>C	1801;0|68
N	N	-	15	89436295	89436295	G	A	snp	stopgain	C49T	Q17X	polar,hydrophilic,neutral	 	HAPLN3	Hapln3	ENSG00000140511	hyaluronan and proteoglycan link protein 3	chr15:89420519-89438857	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]		 		GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3	https://www.uniprot.org/uniprot/Q96S86			http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3	rs8039131	0.397564	0	0.3406	0.25	1	4	intronic	exonic	exonic	HAPLN3	HAPLN3	ENSG00000140511	Na	stopgain	unknown	Na	HAPLN3:uc002bnd.3:exon2:c.C49T:p.Q17X,	UNKNOWN	Het;G>A	675;51|34	Hom;G>A	1742;0|69
N	N	-	15	89444760	89444760	T	C	snp	intronic	 	 	 	 	MFGE8	Mfge8	ENSG00000140545	milk fat globule-EGF factor 8 protein	chr15:89441916-89456642	This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	kidney aging; Lupus Erythematosus, Systemic	Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice.  Splenomegaly occurs with age and defects occur in phagocytosis.	Amyloid fiber formation	GO:0001525;angiogenesis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007155;cell adhesion;IEA|GO:0007338;single fertilization;IEA|GO:0016032;viral process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050766;positive regulation of phagocytosis;IEA|GO:2000427;positive regulation of apoptotic cell clearance;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0001786;phosphatidylserine binding;IEA|GO:0005178;integrin binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MFGE8	https://www.uniprot.org/uniprot/Q08431		https://www.ncbi.nlm.nih.gov/omim/?term=602281	http://www.informatics.jax.org/searchtool/Search.do?query=MFGE8&submit=Quick%0D%8050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFGE8	rs2015495	0.514976	0.5603	0.5292	1	0	0	intronic	intronic	intronic	MFGE8	MFGE8	ENSG00000140545	Na	Na	Na	Na	Na	Na	Het;T>C	195;13|12	Hom;T>C	319;0|13
N	N	-	15	89449137	89449137	C	G	snp	intronic	 	 	 	 	MFGE8	Mfge8	ENSG00000140545	milk fat globule-EGF factor 8 protein	chr15:89441916-89456642	This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	kidney aging; Lupus Erythematosus, Systemic	Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice.  Splenomegaly occurs with age and defects occur in phagocytosis.	Amyloid fiber formation	GO:0001525;angiogenesis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007155;cell adhesion;IEA|GO:0007338;single fertilization;IEA|GO:0016032;viral process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050766;positive regulation of phagocytosis;IEA|GO:2000427;positive regulation of apoptotic cell clearance;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0001786;phosphatidylserine binding;IEA|GO:0005178;integrin binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MFGE8	https://www.uniprot.org/uniprot/Q08431		https://www.ncbi.nlm.nih.gov/omim/?term=602281	http://www.informatics.jax.org/searchtool/Search.do?query=MFGE8&submit=Quick%0D%8050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFGE8	rs3743388	0.442692	0.4218	0.3615	1	0	0	intronic	intronic	intronic	MFGE8	MFGE8	ENSG00000140545	Na	Na	Na	Na	Na	Na	Het;C>G	556;40|25	Hom;C>G	2343;0|82
N	N	-	15	89450087	89450087	C	T	snp	intronic	 	 	 	 	MFGE8	Mfge8	ENSG00000140545	milk fat globule-EGF factor 8 protein	chr15:89441916-89456642	This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	kidney aging; Lupus Erythematosus, Systemic	Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice.  Splenomegaly occurs with age and defects occur in phagocytosis.	Amyloid fiber formation	GO:0001525;angiogenesis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007155;cell adhesion;IEA|GO:0007338;single fertilization;IEA|GO:0016032;viral process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050766;positive regulation of phagocytosis;IEA|GO:2000427;positive regulation of apoptotic cell clearance;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0001786;phosphatidylserine binding;IEA|GO:0005178;integrin binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MFGE8	https://www.uniprot.org/uniprot/Q08431		https://www.ncbi.nlm.nih.gov/omim/?term=602281	http://www.informatics.jax.org/searchtool/Search.do?query=MFGE8&submit=Quick%0D%8050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFGE8	rs8029053	0.1877	0	0	1	0	0	intronic	intronic	intronic	MFGE8	MFGE8	ENSG00000140545	Na	Na	Na	Na	Na	Na	Het;C>T	1365;50|63	Hom;C>T	2207;2|80
N	N	-	15	89450546	89450546	C	T	snp	synonymous SNV	G267A	S89S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MFGE8	Mfge8	ENSG00000140545	milk fat globule-EGF factor 8 protein	chr15:89441916-89456642	This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	kidney aging; Lupus Erythematosus, Systemic	Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice.  Splenomegaly occurs with age and defects occur in phagocytosis.	Amyloid fiber formation	GO:0001525;angiogenesis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007155;cell adhesion;IEA|GO:0007338;single fertilization;IEA|GO:0016032;viral process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050766;positive regulation of phagocytosis;IEA|GO:2000427;positive regulation of apoptotic cell clearance;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0001786;phosphatidylserine binding;IEA|GO:0005178;integrin binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MFGE8	https://www.uniprot.org/uniprot/Q08431		https://www.ncbi.nlm.nih.gov/omim/?term=602281	http://www.informatics.jax.org/searchtool/Search.do?query=MFGE8&submit=Quick%0D%8050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFGE8	rs1878327	0.628994	0.6950	0.6150	1	0	0	exonic	exonic	exonic	MFGE8	MFGE8	ENSG00000140545	synonymous SNV	synonymous SNV	unknown	MFGE8:NM_001114614:exon3:c.G267A:p.S89S,MFGE8:NM_005928:exon3:c.G267A:p.S89S,	MFGE8:uc002bnh.4:exon3:c.G267A:p.S89S,MFGE8:uc010upq.2:exon2:c.G135A:p.S45S,MFGE8:uc010bno.3:exon2:c.G135A:p.S45S,MFGE8:uc010bnn.3:exon4:c.G243A:p.S81S,MFGE8:uc002bng.4:exon3:c.G267A:p.S89S,	UNKNOWN	Het;C>T	1051;84|56	Hom;C>T	3920;0|146
N	N	-	15	89450587	89450587	G	T	snp	nonsynonymous SNV	C226A	L76M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MFGE8	Mfge8	ENSG00000140545	milk fat globule-EGF factor 8 protein	chr15:89441916-89456642	This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	kidney aging; Lupus Erythematosus, Systemic	Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice.  Splenomegaly occurs with age and defects occur in phagocytosis.	Amyloid fiber formation	GO:0001525;angiogenesis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007155;cell adhesion;IEA|GO:0007338;single fertilization;IEA|GO:0016032;viral process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050766;positive regulation of phagocytosis;IEA|GO:2000427;positive regulation of apoptotic cell clearance;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0001786;phosphatidylserine binding;IEA|GO:0005178;integrin binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MFGE8	https://www.uniprot.org/uniprot/Q08431		https://www.ncbi.nlm.nih.gov/omim/?term=602281	http://www.informatics.jax.org/searchtool/Search.do?query=MFGE8&submit=Quick%0D%8050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFGE8	rs1878326	0.638379	0.6972	0.6218	0.25	3	12	exonic	exonic	exonic	MFGE8	MFGE8	ENSG00000140545	nonsynonymous SNV	nonsynonymous SNV	unknown	MFGE8:NM_001114614:exon3:c.C226A:p.L76M,MFGE8:NM_005928:exon3:c.C226A:p.L76M,	MFGE8:uc002bnh.4:exon3:c.C226A:p.L76M,MFGE8:uc010upq.2:exon2:c.C94A:p.L32M,MFGE8:uc010bno.3:exon2:c.C94A:p.L32M,MFGE8:uc010bnn.3:exon4:c.C202A:p.L68M,MFGE8:uc002bng.4:exon3:c.C226A:p.L76M,	UNKNOWN	Het;G>T	690;65|38	Hom;G>T	2577;0|98
N	N	-	15	89533536	89533536	T	TGGCGGG	indel	upstream	 	 	 	 	AC107954.1																		rs146617613	0.270367	0	0	1	0	0	intergenic	intergenic	upstream	MFGE8(dist=76873),ABHD2(dist=97845)	MFGE8(dist=76873),ABHD2(dist=97845)	ENSG00000261549	Na	Na	Na	Na	Na	Na	Het;+GGCGGG	49;4|4	Hom;+GGCGGG	593;0|14
N	N	-	15	89787055	89787055	T	G	snp	upstream	 	 	 	 	FANCI	Fanci	ENSG00000140525	Fanconi anemia complementation group I	chr15:89787180-89860492	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	breast cancer 	 	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007095;mitotic G2 DNA damage checkpoint;IBA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0036297;interstrand cross-link repair;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCI	https://www.uniprot.org/uniprot/Q9NVI1	https://hpo.jax.org/app/browse/search?q=FANCI&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611360	http://www.informatics.jax.org/searchtool/Search.do?query=FANCI&submit=Quick%0D%8044ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCI	rs7178152	0.567492	0	0	1	0	0	upstream	upstream	upstream	FANCI	FANCI	ENSG00000140525	Na	Na	Na	Na	Na	Na	Het;T>G	161;3|6	Hom;T>G	150;0|5
N	N	-	15	89857711	89857711	A	ATACAAG	indel	intronic	 	 	 	 	FANCI	Fanci	ENSG00000140525	Fanconi anemia complementation group I	chr15:89787180-89860492	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	breast cancer 	 	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007095;mitotic G2 DNA damage checkpoint;IBA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0036297;interstrand cross-link repair;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCI	https://www.uniprot.org/uniprot/Q9NVI1	https://hpo.jax.org/app/browse/search?q=FANCI&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611360	http://www.informatics.jax.org/searchtool/Search.do?query=FANCI&submit=Quick%0D%8044ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCI	rs55725136	0.558506	0	0	1	0	0	intronic	intronic	intronic	FANCI	FANCI	ENSG00000140525	Na	Na	Na	Na	Na	Na	Het;+TACAAG	695;20|18	Hom;+TACAAG	1303;0|28
N	N	-	15	89864316	89864316	G	GCTAC	indel	intronic	 	 	 	 	POLG	Polg	ENSG00000140521	DNA polymerase gamma, catalytic subunit	chr15:89859534-89878092	Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	ophthalmoplegia Parkinson's disease; Chronic progressive external ophthalmoplegia|Ophthalmoplegia, Chronic Progressive External|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Parkinson's disease; Chronic renal failure|Kidney Failure, Chronic; Infertility, Male; neuropathy; lactic acidosis; Diffuse Cerebral Sclerosis of Schilder|Headache|Seizures|[D]Pain in head NOS; oligoasthenozoospermia; Chromosomal Instability|Friedreich Ataxia|; 46, XX Disorders of Sex Development|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; progressive external ophthalmoplegia; infertility, male, oligozoospermia, azoospermia; null; infertility, male; hypertension; Body Height; longevity; oligospermia; multiple sclerosis; Ophthalmoplegia, Chronic Progressive External; bladder cancer; HIV Infections|Lipodystrophy; Menopause; height; azoospermia oligospermia; ataxia (SCA); diabetes, type 1 ; Coronary Artery Disease; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous proof-reading deficient mutants display reduced life spans and premature aging with weight loss, decreased subcutaneous fat, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and enlarged hearts. Homozygous null mice display embryonic lethality.		GO:0006259;DNA metabolic process;TAS|GO:0006260;DNA replication;IEA|GO:0006261;DNA-dependent DNA replication;TAS|GO:0006264;mitochondrial DNA replication;IBA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0007568;aging;IEA|GO:0009416;response to light stimulus;IEA|GO:0010332;response to gamma radiation;IEA|GO:0055093;response to hyperoxia;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005739;mitochondrion;TAS|GO:0005760;gamma DNA polymerase complex;IEA|GO:0042645;mitochondrial nucleoid;IDA|GO:0043195;terminal bouton;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0008408;3'-5' exonuclease activity;IBA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLG	https://www.uniprot.org/uniprot/P54098	https://hpo.jax.org/app/browse/search?q=POLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=174763	http://www.informatics.jax.org/searchtool/Search.do?query=POLG&submit=Quick%0D%8042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLG	rs2307433	0.558307	0.5753	0.5007	1	0	0	intronic	intronic	intronic	POLG	POLG	ENSG00000140521	Na	Na	Na	Na	Na	Na	Het;+CTAC	1242;25|31	Hom;+CTAC	2461;0|55
N	N	-	15	89867154	89867154	A	G	snp	intronic	 	 	 	 	POLG	Polg	ENSG00000140521	DNA polymerase gamma, catalytic subunit	chr15:89859534-89878092	Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	ophthalmoplegia Parkinson's disease; Chronic progressive external ophthalmoplegia|Ophthalmoplegia, Chronic Progressive External|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Parkinson's disease; Chronic renal failure|Kidney Failure, Chronic; Infertility, Male; neuropathy; lactic acidosis; Diffuse Cerebral Sclerosis of Schilder|Headache|Seizures|[D]Pain in head NOS; oligoasthenozoospermia; Chromosomal Instability|Friedreich Ataxia|; 46, XX Disorders of Sex Development|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; progressive external ophthalmoplegia; infertility, male, oligozoospermia, azoospermia; null; infertility, male; hypertension; Body Height; longevity; oligospermia; multiple sclerosis; Ophthalmoplegia, Chronic Progressive External; bladder cancer; HIV Infections|Lipodystrophy; Menopause; height; azoospermia oligospermia; ataxia (SCA); diabetes, type 1 ; Coronary Artery Disease; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous proof-reading deficient mutants display reduced life spans and premature aging with weight loss, decreased subcutaneous fat, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and enlarged hearts. Homozygous null mice display embryonic lethality.		GO:0006259;DNA metabolic process;TAS|GO:0006260;DNA replication;IEA|GO:0006261;DNA-dependent DNA replication;TAS|GO:0006264;mitochondrial DNA replication;IBA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0007568;aging;IEA|GO:0009416;response to light stimulus;IEA|GO:0010332;response to gamma radiation;IEA|GO:0055093;response to hyperoxia;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005739;mitochondrion;TAS|GO:0005760;gamma DNA polymerase complex;IEA|GO:0042645;mitochondrial nucleoid;IDA|GO:0043195;terminal bouton;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0008408;3'-5' exonuclease activity;IBA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLG	https://www.uniprot.org/uniprot/P54098	https://hpo.jax.org/app/browse/search?q=POLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=174763	http://www.informatics.jax.org/searchtool/Search.do?query=POLG&submit=Quick%0D%8042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLG	rs2072267	0.547324	0.5769	0.4991	1	0	0	intronic	intronic	intronic	POLG	POLG	ENSG00000140521	Na	Na	Na	Na	Na	Na	Het;A>G	1080;40|48	Hom;A>G	2411;2|83
N	N	-	15	90245174	90245174	T	A	snp	nonsynonymous SNV	T197A	L66H	aliphatic,hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	WDR93	Wdr93	ENSG00000140527	WD repeat domain 93	chr15:90234028-90286869		Amyotrophic Lateral Sclerosis	 		GO:0022900;electron transport chain;IEA		GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR93	https://www.uniprot.org/uniprot/Q6P2C0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93	rs4287542	0.391973	0.4608	0.4089	0.08	1	13	exonic	exonic	exonic	WDR93	WDR93	ENSG00000140527	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR93:NM_001284395:exon2:c.T197A:p.L66H,WDR93:NM_001284396:exon2:c.T197A:p.L66H,WDR93:NM_020212:exon2:c.T197A:p.L66H,	WDR93:uc002bok.4:exon2:c.T197A:p.L66H,WDR93:uc002boj.3:exon2:c.T197A:p.L66H,WDR93:uc010bnr.3:exon2:c.T197A:p.L66H,	UNKNOWN	Het;T>A	513;45|28	Hom;T>A	2070;0|80
N	N	-	15	90245253	90245253	C	T	snp	synonymous SNV	C276T	T92T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	WDR93	Wdr93	ENSG00000140527	WD repeat domain 93	chr15:90234028-90286869		Amyotrophic Lateral Sclerosis	 		GO:0022900;electron transport chain;IEA		GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR93	https://www.uniprot.org/uniprot/Q6P2C0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93	rs4316730	0.396565	0.4652	0.4097	1	0	0	exonic	exonic	exonic	WDR93	WDR93	ENSG00000140527	synonymous SNV	synonymous SNV	unknown	WDR93:NM_001284395:exon2:c.C276T:p.T92T,WDR93:NM_001284396:exon2:c.C276T:p.T92T,WDR93:NM_020212:exon2:c.C276T:p.T92T,	WDR93:uc002bok.4:exon2:c.C276T:p.T92T,WDR93:uc002boj.3:exon2:c.C276T:p.T92T,WDR93:uc010bnr.3:exon2:c.C276T:p.T92T,	UNKNOWN	Het;C>T	562;54|31	Hom;C>T	1720;0|63
N	N	-	15	90245298	90245298	G	C	snp	intronic	 	 	 	 	WDR93	Wdr93	ENSG00000140527	WD repeat domain 93	chr15:90234028-90286869		Amyotrophic Lateral Sclerosis	 		GO:0022900;electron transport chain;IEA		GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR93	https://www.uniprot.org/uniprot/Q6P2C0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93	rs4306477	0.392971	0.4621	0.4091	1	0	0	intronic	intronic	intronic	WDR93	WDR93	ENSG00000140527	Na	Na	Na	Na	Na	Na	Het;G>C	391;39|21	Hom;G>C	1200;0|44
N	N	-	15	90246336	90246336	A	G	snp	synonymous SNV	A459G	L153L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	WDR93	Wdr93	ENSG00000140527	WD repeat domain 93	chr15:90234028-90286869		Amyotrophic Lateral Sclerosis	 		GO:0022900;electron transport chain;IEA		GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR93	https://www.uniprot.org/uniprot/Q6P2C0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93	rs16974175	0.392173	0.4608	0.4092	1	0	0	exonic	exonic	exonic	WDR93	WDR93	ENSG00000140527	synonymous SNV	synonymous SNV	unknown	WDR93:NM_001284395:exon3:c.A459G:p.L153L,WDR93:NM_001284396:exon3:c.A459G:p.L153L,WDR93:NM_020212:exon3:c.A459G:p.L153L,	WDR93:uc002bok.4:exon3:c.A459G:p.L153L,WDR93:uc002boj.3:exon3:c.A459G:p.L153L,WDR93:uc010bnr.3:exon3:c.A459G:p.L153L,	UNKNOWN	Het;A>G	2073;80|89	Hom;A>G	4775;3|168
N	N	-	15	90260145	90260145	T	A	snp	nonsynonymous SNV	T760A	S254T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	WDR93	Wdr93	ENSG00000140527	WD repeat domain 93	chr15:90234028-90286869		Amyotrophic Lateral Sclerosis	 		GO:0022900;electron transport chain;IEA		GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR93	https://www.uniprot.org/uniprot/Q6P2C0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93	rs7163367	0.3752	0.4510	0.3914	0.08	1	13	exonic	exonic	exonic	WDR93	WDR93	ENSG00000140527	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR93:NM_001284395:exon7:c.T760A:p.S254T,WDR93:NM_020212:exon7:c.T760A:p.S254T,	WDR93:uc002boj.3:exon7:c.T760A:p.S254T,WDR93:uc010bnr.3:exon7:c.T760A:p.S254T,	UNKNOWN	Het;T>A	574;27|29	Hom;T>A	1362;2|57
N	N	-	15	90270567	90270567	T	C	snp	intronic	 	 	 	 	WDR93	Wdr93	ENSG00000140527	WD repeat domain 93	chr15:90234028-90286869		Amyotrophic Lateral Sclerosis	 		GO:0022900;electron transport chain;IEA		GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR93	https://www.uniprot.org/uniprot/Q6P2C0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93	rs3743117	0.375998	0.4557	0.4046	1	0	0	intronic	intronic	intronic	WDR93	WDR93	ENSG00000140527	Na	Na	Na	Na	Na	Na	Het;T>C	327;24|15	Hom;T>C	1061;0|35
N	N	-	15	90270659	90270659	T	C	snp	intronic	 	 	 	 	WDR93	Wdr93	ENSG00000140527	WD repeat domain 93	chr15:90234028-90286869		Amyotrophic Lateral Sclerosis	 		GO:0022900;electron transport chain;IEA		GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR93	https://www.uniprot.org/uniprot/Q6P2C0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93	rs7176252	0.377196	0	0	1	0	0	intronic	intronic	intronic	WDR93	WDR93	ENSG00000140527	Na	Na	Na	Na	Na	Na	Het;T>C	104;8|4	Hom;T>C	398;0|10
N	N	-	15	90293701	90293701	G	A	snp	intronic	 	 	 	 	MESP1	Mesp1	ENSG00000166823	mesoderm posterior bHLH transcription factor 1	chr15:90291892-90294541			Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects.		GO:0001707;mesoderm formation;IBA|GO:0001756;somitogenesis;IBA|GO:0001947;heart looping;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003210;cardiac atrium formation;IMP|GO:0003211;cardiac ventricle formation;IMP|GO:0003236;sinus venosus morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003259;cardioblast anterior-lateral migration;IEA|GO:0003260;cardioblast migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008078;mesodermal cell migration;IEA|GO:0009880;embryonic pattern specification;IBA|GO:0022008;neurogenesis;IMP|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0035481;positive regulation of Notch signaling pathway involved in heart induction;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042664;negative regulation of endodermal cell fate specification;IEA|GO:0045446;endothelial cell differentiation;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048368;lateral mesoderm development;IEA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:0055007;cardiac muscle cell differentiation;IMP|GO:0060913;cardiac cell fate determination;IEA|GO:0060921;sinoatrial node cell differentiation;IMP|GO:0060947;cardiac vascular smooth muscle cell differentiation;IMP|GO:0060975;cardioblast migration to the midline involved in heart field formation;IEA|GO:0070368;positive regulation of hepatocyte differentiation;IEA|GO:0090082;positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway;IEA	GO:0005634;nucleus;IC	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0035326;enhancer binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MESP1			https://www.ncbi.nlm.nih.gov/omim/?term=608689	http://www.informatics.jax.org/searchtool/Search.do?query=MESP1&submit=Quick%0D%11874ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MESP1	rs2305442	0.194289	0.2118	0.3319	1	0	0	intronic	intronic	intronic	MESP1	MESP1	ENSG00000166823	Na	Na	Na	Na	Na	Na	Het;G>A	38;7|4	Hom;G>A	129;0|5
N	N	-	15	90294304	90294304	C	CG	indel	frameshift substitution	159_159delinsCG	 	 	 	MESP1	Mesp1	ENSG00000166823	mesoderm posterior bHLH transcription factor 1	chr15:90291892-90294541			Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects.		GO:0001707;mesoderm formation;IBA|GO:0001756;somitogenesis;IBA|GO:0001947;heart looping;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003210;cardiac atrium formation;IMP|GO:0003211;cardiac ventricle formation;IMP|GO:0003236;sinus venosus morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003259;cardioblast anterior-lateral migration;IEA|GO:0003260;cardioblast migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008078;mesodermal cell migration;IEA|GO:0009880;embryonic pattern specification;IBA|GO:0022008;neurogenesis;IMP|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0035481;positive regulation of Notch signaling pathway involved in heart induction;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042664;negative regulation of endodermal cell fate specification;IEA|GO:0045446;endothelial cell differentiation;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048368;lateral mesoderm development;IEA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:0055007;cardiac muscle cell differentiation;IMP|GO:0060913;cardiac cell fate determination;IEA|GO:0060921;sinoatrial node cell differentiation;IMP|GO:0060947;cardiac vascular smooth muscle cell differentiation;IMP|GO:0060975;cardioblast migration to the midline involved in heart field formation;IEA|GO:0070368;positive regulation of hepatocyte differentiation;IEA|GO:0090082;positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway;IEA	GO:0005634;nucleus;IC	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0035326;enhancer binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MESP1			https://www.ncbi.nlm.nih.gov/omim/?term=608689	http://www.informatics.jax.org/searchtool/Search.do?query=MESP1&submit=Quick%0D%11874ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MESP1	rs759335947	0	0.0232	0.0957	1	0	0	exonic	exonic	exonic	MESP1	MESP1	ENSG00000166823	frameshift substitution	frameshift substitution	unknown	MESP1:NM_018670:exon1:c.159_159delinsCG,	MESP1:uc002bol.3:exon1:c.159_159delinsCG,	UNKNOWN	Het;+G	73;5|3	Hom;+G	282;0|8
N	N	-	15	90294306	90294306	C	CACGGGGCTCGG	indel	frameshift substitution	157_157delinsCCGAGCCCCGTG	 	 	 	MESP1	Mesp1	ENSG00000166823	mesoderm posterior bHLH transcription factor 1	chr15:90291892-90294541			Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects.		GO:0001707;mesoderm formation;IBA|GO:0001756;somitogenesis;IBA|GO:0001947;heart looping;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003210;cardiac atrium formation;IMP|GO:0003211;cardiac ventricle formation;IMP|GO:0003236;sinus venosus morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003259;cardioblast anterior-lateral migration;IEA|GO:0003260;cardioblast migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008078;mesodermal cell migration;IEA|GO:0009880;embryonic pattern specification;IBA|GO:0022008;neurogenesis;IMP|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0035481;positive regulation of Notch signaling pathway involved in heart induction;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042664;negative regulation of endodermal cell fate specification;IEA|GO:0045446;endothelial cell differentiation;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048368;lateral mesoderm development;IEA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:0055007;cardiac muscle cell differentiation;IMP|GO:0060913;cardiac cell fate determination;IEA|GO:0060921;sinoatrial node cell differentiation;IMP|GO:0060947;cardiac vascular smooth muscle cell differentiation;IMP|GO:0060975;cardioblast migration to the midline involved in heart field formation;IEA|GO:0070368;positive regulation of hepatocyte differentiation;IEA|GO:0090082;positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway;IEA	GO:0005634;nucleus;IC	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0035326;enhancer binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MESP1			https://www.ncbi.nlm.nih.gov/omim/?term=608689	http://www.informatics.jax.org/searchtool/Search.do?query=MESP1&submit=Quick%0D%11874ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MESP1	rs763577487	0	0.2804	0.0640	1	0	0	exonic	exonic	exonic	MESP1	MESP1	ENSG00000166823	frameshift substitution	frameshift substitution	unknown	MESP1:NM_018670:exon1:c.157_157delinsCCGAGCCCCGTG,	MESP1:uc002bol.3:exon1:c.157_157delinsCCGAGCCCCGTG,	UNKNOWN	Het;+ACGGGGCTCGG	231;5|7	Hom;+ACGGGGCTCGG	346;0|8
N	N	-	15	90295960	90295960	C	T	snp	ncRNA_exonic	 	 	 	 	AC079075.1																		rs12898229	0.285343	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MESP1(dist=1420),MESP2(dist=23629)	MESP1(dist=1420),MESP2(dist=7862)	ENSG00000259441	Na	Na	Na	Na	Na	Na	Het;C>T	129;5|6	Hom;C>T	383;0|14
N	N	-	15	90333616	90333616	T	C	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs8192299	0.311701	0	0	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;T>C	336;2|14	Hom;T>C	630;0|20
N	N	-	15	90333654	90333654	A	T	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs8192298	0.309105	0.3273	0.2965	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;A>T	493;21|26	Hom;A>T	1131;0|42
N	N	-	15	90334240	90334240	A	G	snp	synonymous SNV	T2613C	I871I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs25654	0.313498	0.3322	0.2979	1	0	0	exonic	exonic	exonic	ANPEP	ANPEP	ENSG00000166825	synonymous SNV	synonymous SNV	unknown	ANPEP:NM_001150:exon19:c.T2613C:p.I871I,	ANPEP:uc002bop.4:exon19:c.T2613C:p.I871I,	UNKNOWN	Het;A>G	993;66|52	Hom;A>G	3080;1|113
N	N	-	15	90334345	90334345	C	G	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs7168329	0.309105	0.3274	0.2971	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;C>G	861;41|39	Hom;C>G	2105;2|77
N	N	-	15	90334415	90334415	A	G	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs7169161	0.350439	0	0	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;A>G	510;15|20	Hom;A>G	690;0|24
N	N	-	15	90335379	90335379	G	C	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs8179197	0.310503	0.3293	0.3004	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;G>C	570;27|25	Hom;G>C	1520;0|52
N	N	-	15	90335534	90335534	G	A	snp	synonymous SNV	C2385T	T795T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs25652	0.252196	0.2622	0.2457	1	0	0	exonic	exonic	exonic	ANPEP	ANPEP	ENSG00000166825	synonymous SNV	synonymous SNV	unknown	ANPEP:NM_001150:exon18:c.C2385T:p.T795T,	ANPEP:uc002bop.4:exon18:c.C2385T:p.T795T,	UNKNOWN	Het;G>A	903;73|49	Hom;G>A	2398;0|89
N	N	-	15	90335788	90335788	C	T	snp	nonsynonymous SNV	G2255A	S752N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs25651	0.350639	0.3754	0.3099	0.15	2	13	exonic	exonic	exonic	ANPEP	ANPEP	ENSG00000166825	nonsynonymous SNV	nonsynonymous SNV	unknown	ANPEP:NM_001150:exon17:c.G2255A:p.S752N,	ANPEP:uc002bop.4:exon17:c.G2255A:p.S752N,	UNKNOWN	Het;C>T	716;49|38	Hom;C>T	1950;2|76
N	N	-	15	90335913	90335913	A	G	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs28760317	0.338858	0	0	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;A>G	218;2|6	Hom;A>G	442;0|11
N	N	-	15	90335919	90335919	G	C	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs28493892	0.339457	0	0	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;G>C	218;1|6	Hom;G>C	442;0|9
N	N	-	15	90336373	90336373	T	C	snp	intronic	 	 	 	 	ANPEP	Anpep	ENSG00000166825	alanyl aminopeptidase, membrane	chr15:90328120-90358633	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer	Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation.	Neutrophil degranulation	GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANPEP			https://www.ncbi.nlm.nih.gov/omim/?term=151530	http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP	rs16943605	0.346246	0.3662	0.3082	1	0	0	intronic	intronic	intronic	ANPEP	ANPEP	ENSG00000166825	Na	Na	Na	Na	Na	Na	Het;T>C	361;5|14	Hom;T>C	1132;0|42
N	N	-	15	90837721	90837721	T	C	snp	downstream	 	 	 	 	DQ578199																		rs1810246	0.808506	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	NGRN(dist=22278),GABARAPL3(dist=52042)	DQ578199	ENSG00000214433	Na	Na	Na	Na	Na	Na	Het;T>C	974;20|38	Hom;T>C	1771;0|62
N	N	-	15	91424574	91424574	G	C	snp	synonymous SNV	G1851C	G617G	aliphatic,neutral	aliphatic,neutral	FURIN	Furin	ENSG00000140564	furin, paired basic amino acid cleaving enzyme	chr15:91411822-91426688	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. The product of this gene is one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140 and may play a role in tumor progression. This gene is located in close proximity to family member proprotein convertase subtilisin/kexin type 6 and upstream of the FES oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Hepatitis B, Chronic|Liver Cirrhosis; colorectal cancer; hypertension; Type 2 Diabetes| edema | rosiglitazone; blood pressure	Homozygous null embryos die at E10.5-E11.5. Embryos homozygous for one knock-out allele show multiple tissue abnormalities including abnormal yolk sac vasculature and chorioallantoic fusion, failure of axial rotation, a kinked neural tube, exencephaly and severe ventral closure and cardiac defects.	Amyloid fiber formation	GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0008283;cell proliferation;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0019082;viral protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IMP|GO:0032455;nerve growth factor processing;TAS|GO:0032804;negative regulation of low-density lipoprotein particle receptor catabolic process;IDA|GO:0032902;nerve growth factor production;IDA|GO:0032911;negative regulation of transforming growth factor beta1 production;IMP|GO:0032940;secretion by cell;IDA|GO:0042176;regulation of protein catabolic process;IMP|GO:0043043;peptide biosynthetic process;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045714;regulation of low-density lipoprotein particle receptor biosynthetic process;IEA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IC|GO:0052548;regulation of endopeptidase activity;IDA|GO:0070268;cornification;TAS|GO:0090472;dibasic protein processing;IMP	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IGI|GO:0005794;Golgi apparatus;IEA|GO:0005796;Golgi lumen;TAS|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030140;trans-Golgi network transport vesicle;IDA|GO:0045121;membrane raft;IDA|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IPI|GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IDA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FURIN	https://www.uniprot.org/uniprot/P09958		https://www.ncbi.nlm.nih.gov/omim/?term=136950	http://www.informatics.jax.org/searchtool/Search.do?query=FURIN&submit=Quick%0D%8055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FURIN	rs6226	0.721845	0.7640	0.6810	1	0	0	exonic	exonic	exonic	FURIN	FURIN	ENSG00000140564	synonymous SNV	synonymous SNV	unknown	FURIN:NM_001289823:exon16:c.G1851C:p.G617G,FURIN:NM_002569:exon16:c.G1851C:p.G617G,FURIN:NM_001289824:exon16:c.G1851C:p.G617G,	FURIN:uc002bpu.1:exon16:c.G1851C:p.G617G,	UNKNOWN	Het;G>C	2879;114|128	Hom;G>C	6418;0|239
N	N	-	15	91427872	91427872	G	C	snp	intronic	 	 	 	 	FES	Fes	ENSG00000182511	FES proto-oncogene, tyrosine kinase	chr15:91426925-91439006	This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]	Lymphoproliferative Disorders|Myelodysplastic Syndromes; Type 2 Diabetes| edema | rosiglitazone; myeloid leukemia; Hypertension; Blood Pressure	Homozygotes for a null allele show partial in utero lethality, runting, altered hematopoietic homeostasis and macrophage function, skin lesions and susceptibility to bacterial infection. Homozygotes for another null allele show enhanced LPS sensitivity, altered hematopoiesis and larger litter size.	CRMPs in Sema3A signaling	GO:0001578;microtubule bundle formation;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006935;chemotaxis;IBA|GO:0007173;epidermal growth factor receptor signaling pathway;IBA|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0008360;regulation of cell shape;IMP|GO:0010976;positive regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030155;regulation of cell adhesion;IMP|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IMP|GO:0043304;regulation of mast cell degranulation;IMP|GO:0045087;innate immune response;IBA|GO:0045595;regulation of cell differentiation;IMP|GO:0045639;positive regulation of myeloid cell differentiation;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:2000145;regulation of cell motility;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008289;lipid binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0034987;immunoglobulin receptor binding;IDA|GO:0035091;phosphatidylinositol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FES			https://www.ncbi.nlm.nih.gov/omim/?term=190030	http://www.informatics.jax.org/searchtool/Search.do?query=FES&submit=Quick%0D%14801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FES	rs35346340	0.22524	0	0	1	0	0	intronic	intronic	intronic	FES	FES	ENSG00000182511	Na	Na	Na	Na	Na	Na	Het;G>C	53;2|4	Hom;G>C	71;0|4
N	N	-	15	91428521	91428522	CT	C	indel	unknown	 	 	 	 	FES	Fes	ENSG00000182511	FES proto-oncogene, tyrosine kinase	chr15:91426925-91439006	This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]	Lymphoproliferative Disorders|Myelodysplastic Syndromes; Type 2 Diabetes| edema | rosiglitazone; myeloid leukemia; Hypertension; Blood Pressure	Homozygotes for a null allele show partial in utero lethality, runting, altered hematopoietic homeostasis and macrophage function, skin lesions and susceptibility to bacterial infection. Homozygotes for another null allele show enhanced LPS sensitivity, altered hematopoiesis and larger litter size.	CRMPs in Sema3A signaling	GO:0001578;microtubule bundle formation;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006935;chemotaxis;IBA|GO:0007173;epidermal growth factor receptor signaling pathway;IBA|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0008360;regulation of cell shape;IMP|GO:0010976;positive regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030155;regulation of cell adhesion;IMP|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IMP|GO:0043304;regulation of mast cell degranulation;IMP|GO:0045087;innate immune response;IBA|GO:0045595;regulation of cell differentiation;IMP|GO:0045639;positive regulation of myeloid cell differentiation;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:2000145;regulation of cell motility;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008289;lipid binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0034987;immunoglobulin receptor binding;IDA|GO:0035091;phosphatidylinositol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FES			https://www.ncbi.nlm.nih.gov/omim/?term=190030	http://www.informatics.jax.org/searchtool/Search.do?query=FES&submit=Quick%0D%14801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FES	rs11330240	0.254792	0.3445	0.2929	1	0	0	intronic	intronic	exonic	FES	FES	ENSG00000182511	Na	Na	unknown	Na	Na	UNKNOWN	Het;-T	639;19|20	Hom;-T	1056;0|27
N	N	-	15	91437388	91437388	A	T	snp	intronic	 	 	 	 	FES	Fes	ENSG00000182511	FES proto-oncogene, tyrosine kinase	chr15:91426925-91439006	This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]	Lymphoproliferative Disorders|Myelodysplastic Syndromes; Type 2 Diabetes| edema | rosiglitazone; myeloid leukemia; Hypertension; Blood Pressure	Homozygotes for a null allele show partial in utero lethality, runting, altered hematopoietic homeostasis and macrophage function, skin lesions and susceptibility to bacterial infection. Homozygotes for another null allele show enhanced LPS sensitivity, altered hematopoiesis and larger litter size.	CRMPs in Sema3A signaling	GO:0001578;microtubule bundle formation;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006935;chemotaxis;IBA|GO:0007173;epidermal growth factor receptor signaling pathway;IBA|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0008360;regulation of cell shape;IMP|GO:0010976;positive regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030155;regulation of cell adhesion;IMP|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IMP|GO:0043304;regulation of mast cell degranulation;IMP|GO:0045087;innate immune response;IBA|GO:0045595;regulation of cell differentiation;IMP|GO:0045639;positive regulation of myeloid cell differentiation;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:2000145;regulation of cell motility;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008289;lipid binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0034987;immunoglobulin receptor binding;IDA|GO:0035091;phosphatidylinositol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FES			https://www.ncbi.nlm.nih.gov/omim/?term=190030	http://www.informatics.jax.org/searchtool/Search.do?query=FES&submit=Quick%0D%14801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FES	rs2521501	0.212859	0	0	1	0	0	intronic	intronic	intronic	FES	FES	ENSG00000182511	Na	Na	Na	Na	Na	Na	Het;A>T	127;18|7	Hom;A>T	461;1|15
N	N	-	15	92037756	92037756	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101926928																		rs60694590	0.486222	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101926928	BC036442	ENSG00000258551	Na	Na	Na	Na	Na	Na	Het;T>C	1667;68|76	Hom;T>C	4253;0|145
N	N	-	15	92765130	92765130	A	C	snp	ncRNA_intronic	 	 	 	 	AC116903.2																		rs4778074	0.646965	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	SLCO3A1(dist=49465),ST8SIA2(dist=172010)	SLCO3A1(dist=49465),ST8SIA2(dist=172010)	ENSG00000260661	Na	Na	Na	Na	Na	Na	Het;A>C	161;3|7	Hom;A>C	399;0|16
N	N	-	15	93013560	93013560	A	G	snp	ncRNA_exonic	 	 	 	 	LOC104613533																		rs2279447	0.307508	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC104613533	ST8SIA2(dist=1602),C15orf32(dist=1347)	ENSG00000259170	Na	Na	Na	Na	Na	Na	Het;A>G	1515;95|76	Hom;A>G	4868;0|182
N	N	-	15	93014483	93014483	C	T	snp	ncRNA_exonic	 	 	 	 	LOC104613533																		rs897466	0.782548	0	0	1	0	0	ncRNA_exonic	upstream	ncRNA_exonic	LOC104613533	C15orf32	ENSG00000259170	Na	Na	Na	Na	Na	Na	Het;C>T	196;19|9	Hom;C>T	607;0|21
N	N	-	15	93043545	93043545	T	G	snp	intronic	 	 	 	 	C15orf32																		rs7178722	0.551118	0.5852	0.4713	1	0	0	intronic	intronic	intronic	C15orf32	C15orf32	ENSG00000183643	Na	Na	Na	Na	Na	Na	Het;T>G	186;8|10	Hom;T>G	737;0|27
N	N	-	15	93111310	93111310	T	A	snp	ncRNA_exonic	 	 	 	 	LINC00930																		rs11853255	0.576478	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;T>A	127;10|7	Hom;T>A	436;0|15
N	N	-	15	93111458	93111458	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00930																		rs11855589	0.576478	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;G>A	1110;106|62	Hom;G>A	2966;2|115
N	N	-	15	93111587	93111587	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00930																		rs1826853	0.83107	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;A>G	166;18|9	Hom;A>G	746;0|23
N	N	-	15	93113925	93113925	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00930																		rs2047343	0.829273	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;C>A	1377;54|67	Hom;C>A	2761;0|103
N	N	-	15	93114426	93114426	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00930																		rs1563366	0.605631	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;G>C	191;24|12	Hom;G>C	682;0|26
N	N	-	15	93114451	93114464	TCGCCCCTGGAAAC	T	indel	ncRNA_exonic	 	 	 	 	LINC00930																		rs6145684	0.605631	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;-CGCCCCTGGAAAC	602;39|18	Hom;-CGCCCCTGGAAAC	1429;0|33
N	N	-	15	93115197	93115197	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00930																		rs285700	0.830272	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;A>G	888;52|39	Hom;A>G	2348;1|80
N	N	-	15	93115240	93115240	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00930																		rs4778013	0.54393	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00930	LINC00930	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;G>A	1232;48|54	Hom;G>A	2695;1|92
N	N	-	15	93115494	93115494	T	C	snp	ncRNA_exonic	 	 	 	 	DQ599989																		rs285701	0.832468	0	0	1	0	0	upstream	ncRNA_exonic	upstream	LINC00930	DQ599989	ENSG00000258647	Na	Na	Na	Na	Na	Na	Het;T>C	815;22|36	Hom;T>C	1831;0|66
N	N	-	15	93290947	93290947	C	CT	indel	intronic	 	 	 	 	FAM174B	Fam174b	ENSG00000185442	family with sequence similarity 174 member B	chr15:93160673-93353114		HIV-1	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM174B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM174B&submit=Quick%0D%15416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM174B	rs34820691	0.446885	0	0	1	0	0	intergenic	intergenic	intronic	FAM174B(dist=91916),ASB9P1(dist=47767)	NONE(dist=NONE),ASB9P1(dist=47767)	ENSG00000185442	Na	Na	Na	Na	Na	Na	Het;+T	65;1|4	Hom;+T	82;0|4
N	N	-	15	93563164	93563164	C	CA	indel	intronic	 	 	 	 	CHD2	Chd2	ENSG00000173575	chromodomain helicase DNA binding protein 2	chr15:93426526-93571237	The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hypertension; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation.  Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007517;muscle organ development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;ISS|GO:0003677;DNA binding;TAS|GO:0003723;RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042393;histone binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CHD2		https://hpo.jax.org/app/browse/search?q=CHD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602119	http://www.informatics.jax.org/searchtool/Search.do?query=CHD2&submit=Quick%0D%13385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD2	rs771761540	0	0	0	1	0	0	intronic	intronic	intronic	CHD2	CHD2	ENSG00000173575	Na	Na	Na	Na	Na	Na	Het;+A	307;15|21	Hom;+A	656;1|29
N	N	-	15	93595855	93595855	T	C	snp	intronic	 	 	 	 	RGMA	Rgma	ENSG00000182175	repulsive guidance molecule family member a	chr15:93586636-93632433	This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Basophils; Blood Pressure; multiple sclerosis; Body Height; Body Weights and Measures; depression	Inactivation of this locus results in impaired cephalic closure and subsequent exencephaly, both with incomplete penetrance. The retinal topography of the visual system is normal in homozygous mutant mice.	Netrin-1 signaling	GO:0001843;neural tube closure;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030509;BMP signaling pathway;IBA|GO:0030510;regulation of BMP signaling pathway;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IEA|GO:1900121;negative regulation of receptor binding;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;IBA|GO:1990459;transferrin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGMA			https://www.ncbi.nlm.nih.gov/omim/?term=607362	http://www.informatics.jax.org/searchtool/Search.do?query=RGMA&submit=Quick%0D%14735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGMA	rs1997382	0.654353	0	0	1	0	0	intronic	intronic	intronic	RGMA	RGMA	ENSG00000182175	Na	Na	Na	Na	Na	Na	Het;T>C	61;7|4	Hom;T>C	324;0|12
N	N	-	15	93632123	93632123	T	C	snp	intronic	 	 	 	 	RGMA	Rgma	ENSG00000182175	repulsive guidance molecule family member a	chr15:93586636-93632433	This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Basophils; Blood Pressure; multiple sclerosis; Body Height; Body Weights and Measures; depression	Inactivation of this locus results in impaired cephalic closure and subsequent exencephaly, both with incomplete penetrance. The retinal topography of the visual system is normal in homozygous mutant mice.	Netrin-1 signaling	GO:0001843;neural tube closure;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030509;BMP signaling pathway;IBA|GO:0030510;regulation of BMP signaling pathway;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IEA|GO:1900121;negative regulation of receptor binding;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;IBA|GO:1990459;transferrin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGMA			https://www.ncbi.nlm.nih.gov/omim/?term=607362	http://www.informatics.jax.org/searchtool/Search.do?query=RGMA&submit=Quick%0D%14735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGMA	rs8038770	0.491813	0.2922	0.4800	1	0	0	intronic	intronic	intronic	RGMA	RGMA	ENSG00000182175	Na	Na	Na	Na	Na	Na	Het;T>C	81;7|6	Hom;T>C	435;0|17
N	N	-	15	94842037	94842037	A	G	snp	intronic	 	 	 	 	MCTP2	Mctp2	ENSG00000140563	multiple C2 and transmembrane domain containing 2	chr15:94774767-95023632		Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition	 		GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0005509;calcium ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCTP2	https://www.uniprot.org/uniprot/Q6DN12	https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616297	http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2	rs9806303	0.882987	0	0	1	0	0	intronic	intronic	intronic	MCTP2	MCTP2	ENSG00000140563	Na	Na	Na	Na	Na	Na	Het;A>G	142;15|6	Hom;A>G	297;0|8
N	N	-	15	94858889	94858889	T	G	snp	intronic	 	 	 	 	MCTP2	Mctp2	ENSG00000140563	multiple C2 and transmembrane domain containing 2	chr15:94774767-95023632		Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition	 		GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0005509;calcium ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCTP2	https://www.uniprot.org/uniprot/Q6DN12	https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616297	http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2	rs12101974	0.299121	0.2533	0.3328	1	0	0	intronic	intronic	intronic	MCTP2	MCTP2	ENSG00000140563	Na	Na	Na	Na	Na	Na	Het;T>G	983;45|46	Hom;T>G	1855;1|67
N	N	-	15	94858980	94858980	G	A	snp	intronic	 	 	 	 	MCTP2	Mctp2	ENSG00000140563	multiple C2 and transmembrane domain containing 2	chr15:94774767-95023632		Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition	 		GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0005509;calcium ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCTP2	https://www.uniprot.org/uniprot/Q6DN12	https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616297	http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2	rs8024196	0.349441	0	0	1	0	0	intronic	intronic	intronic	MCTP2	MCTP2	ENSG00000140563	Na	Na	Na	Na	Na	Na	Het;G>A	126;9|6	Hom;G>A	451;0|14
N	N	-	15	95398665	95398666	AG	A	indel	ncRNA_exonic	 	 	 	 	LOC440311																		rs3840026	0.719848	0	0	1	0	0	ncRNA_exonic	UTR5	upstream;downstream	LOC440311	LOC440311(uc031quc.1:c.-38_-37delinsA)	ENSG00000260521;ENSG00000270017	Na	Na	Na	Na	Na	Na	Het;-G	1512;52|46	Hom;-G	4758;0|119
N	N	-	15	95399291	95399291	A	C	snp	nonsynonymous SNV	A589C	I197L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC440311																		rs12591416	0.835663	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC440311	LOC440311	ENSG00000260521	Na	nonsynonymous SNV	Na	Na	LOC440311:uc031quc.1:exon1:c.A589C:p.I197L,	Na	Het;A>C	2224;128|105	Hom;A>C	5221;0|174
N	N	-	15	95399686	95399686	A	G	snp	ncRNA_exonic	 	 	 	 	LOC440311																		rs28414103	0.836661	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440311	LOC440311(uc031quc.1:c.*354A>G)	ENSG00000260521	Na	Na	Na	Na	Na	Na	Het;A>G	1103;28|50	Hom;A>G	2892;0|97
N	N	-	15	95399982	95399982	A	T	snp	ncRNA_exonic	 	 	 	 	LOC440311																		rs11631484	0.560503	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440311	LOC440311(uc031quc.1:c.*650A>T)	ENSG00000260521,ENSG00000270017	Na	Na	Na	Na	Na	Na	Het;A>T	2348;100|106	Hom;A>T	4826;0|181
N	N	-	15	95400013	95400013	G	A	snp	ncRNA_exonic	 	 	 	 	LOC440311																		rs11631624	0.817891	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440311	LOC440311(uc031quc.1:c.*681G>A)	ENSG00000260521,ENSG00000270017	Na	Na	Na	Na	Na	Na	Het;G>A	1912;102|89	Hom;G>A	4247;0|151
N	N	-	15	95450131	95450131	G	A	snp	intergenic	 	 	 	 	AC107976.2																		rs1448642	0.735823	0	0	1	0	0	intergenic	intergenic	intergenic	LOC440311(dist=49838),LINC01197(dist=372388)	LOC440311(dist=49838),LOC400456(dist=372388)	ENSG00000270017(dist=49891),ENSG00000258433(dist=127482)	Na	Na	Na	Na	Na	Na	Het;G>A	375;40|23	Hom;G>A	2401;1|92
N	N	-	15	96050457	96050457	A	C	snp	ncRNA_exonic	 	 	 	 	LINC00924																		rs112956900	0.152157	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00924	LINC00924	ENSG00000259134	Na	Na	Na	Na	Na	Na	Het;A>C	248;7|10	Hom;A>C	577;0|20
N	N	-	15	96051163	96051163	C	T	snp	downstream	 	 	 	 	LINC00924																		rs71396816	0.181709	0	0	1	0	0	downstream	downstream	downstream	LINC00924	LINC00924	ENSG00000259134	Na	Na	Na	Na	Na	Na	Het;C>T	61;3|3	Hom;C>T	149;0|5
N	N	-	15	96670608	96670608	T	C	snp	ncRNA_exonic	 	 	 	 	NR2F2-AS1																		rs4500672	0.848842	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	NR2F2-AS1	JA429839(dist=54947),NR2F2-AS1(dist=139008)	ENSG00000247809	Na	Na	Na	Na	Na	Na	Het;T>C	373;18|17	Hom;T>C	858;0|33
N	N	-	15	96670669	96670669	A	T	snp	ncRNA_intronic	 	 	 	 	NR2F2-AS1																		rs4258560	0.842851	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	NR2F2-AS1	JA429839(dist=55008),NR2F2-AS1(dist=138947)	ENSG00000247809	Na	Na	Na	Na	Na	Na	Het;A>T	248;18|14	Hom;A>T	847;0|33
N	N	-	15	97628251	97628251	T	G	snp	intergenic	 	 	 	 	RN7SKP181																		rs9972544	0.794728	0	0	1	0	0	intergenic	intergenic	intergenic	SPATA8(dist=299406),LOC101927286(dist=285350)	SPATA8(dist=299406),Metazoa_SRP(dist=268476)	ENSG00000223120(dist=242637),ENSG00000215948(dist=6241)	Na	Na	Na	Na	Na	Na	Het;T>G	384;13|21	Hom;T>G	1462;0|49
N	N	-	15	98351696	98351696	G	A	snp	ncRNA_intronic	 	 	 	 	LINC00923																		rs4572368	0.645767	0	0	1	0	0	ncRNA_intronic	intronic	intronic	LINC00923	LINC00923	ENSG00000251209	Na	Na	Na	Na	Na	Na	Het;G>A	80;4|5	Hom;G>A	360;0|13
N	N	-	15	98351721	98351721	C	T	snp	ncRNA_intronic	 	 	 	 	LINC00923																		rs4476156	0.646765	0	0	1	0	0	ncRNA_intronic	intronic	intronic	LINC00923	LINC00923	ENSG00000251209	Na	Na	Na	Na	Na	Na	Het;C>T	146;8|8	Hom;C>T	636;0|24
N	N	-	15	99467934	99467934	A	C	snp	intronic	 	 	 	 	IGF1R	Igf1r	ENSG00000140443	insulin like growth factor 1 receptor	chr15:99192200-99507759	This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]	premature pubarche; chronic obstructive pulmonary disease; intrauterine growth restriction; retinopathy of prematurity; prostate cancer; head and neck cancer; plasma HDL cholesterol (HDL-C) levels; bladder cancer; Brain Neoplasms|; kidney aging; Bone Diseases|Multiple Myeloma; Coronary Artery Disease; Hypertension; Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance|Metabolic Syndrome X; Iron; human longevity; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Breast Neoplasms|Mammary Neoplasms; Bone Mineral Density; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Obesity; hypertension; Respiratory Function Tests; bacteremia; diabetes, type 2; obesity; male longevity ; Abortion, Spontaneous; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; longevity; Alcoholism; Body Height; Alzheimer's disease dementia; breast cancer|prostate cancer; lung cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; lung cancer ; left ventricular mass in male athletes; Sleep; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; Birth Weight|Retinopathy of Prematurity; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer; schizophrenia; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer ; null; Chronic renal failure|Kidney Failure, Chronic; colorectal cancer; Lymphoma, Non-Hodgkin; esophageal adenocarcinoma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; birth weight; diabetes, type 2; Multiple Myeloma; Colonic Neoplasms|Microsatellite Instability; obesity; Alzheimer's disease ; epithelial ovarian cancer ; Stomach Neoplasms; Spinal Diseases; healthy oldest-old; cutaneous squamous cell carcinoma; breast cancer ; blood pressure, arterial	Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia.	SHC-related events triggered by IGF1R	GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;IMP|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014065;phosphatidylinositol 3-kinase signaling;IC|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045740;positive regulation of DNA replication;IMP|GO:0046328;regulation of JNK cascade;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048009;insulin-like growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IDA|GO:0051262;protein tetramerization;IDA|GO:0051389;inactivation of MAPKK activity;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035867;alphav-beta3 integrin-IGF-1-IGF1R complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005010;insulin-like growth factor-activated receptor activity;IDA|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IGF1R	https://www.uniprot.org/uniprot/P08069	https://hpo.jax.org/app/browse/search?q=IGF1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147370	http://www.informatics.jax.org/searchtool/Search.do?query=IGF1R&submit=Quick%0D%8022ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF1R	rs1464430	0.402756	0.4224	0.3443	1	0	0	intronic	intronic	intronic	IGF1R	IGF1R	ENSG00000140443	Na	Na	Na	Na	Na	Na	Het;A>C	97;10|7	Hom;A>C	421;0|14
N	N	-	15	99511873	99511873	G	A	snp	nonsynonymous SNV	C425T	A142V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PGPEP1L	Pgpep1l	ENSG00000183571	pyroglutamyl-peptidase I-like	chr15:99511459-99551024		Glucose	 		GO:0006508;proteolysis;IEA	GO:0005829;cytosol;IBA	GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016920;pyroglutamyl-peptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PGPEP1L				http://www.informatics.jax.org/searchtool/Search.do?query=PGPEP1L&submit=Quick%0D%15013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PGPEP1L	rs2715423	0.127396	0.2142	0.2995	0.46	6	13	exonic	exonic	exonic	PGPEP1L	PGPEP1L	ENSG00000183571	nonsynonymous SNV	nonsynonymous SNV	unknown	PGPEP1L:NM_001102612:exon5:c.C425T:p.A142V,PGPEP1L:NM_001167902:exon5:c.C263T:p.A88V,	PGPEP1L:uc002bun.3:exon5:c.C263T:p.A88V,PGPEP1L:uc010bop.3:exon4:c.C259T:p.R87W,PGPEP1L:uc002bum.3:exon5:c.C425T:p.A142V,	UNKNOWN	Het;G>A	1655;69|79	Hom;G>A	3337;2|127
N	N	-	15	99653800	99653800	T	C	snp	nonsynonymous SNV	T812C	V271A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SYNM	Synm	ENSG00000182253	synemin	chr15:99638420-99675798	The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit a mild skeletal muscle phenotype characterized by abnormal muscle fiber morphology and increased sarcolemmal deformability and susceptibility to injury.		GO:0031443;fast-twitch skeletal muscle fiber contraction;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005912;adherens junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0060053;neurofilament cytoskeleton;TAS	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;IEA|GO:0017166;vinculin binding;IDA|GO:0019215;intermediate filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SYNM			https://www.ncbi.nlm.nih.gov/omim/?term=606087	http://www.informatics.jax.org/searchtool/Search.do?query=SYNM&submit=Quick%0D%14754ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNM	rs2305445	0.574681	0.5451	0.5891	0.22	2	9	exonic	exonic	exonic	SYNM	SYNM	ENSG00000182253	unknown	nonsynonymous SNV	unknown	UNKNOWN	SYNM:uc002buo.3:exon3:c.T812C:p.V271A,SYNM:uc002bup.3:exon3:c.T812C:p.V271A,	UNKNOWN	Het;T>C	1367;50|60	Hom;T>C	2667;0|98
N	N	-	16	10346131	10346131	T	TC	indel	intergenic	 	 	 	 	RN7SL493P																		rs33985607	0.729433	0	0	1	0	0	intergenic	intergenic	intergenic	GRIN2A(dist=69520),ATF7IP2(dist=133781)	GRIN2A(dist=69520),ATF7IP2(dist=133781)	ENSG00000266439(dist=30201),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;+C	251;16|11	Hom;+C	474;2|21
N	N	-	16	10426370	10426370	T	C	snp	intergenic	 	 	 	 	NONE																		rs9922037	0.340455	0	0	1	0	0	intergenic	intergenic	intergenic	GRIN2A(dist=149759),ATF7IP2(dist=53542)	GRIN2A(dist=149759),ATF7IP2(dist=53542)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	874;38|40	Hom;T>C	1901;0|70
N	N	-	16	10769958	10769958	T	C	snp	nonsynonymous SNV	A944G	Q315R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	TEKT5	Tekt5	ENSG00000153060	tektin 5	chr16:10721358-10788802		Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder	 		GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA	GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TEKT5	https://www.uniprot.org/uniprot/Q96M29			http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5	rs2719710	0.634185	0.4813	0.5002	0.08	1	13	exonic	exonic	exonic	TEKT5	TEKT5	ENSG00000153060	nonsynonymous SNV	nonsynonymous SNV	unknown	TEKT5:NM_144674:exon5:c.A944G:p.Q315R,	TEKT5:uc002czz.1:exon5:c.A944G:p.Q315R,	UNKNOWN	Het;T>C	1920;122|98	Hom;T>C	4318;0|162
N	N	-	16	10770075	10770075	A	G	snp	intronic	 	 	 	 	TEKT5	Tekt5	ENSG00000153060	tektin 5	chr16:10721358-10788802		Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder	 		GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA	GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TEKT5	https://www.uniprot.org/uniprot/Q96M29			http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5	rs2719711	0.66853	0.5211	0.5200	1	0	0	intronic	intronic	intronic	TEKT5	TEKT5	ENSG00000153060	Na	Na	Na	Na	Na	Na	Het;A>G	716;25|26	Hom;A>G	1286;0|39
N	N	-	16	10770091	10770091	T	C	snp	intronic	 	 	 	 	TEKT5	Tekt5	ENSG00000153060	tektin 5	chr16:10721358-10788802		Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder	 		GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA	GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TEKT5	https://www.uniprot.org/uniprot/Q96M29			http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5	rs2719712	0.633986	0	0	1	0	0	intronic	intronic	intronic	TEKT5	TEKT5	ENSG00000153060	Na	Na	Na	Na	Na	Na	Het;T>C	425;15|18	Hom;T>C	953;0|33
N	N	-	16	10775855	10775855	G	A	snp	synonymous SNV	C858T	D286D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TEKT5	Tekt5	ENSG00000153060	tektin 5	chr16:10721358-10788802		Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder	 		GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA	GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TEKT5	https://www.uniprot.org/uniprot/Q96M29			http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5	rs12918646	0.294728	0.1812	0.2586	1	0	0	exonic	exonic	exonic	TEKT5	TEKT5	ENSG00000153060	synonymous SNV	synonymous SNV	unknown	TEKT5:NM_144674:exon4:c.C858T:p.D286D,	TEKT5:uc002czz.1:exon4:c.C858T:p.D286D,	UNKNOWN	Het;G>A	979;68|48	Hom;G>A	3993;0|117
N	N	-	16	10935167	10935167	C	CT	indel	ncRNA_exonic	 	 	 	 	AC133065.3																		rs149238635	0.16254	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TVP23A(dist=22546),CIITA(dist=35888)	TVP23A(dist=22546),CIITA(dist=35888)	ENSG00000262488	Na	Na	Na	Na	Na	Na	Het;+T	565;17|19	Hom;+T	1763;0|40
N	N	-	16	11136048	11136048	C	G	snp	intronic	 	 	 	 	CLEC16A	Clec16a	ENSG00000038532	C-type lectin domain containing 16A	chr16:11038345-11276046	This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]	Multiple Sclerosis; hypertension; multiple sclerosis; Immunoglobulin A; type 1 diabetes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Celiac disease; diabetes, type 1 ; Diabetes Mellitus, Type 1|Multiple Sclerosis; QT interval; Autoimmune Diseases|Celiac Disease|; diabetes, type 1; Rhinitis, Allergic, Seasonal; Autoimmune Diseases|IgA Deficiency; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Lupus Erythematosus, Systemic; rheumatoid arthritis; Arthritis, Rheumatoid|Autoimmune Diseases|Diabetes Mellitus, Type 1|Multiple Sclerosis; Tobacco Use Disorder; Cholesterol, HDL; Addison Disease|; breast cancer; Diabetes Mellitus, Type 1; Liver Cirrhosis, Biliary; Crohn Disease|Diabetes Mellitus, Type 1|Inflammatory Bowel Diseases|Multiple Sclerosis; Type 2 diabetes|reduced prostate cancer risk; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|	Homozygotes for a spontaneous mutation have a curved tail, small body size, squinting eyes, crooked digits that curve outward, and premature death.		GO:0006914;autophagy;IEA|GO:0032435;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:1901098;positive regulation of autophagosome maturation;IEA|GO:1901525;negative regulation of macromitophagy;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0036020;endolysosome membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CLEC16A	https://www.uniprot.org/uniprot/Q2KHT3		https://www.ncbi.nlm.nih.gov/omim/?term=611303	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC16A&submit=Quick%0D%804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC16A	rs2302557	0.663738	0	0	1	0	0	intronic	intronic	intronic	CLEC16A	CLEC16A	ENSG00000038532	Na	Na	Na	Na	Na	Na	Het;C>G	282;16|13	Hom;C>G	1052;0|36
N	N	-	16	1114458	1114458	G	A	snp	ncRNA_exonic	 	 	 	 	SSTR5-AS1																		rs9937531	0.358427	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	SSTR5-AS1	SSTR5-AS1(uc002cko.3:c.*960C>T)	ENSG00000261713	Na	Na	Na	Na	Na	Na	Het;G>A	523;23|25	Hom;G>A	1554;2|60
N	N	-	16	1115493	1115493	G	GT	indel	frameshift substitution	1017_1017delinsAC	 	 	 	SSTR5-AS1																		rs200810931	0	0	0.1272	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	SSTR5-AS1	SSTR5-AS1	ENSG00000181791,ENSG00000261713	Na	frameshift substitution	Na	Na	SSTR5-AS1:uc002cko.3:exon4:c.1017_1017delinsAC,	Na	Het;+T	2020;71|73	Hom;+T	4225;0|125
N	N	-	16	1115904	1115904	G	A	snp	synonymous SNV	C606T	S202S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SSTR5-AS1																		rs66626263	0.331869	0	0.3650	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	SSTR5-AS1	SSTR5-AS1	ENSG00000181791,ENSG00000261713,ENSG00000261720	Na	synonymous SNV	Na	Na	SSTR5-AS1:uc002cko.3:exon4:c.C606T:p.S202S,	Na	Het;G>A	1612;61|74	Hom;G>A	3173;0|112
N	N	-	16	1116169	1116169	A	G	snp	nonsynonymous SNV	T341C	L114P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SSTR5-AS1																		rs7189857	0.44988	0	0.4790	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	SSTR5-AS1	SSTR5-AS1	ENSG00000181791,ENSG00000261713,ENSG00000261720	Na	nonsynonymous SNV	Na	Na	SSTR5-AS1:uc002cko.3:exon4:c.T341C:p.L114P,	Na	Het;A>G	1196;62|51	Hom;A>G	3127;0|103
N	N	-	16	1116243	1116243	C	T	snp	synonymous SNV	G267A	Q89Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SSTR5-AS1																		rs35432067	0.0932508	0	0.1386	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	SSTR5-AS1	SSTR5-AS1	ENSG00000181791,ENSG00000261713,ENSG00000261720	Na	synonymous SNV	Na	Na	SSTR5-AS1:uc002cko.3:exon4:c.G267A:p.Q89Q,	Na	Het;C>T	837;50|41	Hom;C>T	2933;0|69
N	N	-	16	1129872	1129872	C	T	snp	nonsynonymous SNV	C1004T	P335L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SSTR5	Sstr5	ENSG00000162009	somatostatin receptor 5	chr16:1122756-1131454	Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]	breast cancer|prostate cancer; acromegaly; bipolar affective disorder.; bipolar affective disorder; breast cancer; Bulimia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Psychiatric Disorders; Alcoholism; prostate cancer	Homozygotes for one null allele display decreased numbers of insulin positive cells in the pancreas. Homozygotes for a second null allele have normal pancreatic islet morphology but increased insulin secretion, decreased blood insulin and glucose levels,and improved glucose tolerance.	G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007268;chemical synaptic transmission;IBA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0038170;somatostatin signaling pathway;IEA|GO:0042593;glucose homeostasis;IEA|GO:0050796;regulation of insulin secretion;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004994;somatostatin receptor activity;TAS|GO:0042923;neuropeptide binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SSTR5			https://www.ncbi.nlm.nih.gov/omim/?term=182455	http://www.informatics.jax.org/searchtool/Search.do?query=SSTR5&submit=Quick%0D%10641ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSTR5	rs169068	0.518171	0.4866	0.5386	0.15	2	13	exonic	exonic	exonic	SSTR5	SSTR5	ENSG00000162009	nonsynonymous SNV	nonsynonymous SNV	unknown	SSTR5:NM_001053:exon1:c.C1004T:p.P335L,SSTR5:NM_001172560:exon2:c.C1004T:p.P335L,	SSTR5:uc021taf.1:exon2:c.C1004T:p.P335L,SSTR5:uc002ckq.3:exon1:c.C1004T:p.P335L,	UNKNOWN	Het;C>T	789;46|35	Hom;C>T	2248;0|80
N	N	-	16	11310594	11310598	TTTTA	T	indel	ncRNA_intronic	 	 	 	 	AC007220.1																		rs138411004	0.476438	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CLEC16A(dist=34548),SOCS1(dist=37676)	CLEC16A(dist=34548),SOCS1(dist=37676)	ENSG00000263033	Na	Na	Na	Na	Na	Na	Het;-TTTA	35;4|2	Hom;-TTTA	139;0|4
N	N	-	16	11642782	11642782	C	A	snp	UTR3	*711G>T	 	 	 	LITAF	Litaf	ENSG00000189067	lipopolysaccharide induced TNF factor	chr16:11641853-11730237	Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]	bladder cancer; lung cancer ; QT interval; Coronary Disease; Multiple Sclerosis; lung cancer; Electrocardiography; chronic obstructive pulmonary disease; Charcot-Marie-Tooth disease; Arrhythmias, Cardiac|Death, Sudden, Cardiac|	Homozygous ablation of this gene in macrophages results in reduced cytokine secretion in response to LPS stimulation, and increased resistance to LPS-induced septic shock.		GO:0001817;regulation of cytokine production;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0007568;aging;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0042347;negative regulation of NF-kappaB import into nucleus;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LITAF		https://hpo.jax.org/app/browse/search?q=LITAF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603795	http://www.informatics.jax.org/searchtool/Search.do?query=LITAF&submit=Quick%0D%16175ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LITAF	rs117082330	0.00738818	0	0.0136	1	0	0	UTR3	UTR3	UTR3	LITAF(NM_004862:c.*711G>T,NM_001136472:c.*711G>T,NM_001136473:c.*836G>T)	LITAF(uc002daz.3:c.*711G>T,uc002dba.3:c.*836G>T,uc002dbb.3:c.*711G>T,uc002dbd.3:c.*711G>T)	ENSG00000189067(ENST00000571688:c.*711G>T,ENST00000413364:c.*836G>T,ENST00000339430:c.*711G>T,ENST00000381810:c.*511G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	2249;98|105	Hom;C>A	4616;0|173
N	N	-	16	11922514	11922514	A	T	snp	ncRNA_exonic	 	 	 	 	BCAR4																		rs718080	0.333866	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	BCAR4	BCAR4(uc031qve.1:c.-8372T>A)	ENSG00000262117	Na	Na	Na	Na	Na	Na	Het;A>T	1850;77|88	Hom;A>T	3057;0|111
N	N	-	16	11940764	11940764	T	C	snp	intronic	 	 	 	 	RSL1D1	Rsl1d1	ENSG00000171490	ribosomal L1 domain containing 1	chr16:11929056-11945442		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0000470;maturation of LSU-rRNA;IBA|GO:0001649;osteoblast differentiation;IDA|GO:0032880;regulation of protein localization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:2000772;regulation of cellular senescence;IDA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0016020;membrane;IDA|GO:0030686;90S preribosome;IBA	GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0045296;cadherin binding;IDA|GO:0048027;mRNA 5'-UTR binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RSL1D1			https://www.ncbi.nlm.nih.gov/omim/?term=615874	http://www.informatics.jax.org/searchtool/Search.do?query=RSL1D1&submit=Quick%0D%12943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RSL1D1	rs1019814	0.326278	0	0	1	0	0	intronic	intronic	intronic	RSL1D1	RSL1D1	ENSG00000171490	Na	Na	Na	Na	Na	Na	Het;T>C	524;14|19	Hom;T>C	1672;4|57
N	N	-	16	11981487	11981487	G	A	snp	synonymous SNV	C897T	G299G	aliphatic,neutral	aliphatic,neutral	GSPT1	Gspt1	ENSG00000103342	G1 to S phase transition 1	chr16:11961985-12009939		Diabetes Mellitus	 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002184;cytoplasmic translational termination;IBA|GO:0006412;translation;IEA|GO:0006415;translational termination;TAS|GO:0006479;protein methylation;IDA	GO:0005622;intracellular;NAS|GO:0005829;cytosol;TAS|GO:0018444;translation release factor complex;IBA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003747;translation release factor activity;IMP|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSPT1	https://www.uniprot.org/uniprot/P15170		https://www.ncbi.nlm.nih.gov/omim/?term=139259	http://www.informatics.jax.org/searchtool/Search.do?query=GSPT1&submit=Quick%0D%3009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSPT1	rs3752426	0.120008	0.25	0.2333	1	0	0	exonic	exonic	exonic	GSPT1	GSPT1	ENSG00000103342	synonymous SNV	synonymous SNV	unknown	GSPT1:NM_001130006:exon7:c.C894T:p.G298G,GSPT1:NM_001130007:exon7:c.C483T:p.G161G,GSPT1:NM_002094:exon7:c.C897T:p.G299G,	GSPT1:uc002dbt.3:exon7:c.C897T:p.G299G,GSPT1:uc002dbu.3:exon7:c.C894T:p.G298G,GSPT1:uc010bux.3:exon7:c.C483T:p.G161G,	UNKNOWN	Het;G>A	1708;74|85	Hom;G>A	4796;0|184
N	N	-	16	12009304	12009304	C	A	snp	nonsynonymous SNV	G274T	G92C	aliphatic,neutral	polar,hydrophobic,neutral	GSPT1	Gspt1	ENSG00000103342	G1 to S phase transition 1	chr16:11961985-12009939		Diabetes Mellitus	 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002184;cytoplasmic translational termination;IBA|GO:0006412;translation;IEA|GO:0006415;translational termination;TAS|GO:0006479;protein methylation;IDA	GO:0005622;intracellular;NAS|GO:0005829;cytosol;TAS|GO:0018444;translation release factor complex;IBA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003747;translation release factor activity;IMP|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSPT1	https://www.uniprot.org/uniprot/P15170		https://www.ncbi.nlm.nih.gov/omim/?term=139259	http://www.informatics.jax.org/searchtool/Search.do?query=GSPT1&submit=Quick%0D%3009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSPT1	rs11544193	0.302716	0.4542	0.5308	0.64	7	11	exonic	exonic	exonic	GSPT1	GSPT1	ENSG00000103342	nonsynonymous SNV	nonsynonymous SNV	unknown	GSPT1:NM_001130006:exon1:c.G274T:p.G92C,GSPT1:NM_002094:exon1:c.G274T:p.G92C,	GSPT1:uc002dbt.3:exon1:c.G274T:p.G92C,GSPT1:uc002dbu.3:exon1:c.G274T:p.G92C,	UNKNOWN	Het;C>A	253;10|15	Hom;C>A	1456;0|35
N	N	-	16	12009614	12009614	G	A	snp	UTR5	-37C>T	 	 	 	GSPT1	Gspt1	ENSG00000103342	G1 to S phase transition 1	chr16:11961985-12009939		Diabetes Mellitus	 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002184;cytoplasmic translational termination;IBA|GO:0006412;translation;IEA|GO:0006415;translational termination;TAS|GO:0006479;protein methylation;IDA	GO:0005622;intracellular;NAS|GO:0005829;cytosol;TAS|GO:0018444;translation release factor complex;IBA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003747;translation release factor activity;IMP|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSPT1	https://www.uniprot.org/uniprot/P15170		https://www.ncbi.nlm.nih.gov/omim/?term=139259	http://www.informatics.jax.org/searchtool/Search.do?query=GSPT1&submit=Quick%0D%3009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSPT1	rs435108	0.84984	0.9166	0.9035	1	0	0	UTR5	UTR5	UTR5	GSPT1(NM_001130006:c.-37C>T,NM_002094:c.-37C>T)	GSPT1(uc002dbu.3:c.-37C>T,uc002dbt.3:c.-37C>T)	ENSG00000103342(ENST00000434724:c.-37C>T,ENST00000439887:c.-37C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	112;8|7	Hom;G>A	639;0|26
N	N	-	16	1252259	1252259	A	G	snp	synonymous SNV	A1809G	R603R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CACNA1H	Cacna1h	ENSG00000196557	calcium voltage-gated channel subunit alpha1 H	chr16:1203241-1271771	This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]	Hypertension; epilepsy; atherosclerosis; Alcoholism; Epilepsy, Generalized; childhood absence epilepsy.; autism	Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis.	NCAM1 interactions	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;NAS|GO:0007520;myoblast fusion;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0019228;neuronal action potential;IBA|GO:0032342;aldosterone biosynthetic process;IMP|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034220;ion transmembrane transport;IEA|GO:0034651;cortisol biosynthetic process;IMP|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035865;cellular response to potassium ion;IEP|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:2000344;positive regulation of acrosome reaction;IMP	GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1H		https://hpo.jax.org/app/browse/search?q=CACNA1H&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607904	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1H&submit=Quick%0D%16401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1H	rs9934839	0.396565	0.5461	0.5185	1	0	0	exonic	exonic	exonic	CACNA1H	CACNA1H	ENSG00000196557	synonymous SNV	synonymous SNV	unknown	CACNA1H:NM_021098:exon9:c.A1809G:p.R603R,CACNA1H:NM_001005407:exon9:c.A1809G:p.R603R,	CACNA1H:uc002cks.3:exon9:c.A1809G:p.R603R,CACNA1H:uc002ckt.3:exon9:c.A1809G:p.R603R,	UNKNOWN	Het;A>G	1339;40|59	Hom;A>G	2632;0|89
N	N	-	16	1388888	1388888	C	T	snp	intronic	 	 	 	 	BAIAP3	Baiap3	ENSG00000007516	BAI1 associated protein 3	chr16:1383602-1399439	This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	Stroke	Mice homozygous for a null allele are viable and fertile but exhibit increased PTZ-induced seizure propensity, as well as increased novelty-induced anxiety in both genders, with a more pronounced effect in females, and a faster developmentof tolerance to benzodiazepines in male mice.		GO:0007186;G-protein coupled receptor signaling pathway;IPI|GO:0007269;neurotransmitter secretion;TAS	GO:0005783;endoplasmic reticulum;IBA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0008022;protein C-terminus binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP3	https://www.uniprot.org/uniprot/O94812		https://www.ncbi.nlm.nih.gov/omim/?term=604009	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP3&submit=Quick%0D%449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP3	rs7197416	0.946286	0.9075	0.9138	1	0	0	intronic	intronic	intronic	BAIAP3	BAIAP3	ENSG00000007516	Na	Na	Na	Na	Na	Na	Het;C>T	1346;53|63	Hom;C>T	2678;0|97
N	N	-	16	14968859	14968859	C	T	snp	intronic	 	 	 	 	NOMO1	Nomo1	ENSG00000274779	NODAL modulator 1	chr16:14927538-14990017	This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]		 		GO:0008150;biological_process;ND	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOMO1	https://www.uniprot.org/uniprot/Q15155		https://www.ncbi.nlm.nih.gov/omim/?term=609157	http://www.informatics.jax.org/searchtool/Search.do?query=NOMO1&submit=Quick%0D%21197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOMO1	rs11863419	0.116613	0.0858	0.1151	1	0	0	intronic	intronic	intronic	NOMO1	NOMO1	ENSG00000103512	Na	Na	Na	Na	Na	Na	Het;C>T	1045;44|46	Hom;C>T	2109;1|76
N	N	-	16	14969459	14969463	TTGGA	T	indel	intronic	 	 	 	 	NOMO1	Nomo1	ENSG00000274779	NODAL modulator 1	chr16:14927538-14990017	This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]		 		GO:0008150;biological_process;ND	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOMO1	https://www.uniprot.org/uniprot/Q15155		https://www.ncbi.nlm.nih.gov/omim/?term=609157	http://www.informatics.jax.org/searchtool/Search.do?query=NOMO1&submit=Quick%0D%21197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOMO1	Na	0	0	0	1	0	0	intronic	intronic	intronic	NOMO1	NOMO1	ENSG00000103512	Na	Na	Na	Na	Na	Na	Het;-TGGA	236;7|7	Hom;-TGGA	507;0|14
N	N	-	16	15083131	15083131	A	T	snp	ncRNA_exonic	 	 	 	 	AC138932.3																		rs4985166	0	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PDXDC1	PDXDC1	ENSG00000261819	Na	Na	Na	Na	Na	Na	Het;A>T	776;102|46	Hom;A>T	1906;6|74
N	N	-	16	15083383	15083383	G	A	snp	ncRNA_exonic	 	 	 	 	AC138932.3																		rs113462655	0	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PDXDC1	PDXDC1	ENSG00000261819	Na	Na	Na	Na	Na	Na	Het;G>A	1365;63|67	Hom;G>A	3131;0|125
N	N	-	16	15083561	15083561	G	A	snp	ncRNA_exonic	 	 	 	 	AC138932.3																		rs145963881	0.144569	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PDXDC1	PDXDC1	ENSG00000261819	Na	Na	Na	Na	Na	Na	Het;G>A	804;27|36	Hom;G>A	2641;0|98
N	N	-	16	15083868	15083868	A	C	snp	ncRNA_exonic	 	 	 	 	AC138932.3																		rs9928601	0.491414	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PDXDC1	PDXDC1	ENSG00000261819	Na	Na	Na	Na	Na	Na	Het;A>C	531;23|23	Hom;A>C	654;0|27
N	N	-	16	1510567	1510567	T	G	snp	intronic	 	 	 	 	CLCN7	Clcn7	ENSG00000103249	chloride voltage-gated channel 7	chr16:1494935-1525581	The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]	Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight	Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCN7	https://www.uniprot.org/uniprot/P51798	https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602727	http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7	rs2072950	0.67492	0.7541	0.6666	1	0	0	intronic	intronic	intronic	CLCN7	CLCN7	ENSG00000103249	Na	Na	Na	Na	Na	Na	Het;T>G	779;39|36	Hom;T>G	2093;0|73
N	N	-	16	15217194	15217194	C	T	snp	ncRNA_intronic	 	 	 	 	PKD1P6																		rs141289237	0.116014	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	PKD1P6	FLJ00285,PDXDC1	ENSG00000188599,ENSG00000270580	Na	Na	Na	Na	Na	Na	Het;C>T	384;35|21	Hom;C>T	1569;4|67
N	N	-	16	15219214	15219214	G	C	snp	ncRNA_intronic	 	 	 	 	PKD1P6																		rs370481106	0.133387	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	PKD1P6	FLJ00285,PDXDC1	ENSG00000188599,ENSG00000250251,ENSG00000270580	Na	Na	Na	Na	Na	Na	Het;G>C	43;2|2	Hom;G>C	177;0|5
N	N	-	16	15225056	15225056	A	G	snp	synonymous SNV	T120C	S40S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FLJ00285																		rs118186179	0.120008	0	0.0879	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	PKD1P6	FLJ00285	ENSG00000188599,ENSG00000250251,ENSG00000270580	Na	synonymous SNV	Na	Na	FLJ00285:uc002ddh.2:exon1:c.T120C:p.S40S,FLJ00285:uc010uzt.2:exon1:c.T120C:p.S40S,	Na	Het;A>G	511;82|25	Hom;A>G	1759;0|55
N	N	-	16	15225148	15225148	G	C	snp	nonsynonymous SNV	C28G	Q10E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	FLJ00285																		rs11866336	0.134984	0	0.1333	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	PKD1P6	FLJ00285	ENSG00000188599,ENSG00000250251,ENSG00000270580	Na	nonsynonymous SNV	Na	Na	FLJ00285:uc002ddh.2:exon1:c.C28G:p.Q10E,FLJ00285:uc010uzt.2:exon1:c.C28G:p.Q10E,	Na	Het;G>C	1023;65|45	Hom;G>C	2055;2|67
N	N	-	16	15226525	15226525	C	T	snp	ncRNA_intronic	 	 	 	 	PKD1P6																		rs57147596	0.167732	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	PKD1P6	PDXDC1	ENSG00000250251	Na	Na	Na	Na	Na	Na	Het;C>T	511;16|23	Hom;C>T	722;1|28
N	N	-	16	15226880	15226880	G	A	snp	ncRNA_exonic	 	 	 	 	PKD1P6																		rs151262004	0.167732	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	PKD1P6	PDXDC1	ENSG00000250251	Na	Na	Na	Na	Na	Na	Het;G>A	2441;164|118	Hom;G>A	6312;0|233
N	N	-	16	1532837	1532837	A	G	snp	intergenic	 	 	 	 	RPS3AP2																		rs4786772	0.396765	0	0	1	0	0	intergenic	intergenic	intergenic	CLCN7(dist=7752),PTX4(dist=3103)	CLCN7(dist=7752),PTX4(dist=3103)	ENSG00000219027(dist=4253),ENSG00000251692(dist=3050)	Na	Na	Na	Na	Na	Na	Het;A>G	140;2|8	Hom;A>G	162;0|7
N	N	-	16	1532865	1532865	G	A	snp	intergenic	 	 	 	 	RPS3AP2																		rs13336594	0.0864617	0	0	1	0	0	intergenic	intergenic	intergenic	CLCN7(dist=7780),PTX4(dist=3075)	CLCN7(dist=7780),PTX4(dist=3075)	ENSG00000219027(dist=4281),ENSG00000251692(dist=3022)	Na	Na	Na	Na	Na	Na	Het;G>A	140;2|8	Hom;G>A	157;0|7
N	N	-	16	1536323	1536323	A	G	snp	synonymous SNV	T1039C	L347L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PTX4	Ptx4	ENSG00000251692	pentraxin 4	chr16:1535887-1538982	This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]		 			GO:0005576;extracellular region;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTX4			https://www.ncbi.nlm.nih.gov/omim/?term=613442	http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4	rs2667671	0.310104	0.3477	0.2392	1	0	0	exonic	exonic	exonic	PTX4	PTX4	ENSG00000251692	synonymous SNV	synonymous SNV	unknown	PTX4:NM_001013658:exon3:c.T1039C:p.L347L,	PTX4:uc010uvf.2:exon3:c.T1039C:p.L347L,	UNKNOWN	Het;A>G	404;30|19	Hom;A>G	1628;0|60
N	N	-	16	1536380	1536380	G	T	snp	nonsynonymous SNV	C982A	L328M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PTX4	Ptx4	ENSG00000251692	pentraxin 4	chr16:1535887-1538982	This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]		 			GO:0005576;extracellular region;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTX4			https://www.ncbi.nlm.nih.gov/omim/?term=613442	http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4	rs2667672	0.309904	0.3543	0.2393	0.31	4	13	exonic	exonic	exonic	PTX4	PTX4	ENSG00000251692	nonsynonymous SNV	nonsynonymous SNV	unknown	PTX4:NM_001013658:exon3:c.C982A:p.L328M,	PTX4:uc010uvf.2:exon3:c.C982A:p.L328M,	UNKNOWN	Het;G>T	876;30|39	Hom;G>T	1942;0|73
N	N	-	16	1536499	1536499	G	T	snp	nonsynonymous SNV	C863A	A288D	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	PTX4	Ptx4	ENSG00000251692	pentraxin 4	chr16:1535887-1538982	This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]		 			GO:0005576;extracellular region;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTX4			https://www.ncbi.nlm.nih.gov/omim/?term=613442	http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4	rs2745097	0.279353	0.3200	0.2330	0.23	3	13	exonic	exonic	exonic	PTX4	PTX4	ENSG00000251692	nonsynonymous SNV	nonsynonymous SNV	unknown	PTX4:NM_001013658:exon3:c.C863A:p.A288D,	PTX4:uc010uvf.2:exon3:c.C863A:p.A288D,	UNKNOWN	Het;G>T	1246;64|59	Hom;G>T	1919;1|74
N	N	-	16	1536535	1536535	C	T	snp	nonsynonymous SNV	G827A	R276K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PTX4	Ptx4	ENSG00000251692	pentraxin 4	chr16:1535887-1538982	This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]		 			GO:0005576;extracellular region;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTX4			https://www.ncbi.nlm.nih.gov/omim/?term=613442	http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4	rs2745098	0.496406	0.4721	0.4069	0.15	2	13	exonic	exonic	exonic	PTX4	PTX4	ENSG00000251692	nonsynonymous SNV	nonsynonymous SNV	unknown	PTX4:NM_001013658:exon3:c.G827A:p.R276K,	PTX4:uc010uvf.2:exon3:c.G827A:p.R276K,	UNKNOWN	Het;C>T	1079;58|53	Hom;C>T	2043;0|74
N	N	-	16	1537455	1537455	T	C	snp	nonsynonymous SNV	A643G	R215G	polar,hydrophilic,charged(+)	aliphatic,neutral	PTX4	Ptx4	ENSG00000251692	pentraxin 4	chr16:1535887-1538982	This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]		 			GO:0005576;extracellular region;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTX4			https://www.ncbi.nlm.nih.gov/omim/?term=613442	http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4	rs2667673	0.535743	0.4747	0.4169	0.08	1	13	exonic	exonic	exonic	PTX4	PTX4	ENSG00000251692	nonsynonymous SNV	nonsynonymous SNV	unknown	PTX4:NM_001013658:exon2:c.A643G:p.R215G,	PTX4:uc010uvf.2:exon2:c.A643G:p.R215G,	UNKNOWN	Het;T>C	298;21|14	Hom;T>C	1989;0|55
N	N	-	16	1538363	1538363	C	A	snp	nonsynonymous SNV	G106T	G36C	aliphatic,neutral	polar,hydrophobic,neutral	PTX4	Ptx4	ENSG00000251692	pentraxin 4	chr16:1535887-1538982	This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]		 			GO:0005576;extracellular region;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTX4			https://www.ncbi.nlm.nih.gov/omim/?term=613442	http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4	rs1040499	0.499601	0.4806	0.4071	0.09	1	11	exonic	exonic	exonic	PTX4	PTX4	ENSG00000251692	nonsynonymous SNV	nonsynonymous SNV	unknown	PTX4:NM_001013658:exon1:c.G106T:p.G36C,	PTX4:uc010uvf.2:exon1:c.G106T:p.G36C,	UNKNOWN	Het;C>A	1590;83|78	Hom;C>A	2790;2|110
N	N	-	16	1545448	1545448	A	G	snp	nonsynonymous SNV	A437G	Q146R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	TELO2	Telo2	ENSG00000100726	telomere maintenance 2	chr16:1543345-1560458	This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]	TELO2 Syndromic Intellectual Disability Disorder	Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5.		GO:0032006;regulation of TOR signaling;IMP|GO:0050821;protein stabilization;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:1904515;positive regulation of TORC2 signaling;IMP	GO:0000781;chromosome, telomeric region;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0031931;TORC1 complex;IDA|GO:0031932;TORC2 complex;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IDA|GO:0032947;protein complex scaffold;IEA|GO:0051879;Hsp90 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TELO2	https://www.uniprot.org/uniprot/Q9Y4R8	https://hpo.jax.org/app/browse/search?q=TELO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611140	http://www.informatics.jax.org/searchtool/Search.do?query=TELO2&submit=Quick%0D%2589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TELO2	rs2235624	0.463658	0.4834	0.6083	0.15	2	13	exonic	exonic	exonic	TELO2	TELO2	ENSG00000100726	nonsynonymous SNV	nonsynonymous SNV	unknown	TELO2:NM_016111:exon3:c.A437G:p.Q146R,	TELO2:uc002cly.3:exon3:c.A437G:p.Q146R,TELO2:uc010uvg.1:exon3:c.A437G:p.Q146R,	UNKNOWN	Het;A>G	967;46|50	Hom;A>G	1553;0|59
N	N	-	16	15528784	15528784	C	T	snp	intronic	 	 	 	 	C16orf45	2900011O08Rik	ENSG00000278823	chromosome 16 open reading frame 45	chr16:15528152-15718885		Hypertrophy, Left Ventricular; monocyte chemoattractant protein 1 (66-77); Forced Expiratory Volume	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C16orf45				http://www.informatics.jax.org/searchtool/Search.do?query=C16orf45&submit=Quick%0D%22148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf45	rs11645609	0.0790735	0	0	1	0	0	intronic	intronic	intronic	C16orf45	C16orf45	ENSG00000166780,ENSG00000261130	Na	Na	Na	Na	Na	Na	Het;C>T	125;3|5	Hom;C>T	196;0|7
N	N	-	16	1557794	1557794	A	T	snp	intronic	 	 	 	 	TELO2	Telo2	ENSG00000100726	telomere maintenance 2	chr16:1543345-1560458	This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]	TELO2 Syndromic Intellectual Disability Disorder	Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5.		GO:0032006;regulation of TOR signaling;IMP|GO:0050821;protein stabilization;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:1904515;positive regulation of TORC2 signaling;IMP	GO:0000781;chromosome, telomeric region;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0031931;TORC1 complex;IDA|GO:0031932;TORC2 complex;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IDA|GO:0032947;protein complex scaffold;IEA|GO:0051879;Hsp90 protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TELO2	https://www.uniprot.org/uniprot/Q9Y4R8	https://hpo.jax.org/app/browse/search?q=TELO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611140	http://www.informatics.jax.org/searchtool/Search.do?query=TELO2&submit=Quick%0D%2589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TELO2	rs12927760	0.890974	0	0	1	0	0	intronic	intronic	intronic	TELO2	TELO2	ENSG00000100726	Na	Na	Na	Na	Na	Na	Het;A>T	567;4|23	Hom;A>T	529;1|20
N	N	-	16	1584618	1584618	T	C	snp	intronic	 	 	 	 	IFT140	Ift140	ENSG00000187535	intraflagellar transport 140	chr16:1560428-1662111	This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]	Mainzer-Saldino Syndrome	Mice homozygous for a reporter knock-out allele die at mid-gestation.  Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects and situs abnormalities.	Intraflagellar transport	GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0021532;neural tube patterning;IEA|GO:0030030;cell projection organization;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035721;intraciliary retrograde transport;IBA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0042073;intraciliary transport;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IMP|GO:0060041;retina development in camera-type eye;IMP|GO:0060271;cilium assembly;IEA|GO:0061512;protein localization to cilium;IMP|GO:0072001;renal system development;IMP|GO:1902017;regulation of cilium assembly;IMP|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IBA|GO:0030991;intraciliary transport particle A;IDA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS|GO:0097730;non-motile cilium;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/IFT140		https://hpo.jax.org/app/browse/search?q=IFT140&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614620	http://www.informatics.jax.org/searchtool/Search.do?query=IFT140&submit=Quick%0D%15837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT140	rs2076438	0.529752	0	0	1	0	0	intronic	intronic	intronic	IFT140,TMEM204	IFT140,TMEM204	ENSG00000131634,ENSG00000187535	Na	Na	Na	Na	Na	Na	Het;T>C	56;13|6	Hom;T>C	784;1|31
N	N	-	16	16108282	16108282	T	C	snp	intronic	 	 	 	 	ABCC1	Abcc1	ENSG00000278183	ATP binding cassette subfamily C member 1	chr16:16043434-16236931	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]	lung cancer; Psoriasis; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; asthma; esophageal adenocarcinoma; drug-related genes ; Chronic Obstructive Pulmonary Disease; ovarian cancer; Hypertension; Colorectal Neoplasms|Neutropenia; cardiotoxicity, anthracycline-induced; Arthritis, Rheumatoid|; colorectal cancer; Multiple Myeloma|Recurrence; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; GRACILE syndrome; cancer; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; pharmacogenetic studies; solid tumors; Type 2 Diabetes| edema | rosiglitazone; hypertension; 9-Hydroxyrisperidone and Risperidone; Pulmonary Disease, Chronic Obstructive; nelfinavir pharmacokinetics; lung cancer ; null; cystic fibrosis; atherosclerosis; Carcinoma, Hepatocellular|Liver Neoplasms	Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide.	ABC-family proteins mediated transport	GO:0006691;leukotriene metabolic process;TAS|GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IBA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IEA|GO:0034775;glutathione transmembrane transport;IBA|GO:0035461;vitamin transmembrane transport;IEA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IBA|GO:0055085;transmembrane transport;TAS|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;IBA|GO:0015420;cobalamin-transporting ATPase activity;TAS|GO:0015431;glutathione S-conjugate-exporting ATPase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0034634;glutathione transmembrane transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC1	https://www.uniprot.org/uniprot/P33527		https://www.ncbi.nlm.nih.gov/omim/?term=158343	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC1&submit=Quick%0D%21982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC1	rs4148337	0.536542	0	0	1	0	0	intronic	intronic	intronic	ABCC1	ABCC1	ENSG00000103222	Na	Na	Na	Na	Na	Na	Het;T>C	179;2|9	Hom;T>C	609;0|17
N	N	-	16	16110244	16110244	C	G	snp	intronic	 	 	 	 	ABCC1	Abcc1	ENSG00000278183	ATP binding cassette subfamily C member 1	chr16:16043434-16236931	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]	lung cancer; Psoriasis; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; asthma; esophageal adenocarcinoma; drug-related genes ; Chronic Obstructive Pulmonary Disease; ovarian cancer; Hypertension; Colorectal Neoplasms|Neutropenia; cardiotoxicity, anthracycline-induced; Arthritis, Rheumatoid|; colorectal cancer; Multiple Myeloma|Recurrence; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; GRACILE syndrome; cancer; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; pharmacogenetic studies; solid tumors; Type 2 Diabetes| edema | rosiglitazone; hypertension; 9-Hydroxyrisperidone and Risperidone; Pulmonary Disease, Chronic Obstructive; nelfinavir pharmacokinetics; lung cancer ; null; cystic fibrosis; atherosclerosis; Carcinoma, Hepatocellular|Liver Neoplasms	Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide.	ABC-family proteins mediated transport	GO:0006691;leukotriene metabolic process;TAS|GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IBA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IEA|GO:0034775;glutathione transmembrane transport;IBA|GO:0035461;vitamin transmembrane transport;IEA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IBA|GO:0055085;transmembrane transport;TAS|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;IBA|GO:0015420;cobalamin-transporting ATPase activity;TAS|GO:0015431;glutathione S-conjugate-exporting ATPase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0034634;glutathione transmembrane transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC1	https://www.uniprot.org/uniprot/P33527		https://www.ncbi.nlm.nih.gov/omim/?term=158343	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC1&submit=Quick%0D%21982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC1	rs185005	0.730431	0	0	1	0	0	intronic	intronic	intronic	ABCC1	ABCC1	ENSG00000103222	Na	Na	Na	Na	Na	Na	Het;C>G	271;11|7	Hom;C>G	1047;0|24
N	N	-	16	16110253	16110253	T	C	snp	intronic	 	 	 	 	ABCC1	Abcc1	ENSG00000278183	ATP binding cassette subfamily C member 1	chr16:16043434-16236931	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]	lung cancer; Psoriasis; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; asthma; esophageal adenocarcinoma; drug-related genes ; Chronic Obstructive Pulmonary Disease; ovarian cancer; Hypertension; Colorectal Neoplasms|Neutropenia; cardiotoxicity, anthracycline-induced; Arthritis, Rheumatoid|; colorectal cancer; Multiple Myeloma|Recurrence; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; GRACILE syndrome; cancer; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; pharmacogenetic studies; solid tumors; Type 2 Diabetes| edema | rosiglitazone; hypertension; 9-Hydroxyrisperidone and Risperidone; Pulmonary Disease, Chronic Obstructive; nelfinavir pharmacokinetics; lung cancer ; null; cystic fibrosis; atherosclerosis; Carcinoma, Hepatocellular|Liver Neoplasms	Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide.	ABC-family proteins mediated transport	GO:0006691;leukotriene metabolic process;TAS|GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IBA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IEA|GO:0034775;glutathione transmembrane transport;IBA|GO:0035461;vitamin transmembrane transport;IEA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IBA|GO:0055085;transmembrane transport;TAS|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;IBA|GO:0015420;cobalamin-transporting ATPase activity;TAS|GO:0015431;glutathione S-conjugate-exporting ATPase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0034634;glutathione transmembrane transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC1	https://www.uniprot.org/uniprot/P33527		https://www.ncbi.nlm.nih.gov/omim/?term=158343	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC1&submit=Quick%0D%21982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC1	rs246215	0.730631	0	0	1	0	0	intronic	intronic	intronic	ABCC1	ABCC1	ENSG00000103222	Na	Na	Na	Na	Na	Na	Het;T>C	268;12|8	Hom;T>C	1380;0|34
N	N	-	16	16116022	16116022	G	C	snp	intronic	 	 	 	 	ABCC1	Abcc1	ENSG00000278183	ATP binding cassette subfamily C member 1	chr16:16043434-16236931	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]	lung cancer; Psoriasis; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; asthma; esophageal adenocarcinoma; drug-related genes ; Chronic Obstructive Pulmonary Disease; ovarian cancer; Hypertension; Colorectal Neoplasms|Neutropenia; cardiotoxicity, anthracycline-induced; Arthritis, Rheumatoid|; colorectal cancer; Multiple Myeloma|Recurrence; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; GRACILE syndrome; cancer; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; pharmacogenetic studies; solid tumors; Type 2 Diabetes| edema | rosiglitazone; hypertension; 9-Hydroxyrisperidone and Risperidone; Pulmonary Disease, Chronic Obstructive; nelfinavir pharmacokinetics; lung cancer ; null; cystic fibrosis; atherosclerosis; Carcinoma, Hepatocellular|Liver Neoplasms	Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide.	ABC-family proteins mediated transport	GO:0006691;leukotriene metabolic process;TAS|GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IBA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IEA|GO:0034775;glutathione transmembrane transport;IBA|GO:0035461;vitamin transmembrane transport;IEA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IBA|GO:0055085;transmembrane transport;TAS|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;IBA|GO:0015420;cobalamin-transporting ATPase activity;TAS|GO:0015431;glutathione S-conjugate-exporting ATPase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0034634;glutathione transmembrane transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC1	https://www.uniprot.org/uniprot/P33527		https://www.ncbi.nlm.nih.gov/omim/?term=158343	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC1&submit=Quick%0D%21982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC1	rs246213	0.766773	0	0	1	0	0	intronic	intronic	intronic	ABCC1	ABCC1	ENSG00000103222	Na	Na	Na	Na	Na	Na	Het;G>C	123;3|5	Hom;G>C	71;0|4
N	N	-	16	16934295	16934295	T	C	snp	intergenic	 	 	 	 	AC092326.1																		rs16968824	0.123602	0	0	1	0	0	intergenic	intergenic	intergenic	NPIPA7(dist=446466),XYLT1(dist=261886)	NPIP(dist=446488),XYLT1(dist=261886)	ENSG00000260126(dist=176303),ENSG00000261748(dist=112064)	Na	Na	Na	Na	Na	Na	Het;T>C	199;3|8	Hom;T>C	842;0|30
N	N	-	16	1827836	1827836	T	C	snp	synonymous SNV	A249G	S83S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SPSB3	Spsb3	ENSG00000162032	splA/ryanodine receptor domain and SOCS box containing 3	chr16:1826713-1843701		obesity	 	Neddylation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPSB3			https://www.ncbi.nlm.nih.gov/omim/?term=611659	http://www.informatics.jax.org/searchtool/Search.do?query=SPSB3&submit=Quick%0D%10642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPSB3	rs1178432	0.852835	0.8999	0.8592	1	0	0	exonic	exonic	exonic	SPSB3	SPSB3	ENSG00000162032	synonymous SNV	synonymous SNV	unknown	SPSB3:NM_080861:exon6:c.A633G:p.S211S,	SPSB3:uc002cmt.3:exon5:c.A249G:p.S83S,SPSB3:uc031quq.1:exon3:c.A192G:p.S64S,SPSB3:uc002cmu.3:exon6:c.A633G:p.S211S,	UNKNOWN	Het;T>C	1539;98|76	Hom;T>C	3420;0|124
N	N	-	16	1831653	1831653	T	C	snp	UTR3	*3959T>C	 	 	 	EME2	Eme2	ENSG00000197774	essential meiotic structure-specific endonuclease subunit 2	chr16:1823208-1831709	EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]		 	Fanconi Anemia Pathway	GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IBA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0031297;replication fork processing;IBA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000790;nuclear chromatin;IBA|GO:0005634;nucleus;IEA|GO:0048476;Holliday junction resolvase complex;IBA	GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0008821;crossover junction endodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EME2			https://www.ncbi.nlm.nih.gov/omim/?term=610886	http://www.informatics.jax.org/searchtool/Search.do?query=EME2&submit=Quick%0D%16714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EME2	rs1178436	0.824481	0	0	1	0	0	intronic	intronic	UTR3	SPSB3	SPSB3	ENSG00000197774(ENST00000561903:c.*3959T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	39;2|2	Hom;T>C	176;0|6
N	N	-	16	1836709	1836709	G	C	snp	intronic	 	 	 	 	NUBP2	Nubp2	ENSG00000095906	nucleotide binding protein 2	chr16:1832902-1839192	This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]	lung cancer ; Insulin-Like Growth Factor Binding Protein 5; chronic obstructive pulmonary disease; lung cancer; bladder cancer	 	Cytosolic iron-sulfur cluster assembly	GO:0016226;iron-sulfur cluster assembly;IEA|GO:0030030;cell projection organization;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0031616;spindle pole centrosome;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUBP2	https://www.uniprot.org/uniprot/Q9Y5Y2		https://www.ncbi.nlm.nih.gov/omim/?term=610779	http://www.informatics.jax.org/searchtool/Search.do?query=NUBP2&submit=Quick%0D%2262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUBP2	rs2575351	0.816294	0.8553	0.8047	1	0	0	intronic	intronic	intronic	NUBP2	NUBP2	ENSG00000095906,ENSG00000162032	Na	Na	Na	Na	Na	Na	Het;G>C	843;35|39	Hom;G>C	1529;0|54
N	N	-	16	1838640	1838640	T	C	snp	nonsynonymous SNV	T295C	W99R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	NUBP2	Nubp2	ENSG00000095906	nucleotide binding protein 2	chr16:1832902-1839192	This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]	lung cancer ; Insulin-Like Growth Factor Binding Protein 5; chronic obstructive pulmonary disease; lung cancer; bladder cancer	 	Cytosolic iron-sulfur cluster assembly	GO:0016226;iron-sulfur cluster assembly;IEA|GO:0030030;cell projection organization;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0031616;spindle pole centrosome;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUBP2	https://www.uniprot.org/uniprot/Q9Y5Y2		https://www.ncbi.nlm.nih.gov/omim/?term=610779	http://www.informatics.jax.org/searchtool/Search.do?query=NUBP2&submit=Quick%0D%2262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUBP2	rs344359	0.822883	0.8595	0.8145	1	0	0	exonic	exonic	exonic	NUBP2	NUBP2	ENSG00000095906	nonsynonymous SNV	synonymous SNV	unknown	NUBP2:NM_001284502:exon6:c.T295C:p.W99R,	NUBP2:uc002cmw.4:exon7:c.T741C:p.P247P,NUBP2:uc002cmx.4:exon6:c.T318C:p.P106P,	UNKNOWN	Het;T>C	1594;60|74	Hom;T>C	3309;0|128
N	N	-	16	1839023	1839023	G	A	snp	UTR3	*308G>A	 	 	 	NUBP2	Nubp2	ENSG00000095906	nucleotide binding protein 2	chr16:1832902-1839192	This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]	lung cancer ; Insulin-Like Growth Factor Binding Protein 5; chronic obstructive pulmonary disease; lung cancer; bladder cancer	 	Cytosolic iron-sulfur cluster assembly	GO:0016226;iron-sulfur cluster assembly;IEA|GO:0030030;cell projection organization;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0031616;spindle pole centrosome;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUBP2	https://www.uniprot.org/uniprot/Q9Y5Y2		https://www.ncbi.nlm.nih.gov/omim/?term=610779	http://www.informatics.jax.org/searchtool/Search.do?query=NUBP2&submit=Quick%0D%2262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUBP2	rs1065663	0.822085	0	0	1	0	0	UTR3	UTR3	UTR3	NUBP2(NM_012225:c.*308G>A,NM_001284501:c.*308G>A,NM_001284502:c.*9G>A)	NUBP2(uc002cmw.4:c.*308G>A,uc002cmx.4:c.*308G>A)	ENSG00000095906(ENST00000262302:c.*308G>A,ENST00000568834:c.*784G>A,ENST00000543305:c.*308G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	2218;110|111	Hom;G>A	4269;0|152
N	N	-	16	1839134	1839134	T	C	snp	UTR3	*419T>C	 	 	 	NUBP2	Nubp2	ENSG00000095906	nucleotide binding protein 2	chr16:1832902-1839192	This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]	lung cancer ; Insulin-Like Growth Factor Binding Protein 5; chronic obstructive pulmonary disease; lung cancer; bladder cancer	 	Cytosolic iron-sulfur cluster assembly	GO:0016226;iron-sulfur cluster assembly;IEA|GO:0030030;cell projection organization;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0031616;spindle pole centrosome;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUBP2	https://www.uniprot.org/uniprot/Q9Y5Y2		https://www.ncbi.nlm.nih.gov/omim/?term=610779	http://www.informatics.jax.org/searchtool/Search.do?query=NUBP2&submit=Quick%0D%2262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUBP2	rs1065666	0.823682	0	0	1	0	0	UTR3	UTR3	UTR3	NUBP2(NM_012225:c.*419T>C,NM_001284501:c.*419T>C,NM_001284502:c.*120T>C)	NUBP2(uc002cmw.4:c.*419T>C,uc002cmx.4:c.*419T>C)	ENSG00000095906(ENST00000262302:c.*419T>C,ENST00000568834:c.*895T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1605;78|70	Hom;T>C	3534;0|123
N	N	-	16	1839221	1839221	T	C	snp	downstream	 	 	 	 	NUBP2	Nubp2	ENSG00000095906	nucleotide binding protein 2	chr16:1832902-1839192	This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]	lung cancer ; Insulin-Like Growth Factor Binding Protein 5; chronic obstructive pulmonary disease; lung cancer; bladder cancer	 	Cytosolic iron-sulfur cluster assembly	GO:0016226;iron-sulfur cluster assembly;IEA|GO:0030030;cell projection organization;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0031616;spindle pole centrosome;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUBP2	https://www.uniprot.org/uniprot/Q9Y5Y2		https://www.ncbi.nlm.nih.gov/omim/?term=610779	http://www.informatics.jax.org/searchtool/Search.do?query=NUBP2&submit=Quick%0D%2262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUBP2	rs344360	0.823083	0	0	1	0	0	downstream	downstream	intronic	NUBP2	NUBP2	ENSG00000162032	Na	Na	Na	Na	Na	Na	Het;T>C	693;17|28	Hom;T>C	1369;0|50
N	N	-	16	1842209	1842209	A	G	snp	synonymous SNV	T210C	D70D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	IGFALS	Igfals	ENSG00000099769	insulin like growth factor binding protein acid labile subunit	chr16:1840414-1844972	The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]	lung cancer ; prostate cancer; lung cancer; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; breast cancer|prostate cancer; breast cancer; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Growth Disorders|Puberty, Delayed; chronic obstructive pulmonary disease; height; Growth Disorders; Breast Neoplasms|Mammary Neoplasms; Bone Mineral Density	Mice homozygous for disruptions in this gene gain weight more slowly after birth and display less growth in long bones.	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0042567;insulin-like growth factor ternary complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005520;insulin-like growth factor binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGFALS	https://www.uniprot.org/uniprot/P35858	https://hpo.jax.org/app/browse/search?q=IGFALS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601489	http://www.informatics.jax.org/searchtool/Search.do?query=IGFALS&submit=Quick%0D%2327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFALS	rs3751893	0.784145	0.8199	0.8018	0.40	2	5	exonic	exonic	exonic	IGFALS	IGFALS	ENSG00000099769	synonymous SNV	synonymous SNV	unknown	IGFALS:NM_001146006:exon2:c.T324C:p.D108D,IGFALS:NM_004970:exon2:c.T210C:p.D70D,	IGFALS:uc002cmy.3:exon2:c.T210C:p.D70D,IGFALS:uc010uvn.2:exon2:c.T324C:p.D108D,	UNKNOWN	Het;A>G	940;78|48	Hom;A>G	3298;0|121
N	N	-	16	1859432	1859432	G	C	snp	unknown	 	 	 	 	HAGH	Hagh	ENSG00000063854	hydroxyacylglutathione hydrolase	chr16:1845621-1877195	The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006750;glutathione biosynthetic process;IDA|GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAGH	https://www.uniprot.org/uniprot/Q16775		https://www.ncbi.nlm.nih.gov/omim/?term=138760	http://www.informatics.jax.org/searchtool/Search.do?query=HAGH&submit=Quick%0D%1113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAGH	rs1628812	0.736222	0.7690	0.7563	1	0	0	intronic	intronic	exonic	HAGH	HAGH	ENSG00000063854	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>C	251;16|12	Hom;G>C	652;0|25
N	N	-	16	1859476	1859476	G	A	snp	intronic	 	 	 	 	HAGH	Hagh	ENSG00000063854	hydroxyacylglutathione hydrolase	chr16:1845621-1877195	The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006750;glutathione biosynthetic process;IDA|GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAGH	https://www.uniprot.org/uniprot/Q16775		https://www.ncbi.nlm.nih.gov/omim/?term=138760	http://www.informatics.jax.org/searchtool/Search.do?query=HAGH&submit=Quick%0D%1113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAGH	rs1629513	0.720447	0	0.7406	1	0	0	intronic	intronic	intronic	HAGH	HAGH	ENSG00000063854	Na	Na	Na	Na	Na	Na	Het;G>A	129;4|5	Hom;G>A	512;0|12
N	N	-	16	1859482	1859482	A	C	snp	intronic	 	 	 	 	HAGH	Hagh	ENSG00000063854	hydroxyacylglutathione hydrolase	chr16:1845621-1877195	The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006750;glutathione biosynthetic process;IDA|GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAGH	https://www.uniprot.org/uniprot/Q16775		https://www.ncbi.nlm.nih.gov/omim/?term=138760	http://www.informatics.jax.org/searchtool/Search.do?query=HAGH&submit=Quick%0D%1113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAGH	rs1629534	0.588059	0	0.6878	1	0	0	intronic	intronic	intronic	HAGH	HAGH	ENSG00000063854	Na	Na	Na	Na	Na	Na	Het;A>C	83;5|3	Hom;A>C	512;0|12
N	N	-	16	1859730	1859730	G	A	snp	intronic	 	 	 	 	HAGH	Hagh	ENSG00000063854	hydroxyacylglutathione hydrolase	chr16:1845621-1877195	The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006750;glutathione biosynthetic process;IDA|GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAGH	https://www.uniprot.org/uniprot/Q16775		https://www.ncbi.nlm.nih.gov/omim/?term=138760	http://www.informatics.jax.org/searchtool/Search.do?query=HAGH&submit=Quick%0D%1113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAGH	rs2745199	0.710264	0.7599	0.7399	1	0	0	intronic	intronic	intronic	HAGH	HAGH	ENSG00000063854	Na	Na	Na	Na	Na	Na	Het;G>A	252;19|15	Hom;G>A	705;0|25
N	N	-	16	1859850	1859850	A	G	snp	intronic	 	 	 	 	HAGH	Hagh	ENSG00000063854	hydroxyacylglutathione hydrolase	chr16:1845621-1877195	The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006750;glutathione biosynthetic process;IDA|GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAGH	https://www.uniprot.org/uniprot/Q16775		https://www.ncbi.nlm.nih.gov/omim/?term=138760	http://www.informatics.jax.org/searchtool/Search.do?query=HAGH&submit=Quick%0D%1113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAGH	rs1742442	0.721845	0.7689	0.7432	1	0	0	intronic	intronic	intronic	HAGH	HAGH	ENSG00000063854	Na	Na	Na	Na	Na	Na	Het;A>G	485;19|24	Hom;A>G	1105;0|38
N	N	-	16	18828927	18828927	G	A	snp	intronic	 	 	 	 	SMG1	Smg1	ENSG00000157106	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	chr16:18816175-18937776	This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]		Mice homozygous for a gene trap allele exhibit early embryonic lethality. Mice heteroygous for a gene trap allele exhibit abnormal tooth development, chronic inflammation, increased body weight, increased incidence of tumor formation and premature death.	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006281;DNA repair;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006950;response to stress;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032204;regulation of telomere maintenance;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042162;telomeric DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SMG1			https://www.ncbi.nlm.nih.gov/omim/?term=607032	http://www.informatics.jax.org/searchtool/Search.do?query=SMG1&submit=Quick%0D%10055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMG1	rs2270505	0.108227	0	0	1	0	0	intronic	intronic	intronic	SMG1	SMG1	ENSG00000157106	Na	Na	Na	Na	Na	Na	Het;G>A	151;7|8	Hom;G>A	163;0|5
N	N	-	16	18875509	18875510	CT	C	indel	intronic	 	 	 	 	SMG1	Smg1	ENSG00000157106	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	chr16:18816175-18937776	This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]		Mice homozygous for a gene trap allele exhibit early embryonic lethality. Mice heteroygous for a gene trap allele exhibit abnormal tooth development, chronic inflammation, increased body weight, increased incidence of tumor formation and premature death.	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006281;DNA repair;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006950;response to stress;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032204;regulation of telomere maintenance;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042162;telomeric DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SMG1			https://www.ncbi.nlm.nih.gov/omim/?term=607032	http://www.informatics.jax.org/searchtool/Search.do?query=SMG1&submit=Quick%0D%10055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMG1	rs770290997	0	0	0.0418	1	0	0	intronic	intronic	intronic	SMG1	SMG1	ENSG00000157106	Na	Na	Na	Na	Na	Na	Het;-T	890;20|34	Hom;-T	411;4|27
N	N	-	16	1907652	1907652	G	A	snp	intronic	 	 	 	 	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs428123	0.815495	0	0	1	0	0	intronic	intronic	intronic	MEIOB	MEIOB	ENSG00000162039	Na	Na	Na	Na	Na	Na	Het;G>A	81;7|4	Hom;G>A	218;0|7
N	N	-	16	1907701	1907701	A	C	snp	intronic	 	 	 	 	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs408286	0.816294	0.4529	0.8219	1	0	0	intronic	intronic	intronic	MEIOB	MEIOB	ENSG00000162039	Na	Na	Na	Na	Na	Na	Het;A>C	263;15|8	Hom;A>C	557;0|13
N	N	-	16	1907702	1907702	G	A	snp	intronic	 	 	 	 	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs427948	0.816294	0.4562	0.8218	1	0	0	intronic	intronic	intronic	MEIOB	MEIOB	ENSG00000162039	Na	Na	Na	Na	Na	Na	Het;G>A	263;15|8	Hom;G>A	557;0|13
N	N	-	16	1907946	1907946	C	T	snp	intronic	 	 	 	 	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs411193	0.815495	0.8406	0.8222	1	0	0	intronic	intronic	intronic	MEIOB	MEIOB	ENSG00000162039	Na	Na	Na	Na	Na	Na	Het;C>T	46;12|4	Hom;C>T	828;0|33
N	N	-	16	1910373	1910373	C	G	snp	intronic	 	 	 	 	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs433268	0.812899	0.8408	0.8220	1	0	0	intronic	intronic	intronic	MEIOB	MEIOB	ENSG00000162039	Na	Na	Na	Na	Na	Na	Het;C>G	1433;64|68	Hom;C>G	3860;0|139
N	N	-	16	1912139	1912139	T	C	snp	intronic	 	 	 	 	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs380846	0.792732	0.8399	0.8103	1	0	0	intronic	intronic	intronic	MEIOB	MEIOB	ENSG00000162039	Na	Na	Na	Na	Na	Na	Het;T>C	2232;63|98	Hom;T>C	3824;0|132
N	N	-	16	1917998	1917998	T	C	snp	intronic	 	 	 	 	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs1742444	0.8125	0	0	1	0	0	intronic	intronic	intronic	MEIOB	MEIOB	ENSG00000162039	Na	Na	Na	Na	Na	Na	Het;T>C	240;9|9	Hom;T>C	709;0|19
N	N	-	16	1918125	1918125	T	G	snp	nonsynonymous SNV	A52C	T18P	polar,hydrophilic,neutral	hydrophobic,neutral	MEIOB	Meiob	ENSG00000162039	meiosis specific with OB domains	chr16:1883984-1934295			Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis.		GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIOB		https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB	rs1742446	0.8125	0.8410	0.8204	0.23	3	13	exonic	exonic	exonic	MEIOB	MEIOB	ENSG00000162039	nonsynonymous SNV	nonsynonymous SNV	unknown	MEIOB:NM_152764:exon2:c.A52C:p.T18P,MEIOB:NM_001163560:exon2:c.A52C:p.T18P,	MEIOB:uc002cne.2:exon2:c.A52C:p.T18P,MEIOB:uc010uvq.1:exon2:c.A52C:p.T18P,	UNKNOWN	Het;T>G	2165;102|101	Hom;T>G	4562;0|170
N	N	-	16	19471665	19471665	T	C	snp	intronic	 	 	 	 	TMC5	Tmc5	ENSG00000103534	transmembrane channel like 5	chr16:19421818-19510435		Carcinoma, Squamous Cell|Esophageal Neoplasms; Tobacco Use Disorder; Triglycerides	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TMC5	https://www.uniprot.org/uniprot/Q6UXY8		https://www.ncbi.nlm.nih.gov/omim/?term=617197	http://www.informatics.jax.org/searchtool/Search.do?query=TMC5&submit=Quick%0D%3039ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC5	rs6497375	0.809904	0.7697	0.8222	1	0	0	intronic	intronic	intronic	TMC5	TMC5	ENSG00000103534	Na	Na	Na	Na	Na	Na	Het;T>C	1179;70|62	Hom;T>C	2968;0|111
N	N	-	16	2009852	2009852	G	C	snp	intronic	 	 	 	 	NDUFB10	Ndufb10	ENSG00000140990	NADH:ubiquinone oxidoreductase subunit B10	chr16:2009509-2011976		Aging/ Telomere Length; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; Heart Failure	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFB10	https://www.uniprot.org/uniprot/O96000	https://hpo.jax.org/app/browse/search?q=NDUFB10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603843	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFB10&submit=Quick%0D%8104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFB10	rs338788	0.154153	0	0	1	0	0	intronic	intronic	intronic	NDUFB10	NDUFB10	ENSG00000140990	Na	Na	Na	Na	Na	Na	Het;G>C	177;20|7	Hom;G>C	1262;0|33
N	N	-	16	2009862	2009862	G	GC	indel	intronic	 	 	 	 	NDUFB10	Ndufb10	ENSG00000140990	NADH:ubiquinone oxidoreductase subunit B10	chr16:2009509-2011976		Aging/ Telomere Length; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; Heart Failure	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFB10	https://www.uniprot.org/uniprot/O96000	https://hpo.jax.org/app/browse/search?q=NDUFB10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603843	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFB10&submit=Quick%0D%8104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFB10	rs11382929	0	0	0	1	0	0	intronic	intronic	intronic	NDUFB10	NDUFB10	ENSG00000140990	Na	Na	Na	Na	Na	Na	Het;+C	137;16|6	Hom;+C	1126;0|28
N	N	-	16	2009870	2009870	C	G	snp	intronic	 	 	 	 	NDUFB10	Ndufb10	ENSG00000140990	NADH:ubiquinone oxidoreductase subunit B10	chr16:2009509-2011976		Aging/ Telomere Length; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; Heart Failure	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFB10	https://www.uniprot.org/uniprot/O96000	https://hpo.jax.org/app/browse/search?q=NDUFB10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603843	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFB10&submit=Quick%0D%8104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFB10	rs338789	0.154153	0	0	1	0	0	intronic	intronic	intronic	NDUFB10	NDUFB10	ENSG00000140990	Na	Na	Na	Na	Na	Na	Het;C>G	180;12|6	Hom;C>G	962;0|22
N	N	-	16	2011082	2011082	T	C	snp	intronic	 	 	 	 	NDUFB10	Ndufb10	ENSG00000140990	NADH:ubiquinone oxidoreductase subunit B10	chr16:2009509-2011976		Aging/ Telomere Length; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; Heart Failure	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFB10	https://www.uniprot.org/uniprot/O96000	https://hpo.jax.org/app/browse/search?q=NDUFB10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603843	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFB10&submit=Quick%0D%8104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFB10	rs731198	0.150559	0	0	1	0	0	intronic	intronic	intronic	NDUFB10	NDUFB10	ENSG00000140990	Na	Na	Na	Na	Na	Na	Het;T>C	482;8|19	Hom;T>C	659;0|20
N	N	-	16	2013316	2013316	A	C	snp	intronic	 	 	 	 	RPS2	Rps2	ENSG00000140988	ribosomal protein S2	chr16:2012053-2014861	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006479;protein methylation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0051347;positive regulation of transferase activity;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0003735;structural constituent of ribosome;IDA|GO:0005515;protein binding;IPI|GO:0017134;fibroblast growth factor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPS2	https://www.uniprot.org/uniprot/P15880		https://www.ncbi.nlm.nih.gov/omim/?term=603624	http://www.informatics.jax.org/searchtool/Search.do?query=RPS2&submit=Quick%0D%8103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS2	rs72764889	0.14996	0	0	1	0	0	intronic	intronic	intronic	RPS2	RPS2	ENSG00000140988	Na	Na	Na	Na	Na	Na	Het;A>C	178;14|9	Hom;A>C	647;0|15
N	N	-	16	20376734	20376734	A	G	snp	intronic	 	 	 	 	PDILT	Pdilt	ENSG00000169340	protein disulfide isomerase like, testis expressed	chr16:20370492-20416059			Mice homozygous for a knock-out allele exhibit male infertility and abnormal sperm physiology.		GO:0006457;protein folding;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0016477;cell migration;IEA|GO:0019511;peptidyl-proline hydroxylation;IEA|GO:0030154;cell differentiation;IEA|GO:0034976;response to endoplasmic reticulum stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IBA	GO:0005783;endoplasmic reticulum;IEA	GO:0003756;protein disulfide isomerase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0031545;peptidyl-proline 4-dioxygenase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PDILT				http://www.informatics.jax.org/searchtool/Search.do?query=PDILT&submit=Quick%0D%12474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDILT	rs8052918	0.477835	0.6016	0.5422	1	0	0	intronic	intronic	intronic	PDILT	PDILT	ENSG00000169340	Na	Na	Na	Na	Na	Na	Het;A>G	530;47|28	Hom;A>G	1558;2|57
N	N	-	16	20376755	20376755	T	C	snp	synonymous SNV	A1224G	V408V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDILT	Pdilt	ENSG00000169340	protein disulfide isomerase like, testis expressed	chr16:20370492-20416059			Mice homozygous for a knock-out allele exhibit male infertility and abnormal sperm physiology.		GO:0006457;protein folding;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0016477;cell migration;IEA|GO:0019511;peptidyl-proline hydroxylation;IEA|GO:0030154;cell differentiation;IEA|GO:0034976;response to endoplasmic reticulum stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IBA	GO:0005783;endoplasmic reticulum;IEA	GO:0003756;protein disulfide isomerase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0031545;peptidyl-proline 4-dioxygenase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PDILT				http://www.informatics.jax.org/searchtool/Search.do?query=PDILT&submit=Quick%0D%12474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDILT	rs8054266	0.471446	0.6013	0.5394	1	0	0	exonic	exonic	exonic	PDILT	PDILT	ENSG00000169340	synonymous SNV	synonymous SNV	unknown	PDILT:NM_174924:exon9:c.A1224G:p.V408V,	PDILT:uc002dhc.1:exon9:c.A1224G:p.V408V,	UNKNOWN	Het;T>C	798;73|44	Hom;T>C	1835;1|67
N	N	-	16	20488803	20488803	T	A	snp	intronic	 	 	 	 	ACSM2A	Acsm2	ENSG00000183747	acyl-CoA synthetase medium chain family member 2A	chr16:20462783-20498991		Acquired Immunodeficiency Syndrome|Disease Progression	 	Conjugation of salicylate with glycine	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0008152;metabolic process;IEA|GO:0036112;medium-chain fatty-acyl-CoA metabolic process;IDA|GO:0042593;glucose homeostasis;NAS|GO:0070328;triglyceride homeostasis;NAS	GO:0005739;mitochondrion;NAS|GO:0005759;mitochondrial matrix;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;IBA|GO:0004321;fatty-acyl-CoA synthase activity;IBA|GO:0005524;ATP binding;IEA|GO:0015645;fatty acid ligase activity;IBA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047760;butyrate-CoA ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ACSM2A			https://www.ncbi.nlm.nih.gov/omim/?term=614358	http://www.informatics.jax.org/searchtool/Search.do?query=ACSM2A&submit=Quick%0D%15063ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSM2A	rs1634306	0.38758	0	0.5019	1	0	0	intronic	intronic	intronic	ACSM2A	ACSM2A	ENSG00000183747	Na	Na	Na	Na	Na	Na	Het;T>A	645;59|37	Hom;T>A	2109;1|80
N	N	-	16	20686633	20686633	T	C	snp	intronic	 	 	 	 	ACSM1	Acsm1	ENSG00000166743	acyl-CoA synthetase medium chain family member 1	chr16:20634559-20710212		Type 2 Diabetes| edema | rosiglitazone; Schizophrenia; schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; cholesterol, HDL; hypertension	 	Conjugation of phenylacetate with glutamine	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006637;acyl-CoA metabolic process;IBA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0015980;energy derivation by oxidation of organic compounds;NAS|GO:0018874;benzoate metabolic process;NAS|GO:0019395;fatty acid oxidation;NAS|GO:0019605;butyrate metabolic process;NAS|GO:0042632;cholesterol homeostasis;NAS	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;IDA|GO:0004321;fatty-acyl-CoA synthase activity;IBA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0015645;fatty acid ligase activity;IEA|GO:0016405;CoA-ligase activity;TAS|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047760;butyrate-CoA ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ACSM1			https://www.ncbi.nlm.nih.gov/omim/?term=614357	http://www.informatics.jax.org/searchtool/Search.do?query=ACSM1&submit=Quick%0D%11855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSM1	rs163257	0.438498	0	0	1	0	0	intronic	intronic	intronic	ACSM1	ACSM1	ENSG00000005187,ENSG00000166743	Na	Na	Na	Na	Na	Na	Het;T>C	170;5|9	Hom;T>C	155;0|6
N	N	-	16	20750133	20750133	G	A	snp	intronic	 	 	 	 	THUMPD1	Thumpd1	ENSG00000066654	THUMP domain containing 1	chr16:20744986-20753406			 	rRNA modification in the nucleus and cytosol	GO:0000154;rRNA modification;TAS|GO:0006400;tRNA modification;IBA	GO:0005654;nucleoplasm;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/THUMPD1	https://www.uniprot.org/uniprot/Q9NXG2		https://www.ncbi.nlm.nih.gov/omim/?term=616662	http://www.informatics.jax.org/searchtool/Search.do?query=THUMPD1&submit=Quick%0D%1228ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THUMPD1	rs2301769	0.193091	0	0	1	0	0	intronic	intronic	intronic	THUMPD1	THUMPD1	ENSG00000005187,ENSG00000066654	Na	Na	Na	Na	Na	Na	Het;G>A	133;3|5	Hom;G>A	270;0|10
N	N	-	16	21210312	21210312	C	T	snp	ncRNA_intronic	 	 	 	 	AF001550.1																		rs16971210	0.24361	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ZP2	ZP2	ENSG00000262983	Na	Na	Na	Na	Na	Na	Het;C>T	125;4|5	Hom;C>T	113;0|4
N	N	-	16	2154478	2154478	A	G	snp	intronic	 	 	 	 	PKD1	Pkd1	ENSG00000008710	polycystin 1, transient receptor potential channel interacting	chr16:2138711-2185899	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]	stroke, hemorrhagic stroke, ischemic; polycystic kidney disease; Hypertension|Polycystic Kidney, Autosomal Dominant; Alcoholism; polycystic kidney disease 1; Caroli's disease; renal disease	Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.	VxPx cargo-targeting to cilium	GO:0001502;cartilage condensation;IEA|GO:0001568;blood vessel development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0006611;protein export from nucleus;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0006816;calcium ion transport;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;TAS|GO:0007160;cell-matrix adhesion;TAS|GO:0007161;calcium-independent cell-matrix adhesion;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007259;JAK-STAT cascade;IEA|GO:0007507;heart development;IEP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0021510;spinal cord development;IEP|GO:0021915;neural tube development;IEP|GO:0030010;establishment of cell polarity;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032092;positive regulation of protein binding;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0036303;lymph vessel morphogenesis;IEA|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0043588;skin development;IEP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048565;digestive tract development;IEP|GO:0048754;branching morphogenesis of an epithelial tube;IDA|GO:0048806;genitalia development;IEP|GO:0050982;detection of mechanical stimulus;IEA|GO:0051216;cartilage development;IEP|GO:0060236;regulation of mitotic spindle organization;IEA|GO:0060428;lung epithelium development;IEP|GO:0060674;placenta blood vessel development;IEA|GO:0061136;regulation of proteasomal protein catabolic process;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072001;renal system development;IEA|GO:0072164;mesonephric tubule development;IEP|GO:0072177;mesonephric duct development;IEP|GO:0072205;metanephric collecting duct development;IEP|GO:0072218;metanephric ascending thin limb development;IEP|GO:0072237;metanephric proximal tubule development;IEP|GO:0072287;metanephric distal tubule morphogenesis;IEP	GO:0000139;Golgi membrane;TAS|GO:0002133;polycystin complex;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;TAS|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1	https://www.uniprot.org/uniprot/P98161	https://hpo.jax.org/app/browse/search?q=PKD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601313	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1&submit=Quick%0D%487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1	rs4786209	0.632588	0	0.6267	1	0	0	intronic	intronic	intronic	PKD1	PKD1	ENSG00000008710	Na	Na	Na	Na	Na	Na	Het;A>G	566;49|29	Hom;A>G	1525;0|60
N	N	-	16	22328094	22328094	G	T	snp	intronic	 	 	 	 	POLR3E	Polr3e	ENSG00000284282	RNA polymerase III subunit E	chr16:22308730-22346424			 					http://www.genecards.org/index.php?path=/Search/keyword/POLR3E	https://www.uniprot.org/uniprot/Q9NVU0			http://www.informatics.jax.org/searchtool/Search.do?query=POLR3E&submit=Quick%0D%22969ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR3E	rs2290830	0.313898	0	0	1	0	0	intronic	intronic	intronic	POLR3E	POLR3E	ENSG00000058600	Na	Na	Na	Na	Na	Na	Het;G>T	302;18|15	Hom;G>T	704;3|29
N	N	-	16	22345191	22345191	G	A	snp	UTR3	*170G>A	 	 	 	POLR3E	Polr3e	ENSG00000284282	RNA polymerase III subunit E	chr16:22308730-22346424			 					http://www.genecards.org/index.php?path=/Search/keyword/POLR3E	https://www.uniprot.org/uniprot/Q9NVU0			http://www.informatics.jax.org/searchtool/Search.do?query=POLR3E&submit=Quick%0D%22969ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR3E	rs7764	0.448882	0	0	1	0	0	UTR3	UTR3	UTR3	POLR3E(NM_001258034:c.*170G>A,NM_018119:c.*170G>A,NM_001258036:c.*170G>A,NM_001258035:c.*170G>A,NM_001258033:c.*170G>A)	POLR3E(uc010vbt.3:c.*170G>A,uc002dkk.4:c.*170G>A,uc002dkm.4:c.*170G>A,uc010vbr.3:c.*170G>A,uc002dkl.4:c.*170G>A,uc010vbs.3:c.*170G>A)	ENSG00000058600(ENST00000299853:c.*170G>A,ENST00000564209:c.*170G>A,ENST00000418581:c.*170G>A,ENST00000359210:c.*170G>A,ENST00000564750:c.*1968G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1570;99|78	Hom;G>A	4883;0|183
N	N	-	16	23390201	23390201	G	C	snp	intronic	 	 	 	 	SCNN1B	Scnn1b	ENSG00000168447	sodium channel epithelial 1 beta subunit	chr16:23289552-23392620	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]	preeclampsia; diuresis; preeclampsia; eclampsia; Hyperparathyroidism, Secondary; blood pressure; hypertension; Hypertension|Hypotension; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Edema; Type 2 Diabetes| edema | rosiglitazone; Cystic Fibrosis; blood pressure, arterial; Hypertension; cystic fibrosis; atherosclerosis	Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype.	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0035725;sodium ion transmembrane transport;IDA|GO:0050891;multicellular organismal water homeostasis;IDA|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA|GO:0055078;sodium ion homeostasis;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034706;sodium channel complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015280;ligand-gated sodium channel activity;TAS|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCNN1B		https://hpo.jax.org/app/browse/search?q=SCNN1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600760	http://www.informatics.jax.org/searchtool/Search.do?query=SCNN1B&submit=Quick%0D%12271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCNN1B	rs2303153	0.720248	0	0	1	0	0	intronic	intronic	intronic	SCNN1B	SCNN1B	ENSG00000168447	Na	Na	Na	Na	Na	Na	Het;G>C	160;7|8	Hom;G>C	274;0|8
N	N	-	16	23486197	23486197	A	G	snp	intronic	 	 	 	 	GGA2	Gga2	ENSG00000103365	golgi associated, gamma adaptin ear containing, ARF binding protein 2	chr16:23474863-23533316	This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life.	Amyloid fiber formation	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031901;early endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GGA2	https://www.uniprot.org/uniprot/Q9UJY4		https://www.ncbi.nlm.nih.gov/omim/?term=606005	http://www.informatics.jax.org/searchtool/Search.do?query=GGA2&submit=Quick%0D%3016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA2	rs11074559	0.66254	0.7157	0.7505	1	0	0	intronic	intronic	intronic	GGA2	GGA2	ENSG00000103365	Na	Na	Na	Na	Na	Na	Het;A>G	490;17|23	Hom;A>G	1043;0|38
N	N	-	16	23489529	23489529	A	G	snp	intronic	 	 	 	 	GGA2	Gga2	ENSG00000103365	golgi associated, gamma adaptin ear containing, ARF binding protein 2	chr16:23474863-23533316	This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life.	Amyloid fiber formation	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031901;early endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GGA2	https://www.uniprot.org/uniprot/Q9UJY4		https://www.ncbi.nlm.nih.gov/omim/?term=606005	http://www.informatics.jax.org/searchtool/Search.do?query=GGA2&submit=Quick%0D%3016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA2	rs4968007	0	0	0	1	0	0	intronic	intronic	intronic	GGA2	GGA2	ENSG00000103365	Na	Na	Na	Na	Na	Na	Het;A>G	126;2|5	Hom;A>G	185;0|6
N	N	-	16	23489711	23489711	C	G	snp	nonsynonymous SNV	G1270C	A424P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	GGA2	Gga2	ENSG00000103365	golgi associated, gamma adaptin ear containing, ARF binding protein 2	chr16:23474863-23533316	This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life.	Amyloid fiber formation	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031901;early endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GGA2	https://www.uniprot.org/uniprot/Q9UJY4		https://www.ncbi.nlm.nih.gov/omim/?term=606005	http://www.informatics.jax.org/searchtool/Search.do?query=GGA2&submit=Quick%0D%3016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA2	rs1135045	0.676318	0.7300	0.7564	0.08	1	13	exonic	exonic	exonic	GGA2	GGA2	ENSG00000103365	nonsynonymous SNV	nonsynonymous SNV	unknown	GGA2:NM_015044:exon13:c.G1270C:p.A424P,	GGA2:uc002dlq.3:exon13:c.G1270C:p.A424P,	UNKNOWN	Het;C>G	1576;71|72	Hom;C>G	2872;0|104
N	N	-	16	23506940	23506940	G	A	snp	intronic	 	 	 	 	GGA2	Gga2	ENSG00000103365	golgi associated, gamma adaptin ear containing, ARF binding protein 2	chr16:23474863-23533316	This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life.	Amyloid fiber formation	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031901;early endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GGA2	https://www.uniprot.org/uniprot/Q9UJY4		https://www.ncbi.nlm.nih.gov/omim/?term=606005	http://www.informatics.jax.org/searchtool/Search.do?query=GGA2&submit=Quick%0D%3016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA2	rs722069	0.64996	0	0	1	0	0	intronic	intronic	intronic	GGA2	GGA2	ENSG00000103365	Na	Na	Na	Na	Na	Na	Het;G>A	325;10|12	Hom;G>A	470;0|13
N	N	-	16	23521643	23521643	G	C	snp	synonymous SNV	C90G	L30L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GGA2	Gga2	ENSG00000103365	golgi associated, gamma adaptin ear containing, ARF binding protein 2	chr16:23474863-23533316	This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life.	Amyloid fiber formation	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031901;early endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GGA2	https://www.uniprot.org/uniprot/Q9UJY4		https://www.ncbi.nlm.nih.gov/omim/?term=606005	http://www.informatics.jax.org/searchtool/Search.do?query=GGA2&submit=Quick%0D%3016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA2	rs1071685	0.690895	0	0.7494	1	0	0	exonic	exonic	exonic	GGA2	GGA2	ENSG00000103365	synonymous SNV	synonymous SNV	unknown	GGA2:NM_015044:exon1:c.C90G:p.L30L,	GGA2:uc002dlq.3:exon1:c.C90G:p.L30L,	UNKNOWN	Het;G>C	83;5|5	Hom;G>C	501;0|20
N	N	-	16	23534098	23534098	G	A	snp	UTR3	*1594C>T	 	 	 	EARS2	Ears2	ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial	chr16:23533335-23569052	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006424;glutamyl-tRNA aminoacylation;IDA|GO:0043039;tRNA aminoacylation;IEA|GO:0070127;tRNA aminoacylation for mitochondrial protein translation;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004818;glutamate-tRNA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA|GO:0050561;glutamate-tRNA(Gln) ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EARS2	https://www.uniprot.org/uniprot/Q5JPH6	https://hpo.jax.org/app/browse/search?q=EARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612799	http://www.informatics.jax.org/searchtool/Search.do?query=EARS2&submit=Quick%0D%3014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EARS2	rs9707	0.786941	0	0	1	0	0	UTR3	UTR3	UTR3	EARS2(NM_001083614:c.*1594C>T)	EARS2(uc002dlt.4:c.*1594C>T)	ENSG00000103356(ENST00000449606:c.*1594C>T,ENST00000563459:c.*1501C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	2173;104|99	Hom;G>A	4700;4|171
N	N	-	16	23534249	23534249	G	C	snp	UTR3	*1443C>G	 	 	 	EARS2	Ears2	ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial	chr16:23533335-23569052	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006424;glutamyl-tRNA aminoacylation;IDA|GO:0043039;tRNA aminoacylation;IEA|GO:0070127;tRNA aminoacylation for mitochondrial protein translation;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004818;glutamate-tRNA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA|GO:0050561;glutamate-tRNA(Gln) ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EARS2	https://www.uniprot.org/uniprot/Q5JPH6	https://hpo.jax.org/app/browse/search?q=EARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612799	http://www.informatics.jax.org/searchtool/Search.do?query=EARS2&submit=Quick%0D%3014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EARS2	rs6497669	0.786941	0	0	1	0	0	UTR3	UTR3	UTR3	EARS2(NM_001083614:c.*1443C>G)	EARS2(uc002dlt.4:c.*1443C>G)	ENSG00000103356(ENST00000449606:c.*1443C>G,ENST00000563459:c.*1350C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	1611;78|68	Hom;G>C	4425;0|144
N	N	-	16	23535307	23535312	CTCTGT	C	indel	UTR3	*385_*380delinsG	 	 	 	EARS2	Ears2	ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial	chr16:23533335-23569052	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006424;glutamyl-tRNA aminoacylation;IDA|GO:0043039;tRNA aminoacylation;IEA|GO:0070127;tRNA aminoacylation for mitochondrial protein translation;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004818;glutamate-tRNA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA|GO:0050561;glutamate-tRNA(Gln) ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EARS2	https://www.uniprot.org/uniprot/Q5JPH6	https://hpo.jax.org/app/browse/search?q=EARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612799	http://www.informatics.jax.org/searchtool/Search.do?query=EARS2&submit=Quick%0D%3014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EARS2	rs3071379	0.673123	0	0	1	0	0	UTR3	UTR3	UTR3	EARS2(NM_001083614:c.*385_*380delinsG)	EARS2(uc002dlt.4:c.*385_*380delinsG)	ENSG00000103356(ENST00000449606:c.*385_*380delinsG,ENST00000563459:c.*385_*380delinsG)	Na	Na	Na	Na	Na	Na	Het;-TCTGT	1602;56|44	Hom;-TCTGT	4153;0|94
N	N	-	16	23540798	23540798	C	T	snp	intronic	 	 	 	 	EARS2	Ears2	ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial	chr16:23533335-23569052	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006424;glutamyl-tRNA aminoacylation;IDA|GO:0043039;tRNA aminoacylation;IEA|GO:0070127;tRNA aminoacylation for mitochondrial protein translation;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004818;glutamate-tRNA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA|GO:0050561;glutamate-tRNA(Gln) ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EARS2	https://www.uniprot.org/uniprot/Q5JPH6	https://hpo.jax.org/app/browse/search?q=EARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612799	http://www.informatics.jax.org/searchtool/Search.do?query=EARS2&submit=Quick%0D%3014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EARS2	rs2072062	0.688698	0.7535	0.7598	1	0	0	intronic	intronic	intronic	EARS2	EARS2	ENSG00000103356	Na	Na	Na	Na	Na	Na	Het;C>T	699;66|37	Hom;C>T	1728;0|65
N	N	-	16	23541223	23541223	G	A	snp	intronic	 	 	 	 	EARS2	Ears2	ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial	chr16:23533335-23569052	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006424;glutamyl-tRNA aminoacylation;IDA|GO:0043039;tRNA aminoacylation;IEA|GO:0070127;tRNA aminoacylation for mitochondrial protein translation;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004818;glutamate-tRNA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA|GO:0050561;glutamate-tRNA(Gln) ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EARS2	https://www.uniprot.org/uniprot/Q5JPH6	https://hpo.jax.org/app/browse/search?q=EARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612799	http://www.informatics.jax.org/searchtool/Search.do?query=EARS2&submit=Quick%0D%3014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EARS2	rs2072061	0.673123	0.7368	0.7557	1	0	0	intronic	intronic	intronic	EARS2	EARS2	ENSG00000103356	Na	Na	Na	Na	Na	Na	Het;G>A	297;17|16	Hom;G>A	1188;0|42
N	N	-	16	23563501	23563501	C	T	snp	synonymous SNV	G264A	A88A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EARS2	Ears2	ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial	chr16:23533335-23569052	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006424;glutamyl-tRNA aminoacylation;IDA|GO:0043039;tRNA aminoacylation;IEA|GO:0070127;tRNA aminoacylation for mitochondrial protein translation;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004818;glutamate-tRNA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA|GO:0050561;glutamate-tRNA(Gln) ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EARS2	https://www.uniprot.org/uniprot/Q5JPH6	https://hpo.jax.org/app/browse/search?q=EARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612799	http://www.informatics.jax.org/searchtool/Search.do?query=EARS2&submit=Quick%0D%3014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EARS2	rs7187920	0.67472	0.7343	0.7561	1	0	0	exonic	exonic	exonic	EARS2	EARS2	ENSG00000103356	synonymous SNV	synonymous SNV	unknown	EARS2:NM_001083614:exon2:c.G264A:p.A88A,	EARS2:uc002dlu.3:exon2:c.G264A:p.A88A,EARS2:uc002dlt.4:exon2:c.G264A:p.A88A,	UNKNOWN	Het;C>T	680;41|35	Hom;C>T	1147;0|42
N	N	-	16	23847797	23847797	G	C	snp	intronic	 	 	 	 	PRKCB	Prkcb	ENSG00000166501	protein kinase C beta	chr16:23847322-24231932	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	diabetes, type 2; nephropathy, diabetic; Hepatopulmonary Syndrome|Liver Cirrhosis; Arthritis, Rheumatoid; Body Height; Type 2 diabetes; diabetes, type 1 ; Myocardial Infarction; nephropathy in other diseases; autism; Type 2 Diabetes| edema | rosiglitazone; Epilepsies, Partial|Syndrome; Tobacco Use Disorder; Audiometry, Pure-Tone; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Sleep	Mice homozygous for a null allele exhibit impaired humoral immune responses, altered proliferative responses of B cells to various stimuli, abnormal vascular wound healing, and deficits in contextual and cued fear conditioning. ENU-induced mutations leadto impaired T cell-independent IgM responses.	RUNX1 regulates transcription of genes involved in differentiation of myeloid cells	GO:0001666;response to hypoxia;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006915;apoptotic process;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007165;signal transduction;NAS|GO:0010829;negative regulation of glucose transport;ISS|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0035408;histone H3-T6 phosphorylation;IDA|GO:0035556;intracellular signal transduction;IBA|GO:0042113;B cell activation;ISS|GO:0042953;lipoprotein transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0045766;positive regulation of angiogenesis;ISS|GO:0046627;negative regulation of insulin receptor signaling pathway;ISS|GO:0050853;B cell receptor signaling pathway;ISS|GO:0050861;positive regulation of B cell receptor signaling pathway;ISS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;ISS|GO:0071322;cellular response to carbohydrate stimulus;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;TAS|GO:0004698;calcium-dependent protein kinase C activity;TAS|GO:0005080;protein kinase C binding;IPI|GO:0005246;calcium channel regulator activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IMP|GO:0035403;histone kinase activity (H3-T6 specific);IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRKCB			https://www.ncbi.nlm.nih.gov/omim/?term=176970	http://www.informatics.jax.org/searchtool/Search.do?query=PRKCB&submit=Quick%0D%11809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCB	rs7184949	0.722444	0	0	1	0	0	intronic	intronic	intronic	PRKCB	PRKCB	ENSG00000166501	Na	Na	Na	Na	Na	Na	Het;G>C	257;3|7	Hom;G>C	222;0|5
N	N	-	16	242770	242770	A	G	snp	intronic	 	 	 	 	LUC7L	Luc7l	ENSG00000007392	LUC7 like	chr16:238968-279462	The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a mutant allele producing a truncated product lacked any obvious phenotypic abnormalities.		GO:0006376;mRNA splice site selection;IBA|GO:0045843;negative regulation of striated muscle tissue development;IEA	GO:0005634;nucleus;IEA|GO:0005685;U1 snRNP;IBA|GO:0071004;U2-type prespliceosome;IBA	GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050733;RS domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LUC7L	https://www.uniprot.org/uniprot/Q9NQ29		https://www.ncbi.nlm.nih.gov/omim/?term=607782	http://www.informatics.jax.org/searchtool/Search.do?query=LUC7L&submit=Quick%0D%447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LUC7L	rs7185345	0.457867	0	0	1	0	0	intronic	intronic	intronic	LUC7L	LUC7L	ENSG00000007392	Na	Na	Na	Na	Na	Na	Het;A>G	106;2|5	Hom;A>G	127;0|5
N	N	-	16	24741686	24741686	T	C	snp	intronic	 	 	 	 	TNRC6A	Tnrc6a	ENSG00000090905	trinucleotide repeat containing 6A	chr16:24741016-24838953	This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit partial embryonic lethality during organogenesis associated with impaired hematopoiesis.	Competing endogenous RNAs (ceRNAs) regulate PTEN translation	GO:0006417;regulation of translation;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0031047;gene silencing by RNA;IEA|GO:0035194;posttranscriptional gene silencing by RNA;TAS|GO:0035195;gene silencing by miRNA;IMP|GO:0035278;miRNA mediated inhibition of translation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS	GO:0000932;P-body;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0035068;micro-ribonucleoprotein complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNRC6A	https://www.uniprot.org/uniprot/Q8NDV7		https://www.ncbi.nlm.nih.gov/omim/?term=610739	http://www.informatics.jax.org/searchtool/Search.do?query=TNRC6A&submit=Quick%0D%2123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNRC6A	rs7202252	0.773363	0.7179	0	1	0	0	intronic	intronic	intronic	TNRC6A	TNRC6A	ENSG00000090905	Na	Na	Na	Na	Na	Na	Het;T>C	530;12|25	Hom;T>C	1109;0|43
N	N	-	16	24888646	24888646	T	C	snp	nonsynonymous SNV	T353C	V118A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC5A11	Slc5a11	ENSG00000158865	solute carrier family 5 member 11	chr16:24857162-24922949	Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]	longevity; Tobacco Use Disorder; Lupus Erythematosus, Systemic	 	Inositol transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015791;polyol transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;IBA|GO:0015166;polyol transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A11			https://www.ncbi.nlm.nih.gov/omim/?term=610238	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A11&submit=Quick%0D%10265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A11	rs11074656	0.178914	0.2994	0.2898	0.31	4	13	exonic	exonic	exonic	SLC5A11	SLC5A11	ENSG00000158865	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC5A11:NM_001258413:exon7:c.T353C:p.V118A,SLC5A11:NM_001258412:exon6:c.T335C:p.V112A,SLC5A11:NM_052944:exon7:c.T545C:p.V182A,SLC5A11:NM_001258411:exon7:c.T440C:p.V147A,SLC5A11:NM_001258414:exon7:c.T353C:p.V118A,	SLC5A11:uc010vcd.3:exon7:c.T440C:p.V147A,SLC5A11:uc002dmu.4:exon7:c.T545C:p.V182A,SLC5A11:uc002dmt.4:exon7:c.T353C:p.V118A,SLC5A11:uc002dms.4:exon7:c.T353C:p.V118A,SLC5A11:uc010bxt.4:exon9:c.T353C:p.V118A,SLC5A11:uc010vce.3:exon6:c.T335C:p.V112A,	UNKNOWN	Het;T>C	813;46|42	Hom;T>C	2400;2|86
N	N	-	16	25043277	25043277	G	A	snp	ncRNA_exonic	 	 	 	 	LOC554206																		rs11074669	0.536342	0	0.6259	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC554206	LOC554206	ENSG00000262587	Na	Na	Na	Na	Na	Na	Het;G>A	2739;92|121	Hom;G>A	6128;0|217
N	N	-	16	25078740	25078740	T	G	snp	ncRNA_exonic	 	 	 	 	LINC02175																		rs16974327	0.277356	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	LOC554206(dist=34642),LCMT1-AS1(dist=33145)	BC023651	ENSG00000262155	Na	Na	Na	Na	Na	Na	Het;T>G	2143;122|103	Hom;T>G	6506;3|242
N	N	-	16	27356359	27356359	C	T	snp	intronic	 	 	 	 	IL4R	Il4ra	ENSG00000077238	interleukin 4 receptor	chr16:27324989-27376099	This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]	osteoarthritis; allergic rhinitis; pemphigus vulgaris; Alzheimer's disease; allergies; common cold; Glioblastoma|Hypersensitivity; Normal volunteers; Asthma|Rhinitis, Allergic, Seasonal; eczema food allergy IgE; normal variation; Anemia, Sickle Cell|Apoplexy|Sickle cell anemia|Stroke; Arthritis, Rheumatoid|Rheumatoid Arthritis; Coronary Artery Disease|Inflammation; diabetes, type 2; Graves Disease|Graves' Disease; multiple sclerosis; Helicobacter Infections; IgE; allergic reaction, betalactam; arthritis; Critical Illness|Sepsis|Systemic infection|Wounds and Injuries; lung function; atopic eczema; vaccine response; Brain Ischemia|Inflammation|Stroke; renal allograft outcome; asthma bronchodilator response IgE lung function; disc disease, intervertebral; Malaria, Falciparum; Immunoglobulin E; Brain Ischemia|Stroke; atopy; interstitial cystitis; Sepsis|Systemic infection; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; Blood Coagulation Disorders|Inflammation|Nervous System Diseases; allergy; atopy and influence the signal transduction; Cervical Neoplasm|Uterine Cervical Neoplasms; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Atopy; hyper-IgE syndrome and severe eczema. atopy; IL4R allele frequency; multiple sclerosis(PPmultiple sclerosis); panencephalitis, subacute sclerosing; pemphigus; Arthritis, Psoriatic|; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds; Adenocarcinoma|Hypersensitivity|pancreatic neoplasm|Pancreatic Neoplasms; Asthma severity; multiple myeloma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Hodgkin Disease|Inflammation; preeclampsia; Hepatitis B, Chronic|Hepatitis C, Chronic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hearing Loss, Sudden; Glomerulonephritis, IGA; HIV Infections; IL-4; Normal Outbred Allele Freq.; dermatitis, atopic; renal transplantation, rejection after; Total serum IgE; Migraine Disorders; colorectal cancer; Asthma|Eosinophilia; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Coronary Artery Disease; periodontal disease; hepatitis B; respiratory syncytial virus; Obesity; Nephrotic Syndrome; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; bullous pemphigoid; Adenocarcinoma|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Melanoma|Skin Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Cadaver; minimal change nephrotic syndrome; null; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; blood pressure; Leptospirosis|Swamp fever; atopy vaccine response; diabetes, type 1; Premature Birth|Vaginosis, Bacterial; Allergic asthma; Premature Birth; benzene haematotoxicity; Gastritis|Helicobacter Infections|Metaplasia|Precancerous Conditions|Stomach Neoplasms; systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; interstitial lung diseases; Infection|Postoperative Complications; vascular disease; hematopoietic stem cell transplantation; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; H. pylori infection; adult atopic dermatitis; Atopy/ Asthma; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Arthritis, Rheumatoid|; Inflammation|Premature Birth; Asthma; graft-versus-host disease; Hepatitis B, Chronic|Hepatitis C, Chronic|Liver Cirrhosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Degenerative arthropathy |Osteoarthritis; Conjunctivitis|Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atopy (IgE); lung cancer ; Recurrence|Venous Thromboembolism; lung cancer; Hyper-IgE syndrome. severe eczema. atopy; brain cancer; rheumatoid arthritis; brain cancer IgE; Brain Neoplasms|Glioblastoma; IgE levels; Drug Hypersensitivity|Shock|Urticaria; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Atopic Eczema; desensitization in solid organ transplant recipients ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Crohn's disease; asthma atopy lung function rhinitis; Carcinoma, Renal Cell|Kidney Neoplasms; Drug Hypersensitivity; Hodgkin lymphoma; hepatitis; liver disease, chronic; stomach cancer; Lymphoma, Large B-Cell, Diffuse; Arthritis, Rheumatoid|Rheumatoid Arthritis|Rheumatoid Nodule; esophageal adenocarcinoma; restenosis; kidney transplant; dermatitis and eczema; respiratory syncytial virus bronchiolitis; Atopic dermatitis; increasing risk and a poor prognosis of renal cell carcinoma; hepatitis C; Measles|Mumps|Rubella; Helicobacter Infections|Stomach Neoplasms; breast cancer; asthma; Celiac Disease|; juvenile arthritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Graves' disease IgE; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Infection|Inflammation|Premature Birth; eczema; inflammatory bowel disease; stroke; sickle cell anemia; Lymphoma, Non-Hodgkin; Hyperparathyroidism, Secondary; Psoriasis; myocardial infarct; Type 2 diabetes; Albuminuria|Inflammation|Kidney Diseases; bladder cancer; allele frequency/ normal; measles vaccine immunity; Drug-Induced Liver Injury|Hepatitis, Toxic; HIV; Leukemia, Lymphocytic, Chronic, B-Cell; atopy beta-lactam allergy; Multiple Myeloma; Asthma. atopy (IgE); Asthma|; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic	Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection.  Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection.	Interleukin-4 and 13 signaling	GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IEA|GO:0002639;positive regulation of immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0016064;immunoglobulin mediated immune response;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030728;ovulation;IEA|GO:0035771;interleukin-4-mediated signaling pathway;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043032;positive regulation of macrophage activation;IEA|GO:0043306;positive regulation of mast cell degranulation;IEA|GO:0043627;response to estrogen;IEA|GO:0045626;negative regulation of T-helper 1 cell differentiation;IEA|GO:0045630;positive regulation of T-helper 2 cell differentiation;IEA|GO:0090197;positive regulation of chemokine secretion;IEA|GO:1901741;positive regulation of myoblast fusion;IEA|GO:1990834;response to odorant;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004913;interleukin-4 receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL4R	https://www.uniprot.org/uniprot/P24394		https://www.ncbi.nlm.nih.gov/omim/?term=147781	http://www.informatics.jax.org/searchtool/Search.do?query=IL4R&submit=Quick%0D%1614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL4R	rs2074572	0.291733	0.2953	0.3373	1	0	0	intronic	intronic	intronic	IL4R	IL4R	ENSG00000077238	Na	Na	Na	Na	Na	Na	Het;C>T	339;14|18	Hom;C>T	1075;0|38
N	N	-	16	27356398	27356398	C	T	snp	intronic	 	 	 	 	IL4R	Il4ra	ENSG00000077238	interleukin 4 receptor	chr16:27324989-27376099	This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]	osteoarthritis; allergic rhinitis; pemphigus vulgaris; Alzheimer's disease; allergies; common cold; Glioblastoma|Hypersensitivity; Normal volunteers; Asthma|Rhinitis, Allergic, Seasonal; eczema food allergy IgE; normal variation; Anemia, Sickle Cell|Apoplexy|Sickle cell anemia|Stroke; Arthritis, Rheumatoid|Rheumatoid Arthritis; Coronary Artery Disease|Inflammation; diabetes, type 2; Graves Disease|Graves' Disease; multiple sclerosis; Helicobacter Infections; IgE; allergic reaction, betalactam; arthritis; Critical Illness|Sepsis|Systemic infection|Wounds and Injuries; lung function; atopic eczema; vaccine response; Brain Ischemia|Inflammation|Stroke; renal allograft outcome; asthma bronchodilator response IgE lung function; disc disease, intervertebral; Malaria, Falciparum; Immunoglobulin E; Brain Ischemia|Stroke; atopy; interstitial cystitis; Sepsis|Systemic infection; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; Blood Coagulation Disorders|Inflammation|Nervous System Diseases; allergy; atopy and influence the signal transduction; Cervical Neoplasm|Uterine Cervical Neoplasms; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Atopy; hyper-IgE syndrome and severe eczema. atopy; IL4R allele frequency; multiple sclerosis(PPmultiple sclerosis); panencephalitis, subacute sclerosing; pemphigus; Arthritis, Psoriatic|; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds; Adenocarcinoma|Hypersensitivity|pancreatic neoplasm|Pancreatic Neoplasms; Asthma severity; multiple myeloma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Hodgkin Disease|Inflammation; preeclampsia; Hepatitis B, Chronic|Hepatitis C, Chronic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hearing Loss, Sudden; Glomerulonephritis, IGA; HIV Infections; IL-4; Normal Outbred Allele Freq.; dermatitis, atopic; renal transplantation, rejection after; Total serum IgE; Migraine Disorders; colorectal cancer; Asthma|Eosinophilia; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Coronary Artery Disease; periodontal disease; hepatitis B; respiratory syncytial virus; Obesity; Nephrotic Syndrome; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; bullous pemphigoid; Adenocarcinoma|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Melanoma|Skin Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Cadaver; minimal change nephrotic syndrome; null; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; blood pressure; Leptospirosis|Swamp fever; atopy vaccine response; diabetes, type 1; Premature Birth|Vaginosis, Bacterial; Allergic asthma; Premature Birth; benzene haematotoxicity; Gastritis|Helicobacter Infections|Metaplasia|Precancerous Conditions|Stomach Neoplasms; systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; interstitial lung diseases; Infection|Postoperative Complications; vascular disease; hematopoietic stem cell transplantation; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; H. pylori infection; adult atopic dermatitis; Atopy/ Asthma; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Arthritis, Rheumatoid|; Inflammation|Premature Birth; Asthma; graft-versus-host disease; Hepatitis B, Chronic|Hepatitis C, Chronic|Liver Cirrhosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Degenerative arthropathy |Osteoarthritis; Conjunctivitis|Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atopy (IgE); lung cancer ; Recurrence|Venous Thromboembolism; lung cancer; Hyper-IgE syndrome. severe eczema. atopy; brain cancer; rheumatoid arthritis; brain cancer IgE; Brain Neoplasms|Glioblastoma; IgE levels; Drug Hypersensitivity|Shock|Urticaria; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Atopic Eczema; desensitization in solid organ transplant recipients ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Crohn's disease; asthma atopy lung function rhinitis; Carcinoma, Renal Cell|Kidney Neoplasms; Drug Hypersensitivity; Hodgkin lymphoma; hepatitis; liver disease, chronic; stomach cancer; Lymphoma, Large B-Cell, Diffuse; Arthritis, Rheumatoid|Rheumatoid Arthritis|Rheumatoid Nodule; esophageal adenocarcinoma; restenosis; kidney transplant; dermatitis and eczema; respiratory syncytial virus bronchiolitis; Atopic dermatitis; increasing risk and a poor prognosis of renal cell carcinoma; hepatitis C; Measles|Mumps|Rubella; Helicobacter Infections|Stomach Neoplasms; breast cancer; asthma; Celiac Disease|; juvenile arthritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Graves' disease IgE; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Infection|Inflammation|Premature Birth; eczema; inflammatory bowel disease; stroke; sickle cell anemia; Lymphoma, Non-Hodgkin; Hyperparathyroidism, Secondary; Psoriasis; myocardial infarct; Type 2 diabetes; Albuminuria|Inflammation|Kidney Diseases; bladder cancer; allele frequency/ normal; measles vaccine immunity; Drug-Induced Liver Injury|Hepatitis, Toxic; HIV; Leukemia, Lymphocytic, Chronic, B-Cell; atopy beta-lactam allergy; Multiple Myeloma; Asthma. atopy (IgE); Asthma|; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic	Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection.  Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection.	Interleukin-4 and 13 signaling	GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IEA|GO:0002639;positive regulation of immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0016064;immunoglobulin mediated immune response;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030728;ovulation;IEA|GO:0035771;interleukin-4-mediated signaling pathway;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043032;positive regulation of macrophage activation;IEA|GO:0043306;positive regulation of mast cell degranulation;IEA|GO:0043627;response to estrogen;IEA|GO:0045626;negative regulation of T-helper 1 cell differentiation;IEA|GO:0045630;positive regulation of T-helper 2 cell differentiation;IEA|GO:0090197;positive regulation of chemokine secretion;IEA|GO:1901741;positive regulation of myoblast fusion;IEA|GO:1990834;response to odorant;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004913;interleukin-4 receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL4R	https://www.uniprot.org/uniprot/P24394		https://www.ncbi.nlm.nih.gov/omim/?term=147781	http://www.informatics.jax.org/searchtool/Search.do?query=IL4R&submit=Quick%0D%1614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL4R	rs2072130	0.363618	0	0	1	0	0	intronic	intronic	intronic	IL4R	IL4R	ENSG00000077238	Na	Na	Na	Na	Na	Na	Het;C>T	130;4|8	Hom;C>T	227;0|8
N	N	-	16	27358132	27358132	C	T	snp	intronic	 	 	 	 	IL4R	Il4ra	ENSG00000077238	interleukin 4 receptor	chr16:27324989-27376099	This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]	osteoarthritis; allergic rhinitis; pemphigus vulgaris; Alzheimer's disease; allergies; common cold; Glioblastoma|Hypersensitivity; Normal volunteers; Asthma|Rhinitis, Allergic, Seasonal; eczema food allergy IgE; normal variation; Anemia, Sickle Cell|Apoplexy|Sickle cell anemia|Stroke; Arthritis, Rheumatoid|Rheumatoid Arthritis; Coronary Artery Disease|Inflammation; diabetes, type 2; Graves Disease|Graves' Disease; multiple sclerosis; Helicobacter Infections; IgE; allergic reaction, betalactam; arthritis; Critical Illness|Sepsis|Systemic infection|Wounds and Injuries; lung function; atopic eczema; vaccine response; Brain Ischemia|Inflammation|Stroke; renal allograft outcome; asthma bronchodilator response IgE lung function; disc disease, intervertebral; Malaria, Falciparum; Immunoglobulin E; Brain Ischemia|Stroke; atopy; interstitial cystitis; Sepsis|Systemic infection; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; Blood Coagulation Disorders|Inflammation|Nervous System Diseases; allergy; atopy and influence the signal transduction; Cervical Neoplasm|Uterine Cervical Neoplasms; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Atopy; hyper-IgE syndrome and severe eczema. atopy; IL4R allele frequency; multiple sclerosis(PPmultiple sclerosis); panencephalitis, subacute sclerosing; pemphigus; Arthritis, Psoriatic|; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds; Adenocarcinoma|Hypersensitivity|pancreatic neoplasm|Pancreatic Neoplasms; Asthma severity; multiple myeloma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Hodgkin Disease|Inflammation; preeclampsia; Hepatitis B, Chronic|Hepatitis C, Chronic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hearing Loss, Sudden; Glomerulonephritis, IGA; HIV Infections; IL-4; Normal Outbred Allele Freq.; dermatitis, atopic; renal transplantation, rejection after; Total serum IgE; Migraine Disorders; colorectal cancer; Asthma|Eosinophilia; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Coronary Artery Disease; periodontal disease; hepatitis B; respiratory syncytial virus; Obesity; Nephrotic Syndrome; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; bullous pemphigoid; Adenocarcinoma|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Melanoma|Skin Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Cadaver; minimal change nephrotic syndrome; null; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; blood pressure; Leptospirosis|Swamp fever; atopy vaccine response; diabetes, type 1; Premature Birth|Vaginosis, Bacterial; Allergic asthma; Premature Birth; benzene haematotoxicity; Gastritis|Helicobacter Infections|Metaplasia|Precancerous Conditions|Stomach Neoplasms; systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; interstitial lung diseases; Infection|Postoperative Complications; vascular disease; hematopoietic stem cell transplantation; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; H. pylori infection; adult atopic dermatitis; Atopy/ Asthma; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Arthritis, Rheumatoid|; Inflammation|Premature Birth; Asthma; graft-versus-host disease; Hepatitis B, Chronic|Hepatitis C, Chronic|Liver Cirrhosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Degenerative arthropathy |Osteoarthritis; Conjunctivitis|Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atopy (IgE); lung cancer ; Recurrence|Venous Thromboembolism; lung cancer; Hyper-IgE syndrome. severe eczema. atopy; brain cancer; rheumatoid arthritis; brain cancer IgE; Brain Neoplasms|Glioblastoma; IgE levels; Drug Hypersensitivity|Shock|Urticaria; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Atopic Eczema; desensitization in solid organ transplant recipients ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Crohn's disease; asthma atopy lung function rhinitis; Carcinoma, Renal Cell|Kidney Neoplasms; Drug Hypersensitivity; Hodgkin lymphoma; hepatitis; liver disease, chronic; stomach cancer; Lymphoma, Large B-Cell, Diffuse; Arthritis, Rheumatoid|Rheumatoid Arthritis|Rheumatoid Nodule; esophageal adenocarcinoma; restenosis; kidney transplant; dermatitis and eczema; respiratory syncytial virus bronchiolitis; Atopic dermatitis; increasing risk and a poor prognosis of renal cell carcinoma; hepatitis C; Measles|Mumps|Rubella; Helicobacter Infections|Stomach Neoplasms; breast cancer; asthma; Celiac Disease|; juvenile arthritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Graves' disease IgE; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Infection|Inflammation|Premature Birth; eczema; inflammatory bowel disease; stroke; sickle cell anemia; Lymphoma, Non-Hodgkin; Hyperparathyroidism, Secondary; Psoriasis; myocardial infarct; Type 2 diabetes; Albuminuria|Inflammation|Kidney Diseases; bladder cancer; allele frequency/ normal; measles vaccine immunity; Drug-Induced Liver Injury|Hepatitis, Toxic; HIV; Leukemia, Lymphocytic, Chronic, B-Cell; atopy beta-lactam allergy; Multiple Myeloma; Asthma. atopy (IgE); Asthma|; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic	Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection.  Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection.	Interleukin-4 and 13 signaling	GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IEA|GO:0002639;positive regulation of immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0016064;immunoglobulin mediated immune response;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030728;ovulation;IEA|GO:0035771;interleukin-4-mediated signaling pathway;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043032;positive regulation of macrophage activation;IEA|GO:0043306;positive regulation of mast cell degranulation;IEA|GO:0043627;response to estrogen;IEA|GO:0045626;negative regulation of T-helper 1 cell differentiation;IEA|GO:0045630;positive regulation of T-helper 2 cell differentiation;IEA|GO:0090197;positive regulation of chemokine secretion;IEA|GO:1901741;positive regulation of myoblast fusion;IEA|GO:1990834;response to odorant;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004913;interleukin-4 receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL4R	https://www.uniprot.org/uniprot/P24394		https://www.ncbi.nlm.nih.gov/omim/?term=147781	http://www.informatics.jax.org/searchtool/Search.do?query=IL4R&submit=Quick%0D%1614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL4R	rs3024575	0.365415	0	0	1	0	0	intronic	intronic	intronic	IL4R	IL4R	ENSG00000077238	Na	Na	Na	Na	Na	Na	Het;C>T	115;1|5	Hom;C>T	152;0|5
N	N	-	16	27364200	27364200	A	C	snp	intronic	 	 	 	 	IL4R	Il4ra	ENSG00000077238	interleukin 4 receptor	chr16:27324989-27376099	This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]	osteoarthritis; allergic rhinitis; pemphigus vulgaris; Alzheimer's disease; allergies; common cold; Glioblastoma|Hypersensitivity; Normal volunteers; Asthma|Rhinitis, Allergic, Seasonal; eczema food allergy IgE; normal variation; Anemia, Sickle Cell|Apoplexy|Sickle cell anemia|Stroke; Arthritis, Rheumatoid|Rheumatoid Arthritis; Coronary Artery Disease|Inflammation; diabetes, type 2; Graves Disease|Graves' Disease; multiple sclerosis; Helicobacter Infections; IgE; allergic reaction, betalactam; arthritis; Critical Illness|Sepsis|Systemic infection|Wounds and Injuries; lung function; atopic eczema; vaccine response; Brain Ischemia|Inflammation|Stroke; renal allograft outcome; asthma bronchodilator response IgE lung function; disc disease, intervertebral; Malaria, Falciparum; Immunoglobulin E; Brain Ischemia|Stroke; atopy; interstitial cystitis; Sepsis|Systemic infection; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; Blood Coagulation Disorders|Inflammation|Nervous System Diseases; allergy; atopy and influence the signal transduction; Cervical Neoplasm|Uterine Cervical Neoplasms; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Atopy; hyper-IgE syndrome and severe eczema. atopy; IL4R allele frequency; multiple sclerosis(PPmultiple sclerosis); panencephalitis, subacute sclerosing; pemphigus; Arthritis, Psoriatic|; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds; Adenocarcinoma|Hypersensitivity|pancreatic neoplasm|Pancreatic Neoplasms; Asthma severity; multiple myeloma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Hodgkin Disease|Inflammation; preeclampsia; Hepatitis B, Chronic|Hepatitis C, Chronic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hearing Loss, Sudden; Glomerulonephritis, IGA; HIV Infections; IL-4; Normal Outbred Allele Freq.; dermatitis, atopic; renal transplantation, rejection after; Total serum IgE; Migraine Disorders; colorectal cancer; Asthma|Eosinophilia; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Coronary Artery Disease; periodontal disease; hepatitis B; respiratory syncytial virus; Obesity; Nephrotic Syndrome; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; bullous pemphigoid; Adenocarcinoma|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Melanoma|Skin Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Cadaver; minimal change nephrotic syndrome; null; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; blood pressure; Leptospirosis|Swamp fever; atopy vaccine response; diabetes, type 1; Premature Birth|Vaginosis, Bacterial; Allergic asthma; Premature Birth; benzene haematotoxicity; Gastritis|Helicobacter Infections|Metaplasia|Precancerous Conditions|Stomach Neoplasms; systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; interstitial lung diseases; Infection|Postoperative Complications; vascular disease; hematopoietic stem cell transplantation; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; H. pylori infection; adult atopic dermatitis; Atopy/ Asthma; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Arthritis, Rheumatoid|; Inflammation|Premature Birth; Asthma; graft-versus-host disease; Hepatitis B, Chronic|Hepatitis C, Chronic|Liver Cirrhosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Degenerative arthropathy |Osteoarthritis; Conjunctivitis|Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atopy (IgE); lung cancer ; Recurrence|Venous Thromboembolism; lung cancer; Hyper-IgE syndrome. severe eczema. atopy; brain cancer; rheumatoid arthritis; brain cancer IgE; Brain Neoplasms|Glioblastoma; IgE levels; Drug Hypersensitivity|Shock|Urticaria; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Atopic Eczema; desensitization in solid organ transplant recipients ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Crohn's disease; asthma atopy lung function rhinitis; Carcinoma, Renal Cell|Kidney Neoplasms; Drug Hypersensitivity; Hodgkin lymphoma; hepatitis; liver disease, chronic; stomach cancer; Lymphoma, Large B-Cell, Diffuse; Arthritis, Rheumatoid|Rheumatoid Arthritis|Rheumatoid Nodule; esophageal adenocarcinoma; restenosis; kidney transplant; dermatitis and eczema; respiratory syncytial virus bronchiolitis; Atopic dermatitis; increasing risk and a poor prognosis of renal cell carcinoma; hepatitis C; Measles|Mumps|Rubella; Helicobacter Infections|Stomach Neoplasms; breast cancer; asthma; Celiac Disease|; juvenile arthritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Graves' disease IgE; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Infection|Inflammation|Premature Birth; eczema; inflammatory bowel disease; stroke; sickle cell anemia; Lymphoma, Non-Hodgkin; Hyperparathyroidism, Secondary; Psoriasis; myocardial infarct; Type 2 diabetes; Albuminuria|Inflammation|Kidney Diseases; bladder cancer; allele frequency/ normal; measles vaccine immunity; Drug-Induced Liver Injury|Hepatitis, Toxic; HIV; Leukemia, Lymphocytic, Chronic, B-Cell; atopy beta-lactam allergy; Multiple Myeloma; Asthma. atopy (IgE); Asthma|; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic	Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection.  Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection.	Interleukin-4 and 13 signaling	GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IEA|GO:0002639;positive regulation of immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0016064;immunoglobulin mediated immune response;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030728;ovulation;IEA|GO:0035771;interleukin-4-mediated signaling pathway;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043032;positive regulation of macrophage activation;IEA|GO:0043306;positive regulation of mast cell degranulation;IEA|GO:0043627;response to estrogen;IEA|GO:0045626;negative regulation of T-helper 1 cell differentiation;IEA|GO:0045630;positive regulation of T-helper 2 cell differentiation;IEA|GO:0090197;positive regulation of chemokine secretion;IEA|GO:1901741;positive regulation of myoblast fusion;IEA|GO:1990834;response to odorant;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004913;interleukin-4 receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL4R	https://www.uniprot.org/uniprot/P24394		https://www.ncbi.nlm.nih.gov/omim/?term=147781	http://www.informatics.jax.org/searchtool/Search.do?query=IL4R&submit=Quick%0D%1614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL4R	rs3024611	0.761382	0	0	1	0	0	intronic	intronic	intronic	IL4R	IL4R	ENSG00000077238	Na	Na	Na	Na	Na	Na	Het;A>C	44;2|2	Hom;A>C	106;0|4
N	N	-	16	28123226	28123226	G	A	snp	synonymous SNV	C2253T	H751H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	XPO6	Xpo6	ENSG00000169180	exportin 6	chr16:28109300-28223241	The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder	 		GO:0006611;protein export from nucleus;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XPO6			https://www.ncbi.nlm.nih.gov/omim/?term=608411	http://www.informatics.jax.org/searchtool/Search.do?query=XPO6&submit=Quick%0D%12430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XPO6	rs205384	0.166334	0.2433	0.2402	1	0	0	exonic	exonic	exonic	XPO6	XPO6	ENSG00000169180	synonymous SNV	synonymous SNV	unknown	XPO6:NM_001270940:exon18:c.C2211T:p.H737H,XPO6:NM_015171:exon17:c.C2253T:p.H751H,	XPO6:uc002dpa.2:exon17:c.C2253T:p.H751H,XPO6:uc010vcp.2:exon17:c.C2253T:p.H751H,XPO6:uc002dpb.2:exon18:c.C2211T:p.H737H,	UNKNOWN	Het;G>A	1123;102|61	Hom;G>A	4075;0|155
N	N	-	16	281299	281299	G	A	snp	ncRNA_exonic	 	 	 	 	Z69890.1																		rs3760047	0.777356	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	LUC7L(dist=1850),ITFG3(dist=3246)	LUC7L	ENSG00000206168	Na	Na	Na	Na	Na	Na	Het;G>A	537;30|27	Hom;G>A	765;0|30
N	N	-	16	28132951	28132951	T	C	snp	intronic	 	 	 	 	XPO6	Xpo6	ENSG00000169180	exportin 6	chr16:28109300-28223241	The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder	 		GO:0006611;protein export from nucleus;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XPO6			https://www.ncbi.nlm.nih.gov/omim/?term=608411	http://www.informatics.jax.org/searchtool/Search.do?query=XPO6&submit=Quick%0D%12430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XPO6	rs33048	0.220447	0.3028	0.2554	1	0	0	intronic	intronic	intronic	XPO6	XPO6	ENSG00000169180	Na	Na	Na	Na	Na	Na	Het;T>C	511;16|21	Hom;T>C	865;0|34
N	N	-	16	28133152	28133152	C	A	snp	intronic	 	 	 	 	XPO6	Xpo6	ENSG00000169180	exportin 6	chr16:28109300-28223241	The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder	 		GO:0006611;protein export from nucleus;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XPO6			https://www.ncbi.nlm.nih.gov/omim/?term=608411	http://www.informatics.jax.org/searchtool/Search.do?query=XPO6&submit=Quick%0D%12430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XPO6	rs39998	0.220248	0	0	1	0	0	intronic	intronic	intronic	XPO6	XPO6	ENSG00000169180	Na	Na	Na	Na	Na	Na	Het;C>A	343;18|15	Hom;C>A	480;0|17
N	N	-	16	28137248	28137248	C	A	snp	intronic	 	 	 	 	XPO6	Xpo6	ENSG00000169180	exportin 6	chr16:28109300-28223241	The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder	 		GO:0006611;protein export from nucleus;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XPO6			https://www.ncbi.nlm.nih.gov/omim/?term=608411	http://www.informatics.jax.org/searchtool/Search.do?query=XPO6&submit=Quick%0D%12430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XPO6	rs39631	0.220248	0	0	1	0	0	intronic	intronic	intronic	XPO6	XPO6	ENSG00000169180	Na	Na	Na	Na	Na	Na	Het;C>A	263;15|12	Hom;C>A	1079;0|38
N	N	-	16	28167920	28167920	C	CAA	indel	intronic	 	 	 	 	XPO6	Xpo6	ENSG00000169180	exportin 6	chr16:28109300-28223241	The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]	Tobacco Use Disorder	 		GO:0006611;protein export from nucleus;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XPO6			https://www.ncbi.nlm.nih.gov/omim/?term=608411	http://www.informatics.jax.org/searchtool/Search.do?query=XPO6&submit=Quick%0D%12430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XPO6	rs34751450	0.221046	0	0	1	0	0	intronic	intronic	intronic	XPO6	XPO6	ENSG00000169180	Na	Na	Na	Na	Na	Na	Het;+AA	384;9|14	Hom;+AA	545;0|16
N	N	-	16	281885	281885	G	A	snp	downstream	 	 	 	 	Z69890.1																		rs7195963	0.38758	0	0	1	0	0	intergenic	intronic	downstream	LUC7L(dist=2436),ITFG3(dist=2660)	LUC7L	ENSG00000206168	Na	Na	Na	Na	Na	Na	Het;G>A	185;26|12	Hom;G>A	1102;0|42
N	N	-	16	2821573	2821573	C	T	snp	nonsynonymous SNV	G386A	S129N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TCEB2	 																	rs8017	0.413738	0.4495	0.4820	0.09	1	11	exonic	exonic	exonic	TCEB2	TCEB2	ENSG00000103363	nonsynonymous SNV	nonsynonymous SNV	unknown	TCEB2:NM_207013:exon5:c.G386A:p.S129N,	TCEB2:uc002crm.3:exon5:c.G386A:p.S129N,	UNKNOWN	Het;C>T	559;33|28	Hom;C>T	1970;0|74
N	N	-	16	2903068	2903068	A	C	snp	UTR3	*26T>G	 	 	 	PRSS22	Prss22	ENSG00000282937	protease, serine 22	chr16:2902728-2908171	This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]		 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0019897;extrinsic component of plasma membrane;IBA|GO:0046658;anchored component of plasma membrane;IBA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRSS22	https://www.uniprot.org/uniprot/Q9GZN4		https://www.ncbi.nlm.nih.gov/omim/?term=609343	http://www.informatics.jax.org/searchtool/Search.do?query=PRSS22&submit=Quick%0D%22651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS22	rs113609771	0.0948482	0.1689	0.2330	1	0	0	UTR3	UTR3	UTR3	PRSS22(NM_022119:c.*26T>G)	PRSS22(uc002cry.1:c.*26T>G)	ENSG00000005001(ENST00000161006:c.*26T>G,ENST00000571228:c.*26T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	401;14|13	Hom;A>C	872;0|20
N	N	-	16	2903850	2903850	G	C	snp	intronic	 	 	 	 	PRSS22	Prss22	ENSG00000282937	protease, serine 22	chr16:2902728-2908171	This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]		 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0019897;extrinsic component of plasma membrane;IBA|GO:0046658;anchored component of plasma membrane;IBA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRSS22	https://www.uniprot.org/uniprot/Q9GZN4		https://www.ncbi.nlm.nih.gov/omim/?term=609343	http://www.informatics.jax.org/searchtool/Search.do?query=PRSS22&submit=Quick%0D%22651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS22	rs112285893	0.0944489	0.2062	0.2022	1	0	0	intronic	intronic	intronic	PRSS22	PRSS22	ENSG00000005001	Na	Na	Na	Na	Na	Na	Het;G>C	612;43|28	Hom;G>C	1499;0|54
N	N	-	16	2906934	2906934	G	A	snp	intronic	 	 	 	 	PRSS22	Prss22	ENSG00000282937	protease, serine 22	chr16:2902728-2908171	This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]		 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0019897;extrinsic component of plasma membrane;IBA|GO:0046658;anchored component of plasma membrane;IBA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRSS22	https://www.uniprot.org/uniprot/Q9GZN4		https://www.ncbi.nlm.nih.gov/omim/?term=609343	http://www.informatics.jax.org/searchtool/Search.do?query=PRSS22&submit=Quick%0D%22651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS22	rs732532	0.0952476	0.2179	0	1	0	0	intronic	intronic	intronic	PRSS22	PRSS22	ENSG00000005001	Na	Na	Na	Na	Na	Na	Het;G>A	205;11|9	Hom;G>A	640;0|24
N	N	-	16	29086162	29086162	A	G	snp	upstream	 	 	 	 	RRN3P2																		rs252263	0.677316	0	0	1	0	0	upstream	intronic	ncRNA_intronic	RRN3P2	NPIPL1	ENSG00000260908	Na	Na	Na	Na	Na	Na	Het;A>G	61;7|4	Hom;A>G	280;0|9
N	N	-	16	29113497	29113498	AT	A	indel	ncRNA_intronic	 	 	 	 	RRN3P2																		rs11366120	0.428315	0	0.0638	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	RRN3P2	RRN3P2	ENSG00000103472,ENSG00000260908	Na	Na	Na	Na	Na	Na	Het;-T	781;39|42	Hom;-T	1535;1|64
N	N	-	16	29124421	29124421	T	C	snp	ncRNA_exonic	 	 	 	 	RRN3P2																		rs1641997	0.692692	0	0.6682	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RRN3P2	RRN3P2	ENSG00000103472	Na	Na	Na	Na	Na	Na	Het;T>C	839;72|46	Hom;T>C	2968;0|113
N	N	-	16	29149386	29149386	T	C	snp	ncRNA_intronic	 	 	 	 	AC009093.2																		rs1642027	0.688099	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	RRN3P2(dist=21348),SNX29P2(dist=164222)	NPIPL1	ENSG00000260517	Na	Na	Na	Na	Na	Na	Het;T>C	170;6|7	Hom;T>C	335;0|10
N	N	-	16	29150785	29150785	G	A	snp	ncRNA_intronic	 	 	 	 	AC009093.2																		rs1646119	0.41873	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	RRN3P2(dist=22747),SNX29P2(dist=162823)	NPIPL1	ENSG00000260517	Na	Na	Na	Na	Na	Na	Het;G>A	365;14|18	Hom;G>A	952;0|39
N	N	-	16	29150945	29150945	C	T	snp	ncRNA_intronic	 	 	 	 	AC009093.2																		rs1646118	0.41873	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	RRN3P2(dist=22907),SNX29P2(dist=162663)	NPIPL1	ENSG00000260517	Na	Na	Na	Na	Na	Na	Het;C>T	485;25|14	Hom;C>T	1806;0|42
N	N	-	16	29150946	29150946	T	G	snp	ncRNA_intronic	 	 	 	 	AC009093.2																		rs59588914	0.44389	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	RRN3P2(dist=22908),SNX29P2(dist=162662)	NPIPL1	ENSG00000260517	Na	Na	Na	Na	Na	Na	Het;T>G	485;25|14	Hom;T>G	1806;0|40
N	N	-	16	29192911	29192911	T	C	snp	ncRNA_intronic	 	 	 	 	AC009093.2																		rs252329	0.546925	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	RRN3P2(dist=64873),SNX29P2(dist=120697)	NPIPL1	ENSG00000260517	Na	Na	Na	Na	Na	Na	Het;T>C	752;20|36	Hom;T>C	1151;0|43
N	N	-	16	29193056	29193056	T	C	snp	ncRNA_intronic	 	 	 	 	AC009093.2																		rs12926138	0.232228	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	RRN3P2(dist=65018),SNX29P2(dist=120552)	NPIPL1	ENSG00000260517	Na	Na	Na	Na	Na	Na	Het;T>C	162;5|7	Hom;T>C	165;0|6
N	N	-	16	29436848	29436848	T	C	snp	ncRNA_intronic	 	 	 	 	AC025279.1																		rs3953225	0.842652	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	SNX29P2(dist=60468),LOC606724(dist=23818)	NPIPL1(dist=21039),AK096982(dist=2784)	ENSG00000198106	Na	Na	Na	Na	Na	Na	Het;T>C	3871;146|107	Hom;T>C	6292;0|217
N	N	-	16	29436863	29436863	A	G	snp	ncRNA_intronic	 	 	 	 	AC025279.1																		rs3953224	0.665136	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	SNX29P2(dist=60483),LOC606724(dist=23803)	NPIPL1(dist=21054),AK096982(dist=2769)	ENSG00000198106	Na	Na	Na	Na	Na	Na	Het;A>G	2543;153|119	Hom;A>G	6632;0|230
N	N	-	16	29437061	29437062	TA	T	indel	ncRNA_intronic	 	 	 	 	AC025279.1																		rs202085229	0.568091	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	SNX29P2(dist=60681),LOC606724(dist=23604)	NPIPL1(dist=21252),AK096982(dist=2570)	ENSG00000198106	Na	Na	Na	Na	Na	Na	Het;-A	1737;86|104	Hom;-A	2294;14|118
N	N	-	16	29571739	29571739	T	C	snp	ncRNA_intronic	 	 	 	 	LOC440354																		rs199612454	0.602835	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SMG1P2	LOC440354	ENSG00000205534	Na	Na	Na	Na	Na	Na	Het;T>C	38;3|2	Hom;T>C	172;0|5
N	N	-	16	29580611	29580611	G	A	snp	ncRNA_exonic	 	 	 	 	SMG1P2																		rs2161671	0.833466	0	0.7414	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	SMG1P2(dist=3071),MIR3680-1(dist=29889)	LOC440354	ENSG00000205534	Na	Na	Na	Na	Na	Na	Het;G>A	198;48|17	Hom;G>A	974;0|36
N	N	-	16	29606045	29606045	T	C	snp	ncRNA_intronic	 	 	 	 	LOC440354																		rs28548524	0.748802	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	SMG1P2(dist=28505),MIR3680-1(dist=4455)	LOC440354	ENSG00000205534	Na	Na	Na	Na	Na	Na	Het;T>C	36;4|3	Hom;T>C	71;0|4
N	N	-	16	29606556	29606556	C	G	snp	ncRNA_exonic	 	 	 	 	LOC440354																		rs7199528	0.838858	0	0	1	0	0	intergenic	ncRNA_exonic	upstream	SMG1P2(dist=29016),MIR3680-1(dist=3944)	LOC440354	ENSG00000205534	Na	Na	Na	Na	Na	Na	Het;C>G	1973;70|92	Hom;C>G	5891;0|209
N	N	-	16	29624247	29624247	C	A	snp	downstream	 	 	 	 	SLC7A5P1																		rs2550510	0.823083	0	0	1	0	0	downstream	ncRNA_intronic	downstream	SLC7A5P1	LOC440354	ENSG00000260727	Na	Na	Na	Na	Na	Na	Het;C>A	374;41|20	Hom;C>A	1755;0|60
N	N	-	16	29644794	29644794	A	G	snp	ncRNA_intronic	 	 	 	 	CA5AP1																		rs11150561	0.740016	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	SLC7A5P1(dist=19756),SPN(dist=29477)	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000260133	Na	Na	Na	Na	Na	Na	Het;A>G	84;3|5	Hom;A>G	432;0|16
N	N	-	16	29647700	29647700	C	T	snp	upstream	 	 	 	 	CA5AP1																		rs8049707	0.738618	0	0	1	0	0	intergenic	intergenic	upstream	SLC7A5P1(dist=22662),SPN(dist=26571)	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000260133	Na	Na	Na	Na	Na	Na	Het;C>T	99;3|4	Hom;C>T	390;0|12
N	N	-	16	2987002	2987002	C	T	snp	intronic	 	 	 	 	FLYWCH1	Flywch1	ENSG00000059122	FLYWCH-type zinc finger 1	chr16:2961938-3001209			 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLYWCH1	https://www.uniprot.org/uniprot/Q4VC44			http://www.informatics.jax.org/searchtool/Search.do?query=FLYWCH1&submit=Quick%0D%1043ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLYWCH1	rs2074357	0.590655	0	0	1	0	0	intronic	intronic	intronic	FLYWCH1	FLYWCH1	ENSG00000059122	Na	Na	Na	Na	Na	Na	Het;C>T	53;8|3	Hom;C>T	201;0|6
N	N	-	16	29908433	29908433	C	G	snp	nonsynonymous SNV	G89C	R30P	polar,hydrophilic,charged(+)	hydrophobic,neutral	SEZ6L2	Sez6l2	ENSG00000174938	seizure related 6 homolog like 2	chr16:29882480-29910868	This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Anthropometric traits; Autism; Waist Circumference; Body Weight	Mice homozygous for a knock-out allele exhibit no apparent defects.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L2			https://www.ncbi.nlm.nih.gov/omim/?term=616667	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L2&submit=Quick%0D%13603ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L2	rs11649499	0.750998	0.8806	0.7865	0.08	1	13	exonic	exonic	exonic	SEZ6L2	SEZ6L2	ENSG00000174938	nonsynonymous SNV	nonsynonymous SNV	unknown	SEZ6L2:NM_001243333:exon2:c.G89C:p.R30P,SEZ6L2:NM_001114100:exon3:c.G221C:p.R74P,SEZ6L2:NM_001243332:exon3:c.G221C:p.R74P,SEZ6L2:NM_201575:exon3:c.G221C:p.R74P,	SEZ6L2:uc010vec.2:exon3:c.G221C:p.R74P,SEZ6L2:uc002duq.4:exon3:c.G221C:p.R74P,SEZ6L2:uc002dus.4:exon3:c.G221C:p.R74P,SEZ6L2:uc010ved.2:exon2:c.G89C:p.R30P,	UNKNOWN	Het;C>G	884;50|43	Hom;C>G	2312;1|83
N	N	-	16	29918034	29918034	T	C	snp	UTR3	*159A>G	 	 	 	KCTD13	Kctd13	ENSG00000174943	potassium channel tetramerization domain containing 13	chr16:29916333-29938356			Mice homozygous for a knock-out allele exhibit reduced synaptic transmission, abnormal hippocampal pyramidal neuron dendrite morphology, and hyperactivity with no detectable changes in body weight, brain size or neurogenesis.		GO:0006260;DNA replication;ISS|GO:0016477;cell migration;IMP|GO:0016567;protein ubiquitination;IDA|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0043149;stress fiber assembly;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045740;positive regulation of DNA replication;IEA|GO:0051260;protein homooligomerization;IEA	GO:0005634;nucleus;IDA|GO:0016604;nuclear body;IDA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0017049;GTP-Rho binding;IDA|GO:0019904;protein domain specific binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCTD13			https://www.ncbi.nlm.nih.gov/omim/?term=608947	http://www.informatics.jax.org/searchtool/Search.do?query=KCTD13&submit=Quick%0D%13605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCTD13	rs1129700	0.445288	0	0	1	0	0	UTR3	UTR3	UTR3	KCTD13(NM_178863:c.*159A>G)	KCTD13(uc002duv.4:c.*159A>G)	ENSG00000174943(ENST00000308768:c.*159A>G,ENST00000568000:c.*159A>G,ENST00000566842:c.*1126A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1249;67|64	Hom;T>C	2750;4|104
N	N	-	16	3088183	3088183	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100128770																		rs1859376	0.294129	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100128770	LOC100128770	ENSG00000205890	Na	Na	Na	Na	Na	Na	Het;G>A	96;2|4	Hom;G>A	115;0|4
N	N	-	16	30886643	30886643	T	C	snp	ncRNA_exonic	 	 	 	 	MIR4519																		rs897984	0.457468	0	0.5	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4519	MIR4519	ENSG00000260083,ENSG00000265991	Na	Na	Na	Na	Na	Na	Het;T>C	626;19|28	Hom;T>C	1500;0|53
N	N	-	16	322934	322934	C	T	snp	intronic	 	 	 	 	RGS11	Rgs11	ENSG00000076344	regulator of G protein signaling 11	chr16:318300-325980	The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; esophageal adenocarcinoma	Mice homozygous for a null allele exhibit abnormal cone and rod b-wave electrophysiology.	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;IBA|GO:0043234;protein complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0031681;G-protein beta-subunit binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS11	https://www.uniprot.org/uniprot/O94810		https://www.ncbi.nlm.nih.gov/omim/?term=603895	http://www.informatics.jax.org/searchtool/Search.do?query=RGS11&submit=Quick%0D%1581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS11	rs9940585	0.551917	0.4989	0.6596	1	0	0	intronic	intronic	intronic	RGS11	LUC7L,RGS11	ENSG00000076344,ENSG00000242173	Na	Na	Na	Na	Na	Na	Het;C>T	218;34|16	Hom;C>T	866;0|32
N	N	-	16	3304573	3304573	G	T	snp	synonymous SNV	C495A	A165A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MEFV	Mefv	ENSG00000103313	MEFV, pyrin innate immunity regulator	chr16:3292028-3306627	This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]	Cystic Fibrosis|Familial Mediterranean Fever; Crohn Disease|Crohn's disease|Familial Mediterranean Fever; Colitis, Ulcerative|Crohn Disease|Familial Mediterranean Fever|Inflammatory Bowel Diseases; Abdomen, Acute|Familial Mediterranean Fever; Amyloidosis, Familial|Familial Mediterranean Fever; amyloidosis Familial Mediterranean Fever; Narcolepsy; Arthritis, Juvenile Rheumatoid|Arthritis, Psoriatic|Familial Mediterranean Fever|; Behcet's disease thromboembolism, venous; Arthritis; Familial Mediterranean Fever|Spondylitis, Ankylosing; Arthritis, Juvenile Rheumatoid|Familial Mediterranean Fever|; Amyloidosis|Behcet Syndrome|Familial Mediterranean Fever|Irritable Bowel Syndrome; Creutzfeldt-Jakob disease|Creutzfeldt-Jakob Syndrome|Familial Mediterranean Fever; Familial Mediterranean Fever|Glomerulonephritis, IGA|IGA Glomerulonephritides; null; Albuminuria|Amyloidosis, Familial|Familial Mediterranean Fever; Type 2 Diabetes| edema | rosiglitazone; Amyloidosis|Familial Mediterranean Fever|Inflammation; arthritis; Familial Mediterranean Fever; IgD; Familial Mediterranean Fever; hyper-IgD syndrome; Familial Mediterranean Fever|Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; familial Mediterranean fever; rheumatoid arthritis; Critical Illness|Sepsis|Systemic infection|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; secondary and FMF amyloidosis.; amyloidosis; Familial Mediterranean Fever; amyloidosis; Body Weight|Familial Mediterranean Fever|Recurrence; Mediterranean fever; Edema|Purpura, Schoenlein-Henoch; Inflammation|Myocardial Infarction; Amyloidosis|Atherosclerosis|Familial Mediterranean Fever|; Amyloidosis|Arthritis, Rheumatoid|Familial Mediterranean Fever|; Asthma|Familial Mediterranean Fever; Amyloidosis|Familial Mediterranean Fever; C-reactive protein; Rheumatoid spondylitis|Spondylitis, Ankylosing; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Familial Mediterranean Fever|Rheumatoid Arthritis|Rheumatoid spondylitis|Spondylitis, Ankylosing; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis|Familial Mediterranean Fever|Inflammation; Diarrhea|Familial Mediterranean Fever|Pain|Stomatitis, Aphthous; Hereditary Autoinflammatory Diseases|Lymphadenitis|Pharyngitis|Stomatitis, Aphthous|Syndrome; multiple sclerosis; Behcet's Disease; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; familial mediterranean fever; Familial Mediterranean Fever|; Familial Mediterranean Fever|Fever; Abdominal Pain|Amyloidosis|Arthritis|Familial Mediterranean Fever|Fever; Spondylitis, Ankylosing; aging; Alzheimer's disease; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Familial Mediterranean Fever; ulcerative colitis; Behcet Syndrome|; Meningeal Neoplasms|meningioma; Familial Mediterranean Fever|Infertility, Male; inflammatory bowel disease ; Arthritis, Rheumatoid|Rheumatoid Arthritis; Familial Mediterranean Fever|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid|Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloid Leukemia|Polycythemia Vera|Preleukemia	Homozygous null mice develop normally but show increased susceptibilty to infection. Mice homozygous for another knock-out allele exhibit increased macrophage secretion of IL1b and Il18 following stimulation.	The NLRP3 inflammasome	GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0032691;negative regulation of interleukin-1 beta production;IMP|GO:0032695;negative regulation of interleukin-12 production;IMP|GO:0034341;response to interferon-gamma;IDA|GO:0045087;innate immune response;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0071641;negative regulation of macrophage inflammatory protein 1 alpha production;IMP|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP|GO:2001056;positive regulation of cysteine-type endopeptidase activity;IDA	GO:0001726;ruffle;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;IDA|GO:0030027;lamellipodium;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEFV	https://www.uniprot.org/uniprot/O15553	https://hpo.jax.org/app/browse/search?q=MEFV&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608107	http://www.informatics.jax.org/searchtool/Search.do?query=MEFV&submit=Quick%0D%3004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEFV	rs224223	0.386382	0.4670	0.4907	1	0	0	exonic	exonic	exonic	MEFV	MEFV	ENSG00000103313	synonymous SNV	synonymous SNV	unknown	MEFV:NM_000243:exon2:c.C495A:p.A165A,	MEFV:uc002cun.1:exon2:c.C495A:p.A165A,	UNKNOWN	Het;G>T	494;12|25	Hom;G>T	1097;0|40
N	N	-	16	3304654	3304654	T	C	snp	synonymous SNV	A414G	G138G	aliphatic,neutral	aliphatic,neutral	MEFV	Mefv	ENSG00000103313	MEFV, pyrin innate immunity regulator	chr16:3292028-3306627	This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]	Cystic Fibrosis|Familial Mediterranean Fever; Crohn Disease|Crohn's disease|Familial Mediterranean Fever; Colitis, Ulcerative|Crohn Disease|Familial Mediterranean Fever|Inflammatory Bowel Diseases; Abdomen, Acute|Familial Mediterranean Fever; Amyloidosis, Familial|Familial Mediterranean Fever; amyloidosis Familial Mediterranean Fever; Narcolepsy; Arthritis, Juvenile Rheumatoid|Arthritis, Psoriatic|Familial Mediterranean Fever|; Behcet's disease thromboembolism, venous; Arthritis; Familial Mediterranean Fever|Spondylitis, Ankylosing; Arthritis, Juvenile Rheumatoid|Familial Mediterranean Fever|; Amyloidosis|Behcet Syndrome|Familial Mediterranean Fever|Irritable Bowel Syndrome; Creutzfeldt-Jakob disease|Creutzfeldt-Jakob Syndrome|Familial Mediterranean Fever; Familial Mediterranean Fever|Glomerulonephritis, IGA|IGA Glomerulonephritides; null; Albuminuria|Amyloidosis, Familial|Familial Mediterranean Fever; Type 2 Diabetes| edema | rosiglitazone; Amyloidosis|Familial Mediterranean Fever|Inflammation; arthritis; Familial Mediterranean Fever; IgD; Familial Mediterranean Fever; hyper-IgD syndrome; Familial Mediterranean Fever|Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; familial Mediterranean fever; rheumatoid arthritis; Critical Illness|Sepsis|Systemic infection|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; secondary and FMF amyloidosis.; amyloidosis; Familial Mediterranean Fever; amyloidosis; Body Weight|Familial Mediterranean Fever|Recurrence; Mediterranean fever; Edema|Purpura, Schoenlein-Henoch; Inflammation|Myocardial Infarction; Amyloidosis|Atherosclerosis|Familial Mediterranean Fever|; Amyloidosis|Arthritis, Rheumatoid|Familial Mediterranean Fever|; Asthma|Familial Mediterranean Fever; Amyloidosis|Familial Mediterranean Fever; C-reactive protein; Rheumatoid spondylitis|Spondylitis, Ankylosing; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Familial Mediterranean Fever|Rheumatoid Arthritis|Rheumatoid spondylitis|Spondylitis, Ankylosing; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis|Familial Mediterranean Fever|Inflammation; Diarrhea|Familial Mediterranean Fever|Pain|Stomatitis, Aphthous; Hereditary Autoinflammatory Diseases|Lymphadenitis|Pharyngitis|Stomatitis, Aphthous|Syndrome; multiple sclerosis; Behcet's Disease; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; familial mediterranean fever; Familial Mediterranean Fever|; Familial Mediterranean Fever|Fever; Abdominal Pain|Amyloidosis|Arthritis|Familial Mediterranean Fever|Fever; Spondylitis, Ankylosing; aging; Alzheimer's disease; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Familial Mediterranean Fever; ulcerative colitis; Behcet Syndrome|; Meningeal Neoplasms|meningioma; Familial Mediterranean Fever|Infertility, Male; inflammatory bowel disease ; Arthritis, Rheumatoid|Rheumatoid Arthritis; Familial Mediterranean Fever|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid|Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloid Leukemia|Polycythemia Vera|Preleukemia	Homozygous null mice develop normally but show increased susceptibilty to infection. Mice homozygous for another knock-out allele exhibit increased macrophage secretion of IL1b and Il18 following stimulation.	The NLRP3 inflammasome	GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0032691;negative regulation of interleukin-1 beta production;IMP|GO:0032695;negative regulation of interleukin-12 production;IMP|GO:0034341;response to interferon-gamma;IDA|GO:0045087;innate immune response;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0071641;negative regulation of macrophage inflammatory protein 1 alpha production;IMP|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP|GO:2001056;positive regulation of cysteine-type endopeptidase activity;IDA	GO:0001726;ruffle;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;IDA|GO:0030027;lamellipodium;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEFV	https://www.uniprot.org/uniprot/O15553	https://hpo.jax.org/app/browse/search?q=MEFV&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608107	http://www.informatics.jax.org/searchtool/Search.do?query=MEFV&submit=Quick%0D%3004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEFV	rs224224	0.386581	0.4664	0.4375	1	0	0	exonic	exonic	exonic	MEFV	MEFV	ENSG00000103313	synonymous SNV	synonymous SNV	unknown	MEFV:NM_000243:exon2:c.A414G:p.G138G,	MEFV:uc002cun.1:exon2:c.A414G:p.G138G,	UNKNOWN	Het;T>C	511;37|25	Hom;T>C	1261;0|47
N	N	-	16	3304762	3304762	A	G	snp	synonymous SNV	T306C	D102D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MEFV	Mefv	ENSG00000103313	MEFV, pyrin innate immunity regulator	chr16:3292028-3306627	This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]	Cystic Fibrosis|Familial Mediterranean Fever; Crohn Disease|Crohn's disease|Familial Mediterranean Fever; Colitis, Ulcerative|Crohn Disease|Familial Mediterranean Fever|Inflammatory Bowel Diseases; Abdomen, Acute|Familial Mediterranean Fever; Amyloidosis, Familial|Familial Mediterranean Fever; amyloidosis Familial Mediterranean Fever; Narcolepsy; Arthritis, Juvenile Rheumatoid|Arthritis, Psoriatic|Familial Mediterranean Fever|; Behcet's disease thromboembolism, venous; Arthritis; Familial Mediterranean Fever|Spondylitis, Ankylosing; Arthritis, Juvenile Rheumatoid|Familial Mediterranean Fever|; Amyloidosis|Behcet Syndrome|Familial Mediterranean Fever|Irritable Bowel Syndrome; Creutzfeldt-Jakob disease|Creutzfeldt-Jakob Syndrome|Familial Mediterranean Fever; Familial Mediterranean Fever|Glomerulonephritis, IGA|IGA Glomerulonephritides; null; Albuminuria|Amyloidosis, Familial|Familial Mediterranean Fever; Type 2 Diabetes| edema | rosiglitazone; Amyloidosis|Familial Mediterranean Fever|Inflammation; arthritis; Familial Mediterranean Fever; IgD; Familial Mediterranean Fever; hyper-IgD syndrome; Familial Mediterranean Fever|Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; familial Mediterranean fever; rheumatoid arthritis; Critical Illness|Sepsis|Systemic infection|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; secondary and FMF amyloidosis.; amyloidosis; Familial Mediterranean Fever; amyloidosis; Body Weight|Familial Mediterranean Fever|Recurrence; Mediterranean fever; Edema|Purpura, Schoenlein-Henoch; Inflammation|Myocardial Infarction; Amyloidosis|Atherosclerosis|Familial Mediterranean Fever|; Amyloidosis|Arthritis, Rheumatoid|Familial Mediterranean Fever|; Asthma|Familial Mediterranean Fever; Amyloidosis|Familial Mediterranean Fever; C-reactive protein; Rheumatoid spondylitis|Spondylitis, Ankylosing; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Familial Mediterranean Fever|Rheumatoid Arthritis|Rheumatoid spondylitis|Spondylitis, Ankylosing; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis|Familial Mediterranean Fever|Inflammation; Diarrhea|Familial Mediterranean Fever|Pain|Stomatitis, Aphthous; Hereditary Autoinflammatory Diseases|Lymphadenitis|Pharyngitis|Stomatitis, Aphthous|Syndrome; multiple sclerosis; Behcet's Disease; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; familial mediterranean fever; Familial Mediterranean Fever|; Familial Mediterranean Fever|Fever; Abdominal Pain|Amyloidosis|Arthritis|Familial Mediterranean Fever|Fever; Spondylitis, Ankylosing; aging; Alzheimer's disease; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Familial Mediterranean Fever; ulcerative colitis; Behcet Syndrome|; Meningeal Neoplasms|meningioma; Familial Mediterranean Fever|Infertility, Male; inflammatory bowel disease ; Arthritis, Rheumatoid|Rheumatoid Arthritis; Familial Mediterranean Fever|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid|Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloid Leukemia|Polycythemia Vera|Preleukemia	Homozygous null mice develop normally but show increased susceptibilty to infection. Mice homozygous for another knock-out allele exhibit increased macrophage secretion of IL1b and Il18 following stimulation.	The NLRP3 inflammasome	GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0032691;negative regulation of interleukin-1 beta production;IMP|GO:0032695;negative regulation of interleukin-12 production;IMP|GO:0034341;response to interferon-gamma;IDA|GO:0045087;innate immune response;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0071641;negative regulation of macrophage inflammatory protein 1 alpha production;IMP|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP|GO:2001056;positive regulation of cysteine-type endopeptidase activity;IDA	GO:0001726;ruffle;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;IDA|GO:0030027;lamellipodium;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEFV	https://www.uniprot.org/uniprot/O15553	https://hpo.jax.org/app/browse/search?q=MEFV&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608107	http://www.informatics.jax.org/searchtool/Search.do?query=MEFV&submit=Quick%0D%3004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEFV	rs224225	0.389377	0.4763	0.4382	1	0	0	exonic	exonic	exonic	MEFV	MEFV	ENSG00000103313	synonymous SNV	synonymous SNV	unknown	MEFV:NM_000243:exon2:c.T306C:p.D102D,	MEFV:uc002cun.1:exon2:c.T306C:p.D102D,	UNKNOWN	Het;A>G	780;37|38	Hom;A>G	1310;0|45
N	N	-	16	3317178	3317178	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00921																		rs1149487	0.127995	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	LINC00921	LINC00921	ENSG00000006194	Na	Na	Na	Na	Na	Na	Het;C>T	999;37|46	Hom;C>T	2056;1|78
N	N	-	16	333017	333017	G	T	snp	UTR5;UTR3	-153G>T	 	 	 	PDIA2	Pdia2	ENSG00000185615	protein disulfide isomerase family A member 2	chr16:333152-337215	Protein disulfide isomerases (EC 5.3.4.1), such as PDIP, are endoplasmic reticulum (ER) resident proteins that catalyze protein folding and thiol-disulfide interchange reactions (Desilva et al., 1996 [PubMed 8561901]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Congenital Heart Defects|Heart Defects, Congenital	 		GO:0006457;protein folding;TAS|GO:0006621;protein retention in ER lumen;TAS|GO:0019511;peptidyl-proline hydroxylation;IEA|GO:0034975;protein folding in endoplasmic reticulum;TAS|GO:0034976;response to endoplasmic reticulum stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IBA	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005788;endoplasmic reticulum lumen;IEA	GO:0003756;protein disulfide isomerase activity;TAS|GO:0005496;steroid binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015036;disulfide oxidoreductase activity;TAS|GO:0015037;peptide disulfide oxidoreductase activity;IDA|GO:0016853;isomerase activity;IEA|GO:0031545;peptidyl-proline 4-dioxygenase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PDIA2			https://www.ncbi.nlm.nih.gov/omim/?term=608012	http://www.informatics.jax.org/searchtool/Search.do?query=PDIA2&submit=Quick%0D%15447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDIA2	rs440401	0.446685	0	0	1	0	0	upstream;downstream	UTR5;UTR3	upstream;downstream	PDIA2;ARHGDIG	PDIA2(uc002cgn.1:c.-153G>T,uc002cgo.1:c.-153G>T,uc010bqt.1:c.-1701G>T);ARHGDIG(uc002cgm.1:c.*203G>T)	ENSG00000185615;ENSG00000242173	Na	Na	Na	Na	Na	Na	Het;G>T	79;3|3	Hom;G>T	107;0|3
N	N	-	16	33965815	33965815	C	T	snp	downstream	 	 	 	 	RNA5-8SP2																		rs75461807	0	0	0	1	0	0	intergenic	downstream	downstream	LINC00273(dist=3312),UBE2MP1(dist=437987)	JB175072	ENSG00000200434	Na	Na	Na	Na	Na	Na	Het;C>T	238;2|7	Hom;C>T	197;0|5
N	N	-	16	33965900	33965900	A	G	snp	downstream	 	 	 	 	RNA5-8SP2																		rs36189779	0	0	0	1	0	0	intergenic	downstream	downstream	LINC00273(dist=3397),UBE2MP1(dist=437902)	JB175072	ENSG00000200434	Na	Na	Na	Na	Na	Na	Het;A>G	302;2|8	Hom;A>G	152;0|4
N	N	-	16	33966126	33966126	T	TA	indel	downstream	 	 	 	 	RNA5-8SP2																		Na	0	0	0	1	0	0	intergenic	downstream	downstream	LINC00273(dist=3623),UBE2MP1(dist=437676)	JB175072	ENSG00000200434	Na	Na	Na	Na	Na	Na	Het;+A	86;1|3	Hom;+A	98;0|2
N	N	-	16	33966127	33966127	C	CTG	indel	downstream	 	 	 	 	RNA5-8SP2																		Na	0	0	0	1	0	0	intergenic	downstream	downstream	LINC00273(dist=3624),UBE2MP1(dist=437675)	JB175072	ENSG00000200434	Na	Na	Na	Na	Na	Na	Het;+TG	86;1|3	Hom;+TG	98;0|2
N	N	-	16	33966156	33966156	G	A	snp	downstream	 	 	 	 	RNA5-8SP2																		rs77995846	0	0	0	1	0	0	intergenic	downstream	downstream	LINC00273(dist=3653),UBE2MP1(dist=437646)	JB175072	ENSG00000200434	Na	Na	Na	Na	Na	Na	Het;G>A	138;3|5	Hom;G>A	72;0|3
N	N	-	16	33966217	33966217	T	C	snp	downstream	 	 	 	 	RNA5-8SP2																		rs72806947	0.0433307	0	0	1	0	0	intergenic	downstream	downstream	LINC00273(dist=3714),UBE2MP1(dist=437585)	JB175072	ENSG00000200434	Na	Na	Na	Na	Na	Na	Het;T>C	124;6|3	Hom;T>C	152;0|4
N	N	-	16	3440390	3440390	C	T	snp	intronic	 	 	 	 	ZSCAN32	 	ENSG00000140987	zinc finger and SCAN domain containing 32	chr16:3432085-3451065		Blood Pressure	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN32	https://www.uniprot.org/uniprot/Q9NX65			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN32&submit=Quick%0D%8102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN32	rs4786412	0.457468	0	0.5108	1	0	0	intronic	intronic	intronic	ZSCAN32	ZSCAN32	ENSG00000140987,ENSG00000262621	Na	Na	Na	Na	Na	Na	Het;C>T	99;20|7	Hom;C>T	1197;0|25
N	N	-	16	3963187	3963187	C	G	snp	intergenic	 	 	 	 	CREBBP	Crebbp	ENSG00000005339	CREB binding protein	chr16:3775055-3930727	This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]	plasma HDL cholesterol (HDL-C) levels; bronchodilator response; antipsychotic response | Weight Gain; osteonecrosis, steroid induced; depression; Spinal Dysraphism; Femur Head Necrosis|; Rubinstein-Taybi syndrome; Alzheimer's disease ; Dengue Hemorrhagic Fever; Huntington disease-like; Body Weights and Measures; breast cancer 	Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006473;protein acetylation;IDA|GO:0007165;signal transduction;TAS|GO:0007219;Notch signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0016032;viral process;IEA|GO:0016573;histone acetylation;IDA|GO:0018076;N-terminal peptidyl-lysine acetylation;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0034644;cellular response to UV;IDA|GO:0042592;homeostatic process;NAS|GO:0042733;embryonic digit morphogenesis;TAS|GO:0042981;regulation of apoptotic process;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048511;rhythmic process;IEA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0000123;histone acetyltransferase complex;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0016604;nuclear body;IDA	GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001102;RNA polymerase II activating transcription factor binding;TAS|GO:0001105;RNA polymerase II transcription coactivator activity;TAS|GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IDA|GO:0002039;p53 binding;IPI|GO:0003682;chromatin binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003712;transcription cofactor activity;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016407;acetyltransferase activity;EXP|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0034212;peptide N-acetyltransferase activity;TAS|GO:0043426;MRF binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREBBP	https://www.uniprot.org/uniprot/Q92793	https://hpo.jax.org/app/browse/search?q=CREBBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600140	http://www.informatics.jax.org/searchtool/Search.do?query=CREBBP&submit=Quick%0D%359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREBBP	rs9923088	0.459665	0	0	1	0	0	intergenic	intergenic	intergenic	CREBBP(dist=33066),LOC102724927(dist=34439)	CREBBP(dist=33066),ADCY9(dist=49463)	ENSG00000005339(dist=32460),ENSG00000262888(dist=18031)	Na	Na	Na	Na	Na	Na	Het;C>G	85;6|6	Hom;C>G	260;0|11
N	N	-	16	4253117	4253117	C	T	snp	intronic	 	 	 	 	SRL	Srl	ENSG00000185739	sarcalumenin	chr16:4239375-4292081		Diabetes Mellitus	Homozygous null mice exhibit impaired calcium store functions in skeletal and cardiac muscle cells resulting in slow contraction and relaxation phases. Muscle also exhibits enhanced resistance to fatigue.			GO:0016529;sarcoplasmic reticulum;IEA|GO:0033018;sarcoplasmic reticulum lumen;IEA	GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SRL			https://www.ncbi.nlm.nih.gov/omim/?term=604992	http://www.informatics.jax.org/searchtool/Search.do?query=SRL&submit=Quick%0D%15479ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRL	rs13339613	0.0986422	0.1270	0.1438	1	0	0	intronic	intronic	intronic	SRL	SRL	ENSG00000185739	Na	Na	Na	Na	Na	Na	Het;C>T	148;6|8	Hom;C>T	244;0|9
N	N	-	16	430842	430842	C	G	snp	intronic	 	 	 	 	TMEM8A	Tmem8	ENSG00000129925	transmembrane protein 8A	chr16:420773-437113			Mice homozygous for a knock-out allele exhibit defects in rostral-caudal axis patterning, embryonic growth arrest, and embryonic lethality.		GO:0007155;cell adhesion;IEA|GO:0008150;biological_process;ND	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;IBA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM8A	https://www.uniprot.org/uniprot/Q9HCN3			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM8A&submit=Quick%0D%6292ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM8A	rs3785289	0.552516	0	0	1	0	0	intronic	intronic	intronic	TMEM8A	TMEM8A	ENSG00000129925	Na	Na	Na	Na	Na	Na	Het;C>G	254;6|13	Hom;C>G	401;0|16
N	N	-	16	46388407	46388407	C	T	snp	intergenic	 	 	 	 	NONE																		rs4447453	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),ANKRD26P1(dist=114842)	NONE(dist=NONE),ANKRD26P1(dist=114842)	NONE(dist=NONE),ENSG00000261239(dist=114846)	Na	Na	Na	Na	Na	Na	Het;C>T	66;4|4	Hom;C>T	134;0|6
N	N	-	16	46435457	46435457	A	G	snp	intergenic	 	 	 	 	NONE																		rs4493078	0.324481	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),ANKRD26P1(dist=67792)	NONE(dist=NONE),ANKRD26P1(dist=67792)	NONE(dist=NONE),ENSG00000261239(dist=67796)	Na	Na	Na	Na	Na	Na	Het;A>G	218;1|11	Hom;A>G	113;0|5
N	N	-	16	4815602	4815602	T	C	snp	synonymous SNV	A378G	E126E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ZNF500	 	ENSG00000103199	zinc finger protein 500	chr16:4798240-4817625			 	Generic Transcription Pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF500	https://www.uniprot.org/uniprot/O60304			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF500&submit=Quick%0D%2985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF500	rs12919587	0.491014	0.4885	0.5554	1	0	0	exonic	exonic	exonic	ZNF500	ZNF500	ENSG00000103199	synonymous SNV	synonymous SNV	unknown	ZNF500:NM_001303450:exon2:c.A378G:p.E126E,ZNF500:NM_021646:exon2:c.A378G:p.E126E,	ZNF500:uc002cxp.1:exon2:c.A378G:p.E126E,ZNF500:uc010uxt.1:exon2:c.A378G:p.E126E,	UNKNOWN	Het;T>C	803;40|37	Hom;T>C	3482;0|78
N	N	-	16	48609155	48609155	A	C	snp	ncRNA_intronic	 	 	 	 	MIR5095																		rs4785523	0.299121	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	MIR5095	N4BP1	ENSG00000261267	Na	Na	Na	Na	Na	Na	Het;A>C	148;3|5	Hom;A>C	270;0|8
N	N	-	16	48753664	48753664	T	C	snp	ncRNA_intronic	 	 	 	 	AC007611.1																		rs1420721	0.340256	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR5095(dist=95627),CBLN1(dist=558165)	N4BP1(dist=109544),U6(dist=11951)	ENSG00000260086	Na	Na	Na	Na	Na	Na	Het;T>C	120;7|7	Hom;T>C	103;0|4
N	N	-	16	49412531	49412531	A	G	snp	intronic	 	 	 	 	C16orf78	4933402J07Rik	ENSG00000166152	chromosome 16 open reading frame 78	chr16:49407734-49433342		Electrocardiography	 			GO:0005634;nucleus;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C16orf78				http://www.informatics.jax.org/searchtool/Search.do?query=C16orf78&submit=Quick%0D%11709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf78	rs27813	0.723442	0.6794	0.6578	1	0	0	intronic	intronic	intronic	C16orf78	C16orf78	ENSG00000166152	Na	Na	Na	Na	Na	Na	Het;A>G	865;59|40	Hom;A>G	2686;0|96
N	N	-	16	49804502	49804502	C	T	snp	intronic	 	 	 	 	ZNF423	Zfp423	ENSG00000102935	zinc finger protein 423	chr16:49521435-49891830	The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]	Attention Deficit Disorder with Hyperactivity; Fibrinogen; Tobacco Use Disorder; Erythrocyte Count; Asthma; Cell Adhesion Molecules; inattentive symptoms	Mutations in this gene lead to postnatal lethality, abnormal gait, ataxia, reduced body size, loss of the corpus callosum, reduction of the hippocampus, olfactory bulb defects, and variable malformation of the cerebellum, including vermis agenesis, due to reduced proliferation of neural precursors.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF423	https://www.uniprot.org/uniprot/Q2M1K9	https://hpo.jax.org/app/browse/search?q=ZNF423&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604557	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF423&submit=Quick%0D%2938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF423	rs12931268	0.757788	0	0	1	0	0	intronic	intronic	intronic	ZNF423	ZNF423	ENSG00000102935	Na	Na	Na	Na	Na	Na	Het;C>T	177;4|10	Hom;C>T	421;0|17
N	N	-	16	50334840	50334841	AG	A	indel	intronic	 	 	 	 	ADCY7	Adcy7	ENSG00000121281	adenylate cyclase 7	chr16:50280048-50352046	This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]	bronchodilator response; alcohol consumption	Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality.  Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors.	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0022904;respiratory electron transport chain;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0071361;cellular response to ethanol;IDA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004129;cytochrome-c oxidase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY7	https://www.uniprot.org/uniprot/P51828		https://www.ncbi.nlm.nih.gov/omim/?term=600385	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY7&submit=Quick%0D%5299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY7	rs3833062	0.300719	0	0	1	0	0	intronic	intronic	intronic	ADCY7	ADCY7	ENSG00000121281	Na	Na	Na	Na	Na	Na	Het;-G	727;20|26	Hom;-G	924;0|27
N	N	-	16	50335150	50335151	TG	T	indel	intronic	 	 	 	 	ADCY7	Adcy7	ENSG00000121281	adenylate cyclase 7	chr16:50280048-50352046	This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]	bronchodilator response; alcohol consumption	Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality.  Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors.	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0022904;respiratory electron transport chain;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0071361;cellular response to ethanol;IDA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004129;cytochrome-c oxidase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY7	https://www.uniprot.org/uniprot/P51828		https://www.ncbi.nlm.nih.gov/omim/?term=600385	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY7&submit=Quick%0D%5299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY7	rs35262781	0.29992	0.3224	0.3371	1	0	0	intronic	intronic	intronic	ADCY7	ADCY7	ENSG00000121281	Na	Na	Na	Na	Na	Na	Het;-G	752;37|32	Hom;-G	2108;0|69
N	N	-	16	50345710	50345712	GCC	G	indel	intronic	 	 	 	 	ADCY7	Adcy7	ENSG00000121281	adenylate cyclase 7	chr16:50280048-50352046	This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]	bronchodilator response; alcohol consumption	Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality.  Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors.	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0022904;respiratory electron transport chain;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0071361;cellular response to ethanol;IDA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004129;cytochrome-c oxidase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY7	https://www.uniprot.org/uniprot/P51828		https://www.ncbi.nlm.nih.gov/omim/?term=600385	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY7&submit=Quick%0D%5299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY7	rs755482226	0	0	0.0868	1	0	0	intronic	intronic	intronic	ADCY7	ADCY7	ENSG00000121281	Na	Na	Na	Na	Na	Na	Het;-CC	106;2|5	Hom;-CC	111;0|5
N	N	-	16	50642201	50642201	G	C	snp	ncRNA_exonic	 	 	 	 	AC007608.1																		rs933566	0.735024	0.5655	0.5991	1	0	0	intronic	intronic	ncRNA_exonic	NKD1	NKD1	ENSG00000205414	Na	Na	Na	Na	Na	Na	Het;G>C	977;43|46	Hom;G>C	1871;0|70
N	N	-	16	50935672	50935672	G	T	snp	downstream	 	 	 	 	LINC02128																		rs4785471	0.651158	0	0	1	0	0	intergenic	intergenic	downstream	CYLD(dist=99826),LOC101927334(dist=115997)	CYLD(dist=99826),SALL1(dist=234214)	ENSG00000261241	Na	Na	Na	Na	Na	Na	Het;G>T	89;3|3	Hom;G>T	147;0|5
N	N	-	16	5105440	5105440	T	C	snp	intronic	 	 	 	 	C16orf89	AU021092	ENSG00000153446	chromosome 16 open reading frame 89	chr16:5094123-5116111	This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]		 			GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C16orf89	https://www.uniprot.org/uniprot/Q6UX73			http://www.informatics.jax.org/searchtool/Search.do?query=C16orf89&submit=Quick%0D%9665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf89	rs741166	0.526957	0	0	1	0	0	intronic	intronic	intronic	C16orf89	ALG1,C16orf89	ENSG00000033011,ENSG00000153446	Na	Na	Na	Na	Na	Na	Het;T>C	109;16|6	Hom;T>C	514;0|17
N	N	-	16	5105486	5105486	A	C	snp	intronic	 	 	 	 	C16orf89	AU021092	ENSG00000153446	chromosome 16 open reading frame 89	chr16:5094123-5116111	This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]		 			GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C16orf89	https://www.uniprot.org/uniprot/Q6UX73			http://www.informatics.jax.org/searchtool/Search.do?query=C16orf89&submit=Quick%0D%9665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf89	rs741165	0.48762	0	0	1	0	0	intronic	intronic	intronic	C16orf89	ALG1,C16orf89	ENSG00000033011,ENSG00000153446	Na	Na	Na	Na	Na	Na	Het;A>C	92;4|4	Hom;A>C	148;0|5
N	N	-	16	5106184	5106184	C	T	snp	synonymous SNV	G633A	G211G	aliphatic,neutral	aliphatic,neutral	C16orf89	AU021092	ENSG00000153446	chromosome 16 open reading frame 89	chr16:5094123-5116111	This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]		 			GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C16orf89	https://www.uniprot.org/uniprot/Q6UX73			http://www.informatics.jax.org/searchtool/Search.do?query=C16orf89&submit=Quick%0D%9665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf89	rs741164	0.522963	0.5683	0.5848	1	0	0	exonic	exonic	exonic	C16orf89	C16orf89	ENSG00000153446	synonymous SNV	synonymous SNV	unknown	C16orf89:NM_152459:exon5:c.G633A:p.G211G,C16orf89:NM_001098514:exon5:c.G633A:p.G211G,	C16orf89:uc010bud.3:exon5:c.G633A:p.G211G,C16orf89:uc002cyk.4:exon5:c.G633A:p.G211G,	UNKNOWN	Het;C>T	1117;57|58	Hom;C>T	3069;0|118
N	N	-	16	51186025	51186025	C	G	snp	upstream	 	 	 	 	SALL1	Sall1	ENSG00000103449	spalt like transcription factor 1	chr16:51169886-51185278	The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Luteinizing Hormone; Cleft Lip|Cleft Palate	Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys.	POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001657;ureteric bud development;ISS|GO:0001658;branching involved in ureteric bud morphogenesis;ISS|GO:0001822;kidney development;IMP|GO:0003281;ventricular septum development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;IMP|GO:0008406;gonad development;IEP|GO:0016575;histone deacetylation;IEA|GO:0021553;olfactory nerve development;ISS|GO:0021889;olfactory bulb interneuron differentiation;ISS|GO:0021983;pituitary gland development;IEP|GO:0022008;neurogenesis;IBA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030325;adrenal gland development;IEP|GO:0031129;inductive cell-cell signaling;ISS|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042473;outer ear morphogenesis;IMP|GO:0042733;embryonic digit morphogenesis;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0060173;limb development;IMP|GO:0061034;olfactory bulb mitral cell layer development;IMP|GO:0072073;kidney epithelium development;ISS|GO:0072092;ureteric bud invasion;ISS	GO:0000792;heterochromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0010369;chromocenter;IDA|GO:0016581;NuRD complex;ISS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004407;histone deacetylase activity;ISS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SALL1	https://www.uniprot.org/uniprot/Q9NSC2	https://hpo.jax.org/app/browse/search?q=SALL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602218	http://www.informatics.jax.org/searchtool/Search.do?query=SALL1&submit=Quick%0D%3024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SALL1	rs62039688	0.478435	0	0	1	0	0	upstream	upstream	upstream	SALL1	SALL1	ENSG00000103449	Na	Na	Na	Na	Na	Na	Het;C>G	210;1|9	Hom;C>G	46;0|3
N	N	-	16	5122072	5122072	G	GGTCT	indel	unknown	 	 	 	 	ALG1	Alg1	ENSG00000033011	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	chr16:5083703-5137380	The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;TAS|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000030;mannosyltransferase activity;TAS|GO:0004578;chitobiosyldiphosphodolichol beta-mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG1	https://www.uniprot.org/uniprot/Q9BT22	https://hpo.jax.org/app/browse/search?q=ALG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605907	http://www.informatics.jax.org/searchtool/Search.do?query=ALG1&submit=Quick%0D%750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG1	rs112683515	0.583466	0.5126	0.6041	1	0	0	intronic	UTR5	exonic	ALG1	ALG1(uc010bue.3:c.-1129G>GGTCT)	ENSG00000033011	Na	Na	unknown	Na	Na	UNKNOWN	Het;+GTCT	1330;34|35	Hom;+GTCT	3701;0|84
N	N	-	16	51282382	51282382	T	C	snp	intergenic	 	 	 	 	AC137527.2																		rs12708988	0	0	0	1	0	0	intergenic	intergenic	intergenic	SALL1(dist=97199),LINC01571(dist=514048)	SALL1(dist=97199),7SK(dist=422765)	ENSG00000261047(dist=4348),ENSG00000260818(dist=29381)	Na	Na	Na	Na	Na	Na	Het;T>C	210;9|10	Hom;T>C	1392;0|52
N	N	-	16	5128981	5128981	G	A	snp	intronic	 	 	 	 	ALG1	Alg1	ENSG00000033011	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	chr16:5083703-5137380	The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;TAS|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000030;mannosyltransferase activity;TAS|GO:0004578;chitobiosyldiphosphodolichol beta-mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG1	https://www.uniprot.org/uniprot/Q9BT22	https://hpo.jax.org/app/browse/search?q=ALG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605907	http://www.informatics.jax.org/searchtool/Search.do?query=ALG1&submit=Quick%0D%750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG1	rs1846690	0.541334	0	0	1	0	0	intronic	intronic	intronic	ALG1	ALG1	ENSG00000033011	Na	Na	Na	Na	Na	Na	Het;G>A	982;45|38	Hom;G>A	1646;0|54
N	N	-	16	5128995	5128995	C	T	snp	intronic	 	 	 	 	ALG1	Alg1	ENSG00000033011	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	chr16:5083703-5137380	The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;TAS|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000030;mannosyltransferase activity;TAS|GO:0004578;chitobiosyldiphosphodolichol beta-mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG1	https://www.uniprot.org/uniprot/Q9BT22	https://hpo.jax.org/app/browse/search?q=ALG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605907	http://www.informatics.jax.org/searchtool/Search.do?query=ALG1&submit=Quick%0D%750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG1	rs1846689	0.542332	0	0	1	0	0	intronic	intronic	intronic	ALG1	ALG1	ENSG00000033011	Na	Na	Na	Na	Na	Na	Het;C>T	965;33|38	Hom;C>T	1490;0|51
N	N	-	16	5129174	5129174	C	T	snp	intronic	 	 	 	 	ALG1	Alg1	ENSG00000033011	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	chr16:5083703-5137380	The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;TAS|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000030;mannosyltransferase activity;TAS|GO:0004578;chitobiosyldiphosphodolichol beta-mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG1	https://www.uniprot.org/uniprot/Q9BT22	https://hpo.jax.org/app/browse/search?q=ALG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605907	http://www.informatics.jax.org/searchtool/Search.do?query=ALG1&submit=Quick%0D%750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG1	rs1846688	0.542532	0	0	1	0	0	intronic	intronic	intronic	ALG1	ALG1	ENSG00000033011	Na	Na	Na	Na	Na	Na	Het;C>T	757;14|34	Hom;C>T	1639;0|61
N	N	-	16	5130310	5130310	C	T	snp	intronic	 	 	 	 	ALG1	Alg1	ENSG00000033011	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	chr16:5083703-5137380	The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;TAS|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000030;mannosyltransferase activity;TAS|GO:0004578;chitobiosyldiphosphodolichol beta-mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG1	https://www.uniprot.org/uniprot/Q9BT22	https://hpo.jax.org/app/browse/search?q=ALG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605907	http://www.informatics.jax.org/searchtool/Search.do?query=ALG1&submit=Quick%0D%750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG1	rs2011810	0.542332	0	0	1	0	0	intronic	intronic	intronic	ALG1	ALG1	ENSG00000033011	Na	Na	Na	Na	Na	Na	Het;C>T	306;23|17	Hom;C>T	1012;0|37
N	N	-	16	5132636	5132636	C	T	snp	synonymous SNV	C1149T	F383F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	ALG1	Alg1	ENSG00000033011	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	chr16:5083703-5137380	The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;TAS|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000030;mannosyltransferase activity;TAS|GO:0004578;chitobiosyldiphosphodolichol beta-mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG1	https://www.uniprot.org/uniprot/Q9BT22	https://hpo.jax.org/app/browse/search?q=ALG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605907	http://www.informatics.jax.org/searchtool/Search.do?query=ALG1&submit=Quick%0D%750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG1	rs1047732	0.519768	0.4694	0.5243	1	0	0	exonic	exonic	exonic	ALG1	ALG1	ENSG00000033011	synonymous SNV	synonymous SNV	unknown	ALG1:NM_019109:exon11:c.C1149T:p.F383F,	ALG1:uc002cym.3:exon11:c.C1149T:p.F383F,ALG1:uc002cyj.3:exon12:c.C816T:p.F272F,ALG1:uc010bue.3:exon11:c.C816T:p.F272F,	UNKNOWN	Het;C>T	3671;177|178	Hom;C>T	7892;1|294
N	N	-	16	5133606	5133606	G	T	snp	intronic	 	 	 	 	ALG1	Alg1	ENSG00000033011	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	chr16:5083703-5137380	The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006486;protein glycosylation;TAS|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000030;mannosyltransferase activity;TAS|GO:0004578;chitobiosyldiphosphodolichol beta-mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG1	https://www.uniprot.org/uniprot/Q9BT22	https://hpo.jax.org/app/browse/search?q=ALG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605907	http://www.informatics.jax.org/searchtool/Search.do?query=ALG1&submit=Quick%0D%750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG1	rs8056523	0.558506	0	0	1	0	0	intronic	intronic	intronic	ALG1	ALG1	ENSG00000033011	Na	Na	Na	Na	Na	Na	Het;G>T	624;20|29	Hom;G>T	583;0|20
N	N	-	16	5139217	5139217	C	G	snp	synonymous SNV	G681C	G227G	aliphatic,neutral	aliphatic,neutral	FAM86A	 																	rs9745857	0.808906	0.8262	0.8544	1	0	0	exonic	exonic	exonic	EEF2KMT	FAM86A	ENSG00000118894	synonymous SNV	synonymous SNV	unknown	EEF2KMT:NM_201598:exon6:c.G681C:p.G227G,EEF2KMT:NM_001289029:exon5:c.G600C:p.G200G,EEF2KMT:NM_201400:exon7:c.G783C:p.G261G,	FAM86A:uc002cyp.2:exon6:c.G681C:p.G227G,FAM86A:uc002cyo.2:exon7:c.G783C:p.G261G,	UNKNOWN	Het;C>G	6553;392|309	Hom;C>G	17742;3|623
N	N	-	16	5143647	5143647	A	G	snp	intronic	 	 	 	 	EEF2KMT	Eef2kmt																	rs35736978	0.504992	0	0	1	0	0	intronic	intronic	intronic	EEF2KMT	FAM86A	ENSG00000118894	Na	Na	Na	Na	Na	Na	Het;A>G	2228;112|97	Hom;A>G	5436;0|187
N	N	-	16	5143737	5143737	T	C	snp	intronic	 	 	 	 	EEF2KMT	Eef2kmt																	rs9746353	0.903754	0	0	1	0	0	intronic	intronic	intronic	EEF2KMT	FAM86A	ENSG00000118894	Na	Na	Na	Na	Na	Na	Het;T>C	326;30|17	Hom;T>C	1377;0|47
N	N	-	16	5147864	5147864	G	A	snp	upstream	 	 	 	 	FAM86A	 																	rs10438590	0.836661	0	0	1	0	0	upstream	upstream	upstream	EEF2KMT	FAM86A	ENSG00000118894,ENSG00000267070	Na	Na	Na	Na	Na	Na	Het;G>A	273;1|9	Hom;G>A	616;0|19
N	N	-	16	5289465	5289465	A	G	snp	upstream	 	 	 	 	BC108660																		rs2004775	0.678115	0	0	1	0	0	intergenic	upstream	upstream	EEF2KMT(dist=141644),LINC01570(dist=361705)	BC108660	ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;A>G	372;3|17	Hom;A>G	496;0|18
N	N	-	16	52901284	52901284	C	G	snp	intergenic	 	 	 	 	AC026462.1																		rs7205842	0	0	0	1	0	0	intergenic	intergenic	intergenic	CASC16(dist=260397),CHD9(dist=187661)	LINC00918(dist=260397),CHD9(dist=187661)	ENSG00000234337(dist=211322),ENSG00000260326(dist=67441)	Na	Na	Na	Na	Na	Na	Het;C>G	646;2|17	Hom;C>G	550;0|13
N	N	-	16	5338353	5338353	T	G	snp	ncRNA_intronic	 	 	 	 	AC074051.2																		rs9930552	0.781949	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	EEF2KMT(dist=190532),LINC01570(dist=312817)	BC108660	ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;T>G	391;29|21	Hom;T>G	1505;0|52
N	N	-	16	53634295	53634295	C	T	snp	UTR3	*1693G>A	 	 	 	RPGRIP1L	Rpgrip1l	ENSG00000103494	RPGRIP1 like	chr16:53631595-53737850	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]	 Joubert syndrome; schizophrenia; diabetes, type 2 | diabetes, type 1; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.	Anchoring of the basal body to the plasma membrane	GO:0001701;in utero embryonic development;IEA|GO:0001736;establishment of planar polarity;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0021532;neural tube patterning;IEA|GO:0021537;telencephalon development;IEA|GO:0021549;cerebellum development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021772;olfactory bulb development;IEA|GO:0022038;corpus callosum development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043584;nose development;IEA|GO:0044767;single-organism developmental process;IEA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0060039;pericardium development;IEA|GO:0060271;cilium assembly;IEA|GO:0060322;head development;IEA|GO:0090102;cochlea development;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005879;axonemal microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0031870;thromboxane A2 receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1L	https://www.uniprot.org/uniprot/Q68CZ1	https://hpo.jax.org/app/browse/search?q=RPGRIP1L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610937	http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1L&submit=Quick%0D%3030ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1L	rs1946155	0.476637	0	0	1	0	0	UTR3	UTR3	UTR3	RPGRIP1L(NM_001127897:c.*1693G>A,NM_015272:c.*1693G>A)	RPGRIP1L(uc002ehp.3:c.*1693G>A,uc002eho.4:c.*1693G>A,uc010vgy.2:c.*1693G>A,uc010cbx.3:c.*1693G>A)	ENSG00000103494(ENST00000262135:c.*1693G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	455;19|22	Hom;C>T	1203;0|44
N	N	-	16	53635251	53635251	A	C	snp	UTR3	*737T>G	 	 	 	RPGRIP1L	Rpgrip1l	ENSG00000103494	RPGRIP1 like	chr16:53631595-53737850	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]	 Joubert syndrome; schizophrenia; diabetes, type 2 | diabetes, type 1; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.	Anchoring of the basal body to the plasma membrane	GO:0001701;in utero embryonic development;IEA|GO:0001736;establishment of planar polarity;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0021532;neural tube patterning;IEA|GO:0021537;telencephalon development;IEA|GO:0021549;cerebellum development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021772;olfactory bulb development;IEA|GO:0022038;corpus callosum development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043584;nose development;IEA|GO:0044767;single-organism developmental process;IEA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0060039;pericardium development;IEA|GO:0060271;cilium assembly;IEA|GO:0060322;head development;IEA|GO:0090102;cochlea development;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005879;axonemal microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0031870;thromboxane A2 receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1L	https://www.uniprot.org/uniprot/Q68CZ1	https://hpo.jax.org/app/browse/search?q=RPGRIP1L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610937	http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1L&submit=Quick%0D%3030ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1L	rs3760008	0.477037	0	0	1	0	0	UTR3	UTR3	UTR3	RPGRIP1L(NM_001127897:c.*737T>G,NM_015272:c.*737T>G)	RPGRIP1L(uc002ehp.3:c.*737T>G,uc002eho.4:c.*737T>G,uc010vgy.2:c.*737T>G,uc010cbx.3:c.*737T>G)	ENSG00000103494(ENST00000262135:c.*737T>G,ENST00000379925:c.*737T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	245;19|10	Hom;A>C	1065;0|36
N	N	-	16	53635933	53635933	A	T	snp	UTR3	*55T>A	 	 	 	RPGRIP1L	Rpgrip1l	ENSG00000103494	RPGRIP1 like	chr16:53631595-53737850	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]	 Joubert syndrome; schizophrenia; diabetes, type 2 | diabetes, type 1; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.	Anchoring of the basal body to the plasma membrane	GO:0001701;in utero embryonic development;IEA|GO:0001736;establishment of planar polarity;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0021532;neural tube patterning;IEA|GO:0021537;telencephalon development;IEA|GO:0021549;cerebellum development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021772;olfactory bulb development;IEA|GO:0022038;corpus callosum development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043584;nose development;IEA|GO:0044767;single-organism developmental process;IEA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0060039;pericardium development;IEA|GO:0060271;cilium assembly;IEA|GO:0060322;head development;IEA|GO:0090102;cochlea development;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005879;axonemal microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0031870;thromboxane A2 receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1L	https://www.uniprot.org/uniprot/Q68CZ1	https://hpo.jax.org/app/browse/search?q=RPGRIP1L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610937	http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1L&submit=Quick%0D%3030ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1L	rs4784319	0.477037	0	0	1	0	0	UTR3	UTR3	UTR3	RPGRIP1L(NM_001127897:c.*55T>A,NM_015272:c.*55T>A)	RPGRIP1L(uc002ehp.3:c.*55T>A,uc002eho.4:c.*55T>A,uc010vgy.2:c.*55T>A,uc010cbx.3:c.*55T>A)	ENSG00000103494(ENST00000262135:c.*55T>A,ENST00000379925:c.*55T>A,ENST00000563746:c.*55T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	596;16|29	Hom;A>T	862;0|32
N	N	-	16	53672355	53672355	C	T	snp	intronic	 	 	 	 	RPGRIP1L	Rpgrip1l	ENSG00000103494	RPGRIP1 like	chr16:53631595-53737850	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]	 Joubert syndrome; schizophrenia; diabetes, type 2 | diabetes, type 1; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.	Anchoring of the basal body to the plasma membrane	GO:0001701;in utero embryonic development;IEA|GO:0001736;establishment of planar polarity;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0021532;neural tube patterning;IEA|GO:0021537;telencephalon development;IEA|GO:0021549;cerebellum development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021772;olfactory bulb development;IEA|GO:0022038;corpus callosum development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043584;nose development;IEA|GO:0044767;single-organism developmental process;IEA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0060039;pericardium development;IEA|GO:0060271;cilium assembly;IEA|GO:0060322;head development;IEA|GO:0090102;cochlea development;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005879;axonemal microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0031870;thromboxane A2 receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1L	https://www.uniprot.org/uniprot/Q68CZ1	https://hpo.jax.org/app/browse/search?q=RPGRIP1L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610937	http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1L&submit=Quick%0D%3030ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1L	rs7203525	0.484625	0.4036	0.3575	1	0	0	intronic	intronic	intronic	RPGRIP1L	RPGRIP1L	ENSG00000103494	Na	Na	Na	Na	Na	Na	Het;C>T	858;33|42	Hom;C>T	2530;0|93
N	N	-	16	54073527	54073527	C	T	snp	ncRNA_exonic	 	 	 	 	FTO-IT1																		rs856981	0.597444	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	FTO-IT1	FTO	ENSG00000260936	Na	Na	Na	Na	Na	Na	Het;C>T	631;88|35	Hom;C>T	2361;0|85
N	N	-	16	54073612	54073612	C	T	snp	ncRNA_exonic	 	 	 	 	FTO-IT1																		rs856982	0.518171	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	FTO-IT1	FTO	ENSG00000260936	Na	Na	Na	Na	Na	Na	Het;C>T	599;72|34	Hom;C>T	2280;0|82
N	N	-	16	54073776	54073776	A	G	snp	ncRNA_exonic	 	 	 	 	FTO-IT1																		rs856983	0.539137	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	FTO-IT1	FTO	ENSG00000260936	Na	Na	Na	Na	Na	Na	Het;A>G	1678;86|80	Hom;A>G	4585;2|162
N	N	-	16	54074127	54074127	A	G	snp	ncRNA_exonic	 	 	 	 	FTO-IT1																		rs3764307	0.526957	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	FTO-IT1	FTO	ENSG00000260936	Na	Na	Na	Na	Na	Na	Het;A>G	740;21|30	Hom;A>G	1545;0|56
N	N	-	16	54404365	54404365	A	ACGGT	indel	ncRNA_exonic	 	 	 	 	LINC02140																		rs10667076	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IRX3(dist=83987),CRNDE(dist=548412)	IRX3(dist=83987),CRNDE(dist=548412)	ENSG00000261803	Na	Na	Na	Na	Na	Na	Het;+CGGT	1814;71|50	Hom;+CGGT	3721;0|84
N	N	-	16	55361493	55361493	C	T	snp	ncRNA_intronic	 	 	 	 	AC109462.2																		rs31082	0.309305	0.3040	0.3442	1	0	0	intronic	intronic	ncRNA_intronic	IRX6	IRX6	ENSG00000259283	Na	Na	Na	Na	Na	Na	Het;C>T	703;33|35	Hom;C>T	2664;0|96
N	N	-	16	55362542	55362542	C	G	snp	ncRNA_intronic	 	 	 	 	AC109462.2																		rs31086	0.307308	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IRX6	IRX6	ENSG00000259283	Na	Na	Na	Na	Na	Na	Het;C>G	277;7|11	Hom;C>G	586;0|21
N	N	-	16	55363238	55363238	G	A	snp	ncRNA_intronic	 	 	 	 	AC109462.2																		rs31087	0.333267	0.3103	0.3595	1	0	0	intronic	intronic	ncRNA_intronic	IRX6	IRX6	ENSG00000259283	Na	Na	Na	Na	Na	Na	Het;G>A	1078;65|54	Hom;G>A	3340;0|122
N	N	-	16	55363336	55363336	A	C	snp	ncRNA_intronic	 	 	 	 	AC109462.2																		rs31088	0.398363	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IRX6	IRX6	ENSG00000259283	Na	Na	Na	Na	Na	Na	Het;A>C	237;11|8	Hom;A>C	595;0|17
N	N	-	16	55862605	55862605	G	A	snp	intronic	 	 	 	 	CES1	Ces1d	ENSG00000262243	carboxylesterase 1	chr16:55836763-55867249	This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]	cancer; Drug-Induced Liver Injury|Latent Tuberculosis; drug-related genes ; attention deficit hyperactivity disorder; RNA expression; hypertension; carboxylesterase 2 activity; null	Mice homozygous for a knock-out allele exhibit decreased blood lipids, improved glucose tolerance, and increased energy expenditure.	Phase I - Functionalization of compounds	GO:0006695;cholesterol biosynthetic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008152;metabolic process;TAS|GO:0009636;response to toxic substance;TAS|GO:0030855;epithelial cell differentiation;IDA|GO:0051791;medium-chain fatty acid metabolic process;IDA|GO:0090122;cholesterol ester hydrolysis involved in cholesterol transport;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;IEA	GO:0004771;sterol esterase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0047374;methylumbelliferyl-acetate deacetylase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CES1			https://www.ncbi.nlm.nih.gov/omim/?term=114835	http://www.informatics.jax.org/searchtool/Search.do?query=CES1&submit=Quick%0D%20469ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CES1	rs3848300	0.758786	0	0	1	0	0	intronic	intronic	intronic	CES1	CES1	ENSG00000198848	Na	Na	Na	Na	Na	Na	Het;G>A	334;14|13	Hom;G>A	861;0|29
N	N	-	16	56401294	56401294	T	C	snp	intronic	 	 	 	 	AMFR	Amfr	ENSG00000159461	autocrine motility factor receptor	chr16:56395364-56459450	This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]		Mice for a gene-trapped null allele are obese and develop liver steatosis and/or hepatic inflammation resembling nonalcoholic steatohepatitis. Some mice develop liver tumors. Mice homozygous for another knock-out allele exhibit normal HMGCR turnover in mouse embryonic fibroblasts.	ER Quality Control Compartment (ERQC)	GO:0000209;protein polyubiquitination;IMP|GO:0006457;protein folding;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0006928;movement of cell or subcellular component;TAS|GO:0007165;signal transduction;TAS|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;TAS|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0032092;positive regulation of protein binding;IMP|GO:0036503;ERAD pathway;IC|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0051259;protein oligomerization;IDA|GO:0051865;protein autoubiquitination;IDA|GO:0070936;protein K48-linked ubiquitination;IDA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0036513;Derlin-1 retrotranslocation complex;IDA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IDA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0004872;receptor activity;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0030674;protein binding, bridging;IMP|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI|GO:0061630;ubiquitin protein ligase activity;IDA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;TAS|GO:1904288;BAT3 complex binding;IDA|GO:1990381;ubiquitin-specific protease binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AMFR			https://www.ncbi.nlm.nih.gov/omim/?term=603243	http://www.informatics.jax.org/searchtool/Search.do?query=AMFR&submit=Quick%0D%10343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMFR	rs2241957	0.712061	0	0	1	0	0	intronic	intronic	intronic	AMFR	AMFR	ENSG00000159461	Na	Na	Na	Na	Na	Na	Het;T>C	362;4|13	Hom;T>C	286;0|10
N	N	-	16	56441862	56441862	A	G	snp	intronic	 	 	 	 	AMFR	Amfr	ENSG00000159461	autocrine motility factor receptor	chr16:56395364-56459450	This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]		Mice for a gene-trapped null allele are obese and develop liver steatosis and/or hepatic inflammation resembling nonalcoholic steatohepatitis. Some mice develop liver tumors. Mice homozygous for another knock-out allele exhibit normal HMGCR turnover in mouse embryonic fibroblasts.	ER Quality Control Compartment (ERQC)	GO:0000209;protein polyubiquitination;IMP|GO:0006457;protein folding;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0006928;movement of cell or subcellular component;TAS|GO:0007165;signal transduction;TAS|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;TAS|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0032092;positive regulation of protein binding;IMP|GO:0036503;ERAD pathway;IC|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0051259;protein oligomerization;IDA|GO:0051865;protein autoubiquitination;IDA|GO:0070936;protein K48-linked ubiquitination;IDA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0036513;Derlin-1 retrotranslocation complex;IDA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IDA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0004872;receptor activity;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0030674;protein binding, bridging;IMP|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI|GO:0061630;ubiquitin protein ligase activity;IDA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;TAS|GO:1904288;BAT3 complex binding;IDA|GO:1990381;ubiquitin-specific protease binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AMFR			https://www.ncbi.nlm.nih.gov/omim/?term=603243	http://www.informatics.jax.org/searchtool/Search.do?query=AMFR&submit=Quick%0D%10343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMFR	rs2920704	0.699681	0.6615	0.6128	1	0	0	intronic	intronic	intronic	AMFR	AMFR	ENSG00000159461	Na	Na	Na	Na	Na	Na	Het;A>G	1245;47|52	Hom;A>G	3609;0|127
N	N	-	16	56442066	56442066	C	T	snp	intronic	 	 	 	 	AMFR	Amfr	ENSG00000159461	autocrine motility factor receptor	chr16:56395364-56459450	This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]		Mice for a gene-trapped null allele are obese and develop liver steatosis and/or hepatic inflammation resembling nonalcoholic steatohepatitis. Some mice develop liver tumors. Mice homozygous for another knock-out allele exhibit normal HMGCR turnover in mouse embryonic fibroblasts.	ER Quality Control Compartment (ERQC)	GO:0000209;protein polyubiquitination;IMP|GO:0006457;protein folding;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0006928;movement of cell or subcellular component;TAS|GO:0007165;signal transduction;TAS|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;TAS|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0032092;positive regulation of protein binding;IMP|GO:0036503;ERAD pathway;IC|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0051259;protein oligomerization;IDA|GO:0051865;protein autoubiquitination;IDA|GO:0070936;protein K48-linked ubiquitination;IDA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0036513;Derlin-1 retrotranslocation complex;IDA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IDA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0004872;receptor activity;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0030674;protein binding, bridging;IMP|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI|GO:0061630;ubiquitin protein ligase activity;IDA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;TAS|GO:1904288;BAT3 complex binding;IDA|GO:1990381;ubiquitin-specific protease binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AMFR			https://www.ncbi.nlm.nih.gov/omim/?term=603243	http://www.informatics.jax.org/searchtool/Search.do?query=AMFR&submit=Quick%0D%10343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMFR	rs4238787	0.622204	0.6233	0.5730	1	0	0	intronic	intronic	intronic	AMFR	AMFR	ENSG00000159461	Na	Na	Na	Na	Na	Na	Het;C>T	912;65|47	Hom;C>T	3015;0|110
N	N	-	16	56468561	56468561	C	T	snp	intronic	 	 	 	 	NUDT21	Nudt21	ENSG00000167005	nudix hydrolase 21	chr16:56463045-56486111	The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IDA|GO:0031124;mRNA 3'-end processing;TAS|GO:0051262;protein tetramerization;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005849;mRNA cleavage factor complex;IDA|GO:0016604;nuclear body;IDA|GO:0042382;paraspeckles;IDA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0017091;AU-rich element binding;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0042826;histone deacetylase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NUDT21			https://www.ncbi.nlm.nih.gov/omim/?term=604978	http://www.informatics.jax.org/searchtool/Search.do?query=NUDT21&submit=Quick%0D%11931ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT21	rs8056687	0.717851	0	0	1	0	0	intronic	intronic	intronic	NUDT21	NUDT21	ENSG00000167005	Na	Na	Na	Na	Na	Na	Het;C>T	92;3|4	Hom;C>T	109;0|4
N	N	-	16	56535613	56535613	A	C	snp	UTR3	*958T>G	 	 	 	BBS2	Bbs2	ENSG00000125124	Bardet-Biedl syndrome 2	chr16:56500748-56554195	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]	Type 2 Diabetes| edema | rosiglitazone; adiposity; Retinal Diseases; metabolic syndrome obesity	Homozygous null mice display obesity associated with polyphagia, retinopathy associated with mislocalization of rhodopsin, cilia defects, renal cysts, male sterility, abnormal brain neuroanatomy, reduced salivation and acoustic startle response, an olfactory deficit and abnormal social interaction.	BBSome-mediated cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0007601;visual perception;IEA|GO:0008104;protein localization;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014824;artery smooth muscle contraction;IEA|GO:0015031;protein transport;IEA|GO:0021756;striatum development;IEA|GO:0021766;hippocampus development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030030;cell projection organization;IEA|GO:0030534;adult behavior;IEA|GO:0032402;melanosome transport;ISS|GO:0033210;leptin-mediated signaling pathway;IEA|GO:0033365;protein localization to organelle;IEA|GO:0038108;negative regulation of appetite by leptin-mediated signaling pathway;IEA|GO:0040015;negative regulation of multicellular organism growth;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042311;vasodilation;IEA|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0044321;response to leptin;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050896;response to stimulus;IEA|GO:0051216;cartilage development;IEA|GO:0060271;cilium assembly;IEA|GO:0060296;regulation of cilium beat frequency involved in ciliary motility;IEA|GO:1903441;protein localization to ciliary membrane;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005902;microvillus;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0031514;motile cilium;IDA|GO:0032420;stereocilium;IEA|GO:0034464;BBSome;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BBS2	https://www.uniprot.org/uniprot/Q9BXC9	https://hpo.jax.org/app/browse/search?q=BBS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606151	http://www.informatics.jax.org/searchtool/Search.do?query=BBS2&submit=Quick%0D%5741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS2	rs9929724	0.725839	0	0	1	0	0	intronic	UTR3	intronic	BBS2	BBS2(uc010ccg.2:c.*958T>G)	ENSG00000125124	Na	Na	Na	Na	Na	Na	Het;A>C	76;4|3	Hom;A>C	181;0|5
N	N	-	16	5661406	5661406	C	G	snp	ncRNA_intronic	 	 	 	 	LINC01570																		rs11649599	0.545727	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01570	BC108660(dist=12266),RBFOX1(dist=407726)	ENSG00000260338,ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;C>G	400;30|19	Hom;C>G	1560;0|53
N	N	-	16	5666130	5666130	G	C	snp	ncRNA_exonic	 	 	 	 	LINC01570																		rs10221106	0.583267	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01570	BC108660(dist=16990),RBFOX1(dist=403002)	ENSG00000260338	Na	Na	Na	Na	Na	Na	Het;G>C	742;44|36	Hom;G>C	2880;0|104
N	N	-	16	5666299	5666299	G	A	snp	upstream	 	 	 	 	LINC01570																		rs35649425	0.672125	0	0	1	0	0	upstream	intergenic	ncRNA_intronic	LINC01570	BC108660(dist=17159),RBFOX1(dist=402833)	ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;G>A	470;20|23	Hom;G>A	1484;0|51
N	N	-	16	5666327	5666327	G	C	snp	upstream	 	 	 	 	LINC01570																		rs34163817	0.584465	0	0	1	0	0	upstream	intergenic	ncRNA_intronic	LINC01570	BC108660(dist=17187),RBFOX1(dist=402805)	ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;G>C	376;9|18	Hom;G>C	992;0|34
N	N	-	16	56716323	56716323	G	T	snp	upstream	 	 	 	 	MT1X	 	ENSG00000187193	metallothionein 1X	chr16:56716336-56718108		hepatocellular carcinoma; Tunica Media	Mice homozygous for a null allele exhibit abnormal zinc absorption and abnormal circadian rhythm response to melatonin.  Mice homozygous for null alleles of Mt1 and Mt2 exhibit increased sensitivity to xenobiotics and injury with decreased wound healing and abnormal mineral aborption.	Metallothioneins bind metals	GO:0010038;response to metal ion;TAS|GO:0036018;cellular response to erythropoietin;IEP|GO:0045926;negative regulation of growth;ISS|GO:0071276;cellular response to cadmium ion;IEP|GO:0071294;cellular response to zinc ion;IEP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0046872;metal ion binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MT1X			https://www.ncbi.nlm.nih.gov/omim/?term=156359	http://www.informatics.jax.org/searchtool/Search.do?query=MT1X&submit=Quick%0D%15800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MT1X	rs12921022	0.0521166	0	0	1	0	0	upstream	upstream	upstream	MT1X	MT1X	ENSG00000187193,ENSG00000259827	Na	Na	Na	Na	Na	Na	Het;G>T	83;6|4	Hom;G>T	308;0|11
N	N	-	16	56863027	56863027	G	A	snp	intronic	 	 	 	 	NUP93	Nup93	ENSG00000102900	nucleoporin 93	chr16:56764017-56878797		Body Mass Index; HDL cholesterol; Body Weight	 	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006998;nuclear envelope organization;IDA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0072001;renal system development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0090521;glomerular visceral epithelial cell migration;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NUP93	https://www.uniprot.org/uniprot/Q8N1F7	https://hpo.jax.org/app/browse/search?q=NUP93&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614351	http://www.informatics.jax.org/searchtool/Search.do?query=NUP93&submit=Quick%0D%2929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP93	rs3816116	0.0341454	0.0072	0.0270	1	0	0	intronic	intronic	intronic	NUP93	NUP93	ENSG00000102900	Na	Na	Na	Na	Na	Na	Het;G>A	142;21|9	Hom;G>A	1266;1|45
N	N	-	16	56864398	56864398	C	T	snp	intronic	 	 	 	 	NUP93	Nup93	ENSG00000102900	nucleoporin 93	chr16:56764017-56878797		Body Mass Index; HDL cholesterol; Body Weight	 	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006998;nuclear envelope organization;IDA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0072001;renal system development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0090521;glomerular visceral epithelial cell migration;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NUP93	https://www.uniprot.org/uniprot/Q8N1F7	https://hpo.jax.org/app/browse/search?q=NUP93&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614351	http://www.informatics.jax.org/searchtool/Search.do?query=NUP93&submit=Quick%0D%2929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP93	rs1561140	0.684105	0.5902	0.5826	1	0	0	intronic	intronic	intronic	NUP93	NUP93	ENSG00000102900	Na	Na	Na	Na	Na	Na	Het;C>T	318;33|18	Hom;C>T	1973;0|68
N	N	-	16	56864618	56864618	C	T	snp	intronic	 	 	 	 	NUP93	Nup93	ENSG00000102900	nucleoporin 93	chr16:56764017-56878797		Body Mass Index; HDL cholesterol; Body Weight	 	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006998;nuclear envelope organization;IDA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0072001;renal system development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0090521;glomerular visceral epithelial cell migration;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NUP93	https://www.uniprot.org/uniprot/Q8N1F7	https://hpo.jax.org/app/browse/search?q=NUP93&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614351	http://www.informatics.jax.org/searchtool/Search.do?query=NUP93&submit=Quick%0D%2929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP93	rs4461062	0.547524	0.4758	0.4807	1	0	0	intronic	intronic	intronic	NUP93	NUP93	ENSG00000102900	Na	Na	Na	Na	Na	Na	Het;C>T	474;38|26	Hom;C>T	1327;1|48
N	N	-	16	56868700	56868700	A	G	snp	intronic	 	 	 	 	NUP93	Nup93	ENSG00000102900	nucleoporin 93	chr16:56764017-56878797		Body Mass Index; HDL cholesterol; Body Weight	 	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006998;nuclear envelope organization;IDA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0072001;renal system development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0090521;glomerular visceral epithelial cell migration;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NUP93	https://www.uniprot.org/uniprot/Q8N1F7	https://hpo.jax.org/app/browse/search?q=NUP93&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614351	http://www.informatics.jax.org/searchtool/Search.do?query=NUP93&submit=Quick%0D%2929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP93	rs1347591	0.541733	0.4722	0.4775	1	0	0	intronic	intronic	intronic	NUP93	NUP93	ENSG00000102900	Na	Na	Na	Na	Na	Na	Het;A>G	1340;78|68	Hom;A>G	2983;1|114
N	N	-	16	56871469	56871481	TTTTATTGATTAC	T	indel	intronic	 	 	 	 	NUP93	Nup93	ENSG00000102900	nucleoporin 93	chr16:56764017-56878797		Body Mass Index; HDL cholesterol; Body Weight	 	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006998;nuclear envelope organization;IDA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0072001;renal system development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0090521;glomerular visceral epithelial cell migration;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NUP93	https://www.uniprot.org/uniprot/Q8N1F7	https://hpo.jax.org/app/browse/search?q=NUP93&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614351	http://www.informatics.jax.org/searchtool/Search.do?query=NUP93&submit=Quick%0D%2929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP93	rs145442551	0.149361	0.1265	0.1239	1	0	0	intronic	intronic	intronic	NUP93	NUP93	ENSG00000102900	Na	Na	Na	Na	Na	Na	Het;-TTTATTGATTAC	578;33|17	Hom;-TTTATTGATTAC	1855;0|42
N	N	-	16	56872722	56872722	C	T	snp	intronic	 	 	 	 	NUP93	Nup93	ENSG00000102900	nucleoporin 93	chr16:56764017-56878797		Body Mass Index; HDL cholesterol; Body Weight	 	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006998;nuclear envelope organization;IDA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0072001;renal system development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0090521;glomerular visceral epithelial cell migration;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA	GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP	http://www.genecards.org/index.php?path=/Search/keyword/NUP93	https://www.uniprot.org/uniprot/Q8N1F7	https://hpo.jax.org/app/browse/search?q=NUP93&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614351	http://www.informatics.jax.org/searchtool/Search.do?query=NUP93&submit=Quick%0D%2929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP93	rs3764265	0.148163	0	0	1	0	0	intronic	intronic	intronic	NUP93	NUP93	ENSG00000102900	Na	Na	Na	Na	Na	Na	Het;C>T	60;4|3	Hom;C>T	547;0|16
N	N	-	16	56899540	56899540	G	A	snp	intronic	 	 	 	 	SLC12A3	Slc12a3	ENSG00000070915	solute carrier family 12 member 3	chr16:56899119-56949762	This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Gitelman Syndrome|Hypertension; Gitelman's syndrome; Hypertension; nephropathy, diabetic; HDL cholesterol; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; hypertension; diuresis; Gitelman Syndrome; Tobacco Use Disorder; Type 2 diabetes; nephropathy in other diseases; Type 2 Diabetes| edema | rosiglitazone; polygenic hypertension	Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption.	Cation-coupled Chloride cotransporters	GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0035725;sodium ion transmembrane transport;ISS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;ISS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015378;sodium:chloride symporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A3	https://www.uniprot.org/uniprot/P55017	https://hpo.jax.org/app/browse/search?q=SLC12A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600968	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A3&submit=Quick%0D%1381ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A3	rs2304478	0.0341454	0	0	1	0	0	intronic	intronic	intronic	SLC12A3	SLC12A3	ENSG00000070915	Na	Na	Na	Na	Na	Na	Het;G>A	63;12|4	Hom;G>A	287;0|9
N	N	-	16	56917953	56917953	T	C	snp	intronic	 	 	 	 	SLC12A3	Slc12a3	ENSG00000070915	solute carrier family 12 member 3	chr16:56899119-56949762	This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Gitelman Syndrome|Hypertension; Gitelman's syndrome; Hypertension; nephropathy, diabetic; HDL cholesterol; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; hypertension; diuresis; Gitelman Syndrome; Tobacco Use Disorder; Type 2 diabetes; nephropathy in other diseases; Type 2 Diabetes| edema | rosiglitazone; polygenic hypertension	Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption.	Cation-coupled Chloride cotransporters	GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0035725;sodium ion transmembrane transport;ISS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;ISS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015378;sodium:chloride symporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A3	https://www.uniprot.org/uniprot/P55017	https://hpo.jax.org/app/browse/search?q=SLC12A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600968	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A3&submit=Quick%0D%1381ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A3	rs2304483	0.570687	0.4749	0.4590	1	0	0	intronic	intronic	intronic	SLC12A3	SLC12A3	ENSG00000070915	Na	Na	Na	Na	Na	Na	Het;T>C	776;35|34	Hom;T>C	1421;0|52
N	N	-	16	56926793	56926793	C	T	snp	intronic	 	 	 	 	SLC12A3	Slc12a3	ENSG00000070915	solute carrier family 12 member 3	chr16:56899119-56949762	This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Gitelman Syndrome|Hypertension; Gitelman's syndrome; Hypertension; nephropathy, diabetic; HDL cholesterol; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; hypertension; diuresis; Gitelman Syndrome; Tobacco Use Disorder; Type 2 diabetes; nephropathy in other diseases; Type 2 Diabetes| edema | rosiglitazone; polygenic hypertension	Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption.	Cation-coupled Chloride cotransporters	GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0035725;sodium ion transmembrane transport;ISS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;ISS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015378;sodium:chloride symporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A3	https://www.uniprot.org/uniprot/P55017	https://hpo.jax.org/app/browse/search?q=SLC12A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600968	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A3&submit=Quick%0D%1381ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A3	rs2278490	0.303115	0	0	1	0	0	intronic	intronic	intronic	SLC12A3	SLC12A3	ENSG00000070915	Na	Na	Na	Na	Na	Na	Het;C>T	339;9|15	Hom;C>T	1024;0|34
N	N	-	16	56926828	56926828	T	C	snp	intronic	 	 	 	 	SLC12A3	Slc12a3	ENSG00000070915	solute carrier family 12 member 3	chr16:56899119-56949762	This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Gitelman Syndrome|Hypertension; Gitelman's syndrome; Hypertension; nephropathy, diabetic; HDL cholesterol; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; hypertension; diuresis; Gitelman Syndrome; Tobacco Use Disorder; Type 2 diabetes; nephropathy in other diseases; Type 2 Diabetes| edema | rosiglitazone; polygenic hypertension	Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption.	Cation-coupled Chloride cotransporters	GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0035725;sodium ion transmembrane transport;ISS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;ISS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015378;sodium:chloride symporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A3	https://www.uniprot.org/uniprot/P55017	https://hpo.jax.org/app/browse/search?q=SLC12A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600968	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A3&submit=Quick%0D%1381ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A3	rs2278489	0.604633	0.6984	0.5720	1	0	0	intronic	intronic	intronic	SLC12A3	SLC12A3	ENSG00000070915	Na	Na	Na	Na	Na	Na	Het;T>C	609;17|27	Hom;T>C	1959;0|65
N	N	-	16	57713250	57713250	C	T	snp	intronic	 	 	 	 	ADGRG3	Adgrg3																	rs4238795	0.591254	0.5264	0.4931	1	0	0	intronic	intronic	intronic	ADGRG3	GPR97	ENSG00000182885	Na	Na	Na	Na	Na	Na	Het;C>T	1443;62|66	Hom;C>T	2830;2|107
N	N	-	16	57778488	57778488	A	G	snp	intronic	 	 	 	 	KATNB1	Katnb1	ENSG00000140854	katanin regulatory subunit B1	chr16:57769642-57791162	Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]	breast cancer; Basophils	Nullizygous mice exhibit embryonic lethality, small embryo, brain and limb bud size, variable eye defects, holoprosencephaly, and thin cerebral cortex with fewer cortical progenitors and post-mitotic neurons. Mutant MEFs form multiple centrioles, multipolar spindles, and supernumerary primary cilia.		GO:0006605;protein targeting;NAS|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0031117;positive regulation of microtubule depolymerization;IMP|GO:0051013;microtubule severing;IEA|GO:0051301;cell division;IEA|GO:0006605;protein targeting;NAS|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0031117;positive regulation of microtubule depolymerization;IMP|GO:0051013;microtubule severing;IEA|GO:0051301;cell division;IEA	GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0008352;katanin complex;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IEA|GO:0043025;neuronal cell body;IEA	GO:0008017;microtubule binding;NAS|GO:0008568;microtubule-severing ATPase activity;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KATNB1	https://www.uniprot.org/uniprot/Q9BVA0	https://hpo.jax.org/app/browse/search?q=KATNB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602703	http://www.informatics.jax.org/searchtool/Search.do?query=KATNB1&submit=Quick%0D%22ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KATNB1	rs2967152	0.716454	0	0	1	0	0	intronic	intronic	intronic	KATNB1	KATNB1	ENSG00000140854	Na	Na	Na	Na	Na	Na	Het;A>G	594;50|28	Hom;A>G	1213;0|39
N	N	-	16	57786517	57786517	C	T	snp	intronic	 	 	 	 	KATNB1	Katnb1	ENSG00000140854	katanin regulatory subunit B1	chr16:57769642-57791162	Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]	breast cancer; Basophils	Nullizygous mice exhibit embryonic lethality, small embryo, brain and limb bud size, variable eye defects, holoprosencephaly, and thin cerebral cortex with fewer cortical progenitors and post-mitotic neurons. Mutant MEFs form multiple centrioles, multipolar spindles, and supernumerary primary cilia.		GO:0006605;protein targeting;NAS|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0031117;positive regulation of microtubule depolymerization;IMP|GO:0051013;microtubule severing;IEA|GO:0051301;cell division;IEA|GO:0006605;protein targeting;NAS|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0031117;positive regulation of microtubule depolymerization;IMP|GO:0051013;microtubule severing;IEA|GO:0051301;cell division;IEA	GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0008352;katanin complex;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IEA|GO:0043025;neuronal cell body;IEA	GO:0008017;microtubule binding;NAS|GO:0008568;microtubule-severing ATPase activity;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KATNB1	https://www.uniprot.org/uniprot/Q9BVA0	https://hpo.jax.org/app/browse/search?q=KATNB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602703	http://www.informatics.jax.org/searchtool/Search.do?query=KATNB1&submit=Quick%0D%22ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KATNB1	rs2965797	0.410543	0.5598	0.6078	1	0	0	intronic	intronic	intronic	KATNB1	KATNB1	ENSG00000140854	Na	Na	Na	Na	Na	Na	Het;C>T	967;64|49	Hom;C>T	1833;2|71
N	N	-	16	57786711	57786711	C	T	snp	synonymous SNV	C726T	D242D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	KATNB1	Katnb1	ENSG00000140854	katanin regulatory subunit B1	chr16:57769642-57791162	Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]	breast cancer; Basophils	Nullizygous mice exhibit embryonic lethality, small embryo, brain and limb bud size, variable eye defects, holoprosencephaly, and thin cerebral cortex with fewer cortical progenitors and post-mitotic neurons. Mutant MEFs form multiple centrioles, multipolar spindles, and supernumerary primary cilia.		GO:0006605;protein targeting;NAS|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0031117;positive regulation of microtubule depolymerization;IMP|GO:0051013;microtubule severing;IEA|GO:0051301;cell division;IEA|GO:0006605;protein targeting;NAS|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0031117;positive regulation of microtubule depolymerization;IMP|GO:0051013;microtubule severing;IEA|GO:0051301;cell division;IEA	GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0008352;katanin complex;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IEA|GO:0043025;neuronal cell body;IEA	GO:0008017;microtubule binding;NAS|GO:0008568;microtubule-severing ATPase activity;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KATNB1	https://www.uniprot.org/uniprot/Q9BVA0	https://hpo.jax.org/app/browse/search?q=KATNB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602703	http://www.informatics.jax.org/searchtool/Search.do?query=KATNB1&submit=Quick%0D%22ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KATNB1	rs2965798	0.439896	0.5488	0.6001	1	0	0	exonic	exonic	exonic	KATNB1	KATNB1	ENSG00000140854	synonymous SNV	synonymous SNV	unknown	KATNB1:NM_005886:exon10:c.C726T:p.D242D,	KATNB1:uc002eml.1:exon10:c.C726T:p.D242D,	UNKNOWN	Het;C>T	1622;68|80	Hom;C>T	3233;0|126
N	N	-	16	57794888	57794888	A	T	snp	intronic	 	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs2965799	0.531949	0.6332	0.6821	1	0	0	intronic	intronic	intronic	KIFC3	KIFC3	ENSG00000140859	Na	Na	Na	Na	Na	Na	Het;A>T	1470;61|66	Hom;A>T	2576;2|97
N	N	-	16	57795394	57795394	G	A	snp	synonymous SNV	C1497T	D499D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs2967172	0.450479	0.5529	0.6063	1	0	0	exonic	exonic	exonic	KIFC3	KIFC3	ENSG00000140859	synonymous SNV	synonymous SNV	unknown	KIFC3:NM_001130100:exon14:c.C1803T:p.D601D,KIFC3:NM_001130099:exon13:c.C1386T:p.D462D,KIFC3:NM_005550:exon14:c.C1803T:p.D601D,	KIFC3:uc010vhw.2:exon12:c.C1497T:p.D499D,KIFC3:uc002emp.3:exon14:c.C1803T:p.D601D,KIFC3:uc010vhx.2:exon12:c.C1377T:p.D459D,KIFC3:uc002emo.4:exon14:c.C1386T:p.D462D,KIFC3:uc010vhz.2:exon14:c.C1869T:p.D623D,KIFC3:uc010cdf.3:exon13:c.C1386T:p.D462D,KIFC3:uc010vhy.2:exon14:c.C1629T:p.D543D,KIFC3:uc002emm.3:exon15:c.C1386T:p.D462D,KIFC3:uc002emq.3:exon14:c.C1803T:p.D601D,KIFC3:uc002emr.1:exon10:c.C1134T:p.D378D,	UNKNOWN	Het;G>A	899;47|42	Hom;G>A	2530;0|98
N	N	-	16	57797913	57797913	C	T	snp	intronic	 	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs11649013	0.445687	0	0	1	0	0	intronic	intronic	intronic	KIFC3	KIFC3	ENSG00000140859	Na	Na	Na	Na	Na	Na	Het;C>T	228;6|9	Hom;C>T	562;0|18
N	N	-	16	57803911	57803911	A	G	snp	intronic	 	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs3803590	0.665136	0.7482	0.7747	1	0	0	intronic	intronic	intronic	KIFC3	KIFC3	ENSG00000140859	Na	Na	Na	Na	Na	Na	Het;A>G	836;27|39	Hom;A>G	1686;1|60
N	N	-	16	57805048	57805048	A	G	snp	intronic	 	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs2967166	0.636382	0	0	1	0	0	intronic	intronic	intronic	KIFC3	KIFC3	ENSG00000140859	Na	Na	Na	Na	Na	Na	Het;A>G	142;13|8	Hom;A>G	435;0|16
N	N	-	16	57805078	57805078	C	T	snp	intronic	 	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs2965790	0.448882	0.5551	0.6087	1	0	0	intronic	intronic	intronic	KIFC3	KIFC3	ENSG00000140859	Na	Na	Na	Na	Na	Na	Het;C>T	198;21|11	Hom;C>T	889;0|34
N	N	-	16	57805176	57805176	A	G	snp	synonymous SNV	T393C	L131L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs2967165	0.665136	0.7483	0.7752	1	0	0	exonic	exonic	exonic	KIFC3	KIFC3	ENSG00000140859	synonymous SNV	synonymous SNV	unknown	KIFC3:NM_001130100:exon6:c.T699C:p.L233L,KIFC3:NM_001130099:exon5:c.T282C:p.L94L,KIFC3:NM_005550:exon6:c.T699C:p.L233L,	KIFC3:uc010vhw.2:exon4:c.T393C:p.L131L,KIFC3:uc002emp.3:exon6:c.T699C:p.L233L,KIFC3:uc010vhx.2:exon4:c.T282C:p.L94L,KIFC3:uc002emo.4:exon6:c.T282C:p.L94L,KIFC3:uc010vhz.2:exon6:c.T765C:p.L255L,KIFC3:uc010cdf.3:exon5:c.T282C:p.L94L,KIFC3:uc010vhy.2:exon6:c.T525C:p.L175L,KIFC3:uc002emm.3:exon7:c.T282C:p.L94L,KIFC3:uc002emq.3:exon6:c.T699C:p.L233L,	UNKNOWN	Het;A>G	1243;59|54	Hom;A>G	2811;0|98
N	N	-	16	57806030	57806030	A	G	snp	intronic	 	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs2965789	0.687101	0	0	1	0	0	intronic	intronic	intronic	KIFC3	KIFC3	ENSG00000140859	Na	Na	Na	Na	Na	Na	Het;A>G	174;2|8	Hom;A>G	542;0|17
N	N	-	16	57815870	57815870	G	A	snp	UTR5	-10308C>T	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs12933672	0.582668	0	0	1	0	0	intronic	UTR5	UTR5	KIFC3	KIFC3(uc002emm.3:c.-10308C>T,uc010vhx.2:c.-10308C>T)	ENSG00000140859(ENST00000543930:c.-10308C>T,ENST00000562903:c.-10308C>T,ENST00000564136:c.-10308C>T,ENST00000569619:c.-10308C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1480;54|68	Hom;G>A	2934;0|102
N	N	-	16	57816109	57816109	C	A	snp	UTR5	-10547G>T	 	 	 	KIFC3	Kifc3	ENSG00000140859	kinesin family member C3	chr16:57792129-57896957	This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Metabolism	Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates.	Association of TriC/CCT with target proteins during biosynthesis	GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007030;Golgi organization;IEA|GO:0007601;visual perception;TAS|GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIFC3	https://www.uniprot.org/uniprot/Q9BVG8		https://www.ncbi.nlm.nih.gov/omim/?term=604535	http://www.informatics.jax.org/searchtool/Search.do?query=KIFC3&submit=Quick%0D%8085ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFC3	rs12935285	0.455871	0	0	1	0	0	intronic	UTR5	UTR5	KIFC3	KIFC3(uc002emm.3:c.-10547G>T,uc010vhx.2:c.-10547G>T)	ENSG00000140859(ENST00000543930:c.-10547G>T,ENST00000562903:c.-10547G>T,ENST00000564136:c.-10547G>T,ENST00000569619:c.-10547G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	2105;94|98	Hom;C>A	4301;0|156
N	N	-	16	57917232	57917232	G	A	snp	UTR3	*836C>T	 	 	 	CNGB1		ENSG00000070729	cyclic nucleotide gated channel beta 1	chr16:57917503-58005020	In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]	E-Selectin; Alcoholism; Retinitis Pigmentosa; Forced Expiratory Volume; Retinal Diseases	Homozygous null mice display postnatal lethality, reduced body size and weight, and retinal rod degeneration followed by cone degeneration.  Mice homozygous for an allele lacking the calmodulin-binding domain exhibit defective olfactory neural signaling.	VxPx cargo-targeting to cilium	GO:0001895;retina homeostasis;IMP|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0007601;visual perception;TAS|GO:0007602;phototransduction;IEA|GO:0007608;sensory perception of smell;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0033365;protein localization to organelle;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0051290;protein heterotetramerization;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0001750;photoreceptor outer segment;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017071;intracellular cyclic nucleotide activated cation channel complex;IEA|GO:0030660;Golgi-associated vesicle membrane;TAS|GO:0043195;terminal bouton;IEA|GO:0060170;ciliary membrane;TAS|GO:1902495;transmembrane transporter complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0005221;intracellular cyclic nucleotide activated cation channel activity;IEA|GO:0005222;intracellular cAMP activated cation channel activity;IEA|GO:0005223;intracellular cGMP activated cation channel activity;IDA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;TAS|GO:0030552;cAMP binding;IEA|GO:0030553;cGMP binding;IDA|GO:0043855;cyclic nucleotide-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNGB1	https://www.uniprot.org/uniprot/Q14028	https://hpo.jax.org/app/browse/search?q=CNGB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600724	http://www.informatics.jax.org/searchtool/Search.do?query=CNGB1&submit=Quick%0D%1368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNGB1	rs165999	0.260184	0	0	1	0	0	UTR3	UTR3	downstream	CNGB1(NM_001286130:c.*836C>T,NM_001297:c.*836C>T)	CNGB1(uc002emt.2:c.*836C>T,uc010cdh.2:c.*836C>T)	ENSG00000070729	Na	Na	Na	Na	Na	Na	Het;G>A	656;19|28	Hom;G>A	1644;0|55
N	N	-	16	58468579	58468579	C	T	snp	ncRNA_intronic	 	 	 	 	LINC02137																		rs12932284	0.647564	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	GINS3(dist=28531),NDRG4(dist=28970)	GINS3(dist=28531),NDRG4(dist=28970)	ENSG00000260186	Na	Na	Na	Na	Na	Na	Het;C>T	315;26|18	Hom;C>T	1203;0|48
N	N	-	16	58468702	58468705	ATCC	A	indel	ncRNA_intronic	 	 	 	 	LINC02137																		rs55928734	0.555911	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	GINS3(dist=28654),NDRG4(dist=28844)	GINS3(dist=28654),NDRG4(dist=28844)	ENSG00000260186	Na	Na	Na	Na	Na	Na	Het;-TCC	128;1|4	Hom;-TCC	143;0|4
N	N	-	16	58528812	58528812	G	A	snp	intronic	 	 	 	 	NDRG4	Ndrg4	ENSG00000103034	NDRG family member 4	chr16:58496750-58547532	This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]	QT interval; Tobacco Use Disorder; Arrhythmias, Cardiac|Death, Sudden, Cardiac|	Mice homozygous for a knock-out allele exhibit spatial learning deficits and increased susceptibility to ischemic brain injury.		GO:0001947;heart looping;ISS|GO:0006950;response to stress;NAS|GO:0008542;visual learning;IEA|GO:0010642;negative regulation of platelet-derived growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0014912;negative regulation of smooth muscle cell migration;IDA|GO:0016049;cell growth;NAS|GO:0030154;cell differentiation;NAS|GO:0035050;embryonic heart tube development;ISS|GO:0048278;vesicle docking;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0060038;cardiac muscle cell proliferation;ISS|GO:0060973;cell migration involved in heart development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:2001135;regulation of endocytic recycling;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;ISS|GO:0005789;endoplasmic reticulum membrane;ISS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031253;cell projection membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NDRG4	https://www.uniprot.org/uniprot/Q9ULP0		https://www.ncbi.nlm.nih.gov/omim/?term=614463	http://www.informatics.jax.org/searchtool/Search.do?query=NDRG4&submit=Quick%0D%2953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDRG4	rs34720527	0.145767	0.1654	0	1	0	0	intronic	intronic	intronic	NDRG4	NDRG4	ENSG00000103034	Na	Na	Na	Na	Na	Na	Het;G>A	531;17|24	Hom;G>A	810;0|30
N	N	-	16	58544640	58544640	C	G	snp	intronic	 	 	 	 	NDRG4	Ndrg4	ENSG00000103034	NDRG family member 4	chr16:58496750-58547532	This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]	QT interval; Tobacco Use Disorder; Arrhythmias, Cardiac|Death, Sudden, Cardiac|	Mice homozygous for a knock-out allele exhibit spatial learning deficits and increased susceptibility to ischemic brain injury.		GO:0001947;heart looping;ISS|GO:0006950;response to stress;NAS|GO:0008542;visual learning;IEA|GO:0010642;negative regulation of platelet-derived growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0014912;negative regulation of smooth muscle cell migration;IDA|GO:0016049;cell growth;NAS|GO:0030154;cell differentiation;NAS|GO:0035050;embryonic heart tube development;ISS|GO:0048278;vesicle docking;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0060038;cardiac muscle cell proliferation;ISS|GO:0060973;cell migration involved in heart development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:2001135;regulation of endocytic recycling;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;ISS|GO:0005789;endoplasmic reticulum membrane;ISS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031253;cell projection membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NDRG4	https://www.uniprot.org/uniprot/Q9ULP0		https://www.ncbi.nlm.nih.gov/omim/?term=614463	http://www.informatics.jax.org/searchtool/Search.do?query=NDRG4&submit=Quick%0D%2953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDRG4	rs12597973	0.595248	0	0	1	0	0	intronic	intronic	intronic	NDRG4	NDRG4	ENSG00000103034	Na	Na	Na	Na	Na	Na	Het;C>G	1462;43|66	Hom;C>G	2889;0|108
N	N	-	16	59200735	59200735	G	A	snp	downstream	 	 	 	 	AC092121.1																		rs11648712	0.391973	0	0	1	0	0	intergenic	intergenic	downstream	GOT2(dist=432474),APOOP5(dist=587310)	AK057513(dist=57857),LOC644649(dist=587310)	ENSG00000261144	Na	Na	Na	Na	Na	Na	Het;G>A	351;4|15	Hom;G>A	602;0|22
N	N	-	16	60082005	60082005	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927580																		rs36539	0.598243	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927580	LOC644649(dist=292910),CDH8(dist=1603910)	ENSG00000261807	Na	Na	Na	Na	Na	Na	Het;T>C	236;7|7	Hom;T>C	511;0|15
N	N	-	16	60087005	60087005	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927580																		rs36545	0.809904	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927580	LOC644649(dist=297910),CDH8(dist=1598910)	ENSG00000261807	Na	Na	Na	Na	Na	Na	Het;C>T	1899;87|90	Hom;C>T	4754;0|166
N	N	-	16	60393058	60393058	C	T	snp	synonymous SNV	G549A	A183A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC729159																		rs113942357	0.260583	0	0	1	0	0	exonic	intergenic	upstream	LOC729159	LOC644649(dist=603963),CDH8(dist=1292857)	ENSG00000261436	synonymous SNV	Na	Na	LOC729159:NM_001282301:exon1:c.G549A:p.A183A,	Na	Na	Het;C>T	563;75|29	Hom;C>T	1896;2|68
N	N	-	16	60483381	60483381	A	AACACATACACATACACAT	indel	intergenic	 	 	 	 	AC018554.1																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC729159(dist=89714),MIR4426(dist=606230)	LOC644649(dist=694286),CDH8(dist=1202534)	ENSG00000261436(dist=7232),ENSG00000261310(dist=37342)	Na	Na	Na	Na	Na	Na	Het;+ACACATACACATACACAT	46;12|5	Hom;+ACACATACACATACACAT	890;0|19
N	N	-	16	60693819	60693819	A	G	snp	intergenic	 	 	 	 	AC018555.1																		rs1423883	0.268171	0	0	1	0	0	intergenic	intergenic	intergenic	LOC729159(dist=300152),MIR4426(dist=395792)	LOC644649(dist=904724),CDH8(dist=992096)	ENSG00000259844(dist=3266),ENSG00000265127(dist=110064)	Na	Na	Na	Na	Na	Na	Het;A>G	115;2|4	Hom;A>G	256;0|7
N	N	-	16	61543706	61543706	G	A	snp	intergenic	 	 	 	 	RPS27AP16																		rs17248695	0.603634	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4426(dist=454036),CDH8(dist=142209)	LOC644649(dist=1754611),CDH8(dist=142209)	ENSG00000224631(dist=453838),ENSG00000150394(dist=137440)	Na	Na	Na	Na	Na	Na	Het;G>A	239;11|12	Hom;G>A	498;0|20
N	N	-	16	61593586	61593586	A	G	snp	intergenic	 	 	 	 	RPS27AP16																		rs17248772	0.152556	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4426(dist=503916),CDH8(dist=92329)	LOC644649(dist=1804491),CDH8(dist=92329)	ENSG00000224631(dist=503718),ENSG00000150394(dist=87560)	Na	Na	Na	Na	Na	Na	Het;A>G	124;6|7	Hom;A>G	527;0|19
N	N	-	16	61593731	61593731	A	G	snp	intergenic	 	 	 	 	RPS27AP16																		rs11860283	0.288139	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4426(dist=504061),CDH8(dist=92184)	LOC644649(dist=1804636),CDH8(dist=92184)	ENSG00000224631(dist=503863),ENSG00000150394(dist=87415)	Na	Na	Na	Na	Na	Na	Het;A>G	138;1|7	Hom;A>G	295;0|11
N	N	-	16	64655286	64655287	AT	A	indel	intergenic	 	 	 	 	AC092131.1																		rs35033921	0.648962	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),CDH11(dist=325396)	NONE(dist=NONE),CDH11(dist=325396)	ENSG00000259846(dist=21136),ENSG00000259859(dist=114541)	Na	Na	Na	Na	Na	Na	Het;-T	350;38|22	Hom;-T	1080;3|45
N	N	-	16	66759976	66759976	C	T	snp	ncRNA_intronic	 	 	 	 	AC018557.1																		rs2305310	0.547324	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DYNC1LI2	DYNC1LI2	ENSG00000260465	Na	Na	Na	Na	Na	Na	Het;C>T	62;3|3	Hom;C>T	186;0|6
N	N	-	16	677854	677854	G	T	snp	UTR3	*232G>T	 	 	 	RAB40C	Rab40c	ENSG00000197562	RAB40C, member RAS oncogene family	chr16:639357-679272		height; Heart Rate; Body Height	 	RAB geranylgeranylation	GO:0006904;vesicle docking involved in exocytosis;IBA|GO:0009306;protein secretion;IBA|GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0072659;protein localization to plasma membrane;IBA	GO:0005622;intracellular;IEA|GO:0005768;endosome;IBA|GO:0005886;plasma membrane;IEA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAB40C				http://www.informatics.jax.org/searchtool/Search.do?query=RAB40C&submit=Quick%0D%16657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB40C	rs15564	0.539736	0	0	1	0	0	UTR3	UTR3	UTR3	RAB40C(NM_001172663:c.*232G>T,NM_001172664:c.*232G>T,NM_001172665:c.*232G>T,NM_001172666:c.*232G>T,NM_021168:c.*232G>T)	RAB40C(uc021szt.1:c.*232G>T,uc021szu.1:c.*232G>T,uc021szv.1:c.*232G>T,uc002chq.3:c.*232G>T,uc002chr.3:c.*232G>T)	ENSG00000197562(ENST00000535977:c.*232G>T,ENST00000539661:c.*232G>T,ENST00000538492:c.*232G>T,ENST00000248139:c.*232G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	322;32|19	Hom;G>T	1666;0|63
N	N	-	16	6804457	6804457	T	G	snp	ncRNA_intronic	 	 	 	 	AC074051.2																		rs4786928	0.26897	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RBFOX1	RBFOX1	ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;T>G	154;4|5	Hom;T>G	172;0|6
N	N	-	16	6804751	6804751	A	G	snp	ncRNA_intronic	 	 	 	 	AC074051.2																		rs11077078	0.26877	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RBFOX1	RBFOX1	ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;A>G	942;37|39	Hom;A>G	1807;0|64
N	N	-	16	6804862	6804862	C	G	snp	ncRNA_intronic	 	 	 	 	AC074051.2																		rs11864470	0.267971	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RBFOX1	RBFOX1	ENSG00000260411	Na	Na	Na	Na	Na	Na	Het;C>G	146;5|5	Hom;C>G	271;0|8
N	N	-	16	681284	681284	C	T	snp	synonymous SNV	C31T	L11L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	WFIKKN1	Wfikkn1	ENSG00000127578	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	chr16:679239-684116	This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]		Mice homozygous for a null mutation show partial penetrance of posteriorly directed homeotic transformations throughout the axial skeleton, impaired muscle regeneration and a mild decrease in skeletal muscle weight in males.		GO:0001501;skeletal system development;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0043392;negative regulation of DNA binding;IEA|GO:0048747;muscle fiber development;IEA|GO:0060021;palate development;IEA	GO:0005576;extracellular region;IEA	GO:0004857;enzyme inhibitor activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WFIKKN1	https://www.uniprot.org/uniprot/Q96NZ8		https://www.ncbi.nlm.nih.gov/omim/?term=608021	http://www.informatics.jax.org/searchtool/Search.do?query=WFIKKN1&submit=Quick%0D%6055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFIKKN1	rs8062289	0.218251	0.2390	0.2212	1	0	0	exonic	exonic	exonic	WFIKKN1	WFIKKN1	ENSG00000127578	synonymous SNV	synonymous SNV	unknown	WFIKKN1:NM_053284:exon1:c.C31T:p.L11L,	WFIKKN1:uc002cht.1:exon1:c.C31T:p.L11L,	UNKNOWN	Het;C>T	296;22|16	Hom;C>T	779;0|29
N	N	-	16	68732049	68732049	A	C	snp	unknown	 	 	 	 	CDH3	Cdh3	ENSG00000062038	cadherin 3	chr16:68670092-68756519	This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]	colorectal cancer; Colitis, Ulcerative|; Diabetes Mellitus	Homozygous mutation of this gene results in precocious development of mammary glands in virgin 10-week old females. Aged virgin females (24 weeks) exhibit alveolar hyperplasia, ductal dysplasia, and extensive lymphocyte infiltration of the mammary glands.	Adherens junctions interactions	GO:0001895;retina homeostasis;IMP|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022405;hair cycle process;IMP|GO:0031424;keratinization;IMP|GO:0032773;positive regulation of monophenol monooxygenase activity;IMP|GO:0032912;negative regulation of transforming growth factor beta2 production;IMP|GO:0034332;adherens junction organization;TAS|GO:0042060;wound healing;IEA|GO:0042493;response to drug;IEA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IMP|GO:0048023;positive regulation of melanin biosynthetic process;IMP|GO:0050896;response to stimulus;IEA|GO:0051796;negative regulation of timing of catagen;IMP|GO:0060070;canonical Wnt signaling pathway;IMP|GO:0060901;regulation of hair cycle by canonical Wnt signaling pathway;IMP|GO:1902910;positive regulation of melanosome transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH3	https://www.uniprot.org/uniprot/P22223	https://hpo.jax.org/app/browse/search?q=CDH3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114021	http://www.informatics.jax.org/searchtool/Search.do?query=CDH3&submit=Quick%0D%1083ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH3	rs3114409	0.228634	0.2320	0.2805	0.11	1	9	intronic	intronic	exonic	CDH3	CDH3	ENSG00000062038	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>C	1086;34|52	Hom;A>C	2229;0|78
N	N	-	16	68732977	68732977	G	A	snp	downstream	 	 	 	 	CDH3	Cdh3	ENSG00000062038	cadherin 3	chr16:68670092-68756519	This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]	colorectal cancer; Colitis, Ulcerative|; Diabetes Mellitus	Homozygous mutation of this gene results in precocious development of mammary glands in virgin 10-week old females. Aged virgin females (24 weeks) exhibit alveolar hyperplasia, ductal dysplasia, and extensive lymphocyte infiltration of the mammary glands.	Adherens junctions interactions	GO:0001895;retina homeostasis;IMP|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022405;hair cycle process;IMP|GO:0031424;keratinization;IMP|GO:0032773;positive regulation of monophenol monooxygenase activity;IMP|GO:0032912;negative regulation of transforming growth factor beta2 production;IMP|GO:0034332;adherens junction organization;TAS|GO:0042060;wound healing;IEA|GO:0042493;response to drug;IEA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IMP|GO:0048023;positive regulation of melanin biosynthetic process;IMP|GO:0050896;response to stimulus;IEA|GO:0051796;negative regulation of timing of catagen;IMP|GO:0060070;canonical Wnt signaling pathway;IMP|GO:0060901;regulation of hair cycle by canonical Wnt signaling pathway;IMP|GO:1902910;positive regulation of melanosome transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH3	https://www.uniprot.org/uniprot/P22223	https://hpo.jax.org/app/browse/search?q=CDH3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114021	http://www.informatics.jax.org/searchtool/Search.do?query=CDH3&submit=Quick%0D%1083ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH3	rs3118235	0.203075	0	0	1	0	0	downstream	downstream	intronic	CDH3	CDH3	ENSG00000062038	Na	Na	Na	Na	Na	Na	Het;G>A	140;6|6	Hom;G>A	135;0|5
N	N	-	16	68771034	68771034	C	A	snp	upstream	 	 	 	 	CDH1	Cdh1	ENSG00000039068	cadherin 1	chr16:68771128-68869451	This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]	urothelial cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Carcinoma|Helicobacter Infections|Stomach Neoplasms; Helicobacter Infections|Stomach Neoplasms; Cleft Lip|Cleft Palate; esophageal cancer; stomach cancer; Carcinoma|Stomach Neoplasms; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; diffuse gastric cancer; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Colorectal Neoplasms; Leiomyoma|Uterine Neoplasms; Neoplasms; breast cancer; gastrointestinal cancer; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; Carcinoma, Renal Cell|Kidney Neoplasms; chronic obstructive pulmonary disease; gastric cancer; Stomach Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; pancreatic neoplasm|Pancreatic Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; prostate cancer; ovarian cancer; glaucoma, primary open-angle; Carcinoma|Ovarian Neoplasms; lung cancer; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; breast cancer; prostate cancer; gastric cancer; ulcerative colitis; lung cancer ; Cleft Lip|Cleft Palate|Tooth Abnormalities; breast cancer ; cervical cancer; Crohn Disease|; Colitis, Ulcerative|; gastric carcinoma risk; urinary calculus; stomach cancer; transitional cell carcinoma of the bladder.; breast carcinomas; bladder cancer; Pancreatic Neoplasms; respiratory syncytial virus bronchiolitis; meningioma; colorectal cancer; hepatitis B, chronic; Nasopharyngeal Neoplasms	In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein.  Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time.	InlA-mediated entry of Listeria monocytogenes into host cells	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;NAS|GO:0007416;synapse assembly;IEA|GO:0009636;response to toxic substance;IEA|GO:0010033;response to organic substance;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0021983;pituitary gland development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IMP|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0031175;neuron projection development;IEA|GO:0034332;adherens junction organization;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0042493;response to drug;IEA|GO:0042993;positive regulation of transcription factor import into nucleus;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0071285;cellular response to lithium ion;IDA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0072659;protein localization to plasma membrane;IDA|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IMP|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0043296;apical junction complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0030506;ankyrin binding;IPI|GO:0032794;GTPase activating protein binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDH1	https://www.uniprot.org/uniprot/P12830	https://hpo.jax.org/app/browse/search?q=CDH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=192090	http://www.informatics.jax.org/searchtool/Search.do?query=CDH1&submit=Quick%0D%806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH1	rs16260	0.235623	0	0	1	0	0	upstream	upstream	upstream	CDH1	CDH1	ENSG00000039068	Na	Na	Na	Na	Na	Na	Het;C>A	859;31|42	Hom;C>A	1622;0|61
N	N	-	16	68803844	68803844	A	G	snp	intronic	 	 	 	 	CDH1	Cdh1	ENSG00000039068	cadherin 1	chr16:68771128-68869451	This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]	urothelial cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Carcinoma|Helicobacter Infections|Stomach Neoplasms; Helicobacter Infections|Stomach Neoplasms; Cleft Lip|Cleft Palate; esophageal cancer; stomach cancer; Carcinoma|Stomach Neoplasms; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; diffuse gastric cancer; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Colorectal Neoplasms; Leiomyoma|Uterine Neoplasms; Neoplasms; breast cancer; gastrointestinal cancer; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; Carcinoma, Renal Cell|Kidney Neoplasms; chronic obstructive pulmonary disease; gastric cancer; Stomach Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; pancreatic neoplasm|Pancreatic Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; prostate cancer; ovarian cancer; glaucoma, primary open-angle; Carcinoma|Ovarian Neoplasms; lung cancer; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; breast cancer; prostate cancer; gastric cancer; ulcerative colitis; lung cancer ; Cleft Lip|Cleft Palate|Tooth Abnormalities; breast cancer ; cervical cancer; Crohn Disease|; Colitis, Ulcerative|; gastric carcinoma risk; urinary calculus; stomach cancer; transitional cell carcinoma of the bladder.; breast carcinomas; bladder cancer; Pancreatic Neoplasms; respiratory syncytial virus bronchiolitis; meningioma; colorectal cancer; hepatitis B, chronic; Nasopharyngeal Neoplasms	In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein.  Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time.	InlA-mediated entry of Listeria monocytogenes into host cells	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;NAS|GO:0007416;synapse assembly;IEA|GO:0009636;response to toxic substance;IEA|GO:0010033;response to organic substance;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0021983;pituitary gland development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IMP|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0031175;neuron projection development;IEA|GO:0034332;adherens junction organization;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0042493;response to drug;IEA|GO:0042993;positive regulation of transcription factor import into nucleus;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0071285;cellular response to lithium ion;IDA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0072659;protein localization to plasma membrane;IDA|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IMP|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0043296;apical junction complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0030506;ankyrin binding;IPI|GO:0032794;GTPase activating protein binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDH1	https://www.uniprot.org/uniprot/P12830	https://hpo.jax.org/app/browse/search?q=CDH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=192090	http://www.informatics.jax.org/searchtool/Search.do?query=CDH1&submit=Quick%0D%806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH1	rs28628339	0.217053	0	0	1	0	0	intronic	intronic	intronic	CDH1	CDH1	ENSG00000039068	Na	Na	Na	Na	Na	Na	Het;A>G	125;11|6	Hom;A>G	395;0|15
N	N	-	16	68804068	68804068	G	A	snp	intronic	 	 	 	 	CDH1	Cdh1	ENSG00000039068	cadherin 1	chr16:68771128-68869451	This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]	urothelial cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Carcinoma|Helicobacter Infections|Stomach Neoplasms; Helicobacter Infections|Stomach Neoplasms; Cleft Lip|Cleft Palate; esophageal cancer; stomach cancer; Carcinoma|Stomach Neoplasms; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; diffuse gastric cancer; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Colorectal Neoplasms; Leiomyoma|Uterine Neoplasms; Neoplasms; breast cancer; gastrointestinal cancer; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; Carcinoma, Renal Cell|Kidney Neoplasms; chronic obstructive pulmonary disease; gastric cancer; Stomach Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; pancreatic neoplasm|Pancreatic Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; prostate cancer; ovarian cancer; glaucoma, primary open-angle; Carcinoma|Ovarian Neoplasms; lung cancer; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; breast cancer; prostate cancer; gastric cancer; ulcerative colitis; lung cancer ; Cleft Lip|Cleft Palate|Tooth Abnormalities; breast cancer ; cervical cancer; Crohn Disease|; Colitis, Ulcerative|; gastric carcinoma risk; urinary calculus; stomach cancer; transitional cell carcinoma of the bladder.; breast carcinomas; bladder cancer; Pancreatic Neoplasms; respiratory syncytial virus bronchiolitis; meningioma; colorectal cancer; hepatitis B, chronic; Nasopharyngeal Neoplasms	In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein.  Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time.	InlA-mediated entry of Listeria monocytogenes into host cells	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;NAS|GO:0007416;synapse assembly;IEA|GO:0009636;response to toxic substance;IEA|GO:0010033;response to organic substance;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0021983;pituitary gland development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IMP|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0031175;neuron projection development;IEA|GO:0034332;adherens junction organization;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0042493;response to drug;IEA|GO:0042993;positive regulation of transcription factor import into nucleus;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0071285;cellular response to lithium ion;IDA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0072659;protein localization to plasma membrane;IDA|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IMP|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0043296;apical junction complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0030506;ankyrin binding;IPI|GO:0032794;GTPase activating protein binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDH1	https://www.uniprot.org/uniprot/P12830	https://hpo.jax.org/app/browse/search?q=CDH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=192090	http://www.informatics.jax.org/searchtool/Search.do?query=CDH1&submit=Quick%0D%806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH1	rs12446407	0.281749	0	0	1	0	0	intronic	intronic	intronic	CDH1	CDH1	ENSG00000039068	Na	Na	Na	Na	Na	Na	Het;G>A	212;2|7	Hom;G>A	50;0|2
N	N	-	16	69782855	69782855	C	T	snp	nonsynonymous SNV	G692A	R231Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NOB1	Nob1	ENSG00000141101	NIN1/PSMD8 binding protein 1 homolog	chr16:69775770-69788843	In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000469;cleavage involved in rRNA processing;IBA|GO:0006364;rRNA processing;TAS|GO:0007601;visual perception;IEA|GO:0030490;maturation of SSU-rRNA;IBA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0030688;preribosome, small subunit precursor;IBA	GO:0004521;endoribonuclease activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOB1	https://www.uniprot.org/uniprot/Q9ULX3		https://www.ncbi.nlm.nih.gov/omim/?term=613586	http://www.informatics.jax.org/searchtool/Search.do?query=NOB1&submit=Quick%0D%8123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOB1	rs3811348	0.34385	0.4384	0.5178	0.08	1	13	exonic	exonic	exonic	NOB1	NOB1	ENSG00000141101	nonsynonymous SNV	nonsynonymous SNV	unknown	NOB1:NM_014062:exon6:c.G692A:p.R231Q,	NOB1:uc002exs.4:exon6:c.G692A:p.R231Q,NOB1:uc031qwt.1:exon5:c.G512A:p.R171Q,	UNKNOWN	Het;C>T	855;83|49	Hom;C>T	3602;1|131
N	N	-	16	70502610	70502610	C	G	snp	intronic	 	 	 	 	FUK	Fuk	ENSG00000157353	fucokinase	chr16:70488324-70514177	The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]		 	GDP-fucose biosynthesis	GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0042352;GDP-L-fucose salvage;IBA|GO:0046835;carbohydrate phosphorylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016772;transferase activity, transferring phosphorus-containing groups;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0050201;fucokinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FUK			https://www.ncbi.nlm.nih.gov/omim/?term=608675	http://www.informatics.jax.org/searchtool/Search.do?query=FUK&submit=Quick%0D%10086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FUK	rs12446395	0.600439	0	0	1	0	0	intronic	intronic	intronic	FUK	FUK	ENSG00000157353	Na	Na	Na	Na	Na	Na	Het;C>G	76;2|3	Hom;C>G	298;0|8
N	N	-	16	70506907	70506907	T	C	snp	synonymous SNV	T1428C	P476P	hydrophobic,neutral	hydrophobic,neutral	FUK	Fuk	ENSG00000157353	fucokinase	chr16:70488324-70514177	The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]		 	GDP-fucose biosynthesis	GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0042352;GDP-L-fucose salvage;IBA|GO:0046835;carbohydrate phosphorylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016772;transferase activity, transferring phosphorus-containing groups;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0050201;fucokinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FUK			https://www.ncbi.nlm.nih.gov/omim/?term=608675	http://www.informatics.jax.org/searchtool/Search.do?query=FUK&submit=Quick%0D%10086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FUK	rs7192865	0.578075	0.5723	0.5579	1	0	0	exonic	exonic	exonic	FUK	FUK	ENSG00000157353	synonymous SNV	synonymous SNV	unknown	FUK:NM_145059:exon15:c.T1428C:p.P476P,	FUK:uc002eyy.3:exon15:c.T1428C:p.P476P,FUK:uc010cft.3:exon15:c.T1524C:p.P508P,	UNKNOWN	Het;T>C	828;61|47	Hom;T>C	3028;0|110
N	N	-	16	70515600	70515600	T	G	snp	intronic	 	 	 	 	COG4	Cog4	ENSG00000103051	component of oligomeric golgi complex 4	chr16:70514471-70557468	The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]	HIV Infections|[X]Human immunodeficiency virus disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0000301;retrograde transport, vesicle recycling within Golgi;IBA|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IMP|GO:0007030;Golgi organization;IMP|GO:0015031;protein transport;IEA|GO:0048213;Golgi vesicle prefusion complex stabilization;IMP	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG4	https://www.uniprot.org/uniprot/Q9H9E3	https://hpo.jax.org/app/browse/search?q=COG4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606976	http://www.informatics.jax.org/searchtool/Search.do?query=COG4&submit=Quick%0D%2960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG4	rs6416698	0.620208	0	0	1	0	0	intronic	intronic	intronic	COG4	COG4	ENSG00000103051	Na	Na	Na	Na	Na	Na	Het;T>G	342;8|14	Hom;T>G	664;0|21
N	N	-	16	70516109	70516109	G	A	snp	intronic	 	 	 	 	COG4	Cog4	ENSG00000103051	component of oligomeric golgi complex 4	chr16:70514471-70557468	The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]	HIV Infections|[X]Human immunodeficiency virus disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0000301;retrograde transport, vesicle recycling within Golgi;IBA|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IMP|GO:0007030;Golgi organization;IMP|GO:0015031;protein transport;IEA|GO:0048213;Golgi vesicle prefusion complex stabilization;IMP	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG4	https://www.uniprot.org/uniprot/Q9H9E3	https://hpo.jax.org/app/browse/search?q=COG4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606976	http://www.informatics.jax.org/searchtool/Search.do?query=COG4&submit=Quick%0D%2960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG4	rs12447090	0.285743	0.3490	0.4108	1	0	0	intronic	intronic	intronic	COG4	COG4	ENSG00000103051	Na	Na	Na	Na	Na	Na	Het;G>A	1142;37|48	Hom;G>A	2465;0|86
N	N	-	16	70972595	70972595	T	C	snp	nonsynonymous SNV	A6917G	E2306G	polar,hydrophilic,charged(-)	aliphatic,neutral	HYDIN	Hydin	ENSG00000283022	HYDIN, axonemal central pair apparatus protein	chr16:70841281-71264625	This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder	Mice homozygous for a mutation in this gene develop hydrocephaly after birth.  Symptoms develop after 3-5 days.  Affected animals usually die before 2 months of age.		GO:0003341;cilium movement;IEA	GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HYDIN		https://hpo.jax.org/app/browse/search?q=HYDIN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610812	http://www.informatics.jax.org/searchtool/Search.do?query=HYDIN&submit=Quick%0D%22672ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HYDIN	rs2502726	0.453874	0	0.6164	0.67	8	12	exonic	exonic	exonic	HYDIN	HYDIN	ENSG00000157423	nonsynonymous SNV	nonsynonymous SNV	unknown	HYDIN:NM_001270974:exon44:c.A6917G:p.E2306G,	HYDIN:uc031qwy.1:exon44:c.A6917G:p.E2306G,	UNKNOWN	Het;T>C	1110;39|54	Hom;T>C	2248;0|80
N	N	-	16	70972784	70972784	A	G	snp	intronic	 	 	 	 	HYDIN	Hydin	ENSG00000283022	HYDIN, axonemal central pair apparatus protein	chr16:70841281-71264625	This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder	Mice homozygous for a mutation in this gene develop hydrocephaly after birth.  Symptoms develop after 3-5 days.  Affected animals usually die before 2 months of age.		GO:0003341;cilium movement;IEA	GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HYDIN		https://hpo.jax.org/app/browse/search?q=HYDIN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610812	http://www.informatics.jax.org/searchtool/Search.do?query=HYDIN&submit=Quick%0D%22672ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HYDIN	rs1615602	0.448682	0	0	1	0	0	intronic	intronic	intronic	HYDIN	HYDIN	ENSG00000157423	Na	Na	Na	Na	Na	Na	Het;A>G	121;6|7	Hom;A>G	322;0|11
N	N	-	16	71319539	71319539	C	T	snp	synonymous SNV	G285A	A95A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FTSJD1																		rs3826247	0.462061	0.5675	0.5864	1	0	0	exonic	exonic	exonic	CMTR2	FTSJD1	ENSG00000180917	synonymous SNV	synonymous SNV	unknown	CMTR2:NM_018348:exon3:c.G285A:p.A95A,CMTR2:NM_001099642:exon3:c.G285A:p.A95A,	FTSJD1:uc010cga.3:exon3:c.G285A:p.A95A,FTSJD1:uc002ezy.4:exon3:c.G285A:p.A95A,FTSJD1:uc002ezz.4:exon3:c.G285A:p.A95A,FTSJD1:uc021tkr.1:exon1:c.G285A:p.A95A,	UNKNOWN	Het;C>T	1291;47|58	Hom;C>T	3020;0|108
N	N	-	16	7152170	7152170	A	G	snp	intronic	 	 	 	 	RBFOX1	Rbfox1	ENSG00000078328	RNA binding protein, fox-1 homolog 1	chr16:6069095-7763340	The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease	Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation.		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1	https://www.uniprot.org/uniprot/Q9NWB1		https://www.ncbi.nlm.nih.gov/omim/?term=605104	http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1	rs2127063	0.321086	0	0	1	0	0	intronic	intronic	intronic	RBFOX1	RBFOX1	ENSG00000078328	Na	Na	Na	Na	Na	Na	Het;A>G	609;62|34	Hom;A>G	1967;0|76
N	N	-	16	71660115	71660115	G	C	snp	UTR5	-18G>C	 	 	 	MARVELD3	Marveld3	ENSG00000140832	MARVEL domain containing 3	chr16:71660064-71676017			 		GO:0006970;response to osmotic stress;IMP|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0045216;cell-cell junction organization;IMP|GO:0046329;negative regulation of JNK cascade;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IMP|GO:0070830;bicellular tight junction assembly;IMP|GO:1902414;protein localization to cell junction;IMP	GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MARVELD3	https://www.uniprot.org/uniprot/Q96A59		https://www.ncbi.nlm.nih.gov/omim/?term=614094	http://www.informatics.jax.org/searchtool/Search.do?query=MARVELD3&submit=Quick%0D%8079ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARVELD3	rs4788820	0.88738	0.8724	0.8870	1	0	0	UTR5	UTR5	ncRNA_intronic	MARVELD3(NM_052858:c.-18G>C,NM_001017967:c.-18G>C,NM_001271329:c.-18G>C)	MARVELD3(uc002fas.2:c.-18G>C,uc002fat.4:c.-18G>C,uc002fau.4:c.-18G>C,uc010cge.4:c.-18G>C)	ENSG00000260593	Na	Na	Na	Na	Na	Na	Het;G>C	213;13|12	Hom;G>C	537;0|18
N	N	-	16	716798	716798	C	T	snp	intronic	 	 	 	 	WDR90	Wdr90	ENSG00000161996	WD repeat domain 90	chr16:699311-717833			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR90				http://www.informatics.jax.org/searchtool/Search.do?query=WDR90&submit=Quick%0D%10637ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR90	rs12447392	0.0802716	0.1080	0.1465	1	0	0	intronic	intronic	intronic	WDR90	WDR90	ENSG00000161996	Na	Na	Na	Na	Na	Na	Het;C>T	1331;41|57	Hom;C>T	2892;2|102
N	N	-	16	71701248	71701248	G	A	snp	intronic	 	 	 	 	PHLPP2	Phlpp2	ENSG00000040199	PH domain and leucine rich repeat protein phosphatase 2	chr16:71671738-71758604		Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis.	Negative regulation of the PI3K/AKT network	GO:0006470;protein dephosphorylation;IEA|GO:0007165;signal transduction;IBA|GO:0021766;hippocampus development;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0042622;photoreceptor outer segment membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHLPP2	https://www.uniprot.org/uniprot/Q6ZVD8		https://www.ncbi.nlm.nih.gov/omim/?term=611066	http://www.informatics.jax.org/searchtool/Search.do?query=PHLPP2&submit=Quick%0D%815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLPP2	rs1423983	0.898163	0.8314	0.8772	1	0	0	intronic	intronic	intronic	PHLPP2	PHLPP2	ENSG00000040199	Na	Na	Na	Na	Na	Na	Het;G>A	851;35|43	Hom;G>A	1506;0|57
N	N	-	16	71715915	71715915	G	GA	indel	intronic	 	 	 	 	PHLPP2	Phlpp2	ENSG00000040199	PH domain and leucine rich repeat protein phosphatase 2	chr16:71671738-71758604		Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis.	Negative regulation of the PI3K/AKT network	GO:0006470;protein dephosphorylation;IEA|GO:0007165;signal transduction;IBA|GO:0021766;hippocampus development;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0042622;photoreceptor outer segment membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHLPP2	https://www.uniprot.org/uniprot/Q6ZVD8		https://www.ncbi.nlm.nih.gov/omim/?term=611066	http://www.informatics.jax.org/searchtool/Search.do?query=PHLPP2&submit=Quick%0D%815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLPP2	rs11439127	0.949081	0	0	1	0	0	intronic	intronic	intronic	PHLPP2	PHLPP2	ENSG00000040199	Na	Na	Na	Na	Na	Na	Het;+A	261;4|12	Hom;+A	831;0|31
N	N	-	16	71718366	71718366	C	T	snp	intronic	 	 	 	 	PHLPP2	Phlpp2	ENSG00000040199	PH domain and leucine rich repeat protein phosphatase 2	chr16:71671738-71758604		Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis.	Negative regulation of the PI3K/AKT network	GO:0006470;protein dephosphorylation;IEA|GO:0007165;signal transduction;IBA|GO:0021766;hippocampus development;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0042622;photoreceptor outer segment membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHLPP2	https://www.uniprot.org/uniprot/Q6ZVD8		https://www.ncbi.nlm.nih.gov/omim/?term=611066	http://www.informatics.jax.org/searchtool/Search.do?query=PHLPP2&submit=Quick%0D%815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLPP2	rs7195059	0.908546	0.8400	0.8799	1	0	0	intronic	intronic	intronic	PHLPP2	PHLPP2	ENSG00000040199	Na	Na	Na	Na	Na	Na	Het;C>T	411;33|23	Hom;C>T	1279;0|50
N	N	-	16	71736702	71736702	G	GTATTTT	indel	intronic	 	 	 	 	PHLPP2	Phlpp2	ENSG00000040199	PH domain and leucine rich repeat protein phosphatase 2	chr16:71671738-71758604		Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis.	Negative regulation of the PI3K/AKT network	GO:0006470;protein dephosphorylation;IEA|GO:0007165;signal transduction;IBA|GO:0021766;hippocampus development;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0042622;photoreceptor outer segment membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHLPP2	https://www.uniprot.org/uniprot/Q6ZVD8		https://www.ncbi.nlm.nih.gov/omim/?term=611066	http://www.informatics.jax.org/searchtool/Search.do?query=PHLPP2&submit=Quick%0D%815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLPP2	rs10626314	0.899561	0	0	1	0	0	intronic	intronic	intronic	PHLPP2	PHLPP2	ENSG00000040199	Na	Na	Na	Na	Na	Na	Het;+TATTTT	75;1|3	Hom;+TATTTT	53;0|2
N	N	-	16	71772795	71772795	G	A	snp	intronic	 	 	 	 	AP1G1	Ap1g1	ENSG00000166747	adaptor related protein complex 1 gamma 1 subunit	chr16:71762913-71843104	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032438;melanosome organization;IC|GO:0035646;endosome to melanosome transport;IMP|GO:0043323;positive regulation of natural killer cell degranulation;IMP|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0090160;Golgi to lysosome transport;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0019894;kinesin binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AP1G1			https://www.ncbi.nlm.nih.gov/omim/?term=603533	http://www.informatics.jax.org/searchtool/Search.do?query=AP1G1&submit=Quick%0D%11856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1G1	rs904764	0.922524	0.8526	0.8237	1	0	0	intronic	intronic	intronic	AP1G1	AP1G1	ENSG00000166747	Na	Na	Na	Na	Na	Na	Het;G>A	598;20|25	Hom;G>A	1789;0|56
N	N	-	16	71790166	71790166	G	A	snp	UTR3	*362C>T	 	 	 	AP1G1	Ap1g1	ENSG00000166747	adaptor related protein complex 1 gamma 1 subunit	chr16:71762913-71843104	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032438;melanosome organization;IC|GO:0035646;endosome to melanosome transport;IMP|GO:0043323;positive regulation of natural killer cell degranulation;IMP|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0090160;Golgi to lysosome transport;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0019894;kinesin binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AP1G1			https://www.ncbi.nlm.nih.gov/omim/?term=603533	http://www.informatics.jax.org/searchtool/Search.do?query=AP1G1&submit=Quick%0D%11856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1G1	rs8053186	0.913738	0	0	1	0	0	intronic	intronic	UTR3	AP1G1	AP1G1	ENSG00000166747(ENST00000565009:c.*362C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	235;5|9	Hom;G>A	421;0|13
N	N	-	16	71790221	71790221	A	G	snp	UTR3	*307T>C	 	 	 	AP1G1	Ap1g1	ENSG00000166747	adaptor related protein complex 1 gamma 1 subunit	chr16:71762913-71843104	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032438;melanosome organization;IC|GO:0035646;endosome to melanosome transport;IMP|GO:0043323;positive regulation of natural killer cell degranulation;IMP|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0090160;Golgi to lysosome transport;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0019894;kinesin binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AP1G1			https://www.ncbi.nlm.nih.gov/omim/?term=603533	http://www.informatics.jax.org/searchtool/Search.do?query=AP1G1&submit=Quick%0D%11856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1G1	rs8052910	0.903155	0	0	1	0	0	intronic	intronic	UTR3	AP1G1	AP1G1	ENSG00000166747(ENST00000565009:c.*307T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	67;2|3	Hom;A>G	131;0|4
N	N	-	16	71804956	71804956	C	G	snp	intronic	 	 	 	 	AP1G1	Ap1g1	ENSG00000166747	adaptor related protein complex 1 gamma 1 subunit	chr16:71762913-71843104	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032438;melanosome organization;IC|GO:0035646;endosome to melanosome transport;IMP|GO:0043323;positive regulation of natural killer cell degranulation;IMP|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0090160;Golgi to lysosome transport;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0019894;kinesin binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AP1G1			https://www.ncbi.nlm.nih.gov/omim/?term=603533	http://www.informatics.jax.org/searchtool/Search.do?query=AP1G1&submit=Quick%0D%11856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1G1	rs9635524	0.902556	0	0	1	0	0	intronic	intronic	intronic	AP1G1	AP1G1	ENSG00000166747	Na	Na	Na	Na	Na	Na	Het;C>G	40;3|2	Hom;C>G	185;0|5
N	N	-	16	71805160	71805160	G	A	snp	intronic	 	 	 	 	AP1G1	Ap1g1	ENSG00000166747	adaptor related protein complex 1 gamma 1 subunit	chr16:71762913-71843104	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032438;melanosome organization;IC|GO:0035646;endosome to melanosome transport;IMP|GO:0043323;positive regulation of natural killer cell degranulation;IMP|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0090160;Golgi to lysosome transport;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0019894;kinesin binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AP1G1			https://www.ncbi.nlm.nih.gov/omim/?term=603533	http://www.informatics.jax.org/searchtool/Search.do?query=AP1G1&submit=Quick%0D%11856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1G1	rs4788443	0.913738	0.8279	0.8695	1	0	0	intronic	intronic	intronic	AP1G1	AP1G1	ENSG00000166747	Na	Na	Na	Na	Na	Na	Het;G>A	327;22|18	Hom;G>A	1229;0|42
N	N	-	16	71852833	71852833	C	A	snp	intergenic	 	 	 	 	AP1G1	Ap1g1	ENSG00000166747	adaptor related protein complex 1 gamma 1 subunit	chr16:71762913-71843104	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age.	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032438;melanosome organization;IC|GO:0035646;endosome to melanosome transport;IMP|GO:0043323;positive regulation of natural killer cell degranulation;IMP|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0090160;Golgi to lysosome transport;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0019894;kinesin binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AP1G1			https://www.ncbi.nlm.nih.gov/omim/?term=603533	http://www.informatics.jax.org/searchtool/Search.do?query=AP1G1&submit=Quick%0D%11856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1G1	rs62056490	0.770966	0	0	1	0	0	intergenic	intergenic	intergenic	AP1G1(dist=9857),ATXN1L(dist=27061)	AP1G1(dist=9857),ATXN1L(dist=27061)	ENSG00000166747(dist=9729),ENSG00000262140(dist=14857)	Na	Na	Na	Na	Na	Na	Het;C>A	35;8|4	Hom;C>A	156;0|7
N	N	-	16	71897926	71897926	T	C	snp	intronic	 	 	 	 	ZNF821	Zfp821	ENSG00000102984	zinc finger protein 821	chr16:71893583-71929239	This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]	Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF821	https://www.uniprot.org/uniprot/O75541			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF821&submit=Quick%0D%2946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF821	rs2335714	0.865815	0	0	1	0	0	intronic	intronic	intronic	ZNF821	ZNF821	ENSG00000102984,ENSG00000182149	Na	Na	Na	Na	Na	Na	Het;T>C	119;3|4	Hom;T>C	612;0|17
N	N	-	16	71917684	71917684	T	C	snp	intronic	 	 	 	 	ZNF821	Zfp821	ENSG00000102984	zinc finger protein 821	chr16:71893583-71929239	This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]	Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF821	https://www.uniprot.org/uniprot/O75541			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF821&submit=Quick%0D%2946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF821	rs1834034	0.865815	0	0	1	0	0	intronic	intronic	intronic	ZNF821	ZNF821	ENSG00000102984,ENSG00000182149	Na	Na	Na	Na	Na	Na	Het;T>C	96;2|6	Hom;T>C	161;0|6
N	N	-	16	71928850	71928850	T	C	snp	intronic	 	 	 	 	IST1	Ist1	ENSG00000182149	IST1, ESCRT-III associated factor	chr16:71879899-71962913	This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]	Iron; Attention deficit hyperactivity disorder and conduct disorder	 	Neutrophil degranulation	GO:0000910;cytokinesis;IMP|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IMP|GO:0009838;abscission;IDA|GO:0015031;protein transport;IEA|GO:0019076;viral release from host cell;IDA|GO:0036258;multivesicular body assembly;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0045184;establishment of protein localization;IMP|GO:0045862;positive regulation of proteolysis;IDA|GO:0046745;viral capsid secondary envelopment;IDA|GO:0048672;positive regulation of collateral sprouting;IEA|GO:0051301;cell division;IEA|GO:1904903;ESCRT III complex disassembly;NAS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0090543;Flemming body;IDA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA|GO:0090541;MIT domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IST1			https://www.ncbi.nlm.nih.gov/omim/?term=616434	http://www.informatics.jax.org/searchtool/Search.do?query=IST1&submit=Quick%0D%14726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IST1	rs11075908	0.785942	0	0	1	0	0	intronic	intronic	intronic	IST1	IST1	ENSG00000182149	Na	Na	Na	Na	Na	Na	Het;T>C	120;7|7	Hom;T>C	198;0|8
N	N	-	16	71955426	71955426	C	CAT	indel	ncRNA_intronic	 	 	 	 	ENSG00000261337																		rs397757979	0.868211	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IST1	IST1	ENSG00000261337	Na	Na	Na	Na	Na	Na	Het;+AT	278;12|9	Hom;+AT	762;0|18
N	N	-	16	71967599	71967599	T	G	snp	ncRNA_intronic	 	 	 	 	ENSG00000187008																		rs8063324	0.787141	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PKD1L3	PKD1L3	ENSG00000187008	Na	Na	Na	Na	Na	Na	Het;T>G	160;2|5	Hom;T>G	388;0|10
N	N	-	16	71981414	71981414	C	CTTTG	indel	frameshift substitution	3693_3693delinsCAAAG	 	 	 	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs149635567	0	0.6807	0.7818	1	0	0	exonic	exonic	ncRNA_exonic;splicing	PKD1L3	PKD1L3	ENSG00000187008;ENSG00000187008(ENST00000335106:exon23:c.3693+2G>CAAAG,ENST00000335106:exon23:c.3694-1G>CAAAG)	unknown	frameshift substitution	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon23:c.3693_3693delinsCAAAG,	Na	Het;+TTTG	256;25|9	Hom;+TTTG	2258;0|50
N	N	-	16	71986764	71986764	G	A	snp	ncRNA_intronic	 	 	 	 	ENSG00000187008																		rs11648353	0.78734	0.6965	0.7849	1	0	0	intronic	intronic	ncRNA_intronic	PKD1L3	PKD1L3	ENSG00000187008	Na	Na	Na	Na	Na	Na	Het;G>A	286;4|11	Hom;G>A	481;1|17
N	N	-	16	71986946	71986946	A	G	snp	synonymous SNV	T2856C	H952H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs7204708	0.842053	0.7611	0.8052	1	0	0	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	synonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon18:c.T2856C:p.H952H,	Na	Het;A>G	1212;77|57	Hom;A>G	3647;0|133
N	N	-	16	71987960	71987960	A	C	snp	ncRNA_intronic	 	 	 	 	ENSG00000187008																		rs9888745	0.580471	0	0.4700	1	0	0	intronic	intronic	ncRNA_intronic	PKD1L3	PKD1L3	ENSG00000187008	Na	Na	Na	Na	Na	Na	Het;A>C	229;8|11	Hom;A>C	211;0|8
N	N	-	16	71988106	71988106	C	T	snp	nonsynonymous SNV	G2707A	V903I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs9921412	0.787141	0.6989	0.7814	0.80	4	5	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	nonsynonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon17:c.G2707A:p.V903I,	Na	Het;C>T	846;79|43	Hom;C>T	2679;0|103
N	N	-	16	72007399	72007399	C	T	snp	nonsynonymous SNV	G1777A	V593M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs9925415	0.514377	0.5753	0.5161	1.00	5	5	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	nonsynonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon12:c.G1777A:p.V593M,	Na	Het;C>T	842;57|42	Hom;C>T	2334;0|86
N	N	-	16	72011181	72011181	G	T	snp	nonsynonymous SNV	C1713A	H571Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs1559401	0.755192	0.7749	0.8071	0.40	2	5	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	nonsynonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon11:c.C1713A:p.H571Q,	Na	Het;G>T	766;78|43	Hom;G>T	2748;0|62
N	N	-	16	72011193	72011193	A	C	snp	synonymous SNV	T1701G	P567P	hydrophobic,neutral	hydrophobic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs1559400	0.755192	0.7749	0.8067	1	0	0	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	synonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon11:c.T1701G:p.P567P,	Na	Het;A>C	895;88|46	Hom;A>C	3245;0|80
N	N	-	16	72011261	72011261	A	G	snp	synonymous SNV	T1633C	L545L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs1559399	0.776158	0.7930	0.8130	1	0	0	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	synonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon11:c.T1633C:p.L545L,	Na	Het;A>G	1687;95|80	Hom;A>G	4326;0|158
N	N	-	16	72011450	72011450	G	A	snp	ncRNA_intronic	 	 	 	 	ENSG00000187008																		rs1559398	0.755192	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PKD1L3	PKD1L3	ENSG00000187008	Na	Na	Na	Na	Na	Na	Het;G>A	335;1|9	Hom;G>A	422;0|10
N	N	-	16	72011457	72011457	C	G	snp	ncRNA_intronic	 	 	 	 	ENSG00000187008																		rs55908226	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PKD1L3	PKD1L3	ENSG00000187008	Na	Na	Na	Na	Na	Na	Het;C>G	305;1|8	Hom;C>G	332;0|7
N	N	-	16	72013797	72013797	G	C	snp	nonsynonymous SNV	C1286G	T429S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs7185272	0.755192	0.7746	0.8077	0.60	3	5	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	nonsynonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon9:c.C1286G:p.T429S,	Na	Het;G>C	1086;44|47	Hom;G>C	2192;0|77
N	N	-	16	72018099	72018099	C	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000187008																		rs12443563	0.757788	0.7799	0.8097	1	0	0	intronic	intronic	ncRNA_intronic	PKD1L3	PKD1L3	ENSG00000187008	Na	Na	Na	Na	Na	Na	Het;C>T	207;21|12	Hom;C>T	1012;0|39
N	N	-	16	72020134	72020134	T	C	snp	nonsynonymous SNV	A820G	K274E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs12708923	0.513179	0.5701	0.5134	0.20	1	5	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	nonsynonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon5:c.A820G:p.K274E,	Na	Het;T>C	635;29|29	Hom;T>C	1119;0|39
N	N	-	16	72020294	72020294	G	A	snp	synonymous SNV	C660T	A220A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs4788590	0.757388	0.7803	0.8078	1	0	0	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	synonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon5:c.C660T:p.A220A,	Na	Het;G>A	1189;54|52	Hom;G>A	2540;0|96
N	N	-	16	72020323	72020323	A	G	snp	nonsynonymous SNV	T631C	S211P	polar,hydrophilic,neutral	hydrophobic,neutral	PKD1L3	Pkd1l3	ENSG00000277481	polycystin 1 like 3, transient receptor potential channel interacting	chr16:71963441-72033877	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]	Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS	GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3			https://www.ncbi.nlm.nih.gov/omim/?term=607895	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3	rs4788591	0.775359	0.7926	0.8131	0.00	0	5	exonic	exonic	ncRNA_exonic	PKD1L3	PKD1L3	ENSG00000187008	unknown	nonsynonymous SNV	Na	UNKNOWN	PKD1L3:uc010vmm.2:exon5:c.T631C:p.S211P,	Na	Het;A>G	968;46|43	Hom;A>G	2072;0|73
N	N	-	16	72039446	72039446	T	C	snp	ncRNA_exonic	 	 	 	 	ATP5A1P3																		rs1820249	0.979433	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PKD1L3(dist=5569),DHODH(dist=3197)	PKD1L3(dist=5569),DHODH(dist=3197)	ENSG00000263232	Na	Na	Na	Na	Na	Na	Het;T>C	62;9|3	Hom;T>C	454;0|12
N	N	-	16	72039671	72039671	T	C	snp	ncRNA_exonic	 	 	 	 	ATP5A1P3																		rs1364261	0.982827	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PKD1L3(dist=5794),DHODH(dist=2972)	PKD1L3(dist=5794),DHODH(dist=2972)	ENSG00000263232	Na	Na	Na	Na	Na	Na	Het;T>C	364;29|16	Hom;T>C	986;0|33
N	N	-	16	72040032	72040032	T	G	snp	ncRNA_exonic	 	 	 	 	ATP5A1P3																		rs9929256	0.955471	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PKD1L3(dist=6155),DHODH(dist=2611)	PKD1L3(dist=6155),DHODH(dist=2611)	ENSG00000263232	Na	Na	Na	Na	Na	Na	Het;T>G	301;10|14	Hom;T>G	639;0|22
N	N	-	16	72042682	72042682	A	C	snp	nonsynonymous SNV	A19C	K7Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	DHODH	Dhodh	ENSG00000102967	dihydroorotate dehydrogenase (quinone)	chr16:72042487-72058954	The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Attention deficit hyperactivity disorder and conduct disorder; Arthritis, Rheumatoid	 	Pyrimidine biosynthesis	GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006221;pyrimidine nucleotide biosynthetic process;IEA|GO:0007565;female pregnancy;IEA|GO:0007595;lactation;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031000;response to caffeine;IEA|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0044205;'de novo' UMP biosynthetic process;IEA|GO:0046134;pyrimidine nucleoside biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0090140;regulation of mitochondrial fission;IEA|GO:1903576;response to L-arginine;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA	GO:0003824;catalytic activity;IEA|GO:0004152;dihydroorotate dehydrogenase activity;IEA|GO:0008144;drug binding;IEA|GO:0010181;FMN binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0048039;ubiquinone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHODH	https://www.uniprot.org/uniprot/Q02127	https://hpo.jax.org/app/browse/search?q=DHODH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126064	http://www.informatics.jax.org/searchtool/Search.do?query=DHODH&submit=Quick%0D%2940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHODH	rs3213422	0.564097	0.5446	0.5190	0.23	3	13	exonic	exonic	exonic	DHODH	DHODH	ENSG00000102967	nonsynonymous SNV	nonsynonymous SNV	unknown	DHODH:NM_001361:exon1:c.A19C:p.K7Q,	DHODH:uc002fbp.3:exon1:c.A19C:p.K7Q,	UNKNOWN	Het;A>C	1121;51|52	Hom;A>C	2907;0|112
N	N	-	16	72139396	72139396	T	C	snp	intronic	 	 	 	 	DHX38	Dhx38	ENSG00000140829	DEAH-box helicase 38	chr16:72127461-72146811	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]		 	mRNA 3'-end processing	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IDA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX38	https://www.uniprot.org/uniprot/Q92620	https://hpo.jax.org/app/browse/search?q=DHX38&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605584	http://www.informatics.jax.org/searchtool/Search.do?query=DHX38&submit=Quick%0D%8077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX38	rs150617	0.958866	0.9226	0.9216	1	0	0	intronic	intronic	intronic	DHX38	DHX38	ENSG00000140829	Na	Na	Na	Na	Na	Na	Het;T>C	1430;43|59	Hom;T>C	2420;0|87
N	N	-	16	72139537	72139537	T	C	snp	intronic	 	 	 	 	DHX38	Dhx38	ENSG00000140829	DEAH-box helicase 38	chr16:72127461-72146811	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]		 	mRNA 3'-end processing	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IDA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX38	https://www.uniprot.org/uniprot/Q92620	https://hpo.jax.org/app/browse/search?q=DHX38&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605584	http://www.informatics.jax.org/searchtool/Search.do?query=DHX38&submit=Quick%0D%8077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX38	rs42544	0.989816	0.9740	0.9756	1	0	0	intronic	intronic	intronic	DHX38	DHX38	ENSG00000140829	Na	Na	Na	Na	Na	Na	Het;T>C	1225;41|50	Hom;T>C	2483;0|90
N	N	-	16	72314252	72314252	C	T	snp	intergenic	 	 	 	 	AC009075.2																		rs13332557	0.442292	0	0	1	0	0	intergenic	intergenic	intergenic	PMFBP1(dist=107903),LINC01572(dist=2948)	PMFBP1(dist=107903),AK055364(dist=145595)	ENSG00000261774(dist=1785),ENSG00000207514(dist=96351)	Na	Na	Na	Na	Na	Na	Het;C>T	523;18|25	Hom;C>T	1131;0|35
N	N	-	16	72314620	72314620	G	T	snp	intergenic	 	 	 	 	AC009075.2																		rs13333771	0.445887	0	0	1	0	0	intergenic	intergenic	intergenic	PMFBP1(dist=108271),LINC01572(dist=2580)	PMFBP1(dist=108271),AK055364(dist=145227)	ENSG00000261774(dist=2153),ENSG00000207514(dist=95983)	Na	Na	Na	Na	Na	Na	Het;G>T	292;7|15	Hom;G>T	566;0|21
N	N	-	16	73605304	73605304	G	A	snp	intergenic	 	 	 	 	AC092114.1																		rs2676679	0.542133	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01568(dist=150009),LOC101928035(dist=620987)	TRNA_Lys(dist=93016),BC043527(dist=620987)	ENSG00000260848(dist=12883),ENSG00000259817(dist=241216)	Na	Na	Na	Na	Na	Na	Het;G>A	656;49|35	Hom;G>A	2205;0|85
N	N	-	16	74695079	74695079	G	T	snp	nonsynonymous SNV	C269A	T90N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RFWD3	Rfwd3	ENSG00000168411	ring finger and WD repeat domain 3	chr16:74655292-74700779		high-density lipoprotein cholesterol 	Mice homozygous for a knock-out allele exhibit female and male fertility (possibly infertility), gonad atrophy, oligospermia, failure of follicular development, increased cellular sensitivity to MMC treatment, and premature death.		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IDA|GO:0031571;mitotic G1 DNA damage checkpoint;IMP|GO:2000001;regulation of DNA damage checkpoint;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA|GO:0035861;site of double-strand break;IDA	GO:0002039;p53 binding;IPI|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0097371;MDM2/MDM4 family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RFWD3		https://hpo.jax.org/app/browse/search?q=RFWD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614151	http://www.informatics.jax.org/searchtool/Search.do?query=RFWD3&submit=Quick%0D%12263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD3	rs8058922	0.788139	0.7247	0.7139	0.08	1	13	exonic	exonic	exonic	RFWD3	RFWD3	ENSG00000168411	nonsynonymous SNV	nonsynonymous SNV	unknown	RFWD3:NM_018124:exon2:c.C269A:p.T90N,	RFWD3:uc010cgq.3:exon3:c.C269A:p.T90N,RFWD3:uc002fda.3:exon2:c.C269A:p.T90N,	UNKNOWN	Het;G>T	1879;85|87	Hom;G>T	4147;0|152
N	N	-	16	74712905	74712905	A	T	snp	intronic	 	 	 	 	MLKL	Mlkl	ENSG00000168404	mixed lineage kinase domain like pseudokinase	chr16:74705753-74734858	This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]	Hemoglobin A, Glycosylated; high-density lipoprotein cholesterol 	Mice homozygous for a knock-out allele exhibit imapired macrophage and mouse embryonic fibroblast necroptosis.	RIPK1-mediated regulated necrosis	GO:0006468;protein phosphorylation;IEA|GO:0012501;programmed cell death;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0070207;protein homotrimerization;IDA|GO:0070266;necroptotic process;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004871;signal transducer activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0019901;protein kinase binding;IEA|GO:0032403;protein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MLKL			https://www.ncbi.nlm.nih.gov/omim/?term=615153	http://www.informatics.jax.org/searchtool/Search.do?query=MLKL&submit=Quick%0D%12262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLKL	rs6564158	0.663538	0.6119	0.6414	1	0	0	intronic	intronic	intronic	MLKL	MLKL	ENSG00000168404	Na	Na	Na	Na	Na	Na	Het;A>T	92;24|8	Hom;A>T	567;0|23
N	N	-	16	74769956	74769957	CT	C	indel	intronic	 	 	 	 	FA2H	Fa2h	ENSG00000103089	fatty acid 2-hydroxylase	chr16:74746853-74808729	This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]	HIV-1; Stroke; kidney aging; high-density lipoprotein cholesterol ; Tobacco Use Disorder	Homozygotes for a null allele show demyelination, axonal loss, and cerebellar dysfunction. Homozygotes for a different null allele show late onset axon and myelin sheath degeneration, delayed fur emergence, altered sebum composition, sebocyte hyperproliferation, and cyclic alopecia.	Sphingolipid de novo biosynthesis	GO:0001949;sebaceous gland cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0008610;lipid biosynthetic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030258;lipid modification;IEA|GO:0032286;central nervous system myelin maintenance;IEA|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042634;regulation of hair cycle;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0080132;fatty acid alpha-hydroxylase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FA2H	https://www.uniprot.org/uniprot/Q7L5A8	https://hpo.jax.org/app/browse/search?q=FA2H&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611026	http://www.informatics.jax.org/searchtool/Search.do?query=FA2H&submit=Quick%0D%2966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FA2H	rs79682860	0.255591	0	0	1	0	0	intronic	intronic	intronic	FA2H	FA2H	ENSG00000103089	Na	Na	Na	Na	Na	Na	Het;-T	329;2|10	Hom;-T	165;0|5
N	N	-	16	74985516	74985516	T	A	snp	intronic	 	 	 	 	WDR59	Wdr59	ENSG00000103091	WD repeat domain 59	chr16:74907468-75034071		Tobacco Use Disorder; high-density lipoprotein cholesterol 	 		GO:0008150;biological_process;ND|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP	GO:0005575;cellular_component;ND|GO:0005765;lysosomal membrane;IDA|GO:0061700;GATOR2 complex;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR59	https://www.uniprot.org/uniprot/Q6PJI9		https://www.ncbi.nlm.nih.gov/omim/?term=617418	http://www.informatics.jax.org/searchtool/Search.do?query=WDR59&submit=Quick%0D%2967ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR59	rs3743921	0.663139	0	0	1	0	0	intronic	intronic	intronic	WDR59	WDR59	ENSG00000103091	Na	Na	Na	Na	Na	Na	Het;T>A	282;8|11	Hom;T>A	303;0|10
N	N	-	16	74999617	74999617	A	C	snp	intronic	 	 	 	 	WDR59	Wdr59	ENSG00000103091	WD repeat domain 59	chr16:74907468-75034071		Tobacco Use Disorder; high-density lipoprotein cholesterol 	 		GO:0008150;biological_process;ND|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP	GO:0005575;cellular_component;ND|GO:0005765;lysosomal membrane;IDA|GO:0061700;GATOR2 complex;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR59	https://www.uniprot.org/uniprot/Q6PJI9		https://www.ncbi.nlm.nih.gov/omim/?term=617418	http://www.informatics.jax.org/searchtool/Search.do?query=WDR59&submit=Quick%0D%2967ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR59	rs4888324	0.644569	0.5234	0	1	0	0	intronic	intronic	intronic	WDR59	WDR59	ENSG00000103091	Na	Na	Na	Na	Na	Na	Het;A>C	1276;36|33	Hom;A>C	2892;0|63
N	N	-	16	74999625	74999625	A	T	snp	intronic	 	 	 	 	WDR59	Wdr59	ENSG00000103091	WD repeat domain 59	chr16:74907468-75034071		Tobacco Use Disorder; high-density lipoprotein cholesterol 	 		GO:0008150;biological_process;ND|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP	GO:0005575;cellular_component;ND|GO:0005765;lysosomal membrane;IDA|GO:0061700;GATOR2 complex;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR59	https://www.uniprot.org/uniprot/Q6PJI9		https://www.ncbi.nlm.nih.gov/omim/?term=617418	http://www.informatics.jax.org/searchtool/Search.do?query=WDR59&submit=Quick%0D%2967ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR59	rs4887796	0.644968	0.5349	0.5309	1	0	0	intronic	intronic	intronic	WDR59	WDR59	ENSG00000103091	Na	Na	Na	Na	Na	Na	Het;A>T	1470;38|44	Hom;A>T	2931;0|67
N	N	-	16	75565420	75565420	A	G	snp	UTR5	-1138T>C	 	 	 	CHST5		ENSG00000135702	carbohydrate sulfotransferase 5	chr16:75562433-75569145	The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011]	esophageal adenocarcinoma; Chronic renal failure|Kidney Failure, Chronic; high-density lipoprotein cholesterol ; drug-related genes 	Homozygous mutation of this gene results in thinner corneas that show abnormally close collagen fibrillar packing.	Keratan sulfate biosynthesis	GO:0005975;carbohydrate metabolic process;IEA|GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006477;protein sulfation;TAS|GO:0006790;sulfur compound metabolic process;IDA|GO:0018146;keratan sulfate biosynthetic process;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0031228;intrinsic component of Golgi membrane;NAS	GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;TAS|GO:0008146;sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHST5	https://www.uniprot.org/uniprot/Q9GZS9		https://www.ncbi.nlm.nih.gov/omim/?term=604817	http://www.informatics.jax.org/searchtool/Search.do?query=CHST5&submit=Quick%0D%7205ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST5	rs2641806	0.635383	0	0	1	0	0	UTR5	UTR5	UTR5	CHST5(NM_024533:c.-1138T>C)	CHST5(uc002fei.3:c.-1138T>C)	ENSG00000135702(ENST00000336257:c.-1138T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	171;6|10	Hom;A>G	218;0|8
N	N	-	16	75572012	75572012	A	G	snp	downstream	 	 	 	 	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs2550887	0.255192	0	0	1	0	0	downstream	intronic	intronic	TMEM231	CHST5	ENSG00000260092	Na	Na	Na	Na	Na	Na	Het;A>G	241;24|15	Hom;A>G	972;1|35
N	N	-	16	75572713	75572713	G	A	snp	UTR3	*1179C>T	 	 	 	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs2641800	0.329673	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM231(NM_001077418:c.*1179C>T,NM_001077416:c.*1179C>T)	TMEM231(uc002fel.4:c.*1179C>T,uc002fem.4:c.*1179C>T,uc002fek.4:c.*1179C>T)	ENSG00000205084(ENST00000258173:c.*1179C>T,ENST00000562410:c.*1932C>T,ENST00000568377:c.*1179C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1659;105|80	Hom;G>A	4798;1|178
N	N	-	16	75572791	75572791	G	A	snp	UTR3	*1101C>T	 	 	 	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs2738790	0.324081	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM231(NM_001077418:c.*1101C>T,NM_001077416:c.*1101C>T)	TMEM231(uc002fel.4:c.*1101C>T,uc002fem.4:c.*1101C>T,uc002fek.4:c.*1101C>T)	ENSG00000205084(ENST00000258173:c.*1101C>T,ENST00000562410:c.*1854C>T,ENST00000568377:c.*1101C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	3826;99|100	Hom;G>A	7858;2|179
N	N	-	16	75572793	75572793	T	C	snp	UTR3	*1099A>G	 	 	 	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs2738789	0.324081	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM231(NM_001077418:c.*1099A>G,NM_001077416:c.*1099A>G)	TMEM231(uc002fel.4:c.*1099A>G,uc002fem.4:c.*1099A>G,uc002fek.4:c.*1099A>G)	ENSG00000205084(ENST00000258173:c.*1099A>G,ENST00000562410:c.*1852A>G,ENST00000568377:c.*1099A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	3826;98|98	Hom;T>C	7858;2|177
N	N	-	16	75572820	75572820	G	A	snp	UTR3	*1072C>T	 	 	 	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs2650396	0.241214	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM231(NM_001077418:c.*1072C>T,NM_001077416:c.*1072C>T)	TMEM231(uc002fel.4:c.*1072C>T,uc002fem.4:c.*1072C>T,uc002fek.4:c.*1072C>T)	ENSG00000205084(ENST00000258173:c.*1072C>T,ENST00000562410:c.*1825C>T,ENST00000568377:c.*1072C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1975;87|91	Hom;G>A	4236;2|159
N	N	-	16	75573884	75573884	T	C	snp	UTR3	*8A>G	 	 	 	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs2242407	0.241414	0.2458	0.2562	1	0	0	UTR3	UTR3	UTR3	TMEM231(NM_001077418:c.*8A>G,NM_001077416:c.*8A>G)	TMEM231(uc002fel.4:c.*8A>G,uc002fem.4:c.*8A>G,uc002fek.4:c.*8A>G)	ENSG00000205084(ENST00000258173:c.*8A>G,ENST00000562410:c.*761A>G,ENST00000568377:c.*8A>G,ENST00000565067:c.*8A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1154;115|60	Hom;T>C	4610;1|169
N	N	-	16	75579233	75579233	A	T	snp	ncRNA_intronic	 	 	 	 	AC025287.1																		rs2738801	0.254992	0.2571	0.2492	1	0	0	intronic	intronic	ncRNA_intronic	TMEM231	CHST5,TMEM231	ENSG00000259992	Na	Na	Na	Na	Na	Na	Het;A>T	397;19|20	Hom;A>T	1005;0|38
N	N	-	16	75579924	75579924	A	C	snp	UTR5	-111T>G	 	 	 	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs8055668	0.254193	0	0.2219	1	0	0	intronic	UTR5	ncRNA_intronic	TMEM231	TMEM231(uc002fel.4:c.-111T>G)	ENSG00000259992	Na	Na	Na	Na	Na	Na	Het;A>C	1368;87|65	Hom;A>C	2972;2|112
N	N	-	16	75590113	75590113	C	G	snp	synonymous SNV	G57C	R19R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TMEM231	Tmem231	ENSG00000205084	transmembrane protein 231	chr16:75572015-75590184	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]	Meckel syndrome type 11	Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.		GO:0007224;smoothened signaling pathway;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM231		https://hpo.jax.org/app/browse/search?q=TMEM231&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614949	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM231&submit=Quick%0D%17459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM231	rs3743602	0.197085	0.1754	0.3116	1	0	0	exonic	UTR5	ncRNA_intronic	TMEM231	TMEM231(uc002fel.4:c.-10300G>C,uc002fem.4:c.-6G>C,uc002fek.4:c.-16G>C)	ENSG00000259992	synonymous SNV	Na	Na	TMEM231:NM_001077416:exon1:c.G57C:p.R19R,	Na	Na	Het;C>G	365;20|17	Hom;C>G	1268;2|47
N	N	-	16	75665019	75665019	A	G	snp	intronic	 	 	 	 	KARS	Kars	ENSG00000065427	lysyl-tRNA synthetase	chr16:75661622-75682541	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	HIV; high-density lipoprotein cholesterol ; Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0000187;activation of MAPK activity;IDA|GO:0002276;basophil activation involved in immune response;IGI|GO:0002741;positive regulation of cytokine secretion involved in immune response;IDA|GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006430;lysyl-tRNA aminoacylation;IDA|GO:0008033;tRNA processing;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010759;positive regulation of macrophage chemotaxis;IDA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IGI|GO:0016032;viral process;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IGI|GO:0070371;ERK1 and ERK2 cascade;IGI|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IDA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1905050;positive regulation of metallopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0017101;aminoacyl-tRNA synthetase multienzyme complex;IEA	GO:0000049;tRNA binding;NAS|GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004824;lysine-tRNA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016597;amino acid binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KARS	https://www.uniprot.org/uniprot/Q15046	https://hpo.jax.org/app/browse/search?q=KARS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601421	http://www.informatics.jax.org/searchtool/Search.do?query=KARS&submit=Quick%0D%1174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KARS	rs7189895	0.610823	0.4296	0.4444	1	0	0	intronic	intronic	intronic	KARS	KARS	ENSG00000065427	Na	Na	Na	Na	Na	Na	Het;A>G	204;10|10	Hom;A>G	209;0|8
N	N	-	16	75680507	75680507	T	G	snp	intronic	 	 	 	 	KARS	Kars	ENSG00000065427	lysyl-tRNA synthetase	chr16:75661622-75682541	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	HIV; high-density lipoprotein cholesterol ; Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial tRNA aminoacylation	GO:0000187;activation of MAPK activity;IDA|GO:0002276;basophil activation involved in immune response;IGI|GO:0002741;positive regulation of cytokine secretion involved in immune response;IDA|GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006430;lysyl-tRNA aminoacylation;IDA|GO:0008033;tRNA processing;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010759;positive regulation of macrophage chemotaxis;IDA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IGI|GO:0016032;viral process;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IGI|GO:0070371;ERK1 and ERK2 cascade;IGI|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IDA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1905050;positive regulation of metallopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0017101;aminoacyl-tRNA synthetase multienzyme complex;IEA	GO:0000049;tRNA binding;NAS|GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004824;lysine-tRNA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016597;amino acid binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KARS	https://www.uniprot.org/uniprot/Q15046	https://hpo.jax.org/app/browse/search?q=KARS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601421	http://www.informatics.jax.org/searchtool/Search.do?query=KARS&submit=Quick%0D%1174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KARS	rs59297469	0.618211	0	0	1	0	0	intronic	intronic	intronic	KARS	KARS	ENSG00000065427	Na	Na	Na	Na	Na	Na	Het;T>G	59;8|5	Hom;T>G	144;0|5
N	N	-	16	75791261	75791261	G	A	snp	intronic	 	 	 	 	TERF2IP	Terf2ip	ENSG00000166848	TERF2 interacting protein	chr16:75681684-75795770	The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]	breast cancer ; lung cancer ; Cardiovascular Diseases|Cerebrovascular Disorders; Heart Rate; Tuberculosis; high-density lipoprotein cholesterol ; Magnesium; breast cancer	Mice homozygous for a knock-out allele are fertile. Mice homozygous for a gene trapped allele die prior to E6.5 while heterozygous mice are resistant to LPS-induced mortality.	DNA Damage/Telomere Stress Induced Senescence	GO:0000723;telomere maintenance;IDA|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0007004;telomere maintenance via telomerase;TAS|GO:0010569;regulation of double-strand break repair via homologous recombination;IEA|GO:0010833;telomere maintenance via telomere lengthening;IEA|GO:0016233;telomere capping;TAS|GO:0031848;protection from non-homologous end joining at telomere;IMP|GO:0032204;regulation of telomere maintenance;IMP|GO:0032205;negative regulation of telomere maintenance;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0048239;negative regulation of DNA recombination at telomere;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0070198;protein localization to chromosome, telomeric region;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1901985;positive regulation of protein acetylation;IMP	GO:0000228;nuclear chromosome;TAS|GO:0000781;chromosome, telomeric region;IDA|GO:0000783;nuclear telomere cap complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0030870;Mre11 complex;IDA|GO:0070187;shelterin complex;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TERF2IP		https://hpo.jax.org/app/browse/search?q=TERF2IP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605061	http://www.informatics.jax.org/searchtool/Search.do?query=TERF2IP&submit=Quick%0D%11883ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TERF2IP	rs7196735	0.389976	0	0	1	0	0	intergenic	intergenic	intronic	TERF2IP(dist=99920),CNTNAP4(dist=519915)	TERF2IP(dist=99920),CNTNAP4(dist=519915)	ENSG00000166848	Na	Na	Na	Na	Na	Na	Het;G>A	154;9|7	Hom;G>A	199;0|7
N	N	-	16	7657373	7657373	A	G	snp	intronic	 	 	 	 	RBFOX1	Rbfox1	ENSG00000078328	RNA binding protein, fox-1 homolog 1	chr16:6069095-7763340	The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease	Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation.		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1	https://www.uniprot.org/uniprot/Q9NWB1		https://www.ncbi.nlm.nih.gov/omim/?term=605104	http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1	rs1507010	0.326677	0.3786	0.4496	1	0	0	intronic	intronic	intronic	RBFOX1	RBFOX1	ENSG00000078328	Na	Na	Na	Na	Na	Na	Het;A>G	491;59|29	Hom;A>G	3054;0|117
N	N	-	16	76952839	76952839	G	C	snp	ncRNA_intronic	 	 	 	 	AC106729.1																		rs4888570	0.677117	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR4719(dist=49923),MON1B(dist=271977)	MIR4719(dist=49923),MON1B(dist=271997)	ENSG00000259995	Na	Na	Na	Na	Na	Na	Het;G>C	106;11|7	Hom;G>C	657;0|24
N	N	-	16	7703785	7703785	G	GCT	indel	intronic	 	 	 	 	RBFOX1	Rbfox1	ENSG00000078328	RNA binding protein, fox-1 homolog 1	chr16:6069095-7763340	The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease	Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation.		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1	https://www.uniprot.org/uniprot/Q9NWB1		https://www.ncbi.nlm.nih.gov/omim/?term=605104	http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1	rs3217052	0.389377	0	0.4240	1	0	0	intronic	intronic	intronic	RBFOX1	RBFOX1	ENSG00000078328	Na	Na	Na	Na	Na	Na	Het;+CT	145;6|6	Hom;+CT	215;0|7
N	N	-	16	77327018	77327018	G	A	snp	synonymous SNV	C3144T	C1048C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs35296483	0.124201	0.0945	0.1408	1	0	0	exonic	exonic	exonic	ADAMTS18	ADAMTS18	ENSG00000140873	synonymous SNV	synonymous SNV	unknown	ADAMTS18:NM_199355:exon20:c.C3144T:p.C1048C,	ADAMTS18:uc002ffc.4:exon20:c.C3144T:p.C1048C,ADAMTS18:uc010chc.1:exon15:c.C1908T:p.C636C,	UNKNOWN	Het;G>A	1152;82|60	Hom;G>A	3996;3|152
N	N	-	16	77328895	77328895	C	T	snp	synonymous SNV	G2931A	V977V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs12935229	0.114617	0.0938	0.1308	1	0	0	exonic	exonic	exonic	ADAMTS18	ADAMTS18	ENSG00000140873	synonymous SNV	synonymous SNV	unknown	ADAMTS18:NM_199355:exon19:c.G2931A:p.V977V,	ADAMTS18:uc002ffc.4:exon19:c.G2931A:p.V977V,ADAMTS18:uc010chc.1:exon14:c.G1695A:p.V565V,	UNKNOWN	Het;C>T	876;75|48	Hom;C>T	2232;0|83
N	N	-	16	77328990	77328990	C	A	snp	nonsynonymous SNV	G2836T	A946S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs12935394	0.114018	0.0939	0.1312	0.15	2	13	exonic	exonic	exonic	ADAMTS18	ADAMTS18	ENSG00000140873	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTS18:NM_199355:exon19:c.G2836T:p.A946S,	ADAMTS18:uc002ffc.4:exon19:c.G2836T:p.A946S,ADAMTS18:uc010chc.1:exon14:c.G1600T:p.A534S,	UNKNOWN	Het;C>A	566;53|31	Hom;C>A	2073;0|77
N	N	-	16	77355179	77355179	C	G	snp	intronic	 	 	 	 	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs77699980	0.10623	0	0	1	0	0	intronic	intronic	intronic	ADAMTS18	ADAMTS18	ENSG00000140873	Na	Na	Na	Na	Na	Na	Het;C>G	340;12|15	Hom;C>G	427;0|15
N	N	-	16	77393072	77393072	C	G	snp	intronic	 	 	 	 	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs891134	0.453674	0	0	1	0	0	intronic	intronic	intronic	ADAMTS18	ADAMTS18	ENSG00000140873	Na	Na	Na	Na	Na	Na	Het;C>G	163;1|6	Hom;C>G	281;0|9
N	N	-	16	77393207	77393207	G	C	snp	intronic	 	 	 	 	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs2650907	0.46246	0.5634	0.5468	1	0	0	intronic	intronic	intronic	ADAMTS18	ADAMTS18	ENSG00000140873	Na	Na	Na	Na	Na	Na	Het;G>C	700;71|36	Hom;G>C	2504;0|90
N	N	-	16	77393445	77393448	GGAA	G	indel	intronic	 	 	 	 	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs143941492	0	0	0	1	0	0	intronic	intronic	intronic	ADAMTS18	ADAMTS18	ENSG00000140873	Na	Na	Na	Na	Na	Na	Het;-GAA	105;2|4	Hom;-GAA	709;0|20
N	N	-	16	77393449	77393449	A	C	snp	intronic	 	 	 	 	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs202197230	0	0	0	1	0	0	intronic	intronic	intronic	ADAMTS18	ADAMTS18	ENSG00000140873	Na	Na	Na	Na	Na	Na	Het;A>C	114;2|4	Hom;A>C	718;0|20
N	N	-	16	77395948	77395948	C	G	snp	intronic	 	 	 	 	ADAMTS18	Adamts18	ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18	chr16:77281710-77469011	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]	breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder	Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors.	O-glycosylation of TSR domain-containing proteins	GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18	https://www.uniprot.org/uniprot/Q8TE60	https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607512	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18	rs1909802	0.46885	0	0	1	0	0	intronic	intronic	intronic	ADAMTS18	ADAMTS18	ENSG00000140873	Na	Na	Na	Na	Na	Na	Het;C>G	802;11|31	Hom;C>G	888;0|31
N	N	-	16	7760884	7760884	T	G	snp	UTR3	*1241T>G	 	 	 	RBFOX1	Rbfox1	ENSG00000078328	RNA binding protein, fox-1 homolog 1	chr16:6069095-7763340	The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease	Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation.		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1	https://www.uniprot.org/uniprot/Q9NWB1		https://www.ncbi.nlm.nih.gov/omim/?term=605104	http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1	rs881562	0.465256	0	0	1	0	0	UTR3	UTR3	UTR3	RBFOX1(NM_001142333:c.*137T>G,NM_018723:c.*137T>G,NM_001142334:c.*137T>G,NM_145892:c.*137T>G,NM_145891:c.*137T>G,NM_145893:c.*259T>G)	RBFOX1(uc002cys.2:c.*137T>G,uc002cyt.2:c.*137T>G,uc010uyb.1:c.*137T>G,uc002cyw.2:c.*259T>G,uc002cyy.2:c.*137T>G,uc002cyx.2:c.*137T>G,uc010uyc.1:c.*137T>G)	ENSG00000078328(ENST00000547372:c.*1241T>G,ENST00000340209:c.*137T>G,ENST00000355637:c.*259T>G,ENST00000311745:c.*137T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	145;7|5	Hom;T>G	353;0|10
N	N	-	16	77756613	77756613	G	A	snp	intronic	 	 	 	 	NUDT7	Nudt7	ENSG00000140876	nudix hydrolase 7	chr16:77756411-77776157	The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]	high-density lipoprotein cholesterol 	Mice homozygous for a null allele exhibit increased susceptibility to DMM surgery-induced osteoarthritis or severe cartilage degeneration on a phytol enriched diet.	Peroxisomal lipid metabolism	GO:0008150;biological_process;ND|GO:0009062;fatty acid catabolic process;TAS|GO:0009132;nucleoside diphosphate metabolic process;IEA|GO:0015938;coenzyme A catabolic process;ISS|GO:0046356;acetyl-CoA catabolic process;ISS|GO:0050873;brown fat cell differentiation;IEA	GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS	GO:0000287;magnesium ion binding;IEA|GO:0003674;molecular_function;ND|GO:0003723;RNA binding;IEA|GO:0003986;acetyl-CoA hydrolase activity;ISS|GO:0005102;receptor binding;IPI|GO:0016289;CoA hydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0030145;manganese ion binding;IEA|GO:0030515;snoRNA binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT7	https://www.uniprot.org/uniprot/P0C024		https://www.ncbi.nlm.nih.gov/omim/?term=609231	http://www.informatics.jax.org/searchtool/Search.do?query=NUDT7&submit=Quick%0D%8087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT7	rs2914456	0.439896	0	0	1	0	0	intronic	intronic	intronic	NUDT7	NUDT7	ENSG00000140876	Na	Na	Na	Na	Na	Na	Het;G>A	136;16|8	Hom;G>A	361;0|13
N	N	-	16	78062159	78062159	C	T	snp	ncRNA_intronic	 	 	 	 	AC079414.1																		rs2075738	0.379992	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CLEC3A	CLEC3A	ENSG00000261540	Na	Na	Na	Na	Na	Na	Het;C>T	300;9|11	Hom;C>T	557;2|21
N	N	-	16	78063000	78063000	T	C	snp	UTR5	-2T>C	 	 	 	CLEC3A	Clec3a	ENSG00000166509	C-type lectin domain family 3 member A	chr16:78056412-78100658		high-density lipoprotein cholesterol ; Body Weights and Measures	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLEC3A			https://www.ncbi.nlm.nih.gov/omim/?term=613588	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC3A&submit=Quick%0D%11813ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC3A	rs7197560	0.366014	0	0.4201	1	0	0	UTR5	UTR5	ncRNA_intronic	CLEC3A(NM_001244755:c.-2T>C)	CLEC3A(uc021tlr.1:c.-2T>C)	ENSG00000261540	Na	Na	Na	Na	Na	Na	Het;T>C	589;41|29	Hom;T>C	1830;0|67
N	N	-	16	78063064	78063064	G	T	snp	ncRNA_intronic	 	 	 	 	AC079414.1																		rs7190832	0.360224	0	0.4119	1	0	0	intronic	intronic	ncRNA_intronic	CLEC3A	CLEC3A	ENSG00000261540	Na	Na	Na	Na	Na	Na	Het;G>T	602;42|33	Hom;G>T	1723;0|64
N	N	-	16	78143607	78143607	C	T	snp	intronic	 	 	 	 	WWOX	Wwox	ENSG00000186153	WW domain containing oxidoreductase	chr16:78133310-79246564	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity	Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele.	Activation of the TFAP2 (AP-2) family of transcription factors	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS	GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/WWOX		https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605131	http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX	rs2287972	0.466254	0.3896	0	1	0	0	intronic	intronic	intronic	WWOX	WWOX	ENSG00000186153	Na	Na	Na	Na	Na	Na	Het;C>T	179;18|10	Hom;C>T	634;0|24
N	N	-	16	78466758	78466758	A	C	snp	intronic	 	 	 	 	WWOX	Wwox	ENSG00000186153	WW domain containing oxidoreductase	chr16:78133310-79246564	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity	Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele.	Activation of the TFAP2 (AP-2) family of transcription factors	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS	GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/WWOX		https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605131	http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX	rs3764342	0.308706	0	0	1	0	0	intronic	intronic	intronic	WWOX	WWOX	ENSG00000186153	Na	Na	Na	Na	Na	Na	Het;A>C	712;21|27	Hom;A>C	1180;0|37
N	N	-	16	79066197	79066197	G	A	snp	intronic	 	 	 	 	WWOX	Wwox	ENSG00000186153	WW domain containing oxidoreductase	chr16:78133310-79246564	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity	Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele.	Activation of the TFAP2 (AP-2) family of transcription factors	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS	GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/WWOX		https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605131	http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX	rs7188279	0.735024	0	0	1	0	0	intronic	intronic	intronic	WWOX	WWOX	ENSG00000186153	Na	Na	Na	Na	Na	Na	Het;G>A	157;1|6	Hom;G>A	89;0|4
N	N	-	16	7960814	7960814	G	C	snp	intergenic	 	 	 	 	ENSG00000222109																		rs9935374	0.711262	0	0	1	0	0	intergenic	intergenic	intergenic	RBFOX1(dist=197474),NONE(dist=NONE)	RBFOX1(dist=197474),TMEM114(dist=658688)	ENSG00000222109(dist=11381),ENSG00000260003(dist=365451)	Na	Na	Na	Na	Na	Na	Het;G>C	716;35|31	Hom;G>C	854;2|32
N	N	-	16	79683575	79683575	C	G	snp	intergenic	 	 	 	 	MAF	Maf	ENSG00000178573	MAF bZIP transcription factor	chr16:79619740-79634611	The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]	Body Weight; Body Weights and Measures; Thyrotropin; Myocardial Infarction; Type 2 diabetes; Obesity; high-density lipoprotein cholesterol ; Socioeconomic Factors; gamma-Glutamyltransferase; Albumins; obesity; Respiratory Function Tests; Waist-Hip Ratio; Goiter; Natriuretic Peptide, Brain	Homozygotes show increased mortality at embryonic day 17.5-18.5, low postnatal survival, abnormal differentiation of lens fiber cells causing microphthalmia, defective lens development and impaired IL4 production by CD4+ T cells and natural killer cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001816;cytokine production;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0032330;regulation of chondrocyte differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048468;cell development;IEA|GO:0048839;inner ear development;IEA|GO:0070306;lens fiber cell differentiation;IEA	GO:0000785;chromatin;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAF		https://hpo.jax.org/app/browse/search?q=MAF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=177075	http://www.informatics.jax.org/searchtool/Search.do?query=MAF&submit=Quick%0D%14201ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAF	rs12932024	0.245407	0	0	1	0	0	intergenic	intergenic	intergenic	MAF(dist=48953),MAFTRR(dist=71634)	MAF(dist=48953),DYNLRB2(dist=891279)	ENSG00000178573(dist=48964),ENSG00000221330(dist=19977)	Na	Na	Na	Na	Na	Na	Het;C>G	122;2|4	Hom;C>G	142;0|4
N	N	-	16	79773966	79773966	A	AC	indel	ncRNA_intronic	 	 	 	 	MAFTRR																		rs55876401	0.571086	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	MAFTRR	MAF(dist=139344),DYNLRB2(dist=800888)	ENSG00000260876,ENSG00000261390	Na	Na	Na	Na	Na	Na	Het;+C	150;2|6	Hom;+C	134;0|4
N	N	-	16	80898856	80898856	C	A	snp	ncRNA_intronic	 	 	 	 	AK093002																		rs12447844	0.408147	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	CDYL2(dist=60681),CMC2(dist=110843)	AK093002	ENSG00000260896	Na	Na	Na	Na	Na	Na	Het;C>A	91;4|4	Hom;C>A	396;0|15
N	N	-	16	81015560	81015560	C	T	snp	intronic	 	 	 	 	CMC2	Cmc2	ENSG00000103121	C-X9-C motif containing 2	chr16:81009698-81053875		smoking cessation; high-density lipoprotein cholesterol 	 	Mitochondrial protein import		GO:0005739;mitochondrion;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CMC2	https://www.uniprot.org/uniprot/Q9NRP2			http://www.informatics.jax.org/searchtool/Search.do?query=CMC2&submit=Quick%0D%2969ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CMC2	rs2549822	0.77516	0	0	1	0	0	intronic	intronic	intronic	CMC2	CMC2	ENSG00000103121	Na	Na	Na	Na	Na	Na	Het;C>T	217;3|9	Hom;C>T	346;0|12
N	N	-	16	81061827	81061827	G	A	snp	nonsynonymous SNV	G862A	E288K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	CENPN	Cenpn	ENSG00000166451	centromere protein N	chr16:81040103-81066719	The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]	smoking cessation	 	Mitotic Prometaphase	GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS		http://www.genecards.org/index.php?path=/Search/keyword/CENPN			https://www.ncbi.nlm.nih.gov/omim/?term=611509	http://www.informatics.jax.org/searchtool/Search.do?query=CENPN&submit=Quick%0D%11797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPN	rs2549887	0.597244	0.6696	0.7104	0.08	1	13	exonic	exonic	exonic	CENPN	CENPN	ENSG00000166451	nonsynonymous SNV	nonsynonymous SNV	unknown	CENPN:NM_001100624:exon10:c.G862A:p.E288K,CENPN:NM_001100625:exon10:c.G862A:p.E288K,CENPN:NM_001270474:exon9:c.G760A:p.E254K,CENPN:NM_001270473:exon9:c.G802A:p.E268K,	CENPN:uc002ffy.4:exon10:c.G862A:p.E288K,CENPN:uc002ffx.2:exon10:c.G862A:p.E288K,CENPN:uc010vnm.1:exon9:c.G802A:p.E268K,CENPN:uc010vnl.1:exon9:c.G760A:p.E254K,	UNKNOWN	Het;G>A	1467;94|76	Hom;G>A	3293;0|124
N	N	-	16	81062030	81062030	G	T	snp	ncRNA_intronic	 	 	 	 	AC092718.2																		rs2549888	0.613618	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CENPN	CENPN	ENSG00000260213	Na	Na	Na	Na	Na	Na	Het;G>T	64;3|3	Hom;G>T	200;0|7
N	N	-	16	81062157	81062157	T	C	snp	ncRNA_intronic	 	 	 	 	AC092718.2																		rs114305409	0.607428	0	0.7141	1	0	0	intronic	intronic	ncRNA_intronic	CENPN	CENPN	ENSG00000260213	Na	Na	Na	Na	Na	Na	Het;T>C	84;2|2	Hom;T>C	177;0|4
N	N	-	16	81062171	81062171	C	T	snp	ncRNA_intronic	 	 	 	 	AC092718.2																		rs2602428	0.664936	0.7311	0.7301	1	0	0	intronic	intronic	ncRNA_intronic	CENPN	CENPN	ENSG00000260213	Na	Na	Na	Na	Na	Na	Het;C>T	78;4|3	Hom;C>T	211;0|6
N	N	-	16	81077915	81077915	T	C	snp	synonymous SNV	T1338C	A446A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ATMIN	Atmin	ENSG00000166454	ATM interactor	chr16:81069452-81080963		smoking cessation; high-density lipoprotein cholesterol 	Mice homozygous for a knock-out allele exhibit fetal lethality, craniofacial defects, midbrain exencephaly, and premature senescence of mouse embryonic fibroblasts. Homozygotes for an ENU-induced mutation exhibit left-right patterning defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0044458;motile cilium assembly;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1902857;positive regulation of non-motile cilium assembly;IEA	GO:0005634;nucleus;IEA|GO:0016604;nuclear body;IDA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATMIN			https://www.ncbi.nlm.nih.gov/omim/?term=614693	http://www.informatics.jax.org/searchtool/Search.do?query=ATMIN&submit=Quick%0D%11799ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATMIN	rs2257378	0.702676	0.7438	0.8206	1	0	0	exonic	exonic	exonic	ATMIN	ATMIN	ENSG00000166454	synonymous SNV	synonymous SNV	unknown	ATMIN:NM_001300728:exon4:c.T1344C:p.A448A,ATMIN:NM_015251:exon4:c.T1812C:p.A604A,	ATMIN:uc002fga.2:exon4:c.T1338C:p.A446A,ATMIN:uc010vnn.1:exon3:c.T1125C:p.A375A,ATMIN:uc002ffz.1:exon4:c.T1812C:p.A604A,ATMIN:uc002fgb.1:exon3:c.T1338C:p.A446A,	UNKNOWN	Het;T>C	1513;70|66	Hom;T>C	3442;0|120
N	N	-	16	81095363	81095363	C	T	snp	synonymous SNV	G591A	L197L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C16orf46	1700030J22Rik	ENSG00000166455	chromosome 16 open reading frame 46	chr16:81087102-81110872		Attention deficit hyperactivity disorder and conduct disorder; smoking cessation; Tobacco Use Disorder; Body Weights and Measures	 			GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C16orf46				http://www.informatics.jax.org/searchtool/Search.do?query=C16orf46&submit=Quick%0D%11800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf46	rs804885	0.716054	0.7666	0.8392	1	0	0	exonic	exonic	exonic	C16orf46	C16orf46	ENSG00000166455	synonymous SNV	synonymous SNV	unknown	C16orf46:NM_001100873:exon3:c.G591A:p.L197L,C16orf46:NM_152337:exon4:c.G591A:p.L197L,	C16orf46:uc010chf.3:exon3:c.G591A:p.L197L,C16orf46:uc002fgc.4:exon4:c.G591A:p.L197L,	UNKNOWN	Het;C>T	2024;105|96	Hom;C>T	4475;0|165
N	N	-	16	81142257	81142257	T	C	snp	synonymous SNV	A528G	G176G	aliphatic,neutral	aliphatic,neutral	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs1869348	0.582268	0.5398	0.4995	1	0	0	exonic	exonic	exonic	PKD1L2	PKD1L2	ENSG00000166473	unknown	synonymous SNV	unknown	UNKNOWN	PKD1L2:uc002fgf.1:exon10:c.A528G:p.G176G,	UNKNOWN	Het;T>C	1850;93|86	Hom;T>C	3318;0|122
N	N	-	16	81142358	81142358	C	A	snp	intronic	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs4520846	0.45607	0	0	1	0	0	intronic	intronic	intronic	PKD1L2	PKD1L2	ENSG00000166473	Na	Na	Na	Na	Na	Na	Het;C>A	791;31|40	Hom;C>A	1770;0|68
N	N	-	16	81157422	81157422	T	A	snp	intronic	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs79054096	0.13758	0.1498	0.1441	1	0	0	intronic	intronic	intronic	PKD1L2	PKD1L2	ENSG00000166473	Na	Na	Na	Na	Na	Na	Het;T>A	544;23|27	Hom;T>A	1157;0|44
N	N	-	16	81190598	81190598	T	C	snp	unknown	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs9938333	0.21226	0.1351	0.1837	0.20	1	5	exonic	intergenic	exonic	PKD1L2	NONE(dist=NONE),PKD1L2(dist=13297)	ENSG00000166473	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;T>C	809;49|39	Hom;T>C	3995;0|89
N	N	-	16	81199429	81199429	G	A	snp	intronic	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs12925622	0.363219	0.2523	0.3349	1	0	0	intronic	intergenic	intronic	PKD1L2	NONE(dist=NONE),PKD1L2(dist=4466)	ENSG00000166473	Na	Na	Na	Na	Na	Na	Het;G>A	537;40|29	Hom;G>A	1515;0|59
N	N	-	16	81199538	81199538	T	C	snp	unknown	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs12931227	0.376198	0.2392	0.3399	0.00	0	5	exonic	intergenic	exonic	PKD1L2	NONE(dist=NONE),PKD1L2(dist=4357)	ENSG00000166473	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;T>C	796;79|25	Hom;T>C	2377;0|55
N	N	-	16	81199544	81199544	G	A	snp	unknown	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs12925771	0.387181	0.2299	0.3429	0.00	0	3	exonic	intergenic	exonic	PKD1L2	NONE(dist=NONE),PKD1L2(dist=4351)	ENSG00000166473	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;G>A	799;70|25	Hom;G>A	2222;0|50
N	N	-	16	81199554	81199554	C	T	snp	unknown	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs12926898	0.390375	0	0.3300	1	0	0	exonic	intergenic	exonic	PKD1L2	NONE(dist=NONE),PKD1L2(dist=4341)	ENSG00000166473	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;C>T	646;67|20	Hom;C>T	1862;0|40
N	N	-	16	81199555	81199555	A	G	snp	unknown	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs12597040	0.392971	0	0.3306	0.00	0	5	exonic	intergenic	exonic	PKD1L2	NONE(dist=NONE),PKD1L2(dist=4340)	ENSG00000166473	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;A>G	607;66|20	Hom;A>G	1772;0|40
N	N	-	16	81201507	81201507	C	A	snp	intronic	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs34188236	0.20028	0.1680	0.3511	1	0	0	intronic	intergenic	intronic	PKD1L2	NONE(dist=NONE),PKD1L2(dist=2388)	ENSG00000166473	Na	Na	Na	Na	Na	Na	Het;C>A	582;37|29	Hom;C>A	949;2|36
N	N	-	16	81204720	81204720	C	A	snp	intronic	 	 	 	 	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs35271642	0.199081	0.1683	0.2426	1	0	0	intronic	intronic	intronic	PKD1L2	PKD1L2	ENSG00000166473	Na	Na	Na	Na	Na	Na	Het;C>A	730;41|35	Hom;C>A	1158;0|42
N	N	-	16	81208515	81208515	G	A	snp	nonsynonymous SNV	C533T	A178V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs12596941	0.202276	0.1673	0.2460	0.09	1	11	exonic	exonic	exonic	PKD1L2	PKD1L2	ENSG00000166473	nonsynonymous SNV	nonsynonymous SNV	unknown	PKD1L2:NM_001278423:exon5:c.C533T:p.A178V,PKD1L2:NM_001076780:exon16:c.C2588T:p.A863V,	PKD1L2:uc002fgj.3:exon16:c.C2588T:p.A863V,PKD1L2:uc002fgl.1:exon4:c.C356T:p.A119V,PKD1L2:uc002fgi.3:exon5:c.C533T:p.A178V,PKD1L2:uc002fgk.1:exon3:c.C14T:p.A5V,	UNKNOWN	Het;G>A	421;41|23	Hom;G>A	1199;0|45
N	N	-	16	81387846	81387847	GA	G	indel	intronic	 	 	 	 	GAN	Gan	ENSG00000261609	gigaxonin	chr16:81348557-81424489	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]	Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol 	Null homozygotes display some muscular atrophy and motor neuron degeneration with the  severity of these symptoms depending on genotype.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAN		https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605379	http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN	rs397855552	0.640575	0	0	1	0	0	intronic	intronic	intronic	GAN	GAN	ENSG00000261609	Na	Na	Na	Na	Na	Na	Het;-A	37;1|4	Hom;-A	138;0|8
N	N	-	16	81398520	81398520	G	A	snp	intronic	 	 	 	 	GAN	Gan	ENSG00000261609	gigaxonin	chr16:81348557-81424489	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]	Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol 	Null homozygotes display some muscular atrophy and motor neuron degeneration with the  severity of these symptoms depending on genotype.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAN		https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605379	http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN	rs4889313	0.739617	0	0	1	0	0	intronic	intronic	intronic	GAN	GAN	ENSG00000261609	Na	Na	Na	Na	Na	Na	Het;G>A	488;11|21	Hom;G>A	594;0|21
N	N	-	16	81411448	81411448	G	A	snp	UTR3	*247G>A	 	 	 	GAN	Gan	ENSG00000261609	gigaxonin	chr16:81348557-81424489	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]	Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol 	Null homozygotes display some muscular atrophy and motor neuron degeneration with the  severity of these symptoms depending on genotype.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAN		https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605379	http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN	rs2216769	0.627596	0	0	1	0	0	UTR3	UTR3	UTR3	GAN(NM_022041:c.*247G>A)	GAN(uc002fgo.3:c.*247G>A)	ENSG00000261609(ENST00000568107:c.*247G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	739;65|39	Hom;G>A	1601;0|57
N	N	-	16	81411673	81411673	C	G	snp	UTR3	*472C>G	 	 	 	GAN	Gan	ENSG00000261609	gigaxonin	chr16:81348557-81424489	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]	Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol 	Null homozygotes display some muscular atrophy and motor neuron degeneration with the  severity of these symptoms depending on genotype.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAN		https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605379	http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN	rs1816122	0.671126	0	0	1	0	0	UTR3	UTR3	UTR3	GAN(NM_022041:c.*472C>G)	GAN(uc002fgo.3:c.*472C>G)	ENSG00000261609(ENST00000568107:c.*472C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	460;46|26	Hom;C>G	1749;0|63
N	N	-	16	81411793	81411793	T	A	snp	UTR3	*592T>A	 	 	 	GAN	Gan	ENSG00000261609	gigaxonin	chr16:81348557-81424489	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]	Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol 	Null homozygotes display some muscular atrophy and motor neuron degeneration with the  severity of these symptoms depending on genotype.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAN		https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605379	http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN	rs1345895	0.641773	0	0	1	0	0	UTR3	UTR3	UTR3	GAN(NM_022041:c.*592T>A)	GAN(uc002fgo.3:c.*592T>A)	ENSG00000261609(ENST00000568107:c.*592T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	294;29|17	Hom;T>A	723;0|25
N	N	-	16	81412168	81412168	G	A	snp	UTR3	*967G>A	 	 	 	GAN	Gan	ENSG00000261609	gigaxonin	chr16:81348557-81424489	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]	Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol 	Null homozygotes display some muscular atrophy and motor neuron degeneration with the  severity of these symptoms depending on genotype.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAN		https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605379	http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN	rs12920236	0.305511	0	0	1	0	0	UTR3	UTR3	UTR3	GAN(NM_022041:c.*967G>A)	GAN(uc002fgo.3:c.*967G>A)	ENSG00000261609(ENST00000568107:c.*967G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	189;27|12	Hom;G>A	1551;0|60
N	N	-	16	81567554	81567554	A	G	snp	ncRNA_exonic	 	 	 	 	MIR7854																		rs2925980	0.378594	0	0.4167	1	0	0	ncRNA_exonic	intronic	intronic	MIR7854	CMIP	ENSG00000153815	Na	Na	Na	Na	Na	Na	Het;A>G	170;2|8	Hom;A>G	153;0|6
N	N	-	16	81641452	81641452	A	G	snp	intronic	 	 	 	 	CMIP	Cmip	ENSG00000153815	c-Maf inducing protein	chr16:81478775-81745367	This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Myocardial Infarction; Diabetes Mellitus, Type 2; Tunica Media; Adiponectin; Body Height; Cholesterol, HDL; Metabolism	 			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CMIP	https://www.uniprot.org/uniprot/Q8IY22		https://www.ncbi.nlm.nih.gov/omim/?term=610112	http://www.informatics.jax.org/searchtool/Search.do?query=CMIP&submit=Quick%0D%9689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CMIP	rs7203914	0.646166	0	0	1	0	0	intronic	intronic	intronic	CMIP	CMIP	ENSG00000153815	Na	Na	Na	Na	Na	Na	Het;A>G	74;2|3	Hom;A>G	283;0|8
N	N	-	16	81712334	81712334	C	T	snp	intronic	 	 	 	 	CMIP	Cmip	ENSG00000153815	c-Maf inducing protein	chr16:81478775-81745367	This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Myocardial Infarction; Diabetes Mellitus, Type 2; Tunica Media; Adiponectin; Body Height; Cholesterol, HDL; Metabolism	 			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CMIP	https://www.uniprot.org/uniprot/Q8IY22		https://www.ncbi.nlm.nih.gov/omim/?term=610112	http://www.informatics.jax.org/searchtool/Search.do?query=CMIP&submit=Quick%0D%9689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CMIP	rs12446838	0.412141	0	0	1	0	0	intronic	intronic	intronic	CMIP	CMIP	ENSG00000153815	Na	Na	Na	Na	Na	Na	Het;C>T	318;8|14	Hom;C>T	538;0|19
N	N	-	16	81819820	81819820	G	A	snp	intronic	 	 	 	 	PLCG2	Plcg2	ENSG00000197943	phospholipase C gamma 2	chr16:81772702-81991899	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]	Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction	Homozygotes for some null alleles show decreased B cell and impaired NK cell function.  Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCG2		https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600220	http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2	rs4294811	0.286142	0.2276	0.2818	1	0	0	intronic	intronic	intronic	PLCG2	PLCG2	ENSG00000197943	Na	Na	Na	Na	Na	Na	Het;G>A	874;43|43	Hom;G>A	1838;0|69
N	N	-	16	81914583	81914583	C	T	snp	intronic	 	 	 	 	PLCG2	Plcg2	ENSG00000197943	phospholipase C gamma 2	chr16:81772702-81991899	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]	Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction	Homozygotes for some null alleles show decreased B cell and impaired NK cell function.  Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCG2		https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600220	http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2	rs11865395	0.274161	0.2765	0.3126	1	0	0	intronic	intronic	intronic	PLCG2	PLCG2	ENSG00000197943	Na	Na	Na	Na	Na	Na	Het;C>T	740;52|41	Hom;C>T	1893;0|71
N	N	-	16	81939150	81939150	G	C	snp	intronic	 	 	 	 	PLCG2	Plcg2	ENSG00000197943	phospholipase C gamma 2	chr16:81772702-81991899	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]	Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction	Homozygotes for some null alleles show decreased B cell and impaired NK cell function.  Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCG2		https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600220	http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2	rs4435248	0.795527	0.7464	0.8227	1	0	0	intronic	intronic	intronic	PLCG2	PLCG2	ENSG00000197943	Na	Na	Na	Na	Na	Na	Het;G>C	876;80|47	Hom;G>C	3029;0|106
N	N	-	16	81939237	81939237	C	T	snp	intronic	 	 	 	 	PLCG2	Plcg2	ENSG00000197943	phospholipase C gamma 2	chr16:81772702-81991899	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]	Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction	Homozygotes for some null alleles show decreased B cell and impaired NK cell function.  Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCG2		https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600220	http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2	rs4264387	0.78115	0	0	1	0	0	intronic	intronic	intronic	PLCG2	PLCG2	ENSG00000197943	Na	Na	Na	Na	Na	Na	Het;C>T	179;9|8	Hom;C>T	554;0|17
N	N	-	16	81941319	81941319	C	T	snp	synonymous SNV	C1497T	A499A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PLCG2	Plcg2	ENSG00000197943	phospholipase C gamma 2	chr16:81772702-81991899	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]	Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction	Homozygotes for some null alleles show decreased B cell and impaired NK cell function.  Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCG2		https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600220	http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2	rs1143689	0.77496	0.7225	0.7837	1	0	0	exonic	exonic	exonic	PLCG2	PLCG2	ENSG00000197943	synonymous SNV	synonymous SNV	unknown	PLCG2:NM_002661:exon16:c.C1497T:p.A499A,	PLCG2:uc010chg.1:exon15:c.C1497T:p.A499A,PLCG2:uc002fgt.3:exon16:c.C1497T:p.A499A,	UNKNOWN	Het;C>T	722;46|36	Hom;C>T	1647;0|60
N	N	-	16	81962071	81962071	A	C	snp	intronic	 	 	 	 	PLCG2	Plcg2	ENSG00000197943	phospholipase C gamma 2	chr16:81772702-81991899	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]	Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction	Homozygotes for some null alleles show decreased B cell and impaired NK cell function.  Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCG2		https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600220	http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2	rs4366702	0.688898	0	0	1	0	0	intronic	intronic	intronic	PLCG2	PLCG2	ENSG00000197943	Na	Na	Na	Na	Na	Na	Het;A>C	267;4|10	Hom;A>C	156;0|5
N	N	-	16	82553932	82553932	A	G	snp	intergenic	 	 	 	 	AC009117.3																		rs6565030	0.812899	0	0	1	0	0	intergenic	intergenic	intergenic	MPHOSPH6(dist=350103),CDH13(dist=106467)	7SK(dist=327537),CDH13(dist=106467)	ENSG00000261285(dist=9408),ENSG00000261176(dist=33722)	Na	Na	Na	Na	Na	Na	Het;A>G	101;12|6	Hom;A>G	501;0|16
N	N	-	16	82862863	82862863	A	G	snp	ncRNA_intronic	 	 	 	 	LOC101928446																		rs2615137	0.884784	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101928446	CDH13	ENSG00000260862	Na	Na	Na	Na	Na	Na	Het;A>G	1271;47|55	Hom;A>G	2164;0|71
N	N	-	16	82862953	82862953	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101928446																		rs1903621	0.877995	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101928446	CDH13	ENSG00000260862	Na	Na	Na	Na	Na	Na	Het;G>C	2328;108|111	Hom;G>C	3656;0|130
N	N	-	16	83781919	83781919	T	C	snp	ncRNA_intronic	 	 	 	 	AC009063.2																		rs889490	0.176717	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CDH13	CDH13	ENSG00000260788	Na	Na	Na	Na	Na	Na	Het;T>C	534;48|22	Hom;T>C	2443;0|80
N	N	-	16	83816828	83816828	A	G	snp	intronic	 	 	 	 	CDH13	Cdh13	ENSG00000140945	cadherin 13	chr16:82660408-83830204	This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]	Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD	Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels.	Adherens junctions interactions	GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDH13	https://www.uniprot.org/uniprot/P55290		https://www.ncbi.nlm.nih.gov/omim/?term=601364	http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13	rs153654	0.849241	0.8599	0.8577	1	0	0	intronic	intronic	intronic	CDH13	CDH13	ENSG00000140945	Na	Na	Na	Na	Na	Na	Het;A>G	570;15|25	Hom;A>G	776;0|26
N	N	-	16	83837283	83837283	G	A	snp	ncRNA_exonic	 	 	 	 	LOC102724163																		rs40009	0.562899	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724163	CDH13(dist=7068),HSBP1(dist=4225)	ENSG00000260228	Na	Na	Na	Na	Na	Na	Het;G>A	228;29|14	Hom;G>A	763;0|28
N	N	-	16	83843067	83843068	CT	C	indel	intronic	 	 	 	 	HSBP1	Hsbp1	ENSG00000230989	heat shock factor binding protein 1	chr16:83841448-83853342	The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes.  Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response.  During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts  with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008]	smoking cessation	Homozygous null mice die at the perimplantation stage and embryoid bodies show disorganized germ layers and endoderm development abnormaliies.	HSF1-dependent transactivation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006936;muscle contraction;IEA|GO:0035987;endodermal cell differentiation;IEA|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005856;cytoskeleton;IEA	GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HSBP1			https://www.ncbi.nlm.nih.gov/omim/?term=604553	http://www.informatics.jax.org/searchtool/Search.do?query=HSBP1&submit=Quick%0D%19012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSBP1	rs149539074	0	0	0	1	0	0	intronic	intronic	intronic	HSBP1	HSBP1	ENSG00000230989	Na	Na	Na	Na	Na	Na	Het;-T	117;5|11	Hom;-T	217;1|10
N	N	-	16	84070053	84070053	C	G	snp	intronic	 	 	 	 	SLC38A8	Slc38a8	ENSG00000166558	solute carrier family 38 member 8	chr16:84043272-84076241	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]	Heart Rate; Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8		https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615585	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8	rs8053088	0.696885	0	0	1	0	0	intronic	intronic	intronic	SLC38A8	SLC38A8	ENSG00000166558	Na	Na	Na	Na	Na	Na	Het;C>G	44;2|2	Hom;C>G	175;0|6
N	N	-	16	84070143	84070143	C	G	snp	intronic	 	 	 	 	SLC38A8	Slc38a8	ENSG00000166558	solute carrier family 38 member 8	chr16:84043272-84076241	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]	Heart Rate; Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8		https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615585	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8	rs8053253	0.444289	0	0	1	0	0	intronic	intronic	intronic	SLC38A8	SLC38A8	ENSG00000166558	Na	Na	Na	Na	Na	Na	Het;C>G	599;15|19	Hom;C>G	616;0|17
N	N	-	16	84070238	84070238	C	A	snp	intronic	 	 	 	 	SLC38A8	Slc38a8	ENSG00000166558	solute carrier family 38 member 8	chr16:84043272-84076241	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]	Heart Rate; Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8		https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615585	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8	rs8057543	0.442692	0	0	1	0	0	intronic	intronic	intronic	SLC38A8	SLC38A8	ENSG00000166558	Na	Na	Na	Na	Na	Na	Het;C>A	1942;77|88	Hom;C>A	3316;0|119
N	N	-	16	84070500	84070500	C	G	snp	synonymous SNV	G195C	S65S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC38A8	Slc38a8	ENSG00000166558	solute carrier family 38 member 8	chr16:84043272-84076241	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]	Heart Rate; Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8		https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615585	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8	rs1317524	0.441094	0.3703	0.3784	1	0	0	exonic	exonic	exonic	SLC38A8	SLC38A8	ENSG00000166558	synonymous SNV	synonymous SNV	unknown	SLC38A8:NM_001080442:exon2:c.G195C:p.S65S,	SLC38A8:uc002fhg.1:exon2:c.G195C:p.S65S,	UNKNOWN	Het;C>G	1693;49|47	Hom;C>G	3396;1|80
N	N	-	16	84070510	84070510	G	A	snp	intronic	 	 	 	 	SLC38A8	Slc38a8	ENSG00000166558	solute carrier family 38 member 8	chr16:84043272-84076241	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]	Heart Rate; Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8		https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615585	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8	rs1876962	0.445687	0.3098	0.3866	1	0	0	intronic	intronic	intronic	SLC38A8	SLC38A8	ENSG00000166558	Na	Na	Na	Na	Na	Na	Het;G>A	1560;35|39	Hom;G>A	3242;1|74
N	N	-	16	84070514	84070514	A	C	snp	intronic	 	 	 	 	SLC38A8	Slc38a8	ENSG00000166558	solute carrier family 38 member 8	chr16:84043272-84076241	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]	Heart Rate; Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8		https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615585	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8	rs1876960	0.442093	0.2969	0.3850	1	0	0	intronic	intronic	intronic	SLC38A8	SLC38A8	ENSG00000166558	Na	Na	Na	Na	Na	Na	Het;A>C	1420;35|37	Hom;A>C	3252;1|74
N	N	-	16	84070628	84070628	A	G	snp	intronic	 	 	 	 	SLC38A8	Slc38a8	ENSG00000166558	solute carrier family 38 member 8	chr16:84043272-84076241	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]	Heart Rate; Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8		https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615585	http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8	rs2326159	0.443291	0	0	1	0	0	intronic	intronic	intronic	SLC38A8	SLC38A8	ENSG00000166558	Na	Na	Na	Na	Na	Na	Het;A>G	101;8|5	Hom;A>G	256;0|7
N	N	-	16	84089536	84089536	T	TG	indel	intronic	 	 	 	 	MBTPS1	Mbtps1	ENSG00000140943	membrane bound transcription factor peptidase, site 1	chr16:84087368-84150511	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a gene trap allele die prior to implantation.  Mice homozygous for an ENU-induced allele exhibit hypopigmentation, reduced female fertility, altered lipid homeostasis, and increased susceptibility to induced colitis.	Assembly of active LPL and LIPC lipase complexes	GO:0006508;proteolysis;TAS|GO:0006629;lipid metabolic process;IEA|GO:0007040;lysosome organization;IMP|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;TAS|GO:0031293;membrane protein intracellular domain proteolysis;ISS|GO:0034976;response to endoplasmic reticulum stress;ISS|GO:0036500;ATF6-mediated unfolded protein response;TAS|GO:0042990;regulation of transcription factor import into nucleus;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0051004;regulation of lipoprotein lipase activity;TAS	GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004175;endopeptidase activity;IEA|GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MBTPS1	https://www.uniprot.org/uniprot/Q14703		https://www.ncbi.nlm.nih.gov/omim/?term=603355	http://www.informatics.jax.org/searchtool/Search.do?query=MBTPS1&submit=Quick%0D%8093ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MBTPS1	rs11415464	0.733427	0	0	1	0	0	intronic	intronic	intronic	MBTPS1	MBTPS1	ENSG00000140943	Na	Na	Na	Na	Na	Na	Het;+G	232;1|10	Hom;+G	192;0|7
N	N	-	16	84121078	84121079	CA	C	indel	intronic	 	 	 	 	MBTPS1	Mbtps1	ENSG00000140943	membrane bound transcription factor peptidase, site 1	chr16:84087368-84150511	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a gene trap allele die prior to implantation.  Mice homozygous for an ENU-induced allele exhibit hypopigmentation, reduced female fertility, altered lipid homeostasis, and increased susceptibility to induced colitis.	Assembly of active LPL and LIPC lipase complexes	GO:0006508;proteolysis;TAS|GO:0006629;lipid metabolic process;IEA|GO:0007040;lysosome organization;IMP|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;TAS|GO:0031293;membrane protein intracellular domain proteolysis;ISS|GO:0034976;response to endoplasmic reticulum stress;ISS|GO:0036500;ATF6-mediated unfolded protein response;TAS|GO:0042990;regulation of transcription factor import into nucleus;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0051004;regulation of lipoprotein lipase activity;TAS	GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004175;endopeptidase activity;IEA|GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MBTPS1	https://www.uniprot.org/uniprot/Q14703		https://www.ncbi.nlm.nih.gov/omim/?term=603355	http://www.informatics.jax.org/searchtool/Search.do?query=MBTPS1&submit=Quick%0D%8093ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MBTPS1	rs398030055	0.533946	0	0.4245	1	0	0	intronic	intronic	intronic	MBTPS1	MBTPS1	ENSG00000140943	Na	Na	Na	Na	Na	Na	Het;-A	196;21|17	Hom;-A	235;1|14
N	N	-	16	84228199	84228199	G	T	snp	nonsynonymous SNV	C164A	S55Y	polar,hydrophilic,neutral	aromatic,polar,hydrophobic	AK123582																		rs11864937	0.279952	0.3403	0.2914	1	0	0	intronic	exonic	ncRNA_exonic	ADAD2	AK123582	ENSG00000250685	Na	nonsynonymous SNV	Na	Na	AK123582:uc002fhs.1:exon4:c.C164A:p.S55Y,	Na	Het;G>T	913;60|49	Hom;G>T	2011;0|80
N	N	-	16	84228305	84228305	C	G	snp	nonsynonymous SNV	G58C	V20L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AK123582																		rs11864916	0.29393	0	0.2846	1	0	0	intronic	exonic	ncRNA_exonic	ADAD2	AK123582	ENSG00000250685	Na	nonsynonymous SNV	Na	Na	AK123582:uc002fhs.1:exon4:c.G58C:p.V20L,	Na	Het;C>G	104;8|4	Hom;C>G	567;0|16
N	N	-	16	84228770	84228770	G	C	snp	nonsynonymous SNV	G703C	G235R	aliphatic,neutral	polar,hydrophilic,charged(+)	ADAD2	Adad2	ENSG00000140955	adenosine deaminase domain containing 2	chr16:84224744-84230774		Iron	 		GO:0006396;RNA processing;IEA		GO:0003723;RNA binding;IEA|GO:0004000;adenosine deaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAD2	https://www.uniprot.org/uniprot/Q8NCV1			http://www.informatics.jax.org/searchtool/Search.do?query=ADAD2&submit=Quick%0D%8097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAD2	rs11149631	0.276158	0.3383	0.2603	0.15	2	13	exonic	exonic	exonic	ADAD2	ADAD2	ENSG00000140955	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAD2:NM_001145400:exon4:c.G703C:p.G235R,ADAD2:NM_139174:exon5:c.G919C:p.G307R,	ADAD2:uc002fhr.2:exon4:c.G703C:p.G235R,ADAD2:uc002fhq.2:exon5:c.G919C:p.G307R,	UNKNOWN	Het;G>C	1000;52|49	Hom;G>C	2627;0|97
N	N	-	16	84230082	84230090	AACCCCTTC	A	indel	ncRNA_intronic	 	 	 	 	AC009123.1																		rs770359859	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ADAD2	ADAD2,AK123582	ENSG00000250685	Na	Na	Na	Na	Na	Na	Het;-ACCCCTTC	77;15|4	Hom;-ACCCCTTC	699;0|17
N	N	-	16	84230091	84230096	GCTCAA	G	indel	ncRNA_intronic	 	 	 	 	AC009123.1																		Na	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ADAD2	ADAD2,AK123582	ENSG00000250685	Na	Na	Na	Na	Na	Na	Het;-CTCAA	80;14|4	Hom;-CTCAA	699;0|17
N	N	-	16	84230376	84230376	T	C	snp	ncRNA_intronic	 	 	 	 	AC009123.1																		rs2303242	0.576677	0.5909	0.4651	1	0	0	intronic	intronic	ncRNA_intronic	ADAD2	ADAD2,AK123582	ENSG00000250685	Na	Na	Na	Na	Na	Na	Het;T>C	774;30|33	Hom;T>C	1686;0|56
N	N	-	16	84230500	84230500	A	C	snp	synonymous SNV	A1672C	R558R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ADAD2	Adad2	ENSG00000140955	adenosine deaminase domain containing 2	chr16:84224744-84230774		Iron	 		GO:0006396;RNA processing;IEA		GO:0003723;RNA binding;IEA|GO:0004000;adenosine deaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAD2	https://www.uniprot.org/uniprot/Q8NCV1			http://www.informatics.jax.org/searchtool/Search.do?query=ADAD2&submit=Quick%0D%8097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAD2	rs2303243	0.321086	0.3673	0.3084	1	0	0	exonic	exonic	exonic	ADAD2	ADAD2	ENSG00000140955	synonymous SNV	synonymous SNV	unknown	ADAD2:NM_001145400:exon10:c.A1672C:p.R558R,ADAD2:NM_139174:exon11:c.A1918C:p.R640R,	ADAD2:uc002fhr.2:exon10:c.A1672C:p.R558R,ADAD2:uc002fhq.2:exon11:c.A1918C:p.R640R,	UNKNOWN	Het;A>C	451;22|20	Hom;A>C	695;0|27
N	N	-	16	84486700	84486700	G	A	snp	intronic	 	 	 	 	ATP2C2	Atp2c2	ENSG00000064270	ATPase secretory pathway Ca2+ transporting 2	chr16:84402133-84497793		Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Migraine without Aura; ADHD | attention-deficit hyperactivity disorder	 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061180;mammary gland epithelium development;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072661;protein targeting to plasma membrane;IEA|GO:0090280;positive regulation of calcium ion import;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2C2	https://www.uniprot.org/uniprot/O75185		https://www.ncbi.nlm.nih.gov/omim/?term=613082	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2C2&submit=Quick%0D%1125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2C2	rs193704	0.555112	0.4270	0.5720	1	0	0	intronic	intronic	intronic	ATP2C2	ATP2C2	ENSG00000064270	Na	Na	Na	Na	Na	Na	Het;G>A	419;10|18	Hom;G>A	564;0|21
N	N	-	16	84492683	84492683	A	C	snp	intronic	 	 	 	 	ATP2C2	Atp2c2	ENSG00000064270	ATPase secretory pathway Ca2+ transporting 2	chr16:84402133-84497793		Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Migraine without Aura; ADHD | attention-deficit hyperactivity disorder	 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061180;mammary gland epithelium development;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072661;protein targeting to plasma membrane;IEA|GO:0090280;positive regulation of calcium ion import;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2C2	https://www.uniprot.org/uniprot/O75185		https://www.ncbi.nlm.nih.gov/omim/?term=613082	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2C2&submit=Quick%0D%1125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2C2	rs693552	0.441294	0.5202	0.4826	1	0	0	intronic	intronic	intronic	ATP2C2	ATP2C2	ENSG00000064270	Na	Na	Na	Na	Na	Na	Het;A>C	407;5|14	Hom;A>C	605;0|19
N	N	-	16	84493081	84493081	G	A	snp	ncRNA_exonic	 	 	 	 	ATP2C2-AS1																		rs437299	0.126797	0	0.2452	1	0	0	intronic	intronic	ncRNA_exonic	ATP2C2	ATP2C2	ENSG00000261286	Na	Na	Na	Na	Na	Na	Het;G>A	634;16|27	Hom;G>A	1026;0|36
N	N	-	16	84493216	84493216	T	C	snp	ncRNA_exonic	 	 	 	 	ATP2C2-AS1																		rs377261	0.31889	0	0.4208	1	0	0	intronic	UTR5	ncRNA_exonic	ATP2C2	ATP2C2(uc002fia.3:c.-778T>C)	ENSG00000261286	Na	Na	Na	Na	Na	Na	Het;T>C	102;11|8	Hom;T>C	706;0|28
N	N	-	16	84494450	84494450	G	A	snp	ncRNA_exonic	 	 	 	 	ATP2C2-AS1																		rs381467	0.390176	0.4520	0.4658	1	0	0	intronic	intronic	ncRNA_exonic	ATP2C2	ATP2C2	ENSG00000261286	Na	Na	Na	Na	Na	Na	Het;G>A	948;38|44	Hom;G>A	1460;0|50
N	N	-	16	84497169	84497169	G	A	snp	ncRNA_intronic	 	 	 	 	ATP2C2-AS1																		rs891258	0.229633	0.2117	0.2681	1	0	0	intronic	intronic	ncRNA_intronic	ATP2C2	ATP2C2	ENSG00000261286	Na	Na	Na	Na	Na	Na	Het;G>A	365;17|15	Hom;G>A	606;0|21
N	N	-	16	84813708	84813708	C	A	snp	downstream	 	 	 	 	USP10	Usp10	ENSG00000103194	ubiquitin specific peptidase 10	chr16:84733584-84813528	Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder; height; Luteinizing Hormone	Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA	GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USP10	https://www.uniprot.org/uniprot/Q14694		https://www.ncbi.nlm.nih.gov/omim/?term=609818	http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10	rs811330	0.637181	0	0	1	0	0	downstream	downstream	downstream	USP10	USP10	ENSG00000103194	Na	Na	Na	Na	Na	Na	Het;C>A	242;3|9	Hom;C>A	155;0|5
N	N	-	16	84842946	84842946	A	G	snp	intergenic	 	 	 	 	USP10	Usp10	ENSG00000103194	ubiquitin specific peptidase 10	chr16:84733584-84813528	Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder; height; Luteinizing Hormone	Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA	GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USP10	https://www.uniprot.org/uniprot/Q14694		https://www.ncbi.nlm.nih.gov/omim/?term=609818	http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10	rs9934611	0.648762	0	0	1	0	0	intergenic	intergenic	intergenic	USP10(dist=29419),CRISPLD2(dist=10641)	USP10(dist=29419),CRISPLD2(dist=10641)	ENSG00000103194(dist=29418),ENSG00000103196(dist=10644)	Na	Na	Na	Na	Na	Na	Het;A>G	259;9|11	Hom;A>G	282;0|10
N	N	-	16	84842977	84842977	G	A	snp	intergenic	 	 	 	 	USP10	Usp10	ENSG00000103194	ubiquitin specific peptidase 10	chr16:84733584-84813528	Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder; height; Luteinizing Hormone	Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA	GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USP10	https://www.uniprot.org/uniprot/Q14694		https://www.ncbi.nlm.nih.gov/omim/?term=609818	http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10	rs4572384	0.613818	0	0	1	0	0	intergenic	intergenic	intergenic	USP10(dist=29450),CRISPLD2(dist=10610)	USP10(dist=29450),CRISPLD2(dist=10610)	ENSG00000103194(dist=29449),ENSG00000103196(dist=10613)	Na	Na	Na	Na	Na	Na	Het;G>A	152;3|6	Hom;G>A	106;0|4
N	N	-	16	84940062	84940062	A	C	snp	intronic	 	 	 	 	CRISPLD2	Crispld2	ENSG00000103196	cysteine rich secretory protein LCCL domain containing 2	chr16:84853590-84954374		Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate	Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements.	Neutrophil degranulation	GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2	https://www.uniprot.org/uniprot/Q9H0B8		https://www.ncbi.nlm.nih.gov/omim/?term=612434	http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2	rs1874621	0.272963	0	0	1	0	0	intronic	intronic	intronic	CRISPLD2	CRISPLD2	ENSG00000103196	Na	Na	Na	Na	Na	Na	Het;A>C	72;2|3	Hom;A>C	176;0|5
N	N	-	16	85009970	85009970	A	G	snp	synonymous SNV	T906C	G302G	aliphatic,neutral	aliphatic,neutral	ZDHHC7	Zdhhc7	ENSG00000153786	zinc finger DHHC-type containing 7	chr16:85007787-85045141		height	 		GO:0018230;peptidyl-L-cysteine S-palmitoylation;IMP|GO:0018345;protein palmitoylation;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC7	https://www.uniprot.org/uniprot/Q9NXF8		https://www.ncbi.nlm.nih.gov/omim/?term=614604	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC7&submit=Quick%0D%9684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC7	rs7195377	0.701278	0.6435	0.5966	1	0	0	exonic	exonic	exonic	ZDHHC7	ZDHHC7	ENSG00000153786	synonymous SNV	synonymous SNV	unknown	ZDHHC7:NM_017740:exon8:c.T906C:p.G302G,ZDHHC7:NM_001145548:exon9:c.T1017C:p.G339G,	ZDHHC7:uc002fiq.2:exon8:c.T906C:p.G302G,ZDHHC7:uc010voi.1:exon9:c.T1017C:p.G339G,	UNKNOWN	Het;A>G	751;29|37	Hom;A>G	1150;0|44
N	N	-	16	85011423	85011424	CA	C	indel	intronic	 	 	 	 	ZDHHC7	Zdhhc7	ENSG00000153786	zinc finger DHHC-type containing 7	chr16:85007787-85045141		height	 		GO:0018230;peptidyl-L-cysteine S-palmitoylation;IMP|GO:0018345;protein palmitoylation;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC7	https://www.uniprot.org/uniprot/Q9NXF8		https://www.ncbi.nlm.nih.gov/omim/?term=614604	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC7&submit=Quick%0D%9684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC7	rs57465878	0.338858	0	0	1	0	0	intronic	intronic	intronic	ZDHHC7	ZDHHC7	ENSG00000153786	Na	Na	Na	Na	Na	Na	Het;-A	322;5|11	Hom;-A	300;0|9
N	N	-	16	85011480	85011480	T	C	snp	intronic	 	 	 	 	ZDHHC7	Zdhhc7	ENSG00000153786	zinc finger DHHC-type containing 7	chr16:85007787-85045141		height	 		GO:0018230;peptidyl-L-cysteine S-palmitoylation;IMP|GO:0018345;protein palmitoylation;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC7	https://www.uniprot.org/uniprot/Q9NXF8		https://www.ncbi.nlm.nih.gov/omim/?term=614604	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC7&submit=Quick%0D%9684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC7	rs8045409	0.699281	0.6397	0.5900	1	0	0	intronic	intronic	intronic	ZDHHC7	ZDHHC7	ENSG00000153786	Na	Na	Na	Na	Na	Na	Het;T>C	665;20|27	Hom;T>C	993;0|33
N	N	-	16	85011622	85011622	G	A	snp	intronic	 	 	 	 	ZDHHC7	Zdhhc7	ENSG00000153786	zinc finger DHHC-type containing 7	chr16:85007787-85045141		height	 		GO:0018230;peptidyl-L-cysteine S-palmitoylation;IMP|GO:0018345;protein palmitoylation;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC7	https://www.uniprot.org/uniprot/Q9NXF8		https://www.ncbi.nlm.nih.gov/omim/?term=614604	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC7&submit=Quick%0D%9684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC7	rs8044638	0.677316	0.6142	0.5833	1	0	0	intronic	intronic	intronic	ZDHHC7	ZDHHC7	ENSG00000153786	Na	Na	Na	Na	Na	Na	Het;G>A	941;43|44	Hom;G>A	2471;0|91
N	N	-	16	85023855	85023855	C	T	snp	intronic	 	 	 	 	ZDHHC7	Zdhhc7	ENSG00000153786	zinc finger DHHC-type containing 7	chr16:85007787-85045141		height	 		GO:0018230;peptidyl-L-cysteine S-palmitoylation;IMP|GO:0018345;protein palmitoylation;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC7	https://www.uniprot.org/uniprot/Q9NXF8		https://www.ncbi.nlm.nih.gov/omim/?term=614604	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC7&submit=Quick%0D%9684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC7	rs931713	0.694289	0	0	1	0	0	intronic	intronic	intronic	ZDHHC7	ZDHHC7	ENSG00000153786	Na	Na	Na	Na	Na	Na	Het;C>T	57;10|4	Hom;C>T	370;0|14
N	N	-	16	85120609	85120609	A	G	snp	intronic	 	 	 	 	KIAA0513	6430548M08Rik	ENSG00000135709	KIAA0513	chr16:85061375-85127836		Tobacco Use Disorder	 			GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA0513	https://www.uniprot.org/uniprot/O60268		https://www.ncbi.nlm.nih.gov/omim/?term=611675	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0513&submit=Quick%0D%7206ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0513	rs2291962	0.753994	0	0	1	0	0	intronic	intronic	intronic	KIAA0513	KIAA0513	ENSG00000135709	Na	Na	Na	Na	Na	Na	Het;A>G	194;8|8	Hom;A>G	451;0|14
N	N	-	16	85132776	85132776	A	G	snp	UTR3	*15T>C	 	 	 	FAM92B	Fam92b	ENSG00000153789	family with sequence similarity 92 member B	chr16:85131965-85146114		Waist Circumference; Crohn Disease|Ileal Diseases; Waist-Hip Ratio; Inflammatory Bowel Diseases; Colitis, Ulcerative|Crohn Disease|	 		GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM92B	https://www.uniprot.org/uniprot/Q6ZTR7		https://www.ncbi.nlm.nih.gov/omim/?term=617274	http://www.informatics.jax.org/searchtool/Search.do?query=FAM92B&submit=Quick%0D%9685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM92B	rs16975240	0.0820687	0.0602	0.0610	1	0	0	UTR3	UTR3	UTR3	FAM92B(NM_198491:c.*15T>C)	FAM92B(uc021tlz.1:c.*15T>C,uc021tma.1:c.*15T>C)	ENSG00000153789(ENST00000539556:c.*15T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	304;71|24	Hom;A>G	2634;0|98
N	N	-	16	85133872	85133872	G	C	snp	intronic	 	 	 	 	FAM92B	Fam92b	ENSG00000153789	family with sequence similarity 92 member B	chr16:85131965-85146114		Waist Circumference; Crohn Disease|Ileal Diseases; Waist-Hip Ratio; Inflammatory Bowel Diseases; Colitis, Ulcerative|Crohn Disease|	 		GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM92B	https://www.uniprot.org/uniprot/Q6ZTR7		https://www.ncbi.nlm.nih.gov/omim/?term=617274	http://www.informatics.jax.org/searchtool/Search.do?query=FAM92B&submit=Quick%0D%9685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM92B	rs3764278	0.383786	0.3184	0.3166	1	0	0	intronic	intronic	intronic	FAM92B	FAM92B	ENSG00000153789	Na	Na	Na	Na	Na	Na	Het;G>C	788;31|37	Hom;G>C	2299;0|84
N	N	-	16	85139173	85139173	G	T	snp	intronic	 	 	 	 	FAM92B	Fam92b	ENSG00000153789	family with sequence similarity 92 member B	chr16:85131965-85146114		Waist Circumference; Crohn Disease|Ileal Diseases; Waist-Hip Ratio; Inflammatory Bowel Diseases; Colitis, Ulcerative|Crohn Disease|	 		GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM92B	https://www.uniprot.org/uniprot/Q6ZTR7		https://www.ncbi.nlm.nih.gov/omim/?term=617274	http://www.informatics.jax.org/searchtool/Search.do?query=FAM92B&submit=Quick%0D%9685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM92B	rs8050910	0.602236	0	0	1	0	0	intronic	intronic	intronic	FAM92B	FAM92B	ENSG00000153789	Na	Na	Na	Na	Na	Na	Het;G>T	48;5|3	Hom;G>T	187;0|6
N	N	-	16	85145800	85145800	C	G	snp	intronic	 	 	 	 	FAM92B	Fam92b	ENSG00000153789	family with sequence similarity 92 member B	chr16:85131965-85146114		Waist Circumference; Crohn Disease|Ileal Diseases; Waist-Hip Ratio; Inflammatory Bowel Diseases; Colitis, Ulcerative|Crohn Disease|	 		GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM92B	https://www.uniprot.org/uniprot/Q6ZTR7		https://www.ncbi.nlm.nih.gov/omim/?term=617274	http://www.informatics.jax.org/searchtool/Search.do?query=FAM92B&submit=Quick%0D%9685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM92B	rs60296580	0.364018	0	0	1	0	0	intronic	intronic	intronic	FAM92B	FAM92B	ENSG00000153789	Na	Na	Na	Na	Na	Na	Het;C>G	73;1|4	Hom;C>G	198;0|7
N	N	-	16	85145977	85145977	T	C	snp	UTR5	-19A>G	 	 	 	FAM92B	Fam92b	ENSG00000153789	family with sequence similarity 92 member B	chr16:85131965-85146114		Waist Circumference; Crohn Disease|Ileal Diseases; Waist-Hip Ratio; Inflammatory Bowel Diseases; Colitis, Ulcerative|Crohn Disease|	 		GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM92B	https://www.uniprot.org/uniprot/Q6ZTR7		https://www.ncbi.nlm.nih.gov/omim/?term=617274	http://www.informatics.jax.org/searchtool/Search.do?query=FAM92B&submit=Quick%0D%9685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM92B	rs9931038	0.414936	0.5294	0.4423	1	0	0	UTR5	UTR5	UTR5	FAM92B(NM_198491:c.-19A>G)	FAM92B(uc021tlz.1:c.-19A>G,uc021tma.1:c.-19A>G)	ENSG00000153789(ENST00000539556:c.-19A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	950;46|45	Hom;T>C	2242;2|87
N	N	-	16	85181723	85181723	A	T	snp	ncRNA_exonic	 	 	 	 	LOC400548																		rs8049045	0.672923	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC400548	LOC400548	ENSG00000153789(dist=35609),ENSG00000262601(dist=23159)	Na	Na	Na	Na	Na	Na	Het;A>T	55;14|5	Hom;A>T	533;0|19
N	N	-	16	85181955	85181955	T	C	snp	ncRNA_exonic	 	 	 	 	LOC400548																		rs9933007	0.64996	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC400548	LOC400548	ENSG00000153789(dist=35841),ENSG00000262601(dist=22927)	Na	Na	Na	Na	Na	Na	Het;T>C	1313;63|57	Hom;T>C	4275;2|150
N	N	-	16	85182961	85182961	G	T	snp	ncRNA_exonic	 	 	 	 	LOC400548																		rs7197468	0.397165	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC400548	LOC400548	ENSG00000153789(dist=36847),ENSG00000262601(dist=21921)	Na	Na	Na	Na	Na	Na	Het;G>T	1629;88|76	Hom;G>T	3455;0|126
N	N	-	16	85275835	85275835	T	C	snp	intergenic	 	 	 	 	ENSG00000262601																		rs7498262	0.309105	0	0	1	0	0	intergenic	intergenic	intergenic	LOC400548(dist=92786),LINC00311(dist=40729)	LOC400548(dist=92786),LINC00311(dist=40729)	ENSG00000262601(dist=56866),ENSG00000270313(dist=36591)	Na	Na	Na	Na	Na	Na	Het;T>C	128;2|6	Hom;T>C	94;0|4
N	N	-	16	8576614	8576614	T	C	snp	ncRNA_exonic	 	 	 	 	AC074052.2																		rs62020588	0.471645	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RBFOX1(dist=813274),TMEM114(dist=10957)	RBFOX1(dist=813274),TMEM114(dist=42888)	ENSG00000261066	Na	Na	Na	Na	Na	Na	Het;T>C	902;34|41	Hom;T>C	1581;0|56
N	N	-	16	8576642	8576642	G	C	snp	ncRNA_exonic	 	 	 	 	AC074052.2																		rs62020589	0.623203	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RBFOX1(dist=813302),TMEM114(dist=10929)	RBFOX1(dist=813302),TMEM114(dist=42860)	ENSG00000261066	Na	Na	Na	Na	Na	Na	Het;G>C	686;25|33	Hom;G>C	1278;0|45
N	N	-	16	8576670	8576670	T	C	snp	ncRNA_exonic	 	 	 	 	AC074052.2																		rs62020590	0.565695	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RBFOX1(dist=813330),TMEM114(dist=10901)	RBFOX1(dist=813330),TMEM114(dist=42832)	ENSG00000261066	Na	Na	Na	Na	Na	Na	Het;T>C	533;19|25	Hom;T>C	872;0|30
N	N	-	16	8576777	8576777	C	T	snp	ncRNA_intronic	 	 	 	 	AC074052.2																		rs66809417	0.572284	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	RBFOX1(dist=813437),TMEM114(dist=10794)	RBFOX1(dist=813437),TMEM114(dist=42725)	ENSG00000261066	Na	Na	Na	Na	Na	Na	Het;C>T	34;2|2	Hom;C>T	227;0|7
N	N	-	16	86001374	86001374	C	G	snp	intergenic	 	 	 	 	LINC02132																		rs74032515	0.0982428	0	0	1	0	0	intergenic	intergenic	intergenic	IRF8(dist=45163),LINC01082(dist=228413)	IRF8(dist=45163),LOC146513(dist=318663)	ENSG00000268804(dist=31545),ENSG00000269667(dist=13982)	Na	Na	Na	Na	Na	Na	Het;C>G	47;4|4	Hom;C>G	154;0|6
N	N	-	16	86147749	86147749	T	G	snp	intergenic	 	 	 	 	AC135012.1																		rs11648051	0.606829	0	0	1	0	0	intergenic	intergenic	intergenic	IRF8(dist=191538),LINC01082(dist=82038)	IRF8(dist=191538),LOC146513(dist=172288)	ENSG00000261177(dist=24617),ENSG00000268078(dist=44063)	Na	Na	Na	Na	Na	Na	Het;T>G	86;4|5	Hom;T>G	397;0|15
N	N	-	16	86147887	86147887	C	T	snp	intergenic	 	 	 	 	AC135012.1																		rs12446545	0.490415	0	0	1	0	0	intergenic	intergenic	intergenic	IRF8(dist=191676),LINC01082(dist=81900)	IRF8(dist=191676),LOC146513(dist=172150)	ENSG00000261177(dist=24755),ENSG00000268078(dist=43925)	Na	Na	Na	Na	Na	Na	Het;C>T	155;2|8	Hom;C>T	275;0|11
N	N	-	16	86417324	86417324	T	C	snp	intergenic	 	 	 	 	LINC00917																		rs8047465	0.575879	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00917(dist=38039),FENDRR(dist=90807)	LINC00917(dist=38039),FENDRR(dist=90807)	ENSG00000168367(dist=34035),ENSG00000268473(dist=51112)	Na	Na	Na	Na	Na	Na	Het;T>C	35;4|2	Hom;T>C	152;0|4
N	N	-	16	86508191	86508191	T	C	snp	ncRNA_exonic	 	 	 	 	FENDRR																		rs4843381	0.501997	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FENDRR	FENDRR	ENSG00000268388	Na	Na	Na	Na	Na	Na	Het;T>C	31;6|2	Hom;T>C	325;0|11
N	N	-	16	86508283	86508283	T	A	snp	ncRNA_exonic	 	 	 	 	FENDRR																		rs4843963	0.650759	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FENDRR	FENDRR	ENSG00000268388	Na	Na	Na	Na	Na	Na	Het;T>A	574;41|28	Hom;T>A	2157;0|80
N	N	-	16	86511709	86511709	A	ATGTCAAGTGAGGAC	indel	ncRNA_intronic	 	 	 	 	FENDRR																		rs11275097	0.707867	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FENDRR	FENDRR	ENSG00000268388	Na	Na	Na	Na	Na	Na	Het;+TGTCAAGTGAGGAC	632;19|18	Hom;+TGTCAAGTGAGGAC	969;0|25
N	N	-	16	86564267	86564267	A	T	snp	UTR3	*1350T>A	 	 	 	MTHFSD	Mthfsd	ENSG00000103248	methenyltetrahydrofolate synthetase domain containing	chr16:86563782-86588841		smoking cessation; Type 2 Diabetes| edema | rosiglitazone	 		GO:0008298;intracellular mRNA localization;IBA	GO:0005737;cytoplasm;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MTHFSD	https://www.uniprot.org/uniprot/Q2M296		https://www.ncbi.nlm.nih.gov/omim/?term=616820	http://www.informatics.jax.org/searchtool/Search.do?query=MTHFSD&submit=Quick%0D%2992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFSD	rs1046991	0.360623	0	0	1	0	0	UTR3	UTR3	UTR3	MTHFSD(NM_001159380:c.*1350T>A,NM_001159379:c.*1350T>A,NM_022764:c.*1350T>A,NM_001159378:c.*1350T>A,NM_001159377:c.*1350T>A)	MTHFSD(uc002fjo.3:c.*1350T>A,uc002fjm.3:c.*1350T>A,uc002fjn.3:c.*1350T>A,uc010voo.2:c.*1350T>A,uc010vop.2:c.*1350T>A,uc010voq.2:c.*1350T>A,uc010vor.2:c.*1350T>A)	ENSG00000103248(ENST00000360900:c.*1350T>A,ENST00000322911:c.*1350T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	847;24|39	Hom;A>T	1191;0|43
N	N	-	16	86590430	86590430	G	T	snp	ncRNA_exonic	 	 	 	 	FLJ30679																		rs7189970	0.452476	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	FLJ30679	FLJ30679(uc010vos.1:c.*1086G>T)	ENSG00000103248(dist=1589),ENSG00000260944(dist=8321)	Na	Na	Na	Na	Na	Na	Het;G>T	1000;51|45	Hom;G>T	2315;2|86
N	N	-	16	86590891	86590891	A	T	snp	ncRNA_exonic	 	 	 	 	FLJ30679																		rs7197427	0.513379	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	FLJ30679	FLJ30679(uc010vos.1:c.*1547A>T)	ENSG00000103248(dist=2050),ENSG00000260944(dist=7860)	Na	Na	Na	Na	Na	Na	Het;A>T	299;16|17	Hom;A>T	1179;0|49
N	N	-	16	87839745	87839745	C	T	snp	ncRNA_intronic	 	 	 	 	AC126696.1																		rs12448625	0.497204	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC102724467(dist=26991),SLC7A5(dist=23884)	KLHDC4(dist=40147),SLC7A5(dist=23884)	ENSG00000260177	Na	Na	Na	Na	Na	Na	Het;C>T	182;8|10	Hom;C>T	1007;0|23
N	N	-	16	87870312	87870312	C	T	snp	ncRNA_exonic	 	 	 	 	AC126696.2																		rs12444670	0.239617	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SLC7A5	SLC7A5	ENSG00000260466	Na	Na	Na	Na	Na	Na	Het;C>T	289;15|15	Hom;C>T	1123;0|41
N	N	-	16	87870379	87870379	A	G	snp	ncRNA_exonic	 	 	 	 	AC126696.2																		rs16943320	0.241214	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SLC7A5	SLC7A5	ENSG00000260466	Na	Na	Na	Na	Na	Na	Het;A>G	31;7|3	Hom;A>G	299;0|9
N	N	-	16	87871366	87871366	G	C	snp	intronic	 	 	 	 	SLC7A5	Slc7a5	ENSG00000103257	solute carrier family 7 member 5	chr16:87863629-87903094		melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation die prenatally.	Tryptophan catabolism	GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5	https://www.uniprot.org/uniprot/Q01650		https://www.ncbi.nlm.nih.gov/omim/?term=600182	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5	rs3815559	0.242013	0	0	1	0	0	intronic	intronic	intronic	SLC7A5	SLC7A5	ENSG00000103257	Na	Na	Na	Na	Na	Na	Het;G>C	120;1|5	Hom;G>C	322;0|11
N	N	-	16	87871582	87871582	G	A	snp	intronic	 	 	 	 	SLC7A5	Slc7a5	ENSG00000103257	solute carrier family 7 member 5	chr16:87863629-87903094		melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation die prenatally.	Tryptophan catabolism	GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5	https://www.uniprot.org/uniprot/Q01650		https://www.ncbi.nlm.nih.gov/omim/?term=600182	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5	rs2287120	0.239217	0.2333	0.3035	1	0	0	intronic	intronic	intronic	SLC7A5	SLC7A5	ENSG00000103257	Na	Na	Na	Na	Na	Na	Het;G>A	220;18|12	Hom;G>A	1141;0|40
N	N	-	16	87872488	87872488	G	A	snp	intronic	 	 	 	 	SLC7A5	Slc7a5	ENSG00000103257	solute carrier family 7 member 5	chr16:87863629-87903094		melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation die prenatally.	Tryptophan catabolism	GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5	https://www.uniprot.org/uniprot/Q01650		https://www.ncbi.nlm.nih.gov/omim/?term=600182	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5	rs2287122	0.239217	0	0	1	0	0	intronic	intronic	intronic	SLC7A5	SLC7A5	ENSG00000103257	Na	Na	Na	Na	Na	Na	Het;G>A	1951;68|89	Hom;G>A	4132;2|142
N	N	-	16	87873577	87873577	A	G	snp	intronic	 	 	 	 	SLC7A5	Slc7a5	ENSG00000103257	solute carrier family 7 member 5	chr16:87863629-87903094		melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation die prenatally.	Tryptophan catabolism	GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5	https://www.uniprot.org/uniprot/Q01650		https://www.ncbi.nlm.nih.gov/omim/?term=600182	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5	rs12927136	0.263379	0	0	1	0	0	intronic	intronic	intronic	SLC7A5	SLC7A5	ENSG00000103257	Na	Na	Na	Na	Na	Na	Het;A>G	141;6|5	Hom;A>G	135;0|4
N	N	-	16	87874107	87874112	TATATG	T	indel	intronic	 	 	 	 	SLC7A5	Slc7a5	ENSG00000103257	solute carrier family 7 member 5	chr16:87863629-87903094		melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation die prenatally.	Tryptophan catabolism	GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5	https://www.uniprot.org/uniprot/Q01650		https://www.ncbi.nlm.nih.gov/omim/?term=600182	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5	rs113883650	0.239217	0.2274	0.2455	1	0	0	intronic	intronic	intronic	SLC7A5	SLC7A5	ENSG00000103257	Na	Na	Na	Na	Na	Na	Het;-ATATG	941;17|25	Hom;-ATATG	1183;1|29
N	N	-	16	87874182	87874182	T	C	snp	intronic	 	 	 	 	SLC7A5	Slc7a5	ENSG00000103257	solute carrier family 7 member 5	chr16:87863629-87903094		melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation die prenatally.	Tryptophan catabolism	GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5	https://www.uniprot.org/uniprot/Q01650		https://www.ncbi.nlm.nih.gov/omim/?term=600182	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5	rs12931876	0.242013	0	0	1	0	0	intronic	intronic	intronic	SLC7A5	SLC7A5	ENSG00000103257	Na	Na	Na	Na	Na	Na	Het;T>C	102;4|5	Hom;T>C	228;0|9
N	N	-	16	88132864	88132864	T	C	snp	downstream	 	 	 	 	LOC400553																		rs9888801	0.600639	0	0	1	0	0	downstream	intronic	ncRNA_intronic	LOC400553	AK126852	ENSG00000205037	Na	Na	Na	Na	Na	Na	Het;T>C	65;2|4	Hom;T>C	95;0|3
N	N	-	16	88228199	88228199	C	T	snp	ncRNA_intronic	 	 	 	 	LOC101928880																		rs72820520	0.245407	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928880	AK126852(dist=93634),ZNF469(dist=265680)	ENSG00000260420	Na	Na	Na	Na	Na	Na	Het;C>T	384;13|16	Hom;C>T	653;0|23
N	N	-	16	88237091	88237091	A	G	snp	intergenic	 	 	 	 	LINC02182																		rs11117383	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928880(dist=8268),ZNF469(dist=256788)	AK126852(dist=102526),ZNF469(dist=256788)	ENSG00000260420(dist=8268),ENSG00000261273(dist=31300)	Na	Na	Na	Na	Na	Na	Het;A>G	64;2|3	Hom;A>G	139;0|4
N	N	-	16	8841834	8841834	G	T	snp	intronic	 	 	 	 	ABAT	Abat	ENSG00000183044	4-aminobutyrate aminotransferase	chr16:8768422-8878432	4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia	 	Degradation of GABA	GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABAT		https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137150	http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT	rs8055737	0.301318	0	0	1	0	0	intronic	intronic	intronic	ABAT	ABAT	ENSG00000183044	Na	Na	Na	Na	Na	Na	Het;G>T	248;4|9	Hom;G>T	415;0|13
N	N	-	16	88506287	88506287	G	GGCCTCCTCCCTCTGACCACAGGGTCAT	indel	UTR3	*547G>GGCCTCCTCCCTCTGACCACAGGGTCAT	 	 	 	ZNF469	Gm22	ENSG00000225614	zinc finger protein 469	chr16:88493879-88507165	This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]	Blind Vision|Blindness|Corneal Diseases|Syndrome	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF469		https://hpo.jax.org/app/browse/search?q=ZNF469&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612078	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF469&submit=Quick%0D%18623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF469	rs3838248	0.396765	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF469(NM_001127464:c.*547G>GGCCTCCTCCCTCTGACCACAGGGTCAT)	ZNF469(uc002fku.2:c.*547G>GGCCTCCTCCCTCTGACCACAGGGTCAT)	ENSG00000225614(ENST00000437464:c.*547G>GGCCTCCTCCCTCTGACCACAGGGTCAT,ENST00000565624:c.*547G>GGCCTCCTCCCTCTGACCACAGGGTCAT)	Na	Na	Na	Na	Na	Na	Het;+GCCTCCTCCCTCTGACCACAGGGTCAT	1038;2|28	Hom;+GCCTCCTCCCTCTGACCACAGGGTCAT	629;0|13
N	N	-	16	88576095	88576095	A	G	snp	intronic	 	 	 	 	ZFPM1	Zfpm1	ENSG00000179588	zinc finger protein, FOG family member 1	chr16:88519725-88603424		lung cancer ; bladder cancer; lung cancer; chronic obstructive pulmonary disease	Homozygous mutants have poorly vascularized yolk sacs and small, pale livers. Mutants die between embryonic days 10.5 and 12.5 with severe anemia associated with a block in megakaryocyte development.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002295;T-helper cell lineage commitment;IC|GO:0003151;outflow tract morphogenesis;IEA|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003192;mitral valve formation;IEA|GO:0003195;tricuspid valve formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0010724;regulation of definitive erythrocyte differentiation;IDA|GO:0030218;erythrocyte differentiation;IEA|GO:0030219;megakaryocyte differentiation;IEA|GO:0030220;platelet formation;IGI|GO:0030851;granulocyte differentiation;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032642;regulation of chemokine production;IEA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035855;megakaryocyte development;IEA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;IDA|GO:0045403;negative regulation of interleukin-4 biosynthetic process;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060318;definitive erythrocyte differentiation;IEA|GO:0060319;primitive erythrocyte differentiation;IEA|GO:0060377;negative regulation of mast cell differentiation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060413;atrial septum morphogenesis;IEA|GO:0071733;transcriptional activation by promoter-enhancer looping;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA|GO:0017053;transcriptional repressor complex;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFPM1			https://www.ncbi.nlm.nih.gov/omim/?term=601950	http://www.informatics.jax.org/searchtool/Search.do?query=ZFPM1&submit=Quick%0D%14358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFPM1	rs58282231	0.230431	0	0	1	0	0	intronic	intronic	intronic	ZFPM1	ZFPM1	ENSG00000179588	Na	Na	Na	Na	Na	Na	Het;A>G	53;2|4	Hom;A>G	153;0|6
N	N	-	16	88721012	88721012	G	A	snp	intronic	 	 	 	 	MVD	Mvd	ENSG00000167508	mevalonate diphosphate decarboxylase	chr16:88718343-88729569	The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels	 	Synthesis of Dolichyl-phosphate	GO:0006489;dolichyl diphosphate biosynthetic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0016126;sterol biosynthetic process;IEA|GO:0019287;isopentenyl diphosphate biosynthetic process, mevalonate pathway;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004163;diphosphomevalonate decarboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MVD		https://hpo.jax.org/app/browse/search?q=MVD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603236	http://www.informatics.jax.org/searchtool/Search.do?query=MVD&submit=Quick%0D%12023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MVD	rs12935454	0.508586	0	0	1	0	0	intronic	intronic	intronic	MVD	MVD	ENSG00000167508	Na	Na	Na	Na	Na	Na	Het;G>A	495;15|20	Hom;G>A	1073;0|36
N	N	-	16	88724347	88724347	G	T	snp	synonymous SNV	C232A	R78R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MVD	Mvd	ENSG00000167508	mevalonate diphosphate decarboxylase	chr16:88718343-88729569	The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels	 	Synthesis of Dolichyl-phosphate	GO:0006489;dolichyl diphosphate biosynthetic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0016126;sterol biosynthetic process;IEA|GO:0019287;isopentenyl diphosphate biosynthetic process, mevalonate pathway;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004163;diphosphomevalonate decarboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MVD		https://hpo.jax.org/app/browse/search?q=MVD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603236	http://www.informatics.jax.org/searchtool/Search.do?query=MVD&submit=Quick%0D%12023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MVD	rs2279258	0.498403	0.5506	0.6058	1	0	0	exonic	exonic	exonic	MVD	MVD	ENSG00000167508	synonymous SNV	synonymous SNV	unknown	MVD:NM_002461:exon3:c.C232A:p.R78R,	MVD:uc002flg.1:exon3:c.C232A:p.R78R,	UNKNOWN	Het;G>T	886;31|41	Hom;G>T	1830;1|71
N	N	-	16	88729788	88729788	C	T	snp	ncRNA_exonic	 	 	 	 	SNAI3-AS1																		rs3794628	0.177316	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNAI3-AS1	SNAI3-AS1	ENSG00000260630	Na	Na	Na	Na	Na	Na	Het;C>T	865;41|42	Hom;C>T	1801;2|72
N	N	-	16	88739988	88739988	G	T	snp	ncRNA_exonic	 	 	 	 	SNAI3-AS1																		rs11076696	0.260184	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	SNAI3-AS1	SNAI3-AS1	ENSG00000260630	Na	Na	Na	Na	Na	Na	Het;G>T	409;32|21	Hom;G>T	1597;0|58
N	N	-	16	88740084	88740084	C	T	snp	ncRNA_exonic	 	 	 	 	SNAI3-AS1																		rs11076697	0.253994	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNAI3-AS1	SNAI3-AS1	ENSG00000260630	Na	Na	Na	Na	Na	Na	Het;C>T	1051;78|52	Hom;C>T	4163;0|156
N	N	-	16	88766168	88766168	C	T	snp	UTR5	-43G>A	 	 	 	RNF166	Rnf166	ENSG00000158717	ring finger protein 166	chr16:88762903-88772829			 		GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA	GO:0005622;intracellular;IBA	GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNF166			https://www.ncbi.nlm.nih.gov/omim/?term=617178	http://www.informatics.jax.org/searchtool/Search.do?query=RNF166&submit=Quick%0D%10243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF166	rs55780854	0.229633	0.2498	0.2787	1	0	0	intronic	intronic	UTR5	RNF166	RNF166	ENSG00000158717(ENST00000568683:c.-43G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	313;42|19	Hom;C>T	1361;0|54
N	N	-	16	88767769	88767769	G	C	snp	synonymous SNV	C213G	L71L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RNF166	Rnf166	ENSG00000158717	ring finger protein 166	chr16:88762903-88772829			 		GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA	GO:0005622;intracellular;IBA	GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNF166			https://www.ncbi.nlm.nih.gov/omim/?term=617178	http://www.informatics.jax.org/searchtool/Search.do?query=RNF166&submit=Quick%0D%10243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF166	rs2306049	0.388379	0.4939	0.4881	1	0	0	exonic	exonic	exonic	RNF166	RNF166	ENSG00000158717	synonymous SNV	synonymous SNV	unknown	RNF166:NM_178841:exon2:c.C213G:p.L71L,	RNF166:uc002flk.3:exon2:c.C213G:p.L71L,	UNKNOWN	Het;G>C	721;47|38	Hom;G>C	2967;0|107
N	N	-	16	88767861	88767861	C	G	snp	intronic	 	 	 	 	RNF166	Rnf166	ENSG00000158717	ring finger protein 166	chr16:88762903-88772829			 		GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA	GO:0005622;intracellular;IBA	GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNF166			https://www.ncbi.nlm.nih.gov/omim/?term=617178	http://www.informatics.jax.org/searchtool/Search.do?query=RNF166&submit=Quick%0D%10243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF166	rs2306048	0.503395	0.5336	0.5515	1	0	0	intronic	intronic	intronic	RNF166	RNF166	ENSG00000158717	Na	Na	Na	Na	Na	Na	Het;C>G	243;16|11	Hom;C>G	1180;0|38
N	N	-	16	88793103	88793103	C	G	snp	intronic	 	 	 	 	PIEZO1	Piezo1	ENSG00000103335	piezo type mechanosensitive ion channel component 1	chr16:88781751-88851619	The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]	Arteries	Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1	https://www.uniprot.org/uniprot/Q92508	https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611184	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1	rs4424896	0.882987	0	0.8160	1	0	0	intronic	intronic	intronic	PIEZO1	PIEZO1	ENSG00000103335	Na	Na	Na	Na	Na	Na	Het;C>G	1279;6|52	Hom;C>G	3787;0|91
N	N	-	16	88928961	88928961	C	CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG	indel	UTR3	*1594C>CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG	 	 	 	TRAPPC2L	Trappc2l	ENSG00000167515	trafficking protein particle complex 2 like	chr16:88922628-88929094	This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]		 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC2L		https://hpo.jax.org/app/browse/search?q=TRAPPC2L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610970	http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC2L&submit=Quick%0D%12025ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC2L	rs71158762	0.330072	0	0	1	0	0	downstream	intronic	UTR3	PABPN1L	PABPN1L	ENSG00000167515(ENST00000301021:c.*1594C>CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG,ENST00000565504:c.*2229C>CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG)	Na	Na	Na	Na	Na	Na	Het;+CTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG	1126;61|39	Hom;+CTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG	2880;1|51
N	N	-	16	88931363	88931363	A	AGGGAG	indel	intronic	 	 	 	 	PABPN1L	Pabpn1l	ENSG00000205022	poly(A) binding protein nuclear 1 like, cytoplasmic	chr16:88928034-88933068			 			GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L				http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L	rs141563331	0	0.4440	0.3966	1	0	0	intronic	intronic	intronic	PABPN1L	PABPN1L	ENSG00000205022	Na	Na	Na	Na	Na	Na	Het;+GGGAG	933;26|24	Hom;+GGGAG	1744;0|35
N	N	-	16	88931914	88931914	T	C	snp	intronic	 	 	 	 	PABPN1L	Pabpn1l	ENSG00000205022	poly(A) binding protein nuclear 1 like, cytoplasmic	chr16:88928034-88933068			 			GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L				http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L	rs889753	0.522564	0	0	1	0	0	intronic	intronic	intronic	PABPN1L	PABPN1L	ENSG00000205022	Na	Na	Na	Na	Na	Na	Het;T>C	755;23|33	Hom;T>C	1190;0|42
N	N	-	16	88977291	88977291	T	TGCCCCCA	indel	intronic	 	 	 	 	CBFA2T3	Cbfa2t3	ENSG00000129993	CBFA2/RUNX1 translocation partner 3	chr16:88941266-89043612	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]	Glucose	Mice that are homozygote null for this gene display skewing of the early myeloid progenitor cells toward the granulocytic/macrophage lineage while reducing the numbers of megakaryocyte-erythroid progenitor cells.		GO:0001666;response to hypoxia;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;TAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0030154;cell differentiation;IEA|GO:0030851;granulocyte differentiation;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0045820;negative regulation of glycolytic process;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:1903715;regulation of aerobic respiration;IDA	GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CBFA2T3	https://www.uniprot.org/uniprot/O75081		https://www.ncbi.nlm.nih.gov/omim/?term=603870	http://www.informatics.jax.org/searchtool/Search.do?query=CBFA2T3&submit=Quick%0D%6302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBFA2T3	rs150548756	0.144369	0	0	1	0	0	intronic	intronic	intronic	CBFA2T3	CBFA2T3	ENSG00000129993	Na	Na	Na	Na	Na	Na	Het;+GCCCCCA	38;3|2	Hom;+GCCCCCA	233;0|6
N	N	-	16	89167140	89167140	G	C	snp	synonymous SNV	G51C	A17A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ACSF3	Acsf3	ENSG00000176715	acyl-CoA synthetase family member 3	chr16:89154783-89222254	This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]	Acquired Immunodeficiency Syndrome|Disease Progression; Hemoglobin A, Glycosylated	 	Synthesis of very long-chain fatty acyl-CoAs	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0006633;fatty acid biosynthetic process;IDA|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0090410;malonate catabolic process;IDA	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016878;acid-thiol ligase activity;IDA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0090409;malonyl-CoA synthetase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ACSF3		https://hpo.jax.org/app/browse/search?q=ACSF3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614245	http://www.informatics.jax.org/searchtool/Search.do?query=ACSF3&submit=Quick%0D%13899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF3	rs7201122	0.849241	0.9152	0.8806	1	0	0	exonic	exonic	exonic	ACSF3	ACSF3	ENSG00000176715	synonymous SNV	synonymous SNV	unknown	ACSF3:NM_001127214:exon2:c.G51C:p.A17A,ACSF3:NM_001243279:exon3:c.G51C:p.A17A,ACSF3:NM_174917:exon3:c.G51C:p.A17A,	ACSF3:uc002fmp.3:exon3:c.G51C:p.A17A,ACSF3:uc021tmq.1:exon3:c.G51C:p.A17A,ACSF3:uc010cig.2:exon2:c.G51C:p.A17A,	UNKNOWN	Het;G>C	1909;83|83	Hom;G>C	4426;0|160
N	N	-	16	89650371	89650371	T	G	snp	intronic	 	 	 	 	CPNE7	Cpne7	ENSG00000178773	copine 7	chr16:89642176-89663654	This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Suntan; Pancreatic Neoplasms; Heart Failure	 	Glycerophospholipid biosynthesis	GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CPNE7			https://www.ncbi.nlm.nih.gov/omim/?term=605689	http://www.informatics.jax.org/searchtool/Search.do?query=CPNE7&submit=Quick%0D%14230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE7	rs408800	0.819688	0	0	1	0	0	intronic	intronic	intronic	CPNE7	CPNE7	ENSG00000178773	Na	Na	Na	Na	Na	Na	Het;T>G	244;26|12	Hom;T>G	484;1|19
N	N	-	16	89656251	89656251	T	C	snp	intronic	 	 	 	 	CPNE7	Cpne7	ENSG00000178773	copine 7	chr16:89642176-89663654	This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Suntan; Pancreatic Neoplasms; Heart Failure	 	Glycerophospholipid biosynthesis	GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CPNE7			https://www.ncbi.nlm.nih.gov/omim/?term=605689	http://www.informatics.jax.org/searchtool/Search.do?query=CPNE7&submit=Quick%0D%14230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE7	rs464349	0.59365	0.5129	0	1	0	0	intronic	intronic	intronic	CPNE7	CPNE7	ENSG00000178773	Na	Na	Na	Na	Na	Na	Het;T>C	139;10|7	Hom;T>C	249;0|10
N	N	-	16	89793555	89793555	T	C	snp	intronic	 	 	 	 	ZNF276	Zfp276	ENSG00000158805	zinc finger protein 276	chr16:89786808-89807311			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF276			https://www.ncbi.nlm.nih.gov/omim/?term=608460	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276	rs2099105	0.795727	0	0	1	0	0	intronic	intronic	intronic	ZNF276	ZNF276	ENSG00000158805	Na	Na	Na	Na	Na	Na	Het;T>C	34;6|3	Hom;T>C	329;0|9
N	N	-	16	8995177	8995180	GAAA	G	indel	intronic	 	 	 	 	USP7	Usp7	ENSG00000187555	ubiquitin specific peptidase 7	chr16:8985951-9058371	The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]	prostate cancer; Tobacco Use Disorder; fertility; Hypertrophy, Left Ventricular; Heart Failure	Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology.	Regulation of PTEN localization	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0010216;maintenance of DNA methylation;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;ISS|GO:0050821;protein stabilization;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:1904353;regulation of telomere capping;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IEA	GO:0002039;p53 binding;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/USP7			https://www.ncbi.nlm.nih.gov/omim/?term=602519	http://www.informatics.jax.org/searchtool/Search.do?query=USP7&submit=Quick%0D%15844ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP7	rs199579856	0.319289	0	0	1	0	0	intronic	intronic	intronic	USP7	USP7	ENSG00000187555	Na	Na	Na	Na	Na	Na	Het;-AAA	319;6|9	Hom;-AAA	309;2|8
N	N	-	16	90020861	90020861	C	T	snp	intronic	 	 	 	 	DEF8	Def8	ENSG00000140995	differentially expressed in FDCP 8 homolog	chr16:90014333-90034468			 		GO:0035556;intracellular signal transduction;IEA	GO:0005622;intracellular;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DEF8	https://www.uniprot.org/uniprot/Q6ZN54			http://www.informatics.jax.org/searchtool/Search.do?query=DEF8&submit=Quick%0D%8107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEF8	rs7195043	0.673522	0	0	1	0	0	intronic	intronic	intronic	DEF8	DEF8	ENSG00000140995	Na	Na	Na	Na	Na	Na	Het;C>T	371;15|17	Hom;C>T	656;0|23
N	N	-	16	90109711	90109711	A	G	snp	synonymous SNV	A1395G	T465T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GAS8	Gas8	ENSG00000141013	growth arrest specific 8	chr16:90086037-90111383	This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]	Heart Failure	Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function.	Activation of SMO	GO:0003351;epithelial cilium movement;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0034613;cellular protein localization;IEA|GO:0035082;axoneme assembly;IEA|GO:0048870;cell motility;IEA|GO:0060294;cilium movement involved in cell motility;IMP|GO:1904526;regulation of microtubule binding;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0031514;motile cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097729;9+2 motile cilium;IEA	GO:0003674;molecular_function;ND|GO:0008017;microtubule binding;IEA|GO:0017137;Rab GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GAS8	https://www.uniprot.org/uniprot/O95995	https://hpo.jax.org/app/browse/search?q=GAS8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605178	http://www.informatics.jax.org/searchtool/Search.do?query=GAS8&submit=Quick%0D%8110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS8	rs3743825	0.844249	0.8292	0.7945	1	0	0	exonic	exonic	exonic	GAS8	GAS8	ENSG00000141013	synonymous SNV	synonymous SNV	unknown	GAS8:NM_001481:exon11:c.A1395G:p.T465T,GAS8:NM_001286208:exon10:c.A819G:p.T273T,GAS8:NM_001286205:exon11:c.A1146G:p.T382T,GAS8:NM_001286209:exon11:c.A1320G:p.T440T,	GAS8:uc002fqi.1:exon11:c.A1395G:p.T465T,GAS8:uc002fqj.1:exon10:c.A819G:p.T273T,GAS8:uc010vpw.1:exon11:c.A1146G:p.T382T,GAS8:uc010vps.1:exon11:c.A1320G:p.T440T,GAS8:uc010cjc.1:exon11:c.A1146G:p.T382T,GAS8:uc002fqh.2:exon11:c.A1146G:p.T382T,	UNKNOWN	Het;A>G	1520;61|67	Hom;A>G	3450;0|122
N	N	-	16	90109756	90109756	G	GC	indel	ncRNA_exonic	 	 	 	 	URAHP	 																	rs3833069	0.48742	0.3656	0.3686	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	URAHP	GAS8(uc010vps.1:c.*3G>GC,uc002fqh.2:c.*3G>GC,uc010cjc.1:c.*3G>GC,uc002fqi.1:c.*3G>GC,uc010vpw.1:c.*3G>GC,uc002fqj.1:c.*3G>GC),LOC100130015(uc010cjd.3:c.*237C>GC)	ENSG00000222019	Na	Na	Na	Na	Na	Na	Het;+C	1498;54|61	Hom;+C	4088;0|133
N	N	-	16	90110027	90110027	G	A	snp	nonsynonymous SNV	C479T	P160L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC100130015																		rs3743824	0.578075	0	0.4783	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	URAHP	LOC100130015	ENSG00000222019	Na	nonsynonymous SNV	Na	Na	LOC100130015:uc010cjd.3:exon4:c.C479T:p.P160L,	Na	Het;G>A	1813;63|76	Hom;G>A	3665;0|128
N	N	-	16	90110289	90110289	C	A	snp	nonsynonymous SNV	G217T	V73F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	LOC100130015																		rs1048148	0.58127	0	0.4339	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	URAHP	LOC100130015	ENSG00000222019	Na	nonsynonymous SNV	Na	Na	LOC100130015:uc002fql.3:exon4:c.G217T:p.V73F,LOC100130015:uc010cjd.3:exon4:c.G217T:p.V73F,	Na	Het;C>A	1082;58|54	Hom;C>A	3186;0|90
N	N	-	16	90282115	90282115	A	AT	indel	ncRNA_exonic	 	 	 	 	LINC02193																		rs370407699	0	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	FAM157C(dist=38101),NONE(dist=NONE)	BC071667	ENSG00000260923	Na	Na	Na	Na	Na	Na	Het;+T	341;8|23	Hom;+T	265;1|15
N	N	-	17	10216510	10216510	G	A	snp	synonymous SNV	C4146T	D1382D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MYH13	Myh13	ENSG00000006788	myosin heavy chain 13	chr17:10201401-10276447		Tobacco Use Disorder; Alzheimer's disease ; Celiac Disease|	 	Translocation of GLUT4 to the plasma membrane	GO:0006936;muscle contraction;TAS	GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH13	https://www.uniprot.org/uniprot/Q9UKX3		https://www.ncbi.nlm.nih.gov/omim/?term=603487	http://www.informatics.jax.org/searchtool/Search.do?query=MYH13&submit=Quick%0D%424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH13	rs4791401	0.305312	0.3841	0.3596	1	0	0	exonic	exonic	exonic	MYH13	MYH13	ENSG00000006788	synonymous SNV	synonymous SNV	unknown	MYH13:NM_003802:exon30:c.C4146T:p.D1382D,	MYH13:uc002gmk.1:exon30:c.C4146T:p.D1382D,	UNKNOWN	Het;G>A	473;22|22	Hom;G>A	777;1|28
N	N	-	17	10222061	10222061	G	A	snp	intronic	 	 	 	 	MYH13	Myh13	ENSG00000006788	myosin heavy chain 13	chr17:10201401-10276447		Tobacco Use Disorder; Alzheimer's disease ; Celiac Disease|	 	Translocation of GLUT4 to the plasma membrane	GO:0006936;muscle contraction;TAS	GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH13	https://www.uniprot.org/uniprot/Q9UKX3		https://www.ncbi.nlm.nih.gov/omim/?term=603487	http://www.informatics.jax.org/searchtool/Search.do?query=MYH13&submit=Quick%0D%424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH13	rs2074872	0.308307	0.3832	0.3623	1	0	0	intronic	intronic	intronic	MYH13	MYH13	ENSG00000006788	Na	Na	Na	Na	Na	Na	Het;G>A	895;31|40	Hom;G>A	1307;0|48
N	N	-	17	10243589	10243589	C	A	snp	ncRNA_intronic	 	 	 	 	AC005291.1																		rs4445936	0.754792	0.7874	0.8072	1	0	0	intronic	intronic	ncRNA_intronic	MYH13	MYH13	ENSG00000264067	Na	Na	Na	Na	Na	Na	Het;C>A	3002;178|147	Hom;C>A	7572;1|283
N	N	-	17	10243717	10243717	G	A	snp	synonymous SNV	C1896T	G632G	aliphatic,neutral	aliphatic,neutral	MYH13	Myh13	ENSG00000006788	myosin heavy chain 13	chr17:10201401-10276447		Tobacco Use Disorder; Alzheimer's disease ; Celiac Disease|	 	Translocation of GLUT4 to the plasma membrane	GO:0006936;muscle contraction;TAS	GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH13	https://www.uniprot.org/uniprot/Q9UKX3		https://www.ncbi.nlm.nih.gov/omim/?term=603487	http://www.informatics.jax.org/searchtool/Search.do?query=MYH13&submit=Quick%0D%424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH13	rs3760423	0.763978	0.7884	0.8124	1	0	0	exonic	exonic	exonic	MYH13	MYH13	ENSG00000006788	synonymous SNV	synonymous SNV	unknown	MYH13:NM_003802:exon17:c.C1896T:p.G632G,	MYH13:uc002gmk.1:exon17:c.C1896T:p.G632G,	UNKNOWN	Het;G>A	2252;115|107	Hom;G>A	6649;2|255
N	N	-	17	10243789	10243789	T	C	snp	ncRNA_intronic	 	 	 	 	AC005291.1																		rs3760424	0.754992	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYH13	MYH13	ENSG00000264067	Na	Na	Na	Na	Na	Na	Het;T>C	703;44|31	Hom;T>C	2168;1|72
N	N	-	17	10243858	10243858	C	T	snp	ncRNA_intronic	 	 	 	 	AC005291.1																		rs3760425	0.752796	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MYH13	MYH13	ENSG00000264067	Na	Na	Na	Na	Na	Na	Het;C>T	128;14|6	Hom;C>T	480;1|16
N	N	-	17	10249888	10249888	G	GA	indel	intronic	 	 	 	 	MYH13	Myh13	ENSG00000006788	myosin heavy chain 13	chr17:10201401-10276447		Tobacco Use Disorder; Alzheimer's disease ; Celiac Disease|	 	Translocation of GLUT4 to the plasma membrane	GO:0006936;muscle contraction;TAS	GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH13	https://www.uniprot.org/uniprot/Q9UKX3		https://www.ncbi.nlm.nih.gov/omim/?term=603487	http://www.informatics.jax.org/searchtool/Search.do?query=MYH13&submit=Quick%0D%424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH13	rs34168540	0.758387	0	0	1	0	0	intronic	intronic	intronic	MYH13	MYH13	ENSG00000006788	Na	Na	Na	Na	Na	Na	Het;+A	289;7|12	Hom;+A	702;0|22
N	N	-	17	10258153	10258154	GT	G	indel	intronic	 	 	 	 	MYH13	Myh13	ENSG00000006788	myosin heavy chain 13	chr17:10201401-10276447		Tobacco Use Disorder; Alzheimer's disease ; Celiac Disease|	 	Translocation of GLUT4 to the plasma membrane	GO:0006936;muscle contraction;TAS	GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH13	https://www.uniprot.org/uniprot/Q9UKX3		https://www.ncbi.nlm.nih.gov/omim/?term=603487	http://www.informatics.jax.org/searchtool/Search.do?query=MYH13&submit=Quick%0D%424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH13	rs3214260	0.00439297	0	0	1	0	0	intronic	intronic	intronic	MYH13	MYH13	ENSG00000006788	Na	Na	Na	Na	Na	Na	Het;-T	1629;51|48	Hom;-T	4341;0|103
N	N	-	17	10258155	10258155	T	C	snp	intronic	 	 	 	 	MYH13	Myh13	ENSG00000006788	myosin heavy chain 13	chr17:10201401-10276447		Tobacco Use Disorder; Alzheimer's disease ; Celiac Disease|	 	Translocation of GLUT4 to the plasma membrane	GO:0006936;muscle contraction;TAS	GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH13	https://www.uniprot.org/uniprot/Q9UKX3		https://www.ncbi.nlm.nih.gov/omim/?term=603487	http://www.informatics.jax.org/searchtool/Search.do?query=MYH13&submit=Quick%0D%424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH13	rs5010940	0.00439297	0	0	1	0	0	intronic	intronic	intronic	MYH13	MYH13	ENSG00000006788	Na	Na	Na	Na	Na	Na	Het;T>C	972;60|46	Hom;T>C	2494;3|90
N	N	-	17	10297658	10297658	A	G	snp	nonsynonymous SNV	T5074C	W1692R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	MYH8	Myh8	ENSG00000133020	myosin heavy chain 8	chr17:10293639-10325267	Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Clubfoot	 	Striated Muscle Contraction	GO:0003009;skeletal muscle contraction;IMP|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;NAS|GO:0030049;muscle filament sliding;TAS|GO:0046034;ATP metabolic process;IMP	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;NAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IC|GO:0032982;myosin filament;IC	GO:0000146;microfilament motor activity;IMP|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IMP|GO:0008307;structural constituent of muscle;NAS|GO:0016887;ATPase activity;IMP|GO:0017018;myosin phosphatase activity;TAS|GO:0032027;myosin light chain binding;TAS|GO:0051015;actin filament binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MYH8	https://www.uniprot.org/uniprot/P13535	https://hpo.jax.org/app/browse/search?q=MYH8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160741	http://www.informatics.jax.org/searchtool/Search.do?query=MYH8&submit=Quick%0D%6778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH8	rs8069834	0.485423	0.6297	0.5096	0.08	1	13	exonic	exonic	exonic	MYH8	MYH8	ENSG00000133020	nonsynonymous SNV	nonsynonymous SNV	unknown	MYH8:NM_002472:exon35:c.T5074C:p.W1692R,	MYH8:uc002gmm.2:exon35:c.T5074C:p.W1692R,	UNKNOWN	Het;A>G	452;17|20	Hom;A>G	1071;1|39
N	N	-	17	10309962	10309962	C	T	snp	ncRNA_intronic	 	 	 	 	AK097500																		rs2024076	0.531749	0.6640	0.5607	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	MYHAS	AK097500	ENSG00000272736,ENSG00000272975	Na	Na	Na	Na	Na	Na	Het;C>T	209;15|12	Hom;C>T	605;0|21
N	N	-	17	10698734	10698734	G	T	snp	ncRNA_exonic	 	 	 	 	LINC00675		ENSG00000263429		chr17:10698230-10707416						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LINC00675				http://www.informatics.jax.org/searchtool/Search.do?query=LINC00675&submit=Quick%0D%20569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00675	rs11653544	0.351438	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00675	LINC00675	ENSG00000263429	Na	Na	Na	Na	Na	Na	Het;G>T	962;41|43	Hom;G>T	2968;0|103
N	N	-	17	10698754	10698754	T	A	snp	ncRNA_exonic	 	 	 	 	LINC00675		ENSG00000263429		chr17:10698230-10707416						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LINC00675				http://www.informatics.jax.org/searchtool/Search.do?query=LINC00675&submit=Quick%0D%20569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00675	rs1867271	0.425519	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00675	LINC00675	ENSG00000263429	Na	Na	Na	Na	Na	Na	Het;T>A	1057;48|48	Hom;T>A	3552;0|122
N	N	-	17	10705806	10705806	G	C	snp	nonsynonymous SNV	G178C	V60L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM220-AS1																		rs4792034	0.888778	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	TMEM220-AS1	TMEM220-AS1	ENSG00000263400	Na	nonsynonymous SNV	Na	Na	TMEM220-AS1:uc031qzb.1:exon2:c.G178C:p.V60L,	Na	Het;G>C	1599;93|75	Hom;G>C	4641;0|168
N	N	-	17	10707285	10707285	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00675		ENSG00000263429		chr17:10698230-10707416						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LINC00675				http://www.informatics.jax.org/searchtool/Search.do?query=LINC00675&submit=Quick%0D%20569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00675	rs1550656	0.676318	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00675	LINC00675	ENSG00000263429	Na	Na	Na	Na	Na	Na	Het;C>T	1463;58|65	Hom;C>T	3067;0|114
N	N	-	17	11216861	11216861	C	G	snp	intronic	 	 	 	 	SHISA6	Shisa6	ENSG00000188803	shisa family member 6	chr17:11144580-11467380		Body Mass Index; Iron; Hemoglobin A, Glycosylated; Tobacco Use Disorder; Body Height	Homozygous knockout has no gross phenotypic effect.		GO:0048172;regulation of short-term neuronal synaptic plasticity;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0045202;synapse;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SHISA6			https://www.ncbi.nlm.nih.gov/omim/?term=617327	http://www.informatics.jax.org/searchtool/Search.do?query=SHISA6&submit=Quick%0D%16114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHISA6	rs34970193	0.270767	0	0	1	0	0	intronic	intronic	intronic	SHISA6	SHISA6	ENSG00000188803	Na	Na	Na	Na	Na	Na	Het;C>G	750;32|36	Hom;C>G	2603;2|92
N	N	-	17	11380290	11380290	C	T	snp	intronic	 	 	 	 	SHISA6	Shisa6	ENSG00000188803	shisa family member 6	chr17:11144580-11467380		Body Mass Index; Iron; Hemoglobin A, Glycosylated; Tobacco Use Disorder; Body Height	Homozygous knockout has no gross phenotypic effect.		GO:0048172;regulation of short-term neuronal synaptic plasticity;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0045202;synapse;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SHISA6			https://www.ncbi.nlm.nih.gov/omim/?term=617327	http://www.informatics.jax.org/searchtool/Search.do?query=SHISA6&submit=Quick%0D%16114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHISA6	rs2969223	0.248802	0	0	1	0	0	intronic	intronic	intronic	SHISA6	SHISA6	ENSG00000188803	Na	Na	Na	Na	Na	Na	Het;C>T	382;20|19	Hom;C>T	933;0|38
N	N	-	17	11555990	11555990	T	C	snp	intronic	 	 	 	 	DNAH9	Dnah9	ENSG00000007174	dynein axonemal heavy chain 9	chr17:11501748-11873065	This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Potassium; Carotid Artery Diseases; Body Weight Changes; Echocardiography; Tobacco Use Disorder	 		GO:0003341;cilium movement;IEA|GO:0007018;microtubule-based movement;IEA|GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH9	https://www.uniprot.org/uniprot/Q9NYC9	https://hpo.jax.org/app/browse/search?q=DNAH9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603330	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH9&submit=Quick%0D%433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH9	rs4792159	0.65595	0	0	1	0	0	intronic	intronic	intronic	DNAH9	DNAH9	ENSG00000007174	Na	Na	Na	Na	Na	Na	Het;T>C	268;8|10	Hom;T>C	295;0|8
N	N	-	17	11648332	11648332	C	T	snp	synonymous SNV	C4212T	N1404N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DNAH9	Dnah9	ENSG00000007174	dynein axonemal heavy chain 9	chr17:11501748-11873065	This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Potassium; Carotid Artery Diseases; Body Weight Changes; Echocardiography; Tobacco Use Disorder	 		GO:0003341;cilium movement;IEA|GO:0007018;microtubule-based movement;IEA|GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH9	https://www.uniprot.org/uniprot/Q9NYC9	https://hpo.jax.org/app/browse/search?q=DNAH9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603330	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH9&submit=Quick%0D%433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH9	rs3744578	0.770168	0.7359	0.7938	1	0	0	exonic	exonic	exonic	DNAH9	DNAH9	ENSG00000007174	synonymous SNV	synonymous SNV	unknown	DNAH9:NM_001372:exon31:c.C6330T:p.N2110N,	DNAH9:uc010coo.3:exon19:c.C4212T:p.N1404N,DNAH9:uc002gne.3:exon31:c.C6330T:p.N2110N,	UNKNOWN	Het;C>T	1027;65|54	Hom;C>T	3513;0|133
N	N	-	17	11648444	11648444	T	C	snp	intronic	 	 	 	 	DNAH9	Dnah9	ENSG00000007174	dynein axonemal heavy chain 9	chr17:11501748-11873065	This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Potassium; Carotid Artery Diseases; Body Weight Changes; Echocardiography; Tobacco Use Disorder	 		GO:0003341;cilium movement;IEA|GO:0007018;microtubule-based movement;IEA|GO:0030030;cell projection organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH9	https://www.uniprot.org/uniprot/Q9NYC9	https://hpo.jax.org/app/browse/search?q=DNAH9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603330	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH9&submit=Quick%0D%433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH9	rs3744580	0.6252	0.6109	0.6775	1	0	0	intronic	intronic	intronic	DNAH9	DNAH9	ENSG00000007174	Na	Na	Na	Na	Na	Na	Het;T>C	690;49|31	Hom;T>C	2035;0|65
N	N	-	17	11886864	11886864	T	C	snp	intronic	 	 	 	 	ZNF18	Zkscan6	ENSG00000154957	zinc finger protein 18	chr17:11880756-11900827			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF18	https://www.uniprot.org/uniprot/P17022		https://www.ncbi.nlm.nih.gov/omim/?term=194524	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF18&submit=Quick%0D%9825ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF18	rs17613212	0.448283	0	0	1	0	0	intronic	intronic	intronic	ZNF18	ZNF18	ENSG00000154957	Na	Na	Na	Na	Na	Na	Het;T>C	65;1|3	Hom;T>C	142;0|5
N	N	-	17	1264198	1264198	G	C	snp	intronic	 	 	 	 	YWHAE	Ywhae	ENSG00000274474	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	chr17:1247566-1303672	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]	suicide; breast cancer	Mice homozygous for disruptions of this gene usually die around birth.  The small percentage of survivors are small in size and display central nervous system abnormalities including a thinner cortex and a disorganized pyramidal cell layer in the hippocampus.	RAB GEFs exchange GTP for GDP on RABs	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000165;MAPK cascade;IDA|GO:0003064;regulation of heart rate by hormone;NAS|GO:0016032;viral process;IEA|GO:0021762;substantia nigra development;IEP|GO:0034605;cellular response to heat;IDA|GO:0035329;hippo signaling;TAS|GO:0035556;intracellular signal transduction;TAS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046827;positive regulation of protein export from nucleus;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;IDA|GO:0060306;regulation of membrane repolarization;IDA|GO:0061024;membrane organization;TAS|GO:0086013;membrane repolarization during cardiac muscle cell action potential;IC|GO:0086091;regulation of heart rate by cardiac conduction;IC|GO:0097711;ciliary basal body docking;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901016;regulation of potassium ion transmembrane transporter activity;IDA|GO:1901020;negative regulation of calcium ion transmembrane transporter activity;IDA|GO:1902309;negative regulation of peptidyl-serine dephosphorylation;IDA|GO:1905913;negative regulation of calcium ion export from cell;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0042470;melanosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005246;calcium channel regulator activity;IDA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044325;ion channel binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0050815;phosphoserine binding;IPI|GO:0051219;phosphoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/YWHAE	https://www.uniprot.org/uniprot/P62258	https://hpo.jax.org/app/browse/search?q=YWHAE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605066	http://www.informatics.jax.org/searchtool/Search.do?query=YWHAE&submit=Quick%0D%21125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAE	rs11655176	0.72484	0	0	1	0	0	intronic	intronic	intronic	YWHAE	YWHAE	ENSG00000108953	Na	Na	Na	Na	Na	Na	Het;G>C	48;1|2	Hom;G>C	220;0|6
N	N	-	17	12647490	12647490	T	C	snp	intronic	 	 	 	 	MYOCD	Myocd	ENSG00000141052	myocardin	chr17:12569207-12672266	This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Body Height; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Hip; Opioid-Related Disorders	Mice homozygous for a null mutation exhibit embryonic lethality and fail to form vascular smooth muscle.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001560;regulation of cell growth by extracellular stimulus;IEA|GO:0001570;vasculogenesis;IEA|GO:0001666;response to hypoxia;IEP|GO:0003231;cardiac ventricle development;IEA|GO:0003257;positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0035051;cardiocyte differentiation;NAS|GO:0035065;regulation of histone acetylation;IEA|GO:0035886;vascular smooth muscle cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043954;cellular component maintenance;IEA|GO:0045661;regulation of myoblast differentiation;IEA|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0045987;positive regulation of smooth muscle contraction;IDA|GO:0048286;lung alveolus development;IEA|GO:0048565;digestive tract development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051145;smooth muscle cell differentiation;IMP|GO:0051150;regulation of smooth muscle cell differentiation;TAS|GO:0051152;positive regulation of smooth muscle cell differentiation;IDA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055012;ventricular cardiac muscle cell differentiation;IEA|GO:0060065;uterus development;IEA|GO:0060157;urinary bladder development;IEA|GO:0097070;ductus arteriosus closure;IEA|GO:1900222;negative regulation of beta-amyloid clearance;IMP|GO:1900239;regulation of phenotypic switching;IEA|GO:1901228;positive regulation of transcription from RNA polymerase II promoter involved in heart development;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IEA|GO:1904753;negative regulation of vascular associated smooth muscle cell migration;IEA|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;IEA|GO:2000721;positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation;IDA|GO:2000724;positive regulation of cardiac vascular smooth muscle cell differentiation;ISS|GO:2000727;positive regulation of cardiac muscle cell differentiation;IEA|GO:2001015;negative regulation of skeletal muscle cell differentiation;IDA	GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA	GO:0000987;core promoter proximal region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001076;transcription factor activity, RNA polymerase II transcription factor binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001105;RNA polymerase II transcription coactivator activity;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003713;transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0035035;histone acetyltransferase binding;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0070412;R-SMAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYOCD	https://www.uniprot.org/uniprot/Q8IZQ8		https://www.ncbi.nlm.nih.gov/omim/?term=606127	http://www.informatics.jax.org/searchtool/Search.do?query=MYOCD&submit=Quick%0D%8116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOCD	rs12709295	0.755791	0.8149	0.8101	1	0	0	intronic	intronic	intronic	MYOCD	MYOCD	ENSG00000141052,ENSG00000273452	Na	Na	Na	Na	Na	Na	Het;T>C	807;35|37	Hom;T>C	1266;0|44
N	N	-	17	1265064	1265064	A	C	snp	intronic	 	 	 	 	YWHAE	Ywhae	ENSG00000274474	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	chr17:1247566-1303672	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]	suicide; breast cancer	Mice homozygous for disruptions of this gene usually die around birth.  The small percentage of survivors are small in size and display central nervous system abnormalities including a thinner cortex and a disorganized pyramidal cell layer in the hippocampus.	RAB GEFs exchange GTP for GDP on RABs	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000165;MAPK cascade;IDA|GO:0003064;regulation of heart rate by hormone;NAS|GO:0016032;viral process;IEA|GO:0021762;substantia nigra development;IEP|GO:0034605;cellular response to heat;IDA|GO:0035329;hippo signaling;TAS|GO:0035556;intracellular signal transduction;TAS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046827;positive regulation of protein export from nucleus;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;IDA|GO:0060306;regulation of membrane repolarization;IDA|GO:0061024;membrane organization;TAS|GO:0086013;membrane repolarization during cardiac muscle cell action potential;IC|GO:0086091;regulation of heart rate by cardiac conduction;IC|GO:0097711;ciliary basal body docking;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901016;regulation of potassium ion transmembrane transporter activity;IDA|GO:1901020;negative regulation of calcium ion transmembrane transporter activity;IDA|GO:1902309;negative regulation of peptidyl-serine dephosphorylation;IDA|GO:1905913;negative regulation of calcium ion export from cell;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0042470;melanosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005246;calcium channel regulator activity;IDA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044325;ion channel binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0050815;phosphoserine binding;IPI|GO:0051219;phosphoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/YWHAE	https://www.uniprot.org/uniprot/P62258	https://hpo.jax.org/app/browse/search?q=YWHAE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605066	http://www.informatics.jax.org/searchtool/Search.do?query=YWHAE&submit=Quick%0D%21125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAE	rs3752826	0.72504	0	0	1	0	0	intronic	intronic	intronic	YWHAE	YWHAE	ENSG00000108953	Na	Na	Na	Na	Na	Na	Het;A>C	203;1|6	Hom;A>C	194;0|7
N	N	-	17	12855719	12855719	G	A	snp	intronic	 	 	 	 	ARHGAP44	Arhgap44	ENSG00000006740	Rho GTPase activating protein 44	chr17:12692856-12894960		Echocardiography; Pulse	Mice homozygous for a knock-out allele exhibit increased brain weight, abnormal dendritic spine morphology, hypoactivity, increased self-grooming behavior, abnormal response to novel objects, and impaired motor learning.	Rho GTPase cycle	GO:0006887;exocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0098886;modification of dendritic spine;IEA|GO:0098887;neurotransmitter receptor transport, endosome to postsynaptic membrane;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0030054;cell junction;IEA|GO:0031256;leading edge membrane;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0055037;recycling endosome;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0048365;Rac GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP44	https://www.uniprot.org/uniprot/Q17R89			http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP44&submit=Quick%0D%419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP44	rs2072253	0.536142	0	0	1	0	0	intronic	intronic	intronic	ARHGAP44	ARHGAP44	ENSG00000006740	Na	Na	Na	Na	Na	Na	Het;G>A	171;3|6	Hom;G>A	165;0|5
N	N	-	17	12898295	12898295	T	C	snp	synonymous SNV	A777G	T259T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ELAC2	Elac2																	rs17552022	0.0503195	0.0918	0.0992	1	0	0	exonic	exonic	exonic	ELAC2	ELAC2	ENSG00000006744	synonymous SNV	synonymous SNV	unknown	ELAC2:NM_001165962:exon19:c.A1773G:p.T591T,ELAC2:NM_018127:exon20:c.A1893G:p.T631T,ELAC2:NM_173717:exon20:c.A1890G:p.T630T,	ELAC2:uc002gnv.4:exon9:c.A777G:p.T259T,ELAC2:uc010vvo.2:exon15:c.A1287G:p.T429T,ELAC2:uc002gnz.4:exon20:c.A1893G:p.T631T,ELAC2:uc010vvq.2:exon20:c.A1890G:p.T630T,ELAC2:uc010vvr.2:exon19:c.A1773G:p.T591T,ELAC2:uc002gnx.4:exon12:c.A1173G:p.T391T,ELAC2:uc010vvp.3:exon20:c.A1791G:p.T597T,	UNKNOWN	Het;T>C	1247;38|58	Hom;T>C	1985;0|73
N	N	-	17	12903599	12903599	A	G	snp	intronic	 	 	 	 	ELAC2	Elac2																	rs3760316	0.286342	0.3282	0.3035	1	0	0	intronic	intronic	intronic	ELAC2	ELAC2	ENSG00000006744	Na	Na	Na	Na	Na	Na	Het;A>G	1156;26|47	Hom;A>G	1574;2|55
N	N	-	17	1359363	1359363	T	G	snp	synonymous SNV	A49C	R17R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CRK	Crk	ENSG00000167193	CRK proto-oncogene, adaptor protein	chr17:1323983-1366456	This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008]	plasma HDL cholesterol (HDL-C) levels	Mice homozygous for an isoform specific knockout do not exhibit any obvious abnormalities.  Mice homozygous of a null allele of both isoforms exhibit fetal and perinatal lethality associated with abnormal cardiovascular morphology.	Regulation of signaling by CBL	GO:0000186;activation of MAPKK activity;TAS|GO:0001878;response to yeast;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0008360;regulation of cell shape;IMP|GO:0009966;regulation of signal transduction;IDA|GO:0009967;positive regulation of signal transduction;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0035020;regulation of Rac protein signal transduction;IEA|GO:0035728;response to hepatocyte growth factor;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042542;response to hydrogen peroxide;IEA|GO:0043087;regulation of GTPase activity;IDA|GO:0043393;regulation of protein binding;IMP|GO:0045953;negative regulation of natural killer cell mediated cytotoxicity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IDA|GO:0061045;negative regulation of wound healing;IDA|GO:0061847;response to cholecystokinin;IEA|GO:0071538;SH2 domain-mediated complex assembly;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071732;cellular response to nitric oxide;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901652;response to peptide;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990859;cellular response to endothelin;IEA|GO:2000146;negative regulation of cell motility;IDA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0043234;protein complex;IPI|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0017124;SH3 domain binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030674;protein binding, bridging;IEA|GO:0042169;SH2 domain binding;IPI|GO:0043621;protein self-association;IDA|GO:0045309;protein phosphorylated amino acid binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0097110;scaffold protein binding;IEA|GO:1990782;protein tyrosine kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRK			https://www.ncbi.nlm.nih.gov/omim/?term=164762	http://www.informatics.jax.org/searchtool/Search.do?query=CRK&submit=Quick%0D%11969ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRK	rs2229075	0.727835	0.7768	0.7162	1	0	0	exonic	exonic	exonic	CRK	CRK	ENSG00000167193	synonymous SNV	synonymous SNV	unknown	CRK:NM_005206:exon1:c.A49C:p.R17R,CRK:NM_016823:exon1:c.A49C:p.R17R,	CRK:uc002fsl.3:exon1:c.A49C:p.R17R,CRK:uc002fsm.3:exon1:c.A49C:p.R17R,	UNKNOWN	Het;T>G	1444;38|63	Hom;T>G	2576;0|92
N	N	-	17	1370459	1370459	T	C	snp	intronic	 	 	 	 	MYO1C	Myo1c	ENSG00000197879	myosin IC	chr17:1367392-1396106	This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural	Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells. Mice homozygous for a nuclear isoform-specifc knock-out allele exhibit minor changes in bone marrow density and red blood cells.	B-WICH complex positively regulates rRNA expression	GO:0006605;protein targeting;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0038089;positive regulation of cell migration by vascular endothelial growth factor signaling pathway;IMP|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0051028;mRNA transport;IEA|GO:0090314;positive regulation of protein targeting to membrane;IMP|GO:1900078;positive regulation of cellular response to insulin stimulus;IEA|GO:1900748;positive regulation of vascular endothelial growth factor signaling pathway;IMP|GO:2000810;regulation of bicellular tight junction assembly;IMP	GO:0001726;ruffle;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IEA|GO:0009925;basal plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;TAS|GO:0016604;nuclear body;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031941;filamentous actin;IDA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IDA|GO:0045160;myosin I complex;IEA|GO:0060171;stereocilium membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;IEA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0017160;Ral GTPase binding;IPI|GO:0030898;actin-dependent ATPase activity;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1C			https://www.ncbi.nlm.nih.gov/omim/?term=606538	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1C&submit=Quick%0D%16739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1C	rs2302459	0.736621	0	0	1	0	0	intronic	intronic	intronic	MYO1C	MYO1C	ENSG00000197879	Na	Na	Na	Na	Na	Na	Het;T>C	183;20|10	Hom;T>C	739;0|24
N	N	-	17	1371123	1371123	T	C	snp	intronic	 	 	 	 	MYO1C	Myo1c	ENSG00000197879	myosin IC	chr17:1367392-1396106	This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural	Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells. Mice homozygous for a nuclear isoform-specifc knock-out allele exhibit minor changes in bone marrow density and red blood cells.	B-WICH complex positively regulates rRNA expression	GO:0006605;protein targeting;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0038089;positive regulation of cell migration by vascular endothelial growth factor signaling pathway;IMP|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0051028;mRNA transport;IEA|GO:0090314;positive regulation of protein targeting to membrane;IMP|GO:1900078;positive regulation of cellular response to insulin stimulus;IEA|GO:1900748;positive regulation of vascular endothelial growth factor signaling pathway;IMP|GO:2000810;regulation of bicellular tight junction assembly;IMP	GO:0001726;ruffle;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IEA|GO:0009925;basal plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;TAS|GO:0016604;nuclear body;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031941;filamentous actin;IDA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IDA|GO:0045160;myosin I complex;IEA|GO:0060171;stereocilium membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;IEA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0017160;Ral GTPase binding;IPI|GO:0030898;actin-dependent ATPase activity;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1C			https://www.ncbi.nlm.nih.gov/omim/?term=606538	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1C&submit=Quick%0D%16739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1C	rs8072859	0.736821	0.7848	0.7301	1	0	0	intronic	intronic	intronic	MYO1C	MYO1C	ENSG00000197879	Na	Na	Na	Na	Na	Na	Het;T>C	345;11|17	Hom;T>C	691;0|22
N	N	-	17	1371473	1371473	C	G	snp	intronic	 	 	 	 	MYO1C	Myo1c	ENSG00000197879	myosin IC	chr17:1367392-1396106	This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural	Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells. Mice homozygous for a nuclear isoform-specifc knock-out allele exhibit minor changes in bone marrow density and red blood cells.	B-WICH complex positively regulates rRNA expression	GO:0006605;protein targeting;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0038089;positive regulation of cell migration by vascular endothelial growth factor signaling pathway;IMP|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0051028;mRNA transport;IEA|GO:0090314;positive regulation of protein targeting to membrane;IMP|GO:1900078;positive regulation of cellular response to insulin stimulus;IEA|GO:1900748;positive regulation of vascular endothelial growth factor signaling pathway;IMP|GO:2000810;regulation of bicellular tight junction assembly;IMP	GO:0001726;ruffle;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IEA|GO:0009925;basal plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;TAS|GO:0016604;nuclear body;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031941;filamentous actin;IDA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IDA|GO:0045160;myosin I complex;IEA|GO:0060171;stereocilium membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;IEA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0017160;Ral GTPase binding;IPI|GO:0030898;actin-dependent ATPase activity;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1C			https://www.ncbi.nlm.nih.gov/omim/?term=606538	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1C&submit=Quick%0D%16739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1C	rs8079811	0.634185	0	0	1	0	0	intronic	intronic	intronic	MYO1C	MYO1C	ENSG00000197879	Na	Na	Na	Na	Na	Na	Het;C>G	408;21|20	Hom;C>G	1526;0|48
N	N	-	17	1372987	1372987	T	G	snp	intronic	 	 	 	 	MYO1C	Myo1c	ENSG00000197879	myosin IC	chr17:1367392-1396106	This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural	Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells. Mice homozygous for a nuclear isoform-specifc knock-out allele exhibit minor changes in bone marrow density and red blood cells.	B-WICH complex positively regulates rRNA expression	GO:0006605;protein targeting;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0038089;positive regulation of cell migration by vascular endothelial growth factor signaling pathway;IMP|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0051028;mRNA transport;IEA|GO:0090314;positive regulation of protein targeting to membrane;IMP|GO:1900078;positive regulation of cellular response to insulin stimulus;IEA|GO:1900748;positive regulation of vascular endothelial growth factor signaling pathway;IMP|GO:2000810;regulation of bicellular tight junction assembly;IMP	GO:0001726;ruffle;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IEA|GO:0009925;basal plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;TAS|GO:0016604;nuclear body;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031941;filamentous actin;IDA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IDA|GO:0045160;myosin I complex;IEA|GO:0060171;stereocilium membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;IEA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0017160;Ral GTPase binding;IPI|GO:0030898;actin-dependent ATPase activity;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1C			https://www.ncbi.nlm.nih.gov/omim/?term=606538	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1C&submit=Quick%0D%16739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1C	rs9303175	0.574681	0	0	1	0	0	intronic	intronic	intronic	MYO1C	MYO1C	ENSG00000197879	Na	Na	Na	Na	Na	Na	Het;T>G	70;6|3	Hom;T>G	222;0|7
N	N	-	17	1479165	1479165	A	G	snp	intronic	 	 	 	 	SLC43A2	Slc43a2	ENSG00000278550	solute carrier family 43 member 2	chr17:1472561-1532180	This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display fetal growth retardation, abnormal placental amino acid transport, slow postnatal weight gain, malnutrition and postnatal lethality, likely as a result of impaired intestinal amino acid absorption.	Amino acid transport across the plasma membrane	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015804;neutral amino acid transport;IEA|GO:0015807;L-amino acid transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902475;L-alpha-amino acid transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015175;neutral amino acid transmembrane transporter activity;IBA|GO:0015179;L-amino acid transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC43A2			https://www.ncbi.nlm.nih.gov/omim/?term=610791	http://www.informatics.jax.org/searchtool/Search.do?query=SLC43A2&submit=Quick%0D%22076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC43A2	rs2280456	0.674321	0	0	1	0	0	intronic	intronic	intronic	SLC43A2	SLC43A2	ENSG00000167703	Na	Na	Na	Na	Na	Na	Het;A>G	95;11|5	Hom;A>G	119;0|4
N	N	-	17	16323589	16323589	C	A	snp	intronic	 	 	 	 	TRPV2	Trpv2	ENSG00000187688	transient receptor potential cation channel subfamily V member 2	chr17:16318856-16340317	This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit impaired macrophage migration, binding, and phagocytosis with increased susceptiblity and mortality following bacterial infection.	TRP channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007600;sensory perception;TAS|GO:0009266;response to temperature stimulus;IDA|GO:0009408;response to heat;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0032584;growth cone membrane;IEA|GO:0042470;melanosome;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA	GO:0005216;ion channel activity;TAS|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0015075;ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV2			https://www.ncbi.nlm.nih.gov/omim/?term=606676	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV2&submit=Quick%0D%15871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV2	rs4273076	0.365216	0.4943	0.5356	1	0	0	intronic	intronic	intronic	TRPV2	TRPV2	ENSG00000187688	Na	Na	Na	Na	Na	Na	Het;C>A	2130;65|65	Hom;C>A	4019;0|106
N	N	-	17	16323608	16323612	ATAGT	A	indel	intronic	 	 	 	 	TRPV2	Trpv2	ENSG00000187688	transient receptor potential cation channel subfamily V member 2	chr17:16318856-16340317	This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit impaired macrophage migration, binding, and phagocytosis with increased susceptiblity and mortality following bacterial infection.	TRP channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007600;sensory perception;TAS|GO:0009266;response to temperature stimulus;IDA|GO:0009408;response to heat;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0032584;growth cone membrane;IEA|GO:0042470;melanosome;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA	GO:0005216;ion channel activity;TAS|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0015075;ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV2			https://www.ncbi.nlm.nih.gov/omim/?term=606676	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV2&submit=Quick%0D%15871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV2	rs5819569	0.453474	0.5649	0.5575	1	0	0	intronic	intronic	intronic	TRPV2	TRPV2	ENSG00000187688	Na	Na	Na	Na	Na	Na	Het;-TAGT	1797;54|48	Hom;-TAGT	3197;0|72
N	N	-	17	16323738	16323738	A	G	snp	intronic	 	 	 	 	TRPV2	Trpv2	ENSG00000187688	transient receptor potential cation channel subfamily V member 2	chr17:16318856-16340317	This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit impaired macrophage migration, binding, and phagocytosis with increased susceptiblity and mortality following bacterial infection.	TRP channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007600;sensory perception;TAS|GO:0009266;response to temperature stimulus;IDA|GO:0009408;response to heat;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0032584;growth cone membrane;IEA|GO:0042470;melanosome;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA	GO:0005216;ion channel activity;TAS|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0015075;ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV2			https://www.ncbi.nlm.nih.gov/omim/?term=606676	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV2&submit=Quick%0D%15871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV2	rs4629007	0.438299	0	0	1	0	0	intronic	intronic	intronic	TRPV2	TRPV2	ENSG00000187688	Na	Na	Na	Na	Na	Na	Het;A>G	170;8|6	Hom;A>G	91;0|3
N	N	-	17	16326253	16326253	G	T	snp	intronic	 	 	 	 	TRPV2	Trpv2	ENSG00000187688	transient receptor potential cation channel subfamily V member 2	chr17:16318856-16340317	This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit impaired macrophage migration, binding, and phagocytosis with increased susceptiblity and mortality following bacterial infection.	TRP channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007600;sensory perception;TAS|GO:0009266;response to temperature stimulus;IDA|GO:0009408;response to heat;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0032584;growth cone membrane;IEA|GO:0042470;melanosome;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA	GO:0005216;ion channel activity;TAS|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0015075;ion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV2			https://www.ncbi.nlm.nih.gov/omim/?term=606676	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV2&submit=Quick%0D%15871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV2	rs7225104	0.460663	0.6116	0.5481	1	0	0	intronic	intronic	intronic	TRPV2	TRPV2	ENSG00000187688	Na	Na	Na	Na	Na	Na	Het;G>T	491;14|20	Hom;G>T	1224;0|39
N	N	-	17	16344600	16344600	T	C	snp	ncRNA_exonic	 	 	 	 	SNORD65																		rs4617905	0.489617	0.6346	0.5757	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNORD65	SNORD65	ENSG00000175061	Na	Na	Na	Na	Na	Na	Het;T>C	3465;107|91	Hom;T>C	7100;0|197
N	N	-	17	17124815	17124815	C	T	snp	nonsynonymous SNV	G907A	G303R	aliphatic,neutral	polar,hydrophilic,charged(+)	FLCN	Flcn	ENSG00000154803	folliculin	chr17:17115526-17140502	This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive	Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FLCN	https://www.uniprot.org/uniprot/Q8NFG4	https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607273	http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN	rs3744124	0.0996406	0.0775	0.0725	0.18	2	11	exonic	exonic	exonic	FLCN	FLCN	ENSG00000154803	nonsynonymous SNV	nonsynonymous SNV	unknown	FLCN:NM_144606:exon8:c.G907A:p.G303R,	FLCN:uc002grb.4:exon8:c.G907A:p.G303R,	UNKNOWN	Het;C>T	2432;137|117	Hom;C>T	7103;2|263
N	N	-	17	17145967	17145967	G	A	snp	ncRNA_exonic	 	 	 	 	ACTG1P24																		rs9890243	0.152157	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FLCN(dist=5465),COPS3(dist=3971)	FLCN(dist=5465),COPS3(dist=3971)	ENSG00000226359	Na	Na	Na	Na	Na	Na	Het;G>A	217;31|13	Hom;G>A	871;0|35
N	N	-	17	17146219	17146219	C	T	snp	downstream	 	 	 	 	ACTG1P24																		rs9896078	0.14996	0	0	1	0	0	intergenic	intergenic	downstream	FLCN(dist=5717),COPS3(dist=3719)	FLCN(dist=5717),COPS3(dist=3719)	ENSG00000226359,ENSG00000265109	Na	Na	Na	Na	Na	Na	Het;C>T	97;5|5	Hom;C>T	59;0|3
N	N	-	17	17146619	17146619	G	A	snp	downstream	 	 	 	 	ACTG1P24																		rs16961474	0.134984	0	0	1	0	0	intergenic	intergenic	downstream	FLCN(dist=6117),COPS3(dist=3319)	FLCN(dist=6117),COPS3(dist=3319)	ENSG00000226359,ENSG00000265109	Na	Na	Na	Na	Na	Na	Het;G>A	191;19|11	Hom;G>A	1521;0|56
N	N	-	17	17158343	17158343	T	A	snp	intronic	 	 	 	 	COPS3	Cops3	ENSG00000141030	COP9 signalosome subunit 3	chr17:17150141-17184607	The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		Mice homozygous for disruptions in this gene display embryonic lethality with defects in developmental patterning and failure of the inner cell mass to proliferate.	Neddylation	GO:0000338;protein deneddylation;IDA|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0001701;in utero embryonic development;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0007165;signal transduction;TAS|GO:0009416;response to light stimulus;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008180;COP9 signalosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COPS3	https://www.uniprot.org/uniprot/Q9UNS2		https://www.ncbi.nlm.nih.gov/omim/?term=604665	http://www.informatics.jax.org/searchtool/Search.do?query=COPS3&submit=Quick%0D%8113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COPS3	rs117692484	0.13099	0	0	1	0	0	intronic	intronic	intronic	COPS3	COPS3	ENSG00000141030	Na	Na	Na	Na	Na	Na	Het;T>A	233;7|8	Hom;T>A	534;0|17
N	N	-	17	17168053	17168053	A	AT	indel	intronic	 	 	 	 	COPS3	Cops3	ENSG00000141030	COP9 signalosome subunit 3	chr17:17150141-17184607	The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		Mice homozygous for disruptions in this gene display embryonic lethality with defects in developmental patterning and failure of the inner cell mass to proliferate.	Neddylation	GO:0000338;protein deneddylation;IDA|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0001701;in utero embryonic development;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0007165;signal transduction;TAS|GO:0009416;response to light stimulus;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008180;COP9 signalosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COPS3	https://www.uniprot.org/uniprot/Q9UNS2		https://www.ncbi.nlm.nih.gov/omim/?term=604665	http://www.informatics.jax.org/searchtool/Search.do?query=COPS3&submit=Quick%0D%8113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COPS3	rs111722797	0.162141	0	0	1	0	0	intronic	intronic	intronic	COPS3	COPS3	ENSG00000141030	Na	Na	Na	Na	Na	Na	Het;+T	363;4|12	Hom;+T	448;0|13
N	N	-	17	17168316	17168316	A	T	snp	intronic	 	 	 	 	COPS3	Cops3	ENSG00000141030	COP9 signalosome subunit 3	chr17:17150141-17184607	The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		Mice homozygous for disruptions in this gene display embryonic lethality with defects in developmental patterning and failure of the inner cell mass to proliferate.	Neddylation	GO:0000338;protein deneddylation;IDA|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0001701;in utero embryonic development;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0007165;signal transduction;TAS|GO:0009416;response to light stimulus;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008180;COP9 signalosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COPS3	https://www.uniprot.org/uniprot/Q9UNS2		https://www.ncbi.nlm.nih.gov/omim/?term=604665	http://www.informatics.jax.org/searchtool/Search.do?query=COPS3&submit=Quick%0D%8113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COPS3	rs7219012	0.162141	0.1432	0.1584	1	0	0	intronic	intronic	intronic	COPS3	COPS3	ENSG00000141030	Na	Na	Na	Na	Na	Na	Het;A>T	1041;61|52	Hom;A>T	2550;0|95
N	N	-	17	17247985	17247985	G	A	snp	intronic	 	 	 	 	NT5M	Nt5m	ENSG00000205309	5',3'-nucleotidase, mitochondrial	chr17:17206649-17250977	This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Pyrimidine catabolism	GO:0006260;DNA replication;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009223;pyrimidine deoxyribonucleotide catabolic process;TAS|GO:0009264;deoxyribonucleotide catabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0046079;dUMP catabolic process;IEA|GO:0046135;pyrimidine nucleoside catabolic process;TAS	GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0008252;nucleotidase activity;TAS|GO:0008253;5'-nucleotidase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5M			https://www.ncbi.nlm.nih.gov/omim/?term=605292	http://www.informatics.jax.org/searchtool/Search.do?query=NT5M&submit=Quick%0D%17494ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5M	rs7212012	0.0836661	0	0	1	0	0	intronic	intronic	intronic	NT5M	NT5M	ENSG00000205309	Na	Na	Na	Na	Na	Na	Het;G>A	133;7|6	Hom;G>A	276;0|11
N	N	-	17	1800600	1800600	C	T	snp	UTR3	*131C>T	 	 	 	RPA1	Rpa1	ENSG00000132383	replication protein A1	chr17:1732996-1803376	Replication protein A (RPA) has been identified as a component of early recombination nodules. The visualization of post-synaptic RPA foci may indicate the presence of a different role for this protein during homologous recombination.	head and neck cancer lung cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; schizophrenia; multiple sclerosis; breast cancer; Coronary Disease; Stroke; coronary spastic angina.; Forced Expiratory Volume; Leukemia, Myeloid, Chronic-Phase; bladder cancer	Homozygous null mice display embryonic lethality before implantation and impaired cell proliferation. Heterozygous null mice display decreased survival, chromosomal instability, impaired double strand break repair, and develop lymphomas.	Meiotic recombination	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0000723;telomere maintenance;IMP|GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006261;DNA-dependent DNA replication;TAS|GO:0006281;DNA repair;IMP|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006284;base-excision repair;IDA|GO:0006289;nucleotide-excision repair;IMP|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0006298;mismatch repair;TAS|GO:0006310;DNA recombination;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0019985;translesion synthesis;TAS|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0034502;protein localization to chromosome;IDA|GO:0036297;interstrand cross-link repair;TAS|GO:0042276;error-prone translesion synthesis;TAS|GO:0042769;DNA damage response, detection of DNA damage;TAS|GO:0070987;error-free translesion synthesis;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0000723;telomere maintenance;IMP|GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006261;DNA-dependent DNA replication;TAS|GO:0006281;DNA repair;IMP|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006284;base-excision repair;IDA|GO:0006289;nucleotide-excision repair;IMP|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0006298;mismatch repair;TAS|GO:0006310;DNA recombination;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0019985;translesion synthesis;TAS|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0034502;protein localization to chromosome;IDA|GO:0036297;interstrand cross-link repair;TAS|GO:0042276;error-prone translesion synthesis;TAS|GO:0042769;DNA damage response, detection of DNA damage;TAS|GO:0070987;error-free translesion synthesis;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005662;DNA replication factor A complex;IPI|GO:0016605;PML body;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098505;G-rich strand telomeric DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPA1	https://www.uniprot.org/uniprot/P27694		https://www.ncbi.nlm.nih.gov/omim/?term=179835	http://www.informatics.jax.org/searchtool/Search.do?query=RPA1&submit=Quick%0D%147ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPA1	rs5030740	0.69389	0	0	1	0	0	UTR3	UTR3	UTR3	RPA1(NM_002945:c.*131C>T)	RPA1(uc002fto.2:c.*131C>T)	ENSG00000132383(ENST00000254719:c.*131C>T,ENST00000574049:c.*131C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	53;6|3	Hom;C>T	396;0|13
N	N	-	17	18035019	18035019	G	A	snp	intronic	 	 	 	 	MYO15A	Myo15	ENSG00000091536	myosin XVA	chr17:18012020-18083116	This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]	nonsyndromic deafness DFNB3	Mutations in this gene result in profound deafness and neurological behavior.		GO:0007605;sensory perception of sound;TAS|GO:0007626;locomotory behavior;IEA|GO:0042472;inner ear morphogenesis;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA|GO:0032420;stereocilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO15A	https://www.uniprot.org/uniprot/Q9UKN7	https://hpo.jax.org/app/browse/search?q=MYO15A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602666	http://www.informatics.jax.org/searchtool/Search.do?query=MYO15A&submit=Quick%0D%2154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO15A	rs854787	0.384185	0	0	1	0	0	intronic	intronic	intronic	MYO15A	MYO15A	ENSG00000091536	Na	Na	Na	Na	Na	Na	Het;G>A	185;4|8	Hom;G>A	197;0|6
N	N	-	17	18874685	18874685	C	CGGT	indel	nonframeshift substitution	2459_2459delinsACCG	 	 	 	FAM83G	Fam83g	ENSG00000188522	family with sequence similarity 83 member G	chr17:18872102-18908117			Mutations at this locus result in curly hair.		GO:0030509;BMP signaling pathway;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM83G			https://www.ncbi.nlm.nih.gov/omim/?term=615886	http://www.informatics.jax.org/searchtool/Search.do?query=FAM83G&submit=Quick%0D%16048ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM83G	rs3071666	0.651757	0.5954	0.6077	1	0	0	exonic	exonic	exonic	FAM83G	FAM83G	ENSG00000188522	nonframeshift substitution	nonframeshift substitution	unknown	FAM83G:NM_001039999:exon6:c.2459_2459delinsACCG,	FAM83G:uc002guw.3:exon6:c.2459_2459delinsACCG,	UNKNOWN	Het;+GGT	925;30|21	Hom;+GGT	2622;0|56
N	N	-	17	18874720	18874720	C	G	snp	synonymous SNV	G2424C	S808S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FAM83G	Fam83g	ENSG00000188522	family with sequence similarity 83 member G	chr17:18872102-18908117			Mutations at this locus result in curly hair.		GO:0030509;BMP signaling pathway;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM83G			https://www.ncbi.nlm.nih.gov/omim/?term=615886	http://www.informatics.jax.org/searchtool/Search.do?query=FAM83G&submit=Quick%0D%16048ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM83G	rs916823	0.674321	0.6265	0.6139	1	0	0	exonic	exonic	exonic	FAM83G	FAM83G	ENSG00000188522	synonymous SNV	synonymous SNV	unknown	FAM83G:NM_001039999:exon6:c.G2424C:p.S808S,	FAM83G:uc002guw.3:exon6:c.G2424C:p.S808S,	UNKNOWN	Het;C>G	902;53|45	Hom;C>G	2665;0|97
N	N	-	17	1923056	1923056	C	T	snp	ncRNA_exonic	 	 	 	 	BC040634																		rs3803804	0.261581	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	RTN4RL1	BC040634	ENSG00000228133	Na	Na	Na	Na	Na	Na	Het;C>T	1406;64|68	Hom;C>T	3819;3|143
N	N	-	17	19752997	19752998	TA	T	indel	intronic	 	 	 	 	ULK2	Ulk2	ENSG00000083290	unc-51 like autophagy activating kinase 2	chr17:19674142-19771249	This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]	Parkinson Disease; Tobacco Use Disorder; Parkinson's disease 	Homozygous mutation of this gene results in an increased anxiety-like response in males.		GO:0006468;protein phosphorylation;IEA|GO:0006914;autophagy;IDA|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0042594;response to starvation;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0048675;axon extension;IBA	GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034045;pre-autophagosomal structure membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK2	https://www.uniprot.org/uniprot/Q8IYT8		https://www.ncbi.nlm.nih.gov/omim/?term=608650	http://www.informatics.jax.org/searchtool/Search.do?query=ULK2&submit=Quick%0D%1823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK2	rs11295844	0.410144	0	0	1	0	0	intronic	intronic	intronic	ULK2	ULK2	ENSG00000083290	Na	Na	Na	Na	Na	Na	Het;-A	355;9|25	Hom;-A	510;2|28
N	N	-	17	20370735	20370735	T	C	snp	intronic	 	 	 	 	LGALS9B	Lgals9	ENSG00000170298	galectin 9B	chr17:20352708-20370852	This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele exhibit increased susceptibility to collagen-induced arthritis, increased T-helper 1 cells and decreased regulatory T cells.			GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LGALS9B				http://www.informatics.jax.org/searchtool/Search.do?query=LGALS9B&submit=Quick%0D%12673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS9B	rs4985833	0.953075	0	0.9098	1	0	0	intronic	intronic	intronic	LGALS9B	LGALS9B	ENSG00000170298	Na	Na	Na	Na	Na	Na	Het;T>C	151;2|7	Hom;T>C	487;0|20
N	N	-	17	20488787	20488787	G	GTAC	indel	ncRNA_exonic	 	 	 	 	ZSWIM5P2																		rs113046992	0.230831	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CDRT15L2(dist=4563),LOC100287072(dist=126972)	CDRT15L2(dist=4563),LOC100287072(dist=126972)	ENSG00000231258	Na	Na	Na	Na	Na	Na	Het;+TAC	528;10|15	Hom;+TAC	1133;0|26
N	N	-	17	20988134	20988135	GT	G	indel	ncRNA_exonic	 	 	 	 	LINC01563																		rs34489477	0.729433	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC01563	HP08942	ENSG00000236819	Na	Na	Na	Na	Na	Na	Het;-T	731;9|24	Hom;-T	1389;0|38
N	N	-	17	21201981	21201981	A	G	snp	intronic	 	 	 	 	MAP2K3	Map2k3	ENSG00000034152	mitogen-activated protein kinase kinase 3	chr17:21187984-21218552	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis	Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production.	Uptake and function of anthrax toxins	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA	GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3	https://www.uniprot.org/uniprot/P46734		https://www.ncbi.nlm.nih.gov/omim/?term=602315	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3	rs8072533	0.000199681	0	0	1	0	0	intronic	intronic	intronic	MAP2K3	MAP2K3	ENSG00000034152	Na	Na	Na	Na	Na	Na	Het;A>G	401;7|12	Hom;A>G	313;0|9
N	N	-	17	21207916	21207916	A	G	snp	intronic	 	 	 	 	MAP2K3	Map2k3	ENSG00000034152	mitogen-activated protein kinase kinase 3	chr17:21187984-21218552	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis	Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production.	Uptake and function of anthrax toxins	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA	GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3	https://www.uniprot.org/uniprot/P46734		https://www.ncbi.nlm.nih.gov/omim/?term=602315	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3	rs7209761	0.64976	0.7097	0.6664	1	0	0	intronic	intronic	intronic	MAP2K3	MAP2K3	ENSG00000034152	Na	Na	Na	Na	Na	Na	Het;A>G	2841;32|76	Hom;A>G	3534;0|88
N	N	-	17	21216964	21216964	T	C	snp	unknown	 	 	 	 	MAP2K3	Map2k3	ENSG00000034152	mitogen-activated protein kinase kinase 3	chr17:21187984-21218552	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis	Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production.	Uptake and function of anthrax toxins	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA	GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3	https://www.uniprot.org/uniprot/P46734		https://www.ncbi.nlm.nih.gov/omim/?term=602315	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3	rs1657686	0.64397	0	0.6763	0.20	1	5	intronic	intronic	exonic	MAP2K3	MAP2K3	ENSG00000034152	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	747;8|22	Hom;T>C	629;0|17
N	N	-	17	21267541	21267541	A	G	snp	intergenic	 	 	 	 	MAP2K3	Map2k3	ENSG00000034152	mitogen-activated protein kinase kinase 3	chr17:21187984-21218552	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis	Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production.	Uptake and function of anthrax toxins	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA	GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3	https://www.uniprot.org/uniprot/P46734		https://www.ncbi.nlm.nih.gov/omim/?term=602315	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3	rs1914888	0.661342	0	0	1	0	0	intergenic	intergenic	intergenic	MAP2K3(dist=48990),KCNJ12(dist=12158)	MAP2K3(dist=48990),KCNJ12(dist=12158)	ENSG00000034152(dist=48989),ENSG00000184185(dist=11968)	Na	Na	Na	Na	Na	Na	Het;A>G	213;14|10	Hom;A>G	356;0|15
N	N	-	17	21267590	21267590	G	A	snp	intergenic	 	 	 	 	MAP2K3	Map2k3	ENSG00000034152	mitogen-activated protein kinase kinase 3	chr17:21187984-21218552	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis	Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production.	Uptake and function of anthrax toxins	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA	GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3	https://www.uniprot.org/uniprot/P46734		https://www.ncbi.nlm.nih.gov/omim/?term=602315	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3	rs1914889	0.577875	0	0	1	0	0	intergenic	intergenic	intergenic	MAP2K3(dist=49039),KCNJ12(dist=12109)	MAP2K3(dist=49039),KCNJ12(dist=12109)	ENSG00000034152(dist=49038),ENSG00000184185(dist=11919)	Na	Na	Na	Na	Na	Na	Het;G>A	192;10|11	Hom;G>A	338;0|14
N	N	-	17	21318334	21318334	C	T	snp	intronic	 	 	 	 	KCNJ12	Kcnj12	ENSG00000184185	potassium voltage-gated channel subfamily J member 12	chr17:21279509-21323179	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA	GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12			https://www.ncbi.nlm.nih.gov/omim/?term=602323	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12	rs73313916	0.000399361	0	0	1	0	0	intronic	intronic	intronic	KCNJ12,KCNJ18	KCNJ12	ENSG00000184185	Na	Na	Na	Na	Na	Na	Het;C>T	56;1|4	Hom;C>T	58;0|3
N	N	-	17	21323413	21323413	C	T	snp	downstream	 	 	 	 	KCNJ12	Kcnj12	ENSG00000184185	potassium voltage-gated channel subfamily J member 12	chr17:21279509-21323179	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA	GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12			https://www.ncbi.nlm.nih.gov/omim/?term=602323	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12	rs77078182	0.463658	0	0	1	0	0	downstream	downstream	downstream	KCNJ12	KCNJ12	ENSG00000184185	Na	Na	Na	Na	Na	Na	Het;C>T	50;2|2	Hom;C>T	287;0|7
N	N	-	17	21323414	21323414	A	C	snp	downstream	 	 	 	 	KCNJ12	Kcnj12	ENSG00000184185	potassium voltage-gated channel subfamily J member 12	chr17:21279509-21323179	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA	GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12			https://www.ncbi.nlm.nih.gov/omim/?term=602323	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12	rs77685110	0.463658	0	0	1	0	0	downstream	downstream	downstream	KCNJ12	KCNJ12	ENSG00000184185	Na	Na	Na	Na	Na	Na	Het;A>C	50;2|2	Hom;A>C	287;0|7
N	N	-	17	21323422	21323422	C	T	snp	downstream	 	 	 	 	KCNJ12	Kcnj12	ENSG00000184185	potassium voltage-gated channel subfamily J member 12	chr17:21279509-21323179	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA	GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12			https://www.ncbi.nlm.nih.gov/omim/?term=602323	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12	rs72842130	0	0	0	1	0	0	downstream	downstream	downstream	KCNJ12	KCNJ12	ENSG00000184185	Na	Na	Na	Na	Na	Na	Het;C>T	50;2|2	Hom;C>T	287;0|7
N	N	-	17	21325140	21325140	G	A	snp	intergenic	 	 	 	 	KCNJ12	Kcnj12	ENSG00000184185	potassium voltage-gated channel subfamily J member 12	chr17:21279509-21323179	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA	GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12			https://www.ncbi.nlm.nih.gov/omim/?term=602323	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12	rs12950097	0	0	0	1	0	0	intergenic	intergenic	intergenic	KCNJ12(dist=1961),C17orf51(dist=106431)	KCNJ12(dist=1961),C17orf51(dist=106431)	ENSG00000184185(dist=1961),ENSG00000265881(dist=23005)	Na	Na	Na	Na	Na	Na	Het;G>A	77;1|4	Hom;G>A	142;0|6
N	N	-	17	21326308	21326308	T	G	snp	intergenic	 	 	 	 	KCNJ12	Kcnj12	ENSG00000184185	potassium voltage-gated channel subfamily J member 12	chr17:21279509-21323179	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA	GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12			https://www.ncbi.nlm.nih.gov/omim/?term=602323	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12	rs72842147	0	0	0	1	0	0	intergenic	intergenic	intergenic	KCNJ12(dist=3129),C17orf51(dist=105263)	KCNJ12(dist=3129),C17orf51(dist=105263)	ENSG00000184185(dist=3129),ENSG00000265881(dist=21837)	Na	Na	Na	Na	Na	Na	Het;T>G	50;2|2	Hom;T>G	152;0|4
N	N	-	17	21338661	21338661	T	C	snp	intergenic	 	 	 	 	KCNJ12	Kcnj12	ENSG00000184185	potassium voltage-gated channel subfamily J member 12	chr17:21279509-21323179	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA	GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12			https://www.ncbi.nlm.nih.gov/omim/?term=602323	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12	rs56245505	0.000199681	0	0	1	0	0	intergenic	intergenic	intergenic	KCNJ12(dist=15482),C17orf51(dist=92910)	KCNJ12(dist=15482),C17orf51(dist=92910)	ENSG00000184185(dist=15482),ENSG00000265881(dist=9484)	Na	Na	Na	Na	Na	Na	Het;T>C	92;2|5	Hom;T>C	62;0|3
N	N	-	17	21517644	21517644	C	G	snp	intergenic	 	 	 	 	AC233702.3																		rs9890998	0.714657	0	0	1	0	0	intergenic	intergenic	intergenic	C17orf51(dist=62703),FAM27L(dist=307726)	NONE(dist=NONE),UBBP4(dist=212229)	ENSG00000263375(dist=20198),ENSG00000265019(dist=18370)	Na	Na	Na	Na	Na	Na	Het;C>G	2140;22|64	Hom;C>G	2438;0|65
N	N	-	17	21556909	21556909	C	T	snp	intergenic	 	 	 	 	ABBA01006766.2																		rs78235056	0	0	0	1	0	0	intergenic	intergenic	intergenic	C17orf51(dist=101968),FAM27L(dist=268461)	NONE(dist=NONE),UBBP4(dist=172964)	ENSG00000265233(dist=6930),ENSG00000264617(dist=3639)	Na	Na	Na	Na	Na	Na	Het;C>T	182;2|7	Hom;C>T	260;0|10
N	N	-	17	25298320	25298320	C	T	snp	intergenic	 	 	 	 	NONE																		rs62057708	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR4522(dist=322616)	NONE(dist=NONE),MIR4522(dist=322616)	NONE(dist=NONE),ENSG00000263433(dist=10400)	Na	Na	Na	Na	Na	Na	Het;C>T	965;6|26	Hom;C>T	1097;0|25
N	N	-	17	25298324	25298324	A	G	snp	intergenic	 	 	 	 	NONE																		rs7501829	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR4522(dist=322612)	NONE(dist=NONE),MIR4522(dist=322612)	NONE(dist=NONE),ENSG00000263433(dist=10396)	Na	Na	Na	Na	Na	Na	Het;A>G	943;6|22	Hom;A>G	1097;0|25
N	N	-	17	25298338	25298338	C	G	snp	intergenic	 	 	 	 	NONE																		rs4383183	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR4522(dist=322598)	NONE(dist=NONE),MIR4522(dist=322598)	NONE(dist=NONE),ENSG00000263433(dist=10382)	Na	Na	Na	Na	Na	Na	Het;C>G	794;6|19	Hom;C>G	872;0|20
N	N	-	17	25299470	25299470	C	A	snp	intergenic	 	 	 	 	NONE																		rs9748013	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR4522(dist=321466)	NONE(dist=NONE),MIR4522(dist=321466)	NONE(dist=NONE),ENSG00000263433(dist=9250)	Na	Na	Na	Na	Na	Na	Het;C>A	341;3|9	Hom;C>A	557;0|13
N	N	-	17	25909850	25909850	G	T	snp	synonymous SNV	G288T	L96L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KSR1	Ksr1	ENSG00000141068	kinase suppressor of ras 1	chr17:25783670-25953461		Tobacco Use Disorder	Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation.	Paradoxical activation of RAF signaling by kinase inactive BRAF	GO:0000165;MAPK cascade;TAS|GO:0006468;protein phosphorylation;IBA|GO:0007265;Ras protein signal transduction;IEA|GO:0019933;cAMP-mediated signaling;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043410;positive regulation of MAPK cascade;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IDA	GO:0004672;protein kinase activity;NAS|GO:0004871;signal transducer activity;IBA|GO:0005078;MAP-kinase scaffold activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KSR1	https://www.uniprot.org/uniprot/Q8IVT5		https://www.ncbi.nlm.nih.gov/omim/?term=601132	http://www.informatics.jax.org/searchtool/Search.do?query=KSR1&submit=Quick%0D%8117ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KSR1	rs2293181	0.383187	0.4081	0.4341	1	0	0	exonic	exonic	exonic	KSR1	KSR1	ENSG00000141068	synonymous SNV	synonymous SNV	unknown	KSR1:NM_014238:exon5:c.G288T:p.L96L,	KSR1:uc031qzj.1:exon2:c.G288T:p.L96L,	UNKNOWN	Het;G>T	955;44|48	Hom;G>T	2663;0|97
N	N	-	17	26851501	26851501	G	A	snp	intronic	 	 	 	 	FOXN1	Foxn1	ENSG00000109101	forkhead box N1	chr17:26833261-26865914	Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Cleft Lip|Cleft Palate	Homozygotes for different mutations have in genetically determined absence or loss of hair and failed hair keratinization, premature lethality (differing by genetic background) and absence of thymus, resulting in multiple immune abnormalities. Heterozygotes have enlarged thymuses.		GO:0001942;hair follicle development;IEA|GO:0002260;lymphocyte homeostasis;IEA|GO:0002360;T cell lineage commitment;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006952;defense response;TAS|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008544;epidermis development;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0010468;regulation of gene expression;IEA|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030858;positive regulation of epithelial cell differentiation;IDA|GO:0033081;regulation of T cell differentiation in thymus;IEA|GO:0035878;nail development;IEA|GO:0043029;T cell homeostasis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0048538;thymus development;IEA|GO:0050673;epithelial cell proliferation;IEA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0097535;lymphoid lineage cell migration into thymus;IEA|GO:0097536;thymus epithelium morphogenesis;IEA|GO:1902232;regulation of positive thymic T cell selection;IEA	GO:0005634;nucleus;TAS	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FOXN1	https://www.uniprot.org/uniprot/O15353	https://hpo.jax.org/app/browse/search?q=FOXN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600838	http://www.informatics.jax.org/searchtool/Search.do?query=FOXN1&submit=Quick%0D%3815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXN1	rs614434	0.650759	0.6302	0.7149	1	0	0	intronic	intronic	intronic	FOXN1	FOXN1	ENSG00000109101,ENSG00000258472	Na	Na	Na	Na	Na	Na	Het;G>A	1194;57|56	Hom;G>A	3231;1|121
N	N	-	17	26905927	26905927	A	G	snp	intronic	 	 	 	 	SPAG5	Spag5	ENSG00000076382	sperm associated antigen 5	chr17:26904588-26926297	This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]	breast cancer	Mice homozygous for a targeted mutation are viable and fertile with normal breeding and mating behavio; no abnormalities in male reproductive system anatomy or histology or in spermatogenesis were detectable.		GO:0000070;mitotic sister chromatid segregation;IMP|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007059;chromosome segregation;IMP|GO:0051294;establishment of spindle orientation;IBA|GO:0051301;cell division;IEA|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IEA|GO:0071539;protein localization to centrosome;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005876;spindle microtubule;IBA|GO:0030496;midbody;IEA|GO:0034451;centriolar satellite;IMP|GO:0035371;microtubule plus-end;IDA|GO:0072686;mitotic spindle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPAG5	https://www.uniprot.org/uniprot/Q96R06		https://www.ncbi.nlm.nih.gov/omim/?term=615562	http://www.informatics.jax.org/searchtool/Search.do?query=SPAG5&submit=Quick%0D%1584ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAG5	rs577451	0.222644	0	0	1	0	0	intronic	intronic	intronic	SPAG5	SPAG5	ENSG00000076382,ENSG00000258472	Na	Na	Na	Na	Na	Na	Het;A>G	178;3|6	Hom;A>G	169;0|5
N	N	-	17	2699935	2699935	T	C	snp	intronic	 	 	 	 	RAP1GAP2	Rap1gap2	ENSG00000132359	RAP1 GTPase activating protein 2	chr17:2680350-2941033	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Myocardial Infarction; Death, Sudden, Cardiac; Stroke; Hypertension	Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations.	Rap1 signalling	GO:0008361;regulation of cell size;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IGI|GO:0031965;nuclear membrane;IDA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAP1GAP2	https://www.uniprot.org/uniprot/Q684P5			http://www.informatics.jax.org/searchtool/Search.do?query=RAP1GAP2&submit=Quick%0D%6658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1GAP2	rs123059	0.699081	0.7541	0	1	0	0	intronic	intronic	intronic	RAP1GAP2	RAP1GAP2	ENSG00000132359	Na	Na	Na	Na	Na	Na	Het;T>C	491;10|20	Hom;T>C	430;2|17
N	N	-	17	27835211	27835211	A	C	snp	intronic	 	 	 	 	TAOK1	Taok1	ENSG00000160551	TAO kinase 1	chr17:27717482-27878922		mean platelet volume; HIV Infections|[X]Human immunodeficiency virus disease; Platelet Count	 	Mitotic Prometaphase	GO:0006281;DNA repair;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007062;sister chromatid cohesion;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0031572;G2 DNA damage checkpoint;IMP|GO:0032874;positive regulation of stress-activated MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IDA|GO:0051493;regulation of cytoskeleton organization;ISS|GO:0097194;execution phase of apoptosis;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;NAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;NAS|GO:0016740;transferase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TAOK1			https://www.ncbi.nlm.nih.gov/omim/?term=610266	http://www.informatics.jax.org/searchtool/Search.do?query=TAOK1&submit=Quick%0D%10478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAOK1	rs622096	0.130192	0	0	1	0	0	intronic	intronic	intronic	TAOK1	TAOK1	ENSG00000160551	Na	Na	Na	Na	Na	Na	Het;A>C	79;5|4	Hom;A>C	341;0|12
N	N	-	17	27857698	27857698	C	T	snp	intronic	 	 	 	 	TAOK1	Taok1	ENSG00000160551	TAO kinase 1	chr17:27717482-27878922		mean platelet volume; HIV Infections|[X]Human immunodeficiency virus disease; Platelet Count	 	Mitotic Prometaphase	GO:0006281;DNA repair;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007062;sister chromatid cohesion;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0031572;G2 DNA damage checkpoint;IMP|GO:0032874;positive regulation of stress-activated MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IDA|GO:0051493;regulation of cytoskeleton organization;ISS|GO:0097194;execution phase of apoptosis;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;NAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;NAS|GO:0016740;transferase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TAOK1			https://www.ncbi.nlm.nih.gov/omim/?term=610266	http://www.informatics.jax.org/searchtool/Search.do?query=TAOK1&submit=Quick%0D%10478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAOK1	rs536327	0.309904	0	0	1	0	0	intronic	intronic	intronic	TAOK1	TAOK1	ENSG00000160551	Na	Na	Na	Na	Na	Na	Het;C>T	199;9|8	Hom;C>T	898;0|32
N	N	-	17	27869968	27869968	G	A	snp	synonymous SNV	G2490A	T830T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TAOK1	Taok1	ENSG00000160551	TAO kinase 1	chr17:27717482-27878922		mean platelet volume; HIV Infections|[X]Human immunodeficiency virus disease; Platelet Count	 	Mitotic Prometaphase	GO:0006281;DNA repair;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007062;sister chromatid cohesion;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0031572;G2 DNA damage checkpoint;IMP|GO:0032874;positive regulation of stress-activated MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IDA|GO:0051493;regulation of cytoskeleton organization;ISS|GO:0097194;execution phase of apoptosis;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;NAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;NAS|GO:0016740;transferase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TAOK1			https://www.ncbi.nlm.nih.gov/omim/?term=610266	http://www.informatics.jax.org/searchtool/Search.do?query=TAOK1&submit=Quick%0D%10478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAOK1	rs507577	0.270966	0.3894	0.4027	1	0	0	exonic	exonic	exonic	TAOK1	TAOK1	ENSG00000160551	synonymous SNV	synonymous SNV	unknown	TAOK1:NM_020791:exon20:c.G2934A:p.T978T,TAOK1:NM_025142:exon18:c.G2490A:p.T830T,	TAOK1:uc010wbe.2:exon18:c.G2490A:p.T830T,TAOK1:uc002hdz.2:exon20:c.G2934A:p.T978T,	UNKNOWN	Het;G>A	3433;119|154	Hom;G>A	7900;4|297
N	N	-	17	27889578	27889578	T	C	snp	UTR3	*1A>G	 	 	 	ABHD15	Abhd15	ENSG00000168792	abhydrolase domain containing 15	chr17:27887565-27894155			 		GO:0044255;cellular lipid metabolic process;IBA	GO:0005576;extracellular region;IEA|GO:0016020;membrane;IDA	GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ABHD15				http://www.informatics.jax.org/searchtool/Search.do?query=ABHD15&submit=Quick%0D%12343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD15	rs539307	0.744609	0.6692	0.6571	1	0	0	UTR3	UTR3	ncRNA_intronic	ABHD15(NM_198147:c.*1A>G)	ABHD15(uc002hed.2:c.*1A>G)	ENSG00000264031	Na	Na	Na	Na	Na	Na	Het;T>C	994;16|39	Hom;T>C	1007;0|34
N	N	-	17	27898828	27898828	T	C	snp	ncRNA_intronic	 	 	 	 	ABHD15-AS1																		rs565977	0.670727	0.6710	0.6647	1	0	0	intronic	intronic	ncRNA_intronic	TP53I13	TP53I13	ENSG00000264031	Na	Na	Na	Na	Na	Na	Het;T>C	656;24|24	Hom;T>C	1773;0|53
N	N	-	17	27901975	27901975	A	G	snp	unknown	 	 	 	 	GIT1	Git1	ENSG00000108262	GIT ArfGAP 1	chr17:27900487-27921072		Body Height; Narcolepsy	Mice homozygous for a knock-out allele exhibit postnatal lethality associated with abnormal lung vascular development with surviving mice exhibiting abnormal learning and anxiety related behavior.	Ephrin signaling	GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0032465;regulation of cytokinesis;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048013;ephrin receptor signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GIT1	https://www.uniprot.org/uniprot/Q9Y2X7		https://www.ncbi.nlm.nih.gov/omim/?term=608434	http://www.informatics.jax.org/searchtool/Search.do?query=GIT1&submit=Quick%0D%3693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GIT1	rs550818	0.795128	0.7630	0.7677	0.20	1	5	intronic	intronic	exonic	GIT1	GIT1	ENSG00000108262	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	312;21|14	Hom;A>G	609;0|22
N	N	-	17	27905673	27905673	A	G	snp	ncRNA_intronic	 	 	 	 	ABHD15-AS1																		rs563976	0.792532	0.7505	0	1	0	0	intronic	intronic	ncRNA_intronic	GIT1	GIT1	ENSG00000264031	Na	Na	Na	Na	Na	Na	Het;A>G	56;9|3	Hom;A>G	497;0|17
N	N	-	17	28029938	28029938	T	C	snp	ncRNA_intronic	 	 	 	 	ABHD15-AS1																		rs3102560	0.615815	0.5546	0.5632	1	0	0	intronic	intronic	ncRNA_intronic	SSH2	SSH2	ENSG00000264031	Na	Na	Na	Na	Na	Na	Het;T>C	672;36|31	Hom;T>C	1862;0|64
N	N	-	17	28256807	28256807	C	G	snp	intronic	 	 	 	 	SSH2	Ssh2	ENSG00000141298	slingshot protein phosphatase 2	chr17:27952956-28257294	This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Colorectal Neoplasms|Microsatellite Instability|Stomach Neoplasms	 		GO:0006470;protein dephosphorylation;IMP|GO:0008064;regulation of actin polymerization or depolymerization;IBA|GO:0010591;regulation of lamellipodium assembly;IBA|GO:0016311;dephosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IMP|GO:0030335;positive regulation of cell migration;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050770;regulation of axonogenesis;IBA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0003779;actin binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SSH2	https://www.uniprot.org/uniprot/Q76I76		https://www.ncbi.nlm.nih.gov/omim/?term=606779	http://www.informatics.jax.org/searchtool/Search.do?query=SSH2&submit=Quick%0D%8139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSH2	rs7209622	0.59405	0	0	1	0	0	intronic	intronic	intronic	SSH2	SSH2	ENSG00000141298,ENSG00000176927	Na	Na	Na	Na	Na	Na	Het;C>G	51;1|3	Hom;C>G	97;0|3
N	N	-	17	28268800	28268800	A	C	snp	UTR5	-15A>C	 	 	 	EFCAB5	Efcab5	ENSG00000176927	EF-hand calcium binding domain 5	chr17:28256218-28435470			 				GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB5				http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB5&submit=Quick%0D%13939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB5	rs4567782	0.546326	0.4741	0.5739	1	0	0	UTR5	UTR5	UTR5	EFCAB5(NM_198529:c.-15A>C)	EFCAB5(uc002het.3:c.-15A>C)	ENSG00000176927(ENST00000378738:c.-15A>C,ENST00000394832:c.-15A>C,ENST00000320856:c.-15A>C,ENST00000394835:c.-15A>C,ENST00000440741:c.-15A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	2176;85|100	Hom;A>C	4907;2|180
N	N	-	17	28296327	28296327	T	G	snp	nonsynonymous SNV	T541G	L181V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EFCAB5	Efcab5	ENSG00000176927	EF-hand calcium binding domain 5	chr17:28256218-28435470			 				GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB5				http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB5&submit=Quick%0D%13939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB5	rs9897794	0.542332	0.4691	0.5288	0.23	3	13	exonic	exonic	exonic	EFCAB5	EFCAB5	ENSG00000176927	nonsynonymous SNV	nonsynonymous SNV	unknown	EFCAB5:NM_001145053:exon4:c.T541G:p.L181V,EFCAB5:NM_198529:exon4:c.T709G:p.L237V,	EFCAB5:uc002het.3:exon4:c.T709G:p.L237V,EFCAB5:uc010csf.3:exon1:c.T346G:p.L116V,EFCAB5:uc010cse.3:exon1:c.T346G:p.L116V,EFCAB5:uc010wbj.2:exon4:c.T541G:p.L181V,	UNKNOWN	Het;T>G	806;30|36	Hom;T>G	2042;0|68
N	N	-	17	2929392	2929392	G	A	snp	synonymous SNV	G1842A	P614P	hydrophobic,neutral	hydrophobic,neutral	RAP1GAP2	Rap1gap2	ENSG00000132359	RAP1 GTPase activating protein 2	chr17:2680350-2941033	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Myocardial Infarction; Death, Sudden, Cardiac; Stroke; Hypertension	Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations.	Rap1 signalling	GO:0008361;regulation of cell size;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IGI|GO:0031965;nuclear membrane;IDA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAP1GAP2	https://www.uniprot.org/uniprot/Q684P5			http://www.informatics.jax.org/searchtool/Search.do?query=RAP1GAP2&submit=Quick%0D%6658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1GAP2	rs55904912	0.428514	0.3624	0.4395	1	0	0	exonic	exonic	exonic	RAP1GAP2	RAP1GAP2	ENSG00000132359	synonymous SNV	synonymous SNV	unknown	RAP1GAP2:NM_015085:exon20:c.G1842A:p.P614P,RAP1GAP2:NM_001100398:exon19:c.G1797A:p.P599P,	RAP1GAP2:uc010ckd.3:exon20:c.G1842A:p.P614P,RAP1GAP2:uc010cke.3:exon19:c.G1797A:p.P599P,	UNKNOWN	Het;G>A	1146;50|55	Hom;G>A	3494;2|132
N	N	-	17	2929674	2929674	T	C	snp	synonymous SNV	T1896C	R632R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	RAP1GAP2	Rap1gap2	ENSG00000132359	RAP1 GTPase activating protein 2	chr17:2680350-2941033	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Myocardial Infarction; Death, Sudden, Cardiac; Stroke; Hypertension	Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations.	Rap1 signalling	GO:0008361;regulation of cell size;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IGI|GO:0031965;nuclear membrane;IDA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAP1GAP2	https://www.uniprot.org/uniprot/Q684P5			http://www.informatics.jax.org/searchtool/Search.do?query=RAP1GAP2&submit=Quick%0D%6658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1GAP2	rs12941934	0.581869	0.5664	0.6078	1	0	0	exonic	exonic	exonic	RAP1GAP2	RAP1GAP2	ENSG00000132359	synonymous SNV	synonymous SNV	unknown	RAP1GAP2:NM_015085:exon21:c.T1896C:p.R632R,RAP1GAP2:NM_001100398:exon20:c.T1851C:p.R617R,	RAP1GAP2:uc010ckd.3:exon21:c.T1896C:p.R632R,RAP1GAP2:uc010cke.3:exon20:c.T1851C:p.R617R,	UNKNOWN	Het;T>C	751;38|34	Hom;T>C	1649;0|60
N	N	-	17	2930129	2930129	G	T	snp	intronic	 	 	 	 	RAP1GAP2	Rap1gap2	ENSG00000132359	RAP1 GTPase activating protein 2	chr17:2680350-2941033	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Myocardial Infarction; Death, Sudden, Cardiac; Stroke; Hypertension	Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations.	Rap1 signalling	GO:0008361;regulation of cell size;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IGI|GO:0031965;nuclear membrane;IDA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAP1GAP2	https://www.uniprot.org/uniprot/Q684P5			http://www.informatics.jax.org/searchtool/Search.do?query=RAP1GAP2&submit=Quick%0D%6658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1GAP2	rs4790113	0.428514	0	0	1	0	0	intronic	intronic	intronic	RAP1GAP2	RAP1GAP2	ENSG00000132359	Na	Na	Na	Na	Na	Na	Het;G>T	77;2|4	Hom;G>T	99;0|4
N	N	-	17	2930223	2930223	T	C	snp	intronic	 	 	 	 	RAP1GAP2	Rap1gap2	ENSG00000132359	RAP1 GTPase activating protein 2	chr17:2680350-2941033	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Myocardial Infarction; Death, Sudden, Cardiac; Stroke; Hypertension	Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations.	Rap1 signalling	GO:0008361;regulation of cell size;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IGI|GO:0031965;nuclear membrane;IDA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAP1GAP2	https://www.uniprot.org/uniprot/Q684P5			http://www.informatics.jax.org/searchtool/Search.do?query=RAP1GAP2&submit=Quick%0D%6658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1GAP2	rs4790114	0.459065	0.36	0.4532	1	0	0	intronic	intronic	intronic	RAP1GAP2	RAP1GAP2	ENSG00000132359	Na	Na	Na	Na	Na	Na	Het;T>C	333;15|18	Hom;T>C	663;0|24
N	N	-	17	2930339	2930339	G	A	snp	synonymous SNV	G2082A	P694P	hydrophobic,neutral	hydrophobic,neutral	RAP1GAP2	Rap1gap2	ENSG00000132359	RAP1 GTPase activating protein 2	chr17:2680350-2941033	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Myocardial Infarction; Death, Sudden, Cardiac; Stroke; Hypertension	Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations.	Rap1 signalling	GO:0008361;regulation of cell size;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IGI|GO:0031965;nuclear membrane;IDA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAP1GAP2	https://www.uniprot.org/uniprot/Q684P5			http://www.informatics.jax.org/searchtool/Search.do?query=RAP1GAP2&submit=Quick%0D%6658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1GAP2	rs4790115	0.427316	0.3625	0.5130	1	0	0	exonic	exonic	exonic	RAP1GAP2	RAP1GAP2	ENSG00000132359	synonymous SNV	synonymous SNV	unknown	RAP1GAP2:NM_015085:exon22:c.G2082A:p.P694P,RAP1GAP2:NM_001100398:exon21:c.G2037A:p.P679P,	RAP1GAP2:uc010ckd.3:exon22:c.G2082A:p.P694P,RAP1GAP2:uc010cke.3:exon21:c.G2037A:p.P679P,	UNKNOWN	Het;G>A	731;37|37	Hom;G>A	1244;0|45
N	N	-	17	2935577	2935577	T	G	snp	intronic	 	 	 	 	RAP1GAP2	Rap1gap2	ENSG00000132359	RAP1 GTPase activating protein 2	chr17:2680350-2941033	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Myocardial Infarction; Death, Sudden, Cardiac; Stroke; Hypertension	Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations.	Rap1 signalling	GO:0008361;regulation of cell size;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IGI|GO:0031965;nuclear membrane;IDA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAP1GAP2	https://www.uniprot.org/uniprot/Q684P5			http://www.informatics.jax.org/searchtool/Search.do?query=RAP1GAP2&submit=Quick%0D%6658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1GAP2	rs4239038	0.623602	0	0	1	0	0	intronic	intronic	intronic	RAP1GAP2	RAP1GAP2	ENSG00000132359	Na	Na	Na	Na	Na	Na	Het;T>G	148;5|6	Hom;T>G	506;0|12
N	N	-	17	29952261	29952261	G	A	snp	ncRNA_intronic	 	 	 	 	AC007923.4																		rs439412	0.869808	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR365B(dist=49721),COPRS(dist=226623)	MIR365B(dist=49721),COPRS(dist=226623)	ENSG00000266877	Na	Na	Na	Na	Na	Na	Het;G>A	125;2|5	Hom;G>A	144;0|5
N	N	-	17	30002409	30002409	T	C	snp	intergenic	 	 	 	 	AC007923.4																		rs67929938	0.265575	0	0	1	0	0	intergenic	intergenic	intergenic	MIR365B(dist=99869),COPRS(dist=176475)	MIR365B(dist=99869),COPRS(dist=176475)	ENSG00000266877(dist=37847),ENSG00000266448(dist=34178)	Na	Na	Na	Na	Na	Na	Het;T>C	452;18|21	Hom;T>C	827;0|32
N	N	-	17	30014833	30014833	C	T	snp	intergenic	 	 	 	 	AC007923.4																		rs6505256	0.323882	0	0	1	0	0	intergenic	intergenic	intergenic	MIR365B(dist=112293),COPRS(dist=164051)	MIR365B(dist=112293),COPRS(dist=164051)	ENSG00000266877(dist=50271),ENSG00000266448(dist=21754)	Na	Na	Na	Na	Na	Na	Het;C>T	41;6|4	Hom;C>T	141;0|7
N	N	-	17	30222002	30222002	T	C	snp	nonsynonymous SNV	A206G	Q69R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	UTP6	Utp6	ENSG00000108651	UTP6, small subunit processome component	chr17:30187923-30228784		Fibrinogen	 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0006396;RNA processing;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0032040;small-subunit processome;IBA|GO:0034388;Pwp2p-containing subcomplex of 90S preribosome;IBA	GO:0030515;snoRNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UTP6	https://www.uniprot.org/uniprot/Q9NYH9			http://www.informatics.jax.org/searchtool/Search.do?query=UTP6&submit=Quick%0D%3750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP6	rs3760454	0.355431	0.3309	0.4413	0.38	5	13	exonic	exonic	exonic	UTP6	UTP6	ENSG00000108651	nonsynonymous SNV	nonsynonymous SNV	unknown	UTP6:NM_018428:exon3:c.A206G:p.Q69R,	UTP6:uc010wbw.1:exon3:c.A206G:p.Q69R,UTP6:uc002hgr.3:exon3:c.A206G:p.Q69R,	UNKNOWN	Het;T>C	610;30|33	Hom;T>C	1188;0|47
N	N	-	17	30411449	30411449	G	A	snp	ncRNA_intronic	 	 	 	 	AC090616.2																		rs148274545	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LRRC37B(dist=30930),RHOT1(dist=58024)	LRRC37B(dist=30930),RHOT1(dist=58024)	ENSG00000264164	Na	Na	Na	Na	Na	Na	Het;G>A	67;1|4	Hom;G>A	102;0|5
N	N	-	17	3119673	3119673	A	G	snp	synonymous SNV	A759G	T253T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OR1A1	Olfr43	ENSG00000172146	olfactory receptor family 1 subfamily A member 1	chr17:3118915-3119844	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR1A1				http://www.informatics.jax.org/searchtool/Search.do?query=OR1A1&submit=Quick%0D%13088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1A1	rs769426	0.128994	0.2375	0.2145	1	0	0	exonic	exonic	exonic	OR1A1	OR1A1	ENSG00000172146	synonymous SNV	synonymous SNV	unknown	OR1A1:NM_014565:exon1:c.A759G:p.T253T,	OR1A1:uc010vrc.2:exon1:c.A759G:p.T253T,	UNKNOWN	Het;A>G	1150;45|50	Hom;A>G	2795;1|94
N	N	-	17	3168978	3168978	A	G	snp	ncRNA_exonic	 	 	 	 	AC090282.2																		rs769428	0.475639	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR1D4(dist=24419),OR3A2(dist=12206)	OR1D4(dist=24419),OR3A2(dist=12206)	ENSG00000262106	Na	Na	Na	Na	Na	Na	Het;A>G	690;38|33	Hom;A>G	1928;0|72
N	N	-	17	3169187	3169187	A	G	snp	ncRNA_exonic	 	 	 	 	AC090282.2																		rs2459527	0.459465	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR1D4(dist=24628),OR3A2(dist=11997)	OR1D4(dist=24628),OR3A2(dist=11997)	ENSG00000262106	Na	Na	Na	Na	Na	Na	Het;A>G	123;7|6	Hom;A>G	281;0|10
N	N	-	17	3169458	3169458	A	G	snp	ncRNA_exonic	 	 	 	 	AC090282.2																		rs2062184	0.475839	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR1D4(dist=24899),OR3A2(dist=11726)	OR1D4(dist=24899),OR3A2(dist=11726)	ENSG00000262106	Na	Na	Na	Na	Na	Na	Het;A>G	232;6|8	Hom;A>G	478;0|17
N	N	-	17	31719198	31719214	TTCCTTCCTTCCTTCCC	T	indel	intronic	 	 	 	 	ASIC2	Asic2	ENSG00000108684	acid sensing ion channel subunit 2	chr17:31340105-32501983	This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]	F8 protein, human; Alcoholism; Gout; Narcolepsy; Hypothyroidism; Stroke; Tobacco Use Disorder; Body Mass Index; Coronary Artery Disease; multiple sclerosis; C-Reactive Protein; Leukocyte Count; autism; Body Weight	Mice homozygous for a knock-out allele exhibit decreased mechanoreceptor and spiral ganglion electrophysiology and decreased pressure-induced blood vessel constriction.  Mice homozygous for a different knock-out allele exhibit retinal degeneration and abnormal eye electrophysiology.	Stimuli-sensing channels	GO:0003026;regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007417;central nervous system development;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0007602;phototransduction;IEA|GO:0007605;sensory perception of sound;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010468;regulation of gene expression;IMP|GO:0015672;monovalent inorganic cation transport;TAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0030193;regulation of blood coagulation;IMP|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035418;protein localization to synapse;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050974;detection of mechanical stimulus involved in sensory perception;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015280;ligand-gated sodium channel activity;TAS|GO:0022839;ion gated channel activity;IEA|GO:0044736;acid-sensing ion channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ASIC2	https://www.uniprot.org/uniprot/Q16515		https://www.ncbi.nlm.nih.gov/omim/?term=601784	http://www.informatics.jax.org/searchtool/Search.do?query=ASIC2&submit=Quick%0D%3756ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASIC2	rs199614993	0	0	0	1	0	0	intronic	intronic	intronic	ASIC2	ASIC2	ENSG00000108684	Na	Na	Na	Na	Na	Na	Het;-TCCTTCCTTCCTTCCC	723;14|20	Hom;-TCCTTCCTTCCTTCCC	1054;3|28
N	N	-	17	32904586	32904586	C	T	snp	nonsynonymous SNV	G464A	R155K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	C17orf102																		rs887230	0.796526	0.8575	0.8248	1	0	0	exonic	exonic	exonic	C17orf102	C17orf102	ENSG00000197322	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf102:NM_207454:exon2:c.G464A:p.R155K,	C17orf102:uc002hie.1:exon2:c.G464A:p.R155K,	UNKNOWN	Het;C>T	844;75|49	Hom;C>T	2490;0|95
N	N	-	17	32908064	32908064	T	C	snp	UTR5	-32T>C	 	 	 	TMEM132E	Tmem132e	ENSG00000181291	transmembrane protein 132E	chr17:32907768-32966337		Albumins; Coronary Disease; Stroke; Arteries	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM132E			https://www.ncbi.nlm.nih.gov/omim/?term=616178	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132E&submit=Quick%0D%14602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132E	rs4795938	0.865415	0.8947	0.8465	1	0	0	UTR5	UTR5	UTR5	TMEM132E(NM_207313:c.-32T>C,NM_001304438:c.-32T>C)	TMEM132E(uc002hif.3:c.-32T>C)	ENSG00000181291(ENST00000321639:c.-32T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	273;11|14	Hom;T>C	535;0|21
N	N	-	17	32956933	32956933	T	TG	indel	intronic	 	 	 	 	TMEM132E	Tmem132e	ENSG00000181291	transmembrane protein 132E	chr17:32907768-32966337		Albumins; Coronary Disease; Stroke; Arteries	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM132E			https://www.ncbi.nlm.nih.gov/omim/?term=616178	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132E&submit=Quick%0D%14602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132E	rs375949886	0.564097	0	0	1	0	0	intronic	intronic	intronic	TMEM132E	TMEM132E	ENSG00000181291	Na	Na	Na	Na	Na	Na	Het;+G	315;24|17	Hom;+G	1163;2|43
N	N	-	17	32961751	32961751	C	A	snp	intronic	 	 	 	 	TMEM132E	Tmem132e	ENSG00000181291	transmembrane protein 132E	chr17:32907768-32966337		Albumins; Coronary Disease; Stroke; Arteries	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM132E			https://www.ncbi.nlm.nih.gov/omim/?term=616178	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132E&submit=Quick%0D%14602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132E	rs2058164	0.737819	0	0	1	0	0	intronic	intronic	intronic	TMEM132E	TMEM132E	ENSG00000181291	Na	Na	Na	Na	Na	Na	Het;C>A	321;7|12	Hom;C>A	494;0|15
N	N	-	17	32965617	32965617	G	C	snp	UTR3	*366G>C	 	 	 	TMEM132E	Tmem132e	ENSG00000181291	transmembrane protein 132E	chr17:32907768-32966337		Albumins; Coronary Disease; Stroke; Arteries	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM132E			https://www.ncbi.nlm.nih.gov/omim/?term=616178	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132E&submit=Quick%0D%14602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132E	rs11650798	0.715655	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM132E(NM_207313:c.*366G>C,NM_001304438:c.*366G>C)	TMEM132E(uc002hif.3:c.*366G>C)	ENSG00000181291(ENST00000321639:c.*366G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	92;2|5	Hom;G>C	253;0|10
N	N	-	17	33185780	33185780	C	T	snp	ncRNA_intronic	 	 	 	 	AC022903.1																		rs234833	0.240016	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TMEM132E(dist=219438),CCT6B(dist=69098)	TMEM132E(dist=219443),CCT6B(dist=69098)	ENSG00000264622	Na	Na	Na	Na	Na	Na	Het;C>T	117;7|7	Hom;C>T	60;0|3
N	N	-	17	33454415	33454415	C	A	snp	synonymous SNV	C564A	T188T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FNDC8	Fndc8	ENSG00000073598	fibronectin type III domain containing 8	chr17:33448598-33457751		Chronic renal failure|Kidney Failure, Chronic	Male mice homozygous for a null allele exhibit normal fecundity.			GO:0005634;nucleus;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC8	https://www.uniprot.org/uniprot/Q8TC99			http://www.informatics.jax.org/searchtool/Search.do?query=FNDC8&submit=Quick%0D%1473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC8	rs2306508	0.444489	0.3344	0.4577	1	0	0	exonic	exonic	exonic	FNDC8	FNDC8	ENSG00000073598	synonymous SNV	synonymous SNV	unknown	FNDC8:NM_017559:exon2:c.C564A:p.T188T,	FNDC8:uc002hix.3:exon2:c.C564A:p.T188T,	UNKNOWN	Het;C>A	1257;71|60	Hom;C>A	2908;1|103
N	N	-	17	33463568	33463568	C	T	snp	intronic	 	 	 	 	NLE1	Nle1	ENSG00000073536	notchless homolog 1	chr17:33455772-33469334			Homozygous null mice display embryonic lethality before somite formation, most blastocysts fail to hatch out of the zona pellucida, and apoptosis is increased in the inner cell mass.		GO:0000027;ribosomal large subunit assembly;IBA|GO:0001756;somitogenesis;IEA|GO:0001822;kidney development;IEA|GO:0001826;inner cell mass cell differentiation;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0042273;ribosomal large subunit biogenesis;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0061484;hematopoietic stem cell homeostasis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA		http://www.genecards.org/index.php?path=/Search/keyword/NLE1	https://www.uniprot.org/uniprot/Q9NVX2			http://www.informatics.jax.org/searchtool/Search.do?query=NLE1&submit=Quick%0D%1470ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLE1	rs3736143	0.566693	0.4637	0.5222	1	0	0	intronic	intronic	intronic	NLE1	NLE1	ENSG00000073536	Na	Na	Na	Na	Na	Na	Het;C>T	560;54|33	Hom;C>T	1992;1|77
N	N	-	17	33687416	33687416	C	T	snp	intronic	 	 	 	 	SLFN11	Slfn8	ENSG00000172716	schlafen family member 11	chr17:33677324-33700720			 		GO:0002376;immune system process;IEA|GO:0051607;defense response to virus;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA	GO:0000049;tRNA binding;IDA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLFN11			https://www.ncbi.nlm.nih.gov/omim/?term=614953	http://www.informatics.jax.org/searchtool/Search.do?query=SLFN11&submit=Quick%0D%13211ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN11	rs938298	0.455671	0.3467	0.3218	1	0	0	intronic	intronic	intronic	SLFN11	SLFN11	ENSG00000172716	Na	Na	Na	Na	Na	Na	Het;C>T	527;31|24	Hom;C>T	1536;0|55
N	N	-	17	33718077	33718077	G	T	snp	intergenic	 	 	 	 	AC060766.3																		rs2263090	0.336861	0	0	1	0	0	intergenic	intergenic	intergenic	SLFN11(dist=17357),SLFN12(dist=19864)	SLFN11(dist=17357),SLFN12(dist=20004)	ENSG00000267315(dist=13380),ENSG00000267711(dist=9820)	Na	Na	Na	Na	Na	Na	Het;G>T	320;6|13	Hom;G>T	686;0|23
N	N	-	17	33748939	33748939	G	A	snp	intronic	 	 	 	 	SLFN12	Slfn3	ENSG00000172123	schlafen family member 12	chr17:33738079-33760302			 				GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLFN12			https://www.ncbi.nlm.nih.gov/omim/?term=614955	http://www.informatics.jax.org/searchtool/Search.do?query=SLFN12&submit=Quick%0D%13086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN12	rs2671817	0.391773	0	0	1	0	0	intronic	intronic	intronic	SLFN12	SLFN12	ENSG00000172123	Na	Na	Na	Na	Na	Na	Het;G>A	308;5|12	Hom;G>A	412;1|14
N	N	-	17	33749546	33749546	A	G	snp	nonsynonymous SNV	T502C	C168R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	SLFN12	Slfn3	ENSG00000172123	schlafen family member 12	chr17:33738079-33760302			 				GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLFN12			https://www.ncbi.nlm.nih.gov/omim/?term=614955	http://www.informatics.jax.org/searchtool/Search.do?query=SLFN12&submit=Quick%0D%13086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN12	rs2586514	0.589856	0.6080	0.6029	0.08	1	12	exonic	exonic	exonic	SLFN12	SLFN12	ENSG00000172123	nonsynonymous SNV	nonsynonymous SNV	unknown	SLFN12:NM_001289009:exon2:c.T502C:p.C168R,SLFN12:NM_018042:exon2:c.T502C:p.C168R,	SLFN12:uc002hjj.4:exon4:c.T502C:p.C168R,SLFN12:uc002hji.4:exon2:c.T502C:p.C168R,SLFN12:uc010cts.3:exon2:c.T502C:p.C168R,	UNKNOWN	Het;A>G	806;61|39	Hom;A>G	3133;0|104
N	N	-	17	33749919	33749919	A	C	snp	nonsynonymous SNV	T129G	S43R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	SLFN12	Slfn3	ENSG00000172123	schlafen family member 12	chr17:33738079-33760302			 				GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLFN12			https://www.ncbi.nlm.nih.gov/omim/?term=614955	http://www.informatics.jax.org/searchtool/Search.do?query=SLFN12&submit=Quick%0D%13086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN12	rs1849733	0.376198	0.4336	0.4524	0.08	1	12	exonic	exonic	exonic	SLFN12	SLFN12	ENSG00000172123	nonsynonymous SNV	nonsynonymous SNV	unknown	SLFN12:NM_001289009:exon2:c.T129G:p.S43R,SLFN12:NM_018042:exon2:c.T129G:p.S43R,	SLFN12:uc002hjj.4:exon4:c.T129G:p.S43R,SLFN12:uc002hji.4:exon2:c.T129G:p.S43R,SLFN12:uc010cts.3:exon2:c.T129G:p.S43R,	UNKNOWN	Het;A>C	1741;96|80	Hom;A>C	4856;0|180
N	N	-	17	33902284	33902284	T	C	snp	UTR3	*517A>G	 	 	 	PEX12	Pex12	ENSG00000108733	peroxisomal biogenesis factor 12	chr17:33901814-33905882	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]	ZELLWEGER SYNDROME	 	E3 ubiquitin ligases ubiquitinate target proteins	GO:0006513;protein monoubiquitination;IBA|GO:0006625;protein targeting to peroxisome;NAS|GO:0007031;peroxisome organization;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0016567;protein ubiquitination;TAS	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:1990429;peroxisomal importomer complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008270;zinc ion binding;IMP|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PEX12	https://www.uniprot.org/uniprot/O00623	https://hpo.jax.org/app/browse/search?q=PEX12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601758	http://www.informatics.jax.org/searchtool/Search.do?query=PEX12&submit=Quick%0D%3761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX12	rs1046321	0.319089	0	0	1	0	0	UTR3	UTR3	UTR3	PEX12(NM_000286:c.*517A>G)	PEX12(uc002hjp.3:c.*517A>G)	ENSG00000108733(ENST00000225873:c.*517A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1335;71|67	Hom;T>C	2353;2|92
N	N	-	17	3414160	3414160	T	C	snp	UTR3	*3667A>G	 	 	 	TRPV3	Trpv3	ENSG00000167723	transient receptor potential cation channel subfamily V member 3	chr17:3413796-3461289	This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Olmsted syndrome	Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV3		https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607066	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3	rs2271158	0.434305	0	0	1	0	0	UTR3	UTR3	UTR3	TRPV3(NM_001258205:c.*3051A>G,NM_145068:c.*3051A>G)	TRPV3(uc010vrl.2:c.*3051A>G,uc010vrh.2:c.*3051A>G,uc010vri.2:c.*3051A>G,uc002fvr.3:c.*3051A>G,uc002fvt.2:c.*3051A>G,uc010vrj.2:c.*3051A>G)	ENSG00000167723(ENST00000381913:c.*3667A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	954;30|40	Hom;T>C	1738;0|63
N	N	-	17	3415678	3415678	T	G	snp	UTR3	*2149A>C	 	 	 	TRPV3	Trpv3	ENSG00000167723	transient receptor potential cation channel subfamily V member 3	chr17:3413796-3461289	This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Olmsted syndrome	Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV3		https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607066	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3	rs1507614	0.434105	0	0	1	0	0	UTR3	UTR3	UTR3	TRPV3(NM_001258205:c.*1533A>C,NM_145068:c.*1533A>C)	TRPV3(uc010vrl.2:c.*1533A>C,uc010vrh.2:c.*1533A>C,uc010vri.2:c.*1533A>C,uc002fvr.3:c.*1533A>C,uc002fvt.2:c.*1533A>C,uc010vrj.2:c.*1533A>C)	ENSG00000167723(ENST00000381913:c.*2149A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	698;27|32	Hom;T>G	865;0|32
N	N	-	17	3422032	3422032	G	A	snp	synonymous SNV	C1923T	D641D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TRPV3	Trpv3	ENSG00000167723	transient receptor potential cation channel subfamily V member 3	chr17:3413796-3461289	This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Olmsted syndrome	Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV3		https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607066	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3	rs7216486	0.66893	0.5294	0.5999	1	0	0	exonic	exonic	exonic	TRPV3	TRPV3	ENSG00000167723	synonymous SNV	synonymous SNV	unknown	TRPV3:NM_001258205:exon15:c.C1923T:p.D641D,TRPV3:NM_145068:exon15:c.C1923T:p.D641D,	TRPV3:uc002fvr.3:exon15:c.C1923T:p.D641D,TRPV3:uc010vri.2:exon13:c.C1788T:p.D596D,TRPV3:uc010vrj.2:exon16:c.C1875T:p.D625D,TRPV3:uc010vrl.2:exon14:c.C1875T:p.D625D,TRPV3:uc002fvu.3:exon15:c.C1923T:p.D641D,TRPV3:uc002fvt.2:exon15:c.C1923T:p.D641D,TRPV3:uc010vrh.2:exon14:c.C1875T:p.D625D,	UNKNOWN	Het;G>A	1598;83|76	Hom;G>A	4188;0|158
N	N	-	17	3424220	3424220	A	G	snp	intronic	 	 	 	 	TRPV3	Trpv3	ENSG00000167723	transient receptor potential cation channel subfamily V member 3	chr17:3413796-3461289	This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Olmsted syndrome	Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV3		https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607066	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3	rs72634011	0.265775	0.1324	0.2217	1	0	0	intronic	intronic	intronic	TRPV3	TRPV3	ENSG00000167723	Na	Na	Na	Na	Na	Na	Het;A>G	349;10|15	Hom;A>G	411;0|15
N	N	-	17	34758508	34758508	C	G	snp	intronic	 	 	 	 	TBC1D3F	 	ENSG00000282087	TBC1 domain family member 3F	chr17:36283971-36294915			 					http://www.genecards.org/index.php?path=/Search/keyword/TBC1D3F			https://www.ncbi.nlm.nih.gov/omim/?term=610809	http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D3F&submit=Quick%0D%22397ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D3F	rs151319727	0.628195	0	0	1	0	0	intronic	intronic	intronic	TBC1D3F	TBC1D3G,TBC1D3H	ENSG00000161583,ENSG00000242384	Na	Na	Na	Na	Na	Na	Het;C>G	44;4|2	Hom;C>G	242;0|6
N	N	-	17	3492998	3492998	G	A	snp	intronic	 	 	 	 	TRPV1	Trpv1	ENSG00000196689	transient receptor potential cation channel subfamily V member 1	chr17:3468738-3500392	Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; null; Autism; asthma; C-Reactive Protein; Obesity	Homozygous mutant mice demonstrate abnormal nociception, abnormal anxiety- and conditioning-related behaviors, increased sensitivity to DOCA-salt-induced renal damage, resistance to diet-induced obesity, altered taste sensitivity, and impaired febrile response.	TRP channels	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001659;temperature homeostasis;IEA|GO:0001660;fever generation;IEA|GO:0001774;microglial cell activation;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002790;peptide secretion;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006954;inflammatory response;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007635;chemosensory behavior;TAS|GO:0009268;response to pH;IEA|GO:0009408;response to heat;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014047;glutamate secretion;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0019233;sensory perception of pain;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0050954;sensory perception of mechanical stimulus;IEA|GO:0050955;thermoception;IDA|GO:0050960;detection of temperature stimulus involved in thermoception;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050968;detection of chemical stimulus involved in sensory perception of pain;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0055085;transmembrane transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060083;smooth muscle contraction involved in micturition;IEA|GO:0060454;positive regulation of gastric acid secretion;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071312;cellular response to alkaloid;ISS|GO:0071318;cellular response to ATP;ISS|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071468;cellular response to acidic pH;IDA|GO:0071502;cellular response to temperature stimulus;IEA|GO:0090212;negative regulation of establishment of blood-brain barrier;IEA|GO:0098703;calcium ion import across plasma membrane;IDA|GO:1901594;response to capsazepine;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IEA	GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031226;intrinsic component of plasma membrane;ISS|GO:0032591;dendritic spine membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IDA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;ISS|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015276;ligand-gated ion channel activity;IEA|GO:0015278;calcium-release channel activity;ISS|GO:0017081;chloride channel regulator activity;IEA|GO:0035091;phosphatidylinositol binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051219;phosphoprotein binding;IPI|GO:0097603;temperature-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRPV1			https://www.ncbi.nlm.nih.gov/omim/?term=602076	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV1&submit=Quick%0D%16441ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV1	rs12936340	0.398762	0	0	1	0	0	intronic	intronic	intronic	TRPV1	TRPV1	ENSG00000196689,ENSG00000262304	Na	Na	Na	Na	Na	Na	Het;G>A	110;8|7	Hom;G>A	161;0|6
N	N	-	17	3493200	3493200	C	G	snp	nonsynonymous SNV	G945C	M315I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRPV1	Trpv1	ENSG00000196689	transient receptor potential cation channel subfamily V member 1	chr17:3468738-3500392	Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; null; Autism; asthma; C-Reactive Protein; Obesity	Homozygous mutant mice demonstrate abnormal nociception, abnormal anxiety- and conditioning-related behaviors, increased sensitivity to DOCA-salt-induced renal damage, resistance to diet-induced obesity, altered taste sensitivity, and impaired febrile response.	TRP channels	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001659;temperature homeostasis;IEA|GO:0001660;fever generation;IEA|GO:0001774;microglial cell activation;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002790;peptide secretion;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006954;inflammatory response;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007635;chemosensory behavior;TAS|GO:0009268;response to pH;IEA|GO:0009408;response to heat;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014047;glutamate secretion;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0019233;sensory perception of pain;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0050954;sensory perception of mechanical stimulus;IEA|GO:0050955;thermoception;IDA|GO:0050960;detection of temperature stimulus involved in thermoception;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050968;detection of chemical stimulus involved in sensory perception of pain;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0055085;transmembrane transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060083;smooth muscle contraction involved in micturition;IEA|GO:0060454;positive regulation of gastric acid secretion;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071312;cellular response to alkaloid;ISS|GO:0071318;cellular response to ATP;ISS|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071468;cellular response to acidic pH;IDA|GO:0071502;cellular response to temperature stimulus;IEA|GO:0090212;negative regulation of establishment of blood-brain barrier;IEA|GO:0098703;calcium ion import across plasma membrane;IDA|GO:1901594;response to capsazepine;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IEA	GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031226;intrinsic component of plasma membrane;ISS|GO:0032591;dendritic spine membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IDA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;ISS|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015276;ligand-gated ion channel activity;IEA|GO:0015278;calcium-release channel activity;ISS|GO:0017081;chloride channel regulator activity;IEA|GO:0035091;phosphatidylinositol binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051219;phosphoprotein binding;IPI|GO:0097603;temperature-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRPV1			https://www.ncbi.nlm.nih.gov/omim/?term=602076	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV1&submit=Quick%0D%16441ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV1	rs222747	0.733427	0.8027	0.7525	0.08	1	13	exonic	exonic	exonic	TRPV1	TRPV1	ENSG00000196689,ENSG00000262304	nonsynonymous SNV	nonsynonymous SNV	unknown	TRPV1:NM_080704:exon7:c.G945C:p.M315I,TRPV1:NM_080705:exon6:c.G945C:p.M315I,TRPV1:NM_018727:exon6:c.G945C:p.M315I,TRPV1:NM_080706:exon5:c.G945C:p.M315I,	TRPV1:uc010vrp.2:exon5:c.G945C:p.M315I,TRPV1:uc010vrs.2:exon6:c.G945C:p.M315I,TRPV1:uc010vro.2:exon5:c.G945C:p.M315I,TRPV1:uc010vrq.2:exon4:c.G939C:p.M313I,TRPV1:uc010vru.2:exon7:c.G945C:p.M315I,TRPV1:uc010vrr.2:exon5:c.G945C:p.M315I,TRPV1:uc010vrt.2:exon6:c.G945C:p.M315I,	UNKNOWN	Het;C>G	1082;59|51	Hom;C>G	2034;0|70
N	N	-	17	3493769	3493769	G	A	snp	intronic	 	 	 	 	TRPV1	Trpv1	ENSG00000196689	transient receptor potential cation channel subfamily V member 1	chr17:3468738-3500392	Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; null; Autism; asthma; C-Reactive Protein; Obesity	Homozygous mutant mice demonstrate abnormal nociception, abnormal anxiety- and conditioning-related behaviors, increased sensitivity to DOCA-salt-induced renal damage, resistance to diet-induced obesity, altered taste sensitivity, and impaired febrile response.	TRP channels	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001659;temperature homeostasis;IEA|GO:0001660;fever generation;IEA|GO:0001774;microglial cell activation;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002790;peptide secretion;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006954;inflammatory response;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007635;chemosensory behavior;TAS|GO:0009268;response to pH;IEA|GO:0009408;response to heat;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014047;glutamate secretion;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0019233;sensory perception of pain;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0050954;sensory perception of mechanical stimulus;IEA|GO:0050955;thermoception;IDA|GO:0050960;detection of temperature stimulus involved in thermoception;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050968;detection of chemical stimulus involved in sensory perception of pain;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0055085;transmembrane transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060083;smooth muscle contraction involved in micturition;IEA|GO:0060454;positive regulation of gastric acid secretion;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071312;cellular response to alkaloid;ISS|GO:0071318;cellular response to ATP;ISS|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071468;cellular response to acidic pH;IDA|GO:0071502;cellular response to temperature stimulus;IEA|GO:0090212;negative regulation of establishment of blood-brain barrier;IEA|GO:0098703;calcium ion import across plasma membrane;IDA|GO:1901594;response to capsazepine;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IEA	GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031226;intrinsic component of plasma membrane;ISS|GO:0032591;dendritic spine membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IDA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;ISS|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015276;ligand-gated ion channel activity;IEA|GO:0015278;calcium-release channel activity;ISS|GO:0017081;chloride channel regulator activity;IEA|GO:0035091;phosphatidylinositol binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051219;phosphoprotein binding;IPI|GO:0097603;temperature-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRPV1			https://www.ncbi.nlm.nih.gov/omim/?term=602076	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV1&submit=Quick%0D%16441ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV1	rs7502670	0.540535	0	0	1	0	0	intronic	intronic	intronic	TRPV1	TRPV1	ENSG00000196689,ENSG00000262304	Na	Na	Na	Na	Na	Na	Het;G>A	501;29|22	Hom;G>A	1342;0|49
N	N	-	17	35219205	35219205	T	C	snp	ncRNA_exonic	 	 	 	 	ENSG00000255509																		rs2270662	0.609625	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MRM1(dist=253798),LHX1(dist=75567)	7SK(dist=180244),BC084573(dist=70204)	ENSG00000255509	Na	Na	Na	Na	Na	Na	Het;T>C	1317;50|59	Hom;T>C	3279;1|120
N	N	-	17	35264232	35264232	G	C	snp	ncRNA_intronic	 	 	 	 	ENSG00000255509																		rs3744592	0.354233	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MRM1(dist=298825),LHX1(dist=30540)	7SK(dist=225271),BC084573(dist=25177)	ENSG00000255509	Na	Na	Na	Na	Na	Na	Het;G>C	173;11|7	Hom;G>C	556;0|19
N	N	-	17	35264337	35264337	A	T	snp	ncRNA_exonic	 	 	 	 	ENSG00000255509																		rs3744591	0.354233	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MRM1(dist=298930),LHX1(dist=30435)	7SK(dist=225376),BC084573(dist=25072)	ENSG00000255509	Na	Na	Na	Na	Na	Na	Het;A>T	1334;70|68	Hom;A>T	3200;0|118
N	N	-	17	35346641	35346641	T	C	snp	synonymous SNV	T1245C	S415S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AATF	Aatf	ENSG00000276072	apoptosis antagonizing transcription factor	chr17:35306175-35414171	The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]	obesity; kidney aging; breast cancer	Homozygous embryos do not develop past the compacted morula stage, and after failing to maintain compaction. Mutant embryos show abnormal morphology at E3.5, with most not forming a blastocoel cavity. Severely reduced cell proliferation is observed before blastocyst formation.	NRAGE signals death through JNK	GO:0006974;cellular response to DNA damage stimulus;IEP|GO:0032929;negative regulation of superoxide anion generation;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:2000378;negative regulation of reactive oxygen species metabolic process;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043522;leucine zipper domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AATF			https://www.ncbi.nlm.nih.gov/omim/?term=608463	http://www.informatics.jax.org/searchtool/Search.do?query=AATF&submit=Quick%0D%21520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AATF	rs1045056	0.156749	0.2427	0.2519	1	0	0	exonic	exonic	exonic	AATF	AATF	ENSG00000108270	synonymous SNV	synonymous SNV	unknown	AATF:NM_012138:exon7:c.T1245C:p.S415S,	AATF:uc002hni.3:exon7:c.T1245C:p.S415S,	UNKNOWN	Het;T>C	1010;52|46	Hom;T>C	2665;0|100
N	N	-	17	3565103	3565103	A	G	snp	UTR3	*1440A>G	 	 	 	CTNS	Ctns	ENSG00000040531	cystinosin, lysosomal cystine transporter	chr17:3539762-3564836	This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]	blood pressure, arterial hypertension	Homozygotes for a targeted null mutation exhibit increased intracellular cystine, progressive accumulation of cystine crystals, occasional muscle impairment, reduced exploratory activity, osteoporosis, and lowered electroretinogram amplitude.	Miscellaneous transport and binding events	GO:0002088;lens development in camera-type eye;IEA|GO:0006520;cellular amino acid metabolic process;NAS|GO:0006749;glutathione metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0007420;brain development;IMP|GO:0007616;long-term memory;IEA|GO:0007625;grooming behavior;IEA|GO:0007628;adult walking behavior;IEA|GO:0008542;visual learning;IEA|GO:0015811;L-cystine transport;IMP|GO:0042438;melanin biosynthetic process;IEA|GO:0046034;ATP metabolic process;IMP|GO:0050890;cognition;IMP|GO:0055085;transmembrane transport;TAS	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;TAS|GO:0005770;late endosome;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042470;melanosome;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0015184;L-cystine transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CTNS	https://www.uniprot.org/uniprot/O60931	https://hpo.jax.org/app/browse/search?q=CTNS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606272	http://www.informatics.jax.org/searchtool/Search.do?query=CTNS&submit=Quick%0D%819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNS	rs161398	0.742013	0	0	1	0	0	UTR3	UTR3	downstream	CTNS(NM_004937:c.*1440A>G,NM_001031681:c.*1075A>G)	CTNS(uc002fwa.3:c.*1075A>G,uc002fwb.3:c.*1440A>G,uc010ckj.3:c.*1075A>G,uc010vrv.2:c.*1440A>G,uc010vrw.2:c.*1075A>G)	ENSG00000040531	Na	Na	Na	Na	Na	Na	Het;A>G	1250;65|61	Hom;A>G	2325;0|81
N	N	-	17	36047276	36047276	G	T	snp	UTR3	*99C>A	 	 	 	ENSG00000108753																		rs2229295	0.268371	0	0.1999	1	0	0	UTR3	UTR3	UTR3	HNF1B(NM_000458:c.*99C>A,NM_001165923:c.*99C>A,NM_001304286:c.*7C>A)	HNF1B(uc021tvu.1:c.*99C>A,uc010wdi.2:c.*99C>A,uc002hok.4:c.*99C>A,uc021tvv.1:c.*7C>A,uc021tvw.1:c.*7C>A)	ENSG00000108753(ENST00000225893:c.*99C>A,ENST00000561193:c.*99C>A,ENST00000427275:c.*7C>A,ENST00000560016:c.*7C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1266;67|61	Hom;G>T	4705;0|130
N	N	-	17	36233930	36233930	G	A	snp	ncRNA_exonic	 	 	 	 	YWHAEP7																		rs2677184	0.490216	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	YWHAEP7	LOC284100	ENSG00000267671	Na	Na	Na	Na	Na	Na	Het;G>A	1748;80|85	Hom;G>A	4406;0|168
N	N	-	17	36243630	36243630	C	A	snp	ncRNA_exonic	 	 	 	 	YWHAEP7																		rs1964698	0.577077	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	YWHAEP7	LOC284100	ENSG00000267671	Na	Na	Na	Na	Na	Na	Het;C>A	786;43|41	Hom;C>A	2378;0|93
N	N	-	17	36243668	36243668	T	A	snp	ncRNA_intronic	 	 	 	 	LOC284100																		rs1963085	0.577476	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	YWHAEP7	LOC284100	ENSG00000267671	Na	Na	Na	Na	Na	Na	Het;T>A	592;35|30	Hom;T>A	1778;0|69
N	N	-	17	36244358	36244358	A	G	snp	ncRNA_exonic	 	 	 	 	YWHAEP7																		rs1963088	0.507388	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	YWHAEP7	LOC284100	ENSG00000267671	Na	Na	Na	Na	Na	Na	Het;A>G	179;14|10	Hom;A>G	750;0|27
N	N	-	17	3627840	3627840	G	A	snp	nonsynonymous SNV	G611A	G204D	aliphatic,neutral	polar,hydrophilic,charged(-)	GSG2	Gsg2	ENSG00000177602	histone H3 associated protein kinase	chr17:3627211-3630067			Male mice homozygous for a null mutation display disordered germ cells in the testes.		GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0090231;regulation of spindle checkpoint;IMP|GO:2000751;histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore;IMP	GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0072354;histone kinase activity (H3-T3 specific);IMP	http://www.genecards.org/index.php?path=/Search/keyword/GSG2			https://www.ncbi.nlm.nih.gov/omim/?term=609240	http://www.informatics.jax.org/searchtool/Search.do?query=GSG2&submit=Quick%0D%14055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSG2	rs220462	0.257788	0.2389	0.3069	0.08	1	13	exonic	exonic	exonic	GSG2	GSG2	ENSG00000177602	nonsynonymous SNV	nonsynonymous SNV	unknown	GSG2:NM_031965:exon1:c.G611A:p.G204D,	GSG2:uc002fwp.3:exon1:c.G611A:p.G204D,	UNKNOWN	Het;G>A	1501;82|77	Hom;G>A	4491;0|165
N	N	-	17	3628212	3628212	T	C	snp	nonsynonymous SNV	T983C	I328T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	GSG2	Gsg2	ENSG00000177602	histone H3 associated protein kinase	chr17:3627211-3630067			Male mice homozygous for a null mutation display disordered germ cells in the testes.		GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0090231;regulation of spindle checkpoint;IMP|GO:2000751;histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore;IMP	GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0072354;histone kinase activity (H3-T3 specific);IMP	http://www.genecards.org/index.php?path=/Search/keyword/GSG2			https://www.ncbi.nlm.nih.gov/omim/?term=609240	http://www.informatics.jax.org/searchtool/Search.do?query=GSG2&submit=Quick%0D%14055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSG2	rs220461	0.253594	0.2347	0.3046	0.08	1	13	exonic	exonic	exonic	GSG2	GSG2	ENSG00000177602	nonsynonymous SNV	nonsynonymous SNV	unknown	GSG2:NM_031965:exon1:c.T983C:p.I328T,	GSG2:uc002fwp.3:exon1:c.T983C:p.I328T,	UNKNOWN	Het;T>C	1631;83|73	Hom;T>C	5040;1|177
N	N	-	17	3632836	3632836	G	A	snp	nonsynonymous SNV	C2848T	R950W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	ITGAE	Itgae	ENSG00000083457	integrin subunit alpha E	chr17:3617922-3704537	Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]	Sarcoidosis; Attention Deficit Disorder with Hyperactivity; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Dengue Hemorrhagic Fever; Leukemia, Lymphocytic, Chronic, B-Cell; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; ADHD | attention-deficit hyperactivity disorder	Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria.	Integrin cell surface interactions	GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0030198;extracellular matrix organization;TAS	GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGAE	https://www.uniprot.org/uniprot/P38570		https://www.ncbi.nlm.nih.gov/omim/?term=604682	http://www.informatics.jax.org/searchtool/Search.do?query=ITGAE&submit=Quick%0D%1828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGAE	rs1716	0.265375	0.2528	0.3172	0.42	5	12	exonic	exonic	exonic	ITGAE	ITGAE	ENSG00000083457	nonsynonymous SNV	nonsynonymous SNV	unknown	ITGAE:NM_002208:exon24:c.C2848T:p.R950W,	ITGAE:uc002fwo.4:exon24:c.C2848T:p.R950W,	UNKNOWN	Het;G>A	932;39|45	Hom;G>A	2498;0|97
N	N	-	17	36638255	36638255	C	T	snp	intronic	 	 	 	 	ARHGAP23	Arhgap23	ENSG00000275832	Rho GTPase activating protein 23	chr17:36584662-36668628	The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]		 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP23			https://www.ncbi.nlm.nih.gov/omim/?term=610590	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP23&submit=Quick%0D%21460ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP23	rs7503829	0.364816	0.3745	0.4060	1	0	0	intronic	intronic	intronic	ARHGAP23	ARHGAP23	ENSG00000225485	Na	Na	Na	Na	Na	Na	Het;C>T	268;10|14	Hom;C>T	282;0|9
N	N	-	17	36889466	36889466	G	GCCTGC	indel	intronic	 	 	 	 	CISD3	Cisd3b	ENSG00000277972	CDGSH iron sulfur domain 3	chr17:36886488-36891297	CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008]		 			GO:0005739;mitochondrion;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CISD3			https://www.ncbi.nlm.nih.gov/omim/?term=611933	http://www.informatics.jax.org/searchtool/Search.do?query=CISD3&submit=Quick%0D%21939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CISD3	rs25605	0.505791	0	0	1	0	0	intronic	intronic	intronic	CISD3	CISD3	ENSG00000230055	Na	Na	Na	Na	Na	Na	Het;+CCTGC	443;18|12	Hom;+CCTGC	752;2|23
N	N	-	17	36958065	36958065	A	G	snp	UTR3	*280T>C	 	 	 	ENSG00000108296																		rs8592	0.294728	0	0	1	0	0	UTR3	UTR3	UTR3	CWC25(NM_017748:c.*280T>C)	CWC25(uc010wdv.3:c.*280T>C,uc002hqu.4:c.*280T>C)	ENSG00000108296(ENST00000225428:c.*280T>C,ENST00000536127:c.*280T>C,ENST00000585298:c.*1468T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1780;86|82	Hom;A>G	4577;2|170
N	N	-	17	36999122	36999122	C	CTGT	indel	intergenic	 	 	 	 	ENSG00000214556																		rs55968389	0	0	0	1	0	0	intergenic	intergenic	intergenic	C17orf98(dist=1480),RPL23(dist=7199)	C17orf98(dist=1480),RPL23(dist=7199)	ENSG00000214556(dist=1414),ENSG00000125691(dist=4996)	Na	Na	Na	Na	Na	Na	Het;+TGT	314;9|9	Hom;+TGT	597;0|12
N	N	-	17	3704483	3704483	G	A	snp	UTR5	-45C>T	 	 	 	ITGAE	Itgae	ENSG00000083457	integrin subunit alpha E	chr17:3617922-3704537	Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]	Sarcoidosis; Attention Deficit Disorder with Hyperactivity; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Dengue Hemorrhagic Fever; Leukemia, Lymphocytic, Chronic, B-Cell; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; ADHD | attention-deficit hyperactivity disorder	Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria.	Integrin cell surface interactions	GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0030198;extracellular matrix organization;TAS	GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGAE	https://www.uniprot.org/uniprot/P38570		https://www.ncbi.nlm.nih.gov/omim/?term=604682	http://www.informatics.jax.org/searchtool/Search.do?query=ITGAE&submit=Quick%0D%1828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGAE	rs3809805	0.161741	0.1173	0.1733	1	0	0	UTR5	UTR5	UTR5	ITGAE(NM_002208:c.-45C>T)	ITGAE(uc002fwo.4:c.-45C>T)	ENSG00000083457(ENST00000263087:c.-45C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	868;31|41	Hom;G>A	2075;0|75
N	N	-	17	37053165	37053165	C	T	snp	unknown	 	 	 	 	LASP1	Lasp1	ENSG00000002834	LIM and SH3 protein 1	chr17:37026112-37078023	This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]	autism; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background.  Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0015075;ion transmembrane transporter activity;ISS|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LASP1	https://www.uniprot.org/uniprot/Q14847		https://www.ncbi.nlm.nih.gov/omim/?term=602920	http://www.informatics.jax.org/searchtool/Search.do?query=LASP1&submit=Quick%0D%296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LASP1	rs1038651	0.379792	0	0.8125	1	0	0	intronic	UTR5	exonic	LASP1	LASP1(uc010cvq.3:c.-17423C>T)	ENSG00000002834	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	623;32|28	Hom;C>T	1979;0|68
N	N	-	17	37070658	37070658	A	G	snp	nonsynonymous SNV	A71G	H24R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LASP1	Lasp1	ENSG00000002834	LIM and SH3 protein 1	chr17:37026112-37078023	This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]	autism; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background.  Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0015075;ion transmembrane transporter activity;ISS|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LASP1	https://www.uniprot.org/uniprot/Q14847		https://www.ncbi.nlm.nih.gov/omim/?term=602920	http://www.informatics.jax.org/searchtool/Search.do?query=LASP1&submit=Quick%0D%296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LASP1	rs525989	0.676717	0.7265	0.6445	1	0	0	exonic	exonic	exonic	LASP1	LASP1	ENSG00000002834	synonymous SNV	nonsynonymous SNV	unknown	LASP1:NM_001271608:exon4:c.A270G:p.S90S,LASP1:NM_006148:exon5:c.A438G:p.S146S,	LASP1:uc010cvq.3:exon6:c.A71G:p.H24R,	UNKNOWN	Het;A>G	750;89|44	Hom;A>G	2699;0|100
N	N	-	17	37070737	37070737	A	G	snp	intronic	 	 	 	 	LASP1	Lasp1	ENSG00000002834	LIM and SH3 protein 1	chr17:37026112-37078023	This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]	autism; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background.  Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0015075;ion transmembrane transporter activity;ISS|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LASP1	https://www.uniprot.org/uniprot/Q14847		https://www.ncbi.nlm.nih.gov/omim/?term=602920	http://www.informatics.jax.org/searchtool/Search.do?query=LASP1&submit=Quick%0D%296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LASP1	rs525767	0.670527	0.7187	0.6429	1	0	0	intronic	intronic	intronic	LASP1	LASP1	ENSG00000002834	Na	Na	Na	Na	Na	Na	Het;A>G	773;46|39	Hom;A>G	1616;0|62
N	N	-	17	37071189	37071189	C	T	snp	intronic	 	 	 	 	LASP1	Lasp1	ENSG00000002834	LIM and SH3 protein 1	chr17:37026112-37078023	This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]	autism; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background.  Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0015075;ion transmembrane transporter activity;ISS|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LASP1	https://www.uniprot.org/uniprot/Q14847		https://www.ncbi.nlm.nih.gov/omim/?term=602920	http://www.informatics.jax.org/searchtool/Search.do?query=LASP1&submit=Quick%0D%296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LASP1	rs2241009	0.675319	0	0.6455	1	0	0	intronic	intronic	intronic	LASP1	LASP1	ENSG00000002834	Na	Na	Na	Na	Na	Na	Het;C>T	143;5|6	Hom;C>T	458;0|16
N	N	-	17	37075286	37075286	A	AGGGCGAGGCCCGTGG	indel	UTR3	*255A>AGGGCGAGGCCCGTGG	 	 	 	LASP1	Lasp1	ENSG00000002834	LIM and SH3 protein 1	chr17:37026112-37078023	This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]	autism; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background.  Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0015075;ion transmembrane transporter activity;ISS|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LASP1	https://www.uniprot.org/uniprot/Q14847		https://www.ncbi.nlm.nih.gov/omim/?term=602920	http://www.informatics.jax.org/searchtool/Search.do?query=LASP1&submit=Quick%0D%296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LASP1	rs11270367	0	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	LASP1(NM_006148:c.*255A>AGGGCGAGGCCCGTGG,NM_001271608:c.*255A>AGGGCGAGGCCCGTGG)	LASP1(uc010cvq.3:c.*161A>AGGGCGAGGCCCGTGG,uc002hra.3:c.*255A>AGGGCGAGGCCCGTGG,uc010wdz.2:c.*255A>AGGGCGAGGCCCGTGG)	ENSG00000265784	Na	Na	Na	Na	Na	Na	Het;+GGGCGAGGCCCGTGG	3307;112|86	Hom;+GGGCGAGGCCCGTGG	7691;0|159
N	N	-	17	37075506	37075506	G	A	snp	UTR3	*475G>A	 	 	 	LASP1	Lasp1	ENSG00000002834	LIM and SH3 protein 1	chr17:37026112-37078023	This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]	autism; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background.  Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0015075;ion transmembrane transporter activity;ISS|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LASP1	https://www.uniprot.org/uniprot/Q14847		https://www.ncbi.nlm.nih.gov/omim/?term=602920	http://www.informatics.jax.org/searchtool/Search.do?query=LASP1&submit=Quick%0D%296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LASP1	rs660413	0.820687	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	LASP1(NM_006148:c.*475G>A,NM_001271608:c.*475G>A)	LASP1(uc010cvq.3:c.*381G>A,uc002hra.3:c.*475G>A,uc010wdz.2:c.*475G>A)	ENSG00000265784	Na	Na	Na	Na	Na	Na	Het;G>A	1763;94|78	Hom;G>A	4996;0|178
N	N	-	17	37183667	37183667	G	C	snp	ncRNA_exonic	 	 	 	 	LRRC37A11P																		rs6503741	0.748403	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FBXO47(dist=60012),LRRC37A11P(dist=2492)	FBXO47(dist=60012),LRRC37A11P(dist=2492)	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;G>C	597;15|26	Hom;G>C	1166;0|42
N	N	-	17	37183726	37183726	A	G	snp	ncRNA_exonic	 	 	 	 	LRRC37A11P																		rs4483895	0.5627	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FBXO47(dist=60071),LRRC37A11P(dist=2433)	FBXO47(dist=60071),LRRC37A11P(dist=2433)	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;A>G	391;9|18	Hom;A>G	927;0|32
N	N	-	17	37184660	37184660	A	G	snp	ncRNA_exonic	 	 	 	 	LRRC37A11P																		rs4795330	0.717652	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FBXO47(dist=61005),LRRC37A11P(dist=1499)	FBXO47(dist=61005),LRRC37A11P(dist=1499)	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;A>G	353;13|16	Hom;A>G	681;0|26
N	N	-	17	37186555	37186555	C	T	snp	ncRNA_exonic	 	 	 	 	LRRC37A11P																		rs9893920	0.1877	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LRRC37A11P	LRRC37A11P	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;C>T	202;13|11	Hom;C>T	546;0|19
N	N	-	17	37190141	37190141	T	C	snp	ncRNA_intronic	 	 	 	 	LRRC37A11P																		rs9914342	0.239617	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC37A11P	LRRC37A11P	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;T>C	233;5|9	Hom;T>C	354;0|10
N	N	-	17	37200764	37200764	C	T	snp	ncRNA_exonic	 	 	 	 	LRRC37A11P																		rs73985067	0.35024	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LRRC37A11P	LRRC37A11P	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;C>T	328;38|18	Hom;C>T	1141;1|43
N	N	-	17	37202047	37202047	T	G	snp	ncRNA_intronic	 	 	 	 	LRRC37A11P																		rs9911197	0.365415	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC37A11P	LRRC37A11P	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;T>G	554;11|23	Hom;T>G	960;0|36
N	N	-	17	37202489	37202489	T	C	snp	ncRNA_intronic	 	 	 	 	LRRC37A11P																		rs7223157	0.723243	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC37A11P	LRRC37A11P	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;T>C	181;14|10	Hom;T>C	711;0|27
N	N	-	17	37202603	37202603	T	A	snp	ncRNA_intronic	 	 	 	 	LRRC37A11P																		rs9912445	0.722644	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC37A11P	LRRC37A11P	ENSG00000214553	Na	Na	Na	Na	Na	Na	Het;T>A	86;2|5	Hom;T>A	264;0|10
N	N	-	17	37213252	37213252	T	C	snp	upstream	 	 	 	 	LOC100131347																		rs4794799	0.536342	0	0	1	0	0	upstream	intergenic	upstream	LOC100131347	LRRC37A11P(dist=3794),LOC100131347(dist=4091)	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;T>C	313;20|13	Hom;T>C	921;0|31
N	N	-	17	37213307	37213307	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100131347																		rs4795337	0.729034	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100131347	LRRC37A11P(dist=3849),LOC100131347(dist=4036)	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;C>T	1277;61|34	Hom;C>T	3692;0|81
N	N	-	17	37213317	37213317	C	A	snp	ncRNA_exonic	 	 	 	 	LOC100131347																		rs4795338	0.551518	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100131347	LRRC37A11P(dist=3859),LOC100131347(dist=4026)	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;C>A	1419;68|42	Hom;C>A	3900;0|92
N	N	-	17	37228765	37228765	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100131347																		rs9907595	0.761382	0.8148	0.7920	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC100131347	LOC100131347,PLXDC1	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;A>G	382;35|21	Hom;A>G	1332;0|54
N	N	-	17	37234111	37234111	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100131347																		rs3744078	0.483027	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100131347	LOC100131347,PLXDC1	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;G>A	284;7|13	Hom;G>A	432;0|17
N	N	-	17	37239671	37239671	A	G	snp	ncRNA_intronic	 	 	 	 	AC091178.1																		rs9891236	0.853834	0.9121	0.8606	1	0	0	intronic	intronic	ncRNA_intronic	PLXDC1	LOC100131347,PLXDC1	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;A>G	159;39|12	Hom;A>G	1191;0|43
N	N	-	17	37261981	37261981	T	C	snp	ncRNA_intronic	 	 	 	 	AC091178.1																		rs3744351	0.291534	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PLXDC1	LOC100131347,PLXDC1	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;T>C	76;2|3	Hom;T>C	405;0|11
N	N	-	17	37265378	37265378	C	T	snp	ncRNA_intronic	 	 	 	 	AC091178.1																		rs16490	0.78734	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PLXDC1	PLXDC1	ENSG00000263818	Na	Na	Na	Na	Na	Na	Het;C>T	214;12|10	Hom;C>T	481;0|16
N	N	-	17	3806794	3806794	C	G	snp	intronic	 	 	 	 	P2RX1	P2rx1	ENSG00000108405	purinergic receptor P2X 1	chr17:3799886-3819794	The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]	BLEEDING DISORDER PLATELET-TYPE 8	Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism.	Neutrophil degranulation	GO:0002554;serotonin secretion by platelet;IEA|GO:0003056;regulation of vascular smooth muscle contraction;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007320;insemination;IEA|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0010033;response to organic substance;IEA|GO:0019228;neuronal action potential;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030168;platelet activation;IEA|GO:0033198;response to ATP;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042310;vasoconstriction;IEA|GO:0043270;positive regulation of ion transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046513;ceramide biosynthetic process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031240;external side of cell outer membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098794;postsynapse;IEA	GO:0001614;purinergic nucleotide receptor activity;IDA|GO:0004931;extracellular ATP-gated cation channel activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/P2RX1	https://www.uniprot.org/uniprot/P51575		https://www.ncbi.nlm.nih.gov/omim/?term=600845	http://www.informatics.jax.org/searchtool/Search.do?query=P2RX1&submit=Quick%0D%3709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX1	rs2074990	0.313498	0.2420	0.3349	1	0	0	intronic	intronic	intronic	P2RX1	P2RX1	ENSG00000108405	Na	Na	Na	Na	Na	Na	Het;C>G	176;12|10	Hom;C>G	745;0|25
N	N	-	17	38251385	38251385	A	AT	indel	intronic	 	 	 	 	NR1D1	Nr1d1	ENSG00000126368	nuclear receptor subfamily 1 group D member 1	chr17:38249040-38256978	This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]	schizophrenia | bipolar disorder; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; Asthma; Sleep Disorders; mood disorders; depression; bipolar affective disorder; Bipolar Disorder	Homozygotes for targeted null mutations exhibit altered circadian behavior and temperature regulation with mild alterations in cytoarchitecture of the cerebellum. Litter size is reduced by half in mutant females.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0005978;glycogen biosynthetic process;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0010498;proteasomal protein catabolic process;ISS|GO:0010871;negative regulation of receptor biosynthetic process;IMP|GO:0019216;regulation of lipid metabolic process;ISS|GO:0030154;cell differentiation;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0034144;negative regulation of toll-like receptor 4 signaling pathway;IMP|GO:0035947;regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter;IMP|GO:0042752;regulation of circadian rhythm;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0044321;response to leptin;ISS|GO:0045598;regulation of fat cell differentiation;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0060086;circadian temperature homeostasis;ISS|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0061469;regulation of type B pancreatic cell proliferation;ISS|GO:0070859;positive regulation of bile acid biosynthetic process;ISS|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:2000188;regulation of cholesterol homeostasis;ISS	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IMP|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001222;transcription corepressor binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0020037;heme binding;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NR1D1	https://www.uniprot.org/uniprot/P20393		https://www.ncbi.nlm.nih.gov/omim/?term=602408	http://www.informatics.jax.org/searchtool/Search.do?query=NR1D1&submit=Quick%0D%5935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NR1D1	rs141144358	0.198083	0.2502	0.2920	1	0	0	intronic	intronic	intronic	NR1D1	NR1D1	ENSG00000126368	Na	Na	Na	Na	Na	Na	Het;+T	1418;27|42	Hom;+T	2013;1|52
N	N	-	17	38251657	38251657	C	A	snp	intronic	 	 	 	 	NR1D1	Nr1d1	ENSG00000126368	nuclear receptor subfamily 1 group D member 1	chr17:38249040-38256978	This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]	schizophrenia | bipolar disorder; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; Asthma; Sleep Disorders; mood disorders; depression; bipolar affective disorder; Bipolar Disorder	Homozygotes for targeted null mutations exhibit altered circadian behavior and temperature regulation with mild alterations in cytoarchitecture of the cerebellum. Litter size is reduced by half in mutant females.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0005978;glycogen biosynthetic process;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0010498;proteasomal protein catabolic process;ISS|GO:0010871;negative regulation of receptor biosynthetic process;IMP|GO:0019216;regulation of lipid metabolic process;ISS|GO:0030154;cell differentiation;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0034144;negative regulation of toll-like receptor 4 signaling pathway;IMP|GO:0035947;regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter;IMP|GO:0042752;regulation of circadian rhythm;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0044321;response to leptin;ISS|GO:0045598;regulation of fat cell differentiation;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0060086;circadian temperature homeostasis;ISS|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0061469;regulation of type B pancreatic cell proliferation;ISS|GO:0070859;positive regulation of bile acid biosynthetic process;ISS|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:2000188;regulation of cholesterol homeostasis;ISS	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IMP|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001222;transcription corepressor binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0020037;heme binding;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NR1D1	https://www.uniprot.org/uniprot/P20393		https://www.ncbi.nlm.nih.gov/omim/?term=602408	http://www.informatics.jax.org/searchtool/Search.do?query=NR1D1&submit=Quick%0D%5935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NR1D1	rs72836608	0.197684	0.2453	0.2813	1	0	0	intronic	intronic	intronic	NR1D1	NR1D1	ENSG00000126368	Na	Na	Na	Na	Na	Na	Het;C>A	220;7|9	Hom;C>A	351;0|12
N	N	-	17	38609431	38609431	G	GAC	indel	intronic	 	 	 	 	IGFBP4	Igfbp4	ENSG00000141753	insulin like growth factor binding protein 4	chr17:38599702-38613983	This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]	Bone Mineral Density; pregnancy loss, recurrent; breast cancer; Triglycerides; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alzheimer's disease ; breast cancer|prostate cancer; ovarian cancer	Mice homozygous for a knock-out allele exhibit a similar reduction in birth and postnatal body weight, and show impaired glucose homeostasis relative to wild-type controls.	Post-translational protein phosphorylation	GO:0001501;skeletal system development;TAS|GO:0001558;regulation of cell growth;IEA|GO:0006259;DNA metabolic process;TAS|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;TAS|GO:0010906;regulation of glucose metabolic process;IEA|GO:0040008;regulation of growth;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043567;regulation of insulin-like growth factor receptor signaling pathway;IBA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005102;receptor binding;TAS|GO:0005520;insulin-like growth factor binding;IEA|GO:0019838;growth factor binding;IEA|GO:0031994;insulin-like growth factor I binding;IBA|GO:0031995;insulin-like growth factor II binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGFBP4	https://www.uniprot.org/uniprot/P22692		https://www.ncbi.nlm.nih.gov/omim/?term=146733	http://www.informatics.jax.org/searchtool/Search.do?query=IGFBP4&submit=Quick%0D%8222ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFBP4	rs3055243	0.889577	0.7798	0.7961	1	0	0	intronic	intronic	intronic	IGFBP4	IGFBP4	ENSG00000141753	Na	Na	Na	Na	Na	Na	Het;+AC	746;3|23	Hom;+AC	862;0|24
N	N	-	17	38950272	38950272	T	C	snp	synonymous SNV	A1005G	T335T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KRT28	Krt28	ENSG00000173908	keratin 28	chr17:38948455-38956211	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]		 	Formation of the cornified envelope	GO:0008150;biological_process;ND|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KRT28			https://www.ncbi.nlm.nih.gov/omim/?term=616677	http://www.informatics.jax.org/searchtool/Search.do?query=KRT28&submit=Quick%0D%13444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT28	rs2250671	0.618411	0.6462	0.5807	1	0	0	exonic	exonic	exonic	KRT28	KRT28	ENSG00000173908	synonymous SNV	synonymous SNV	unknown	KRT28:NM_181535:exon6:c.A1005G:p.T335T,	KRT28:uc002hvh.1:exon6:c.A1005G:p.T335T,	UNKNOWN	Het;T>C	624;10|28	Hom;T>C	950;0|33
N	N	-	17	38953540	38953540	A	G	snp	intronic	 	 	 	 	KRT28	Krt28	ENSG00000173908	keratin 28	chr17:38948455-38956211	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]		 	Formation of the cornified envelope	GO:0008150;biological_process;ND|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KRT28			https://www.ncbi.nlm.nih.gov/omim/?term=616677	http://www.informatics.jax.org/searchtool/Search.do?query=KRT28&submit=Quick%0D%13444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT28	rs3813038	0.698283	0.7437	0.6621	1	0	0	intronic	intronic	intronic	KRT28	KRT28	ENSG00000173908	Na	Na	Na	Na	Na	Na	Het;A>G	550;24|25	Hom;A>G	951;0|33
N	N	-	17	38954687	38954687	C	T	snp	intronic	 	 	 	 	KRT28	Krt28	ENSG00000173908	keratin 28	chr17:38948455-38956211	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]		 	Formation of the cornified envelope	GO:0008150;biological_process;ND|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KRT28			https://www.ncbi.nlm.nih.gov/omim/?term=616677	http://www.informatics.jax.org/searchtool/Search.do?query=KRT28&submit=Quick%0D%13444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT28	rs9914044	0	0.7435	0.6603	1	0	0	intronic	intronic	intronic	KRT28	KRT28	ENSG00000173908	Na	Na	Na	Na	Na	Na	Het;C>T	857;21|35	Hom;C>T	1983;0|71
N	N	-	17	38990834	38990834	G	C	snp	synonymous SNV	G66C	V22V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM99	 	ENSG00000167920	transmembrane protein 99	chr17:38975358-38992522			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM99				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM99&submit=Quick%0D%12145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM99	rs2240078	0.901558	0.9669	0.9263	1	0	0	exonic	exonic	exonic	TMEM99	TMEM99	ENSG00000167920	synonymous SNV	synonymous SNV	unknown	TMEM99:NM_001195386:exon3:c.G66C:p.V22V,TMEM99:NM_001195387:exon3:c.G66C:p.V22V,TMEM99:NM_145274:exon3:c.G66C:p.V22V,	TMEM99:uc002hvj.1:exon3:c.G66C:p.V22V,TMEM99:uc021txc.1:exon3:c.G66C:p.V22V,TMEM99:uc021txe.1:exon1:c.G66C:p.V22V,TMEM99:uc021txd.1:exon3:c.G66C:p.V22V,	UNKNOWN	Het;G>C	786;31|30	Hom;G>C	1793;0|61
N	N	-	17	38991032	38991032	T	A	snp	synonymous SNV	T264A	G88G	aliphatic,neutral	aliphatic,neutral	TMEM99	 	ENSG00000167920	transmembrane protein 99	chr17:38975358-38992522			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM99				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM99&submit=Quick%0D%12145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM99	rs6694	0.583067	0.6226	0.5719	1	0	0	exonic	exonic	exonic	TMEM99	TMEM99	ENSG00000167920	synonymous SNV	synonymous SNV	unknown	TMEM99:NM_001195386:exon3:c.T264A:p.G88G,TMEM99:NM_001195387:exon3:c.T264A:p.G88G,TMEM99:NM_145274:exon3:c.T264A:p.G88G,	TMEM99:uc002hvj.1:exon3:c.T264A:p.G88G,TMEM99:uc021txc.1:exon3:c.T264A:p.G88G,TMEM99:uc021txe.1:exon1:c.T264A:p.G88G,TMEM99:uc021txd.1:exon3:c.T264A:p.G88G,	UNKNOWN	Het;T>A	2276;94|108	Hom;T>A	6111;0|180
N	N	-	17	39657337	39657337	C	A	snp	ncRNA_exonic	 	 	 	 	AC019349.1																		rs903	0.689696	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	KRT13(NM_002274:c.*259G>T,NM_153490:c.*171G>T)	KRT13(uc002hwu.1:c.*171G>T,uc002hwv.1:c.*259G>T)	ENSG00000229732	Na	Na	Na	Na	Na	Na	Het;C>A	1222;71|62	Hom;C>A	3574;0|97
N	N	-	17	39706050	39706050	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00974																		rs11079001	0.65595	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00974	LOC147093	ENSG00000226629	Na	Na	Na	Na	Na	Na	Het;G>C	1143;58|50	Hom;G>C	3204;0|110
N	N	-	17	39723425	39723426	CA	C	indel	intronic	 	 	 	 	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs11313278	0.59385	0	0	1	0	0	intronic	intronic	intronic	KRT9	JUP,KRT9	ENSG00000171403	Na	Na	Na	Na	Na	Na	Het;-A	130;5|5	Hom;-A	368;0|9
N	N	-	17	39723451	39723451	A	G	snp	intronic	 	 	 	 	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs6503636	0.665735	0	0	1	0	0	intronic	intronic	intronic	KRT9	JUP,KRT9	ENSG00000171403	Na	Na	Na	Na	Na	Na	Het;A>G	265;11|9	Hom;A>G	800;0|22
N	N	-	17	39723990	39723990	T	A	snp	synonymous SNV	A1407T	G469G	aliphatic,neutral	aliphatic,neutral	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs3890472	0.647364	0.4989	0.6241	1	0	0	exonic	exonic	exonic	KRT9	KRT9	ENSG00000171403	synonymous SNV	synonymous SNV	unknown	KRT9:NM_000226:exon7:c.A1407T:p.G469G,	KRT9:uc002hxe.4:exon7:c.A1407T:p.G469G,	UNKNOWN	Het;T>A	590;17|27	Hom;T>A	939;0|34
N	N	-	17	39724047	39724047	T	C	snp	intronic	 	 	 	 	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs1008753	0.666134	0.5223	0.6314	1	0	0	intronic	intronic	intronic	KRT9	JUP,KRT9	ENSG00000171403	Na	Na	Na	Na	Na	Na	Het;T>C	746;33|35	Hom;T>C	1709;0|61
N	N	-	17	39726276	39726276	C	A	snp	intronic	 	 	 	 	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs3816510	0.663139	0.5170	0.6289	1	0	0	intronic	intronic	intronic	KRT9	JUP,KRT9	ENSG00000171403	Na	Na	Na	Na	Na	Na	Het;C>A	756;28|33	Hom;C>A	1861;0|70
N	N	-	17	39727816	39727816	T	G	snp	synonymous SNV	A429C	G143G	aliphatic,neutral	aliphatic,neutral	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs8075921	0	0.5016	0.6325	1	0	0	exonic	exonic	exonic	KRT9	KRT9	ENSG00000171403	synonymous SNV	synonymous SNV	unknown	KRT9:NM_000226:exon1:c.A429C:p.G143G,	KRT9:uc002hxe.4:exon1:c.A429C:p.G143G,	UNKNOWN	Het;T>G	595;30|24	Hom;T>G	1732;0|58
N	N	-	17	39728050	39728050	G	A	snp	synonymous SNV	C195T	G65G	aliphatic,neutral	aliphatic,neutral	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs8070680	0.78095	0.6402	0.7292	1	0	0	exonic	exonic	exonic	KRT9	KRT9	ENSG00000171403	synonymous SNV	synonymous SNV	unknown	KRT9:NM_000226:exon1:c.C195T:p.G65G,	KRT9:uc002hxe.4:exon1:c.C195T:p.G65G,	UNKNOWN	Het;G>A	872;71|49	Hom;G>A	3521;0|141
N	N	-	17	39728343	39728343	C	T	snp	upstream	 	 	 	 	KRT9		ENSG00000171403	keratin 9	chr17:39722096-39728310	This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA EPIDERMOLYTIC	Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation.	Formation of the cornified envelope	GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KRT9		https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607606	http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9	rs8075857	0.666134	0	0	1	0	0	upstream	intronic	upstream	KRT9	JUP	ENSG00000171403	Na	Na	Na	Na	Na	Na	Het;C>T	186;17|10	Hom;C>T	788;0|28
N	N	-	17	39742492	39742492	G	C	snp	intronic	 	 	 	 	KRT14	Krt14	ENSG00000186847	keratin 14	chr17:39738531-39743173	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate	Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.	Formation of the cornified envelope	GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT14		https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148066	http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14	rs9915113	0.680711	0	0	1	0	0	intronic	intronic	intronic	KRT14	JUP,KRT14	ENSG00000186847	Na	Na	Na	Na	Na	Na	Het;G>C	322;13|11	Hom;G>C	967;0|28
N	N	-	17	39742718	39742718	A	G	snp	synonymous SNV	T369C	N123N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KRT14	Krt14	ENSG00000186847	keratin 14	chr17:39738531-39743173	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate	Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.	Formation of the cornified envelope	GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT14		https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148066	http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14	rs3826549	0.680511	0	0.6375	1	0	0	exonic	exonic	exonic	KRT14	KRT14	ENSG00000186847	synonymous SNV	synonymous SNV	unknown	KRT14:NM_000526:exon1:c.T369C:p.N123N,	KRT14:uc002hxf.2:exon1:c.T369C:p.N123N,	UNKNOWN	Het;A>G	2369;88|107	Hom;A>G	4790;0|172
N	N	-	17	39742894	39742894	G	A	snp	synonymous SNV	C193T	L65L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KRT14	Krt14	ENSG00000186847	keratin 14	chr17:39738531-39743173	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate	Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.	Formation of the cornified envelope	GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT14		https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148066	http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14	rs3826551	0.680711	0.5179	0.5977	1	0	0	exonic	exonic	exonic	KRT14	KRT14	ENSG00000186847	synonymous SNV	synonymous SNV	unknown	KRT14:NM_000526:exon1:c.C193T:p.L65L,	KRT14:uc002hxf.2:exon1:c.C193T:p.L65L,	UNKNOWN	Het;G>A	3257;98|89	Hom;G>A	5912;0|134
N	N	-	17	39742898	39742898	G	A	snp	synonymous SNV	C189T	C63C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	KRT14	Krt14	ENSG00000186847	keratin 14	chr17:39738531-39743173	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate	Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.	Formation of the cornified envelope	GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT14		https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148066	http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14	rs11551758	0.680711	0	0.5911	1	0	0	exonic	exonic	exonic	KRT14	KRT14	ENSG00000186847	synonymous SNV	synonymous SNV	unknown	KRT14:NM_000526:exon1:c.C189T:p.C63C,	KRT14:uc002hxf.2:exon1:c.C189T:p.C63C,	UNKNOWN	Het;G>A	3203;92|90	Hom;G>A	5774;0|128
N	N	-	17	39743081	39743081	G	A	snp	synonymous SNV	C6T	T2T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KRT14	Krt14	ENSG00000186847	keratin 14	chr17:39738531-39743173	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate	Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.	Formation of the cornified envelope	GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT14		https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148066	http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14	rs11551759	0.680511	0.5503	0.6715	1	0	0	exonic	exonic	exonic	KRT14	KRT14	ENSG00000186847	synonymous SNV	synonymous SNV	unknown	KRT14:NM_000526:exon1:c.C6T:p.T2T,	KRT14:uc002hxf.2:exon1:c.C6T:p.T2T,	UNKNOWN	Het;G>A	1730;70|85	Hom;G>A	4229;0|161
N	N	-	17	39743180	39743180	G	A	snp	upstream	 	 	 	 	KRT14	Krt14	ENSG00000186847	keratin 14	chr17:39738531-39743173	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate	Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.	Formation of the cornified envelope	GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT14		https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148066	http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14	rs12942461	0.680711	0	0	1	0	0	upstream	intronic	upstream	KRT14	JUP	ENSG00000186847	Na	Na	Na	Na	Na	Na	Het;G>A	538;28|26	Hom;G>A	1424;0|51
N	N	-	17	39765956	39765956	G	A	snp	downstream	 	 	 	 	KRT16	Krt16	ENSG00000186832	keratin 16	chr17:39766030-39772151	The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1	Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure.	Formation of the cornified envelope	GO:0002009;morphogenesis of an epithelium;IEA|GO:0006954;inflammatory response;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007568;aging;IDA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0030216;keratinocyte differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031424;keratinization;TAS|GO:0042633;hair cycle;IDA|GO:0045087;innate immune response;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0051546;keratinocyte migration;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0070268;cornification;TAS	GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT16		https://hpo.jax.org/app/browse/search?q=KRT16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148067	http://www.informatics.jax.org/searchtool/Search.do?query=KRT16&submit=Quick%0D%15717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT16	rs8075169	0.743211	0	0	1	0	0	downstream	intronic	downstream	KRT16	JUP	ENSG00000186832	Na	Na	Na	Na	Na	Na	Het;G>A	939;39|46	Hom;G>A	2515;0|94
N	N	-	17	39767744	39767744	A	G	snp	synonymous SNV	T624C	H208H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	KRT16	Krt16	ENSG00000186832	keratin 16	chr17:39766030-39772151	The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1	Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure.	Formation of the cornified envelope	GO:0002009;morphogenesis of an epithelium;IEA|GO:0006954;inflammatory response;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007568;aging;IDA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0030216;keratinocyte differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031424;keratinization;TAS|GO:0042633;hair cycle;IDA|GO:0045087;innate immune response;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0051546;keratinocyte migration;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0070268;cornification;TAS	GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT16		https://hpo.jax.org/app/browse/search?q=KRT16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148067	http://www.informatics.jax.org/searchtool/Search.do?query=KRT16&submit=Quick%0D%15717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT16	rs4796681	0.774161	0.6283	0.6833	1	0	0	exonic	exonic	exonic	KRT16	KRT16	ENSG00000186832	synonymous SNV	synonymous SNV	unknown	KRT16:NM_005557:exon3:c.T624C:p.H208H,	KRT16:uc002hxg.4:exon3:c.T624C:p.H208H,	UNKNOWN	Het;A>G	2098;98|95	Hom;A>G	4650;0|163
N	N	-	17	39767836	39767836	G	A	snp	intronic	 	 	 	 	KRT16	Krt16	ENSG00000186832	keratin 16	chr17:39766030-39772151	The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]	PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1	Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure.	Formation of the cornified envelope	GO:0002009;morphogenesis of an epithelium;IEA|GO:0006954;inflammatory response;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007568;aging;IDA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0030216;keratinocyte differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031424;keratinization;TAS|GO:0042633;hair cycle;IDA|GO:0045087;innate immune response;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0051546;keratinocyte migration;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0070268;cornification;TAS	GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT16		https://hpo.jax.org/app/browse/search?q=KRT16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148067	http://www.informatics.jax.org/searchtool/Search.do?query=KRT16&submit=Quick%0D%15717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT16	rs2100509	0.718051	0.5664	0	1	0	0	intronic	intronic	intronic	KRT16	JUP,KRT16	ENSG00000186832	Na	Na	Na	Na	Na	Na	Het;G>A	959;47|42	Hom;G>A	2806;0|97
N	N	-	17	39925925	39925925	A	G	snp	synonymous SNV	T213C	D71D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	JUP	Jup	ENSG00000173801	junction plakoglobin	chr17:39775692-39943183	This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]	Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia	Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes.	Formation of the cornified envelope	GO:0002159;desmosome assembly;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;NAS|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0016477;cell migration;IMP|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;TAS|GO:0034333;adherens junction assembly;IEA|GO:0042127;regulation of cell proliferation;IDA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0050982;detection of mechanical stimulus;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0070268;cornification;TAS|GO:0071603;endothelial cell-cell adhesion;ISS|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090263;positive regulation of canonical Wnt signaling pathway;IC|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP	GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IMP|GO:0005829;cytosol;ISS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;ISS|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0014704;intercalated disc;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0016342;catenin complex;IEA|GO:0030018;Z disc;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IDA|GO:0031012;extracellular matrix;IDA|GO:0032993;protein-DNA complex;IDA|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0071665;gamma-catenin-TCF7L2 complex;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003713;transcription coactivator activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005198;structural molecule activity;IEA|GO:0005199;structural constituent of cell wall;IC|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0045294;alpha-catenin binding;IEA|GO:0045296;cadherin binding;IEA|GO:0050839;cell adhesion molecule binding;IPI|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC	http://www.genecards.org/index.php?path=/Search/keyword/JUP		https://hpo.jax.org/app/browse/search?q=JUP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=173325	http://www.informatics.jax.org/searchtool/Search.do?query=JUP&submit=Quick%0D%13425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JUP	rs7405731	0.715655	0.7956	0.7364	1	0	0	exonic	exonic	exonic	JUP	JUP	ENSG00000173801	synonymous SNV	synonymous SNV	unknown	JUP:NM_021991:exon3:c.T213C:p.D71D,JUP:NM_002230:exon3:c.T213C:p.D71D,	JUP:uc002hxr.2:exon3:c.T213C:p.D71D,JUP:uc002hxs.2:exon3:c.T213C:p.D71D,JUP:uc002hxq.2:exon3:c.T213C:p.D71D,JUP:uc010wfs.2:exon2:c.T213C:p.D71D,	UNKNOWN	Het;A>G	594;44|31	Hom;A>G	1906;0|70
N	N	-	17	39959433	39959433	A	G	snp	intronic	 	 	 	 	P3H4	P3h4																	rs3809876	0.51877	0	0	1	0	0	intronic	intronic	intronic	P3H4	LEPREL4	ENSG00000141696	Na	Na	Na	Na	Na	Na	Het;A>G	189;12|9	Hom;A>G	746;0|23
N	N	-	17	39959511	39959511	C	T	snp	intronic	 	 	 	 	P3H4	P3h4																	rs3809877	0.490615	0.5330	0.5399	1	0	0	intronic	intronic	intronic	P3H4	LEPREL4	ENSG00000141696	Na	Na	Na	Na	Na	Na	Het;C>T	1090;36|47	Hom;C>T	2902;0|102
N	N	-	17	39979062	39979062	T	A	snp	UTR3	*402T>A	 	 	 	FKBP10	Fkbp10	ENSG00000141756	FK506 binding protein 10	chr17:39968932-39979465	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]	OSTEOGENESIS IMPERFECTA TYPE XI	Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum.		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0061077;chaperone-mediated protein folding;IBA	GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005528;FK506 binding;IBA|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FKBP10	https://www.uniprot.org/uniprot/Q96AY3	https://hpo.jax.org/app/browse/search?q=FKBP10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607063	http://www.informatics.jax.org/searchtool/Search.do?query=FKBP10&submit=Quick%0D%8223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP10	rs1043002	0.787141	0	0	1	0	0	UTR3	UTR3	UTR3	FKBP10(NM_021939:c.*402T>A)	FKBP10(uc002hxv.2:c.*402T>A,uc002hxw.1:c.*402T>A)	ENSG00000141756(ENST00000321562:c.*402T>A,ENST00000489591:c.*1935T>A,ENST00000455106:c.*402T>A,ENST00000544340:c.*402T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	80;17|7	Hom;T>A	405;0|16
N	N	-	17	39979081	39979081	C	G	snp	UTR3	*421C>G	 	 	 	FKBP10	Fkbp10	ENSG00000141756	FK506 binding protein 10	chr17:39968932-39979465	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]	OSTEOGENESIS IMPERFECTA TYPE XI	Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum.		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0061077;chaperone-mediated protein folding;IBA	GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005528;FK506 binding;IBA|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FKBP10	https://www.uniprot.org/uniprot/Q96AY3	https://hpo.jax.org/app/browse/search?q=FKBP10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607063	http://www.informatics.jax.org/searchtool/Search.do?query=FKBP10&submit=Quick%0D%8223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP10	rs1043005	0.78754	0	0	1	0	0	UTR3	UTR3	UTR3	FKBP10(NM_021939:c.*421C>G)	FKBP10(uc002hxv.2:c.*421C>G,uc002hxw.1:c.*421C>G)	ENSG00000141756(ENST00000321562:c.*421C>G,ENST00000489591:c.*1954C>G,ENST00000455106:c.*421C>G,ENST00000544340:c.*421C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	257;17|8	Hom;C>G	717;0|16
N	N	-	17	39979082	39979082	C	G	snp	UTR3	*422C>G	 	 	 	FKBP10	Fkbp10	ENSG00000141756	FK506 binding protein 10	chr17:39968932-39979465	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]	OSTEOGENESIS IMPERFECTA TYPE XI	Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum.		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0061077;chaperone-mediated protein folding;IBA	GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005528;FK506 binding;IBA|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FKBP10	https://www.uniprot.org/uniprot/Q96AY3	https://hpo.jax.org/app/browse/search?q=FKBP10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607063	http://www.informatics.jax.org/searchtool/Search.do?query=FKBP10&submit=Quick%0D%8223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP10	rs1043007	0.78754	0	0	1	0	0	UTR3	UTR3	UTR3	FKBP10(NM_021939:c.*422C>G)	FKBP10(uc002hxv.2:c.*422C>G,uc002hxw.1:c.*422C>G)	ENSG00000141756(ENST00000321562:c.*422C>G,ENST00000489591:c.*1955C>G,ENST00000455106:c.*422C>G,ENST00000544340:c.*422C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	257;17|8	Hom;C>G	717;0|17
N	N	-	17	39979267	39979270	GCTC	G	indel	UTR3	*607_*610delinsG	 	 	 	FKBP10	Fkbp10	ENSG00000141756	FK506 binding protein 10	chr17:39968932-39979465	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]	OSTEOGENESIS IMPERFECTA TYPE XI	Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum.		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0061077;chaperone-mediated protein folding;IBA	GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005528;FK506 binding;IBA|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FKBP10	https://www.uniprot.org/uniprot/Q96AY3	https://hpo.jax.org/app/browse/search?q=FKBP10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607063	http://www.informatics.jax.org/searchtool/Search.do?query=FKBP10&submit=Quick%0D%8223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP10	rs3835085	0.786142	0	0	1	0	0	UTR3	UTR3	UTR3	FKBP10(NM_021939:c.*607_*610delinsG)	FKBP10(uc002hxv.2:c.*607_*610delinsG,uc002hxw.1:c.*607_*610delinsG)	ENSG00000141756(ENST00000321562:c.*607_*610delinsG,ENST00000489591:c.*2140_*2143delinsG,ENST00000455106:c.*607_*610delinsG,ENST00000544340:c.*607_*610delinsG)	Na	Na	Na	Na	Na	Na	Het;-CTC	713;23|20	Hom;-CTC	1088;0|25
N	N	-	17	39983644	39983644	A	C	snp	intronic	 	 	 	 	NT5C3B	Nt5c3b	ENSG00000141698	5'-nucleotidase, cytosolic IIIB	chr17:39981335-39992523			 	mRNA decay by 3' to 5' exoribonuclease	GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B	https://www.uniprot.org/uniprot/Q969T7			http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B	rs9896766	0.786142	0.7606	0.7770	1	0	0	intronic	intronic	intronic	NT5C3B	NT5C3B	ENSG00000141698	Na	Na	Na	Na	Na	Na	Het;A>C	541;16|22	Hom;A>C	924;0|33
N	N	-	17	39983808	39983808	G	C	snp	nonsynonymous SNV	C638G	S213C	polar,hydrophilic,neutral	polar,hydrophobic,neutral	NT5C3B	Nt5c3b	ENSG00000141698	5'-nucleotidase, cytosolic IIIB	chr17:39981335-39992523			 	mRNA decay by 3' to 5' exoribonuclease	GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B	https://www.uniprot.org/uniprot/Q969T7			http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B	rs1046404	0.786142	0.7606	0.7770	0.77	10	13	exonic	exonic	exonic	NT5C3B	NT5C3B	ENSG00000141698	nonsynonymous SNV	nonsynonymous SNV	unknown	NT5C3B:NM_052935:exon8:c.C638G:p.S213C,	NT5C3B:uc002hxy.4:exon7:c.C614G:p.S205C,NT5C3B:uc021txo.1:exon8:c.C638G:p.S213C,NT5C3B:uc021txn.1:exon8:c.C614G:p.S205C,	UNKNOWN	Het;G>C	754;60|38	Hom;G>C	1243;0|46
N	N	-	17	39983820	39983820	G	A	snp	nonsynonymous SNV	C626T	A209V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NT5C3B	Nt5c3b	ENSG00000141698	5'-nucleotidase, cytosolic IIIB	chr17:39981335-39992523			 	mRNA decay by 3' to 5' exoribonuclease	GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B	https://www.uniprot.org/uniprot/Q969T7			http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B	rs1046403	0.786142	0.7606	0.7770	0.15	2	13	exonic	exonic	exonic	NT5C3B	NT5C3B	ENSG00000141698	nonsynonymous SNV	nonsynonymous SNV	unknown	NT5C3B:NM_052935:exon8:c.C626T:p.A209V,	NT5C3B:uc002hxy.4:exon7:c.C602T:p.A201V,NT5C3B:uc021txo.1:exon8:c.C626T:p.A209V,NT5C3B:uc021txn.1:exon8:c.C602T:p.A201V,	UNKNOWN	Het;G>A	565;51|31	Hom;G>A	1118;0|41
N	N	-	17	39983849	39983849	G	C	snp	synonymous SNV	C573G	L191L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NT5C3B	Nt5c3b	ENSG00000141698	5'-nucleotidase, cytosolic IIIB	chr17:39981335-39992523			 	mRNA decay by 3' to 5' exoribonuclease	GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B	https://www.uniprot.org/uniprot/Q969T7			http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B	rs1128966	0.701877	0.6755	0.7531	1	0	0	exonic	exonic	exonic	NT5C3B	NT5C3B	ENSG00000141698	synonymous SNV	synonymous SNV	unknown	NT5C3B:NM_052935:exon8:c.C597G:p.L199L,	NT5C3B:uc002hxy.4:exon7:c.C573G:p.L191L,NT5C3B:uc021txo.1:exon8:c.C597G:p.L199L,NT5C3B:uc021txn.1:exon8:c.C573G:p.L191L,	UNKNOWN	Het;G>C	612;35|28	Hom;G>C	888;0|30
N	N	-	17	39988601	39988601	C	T	snp	intronic	 	 	 	 	NT5C3B	Nt5c3b	ENSG00000141698	5'-nucleotidase, cytosolic IIIB	chr17:39981335-39992523			 	mRNA decay by 3' to 5' exoribonuclease	GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B	https://www.uniprot.org/uniprot/Q969T7			http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B	rs7208062	0.699081	0.6749	0.7509	1	0	0	intronic	intronic	intronic	NT5C3B	NT5C3B	ENSG00000141698	Na	Na	Na	Na	Na	Na	Het;C>T	504;30|22	Hom;C>T	1146;0|38
N	N	-	17	39992584	39992584	C	T	snp	upstream	 	 	 	 	NT5C3B	Nt5c3b	ENSG00000141698	5'-nucleotidase, cytosolic IIIB	chr17:39981335-39992523			 	mRNA decay by 3' to 5' exoribonuclease	GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B	https://www.uniprot.org/uniprot/Q969T7			http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B	rs9897034	0.779353	0	0	1	0	0	upstream	upstream	intronic	NT5C3B	NT5C3B	ENSG00000161594	Na	Na	Na	Na	Na	Na	Het;C>T	50;3|4	Hom;C>T	158;0|6
N	N	-	17	39998141	39998141	C	T	snp	synonymous SNV	C261T	P87P	hydrophobic,neutral	hydrophobic,neutral	KLHL10	Klhl10	ENSG00000161594	kelch like family member 10	chr17:39991937-40004636	The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]	Asthenozoospermia|Azoospermia|Oligospermia	Disruption of one allele results in haploinsufficient male infertility in which heterozygous and chimeric males have a block in spermiogenesis. Female chimeras are fertile.		GO:0000902;cell morphogenesis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IBA|GO:0008584;male gonad development;IBA|GO:0009566;fertilization;IBA|GO:0016567;protein ubiquitination;IEA|GO:0030154;cell differentiation;IEA|GO:0048808;male genitalia morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0000902;cell morphogenesis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IBA|GO:0008584;male gonad development;IBA|GO:0009566;fertilization;IBA|GO:0016567;protein ubiquitination;IEA|GO:0030154;cell differentiation;IEA|GO:0048808;male genitalia morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA	GO:0005737;cytoplasm;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL10	https://www.uniprot.org/uniprot/Q6JEL2	https://hpo.jax.org/app/browse/search?q=KLHL10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608778	http://www.informatics.jax.org/searchtool/Search.do?query=KLHL10&submit=Quick%0D%195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL10	rs1529933	0.778155	0.7603	0.7827	1	0	0	exonic	exonic	exonic	KLHL10	KLHL10	ENSG00000161594	synonymous SNV	synonymous SNV	unknown	KLHL10:NM_152467:exon2:c.C261T:p.P87P,	KLHL10:uc010cxr.3:exon2:c.C261T:p.P87P,KLHL10:uc010wfv.1:exon2:c.C243T:p.P81P,	UNKNOWN	Het;C>T	1709;83|70	Hom;C>T	3530;0|118
N	N	-	17	40003421	40003421	C	T	snp	intronic	 	 	 	 	KLHL10	Klhl10	ENSG00000161594	kelch like family member 10	chr17:39991937-40004636	The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]	Asthenozoospermia|Azoospermia|Oligospermia	Disruption of one allele results in haploinsufficient male infertility in which heterozygous and chimeric males have a block in spermiogenesis. Female chimeras are fertile.		GO:0000902;cell morphogenesis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IBA|GO:0008584;male gonad development;IBA|GO:0009566;fertilization;IBA|GO:0016567;protein ubiquitination;IEA|GO:0030154;cell differentiation;IEA|GO:0048808;male genitalia morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0000902;cell morphogenesis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IBA|GO:0008584;male gonad development;IBA|GO:0009566;fertilization;IBA|GO:0016567;protein ubiquitination;IEA|GO:0030154;cell differentiation;IEA|GO:0048808;male genitalia morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA	GO:0005737;cytoplasm;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL10	https://www.uniprot.org/uniprot/Q6JEL2	https://hpo.jax.org/app/browse/search?q=KLHL10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608778	http://www.informatics.jax.org/searchtool/Search.do?query=KLHL10&submit=Quick%0D%195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL10	rs4796721	0.716254	0	0	1	0	0	intronic	intronic	intronic	KLHL10	KLHL10	ENSG00000161594	Na	Na	Na	Na	Na	Na	Het;C>T	337;12|14	Hom;C>T	572;0|18
N	N	-	17	40010979	40010979	G	A	snp	synonymous SNV	C1140T	Y380Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	KLHL11	Klhl11	ENSG00000178502	kelch like family member 11	chr17:40009797-40021684			 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0030162;regulation of proteolysis;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IBA	GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL11				http://www.informatics.jax.org/searchtool/Search.do?query=KLHL11&submit=Quick%0D%14193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL11	rs3744782	0.778554	0.7551	0.7823	1	0	0	exonic	exonic	exonic	KLHL11	KLHL11	ENSG00000178502	synonymous SNV	synonymous SNV	unknown	KLHL11:NM_018143:exon2:c.C1140T:p.Y380Y,	KLHL11:uc002hyf.1:exon2:c.C1140T:p.Y380Y,	UNKNOWN	Het;G>A	1982;65|87	Hom;G>A	4177;0|155
N	N	-	17	40025264	40025264	G	T	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs9912300	0.777356	0.7541	0.7819	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;G>T	737;28|34	Hom;G>T	1843;0|64
N	N	-	17	40025453	40025453	T	C	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs3744779	0.778954	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;T>C	256;7|9	Hom;T>C	1081;0|34
N	N	-	17	40025670	40025670	G	A	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs3744780	0.778954	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;G>A	235;29|14	Hom;G>A	1308;0|46
N	N	-	17	40027869	40027869	A	T	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs1808787	0.777556	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;A>T	149;5|7	Hom;A>T	839;0|31
N	N	-	17	40028450	40028450	A	T	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs8071627	0.777356	0.7547	0.7819	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;A>T	1049;37|52	Hom;A>T	2803;0|105
N	N	-	17	40028541	40028541	A	G	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs8071753	0.779153	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;A>G	335;5|12	Hom;A>G	926;0|29
N	N	-	17	40028568	40028568	C	G	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs8071234	0.777356	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;C>G	109;2|4	Hom;C>G	455;0|13
N	N	-	17	40058204	40058204	C	A	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs3816121	0.701278	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;C>A	38;6|2	Hom;C>A	373;0|10
N	N	-	17	40058212	40058212	G	A	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs3816122	0.74361	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;G>A	38;5|2	Hom;G>A	287;0|7
N	N	-	17	40060850	40060850	G	A	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs9916650	0.744409	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;G>A	139;2|6	Hom;G>A	112;0|4
N	N	-	17	40068613	40068613	G	A	snp	intronic	 	 	 	 	ACLY	Acly	ENSG00000131473	ATP citrate lyase	chr17:40023161-40086795	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]	schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; longevity; plasma HDL cholesterol (HDL-C) levels	Homozygous null mutation of this gene results in embryonic lethality.  Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.	Fatty acyl-CoA biosynthesis	GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006101;citrate metabolic process;IDA|GO:0006107;oxaloacetate metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IBA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009346;citrate lyase complex;IBA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003878;ATP citrate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046912;transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer;IEA|GO:0048037;cofactor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACLY	https://www.uniprot.org/uniprot/P53396		https://www.ncbi.nlm.nih.gov/omim/?term=108728	http://www.informatics.jax.org/searchtool/Search.do?query=ACLY&submit=Quick%0D%6549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACLY	rs2304499	0.747404	0	0	1	0	0	intronic	intronic	intronic	ACLY	ACLY	ENSG00000131473	Na	Na	Na	Na	Na	Na	Het;G>A	680;28|32	Hom;G>A	1179;0|41
N	N	-	17	40118807	40118807	C	T	snp	UTR5	-96C>T	 	 	 	CNP	Cnp	ENSG00000173786	2',3'-cyclic nucleotide 3' phosphodiesterase	chr17:40118759-40129749		Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; schizophrenia; hypertension	Homozygous inactivation of this gene results in ataxia, gait abnormalities, hindlimb paralysis, muscle weakness, convulsive seizures, weight loss, kyphosis, reactive gliosis, axonal swellings and degeneration, and premature death.		GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009214;cyclic nucleotide catabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0021762;substantia nigra development;IEP|GO:0030900;forebrain development;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0046902;regulation of mitochondrial membrane permeability;IEA|GO:0048709;oligodendrocyte differentiation;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0031143;pseudopodium;IEA|GO:0035748;myelin sheath abaxonal region;IEA|GO:0035749;myelin sheath adaxonal region;IEA|GO:0042470;melanosome;IEA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IEA|GO:0004113;2',3'-cyclic-nucleotide 3'-phosphodiesterase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0030551;cyclic nucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNP			https://www.ncbi.nlm.nih.gov/omim/?term=123830	http://www.informatics.jax.org/searchtool/Search.do?query=CNP&submit=Quick%0D%13424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNP	rs4432296	0.688698	0	0	1	0	0	UTR5	UTR5	UTR5	CNP(NM_033133:c.-96C>T)	CNP(uc002hyl.1:c.-96C>T,uc010wfz.1:c.-96C>T,uc002hym.1:c.-1336C>T,uc010wga.1:c.-5132C>T)	ENSG00000173786(ENST00000393892:c.-96C>T,ENST00000472031:c.-96C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	121;4|7	Hom;C>T	180;0|7
N	N	-	17	40123829	40123829	G	A	snp	intronic	 	 	 	 	CNP	Cnp	ENSG00000173786	2',3'-cyclic nucleotide 3' phosphodiesterase	chr17:40118759-40129749		Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; schizophrenia; hypertension	Homozygous inactivation of this gene results in ataxia, gait abnormalities, hindlimb paralysis, muscle weakness, convulsive seizures, weight loss, kyphosis, reactive gliosis, axonal swellings and degeneration, and premature death.		GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009214;cyclic nucleotide catabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0021762;substantia nigra development;IEP|GO:0030900;forebrain development;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0046902;regulation of mitochondrial membrane permeability;IEA|GO:0048709;oligodendrocyte differentiation;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0031143;pseudopodium;IEA|GO:0035748;myelin sheath abaxonal region;IEA|GO:0035749;myelin sheath adaxonal region;IEA|GO:0042470;melanosome;IEA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IEA|GO:0004113;2',3'-cyclic-nucleotide 3'-phosphodiesterase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0030551;cyclic nucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNP			https://www.ncbi.nlm.nih.gov/omim/?term=123830	http://www.informatics.jax.org/searchtool/Search.do?query=CNP&submit=Quick%0D%13424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNP	rs12602950	0.688498	0	0	1	0	0	intronic	intronic	intronic	CNP	CNP	ENSG00000173786	Na	Na	Na	Na	Na	Na	Het;G>A	166;12|7	Hom;G>A	781;0|26
N	N	-	17	40412165	40412165	G	T	snp	intronic	 	 	 	 	STAT5B	Stat5b	ENSG00000173757	signal transducer and activator of transcription 5B	chr17:40351186-40428725	The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]	height; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Meningeal Neoplasms|meningioma; Cleft Lip|Cleft Palate|Tooth Abnormalities; myeloid leukemia; Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer	Mice homozygous for disruptions in this are reduced in size and mammary glands secrete reduced levels of some milk proteins during lactation.	Growth hormone receptor signaling	GO:0000255;allantoin metabolic process;IEA|GO:0001553;luteinization;IEA|GO:0001779;natural killer cell differentiation;IEA|GO:0006101;citrate metabolic process;IEA|GO:0006103;2-oxoglutarate metabolic process;IEA|GO:0006105;succinate metabolic process;IEA|GO:0006107;oxaloacetate metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006549;isoleucine metabolic process;IEA|GO:0006573;valine metabolic process;IEA|GO:0006600;creatine metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0007259;JAK-STAT cascade;TAS|GO:0007548;sex differentiation;IEA|GO:0007565;female pregnancy;IEA|GO:0007595;lactation;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019218;regulation of steroid metabolic process;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0019530;taurine metabolic process;IEA|GO:0019915;lipid storage;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0032355;response to estradiol;IDA|GO:0032819;positive regulation of natural killer cell proliferation;IEA|GO:0032825;positive regulation of natural killer cell differentiation;IEA|GO:0032870;cellular response to hormone stimulus;IDA|GO:0033077;T cell differentiation in thymus;IEA|GO:0038161;prolactin signaling pathway;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0042448;progesterone metabolic process;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045588;positive regulation of gamma-delta T cell differentiation;IEA|GO:0045621;positive regulation of lymphocyte differentiation;IEA|GO:0045647;negative regulation of erythrocyte differentiation;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IDA|GO:0045931;positive regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IEA|GO:0046449;creatinine metabolic process;IEA|GO:0046543;development of secondary female sexual characteristics;IEA|GO:0046544;development of secondary male sexual characteristics;IEA|GO:0048541;Peyer's patch development;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0070669;response to interleukin-2;IEA|GO:0070670;response to interleukin-4;IEA|GO:0070672;response to interleukin-15;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0097531;mast cell migration;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IEA|GO:0035259;glucocorticoid receptor binding;IPI|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STAT5B		https://hpo.jax.org/app/browse/search?q=STAT5B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604260	http://www.informatics.jax.org/searchtool/Search.do?query=STAT5B&submit=Quick%0D%13421ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAT5B	rs9895297	0.541134	0	0	1	0	0	intronic	intronic	intronic	STAT5B	STAT5B	ENSG00000173757	Na	Na	Na	Na	Na	Na	Het;G>T	95;4|4	Hom;G>T	77;0|3
N	N	-	17	40912760	40912760	A	G	snp	ncRNA_exonic	 	 	 	 	RAMP2-AS1																		rs1078523	0.372204	0	0.4487	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	RAMP2-AS1	RAMP2-AS1	ENSG00000197291	Na	Na	Na	Na	Na	Na	Het;A>G	406;26|20	Hom;A>G	1017;0|39
N	N	-	17	4139359	4139359	T	C	snp	intronic	 	 	 	 	ANKFY1	Ankfy1	ENSG00000185722	ankyrin repeat and FYVE domain containing 1	chr17:4067201-4167274	This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]		Mice homozygous for a knock-out allele exhibit partial embryonic lethality with no apparent neural developmental defects on a mixed genetic background but show complete embryonic lethality on highly homogenous genetic backgrounds.		GO:0006897;endocytosis;IEA|GO:0032439;endosome localization;IMP|GO:0034058;endosomal vesicle fusion;IDA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048549;positive regulation of pinocytosis;IDA|GO:0090160;Golgi to lysosome transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IDA|GO:0030904;retromer complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044354;macropinosome;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IDA|GO:0046872;metal ion binding;IEA|GO:1901981;phosphatidylinositol phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANKFY1			https://www.ncbi.nlm.nih.gov/omim/?term=607927	http://www.informatics.jax.org/searchtool/Search.do?query=ANKFY1&submit=Quick%0D%15474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKFY1	rs553093138	0.000399361	0	0	1	0	0	intronic	intronic	intronic	ANKFY1	ANKFY1	ENSG00000185722	Na	Na	Na	Na	Na	Na	Het;T>C	84;2|4	Hom;T>C	99;0|3
N	N	-	17	41463818	41463818	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00910																		rs79683307	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>G	53;1|2	Hom;A>G	460;0|11
N	N	-	17	41463820	41463820	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00910																		rs78988808	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>G	53;1|2	Hom;A>G	460;0|10
N	N	-	17	41464774	41464774	A	C	snp	ncRNA_exonic	 	 	 	 	LINC00910																		rs193245043	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>C	134;2|4	Hom;A>C	197;0|5
N	N	-	17	41464782	41464782	A	C	snp	ncRNA_exonic	 	 	 	 	LINC00910																		rs200946886	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>C	134;2|4	Hom;A>C	197;0|5
N	N	-	17	41464786	41464787	GT	G	indel	ncRNA_exonic	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;-T	125;2|4	Hom;-T	188;0|5
N	N	-	17	41464789	41464789	G	GC	indel	ncRNA_exonic	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;+C	125;2|4	Hom;+C	188;0|5
N	N	-	17	41464797	41464797	C	CG	indel	ncRNA_exonic	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;+G	125;2|4	Hom;+G	188;0|5
N	N	-	17	41464799	41464799	T	G	snp	ncRNA_exonic	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;T>G	134;2|4	Hom;T>G	197;0|5
N	N	-	17	41464802	41464803	CT	C	indel	ncRNA_exonic	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;-T	125;2|4	Hom;-T	188;0|5
N	N	-	17	41464807	41464807	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>G	134;2|4	Hom;A>G	197;0|5
N	N	-	17	41466522	41466522	T	G	snp	ncRNA_exonic	 	 	 	 	LINC00910																		rs144280248	0	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;T>G	431;1|11	Hom;T>G	422;0|10
N	N	-	17	41466526	41466530	CTAAT	C	indel	ncRNA_exonic	 	 	 	 	LINC00910																		rs372910692	0	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;-TAAT	422;1|11	Hom;-TAAT	413;0|10
N	N	-	17	41466532	41466532	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00910																		rs796936508	0	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>G	431;0|11	Hom;A>G	422;0|10
N	N	-	17	41466710	41466710	A	G	snp	upstream	 	 	 	 	LINC00910																		rs71236049	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>G	641;1|16	Hom;A>G	1142;0|26
N	N	-	17	41466714	41466714	T	C	snp	upstream	 	 	 	 	LINC00910																		rs112554519	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;T>C	641;1|15	Hom;T>C	1142;0|26
N	N	-	17	41466724	41466724	C	CT	indel	upstream	 	 	 	 	LINC00910																		rs796465667	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;+T	566;2|15	Hom;+T	1068;0|25
N	N	-	17	41466728	41466728	A	G	snp	upstream	 	 	 	 	LINC00910																		rs149531200	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>G	554;2|14	Hom;A>G	1097;0|25
N	N	-	17	41466730	41466730	G	C	snp	upstream	 	 	 	 	LINC00910																		rs141423614	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;G>C	554;2|14	Hom;G>C	1097;0|25
N	N	-	17	41466734	41466734	A	G	snp	upstream	 	 	 	 	LINC00910																		rs77710012	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>G	554;2|14	Hom;A>G	1097;0|24
N	N	-	17	41466769	41466769	T	G	snp	upstream	 	 	 	 	LINC00910																		rs80301082	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;T>G	366;2|10	Hom;T>G	773;0|18
N	N	-	17	41466778	41466778	T	C	snp	upstream	 	 	 	 	LINC00910																		rs75132799	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;T>C	344;2|9	Hom;T>C	737;0|17
N	N	-	17	41466797	41466800	TGTA	T	indel	upstream	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;-GTA	83;2|3	Hom;-GTA	323;0|8
N	N	-	17	41466803	41466803	G	GGGC	indel	upstream	 	 	 	 	LINC00910																		Na	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;+GGC	83;2|3	Hom;+GGC	323;0|8
N	N	-	17	41466816	41466816	A	T	snp	upstream	 	 	 	 	LINC00910																		rs796267837	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;A>T	92;2|3	Hom;A>T	241;0|6
N	N	-	17	41466817	41466817	T	C	snp	upstream	 	 	 	 	LINC00910																		rs796368305	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;T>C	92;2|3	Hom;T>C	241;0|6
N	N	-	17	41466822	41466822	G	T	snp	upstream	 	 	 	 	LINC00910																		rs796918242	0	0	0	1	0	0	upstream	upstream	upstream	LINC00910	LINC00910	ENSG00000188825	Na	Na	Na	Na	Na	Na	Het;G>T	92;2|3	Hom;G>T	197;0|5
N	N	-	17	41561601	41561608	CGGAAGGA	C	indel	intronic	 	 	 	 	DHX8	Dhx8	ENSG00000067596	DEAH-box helicase 8	chr17:41561233-41621831	This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]		 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;TAS|GO:0005737;cytoplasm;IBA|GO:0016604;nuclear body;IDA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DHX8	https://www.uniprot.org/uniprot/Q14562		https://www.ncbi.nlm.nih.gov/omim/?term=600396	http://www.informatics.jax.org/searchtool/Search.do?query=DHX8&submit=Quick%0D%1258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX8	rs11279905	0.897364	0.8577	0.8907	1	0	0	intronic	intronic	intronic	DHX8	DHX8	ENSG00000067596	Na	Na	Na	Na	Na	Na	Het;-GGAAGGA	976;23|26	Hom;-GGAAGGA	1214;2|45
N	N	-	17	41987062	41987062	A	G	snp	UTR5	-51T>C	 	 	 	MPP2	Mpp2	ENSG00000108852	membrane palmitoylated protein 2	chr17:41952725-41987068	 Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs).  MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions.  Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]		 		GO:0007165;signal transduction;TAS|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0051260;protein homooligomerization;ISS|GO:0060079;excitatory postsynaptic potential;ISS|GO:0060291;long-term synaptic potentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;TAS|GO:0030425;dendrite;IEA|GO:0032590;dendrite membrane;ISS|GO:0032591;dendritic spine membrane;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;ISS|GO:0043198;dendritic shaft;ISS	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IEA|GO:0044325;ion channel binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MPP2	https://www.uniprot.org/uniprot/Q14168		https://www.ncbi.nlm.nih.gov/omim/?term=600723	http://www.informatics.jax.org/searchtool/Search.do?query=MPP2&submit=Quick%0D%3786ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP2	rs3744416	0.317093	0	0	1	0	0	UTR5	UTR5	UTR5	MPP2(NM_001278371:c.-11316T>C,NM_001278370:c.-51T>C)	MPP2(uc010wip.1:c.-51T>C)	ENSG00000108852(ENST00000518766:c.-51T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1063;37|38	Hom;A>G	1456;0|48
N	N	-	17	42475983	42475983	G	C	snp	synonymous SNV	C3462G	T1154T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GPATCH8	Gpatch8	ENSG00000186566	G-patch domain containing 8	chr17:42472652-42580798	The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]	Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPATCH8			https://www.ncbi.nlm.nih.gov/omim/?term=614396	http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH8&submit=Quick%0D%15671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH8	rs936019	0.491613	0.5514	0.5630	1	0	0	exonic	exonic	exonic	GPATCH8	GPATCH8	ENSG00000186566	synonymous SNV	synonymous SNV	unknown	GPATCH8:NM_001304939:exon7:c.C3387G:p.T1129T,GPATCH8:NM_001304941:exon9:c.C3228G:p.T1076T,GPATCH8:NM_001304943:exon5:c.C3228G:p.T1076T,GPATCH8:NM_001304942:exon7:c.C3228G:p.T1076T,GPATCH8:NM_001002909:exon8:c.C3462G:p.T1154T,GPATCH8:NM_001304940:exon10:c.C3228G:p.T1076T,	GPATCH8:uc002igw.2:exon8:c.C3462G:p.T1154T,GPATCH8:uc002igv.2:exon7:c.C3228G:p.T1076T,GPATCH8:uc010wiz.2:exon9:c.C3228G:p.T1076T,	UNKNOWN	Het;G>C	1156;42|52	Hom;G>C	1819;0|64
N	N	-	17	42483233	42483233	T	A	snp	intronic	 	 	 	 	GPATCH8	Gpatch8	ENSG00000186566	G-patch domain containing 8	chr17:42472652-42580798	The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]	Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPATCH8			https://www.ncbi.nlm.nih.gov/omim/?term=614396	http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH8&submit=Quick%0D%15671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH8	rs2045088	0.445687	0	0	1	0	0	intronic	intronic	intronic	GPATCH8	GPATCH8	ENSG00000186566	Na	Na	Na	Na	Na	Na	Het;T>A	406;17|20	Hom;T>A	1064;2|41
N	N	-	17	42483531	42483531	T	A	snp	intronic	 	 	 	 	GPATCH8	Gpatch8	ENSG00000186566	G-patch domain containing 8	chr17:42472652-42580798	The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]	Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPATCH8			https://www.ncbi.nlm.nih.gov/omim/?term=614396	http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH8&submit=Quick%0D%15671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH8	rs1377808	0.54992	0	0	1	0	0	intronic	intronic	intronic	GPATCH8	GPATCH8	ENSG00000186566	Na	Na	Na	Na	Na	Na	Het;T>A	269;20|14	Hom;T>A	778;0|25
N	N	-	17	42501692	42501692	C	A	snp	intronic	 	 	 	 	GPATCH8	Gpatch8	ENSG00000186566	G-patch domain containing 8	chr17:42472652-42580798	The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]	Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPATCH8			https://www.ncbi.nlm.nih.gov/omim/?term=614396	http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH8&submit=Quick%0D%15671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH8	rs1869495	0.445487	0.5072	0.5427	1	0	0	intronic	intronic	intronic	GPATCH8	GPATCH8	ENSG00000186566	Na	Na	Na	Na	Na	Na	Het;C>A	749;47|39	Hom;C>A	1604;1|62
N	N	-	17	42724136	42724137	TA	T	indel	ncRNA_intronic	 	 	 	 	LINC01180																		rs149252745	0.390974	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01180	FZD2(dist=85506),C17orf104(dist=9625)	ENSG00000266979	Na	Na	Na	Na	Na	Na	Het;-A	152;2|11	Hom;-A	148;0|9
N	N	-	17	42824402	42824402	C	A	snp	intronic	 	 	 	 	DBF4B	 	ENSG00000161692	DBF4 zinc finger B	chr17:42785976-42829632	This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]		 		GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010571;positive regulation of nuclear cell cycle DNA replication;IMP|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0032147;activation of protein kinase activity;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0016235;aggresome;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0030295;protein kinase activator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DBF4B			https://www.ncbi.nlm.nih.gov/omim/?term=611661	http://www.informatics.jax.org/searchtool/Search.do?query=DBF4B&submit=Quick%0D%10604ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DBF4B	rs4793144	0.419529	0	0.4624	1	0	0	intronic	intronic	intronic	DBF4B	DBF4B	ENSG00000161692	Na	Na	Na	Na	Na	Na	Het;C>A	738;34|38	Hom;C>A	1635;1|65
N	N	-	17	42824731	42824731	G	A	snp	intronic	 	 	 	 	DBF4B	 	ENSG00000161692	DBF4 zinc finger B	chr17:42785976-42829632	This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]		 		GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010571;positive regulation of nuclear cell cycle DNA replication;IMP|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0032147;activation of protein kinase activity;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0016235;aggresome;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0030295;protein kinase activator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DBF4B			https://www.ncbi.nlm.nih.gov/omim/?term=611661	http://www.informatics.jax.org/searchtool/Search.do?query=DBF4B&submit=Quick%0D%10604ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DBF4B	rs9912745	0.471446	0.3840	0.4735	1	0	0	intronic	intronic	intronic	DBF4B	DBF4B	ENSG00000161692	Na	Na	Na	Na	Na	Na	Het;G>A	401;25|18	Hom;G>A	830;0|33
N	N	-	17	42847033	42847033	C	G	snp	intronic	 	 	 	 	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs58726064	0.460064	0.3789	0	1	0	0	intronic	intronic	intronic	ADAM11	ADAM11	ENSG00000073670	Na	Na	Na	Na	Na	Na	Het;C>G	94;4|4	Hom;C>G	543;0|19
N	N	-	17	42851634	42851634	G	A	snp	intronic	 	 	 	 	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs62066014	0.648562	0.5978	0.6357	1	0	0	intronic	intronic	intronic	ADAM11	ADAM11	ENSG00000073670	Na	Na	Na	Na	Na	Na	Het;G>A	861;28|42	Hom;G>A	2104;0|77
N	N	-	17	42851729	42851729	C	T	snp	synonymous SNV	C1059T	H353H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs35936481	0.645567	0.5902	0.6774	1	0	0	exonic	exonic	exonic	ADAM11	ADAM11	ENSG00000073670	synonymous SNV	synonymous SNV	unknown	ADAM11:NM_002390:exon12:c.C1059T:p.H353H,	ADAM11:uc002ihh.3:exon12:c.C1059T:p.H353H,ADAM11:uc010wjd.2:exon12:c.C459T:p.H153H,	UNKNOWN	Het;C>T	803;46|41	Hom;C>T	2433;0|96
N	N	-	17	42852604	42852604	G	T	snp	synonymous SNV	G1245T	S415S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs1558083	0.645567	0.5805	0.6412	1	0	0	exonic	exonic	exonic	ADAM11	ADAM11	ENSG00000073670	synonymous SNV	synonymous SNV	unknown	ADAM11:NM_002390:exon15:c.G1245T:p.S415S,	ADAM11:uc002ihh.3:exon15:c.G1245T:p.S415S,ADAM11:uc010wjd.2:exon15:c.G645T:p.S215S,	UNKNOWN	Het;G>T	500;25|24	Hom;G>T	1365;1|49
N	N	-	17	42853427	42853427	A	G	snp	intronic	 	 	 	 	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs4792955	0.65016	0	0	1	0	0	intronic	intronic	intronic	ADAM11	ADAM11	ENSG00000073670	Na	Na	Na	Na	Na	Na	Het;A>G	335;25|16	Hom;A>G	1890;0|64
N	N	-	17	42853694	42853694	C	T	snp	intronic	 	 	 	 	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs4793151	0.460663	0	0	1	0	0	intronic	intronic	intronic	ADAM11	ADAM11	ENSG00000073670	Na	Na	Na	Na	Na	Na	Het;C>T	186;5|7	Hom;C>T	260;0|8
N	N	-	17	42854208	42854208	G	A	snp	intronic	 	 	 	 	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs1558085	0.460663	0.3728	0.4695	1	0	0	intronic	intronic	intronic	ADAM11	ADAM11	ENSG00000073670	Na	Na	Na	Na	Na	Na	Het;G>A	1030;71|53	Hom;G>A	4031;0|153
N	N	-	17	42854502	42854502	G	A	snp	intronic	 	 	 	 	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs1558086	0.460663	0.3728	0.4739	1	0	0	intronic	intronic	intronic	ADAM11	ADAM11	ENSG00000073670	Na	Na	Na	Na	Na	Na	Het;G>A	561;21|25	Hom;G>A	1293;0|46
N	N	-	17	42854610	42854610	T	C	snp	synonymous SNV	T1758C	S586S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs8075210	0.645367	0.5803	0.6412	1	0	0	exonic	exonic	exonic	ADAM11	ADAM11	ENSG00000073670	synonymous SNV	synonymous SNV	unknown	ADAM11:NM_002390:exon21:c.T1758C:p.S586S,	ADAM11:uc002ihh.3:exon21:c.T1758C:p.S586S,ADAM11:uc010wjd.2:exon21:c.T1158C:p.S386S,	UNKNOWN	Het;T>C	1119;38|53	Hom;T>C	2554;0|97
N	N	-	17	42855248	42855248	T	C	snp	intronic	 	 	 	 	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs2070603	0.645367	0.5795	0.6410	1	0	0	intronic	intronic	intronic	ADAM11	ADAM11	ENSG00000073670	Na	Na	Na	Na	Na	Na	Het;T>C	1757;80|81	Hom;T>C	4322;0|155
N	N	-	17	42855554	42855554	T	C	snp	nonsynonymous SNV	T278C	L93S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ADAM11	Adam11	ENSG00000073670	ADAM metallopeptidase domain 11	chr17:42836399-42859214	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	alcohol associated symptoms; alcoholism	Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.	LGI-ADAM interactions	GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM11	https://www.uniprot.org/uniprot/O75078		https://www.ncbi.nlm.nih.gov/omim/?term=155120	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11	rs2070605	0.645367	0.5800	0.6433	1	0	0	exonic	exonic	exonic	ADAM11	ADAM11	ENSG00000073670	synonymous SNV	nonsynonymous SNV	unknown	ADAM11:NM_002390:exon25:c.T2220C:p.I740I,	ADAM11:uc002ihi.3:exon4:c.T278C:p.L93S,	UNKNOWN	Het;T>C	1633;67|74	Hom;T>C	3761;0|133
N	N	-	17	42932474	42932474	A	G	snp	intronic	 	 	 	 	EFTUD2	Eftud2	ENSG00000108883	elongation factor Tu GTP binding domain containing 2	chr17:42927311-42977030	This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Tobacco Use Disorder	Homozygous mice lacking exon 2 die before implantation while heterozygous mice show a transient developmental delay between E8.5-E9.5.	mRNA Splicing - Minor Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;TAS|GO:0008380;RNA splicing;TAS|GO:0035690;cellular response to drug;IEA|GO:0042220;response to cocaine;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005829;cytosol;IDA|GO:0015030;Cajal body;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0031012;extracellular matrix;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IDA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFTUD2	https://www.uniprot.org/uniprot/Q15029	https://hpo.jax.org/app/browse/search?q=EFTUD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603892	http://www.informatics.jax.org/searchtool/Search.do?query=EFTUD2&submit=Quick%0D%3790ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFTUD2	rs16971033	0.340455	0	0	1	0	0	intronic	intronic	intronic	EFTUD2	EFTUD2	ENSG00000108883	Na	Na	Na	Na	Na	Na	Het;A>G	31;5|2	Hom;A>G	173;0|7
N	N	-	17	43183028	43183028	G	A	snp	UTR3	*21G>A	 	 	 	NMT1	Nmt1	ENSG00000136448	N-myristoyltransferase 1	chr17:43128978-43186384	Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	Homozygous mutation of this gene results in embryonic lethality between E3.5 and E7.5. Heterozygotes show partial prenatal lethality. Mice homozygous for a conditional allele knocked out in T cells exhibit reduced T cell, double positive T cell and single positive T cell numbers.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001701;in utero embryonic development;IEA|GO:0006499;N-terminal protein myristoylation;TAS|GO:0018008;N-terminal peptidyl-glycine N-myristoylation;IDA|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA	GO:0004379;glycylpeptide N-tetradecanoyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019107;myristoyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NMT1	https://www.uniprot.org/uniprot/P30419		https://www.ncbi.nlm.nih.gov/omim/?term=160993	http://www.informatics.jax.org/searchtool/Search.do?query=NMT1&submit=Quick%0D%7344ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NMT1	rs1053733	0.50599	0.4008	0.4574	1	0	0	UTR3	UTR3	UTR3	NMT1(NM_021079:c.*21G>A)	NMT1(uc002ihz.3:c.*21G>A)	ENSG00000136448(ENST00000592782:c.*21G>A,ENST00000258960:c.*21G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	123;16|8	Hom;G>A	439;0|15
N	N	-	17	43191099	43191099	T	C	snp	intronic	 	 	 	 	PLCD3	Plcd3	ENSG00000161714	phospholipase C delta 3	chr17:43186335-43210721	This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Blood Pressure; HIV; blood pressure; systolic blood pressure; null	 	Synthesis of IP3 and IP4 in the cytosol	GO:0001525;angiogenesis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0060716;labyrinthine layer blood vessel development;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0032154;cleavage furrow;IEA	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCD3			https://www.ncbi.nlm.nih.gov/omim/?term=608795	http://www.informatics.jax.org/searchtool/Search.do?query=PLCD3&submit=Quick%0D%10605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCD3	rs2864881	0.791334	0	0	1	0	0	intronic	intronic	intronic	PLCD3	PLCD3	ENSG00000161714	Na	Na	Na	Na	Na	Na	Het;T>C	101;6|4	Hom;T>C	174;0|5
N	N	-	17	43213772	43213772	A	C	snp	UTR5	-312A>C	 	 	 	ACBD4	Acbd4	ENSG00000181513	acyl-CoA binding domain containing 4	chr17:43209967-43221548	This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	Blood Pressure; Body Height; systolic blood pressure	 	Peroxisomal lipid metabolism		GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000062;fatty-acyl-CoA binding;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACBD4				http://www.informatics.jax.org/searchtool/Search.do?query=ACBD4&submit=Quick%0D%14628ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACBD4	rs2306828	0.867612	0	0	1	0	0	intronic	UTR5	intronic	ACBD4	ACBD4(uc010dae.3:c.-312A>C)	ENSG00000181513	Na	Na	Na	Na	Na	Na	Het;A>C	377;1|11	Hom;A>C	335;0|10
N	N	-	17	43597662	43597662	C	T	snp	ncRNA_exonic	 	 	 	 	LRRC37A4P																		rs200083999	0.0660942	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LRRC37A4P	LRRC37A4P	ENSG00000131484,ENSG00000214425	Na	Na	Na	Na	Na	Na	Het;C>T	705;115|45	Hom;C>T	1097;0|42
N	N	-	17	44102682	44102682	C	CT	indel	UTR3	*1145C>CT	 	 	 	MAPT	Mapt	ENSG00000277956	microtubule associated protein tau	chr17:43971748-44105700	This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]	progressive supranuclear palsy; Chromosome Inversion|Dementia|Supranuclear Palsy, Progressive|Tauopathies; Amyloidosis|Myocardial Infarction; Brain Diseases|Neurodegenerative Diseases|Supranuclear Palsy, Progressive; Parkinson Disease; Parkinsons disease; longevity; Dementia|Tauopathies; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Memory Disorders|Neurodegenerative Diseases; cognitive ability; Alzheimer's disease ; Alzheimer Disease|Alzheimer's Disease|Parkinson Disease; Alzheimer's Disease; Alzheimer's disease reduced; Pick's disease; dementia; ALS/amyotrophic lateral sclerosis; Schizophrenia; depression; frontotemporal dementia; schizophrenia | autism; Dementia|Supranuclear Palsy, Progressive; Frontotemporal dementia|Movement Disorders|Progressive supranuclear palsy|Supranuclear Palsy, Progressive; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Dystonia|Psychomotor Disorders|Syndrome; Neurodegenerative Diseases|Supranuclear Palsy, Progressive; Parkinson's disease ; Alzheimer Disease|Alzheimer's Disease; Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal; ovarian cancer; Alzheimer's disease; Huntington's disease; progressive supranuclear palsy; dementia, frontotemporal; Dementia; frontotemporal dementia and Pick-like 3R and 4R tauopathy; Parkinson's disease; Supranuclear Palsy, Progressive; Creutzfeldt-Jakob disease|Creutzfeldt-Jakob Syndrome; dementia; neuropathy; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Alzheimer's disease dementia, frontotemporal Parkinson's disease; Alzheimer Disease|Dementia|; null; progressive supranuclear palsy Richardson's syndrome; Jakob-Creutzfeldt disease; posterior cortical atrophy; frontotemporal lobar degeneration; leukemia; inherited dementia FTDP-17; Frontotemporal dementia; Hip; Alzheimer's disease; Parkinson's disease ; dementia, frontotemporal; Familial atypical progressive supranuclear palsy; Brain Concussion; Amyotrophic Lateral Sclerosis|Dementia|Parkinsonian Disorders; primary progressive aphasia; Tauopathies; dementia	Homozygous mutants exhibit altered performance in behavioral tests and show mircotubule changes in small-calibre axons. Embryonic hippocampal cultures from mutants exhibit delayed axonal and neuritic maturation.	Caspase-mediated cleavage of cytoskeletal proteins	GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001774;microglial cell activation;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0007165;signal transduction;IEA|GO:0007613;memory;IMP|GO:0010506;regulation of autophagy;IGI|GO:0010917;negative regulation of mitochondrial membrane potential;IMP|GO:0019896;axonal transport of mitochondrion;TAS|GO:0031110;regulation of microtubule polymerization or depolymerization;IMP|GO:0031113;regulation of microtubule polymerization;NAS|GO:0031116;positive regulation of microtubule polymerization;IDA|GO:0031122;cytoplasmic microtubule organization;TAS|GO:0031175;neuron projection development;TAS|GO:0032930;positive regulation of superoxide anion generation;IMP|GO:0033673;negative regulation of kinase activity;IMP|GO:0034605;cellular response to heat;TAS|GO:0045773;positive regulation of axon extension;IDA|GO:0048143;astrocyte activation;TAS|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048699;generation of neurons;NAS|GO:0050808;synapse organization;IMP|GO:0050848;regulation of calcium-mediated signaling;IDA|GO:0051259;protein oligomerization;TAS|GO:0070507;regulation of microtubule cytoskeleton organization;IMP|GO:0072386;plus-end-directed organelle transport along microtubule;TAS|GO:0090140;regulation of mitochondrial fission;IC|GO:0090258;negative regulation of mitochondrial fission;IMP|GO:0097435;supramolecular fiber organization;IMP|GO:0098930;axonal transport;TAS|GO:1900034;regulation of cellular response to heat;IMP|GO:1901216;positive regulation of neuron death;IMP|GO:1902474;positive regulation of protein localization to synapse;IMP|GO:1902988;neurofibrillary tangle assembly;NAS|GO:1903748;negative regulation of establishment of protein localization to mitochondrion;IMP|GO:1903829;positive regulation of cellular protein localization;IMP|GO:1905689;positive regulation of diacylglycerol kinase activity;ISS|GO:1990000;amyloid fibril formation;IMP|GO:2000273;positive regulation of receptor activity;IEA|GO:2001020;regulation of response to DNA damage stimulus;IMP	GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;NAS|GO:0005875;microtubule associated complex;IBA|GO:0005886;plasma membrane;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0030424;axon;NAS|GO:0030425;dendrite;IDA|GO:0030426;growth cone;IDA|GO:0030673;axolemma;IDA|GO:0034399;nuclear periphery;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0036477;somatodendritic compartment;IMP|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IMP|GO:0044297;cell body;IDA|GO:0045298;tubulin complex;IDA|GO:0097418;neurofibrillary tangle;NAS|GO:1904115;axon cytoplasm;IEA	GO:0003677;DNA binding;ISS|GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IEA|GO:0017124;SH3 domain binding;IPI|GO:0019899;enzyme binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034452;dynactin binding;TAS|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP|GO:0048018;receptor agonist activity;IDA|GO:0051721;protein phosphatase 2A binding;TAS|GO:0051879;Hsp90 protein binding;ISS|GO:0071813;lipoprotein particle binding;IPI|GO:0099609;microtubule lateral binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/MAPT		https://hpo.jax.org/app/browse/search?q=MAPT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=157140	http://www.informatics.jax.org/searchtool/Search.do?query=MAPT&submit=Quick%0D%21935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPT	rs5820605	0.382188	0	0	1	0	0	UTR3	UTR3	UTR3	MAPT(NM_001203251:c.*1145C>CT,NM_001203252:c.*1145C>CT,NM_001123067:c.*1145C>CT,NM_005910:c.*1145C>CT,NM_016835:c.*1145C>CT,NM_016834:c.*1145C>CT,NM_016841:c.*1145C>CT,NM_001123066:c.*1145C>CT)	MAPT(uc010dau.3:c.*1145C>CT,uc002ijr.4:c.*1145C>CT,uc002ijs.4:c.*1145C>CT,uc002ijx.4:c.*1145C>CT,uc021tyv.1:c.*1145C>CT,uc002ijt.4:c.*1145C>CT,uc021tyw.1:c.*1145C>CT,uc002iju.4:c.*1145C>CT)	ENSG00000186868(ENST00000347967:c.*1145C>CT,ENST00000535772:c.*1145C>CT,ENST00000340799:c.*1145C>CT,ENST00000351559:c.*1145C>CT,ENST00000262410:c.*1145C>CT,ENST00000344290:c.*1145C>CT,ENST00000446361:c.*1145C>CT)	Na	Na	Na	Na	Na	Na	Het;+T	2458;70|73	Hom;+T	2723;0|69
N	N	-	17	44104612	44104612	T	TG	indel	UTR3	*3075T>TG	 	 	 	MAPT	Mapt	ENSG00000277956	microtubule associated protein tau	chr17:43971748-44105700	This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]	progressive supranuclear palsy; Chromosome Inversion|Dementia|Supranuclear Palsy, Progressive|Tauopathies; Amyloidosis|Myocardial Infarction; Brain Diseases|Neurodegenerative Diseases|Supranuclear Palsy, Progressive; Parkinson Disease; Parkinsons disease; longevity; Dementia|Tauopathies; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Memory Disorders|Neurodegenerative Diseases; cognitive ability; Alzheimer's disease ; Alzheimer Disease|Alzheimer's Disease|Parkinson Disease; Alzheimer's Disease; Alzheimer's disease reduced; Pick's disease; dementia; ALS/amyotrophic lateral sclerosis; Schizophrenia; depression; frontotemporal dementia; schizophrenia | autism; Dementia|Supranuclear Palsy, Progressive; Frontotemporal dementia|Movement Disorders|Progressive supranuclear palsy|Supranuclear Palsy, Progressive; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Dystonia|Psychomotor Disorders|Syndrome; Neurodegenerative Diseases|Supranuclear Palsy, Progressive; Parkinson's disease ; Alzheimer Disease|Alzheimer's Disease; Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal; ovarian cancer; Alzheimer's disease; Huntington's disease; progressive supranuclear palsy; dementia, frontotemporal; Dementia; frontotemporal dementia and Pick-like 3R and 4R tauopathy; Parkinson's disease; Supranuclear Palsy, Progressive; Creutzfeldt-Jakob disease|Creutzfeldt-Jakob Syndrome; dementia; neuropathy; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Alzheimer's disease dementia, frontotemporal Parkinson's disease; Alzheimer Disease|Dementia|; null; progressive supranuclear palsy Richardson's syndrome; Jakob-Creutzfeldt disease; posterior cortical atrophy; frontotemporal lobar degeneration; leukemia; inherited dementia FTDP-17; Frontotemporal dementia; Hip; Alzheimer's disease; Parkinson's disease ; dementia, frontotemporal; Familial atypical progressive supranuclear palsy; Brain Concussion; Amyotrophic Lateral Sclerosis|Dementia|Parkinsonian Disorders; primary progressive aphasia; Tauopathies; dementia	Homozygous mutants exhibit altered performance in behavioral tests and show mircotubule changes in small-calibre axons. Embryonic hippocampal cultures from mutants exhibit delayed axonal and neuritic maturation.	Caspase-mediated cleavage of cytoskeletal proteins	GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001774;microglial cell activation;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0007165;signal transduction;IEA|GO:0007613;memory;IMP|GO:0010506;regulation of autophagy;IGI|GO:0010917;negative regulation of mitochondrial membrane potential;IMP|GO:0019896;axonal transport of mitochondrion;TAS|GO:0031110;regulation of microtubule polymerization or depolymerization;IMP|GO:0031113;regulation of microtubule polymerization;NAS|GO:0031116;positive regulation of microtubule polymerization;IDA|GO:0031122;cytoplasmic microtubule organization;TAS|GO:0031175;neuron projection development;TAS|GO:0032930;positive regulation of superoxide anion generation;IMP|GO:0033673;negative regulation of kinase activity;IMP|GO:0034605;cellular response to heat;TAS|GO:0045773;positive regulation of axon extension;IDA|GO:0048143;astrocyte activation;TAS|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048699;generation of neurons;NAS|GO:0050808;synapse organization;IMP|GO:0050848;regulation of calcium-mediated signaling;IDA|GO:0051259;protein oligomerization;TAS|GO:0070507;regulation of microtubule cytoskeleton organization;IMP|GO:0072386;plus-end-directed organelle transport along microtubule;TAS|GO:0090140;regulation of mitochondrial fission;IC|GO:0090258;negative regulation of mitochondrial fission;IMP|GO:0097435;supramolecular fiber organization;IMP|GO:0098930;axonal transport;TAS|GO:1900034;regulation of cellular response to heat;IMP|GO:1901216;positive regulation of neuron death;IMP|GO:1902474;positive regulation of protein localization to synapse;IMP|GO:1902988;neurofibrillary tangle assembly;NAS|GO:1903748;negative regulation of establishment of protein localization to mitochondrion;IMP|GO:1903829;positive regulation of cellular protein localization;IMP|GO:1905689;positive regulation of diacylglycerol kinase activity;ISS|GO:1990000;amyloid fibril formation;IMP|GO:2000273;positive regulation of receptor activity;IEA|GO:2001020;regulation of response to DNA damage stimulus;IMP	GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;NAS|GO:0005875;microtubule associated complex;IBA|GO:0005886;plasma membrane;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0030424;axon;NAS|GO:0030425;dendrite;IDA|GO:0030426;growth cone;IDA|GO:0030673;axolemma;IDA|GO:0034399;nuclear periphery;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0036477;somatodendritic compartment;IMP|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IMP|GO:0044297;cell body;IDA|GO:0045298;tubulin complex;IDA|GO:0097418;neurofibrillary tangle;NAS|GO:1904115;axon cytoplasm;IEA	GO:0003677;DNA binding;ISS|GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IEA|GO:0017124;SH3 domain binding;IPI|GO:0019899;enzyme binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034452;dynactin binding;TAS|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP|GO:0048018;receptor agonist activity;IDA|GO:0051721;protein phosphatase 2A binding;TAS|GO:0051879;Hsp90 protein binding;ISS|GO:0071813;lipoprotein particle binding;IPI|GO:0099609;microtubule lateral binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/MAPT		https://hpo.jax.org/app/browse/search?q=MAPT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=157140	http://www.informatics.jax.org/searchtool/Search.do?query=MAPT&submit=Quick%0D%21935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPT	rs11331969	0.204872	0	0	1	0	0	UTR3	UTR3	UTR3	MAPT(NM_001203251:c.*3075T>TG,NM_001203252:c.*3075T>TG,NM_001123067:c.*3075T>TG,NM_005910:c.*3075T>TG,NM_016835:c.*3075T>TG,NM_016834:c.*3075T>TG,NM_016841:c.*3075T>TG,NM_001123066:c.*3075T>TG)	MAPT(uc010dau.3:c.*3075T>TG,uc002ijr.4:c.*3075T>TG,uc002ijs.4:c.*3075T>TG,uc002ijx.4:c.*3075T>TG,uc021tyv.1:c.*3075T>TG,uc002ijt.4:c.*3075T>TG,uc021tyw.1:c.*3075T>TG,uc002iju.4:c.*3075T>TG)	ENSG00000186868(ENST00000347967:c.*3075T>TG,ENST00000535772:c.*3075T>TG,ENST00000340799:c.*3075T>TG,ENST00000351559:c.*3075T>TG,ENST00000262410:c.*3075T>TG,ENST00000344290:c.*3075T>TG,ENST00000446361:c.*3075T>TG)	Na	Na	Na	Na	Na	Na	Het;+G	671;30|27	Hom;+G	801;0|26
N	N	-	17	44248848	44248848	G	A	snp	nonsynonymous SNV	C662T	T221I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KANSL1	Kansl1	ENSG00000278458	KAT8 regulatory NSL complex subunit 1	chr17:44107282-44302733	This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]	Parkinson Disease; Brain; Parkinson's disease ; Parkinson's disease	 			GO:0000123;histone acetyltransferase complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KANSL1		https://hpo.jax.org/app/browse/search?q=KANSL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612452	http://www.informatics.jax.org/searchtool/Search.do?query=KANSL1&submit=Quick%0D%22051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KANSL1	Na	0.0605032	0.1119	0.1230	0.54	7	13	exonic	exonic	exonic	KANSL1	KANSL1	ENSG00000120071	nonsynonymous SNV	nonsynonymous SNV	unknown	KANSL1:NM_001193466:exon2:c.C662T:p.T221I,KANSL1:NM_001193465:exon3:c.C662T:p.T221I,KANSL1:NM_015443:exon2:c.C662T:p.T221I,	KANSL1:uc010dav.3:exon3:c.C662T:p.T221I,KANSL1:uc002ikc.3:exon2:c.C662T:p.T221I,KANSL1:uc002ikd.3:exon2:c.C662T:p.T221I,	UNKNOWN	Het;G>A	1322;167|71	Hom;G>A	2052;0|78
N	N	-	17	4436869	4436869	C	T	snp	intronic	 	 	 	 	SPNS2	Spns2	ENSG00000183018	sphingolipid transporter 2	chr17:4402133-4442330	The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]	Lipids; Triglycerides	Mice homozygous for a knock-out allele exhibit symblepharon and impaired egress of T and B cells from the thymus and bone marrow, respectively. Mice homozygous for a different knock-out allele exhibit abnormal immune system, abnormal eye morphology and absent pinna reflex.		GO:0001782;B cell homeostasis;IEA|GO:0002260;lymphocyte homeostasis;IEA|GO:0002920;regulation of humoral immune response;IEA|GO:0003376;sphingosine-1-phosphate signaling pathway;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0040011;locomotion;IBA|GO:0043029;T cell homeostasis;IEA|GO:0048073;regulation of eye pigmentation;IEA|GO:0048535;lymph node development;IEA|GO:0055085;transmembrane transport;IEA|GO:0060348;bone development;IEA|GO:0072676;lymphocyte migration;IEA	GO:0005765;lysosomal membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA	GO:0046624;sphingolipid transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPNS2			https://www.ncbi.nlm.nih.gov/omim/?term=612584	http://www.informatics.jax.org/searchtool/Search.do?query=SPNS2&submit=Quick%0D%14900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPNS2	rs73335843	0.253195	0	0	1	0	0	intronic	intronic	intronic	SPNS2	SPNS2	ENSG00000183018	Na	Na	Na	Na	Na	Na	Het;C>T	98;2|4	Hom;C>T	144;0|5
N	N	-	17	4458302	4458302	C	A	snp	intronic	 	 	 	 	MYBBP1A	Mybbp1a	ENSG00000132382	MYB binding protein 1a	chr17:4442192-4458926	This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a targeted allele exhibit embryonic lethality before blastocyst formation.	B-WICH complex positively regulates rRNA expression	GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006913;nucleocytoplasmic transport;ISS|GO:0022904;respiratory electron transport chain;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0042149;cellular response to glucose starvation;IDA|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0071158;positive regulation of cell cycle arrest;IMP|GO:0071897;DNA biosynthetic process;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:2000210;positive regulation of anoikis;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0042564;NLS-dependent protein nuclear import complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001047;core promoter binding;ISS|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;ISS|GO:0003723;RNA binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;TAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYBBP1A	https://www.uniprot.org/uniprot/Q9BQG0		https://www.ncbi.nlm.nih.gov/omim/?term=604885	http://www.informatics.jax.org/searchtool/Search.do?query=MYBBP1A&submit=Quick%0D%6661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBBP1A	rs1871348	0.78135	0.7653	0.7997	1	0	0	intronic	intronic	intronic	MYBBP1A	MYBBP1A	ENSG00000132382	Na	Na	Na	Na	Na	Na	Het;C>A	708;25|33	Hom;C>A	2373;0|56
N	N	-	17	4458314	4458314	C	T	snp	intronic	 	 	 	 	MYBBP1A	Mybbp1a	ENSG00000132382	MYB binding protein 1a	chr17:4442192-4458926	This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a targeted allele exhibit embryonic lethality before blastocyst formation.	B-WICH complex positively regulates rRNA expression	GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006913;nucleocytoplasmic transport;ISS|GO:0022904;respiratory electron transport chain;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0042149;cellular response to glucose starvation;IDA|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0071158;positive regulation of cell cycle arrest;IMP|GO:0071897;DNA biosynthetic process;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:2000210;positive regulation of anoikis;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0042564;NLS-dependent protein nuclear import complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001047;core promoter binding;ISS|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;ISS|GO:0003723;RNA binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;TAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYBBP1A	https://www.uniprot.org/uniprot/Q9BQG0		https://www.ncbi.nlm.nih.gov/omim/?term=604885	http://www.informatics.jax.org/searchtool/Search.do?query=MYBBP1A&submit=Quick%0D%6661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBBP1A	rs1871347	0	0	0	1	0	0	intronic	intronic	intronic	MYBBP1A	MYBBP1A	ENSG00000132382	Na	Na	Na	Na	Na	Na	Het;C>T	550;22|23	Hom;C>T	2129;0|47
N	N	-	17	4463023	4463023	G	A	snp	nonsynonymous SNV	C173T	A58V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GGT6	Ggt6	ENSG00000167741	gamma-glutamyltransferase 6	chr17:4460222-4464113	GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]		 	Aflatoxin activation and detoxification	GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;IEA|GO:0006750;glutathione biosynthetic process;IEA|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0036374;glutathione hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGT6			https://www.ncbi.nlm.nih.gov/omim/?term=612341	http://www.informatics.jax.org/searchtool/Search.do?query=GGT6&submit=Quick%0D%12097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGT6	rs11657054	0.755391	0.7433	0.7666	0.62	8	13	exonic	exonic	exonic	GGT6	GGT6	ENSG00000167741	nonsynonymous SNV	nonsynonymous SNV	unknown	GGT6:NM_153338:exon2:c.C173T:p.A58V,GGT6:NM_001122890:exon2:c.C173T:p.A58V,GGT6:NM_001288703:exon2:c.C173T:p.A58V,GGT6:NM_001288704:exon2:c.C173T:p.A58V,GGT6:NM_001288702:exon2:c.C173T:p.A58V,	GGT6:uc002fyd.4:exon2:c.C173T:p.A58V,GGT6:uc010vsc.2:exon2:c.C173T:p.A58V,GGT6:uc002fyc.4:exon2:c.C173T:p.A58V,	UNKNOWN	Het;G>A	738;45|37	Hom;G>A	2216;0|83
N	N	-	17	4495740	4495740	G	A	snp	nonsynonymous SNV	G52A	A18T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SMTNL2	Smtnl2	ENSG00000188176	smoothelin like 2	chr17:4487294-4511614			 					http://www.genecards.org/index.php?path=/Search/keyword/SMTNL2				http://www.informatics.jax.org/searchtool/Search.do?query=SMTNL2&submit=Quick%0D%15983ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMTNL2	rs12449695	0.331869	0.2463	0.3378	0.08	1	12	exonic	exonic	exonic	SMTNL2	SMTNL2	ENSG00000188176	nonsynonymous SNV	nonsynonymous SNV	unknown	SMTNL2:NM_198501:exon2:c.G52A:p.A18T,SMTNL2:NM_001114974:exon2:c.G484A:p.A162T,	SMTNL2:uc002fye.2:exon2:c.G52A:p.A18T,SMTNL2:uc002fyf.1:exon2:c.G484A:p.A162T,	UNKNOWN	Het;G>A	598;26|31	Hom;G>A	864;0|32
N	N	-	17	4535385	4535385	A	G	snp	intronic	 	 	 	 	ALOX15	Alox15	ENSG00000161905	arachidonate 15-lipoxygenase	chr17:4534197-4545589		Brain Ischemia|Myocardial Infarction|Stroke; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atherosclerosis|Carotid Artery Diseases; bone density; Endometriosis|Infertility, Female; Bone Mineral Density; Meningeal Neoplasms|meningioma; Coronary Artery Disease|Kidney Neoplasms; Carotid Artery Diseases; lung cancer; bladder cancer; Alzheimer's disease ; lung cancer ; Asthma|Drug Hypersensitivity; atherosclerosis; Coronary Artery Disease; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Asthma|Bronchial Hyperreactivity; Inflammation|Myocardial Infarction|Thrombosis	Mice homozygous for a knock-out allele show altered arachidonic acid metabolism and develop a myeloproliferative disorder associated with splenomegaly, abnormal splenic architecture, leukocystosis, basophilia, abnormal lymph node morphology, dermatitis, and premature death likely due to anemia.	Interleukin-4 and 13 signaling	GO:0001503;ossification;IEA|GO:0002820;negative regulation of adaptive immune response;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;IEA|GO:0006691;leukotriene metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0010811;positive regulation of cell-substrate adhesion;IDA|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0030282;bone mineralization;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035358;regulation of peroxisome proliferator activated receptor signaling pathway;IEA|GO:0035963;cellular response to interleukin-13;IMP|GO:0042060;wound healing;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0051122;hepoxilin biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA|GO:1901074;regulation of engulfment of apoptotic cell;IEA|GO:2001303;lipoxin A4 biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA	GO:0004052;arachidonate 12-lipoxygenase activity;TAS|GO:0005506;iron ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0046872;metal ion binding;IEA|GO:0047977;hepoxilin-epoxide hydrolase activity;IEA|GO:0050473;arachidonate 15-lipoxygenase activity;TAS|GO:0051120;hepoxilin A3 synthase activity;IEA|GO:0051213;dioxygenase activity;IEA|GO:0097260;eoxin A4 synthase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ALOX15			https://www.ncbi.nlm.nih.gov/omim/?term=152392	http://www.informatics.jax.org/searchtool/Search.do?query=ALOX15&submit=Quick%0D%10619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOX15	rs2619112	0.552316	0.5365	0.5339	1	0	0	intronic	intronic	intronic	ALOX15	ALOX15	ENSG00000161905	Na	Na	Na	Na	Na	Na	Het;A>G	834;51|41	Hom;A>G	2167;0|75
N	N	-	17	4535413	4535413	T	C	snp	intronic	 	 	 	 	ALOX15	Alox15	ENSG00000161905	arachidonate 15-lipoxygenase	chr17:4534197-4545589		Brain Ischemia|Myocardial Infarction|Stroke; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atherosclerosis|Carotid Artery Diseases; bone density; Endometriosis|Infertility, Female; Bone Mineral Density; Meningeal Neoplasms|meningioma; Coronary Artery Disease|Kidney Neoplasms; Carotid Artery Diseases; lung cancer; bladder cancer; Alzheimer's disease ; lung cancer ; Asthma|Drug Hypersensitivity; atherosclerosis; Coronary Artery Disease; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Asthma|Bronchial Hyperreactivity; Inflammation|Myocardial Infarction|Thrombosis	Mice homozygous for a knock-out allele show altered arachidonic acid metabolism and develop a myeloproliferative disorder associated with splenomegaly, abnormal splenic architecture, leukocystosis, basophilia, abnormal lymph node morphology, dermatitis, and premature death likely due to anemia.	Interleukin-4 and 13 signaling	GO:0001503;ossification;IEA|GO:0002820;negative regulation of adaptive immune response;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;IEA|GO:0006691;leukotriene metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0010811;positive regulation of cell-substrate adhesion;IDA|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0030282;bone mineralization;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035358;regulation of peroxisome proliferator activated receptor signaling pathway;IEA|GO:0035963;cellular response to interleukin-13;IMP|GO:0042060;wound healing;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0051122;hepoxilin biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA|GO:1901074;regulation of engulfment of apoptotic cell;IEA|GO:2001303;lipoxin A4 biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA	GO:0004052;arachidonate 12-lipoxygenase activity;TAS|GO:0005506;iron ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0046872;metal ion binding;IEA|GO:0047977;hepoxilin-epoxide hydrolase activity;IEA|GO:0050473;arachidonate 15-lipoxygenase activity;TAS|GO:0051120;hepoxilin A3 synthase activity;IEA|GO:0051213;dioxygenase activity;IEA|GO:0097260;eoxin A4 synthase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ALOX15			https://www.ncbi.nlm.nih.gov/omim/?term=152392	http://www.informatics.jax.org/searchtool/Search.do?query=ALOX15&submit=Quick%0D%10619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOX15	rs6502804	0.532348	0	0	1	0	0	intronic	intronic	intronic	ALOX15	ALOX15	ENSG00000161905	Na	Na	Na	Na	Na	Na	Het;T>C	652;37|33	Hom;T>C	1684;0|60
N	N	-	17	4539392	4539392	C	T	snp	intronic	 	 	 	 	ALOX15	Alox15	ENSG00000161905	arachidonate 15-lipoxygenase	chr17:4534197-4545589		Brain Ischemia|Myocardial Infarction|Stroke; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atherosclerosis|Carotid Artery Diseases; bone density; Endometriosis|Infertility, Female; Bone Mineral Density; Meningeal Neoplasms|meningioma; Coronary Artery Disease|Kidney Neoplasms; Carotid Artery Diseases; lung cancer; bladder cancer; Alzheimer's disease ; lung cancer ; Asthma|Drug Hypersensitivity; atherosclerosis; Coronary Artery Disease; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Asthma|Bronchial Hyperreactivity; Inflammation|Myocardial Infarction|Thrombosis	Mice homozygous for a knock-out allele show altered arachidonic acid metabolism and develop a myeloproliferative disorder associated with splenomegaly, abnormal splenic architecture, leukocystosis, basophilia, abnormal lymph node morphology, dermatitis, and premature death likely due to anemia.	Interleukin-4 and 13 signaling	GO:0001503;ossification;IEA|GO:0002820;negative regulation of adaptive immune response;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;IEA|GO:0006691;leukotriene metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0010811;positive regulation of cell-substrate adhesion;IDA|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0030282;bone mineralization;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035358;regulation of peroxisome proliferator activated receptor signaling pathway;IEA|GO:0035963;cellular response to interleukin-13;IMP|GO:0042060;wound healing;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0051122;hepoxilin biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA|GO:1901074;regulation of engulfment of apoptotic cell;IEA|GO:2001303;lipoxin A4 biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA	GO:0004052;arachidonate 12-lipoxygenase activity;TAS|GO:0005506;iron ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0046872;metal ion binding;IEA|GO:0047977;hepoxilin-epoxide hydrolase activity;IEA|GO:0050473;arachidonate 15-lipoxygenase activity;TAS|GO:0051120;hepoxilin A3 synthase activity;IEA|GO:0051213;dioxygenase activity;IEA|GO:0097260;eoxin A4 synthase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ALOX15			https://www.ncbi.nlm.nih.gov/omim/?term=152392	http://www.informatics.jax.org/searchtool/Search.do?query=ALOX15&submit=Quick%0D%10619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOX15	rs7217186	0.467652	0	0	1	0	0	intronic	intronic	intronic	ALOX15	ALOX15	ENSG00000161905	Na	Na	Na	Na	Na	Na	Het;C>T	132;2|5	Hom;C>T	270;0|9
N	N	-	17	4540277	4540277	C	T	snp	intronic	 	 	 	 	ALOX15	Alox15	ENSG00000161905	arachidonate 15-lipoxygenase	chr17:4534197-4545589		Brain Ischemia|Myocardial Infarction|Stroke; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Atherosclerosis|Carotid Artery Diseases; bone density; Endometriosis|Infertility, Female; Bone Mineral Density; Meningeal Neoplasms|meningioma; Coronary Artery Disease|Kidney Neoplasms; Carotid Artery Diseases; lung cancer; bladder cancer; Alzheimer's disease ; lung cancer ; Asthma|Drug Hypersensitivity; atherosclerosis; Coronary Artery Disease; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Asthma|Bronchial Hyperreactivity; Inflammation|Myocardial Infarction|Thrombosis	Mice homozygous for a knock-out allele show altered arachidonic acid metabolism and develop a myeloproliferative disorder associated with splenomegaly, abnormal splenic architecture, leukocystosis, basophilia, abnormal lymph node morphology, dermatitis, and premature death likely due to anemia.	Interleukin-4 and 13 signaling	GO:0001503;ossification;IEA|GO:0002820;negative regulation of adaptive immune response;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;IEA|GO:0006691;leukotriene metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0010811;positive regulation of cell-substrate adhesion;IDA|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0030282;bone mineralization;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IEA|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035358;regulation of peroxisome proliferator activated receptor signaling pathway;IEA|GO:0035963;cellular response to interleukin-13;IMP|GO:0042060;wound healing;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0051122;hepoxilin biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA|GO:1901074;regulation of engulfment of apoptotic cell;IEA|GO:2001303;lipoxin A4 biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA	GO:0004052;arachidonate 12-lipoxygenase activity;TAS|GO:0005506;iron ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0046872;metal ion binding;IEA|GO:0047977;hepoxilin-epoxide hydrolase activity;IEA|GO:0050473;arachidonate 15-lipoxygenase activity;TAS|GO:0051120;hepoxilin A3 synthase activity;IEA|GO:0051213;dioxygenase activity;IEA|GO:0097260;eoxin A4 synthase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ALOX15			https://www.ncbi.nlm.nih.gov/omim/?term=152392	http://www.informatics.jax.org/searchtool/Search.do?query=ALOX15&submit=Quick%0D%10619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOX15	rs2619118	0.424121	0	0	1	0	0	intronic	intronic	intronic	ALOX15	ALOX15	ENSG00000161905	Na	Na	Na	Na	Na	Na	Het;C>T	147;5|6	Hom;C>T	144;0|5
N	N	-	17	4638484	4638484	T	C	snp	synonymous SNV	A678G	P226P	hydrophobic,neutral	hydrophobic,neutral	CXCL16	Cxcl16	ENSG00000161921	C-X-C motif chemokine ligand 16	chr17:4636821-4643217		Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Apoplexy|Atherosclerosis|Carotid Artery Diseases|Stroke; Glucose; coronary artery disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Kidney Failure, Chronic; respiratory syncytial virus bronchiolitis	Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment.	G alpha (i) signalling events	GO:0006898;receptor-mediated endocytosis;NAS|GO:0006935;chemotaxis;IEA|GO:0010818;T cell chemotaxis;IEA|GO:0030307;positive regulation of cell growth;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0034097;response to cytokine;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0034612;response to tumor necrosis factor;IDA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005041;low-density lipoprotein receptor activity;IEA|GO:0005044;scavenger receptor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;IDA|GO:0042379;chemokine receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CXCL16			https://www.ncbi.nlm.nih.gov/omim/?term=605398	http://www.informatics.jax.org/searchtool/Search.do?query=CXCL16&submit=Quick%0D%10623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL16	rs1876444	0.530751	0.5062	0.5576	1	0	0	exonic	exonic	exonic	CXCL16	CXCL16	ENSG00000161921	synonymous SNV	synonymous SNV	unknown	CXCL16:NM_001100812:exon4:c.A678G:p.P226P,CXCL16:NM_022059:exon4:c.A678G:p.P226P,	CXCL16:uc002fys.4:exon4:c.A678G:p.P226P,CXCL16:uc002fyr.4:exon4:c.A678G:p.P226P,	UNKNOWN	Het;T>C	1083;29|45	Hom;T>C	2797;0|99
N	N	-	17	4641755	4641755	C	T	snp	synonymous SNV	G306A	G102G	aliphatic,neutral	aliphatic,neutral	CXCL16	Cxcl16	ENSG00000161921	C-X-C motif chemokine ligand 16	chr17:4636821-4643217		Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Apoplexy|Atherosclerosis|Carotid Artery Diseases|Stroke; Glucose; coronary artery disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Kidney Failure, Chronic; respiratory syncytial virus bronchiolitis	Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment.	G alpha (i) signalling events	GO:0006898;receptor-mediated endocytosis;NAS|GO:0006935;chemotaxis;IEA|GO:0010818;T cell chemotaxis;IEA|GO:0030307;positive regulation of cell growth;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0034097;response to cytokine;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0034612;response to tumor necrosis factor;IDA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005041;low-density lipoprotein receptor activity;IEA|GO:0005044;scavenger receptor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;IDA|GO:0042379;chemokine receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CXCL16			https://www.ncbi.nlm.nih.gov/omim/?term=605398	http://www.informatics.jax.org/searchtool/Search.do?query=CXCL16&submit=Quick%0D%10623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL16	rs1050997	0.624002	0.6662	0.7082	1	0	0	exonic	exonic	exonic	CXCL16	CXCL16	ENSG00000161921	synonymous SNV	synonymous SNV	unknown	CXCL16:NM_001100812:exon3:c.G306A:p.G102G,CXCL16:NM_022059:exon3:c.G306A:p.G102G,	CXCL16:uc002fys.4:exon3:c.G306A:p.G102G,CXCL16:uc002fyr.4:exon3:c.G306A:p.G102G,	UNKNOWN	Het;C>T	474;75|31	Hom;C>T	1681;0|64
N	N	-	17	4642069	4642069	A	G	snp	intronic	 	 	 	 	CXCL16	Cxcl16	ENSG00000161921	C-X-C motif chemokine ligand 16	chr17:4636821-4643217		Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Apoplexy|Atherosclerosis|Carotid Artery Diseases|Stroke; Glucose; coronary artery disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Kidney Failure, Chronic; respiratory syncytial virus bronchiolitis	Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment.	G alpha (i) signalling events	GO:0006898;receptor-mediated endocytosis;NAS|GO:0006935;chemotaxis;IEA|GO:0010818;T cell chemotaxis;IEA|GO:0030307;positive regulation of cell growth;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0034097;response to cytokine;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0034612;response to tumor necrosis factor;IDA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005041;low-density lipoprotein receptor activity;IEA|GO:0005044;scavenger receptor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;IDA|GO:0042379;chemokine receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CXCL16			https://www.ncbi.nlm.nih.gov/omim/?term=605398	http://www.informatics.jax.org/searchtool/Search.do?query=CXCL16&submit=Quick%0D%10623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL16	rs2250333	0.674521	0.7374	0.7565	1	0	0	intronic	intronic	intronic	CXCL16	CXCL16	ENSG00000161921	Na	Na	Na	Na	Na	Na	Het;A>G	824;42|41	Hom;A>G	2041;2|76
N	N	-	17	4642787	4642787	C	A	snp	UTR5	-96G>T	 	 	 	CXCL16	Cxcl16	ENSG00000161921	C-X-C motif chemokine ligand 16	chr17:4636821-4643217		Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Apoplexy|Atherosclerosis|Carotid Artery Diseases|Stroke; Glucose; coronary artery disease; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Kidney Failure, Chronic; respiratory syncytial virus bronchiolitis	Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment.	G alpha (i) signalling events	GO:0006898;receptor-mediated endocytosis;NAS|GO:0006935;chemotaxis;IEA|GO:0010818;T cell chemotaxis;IEA|GO:0030307;positive regulation of cell growth;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0034097;response to cytokine;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0034612;response to tumor necrosis factor;IDA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005041;low-density lipoprotein receptor activity;IEA|GO:0005044;scavenger receptor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;IDA|GO:0042379;chemokine receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CXCL16			https://www.ncbi.nlm.nih.gov/omim/?term=605398	http://www.informatics.jax.org/searchtool/Search.do?query=CXCL16&submit=Quick%0D%10623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL16	rs2304970	0.579473	0	0	1	0	0	UTR5	UTR5	UTR5	CXCL16(NM_022059:c.-96G>T,NM_001100812:c.-96G>T)	CXCL16(uc002fyr.4:c.-96G>T,uc002fys.4:c.-96G>T)	ENSG00000161921(ENST00000293778:c.-96G>T,ENST00000574412:c.-96G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	315;5|14	Hom;C>A	377;0|13
N	N	-	17	4645324	4645324	T	C	snp	synonymous SNV	T942C	H314H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZMYND15	Zmynd15	ENSG00000141497	zinc finger MYND-type containing 15	chr17:4643319-4649411	This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]	Spermatogenic failure 14	Mice homozygous for a knock-out allele of Cxcl16 and Zmynd15 exhibit abnormal spermiogenesis and reduced male fertility.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMYND15	https://www.uniprot.org/uniprot/Q9H091	https://hpo.jax.org/app/browse/search?q=ZMYND15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614312	http://www.informatics.jax.org/searchtool/Search.do?query=ZMYND15&submit=Quick%0D%8174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYND15	rs3826517	0.256589	0.3351	0.3601	1	0	0	exonic	exonic	exonic	ZMYND15	ZMYND15	ENSG00000141497	synonymous SNV	synonymous SNV	unknown	ZMYND15:NM_001136046:exon4:c.T942C:p.H314H,ZMYND15:NM_032265:exon4:c.T942C:p.H314H,ZMYND15:NM_001267822:exon4:c.T942C:p.H314H,	ZMYND15:uc002fyu.3:exon4:c.T942C:p.H314H,ZMYND15:uc002fyv.3:exon4:c.T942C:p.H314H,ZMYND15:uc002fyt.3:exon4:c.T942C:p.H314H,	UNKNOWN	Het;T>C	1126;52|51	Hom;T>C	2385;0|88
N	N	-	17	4647002	4647002	A	G	snp	intronic	 	 	 	 	ZMYND15	Zmynd15	ENSG00000141497	zinc finger MYND-type containing 15	chr17:4643319-4649411	This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]	Spermatogenic failure 14	Mice homozygous for a knock-out allele of Cxcl16 and Zmynd15 exhibit abnormal spermiogenesis and reduced male fertility.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMYND15	https://www.uniprot.org/uniprot/Q9H091	https://hpo.jax.org/app/browse/search?q=ZMYND15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614312	http://www.informatics.jax.org/searchtool/Search.do?query=ZMYND15&submit=Quick%0D%8174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYND15	rs8082690	0.688898	0.6748	0	1	0	0	intronic	intronic	intronic	ZMYND15	ZMYND15	ENSG00000141497	Na	Na	Na	Na	Na	Na	Het;A>G	719;42|31	Hom;A>G	1169;0|41
N	N	-	17	4684095	4684095	G	A	snp	synonymous SNV	G189A	P63P	hydrophobic,neutral	hydrophobic,neutral	TM4SF5	Tm4sf5	ENSG00000142484	transmembrane 4 L six family member 5	chr17:4675179-4686506	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]	Sphingolipids	 			GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TM4SF5	https://www.uniprot.org/uniprot/O14894		https://www.ncbi.nlm.nih.gov/omim/?term=604657	http://www.informatics.jax.org/searchtool/Search.do?query=TM4SF5&submit=Quick%0D%8286ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TM4SF5	rs13520	0.326677	0.4238	0.4372	1	0	0	exonic	exonic	exonic	TM4SF5	TM4SF5	ENSG00000142484	synonymous SNV	synonymous SNV	unknown	TM4SF5:NM_003963:exon2:c.G189A:p.P63P,	TM4SF5:uc002fyw.1:exon2:c.G189A:p.P63P,	UNKNOWN	Het;G>A	1205;67|60	Hom;G>A	2749;0|103
N	N	-	17	47022270	47022270	C	T	snp	UTR5	-174G>A	 	 	 	SNF8	Snf8	ENSG00000159210	SNF8, ESCRT-II complex subunit	chr17:47006678-47022479	The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]	Neuroblastoma	 	Endosomal Sorting Complex Required For Transport (ESCRT)	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006810;transport;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010797;regulation of multivesicular body size involved in endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0032456;endocytic recycling;IMP|GO:0036258;multivesicular body assembly;TAS|GO:0042176;regulation of protein catabolic process;IMP|GO:0043328;protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IBA|GO:0045022;early endosome to late endosome transport;IMP|GO:0045732;positive regulation of protein catabolic process;IMP|GO:0061635;regulation of protein complex stability;IMP|GO:0065009;regulation of molecular function;IEA|GO:0071985;multivesicular body sorting pathway;TAS|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903772;regulation of viral budding via host ESCRT complex;IMP	GO:0000814;ESCRT II complex;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016247;channel regulator activity;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNF8			https://www.ncbi.nlm.nih.gov/omim/?term=610904	http://www.informatics.jax.org/searchtool/Search.do?query=SNF8&submit=Quick%0D%10302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNF8	rs2270574	0.424121	0	0	1	0	0	upstream	upstream	UTR5	SNF8	SNF8	ENSG00000159210(ENST00000502492:c.-174G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	69;3|4	Hom;C>T	54;0|3
N	N	-	17	48246775	48246775	T	TACAC	indel	UTR3	*64T>TACAC	 	 	 	SGCA	Sgca	ENSG00000108823	sarcoglycan alpha	chr17:48241575-48253292	This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2D	Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy.		GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0061024;membrane organization;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;TAS|GO:0016011;dystroglycan complex;IEA|GO:0016012;sarcoglycan complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA|GO:0045121;membrane raft;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGCA	https://www.uniprot.org/uniprot/Q16586	https://hpo.jax.org/app/browse/search?q=SGCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600119	http://www.informatics.jax.org/searchtool/Search.do?query=SGCA&submit=Quick%0D%3775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCA	rs3986433	0	0	0	1	0	0	intronic	UTR3	UTR3	SGCA	SGCA(uc010wmh.1:c.*64T>TACAC)	ENSG00000108823(ENST00000451235:c.*64T>TACAC,ENST00000502555:c.*566T>TACAC)	Na	Na	Na	Na	Na	Na	Het;+ACAC	86;1|3	Hom;+ACAC	137;0|4
N	N	-	17	48273439	48273439	T	C	snp	intronic	 	 	 	 	COL1A1	Col1a1	ENSG00000108821	collagen type I alpha 1 chain	chr17:48260650-48278993	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]	Fractures, Bone|Osteoporosis; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; lumbar disc disease; osteoporosis; Spinal Fractures; aortic stiffness; bone density; Intervertebral Disk Displacement; Periodontitis; osteoporosis, postmenopausal; estradiol; bone fractures; bone density; fractures; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; beta Thalassemia|beta-Thalassemia|Osteoporosis; Myopia; Bone Mineral Density; Osteogenesis imperfecta; Hepatitis B, Chronic|Liver Cirrhosis; bone density; muscle strength; bone mineral density; Degenerative arthropathy |Osteoarthritis; urinary incontinence; Neoplasms|Osteoporosis; bone cancer; otosclerosis; Hip Fractures|Osteoporosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Fractures, Bone|Osteoporosis|Spinal Fractures; Type 2 Diabetes| edema | rosiglitazone; osteogenesis Imperfecta; Body Weight|Colles' Fracture|Fractures, Spontaneous|Osteoporosis, Postmenopausal; Uterine Prolapse; Dwarfism, Pituitary; Osteoporosis, Postmenopausal; normal variation; oral submucous fibrosis; pregnancy loss, recurrent; bone density; fractures, vertebral; Myopia, Degenerative; Clubfoot; femoral neck geometry; Uterine Cervical Incompetence; periodontitis; Osteoporosis; Tobacco Use Disorder; Inflammation|Premature Birth; Fractures, Bone|Osteoporosis, Postmenopausal; Fractures, Bone; bone mass; mild osteogenesis imperfecta; null; Alzheimer's disease ; Osteoporosis|Spinal Fractures; hearing loss/deafness; osteogenesis imperfecta; smoking; hip dislocation, congenital; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; beta Thalassemia|beta-Thalassemia|Bone Diseases, Metabolic|Osteoporosis|Thalassemia; hearing impairment|Hearing Loss|Otosclerosis; achondroplasia; prevalent fractures; Premature Birth; osteoporosis; cirrhosis, primary biliary; betaCL osteocalcin; alcoholism; Fractures, Spontaneous|Osteoporosis, Postmenopausal|Spinal Fractures; Bone Diseases, Metabolic|Osteoporosis; bone density osteoporosis; Shoulder Dislocation|Soft Tissue Injuries; Coronary Artery Disease|Insulin Resistance|Myocardial Infarction; Hip Fractures; infertility, male; Infection|Inflammation|Premature Birth; Femoral Neck Fractures|Fractures, Stress; spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary|Osteoporosis; mild chondrodysplasia; preeclampsia; leukemia | bone mineral density; beta-Thalassemia|Osteoporosis; Osteoarthritis, Hip; osteoarthritis; bone loss; Breast cancer; Bone Diseases|Osteoporosis; plasma protein C levels; bone characteristics; Fractures, Spontaneous|Osteoporosis, Postmenopausal	Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection.	Collagen chain trimerization	GO:0001501;skeletal system development;IMP|GO:0001503;ossification;IEA|GO:0001568;blood vessel development;IMP|GO:0001649;osteoblast differentiation;IEA|GO:0001957;intramembranous ossification;IEA|GO:0001958;endochondral ossification;IEA|GO:0007584;response to nutrient;IEA|GO:0007596;blood coagulation;TAS|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0009612;response to mechanical stimulus;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010812;negative regulation of cell-substrate adhesion;IEA|GO:0015031;protein transport;IEA|GO:0030168;platelet activation;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032355;response to estradiol;IEA|GO:0032964;collagen biosynthetic process;IMP|GO:0034504;protein localization to nucleus;IDA|GO:0034505;tooth mineralization;IMP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0042060;wound healing;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043588;skin development;IEA|GO:0043589;skin morphogenesis;IMP|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0044691;tooth eruption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048545;response to steroid hormone;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IMP|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0051591;response to cAMP;IEA|GO:0055093;response to hyperoxia;IEA|GO:0060325;face morphogenesis;IEA|GO:0060346;bone trabecula formation;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0070208;protein heterotrimerization;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071306;cellular response to vitamin E;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:1902617;response to fluoride;IEA|GO:1902618;cellular response to fluoride;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005584;collagen type I trimer;IDA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0030141;secretory granule;IEA|GO:0031012;extracellular matrix;IDA	GO:0002020;protease binding;IPI|GO:0005201;extracellular matrix structural constituent;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL1A1	https://www.uniprot.org/uniprot/P02452	https://hpo.jax.org/app/browse/search?q=COL1A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120150	http://www.informatics.jax.org/searchtool/Search.do?query=COL1A1&submit=Quick%0D%3774ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL1A1	rs2734281	0.792532	0.8620	0	1	0	0	intronic	intronic	intronic	COL1A1	COL1A1	ENSG00000108821	Na	Na	Na	Na	Na	Na	Het;T>C	846;41|32	Hom;T>C	1860;0|62
N	N	-	17	48273464	48273464	T	C	snp	intronic	 	 	 	 	COL1A1	Col1a1	ENSG00000108821	collagen type I alpha 1 chain	chr17:48260650-48278993	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]	Fractures, Bone|Osteoporosis; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; lumbar disc disease; osteoporosis; Spinal Fractures; aortic stiffness; bone density; Intervertebral Disk Displacement; Periodontitis; osteoporosis, postmenopausal; estradiol; bone fractures; bone density; fractures; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; beta Thalassemia|beta-Thalassemia|Osteoporosis; Myopia; Bone Mineral Density; Osteogenesis imperfecta; Hepatitis B, Chronic|Liver Cirrhosis; bone density; muscle strength; bone mineral density; Degenerative arthropathy |Osteoarthritis; urinary incontinence; Neoplasms|Osteoporosis; bone cancer; otosclerosis; Hip Fractures|Osteoporosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Fractures, Bone|Osteoporosis|Spinal Fractures; Type 2 Diabetes| edema | rosiglitazone; osteogenesis Imperfecta; Body Weight|Colles' Fracture|Fractures, Spontaneous|Osteoporosis, Postmenopausal; Uterine Prolapse; Dwarfism, Pituitary; Osteoporosis, Postmenopausal; normal variation; oral submucous fibrosis; pregnancy loss, recurrent; bone density; fractures, vertebral; Myopia, Degenerative; Clubfoot; femoral neck geometry; Uterine Cervical Incompetence; periodontitis; Osteoporosis; Tobacco Use Disorder; Inflammation|Premature Birth; Fractures, Bone|Osteoporosis, Postmenopausal; Fractures, Bone; bone mass; mild osteogenesis imperfecta; null; Alzheimer's disease ; Osteoporosis|Spinal Fractures; hearing loss/deafness; osteogenesis imperfecta; smoking; hip dislocation, congenital; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; beta Thalassemia|beta-Thalassemia|Bone Diseases, Metabolic|Osteoporosis|Thalassemia; hearing impairment|Hearing Loss|Otosclerosis; achondroplasia; prevalent fractures; Premature Birth; osteoporosis; cirrhosis, primary biliary; betaCL osteocalcin; alcoholism; Fractures, Spontaneous|Osteoporosis, Postmenopausal|Spinal Fractures; Bone Diseases, Metabolic|Osteoporosis; bone density osteoporosis; Shoulder Dislocation|Soft Tissue Injuries; Coronary Artery Disease|Insulin Resistance|Myocardial Infarction; Hip Fractures; infertility, male; Infection|Inflammation|Premature Birth; Femoral Neck Fractures|Fractures, Stress; spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary|Osteoporosis; mild chondrodysplasia; preeclampsia; leukemia | bone mineral density; beta-Thalassemia|Osteoporosis; Osteoarthritis, Hip; osteoarthritis; bone loss; Breast cancer; Bone Diseases|Osteoporosis; plasma protein C levels; bone characteristics; Fractures, Spontaneous|Osteoporosis, Postmenopausal	Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection.	Collagen chain trimerization	GO:0001501;skeletal system development;IMP|GO:0001503;ossification;IEA|GO:0001568;blood vessel development;IMP|GO:0001649;osteoblast differentiation;IEA|GO:0001957;intramembranous ossification;IEA|GO:0001958;endochondral ossification;IEA|GO:0007584;response to nutrient;IEA|GO:0007596;blood coagulation;TAS|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0009612;response to mechanical stimulus;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010812;negative regulation of cell-substrate adhesion;IEA|GO:0015031;protein transport;IEA|GO:0030168;platelet activation;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032355;response to estradiol;IEA|GO:0032964;collagen biosynthetic process;IMP|GO:0034504;protein localization to nucleus;IDA|GO:0034505;tooth mineralization;IMP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0042060;wound healing;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043588;skin development;IEA|GO:0043589;skin morphogenesis;IMP|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0044691;tooth eruption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048545;response to steroid hormone;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IMP|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0051591;response to cAMP;IEA|GO:0055093;response to hyperoxia;IEA|GO:0060325;face morphogenesis;IEA|GO:0060346;bone trabecula formation;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0070208;protein heterotrimerization;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071306;cellular response to vitamin E;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:1902617;response to fluoride;IEA|GO:1902618;cellular response to fluoride;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005584;collagen type I trimer;IDA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0030141;secretory granule;IEA|GO:0031012;extracellular matrix;IDA	GO:0002020;protease binding;IPI|GO:0005201;extracellular matrix structural constituent;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL1A1	https://www.uniprot.org/uniprot/P02452	https://hpo.jax.org/app/browse/search?q=COL1A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120150	http://www.informatics.jax.org/searchtool/Search.do?query=COL1A1&submit=Quick%0D%3774ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL1A1	rs2141279	0.842452	0.8755	0	1	0	0	intronic	intronic	intronic	COL1A1	COL1A1	ENSG00000108821	Na	Na	Na	Na	Na	Na	Het;T>C	1008;40|41	Hom;T>C	2278;0|77
N	N	-	17	48452776	48452776	A	C	snp	nonsynonymous SNV	A207C	E69D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	EME1	Eme1	ENSG00000154920	essential meiotic structure-specific endonuclease 1	chr17:48450581-48458844	This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]	Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; breast cancer; Brain Neoplasms|Glioblastoma; Brain Neoplasms|Glioma; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	 	Fanconi Anemia Pathway	GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IBA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0031297;replication fork processing;IBA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0036297;interstrand cross-link repair;TAS|GO:0072429;response to intra-S DNA damage checkpoint signaling;IMP|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005720;nuclear heterochromatin;IEA|GO:0005730;nucleolus;IEA|GO:0048476;Holliday junction resolvase complex;IBA	GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004520;endodeoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0008821;crossover junction endodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EME1	https://www.uniprot.org/uniprot/Q96AY2		https://www.ncbi.nlm.nih.gov/omim/?term=610885	http://www.informatics.jax.org/searchtool/Search.do?query=EME1&submit=Quick%0D%9821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EME1	rs3760413	0.745407	0.9213	0.8180	0.08	1	13	exonic	exonic	exonic	EME1	EME1	ENSG00000154920	nonsynonymous SNV	nonsynonymous SNV	unknown	EME1:NM_001166131:exon2:c.A207C:p.E69D,EME1:NM_152463:exon2:c.A207C:p.E69D,	EME1:uc002iqs.2:exon2:c.A207C:p.E69D,EME1:uc010dbp.2:exon2:c.A207C:p.E69D,	UNKNOWN	Het;A>C	960;65|39	Hom;A>C	4263;1|145
N	N	-	17	48470462	48470462	A	C	snp	intronic	 	 	 	 	LRRC59	Lrrc59	ENSG00000108829	leucine rich repeat containing 59	chr17:48452420-48474914			 			GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0042645;mitochondrial nucleoid;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0003723;RNA binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRC59	https://www.uniprot.org/uniprot/Q96AG4		https://www.ncbi.nlm.nih.gov/omim/?term=614854	http://www.informatics.jax.org/searchtool/Search.do?query=LRRC59&submit=Quick%0D%3779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC59	rs917027	0.727037	0	0	1	0	0	intronic	intronic	intronic	LRRC59	LRRC59	ENSG00000108829	Na	Na	Na	Na	Na	Na	Het;A>C	40;3|2	Hom;A>C	123;0|4
N	N	-	17	48472270	48472270	C	T	snp	intronic	 	 	 	 	LRRC59	Lrrc59	ENSG00000108829	leucine rich repeat containing 59	chr17:48452420-48474914			 			GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0042645;mitochondrial nucleoid;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0003723;RNA binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRC59	https://www.uniprot.org/uniprot/Q96AG4		https://www.ncbi.nlm.nih.gov/omim/?term=614854	http://www.informatics.jax.org/searchtool/Search.do?query=LRRC59&submit=Quick%0D%3779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC59	rs3760407	0.725839	0.9036	0.8124	1	0	0	intronic	intronic	intronic	LRRC59	LRRC59	ENSG00000108829	Na	Na	Na	Na	Na	Na	Het;C>T	47;15|4	Hom;C>T	710;0|26
N	N	-	17	48539997	48539997	T	C	snp	intronic	 	 	 	 	ACSF2	Acsf2	ENSG00000167107	acyl-CoA synthetase family member 2	chr17:48503519-48552206		Acquired Immunodeficiency Syndrome|Disease Progression	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Mitochondrial Fatty Acid Beta-Oxidation	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSF2			https://www.ncbi.nlm.nih.gov/omim/?term=610465	http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2	rs8082089	0.55012	0.6451	0.5407	1	0	0	intronic	intronic	intronic	ACSF2	ACSF2	ENSG00000167107	Na	Na	Na	Na	Na	Na	Het;T>C	388;15|15	Hom;T>C	710;0|24
N	N	-	17	48540960	48540960	C	G	snp	intronic	 	 	 	 	ACSF2	Acsf2	ENSG00000167107	acyl-CoA synthetase family member 2	chr17:48503519-48552206		Acquired Immunodeficiency Syndrome|Disease Progression	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Mitochondrial Fatty Acid Beta-Oxidation	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSF2			https://www.ncbi.nlm.nih.gov/omim/?term=610465	http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2	rs3744522	0.548722	0.6456	0.5419	1	0	0	intronic	intronic	intronic	ACSF2	ACSF2	ENSG00000167107	Na	Na	Na	Na	Na	Na	Het;C>G	371;23|17	Hom;C>G	1034;0|35
N	N	-	17	48541707	48541707	G	A	snp	intronic	 	 	 	 	ACSF2	Acsf2	ENSG00000167107	acyl-CoA synthetase family member 2	chr17:48503519-48552206		Acquired Immunodeficiency Syndrome|Disease Progression	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Mitochondrial Fatty Acid Beta-Oxidation	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSF2			https://www.ncbi.nlm.nih.gov/omim/?term=610465	http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2	rs898455	0.548522	0.6518	0.5408	1	0	0	intronic	intronic	intronic	ACSF2	ACSF2	ENSG00000167107	Na	Na	Na	Na	Na	Na	Het;G>A	296;7|14	Hom;G>A	406;0|16
N	N	-	17	48542572	48542572	C	G	snp	intronic	 	 	 	 	ACSF2	Acsf2	ENSG00000167107	acyl-CoA synthetase family member 2	chr17:48503519-48552206		Acquired Immunodeficiency Syndrome|Disease Progression	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Mitochondrial Fatty Acid Beta-Oxidation	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSF2			https://www.ncbi.nlm.nih.gov/omim/?term=610465	http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2	rs898454	0.548522	0	0	1	0	0	intronic	intronic	intronic	ACSF2,CHAD	ACSF2,CHAD	ENSG00000136457,ENSG00000167107	Na	Na	Na	Na	Na	Na	Het;C>G	173;11|8	Hom;C>G	103;0|4
N	N	-	17	48629458	48629458	A	G	snp	nonsynonymous SNV	A1874G	K625R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SPATA20	Spata20	ENSG00000006282	spermatogenesis associated 20	chr17:48620419-48633213			Mice homozygous for a knock-out allele exhibit male infertility, small testes, severe oligoasthenoteratozoospermia, and abnormal manchette morphology during spermiogenesis resulting in impaired sperm head formation.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPATA20	https://www.uniprot.org/uniprot/Q8TB22		https://www.ncbi.nlm.nih.gov/omim/?term=613939	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA20&submit=Quick%0D%394ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA20	rs8065903	0.860623	0.8116	0.7864	0.08	1	13	exonic	exonic	exonic	SPATA20	SPATA20	ENSG00000006282	nonsynonymous SNV	nonsynonymous SNV	unknown	SPATA20:NM_022827:exon14:c.A1874G:p.K625R,SPATA20:NM_001258372:exon13:c.A1826G:p.K609R,SPATA20:NM_001258373:exon14:c.A1694G:p.K565R,	SPATA20:uc002ird.3:exon14:c.A1874G:p.K625R,SPATA20:uc002ire.3:exon14:c.A1694G:p.K565R,SPATA20:uc002irf.3:exon13:c.A1826G:p.K609R,SPATA20:uc002irc.3:exon15:c.A827G:p.K276R,	UNKNOWN	Het;A>G	1415;118|71	Hom;A>G	5171;1|197
N	N	-	17	48633738	48633738	T	C	snp	ncRNA_exonic	 	 	 	 	CACNA1G-AS1																		rs1460211	0.853834	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CACNA1G-AS1	CACNA1G-AS1	ENSG00000250107	Na	Na	Na	Na	Na	Na	Het;T>C	1084;57|50	Hom;T>C	2980;0|107
N	N	-	17	48634551	48634552	GA	G	indel	ncRNA_exonic	 	 	 	 	CACNA1G-AS1																		rs11286085	0.879792	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CACNA1G-AS1	CACNA1G-AS1	ENSG00000250107	Na	Na	Na	Na	Na	Na	Het;-A	1196;55|41	Hom;-A	3743;0|103
N	N	-	17	48680657	48680657	T	C	snp	intronic	 	 	 	 	CACNA1G	Cacna1g	ENSG00000006283	calcium voltage-gated channel subunit alpha1 G	chr17:48638429-48704835	Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]	Autism; epilepsy; Type 2 diabetes; Electrocardiography	Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.	NCAM1 interactions	GO:0001508;action potential;IEA|GO:0002027;regulation of heart rate;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010045;response to nickel cation;IEA|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;ISS|GO:0086010;membrane depolarization during action potential;IBA|GO:0086015;SA node cell action potential;ISS|GO:0086016;AV node cell action potential;ISS|GO:0086018;SA node cell to atrial cardiac muscle cell signalling;ISS|GO:0086027;AV node cell to bundle of His cell signaling;ISS|GO:0086045;membrane depolarization during AV node cell action potential;ISS|GO:0086046;membrane depolarization during SA node cell action potential;ISS|GO:0086091;regulation of heart rate by cardiac conduction;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;ISS|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;ISS|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1G	https://www.uniprot.org/uniprot/O43497	https://hpo.jax.org/app/browse/search?q=CACNA1G&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604065	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1G&submit=Quick%0D%395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1G	rs2158408	0.892772	0	0	1	0	0	intronic	intronic	intronic	CACNA1G	CACNA1G	ENSG00000006283	Na	Na	Na	Na	Na	Na	Het;T>C	124;4|5	Hom;T>C	353;0|11
N	N	-	17	48692881	48692881	C	T	snp	intronic	 	 	 	 	CACNA1G	Cacna1g	ENSG00000006283	calcium voltage-gated channel subunit alpha1 G	chr17:48638429-48704835	Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]	Autism; epilepsy; Type 2 diabetes; Electrocardiography	Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.	NCAM1 interactions	GO:0001508;action potential;IEA|GO:0002027;regulation of heart rate;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010045;response to nickel cation;IEA|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;ISS|GO:0086010;membrane depolarization during action potential;IBA|GO:0086015;SA node cell action potential;ISS|GO:0086016;AV node cell action potential;ISS|GO:0086018;SA node cell to atrial cardiac muscle cell signalling;ISS|GO:0086027;AV node cell to bundle of His cell signaling;ISS|GO:0086045;membrane depolarization during AV node cell action potential;ISS|GO:0086046;membrane depolarization during SA node cell action potential;ISS|GO:0086091;regulation of heart rate by cardiac conduction;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;ISS|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;ISS|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1G	https://www.uniprot.org/uniprot/O43497	https://hpo.jax.org/app/browse/search?q=CACNA1G&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604065	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1G&submit=Quick%0D%395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1G	rs8066527	0.20008	0.3086	0.2842	1	0	0	intronic	intronic	intronic	CACNA1G	CACNA1G	ENSG00000006283	Na	Na	Na	Na	Na	Na	Het;C>T	836;42|41	Hom;C>T	2080;0|76
N	N	-	17	48693760	48693760	G	C	snp	intronic	 	 	 	 	CACNA1G	Cacna1g	ENSG00000006283	calcium voltage-gated channel subunit alpha1 G	chr17:48638429-48704835	Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]	Autism; epilepsy; Type 2 diabetes; Electrocardiography	Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.	NCAM1 interactions	GO:0001508;action potential;IEA|GO:0002027;regulation of heart rate;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010045;response to nickel cation;IEA|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;ISS|GO:0086010;membrane depolarization during action potential;IBA|GO:0086015;SA node cell action potential;ISS|GO:0086016;AV node cell action potential;ISS|GO:0086018;SA node cell to atrial cardiac muscle cell signalling;ISS|GO:0086027;AV node cell to bundle of His cell signaling;ISS|GO:0086045;membrane depolarization during AV node cell action potential;ISS|GO:0086046;membrane depolarization during SA node cell action potential;ISS|GO:0086091;regulation of heart rate by cardiac conduction;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;ISS|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;ISS|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1G	https://www.uniprot.org/uniprot/O43497	https://hpo.jax.org/app/browse/search?q=CACNA1G&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604065	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1G&submit=Quick%0D%395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1G	rs4794171	0.211462	0.3596	0.3403	1	0	0	intronic	intronic	intronic	CACNA1G	CACNA1G	ENSG00000006283	Na	Na	Na	Na	Na	Na	Het;G>C	956;64|49	Hom;G>C	2795;0|108
N	N	-	17	48698906	48698906	C	A	snp	intronic	 	 	 	 	CACNA1G	Cacna1g	ENSG00000006283	calcium voltage-gated channel subunit alpha1 G	chr17:48638429-48704835	Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]	Autism; epilepsy; Type 2 diabetes; Electrocardiography	Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.	NCAM1 interactions	GO:0001508;action potential;IEA|GO:0002027;regulation of heart rate;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010045;response to nickel cation;IEA|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;ISS|GO:0086010;membrane depolarization during action potential;IBA|GO:0086015;SA node cell action potential;ISS|GO:0086016;AV node cell action potential;ISS|GO:0086018;SA node cell to atrial cardiac muscle cell signalling;ISS|GO:0086027;AV node cell to bundle of His cell signaling;ISS|GO:0086045;membrane depolarization during AV node cell action potential;ISS|GO:0086046;membrane depolarization during SA node cell action potential;ISS|GO:0086091;regulation of heart rate by cardiac conduction;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;ISS|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;ISS|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1G	https://www.uniprot.org/uniprot/O43497	https://hpo.jax.org/app/browse/search?q=CACNA1G&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604065	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1G&submit=Quick%0D%395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1G	rs4794172	0.19389	0	0	1	0	0	intronic	intronic	intronic	CACNA1G	CACNA1G	ENSG00000006283	Na	Na	Na	Na	Na	Na	Het;C>A	89;5|4	Hom;C>A	163;0|6
N	N	-	17	48703752	48703752	T	C	snp	synonymous SNV	T6606C	P2202P	hydrophobic,neutral	hydrophobic,neutral	CACNA1G	Cacna1g	ENSG00000006283	calcium voltage-gated channel subunit alpha1 G	chr17:48638429-48704835	Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]	Autism; epilepsy; Type 2 diabetes; Electrocardiography	Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.	NCAM1 interactions	GO:0001508;action potential;IEA|GO:0002027;regulation of heart rate;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010045;response to nickel cation;IEA|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;ISS|GO:0086010;membrane depolarization during action potential;IBA|GO:0086015;SA node cell action potential;ISS|GO:0086016;AV node cell action potential;ISS|GO:0086018;SA node cell to atrial cardiac muscle cell signalling;ISS|GO:0086027;AV node cell to bundle of His cell signaling;ISS|GO:0086045;membrane depolarization during AV node cell action potential;ISS|GO:0086046;membrane depolarization during SA node cell action potential;ISS|GO:0086091;regulation of heart rate by cardiac conduction;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;ISS|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;ISS|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1G	https://www.uniprot.org/uniprot/O43497	https://hpo.jax.org/app/browse/search?q=CACNA1G&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604065	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1G&submit=Quick%0D%395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1G	rs739925	0.367212	0.4572	0.4165	1	0	0	exonic	exonic	exonic	CACNA1G	CACNA1G	ENSG00000006283	synonymous SNV	synonymous SNV	unknown	CACNA1G:NM_198396:exon36:c.T6672C:p.P2224P,CACNA1G:NM_001256329:exon36:c.T6393C:p.P2131P,CACNA1G:NM_001256330:exon35:c.T6360C:p.P2120P,CACNA1G:NM_198376:exon35:c.T6156C:p.P2052P,CACNA1G:NM_198380:exon36:c.T6606C:p.P2202P,CACNA1G:NM_198377:exon37:c.T6741C:p.P2247P,CACNA1G:NM_198378:exon35:c.T6462C:p.P2154P,CACNA1G:NM_018896:exon38:c.T6774C:p.P2258P,CACNA1G:NM_198379:exon35:c.T6537C:p.P2179P,CACNA1G:NM_198385:exon37:c.T6639C:p.P2213P,CACNA1G:NM_001256361:exon35:c.T6381C:p.P2127P,CACNA1G:NM_001256333:exon37:c.T6258C:p.P2086P,CACNA1G:NM_198384:exon36:c.T6495C:p.P2165P,CACNA1G:NM_001256360:exon35:c.T6387C:p.P2129P,CACNA1G:NM_001256359:exon36:c.T6414C:p.P2138P,CACNA1G:NM_198382:exon35:c.T6426C:p.P2142P,CACNA1G:NM_001256328:exon35:c.T6420C:p.P2140P,CACNA1G:NM_001256324:exon36:c.T6585C:p.P2195P,CACNA1G:NM_001256331:exon35:c.T6339C:p.P2113P,CACNA1G:NM_001256326:exon36:c.T6504C:p.P2168P,CACNA1G:NM_001256332:exon35:c.T6324C:p.P2108P,CACNA1G:NM_198383:exon36:c.T6561C:p.P2187P,CACNA1G:NM_198387:exon34:c.T6393C:p.P2131P,CACNA1G:NM_001256325:exon36:c.T6516C:p.P2172P,CACNA1G:NM_198386:exon35:c.T6441C:p.P2147P,CACNA1G:NM_001256327:exon36:c.T6474C:p.P2158P,CACNA1G:NM_001256334:exon36:c.T6225C:p.P2075P,CACNA1G:NM_198388:exon34:c.T6372C:p.P2124P,	CACNA1G:uc002irs.2:exon36:c.T6606C:p.P2202P,CACNA1G:uc002irz.2:exon36:c.T6474C:p.P2158P,CACNA1G:uc002isc.2:exon37:c.T6741C:p.P2247P,CACNA1G:uc002iry.2:exon36:c.T6225C:p.P2075P,CACNA1G:uc002irl.2:exon35:c.T6426C:p.P2142P,CACNA1G:uc002irm.2:exon35:c.T6537C:p.P2179P,CACNA1G:uc002irt.2:exon35:c.T6441C:p.P2147P,CACNA1G:uc002irw.2:exon36:c.T6561C:p.P2187P,CACNA1G:uc002isd.2:exon35:c.T6420C:p.P2140P,CACNA1G:uc002irk.2:exon38:c.T6774C:p.P2258P,CACNA1G:uc002isa.2:exon36:c.T6393C:p.P2131P,CACNA1G:uc002iro.2:exon34:c.T6393C:p.P2131P,CACNA1G:uc002irp.2:exon37:c.T6639C:p.P2213P,CACNA1G:uc002irr.2:exon36:c.T6495C:p.P2165P,CACNA1G:uc002isi.2:exon35:c.T6324C:p.P2108P,CACNA1G:uc002irx.2:exon37:c.T6258C:p.P2086P,CACNA1G:uc002irj.2:exon35:c.T6156C:p.P2052P,CACNA1G:uc002isg.2:exon35:c.T6339C:p.P2113P,CACNA1G:uc002isf.2:exon36:c.T6585C:p.P2195P,CACNA1G:uc002ish.2:exon35:c.T6360C:p.P2120P,CACNA1G:uc002iru.2:exon36:c.T6672C:p.P2224P,CACNA1G:uc002ise.2:exon36:c.T6504C:p.P2168P,CACNA1G:uc002irv.2:exon35:c.T6462C:p.P2154P,CACNA1G:uc002isb.2:exon36:c.T6516C:p.P2172P,CACNA1G:uc002irn.2:exon34:c.T6372C:p.P2124P,	UNKNOWN	Het;T>C	1099;76|52	Hom;T>C	3577;0|124
N	N	-	17	48704800	48704800	A	C	snp	UTR3	*688A>C	 	 	 	CACNA1G	Cacna1g	ENSG00000006283	calcium voltage-gated channel subunit alpha1 G	chr17:48638429-48704835	Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]	Autism; epilepsy; Type 2 diabetes; Electrocardiography	Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.	NCAM1 interactions	GO:0001508;action potential;IEA|GO:0002027;regulation of heart rate;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010045;response to nickel cation;IEA|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;ISS|GO:0086010;membrane depolarization during action potential;IBA|GO:0086015;SA node cell action potential;ISS|GO:0086016;AV node cell action potential;ISS|GO:0086018;SA node cell to atrial cardiac muscle cell signalling;ISS|GO:0086027;AV node cell to bundle of His cell signaling;ISS|GO:0086045;membrane depolarization during AV node cell action potential;ISS|GO:0086046;membrane depolarization during SA node cell action potential;ISS|GO:0086091;regulation of heart rate by cardiac conduction;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;ISS|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;ISS|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1G	https://www.uniprot.org/uniprot/O43497	https://hpo.jax.org/app/browse/search?q=CACNA1G&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604065	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1G&submit=Quick%0D%395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1G	rs34036927	0.134784	0	0.3095	1	0	0	UTR3	UTR3	ncRNA_intronic	CACNA1G(NM_198380:c.*688A>C,NM_198379:c.*688A>C,NM_001256327:c.*688A>C,NM_198376:c.*688A>C,NM_001256326:c.*688A>C,NM_198378:c.*688A>C,NM_001256329:c.*688A>C,NM_001256325:c.*688A>C,NM_001256324:c.*688A>C,NM_198396:c.*688A>C,NM_001256359:c.*688A>C,NM_001256333:c.*688A>C,NM_198388:c.*688A>C,NM_198387:c.*688A>C,NM_198386:c.*688A>C,NM_001256328:c.*688A>C,NM_198385:c.*688A>C,NM_198384:c.*688A>C,NM_198383:c.*688A>C,NM_001256361:c.*688A>C,NM_001256330:c.*688A>C,NM_001256334:c.*688A>C,NM_198382:c.*688A>C,NM_198377:c.*688A>C,NM_001256360:c.*688A>C,NM_001256332:c.*688A>C,NM_001256331:c.*688A>C,NM_018896:c.*688A>C)	CACNA1G(uc002irk.2:c.*688A>C,uc002iry.2:c.*688A>C,uc002irs.2:c.*688A>C,uc002irv.2:c.*688A>C,uc002isa.2:c.*688A>C,uc002ise.2:c.*688A>C,uc002irt.2:c.*688A>C,uc002iru.2:c.*688A>C,uc002irx.2:c.*688A>C,uc002isg.2:c.*688A>C,uc002irw.2:c.*688A>C,uc002irj.2:c.*688A>C,uc002irl.2:c.*688A>C,uc002irm.2:c.*688A>C,uc002ish.2:c.*688A>C,uc002irp.2:c.*688A>C,uc002isi.2:c.*688A>C,uc002irn.2:c.*688A>C,uc002iro.2:c.*688A>C,uc002irz.2:c.*688A>C,uc002irr.2:c.*688A>C,uc002isb.2:c.*688A>C,uc002isc.2:c.*688A>C,uc002isf.2:c.*688A>C,uc002isd.2:c.*688A>C)	ENSG00000251239	Na	Na	Na	Na	Na	Na	Het;A>C	819;33|38	Hom;A>C	1798;0|66
N	N	-	17	48735774	48735774	G	A	snp	intronic	 	 	 	 	ABCC3	Abcc3	ENSG00000108846	ATP binding cassette subfamily C member 3	chr17:48712138-48769613	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; lung cancer ; Adenocarcinoma|Pancreatic Neoplasms; Socioeconomic Factors; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Leukemia, Myeloid, Acute; colorectal cancer; null; lung cancer; esophageal adenocarcinoma; drug-related genes 	Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IBA|GO:0015721;bile acid and bile salt transport;TAS|GO:0042908;xenobiotic transport;IBA|GO:0055085;transmembrane transport;TAS|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IBA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;TAS|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0008559;xenobiotic-transporting ATPase activity;IBA|GO:0015432;bile acid-exporting ATPase activity;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC3	https://www.uniprot.org/uniprot/O15438		https://www.ncbi.nlm.nih.gov/omim/?term=604323	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC3&submit=Quick%0D%3783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC3	rs739923	0.314896	0.2646	0.2906	1	0	0	intronic	intronic	intronic	ABCC3	ABCC3	ENSG00000108846	Na	Na	Na	Na	Na	Na	Het;G>A	107;13|8	Hom;G>A	913;2|38
N	N	-	17	48874895	48874895	A	G	snp	ncRNA_exonic	 	 	 	 	AC005921.1																		rs9807047	0.28734	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR8059(dist=28804),WFIKKN2(dist=37710)	LINC00483(dist=30016),WFIKKN2(dist=37116)	ENSG00000248702	Na	Na	Na	Na	Na	Na	Het;A>G	122;4|6	Hom;A>G	569;0|21
N	N	-	17	49415373	49415373	C	A	snp	ncRNA_intronic	 	 	 	 	AK124832																		rs62060120	0.246805	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC440446	AK124832	ENSG00000225860	Na	Na	Na	Na	Na	Na	Het;C>A	86;2|5	Hom;C>A	90;0|4
N	N	-	17	49713428	49713432	GACAT	G	indel	intronic	 	 	 	 	CA10	Car10	ENSG00000154975	carbonic anhydrase 10	chr17:49707674-50237377	This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	Hip; Cholesterol; Conduct Disorder; Tobacco Use Disorder; Stroke; Obesity; Heart Rate; C-Reactive Protein; Carotid Arteries; Osteoporosis; Creatinine; Body Mass Index; Myocardial Infarction; Uric Acid; Echocardiography; Celiac Disease|	 		GO:0007420;brain development;NAS	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/CA10	https://www.uniprot.org/uniprot/Q9NS85		https://www.ncbi.nlm.nih.gov/omim/?term=604642	http://www.informatics.jax.org/searchtool/Search.do?query=CA10&submit=Quick%0D%9826ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CA10	rs139939914	0.442492	0	0	1	0	0	intronic	intronic	intronic	CA10	CA10	ENSG00000154975	Na	Na	Na	Na	Na	Na	Het;-ACAT	1675;38|45	Hom;-ACAT	2003;0|46
N	N	-	17	51512315	51512315	T	C	snp	ncRNA_exonic	 	 	 	 	AC090079.1																		rs9914240	0.445687	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C17orf112(dist=447303),KIF2B(dist=387924)	C17orf112(dist=447303),KIF2B(dist=387924)	ENSG00000262271	Na	Na	Na	Na	Na	Na	Het;T>C	35;2|2	Hom;T>C	387;0|13
N	N	-	17	51512646	51512646	C	T	snp	ncRNA_exonic	 	 	 	 	AC090079.1																		rs79328321	0.178514	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C17orf112(dist=447634),KIF2B(dist=387593)	C17orf112(dist=447634),KIF2B(dist=387593)	ENSG00000262271	Na	Na	Na	Na	Na	Na	Het;C>T	79;4|5	Hom;C>T	309;0|12
N	N	-	17	51514775	51514775	T	G	snp	intergenic	 	 	 	 	AC090079.1																		rs1502501	0.707668	0	0	1	0	0	intergenic	intergenic	intergenic	C17orf112(dist=449763),KIF2B(dist=385464)	C17orf112(dist=449763),KIF2B(dist=385464)	ENSG00000262271(dist=1585),ENSG00000262518(dist=1142)	Na	Na	Na	Na	Na	Na	Het;T>G	85;3|4	Hom;T>G	203;0|8
N	N	-	17	5268356	5268357	TA	T	indel	ncRNA_intronic	 	 	 	 	Nup88																		rs398030223	0.501597	0	0	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	RABEP1	Nup88	ENSG00000263220	Na	Na	Na	Na	Na	Na	Het;-A	169;4|12	Hom;-A	289;0|15
N	N	-	17	5276934	5276934	G	C	snp	ncRNA_intronic	 	 	 	 	Nup88																		rs2523156	0.799521	0	0	1	0	0	intronic	ncRNA_intronic	intronic	RABEP1	Nup88	ENSG00000029725,ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;G>C	45;2|2	Hom;G>C	130;0|4
N	N	-	17	5284480	5284480	T	C	snp	ncRNA_intronic	 	 	 	 	Nup88																		rs3026109	0.552316	0	0	1	0	0	intronic	ncRNA_intronic	intronic	RABEP1	Nup88	ENSG00000029725,ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;T>C	40;3|3	Hom;T>C	219;0|10
N	N	-	17	5284543	5284545	TAA	T	indel	ncRNA_intronic	 	 	 	 	Nup88																		rs56804522	0.552316	0	0	1	0	0	intronic	ncRNA_intronic	intronic	RABEP1	Nup88	ENSG00000029725,ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;-AA	125;2|4	Hom;-AA	177;0|5
N	N	-	17	5284698	5284698	A	G	snp	synonymous SNV	A2256G	Q752Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RABEP1	Rabep1	ENSG00000029725	rabaptin, RAB GTPase binding effector protein 1	chr17:5185558-5289129			 	TBC/RABGAPs	GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IMP|GO:0055037;recycling endosome;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RABEP1	https://www.uniprot.org/uniprot/Q15276		https://www.ncbi.nlm.nih.gov/omim/?term=603616	http://www.informatics.jax.org/searchtool/Search.do?query=RABEP1&submit=Quick%0D%734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABEP1	rs1143206	0.552117	0.3975	0.4738	1	0	0	exonic	exonic	exonic	RABEP1	RABEP1	ENSG00000029725	synonymous SNV	synonymous SNV	unknown	RABEP1:NM_004703:exon17:c.A2385G:p.Q795Q,RABEP1:NM_001291581:exon16:c.A2256G:p.Q752Q,RABEP1:NM_001083585:exon16:c.A2286G:p.Q762Q,	RABEP1:uc010vsw.1:exon16:c.A2256G:p.Q752Q,RABEP1:uc002gbm.4:exon17:c.A2385G:p.Q795Q,RABEP1:uc002gbl.4:exon16:c.A2286G:p.Q762Q,	UNKNOWN	Het;A>G	859;49|38	Hom;A>G	2277;0|81
N	N	-	17	5284719	5284719	T	C	snp	synonymous SNV	T2277C	N759N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RABEP1	Rabep1	ENSG00000029725	rabaptin, RAB GTPase binding effector protein 1	chr17:5185558-5289129			 	TBC/RABGAPs	GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IMP|GO:0055037;recycling endosome;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RABEP1	https://www.uniprot.org/uniprot/Q15276		https://www.ncbi.nlm.nih.gov/omim/?term=603616	http://www.informatics.jax.org/searchtool/Search.do?query=RABEP1&submit=Quick%0D%734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABEP1	rs1065482	0.552117	0.3975	0.4737	1	0	0	exonic	exonic	exonic	RABEP1	RABEP1	ENSG00000029725	synonymous SNV	synonymous SNV	unknown	RABEP1:NM_004703:exon17:c.T2406C:p.N802N,RABEP1:NM_001291581:exon16:c.T2277C:p.N759N,RABEP1:NM_001083585:exon16:c.T2307C:p.N769N,	RABEP1:uc010vsw.1:exon16:c.T2277C:p.N759N,RABEP1:uc002gbm.4:exon17:c.T2406C:p.N802N,RABEP1:uc002gbl.4:exon16:c.T2307C:p.N769N,	UNKNOWN	Het;T>C	897;61|44	Hom;T>C	2742;0|101
N	N	-	17	5284770	5284770	G	A	snp	synonymous SNV	G2328A	R776R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	RABEP1	Rabep1	ENSG00000029725	rabaptin, RAB GTPase binding effector protein 1	chr17:5185558-5289129			 	TBC/RABGAPs	GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IMP|GO:0055037;recycling endosome;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RABEP1	https://www.uniprot.org/uniprot/Q15276		https://www.ncbi.nlm.nih.gov/omim/?term=603616	http://www.informatics.jax.org/searchtool/Search.do?query=RABEP1&submit=Quick%0D%734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABEP1	rs1065483	0.677516	0.4664	0.5331	1	0	0	exonic	exonic	exonic	RABEP1	RABEP1	ENSG00000029725	synonymous SNV	synonymous SNV	unknown	RABEP1:NM_004703:exon17:c.G2457A:p.R819R,RABEP1:NM_001291581:exon16:c.G2328A:p.R776R,RABEP1:NM_001083585:exon16:c.G2358A:p.R786R,	RABEP1:uc010vsw.1:exon16:c.G2328A:p.R776R,RABEP1:uc002gbm.4:exon17:c.G2457A:p.R819R,RABEP1:uc002gbl.4:exon16:c.G2358A:p.R786R,	UNKNOWN	Het;G>A	1152;79|56	Hom;G>A	3400;0|130
N	N	-	17	5289580	5289580	A	G	snp	synonymous SNV	T2220C	H740H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs11209	0.576478	0.4204	0.4690	1	0	0	exonic	exonic	exonic	NUP88	NUP88	ENSG00000108559	synonymous SNV	synonymous SNV	unknown	NUP88:NM_002532:exon17:c.T2172C:p.H724H,	NUP88:uc010vsx.2:exon17:c.T2220C:p.H740H,NUP88:uc002gbo.2:exon17:c.T2172C:p.H724H,	UNKNOWN	Het;A>G	809;51|42	Hom;A>G	1438;0|53
N	N	-	17	5289676	5289676	C	T	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs1806222	0.552316	0	0	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;C>T	302;11|13	Hom;C>T	423;0|15
N	N	-	17	5290033	5290033	T	C	snp	synonymous SNV	A2205G	K735K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs1071705	0.552716	0.4030	0.4736	1	0	0	exonic	exonic	exonic	NUP88	NUP88	ENSG00000108559	synonymous SNV	synonymous SNV	unknown	NUP88:NM_002532:exon16:c.A2157G:p.K719K,	NUP88:uc010vsx.2:exon16:c.A2205G:p.K735K,NUP88:uc002gbo.2:exon16:c.A2157G:p.K719K,	UNKNOWN	Het;T>C	1107;55|51	Hom;T>C	3584;0|135
N	N	-	17	5290681	5290681	A	C	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs739767	0.552316	0.4010	0.4735	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;A>C	320;13|15	Hom;A>C	377;0|17
N	N	-	17	5290703	5290703	G	A	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs739768	0.552316	0.4023	0.4733	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;G>A	513;22|26	Hom;G>A	835;0|32
N	N	-	17	5290824	5290824	C	A	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs748486	0.552516	0.4024	0.4735	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;C>A	540;17|23	Hom;C>A	1046;0|38
N	N	-	17	5291276	5291280	AAAAT	A	indel	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs142820374	0.552716	0.3934	0.4900	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;-AAAT	815;52|24	Hom;-AAAT	2659;0|61
N	N	-	17	5294976	5294976	T	A	snp	synonymous SNV	A1386T	P462P	hydrophobic,neutral	hydrophobic,neutral	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs14231	0.552316	0.4026	0.4749	1	0	0	exonic	exonic	exonic	NUP88	NUP88	ENSG00000108559	synonymous SNV	synonymous SNV	unknown	NUP88:NM_002532:exon10:c.A1389T:p.P463P,	NUP88:uc010cle.2:exon10:c.A1386T:p.P462P,NUP88:uc010vsy.2:exon10:c.A1389T:p.P463P,NUP88:uc010vsx.2:exon10:c.A1389T:p.P463P,NUP88:uc002gbo.2:exon10:c.A1389T:p.P463P,	UNKNOWN	Het;T>A	958;65|51	Hom;T>A	2516;0|95
N	N	-	17	5298320	5298320	C	T	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs1806240	0.552117	0.4027	0.4748	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;C>T	497;16|23	Hom;C>T	1238;0|45
N	N	-	17	5298396	5298396	G	A	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs2309372	0.552117	0	0	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;G>A	128;3|5	Hom;G>A	165;0|6
N	N	-	17	53076799	53076799	G	A	snp	nonsynonymous SNV	G274A	G92R	aliphatic,neutral	polar,hydrophilic,charged(+)	STXBP4	Stxbp4	ENSG00000166263	syntaxin binding protein 4	chr17:53046088-53241646		Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases	 		GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP4			https://www.ncbi.nlm.nih.gov/omim/?term=610415	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4	rs1156287	0.852436	0.7809	0.7803	0.15	2	13	exonic	exonic	exonic	STXBP4	STXBP4	ENSG00000166263	nonsynonymous SNV	nonsynonymous SNV	unknown	STXBP4:NM_178509:exon5:c.G274A:p.G92R,	STXBP4:uc010dcc.1:exon4:c.G43A:p.G15R,STXBP4:uc002iuf.1:exon5:c.G274A:p.G92R,STXBP4:uc010dcd.1:exon5:c.G274A:p.G92R,	UNKNOWN	Het;G>A	1334;51|62	Hom;G>A	2851;0|106
N	N	-	17	53076986	53076986	G	A	snp	splicing	57-1G>A	 	 	 	STXBP4	Stxbp4	ENSG00000166263	syntaxin binding protein 4	chr17:53046088-53241646		Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases	 		GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP4			https://www.ncbi.nlm.nih.gov/omim/?term=610415	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4	rs11658717	0.771366	0.6926	0.7559	0.25	1	4	intronic	splicing	splicing	STXBP4	STXBP4(uc010dcc.1:exon5:c.57-1G>A)	ENSG00000166263(ENST00000299341:exon6:c.57-1G>A,ENST00000398391:exon5:c.57-1G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	990;31|39	Hom;G>A	1416;0|50
N	N	-	17	5308603	5308603	G	A	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs3026133	0.781949	0.6128	0.6197	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;G>A	387;18|17	Hom;G>A	1055;0|35
N	N	-	17	5312271	5312271	A	G	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs929262	0.552316	0.4031	0.4781	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;A>G	320;9|11	Hom;A>G	475;0|17
N	N	-	17	5320044	5320044	T	A	snp	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs1806265	0.579473	0.4246	0.4809	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;T>A	682;25|32	Hom;T>A	2353;0|78
N	N	-	17	5320082	5320082	C	CT	indel	intronic	 	 	 	 	NUP88	Nup88	ENSG00000108559	nucleoporin 88	chr17:5264258-5323480	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		 	tRNA processing in the nucleus	GO:0000055;ribosomal large subunit export from nucleus;IBA|GO:0000056;ribosomal small subunit export from nucleus;IBA|GO:0000278;mitotic cell cycle;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NUP88	https://www.uniprot.org/uniprot/Q99567	https://hpo.jax.org/app/browse/search?q=NUP88&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602552	http://www.informatics.jax.org/searchtool/Search.do?query=NUP88&submit=Quick%0D%3734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP88	rs35036161	0.59385	0	0	1	0	0	intronic	intronic	intronic	NUP88	NUP88	ENSG00000108559	Na	Na	Na	Na	Na	Na	Het;+T	269;12|11	Hom;+T	937;0|29
N	N	-	17	5323125	5323125	C	A	snp	UTR5	-406C>A	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs1058119	0.571486	0	0	1	0	0	UTR5	UTR5	UTR5	RPAIN(NM_001160266:c.-406C>A,NM_001160243:c.-406C>A,NM_001160244:c.-406C>A,NM_001160246:c.-406C>A,NM_001033002:c.-406C>A)	RPAIN(uc010vsz.1:c.-406C>A,uc002gbp.1:c.-246C>A,uc002gbq.2:c.-406C>A,uc010vtb.1:c.-406C>A,uc002gbs.2:c.-246C>A,uc002gbt.2:c.-406C>A,uc002gbu.2:c.-246C>A,uc002gbw.2:c.-406C>A)	ENSG00000108559(ENST00000573584:c.-155G>T),ENSG00000129197(ENST00000381208:c.-406C>A,ENST00000539417:c.-406C>A,ENST00000381209:c.-406C>A,ENST00000575599:c.-406C>A,ENST00000571558:c.-406C>A,ENST00000573577:c.-406C>A,ENST00000536255:c.-406C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	1224;57|56	Hom;C>A	3187;0|118
N	N	-	17	5323206	5323206	T	G	snp	UTR5	-325T>G	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs1058117	0.572085	0	0	1	0	0	UTR5	UTR5	UTR5	RPAIN(NM_001160266:c.-325T>G,NM_001160243:c.-325T>G,NM_001160244:c.-325T>G,NM_001160246:c.-325T>G,NM_001033002:c.-325T>G)	RPAIN(uc010vsz.1:c.-325T>G,uc002gbp.1:c.-165T>G,uc002gbq.2:c.-325T>G,uc010vtb.1:c.-325T>G,uc002gbs.2:c.-165T>G,uc002gbt.2:c.-325T>G,uc002gbu.2:c.-165T>G,uc002gbw.2:c.-325T>G)	ENSG00000108559(ENST00000573584:c.-236A>C),ENSG00000129197(ENST00000381208:c.-325T>G,ENST00000539417:c.-325T>G,ENST00000381209:c.-325T>G,ENST00000575599:c.-325T>G,ENST00000571558:c.-325T>G,ENST00000573577:c.-325T>G,ENST00000536255:c.-325T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	1402;61|64	Hom;T>G	3481;1|125
N	N	-	17	5323269	5323269	C	T	snp	UTR5	-262C>T	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs1058115	0.571486	0	0	1	0	0	UTR5	UTR5	UTR5	RPAIN(NM_001160266:c.-262C>T,NM_001160243:c.-262C>T,NM_001160244:c.-262C>T,NM_001160246:c.-262C>T,NM_001033002:c.-262C>T)	RPAIN(uc010vsz.1:c.-262C>T,uc002gbp.1:c.-102C>T,uc002gbq.2:c.-262C>T,uc010vtb.1:c.-262C>T,uc002gbs.2:c.-102C>T,uc002gbt.2:c.-262C>T,uc002gbu.2:c.-102C>T,uc002gbw.2:c.-262C>T)	ENSG00000108559(ENST00000573584:c.-299G>A),ENSG00000129197(ENST00000381208:c.-262C>T,ENST00000539417:c.-262C>T,ENST00000381209:c.-262C>T,ENST00000575599:c.-262C>T,ENST00000571558:c.-262C>T,ENST00000573577:c.-262C>T,ENST00000536255:c.-262C>T,ENST00000327154:c.-262C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	984;54|41	Hom;C>T	3037;1|105
N	N	-	17	5323631	5323631	A	G	snp	intronic	 	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs9908179	0.573882	0.3496	0.4730	1	0	0	intronic	intronic	intronic	RPAIN	RPAIN	ENSG00000129197	Na	Na	Na	Na	Na	Na	Het;A>G	927;28|39	Hom;A>G	1882;0|60
N	N	-	17	5324588	5324588	C	T	snp	intronic	 	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs4444392	0.436502	0.1552	0.3177	1	0	0	intronic	intronic	intronic	RPAIN	RPAIN	ENSG00000129197	Na	Na	Na	Na	Na	Na	Het;C>T	198;19|12	Hom;C>T	377;1|16
N	N	-	17	5324836	5324836	C	T	snp	intronic	 	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs9303192	0.438498	0.2495	0.3657	1	0	0	intronic	intronic	intronic	RPAIN	RPAIN	ENSG00000129197	Na	Na	Na	Na	Na	Na	Het;C>T	459;7|21	Hom;C>T	910;1|34
N	N	-	17	5324893	5324893	A	C	snp	intronic	 	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs4790770	0.438498	0	0	1	0	0	intronic	intronic	intronic	RPAIN	RPAIN	ENSG00000129197	Na	Na	Na	Na	Na	Na	Het;A>C	77;1|3	Hom;A>C	288;0|8
N	N	-	17	5326089	5326089	C	T	snp	nonsynonymous SNV	C413T	A138V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs1071648	0.445887	0.2559	0.3654	1	0	0	exonic	exonic	exonic	RPAIN	RPAIN	ENSG00000129197	synonymous SNV	nonsynonymous SNV	unknown	RPAIN:NM_001033002:exon3:c.C253T:p.L85L,RPAIN:NM_001160244:exon3:c.C253T:p.L85L,RPAIN:NM_001160246:exon3:c.C253T:p.L85L,RPAIN:NM_001160243:exon3:c.C253T:p.L85L,RPAIN:NM_001160266:exon3:c.C253T:p.L85L,	RPAIN:uc002gbu.2:exon3:c.C413T:p.A138V,RPAIN:uc002gbp.1:exon3:c.C413T:p.A138V,RPAIN:uc002gbs.2:exon3:c.C413T:p.A138V,	UNKNOWN	Het;C>T	192;21|13	Hom;C>T	751;0|28
N	N	-	17	5326145	5326145	C	G	snp	nonsynonymous SNV	C309G	N103K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs12761	0.446086	0.2560	0.3651	0.08	1	12	exonic	exonic	exonic	RPAIN	RPAIN	ENSG00000129197	nonsynonymous SNV	nonsynonymous SNV	unknown	RPAIN:NM_001033002:exon3:c.C309G:p.N103K,RPAIN:NM_001160244:exon3:c.C309G:p.N103K,RPAIN:NM_001160246:exon3:c.C309G:p.N103K,RPAIN:NM_001160243:exon3:c.C309G:p.N103K,RPAIN:NM_001160266:exon3:c.C309G:p.N103K,	RPAIN:uc002gbu.2:exon3:c.C469G:p.P157A,RPAIN:uc002gbp.1:exon3:c.C469G:p.P157A,RPAIN:uc002gbs.2:exon3:c.C469G:p.P157A,RPAIN:uc002gbt.2:exon3:c.C309G:p.N103K,RPAIN:uc010vtb.1:exon3:c.C309G:p.N103K,RPAIN:uc010vsz.1:exon3:c.C309G:p.N103K,RPAIN:uc002gbw.2:exon3:c.C309G:p.N103K,RPAIN:uc002gbq.2:exon3:c.C309G:p.N103K,	UNKNOWN	Het;C>G	554;22|16	Hom;C>G	1311;0|32
N	N	-	17	5326162	5326162	G	A	snp	intronic	 	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs2189336	0.778754	0.6057	0.6134	1	0	0	intronic	intronic	intronic	RPAIN	RPAIN	ENSG00000129197	Na	Na	Na	Na	Na	Na	Het;G>A	506;17|14	Hom;G>A	1232;0|28
N	N	-	17	5326178	5326178	C	T	snp	intronic	 	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs2189337	0.446086	0.2530	0.3624	1	0	0	intronic	intronic	intronic	RPAIN	RPAIN	ENSG00000129197	Na	Na	Na	Na	Na	Na	Het;C>T	383;17|11	Hom;C>T	1142;0|25
N	N	-	17	5329199	5329199	C	T	snp	ncRNA_intronic	 	 	 	 	AC004148.2																		rs3809842	0.41873	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RPAIN	RPAIN	ENSG00000263272	Na	Na	Na	Na	Na	Na	Het;C>T	175;9|9	Hom;C>T	646;0|24
N	N	-	17	5331896	5331896	A	G	snp	UTR3	*299A>G	 	 	 	RPAIN	Rpain	ENSG00000129197	RPA interacting protein	chr17:5322961-5336196		patent ductus arteriosus	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture.		GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA	GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAIN	https://www.uniprot.org/uniprot/Q86UA6		https://www.ncbi.nlm.nih.gov/omim/?term=617299	http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN	rs8070740	0.42512	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	RPAIN(NM_001160243:c.*299A>G)	RPAIN(uc010vsz.1:c.*299A>G,uc002gbp.1:c.*299A>G)	ENSG00000263272	Na	Na	Na	Na	Na	Na	Het;A>G	2169;117|93	Hom;A>G	5667;2|193
N	N	-	17	5336058	5336058	G	A	snp	ncRNA_exonic	 	 	 	 	AC004148.2																		rs1050390	0.390575	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	RPAIN(NM_001160266:c.*175G>A,NM_001160244:c.*167G>A,NM_001160246:c.*189G>A,NM_001033002:c.*167G>A)	RPAIN(uc002gbq.2:c.*167G>A,uc010vtb.1:c.*175G>A,uc002gbs.2:c.*167G>A,uc002gbt.2:c.*167G>A,uc002gbu.2:c.*167G>A,uc002gbw.2:c.*189G>A)	ENSG00000263272	Na	Na	Na	Na	Na	Na	Het;G>A	908;74|48	Hom;G>A	3144;0|123
N	N	-	17	5336188	5336188	A	G	snp	ncRNA_exonic	 	 	 	 	AC004148.2																		rs1050456	0.396166	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	C1QBP(NM_001212:c.*147T>C),RPAIN(NM_001160266:c.*305A>G,NM_001160244:c.*297A>G,NM_001160246:c.*319A>G,NM_001033002:c.*297A>G)	C1QBP(uc002gby.1:c.*147T>C),RPAIN(uc002gbq.2:c.*297A>G,uc010vtb.1:c.*305A>G,uc002gbs.2:c.*297A>G,uc002gbt.2:c.*297A>G,uc002gbu.2:c.*297A>G,uc002gbw.2:c.*319A>G)	ENSG00000263272	Na	Na	Na	Na	Na	Na	Het;A>G	768;41|31	Hom;A>G	1765;2|58
N	N	-	17	5336210	5336210	T	C	snp	UTR3	*125A>G	 	 	 	C1QBP	C1qbp	ENSG00000108561	complement C1q binding protein	chr17:5336097-5352150	The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma	Mice homozygous for a knock-out allele exhibit embryonic lethality by E11.5 with poor development, small embryo size, pale and anemic organs, poor cellular proliferation and impaired mitochondrial electron transport chain function.	Intrinsic Pathway of Fibrin Clot Formation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;IEA|GO:0006955;immune response;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0008380;RNA splicing;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0030449;regulation of complement activation;IDA|GO:0032689;negative regulation of interferon-gamma production;IDA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0039534;negative regulation of MDA-5 signaling pathway;IDA|GO:0039536;negative regulation of RIG-I signaling pathway;IDA|GO:0042254;ribosome biogenesis;IEA|GO:0042256;mature ribosome assembly;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IDA|GO:0050687;negative regulation of defense response to virus;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0070131;positive regulation of mitochondrial translation;ISS|GO:0090023;positive regulation of neutrophil chemotaxis;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901165;positive regulation of trophoblast cell migration;IMP|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA	GO:0001849;complement component C1q binding;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0003729;mRNA binding;ISS|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IDA|GO:0008134;transcription factor binding;IDA|GO:0030984;kininogen binding;IDA|GO:0031690;adrenergic receptor binding;IEA|GO:0097177;mitochondrial ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/C1QBP	https://www.uniprot.org/uniprot/Q07021	https://hpo.jax.org/app/browse/search?q=C1QBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601269	http://www.informatics.jax.org/searchtool/Search.do?query=C1QBP&submit=Quick%0D%3735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QBP	rs1050461	0.396366	0	0	1	0	0	UTR3	UTR3	UTR3	C1QBP(NM_001212:c.*125A>G),RPAIN(NM_001160266:c.*327T>C,NM_001160244:c.*319T>C,NM_001160246:c.*341T>C,NM_001033002:c.*319T>C)	C1QBP(uc002gby.1:c.*125A>G),RPAIN(uc002gbq.2:c.*319T>C,uc010vtb.1:c.*327T>C,uc002gbs.2:c.*319T>C,uc002gbt.2:c.*319T>C,uc002gbu.2:c.*319T>C,uc002gbw.2:c.*341T>C)	ENSG00000108561(ENST00000225698:c.*125A>G,ENST00000574444:c.*125A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	507;27|19	Hom;T>C	1413;0|44
N	N	-	17	5336791	5336791	G	T	snp	intronic	 	 	 	 	C1QBP	C1qbp	ENSG00000108561	complement C1q binding protein	chr17:5336097-5352150	The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma	Mice homozygous for a knock-out allele exhibit embryonic lethality by E11.5 with poor development, small embryo size, pale and anemic organs, poor cellular proliferation and impaired mitochondrial electron transport chain function.	Intrinsic Pathway of Fibrin Clot Formation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;IEA|GO:0006955;immune response;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0008380;RNA splicing;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0030449;regulation of complement activation;IDA|GO:0032689;negative regulation of interferon-gamma production;IDA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0039534;negative regulation of MDA-5 signaling pathway;IDA|GO:0039536;negative regulation of RIG-I signaling pathway;IDA|GO:0042254;ribosome biogenesis;IEA|GO:0042256;mature ribosome assembly;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IDA|GO:0050687;negative regulation of defense response to virus;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0070131;positive regulation of mitochondrial translation;ISS|GO:0090023;positive regulation of neutrophil chemotaxis;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901165;positive regulation of trophoblast cell migration;IMP|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA	GO:0001849;complement component C1q binding;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0003729;mRNA binding;ISS|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IDA|GO:0008134;transcription factor binding;IDA|GO:0030984;kininogen binding;IDA|GO:0031690;adrenergic receptor binding;IEA|GO:0097177;mitochondrial ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/C1QBP	https://www.uniprot.org/uniprot/Q07021	https://hpo.jax.org/app/browse/search?q=C1QBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601269	http://www.informatics.jax.org/searchtool/Search.do?query=C1QBP&submit=Quick%0D%3735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QBP	rs4790264	0.389377	0	0	1	0	0	intronic	intronic	intronic	C1QBP	C1QBP	ENSG00000108561	Na	Na	Na	Na	Na	Na	Het;G>T	376;14|19	Hom;G>T	638;1|25
N	N	-	17	5337137	5337137	G	C	snp	intronic	 	 	 	 	C1QBP	C1qbp	ENSG00000108561	complement C1q binding protein	chr17:5336097-5352150	The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma	Mice homozygous for a knock-out allele exhibit embryonic lethality by E11.5 with poor development, small embryo size, pale and anemic organs, poor cellular proliferation and impaired mitochondrial electron transport chain function.	Intrinsic Pathway of Fibrin Clot Formation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;IEA|GO:0006955;immune response;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0008380;RNA splicing;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0030449;regulation of complement activation;IDA|GO:0032689;negative regulation of interferon-gamma production;IDA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0039534;negative regulation of MDA-5 signaling pathway;IDA|GO:0039536;negative regulation of RIG-I signaling pathway;IDA|GO:0042254;ribosome biogenesis;IEA|GO:0042256;mature ribosome assembly;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IDA|GO:0050687;negative regulation of defense response to virus;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0070131;positive regulation of mitochondrial translation;ISS|GO:0090023;positive regulation of neutrophil chemotaxis;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901165;positive regulation of trophoblast cell migration;IMP|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA	GO:0001849;complement component C1q binding;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0003729;mRNA binding;ISS|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IDA|GO:0008134;transcription factor binding;IDA|GO:0030984;kininogen binding;IDA|GO:0031690;adrenergic receptor binding;IEA|GO:0097177;mitochondrial ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/C1QBP	https://www.uniprot.org/uniprot/Q07021	https://hpo.jax.org/app/browse/search?q=C1QBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601269	http://www.informatics.jax.org/searchtool/Search.do?query=C1QBP&submit=Quick%0D%3735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QBP	rs2285747	0.390176	0.1900	0.3080	1	0	0	intronic	intronic	intronic	C1QBP	C1QBP	ENSG00000108561	Na	Na	Na	Na	Na	Na	Het;G>C	79;20|7	Hom;G>C	1038;0|35
N	N	-	17	5338301	5338315	GAAAACAGACAAGGC	G	indel	intronic	 	 	 	 	C1QBP	C1qbp	ENSG00000108561	complement C1q binding protein	chr17:5336097-5352150	The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma	Mice homozygous for a knock-out allele exhibit embryonic lethality by E11.5 with poor development, small embryo size, pale and anemic organs, poor cellular proliferation and impaired mitochondrial electron transport chain function.	Intrinsic Pathway of Fibrin Clot Formation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;IEA|GO:0006955;immune response;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0008380;RNA splicing;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0030449;regulation of complement activation;IDA|GO:0032689;negative regulation of interferon-gamma production;IDA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0039534;negative regulation of MDA-5 signaling pathway;IDA|GO:0039536;negative regulation of RIG-I signaling pathway;IDA|GO:0042254;ribosome biogenesis;IEA|GO:0042256;mature ribosome assembly;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IDA|GO:0050687;negative regulation of defense response to virus;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0070131;positive regulation of mitochondrial translation;ISS|GO:0090023;positive regulation of neutrophil chemotaxis;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901165;positive regulation of trophoblast cell migration;IMP|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA	GO:0001849;complement component C1q binding;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0003729;mRNA binding;ISS|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IDA|GO:0008134;transcription factor binding;IDA|GO:0030984;kininogen binding;IDA|GO:0031690;adrenergic receptor binding;IEA|GO:0097177;mitochondrial ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/C1QBP	https://www.uniprot.org/uniprot/Q07021	https://hpo.jax.org/app/browse/search?q=C1QBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601269	http://www.informatics.jax.org/searchtool/Search.do?query=C1QBP&submit=Quick%0D%3735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QBP	rs137972227	0.385783	0.1712	0.2996	1	0	0	intronic	intronic	intronic	C1QBP	C1QBP	ENSG00000108561	Na	Na	Na	Na	Na	Na	Het;-AAAACAGACAAGGC	834;25|23	Hom;-AAAACAGACAAGGC	1554;0|37
N	N	-	17	5341749	5341749	A	G	snp	intronic	 	 	 	 	C1QBP	C1qbp	ENSG00000108561	complement C1q binding protein	chr17:5336097-5352150	The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma	Mice homozygous for a knock-out allele exhibit embryonic lethality by E11.5 with poor development, small embryo size, pale and anemic organs, poor cellular proliferation and impaired mitochondrial electron transport chain function.	Intrinsic Pathway of Fibrin Clot Formation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;IEA|GO:0006955;immune response;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0008380;RNA splicing;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0030449;regulation of complement activation;IDA|GO:0032689;negative regulation of interferon-gamma production;IDA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0039534;negative regulation of MDA-5 signaling pathway;IDA|GO:0039536;negative regulation of RIG-I signaling pathway;IDA|GO:0042254;ribosome biogenesis;IEA|GO:0042256;mature ribosome assembly;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IDA|GO:0050687;negative regulation of defense response to virus;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0070131;positive regulation of mitochondrial translation;ISS|GO:0090023;positive regulation of neutrophil chemotaxis;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901165;positive regulation of trophoblast cell migration;IMP|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA	GO:0001849;complement component C1q binding;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0003729;mRNA binding;ISS|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IDA|GO:0008134;transcription factor binding;IDA|GO:0030984;kininogen binding;IDA|GO:0031690;adrenergic receptor binding;IEA|GO:0097177;mitochondrial ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/C1QBP	https://www.uniprot.org/uniprot/Q07021	https://hpo.jax.org/app/browse/search?q=C1QBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601269	http://www.informatics.jax.org/searchtool/Search.do?query=C1QBP&submit=Quick%0D%3735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QBP	rs1805435	0.46905	0	0	1	0	0	intronic	intronic	intronic	C1QBP	C1QBP	ENSG00000108561	Na	Na	Na	Na	Na	Na	Het;A>G	80;1|3	Hom;A>G	271;0|9
N	N	-	17	5347576	5347576	G	A	snp	synonymous SNV	C1578T	Y526Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	DHX33	Dhx33	ENSG00000005100	DEAH-box helicase 33	chr17:5344232-5372380	This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]	HIV Infections|[X]Human immunodeficiency virus disease; Meningeal Neoplasms|meningioma; Magnesium; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	 		GO:0006396;RNA processing;IBA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IBA	GO:0000166;nucleotide binding;IEA|GO:0000182;rDNA binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0033613;activating transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX33	https://www.uniprot.org/uniprot/Q9H6R0		https://www.ncbi.nlm.nih.gov/omim/?term=614405	http://www.informatics.jax.org/searchtool/Search.do?query=DHX33&submit=Quick%0D%346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX33	rs2074438	0.281949	0.0966	0.2082	1	0	0	exonic	exonic	exonic	DHX33	DHX33	ENSG00000005100	synonymous SNV	synonymous SNV	unknown	DHX33:NM_001199699:exon11:c.C1554T:p.Y518Y,DHX33:NM_020162:exon12:c.C2073T:p.Y691Y,	DHX33:uc010clf.3:exon8:c.C1578T:p.Y526Y,DHX33:uc002gcb.3:exon11:c.C1554T:p.Y518Y,DHX33:uc002gca.3:exon12:c.C2073T:p.Y691Y,DHX33:uc002gbz.3:exon9:c.C1386T:p.Y462Y,	UNKNOWN	Het;G>A	2063;95|102	Hom;G>A	5105;1|193
N	N	-	17	5354077	5354077	C	T	snp	intronic	 	 	 	 	DHX33	Dhx33	ENSG00000005100	DEAH-box helicase 33	chr17:5344232-5372380	This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]	HIV Infections|[X]Human immunodeficiency virus disease; Meningeal Neoplasms|meningioma; Magnesium; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	 		GO:0006396;RNA processing;IBA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IBA	GO:0000166;nucleotide binding;IEA|GO:0000182;rDNA binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0033613;activating transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX33	https://www.uniprot.org/uniprot/Q9H6R0		https://www.ncbi.nlm.nih.gov/omim/?term=614405	http://www.informatics.jax.org/searchtool/Search.do?query=DHX33&submit=Quick%0D%346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX33	rs3744714	0.277556	0.0968	0.2060	1	0	0	intronic	intronic	intronic	DHX33	DHX33	ENSG00000005100	Na	Na	Na	Na	Na	Na	Het;C>T	464;17|20	Hom;C>T	969;0|37
N	N	-	17	53649009	53649009	G	A	snp	intergenic	 	 	 	 	AC105021.1																		rs12949069	0.121805	0	0	1	0	0	intergenic	intergenic	intergenic	MMD(dist=149668),TMEM100(dist=147979)	MMD(dist=149668),TMEM100(dist=147979)	ENSG00000236319(dist=10071),ENSG00000166292(dist=147979)	Na	Na	Na	Na	Na	Na	Het;G>A	78;4|5	Hom;G>A	219;0|9
N	N	-	17	53649217	53649217	T	C	snp	intergenic	 	 	 	 	AC105021.1																		rs6504979	0.441693	0	0	1	0	0	intergenic	intergenic	intergenic	MMD(dist=149876),TMEM100(dist=147771)	MMD(dist=149876),TMEM100(dist=147771)	ENSG00000236319(dist=10279),ENSG00000166292(dist=147771)	Na	Na	Na	Na	Na	Na	Het;T>C	307;11|13	Hom;T>C	557;0|19
N	N	-	17	53844903	53844903	G	A	snp	intronic	 	 	 	 	PCTP	Pctp	ENSG00000141179	phosphatidylcholine transfer protein	chr17:53828340-53920191		bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition	Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity.	Mitochondrial Fatty Acid Beta-Oxidation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PCTP	https://www.uniprot.org/uniprot/Q9UKL6		https://www.ncbi.nlm.nih.gov/omim/?term=606055	http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP	rs35052837	0.0523163	0	0	1	0	0	intronic	intronic	intronic	PCTP	PCTP	ENSG00000141179	Na	Na	Na	Na	Na	Na	Het;G>A	451;12|18	Hom;G>A	916;1|34
N	N	-	17	53852828	53852828	C	T	snp	UTR3	*124C>T	 	 	 	PCTP	Pctp	ENSG00000141179	phosphatidylcholine transfer protein	chr17:53828340-53920191		bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition	Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity.	Mitochondrial Fatty Acid Beta-Oxidation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PCTP	https://www.uniprot.org/uniprot/Q9UKL6		https://www.ncbi.nlm.nih.gov/omim/?term=606055	http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP	rs35629771	0.0942492	0	0	1	0	0	intronic	intronic	UTR3	PCTP	PCTP	ENSG00000141179(ENST00000576183:c.*124C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	478;20|20	Hom;C>T	905;0|28
N	N	-	17	53900177	53900177	T	C	snp	unknown	 	 	 	 	PCTP	Pctp	ENSG00000141179	phosphatidylcholine transfer protein	chr17:53828340-53920191		bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition	Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity.	Mitochondrial Fatty Acid Beta-Oxidation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PCTP	https://www.uniprot.org/uniprot/Q9UKL6		https://www.ncbi.nlm.nih.gov/omim/?term=606055	http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP	rs1454114	0.205471	0	0.5	0.20	1	5	intergenic	intergenic	exonic	PCTP(dist=45429),ANKFN1(dist=330659)	PCTP(dist=45429),ANKFN1(dist=330659)	ENSG00000141179	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	1109;54|54	Hom;T>C	3114;0|115
N	N	-	17	5415380	5415380	G	A	snp	intronic	 	 	 	 	NLRP1	Nlrp1b	ENSG00000091592	NLR family pyrin domain containing 1	chr17:5402747-5522744	This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]	Stroke; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; longevity; Autoimmune Diseases|Vitiligo; Crohn Disease|Crohn's disease; Vitiligo; Leukemia, Lymphocytic, Chronic, B-Cell; Addison Disease|Addison's disease; diabetes, type 1 ; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|Dermatitis, Atopic|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Eczema allergic; dermatitis and eczema	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.	The NLRP1 inflammasome	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;NAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0006954;inflammatory response;IEA|GO:0016032;viral process;IEA|GO:0032495;response to muramyl dipeptide;ISS|GO:0042742;defense response to bacterium;ISS|GO:0042981;regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;ISS|GO:0050727;regulation of inflammatory response;IC|GO:0051402;neuron apoptotic process;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA|GO:0061702;inflammasome complex;IEA|GO:0072558;NLRP1 inflammasome complex;TAS	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP1	https://www.uniprot.org/uniprot/Q9C000	https://hpo.jax.org/app/browse/search?q=NLRP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606636	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP1&submit=Quick%0D%2157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP1	rs4790774	0.560903	0	0	1	0	0	intronic	intronic	intronic	NLRP1	NLRP1	ENSG00000091592	Na	Na	Na	Na	Na	Na	Het;G>A	172;5|8	Hom;G>A	562;0|22
N	N	-	17	5415623	5415623	C	T	snp	intronic	 	 	 	 	NLRP1	Nlrp1b	ENSG00000091592	NLR family pyrin domain containing 1	chr17:5402747-5522744	This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]	Stroke; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; longevity; Autoimmune Diseases|Vitiligo; Crohn Disease|Crohn's disease; Vitiligo; Leukemia, Lymphocytic, Chronic, B-Cell; Addison Disease|Addison's disease; diabetes, type 1 ; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|Dermatitis, Atopic|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Eczema allergic; dermatitis and eczema	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.	The NLRP1 inflammasome	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;NAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0006954;inflammatory response;IEA|GO:0016032;viral process;IEA|GO:0032495;response to muramyl dipeptide;ISS|GO:0042742;defense response to bacterium;ISS|GO:0042981;regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;ISS|GO:0050727;regulation of inflammatory response;IC|GO:0051402;neuron apoptotic process;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA|GO:0061702;inflammasome complex;IEA|GO:0072558;NLRP1 inflammasome complex;TAS	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP1	https://www.uniprot.org/uniprot/Q9C000	https://hpo.jax.org/app/browse/search?q=NLRP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606636	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP1&submit=Quick%0D%2157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP1	rs9911319	0.648962	0	0	1	0	0	intronic	intronic	intronic	NLRP1	NLRP1	ENSG00000091592	Na	Na	Na	Na	Na	Na	Het;C>T	1332;52|58	Hom;C>T	3518;0|131
N	N	-	17	5415684	5415684	A	C	snp	intronic	 	 	 	 	NLRP1	Nlrp1b	ENSG00000091592	NLR family pyrin domain containing 1	chr17:5402747-5522744	This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]	Stroke; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; longevity; Autoimmune Diseases|Vitiligo; Crohn Disease|Crohn's disease; Vitiligo; Leukemia, Lymphocytic, Chronic, B-Cell; Addison Disease|Addison's disease; diabetes, type 1 ; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|Dermatitis, Atopic|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Eczema allergic; dermatitis and eczema	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.	The NLRP1 inflammasome	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;NAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0006954;inflammatory response;IEA|GO:0016032;viral process;IEA|GO:0032495;response to muramyl dipeptide;ISS|GO:0042742;defense response to bacterium;ISS|GO:0042981;regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;ISS|GO:0050727;regulation of inflammatory response;IC|GO:0051402;neuron apoptotic process;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA|GO:0061702;inflammasome complex;IEA|GO:0072558;NLRP1 inflammasome complex;TAS	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP1	https://www.uniprot.org/uniprot/Q9C000	https://hpo.jax.org/app/browse/search?q=NLRP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606636	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP1&submit=Quick%0D%2157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP1	rs9912217	0.75	0	0	1	0	0	intronic	intronic	intronic	NLRP1	NLRP1	ENSG00000091592	Na	Na	Na	Na	Na	Na	Het;A>C	749;28|34	Hom;A>C	2291;0|76
N	N	-	17	54267088	54267088	A	G	snp	intronic	 	 	 	 	ANKFN1	 	ENSG00000153930	ankyrin repeat and fibronectin type III domain containing 1	chr17:54188319-54589020		Marijuana Abuse; height; Body Height; Cleft Lip; Tobacco Use Disorder	Mutant mice exhibit a variable and subtle head nodding phenotype.					http://www.genecards.org/index.php?path=/Search/keyword/ANKFN1	https://www.uniprot.org/uniprot/Q8N957			http://www.informatics.jax.org/searchtool/Search.do?query=ANKFN1&submit=Quick%0D%9703ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKFN1	rs8070779	0.81889	0	0	1	0	0	intronic	intronic	intronic	ANKFN1	ANKFN1	ENSG00000153930	Na	Na	Na	Na	Na	Na	Het;A>G	263;9|11	Hom;A>G	348;0|14
N	N	-	17	5486800	5486800	G	A	snp	intronic	 	 	 	 	NLRP1	Nlrp1b	ENSG00000091592	NLR family pyrin domain containing 1	chr17:5402747-5522744	This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]	Stroke; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; longevity; Autoimmune Diseases|Vitiligo; Crohn Disease|Crohn's disease; Vitiligo; Leukemia, Lymphocytic, Chronic, B-Cell; Addison Disease|Addison's disease; diabetes, type 1 ; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|Dermatitis, Atopic|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Eczema allergic; dermatitis and eczema	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.	The NLRP1 inflammasome	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;NAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0006954;inflammatory response;IEA|GO:0016032;viral process;IEA|GO:0032495;response to muramyl dipeptide;ISS|GO:0042742;defense response to bacterium;ISS|GO:0042981;regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;ISS|GO:0050727;regulation of inflammatory response;IC|GO:0051402;neuron apoptotic process;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA|GO:0061702;inflammasome complex;IEA|GO:0072558;NLRP1 inflammasome complex;TAS	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP1	https://www.uniprot.org/uniprot/Q9C000	https://hpo.jax.org/app/browse/search?q=NLRP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606636	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP1&submit=Quick%0D%2157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP1	rs871928	0.283546	0	0	1	0	0	intronic	intronic	intronic	NLRP1	NLRP1	ENSG00000091592	Na	Na	Na	Na	Na	Na	Het;G>A	580;16|28	Hom;G>A	841;0|34
N	N	-	17	5487164	5487164	C	G	snp	synonymous SNV	G114C	S38S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NLRP1	Nlrp1b	ENSG00000091592	NLR family pyrin domain containing 1	chr17:5402747-5522744	This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]	Stroke; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; longevity; Autoimmune Diseases|Vitiligo; Crohn Disease|Crohn's disease; Vitiligo; Leukemia, Lymphocytic, Chronic, B-Cell; Addison Disease|Addison's disease; diabetes, type 1 ; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Celiac Disease|Dermatitis, Atopic|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Eczema allergic; dermatitis and eczema	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.	The NLRP1 inflammasome	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;NAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0006954;inflammatory response;IEA|GO:0016032;viral process;IEA|GO:0032495;response to muramyl dipeptide;ISS|GO:0042742;defense response to bacterium;ISS|GO:0042981;regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;ISS|GO:0050727;regulation of inflammatory response;IC|GO:0051402;neuron apoptotic process;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA|GO:0061702;inflammasome complex;IEA|GO:0072558;NLRP1 inflammasome complex;TAS	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP1	https://www.uniprot.org/uniprot/Q9C000	https://hpo.jax.org/app/browse/search?q=NLRP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606636	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP1&submit=Quick%0D%2157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP1	rs884367	0.283147	0.1299	0.3234	1	0	0	exonic	exonic	exonic	NLRP1	NLRP1	ENSG00000091592	synonymous SNV	synonymous SNV	unknown	NLRP1:NM_014922:exon1:c.G114C:p.S38S,NLRP1:NM_033004:exon1:c.G114C:p.S38S,NLRP1:NM_033006:exon1:c.G114C:p.S38S,NLRP1:NM_033007:exon1:c.G114C:p.S38S,NLRP1:NM_001033053:exon1:c.G114C:p.S38S,	NLRP1:uc002gcg.1:exon1:c.G114C:p.S38S,NLRP1:uc002gck.3:exon1:c.G114C:p.S38S,NLRP1:uc002gcl.3:exon1:c.G114C:p.S38S,NLRP1:uc002gci.3:exon1:c.G114C:p.S38S,NLRP1:uc002gch.4:exon2:c.G114C:p.S38S,NLRP1:uc010clh.3:exon2:c.G114C:p.S38S,NLRP1:uc002gcj.3:exon1:c.G114C:p.S38S,	UNKNOWN	Het;C>G	1113;49|52	Hom;C>G	3604;1|132
N	N	-	17	54892126	54892126	A	G	snp	intronic	 	 	 	 	C17orf67	Gm525	ENSG00000214226	chromosome 17 open reading frame 67	chr17:54869274-54916134		height	 			GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C17orf67				http://www.informatics.jax.org/searchtool/Search.do?query=C17orf67&submit=Quick%0D%18225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf67	rs4794668	0.774561	0	0	1	0	0	intronic	intronic	intronic	C17orf67	C17orf67	ENSG00000214226	Na	Na	Na	Na	Na	Na	Het;A>G	191;16|9	Hom;A>G	856;0|28
N	N	-	17	54976337	54976337	A	G	snp	intronic	 	 	 	 	TRIM25	Trim25	ENSG00000121060	tripartite motif containing 25	chr17:54965270-54991399	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]	Height; height	Engineered mutations result in a compromised response to estrogen resulting in functional but small uteri.	Negative regulators of DDX58/IFIH1 signaling	GO:0002376;immune system process;IEA|GO:0006513;protein monoubiquitination;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030433;ubiquitin-dependent ERAD pathway;IEA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0033280;response to vitamin D;IEA|GO:0036503;ERAD pathway;IMP|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043627;response to estrogen;IDA|GO:0045087;innate immune response;TAS|GO:0046596;regulation of viral entry into host cell;IDA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1902186;regulation of viral release from host cell;IMP|GO:1902187;negative regulation of viral release from host cell;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016874;ligase activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;IMP	http://www.genecards.org/index.php?path=/Search/keyword/TRIM25	https://www.uniprot.org/uniprot/Q14258		https://www.ncbi.nlm.nih.gov/omim/?term=600453	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM25&submit=Quick%0D%5284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM25	rs2525995	0.796526	0	0	1	0	0	intronic	intronic	intronic	TRIM25	TRIM25	ENSG00000121060	Na	Na	Na	Na	Na	Na	Het;A>G	52;6|3	Hom;A>G	184;0|6
N	N	-	17	54978794	54978794	G	A	snp	nonsynonymous SNV	C1073T	P358L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRIM25	Trim25	ENSG00000121060	tripartite motif containing 25	chr17:54965270-54991399	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]	Height; height	Engineered mutations result in a compromised response to estrogen resulting in functional but small uteri.	Negative regulators of DDX58/IFIH1 signaling	GO:0002376;immune system process;IEA|GO:0006513;protein monoubiquitination;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030433;ubiquitin-dependent ERAD pathway;IEA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0033280;response to vitamin D;IEA|GO:0036503;ERAD pathway;IMP|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043627;response to estrogen;IDA|GO:0045087;innate immune response;TAS|GO:0046596;regulation of viral entry into host cell;IDA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1902186;regulation of viral release from host cell;IMP|GO:1902187;negative regulation of viral release from host cell;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016874;ligase activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;IMP	http://www.genecards.org/index.php?path=/Search/keyword/TRIM25	https://www.uniprot.org/uniprot/Q14258		https://www.ncbi.nlm.nih.gov/omim/?term=600453	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM25&submit=Quick%0D%5284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM25	rs205498	0.774361	0.7625	0.7485	0.08	1	13	exonic	exonic	exonic	TRIM25	TRIM25	ENSG00000121060	nonsynonymous SNV	nonsynonymous SNV	unknown	TRIM25:NM_005082:exon4:c.C1073T:p.P358L,	TRIM25:uc002iut.3:exon4:c.C1073T:p.P358L,TRIM25:uc010dcj.3:exon5:c.C449T:p.P150L,	UNKNOWN	Het;G>A	1919;77|91	Hom;G>A	3800;0|139
N	N	-	17	55704465	55704465	A	G	snp	intronic	 	 	 	 	MSI2	Msi2	ENSG00000153944	musashi RNA binding protein 2	chr17:55333212-55762046	This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]	Bipolar Disorder; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Arteries; Tunica Media; Potassium	Mice homozygous for a gene trapped allele exhibit lethality, decreased body size, and decreased hematopoietic stem cells. Mice homozygous for a conditional knock-out allele exhibit impaired hematopoietic stem cell physiology upon induction.		GO:0048864;stem cell development;IEA	GO:0005737;cytoplasm;IEA|GO:0005844;polysome;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MSI2	https://www.uniprot.org/uniprot/Q96DH6		https://www.ncbi.nlm.nih.gov/omim/?term=607897	http://www.informatics.jax.org/searchtool/Search.do?query=MSI2&submit=Quick%0D%9706ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSI2	rs1861474	0.906749	0	0	1	0	0	intronic	intronic	intronic	MSI2	MSI2	ENSG00000153944	Na	Na	Na	Na	Na	Na	Het;A>G	144;6|6	Hom;A>G	208;0|6
N	N	-	17	55822214	55822214	T	A	snp	synonymous SNV	A420T	G140G	aliphatic,neutral	aliphatic,neutral	CCDC182	Ccdc182	ENSG00000166329	coiled-coil domain containing 182	chr17:55821842-55822673			 		GO:0008585;female gonad development;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/CCDC182				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC182&submit=Quick%0D%11759ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC182	rs12451753	0.437899	0	0.5015	1	0	0	exonic	intergenic	exonic	CCDC182	MSI2(dist=64915),7SK(dist=44596)	ENSG00000166329	synonymous SNV	Na	unknown	CCDC182:NM_001282544:exon1:c.A420T:p.G140G,	Na	UNKNOWN	Het;T>A	364;39|19	Hom;T>A	1121;6|48
N	N	-	17	55822467	55822467	G	A	snp	nonsynonymous SNV	C167T	A56V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCDC182	Ccdc182	ENSG00000166329	coiled-coil domain containing 182	chr17:55821842-55822673			 		GO:0008585;female gonad development;IEA	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/CCDC182				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC182&submit=Quick%0D%11759ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC182	rs12449409	0.438299	0	0.4942	0.12	1	8	exonic	intergenic	exonic	CCDC182	MSI2(dist=65168),7SK(dist=44343)	ENSG00000166329	nonsynonymous SNV	Na	unknown	CCDC182:NM_001282544:exon1:c.C167T:p.A56V,	Na	UNKNOWN	Het;G>A	1719;79|82	Hom;G>A	3167;2|122
N	N	-	17	56155594	56155594	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927666																		rs72839937	0.0403355	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927666	SRSF1(dist=70887),DYNLL2(dist=5186)	ENSG00000266290	Na	Na	Na	Na	Na	Na	Het;T>C	1390;52|54	Hom;T>C	2925;0|96
N	N	-	17	56235104	56235104	C	A	snp	ncRNA_exonic	 	 	 	 	MSX2P1																		rs3863503	0.427516	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MSX2P1	MSX2P1	ENSG00000229590	Na	Na	Na	Na	Na	Na	Het;C>A	3583;226|174	Hom;C>A	9386;2|345
N	N	-	17	57255828	57255828	A	C	snp	ncRNA_intronic	 	 	 	 	SPDYE22P																		rs35058228	0.495807	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PRR11	PRR11	ENSG00000266537	Na	Na	Na	Na	Na	Na	Het;A>C	296;26|15	Hom;A>C	1517;0|52
N	N	-	17	57255973	57255973	T	C	snp	ncRNA_intronic	 	 	 	 	SPDYE22P																		rs11079369	0.496006	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PRR11	PRR11	ENSG00000266537	Na	Na	Na	Na	Na	Na	Het;T>C	413;25|18	Hom;T>C	1297;0|45
N	N	-	17	57260227	57260227	C	G	snp	intronic	 	 	 	 	PRR11	Prr11	ENSG00000068489	proline rich 11	chr17:57232860-57282066			 		GO:0007050;cell cycle arrest;IBA|GO:0051726;regulation of cell cycle;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PRR11	https://www.uniprot.org/uniprot/Q96HE9		https://www.ncbi.nlm.nih.gov/omim/?term=615920	http://www.informatics.jax.org/searchtool/Search.do?query=PRR11&submit=Quick%0D%1288ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR11	rs2017276	0.197883	0	0	1	0	0	intronic	intronic	intronic	PRR11	PRR11	ENSG00000068489	Na	Na	Na	Na	Na	Na	Het;C>G	1122;66|51	Hom;C>G	2657;1|97
N	N	-	17	57260589	57260589	G	A	snp	intronic	 	 	 	 	PRR11	Prr11	ENSG00000068489	proline rich 11	chr17:57232860-57282066			 		GO:0007050;cell cycle arrest;IBA|GO:0051726;regulation of cell cycle;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PRR11	https://www.uniprot.org/uniprot/Q96HE9		https://www.ncbi.nlm.nih.gov/omim/?term=615920	http://www.informatics.jax.org/searchtool/Search.do?query=PRR11&submit=Quick%0D%1288ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR11	rs2004140	0.196286	0	0	1	0	0	intronic	intronic	intronic	PRR11	PRR11	ENSG00000068489	Na	Na	Na	Na	Na	Na	Het;G>A	645;33|31	Hom;G>A	1415;2|57
N	N	-	17	57272079	57272079	G	A	snp	intronic	 	 	 	 	PRR11	Prr11	ENSG00000068489	proline rich 11	chr17:57232860-57282066			 		GO:0007050;cell cycle arrest;IBA|GO:0051726;regulation of cell cycle;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PRR11	https://www.uniprot.org/uniprot/Q96HE9		https://www.ncbi.nlm.nih.gov/omim/?term=615920	http://www.informatics.jax.org/searchtool/Search.do?query=PRR11&submit=Quick%0D%1288ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR11	rs2291193	0.454473	0.3925	0.3738	1	0	0	intronic	intronic	intronic	PRR11	PRR11	ENSG00000068489	Na	Na	Na	Na	Na	Na	Het;G>A	312;20|17	Hom;G>A	1025;0|38
N	N	-	17	57287454	57287454	A	G	snp	synonymous SNV	A42G	A14A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SMG8	Smg8	ENSG00000167447	SMG8, nonsense mediated mRNA decay factor	chr17:57286761-57292608			 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0045859;regulation of protein kinase activity;IMP	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMG8			https://www.ncbi.nlm.nih.gov/omim/?term=613175	http://www.informatics.jax.org/searchtool/Search.do?query=SMG8&submit=Quick%0D%12015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMG8	rs6503905	0.664137	0.7208	0.6332	1	0	0	exonic	exonic	exonic	SMG8	SMG8	ENSG00000167447	synonymous SNV	synonymous SNV	unknown	SMG8:NM_018149:exon1:c.A42G:p.A14A,	SMG8:uc002ixi.3:exon1:c.A42G:p.A14A,	UNKNOWN	Het;A>G	1012;64|47	Hom;A>G	3334;2|121
N	N	-	17	57290383	57290383	G	A	snp	synonymous SNV	G2199A	R733R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SMG8	Smg8	ENSG00000167447	SMG8, nonsense mediated mRNA decay factor	chr17:57286761-57292608			 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0045859;regulation of protein kinase activity;IMP	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMG8			https://www.ncbi.nlm.nih.gov/omim/?term=613175	http://www.informatics.jax.org/searchtool/Search.do?query=SMG8&submit=Quick%0D%12015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMG8	rs3744383	0.488219	0.4304	0.3815	1	0	0	exonic	exonic	exonic	SMG8	SMG8	ENSG00000167447	synonymous SNV	synonymous SNV	unknown	SMG8:NM_018149:exon3:c.G2199A:p.R733R,	SMG8:uc002ixi.3:exon3:c.G2199A:p.R733R,	UNKNOWN	Het;G>A	1773;70|83	Hom;G>A	3733;2|136
N	N	-	17	57334668	57334668	C	G	snp	intronic	 	 	 	 	GDPD1	Gdpd1	ENSG00000153982	glycerophosphodiester phosphodiesterase domain containing 1	chr17:57297828-57353328	This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]		 	Glycerophospholipid catabolism	GO:0006629;lipid metabolic process;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GDPD1	https://www.uniprot.org/uniprot/Q8N9F7		https://www.ncbi.nlm.nih.gov/omim/?term=616317	http://www.informatics.jax.org/searchtool/Search.do?query=GDPD1&submit=Quick%0D%9710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GDPD1	rs12450435	0.458267	0	0	1	0	0	intronic	intronic	intronic	GDPD1	GDPD1	ENSG00000153982	Na	Na	Na	Na	Na	Na	Het;C>G	608;20|27	Hom;C>G	1106;0|36
N	N	-	17	59556287	59556287	C	T	snp	intronic	 	 	 	 	TBX4	Tbx4	ENSG00000121075	T-box 4	chr17:59529765-59562471	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]	height; breast cancer ; Height; Cleft Lip|Cleft Palate; Bone Mineral Density; Hip Dislocation, Congenital|Joint Instability	Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth.		GO:0001525;angiogenesis;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035108;limb morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;IMP	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBX4	https://www.uniprot.org/uniprot/P57082	https://hpo.jax.org/app/browse/search?q=TBX4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601719	http://www.informatics.jax.org/searchtool/Search.do?query=TBX4&submit=Quick%0D%5289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX4	rs3785826	0.0874601	0	0	1	0	0	intronic	intronic	intronic	TBX4	TBX4	ENSG00000121075	Na	Na	Na	Na	Na	Na	Het;C>T	118;6|7	Hom;C>T	377;0|12
N	N	-	17	59557433	59557433	T	C	snp	intronic	 	 	 	 	TBX4	Tbx4	ENSG00000121075	T-box 4	chr17:59529765-59562471	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]	height; breast cancer ; Height; Cleft Lip|Cleft Palate; Bone Mineral Density; Hip Dislocation, Congenital|Joint Instability	Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth.		GO:0001525;angiogenesis;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035108;limb morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;IMP	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBX4	https://www.uniprot.org/uniprot/P57082	https://hpo.jax.org/app/browse/search?q=TBX4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601719	http://www.informatics.jax.org/searchtool/Search.do?query=TBX4&submit=Quick%0D%5289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX4	rs3744439	0.0930511	0.0839	0.0807	1	0	0	intronic	intronic	intronic	TBX4	TBX4	ENSG00000121075	Na	Na	Na	Na	Na	Na	Het;T>C	435;33|20	Hom;T>C	1633;0|53
N	N	-	17	59561015	59561015	A	G	snp	UTR3	*138A>G	 	 	 	TBX4	Tbx4	ENSG00000121075	T-box 4	chr17:59529765-59562471	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]	height; breast cancer ; Height; Cleft Lip|Cleft Palate; Bone Mineral Density; Hip Dislocation, Congenital|Joint Instability	Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth.		GO:0001525;angiogenesis;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035108;limb morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;IMP	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBX4	https://www.uniprot.org/uniprot/P57082	https://hpo.jax.org/app/browse/search?q=TBX4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601719	http://www.informatics.jax.org/searchtool/Search.do?query=TBX4&submit=Quick%0D%5289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX4	rs77924694	0.0986422	0	0	1	0	0	UTR3	UTR3	UTR3	TBX4(NM_018488:c.*138A>G)	TBX4(uc010ddo.3:c.*138A>G,uc002izi.3:c.*138A>G,uc010woy.2:c.*138A>G)	ENSG00000121075(ENST00000393853:c.*138A>G,ENST00000240335:c.*138A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	455;30|22	Hom;A>G	1240;1|31
N	N	-	17	59561584	59561584	G	T	snp	UTR3	*707G>T	 	 	 	TBX4	Tbx4	ENSG00000121075	T-box 4	chr17:59529765-59562471	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]	height; breast cancer ; Height; Cleft Lip|Cleft Palate; Bone Mineral Density; Hip Dislocation, Congenital|Joint Instability	Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth.		GO:0001525;angiogenesis;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035108;limb morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;IMP	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBX4	https://www.uniprot.org/uniprot/P57082	https://hpo.jax.org/app/browse/search?q=TBX4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601719	http://www.informatics.jax.org/searchtool/Search.do?query=TBX4&submit=Quick%0D%5289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX4	rs3744437	0.323083	0	0	1	0	0	UTR3	UTR3	UTR3	TBX4(NM_018488:c.*707G>T)	TBX4(uc010ddo.3:c.*707G>T,uc002izi.3:c.*707G>T,uc010woy.2:c.*707G>T)	ENSG00000121075(ENST00000393853:c.*707G>T,ENST00000240335:c.*707G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	978;36|49	Hom;G>T	1792;3|74
N	N	-	17	59668021	59668021	G	C	snp	nonsynonymous SNV	C521G	T174R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	NACA2	Naca	ENSG00000253506	nascent polypeptide associated complex alpha subunit 2	chr17:59667794-59668563		Height; height; Apolipoproteins B	Mice homozygous for a point mutation exhibit decreased bone volume and bone formation associated with accelerated mineralization and immature woven-bone formation. Mice null for the muscle specific isoform die during organogenesis with cardiac abnormalities.		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NACA2			https://www.ncbi.nlm.nih.gov/omim/?term=609274	http://www.informatics.jax.org/searchtool/Search.do?query=NACA2&submit=Quick%0D%20026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NACA2	rs61739273	0.149161	0.1213	0.1565	0.42	5	12	exonic	exonic	exonic	NACA2	NACA2	ENSG00000253506	nonsynonymous SNV	nonsynonymous SNV	unknown	NACA2:NM_199290:exon1:c.C521G:p.T174R,	NACA2:uc002izj.2:exon1:c.C521G:p.T174R,	UNKNOWN	Het;G>C	88;13|4	Hom;G>C	245;0|9
N	N	-	17	59674303	59674303	A	G	snp	intergenic	 	 	 	 	NACA2	Naca	ENSG00000253506	nascent polypeptide associated complex alpha subunit 2	chr17:59667794-59668563		Height; height; Apolipoproteins B	Mice homozygous for a point mutation exhibit decreased bone volume and bone formation associated with accelerated mineralization and immature woven-bone formation. Mice null for the muscle specific isoform die during organogenesis with cardiac abnormalities.		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NACA2			https://www.ncbi.nlm.nih.gov/omim/?term=609274	http://www.informatics.jax.org/searchtool/Search.do?query=NACA2&submit=Quick%0D%20026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NACA2	rs725900	0.705671	0	0	1	0	0	intergenic	intergenic	intergenic	NACA2(dist=5740),BRIP1(dist=82244)	NACA2(dist=5740),BRIP1(dist=82244)	ENSG00000253506(dist=5740),ENSG00000136492(dist=84324)	Na	Na	Na	Na	Na	Na	Het;A>G	83;5|5	Hom;A>G	120;0|6
N	N	-	17	6014400	6014410	GCCATACTCAC	G	indel	intronic	 	 	 	 	WSCD1	Wscd1	ENSG00000179314	WSC domain containing 1	chr17:5675554-6027747		Neuropsychological Tests; Diabetic Nephropathies	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008146;sulfotransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WSCD1				http://www.informatics.jax.org/searchtool/Search.do?query=WSCD1&submit=Quick%0D%14325ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WSCD1	rs147778873	0.846046	0	0	1	0	0	intronic	intronic	intronic	WSCD1	WSCD1	ENSG00000179314	Na	Na	Na	Na	Na	Na	Het;-CCATACTCAC	62;9|3	Hom;-CCATACTCAC	368;0|9
N	N	-	17	60192598	60192598	C	T	snp	intergenic	 	 	 	 	MED13	Med13	ENSG00000108510	mediator complex subunit 13	chr17:60019966-60142643	This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]	thyroid cancer; Tobacco Use Disorder	Mice homozygous for a conditional allele exhibited in the heart exhibit increased susceptibility to obesity and worsened glucose intolerance when fed a high fat diet.	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0030518;intracellular steroid hormone receptor signaling pathway;IDA|GO:0030521;androgen receptor signaling pathway;IDA|GO:0042632;cholesterol homeostasis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070328;triglyceride homeostasis;IEA|GO:1904168;negative regulation of thyroid hormone receptor activity;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016592;mediator complex;IDA	GO:0001104;RNA polymerase II transcription cofactor activity;IDA|GO:0003712;transcription cofactor activity;IDA|GO:0003713;transcription coactivator activity;IDA|GO:0004872;receptor activity;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;NAS|GO:0042809;vitamin D receptor binding;NAS|GO:0046966;thyroid hormone receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MED13	https://www.uniprot.org/uniprot/Q9UHV7		https://www.ncbi.nlm.nih.gov/omim/?term=603808	http://www.informatics.jax.org/searchtool/Search.do?query=MED13&submit=Quick%0D%3725ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED13	rs11658135	0.269968	0	0	1	0	0	intergenic	intergenic	intergenic	MED13(dist=49955),TBC1D3P2(dist=149469)	MED13(dist=49955),Mir_652(dist=98764)	ENSG00000108510(dist=49955),ENSG00000207123(dist=7083)	Na	Na	Na	Na	Na	Na	Het;C>T	396;14|21	Hom;C>T	783;0|32
N	N	-	17	60214389	60214389	G	A	snp	ncRNA_exonic	 	 	 	 	AC008158.1																		rs72844475	0.305711	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MED13(dist=71746),TBC1D3P2(dist=127678)	MED13(dist=71746),Mir_652(dist=76973)	ENSG00000266066	Na	Na	Na	Na	Na	Na	Het;G>A	188;20|11	Hom;G>A	1059;0|39
N	N	-	17	60217891	60217891	C	T	snp	ncRNA_exonic	 	 	 	 	AC008158.1																		rs9900142	0.314497	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MED13(dist=75248),TBC1D3P2(dist=124176)	MED13(dist=75248),Mir_652(dist=73471)	ENSG00000266066	Na	Na	Na	Na	Na	Na	Het;C>T	547;41|29	Hom;C>T	1486;1|53
N	N	-	17	60753904	60753904	A	C	snp	intronic	 	 	 	 	MRC2	Mrc2	ENSG00000011028	mannose receptor C type 2	chr17:60704762-60770958	This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]	head and neck cancer	Homozygous mice are visibly normal, viable and have no reproductive defects.  Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.	Cross-presentation of soluble exogenous antigens (endosomes)	GO:0001649;osteoblast differentiation;IDA|GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0030574;collagen catabolic process;IDA	GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRC2	https://www.uniprot.org/uniprot/Q9UBG0		https://www.ncbi.nlm.nih.gov/omim/?term=612264	http://www.informatics.jax.org/searchtool/Search.do?query=MRC2&submit=Quick%0D%539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRC2	rs4968617	0.481829	0.3960	0.4111	1	0	0	intronic	intronic	intronic	MRC2	MRC2	ENSG00000011028	Na	Na	Na	Na	Na	Na	Het;A>C	458;33|23	Hom;A>C	987;0|34
N	N	-	17	60767135	60767135	A	G	snp	intronic	 	 	 	 	MRC2	Mrc2	ENSG00000011028	mannose receptor C type 2	chr17:60704762-60770958	This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]	head and neck cancer	Homozygous mice are visibly normal, viable and have no reproductive defects.  Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.	Cross-presentation of soluble exogenous antigens (endosomes)	GO:0001649;osteoblast differentiation;IDA|GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0030574;collagen catabolic process;IDA	GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRC2	https://www.uniprot.org/uniprot/Q9UBG0		https://www.ncbi.nlm.nih.gov/omim/?term=612264	http://www.informatics.jax.org/searchtool/Search.do?query=MRC2&submit=Quick%0D%539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRC2	rs56288724	0.29992	0.3051	0.4130	1	0	0	intronic	intronic	intronic	MRC2	MRC2	ENSG00000011028	Na	Na	Na	Na	Na	Na	Het;A>G	396;17|15	Hom;A>G	769;0|25
N	N	-	17	60769406	60769406	T	C	snp	intronic	 	 	 	 	MRC2	Mrc2	ENSG00000011028	mannose receptor C type 2	chr17:60704762-60770958	This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]	head and neck cancer	Homozygous mice are visibly normal, viable and have no reproductive defects.  Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.	Cross-presentation of soluble exogenous antigens (endosomes)	GO:0001649;osteoblast differentiation;IDA|GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0030574;collagen catabolic process;IDA	GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRC2	https://www.uniprot.org/uniprot/Q9UBG0		https://www.ncbi.nlm.nih.gov/omim/?term=612264	http://www.informatics.jax.org/searchtool/Search.do?query=MRC2&submit=Quick%0D%539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRC2	rs35688424	0.277756	0.3156	0	1	0	0	intronic	intronic	intronic	MRC2	MRC2	ENSG00000011028	Na	Na	Na	Na	Na	Na	Het;T>C	96;11|6	Hom;T>C	538;0|21
N	N	-	17	60769803	60769803	A	G	snp	synonymous SNV	A1644G	Q548Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MRC2	Mrc2	ENSG00000011028	mannose receptor C type 2	chr17:60704762-60770958	This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]	head and neck cancer	Homozygous mice are visibly normal, viable and have no reproductive defects.  Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.	Cross-presentation of soluble exogenous antigens (endosomes)	GO:0001649;osteoblast differentiation;IDA|GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0030574;collagen catabolic process;IDA	GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRC2	https://www.uniprot.org/uniprot/Q9UBG0		https://www.ncbi.nlm.nih.gov/omim/?term=612264	http://www.informatics.jax.org/searchtool/Search.do?query=MRC2&submit=Quick%0D%539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRC2	rs3826537	0.334465	0.3388	0.4229	1	0	0	exonic	exonic	exonic	MRC2	MRC2	ENSG00000011028	synonymous SNV	synonymous SNV	unknown	MRC2:NM_006039:exon30:c.A4431G:p.Q1477Q,	MRC2:uc002jae.4:exon14:c.A1644G:p.Q548Q,MRC2:uc002jaf.4:exon11:c.A1029G:p.Q343Q,MRC2:uc002jad.4:exon30:c.A4431G:p.Q1477Q,	UNKNOWN	Het;A>G	891;45|41	Hom;A>G	2112;0|75
N	N	-	17	61556298	61556298	C	G	snp	intronic	 	 	 	 	ACE	Ace	ENSG00000159640	angiotensin I converting enzyme	chr17:61562184-61599209	This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]		Mice homozygous for a number of different targeted mutations show variable phenotypes, including reduced systemic blood pressure, normocytic anemia, renal abnormalities, inability to concentrate urine, and reduced male fertility.	Metabolism of Angiotensinogen to Angiotensins	GO:0001822;kidney development;IMP|GO:0001974;blood vessel remodeling;IC|GO:0002003;angiotensin maturation;IEA|GO:0002005;angiotensin catabolic process in blood;IC|GO:0002019;regulation of renal output by angiotensin;IC|GO:0002446;neutrophil mediated immunity;ISS|GO:0002474;antigen processing and presentation of peptide antigen via MHC class I;TAS|GO:0003081;regulation of systemic arterial blood pressure by renin-angiotensin;IMP|GO:0006508;proteolysis;IEA|GO:0007283;spermatogenesis;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014910;regulation of smooth muscle cell migration;ISS|GO:0019229;regulation of vasoconstriction;IC|GO:0032943;mononuclear cell proliferation;IC|GO:0042447;hormone catabolic process;IDA|GO:0043171;peptide catabolic process;IDA|GO:0046813;receptor-mediated virion attachment to host cell;IEA|GO:0050435;beta-amyloid metabolic process;IDA|GO:0050482;arachidonic acid secretion;IDA|GO:0060047;heart contraction;ISS|GO:0060177;regulation of angiotensin metabolic process;IDA|GO:0060218;hematopoietic stem cell differentiation;IC|GO:0061098;positive regulation of protein tyrosine kinase activity;ISS|GO:0071838;cell proliferation in bone marrow;ISS|GO:0097746;regulation of blood vessel diameter;IC|GO:1900086;positive regulation of peptidyl-tyrosine autophosphorylation;ISS|GO:1902033;regulation of hematopoietic stem cell proliferation;IC|GO:1903597;negative regulation of gap junction assembly;ISS|GO:2000170;positive regulation of peptidyl-cysteine S-nitrosylation;ISS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004175;endopeptidase activity;IDA|GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008144;drug binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008238;exopeptidase activity;IDA|GO:0008240;tripeptidyl-peptidase activity;IDA|GO:0008241;peptidyl-dipeptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0031404;chloride ion binding;IDA|GO:0031434;mitogen-activated protein kinase kinase binding;IPI|GO:0031711;bradykinin receptor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0070573;metallodipeptidase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/ACE		https://hpo.jax.org/app/browse/search?q=ACE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=106180	http://www.informatics.jax.org/searchtool/Search.do?query=ACE&submit=Quick%0D%10357ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACE	rs4295	0.633387	0	0	1	0	0	intronic	intronic	intronic	ACE	ACE	ENSG00000159640	Na	Na	Na	Na	Na	Na	Het;C>G	206;16|9	Hom;C>G	986;0|28
N	N	-	17	62401118	62401118	T	C	snp	ncRNA_exonic	 	 	 	 	PECAM1	Pecam1																	rs2812	0.548722	0.4665	0	1	0	0	UTR3	ncRNA_exonic	intergenic	PECAM1(NM_000442:c.*58A>G)	PECAM1	ENSG00000256358(dist=15068),ENSG00000271605(dist=60451)	Na	Na	Na	Na	Na	Na	Het;T>C	408;24|21	Hom;T>C	2186;0|73
N	N	-	17	62406971	62406971	A	G	snp	ncRNA_intronic	 	 	 	 	PECAM1	Pecam1																	rs2070783	0.61262	0.5302	0	1	0	0	intronic	ncRNA_intronic	intergenic	PECAM1	PECAM1	ENSG00000256358(dist=20921),ENSG00000271605(dist=54598)	Na	Na	Na	Na	Na	Na	Het;A>G	211;4|7	Hom;A>G	281;0|10
N	N	-	17	62748076	62748077	TA	T	indel	ncRNA_splicing	 	 	 	 	ARHGAP27P1-BPTFP1-KPNA2P3																		rs143990467	0	0	0	1	0	0	ncRNA_splicing	intergenic	ncRNA_splicing	LOC146880	SMURF2(dist=89690),LOC146880(dist=10396)	ENSG00000215769,ENSG00000266820	Na	Na	Na	Na	Na	Na	Het;-A	299;4|20	Hom;-A	888;2|45
N	N	-	17	6327551	6327551	G	A	snp	UTR3	*1229C>T	 	 	 	AIPL1	Aipl1	ENSG00000129221	aryl hydrocarbon receptor interacting protein like 1	chr17:6297013-6338519	Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Retinal Diseases; Leber congenital amaurosis/LCA; Blindness|Optic Atrophy, Hereditary, Leber	Homozygous null mice display complete retinal degeneration and a lack of electroretinographic responses.  Homozygous hypomorphic mutants display less severe retinal degeneration and impaired electroretinographic responses.		GO:0001895;retina homeostasis;IEA|GO:0007601;visual perception;IEA|GO:0007603;phototransduction, visible light;IEA|GO:0018343;protein farnesylation;IDA|GO:0030823;regulation of cGMP metabolic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0050896;response to stimulus;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0001918;farnesylated protein binding;IDA|GO:0005515;protein binding;IPI|GO:0051082;unfolded protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AIPL1	https://www.uniprot.org/uniprot/Q9NZN9	https://hpo.jax.org/app/browse/search?q=AIPL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604392	http://www.informatics.jax.org/searchtool/Search.do?query=AIPL1&submit=Quick%0D%6231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIPL1	rs907938	0.288339	0	0	1	0	0	UTR3	UTR3	UTR3	AIPL1(NM_001285399:c.*1229C>T,NM_001033055:c.*1229C>T,NM_001285402:c.*1229C>T,NM_001285401:c.*1229C>T,NM_001285400:c.*1229C>T,NM_001033054:c.*1229C>T,NM_014336:c.*1229C>T)	AIPL1(uc021toq.1:c.*1229C>T,uc002gcq.3:c.*1229C>T,uc002gcp.3:c.*1229C>T,uc002gcr.3:c.*1229C>T,uc010clk.3:c.*1229C>T,uc010cll.3:c.*1229C>T)	ENSG00000129221(ENST00000381129:c.*1229C>T,ENST00000381128:c.*2256C>T,ENST00000250087:c.*1229C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	478;35|25	Hom;G>A	1211;0|43
N	N	-	17	63525300	63525300	G	T	snp	UTR3	*794C>A	 	 	 	AXIN2	Axin2	ENSG00000168646	axin 2	chr17:63524681-63557765	The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]	lung cancer; colorectal cancer; ovarian cancer ; Bone Mineral Density; chronic obstructive pulmonary disease; breast cancer; head and neck cancer; Cleft Lip|Cleft Palate|Tooth Abnormalities; Neuroblastoma; depression; Hirschsprung Disease; lung cancer ; hypodontia oligodontia; esophageal adenocarcinoma; colorectal adenomas; colorectal cancer head and neck cancer lung cancer; bladder cancer; breast cancer 	Homozygous mutant mice exhibit premature fusion of cranial sutures, enhanced expansion of osteoprogenitors, accelerated ossification, and increased osteoblast proliferation and differentiation.	Ub-specific processing proteases	GO:0001756;somitogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0001957;intramembranous ossification;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003413;chondrocyte differentiation involved in endochondral bone morphogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;TAS|GO:0016579;protein deubiquitination;TAS|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030282;bone mineralization;IEA|GO:0032423;regulation of mismatch repair;IMP|GO:0034613;cellular protein localization;IDA|GO:0035414;negative regulation of catenin import into nucleus;IMP|GO:0042476;odontogenesis;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0048255;mRNA stabilization;IMP|GO:0061181;regulation of chondrocyte development;IEA|GO:0070602;regulation of centromeric sister chromatid cohesion;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA|GO:0030877;beta-catenin destruction complex;NAS	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;NAS|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070411;I-SMAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AXIN2		https://hpo.jax.org/app/browse/search?q=AXIN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604025	http://www.informatics.jax.org/searchtool/Search.do?query=AXIN2&submit=Quick%0D%12315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AXIN2	rs10438779	0.0832668	0	0	1	0	0	UTR3	UTR3	UTR3	AXIN2(NM_004655:c.*794C>A)	AXIN2(uc002jfh.3:c.*794C>A,uc002jfi.3:c.*794C>A)	ENSG00000168646(ENST00000307078:c.*794C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	727;65|42	Hom;G>T	2832;2|108
N	N	-	17	6371780	6371780	T	A	snp	intronic	 	 	 	 	PITPNM3	Pitpnm3	ENSG00000091622	PITPNM family member 3	chr17:6354584-6459814	This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	Hip	 	Synthesis of PI	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0046488;phosphatidylinositol metabolic process;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008526;phosphatidylinositol transporter activity;TAS|GO:0030971;receptor tyrosine kinase binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PITPNM3	https://www.uniprot.org/uniprot/Q9BZ71	https://hpo.jax.org/app/browse/search?q=PITPNM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608921	http://www.informatics.jax.org/searchtool/Search.do?query=PITPNM3&submit=Quick%0D%2158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PITPNM3	rs34536093	0.123203	0	0	1	0	0	intronic	intronic	intronic	PITPNM3	PITPNM3	ENSG00000091622	Na	Na	Na	Na	Na	Na	Het;T>A	204;3|11	Hom;T>A	302;0|13
N	N	-	17	6377986	6377986	T	C	snp	intronic	 	 	 	 	PITPNM3	Pitpnm3	ENSG00000091622	PITPNM family member 3	chr17:6354584-6459814	This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	Hip	 	Synthesis of PI	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0046488;phosphatidylinositol metabolic process;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008526;phosphatidylinositol transporter activity;TAS|GO:0030971;receptor tyrosine kinase binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PITPNM3	https://www.uniprot.org/uniprot/Q9BZ71	https://hpo.jax.org/app/browse/search?q=PITPNM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608921	http://www.informatics.jax.org/searchtool/Search.do?query=PITPNM3&submit=Quick%0D%2158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PITPNM3	rs12452411	0.210064	0	0	1	0	0	intronic	intronic	intronic	PITPNM3	PITPNM3	ENSG00000091622	Na	Na	Na	Na	Na	Na	Het;T>C	147;5|5	Hom;T>C	718;0|22
N	N	-	17	64025829	64025829	C	T	snp	intronic	 	 	 	 	CEP112	Cep112	ENSG00000154240	centrosomal protein 112	chr17:63631656-64188202	This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Tobacco Use Disorder; Myocardial Infarction; Attention Deficit Disorder with Hyperactivity; multiple sclerosis; Body Weight	 		GO:0097120;receptor localization to synapse;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0060077;inhibitory synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP112	https://www.uniprot.org/uniprot/Q8N8E3			http://www.informatics.jax.org/searchtool/Search.do?query=CEP112&submit=Quick%0D%9747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP112	rs9908375	0.927117	0	0	1	0	0	intronic	intronic	intronic	CEP112	CEP112	ENSG00000154240	Na	Na	Na	Na	Na	Na	Het;C>T	35;5|2	Hom;C>T	152;0|4
N	N	-	17	64208230	64208230	G	A	snp	UTR3	*21C>T	 	 	 	APOH	Apoh	ENSG00000091583	apolipoprotein H	chr17:64208151-64252643	Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies.  APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]	C-Reactive Protein; stroke; lipids; stroke; lipids; Antiphospholipid Syndrome|Leprosy, Multibacillary; Antiphospholipid Syndrome|Thrombosis; arterial thrombosis thromboembolism, venous; Type 2 Diabetes| edema | rosiglitazone; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; antiphospholipid syndrome; lipid metabolism; Cerebral Infarction|; lipoprotein; brain hemorrhage; systemic lupus erythematosus; Kidney Failure, Chronic; BMI rosiglitazone or pioglitazone; null; Leprosy, Multibacillary|Leprosy, Paucibacillary; Carotid Stenosis|Lupus Erythematosus, Systemic|Lupus Nephritis; lipoprotein; antiphospholipid syndrome; Hypercholesterolemia|LDLC levels; reduced gene expression and lower plasma levels of beta2-glycoprotein I	Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses.	Platelet degranulation 	GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002576;platelet degranulation;TAS|GO:0006641;triglyceride metabolic process;IDA|GO:0007597;blood coagulation, intrinsic pathway;IDA|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030193;regulation of blood coagulation;IEA|GO:0030194;positive regulation of blood coagulation;TAS|GO:0030195;negative regulation of blood coagulation;IDA|GO:0031639;plasminogen activation;IDA|GO:0033033;negative regulation of myeloid cell apoptotic process;IDA|GO:0034197;triglyceride transport;ISS|GO:0034392;negative regulation of smooth muscle cell apoptotic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0051917;regulation of fibrinolysis;IDA|GO:0051918;negative regulation of fibrinolysis;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IEA|GO:0008289;lipid binding;IDA|GO:0042802;identical protein binding;IPI|GO:0060230;lipoprotein lipase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOH	https://www.uniprot.org/uniprot/P02749		https://www.ncbi.nlm.nih.gov/omim/?term=138700	http://www.informatics.jax.org/searchtool/Search.do?query=APOH&submit=Quick%0D%2156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOH	rs6933	0.76238	0.6461	0.6307	1	0	0	UTR3	UTR3	UTR3	APOH(NM_000042:c.*21C>T)	APOH(uc002jfn.4:c.*21C>T)	ENSG00000091583(ENST00000205948:c.*21C>T,ENST00000585162:c.*21C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	294;22|16	Hom;G>A	1494;0|56
N	N	-	17	64208396	64208396	G	A	snp	intronic	 	 	 	 	APOH	Apoh	ENSG00000091583	apolipoprotein H	chr17:64208151-64252643	Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies.  APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]	C-Reactive Protein; stroke; lipids; stroke; lipids; Antiphospholipid Syndrome|Leprosy, Multibacillary; Antiphospholipid Syndrome|Thrombosis; arterial thrombosis thromboembolism, venous; Type 2 Diabetes| edema | rosiglitazone; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; antiphospholipid syndrome; lipid metabolism; Cerebral Infarction|; lipoprotein; brain hemorrhage; systemic lupus erythematosus; Kidney Failure, Chronic; BMI rosiglitazone or pioglitazone; null; Leprosy, Multibacillary|Leprosy, Paucibacillary; Carotid Stenosis|Lupus Erythematosus, Systemic|Lupus Nephritis; lipoprotein; antiphospholipid syndrome; Hypercholesterolemia|LDLC levels; reduced gene expression and lower plasma levels of beta2-glycoprotein I	Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses.	Platelet degranulation 	GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002576;platelet degranulation;TAS|GO:0006641;triglyceride metabolic process;IDA|GO:0007597;blood coagulation, intrinsic pathway;IDA|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030193;regulation of blood coagulation;IEA|GO:0030194;positive regulation of blood coagulation;TAS|GO:0030195;negative regulation of blood coagulation;IDA|GO:0031639;plasminogen activation;IDA|GO:0033033;negative regulation of myeloid cell apoptotic process;IDA|GO:0034197;triglyceride transport;ISS|GO:0034392;negative regulation of smooth muscle cell apoptotic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0051917;regulation of fibrinolysis;IDA|GO:0051918;negative regulation of fibrinolysis;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IEA|GO:0008289;lipid binding;IDA|GO:0042802;identical protein binding;IPI|GO:0060230;lipoprotein lipase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOH	https://www.uniprot.org/uniprot/P02749		https://www.ncbi.nlm.nih.gov/omim/?term=138700	http://www.informatics.jax.org/searchtool/Search.do?query=APOH&submit=Quick%0D%2156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOH	rs1558359	0.761781	0	0	1	0	0	intronic	intronic	intronic	APOH	APOH	ENSG00000091583	Na	Na	Na	Na	Na	Na	Het;G>A	315;18|16	Hom;G>A	593;0|21
N	N	-	17	64216644	64216644	G	A	snp	intronic	 	 	 	 	APOH	Apoh	ENSG00000091583	apolipoprotein H	chr17:64208151-64252643	Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies.  APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]	C-Reactive Protein; stroke; lipids; stroke; lipids; Antiphospholipid Syndrome|Leprosy, Multibacillary; Antiphospholipid Syndrome|Thrombosis; arterial thrombosis thromboembolism, venous; Type 2 Diabetes| edema | rosiglitazone; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; antiphospholipid syndrome; lipid metabolism; Cerebral Infarction|; lipoprotein; brain hemorrhage; systemic lupus erythematosus; Kidney Failure, Chronic; BMI rosiglitazone or pioglitazone; null; Leprosy, Multibacillary|Leprosy, Paucibacillary; Carotid Stenosis|Lupus Erythematosus, Systemic|Lupus Nephritis; lipoprotein; antiphospholipid syndrome; Hypercholesterolemia|LDLC levels; reduced gene expression and lower plasma levels of beta2-glycoprotein I	Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses.	Platelet degranulation 	GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002576;platelet degranulation;TAS|GO:0006641;triglyceride metabolic process;IDA|GO:0007597;blood coagulation, intrinsic pathway;IDA|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030193;regulation of blood coagulation;IEA|GO:0030194;positive regulation of blood coagulation;TAS|GO:0030195;negative regulation of blood coagulation;IDA|GO:0031639;plasminogen activation;IDA|GO:0033033;negative regulation of myeloid cell apoptotic process;IDA|GO:0034197;triglyceride transport;ISS|GO:0034392;negative regulation of smooth muscle cell apoptotic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0051917;regulation of fibrinolysis;IDA|GO:0051918;negative regulation of fibrinolysis;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IEA|GO:0008289;lipid binding;IDA|GO:0042802;identical protein binding;IPI|GO:0060230;lipoprotein lipase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOH	https://www.uniprot.org/uniprot/P02749		https://www.ncbi.nlm.nih.gov/omim/?term=138700	http://www.informatics.jax.org/searchtool/Search.do?query=APOH&submit=Quick%0D%2156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOH	rs3744317	0.791134	0.6911	0.6707	1	0	0	intronic	intronic	intronic	APOH	APOH	ENSG00000091583	Na	Na	Na	Na	Na	Na	Het;G>A	287;16|14	Hom;G>A	295;0|10
N	N	-	17	64365433	64365433	C	T	snp	intronic	 	 	 	 	PRKCA	Prkca	ENSG00000154229	protein kinase C alpha	chr17:64298754-64806861	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]	Hepatopulmonary Syndrome|Liver Cirrhosis; breast cancer ; schizophrenia; several psychiatric disorders; esophageal adenocarcinoma; obesity|asthma; Tobacco Use Disorder; Multiple Sclerosis; Asthma; Bacterial Vaginosis|Premature Birth|Vaginosis, Bacterial; Schizophrenia; plasma HDL cholesterol (HDL-C) levels; multiple sclerosis	Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure.	RET signaling	GO:0001525;angiogenesis;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0002159;desmosome assembly;IMP|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007190;activation of adenylate cyclase activity;ISS|GO:0007194;negative regulation of adenylate cyclase activity;ISS|GO:0007411;axon guidance;TAS|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010613;positive regulation of cardiac muscle hypertrophy;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031666;positive regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0034351;negative regulation of glial cell apoptotic process;IMP|GO:0035408;histone H3-T6 phosphorylation;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045651;positive regulation of macrophage differentiation;ISS|GO:0045766;positive regulation of angiogenesis;IMP|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0070555;response to interleukin-1;IMP|GO:0090330;regulation of platelet aggregation;IDA|GO:0097190;apoptotic signaling pathway;TAS|GO:2000707;positive regulation of dense core granule biogenesis;ISS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;TAS|GO:0004698;calcium-dependent protein kinase C activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IDA|GO:0035403;histone kinase activity (H3-T6 specific);IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRKCA	https://www.uniprot.org/uniprot/P17252		https://www.ncbi.nlm.nih.gov/omim/?term=176960	http://www.informatics.jax.org/searchtool/Search.do?query=PRKCA&submit=Quick%0D%9745ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCA	rs56005409	0.143171	0	0	1	0	0	intronic	intronic	intronic	PRKCA	PRKCA	ENSG00000154229	Na	Na	Na	Na	Na	Na	Het;C>T	40;3|3	Hom;C>T	57;0|3
N	N	-	17	65034606	65034606	C	T	snp	intergenic	 	 	 	 	CACNG4	Cacng4	ENSG00000075461	calcium voltage-gated channel auxiliary subunit gamma 4	chr17:64961026-65029514	The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]	Echocardiography; Type 2 Diabetes| edema | rosiglitazone; multiple sclerosis	Homozygous mutant mice are viable, fertile and phenotypically normal with no ataxic gait or absence seizures.	LGI-ADAM interactions	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0019226;transmission of nerve impulse;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051899;membrane depolarization;TAS|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IBA|GO:2000311;regulation of AMPA receptor activity;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0016247;channel regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CACNG4	https://www.uniprot.org/uniprot/Q9UBN1		https://www.ncbi.nlm.nih.gov/omim/?term=606404	http://www.informatics.jax.org/searchtool/Search.do?query=CACNG4&submit=Quick%0D%1551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG4	rs9909966	0.497204	0	0	1	0	0	intergenic	intergenic	intergenic	CACNG4(dist=5088),CACNG1(dist=6046)	CACNG4(dist=5088),CACNG1(dist=6046)	ENSG00000075461(dist=5092),ENSG00000108878(dist=6100)	Na	Na	Na	Na	Na	Na	Het;C>T	44;1|3	Hom;C>T	84;0|4
N	N	-	17	65051104	65051105	CA	C	indel	intronic	 	 	 	 	CACNG1	Cacng1	ENSG00000108878	calcium voltage-gated channel auxiliary subunit gamma 1	chr17:65040706-65052909	Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]	HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for null mutations display abnormal muscle calcium currents.	Phase 2 - plateau phase	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0070296;sarcoplasmic reticulum calcium ion transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNG1	https://www.uniprot.org/uniprot/Q06432		https://www.ncbi.nlm.nih.gov/omim/?term=114209	http://www.informatics.jax.org/searchtool/Search.do?query=CACNG1&submit=Quick%0D%3789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG1	rs11322532	0.577276	0	0	1	0	0	intronic	intronic	intronic	CACNG1	CACNG1	ENSG00000108878	Na	Na	Na	Na	Na	Na	Het;-A	224;15|9	Hom;-A	884;0|25
N	N	-	17	65051180	65051180	A	G	snp	intronic	 	 	 	 	CACNG1	Cacng1	ENSG00000108878	calcium voltage-gated channel auxiliary subunit gamma 1	chr17:65040706-65052909	Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]	HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for null mutations display abnormal muscle calcium currents.	Phase 2 - plateau phase	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0070296;sarcoplasmic reticulum calcium ion transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CACNG1	https://www.uniprot.org/uniprot/Q06432		https://www.ncbi.nlm.nih.gov/omim/?term=114209	http://www.informatics.jax.org/searchtool/Search.do?query=CACNG1&submit=Quick%0D%3789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG1	rs2363844	0.717053	0.6060	0.6470	1	0	0	intronic	intronic	intronic	CACNG1	CACNG1	ENSG00000108878	Na	Na	Na	Na	Na	Na	Het;A>G	1313;52|55	Hom;A>G	3008;1|110
N	N	-	17	65074354	65074354	G	GA	indel	UTR3	*14C>TC	 	 	 	HELZ	Helz	ENSG00000198265	helicase with zinc finger	chr17:65066554-65242105	HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]	multiple sclerosis; Insulin Resistance; Body Mass Index; Body Weight	Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects.			GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ			https://www.ncbi.nlm.nih.gov/omim/?term=606699	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ&submit=Quick%0D%16858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ	rs35467630	0.378594	0.2407	0.3769	1	0	0	UTR3	UTR3	UTR3	HELZ(NM_014877:c.*14C>TC)	HELZ(uc002jfx.4:c.*14C>TC,uc010wqk.2:c.*14C>TC)	ENSG00000198265(ENST00000358691:c.*14C>TC,ENST00000579953:c.*2510C>TC,ENST00000580168:c.*14C>TC)	Na	Na	Na	Na	Na	Na	Het;+A	240;20|14	Hom;+A	816;1|32
N	N	-	17	65104666	65104666	T	G	snp	synonymous SNV	A298C	R100R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	HELZ	Helz	ENSG00000198265	helicase with zinc finger	chr17:65066554-65242105	HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]	multiple sclerosis; Insulin Resistance; Body Mass Index; Body Weight	Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects.			GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ			https://www.ncbi.nlm.nih.gov/omim/?term=606699	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ&submit=Quick%0D%16858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ	rs11657929	0.71865	0.5632	0.6049	1	0	0	exonic	exonic	exonic	HELZ	HELZ	ENSG00000198265	synonymous SNV	synonymous SNV	unknown	HELZ:NM_014877:exon30:c.A4666C:p.R1556R,	HELZ:uc010der.3:exon2:c.A298C:p.R100R,HELZ:uc010wqk.2:exon30:c.A4669C:p.R1557R,HELZ:uc002jfx.4:exon30:c.A4666C:p.R1556R,	UNKNOWN	Het;T>G	619;32|30	Hom;T>G	2286;0|87
N	N	-	17	65116491	65116491	T	C	snp	intronic	 	 	 	 	HELZ	Helz	ENSG00000198265	helicase with zinc finger	chr17:65066554-65242105	HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]	multiple sclerosis; Insulin Resistance; Body Mass Index; Body Weight	Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects.			GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ			https://www.ncbi.nlm.nih.gov/omim/?term=606699	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ&submit=Quick%0D%16858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ	rs12709454	0.869609	0.7786	0.7817	1	0	0	intronic	intronic	intronic	HELZ	HELZ	ENSG00000198265	Na	Na	Na	Na	Na	Na	Het;T>C	296;29|14	Hom;T>C	1192;0|36
N	N	-	17	65156919	65156919	G	C	snp	intronic	 	 	 	 	HELZ	Helz	ENSG00000198265	helicase with zinc finger	chr17:65066554-65242105	HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]	multiple sclerosis; Insulin Resistance; Body Mass Index; Body Weight	Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects.			GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ			https://www.ncbi.nlm.nih.gov/omim/?term=606699	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ&submit=Quick%0D%16858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ	rs1035176	0.609625	0	0	1	0	0	intronic	intronic	intronic	HELZ	HELZ	ENSG00000198265	Na	Na	Na	Na	Na	Na	Het;G>C	175;7|6	Hom;G>C	404;0|12
N	N	-	17	65632	65632	C	T	snp	intronic	 	 	 	 	RPH3AL	Rph3al	ENSG00000282013	rabphilin 3A like (without C2 domains)	chr17:62293-236045	The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Calcium; Colorectal Neoplasms; Asthma; Parkinson Disease	Mice homozygous for a knock-out allele exhibit disregulation of exocytosis in both endocrine and exocrine cells.		GO:0006886;intracellular protein transport;IEA|GO:0017157;regulation of exocytosis;IEA	GO:0005622;intracellular;IEA	GO:0017137;Rab GTPase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPH3AL			https://www.ncbi.nlm.nih.gov/omim/?term=604881	http://www.informatics.jax.org/searchtool/Search.do?query=RPH3AL&submit=Quick%0D%22379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3AL	rs7207457	0.51877	0.3753	0.4682	1	0	0	intronic	intronic	intronic	RPH3AL	RPH3AL	ENSG00000181031	Na	Na	Na	Na	Na	Na	Het;C>T	588;35|30	Hom;C>T	1154;0|44
N	N	-	17	65732959	65732959	A	G	snp	intronic	 	 	 	 	NOL11	Nol11	ENSG00000130935	nucleolar protein 11	chr17:65713949-65740647			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0030490;maturation of SSU-rRNA;IMP|GO:0042254;ribosome biogenesis;IEA|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0034455;t-UTP complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NOL11	https://www.uniprot.org/uniprot/Q9H8H0		https://www.ncbi.nlm.nih.gov/omim/?term=615366	http://www.informatics.jax.org/searchtool/Search.do?query=NOL11&submit=Quick%0D%6463ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOL11	rs7223990	0.738818	0	0	1	0	0	intronic	intronic	intronic	NOL11	NOL11	ENSG00000130935	Na	Na	Na	Na	Na	Na	Het;A>G	118;2|5	Hom;A>G	494;0|13
N	N	-	17	66147549	66147549	G	C	snp	ncRNA_intronic	 	 	 	 	LRRC37A16P																		rs73338755	0.249401	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00674(dist=15479),LOC440461(dist=47252)	LINC00674(dist=15479),LOC440461(dist=47252)	ENSG00000267023	Na	Na	Na	Na	Na	Na	Het;G>C	711;22|29	Hom;G>C	2080;1|49
N	N	-	17	66547249	66547249	G	A	snp	nonsynonymous SNV	G998A	S333N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRKAR1A	Prkar1a	ENSG00000108946	protein kinase cAMP-dependent type I regulatory subunit alpha	chr17:66507921-66547460	cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]	Multiple Endocrine Neoplasia Type 1|Pituitary ACTH Hypersecretion|Pituitary Neoplasms; Adenoma|Adrenal Cortex Neoplasms|Cushing Syndrome; Adrenal Cortex Diseases|Myxoma; thyroid cancer	Mice homozygous for a null allele exhibit embryonic lethality during organogenesis due to developmental patterning defects.  Mice heterozygous for a null allele exhibit background sensitive infertility and increased tumor incidence.	Factors involved in megakaryocyte development and platelet production	GO:0001707;mesoderm formation;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0003091;renal water homeostasis;TAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0007143;female meiotic division;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0016310;phosphorylation;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;TAS|GO:0045214;sarcomere organization;IEA|GO:0045835;negative regulation of meiotic nuclear division;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0046007;negative regulation of activated T cell proliferation;IMP|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:2000480;negative regulation of cAMP-dependent protein kinase activity;IDA	GO:0001772;immunological synapse;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005952;cAMP-dependent protein kinase complex;IEA|GO:0016020;membrane;IDA|GO:0031588;nucleotide-activated protein kinase complex;IDA|GO:0031594;neuromuscular junction;IEA|GO:0043234;protein complex;IDA|GO:0044853;plasma membrane raft;IDA|GO:0097546;ciliary base;TAS	GO:0000166;nucleotide binding;IEA|GO:0004862;cAMP-dependent protein kinase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0008603;cAMP-dependent protein kinase regulator activity;TAS|GO:0016301;kinase activity;IEA|GO:0030552;cAMP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0034236;protein kinase A catalytic subunit binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRKAR1A	https://www.uniprot.org/uniprot/P10644	https://hpo.jax.org/app/browse/search?q=PRKAR1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188830	http://www.informatics.jax.org/searchtool/Search.do?query=PRKAR1A&submit=Quick%0D%3793ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAR1A	rs9789047	0.147963	0	0.1521	0.40	2	5	exonic	exonic	exonic	PRKAR1A	PRKAR1A	ENSG00000108946	nonsynonymous SNV	nonsynonymous SNV	unknown	PRKAR1A:NM_001276290:exon10:c.G998A:p.S333N,	PRKAR1A:uc031ref.1:exon10:c.G998A:p.S333N,	UNKNOWN	Het;G>A	635;43|35	Hom;G>A	2089;0|81
N	N	-	17	66673048	66673048	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01482																		rs11655211	0.355631	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01482	FAM20A(dist=75953),ABCA8(dist=190383)	ENSG00000267659	Na	Na	Na	Na	Na	Na	Het;C>T	35;1|2	Hom;C>T	477;0|18
N	N	-	17	66725479	66725479	G	A	snp	ncRNA_intronic	 	 	 	 	LINC01482																		rs55964641	0.242812	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01482(dist=49732),ABCA8(dist=137949)	FAM20A(dist=128384),ABCA8(dist=137952)	ENSG00000267659	Na	Na	Na	Na	Na	Na	Het;G>A	585;35|30	Hom;G>A	1795;0|66
N	N	-	17	67047428	67047428	G	A	snp	intronic	 	 	 	 	ABCA9	Abca9	ENSG00000154258	ATP binding cassette subfamily A member 9	chr17:66970629-67057205	This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Stroke	 	ABC transporters in lipid homeostasis	GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA9	https://www.uniprot.org/uniprot/Q8IUA7		https://www.ncbi.nlm.nih.gov/omim/?term=612507	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA9&submit=Quick%0D%9749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA9	rs8067578	0.424521	0	0	1	0	0	intronic	intronic	intronic	ABCA9	ABCA9	ENSG00000154258	Na	Na	Na	Na	Na	Na	Het;G>A	45;5|3	Hom;G>A	45;0|2
N	N	-	17	67082962	67082962	C	G	snp	intronic	 	 	 	 	ABCA6	Abca6	ENSG00000154262	ATP binding cassette subfamily A member 6	chr17:67074843-67138029	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]	lung cancer ; lung cancer; chronic obstructive pulmonary disease; drug-related genes ; bladder cancer; Tobacco Use Disorder	 	ABC transporters in lipid homeostasis	GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0055085;transmembrane transport;IEA	GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA6	https://www.uniprot.org/uniprot/Q8N139		https://www.ncbi.nlm.nih.gov/omim/?term=612504	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA6&submit=Quick%0D%9750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA6	rs740516	0.207069	0	0	1	0	0	intronic	intronic	intronic	ABCA6	ABCA6	ENSG00000154262	Na	Na	Na	Na	Na	Na	Het;C>G	486;23|23	Hom;C>G	1397;0|45
N	N	-	17	67519958	67519958	G	A	snp	intronic	 	 	 	 	MAP2K6	Map2k6	ENSG00000108984	mitogen-activated protein kinase kinase 6	chr17:67410839-67539472	This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]	Huntington Disease; Heart Rate; Arthritis, Rheumatoid|Rheumatoid Arthritis; Socioeconomic Factors; Type 2 Diabetes| edema | rosiglitazone; Blood Flow Velocity	Mice homozygous for null targeted mutations of this gene are viable, grow normally and have no gross physical or histologic abnormalities.	PI5P Regulates TP53 Acetylation	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002931;response to ischemia;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006975;DNA damage induced protein phosphorylation;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0022602;ovulation cycle process;IEA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042493;response to drug;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;IEA|GO:0060048;cardiac muscle contraction;IEA|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0072709;cellular response to sorbitol;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K6	https://www.uniprot.org/uniprot/P52564		https://www.ncbi.nlm.nih.gov/omim/?term=601254	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K6&submit=Quick%0D%3800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K6	rs2521356	0.621206	0	0	1	0	0	intronic	intronic	intronic	MAP2K6	MAP2K6	ENSG00000108984	Na	Na	Na	Na	Na	Na	Het;G>A	162;2|6	Hom;G>A	93;0|4
N	N	-	17	67522919	67522919	C	T	snp	intronic	 	 	 	 	MAP2K6	Map2k6	ENSG00000108984	mitogen-activated protein kinase kinase 6	chr17:67410839-67539472	This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]	Huntington Disease; Heart Rate; Arthritis, Rheumatoid|Rheumatoid Arthritis; Socioeconomic Factors; Type 2 Diabetes| edema | rosiglitazone; Blood Flow Velocity	Mice homozygous for null targeted mutations of this gene are viable, grow normally and have no gross physical or histologic abnormalities.	PI5P Regulates TP53 Acetylation	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002931;response to ischemia;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006975;DNA damage induced protein phosphorylation;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0022602;ovulation cycle process;IEA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042493;response to drug;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;IEA|GO:0060048;cardiac muscle contraction;IEA|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0072709;cellular response to sorbitol;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K6	https://www.uniprot.org/uniprot/P52564		https://www.ncbi.nlm.nih.gov/omim/?term=601254	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K6&submit=Quick%0D%3800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K6	rs2074030	0.564297	0	0	1	0	0	intronic	intronic	intronic	MAP2K6	MAP2K6	ENSG00000108984	Na	Na	Na	Na	Na	Na	Het;C>T	293;13|13	Hom;C>T	432;0|17
N	N	-	17	686589	686589	C	CT	indel	intronic	 	 	 	 	RNMTL1	 																	rs35144249	0.552316	0.5266	0.5062	1	0	0	intronic	intronic	intronic	RNMTL1	RNMTL1	ENSG00000171861	Na	Na	Na	Na	Na	Na	Het;+T	128;5|8	Hom;+T	354;1|17
N	N	-	17	68676243	68676243	C	G	snp	intergenic	 	 	 	 	AC005771.1																		rs9904530	0.324281	0	0	1	0	0	intergenic	intergenic	intergenic	KCNJ2(dist=500060),CASC17(dist=417672)	KCNJ2(dist=500060),BC039327(dist=417672)	ENSG00000267471(dist=50837),ENSG00000271239(dist=98502)	Na	Na	Na	Na	Na	Na	Het;C>G	142;7|7	Hom;C>G	404;0|14
N	N	-	17	7011144	7011144	G	A	snp	synonymous SNV	C363T	A121A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ASGR2	Asgr2	ENSG00000161944	asialoglycoprotein receptor 2	chr17:7004641-7019019	This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		Homozygous mutation of this gene results in reduced ASGR1 protein expression and deficiency in clearance of asialoorsomucoid.	Asparagine N-linked glycosylation	GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0009100;glycoprotein metabolic process;IEA|GO:0018279;protein N-linked glycosylation via asparagine;TAS|GO:0030282;bone mineralization;IEA|GO:0031647;regulation of protein stability;IEA|GO:0055088;lipid homeostasis;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004873;asialoglycoprotein receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASGR2			https://www.ncbi.nlm.nih.gov/omim/?term=108361	http://www.informatics.jax.org/searchtool/Search.do?query=ASGR2&submit=Quick%0D%10627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASGR2	rs62058755	0.294928	0.3402	0.3576	1	0	0	intronic	exonic	intronic	ASGR2	ASGR2	ENSG00000161944	Na	synonymous SNV	Na	Na	ASGR2:uc010clw.2:exon5:c.C363T:p.A121A,	Na	Het;G>A	490;27|24	Hom;G>A	2094;0|62
N	N	-	17	7011344	7011344	G	T	snp	intronic	 	 	 	 	ASGR2	Asgr2	ENSG00000161944	asialoglycoprotein receptor 2	chr17:7004641-7019019	This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		Homozygous mutation of this gene results in reduced ASGR1 protein expression and deficiency in clearance of asialoorsomucoid.	Asparagine N-linked glycosylation	GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0009100;glycoprotein metabolic process;IEA|GO:0018279;protein N-linked glycosylation via asparagine;TAS|GO:0030282;bone mineralization;IEA|GO:0031647;regulation of protein stability;IEA|GO:0055088;lipid homeostasis;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004873;asialoglycoprotein receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASGR2			https://www.ncbi.nlm.nih.gov/omim/?term=108361	http://www.informatics.jax.org/searchtool/Search.do?query=ASGR2&submit=Quick%0D%10627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASGR2	rs417927	0.475839	0	0	1	0	0	intronic	intronic	intronic	ASGR2	ASGR2	ENSG00000161944	Na	Na	Na	Na	Na	Na	Het;G>T	117;1|4	Hom;G>T	185;0|5
N	N	-	17	7011349	7011349	A	C	snp	intronic	 	 	 	 	ASGR2	Asgr2	ENSG00000161944	asialoglycoprotein receptor 2	chr17:7004641-7019019	This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		Homozygous mutation of this gene results in reduced ASGR1 protein expression and deficiency in clearance of asialoorsomucoid.	Asparagine N-linked glycosylation	GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0009100;glycoprotein metabolic process;IEA|GO:0018279;protein N-linked glycosylation via asparagine;TAS|GO:0030282;bone mineralization;IEA|GO:0031647;regulation of protein stability;IEA|GO:0055088;lipid homeostasis;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004873;asialoglycoprotein receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASGR2			https://www.ncbi.nlm.nih.gov/omim/?term=108361	http://www.informatics.jax.org/searchtool/Search.do?query=ASGR2&submit=Quick%0D%10627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASGR2	rs434325	0.533347	0	0	1	0	0	intronic	intronic	intronic	ASGR2	ASGR2	ENSG00000161944	Na	Na	Na	Na	Na	Na	Het;A>C	117;1|3	Hom;A>C	152;0|4
N	N	-	17	70636568	70636568	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00511																		rs56342858	0.372604	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00511	LINC00511	ENSG00000227036	Na	Na	Na	Na	Na	Na	Het;A>G	1112;90|57	Hom;A>G	2216;1|84
N	N	-	17	70636647	70636647	T	C	snp	upstream	 	 	 	 	LINC00511																		rs111800738	0.326877	0	0	1	0	0	upstream	upstream	upstream	LINC00511	LINC00511	ENSG00000227036	Na	Na	Na	Na	Na	Na	Het;T>C	552;37|21	Hom;T>C	1311;0|34
N	N	-	17	70636672	70636672	T	C	snp	upstream	 	 	 	 	LINC00511																		rs112860966	0.327476	0	0	1	0	0	upstream	upstream	upstream	LINC00511	LINC00511	ENSG00000227036	Na	Na	Na	Na	Na	Na	Het;T>C	367;19|10	Hom;T>C	962;0|22
N	N	-	17	71189182	71189182	A	G	snp	UTR5	-27A>G	 	 	 	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs3764359	0.525958	0.5379	0.5277	1	0	0	UTR5	UTR5	ncRNA_intronic	COG1(NM_018714:c.-27A>G)	COG1(uc002jjf.1:c.-27A>G,uc002jjg.3:c.-27A>G,uc002jjh.3:c.-27A>G)	ENSG00000264860	Na	Na	Na	Na	Na	Na	Het;A>G	196;13|9	Hom;A>G	934;0|33
N	N	-	17	71192663	71192663	G	A	snp	synonymous SNV	G333A	Q111Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1052706	0.449481	0.4468	0.4969	1	0	0	exonic	exonic	exonic	COG1	COG1	ENSG00000166685	synonymous SNV	synonymous SNV	unknown	COG1:NM_018714:exon2:c.G333A:p.Q111Q,	COG1:uc002jjg.3:exon2:c.G333A:p.Q111Q,COG1:uc002jjh.3:exon2:c.G333A:p.Q111Q,COG1:uc002jjf.1:exon2:c.G333A:p.Q111Q,	UNKNOWN	Het;G>A	480;25|22	Hom;G>A	1724;0|61
N	N	-	17	71192873	71192873	A	G	snp	synonymous SNV	A543G	A181A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs11544800	0.451278	0.4487	0.5013	1	0	0	exonic	exonic	exonic	COG1	COG1	ENSG00000166685	synonymous SNV	synonymous SNV	unknown	COG1:NM_018714:exon2:c.A543G:p.A181A,	COG1:uc002jjg.3:exon2:c.A543G:p.A181A,COG1:uc002jjh.3:exon2:c.A543G:p.A181A,COG1:uc002jjf.1:exon2:c.A543G:p.A181A,	UNKNOWN	Het;A>G	1399;100|70	Hom;A>G	3189;0|120
N	N	-	17	71192955	71192955	C	T	snp	intronic	 	 	 	 	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1010442	0.523962	0	0	1	0	0	intronic	intronic	intronic	COG1	COG1	ENSG00000166685	Na	Na	Na	Na	Na	Na	Het;C>T	1115;89|61	Hom;C>T	2624;0|95
N	N	-	17	71193594	71193594	G	A	snp	intronic	 	 	 	 	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs7221701	0.521565	0	0	1	0	0	intronic	intronic	intronic	COG1	COG1	ENSG00000166685	Na	Na	Na	Na	Na	Na	Het;G>A	224;13|11	Hom;G>A	535;0|19
N	N	-	17	71195833	71195833	T	C	snp	intronic	 	 	 	 	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1009111	0.525958	0	0	1	0	0	intronic	intronic	intronic	COG1	COG1	ENSG00000166685	Na	Na	Na	Na	Na	Na	Het;T>C	87;1|3	Hom;T>C	137;0|4
N	N	-	17	71195949	71195949	C	T	snp	intronic	 	 	 	 	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1009110	0.525958	0	0	1	0	0	intronic	intronic	intronic	COG1	COG1	ENSG00000166685	Na	Na	Na	Na	Na	Na	Het;C>T	76;13|5	Hom;C>T	795;0|28
N	N	-	17	71196809	71196809	A	G	snp	nonsynonymous SNV	A1175G	N392S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1026128	0.520966	0.5321	0.5231	0.08	1	13	exonic	exonic	exonic	COG1	COG1	ENSG00000166685	nonsynonymous SNV	nonsynonymous SNV	unknown	COG1:NM_018714:exon6:c.A1175G:p.N392S,	COG1:uc002jjg.3:exon6:c.A1175G:p.N392S,COG1:uc002jjh.3:exon6:c.A1175G:p.N392S,COG1:uc002jjf.1:exon6:c.A1175G:p.N392S,	UNKNOWN	Het;A>G	1430;84|66	Hom;A>G	5169;0|185
N	N	-	17	71196995	71196995	G	A	snp	intronic	 	 	 	 	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1026129	0.520966	0	0	1	0	0	intronic	intronic	intronic	COG1	COG1	ENSG00000166685	Na	Na	Na	Na	Na	Na	Het;G>A	185;10|10	Hom;G>A	721;0|27
N	N	-	17	71197748	71197748	G	A	snp	synonymous SNV	G1782A	E594E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1037256	0.525359	0.5351	0.5235	1	0	0	exonic	exonic	exonic	COG1	COG1	ENSG00000166685	synonymous SNV	synonymous SNV	unknown	COG1:NM_018714:exon7:c.G1782A:p.E594E,	COG1:uc002jjg.3:exon7:c.G1782A:p.E594E,COG1:uc002jjh.3:exon7:c.G1782A:p.E594E,COG1:uc002jjf.1:exon7:c.G1782A:p.E594E,	UNKNOWN	Het;G>A	1951;108|90	Hom;G>A	4433;0|156
N	N	-	17	71205854	71205854	A	G	snp	nonsynonymous SNV	T275C	I92T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	FAM104A	Fam104a	ENSG00000133193	family with sequence similarity 104 member A	chr17:71203492-71232892			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM104A	https://www.uniprot.org/uniprot/Q969W3			http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A	rs8387	0.576078	0.6217	0.5853	0.50	2	4	exonic	exonic	exonic	FAM104A	FAM104A	ENSG00000133193	nonsynonymous SNV	synonymous SNV	unknown	FAM104A:NM_001289410:exon2:c.T275C:p.I92T,FAM104A:NM_001289411:exon3:c.T293C:p.I98T,	FAM104A:uc002jjj.4:exon4:c.T438C:p.N146N,FAM104A:uc002jji.4:exon3:c.T375C:p.N125N,	UNKNOWN	Het;A>G	711;37|32	Hom;A>G	1158;0|41
N	N	-	17	71223837	71223837	C	T	snp	UTR5	-43G>A	 	 	 	FAM104A	Fam104a	ENSG00000133193	family with sequence similarity 104 member A	chr17:71203492-71232892			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM104A	https://www.uniprot.org/uniprot/Q969W3			http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A	rs9904267	0.490415	0	0.5	1	0	0	UTR5	intronic	UTR5	FAM104A(NM_001289412:c.-43G>A)	FAM104A	ENSG00000133193(ENST00000579872:c.-43G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	836;35|43	Hom;C>T	2682;0|103
N	N	-	17	71228066	71228066	A	G	snp	intronic	 	 	 	 	FAM104A	Fam104a	ENSG00000133193	family with sequence similarity 104 member A	chr17:71203492-71232892			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM104A	https://www.uniprot.org/uniprot/Q969W3			http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A	rs3764362	0.522963	0	0	1	0	0	intronic	intronic	intronic	FAM104A	FAM104A	ENSG00000133193	Na	Na	Na	Na	Na	Na	Het;A>G	73;2|4	Hom;A>G	129;0|5
N	N	-	17	71228767	71228767	A	C	snp	UTR5	-2855A>C	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs3736364	0.526158	0	0	1	0	0	UTR5	intronic	UTR5	C17orf80(NM_017941:c.-2855A>C,NM_001100622:c.-2855A>C,NM_001100621:c.-2855A>C)	C17orf80	ENSG00000141219(ENST00000585109:c.-2855A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	648;43|34	Hom;A>C	2195;0|89
N	N	-	17	71228937	71228937	C	T	snp	UTR5	-2685C>T	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs1466115	0.496206	0	0	1	0	0	intronic	intronic	UTR5	C17orf80	C17orf80	ENSG00000141219(ENST00000582391:c.-2685C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	341;14|11	Hom;C>T	966;0|25
N	N	-	17	71228952	71228952	T	G	snp	UTR5	-2670T>G	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs1466116	0.527157	0	0	1	0	0	intronic	intronic	UTR5	C17orf80	C17orf80	ENSG00000141219(ENST00000582391:c.-2670T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	233;10|7	Hom;T>G	741;0|17
N	N	-	17	71229223	71229223	C	T	snp	UTR5	-2399C>T	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs1466117	0.458866	0	0	1	0	0	intronic	intronic	UTR5	C17orf80	C17orf80	ENSG00000141219(ENST00000582391:c.-2399C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	53;5|3	Hom;C>T	262;0|10
N	N	-	17	71229351	71229351	C	T	snp	UTR5	-2271C>T	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs1466118	0.532748	0	0	1	0	0	intronic	intronic	UTR5	C17orf80	C17orf80	ENSG00000141219(ENST00000582391:c.-2271C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	620;18|28	Hom;C>T	1137;0|40
N	N	-	17	71231604	71231604	A	C	snp	intronic	 	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs3751925	0.519968	0.5293	0.5315	1	0	0	intronic	intronic	intronic	C17orf80	C17orf80	ENSG00000141219	Na	Na	Na	Na	Na	Na	Het;A>C	282;22|15	Hom;A>C	939;0|31
N	N	-	17	71232687	71232687	T	C	snp	nonsynonymous SNV	T1066C	F356L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs745143	0.519369	0.5309	0.5234	0.15	2	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_001288770:exon3:c.T1066C:p.F356L,C17orf80:NM_017941:exon3:c.T1066C:p.F356L,C17orf80:NM_001100621:exon3:c.T1066C:p.F356L,C17orf80:NM_001288771:exon3:c.T1066C:p.F356L,C17orf80:NM_001100622:exon3:c.T1066C:p.F356L,	C17orf80:uc010wqu.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjk.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjm.4:exon3:c.T1066C:p.F356L,C17orf80:uc010dfj.3:exon3:c.T1066C:p.F356L,C17orf80:uc002jjl.4:exon3:c.T1066C:p.F356L,	UNKNOWN	Het;T>C	1995;107|88	Hom;T>C	5226;2|179
N	N	-	17	71232807	71232807	T	C	snp	nonsynonymous SNV	T1186C	C396R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs904383	0.522364	0.5335	0.5259	0.08	1	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_001288770:exon3:c.T1186C:p.C396R,C17orf80:NM_017941:exon3:c.T1186C:p.C396R,C17orf80:NM_001100621:exon3:c.T1186C:p.C396R,C17orf80:NM_001288771:exon3:c.T1186C:p.C396R,C17orf80:NM_001100622:exon3:c.T1186C:p.C396R,	C17orf80:uc010wqu.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjk.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjm.4:exon3:c.T1186C:p.C396R,C17orf80:uc010dfj.3:exon3:c.T1186C:p.C396R,C17orf80:uc002jjl.4:exon3:c.T1186C:p.C396R,	UNKNOWN	Het;T>C	978;56|48	Hom;T>C	4778;0|107
N	N	-	17	71232881	71232881	G	C	snp	nonsynonymous SNV	G1260C	Q420H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs745142	0.521765	0.5337	0.5259	0.15	2	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_001288770:exon3:c.G1260C:p.Q420H,C17orf80:NM_017941:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100621:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288771:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100622:exon3:c.G1260C:p.Q420H,	C17orf80:uc010wqu.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjk.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjm.4:exon3:c.G1260C:p.Q420H,C17orf80:uc010dfj.3:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjl.4:exon3:c.G1260C:p.Q420H,	UNKNOWN	Het;G>C	1110;53|50	Hom;G>C	2505;0|87
N	N	-	17	71233130	71233130	A	G	snp	synonymous SNV	A1509G	S503S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs11869253	0.519569	0.5378	0.5337	1	0	0	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	synonymous SNV	synonymous SNV	unknown	C17orf80:NM_001288770:exon3:c.A1509G:p.S503S,C17orf80:NM_017941:exon3:c.A1509G:p.S503S,C17orf80:NM_001100621:exon3:c.A1509G:p.S503S,C17orf80:NM_001288771:exon3:c.A1509G:p.S503S,C17orf80:NM_001100622:exon3:c.A1509G:p.S503S,	C17orf80:uc010wqu.1:exon3:c.A1509G:p.S503S,C17orf80:uc002jjk.1:exon3:c.A1509G:p.S503S,C17orf80:uc002jjm.4:exon3:c.A1509G:p.S503S,C17orf80:uc010dfj.3:exon3:c.A1509G:p.S503S,C17orf80:uc002jjl.4:exon3:c.A1509G:p.S503S,	UNKNOWN	Het;A>G	603;59|30	Hom;A>G	3012;0|112
N	N	-	17	71238433	71238433	G	A	snp	nonsynonymous SNV	G1564A	A522T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs1566286	0.515974	0.5264	0.5217	0.15	2	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_017941:exon4:c.G1564A:p.A522T,C17orf80:NM_001100622:exon4:c.G1564A:p.A522T,	C17orf80:uc002jjk.1:exon4:c.G1564A:p.A522T,C17orf80:uc002jjm.4:exon4:c.G1564A:p.A522T,	UNKNOWN	Het;G>A	567;27|28	Hom;G>A	2369;0|92
N	N	-	17	71238525	71238525	A	G	snp	intronic	 	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs1566287	0.515974	0.5261	0.5219	1	0	0	intronic	intronic	intronic	C17orf80	C17orf80	ENSG00000141219	Na	Na	Na	Na	Na	Na	Het;A>G	531;35|28	Hom;A>G	2456;0|91
N	N	-	17	71238649	71238649	T	TC	indel	intronic	 	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs5821951	0.515974	0	0	1	0	0	intronic	intronic	intronic	C17orf80	C17orf80	ENSG00000141219	Na	Na	Na	Na	Na	Na	Het;+C	166;7|6	Hom;+C	246;0|7
N	N	-	17	71239000	71239000	T	C	snp	intronic	 	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs2270726	0.515974	0.5268	0.5384	1	0	0	intronic	intronic	intronic	C17orf80	C17orf80	ENSG00000141219	Na	Na	Na	Na	Na	Na	Het;T>C	1751;32|42	Hom;T>C	1409;0|50
N	N	-	17	71239016	71239016	C	T	snp	intronic	 	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs2270727	0.516174	0.5264	0.5382	1	0	0	intronic	intronic	intronic	C17orf80	C17orf80	ENSG00000141219	Na	Na	Na	Na	Na	Na	Het;C>T	1879;32|52	Hom;C>T	1980;0|75
N	N	-	17	71239190	71239190	A	T	snp	intronic	 	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs2270728	0.516573	0.5248	0.5344	1	0	0	intronic	intronic	intronic	C17orf80	C17orf80	ENSG00000141219	Na	Na	Na	Na	Na	Na	Het;A>T	512;9|17	Hom;A>T	791;0|22
N	N	-	17	71239214	71239216	GAA	G	indel	intronic	 	 	 	 	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs138600770	0	0	0.5726	1	0	0	intronic	intronic	intronic	C17orf80	C17orf80	ENSG00000141219	Na	Na	Na	Na	Na	Na	Het;-AA	203;4|6	Hom;-AA	483;0|11
N	N	-	17	71395173	71395173	G	A	snp	intronic	 	 	 	 	SDK2	Sdk2	ENSG00000069188	sidekick cell adhesion molecule 2	chr17:71330523-71640228	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]	Blood Cells; Glucose; Metabolism; Panic Disorder; Iron; Diabetes Mellitus; panic disorder	Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells.	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0010842;retina layer formation;IEA|GO:0045216;cell-cell junction organization;TAS|GO:0060219;camera-type eye photoreceptor cell differentiation;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SDK2	https://www.uniprot.org/uniprot/Q58EX2		https://www.ncbi.nlm.nih.gov/omim/?term=607217	http://www.informatics.jax.org/searchtool/Search.do?query=SDK2&submit=Quick%0D%1310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK2	rs10438701	0.439097	0	0	1	0	0	intronic	intronic	intronic	SDK2	SDK2	ENSG00000069188	Na	Na	Na	Na	Na	Na	Het;G>A	111;1|4	Hom;G>A	235;0|7
N	N	-	17	71397085	71397085	C	A	snp	intronic	 	 	 	 	SDK2	Sdk2	ENSG00000069188	sidekick cell adhesion molecule 2	chr17:71330523-71640228	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]	Blood Cells; Glucose; Metabolism; Panic Disorder; Iron; Diabetes Mellitus; panic disorder	Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells.	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0010842;retina layer formation;IEA|GO:0045216;cell-cell junction organization;TAS|GO:0060219;camera-type eye photoreceptor cell differentiation;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SDK2	https://www.uniprot.org/uniprot/Q58EX2		https://www.ncbi.nlm.nih.gov/omim/?term=607217	http://www.informatics.jax.org/searchtool/Search.do?query=SDK2&submit=Quick%0D%1310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK2	rs7221062	0.433906	0	0	1	0	0	intronic	intronic	intronic	SDK2	SDK2	ENSG00000069188	Na	Na	Na	Na	Na	Na	Het;C>A	233;8|12	Hom;C>A	886;0|33
N	N	-	17	71397375	71397375	T	G	snp	intronic	 	 	 	 	SDK2	Sdk2	ENSG00000069188	sidekick cell adhesion molecule 2	chr17:71330523-71640228	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]	Blood Cells; Glucose; Metabolism; Panic Disorder; Iron; Diabetes Mellitus; panic disorder	Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells.	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0010842;retina layer formation;IEA|GO:0045216;cell-cell junction organization;TAS|GO:0060219;camera-type eye photoreceptor cell differentiation;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SDK2	https://www.uniprot.org/uniprot/Q58EX2		https://www.ncbi.nlm.nih.gov/omim/?term=607217	http://www.informatics.jax.org/searchtool/Search.do?query=SDK2&submit=Quick%0D%1310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK2	rs7226251	0.433706	0.6136	0.5572	1	0	0	intronic	intronic	intronic	SDK2	SDK2	ENSG00000069188	Na	Na	Na	Na	Na	Na	Het;T>G	1733;63|76	Hom;T>G	3201;0|119
N	N	-	17	71469476	71469476	G	A	snp	intronic	 	 	 	 	SDK2	Sdk2	ENSG00000069188	sidekick cell adhesion molecule 2	chr17:71330523-71640228	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]	Blood Cells; Glucose; Metabolism; Panic Disorder; Iron; Diabetes Mellitus; panic disorder	Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells.	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0010842;retina layer formation;IEA|GO:0045216;cell-cell junction organization;TAS|GO:0060219;camera-type eye photoreceptor cell differentiation;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SDK2	https://www.uniprot.org/uniprot/Q58EX2		https://www.ncbi.nlm.nih.gov/omim/?term=607217	http://www.informatics.jax.org/searchtool/Search.do?query=SDK2&submit=Quick%0D%1310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK2	rs34391516	0.0890575	0	0	1	0	0	intronic	intronic	intronic	SDK2	SDK2	ENSG00000069188	Na	Na	Na	Na	Na	Na	Het;G>A	39;4|3	Hom;G>A	213;0|8
N	N	-	17	7158258	7158259	GT	G	indel	intronic	 	 	 	 	ELP5	Elp5	ENSG00000170291	elongator acetyltransferase complex subunit 5	chr17:7154735-7163259			 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030335;positive regulation of cell migration;ISS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0033588;Elongator holoenzyme complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ELP5			https://www.ncbi.nlm.nih.gov/omim/?term=615019	http://www.informatics.jax.org/searchtool/Search.do?query=ELP5&submit=Quick%0D%12670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELP5	rs55999520	0	0	0	1	0	0	intronic	intronic	intronic	ELP5	ELP5	ENSG00000170291,ENSG00000262302	Na	Na	Na	Na	Na	Na	Het;-T	42;2|5	Hom;-T	98;0|6
N	N	-	17	71640085	71640085	G	A	snp	intronic	 	 	 	 	SDK2	Sdk2	ENSG00000069188	sidekick cell adhesion molecule 2	chr17:71330523-71640228	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]	Blood Cells; Glucose; Metabolism; Panic Disorder; Iron; Diabetes Mellitus; panic disorder	Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells.	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0010842;retina layer formation;IEA|GO:0045216;cell-cell junction organization;TAS|GO:0060219;camera-type eye photoreceptor cell differentiation;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SDK2	https://www.uniprot.org/uniprot/Q58EX2		https://www.ncbi.nlm.nih.gov/omim/?term=607217	http://www.informatics.jax.org/searchtool/Search.do?query=SDK2&submit=Quick%0D%1310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK2	rs62063643	0.18151	0	0	1	0	0	intronic	intronic	intronic	SDK2	SDK2	ENSG00000069188	Na	Na	Na	Na	Na	Na	Het;G>A	198;10|10	Hom;G>A	767;0|28
N	N	-	17	71744761	71744761	T	G	snp	downstream	 	 	 	 	LINC00469																		rs2620030	0.586262	0	0	1	0	0	intronic	downstream	ncRNA_intronic	LOC100134391	LINC00469	ENSG00000263574	Na	Na	Na	Na	Na	Na	Het;T>G	47;3|2	Hom;T>G	71;0|4
N	N	-	17	71970002	71970003	GC	G	indel	intergenic	 	 	 	 	AC137735.1																		rs11299519	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00469(dist=145326),RPL38(dist=229792)	LINC00469(dist=145326),RPL38(dist=229792)	ENSG00000266765(dist=61985),ENSG00000266357(dist=69588)	Na	Na	Na	Na	Na	Na	Het;-C	549;31|24	Hom;-C	1674;0|56
N	N	-	17	7228469	7228471	GCC	G	indel	intronic	 	 	 	 	NEURL4	Neurl4	ENSG00000215041	neuralized E3 ubiquitin protein ligase 4	chr17:7218947-7232712	The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]		 			GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NEURL4			https://www.ncbi.nlm.nih.gov/omim/?term=615865	http://www.informatics.jax.org/searchtool/Search.do?query=NEURL4&submit=Quick%0D%18302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL4	rs57003369	0	0	0	1	0	0	intronic	intronic	intronic	NEURL4	NEURL4	ENSG00000215041	Na	Na	Na	Na	Na	Na	Het;-CC	212;1|6	Hom;-CC	368;0|9
N	N	-	17	7228479	7228479	C	T	snp	intronic	 	 	 	 	NEURL4	Neurl4	ENSG00000215041	neuralized E3 ubiquitin protein ligase 4	chr17:7218947-7232712	The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]		 			GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NEURL4			https://www.ncbi.nlm.nih.gov/omim/?term=615865	http://www.informatics.jax.org/searchtool/Search.do?query=NEURL4&submit=Quick%0D%18302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL4	rs201566486	0.45647	0.1035	0.6009	1	0	0	intronic	intronic	intronic	NEURL4	NEURL4	ENSG00000215041	Na	Na	Na	Na	Na	Na	Het;C>T	254;1|7	Hom;C>T	377;0|9
N	N	-	17	72285659	72285660	CA	C	indel	intronic	 	 	 	 	DNAI2	Dnaic2	ENSG00000171595	dynein axonemal intermediate chain 2	chr17:72270386-72311023	The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]	Tobacco Use Disorder	Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and immotile respiratory cilia.		GO:0003341;cilium movement;IMP|GO:0007368;determination of left/right symmetry;IMP|GO:0030030;cell projection organization;IEA|GO:0036158;outer dynein arm assembly;IMP|GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IMP|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0030286;dynein complex;IEA|GO:0036126;sperm flagellum;IDA|GO:0036157;outer dynein arm;IMP|GO:0042995;cell projection;IEA	GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNAI2		https://hpo.jax.org/app/browse/search?q=DNAI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605483	http://www.informatics.jax.org/searchtool/Search.do?query=DNAI2&submit=Quick%0D%12969ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAI2	rs35604335	0	0	0	1	0	0	intronic	intronic	intronic	DNAI2	DNAI2	ENSG00000171595	Na	Na	Na	Na	Na	Na	Het;-A	826;6|44	Hom;-A	593;4|35
N	N	-	17	72348810	72348810	A	C	snp	intronic	 	 	 	 	KIF19	Kif19a	ENSG00000196169	kinesin family member 19	chr17:72322349-72351959		Tobacco Use Disorder	Mice homozygous for a null mutation display partial postnatal lethality, hydroencephaly, female infertility, oviduct obstruction, increased motile cilium length and impaired motile cilium movement.	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0060404;axonemal microtubule depolymerization;IEA|GO:0070462;plus-end specific microtubule depolymerization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF19				http://www.informatics.jax.org/searchtool/Search.do?query=KIF19&submit=Quick%0D%16277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF19	rs1814832	0.840655	0	0	1	0	0	intronic	intronic	intronic	KIF19	KIF19	ENSG00000196169	Na	Na	Na	Na	Na	Na	Het;A>C	31;2|2	Hom;A>C	165;0|5
N	N	-	17	7239911	7239911	A	G	snp	UTR5	-143A>G	 	 	 	ACAP1	Acap1	ENSG00000072818	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	chr17:7239848-7254797		Tobacco Use Disorder; longevity	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005768;endosome;IEA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055038;recycling endosome membrane;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAP1	https://www.uniprot.org/uniprot/Q15027		https://www.ncbi.nlm.nih.gov/omim/?term=607763	http://www.informatics.jax.org/searchtool/Search.do?query=ACAP1&submit=Quick%0D%1449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAP1	rs3809827	0.404952	0	0	1	0	0	UTR5	UTR5	UTR5	ACAP1(NM_014716:c.-143A>G)	ACAP1(uc002ggd.2:c.-143A>G)	ENSG00000072818(ENST00000158762:c.-143A>G,ENST00000570457:c.-5467A>G,ENST00000575425:c.-5467A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	196;1|7	Hom;A>G	220;0|9
N	N	-	17	725869	725869	A	G	snp	intronic	 	 	 	 	NXN	Nxn	ENSG00000281300	nucleoredoxin	chr17:702553-883010	This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]	Bipolar Disorder	Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate.					http://www.genecards.org/index.php?path=/Search/keyword/NXN		https://hpo.jax.org/app/browse/search?q=NXN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612895	http://www.informatics.jax.org/searchtool/Search.do?query=NXN&submit=Quick%0D%22290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXN	rs656974	0.67472	0	0	1	0	0	intronic	intronic	intronic	NXN	NXN	ENSG00000167693	Na	Na	Na	Na	Na	Na	Het;A>G	60;5|3	Hom;A>G	125;0|4
N	N	-	17	72881436	72881436	C	CAA	indel	intronic	 	 	 	 	FADS6	Fads6	ENSG00000172782	fatty acid desaturase 6	chr17:72873428-72889708			 		GO:0006629;lipid metabolic process;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FADS6				http://www.informatics.jax.org/searchtool/Search.do?query=FADS6&submit=Quick%0D%13231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FADS6	rs35123092	0	0	0	1	0	0	intronic	intronic	intronic	FADS6	FADS6	ENSG00000172782	Na	Na	Na	Na	Na	Na	Het;+AA	430;2|17	Hom;+AA	433;0|12
N	N	-	17	73125173	73125173	A	G	snp	UTR3	*261A>G	 	 	 	ARMC7	Armc7	ENSG00000125449	armadillo repeat containing 7	chr17:73106047-73126360			 			GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016342;catenin complex;IBA	GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IBA|GO:0045294;alpha-catenin binding;IBA|GO:0045296;cadherin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ARMC7	https://www.uniprot.org/uniprot/Q9H6L4			http://www.informatics.jax.org/searchtool/Search.do?query=ARMC7&submit=Quick%0D%5775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC7	rs2291027	0.382588	0.4602	0.5461	1	0	0	UTR3	UTR3	UTR3	ARMC7(NM_024585:c.*40A>G,NM_001304271:c.*261A>G)	ARMC7(uc002jmw.1:c.*40A>G,uc010wru.1:c.*261A>G)	ENSG00000125449(ENST00000581078:c.*261A>G,ENST00000245543:c.*40A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	127;26|10	Hom;A>G	1283;0|45
N	N	-	17	73127683	73127683	T	C	snp	synonymous SNV	A120G	Q40Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NT5C	Nt5c	ENSG00000125458	5', 3'-nucleotidase, cytosolic	chr17:73126320-73127890	This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]	Acquired Immunodeficiency Syndrome|Disease Progression; pyrimidine 5' nucleotidase-I deficiency	 	Purine catabolism	GO:0006195;purine nucleotide catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009223;pyrimidine deoxyribonucleotide catabolic process;IDA|GO:0009264;deoxyribonucleotide catabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0046135;pyrimidine nucleoside catabolic process;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0008252;nucleotidase activity;IDA|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019103;pyrimidine nucleotide binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NT5C	https://www.uniprot.org/uniprot/Q8TCD5		https://www.ncbi.nlm.nih.gov/omim/?term=191720	http://www.informatics.jax.org/searchtool/Search.do?query=NT5C&submit=Quick%0D%5779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C	rs4788867	0.497404	0	0.6751	1	0	0	exonic	exonic	exonic	NT5C	NT5C	ENSG00000125458	synonymous SNV	synonymous SNV	unknown	NT5C:NM_001252377:exon1:c.A120G:p.Q40Q,NT5C:NM_014595:exon1:c.A120G:p.Q40Q,	NT5C:uc021ucw.1:exon1:c.A120G:p.Q40Q,NT5C:uc002jmx.3:exon1:c.A120G:p.Q40Q,	UNKNOWN	Het;T>C	131;5|8	Hom;T>C	120;0|6
N	N	-	17	7345819	7345819	A	AGGTAC	indel	ncRNA_intronic	 	 	 	 	AC113189.2																		rs4151129	0.322484	0	0	1	0	0	intronic	intronic	ncRNA_intronic	FGF11	FGF11	ENSG00000262880,ENSG00000263301,ENSG00000272884	Na	Na	Na	Na	Na	Na	Het;+GGTAC	206;3|6	Hom;+GGTAC	188;0|5
N	N	-	17	73565171	73565171	T	C	snp	nonsynonymous SNV	T1435C	F479L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LLGL2	Llgl2	ENSG00000073350	LLGL2, scribble cell polarity complex component	chr17:73521161-73571289	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke	Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of		GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LLGL2	https://www.uniprot.org/uniprot/Q6P1M3			http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2	rs1671021	0.464856	0.5344	0.3773	0.23	3	13	exonic	exonic	exonic	LLGL2	LLGL2	ENSG00000073350	nonsynonymous SNV	nonsynonymous SNV	unknown	LLGL2:NM_004524:exon13:c.T1435C:p.F479L,LLGL2:NM_001031803:exon13:c.T1435C:p.F479L,	LLGL2:uc010dgg.2:exon13:c.T1435C:p.F479L,LLGL2:uc010wsd.2:exon5:c.T316C:p.F106L,LLGL2:uc002joj.3:exon10:c.T1402C:p.F468L,LLGL2:uc002joh.3:exon13:c.T1435C:p.F479L,LLGL2:uc002joi.3:exon13:c.T1435C:p.F479L,	UNKNOWN	Het;T>C	1712;87|80	Hom;T>C	4009;1|139
N	N	-	17	73565510	73565510	T	G	snp	intronic	 	 	 	 	LLGL2	Llgl2	ENSG00000073350	LLGL2, scribble cell polarity complex component	chr17:73521161-73571289	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke	Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of		GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LLGL2	https://www.uniprot.org/uniprot/Q6P1M3			http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2	rs936059	0.427516	0	0	1	0	0	intronic	intronic	intronic	LLGL2	LLGL2	ENSG00000073350	Na	Na	Na	Na	Na	Na	Het;T>G	254;7|10	Hom;T>G	309;0|10
N	N	-	17	73567353	73567353	A	G	snp	intronic	 	 	 	 	LLGL2	Llgl2	ENSG00000073350	LLGL2, scribble cell polarity complex component	chr17:73521161-73571289	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke	Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of		GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LLGL2	https://www.uniprot.org/uniprot/Q6P1M3			http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2	rs936058	0.395168	0	0	1	0	0	intronic	intronic	intronic	LLGL2	LLGL2	ENSG00000073350	Na	Na	Na	Na	Na	Na	Het;A>G	164;10|6	Hom;A>G	131;0|4
N	N	-	17	73569010	73569010	T	C	snp	intronic	 	 	 	 	LLGL2	Llgl2	ENSG00000073350	LLGL2, scribble cell polarity complex component	chr17:73521161-73571289	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke	Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of		GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LLGL2	https://www.uniprot.org/uniprot/Q6P1M3			http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2	rs1661713	0.423123	0	0	1	0	0	intronic	intronic	intronic	LLGL2	LLGL2	ENSG00000073350	Na	Na	Na	Na	Na	Na	Het;T>C	44;2|2	Hom;T>C	296;0|10
N	N	-	17	73569776	73569776	C	CCT	indel	intronic	 	 	 	 	LLGL2	Llgl2	ENSG00000073350	LLGL2, scribble cell polarity complex component	chr17:73521161-73571289	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke	Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of		GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LLGL2	https://www.uniprot.org/uniprot/Q6P1M3			http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2	rs10648915	0.398163	0	0	1	0	0	intronic	intronic	intronic	LLGL2	LLGL2	ENSG00000073350	Na	Na	Na	Na	Na	Na	Het;+CT	587;16|16	Hom;+CT	1525;0|35
N	N	-	17	73569927	73569927	G	T	snp	intronic	 	 	 	 	LLGL2	Llgl2	ENSG00000073350	LLGL2, scribble cell polarity complex component	chr17:73521161-73571289	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke	Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of		GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LLGL2	https://www.uniprot.org/uniprot/Q6P1M3			http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2	rs1671019	0.398163	0	0	1	0	0	intronic	intronic	intronic	LLGL2	LLGL2	ENSG00000073350	Na	Na	Na	Na	Na	Na	Het;G>T	245;5|9	Hom;G>T	793;0|27
N	N	-	17	73571030	73571030	A	G	snp	UTR3	*43A>G	 	 	 	LLGL2	Llgl2	ENSG00000073350	LLGL2, scribble cell polarity complex component	chr17:73521161-73571289	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke	Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of		GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LLGL2	https://www.uniprot.org/uniprot/Q6P1M3			http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2	rs1042861	0.464657	0.5320	0.3733	1	0	0	UTR3	UTR3	UTR3	LLGL2(NM_004524:c.*43A>G,NM_001031803:c.*71A>G)	LLGL2(uc002joh.3:c.*71A>G,uc002joi.3:c.*43A>G,uc010dgg.2:c.*71A>G,uc002joj.3:c.*43A>G,uc010wsd.2:c.*71A>G)	ENSG00000073350(ENST00000167462:c.*43A>G,ENST00000392550:c.*71A>G,ENST00000578638:c.*1863A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1160;45|53	Hom;A>G	2401;0|89
N	N	-	17	73587784	73587784	A	G	snp	synonymous SNV	A207G	R69R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MYO15B	Myo15b	ENSG00000266714	myosin XVB	chr17:73584139-73622929			 			GO:0005856;cytoskeleton;IEA|GO:0005903;brush border;IEA|GO:0016459;myosin complex;IEA	GO:0003774;motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO15B				http://www.informatics.jax.org/searchtool/Search.do?query=MYO15B&submit=Quick%0D%20628ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO15B	rs936056	0.611821	0	0.6569	1	0	0	ncRNA_exonic	exonic	exonic	MYO15B	MYO15B	ENSG00000266714	Na	synonymous SNV	unknown	Na	MYO15B:uc002jon.1:exon3:c.A207G:p.R69R,	UNKNOWN	Het;A>G	1451;60|68	Hom;A>G	3819;0|147
N	N	-	17	73781075	73781076	GC	G	indel	intronic	 	 	 	 	UNK	Unk	ENSG00000132478	unkempt family zinc finger	chr17:73780681-73821886			 		GO:0001764;neuron migration;IEA|GO:0006417;regulation of translation;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IMP|GO:2000766;negative regulation of cytoplasmic translation;IMP	GO:0005737;cytoplasm;IEA|GO:0005844;polysome;IDA	GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:1990715;mRNA CDS binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UNK	https://www.uniprot.org/uniprot/Q9C0B0		https://www.ncbi.nlm.nih.gov/omim/?term=616375	http://www.informatics.jax.org/searchtool/Search.do?query=UNK&submit=Quick%0D%6683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNK	rs11335367	0.823083	0	0.2704	1	0	0	intronic	intronic	intronic	UNK	UNK	ENSG00000132475,ENSG00000132478	Na	Na	Na	Na	Na	Na	Het;-C	249;2|14	Hom;-C	288;1|13
N	N	-	17	7385174	7385174	G	C	snp	intronic	 	 	 	 	SLC35G6	Slc35g3	ENSG00000284515	solute carrier family 35 member G6	chr17:7384721-7386383		breast cancer 	 					http://www.genecards.org/index.php?path=/Search/keyword/SLC35G6				http://www.informatics.jax.org/searchtool/Search.do?query=SLC35G6&submit=Quick%0D%23047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35G6	rs8065577	0.746406	0	0	1	0	0	intronic	intronic	intronic	SLC35G6,ZBTB4	SLC35G6,ZBTB4	ENSG00000174282,ENSG00000259224	Na	Na	Na	Na	Na	Na	Het;G>C	260;3|8	Hom;G>C	407;0|12
N	N	-	17	7386279	7386279	T	C	snp	nonsynonymous SNV	T976C	W326R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	SLC35G6	Slc35g3	ENSG00000284515	solute carrier family 35 member G6	chr17:7384721-7386383		breast cancer 	 					http://www.genecards.org/index.php?path=/Search/keyword/SLC35G6				http://www.informatics.jax.org/searchtool/Search.do?query=SLC35G6&submit=Quick%0D%23047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35G6	rs7219992	0.747204	0	0.7466	0.17	2	12	exonic	exonic	exonic	SLC35G6	SLC35G6	ENSG00000259224	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC35G6:NM_001102614:exon2:c.T976C:p.W326R,	SLC35G6:uc010cmj.1:exon2:c.T976C:p.W326R,	UNKNOWN	Het;T>C	3432;119|91	Hom;T>C	5574;2|192
N	N	-	17	7386280	7386280	G	A	snp	stopgain	G977A	W326X	aromatic,hydrophobic,neutral	 	SLC35G6	Slc35g3	ENSG00000284515	solute carrier family 35 member G6	chr17:7384721-7386383		breast cancer 	 					http://www.genecards.org/index.php?path=/Search/keyword/SLC35G6				http://www.informatics.jax.org/searchtool/Search.do?query=SLC35G6&submit=Quick%0D%23047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35G6	rs7214088	0.746406	0	0.7461	0.50	2	4	exonic	exonic	exonic	SLC35G6	SLC35G6	ENSG00000259224	stopgain	stopgain	unknown	SLC35G6:NM_001102614:exon2:c.G977A:p.W326X,	SLC35G6:uc010cmj.1:exon2:c.G977A:p.W326X,	UNKNOWN	Het;G>A	3432;119|91	Hom;G>A	8576;0|190
N	N	-	17	7386428	7386428	G	A	snp	intronic	 	 	 	 	ZBTB4	Zbtb4	ENSG00000283868	zinc finger and BTB domain containing 4	chr17:7362685-7387582			 					http://www.genecards.org/index.php?path=/Search/keyword/ZBTB4			https://www.ncbi.nlm.nih.gov/omim/?term=612308	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB4&submit=Quick%0D%22828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB4	rs11078680	0.556709	0	0	1	0	0	intronic	intronic	intronic	ZBTB4	ZBTB4	ENSG00000174282	Na	Na	Na	Na	Na	Na	Het;G>A	209;10|9	Hom;G>A	799;0|24
N	N	-	17	73949540	73949540	G	C	snp	nonsynonymous SNV	C936G	I312M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	ACOX1	Acox1	ENSG00000161533	acyl-CoA oxidase 1	chr17:73937588-73975515	The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Insulin; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a targeted mutation that inactivates the gene show growth retardation, infertility, excess very long chain fatty acids in the blood, and progressive liver disease, including hepatomegaly, and hepatic adenomas and carcinomas.	Beta-oxidation of very long chain fatty acids	GO:0000038;very long-chain fatty acid metabolic process;IMP|GO:0006091;generation of precursor metabolites and energy;IMP|GO:0006629;lipid metabolic process;IDA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006693;prostaglandin metabolic process;IMP|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019395;fatty acid oxidation;IMP|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0003997;acyl-CoA oxidase activity;TAS|GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0030165;PDZ domain binding;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACOX1		https://hpo.jax.org/app/browse/search?q=ACOX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609751	http://www.informatics.jax.org/searchtool/Search.do?query=ACOX1&submit=Quick%0D%10581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOX1	rs1135640	0.550719	0.5087	0.6424	0.31	4	13	exonic	exonic	exonic	ACOX1	ACOX1	ENSG00000161533	nonsynonymous SNV	nonsynonymous SNV	unknown	ACOX1:NM_007292:exon7:c.C936G:p.I312M,ACOX1:NM_001185039:exon7:c.C822G:p.I274M,ACOX1:NM_004035:exon7:c.C936G:p.I312M,	ACOX1:uc002jqf.3:exon7:c.C936G:p.I312M,ACOX1:uc010wsq.2:exon7:c.C822G:p.I274M,ACOX1:uc002jqe.3:exon7:c.C936G:p.I312M,ACOX1:uc010wsr.2:exon8:c.C732G:p.I244M,	UNKNOWN	Het;G>C	1061;47|43	Hom;G>C	2276;0|79
N	N	-	17	73951864	73951864	T	C	snp	intronic	 	 	 	 	ACOX1	Acox1	ENSG00000161533	acyl-CoA oxidase 1	chr17:73937588-73975515	The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Insulin; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a targeted mutation that inactivates the gene show growth retardation, infertility, excess very long chain fatty acids in the blood, and progressive liver disease, including hepatomegaly, and hepatic adenomas and carcinomas.	Beta-oxidation of very long chain fatty acids	GO:0000038;very long-chain fatty acid metabolic process;IMP|GO:0006091;generation of precursor metabolites and energy;IMP|GO:0006629;lipid metabolic process;IDA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006693;prostaglandin metabolic process;IMP|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019395;fatty acid oxidation;IMP|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0003997;acyl-CoA oxidase activity;TAS|GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0030165;PDZ domain binding;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACOX1		https://hpo.jax.org/app/browse/search?q=ACOX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609751	http://www.informatics.jax.org/searchtool/Search.do?query=ACOX1&submit=Quick%0D%10581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOX1	rs10852766	0.549521	0.5068	0.6422	1	0	0	intronic	intronic	intronic	ACOX1	ACOX1	ENSG00000161533	Na	Na	Na	Na	Na	Na	Het;T>C	916;41|38	Hom;T>C	2464;0|87
N	N	-	17	7400041	7400041	C	T	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs9890920	0.741014	0.7005	0.7603	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;C>T	424;23|21	Hom;C>T	887;0|29
N	N	-	17	7401335	7401335	G	GGCTCTGGGGT	indel	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs111845660	0	0	0	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;+GCTCTGGGGT	518;15|13	Hom;+GCTCTGGGGT	1233;0|27
N	N	-	17	7402556	7402556	G	A	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs2277638	0.738019	0.7050	0.7572	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;G>A	718;18|30	Hom;G>A	2683;0|92
N	N	-	17	7402600	7402600	T	C	snp	synonymous SNV	T1461C	S487S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs2228129	0.740016	0.7060	0.7569	1	0	0	exonic	exonic	exonic	POLR2A	POLR2A	ENSG00000181222	synonymous SNV	synonymous SNV	unknown	POLR2A:NM_000937:exon10:c.T1461C:p.S487S,	POLR2A:uc002ghe.3:exon10:c.T1461C:p.S487S,POLR2A:uc002ghf.4:exon10:c.T1461C:p.S487S,	UNKNOWN	Het;T>C	1095;22|39	Hom;T>C	2769;0|90
N	N	-	17	7403942	7403942	A	C	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs12936464	0.772963	0.7367	0.7866	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;A>C	727;25|33	Hom;A>C	1631;0|57
N	N	-	17	7405074	7405074	C	T	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs8075218	0.74361	0.7052	0.7598	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;C>T	235;19|13	Hom;C>T	741;0|28
N	N	-	17	7406134	7406134	A	G	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs11658168	0.59405	0	0	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;A>G	184;7|7	Hom;A>G	513;0|14
N	N	-	17	7411447	7411447	C	T	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs11078685	0.508586	0	0	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;C>T	89;3|3	Hom;C>T	188;0|4
N	N	-	17	7411455	7411455	C	T	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs3826440	0.702077	0	0	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;C>T	89;3|3	Hom;C>T	253;0|7
N	N	-	17	7412212	7412212	A	G	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs9889368	0.724641	0.6808	0.7569	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;A>G	346;15|13	Hom;A>G	568;0|18
N	N	-	17	7414958	7414958	G	C	snp	intronic	 	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs2071502	0.488419	0.5222	0.5613	1	0	0	intronic	intronic	intronic	POLR2A	POLR2A	ENSG00000181222	Na	Na	Na	Na	Na	Na	Het;G>C	683;30|28	Hom;G>C	1309;0|45
N	N	-	17	7417551	7417551	T	C	snp	UTR3	*55T>C	 	 	 	POLR2A	Polr2a	ENSG00000181222	RNA polymerase II subunit A	chr17:7387685-7417933	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]	bladder cancer; Triglycerides; Sex Hormone-Binding Globulin; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal.	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001172;transcription, RNA-templated;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016070;RNA metabolic process;TAS|GO:0033120;positive regulation of RNA splicing;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0071453;cellular response to oxygen levels;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IEA|GO:0005719;nuclear euchromatin;IEA	GO:0001047;core promoter binding;IEA|GO:0001055;RNA polymerase II activity;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2A			https://www.ncbi.nlm.nih.gov/omim/?term=180660	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2A&submit=Quick%0D%14595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2A	rs9533	0.745208	0	0	1	0	0	UTR3	UTR3	UTR3	POLR2A(NM_000937:c.*55T>C)	POLR2A(uc002ghf.4:c.*55T>C)	ENSG00000181222(ENST00000322644:c.*55T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	282;20|14	Hom;T>C	1353;0|47
N	N	-	17	74270069	74270069	T	C	snp	downstream	 	 	 	 	QRICH2	Qrich2	ENSG00000129646	glutamine rich 2	chr17:74270130-74303761			Mice homozygous for a knock-out allele exhibit male infertility associated with decreased epididymis weight, multiple morphological abnormalities of the sperm flagella, oligozoospermia, and asthenozoospermia.					http://www.genecards.org/index.php?path=/Search/keyword/QRICH2	https://www.uniprot.org/uniprot/Q9H0J4	https://hpo.jax.org/app/browse/search?q=QRICH2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=QRICH2&submit=Quick%0D%6273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRICH2	rs71815	0.467053	0	0	1	0	0	downstream	downstream	downstream	QRICH2	QRICH2	ENSG00000129646	Na	Na	Na	Na	Na	Na	Het;T>C	68;7|4	Hom;T>C	405;0|15
N	N	-	17	74274998	74274998	G	A	snp	intronic	 	 	 	 	QRICH2	Qrich2	ENSG00000129646	glutamine rich 2	chr17:74270130-74303761			Mice homozygous for a knock-out allele exhibit male infertility associated with decreased epididymis weight, multiple morphological abnormalities of the sperm flagella, oligozoospermia, and asthenozoospermia.					http://www.genecards.org/index.php?path=/Search/keyword/QRICH2	https://www.uniprot.org/uniprot/Q9H0J4	https://hpo.jax.org/app/browse/search?q=QRICH2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=QRICH2&submit=Quick%0D%6273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRICH2	rs347676	0.461062	0	0	1	0	0	intronic	intronic	intronic	QRICH2	QRICH2	ENSG00000129646	Na	Na	Na	Na	Na	Na	Het;G>A	99;4|5	Hom;G>A	344;0|11
N	N	-	17	74275030	74275030	T	C	snp	intronic	 	 	 	 	QRICH2	Qrich2	ENSG00000129646	glutamine rich 2	chr17:74270130-74303761			Mice homozygous for a knock-out allele exhibit male infertility associated with decreased epididymis weight, multiple morphological abnormalities of the sperm flagella, oligozoospermia, and asthenozoospermia.					http://www.genecards.org/index.php?path=/Search/keyword/QRICH2	https://www.uniprot.org/uniprot/Q9H0J4	https://hpo.jax.org/app/browse/search?q=QRICH2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=QRICH2&submit=Quick%0D%6273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRICH2	rs182972	0.607827	0	0	1	0	0	intronic	intronic	intronic	QRICH2	QRICH2	ENSG00000129646	Na	Na	Na	Na	Na	Na	Het;T>C	194;9|8	Hom;T>C	1257;0|34
N	N	-	17	74276067	74276067	C	T	snp	intronic	 	 	 	 	QRICH2	Qrich2	ENSG00000129646	glutamine rich 2	chr17:74270130-74303761			Mice homozygous for a knock-out allele exhibit male infertility associated with decreased epididymis weight, multiple morphological abnormalities of the sperm flagella, oligozoospermia, and asthenozoospermia.					http://www.genecards.org/index.php?path=/Search/keyword/QRICH2	https://www.uniprot.org/uniprot/Q9H0J4	https://hpo.jax.org/app/browse/search?q=QRICH2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=QRICH2&submit=Quick%0D%6273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRICH2	rs164010	0.461861	0.4050	0.4220	1	0	0	intronic	intronic	intronic	QRICH2	QRICH2	ENSG00000129646	Na	Na	Na	Na	Na	Na	Het;C>T	207;11|12	Hom;C>T	339;0|13
N	N	-	17	74283214	74283214	C	T	snp	intronic	 	 	 	 	QRICH2	Qrich2	ENSG00000129646	glutamine rich 2	chr17:74270130-74303761			Mice homozygous for a knock-out allele exhibit male infertility associated with decreased epididymis weight, multiple morphological abnormalities of the sperm flagella, oligozoospermia, and asthenozoospermia.					http://www.genecards.org/index.php?path=/Search/keyword/QRICH2	https://www.uniprot.org/uniprot/Q9H0J4	https://hpo.jax.org/app/browse/search?q=QRICH2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=QRICH2&submit=Quick%0D%6273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRICH2	rs346786	0.15655	0	0	1	0	0	intronic	intronic	intronic	QRICH2	QRICH2	ENSG00000129646	Na	Na	Na	Na	Na	Na	Het;C>T	158;5|8	Hom;C>T	333;0|13
N	N	-	17	74283769	74283769	T	C	snp	intronic	 	 	 	 	QRICH2	Qrich2	ENSG00000129646	glutamine rich 2	chr17:74270130-74303761			Mice homozygous for a knock-out allele exhibit male infertility associated with decreased epididymis weight, multiple morphological abnormalities of the sperm flagella, oligozoospermia, and asthenozoospermia.					http://www.genecards.org/index.php?path=/Search/keyword/QRICH2	https://www.uniprot.org/uniprot/Q9H0J4	https://hpo.jax.org/app/browse/search?q=QRICH2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=QRICH2&submit=Quick%0D%6273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRICH2	rs346785	0.615216	0	0	1	0	0	intronic	intronic	intronic	QRICH2	QRICH2	ENSG00000129646	Na	Na	Na	Na	Na	Na	Het;T>C	75;2|3	Hom;T>C	138;0|4
N	N	-	17	74286173	74286173	A	G	snp	intronic	 	 	 	 	QRICH2	Qrich2	ENSG00000129646	glutamine rich 2	chr17:74270130-74303761			Mice homozygous for a knock-out allele exhibit male infertility associated with decreased epididymis weight, multiple morphological abnormalities of the sperm flagella, oligozoospermia, and asthenozoospermia.					http://www.genecards.org/index.php?path=/Search/keyword/QRICH2	https://www.uniprot.org/uniprot/Q9H0J4	https://hpo.jax.org/app/browse/search?q=QRICH2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=QRICH2&submit=Quick%0D%6273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRICH2	rs17509527	0.616014	0.5348	0.4829	1	0	0	intronic	intronic	intronic	QRICH2	QRICH2	ENSG00000129646	Na	Na	Na	Na	Na	Na	Het;A>G	656;34|32	Hom;A>G	1467;1|53
N	N	-	17	74476089	74476089	A	ATGTGTG	indel	intronic	 	 	 	 	RHBDF2	Rhbdf2	ENSG00000129667	rhomboid 5 homolog 2	chr17:74466973-74497872		Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality.		GO:0006508;proteolysis;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IBA|GO:0050708;regulation of protein secretion;IBA|GO:0050709;negative regulation of protein secretion;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RHBDF2	https://www.uniprot.org/uniprot/Q6PJF5	https://hpo.jax.org/app/browse/search?q=RHBDF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614404	http://www.informatics.jax.org/searchtool/Search.do?query=RHBDF2&submit=Quick%0D%6276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBDF2	Na	0	0	0	1	0	0	intronic	intronic	intronic	RHBDF2	RHBDF2	ENSG00000129667	Na	Na	Na	Na	Na	Na	Het;+TGTGTG	84;1|3	Hom;+TGTGTG	120;0|5
N	N	-	17	74563706	74563706	A	G	snp	intronic	 	 	 	 	ST6GALNAC2	St6galnac2	ENSG00000070731	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	chr17:74559792-74583038	ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]	nephropathy, IgA; Glomerulonephritis, IGA	Mice homozygous for a knockout allele exhibit decreased body weight, decreased IgQ, increased B cell proliferation, increased pre-B cell number, abnormal erythropoiesis, increased ALT, decreased creatinine level and prominent spleen germinal center.	Termination of O-glycan biosynthesis	GO:0006486;protein glycosylation;IEA|GO:0009311;oligosaccharide metabolic process;IBA|GO:0016266;O-glycan processing;TAS|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IBA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0001665;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST6GALNAC2	https://www.uniprot.org/uniprot/Q9UJ37		https://www.ncbi.nlm.nih.gov/omim/?term=610137	http://www.informatics.jax.org/searchtool/Search.do?query=ST6GALNAC2&submit=Quick%0D%1369ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST6GALNAC2	rs60647948	0.0932508	0	0	1	0	0	intronic	intronic	intronic	ST6GALNAC2	ST6GALNAC2	ENSG00000070731	Na	Na	Na	Na	Na	Na	Het;A>G	199;2|6	Hom;A>G	321;0|10
N	N	-	17	74684401	74684401	T	C	snp	nonsynonymous SNV	A329G	H110R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MXRA7	Mxra7	ENSG00000182534	matrix remodeling associated 7	chr17:74668633-74707098			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MXRA7				http://www.informatics.jax.org/searchtool/Search.do?query=MXRA7&submit=Quick%0D%14806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MXRA7	rs2286587	0.256789	0	0.4107	0.25	1	4	intronic	exonic	exonic	MXRA7	MXRA7	ENSG00000182534	Na	nonsynonymous SNV	unknown	Na	MXRA7:uc031rel.1:exon1:c.A329G:p.H110R,	UNKNOWN	Het;T>C	208;9|8	Hom;T>C	424;1|15
N	N	-	17	74847097	74847097	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00868																		rs771715	0.704073	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	LOC101928514(dist=43913),MGAT5B(dist=17701)	BC038218	ENSG00000267535	Na	Na	Na	Na	Na	Na	Het;T>C	38;2|2	Hom;T>C	71;0|4
N	N	-	17	75199580	75199580	A	G	snp	intronic	 	 	 	 	SEC14L1	Sec14l1	ENSG00000129657	SEC14 like lipid binding 1	chr17:75082798-75213179	The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]	Psychomotor Performance; HIV Infections|[X]Human immunodeficiency virus disease; Cognitive performance	 		GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0015871;choline transport;IDA|GO:0039536;negative regulation of RIG-I signaling pathway;IMP|GO:0045087;innate immune response;IEA|GO:0065009;regulation of molecular function;IEA	GO:0005737;cytoplasm;IC|GO:0005794;Golgi apparatus;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0039552;RIG-I binding;IPI|GO:0098772;molecular function regulator;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SEC14L1	https://www.uniprot.org/uniprot/Q92503		https://www.ncbi.nlm.nih.gov/omim/?term=601504	http://www.informatics.jax.org/searchtool/Search.do?query=SEC14L1&submit=Quick%0D%6275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC14L1	rs12602668	0.150958	0	0	1	0	0	intronic	intronic	intronic	SEC14L1	SEC14L1	ENSG00000129657	Na	Na	Na	Na	Na	Na	Het;A>G	488;19|20	Hom;A>G	1083;2|36
N	N	-	17	75557061	75557061	G	T	snp	ncRNA_exonic	 	 	 	 	LOC100507351																		rs12602878	0.648762	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507351	LOC100507351	ENSG00000267506	Na	Na	Na	Na	Na	Na	Het;G>T	356;25|18	Hom;G>T	959;0|34
N	N	-	17	75558385	75558385	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100507351																		rs201922677	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507351	LOC100507351	ENSG00000267506	Na	Na	Na	Na	Na	Na	Het;A>G	35;7|2	Hom;A>G	97;0|5
N	N	-	17	75559019	75559019	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100507351																		rs2411125	0.580272	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507351	LOC100507351	ENSG00000267506	Na	Na	Na	Na	Na	Na	Het;C>T	476;40|25	Hom;C>T	1799;0|66
N	N	-	17	75560281	75560281	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100507351																		rs3826290	0.658546	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507351	LOC100507351	ENSG00000267466	Na	Na	Na	Na	Na	Na	Het;G>A	1487;65|67	Hom;G>A	2751;1|107
N	N	-	17	75560500	75560500	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100507351																		rs2410426	0.660144	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507351	LOC100507351	ENSG00000267466	Na	Na	Na	Na	Na	Na	Het;T>C	1141;71|50	Hom;T>C	3181;1|111
N	N	-	17	75560570	75560570	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100507351																		rs2410427	0.582468	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507351	LOC100507351	ENSG00000267466	Na	Na	Na	Na	Na	Na	Het;G>A	1345;84|67	Hom;G>A	3579;1|135
N	N	-	17	75669980	75669980	G	GTCTA	indel	intergenic	 	 	 	 	AC021683.1																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100507351(dist=108877),LOC100132174(dist=48974)	LOC100507351(dist=108877),FLJ45079(dist=205103)	ENSG00000267466(dist=105203),ENSG00000267790(dist=48974)	Na	Na	Na	Na	Na	Na	Het;+TCTA	182;18|12	Hom;+TCTA	202;0|4
N	N	-	17	76111560	76111560	A	G	snp	intronic	 	 	 	 	TMC6	Tmc6	ENSG00000141524	transmembrane channel like 6	chr17:76106539-76128488	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]	epidermodysplasia verruciformis	 	Neutrophil degranulation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0008150;biological_process;ND|GO:0043312;neutrophil degranulation;TAS	GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMC6	https://www.uniprot.org/uniprot/Q7Z403	https://hpo.jax.org/app/browse/search?q=TMC6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605828	http://www.informatics.jax.org/searchtool/Search.do?query=TMC6&submit=Quick%0D%8182ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC6	rs2613515	0.527356	0	0	1	0	0	intronic	intronic	intronic	TMC6	TMC6	ENSG00000141524	Na	Na	Na	Na	Na	Na	Het;A>G	78;1|4	Hom;A>G	246;0|9
N	N	-	17	76142402	76142402	G	A	snp	upstream	 	 	 	 	C17orf99	6030468B19Rik	ENSG00000187997	chromosome 17 open reading frame 99	chr17:76142434-76162258			No notable phenotype was detected in a high-throughput screen of homozygous null mice.			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C17orf99				http://www.informatics.jax.org/searchtool/Search.do?query=C17orf99&submit=Quick%0D%15941ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf99	rs2310998	0.543331	0	0	1	0	0	upstream	upstream	upstream	C17orf99	C17orf99	ENSG00000187997	Na	Na	Na	Na	Na	Na	Het;G>A	279;8|12	Hom;G>A	744;2|30
N	N	-	17	76143009	76143009	G	A	snp	intronic	 	 	 	 	C17orf99	6030468B19Rik	ENSG00000187997	chromosome 17 open reading frame 99	chr17:76142434-76162258			No notable phenotype was detected in a high-throughput screen of homozygous null mice.			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C17orf99				http://www.informatics.jax.org/searchtool/Search.do?query=C17orf99&submit=Quick%0D%15941ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf99	rs7217374	0.383187	0	0.4641	1	0	0	intronic	intronic	intronic	C17orf99	C17orf99	ENSG00000187997	Na	Na	Na	Na	Na	Na	Het;G>A	180;17|12	Hom;G>A	808;0|32
N	N	-	17	76357892	76357892	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928674																		rs34309315	0.488818	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_intronic	LOC101928674	SOCS3(dist=1734),PGS1(dist=16843)	ENSG00000266970	Na	Na	Na	Na	Na	Na	Het;T>C	308;12|15	Hom;T>C	452;0|19
N	N	-	17	76449505	76449505	G	C	snp	synonymous SNV	C10449G	T3483T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs2289751	0.466454	0.4852	0.5174	1	0	0	exonic	exonic	exonic	DNAH17	DNAH17	ENSG00000187775	synonymous SNV	synonymous SNV	unknown	DNAH17:NM_173628:exon65:c.C10449G:p.T3483T,	DNAH17:uc010dhp.2:exon65:c.C10449G:p.T3483T,	UNKNOWN	Het;G>C	1001;64|51	Hom;G>C	2847;0|110
N	N	-	17	76457910	76457910	G	C	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs640292	0.580272	0	0	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;G>C	125;19|7	Hom;G>C	622;0|21
N	N	-	17	76485586	76485586	A	G	snp	ncRNA_exonic	 	 	 	 	DNAH17-AS1																		rs584253	0.465455	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DNAH17-AS1	DNAH17-AS1	ENSG00000267432	Na	Na	Na	Na	Na	Na	Het;A>G	1694;93|77	Hom;A>G	3744;0|130
N	N	-	17	76485703	76485703	C	T	snp	ncRNA_intronic	 	 	 	 	DNAH17-AS1																		rs691556	0.166334	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNAH17-AS1	DNAH17-AS1	ENSG00000267432	Na	Na	Na	Na	Na	Na	Het;C>T	838;36|38	Hom;C>T	1601;0|59
N	N	-	17	76485777	76485777	G	A	snp	ncRNA_intronic	 	 	 	 	DNAH17-AS1																		rs691548	0.544329	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNAH17-AS1	DNAH17-AS1	ENSG00000267432	Na	Na	Na	Na	Na	Na	Het;G>A	66;4|3	Hom;G>A	417;0|13
N	N	-	17	76491309	76491309	G	A	snp	ncRNA_intronic	 	 	 	 	DNAH17-AS1																		rs595711	0.275958	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DNAH17-AS1	DNAH17-AS1	ENSG00000267432	Na	Na	Na	Na	Na	Na	Het;G>A	448;11|15	Hom;G>A	993;0|31
N	N	-	17	76567013	76567013	C	T	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs12948559	0.292732	0.2891	0.3856	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;C>T	518;33|28	Hom;C>T	839;2|35
N	N	-	17	76567332	76567332	C	A	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs12949510	0.321286	0.3001	0.3798	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;C>A	437;19|19	Hom;C>A	1345;0|47
N	N	-	17	76567883	76567883	G	C	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs4969148	0.289736	0.2911	0.3413	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;G>C	532;40|25	Hom;G>C	1868;0|66
N	N	-	17	76567910	76567910	G	A	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs4969149	0.351438	0.3487	0.3610	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;G>A	199;26|12	Hom;G>A	1133;0|42
N	N	-	17	76568716	76568716	G	T	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs8073667	0.296126	0	0	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;G>T	65;1|3	Hom;G>T	229;0|8
N	N	-	17	76569056	76569056	G	T	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs12951733	0.325479	0	0	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;G>T	114;5|6	Hom;G>T	232;0|7
N	N	-	17	76570771	76570771	G	A	snp	intronic	 	 	 	 	DNAH17	Dnah17	ENSG00000187775	dynein axonemal heavy chain 17	chr17:76419778-76573476	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]	Celiac Disease|	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH17			https://www.ncbi.nlm.nih.gov/omim/?term=610063	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17	rs12946156	0.291134	0.1893	0.2619	1	0	0	intronic	intronic	intronic	DNAH17	DNAH17	ENSG00000187775	Na	Na	Na	Na	Na	Na	Het;G>A	906;50|46	Hom;G>A	1675;2|65
N	N	-	17	76613675	76613675	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101928710																		rs4796808	0.747604	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928710	DNAH17(dist=40199),CYTH1(dist=56455)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;G>T	1192;63|55	Hom;G>T	2470;0|88
N	N	-	17	76613849	76613849	T	G	snp	ncRNA_exonic	 	 	 	 	LOC101928710																		rs4796795	0.749002	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_intronic	LOC101928710	DNAH17(dist=40373),CYTH1(dist=56281)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;T>G	1251;99|58	Hom;T>G	3245;0|112
N	N	-	17	76613958	76613958	A	C	snp	ncRNA_exonic	 	 	 	 	LOC101928710																		rs4796809	0.564097	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_intronic	LOC101928710	DNAH17(dist=40482),CYTH1(dist=56172)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;A>C	1409;72|65	Hom;A>C	2878;0|103
N	N	-	17	76614578	76614578	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101928710																		rs11870479	0.561102	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_intronic	LOC101928710	DNAH17(dist=41102),CYTH1(dist=55552)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;G>A	1727;71|84	Hom;G>A	4447;0|166
N	N	-	17	76615018	76615018	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101928710																		rs9904517	0.563099	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928710	DNAH17(dist=41542),CYTH1(dist=55112)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;C>T	1550;62|75	Hom;C>T	3299;0|125
N	N	-	17	76626300	76626300	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101928710																		rs11077387	0.528754	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928710	DNAH17(dist=52824),CYTH1(dist=43830)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;C>T	2241;100|108	Hom;C>T	5654;0|203
N	N	-	17	76626616	76626616	C	T	snp	ncRNA_intronic	 	 	 	 	LOC101928710																		rs4796822	0.530551	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928710	DNAH17(dist=53140),CYTH1(dist=43514)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;C>T	120;2|6	Hom;C>T	466;0|17
N	N	-	17	76627985	76627985	A	AG	indel	ncRNA_intronic	 	 	 	 	LOC101928710																		rs141155659	0.734026	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928710	DNAH17(dist=54509),CYTH1(dist=42145)	ENSG00000267123	Na	Na	Na	Na	Na	Na	Het;+G	343;20|16	Hom;+G	436;2|20
N	N	-	17	76867017	76867017	C	T	snp	synonymous SNV	G303A	S101S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TIMP2	Timp2	ENSG00000035862	TIMP metallopeptidase inhibitor 2	chr17:76849059-76921469	This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]	atherosclerosis; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Long QT Syndrome; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Abdominal; Stomach Neoplasms; Hepatitis C, Chronic|Liver Cirrhosis; H. pylori infection stomach cancer; Myocardial Infarction; intracerebral hemorrhage; oral cancer; chronic obstructive pulmonary disease/COPD; abdominal aortic aneurysm; COPD | Chronic obstructive Pulmonary Disease; Dupuytren Contracture; breast cancer; Endometriosis|; breast cancer ; ovarian cancer ; Arthritis, Rheumatoid|Osteoarthritis; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Alzheimer's disease ; Endometriosis; brain aneurysm; periodontitis; Constriction, Pathologic|Graft Occlusion, Vascular; Cleft Lip|Cleft Palate; Fractures, Bone|; head and neck cancer; Crohn Disease|Recurrence; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Endometrial Neoplasms|; Atrial Fibrillation|Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Endometriosis|Uterine Diseases; stomach cancer; Scoliosis; Duodenal Ulcer|Helicobacter Infections; intracranial aneurysms; chronic obstructive pulmonary disease; Helicobacter Infections|Metaplasia; Crohn's disease ulcerative colitis; Moyamoya Disease	Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal.	Neutrophil degranulation	GO:0007417;central nervous system development;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009725;response to hormone;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0032487;regulation of Rap protein signal transduction;IEA|GO:0034097;response to cytokine;IBA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IBA|GO:1905049;negative regulation of metallopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0030426;growth cone;IEA|GO:0031012;extracellular matrix;IDA|GO:0035580;specific granule lumen;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0002020;protease binding;IPI|GO:0004857;enzyme inhibitor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP2	https://www.uniprot.org/uniprot/P16035		https://www.ncbi.nlm.nih.gov/omim/?term=188825	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP2&submit=Quick%0D%776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP2	rs2277698	0.16893	0.1118	0.1382	1	0	0	exonic	exonic	exonic	TIMP2	TIMP2	ENSG00000035862,ENSG00000178404	synonymous SNV	synonymous SNV	unknown	TIMP2:NM_003255:exon3:c.G303A:p.S101S,	TIMP2:uc002jwf.3:exon3:c.G303A:p.S101S,TIMP2:uc010wty.2:exon3:c.G72A:p.S24S,TIMP2:uc002jwe.3:exon2:c.G72A:p.S24S,	UNKNOWN	Het;C>T	679;49|33	Hom;C>T	1867;1|72
N	N	-	17	76870106	76870106	C	G	snp	UTR5	-3018G>C	 	 	 	TIMP2	Timp2	ENSG00000035862	TIMP metallopeptidase inhibitor 2	chr17:76849059-76921469	This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]	atherosclerosis; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Long QT Syndrome; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Abdominal; Stomach Neoplasms; Hepatitis C, Chronic|Liver Cirrhosis; H. pylori infection stomach cancer; Myocardial Infarction; intracerebral hemorrhage; oral cancer; chronic obstructive pulmonary disease/COPD; abdominal aortic aneurysm; COPD | Chronic obstructive Pulmonary Disease; Dupuytren Contracture; breast cancer; Endometriosis|; breast cancer ; ovarian cancer ; Arthritis, Rheumatoid|Osteoarthritis; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Alzheimer's disease ; Endometriosis; brain aneurysm; periodontitis; Constriction, Pathologic|Graft Occlusion, Vascular; Cleft Lip|Cleft Palate; Fractures, Bone|; head and neck cancer; Crohn Disease|Recurrence; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Endometrial Neoplasms|; Atrial Fibrillation|Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Endometriosis|Uterine Diseases; stomach cancer; Scoliosis; Duodenal Ulcer|Helicobacter Infections; intracranial aneurysms; chronic obstructive pulmonary disease; Helicobacter Infections|Metaplasia; Crohn's disease ulcerative colitis; Moyamoya Disease	Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal.	Neutrophil degranulation	GO:0007417;central nervous system development;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009725;response to hormone;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0032487;regulation of Rap protein signal transduction;IEA|GO:0034097;response to cytokine;IBA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IBA|GO:1905049;negative regulation of metallopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0030426;growth cone;IEA|GO:0031012;extracellular matrix;IDA|GO:0035580;specific granule lumen;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0002020;protease binding;IPI|GO:0004857;enzyme inhibitor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP2	https://www.uniprot.org/uniprot/P16035		https://www.ncbi.nlm.nih.gov/omim/?term=188825	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP2&submit=Quick%0D%776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP2	rs55955357	0.182907	0	0	1	0	0	intronic	UTR5	UTR5	TIMP2	TIMP2(uc002jwe.3:c.-3018G>C)	ENSG00000035862(ENST00000586057:c.-3018G>C,ENST00000592761:c.-3018G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	298;14|13	Hom;C>G	864;0|29
N	N	-	17	76870293	76870293	A	G	snp	intronic	 	 	 	 	TIMP2	Timp2	ENSG00000035862	TIMP metallopeptidase inhibitor 2	chr17:76849059-76921469	This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]	atherosclerosis; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Long QT Syndrome; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Abdominal; Stomach Neoplasms; Hepatitis C, Chronic|Liver Cirrhosis; H. pylori infection stomach cancer; Myocardial Infarction; intracerebral hemorrhage; oral cancer; chronic obstructive pulmonary disease/COPD; abdominal aortic aneurysm; COPD | Chronic obstructive Pulmonary Disease; Dupuytren Contracture; breast cancer; Endometriosis|; breast cancer ; ovarian cancer ; Arthritis, Rheumatoid|Osteoarthritis; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Alzheimer's disease ; Endometriosis; brain aneurysm; periodontitis; Constriction, Pathologic|Graft Occlusion, Vascular; Cleft Lip|Cleft Palate; Fractures, Bone|; head and neck cancer; Crohn Disease|Recurrence; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Endometrial Neoplasms|; Atrial Fibrillation|Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Endometriosis|Uterine Diseases; stomach cancer; Scoliosis; Duodenal Ulcer|Helicobacter Infections; intracranial aneurysms; chronic obstructive pulmonary disease; Helicobacter Infections|Metaplasia; Crohn's disease ulcerative colitis; Moyamoya Disease	Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal.	Neutrophil degranulation	GO:0007417;central nervous system development;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009725;response to hormone;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0032487;regulation of Rap protein signal transduction;IEA|GO:0034097;response to cytokine;IBA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IBA|GO:1905049;negative regulation of metallopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0030426;growth cone;IEA|GO:0031012;extracellular matrix;IDA|GO:0035580;specific granule lumen;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0002020;protease binding;IPI|GO:0004857;enzyme inhibitor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP2	https://www.uniprot.org/uniprot/P16035		https://www.ncbi.nlm.nih.gov/omim/?term=188825	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP2&submit=Quick%0D%776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP2	rs2377005	0.879393	0	0	1	0	0	intronic	intronic	intronic	TIMP2	TIMP2	ENSG00000035862,ENSG00000178404	Na	Na	Na	Na	Na	Na	Het;A>G	36;3|2	Hom;A>G	60;0|3
N	N	-	17	76874929	76874929	C	T	snp	intronic	 	 	 	 	TIMP2	Timp2	ENSG00000035862	TIMP metallopeptidase inhibitor 2	chr17:76849059-76921469	This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]	atherosclerosis; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Long QT Syndrome; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Abdominal; Stomach Neoplasms; Hepatitis C, Chronic|Liver Cirrhosis; H. pylori infection stomach cancer; Myocardial Infarction; intracerebral hemorrhage; oral cancer; chronic obstructive pulmonary disease/COPD; abdominal aortic aneurysm; COPD | Chronic obstructive Pulmonary Disease; Dupuytren Contracture; breast cancer; Endometriosis|; breast cancer ; ovarian cancer ; Arthritis, Rheumatoid|Osteoarthritis; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Alzheimer's disease ; Endometriosis; brain aneurysm; periodontitis; Constriction, Pathologic|Graft Occlusion, Vascular; Cleft Lip|Cleft Palate; Fractures, Bone|; head and neck cancer; Crohn Disease|Recurrence; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Endometrial Neoplasms|; Atrial Fibrillation|Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Endometriosis|Uterine Diseases; stomach cancer; Scoliosis; Duodenal Ulcer|Helicobacter Infections; intracranial aneurysms; chronic obstructive pulmonary disease; Helicobacter Infections|Metaplasia; Crohn's disease ulcerative colitis; Moyamoya Disease	Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal.	Neutrophil degranulation	GO:0007417;central nervous system development;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009725;response to hormone;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0032487;regulation of Rap protein signal transduction;IEA|GO:0034097;response to cytokine;IBA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IBA|GO:1905049;negative regulation of metallopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0030426;growth cone;IEA|GO:0031012;extracellular matrix;IDA|GO:0035580;specific granule lumen;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0002020;protease binding;IPI|GO:0004857;enzyme inhibitor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP2	https://www.uniprot.org/uniprot/P16035		https://www.ncbi.nlm.nih.gov/omim/?term=188825	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP2&submit=Quick%0D%776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP2	rs6501256	0.883986	0	0	1	0	0	intronic	intronic	intronic	TIMP2	TIMP2	ENSG00000035862,ENSG00000178404	Na	Na	Na	Na	Na	Na	Het;C>T	45;2|3	Hom;C>T	170;0|8
N	N	-	17	76877331	76877331	T	C	snp	intronic	 	 	 	 	TIMP2	Timp2	ENSG00000035862	TIMP metallopeptidase inhibitor 2	chr17:76849059-76921469	This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]	atherosclerosis; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Long QT Syndrome; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; Type 2 Diabetes| edema | rosiglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Abdominal; Stomach Neoplasms; Hepatitis C, Chronic|Liver Cirrhosis; H. pylori infection stomach cancer; Myocardial Infarction; intracerebral hemorrhage; oral cancer; chronic obstructive pulmonary disease/COPD; abdominal aortic aneurysm; COPD | Chronic obstructive Pulmonary Disease; Dupuytren Contracture; breast cancer; Endometriosis|; breast cancer ; ovarian cancer ; Arthritis, Rheumatoid|Osteoarthritis; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Alzheimer's disease ; Endometriosis; brain aneurysm; periodontitis; Constriction, Pathologic|Graft Occlusion, Vascular; Cleft Lip|Cleft Palate; Fractures, Bone|; head and neck cancer; Crohn Disease|Recurrence; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Endometrial Neoplasms|; Atrial Fibrillation|Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Endometriosis|Uterine Diseases; stomach cancer; Scoliosis; Duodenal Ulcer|Helicobacter Infections; intracranial aneurysms; chronic obstructive pulmonary disease; Helicobacter Infections|Metaplasia; Crohn's disease ulcerative colitis; Moyamoya Disease	Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal.	Neutrophil degranulation	GO:0007417;central nervous system development;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009725;response to hormone;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0032487;regulation of Rap protein signal transduction;IEA|GO:0034097;response to cytokine;IBA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IBA|GO:1905049;negative regulation of metallopeptidase activity;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0030426;growth cone;IEA|GO:0031012;extracellular matrix;IDA|GO:0035580;specific granule lumen;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0002020;protease binding;IPI|GO:0004857;enzyme inhibitor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP2	https://www.uniprot.org/uniprot/P16035		https://www.ncbi.nlm.nih.gov/omim/?term=188825	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP2&submit=Quick%0D%776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP2	rs11654470	0.199481	0	0	1	0	0	intronic	intronic	intronic	TIMP2	TIMP2	ENSG00000035862,ENSG00000178404	Na	Na	Na	Na	Na	Na	Het;T>C	47;4|4	Hom;T>C	210;0|9
N	N	-	17	77097811	77097811	G	C	snp	intronic	 	 	 	 	RBFOX3	Rbfox3	ENSG00000167281	RNA binding protein, fox-1 homolog 3	chr17:77085427-77613550		Cholesterol, HDL; Parkinson Disease; Triglycerides; Body Weight; Lipids	Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus.		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RBFOX3			https://www.ncbi.nlm.nih.gov/omim/?term=616999	http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX3&submit=Quick%0D%11987ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX3	rs2612798	0.401158	0	0	1	0	0	intronic	intronic	intronic	RBFOX3	RBFOX3	ENSG00000167281	Na	Na	Na	Na	Na	Na	Het;G>C	140;6|7	Hom;G>C	422;0|16
N	N	-	17	77192048	77192048	A	G	snp	intronic	 	 	 	 	RBFOX3	Rbfox3	ENSG00000167281	RNA binding protein, fox-1 homolog 3	chr17:77085427-77613550		Cholesterol, HDL; Parkinson Disease; Triglycerides; Body Weight; Lipids	Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus.		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RBFOX3			https://www.ncbi.nlm.nih.gov/omim/?term=616999	http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX3&submit=Quick%0D%11987ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX3	rs2612807	0.704273	0	0	1	0	0	intronic	intronic	intronic	RBFOX3	RBFOX3	ENSG00000167281	Na	Na	Na	Na	Na	Na	Het;A>G	131;5|8	Hom;A>G	171;0|6
N	N	-	17	7733833	7733833	A	G	snp	intronic	 	 	 	 	DNAH2	Dnah2	ENSG00000183914	dynein axonemal heavy chain 2	chr17:7620672-7737062	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]	Diabetes Mellitus, Type 1; Cholesterol	 		GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH2			https://www.ncbi.nlm.nih.gov/omim/?term=603333	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH2&submit=Quick%0D%15107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH2	rs34121753	0.225839	0.4523	0.4048	1	0	0	intronic	intronic	intronic	DNAH2	DNAH2	ENSG00000183914	Na	Na	Na	Na	Na	Na	Het;A>G	496;12|22	Hom;A>G	1128;0|37
N	N	-	17	7754993	7754993	G	A	snp	synonymous SNV	G1950A	L650L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KDM6B	Kdm6b	ENSG00000132510	lysine demethylase 6B	chr17:7743222-7758114		Autosomal Recessive Mental Retardation	Mice homozygous for a null allele show perinatal death, thick alveolar septum, and absence of air space in the lungs. Mice homozygous for a different null allele die neonatally displaying abnormal lung development, dwarfism, kyphosis, short limbs, and a severe delay in endochondral ossification.	HDMs demethylate histones	GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0006954;inflammatory response;IEA|GO:0010468;regulation of gene expression;IEA|GO:0014823;response to activity;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0021766;hippocampus development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045446;endothelial cell differentiation;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048333;mesodermal cell differentiation;ISS|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0060992;response to fungicide;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071557;histone H3-K27 demethylation;IEA	GO:0005634;nucleus;ISS|GO:0005654;nucleoplasm;TAS	GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;TAS|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0071558;histone demethylase activity (H3-K27 specific);EXP	http://www.genecards.org/index.php?path=/Search/keyword/KDM6B	https://www.uniprot.org/uniprot/O15054		https://www.ncbi.nlm.nih.gov/omim/?term=611577	http://www.informatics.jax.org/searchtool/Search.do?query=KDM6B&submit=Quick%0D%6687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM6B	rs12939056	0.187101	0.4108	0.4529	1	0	0	exonic	exonic	exonic	KDM6B	KDM6B	ENSG00000132510	synonymous SNV	synonymous SNV	unknown	KDM6B:NM_001080424:exon17:c.G4044A:p.L1348L,	KDM6B:uc002gix.3:exon7:c.G1950A:p.L650L,KDM6B:uc002giw.1:exon17:c.G4044A:p.L1348L,	UNKNOWN	Het;G>A	1055;71|51	Hom;G>A	3329;2|122
N	N	-	17	77715778	77715778	A	G	snp	UTR3	*202A>G	 	 	 	ENPP7	Enpp7	ENSG00000182156	ectonucleotide pyrophosphatase/phosphodiesterase 7	chr17:77704681-77716021			Mice homozygous for a knock-out allele exhibit intestinal epithelium hypertrophy, decreased crypt and villi width, and impaired sphingomyelin digestion.	Glycosphingolipid metabolism	GO:0006684;sphingomyelin metabolic process;IDA|GO:0006685;sphingomyelin catabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008156;negative regulation of DNA replication;IDA|GO:0008285;negative regulation of cell proliferation;IDA	GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004767;sphingomyelin phosphodiesterase activity;TAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENPP7			https://www.ncbi.nlm.nih.gov/omim/?term=616997	http://www.informatics.jax.org/searchtool/Search.do?query=ENPP7&submit=Quick%0D%14729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPP7	rs3194491	0.30012	0	0	1	0	0	UTR3	UTR3	UTR3	ENPP7(NM_178543:c.*202A>G)	ENPP7(uc002jxa.3:c.*202A>G)	ENSG00000182156(ENST00000328313:c.*202A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	43;3|3	Hom;A>G	309;0|9
N	N	-	17	77768654	77768654	C	A	snp	nonsynonymous SNV	G950T	G317V	aliphatic,neutral	aliphatic,hydrophobic,neutral	CBX8	Cbx8	ENSG00000141570	chromobox 8	chr17:77765931-77775482		Myocardial Infarction	Mice homozygous for a knock-out allele exhibit impaired MLL-AF9 transformation but are otherwise viable with normal hematopoiesis.	Regulation of PTEN gene transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016574;histone ubiquitination;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0045739;positive regulation of DNA repair;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA	GO:0000151;ubiquitin ligase complex;IEA|GO:0000790;nuclear chromatin;IDA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA	GO:0003727;single-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0097027;ubiquitin-protein transferase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CBX8	https://www.uniprot.org/uniprot/Q9HC52		https://www.ncbi.nlm.nih.gov/omim/?term=617354	http://www.informatics.jax.org/searchtool/Search.do?query=CBX8&submit=Quick%0D%8196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBX8	rs4889891	0.609425	0.5968	0.5555	0.23	3	13	exonic	exonic	exonic	CBX8	CBX8	ENSG00000141570	nonsynonymous SNV	nonsynonymous SNV	unknown	CBX8:NM_020649:exon5:c.G950T:p.G317V,	CBX8:uc002jxd.2:exon5:c.G950T:p.G317V,	UNKNOWN	Het;C>A	806;48|40	Hom;C>A	1985;0|71
N	N	-	17	77888965	77888965	C	A	snp	downstream	 	 	 	 	LINC01979																		rs1663187	0.755591	0	0	1	0	0	downstream	intergenic	downstream	LOC101928766	CBX4(dist=75752),BC044939(dist=4191)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;C>A	286;2|8	Hom;C>A	260;0|7
N	N	-	17	77889055	77889055	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928766																		rs1663189	0.755591	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928766	CBX4(dist=75842),BC044939(dist=4101)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;T>C	924;27|37	Hom;T>C	1940;0|68
N	N	-	17	77889139	77889139	C	CT	indel	ncRNA_exonic	 	 	 	 	LOC101928766																		rs11381845	0.755791	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928766	CBX4(dist=75926),BC044939(dist=4017)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;+T	2262;55|66	Hom;+T	4776;0|120
N	N	-	17	77889231	77889231	A	G	snp	ncRNA_intronic	 	 	 	 	LOC101928766																		rs1663190	0.75619	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928766	CBX4(dist=76018),BC044939(dist=3925)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;A>G	1096;35|46	Hom;A>G	1995;0|68
N	N	-	17	77889267	77889267	C	G	snp	ncRNA_intronic	 	 	 	 	LOC101928766																		rs1696781	0.75619	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928766	CBX4(dist=76054),BC044939(dist=3889)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;C>G	887;20|32	Hom;C>G	1219;0|41
N	N	-	17	77889437	77889437	G	T	snp	ncRNA_intronic	 	 	 	 	LOC101928766																		rs4889930	0.122404	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928766	CBX4(dist=76224),BC044939(dist=3719)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;G>T	80;1|4	Hom;G>T	87;0|3
N	N	-	17	77889524	77889524	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101928766																		rs1696782	0.75599	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928766	CBX4(dist=76311),BC044939(dist=3632)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;T>C	338;4|9	Hom;T>C	171;0|5
N	N	-	17	77889525	77889525	C	T	snp	ncRNA_intronic	 	 	 	 	LOC101928766																		rs1696783	0.75599	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928766	CBX4(dist=76312),BC044939(dist=3631)	ENSG00000262585	Na	Na	Na	Na	Na	Na	Het;C>T	338;4|9	Hom;C>T	171;0|5
N	N	-	17	78079837	78079837	A	G	snp	intronic	 	 	 	 	GAA	Gaa	ENSG00000171298	glucosidase alpha, acid	chr17:78075355-78093678	This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	late-onset glycogen storage disease type II; Type 2 Diabetes| edema | rosiglitazone; Glycogen Storage Disease Type II; Glycogen Storage Disease Type II|Heart Diseases; delayed onset of glycogenosis type II.; Glycogen storage disease type II; glycogen storage disease	Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course ofthe disease appear to be strain-dependent.	Neutrophil degranulation	GO:0000023;maltose metabolic process;IC|GO:0002026;regulation of the force of heart contraction;IEA|GO:0002086;diaphragm contraction;IMP|GO:0003007;heart morphogenesis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0005985;sucrose metabolic process;IC|GO:0006006;glucose metabolic process;IC|GO:0006941;striated muscle contraction;IEA|GO:0007040;lysosome organization;IMP|GO:0007626;locomotory behavior;IEA|GO:0008152;metabolic process;IEA|GO:0009888;tissue development;IEA|GO:0043181;vacuolar sequestering;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0046716;muscle cell cellular homeostasis;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0060048;cardiac muscle contraction;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;IDA|GO:0004574;oligo-1,6-glucosidase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032450;maltose alpha-glucosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GAA		https://hpo.jax.org/app/browse/search?q=GAA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606800	http://www.informatics.jax.org/searchtool/Search.do?query=GAA&submit=Quick%0D%12894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAA	rs2304847	0.602835	0	0	1	0	0	intronic	intronic	intronic	GAA	GAA	ENSG00000171298	Na	Na	Na	Na	Na	Na	Het;A>G	107;5|5	Hom;A>G	99;0|4
N	N	-	17	78265667	78265667	T	C	snp	intronic	 	 	 	 	RNF213	Rnf213	ENSG00000173821	ring finger protein 213	chr17:78234665-78372586	This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	Moyamoya Disease	Mice homozygous for a knock-out allele exhibit decreased body weight and circulating glucose level but normal glucose tolerance, insulin sensitivity, insulin plasma levels and leptin plasma levels.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0001525;angiogenesis;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0016567;protein ubiquitination;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051865;protein autoubiquitination;IDA|GO:2000051;negative regulation of non-canonical Wnt signaling pathway;IMP	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF213		https://hpo.jax.org/app/browse/search?q=RNF213&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613768	http://www.informatics.jax.org/searchtool/Search.do?query=RNF213&submit=Quick%0D%13430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF213	rs7503557	0.213858	0.1665	0.1146	1	0	0	intronic	intronic	intronic	RNF213	RNF213	ENSG00000173821	Na	Na	Na	Na	Na	Na	Het;T>C	389;20|17	Hom;T>C	1422;0|50
N	N	-	17	78765219	78765219	A	G	snp	intronic	 	 	 	 	RPTOR	Rptor	ENSG00000141564	regulatory associated protein of MTOR complex 1	chr17:78518619-78940171	This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	null; Blood Pressure	Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells.	Regulation of PTEN gene transcription	GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA	GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPTOR	https://www.uniprot.org/uniprot/Q8N122		https://www.ncbi.nlm.nih.gov/omim/?term=607130	http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR	rs4969429	0.73762	0.7493	0.7235	1	0	0	intronic	intronic	intronic	RPTOR	RPTOR	ENSG00000141564	Na	Na	Na	Na	Na	Na	Het;A>G	272;16|14	Hom;A>G	742;0|27
N	N	-	17	78778427	78778427	C	A	snp	ncRNA_intronic	 	 	 	 	LOC101928855																		rs9895714	0.700479	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101928855	RPTOR	ENSG00000262833	Na	Na	Na	Na	Na	Na	Het;C>A	792;42|39	Hom;C>A	1607;1|59
N	N	-	17	78865491	78865491	C	G	snp	intronic	 	 	 	 	RPTOR	Rptor	ENSG00000141564	regulatory associated protein of MTOR complex 1	chr17:78518619-78940171	This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	null; Blood Pressure	Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells.	Regulation of PTEN gene transcription	GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA	GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPTOR	https://www.uniprot.org/uniprot/Q8N122		https://www.ncbi.nlm.nih.gov/omim/?term=607130	http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR	rs2289763	0.127596	0.0926	0.1305	1	0	0	intronic	intronic	intronic	RPTOR	RPTOR	ENSG00000141564	Na	Na	Na	Na	Na	Na	Het;C>G	703;31|33	Hom;C>G	1431;0|48
N	N	-	17	78865824	78865824	A	G	snp	intronic	 	 	 	 	RPTOR	Rptor	ENSG00000141564	regulatory associated protein of MTOR complex 1	chr17:78518619-78940171	This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	null; Blood Pressure	Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells.	Regulation of PTEN gene transcription	GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA	GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPTOR	https://www.uniprot.org/uniprot/Q8N122		https://www.ncbi.nlm.nih.gov/omim/?term=607130	http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR	rs2289766	0.28135	0	0	1	0	0	intronic	intronic	intronic	RPTOR	RPTOR	ENSG00000141564	Na	Na	Na	Na	Na	Na	Het;A>G	175;7|6	Hom;A>G	135;0|4
N	N	-	17	78938204	78938204	G	C	snp	UTR3	*74G>C	 	 	 	RPTOR	Rptor	ENSG00000141564	regulatory associated protein of MTOR complex 1	chr17:78518619-78940171	This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	null; Blood Pressure	Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells.	Regulation of PTEN gene transcription	GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA	GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPTOR	https://www.uniprot.org/uniprot/Q8N122		https://www.ncbi.nlm.nih.gov/omim/?term=607130	http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR	rs3751936	0.208666	0	0	1	0	0	UTR3	UTR3	UTR3	RPTOR(NM_001163034:c.*74G>C,NM_020761:c.*74G>C)	RPTOR(uc002jyt.1:c.*74G>C,uc010wug.1:c.*74G>C,uc002jyu.1:c.*74G>C)	ENSG00000141564(ENST00000306801:c.*74G>C,ENST00000544334:c.*74G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	726;17|28	Hom;G>C	1216;0|41
N	N	-	17	78971176	78971176	A	G	snp	intronic	 	 	 	 	CHMP6	Chmp6	ENSG00000176108	charged multivesicular body protein 6	chr17:78965398-78983317	This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]		 	Endosomal Sorting Complex Required For Transport (ESCRT)	GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS	GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHMP6			https://www.ncbi.nlm.nih.gov/omim/?term=610901	http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6	rs9989475	0.254992	0.2632	0.2269	1	0	0	intronic	intronic	intronic	CHMP6	CHMP6	ENSG00000176108	Na	Na	Na	Na	Na	Na	Het;A>G	374;6|10	Hom;A>G	991;0|24
N	N	-	17	79095629	79095629	C	A	snp	nonsynonymous SNV	G1798T	G600C	aliphatic,neutral	polar,hydrophobic,neutral	AATK	Aatk	ENSG00000181409	apoptosis associated tyrosine kinase	chr17:79091095-79139877	The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]	E-Selectin; Heart Failure	Mice homozygous for a knock-out allele exhibit decreased brain size, longer axons and fewer neurites.		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AATK			https://www.ncbi.nlm.nih.gov/omim/?term=605276	http://www.informatics.jax.org/searchtool/Search.do?query=AATK&submit=Quick%0D%14617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AATK	rs7503604	0.55651	0.4645	0.6021	0.08	1	13	exonic	exonic	exonic	AATK	AATK	ENSG00000181409	nonsynonymous SNV	nonsynonymous SNV	unknown	AATK:NM_004920:exon10:c.G1798T:p.G600C,AATK:NM_001080395:exon11:c.G2107T:p.G703C,	AATK:uc010dia.3:exon11:c.G2107T:p.G703C,AATK:uc021ueu.1:exon10:c.G1798T:p.G600C,	UNKNOWN	Het;C>A	1517;57|69	Hom;C>A	2720;0|102
N	N	-	17	79414914	79414914	A	G	snp	intronic	 	 	 	 	BAHCC1	Bahcc1																	rs10871497	0.665335	0.7897	0.6764	1	0	0	intronic	intronic	intronic	BAHCC1	BAHCC1	ENSG00000171282	Na	Na	Na	Na	Na	Na	Het;A>G	353;29|18	Hom;A>G	1139;0|38
N	N	-	17	79418260	79418260	A	G	snp	intronic	 	 	 	 	BAHCC1	Bahcc1																	rs6565571	0.66254	0	0.7497	1	0	0	intronic	intronic	intronic	BAHCC1	BAHCC1	ENSG00000171282	Na	Na	Na	Na	Na	Na	Het;A>G	231;19|12	Hom;A>G	1228;0|41
N	N	-	17	79424516	79424516	A	G	snp	nonsynonymous SNV	A4753G	T1585A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	BAHCC1	Bahcc1																	rs12601317	0.645767	0.7923	0.7368	0.08	1	13	exonic	exonic	exonic	BAHCC1	BAHCC1	ENSG00000171282	unknown	nonsynonymous SNV	unknown	UNKNOWN	BAHCC1:uc002kaf.2:exon16:c.A4753G:p.T1585A,BAHCC1:uc002kae.2:exon13:c.A2629G:p.T877A,	UNKNOWN	Het;A>G	812;46|40	Hom;A>G	2396;0|71
N	N	-	17	79577127	79577127	T	G	snp	intronic	 	 	 	 	NPLOC4	Nploc4	ENSG00000182446	NPL4 homolog, ubiquitin recognition factor	chr17:79523913-79615495		Eye Color	 	Translesion Synthesis by POLH	GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0007030;Golgi organization;ISS|GO:0030433;ubiquitin-dependent ERAD pathway;ISS|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0032480;negative regulation of type I interferon production;IMP|GO:0039536;negative regulation of RIG-I signaling pathway;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0070987;error-free translesion synthesis;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0005829;cytosol;IEA|GO:0034098;VCP-NPL4-UFD1 AAA ATPase complex;IDA|GO:0036501;UFD1-NPL4 complex;IPI|GO:0042175;nuclear outer membrane-endoplasmic reticulum membrane network;ISS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0043130;ubiquitin binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NPLOC4			https://www.ncbi.nlm.nih.gov/omim/?term=606590	http://www.informatics.jax.org/searchtool/Search.do?query=NPLOC4&submit=Quick%0D%14789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPLOC4	rs8077038	0.239617	0	0	1	0	0	intronic	intronic	intronic	NPLOC4	NPLOC4	ENSG00000182446	Na	Na	Na	Na	Na	Na	Het;T>G	238;1|8	Hom;T>G	371;0|12
N	N	-	17	79972901	79972901	C	T	snp	intronic	 	 	 	 	ASPSCR1	Aspscr1	ENSG00000169696	ASPSCR1, UBX domain containing tether for SLC2A4	chr17:79934683-79975282	The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]	Type 2 diabetes	 	Translocation of GLUT4 to the plasma membrane	GO:0006886;intracellular protein transport;IEA|GO:0008150;biological_process;ND|GO:0042593;glucose homeostasis;IEA|GO:0046324;regulation of glucose import;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0012505;endomembrane system;IEA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ASPSCR1		https://hpo.jax.org/app/browse/search?q=ASPSCR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606236	http://www.informatics.jax.org/searchtool/Search.do?query=ASPSCR1&submit=Quick%0D%12546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASPSCR1	rs9895872	0.407947	0.4864	0.5124	1	0	0	intronic	intronic	intronic	ASPSCR1	ASPSCR1	ENSG00000169696	Na	Na	Na	Na	Na	Na	Het;C>T	344;14|14	Hom;C>T	494;0|15
N	N	-	17	79974731	79974731	T	C	snp	synonymous SNV	T1230C	D410D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ASPSCR1	Aspscr1	ENSG00000169696	ASPSCR1, UBX domain containing tether for SLC2A4	chr17:79934683-79975282	The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]	Type 2 diabetes	 	Translocation of GLUT4 to the plasma membrane	GO:0006886;intracellular protein transport;IEA|GO:0008150;biological_process;ND|GO:0042593;glucose homeostasis;IEA|GO:0046324;regulation of glucose import;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0012505;endomembrane system;IEA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ASPSCR1		https://hpo.jax.org/app/browse/search?q=ASPSCR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606236	http://www.informatics.jax.org/searchtool/Search.do?query=ASPSCR1&submit=Quick%0D%12546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASPSCR1	rs13087	0.580272	0.6464	0.5906	1	0	0	exonic	exonic	exonic	ASPSCR1	ASPSCR1	ENSG00000169696	synonymous SNV	synonymous SNV	unknown	ASPSCR1:NM_024083:exon14:c.T1461C:p.D487D,ASPSCR1:NM_001251888:exon15:c.T1743C:p.D581D,	ASPSCR1:uc021ufj.1:exon13:c.T1230C:p.D410D,ASPSCR1:uc002kcy.3:exon15:c.T1743C:p.D581D,ASPSCR1:uc002kda.3:exon13:c.T1305C:p.D435D,ASPSCR1:uc002kcx.3:exon14:c.T1461C:p.D487D,	UNKNOWN	Het;T>C	1334;28|55	Hom;T>C	2455;0|86
N	N	-	17	79977813	79977813	C	G	snp	intronic	 	 	 	 	STRA13	Stra13																	rs4969471	0.70028	0.7755	0.7137	1	0	0	intronic	intronic	intronic	STRA13	STRA13	ENSG00000169689	Na	Na	Na	Na	Na	Na	Het;C>G	191;5|8	Hom;C>G	237;0|8
N	N	-	17	79980756	79980756	C	A	snp	UTR5	-19G>T	 	 	 	STRA13	Stra13																	rs3934983	0.412141	0.5161	0.5380	1	0	0	UTR5	UTR5	UTR5	STRA13(NM_144998:c.-19G>T,NM_001271007:c.-19G>T,NM_001271006:c.-19G>T)	STRA13(uc031rey.1:c.-19G>T,uc002kdc.4:c.-19G>T,uc002kdd.4:c.-19G>T)	ENSG00000169689(ENST00000392359:c.-19G>T,ENST00000306704:c.-19G>T,ENST00000580435:c.-19G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	391;16|19	Hom;C>A	1085;2|43
N	N	-	17	80006957	80006957	A	C	snp	nonsynonymous SNV	T864G	H288Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	RFNG	Rfng	ENSG00000169733	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	chr17:80005778-80009707			Mice homozygous for disruptions of this gene display a completely normal phenotype.	Pre-NOTCH Processing in Golgi	GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007399;nervous system development;IEA|GO:0009887;animal organ morphogenesis;NAS|GO:0030154;cell differentiation;IEA|GO:0032092;positive regulation of protein binding;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;NAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0033829;O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RFNG			https://www.ncbi.nlm.nih.gov/omim/?term=602578	http://www.informatics.jax.org/searchtool/Search.do?query=RFNG&submit=Quick%0D%12554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RFNG	rs12948507	0.530551	0.6570	0.6313	0.08	1	13	exonic	exonic	exonic	RFNG	RFNG	ENSG00000169733	nonsynonymous SNV	nonsynonymous SNV	unknown	RFNG:NM_002917:exon7:c.T864G:p.H288Q,	RFNG:uc002kdh.3:exon3:c.T219G:p.H73Q,RFNG:uc002kdj.3:exon7:c.T864G:p.H288Q,	UNKNOWN	Het;A>C	236;25|14	Hom;A>C	1224;0|43
N	N	-	17	80007018	80007018	T	C	snp	UTR3	*52A>G	 	 	 	BC050399																		rs12939972	0.589457	0.7187	0.6527	1	0	0	intronic	UTR3	intronic	RFNG	BC050399(uc021ufl.1:c.*52A>G)	ENSG00000169733	Na	Na	Na	Na	Na	Na	Het;T>C	231;19|12	Hom;T>C	789;0|29
N	N	-	17	80007055	80007055	T	C	snp	UTR3	*15A>G	 	 	 	BC050399																		rs62078730	0.579073	0	0.6551	1	0	0	intronic	UTR3	intronic	RFNG	BC050399(uc021ufl.1:c.*15A>G)	ENSG00000169733	Na	Na	Na	Na	Na	Na	Het;T>C	107;13|8	Hom;T>C	696;0|15
N	N	-	17	80007080	80007080	T	C	snp	nonsynonymous SNV	A626G	K209R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	BC050399																		rs28404464	0.578474	0	0.6363	1	0	0	intronic	exonic	intronic	RFNG	BC050399	ENSG00000169733	Na	nonsynonymous SNV	Na	Na	BC050399:uc021ufl.1:exon1:c.A626G:p.K209R,	Na	Het;T>C	260;9|8	Hom;T>C	602;0|14
N	N	-	17	80007088	80007088	C	G	snp	synonymous SNV	G618C	G206G	aliphatic,neutral	aliphatic,neutral	BC050399																		rs28696285	0.578275	0	0.6274	1	0	0	intronic	exonic	intronic	RFNG	BC050399	ENSG00000169733	Na	synonymous SNV	Na	Na	BC050399:uc021ufl.1:exon1:c.G618C:p.G206G,	Na	Het;C>G	239;8|7	Hom;C>G	557;0|11
N	N	-	17	80050554	80050556	CGG	C	indel	intronic	 	 	 	 	FASN	Fasn	ENSG00000169710	fatty acid synthase	chr17:80036214-80056208	The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]	Insulin Resistance|Obesity|Weight Gain; Schizophrenia; plasma HDL cholesterol (HDL-C) levels; prostate cancer; obesity; Acquired Immunodeficiency Syndrome|Disease Progression; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Hypercholesterolemia|LDLC levels; Type 2 Diabetes| edema | rosiglitazone	Targeted mutation of this locus has implicated its product in embryogenesis as all homozygotes and most heterozygotes die prior to birth.	Fatty acyl-CoA biosynthesis	GO:0001649;osteoblast differentiation;IDA|GO:0006084;acetyl-CoA metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;TAS|GO:0006633;fatty acid biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0015939;pantothenate metabolic process;TAS|GO:0030879;mammary gland development;IEA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071353;cellular response to interleukin-4;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA|GO:0042587;glycogen granule;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004312;fatty acid synthase activity;TAS|GO:0004313;[acyl-carrier-protein] S-acetyltransferase activity;IEA|GO:0004314;[acyl-carrier-protein] S-malonyltransferase activity;IEA|GO:0004315;3-oxoacyl-[acyl-carrier-protein] synthase activity;IEA|GO:0004316;3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity;IEA|GO:0004317;3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity;IEA|GO:0004319;enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity;IEA|GO:0004320;oleoyl-[acyl-carrier-protein] hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IEA|GO:0016295;myristoyl-[acyl-carrier-protein] hydrolase activity;IEA|GO:0016296;palmitoyl-[acyl-carrier-protein] hydrolase activity;IEA|GO:0016297;acyl-[acyl-carrier-protein] hydrolase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0016829;lyase activity;IEA|GO:0019171;3-hydroxyacyl-[acyl-carrier-protein] dehydratase activity;IEA|GO:0031177;phosphopantetheine binding;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0047117;enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity;IEA|GO:0047451;3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity;IEA|GO:0070402;NADPH binding;IEA|GO:0102131;3-oxo-glutaryl-[acp] methyl ester reductase activity;IEA|GO:0102132;3-oxo-pimeloyl-[acp] methyl ester reductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FASN			https://www.ncbi.nlm.nih.gov/omim/?term=600212	http://www.informatics.jax.org/searchtool/Search.do?query=FASN&submit=Quick%0D%12548ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FASN	rs10591316	0	0	0.8259	1	0	0	intronic	intronic	intronic	FASN	FASN	ENSG00000169710	Na	Na	Na	Na	Na	Na	Het;-GG	432;2|14	Hom;-GG	481;0|14
N	N	-	17	8007650	8007650	T	C	snp	intronic	 	 	 	 	ALOXE3	Aloxe3	ENSG00000179148	arachidonate lipoxygenase 3	chr17:7999218-8022365	This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	epithelial ovarian cancer ; Meningeal Neoplasms|meningioma; Ichthyosiform Erythroderma, Congenital; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a knock-out allele exhibit complete neonatal lethality, imapired skin barrier function, dehydration, tightly packed stratum corneum, impaired stratum corneum desquamation and reduced levels of ester-bound ceramide in the epidermis.	Synthesis of 12-eicosatetraenoic acid derivatives	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0035357;peroxisome proliferator activated receptor signaling pathway;ISS|GO:0043651;linoleic acid metabolic process;IDA|GO:0045444;fat cell differentiation;ISS|GO:0046513;ceramide biosynthetic process;ISS|GO:0051122;hepoxilin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0061436;establishment of skin barrier;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0016829;lyase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051120;hepoxilin A3 synthase activity;TAS|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALOXE3		https://hpo.jax.org/app/browse/search?q=ALOXE3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607206	http://www.informatics.jax.org/searchtool/Search.do?query=ALOXE3&submit=Quick%0D%14300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOXE3	rs2289587	0.486022	0	0	1	0	0	intronic	intronic	intronic	ALOXE3	ALOXE3	ENSG00000179148	Na	Na	Na	Na	Na	Na	Het;T>C	55;8|3	Hom;T>C	577;0|17
N	N	-	17	8007683	8007683	C	T	snp	intronic	 	 	 	 	ALOXE3	Aloxe3	ENSG00000179148	arachidonate lipoxygenase 3	chr17:7999218-8022365	This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	epithelial ovarian cancer ; Meningeal Neoplasms|meningioma; Ichthyosiform Erythroderma, Congenital; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a knock-out allele exhibit complete neonatal lethality, imapired skin barrier function, dehydration, tightly packed stratum corneum, impaired stratum corneum desquamation and reduced levels of ester-bound ceramide in the epidermis.	Synthesis of 12-eicosatetraenoic acid derivatives	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0035357;peroxisome proliferator activated receptor signaling pathway;ISS|GO:0043651;linoleic acid metabolic process;IDA|GO:0045444;fat cell differentiation;ISS|GO:0046513;ceramide biosynthetic process;ISS|GO:0051122;hepoxilin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0061436;establishment of skin barrier;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0016829;lyase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051120;hepoxilin A3 synthase activity;TAS|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALOXE3		https://hpo.jax.org/app/browse/search?q=ALOXE3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607206	http://www.informatics.jax.org/searchtool/Search.do?query=ALOXE3&submit=Quick%0D%14300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALOXE3	rs2289588	0.476637	0	0	1	0	0	intronic	intronic	intronic	ALOXE3	ALOXE3	ENSG00000179148	Na	Na	Na	Na	Na	Na	Het;C>T	50;7|3	Hom;C>T	259;0|8
N	N	-	17	8046772	8046772	C	G	snp	nonsynonymous SNV	G2884C	A962P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PER1	Per1	ENSG00000179094	period circadian clock 1	chr17:8043790-8059824	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]	autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer	Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PER1			https://www.ncbi.nlm.nih.gov/omim/?term=602260	http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1	rs2585405	0.771765	0.8592	0.8544	0.23	3	13	exonic	exonic	exonic	PER1	PER1	ENSG00000179094	nonsynonymous SNV	nonsynonymous SNV	unknown	PER1:NM_002616:exon19:c.G2884C:p.A962P,	PER1:uc002gkd.3:exon19:c.G2884C:p.A962P,	UNKNOWN	Het;C>G	1583;65|73	Hom;C>G	2920;0|102
N	N	-	17	8048169	8048169	T	C	snp	synonymous SNV	A2313G	T771T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PER1	Per1	ENSG00000179094	period circadian clock 1	chr17:8043790-8059824	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]	autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer	Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PER1			https://www.ncbi.nlm.nih.gov/omim/?term=602260	http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1	rs2253820	0.570288	0.7404	0.7486	1	0	0	exonic	exonic	exonic	PER1	PER1	ENSG00000179094	synonymous SNV	synonymous SNV	unknown	PER1:NM_002616:exon18:c.A2361G:p.T787T,	PER1:uc010vur.1:exon18:c.A2313G:p.T771T,PER1:uc002gkd.3:exon18:c.A2361G:p.T787T,	UNKNOWN	Het;T>C	1055;71|48	Hom;T>C	3083;0|106
N	N	-	17	8048283	8048283	G	A	snp	synonymous SNV	C2199T	G733G	aliphatic,neutral	aliphatic,neutral	PER1	Per1	ENSG00000179094	period circadian clock 1	chr17:8043790-8059824	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]	autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer	Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PER1			https://www.ncbi.nlm.nih.gov/omim/?term=602260	http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1	rs2735611	0.570487	0.7423	0.7253	1	0	0	exonic	exonic	exonic	PER1	PER1	ENSG00000179094	synonymous SNV	synonymous SNV	unknown	PER1:NM_002616:exon18:c.C2247T:p.G749G,	PER1:uc010vur.1:exon18:c.C2199T:p.G733G,PER1:uc002gkd.3:exon18:c.C2247T:p.G749G,	UNKNOWN	Het;G>A	1678;71|77	Hom;G>A	5035;0|190
N	N	-	17	8050737	8050737	G	C	snp	intronic	 	 	 	 	PER1	Per1	ENSG00000179094	period circadian clock 1	chr17:8043790-8059824	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]	autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer	Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PER1			https://www.ncbi.nlm.nih.gov/omim/?term=602260	http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1	rs885747	0.345847	0.4701	0.3799	1	0	0	intronic	intronic	intronic	PER1	PER1	ENSG00000179094	Na	Na	Na	Na	Na	Na	Het;G>C	1251;78|56	Hom;G>C	4142;0|143
N	N	-	17	8052525	8052532	CAAAAACA	C	indel	intronic	 	 	 	 	PER1	Per1	ENSG00000179094	period circadian clock 1	chr17:8043790-8059824	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]	autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer	Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PER1			https://www.ncbi.nlm.nih.gov/omim/?term=602260	http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1	rs147233293	0.269968	0.5166	0	1	0	0	intronic	intronic	intronic	PER1	PER1	ENSG00000179094	Na	Na	Na	Na	Na	Na	Het;-AAAAACA	158;13|11	Hom;-AAAAACA	1092;2|49
N	N	-	17	8064083	8064083	T	G	snp	UTR3	*90A>C	 	 	 	VAMP2	Vamp2	ENSG00000220205	vesicle associated membrane protein 2	chr17:8062467-8066864	The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]	Type 2 diabetes; Bipolar Disorder; Epilepsy|Mental Retardation; Alzheimer's disease ; depressive disorder, major; schizophrenia	Homozygous null mutants show 10X reduction in synaptic vesicle fusion and hypertonic sucrose-induced fusion and >100X reduction in fusion triggered by fast Ca2+. Newborn pups are rounded in appearance, with humped shoulders, and die immediately.	GABA synthesis, release, reuptake and degradation	GO:0006461;protein complex assembly;ISS|GO:0006887;exocytosis;TAS|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0007269;neurotransmitter secretion;TAS|GO:0009749;response to glucose;ISS|GO:0014047;glutamate secretion;TAS|GO:0015031;protein transport;ISS|GO:0016079;synaptic vesicle exocytosis;ISS|GO:0016192;vesicle-mediated transport;ISS|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0017157;regulation of exocytosis;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0035493;SNARE complex assembly;IEA|GO:0043001;Golgi to plasma membrane protein transport;ISS|GO:0043308;eosinophil degranulation;IMP|GO:0060291;long-term synaptic potentiation;ISS|GO:0060627;regulation of vesicle-mediated transport;ISS|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;ISS|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:0098967;exocytic insertion of neurotransmitter receptor to postsynaptic membrane;IEA|GO:1902259;regulation of delayed rectifier potassium channel activity;ISS	GO:0000322;storage vacuole;IEA|GO:0005802;trans-Golgi network;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;ISS|GO:0008076;voltage-gated potassium channel complex;ISS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030141;secretory granule;ISS|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0042589;zymogen granule membrane;ISS|GO:0043005;neuron projection;IEA|GO:0043195;terminal bouton;IEA|GO:0043229;intracellular organelle;IEA|GO:0043231;intracellular membrane-bounded organelle;ISS|GO:0044306;neuron projection terminus;ISS|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0060203;clathrin-sculpted glutamate transport vesicle membrane;TAS|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS|GO:0070032;synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;ISS|GO:0070033;synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex;ISS|GO:0070044;synaptobrevin 2-SNAP-25-syntaxin-1a complex;ISS|GO:0070062;extracellular exosome;IDA|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS	GO:0000149;SNARE binding;ISS|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;ISS|GO:0005543;phospholipid binding;ISS|GO:0008022;protein C-terminus binding;IEA|GO:0017022;myosin binding;IEA|GO:0017075;syntaxin-1 binding;ISS|GO:0019905;syntaxin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0042802;identical protein binding;IEA|GO:0043621;protein self-association;TAS|GO:0044325;ion channel binding;IEA|GO:0048306;calcium-dependent protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/VAMP2			https://www.ncbi.nlm.nih.gov/omim/?term=185881	http://www.informatics.jax.org/searchtool/Search.do?query=VAMP2&submit=Quick%0D%18393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP2	rs1061032	0.740216	0	0	1	0	0	UTR3	UTR3	UTR3	VAMP2(NM_014232:c.*90A>C)	VAMP2(uc010cnt.1:c.*90A>C)	ENSG00000220205(ENST00000316509:c.*90A>C,ENST00000404970:c.*700A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	79;6|5	Hom;T>G	633;0|23
N	N	-	17	80674231	80674231	A	T	snp	upstream	 	 	 	 	FN3KRP	Fn3krp	ENSG00000141560	fructosamine 3 kinase related protein	chr17:80674559-80688204	A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]	Hemoglobin A, Glycosylated	 	Gamma carboxylation, hypusine formation and arylsulfatase activation	GO:0016310;phosphorylation;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FN3KRP	https://www.uniprot.org/uniprot/Q9HA64		https://www.ncbi.nlm.nih.gov/omim/?term=611683	http://www.informatics.jax.org/searchtool/Search.do?query=FN3KRP&submit=Quick%0D%8191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FN3KRP	rs2379356	0.16234	0	0	1	0	0	upstream	upstream	upstream	FN3KRP	FN3KRP	ENSG00000141560,ENSG00000263063	Na	Na	Na	Na	Na	Na	Het;A>T	255;5|11	Hom;A>T	433;0|16
N	N	-	17	80684245	80684245	C	G	snp	intronic	 	 	 	 	FN3KRP	Fn3krp	ENSG00000141560	fructosamine 3 kinase related protein	chr17:80674559-80688204	A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]	Hemoglobin A, Glycosylated	 	Gamma carboxylation, hypusine formation and arylsulfatase activation	GO:0016310;phosphorylation;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FN3KRP	https://www.uniprot.org/uniprot/Q9HA64		https://www.ncbi.nlm.nih.gov/omim/?term=611683	http://www.informatics.jax.org/searchtool/Search.do?query=FN3KRP&submit=Quick%0D%8191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FN3KRP	rs7406285	0.0820687	0	0	1	0	0	intronic	intronic	intronic	FN3KRP	FN3KRP	ENSG00000141560	Na	Na	Na	Na	Na	Na	Het;C>G	199;5|8	Hom;C>G	407;0|14
N	N	-	17	80763983	80763983	C	T	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs582192	0.347843	0	0	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;C>T	995;50|46	Hom;C>T	2821;0|103
N	N	-	17	80765322	80765322	C	A	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs668990	0.348243	0	0	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;C>A	44;2|3	Hom;C>A	204;0|6
N	N	-	17	8076802	8076802	T	A	snp	ncRNA_exonic	 	 	 	 	SNORD118																		rs9901637	0.56869	0.5863	0.6407	1	0	0	UTR3	UTR3	ncRNA_exonic	TMEM107(NM_032354:c.*719A>T,NM_183065:c.*719A>T)	TMEM107(uc002gkg.4:c.*719A>T,uc002gkh.4:c.*719A>T,uc002gki.4:c.*719A>T)	ENSG00000200463	Na	Na	Na	Na	Na	Na	Het;T>A	42;16|3	Hom;T>A	142;0|4
N	N	-	17	8076911	8076911	A	G	snp	UTR3	*659T>C	 	 	 	TMEM107	Tmem107	ENSG00000179029	transmembrane protein 107	chr17:8076555-8079717			Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate.		GO:0007275;multicellular organism development;IEA|GO:0008150;biological_process;ND|GO:0021532;neural tube patterning;IEA|GO:0030030;cell projection organization;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0060271;cilium assembly;ISS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IMP	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM107		https://hpo.jax.org/app/browse/search?q=TMEM107&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616183	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM107&submit=Quick%0D%14276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM107	rs11655582	0.66853	0	0.8109	1	0	0	UTR3	UTR3	UTR3	TMEM107(NM_032354:c.*610T>C,NM_183065:c.*610T>C)	TMEM107(uc002gkg.4:c.*610T>C,uc002gkh.4:c.*610T>C,uc002gki.4:c.*610T>C)	ENSG00000179029(ENST00000449985:c.*659T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	165;11|6	Hom;A>G	647;0|15
N	N	-	17	8076916	8076916	C	T	snp	UTR3	*654G>A	 	 	 	TMEM107	Tmem107	ENSG00000179029	transmembrane protein 107	chr17:8076555-8079717			Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate.		GO:0007275;multicellular organism development;IEA|GO:0008150;biological_process;ND|GO:0021532;neural tube patterning;IEA|GO:0030030;cell projection organization;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0060271;cilium assembly;ISS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IMP	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM107		https://hpo.jax.org/app/browse/search?q=TMEM107&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616183	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM107&submit=Quick%0D%14276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM107	rs11650713	0.586661	0	0.6425	1	0	0	UTR3	UTR3	UTR3	TMEM107(NM_032354:c.*605G>A,NM_183065:c.*605G>A)	TMEM107(uc002gkg.4:c.*605G>A,uc002gkh.4:c.*605G>A,uc002gki.4:c.*605G>A)	ENSG00000179029(ENST00000449985:c.*654G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	196;11|7	Hom;C>T	647;0|15
N	N	-	17	80788465	80788465	T	C	snp	synonymous SNV	A1725G	A575A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF750	Zfp750	ENSG00000141579	zinc finger protein 750	chr17:80787311-80798454	This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]	Seborrhea-like dermatitis with psoriasiform elements	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0008544;epidermis development;IMP|GO:0030154;cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF750	https://www.uniprot.org/uniprot/Q32MQ0	https://hpo.jax.org/app/browse/search?q=ZNF750&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610226	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF750&submit=Quick%0D%8200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF750	rs12938126	0.369209	0.4072	0.3896	1	0	0	exonic	exonic	exonic	ZNF750	ZNF750	ENSG00000141579	synonymous SNV	synonymous SNV	unknown	ZNF750:NM_024702:exon3:c.A1725G:p.A575A,	ZNF750:uc002kga.3:exon3:c.A1725G:p.A575A,	UNKNOWN	Het;T>C	2084;71|95	Hom;T>C	3322;0|121
N	N	-	17	80788492	80788492	A	G	snp	synonymous SNV	T1698C	P566P	hydrophobic,neutral	hydrophobic,neutral	ZNF750	Zfp750	ENSG00000141579	zinc finger protein 750	chr17:80787311-80798454	This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]	Seborrhea-like dermatitis with psoriasiform elements	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0008544;epidermis development;IMP|GO:0030154;cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF750	https://www.uniprot.org/uniprot/Q32MQ0	https://hpo.jax.org/app/browse/search?q=ZNF750&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610226	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF750&submit=Quick%0D%8200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF750	rs12948179	0.36901	0.4082	0.3898	1	0	0	exonic	exonic	exonic	ZNF750	ZNF750	ENSG00000141579	synonymous SNV	synonymous SNV	unknown	ZNF750:NM_024702:exon3:c.T1698C:p.P566P,	ZNF750:uc002kga.3:exon3:c.T1698C:p.P566P,	UNKNOWN	Het;A>G	2167;54|92	Hom;A>G	2996;0|103
N	N	-	17	8079029	8079029	G	C	snp	stopgain	C302G	S101X	polar,hydrophilic,neutral	 	TMEM107	Tmem107	ENSG00000179029	transmembrane protein 107	chr17:8076555-8079717			Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate.		GO:0007275;multicellular organism development;IEA|GO:0008150;biological_process;ND|GO:0021532;neural tube patterning;IEA|GO:0030030;cell projection organization;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0060271;cilium assembly;ISS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IMP	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM107		https://hpo.jax.org/app/browse/search?q=TMEM107&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616183	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM107&submit=Quick%0D%14276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM107	rs8064449	0.588059	0.5896	0.6426	0.25	1	4	intronic	exonic	exonic	TMEM107	TMEM107	ENSG00000179029	Na	stopgain	unknown	Na	TMEM107:uc002gkk.2:exon3:c.C302G:p.S101X,	UNKNOWN	Het;G>C	458;23|17	Hom;G>C	909;0|29
N	N	-	17	80790442	80790442	T	G	snp	UTR5	-112A>C	 	 	 	ZNF750	Zfp750	ENSG00000141579	zinc finger protein 750	chr17:80787311-80798454	This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]	Seborrhea-like dermatitis with psoriasiform elements	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0008544;epidermis development;IMP|GO:0030154;cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF750	https://www.uniprot.org/uniprot/Q32MQ0	https://hpo.jax.org/app/browse/search?q=ZNF750&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610226	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF750&submit=Quick%0D%8200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF750	rs3744165	0.790136	0	0	1	0	0	UTR5	UTR5	UTR5	ZNF750(NM_024702:c.-112A>C)	ZNF750(uc002kga.3:c.-112A>C)	ENSG00000141579(ENST00000269394:c.-112A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	315;5|10	Hom;T>G	402;0|12
N	N	-	17	80863686	80863686	C	A	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs12938172	0	0	0	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;C>A	54;4|3	Hom;C>A	228;0|8
N	N	-	17	80865526	80865526	G	A	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs2085616	0.222843	0	0	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;G>A	50;6|3	Hom;G>A	114;0|4
N	N	-	17	80867281	80867281	C	A	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs2271916	0.335863	0	0	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;C>A	689;18|27	Hom;C>A	1417;0|43
N	N	-	17	80867333	80867333	C	T	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs2271915	0.236222	0	0	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;C>T	147;4|5	Hom;C>T	596;0|14
N	N	-	17	80887244	80887244	T	C	snp	synonymous SNV	T2859C	D953D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs1127986	0.241014	0.2412	0.2507	1	0	0	exonic	exonic	exonic	TBCD	TBCD	ENSG00000141556	synonymous SNV	synonymous SNV	unknown	TBCD:NM_005993:exon32:c.T2859C:p.D953D,	TBCD:uc002kfy.1:exon32:c.T2859C:p.D953D,TBCD:uc002kgb.1:exon17:c.T834C:p.D278D,TBCD:uc002kfz.3:exon32:c.T2859C:p.D953D,	UNKNOWN	Het;T>C	2242;124|109	Hom;T>C	5826;2|209
N	N	-	17	80887451	80887451	A	G	snp	synonymous SNV	A1041G	A347A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs2034962	0.659944	0	0.6245	1	0	0	intronic	exonic	intronic	TBCD	TBCD	ENSG00000141556	Na	synonymous SNV	Na	Na	TBCD:uc002kgb.1:exon17:c.A1041G:p.A347A,	Na	Het;A>G	373;18|16	Hom;A>G	1160;0|38
N	N	-	17	80890638	80890638	T	C	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs898095	0.541733	0.4819	0.5305	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;T>C	1453;45|66	Hom;T>C	2120;0|81
N	N	-	17	80896115	80896115	C	T	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs11077949	0.143171	0	0	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;C>T	172;2|7	Hom;C>T	91;0|4
N	N	-	17	80897215	80897215	C	T	snp	intronic	 	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs3744156	0.150958	0.1589	0.2595	1	0	0	intronic	intronic	intronic	TBCD	TBCD	ENSG00000141556	Na	Na	Na	Na	Na	Na	Het;C>T	1190;47|54	Hom;C>T	2108;0|78
N	N	-	17	80899281	80899281	G	A	snp	synonymous SNV	G462A	A154A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs9390	0.429912	0.3971	0.5224	1	0	0	exonic	exonic	exonic	TBCD	TBCD	ENSG00000141556	synonymous SNV	synonymous SNV	unknown	TBCD:NM_005993:exon38:c.G3486A:p.A1162A,	TBCD:uc002kgd.3:exon6:c.G462A:p.A154A,TBCD:uc002kfy.1:exon39:c.G3600A:p.A1200A,TBCD:uc002kfz.3:exon38:c.G3486A:p.A1162A,	UNKNOWN	Het;G>A	985;53|49	Hom;G>A	2420;0|91
N	N	-	17	80901002	80901002	C	T	snp	UTR3	*663C>T	 	 	 	TBCD	Tbcd	ENSG00000278759	tubulin folding cofactor D	chr17:80709940-80900724	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]	hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 					http://www.genecards.org/index.php?path=/Search/keyword/TBCD		https://hpo.jax.org/app/browse/search?q=TBCD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604649	http://www.informatics.jax.org/searchtool/Search.do?query=TBCD&submit=Quick%0D%22134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCD	rs3603	0.152756	0	0	1	0	0	UTR3	UTR3	intronic	TBCD(NM_005993:c.*663C>T)	TBCD(uc002kfz.3:c.*663C>T,uc002kgd.3:c.*663C>T)	ENSG00000175711	Na	Na	Na	Na	Na	Na	Het;C>T	1453;67|66	Hom;C>T	3540;0|126
N	N	-	17	80901750	80901750	C	T	snp	UTR3	*200G>A	 	 	 	B3GNTL1	B3gntl1	ENSG00000277033	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	chr17:80900031-81009686		Hemoglobin A, Glycosylated	 	O-linked glycosylation of mucins			GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1			https://www.ncbi.nlm.nih.gov/omim/?term=615337	http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1	rs11077950	0.152955	0	0	1	0	0	UTR3	UTR3	UTR3	B3GNTL1(NM_001009905:c.*200G>A)	B3GNTL1(uc002kgf.1:c.*200G>A,uc002kgg.1:c.*200G>A)	ENSG00000175711(ENST00000572977:c.*200G>A,ENST00000320865:c.*200G>A,ENST00000576599:c.*200G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	2307;103|110	Hom;C>T	5772;3|218
N	N	-	17	80904844	80904844	C	T	snp	nonsynonymous SNV	G1021A	A341T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	B3GNTL1	B3gntl1	ENSG00000277033	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	chr17:80900031-81009686		Hemoglobin A, Glycosylated	 	O-linked glycosylation of mucins			GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1			https://www.ncbi.nlm.nih.gov/omim/?term=615337	http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1	rs7225887	0.15595	0.1637	0.2364	0.23	3	13	exonic	exonic	exonic	B3GNTL1	B3GNTL1	ENSG00000175711	nonsynonymous SNV	nonsynonymous SNV	unknown	B3GNTL1:NM_001009905:exon12:c.G1021A:p.A341T,	B3GNTL1:uc002kgf.1:exon12:c.G688A:p.A230T,B3GNTL1:uc002kgg.1:exon12:c.G1021A:p.A341T,	UNKNOWN	Het;C>T	1536;81|77	Hom;C>T	2591;4|104
N	N	-	17	80914988	80914988	G	T	snp	intronic	 	 	 	 	B3GNTL1	B3gntl1	ENSG00000277033	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	chr17:80900031-81009686		Hemoglobin A, Glycosylated	 	O-linked glycosylation of mucins			GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1			https://www.ncbi.nlm.nih.gov/omim/?term=615337	http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1	rs1001865	0.35024	0	0	1	0	0	intronic	intronic	intronic	B3GNTL1	B3GNTL1	ENSG00000175711	Na	Na	Na	Na	Na	Na	Het;G>T	233;2|9	Hom;G>T	521;0|20
N	N	-	17	80918787	80918787	G	T	snp	intronic	 	 	 	 	B3GNTL1	B3gntl1	ENSG00000277033	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	chr17:80900031-81009686		Hemoglobin A, Glycosylated	 	O-linked glycosylation of mucins			GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1			https://www.ncbi.nlm.nih.gov/omim/?term=615337	http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1	rs34077666	0.147963	0	0	1	0	0	intronic	intronic	intronic	B3GNTL1	B3GNTL1	ENSG00000175711	Na	Na	Na	Na	Na	Na	Het;G>T	126;5|5	Hom;G>T	224;0|7
N	N	-	17	80923432	80923432	T	C	snp	intronic	 	 	 	 	B3GNTL1	B3gntl1	ENSG00000277033	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	chr17:80900031-81009686		Hemoglobin A, Glycosylated	 	O-linked glycosylation of mucins			GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1			https://www.ncbi.nlm.nih.gov/omim/?term=615337	http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1	rs7217917	0.601438	0	0	1	0	0	intronic	intronic	intronic	B3GNTL1	B3GNTL1	ENSG00000175711	Na	Na	Na	Na	Na	Na	Het;T>C	133;2|5	Hom;T>C	188;0|7
N	N	-	17	8092694	8092694	T	G	snp	synonymous SNV	A765C	P255P	hydrophobic,neutral	hydrophobic,neutral	C17orf59	 																	rs8531	0.600639	0.7686	0.7515	0.25	1	4	exonic	exonic	exonic	C17orf59	C17orf59	ENSG00000196544	synonymous SNV	synonymous SNV	unknown	C17orf59:NM_017622:exon1:c.A765C:p.P255P,	C17orf59:uc010vut.2:exon1:c.A765C:p.P255P,	UNKNOWN	Het;T>G	1658;88|76	Hom;T>G	3506;3|123
N	N	-	17	81009636	81009636	T	G	snp	nonsynonymous SNV	A37C	S13R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	B3GNTL1	B3gntl1	ENSG00000277033	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	chr17:80900031-81009686		Hemoglobin A, Glycosylated	 	O-linked glycosylation of mucins			GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1			https://www.ncbi.nlm.nih.gov/omim/?term=615337	http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1	rs57923322	0.237021	0.1452	0.2430	0.08	1	13	exonic	exonic	exonic	B3GNTL1	B3GNTL1	ENSG00000175711	nonsynonymous SNV	nonsynonymous SNV	unknown	B3GNTL1:NM_001009905:exon1:c.A37C:p.S13R,	B3GNTL1:uc002kgg.1:exon1:c.A37C:p.S13R,	UNKNOWN	Het;T>G	273;27|16	Hom;T>G	1055;2|44
N	N	-	17	81050833	81050833	A	AG	indel	intronic	 	 	 	 	METRNL	Metrnl	ENSG00000275031	meteorin like, glial cell differentiation regulator	chr17:81037567-81052864			Mice homozygous for a null allele exhibit increased LPS-induced mortality, altered Ig serum levels and inflammation in the uterus, kidney and liver.		GO:0009409;response to cold;ISS|GO:0014850;response to muscle activity;ISS|GO:0045444;fat cell differentiation;ISS|GO:0050728;negative regulation of inflammatory response;ISS|GO:0050873;brown fat cell differentiation;ISS|GO:0090336;positive regulation of brown fat cell differentiation;ISS|GO:2000507;positive regulation of energy homeostasis;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METRNL			https://www.ncbi.nlm.nih.gov/omim/?term=616241	http://www.informatics.jax.org/searchtool/Search.do?query=METRNL&submit=Quick%0D%21256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METRNL	rs74775917	0.677117	0	0	1	0	0	intronic	intronic	intronic	METRNL	METRNL	ENSG00000176845	Na	Na	Na	Na	Na	Na	Het;+G	412;22|15	Hom;+G	1195;2|35
N	N	-	17	81050982	81050982	G	C	snp	intronic	 	 	 	 	METRNL	Metrnl	ENSG00000275031	meteorin like, glial cell differentiation regulator	chr17:81037567-81052864			Mice homozygous for a null allele exhibit increased LPS-induced mortality, altered Ig serum levels and inflammation in the uterus, kidney and liver.		GO:0009409;response to cold;ISS|GO:0014850;response to muscle activity;ISS|GO:0045444;fat cell differentiation;ISS|GO:0050728;negative regulation of inflammatory response;ISS|GO:0050873;brown fat cell differentiation;ISS|GO:0090336;positive regulation of brown fat cell differentiation;ISS|GO:2000507;positive regulation of energy homeostasis;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METRNL			https://www.ncbi.nlm.nih.gov/omim/?term=616241	http://www.informatics.jax.org/searchtool/Search.do?query=METRNL&submit=Quick%0D%21256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METRNL	rs7501742	0.565495	0.6374	0.6240	1	0	0	intronic	intronic	intronic	METRNL	METRNL	ENSG00000176845	Na	Na	Na	Na	Na	Na	Het;G>C	1640;38|49	Hom;G>C	2987;2|77
N	N	-	17	81051007	81051007	G	T	snp	intronic	 	 	 	 	METRNL	Metrnl	ENSG00000275031	meteorin like, glial cell differentiation regulator	chr17:81037567-81052864			Mice homozygous for a null allele exhibit increased LPS-induced mortality, altered Ig serum levels and inflammation in the uterus, kidney and liver.		GO:0009409;response to cold;ISS|GO:0014850;response to muscle activity;ISS|GO:0045444;fat cell differentiation;ISS|GO:0050728;negative regulation of inflammatory response;ISS|GO:0050873;brown fat cell differentiation;ISS|GO:0090336;positive regulation of brown fat cell differentiation;ISS|GO:2000507;positive regulation of energy homeostasis;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METRNL			https://www.ncbi.nlm.nih.gov/omim/?term=616241	http://www.informatics.jax.org/searchtool/Search.do?query=METRNL&submit=Quick%0D%21256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METRNL	rs7502442	0.609425	0.6898	0.6743	1	0	0	intronic	intronic	intronic	METRNL	METRNL	ENSG00000176845	Na	Na	Na	Na	Na	Na	Het;G>T	1303;28|34	Hom;G>T	2312;0|52
N	N	-	17	81052423	81052423	G	A	snp	UTR3	*103G>A	 	 	 	METRNL	Metrnl	ENSG00000275031	meteorin like, glial cell differentiation regulator	chr17:81037567-81052864			Mice homozygous for a null allele exhibit increased LPS-induced mortality, altered Ig serum levels and inflammation in the uterus, kidney and liver.		GO:0009409;response to cold;ISS|GO:0014850;response to muscle activity;ISS|GO:0045444;fat cell differentiation;ISS|GO:0050728;negative regulation of inflammatory response;ISS|GO:0050873;brown fat cell differentiation;ISS|GO:0090336;positive regulation of brown fat cell differentiation;ISS|GO:2000507;positive regulation of energy homeostasis;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METRNL			https://www.ncbi.nlm.nih.gov/omim/?term=616241	http://www.informatics.jax.org/searchtool/Search.do?query=METRNL&submit=Quick%0D%21256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METRNL	rs8269	0.547324	0	0	1	0	0	UTR3	UTR3	UTR3	METRNL(NM_001004431:c.*103G>A)	METRNL(uc002kgh.3:c.*103G>A,uc002kgi.3:c.*103G>A)	ENSG00000176845(ENST00000320095:c.*103G>A,ENST00000570778:c.*103G>A,ENST00000571814:c.*103G>A,ENST00000574053:c.*103G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	308;8|13	Hom;G>A	563;0|18
N	N	-	17	8107979	8107979	G	T	snp	downstream	 	 	 	 	AURKB	Aurkb	ENSG00000178999	aurora kinase B	chr17:8108056-8113918	This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]	Leukemia, Lymphocytic, Chronic, B-Cell; Brain Neoplasms|Glioblastoma; breast cancer	Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis.	Mitotic Prometaphase	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002903;negative regulation of B cell apoptotic process;IDA|GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0008608;attachment of spindle microtubules to kinetochore;TAS|GO:0009838;abscission;ISS|GO:0016310;phosphorylation;IEA|GO:0016570;histone modification;TAS|GO:0016925;protein sumoylation;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031577;spindle checkpoint;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032466;negative regulation of cytokinesis;ISS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0034501;protein localization to kinetochore;IMP|GO:0034644;cellular response to UV;IDA|GO:0036089;cleavage furrow formation;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043988;histone H3-S28 phosphorylation;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0051256;mitotic spindle midzone assembly;IMP|GO:0051301;cell division;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0051983;regulation of chromosome segregation;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IBA|GO:0010369;chromocenter;IEA|GO:0030496;midbody;IEA|GO:0031616;spindle pole centrosome;IBA|GO:0032133;chromosome passenger complex;IPI|GO:0051233;spindle midzone;IBA|GO:1990023;mitotic spindle midzone;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035174;histone serine kinase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AURKB			https://www.ncbi.nlm.nih.gov/omim/?term=604970	http://www.informatics.jax.org/searchtool/Search.do?query=AURKB&submit=Quick%0D%14270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AURKB	rs7503353	0.298323	0	0	1	0	0	downstream	downstream	downstream	AURKB	AURKB	ENSG00000178999	Na	Na	Na	Na	Na	Na	Het;G>T	362;5|13	Hom;G>T	517;0|16
N	N	-	17	8108331	8108331	A	G	snp	nonsynonymous SNV	T896C	M299T	hydrophobic,neutral	polar,hydrophilic,neutral	AURKB	Aurkb	ENSG00000178999	aurora kinase B	chr17:8108056-8113918	This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]	Leukemia, Lymphocytic, Chronic, B-Cell; Brain Neoplasms|Glioblastoma; breast cancer	Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis.	Mitotic Prometaphase	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002903;negative regulation of B cell apoptotic process;IDA|GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0008608;attachment of spindle microtubules to kinetochore;TAS|GO:0009838;abscission;ISS|GO:0016310;phosphorylation;IEA|GO:0016570;histone modification;TAS|GO:0016925;protein sumoylation;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031577;spindle checkpoint;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032466;negative regulation of cytokinesis;ISS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0034501;protein localization to kinetochore;IMP|GO:0034644;cellular response to UV;IDA|GO:0036089;cleavage furrow formation;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043988;histone H3-S28 phosphorylation;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0051256;mitotic spindle midzone assembly;IMP|GO:0051301;cell division;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0051983;regulation of chromosome segregation;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IBA|GO:0010369;chromocenter;IEA|GO:0030496;midbody;IEA|GO:0031616;spindle pole centrosome;IBA|GO:0032133;chromosome passenger complex;IPI|GO:0051233;spindle midzone;IBA|GO:1990023;mitotic spindle midzone;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035174;histone serine kinase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AURKB			https://www.ncbi.nlm.nih.gov/omim/?term=604970	http://www.informatics.jax.org/searchtool/Search.do?query=AURKB&submit=Quick%0D%14270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AURKB	rs1059476	0.736022	0.8219	0.8306	0.08	1	13	exonic	exonic	exonic	AURKB	AURKB	ENSG00000178999	nonsynonymous SNV	nonsynonymous SNV	unknown	AURKB:NM_001284526:exon9:c.T896C:p.M299T,AURKB:NM_004217:exon9:c.T893C:p.M298T,AURKB:NM_001256834:exon8:c.T770C:p.M257T,	AURKB:uc010cnu.3:exon7:c.T353C:p.M118T,AURKB:uc010vuu.3:exon8:c.T770C:p.M257T,AURKB:uc002gkm.4:exon9:c.T893C:p.M298T,AURKB:uc002gkn.4:exon9:c.T896C:p.M299T,AURKB:uc021tpy.1:exon8:c.T797C:p.M266T,	UNKNOWN	Het;A>G	2451;53|64	Hom;A>G	4632;0|106
N	N	-	17	8108339	8108339	G	A	snp	synonymous SNV	C345T	S115S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AURKB	Aurkb	ENSG00000178999	aurora kinase B	chr17:8108056-8113918	This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]	Leukemia, Lymphocytic, Chronic, B-Cell; Brain Neoplasms|Glioblastoma; breast cancer	Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis.	Mitotic Prometaphase	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002903;negative regulation of B cell apoptotic process;IDA|GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0008608;attachment of spindle microtubules to kinetochore;TAS|GO:0009838;abscission;ISS|GO:0016310;phosphorylation;IEA|GO:0016570;histone modification;TAS|GO:0016925;protein sumoylation;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031577;spindle checkpoint;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032466;negative regulation of cytokinesis;ISS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0034501;protein localization to kinetochore;IMP|GO:0034644;cellular response to UV;IDA|GO:0036089;cleavage furrow formation;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043988;histone H3-S28 phosphorylation;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0051256;mitotic spindle midzone assembly;IMP|GO:0051301;cell division;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0051983;regulation of chromosome segregation;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IBA|GO:0010369;chromocenter;IEA|GO:0030496;midbody;IEA|GO:0031616;spindle pole centrosome;IBA|GO:0032133;chromosome passenger complex;IPI|GO:0051233;spindle midzone;IBA|GO:1990023;mitotic spindle midzone;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035174;histone serine kinase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AURKB			https://www.ncbi.nlm.nih.gov/omim/?term=604970	http://www.informatics.jax.org/searchtool/Search.do?query=AURKB&submit=Quick%0D%14270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AURKB	rs2241909	0.620807	0.6183	0.6547	1	0	0	exonic	exonic	exonic	AURKB	AURKB	ENSG00000178999	synonymous SNV	synonymous SNV	unknown	AURKB:NM_001284526:exon9:c.C888T:p.S296S,AURKB:NM_004217:exon9:c.C885T:p.S295S,AURKB:NM_001256834:exon8:c.C762T:p.S254S,	AURKB:uc010cnu.3:exon7:c.C345T:p.S115S,AURKB:uc010vuu.3:exon8:c.C762T:p.S254S,AURKB:uc002gkm.4:exon9:c.C885T:p.S295S,AURKB:uc002gkn.4:exon9:c.C888T:p.S296S,AURKB:uc021tpy.1:exon8:c.C789T:p.S263S,	UNKNOWN	Het;G>A	2395;50|62	Hom;G>A	4480;0|100
N	N	-	17	8110764	8110764	C	A	snp	intronic	 	 	 	 	AURKB	Aurkb	ENSG00000178999	aurora kinase B	chr17:8108056-8113918	This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]	Leukemia, Lymphocytic, Chronic, B-Cell; Brain Neoplasms|Glioblastoma; breast cancer	Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis.	Mitotic Prometaphase	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002903;negative regulation of B cell apoptotic process;IDA|GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0008608;attachment of spindle microtubules to kinetochore;TAS|GO:0009838;abscission;ISS|GO:0016310;phosphorylation;IEA|GO:0016570;histone modification;TAS|GO:0016925;protein sumoylation;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031577;spindle checkpoint;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032466;negative regulation of cytokinesis;ISS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0034501;protein localization to kinetochore;IMP|GO:0034644;cellular response to UV;IDA|GO:0036089;cleavage furrow formation;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043988;histone H3-S28 phosphorylation;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0051256;mitotic spindle midzone assembly;IMP|GO:0051301;cell division;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0051983;regulation of chromosome segregation;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IBA|GO:0010369;chromocenter;IEA|GO:0030496;midbody;IEA|GO:0031616;spindle pole centrosome;IBA|GO:0032133;chromosome passenger complex;IPI|GO:0051233;spindle midzone;IBA|GO:1990023;mitotic spindle midzone;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035174;histone serine kinase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AURKB			https://www.ncbi.nlm.nih.gov/omim/?term=604970	http://www.informatics.jax.org/searchtool/Search.do?query=AURKB&submit=Quick%0D%14270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AURKB	rs2289590	0.453275	0	0	1	0	0	intronic	intronic	intronic	AURKB	AURKB	ENSG00000178999	Na	Na	Na	Na	Na	Na	Het;C>A	192;11|8	Hom;C>A	464;0|15
N	N	-	17	8123893	8123894	GA	G	indel	upstream;downstream	 	 	 	 	TRNA_Gly																		rs398030280	0.511981	0	0	1	0	0	downstream	upstream;downstream	downstream	LINC00324	TRNA_Gly;LINC00324	ENSG00000178977	Na	Na	Na	Na	Na	Na	Het;-A	40;4|4	Hom;-A	319;1|15
N	N	-	17	8124563	8124563	A	AATC	indel	ncRNA_exonic	 	 	 	 	LINC00324																		rs144382588	0.944289	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00324	LINC00324	ENSG00000178977	Na	Na	Na	Na	Na	Na	Het;+ATC	1622;73|44	Hom;+ATC	5506;0|123
N	N	-	17	8125541	8125541	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00324																		rs12938531	0.333267	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00324	LINC00324	ENSG00000178977	Na	Na	Na	Na	Na	Na	Het;A>G	153;9|7	Hom;A>G	185;0|6
N	N	-	17	8126109	8126109	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00324																		rs1017522	0.980232	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00324	LINC00324	ENSG00000178977	Na	Na	Na	Na	Na	Na	Het;C>A	649;48|32	Hom;C>A	2485;0|87
N	N	-	17	8129160	8129160	A	G	snp	UTR3	*2338T>C	 	 	 	CTC1	Ctc1	ENSG00000178971	CST telomere replication complex component 1	chr17:8130191-8151362	This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS	Mice homozygous for a targeted allele exhibit defective telomere replication that leads to stem cell exhaustion, bone marrow failure and premature death.		GO:0000723;telomere maintenance;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007568;aging;IEA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IEA|GO:0010833;telomere maintenance via telomere lengthening;IEA|GO:0016233;telomere capping;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IDA|GO:0035264;multicellular organism growth;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048539;bone marrow development;IEA|GO:0051276;chromosome organization;IEA|GO:0071425;hematopoietic stem cell proliferation;IEA|GO:0090399;replicative senescence;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:1990879;CST complex;IDA	GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CTC1		https://hpo.jax.org/app/browse/search?q=CTC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613129	http://www.informatics.jax.org/searchtool/Search.do?query=CTC1&submit=Quick%0D%14263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTC1	rs8078338	0.333067	0	0	1	0	0	UTR3	UTR3	upstream	CTC1(NM_025099:c.*2338T>C)	CTC1(uc002gkq.4:c.*2338T>C)	ENSG00000269928	Na	Na	Na	Na	Na	Na	Het;A>G	496;37|23	Hom;A>G	1947;0|62
N	N	-	17	8132763	8132763	T	C	snp	nonsynonymous SNV	A3013G	I1005V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CTC1	Ctc1	ENSG00000178971	CST telomere replication complex component 1	chr17:8130191-8151362	This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS	Mice homozygous for a targeted allele exhibit defective telomere replication that leads to stem cell exhaustion, bone marrow failure and premature death.		GO:0000723;telomere maintenance;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007568;aging;IEA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IEA|GO:0010833;telomere maintenance via telomere lengthening;IEA|GO:0016233;telomere capping;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IDA|GO:0035264;multicellular organism growth;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048539;bone marrow development;IEA|GO:0051276;chromosome organization;IEA|GO:0071425;hematopoietic stem cell proliferation;IEA|GO:0090399;replicative senescence;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:1990879;CST complex;IDA	GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CTC1		https://hpo.jax.org/app/browse/search?q=CTC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613129	http://www.informatics.jax.org/searchtool/Search.do?query=CTC1&submit=Quick%0D%14263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTC1	rs3826543	0.663538	0.8009	0.7509	0.08	1	13	exonic	exonic	exonic	CTC1	CTC1	ENSG00000178971	nonsynonymous SNV	nonsynonymous SNV	unknown	CTC1:NM_025099:exon19:c.A3013G:p.I1005V,	CTC1:uc002gkq.4:exon19:c.A3013G:p.I1005V,	UNKNOWN	Het;T>C	446;46|22	Hom;T>C	1394;0|54
N	N	-	17	8135061	8135061	T	C	snp	nonsynonymous SNV	A2458G	I820V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CTC1	Ctc1	ENSG00000178971	CST telomere replication complex component 1	chr17:8130191-8151362	This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS	Mice homozygous for a targeted allele exhibit defective telomere replication that leads to stem cell exhaustion, bone marrow failure and premature death.		GO:0000723;telomere maintenance;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007568;aging;IEA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IEA|GO:0010833;telomere maintenance via telomere lengthening;IEA|GO:0016233;telomere capping;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IDA|GO:0035264;multicellular organism growth;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048539;bone marrow development;IEA|GO:0051276;chromosome organization;IEA|GO:0071425;hematopoietic stem cell proliferation;IEA|GO:0090399;replicative senescence;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:1990879;CST complex;IDA	GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CTC1		https://hpo.jax.org/app/browse/search?q=CTC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613129	http://www.informatics.jax.org/searchtool/Search.do?query=CTC1&submit=Quick%0D%14263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTC1	rs3027238	0.9373	0.9530	0.9507	0.08	1	13	exonic	exonic	exonic	CTC1	CTC1	ENSG00000178971	nonsynonymous SNV	nonsynonymous SNV	unknown	CTC1:NM_025099:exon14:c.A2458G:p.I820V,	CTC1:uc002gkq.4:exon14:c.A2458G:p.I820V,	UNKNOWN	Het;T>C	801;36|36	Hom;T>C	1938;0|70
N	N	-	17	8137737	8137737	G	A	snp	intronic	 	 	 	 	CTC1	Ctc1	ENSG00000178971	CST telomere replication complex component 1	chr17:8130191-8151362	This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS	Mice homozygous for a targeted allele exhibit defective telomere replication that leads to stem cell exhaustion, bone marrow failure and premature death.		GO:0000723;telomere maintenance;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007568;aging;IEA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IEA|GO:0010833;telomere maintenance via telomere lengthening;IEA|GO:0016233;telomere capping;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IDA|GO:0035264;multicellular organism growth;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048539;bone marrow development;IEA|GO:0051276;chromosome organization;IEA|GO:0071425;hematopoietic stem cell proliferation;IEA|GO:0090399;replicative senescence;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:1990879;CST complex;IDA	GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CTC1		https://hpo.jax.org/app/browse/search?q=CTC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613129	http://www.informatics.jax.org/searchtool/Search.do?query=CTC1&submit=Quick%0D%14263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTC1	rs4792621	0.785543	0.8553	0.8245	1	0	0	intronic	intronic	intronic	CTC1	CTC1	ENSG00000178971	Na	Na	Na	Na	Na	Na	Het;G>A	277;11|12	Hom;G>A	738;0|26
N	N	-	17	8157310	8157310	C	T	snp	nonsynonymous SNV	C55T	P19S	hydrophobic,neutral	polar,hydrophilic,neutral	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs9891699	0.634784	0.7026	0.7432	0.08	1	13	exonic	exonic	exonic	PFAS	PFAS	ENSG00000178921	nonsynonymous SNV	nonsynonymous SNV	unknown	PFAS:NM_012393:exon2:c.C55T:p.P19S,	PFAS:uc002gkr.3:exon2:c.C55T:p.P19S,	UNKNOWN	Het;C>T	1677;70|77	Hom;C>T	3300;0|116
N	N	-	17	8158273	8158273	A	G	snp	intronic	 	 	 	 	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs6503094	0.642173	0	0	1	0	0	intronic	intronic	intronic	PFAS	PFAS	ENSG00000178921	Na	Na	Na	Na	Na	Na	Het;A>G	1003;18|36	Hom;A>G	1808;0|60
N	N	-	17	8159232	8159232	A	G	snp	intronic	 	 	 	 	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs7221716	0.784345	0.8308	0.8363	1	0	0	intronic	intronic	intronic	PFAS	PFAS	ENSG00000178921	Na	Na	Na	Na	Na	Na	Het;A>G	1691;72|79	Hom;A>G	3222;0|118
N	N	-	17	8161149	8161149	C	T	snp	nonsynonymous SNV	C1100T	P367L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs4791641	0.338858	0.4177	0.4346	0.23	3	13	exonic	exonic	exonic	PFAS	PFAS	ENSG00000178921	nonsynonymous SNV	nonsynonymous SNV	unknown	PFAS:NM_012393:exon10:c.C1100T:p.P367L,	PFAS:uc002gkr.3:exon10:c.C1100T:p.P367L,	UNKNOWN	Het;C>T	383;31|22	Hom;C>T	1290;0|49
N	N	-	17	8166378	8166378	T	C	snp	intronic	 	 	 	 	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs7206953	0.583466	0.6342	0.6945	1	0	0	intronic	intronic	intronic	PFAS	PFAS	ENSG00000178921	Na	Na	Na	Na	Na	Na	Het;T>C	797;41|32	Hom;T>C	2434;0|86
N	N	-	17	8167600	8167600	T	C	snp	nonsynonymous SNV	T1862C	L621P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs11078738	0.525759	0.6903	0.6513	0.08	1	13	exonic	exonic	exonic	PFAS	PFAS	ENSG00000178921	nonsynonymous SNV	nonsynonymous SNV	unknown	PFAS:NM_012393:exon16:c.T1862C:p.L621P,	PFAS:uc002gkr.3:exon16:c.T1862C:p.L621P,PFAS:uc010cnw.1:exon4:c.T362C:p.L121P,PFAS:uc010vuv.2:exon14:c.T590C:p.L197P,	UNKNOWN	Het;T>C	2456;94|116	Hom;T>C	4992;0|179
N	N	-	17	8168224	8168224	T	C	snp	synonymous SNV	T2061C	S687S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs9902252	0.529353	0.6979	0.7059	1	0	0	exonic	exonic	exonic	PFAS	PFAS	ENSG00000178921	synonymous SNV	synonymous SNV	unknown	PFAS:NM_012393:exon18:c.T2061C:p.S687S,	PFAS:uc002gkr.3:exon18:c.T2061C:p.S687S,PFAS:uc010vuv.2:exon16:c.T789C:p.S263S,	UNKNOWN	Het;T>C	602;30|24	Hom;T>C	1122;3|41
N	N	-	17	8168805	8168805	A	G	snp	intronic	 	 	 	 	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs9897842	0.547923	0.7094	0.6706	1	0	0	intronic	intronic	intronic	PFAS	PFAS	ENSG00000178921	Na	Na	Na	Na	Na	Na	Het;A>G	1602;86|74	Hom;A>G	3990;2|147
N	N	-	17	8169006	8169006	T	C	snp	intronic	 	 	 	 	PFAS	Pfas	ENSG00000178921	phosphoribosylformylglycinamidine synthase	chr17:8150936-8173809	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFAS			https://www.ncbi.nlm.nih.gov/omim/?term=602133	http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS	rs11655563	0.634585	0.7684	0.7437	1	0	0	intronic	intronic	intronic	PFAS	PFAS	ENSG00000178921	Na	Na	Na	Na	Na	Na	Het;T>C	583;30|26	Hom;T>C	1109;2|39
N	N	-	17	8194318	8194318	G	A	snp	intronic	 	 	 	 	SLC25A35	Slc25a35	ENSG00000125434	solute carrier family 25 member 35	chr17:8191081-8198661	SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0022857;transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A35	https://www.uniprot.org/uniprot/Q3KQZ1		https://www.ncbi.nlm.nih.gov/omim/?term=610818	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A35&submit=Quick%0D%5772ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A35	rs72835272	0.314297	0.3911	0.4301	1	0	0	intronic	intronic	intronic	SLC25A35	SLC25A35	ENSG00000125434	Na	Na	Na	Na	Na	Na	Het;G>A	957;15|25	Hom;G>A	966;0|23
N	N	-	17	8194319	8194319	T	C	snp	intronic	 	 	 	 	SLC25A35	Slc25a35	ENSG00000125434	solute carrier family 25 member 35	chr17:8191081-8198661	SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0022857;transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A35	https://www.uniprot.org/uniprot/Q3KQZ1		https://www.ncbi.nlm.nih.gov/omim/?term=610818	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A35&submit=Quick%0D%5772ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A35	rs6503098	0.598442	0.7330	0.7196	1	0	0	intronic	intronic	intronic	SLC25A35	SLC25A35	ENSG00000125434	Na	Na	Na	Na	Na	Na	Het;T>C	957;15|23	Hom;T>C	966;0|21
N	N	-	17	8283379	8283379	C	G	snp	ncRNA_intronic	 	 	 	 	AC135178.3																		rs409445	0.182907	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RPL26	RPL26	ENSG00000265749	Na	Na	Na	Na	Na	Na	Het;C>G	75;7|5	Hom;C>G	152;0|6
N	N	-	17	8285398	8285398	T	C	snp	intronic	 	 	 	 	RPL26	Rpl26	ENSG00000161970	ribosomal protein L26	chr17:8280838-8286531	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	DIAMOND-BLACKFAN ANEMIA 11	 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;TAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;IMP|GO:0019083;viral transcription;TAS|GO:0034644;cellular response to UV;IMP|GO:0042273;ribosomal large subunit biogenesis;IMP|GO:0045727;positive regulation of translation;IMP|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071480;cellular response to gamma radiation;IDA|GO:1902164;positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IMP|GO:1902167;positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IMP|GO:1904803;regulation of translation involved in cellular response to UV;IMP	GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0015934;large ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;TAS|GO:0022626;cytosolic ribosome;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990904;ribonucleoprotein complex;IMP	GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;TAS|GO:0005515;protein binding;IPI|GO:0048027;mRNA 5'-UTR binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RPL26		https://hpo.jax.org/app/browse/search?q=RPL26&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603704	http://www.informatics.jax.org/searchtool/Search.do?query=RPL26&submit=Quick%0D%10632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL26	rs422679	0.60643	0	0	1	0	0	intronic	intronic	intronic	RPL26	RPL26	ENSG00000161970,ENSG00000263809	Na	Na	Na	Na	Na	Na	Het;T>C	198;7|10	Hom;T>C	150;0|6
N	N	-	17	8296383	8296383	C	T	snp	nonsynonymous SNV	G397A	A133T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	RNF222	Rnf222	ENSG00000189051	ring finger protein 222	chr17:8294022-8301144			 		GO:0016567;protein ubiquitination;IBA|GO:0033234;negative regulation of protein sumoylation;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033768;SUMO-targeted ubiquitin ligase complex;IBA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNF222				http://www.informatics.jax.org/searchtool/Search.do?query=RNF222&submit=Quick%0D%16168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF222	rs12601362	0.183307	0.1831	0.3492	0.08	1	12	exonic	exonic	exonic	RNF222	RNF222	ENSG00000189051	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF222:NM_001146684:exon3:c.G397A:p.A133T,	RNF222:uc021tqa.1:exon1:c.G397A:p.A133T,RNF222:uc010vuy.1:exon3:c.G397A:p.A133T,	UNKNOWN	Het;C>T	832;31|37	Hom;C>T	2026;0|71
N	N	-	17	8296440	8296440	G	A	snp	nonsynonymous SNV	C340T	P114S	hydrophobic,neutral	polar,hydrophilic,neutral	RNF222	Rnf222	ENSG00000189051	ring finger protein 222	chr17:8294022-8301144			 		GO:0016567;protein ubiquitination;IBA|GO:0033234;negative regulation of protein sumoylation;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033768;SUMO-targeted ubiquitin ligase complex;IBA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNF222				http://www.informatics.jax.org/searchtool/Search.do?query=RNF222&submit=Quick%0D%16168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF222	rs12601265	0.652556	0	0.7207	0.08	1	12	exonic	exonic	exonic	RNF222	RNF222	ENSG00000189051	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF222:NM_001146684:exon3:c.C340T:p.P114S,	RNF222:uc021tqa.1:exon1:c.C340T:p.P114S,RNF222:uc010vuy.1:exon3:c.C340T:p.P114S,	UNKNOWN	Het;G>A	1059;39|40	Hom;G>A	2521;0|92
N	N	-	17	848176	848176	A	G	snp	intronic	 	 	 	 	NXN	Nxn	ENSG00000281300	nucleoredoxin	chr17:702553-883010	This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]	Bipolar Disorder	Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate.					http://www.genecards.org/index.php?path=/Search/keyword/NXN		https://hpo.jax.org/app/browse/search?q=NXN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612895	http://www.informatics.jax.org/searchtool/Search.do?query=NXN&submit=Quick%0D%22290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXN	rs12936197	0.65595	0	0	1	0	0	intronic	intronic	intronic	NXN	NXN	ENSG00000167693	Na	Na	Na	Na	Na	Na	Het;A>G	237;7|10	Hom;A>G	359;0|11
N	N	-	17	848217	848217	A	C	snp	intronic	 	 	 	 	NXN	Nxn	ENSG00000281300	nucleoredoxin	chr17:702553-883010	This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]	Bipolar Disorder	Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate.					http://www.genecards.org/index.php?path=/Search/keyword/NXN		https://hpo.jax.org/app/browse/search?q=NXN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612895	http://www.informatics.jax.org/searchtool/Search.do?query=NXN&submit=Quick%0D%22290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXN	rs12936224	0.65615	0	0	1	0	0	intronic	intronic	intronic	NXN	NXN	ENSG00000167693	Na	Na	Na	Na	Na	Na	Het;A>C	491;22|14	Hom;A>C	1596;0|35
N	N	-	17	848218	848218	G	A	snp	intronic	 	 	 	 	NXN	Nxn	ENSG00000281300	nucleoredoxin	chr17:702553-883010	This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]	Bipolar Disorder	Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate.					http://www.genecards.org/index.php?path=/Search/keyword/NXN		https://hpo.jax.org/app/browse/search?q=NXN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612895	http://www.informatics.jax.org/searchtool/Search.do?query=NXN&submit=Quick%0D%22290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXN	rs12947175	0.654353	0	0	1	0	0	intronic	intronic	intronic	NXN	NXN	ENSG00000167693	Na	Na	Na	Na	Na	Na	Het;G>A	491;23|14	Hom;G>A	1596;0|37
N	N	-	17	848269	848269	C	T	snp	intronic	 	 	 	 	NXN	Nxn	ENSG00000281300	nucleoredoxin	chr17:702553-883010	This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]	Bipolar Disorder	Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate.					http://www.genecards.org/index.php?path=/Search/keyword/NXN		https://hpo.jax.org/app/browse/search?q=NXN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612895	http://www.informatics.jax.org/searchtool/Search.do?query=NXN&submit=Quick%0D%22290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXN	rs12940087	0.642772	0	0	1	0	0	intronic	intronic	intronic	NXN	NXN	ENSG00000167693	Na	Na	Na	Na	Na	Na	Het;C>T	410;39|22	Hom;C>T	1473;0|58
N	N	-	17	848415	848415	G	A	snp	intronic	 	 	 	 	NXN	Nxn	ENSG00000281300	nucleoredoxin	chr17:702553-883010	This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]	Bipolar Disorder	Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate.					http://www.genecards.org/index.php?path=/Search/keyword/NXN		https://hpo.jax.org/app/browse/search?q=NXN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612895	http://www.informatics.jax.org/searchtool/Search.do?query=NXN&submit=Quick%0D%22290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NXN	rs12947776	0.625599	0	0	1	0	0	intronic	intronic	intronic	NXN	NXN	ENSG00000167693	Na	Na	Na	Na	Na	Na	Het;G>A	106;3|4	Hom;G>A	126;0|4
N	N	-	17	9079488	9079489	GC	G	indel	ncRNA_exonic	 	 	 	 	LOC101928266																		rs55959301	0.632388	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101928266	NTN1	ENSG00000262966	Na	Na	Na	Na	Na	Na	Het;-C	4106;148|162	Hom;-C	8569;0|272
N	N	-	17	9153861	9153861	G	C	snp	UTR3	*34C>G	 	 	 	STX8	Stx8	ENSG00000170310	syntaxin 8	chr17:9153788-9479908	The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]	Tobacco Use Disorder; Colitis, Ulcerative|Crohn Disease|; Intra-Abdominal Fat; C-Reactive Protein; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Follicle Stimulating Hormone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for a knock-out allele exhibit defects in platelet dense granule secretion, aggregation, and thrombus stability.		GO:0006810;transport;TAS|GO:0006886;intracellular protein transport;IBA|GO:0006906;vesicle fusion;IEA|GO:0008333;endosome to lysosome transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045022;early endosome to late endosome transport;IDA|GO:0048278;vesicle docking;IBA|GO:0065009;regulation of molecular function;IEA|GO:1903076;regulation of protein localization to plasma membrane;IDA	GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005783;endoplasmic reticulum;TAS|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STX8			https://www.ncbi.nlm.nih.gov/omim/?term=604203	http://www.informatics.jax.org/searchtool/Search.do?query=STX8&submit=Quick%0D%12674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX8	rs8974	0.376597	0.5120	0.5595	1	0	0	UTR3	UTR3	UTR3	STX8(NM_004853:c.*34C>G)	STX8(uc002glx.3:c.*34C>G,uc021tqd.1:c.*34C>G)	ENSG00000170310(ENST00000306357:c.*34C>G,ENST00000575858:c.*404C>G,ENST00000574431:c.*34C>G,ENST00000575294:c.*258C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	1296;96|66	Hom;G>C	3669;0|134
N	N	-	17	9154078	9154078	G	C	snp	intronic	 	 	 	 	STX8	Stx8	ENSG00000170310	syntaxin 8	chr17:9153788-9479908	The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]	Tobacco Use Disorder; Colitis, Ulcerative|Crohn Disease|; Intra-Abdominal Fat; C-Reactive Protein; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Follicle Stimulating Hormone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for a knock-out allele exhibit defects in platelet dense granule secretion, aggregation, and thrombus stability.		GO:0006810;transport;TAS|GO:0006886;intracellular protein transport;IBA|GO:0006906;vesicle fusion;IEA|GO:0008333;endosome to lysosome transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045022;early endosome to late endosome transport;IDA|GO:0048278;vesicle docking;IBA|GO:0065009;regulation of molecular function;IEA|GO:1903076;regulation of protein localization to plasma membrane;IDA	GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005783;endoplasmic reticulum;TAS|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STX8			https://www.ncbi.nlm.nih.gov/omim/?term=604203	http://www.informatics.jax.org/searchtool/Search.do?query=STX8&submit=Quick%0D%12674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX8	rs17743659	0.408147	0	0	1	0	0	intronic	intronic	intronic	STX8	STX8	ENSG00000170310	Na	Na	Na	Na	Na	Na	Het;G>C	42;4|3	Hom;G>C	175;0|5
N	N	-	17	9515777	9515777	G	A	snp	nonsynonymous SNV	G1006A	E336K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	CFAP52	Cfap52																	rs6503235	0.599641	0.6380	0.7106	0.15	2	13	exonic	exonic	exonic	CFAP52	WDR16	ENSG00000166596	nonsynonymous SNV	nonsynonymous SNV	unknown	CFAP52:NM_145054:exon8:c.G1006A:p.E336K,CFAP52:NM_001080556:exon7:c.G802A:p.E268K,	WDR16:uc002gly.3:exon8:c.G1006A:p.E336K,WDR16:uc002glz.3:exon7:c.G802A:p.E268K,WDR16:uc010coc.3:exon9:c.G1036A:p.E346K,	UNKNOWN	Het;G>A	597;39|30	Hom;G>A	1874;0|71
N	N	-	17	960221	960221	C	G	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2304959	0.721446	0.6531	0.6875	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;C>G	737;21|31	Hom;C>G	997;0|36
N	N	-	17	961149	961149	T	A	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs9912632	0.721046	0.6566	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;T>A	233;8|9	Hom;T>A	429;0|17
N	N	-	17	961304	961304	C	A	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2260448	0.854034	0.7550	0.8018	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;C>A	625;23|30	Hom;C>A	1467;0|57
N	N	-	17	961900	961900	G	A	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2304961	0.720647	0	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;G>A	232;5|9	Hom;G>A	283;0|10
N	N	-	17	970251	970251	T	C	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2258097	0.896965	0	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;T>C	60;9|3	Hom;T>C	512;0|12
N	N	-	17	970252	970252	G	A	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs7216092	0.733826	0	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;G>A	60;9|3	Hom;G>A	512;0|12
N	N	-	17	970413	970413	C	T	snp	synonymous SNV	G738A	E246E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2262150	0.896965	0.8658	0.9130	1	0	0	exonic	exonic	exonic	ABR	ABR	ENSG00000159842	synonymous SNV	synonymous SNV	unknown	ABR:NM_001092:exon9:c.G975A:p.E325E,ABR:NM_001282149:exon5:c.G432A:p.E144E,ABR:NM_001159746:exon10:c.G948A:p.E316E,ABR:NM_021962:exon10:c.G1086A:p.E362E,	ABR:uc002fsh.1:exon7:c.G738A:p.E246E,ABR:uc010vqg.3:exon5:c.G432A:p.E144E,ABR:uc002fsg.4:exon9:c.G975A:p.E325E,ABR:uc002fsd.4:exon10:c.G1086A:p.E362E,ABR:uc002fse.4:exon10:c.G948A:p.E316E,	UNKNOWN	Het;C>T	686;32|38	Hom;C>T	1889;0|71
N	N	-	17	970561	970561	G	A	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs3826527	0.733826	0	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;G>A	264;4|9	Hom;G>A	690;0|18
N	N	-	17	970571	970573	CAG	C	indel	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs147449579	0.733626	0	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;-AG	229;3|6	Hom;-AG	580;0|14
N	N	-	17	970601	970601	A	C	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2262155	0.896965	0	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;A>C	39;3|3	Hom;A>C	305;0|10
N	N	-	17	976711	976711	T	C	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2258893	0.961262	0	0	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;T>C	47;2|3	Hom;T>C	217;0|6
N	N	-	17	9830171	9830171	C	T	snp	intronic	 	 	 	 	GAS7	Gas7	ENSG00000007237	growth arrest specific 7	chr17:9813926-10101868	Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Iron; Tobacco Use Disorder; Body Height; ulcerative colitis; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	Aged mice homozygous for a hypomorphic allele show impaired coordination, decreased grip strength, decreased motor neuron number, muscle weakness, abnormal skeletal muscle fiber type ratio in the soleus muscle, and defects in motor neuron axon terminal sprouting.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAS7	https://www.uniprot.org/uniprot/O60861		https://www.ncbi.nlm.nih.gov/omim/?term=603127	http://www.informatics.jax.org/searchtool/Search.do?query=GAS7&submit=Quick%0D%436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS7	rs56199323	0.297923	0	0	1	0	0	intronic	intronic	intronic	GAS7	GAS7	ENSG00000007237	Na	Na	Na	Na	Na	Na	Het;C>T	556;10|26	Hom;C>T	851;0|29
N	N	-	17	9846521	9846521	G	C	snp	synonymous SNV	C456G	T152T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GAS7	Gas7	ENSG00000007237	growth arrest specific 7	chr17:9813926-10101868	Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Iron; Tobacco Use Disorder; Body Height; ulcerative colitis; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	Aged mice homozygous for a hypomorphic allele show impaired coordination, decreased grip strength, decreased motor neuron number, muscle weakness, abnormal skeletal muscle fiber type ratio in the soleus muscle, and defects in motor neuron axon terminal sprouting.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAS7	https://www.uniprot.org/uniprot/O60861		https://www.ncbi.nlm.nih.gov/omim/?term=603127	http://www.informatics.jax.org/searchtool/Search.do?query=GAS7&submit=Quick%0D%436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS7	rs17339499	0.138179	0.2059	0.1955	1	0	0	exonic	exonic	exonic	GAS7	GAS7	ENSG00000007237	synonymous SNV	synonymous SNV	unknown	GAS7:NM_201432:exon7:c.C468G:p.T156T,GAS7:NM_201433:exon7:c.C648G:p.T216T,GAS7:NM_003644:exon3:c.C228G:p.T76T,GAS7:NM_001130831:exon7:c.C456G:p.T152T,	GAS7:uc002gmi.2:exon7:c.C456G:p.T152T,GAS7:uc002gmg.1:exon7:c.C648G:p.T216T,GAS7:uc010vvd.1:exon6:c.C504G:p.T168T,GAS7:uc010coh.1:exon8:c.C468G:p.T156T,GAS7:uc002gmj.1:exon7:c.C468G:p.T156T,GAS7:uc002gmh.1:exon3:c.C228G:p.T76T,GAS7:uc010vvc.1:exon3:c.C90G:p.T30T,	UNKNOWN	Het;G>C	631;38|29	Hom;G>C	1170;0|44
N	N	-	17	9846631	9846631	G	A	snp	intronic	 	 	 	 	GAS7	Gas7	ENSG00000007237	growth arrest specific 7	chr17:9813926-10101868	Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Iron; Tobacco Use Disorder; Body Height; ulcerative colitis; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	Aged mice homozygous for a hypomorphic allele show impaired coordination, decreased grip strength, decreased motor neuron number, muscle weakness, abnormal skeletal muscle fiber type ratio in the soleus muscle, and defects in motor neuron axon terminal sprouting.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAS7	https://www.uniprot.org/uniprot/O60861		https://www.ncbi.nlm.nih.gov/omim/?term=603127	http://www.informatics.jax.org/searchtool/Search.do?query=GAS7&submit=Quick%0D%436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS7	rs8066006	0.309305	0	0	1	0	0	intronic	intronic	intronic	GAS7	GAS7	ENSG00000007237	Na	Na	Na	Na	Na	Na	Het;G>A	498;20|22	Hom;G>A	708;0|25
N	N	-	17	9846724	9846724	C	A	snp	intronic	 	 	 	 	GAS7	Gas7	ENSG00000007237	growth arrest specific 7	chr17:9813926-10101868	Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Iron; Tobacco Use Disorder; Body Height; ulcerative colitis; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	Aged mice homozygous for a hypomorphic allele show impaired coordination, decreased grip strength, decreased motor neuron number, muscle weakness, abnormal skeletal muscle fiber type ratio in the soleus muscle, and defects in motor neuron axon terminal sprouting.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GAS7	https://www.uniprot.org/uniprot/O60861		https://www.ncbi.nlm.nih.gov/omim/?term=603127	http://www.informatics.jax.org/searchtool/Search.do?query=GAS7&submit=Quick%0D%436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS7	rs733804	0.283746	0	0	1	0	0	intronic	intronic	intronic	GAS7	GAS7	ENSG00000007237	Na	Na	Na	Na	Na	Na	Het;C>A	66;3|3	Hom;C>A	95;0|4
N	N	-	17	986742	986742	A	G	snp	intronic	 	 	 	 	ABR	Abr	ENSG00000278741	active BCR-related	chr17:906758-1132315	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder	Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.	G alpha (12/13) signalling events	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABR			https://www.ncbi.nlm.nih.gov/omim/?term=600365	http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR	rs2257468	0.461462	0.3939	0.4281	1	0	0	intronic	intronic	intronic	ABR	ABR	ENSG00000159842	Na	Na	Na	Na	Na	Na	Het;A>G	568;41|30	Hom;A>G	2254;1|85
N	N	-	18	10413374	10413374	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01254																		rs72975477	0.221246	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01254	AX747048(dist=165776),APCDD1(dist=41251)	ENSG00000260913	Na	Na	Na	Na	Na	Na	Het;A>G	1871;101|90	Hom;A>G	4736;0|164
N	N	-	18	10413583	10413583	G	T	snp	ncRNA_exonic	 	 	 	 	LINC01254																		rs72975480	0.129792	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01254	AX747048(dist=165985),APCDD1(dist=41042)	ENSG00000260913	Na	Na	Na	Na	Na	Na	Het;G>T	1552;73|68	Hom;G>T	2740;1|100
N	N	-	18	10414078	10414078	A	T	snp	ncRNA_exonic	 	 	 	 	LINC01254																		rs17542429	0.220647	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01254	AX747048(dist=166480),APCDD1(dist=40547)	ENSG00000260913	Na	Na	Na	Na	Na	Na	Het;A>T	1628;97|78	Hom;A>T	3673;2|141
N	N	-	18	10414132	10414132	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01254																		rs58982410	0.142971	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01254	AX747048(dist=166534),APCDD1(dist=40493)	ENSG00000260913	Na	Na	Na	Na	Na	Na	Het;C>T	1192;71|52	Hom;C>T	3416;2|127
N	N	-	18	10485357	10485357	T	C	snp	intronic	 	 	 	 	APCDD1	Apcdd1	ENSG00000154856	APC down-regulated 1	chr18:10454625-10489945	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]	Blood Pressure Determination; Stroke; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	 		GO:0001942;hair follicle development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0043615;astrocyte cell migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017147;Wnt-protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APCDD1	https://www.uniprot.org/uniprot/Q8J025	https://hpo.jax.org/app/browse/search?q=APCDD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607479	http://www.informatics.jax.org/searchtool/Search.do?query=APCDD1&submit=Quick%0D%9816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APCDD1	rs489837	0.571685	0	0	1	0	0	intronic	intronic	intronic	APCDD1	APCDD1	ENSG00000154856	Na	Na	Na	Na	Na	Na	Het;T>C	551;16|14	Hom;T>C	1052;0|21
N	N	-	18	10485363	10485363	T	C	snp	intronic	 	 	 	 	APCDD1	Apcdd1	ENSG00000154856	APC down-regulated 1	chr18:10454625-10489945	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]	Blood Pressure Determination; Stroke; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	 		GO:0001942;hair follicle development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0043615;astrocyte cell migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017147;Wnt-protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APCDD1	https://www.uniprot.org/uniprot/Q8J025	https://hpo.jax.org/app/browse/search?q=APCDD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607479	http://www.informatics.jax.org/searchtool/Search.do?query=APCDD1&submit=Quick%0D%9816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APCDD1	rs91958	0.5623	0	0	1	0	0	intronic	intronic	intronic	APCDD1	APCDD1	ENSG00000154856	Na	Na	Na	Na	Na	Na	Het;T>C	548;18|15	Hom;T>C	1212;0|27
N	N	-	18	10485369	10485369	G	A	snp	intronic	 	 	 	 	APCDD1	Apcdd1	ENSG00000154856	APC down-regulated 1	chr18:10454625-10489945	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]	Blood Pressure Determination; Stroke; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	 		GO:0001942;hair follicle development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0043615;astrocyte cell migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017147;Wnt-protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APCDD1	https://www.uniprot.org/uniprot/Q8J025	https://hpo.jax.org/app/browse/search?q=APCDD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607479	http://www.informatics.jax.org/searchtool/Search.do?query=APCDD1&submit=Quick%0D%9816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APCDD1	rs91959	0.5625	0	0	1	0	0	intronic	intronic	intronic	APCDD1	APCDD1	ENSG00000154856	Na	Na	Na	Na	Na	Na	Het;G>A	539;21|15	Hom;G>A	1329;0|32
N	N	-	18	10487443	10487443	T	C	snp	intronic	 	 	 	 	APCDD1	Apcdd1	ENSG00000154856	APC down-regulated 1	chr18:10454625-10489945	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]	Blood Pressure Determination; Stroke; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	 		GO:0001942;hair follicle development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0043615;astrocyte cell migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017147;Wnt-protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APCDD1	https://www.uniprot.org/uniprot/Q8J025	https://hpo.jax.org/app/browse/search?q=APCDD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607479	http://www.informatics.jax.org/searchtool/Search.do?query=APCDD1&submit=Quick%0D%9816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APCDD1	rs538795	0.533147	0	0	1	0	0	intronic	intronic	intronic	APCDD1	APCDD1	ENSG00000154856	Na	Na	Na	Na	Na	Na	Het;T>C	111;3|4	Hom;T>C	131;0|4
N	N	-	18	10487918	10487918	C	T	snp	synonymous SNV	C1428T	L476L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	APCDD1	Apcdd1	ENSG00000154856	APC down-regulated 1	chr18:10454625-10489945	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]	Blood Pressure Determination; Stroke; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	 		GO:0001942;hair follicle development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0043615;astrocyte cell migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017147;Wnt-protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APCDD1	https://www.uniprot.org/uniprot/Q8J025	https://hpo.jax.org/app/browse/search?q=APCDD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607479	http://www.informatics.jax.org/searchtool/Search.do?query=APCDD1&submit=Quick%0D%9816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APCDD1	rs3185480	0.409944	0.3528	0.4297	1	0	0	exonic	exonic	exonic	APCDD1	APCDD1	ENSG00000154856	synonymous SNV	synonymous SNV	unknown	APCDD1:NM_153000:exon5:c.C1428T:p.L476L,	APCDD1:uc002kom.4:exon5:c.C1428T:p.L476L,	UNKNOWN	Het;C>T	1468;112|75	Hom;C>T	3476;1|128
N	N	-	18	10488064	10488064	C	T	snp	UTR3	*29C>T	 	 	 	APCDD1	Apcdd1	ENSG00000154856	APC down-regulated 1	chr18:10454625-10489945	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]	Blood Pressure Determination; Stroke; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	 		GO:0001942;hair follicle development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0043615;astrocyte cell migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017147;Wnt-protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APCDD1	https://www.uniprot.org/uniprot/Q8J025	https://hpo.jax.org/app/browse/search?q=APCDD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607479	http://www.informatics.jax.org/searchtool/Search.do?query=APCDD1&submit=Quick%0D%9816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APCDD1	rs3811368	0.108027	0.0823	0.1315	1	0	0	UTR3	UTR3	UTR3	APCDD1(NM_153000:c.*29C>T)	APCDD1(uc002kom.4:c.*29C>T)	ENSG00000154856(ENST00000355285:c.*29C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	550;42|25	Hom;C>T	1386;1|50
N	N	-	18	10488091	10488091	G	T	snp	UTR3	*56G>T	 	 	 	APCDD1	Apcdd1	ENSG00000154856	APC down-regulated 1	chr18:10454625-10489945	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]	Blood Pressure Determination; Stroke; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder	 		GO:0001942;hair follicle development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0043615;astrocyte cell migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017147;Wnt-protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APCDD1	https://www.uniprot.org/uniprot/Q8J025	https://hpo.jax.org/app/browse/search?q=APCDD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607479	http://www.informatics.jax.org/searchtool/Search.do?query=APCDD1&submit=Quick%0D%9816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APCDD1	rs1045584	0.50639	0	0	1	0	0	UTR3	UTR3	UTR3	APCDD1(NM_153000:c.*56G>T)	APCDD1(uc002kom.4:c.*56G>T)	ENSG00000154856(ENST00000355285:c.*56G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	221;22|12	Hom;G>T	916;1|32
N	N	-	18	10530928	10530928	T	C	snp	intronic	 	 	 	 	NAPG	Napg	ENSG00000134265	NSF attachment protein gamma	chr18:10525902-10552758	This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]	Carotid Stenosis; Bipolar Disorder; bipolar disorder; Tumor Necrosis Factor-alpha	 	Retrograde transport at the Trans-Golgi-Network	GO:0006461;protein complex assembly;NAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0050821;protein stabilization;NAS|GO:0061025;membrane fusion;TAS	GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IDA|GO:0005765;lysosomal membrane;IDA|GO:0016020;membrane;IEA|GO:0031201;SNARE complex;IBA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA	GO:0005483;soluble NSF attachment protein activity;IBA|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/NAPG	https://www.uniprot.org/uniprot/Q99747		https://www.ncbi.nlm.nih.gov/omim/?term=603216	http://www.informatics.jax.org/searchtool/Search.do?query=NAPG&submit=Quick%0D%6947ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAPG	rs509370	0.615815	0	0	1	0	0	intronic	intronic	intronic	NAPG	NAPG	ENSG00000134265	Na	Na	Na	Na	Na	Na	Het;T>C	129;13|6	Hom;T>C	618;0|18
N	N	-	18	10616992	10616992	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01887																		rs542655	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NAPG(dist=64226),LOC101927410(dist=44938)	NAPG(dist=64226),PIEZO2(dist=53252)	ENSG00000266604	Na	Na	Na	Na	Na	Na	Het;A>G	602;8|26	Hom;A>G	865;0|29
N	N	-	18	10757888	10757888	G	A	snp	intronic	 	 	 	 	PIEZO2	Piezo2	ENSG00000154864	piezo type mechanosensitive ion channel component 2	chr18:10666480-11148587	The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Myocardial Infarction; Hip; Urinalysis; Alzheimer Disease; Heart Rate; Carcinoma, Non-Small-Cell Lung	Mice homozygous for a null allele exhibit impaired injury-induced tactile pain detection.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0009612;response to mechanical stimulus;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050896;response to stimulus;IEA|GO:0050974;detection of mechanical stimulus involved in sensory perception;ISS|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO2	https://www.uniprot.org/uniprot/Q9H5I5	https://hpo.jax.org/app/browse/search?q=PIEZO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613629	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO2&submit=Quick%0D%9817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO2	rs7407954	0.197883	0	0	1	0	0	intronic	intronic	intronic	PIEZO2	PIEZO2	ENSG00000154864	Na	Na	Na	Na	Na	Na	Het;G>A	253;5|10	Hom;G>A	517;0|16
N	N	-	18	10758284	10758284	T	C	snp	intronic	 	 	 	 	PIEZO2	Piezo2	ENSG00000154864	piezo type mechanosensitive ion channel component 2	chr18:10666480-11148587	The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Myocardial Infarction; Hip; Urinalysis; Alzheimer Disease; Heart Rate; Carcinoma, Non-Small-Cell Lung	Mice homozygous for a null allele exhibit impaired injury-induced tactile pain detection.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0009612;response to mechanical stimulus;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050896;response to stimulus;IEA|GO:0050974;detection of mechanical stimulus involved in sensory perception;ISS|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO2	https://www.uniprot.org/uniprot/Q9H5I5	https://hpo.jax.org/app/browse/search?q=PIEZO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613629	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO2&submit=Quick%0D%9817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO2	rs79054145	0.198083	0	0	1	0	0	intronic	intronic	intronic	PIEZO2	PIEZO2	ENSG00000154864	Na	Na	Na	Na	Na	Na	Het;T>C	152;4|6	Hom;T>C	137;0|5
N	N	-	18	10763132	10763132	C	T	snp	intronic	 	 	 	 	PIEZO2	Piezo2	ENSG00000154864	piezo type mechanosensitive ion channel component 2	chr18:10666480-11148587	The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Myocardial Infarction; Hip; Urinalysis; Alzheimer Disease; Heart Rate; Carcinoma, Non-Small-Cell Lung	Mice homozygous for a null allele exhibit impaired injury-induced tactile pain detection.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0009612;response to mechanical stimulus;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050896;response to stimulus;IEA|GO:0050974;detection of mechanical stimulus involved in sensory perception;ISS|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO2	https://www.uniprot.org/uniprot/Q9H5I5	https://hpo.jax.org/app/browse/search?q=PIEZO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613629	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO2&submit=Quick%0D%9817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO2	rs7507093	0.200879	0.1934	0.2679	1	0	0	intronic	intronic	intronic	PIEZO2	PIEZO2	ENSG00000154864	Na	Na	Na	Na	Na	Na	Het;C>T	211;6|10	Hom;C>T	711;0|28
N	N	-	18	11248262	11248262	G	T	snp	intergenic	 	 	 	 	PIEZO2	Piezo2	ENSG00000154864	piezo type mechanosensitive ion channel component 2	chr18:10666480-11148587	The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Myocardial Infarction; Hip; Urinalysis; Alzheimer Disease; Heart Rate; Carcinoma, Non-Small-Cell Lung	Mice homozygous for a null allele exhibit impaired injury-induced tactile pain detection.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0009612;response to mechanical stimulus;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050896;response to stimulus;IEA|GO:0050974;detection of mechanical stimulus involved in sensory perception;ISS|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO2	https://www.uniprot.org/uniprot/Q9H5I5	https://hpo.jax.org/app/browse/search?q=PIEZO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613629	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO2&submit=Quick%0D%9817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO2	rs7230996	0.63738	0	0	1	0	0	intergenic	intergenic	intergenic	PIEZO2(dist=99501),LINC01255(dist=240307)	PIEZO2(dist=99501),DQ594439(dist=405691)	ENSG00000154864(dist=99675),ENSG00000263682(dist=78007)	Na	Na	Na	Na	Na	Na	Het;G>T	690;48|37	Hom;G>T	2289;1|70
N	N	-	18	11308055	11308055	C	T	snp	intergenic	 	 	 	 	PIEZO2	Piezo2	ENSG00000154864	piezo type mechanosensitive ion channel component 2	chr18:10666480-11148587	The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Myocardial Infarction; Hip; Urinalysis; Alzheimer Disease; Heart Rate; Carcinoma, Non-Small-Cell Lung	Mice homozygous for a null allele exhibit impaired injury-induced tactile pain detection.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0009612;response to mechanical stimulus;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050896;response to stimulus;IEA|GO:0050974;detection of mechanical stimulus involved in sensory perception;ISS|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO2	https://www.uniprot.org/uniprot/Q9H5I5	https://hpo.jax.org/app/browse/search?q=PIEZO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613629	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO2&submit=Quick%0D%9817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO2	rs459061	0.588458	0	0	1	0	0	intergenic	intergenic	intergenic	PIEZO2(dist=159294),LINC01255(dist=180514)	PIEZO2(dist=159294),DQ594439(dist=345898)	ENSG00000154864(dist=159468),ENSG00000263682(dist=18214)	Na	Na	Na	Na	Na	Na	Het;C>T	32;2|2	Hom;C>T	113;0|3
N	N	-	18	11533604	11533604	C	T	snp	intergenic	 	 	 	 	LINC01255																		rs484805	0.236621	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01255(dist=26622),SLC35G4(dist=75953)	PIEZO2(dist=384843),DQ594439(dist=120349)	ENSG00000267252(dist=26622),ENSG00000267371(dist=18761)	Na	Na	Na	Na	Na	Na	Het;C>T	129;13|8	Hom;C>T	191;0|8
N	N	-	18	11557161	11557161	T	C	snp	intergenic	 	 	 	 	AP001017.1																		rs524956	0.444089	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01255(dist=50179),SLC35G4(dist=52396)	PIEZO2(dist=408400),DQ594439(dist=96792)	ENSG00000267371(dist=4315),ENSG00000236396(dist=52383)	Na	Na	Na	Na	Na	Na	Het;T>C	95;14|4	Hom;T>C	358;0|8
N	N	-	18	11618273	11618273	T	C	snp	ncRNA_exonic	 	 	 	 	AP001120.4																		rs62099566	0.398163	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLC35G4(dist=7662),MIR7153(dist=36611)	PIEZO2(dist=469512),DQ594439(dist=35680)	ENSG00000267794	Na	Na	Na	Na	Na	Na	Het;T>C	1229;81|36	Hom;T>C	2717;2|63
N	N	-	18	11618274	11618274	G	A	snp	ncRNA_exonic	 	 	 	 	AP001120.4																		rs62099567	0.261981	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLC35G4(dist=7663),MIR7153(dist=36610)	PIEZO2(dist=469513),DQ594439(dist=35679)	ENSG00000267794	Na	Na	Na	Na	Na	Na	Het;G>A	1229;81|36	Hom;G>A	2717;2|63
N	N	-	18	11655063	11655063	T	C	snp	upstream;downstream	 	 	 	 	DQ576414																		rs9947107	0.660343	0	0	1	0	0	upstream	upstream;downstream	intergenic	MIR7153	DQ576414,DQ584035,DQ586209;DQ572814	ENSG00000267773(dist=10240),ENSG00000260759(dist=11392)	Na	Na	Na	Na	Na	Na	Het;T>C	40;2|3	Hom;T>C	112;0|5
N	N	-	18	11824829	11824829	A	G	snp	intronic	 	 	 	 	GNAL	Gnal	ENSG00000141404	G protein subunit alpha L	chr18:11688955-11885684	This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Bipolar Disorder; Leukocyte Count; Amyotrophic Lateral Sclerosis; Cell Adhesion Molecules; bipolar disorder; Tobacco Use Disorder	Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors.	Olfactory Signaling Pathway	GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007191;adenylate cyclase-activating dopamine receptor signaling pathway;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007608;sensory perception of smell;IBA	GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNAL	https://www.uniprot.org/uniprot/P38405	https://hpo.jax.org/app/browse/search?q=GNAL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=139312	http://www.informatics.jax.org/searchtool/Search.do?query=GNAL&submit=Quick%0D%8154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNAL	rs1647555	0.639177	0	0	1	0	0	intronic	intronic	intronic	GNAL	GNAL	ENSG00000141404	Na	Na	Na	Na	Na	Na	Het;A>G	187;6|6	Hom;A>G	789;0|23
N	N	-	18	11824880	11824880	T	A	snp	intronic	 	 	 	 	GNAL	Gnal	ENSG00000141404	G protein subunit alpha L	chr18:11688955-11885684	This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Bipolar Disorder; Leukocyte Count; Amyotrophic Lateral Sclerosis; Cell Adhesion Molecules; bipolar disorder; Tobacco Use Disorder	Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors.	Olfactory Signaling Pathway	GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007191;adenylate cyclase-activating dopamine receptor signaling pathway;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007608;sensory perception of smell;IBA	GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNAL	https://www.uniprot.org/uniprot/P38405	https://hpo.jax.org/app/browse/search?q=GNAL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=139312	http://www.informatics.jax.org/searchtool/Search.do?query=GNAL&submit=Quick%0D%8154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNAL	rs1647556	0.639377	0.7117	0.8066	1	0	0	intronic	intronic	intronic	GNAL	GNAL	ENSG00000141404	Na	Na	Na	Na	Na	Na	Het;T>A	1003;34|27	Hom;T>A	3115;2|71
N	N	-	18	11824886	11824886	T	G	snp	intronic	 	 	 	 	GNAL	Gnal	ENSG00000141404	G protein subunit alpha L	chr18:11688955-11885684	This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Bipolar Disorder; Leukocyte Count; Amyotrophic Lateral Sclerosis; Cell Adhesion Molecules; bipolar disorder; Tobacco Use Disorder	Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors.	Olfactory Signaling Pathway	GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007191;adenylate cyclase-activating dopamine receptor signaling pathway;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007608;sensory perception of smell;IBA	GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNAL	https://www.uniprot.org/uniprot/P38405	https://hpo.jax.org/app/browse/search?q=GNAL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=139312	http://www.informatics.jax.org/searchtool/Search.do?query=GNAL&submit=Quick%0D%8154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNAL	rs1647557	0.639577	0.6763	0.7431	1	0	0	intronic	intronic	intronic	GNAL	GNAL	ENSG00000141404	Na	Na	Na	Na	Na	Na	Het;T>G	1070;37|30	Hom;T>G	3185;2|76
N	N	-	18	11884670	11884670	C	G	snp	UTR3	*3536C>G	 	 	 	GNAL	Gnal	ENSG00000141404	G protein subunit alpha L	chr18:11688955-11885684	This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Bipolar Disorder; Leukocyte Count; Amyotrophic Lateral Sclerosis; Cell Adhesion Molecules; bipolar disorder; Tobacco Use Disorder	Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors.	Olfactory Signaling Pathway	GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007191;adenylate cyclase-activating dopamine receptor signaling pathway;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007608;sensory perception of smell;IBA	GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNAL	https://www.uniprot.org/uniprot/P38405	https://hpo.jax.org/app/browse/search?q=GNAL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=139312	http://www.informatics.jax.org/searchtool/Search.do?query=GNAL&submit=Quick%0D%8154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNAL	rs643652	0.68111	0.6076	0.5922	1	0	0	UTR3	UTR3	UTR3	GNAL(NM_182978:c.*3536C>G,NM_001142339:c.*3536C>G,NM_001261443:c.*3536C>G,NM_001261444:c.*3536C>G)	GNAL(uc002kqc.3:c.*3536C>G,uc010dkz.3:c.*3536C>G,uc031rhj.1:c.*3536C>G,uc002kqd.3:c.*3536C>G,uc010wzt.2:c.*3536C>G)	ENSG00000141404(ENST00000334049:c.*3536C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	240;4|11	Hom;C>G	463;0|14
N	N	-	18	12056612	12056612	T	C	snp	downstream	 	 	 	 	AP002414.1																		rs7231981	0.582867	0	0	1	0	0	intergenic	intergenic	downstream	IMPA2(dist=25727),ANKRD62(dist=37236)	IMPA2(dist=25727),ANKRD62(dist=37236)	ENSG00000212712	Na	Na	Na	Na	Na	Na	Het;T>C	104;3|4	Hom;T>C	375;0|13
N	N	-	18	12056850	12056850	C	T	snp	ncRNA_exonic	 	 	 	 	AP002414.1																		rs4643402	0.566494	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=25965),ANKRD62(dist=36998)	IMPA2(dist=25965),ANKRD62(dist=36998)	ENSG00000212712	Na	Na	Na	Na	Na	Na	Het;C>T	246;30|15	Hom;C>T	1735;0|61
N	N	-	18	12057117	12057117	C	T	snp	ncRNA_exonic	 	 	 	 	AP002414.1																		rs9959561	0.574081	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=26232),ANKRD62(dist=36731)	IMPA2(dist=26232),ANKRD62(dist=36731)	ENSG00000212712	Na	Na	Na	Na	Na	Na	Het;C>T	506;36|25	Hom;C>T	1114;0|42
N	N	-	18	12057195	12057195	A	G	snp	ncRNA_exonic	 	 	 	 	AP002414.1																		rs9959517	0.575479	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=26310),ANKRD62(dist=36653)	IMPA2(dist=26310),ANKRD62(dist=36653)	ENSG00000212712	Na	Na	Na	Na	Na	Na	Het;A>G	929;36|46	Hom;A>G	1551;0|56
N	N	-	18	12057389	12057389	C	G	snp	ncRNA_exonic	 	 	 	 	AP002414.1																		rs9959781	0.57528	0	0.7652	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=26504),ANKRD62(dist=36459)	IMPA2(dist=26504),ANKRD62(dist=36459)	ENSG00000212712	Na	Na	Na	Na	Na	Na	Het;C>G	1014;24|26	Hom;C>G	2296;0|53
N	N	-	18	12057403	12057403	A	G	snp	ncRNA_exonic	 	 	 	 	AP002414.1																		rs9959774	0.570887	0	0.7676	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=26518),ANKRD62(dist=36445)	IMPA2(dist=26518),ANKRD62(dist=36445)	ENSG00000212712	Na	Na	Na	Na	Na	Na	Het;A>G	1018;23|28	Hom;A>G	2370;0|56
N	N	-	18	12057809	12057809	G	C	snp	ncRNA_exonic	 	 	 	 	AP002414.1																		rs9960429	0.628594	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=26924),ANKRD62(dist=36039)	IMPA2(dist=26924),ANKRD62(dist=36039)	ENSG00000212712	Na	Na	Na	Na	Na	Na	Het;G>C	331;6|16	Hom;G>C	470;0|17
N	N	-	18	12061722	12061722	G	A	snp	intergenic	 	 	 	 	AP002414.1																		rs12953431	0.548522	0	0	1	0	0	intergenic	intergenic	intergenic	IMPA2(dist=30837),ANKRD62(dist=32126)	IMPA2(dist=30837),ANKRD62(dist=32126)	ENSG00000212712(dist=3901),ENSG00000267533(dist=5450)	Na	Na	Na	Na	Na	Na	Het;G>A	34;5|3	Hom;G>A	454;0|19
N	N	-	18	12061765	12061765	T	C	snp	intergenic	 	 	 	 	AP002414.1																		rs12954230	0.57528	0	0	1	0	0	intergenic	intergenic	intergenic	IMPA2(dist=30880),ANKRD62(dist=32083)	IMPA2(dist=30880),ANKRD62(dist=32083)	ENSG00000212712(dist=3944),ENSG00000267533(dist=5407)	Na	Na	Na	Na	Na	Na	Het;T>C	40;4|3	Hom;T>C	351;0|14
N	N	-	18	12061812	12061812	T	C	snp	intergenic	 	 	 	 	AP002414.1																		rs11872277	0.574481	0	0	1	0	0	intergenic	intergenic	intergenic	IMPA2(dist=30927),ANKRD62(dist=32036)	IMPA2(dist=30927),ANKRD62(dist=32036)	ENSG00000212712(dist=3991),ENSG00000267533(dist=5360)	Na	Na	Na	Na	Na	Na	Het;T>C	36;2|2	Hom;T>C	109;0|5
N	N	-	18	12062117	12062117	T	TGCTGTACCATGG	indel	intergenic	 	 	 	 	AP002414.1																		rs112710442	0	0	0	1	0	0	intergenic	intergenic	intergenic	IMPA2(dist=31232),ANKRD62(dist=31731)	IMPA2(dist=31232),ANKRD62(dist=31731)	ENSG00000212712(dist=4296),ENSG00000267533(dist=5055)	Na	Na	Na	Na	Na	Na	Het;+GCTGTACCATGG	1753;40|47	Hom;+GCTGTACCATGG	3461;0|80
N	N	-	18	12067919	12067919	G	A	snp	ncRNA_exonic	 	 	 	 	AP002414.4																		rs12966234	0.550719	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=37034),ANKRD62(dist=25929)	IMPA2(dist=37034),ANKRD62(dist=25929)	ENSG00000267533	Na	Na	Na	Na	Na	Na	Het;G>A	67;14|7	Hom;G>A	570;0|22
N	N	-	18	12076440	12076440	G	A	snp	ncRNA_exonic	 	 	 	 	AP002414.2																		rs35530473	0.244609	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=45555),ANKRD62(dist=17408)	IMPA2(dist=45555),ANKRD62(dist=17408)	ENSG00000256616	Na	Na	Na	Na	Na	Na	Het;G>A	636;34|33	Hom;G>A	1321;0|50
N	N	-	18	12092364	12092364	C	A	snp	ncRNA_exonic	 	 	 	 	AP002414.3																		rs13381564	0.505591	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IMPA2(dist=61479),ANKRD62(dist=1484)	IMPA2(dist=61479),ANKRD62(dist=1484)	ENSG00000267478	Na	Na	Na	Na	Na	Na	Het;C>A	137;11|7	Hom;C>A	587;0|18
N	N	-	18	12094006	12094006	C	T	snp	UTR5	-11C>T	 	 	 	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs9964971	0.525958	0	0.6046	1	0	0	UTR5	UTR5	UTR5	ANKRD62(NM_001277333:c.-11C>T)	ANKRD62(uc031rhk.1:c.-11C>T)	ENSG00000181626(ENST00000587848:c.-11C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1174;27|52	Hom;C>T	1495;2|55
N	N	-	18	12096249	12096249	G	T	snp	nonsynonymous SNV	G562T	A188S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs1986751	0.524561	0	0.6040	0.14	1	7	exonic	exonic	exonic	ANKRD62	ANKRD62	ENSG00000181626	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD62:NM_001277333:exon4:c.G562T:p.A188S,	ANKRD62:uc031rhk.1:exon4:c.G562T:p.A188S,	UNKNOWN	Het;G>T	1408;42|67	Hom;G>T	1654;2|66
N	N	-	18	12097547	12097547	A	G	snp	intronic	 	 	 	 	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs4796945	0.524361	0	0	1	0	0	intronic	intronic	intronic	ANKRD62	ANKRD62	ENSG00000181626	Na	Na	Na	Na	Na	Na	Het;A>G	392;17|15	Hom;A>G	718;0|21
N	N	-	18	12099654	12099654	T	C	snp	nonsynonymous SNV	T793C	C265R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs6505715	0.524361	0	0.6014	0.17	1	6	exonic	exonic	exonic	ANKRD62	ANKRD62	ENSG00000181626	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD62:NM_001277333:exon6:c.T793C:p.C265R,	ANKRD62:uc031rhk.1:exon6:c.T793C:p.C265R,	UNKNOWN	Het;T>C	764;38|39	Hom;T>C	2558;0|96
N	N	-	18	12115002	12115002	A	G	snp	intronic	 	 	 	 	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs9959641	0.547125	0	0	1	0	0	intronic	intronic	intronic	ANKRD62	ANKRD62	ENSG00000181626	Na	Na	Na	Na	Na	Na	Het;A>G	128;10|6	Hom;A>G	556;0|16
N	N	-	18	12115310	12115310	C	T	snp	intronic	 	 	 	 	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs8091585	0.547524	0	0	1	0	0	intronic	intronic	intronic	ANKRD62	ANKRD62	ENSG00000181626	Na	Na	Na	Na	Na	Na	Het;C>T	147;11|7	Hom;C>T	587;0|18
N	N	-	18	12115339	12115339	A	G	snp	intronic	 	 	 	 	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs8091463	0.547324	0	0	1	0	0	intronic	intronic	intronic	ANKRD62	ANKRD62	ENSG00000181626	Na	Na	Na	Na	Na	Na	Het;A>G	269;18|12	Hom;A>G	924;1|30
N	N	-	18	12115509	12115509	G	A	snp	nonsynonymous SNV	G1216A	E406K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs4519391	0.527356	0	0.6094	0.44	4	9	exonic	exonic	exonic	ANKRD62	ANKRD62	ENSG00000181626	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD62:NM_001277333:exon10:c.G1216A:p.E406K,	ANKRD62:uc031rhk.1:exon10:c.G1216A:p.E406K,	UNKNOWN	Het;G>A	539;56|31	Hom;G>A	2105;1|81
N	N	-	18	12125657	12125657	G	A	snp	nonsynonymous SNV	G1837A	A613T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs7243248	0.546526	0	0.6118	0.11	1	9	exonic	exonic	exonic	ANKRD62	ANKRD62	ENSG00000181626	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD62:NM_001277333:exon13:c.G1837A:p.A613T,	ANKRD62:uc031rhk.1:exon13:c.G1837A:p.A613T,	UNKNOWN	Het;G>A	962;45|46	Hom;G>A	2269;0|83
N	N	-	18	12126407	12126407	T	A	snp	intronic	 	 	 	 	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs9303759	0.546725	0	0.6032	1	0	0	intronic	intronic	intronic	ANKRD62	ANKRD62	ENSG00000181626	Na	Na	Na	Na	Na	Na	Het;T>A	345;9|15	Hom;T>A	820;0|30
N	N	-	18	12131165	12131165	A	G	snp	intergenic	 	 	 	 	ANKRD62	 	ENSG00000181626	ankyrin repeat domain 62	chr18:12093852-12129748			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62	rs9954323	0.547125	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD62(dist=1417),C18orf61(dist=69613)	ANKRD62(dist=1417),C18orf61(dist=69613)	ENSG00000181626(dist=1419),ENSG00000267116(dist=61037)	Na	Na	Na	Na	Na	Na	Het;A>G	220;9|9	Hom;A>G	350;0|10
N	N	-	18	12208501	12208501	C	A	snp	ncRNA_intronic	 	 	 	 	C18orf61																		rs72880946	0.239417	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	C18orf61	C18orf61	ENSG00000267733	Na	Na	Na	Na	Na	Na	Het;C>A	90;4|6	Hom;C>A	71;0|4
N	N	-	18	12218722	12218722	G	A	snp	ncRNA_exonic	 	 	 	 	C18orf61																		rs58779678	0.242812	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	C18orf61	C18orf61	ENSG00000267733	Na	Na	Na	Na	Na	Na	Het;G>A	943;22|43	Hom;G>A	2363;10|102
N	N	-	18	12223639	12223639	A	C	snp	ncRNA_exonic	 	 	 	 	C18orf61																		rs61640934	0.240016	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	C18orf61	C18orf61	ENSG00000267733	Na	Na	Na	Na	Na	Na	Het;A>C	2510;104|115	Hom;A>C	5089;2|187
N	N	-	18	12254562	12254562	C	CCCGCGCACACACCCAT	indel	unknown	 	 	 	 	CIDEA	Cidea	ENSG00000176194	cell death-inducing DFFA-like effector a	chr18:12254318-12277594	This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]	obesity; Metabolic Syndrome X	Nullizygous mice show higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment. They are lean and resistant to diet-induced obesity. Aging homozygotes exhibit dry eyes and hair, reduced sebaceous lipid secretion, hair loss, and poor water repulsion.	Lipid particle organization	GO:0001659;temperature homeostasis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0008219;cell death;ISS|GO:0010890;positive regulation of sequestering of triglyceride;ISS|GO:0019915;lipid storage;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0034389;lipid particle organization;TAS|GO:0035634;response to stilbenoid;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0050710;negative regulation of cytokine secretion;IMP|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:1900118;negative regulation of execution phase of apoptosis;ISS|GO:1902510;regulation of apoptotic DNA fragmentation;ISS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;ISS|GO:0005739;mitochondrion;IEA|GO:0005740;mitochondrial envelope;IEA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS	GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CIDEA			https://www.ncbi.nlm.nih.gov/omim/?term=604440	http://www.informatics.jax.org/searchtool/Search.do?query=CIDEA&submit=Quick%0D%13816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CIDEA	rs71172063	0.384585	0	0.3808	1	0	0	intronic	UTR5	exonic	CIDEA	CIDEA(uc002kqu.4:c.-254C>CCCGCGCACACACCCAT)	ENSG00000176194	Na	Na	unknown	Na	Na	UNKNOWN	Het;+CCGCGCACACACCCAT	1359;62|55	Hom;+CCGCGCACACACCCAT	3681;1|89
N	N	-	18	12264549	12264550	CT	C	indel	intronic	 	 	 	 	CIDEA	Cidea	ENSG00000176194	cell death-inducing DFFA-like effector a	chr18:12254318-12277594	This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]	obesity; Metabolic Syndrome X	Nullizygous mice show higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment. They are lean and resistant to diet-induced obesity. Aging homozygotes exhibit dry eyes and hair, reduced sebaceous lipid secretion, hair loss, and poor water repulsion.	Lipid particle organization	GO:0001659;temperature homeostasis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0008219;cell death;ISS|GO:0010890;positive regulation of sequestering of triglyceride;ISS|GO:0019915;lipid storage;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0034389;lipid particle organization;TAS|GO:0035634;response to stilbenoid;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0050710;negative regulation of cytokine secretion;IMP|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:1900118;negative regulation of execution phase of apoptosis;ISS|GO:1902510;regulation of apoptotic DNA fragmentation;ISS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;ISS|GO:0005739;mitochondrion;IEA|GO:0005740;mitochondrial envelope;IEA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS	GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CIDEA			https://www.ncbi.nlm.nih.gov/omim/?term=604440	http://www.informatics.jax.org/searchtool/Search.do?query=CIDEA&submit=Quick%0D%13816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CIDEA	rs11330077	0.785343	0	0	1	0	0	intronic	intronic	intronic	CIDEA	CIDEA	ENSG00000176194	Na	Na	Na	Na	Na	Na	Het;-T	551;6|32	Hom;-T	492;2|26
N	N	-	18	12277613	12277613	T	C	snp	downstream	 	 	 	 	CIDEA	Cidea	ENSG00000176194	cell death-inducing DFFA-like effector a	chr18:12254318-12277594	This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]	obesity; Metabolic Syndrome X	Nullizygous mice show higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment. They are lean and resistant to diet-induced obesity. Aging homozygotes exhibit dry eyes and hair, reduced sebaceous lipid secretion, hair loss, and poor water repulsion.	Lipid particle organization	GO:0001659;temperature homeostasis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0008219;cell death;ISS|GO:0010890;positive regulation of sequestering of triglyceride;ISS|GO:0019915;lipid storage;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0034389;lipid particle organization;TAS|GO:0035634;response to stilbenoid;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0050710;negative regulation of cytokine secretion;IMP|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:1900118;negative regulation of execution phase of apoptosis;ISS|GO:1902510;regulation of apoptotic DNA fragmentation;ISS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;ISS|GO:0005739;mitochondrion;IEA|GO:0005740;mitochondrial envelope;IEA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS	GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CIDEA			https://www.ncbi.nlm.nih.gov/omim/?term=604440	http://www.informatics.jax.org/searchtool/Search.do?query=CIDEA&submit=Quick%0D%13816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CIDEA	rs6416992	0.765176	0	0	1	0	0	downstream	downstream	downstream	CIDEA	CIDEA	ENSG00000176194	Na	Na	Na	Na	Na	Na	Het;T>C	537;34|25	Hom;T>C	1894;0|66
N	N	-	18	12421442	12421442	T	A	snp	UTR5	-166T>A	 	 	 	PRELID3A	Slmo1																	rs3906620	0.751398	0	0	1	0	0	intronic	intronic	UTR5	SLMO1	SLMO1	ENSG00000141391(ENST00000587735:c.-166T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	121;14|6	Hom;T>A	494;0|16
N	N	-	18	12429313	12429313	C	T	snp	intronic	 	 	 	 	SLMO1	 																	rs3760550	0.400958	0.4211	0.4748	1	0	0	intronic	intronic	intronic	SLMO1	SLMO1	ENSG00000141391	Na	Na	Na	Na	Na	Na	Het;C>T	470;31|25	Hom;C>T	1152;0|44
N	N	-	18	12438889	12438889	C	T	snp	ncRNA_exonic	 	 	 	 	AP001029.2																		rs12964631	0.408347	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLMO1(dist=6653),SPIRE1(dist=7622)	SLMO1(dist=6653),SPIRE1(dist=7622)	ENSG00000267199	Na	Na	Na	Na	Na	Na	Het;C>T	258;4|10	Hom;C>T	410;1|15
N	N	-	18	12443308	12443308	A	G	snp	ncRNA_exonic	 	 	 	 	AP001029.2																		rs496491	0.792532	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLMO1(dist=11072),SPIRE1(dist=3203)	SLMO1(dist=11072),SPIRE1(dist=3203)	ENSG00000267199	Na	Na	Na	Na	Na	Na	Het;A>G	181;14|10	Hom;A>G	519;0|19
N	N	-	18	12453005	12453005	A	G	snp	intronic	 	 	 	 	SPIRE1	Spire1	ENSG00000134278	spire type actin nucleation factor 1	chr18:12446511-12658133	Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory.		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003779;actin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPIRE1	https://www.uniprot.org/uniprot/Q08AE8		https://www.ncbi.nlm.nih.gov/omim/?term=609216	http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE1&submit=Quick%0D%6948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE1	rs499013	0.792732	0.7441	0	1	0	0	intronic	intronic	intronic	SPIRE1	SPIRE1	ENSG00000134278	Na	Na	Na	Na	Na	Na	Het;A>G	533;18|24	Hom;A>G	1232;0|42
N	N	-	18	12512559	12512559	C	A	snp	intronic	 	 	 	 	SPIRE1	Spire1	ENSG00000134278	spire type actin nucleation factor 1	chr18:12446511-12658133	Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory.		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003779;actin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPIRE1	https://www.uniprot.org/uniprot/Q08AE8		https://www.ncbi.nlm.nih.gov/omim/?term=609216	http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE1&submit=Quick%0D%6948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE1	rs550613	0.824281	0.8379	0.7991	1	0	0	intronic	intronic	intronic	SPIRE1	SPIRE1	ENSG00000134278	Na	Na	Na	Na	Na	Na	Het;C>A	291;5|15	Hom;C>A	255;0|11
N	N	-	18	12662148	12662148	G	A	snp	UTR3	*1748C>T	 	 	 	CEP76	Cep76	ENSG00000101624	centrosomal protein 76	chr18:12661832-12702776	This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP76	https://www.uniprot.org/uniprot/Q8TAP6			http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76	rs1129214	0.297524	0	0.2980	1	0	0	intronic	UTR3	UTR3	PSMG2	CEP76(uc002krh.4:c.*4C>T)	ENSG00000101624(ENST00000590143:c.*1748C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	391;28|19	Hom;G>A	1418;0|53
N	N	-	18	12678486	12678486	A	G	snp	intronic	 	 	 	 	CEP76	Cep76	ENSG00000101624	centrosomal protein 76	chr18:12661832-12702776	This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP76	https://www.uniprot.org/uniprot/Q8TAP6			http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76	rs12966424	0.30631	0.3977	0.4005	1	0	0	intronic	intronic	intronic	CEP76,PSMG2	CEP76,PSMG2	ENSG00000101624,ENSG00000128789	Na	Na	Na	Na	Na	Na	Het;A>G	209;18|11	Hom;A>G	1180;0|38
N	N	-	18	12691610	12691610	A	G	snp	intronic	 	 	 	 	CEP76	Cep76	ENSG00000101624	centrosomal protein 76	chr18:12661832-12702776	This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP76	https://www.uniprot.org/uniprot/Q8TAP6			http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76	rs12960997	0.305911	0	0	1	0	0	intronic	intronic	intronic	CEP76,PSMG2	CEP76,PSMG2	ENSG00000101624,ENSG00000128789	Na	Na	Na	Na	Na	Na	Het;A>G	105;5|4	Hom;A>G	124;0|4
N	N	-	18	12700849	12700849	G	A	snp	intronic	 	 	 	 	CEP76	Cep76	ENSG00000101624	centrosomal protein 76	chr18:12661832-12702776	This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP76	https://www.uniprot.org/uniprot/Q8TAP6			http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76	rs9962006	0.30631	0	0	1	0	0	intronic	intronic	intronic	CEP76,PSMG2	CEP76,PSMG2	ENSG00000101624,ENSG00000128789	Na	Na	Na	Na	Na	Na	Het;G>A	160;1|6	Hom;G>A	281;0|9
N	N	-	18	12703067	12703067	A	G	snp	UTR5	-40A>G	 	 	 	PSMG2	Psmg2	ENSG00000128789	proteasome assembly chaperone 2	chr18:12658737-12725739		Crohn Disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes Mellitus, Type 1	 		GO:0007094;mitotic spindle assembly checkpoint;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043248;proteasome assembly;IDA|GO:0051726;regulation of cell cycle;IEA	GO:0000502;proteasome complex;IBA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PSMG2	https://www.uniprot.org/uniprot/Q969U7		https://www.ncbi.nlm.nih.gov/omim/?term=609702	http://www.informatics.jax.org/searchtool/Search.do?query=PSMG2&submit=Quick%0D%6182ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG2	rs3809916	0.305112	0.4086	0.4038	1	0	0	UTR5	UTR5	UTR5	PSMG2(NM_020232:c.-40A>G)	PSMG2(uc002krj.2:c.-40A>G,uc002krk.3:c.-40A>G)	ENSG00000128789(ENST00000317615:c.-40A>G,ENST00000590217:c.-40A>G,ENST00000586587:c.-40A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	910;47|44	Hom;A>G	2447;1|92
N	N	-	18	12703192	12703192	C	T	snp	intronic	 	 	 	 	PSMG2	Psmg2	ENSG00000128789	proteasome assembly chaperone 2	chr18:12658737-12725739		Crohn Disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes Mellitus, Type 1	 		GO:0007094;mitotic spindle assembly checkpoint;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043248;proteasome assembly;IDA|GO:0051726;regulation of cell cycle;IEA	GO:0000502;proteasome complex;IBA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PSMG2	https://www.uniprot.org/uniprot/Q969U7		https://www.ncbi.nlm.nih.gov/omim/?term=609702	http://www.informatics.jax.org/searchtool/Search.do?query=PSMG2&submit=Quick%0D%6182ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG2	rs3809919	0.305112	0.4156	0.4651	1	0	0	intronic	intronic	intronic	PSMG2	PSMG2	ENSG00000128789	Na	Na	Na	Na	Na	Na	Het;C>T	590;16|28	Hom;C>T	2095;2|79
N	N	-	18	12718593	12718593	A	G	snp	synonymous SNV	A273G	S91S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PSMG2	Psmg2	ENSG00000128789	proteasome assembly chaperone 2	chr18:12658737-12725739		Crohn Disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes Mellitus, Type 1	 		GO:0007094;mitotic spindle assembly checkpoint;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043248;proteasome assembly;IDA|GO:0051726;regulation of cell cycle;IEA	GO:0000502;proteasome complex;IBA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PSMG2	https://www.uniprot.org/uniprot/Q969U7		https://www.ncbi.nlm.nih.gov/omim/?term=609702	http://www.informatics.jax.org/searchtool/Search.do?query=PSMG2&submit=Quick%0D%6182ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG2	rs2302768	0.293331	0.3990	0.3810	1	0	0	exonic	exonic	exonic	PSMG2	PSMG2	ENSG00000128789	synonymous SNV	synonymous SNV	unknown	PSMG2:NM_020232:exon4:c.A366G:p.S122S,PSMG2:NM_147163:exon4:c.A273G:p.S91S,	PSMG2:uc002krg.3:exon4:c.A273G:p.S91S,PSMG2:uc002krj.2:exon4:c.A366G:p.S122S,PSMG2:uc002krk.3:exon4:c.A366G:p.S122S,	UNKNOWN	Het;A>G	975;58|50	Hom;A>G	2646;0|101
N	N	-	18	12951738	12951738	G	A	snp	intronic	 	 	 	 	SEH1L	Seh1l	ENSG00000085415	SEH1 like nucleoporin	chr18:12947132-12987535	The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Mitotic Prometaphase	GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEH1L	https://www.uniprot.org/uniprot/Q96EE3		https://www.ncbi.nlm.nih.gov/omim/?term=609263	http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L	rs1474043	0.769968	0	0	1	0	0	intronic	intronic	intronic	SEH1L	SEH1L	ENSG00000085415	Na	Na	Na	Na	Na	Na	Het;G>A	105;11|6	Hom;G>A	889;0|28
N	N	-	18	12979028	12979028	T	C	snp	intronic	 	 	 	 	SEH1L	Seh1l	ENSG00000085415	SEH1 like nucleoporin	chr18:12947132-12987535	The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Mitotic Prometaphase	GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEH1L	https://www.uniprot.org/uniprot/Q96EE3		https://www.ncbi.nlm.nih.gov/omim/?term=609263	http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L	rs56263236	0.317891	0	0	1	0	0	intronic	intronic	intronic	SEH1L	SEH1L	ENSG00000085415	Na	Na	Na	Na	Na	Na	Het;T>C	139;14|8	Hom;T>C	431;0|17
N	N	-	18	12982760	12982760	G	A	snp	intronic	 	 	 	 	SEH1L	Seh1l	ENSG00000085415	SEH1 like nucleoporin	chr18:12947132-12987535	The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Mitotic Prometaphase	GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEH1L	https://www.uniprot.org/uniprot/Q96EE3		https://www.ncbi.nlm.nih.gov/omim/?term=609263	http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L	rs12955780	0.78155	0	0	1	0	0	intronic	intronic	intronic	SEH1L	SEH1L	ENSG00000085415	Na	Na	Na	Na	Na	Na	Het;G>A	405;20|16	Hom;G>A	991;0|32
N	N	-	18	12984144	12984144	C	A	snp	nonsynonymous SNV	C1025A	T342N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SEH1L	Seh1l	ENSG00000085415	SEH1 like nucleoporin	chr18:12947132-12987535	The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Mitotic Prometaphase	GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEH1L	https://www.uniprot.org/uniprot/Q96EE3		https://www.ncbi.nlm.nih.gov/omim/?term=609263	http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L	rs6505776	0.782149	0.7225	0.6769	0.15	2	13	exonic	exonic	exonic	SEH1L	SEH1L	ENSG00000085415	nonsynonymous SNV	nonsynonymous SNV	unknown	SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N,	SEH1L:uc002krq.3:exon8:c.C1025A:p.T342N,SEH1L:uc002krr.3:exon8:c.C1025A:p.T342N,	UNKNOWN	Het;C>A	1129;63|58	Hom;C>A	4913;0|184
N	N	-	18	12984340	12984340	A	C	snp	intronic	 	 	 	 	SEH1L	Seh1l	ENSG00000085415	SEH1 like nucleoporin	chr18:12947132-12987535	The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Mitotic Prometaphase	GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEH1L	https://www.uniprot.org/uniprot/Q96EE3		https://www.ncbi.nlm.nih.gov/omim/?term=609263	http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L	rs2902856	0.77476	0	0	1	0	0	intronic	intronic	intronic	SEH1L	SEH1L	ENSG00000085415	Na	Na	Na	Na	Na	Na	Het;A>C	160;5|6	Hom;A>C	608;0|15
N	N	-	18	12986802	12986802	G	GT	indel	UTR3	*1551G>GT	 	 	 	SEH1L	Seh1l	ENSG00000085415	SEH1 like nucleoporin	chr18:12947132-12987535	The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Mitotic Prometaphase	GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEH1L	https://www.uniprot.org/uniprot/Q96EE3		https://www.ncbi.nlm.nih.gov/omim/?term=609263	http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L	rs113784266	0.541134	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	SEH1L(NM_031216:c.*1551G>GT)	SEH1L(uc002krr.3:c.*1551G>GT)	ENSG00000266969	Na	Na	Na	Na	Na	Na	Het;+T	151;3|10	Hom;+T	239;0|10
N	N	-	18	13644992	13644993	CT	C	indel	ncRNA_exonic	 	 	 	 	AP001010.1																		rs11357998	0.836262	0	0	1	0	0	intronic	intronic	ncRNA_exonic	LDLRAD4	LDLRAD4	ENSG00000266954	Na	Na	Na	Na	Na	Na	Het;-T	61;4|5	Hom;-T	189;0|9
N	N	-	18	14105853	14105853	C	A	snp	nonsynonymous SNV	G686T	R229I	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	ZNF519	Zfp386	ENSG00000175322	zinc finger protein 519	chr18:14057456-14132489		Amyotrophic Lateral Sclerosis|	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0051038;negative regulation of transcription involved in meiotic cell cycle;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF519				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF519&submit=Quick%0D%13680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF519	rs8094412	0.165136	0.1117	0.1596	0.20	2	10	exonic	exonic	exonic	ZNF519	ZNF519	ENSG00000175322	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF519:NM_145287:exon3:c.G686T:p.R229I,	ZNF519:uc002kst.2:exon3:c.G686T:p.R229I,	UNKNOWN	Het;C>A	1795;61|83	Hom;C>A	4083;0|153
N	N	-	18	14132593	14132593	G	A	snp	upstream	 	 	 	 	ZNF519	Zfp386	ENSG00000175322	zinc finger protein 519	chr18:14057456-14132489		Amyotrophic Lateral Sclerosis|	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0051038;negative regulation of transcription involved in meiotic cell cycle;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF519				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF519&submit=Quick%0D%13680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF519	rs76107211	0.165335	0	0	1	0	0	upstream	upstream	upstream	ZNF519	ZNF519	ENSG00000175322	Na	Na	Na	Na	Na	Na	Het;G>A	58;5|3	Hom;G>A	226;0|7
N	N	-	18	14336335	14336335	C	T	snp	intergenic	 	 	 	 	ENSG00000264222																		rs61173354	0.267772	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD20A5P(dist=109286),CYP4F35P(dist=1087)	DQ596206(dist=1187),CYP4F35P(dist=1087)	ENSG00000264222(dist=84196),ENSG00000265787(dist=1087)	Na	Na	Na	Na	Na	Na	Het;C>T	302;17|13	Hom;C>T	666;0|24
N	N	-	18	14339562	14339562	C	A	snp	ncRNA_exonic	 	 	 	 	CYP4F35P																		rs113274851	0.133187	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CYP4F35P	CYP4F35P	ENSG00000265787	Na	Na	Na	Na	Na	Na	Het;C>A	1900;61|91	Hom;C>A	3613;4|143
N	N	-	18	14341562	14341562	C	T	snp	ncRNA_exonic	 	 	 	 	CYP4F35P																		rs143625895	0.0866613	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CYP4F35P	CYP4F35P	ENSG00000265787	Na	Na	Na	Na	Na	Na	Het;C>T	1372;76|66	Hom;C>T	6126;0|135
N	N	-	18	14341763	14341763	T	C	snp	ncRNA_exonic	 	 	 	 	CYP4F35P																		rs117273556	0.0876597	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CYP4F35P	CYP4F35P	ENSG00000265787	Na	Na	Na	Na	Na	Na	Het;T>C	2525;154|119	Hom;T>C	6334;2|215
N	N	-	18	14772383	14772385	GTT	G	indel	intronic	 	 	 	 	ANKRD30B	 	ENSG00000180777	ankyrin repeat domain 30B	chr18:14728271-14852737			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD30B			https://www.ncbi.nlm.nih.gov/omim/?term=616565	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD30B&submit=Quick%0D%14524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD30B	rs61387617	0.553315	0	0	1	0	0	intronic	intronic	intronic	ANKRD30B	ANKRD30B	ENSG00000180777	Na	Na	Na	Na	Na	Na	Het;-TT	50;2|3	Hom;-TT	159;1|6
N	N	-	18	15179595	15179595	A	G	snp	intergenic	 	 	 	 	AP005901.2																		rs12953564	0.396565	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=205840),LOC644669(dist=133960)	ANKRD30B(dist=326858),LOC644669(dist=133960)	ENSG00000264880(dist=15129),ENSG00000265015(dist=17403)	Na	Na	Na	Na	Na	Na	Het;A>G	180;4|7	Hom;A>G	775;0|26
N	N	-	18	15179884	15179884	T	G	snp	intergenic	 	 	 	 	AP005901.2																		rs4096979	0.361022	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=206129),LOC644669(dist=133671)	ANKRD30B(dist=327147),LOC644669(dist=133671)	ENSG00000264880(dist=15418),ENSG00000265015(dist=17114)	Na	Na	Na	Na	Na	Na	Het;T>G	1345;13|36	Hom;T>G	1185;0|35
N	N	-	18	15180686	15180686	C	T	snp	intergenic	 	 	 	 	AP005901.2																		rs9948545	0.314097	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=206931),LOC644669(dist=132869)	ANKRD30B(dist=327949),LOC644669(dist=132869)	ENSG00000264880(dist=16220),ENSG00000265015(dist=16312)	Na	Na	Na	Na	Na	Na	Het;C>T	78;14|7	Hom;C>T	289;0|12
N	N	-	18	15180857	15180857	T	C	snp	intergenic	 	 	 	 	AP005901.2																		rs12958750	0.408546	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=207102),LOC644669(dist=132698)	ANKRD30B(dist=328120),LOC644669(dist=132698)	ENSG00000264880(dist=16391),ENSG00000265015(dist=16141)	Na	Na	Na	Na	Na	Na	Het;T>C	215;17|12	Hom;T>C	667;0|24
N	N	-	18	15182454	15182454	G	T	snp	intergenic	 	 	 	 	AP005901.2																		rs4096978	0.310104	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=208699),LOC644669(dist=131101)	ANKRD30B(dist=329717),LOC644669(dist=131101)	ENSG00000264880(dist=17988),ENSG00000265015(dist=14544)	Na	Na	Na	Na	Na	Na	Het;G>T	315;23|17	Hom;G>T	596;0|22
N	N	-	18	15182483	15182483	G	T	snp	intergenic	 	 	 	 	AP005901.2																		rs35510416	0.188898	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=208728),LOC644669(dist=131072)	ANKRD30B(dist=329746),LOC644669(dist=131072)	ENSG00000264880(dist=18017),ENSG00000265015(dist=14515)	Na	Na	Na	Na	Na	Na	Het;G>T	233;15|12	Hom;G>T	385;0|14
N	N	-	18	15183601	15183601	A	G	snp	intergenic	 	 	 	 	AP005901.2																		rs28683012	0.41234	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=209846),LOC644669(dist=129954)	ANKRD30B(dist=330864),LOC644669(dist=129954)	ENSG00000264880(dist=19135),ENSG00000265015(dist=13397)	Na	Na	Na	Na	Na	Na	Het;A>G	370;8|17	Hom;A>G	1237;0|45
N	N	-	18	15183705	15183705	C	T	snp	intergenic	 	 	 	 	AP005901.2																		rs28587024	0.376597	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01443(dist=209950),LOC644669(dist=129850)	ANKRD30B(dist=330968),LOC644669(dist=129850)	ENSG00000264880(dist=19239),ENSG00000265015(dist=13293)	Na	Na	Na	Na	Na	Na	Het;C>T	308;8|13	Hom;C>T	1003;0|37
N	N	-	18	15197488	15197488	T	C	snp	ncRNA_intronic	 	 	 	 	AP005901.3																		rs6565754	0.404353	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01443(dist=223733),LOC644669(dist=116067)	ANKRD30B(dist=344751),LOC644669(dist=116067)	ENSG00000265015	Na	Na	Na	Na	Na	Na	Het;T>C	211;5|11	Hom;T>C	212;0|8
N	N	-	18	15197704	15197704	C	G	snp	ncRNA_exonic	 	 	 	 	AP005901.3																		rs7244650	0.377196	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01443(dist=223949),LOC644669(dist=115851)	ANKRD30B(dist=344967),LOC644669(dist=115851)	ENSG00000265015	Na	Na	Na	Na	Na	Na	Het;C>G	172;19|11	Hom;C>G	660;0|23
N	N	-	18	18515879	18515879	G	C	snp	intergenic	 	 	 	 	NONE																		rs371687756	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),ROCK1(dist=13824)	NONE(dist=NONE),ROCK1(dist=13824)	NONE(dist=NONE),ENSG00000067900(dist=10988)	Na	Na	Na	Na	Na	Na	Het;G>C	95;1|3	Hom;G>C	214;0|6
N	N	-	18	18515887	18515887	T	C	snp	intergenic	 	 	 	 	NONE																		rs369616205	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),ROCK1(dist=13816)	NONE(dist=NONE),ROCK1(dist=13816)	NONE(dist=NONE),ENSG00000067900(dist=10980)	Na	Na	Na	Na	Na	Na	Het;T>C	53;1|2	Hom;T>C	242;0|6
N	N	-	18	18515895	18515895	C	T	snp	intergenic	 	 	 	 	NONE																		rs796586472	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),ROCK1(dist=13808)	NONE(dist=NONE),ROCK1(dist=13808)	NONE(dist=NONE),ENSG00000067900(dist=10972)	Na	Na	Na	Na	Na	Na	Het;C>T	53;1|2	Hom;C>T	332;0|8
N	N	-	18	19780858	19780858	G	A	snp	ncRNA_exonic	 	 	 	 	AC091588.3																		rs1941084	0.51857	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	GATA6(NM_005257:c.*72G>A)	GATA6(uc002ktt.2:c.*72G>A,uc002ktu.2:c.*72G>A)	ENSG00000266283	Na	Na	Na	Na	Na	Na	Het;G>A	210;12|7	Hom;G>A	586;0|16
N	N	-	18	19880761	19880761	A	G	snp	intergenic	 	 	 	 	ENSG00000238907																		rs4800390	0.572085	0	0	1	0	0	intergenic	intergenic	intergenic	GATA6(dist=98270),CTAGE1(dist=112803)	GATA6(dist=98270),CTAGE1(dist=112803)	ENSG00000238907(dist=40121),ENSG00000273348(dist=47048)	Na	Na	Na	Na	Na	Na	Het;A>G	103;10|6	Hom;A>G	771;0|25
N	N	-	18	19998810	19998810	G	C	snp	ncRNA_exonic	 	 	 	 	AC099849.1																		rs948386	0.561701	0	0	1	0	0	upstream	upstream	ncRNA_exonic	CTAGE1	CTAGE1	ENSG00000270855	Na	Na	Na	Na	Na	Na	Het;G>C	160;5|7	Hom;G>C	307;0|13
N	N	-	18	20416736	20416737	GA	G	indel	ncRNA_intronic	 	 	 	 	AC090912.1																		rs35572862	0.42472	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101927571(dist=49936),RBBP8(dist=96558)	CTAGE1(dist=418858),RBBP8(dist=96558)	ENSG00000265943,ENSG00000266850	Na	Na	Na	Na	Na	Na	Het;-A	54;1|4	Hom;-A	148;0|7
N	N	-	18	20564800	20564803	TTCA	T	indel	intronic	 	 	 	 	RBBP8	Rbbp8	ENSG00000101773	RB binding protein 8, endonuclease	chr18:20378224-20606451	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Pancreatic Neoplasms; ovarian cancer ; breast cancer ; height; Height	Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomasof both B and T cells.	Meiotic recombination	GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001835;blastocyst hatching;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IMP|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IEA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032355;response to estradiol;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IMP|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0001106;RNA polymerase II transcription corepressor activity;IDA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBBP8	https://www.uniprot.org/uniprot/Q99708	https://hpo.jax.org/app/browse/search?q=RBBP8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604124	http://www.informatics.jax.org/searchtool/Search.do?query=RBBP8&submit=Quick%0D%2779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBBP8	rs3052770	0.451677	0.4899	0.5698	1	0	0	intronic	intronic	intronic	RBBP8	RBBP8	ENSG00000101773	Na	Na	Na	Na	Na	Na	Het;-TCA	706;14|20	Hom;-TCA	1837;0|42
N	N	-	18	20577456	20577456	T	A	snp	intronic	 	 	 	 	RBBP8	Rbbp8	ENSG00000101773	RB binding protein 8, endonuclease	chr18:20378224-20606451	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Pancreatic Neoplasms; ovarian cancer ; breast cancer ; height; Height	Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomasof both B and T cells.	Meiotic recombination	GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001835;blastocyst hatching;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IMP|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IEA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032355;response to estradiol;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IMP|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0001106;RNA polymerase II transcription corepressor activity;IDA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBBP8	https://www.uniprot.org/uniprot/Q99708	https://hpo.jax.org/app/browse/search?q=RBBP8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604124	http://www.informatics.jax.org/searchtool/Search.do?query=RBBP8&submit=Quick%0D%2779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBBP8	rs2305886	0.429912	0	0	1	0	0	intronic	intronic	intronic	RBBP8	RBBP8	ENSG00000101773	Na	Na	Na	Na	Na	Na	Het;T>A	38;1|2	Hom;T>A	239;0|7
N	N	-	18	20953720	20953720	G	A	snp	nonsynonymous SNV	C391T	L131F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	TMEM241	Tmem241	ENSG00000134490	transmembrane protein 241	chr18:20777108-21017925		Neutrophils; Stroke; height; Height	 		GO:0008643;carbohydrate transport;IEA|GO:0036085;GDP-fucose import into Golgi lumen;IEA	GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005457;GDP-fucose transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM241	https://www.uniprot.org/uniprot/Q24JQ0		https://www.ncbi.nlm.nih.gov/omim/?term=615430	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM241&submit=Quick%0D%6988ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM241	rs8099409	0.410543	0.4889	0.4377	0.15	2	13	exonic	exonic	exonic	TMEM241	TMEM241	ENSG00000134490	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM241:NM_032933:exon7:c.C391T:p.L131F,	TMEM241:uc002kuf.3:exon7:c.C391T:p.L131F,TMEM241:uc031rhs.1:exon8:c.C28T:p.L10F,	UNKNOWN	Het;G>A	763;24|34	Hom;G>A	1935;0|74
N	N	-	18	21044607	21044607	G	A	snp	intronic	 	 	 	 	RIOK3	Riok3	ENSG00000101782	RIO kinase 3	chr18:21032787-21066567	This gene was identified by the similarity of its product to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0002376;immune system process;IEA|GO:0006364;rRNA processing;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007059;chromosome segregation;TAS|GO:0016310;phosphorylation;IEA|GO:0030490;maturation of SSU-rRNA;IMP|GO:0032463;negative regulation of protein homooligomerization;IDA|GO:0032728;positive regulation of interferon-beta production;IMP|GO:0039534;negative regulation of MDA-5 signaling pathway;IMP|GO:0042254;ribosome biogenesis;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045087;innate immune response;IEA|GO:0045089;positive regulation of innate immune response;IMP|GO:0051607;defense response to virus;IEA|GO:0071359;cellular response to dsRNA;IMP|GO:0098586;cellular response to virus;IMP|GO:1990786;cellular response to dsDNA;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030688;preribosome, small subunit precursor;IDA	GO:0000166;nucleotide binding;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0089720;caspase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIOK3	https://www.uniprot.org/uniprot/O14730		https://www.ncbi.nlm.nih.gov/omim/?term=603579	http://www.informatics.jax.org/searchtool/Search.do?query=RIOK3&submit=Quick%0D%2780ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIOK3	rs2291993	0.285343	0.3026	0.3125	1	0	0	intronic	intronic	intronic	RIOK3	RIOK3	ENSG00000101782	Na	Na	Na	Na	Na	Na	Het;G>A	932;48|44	Hom;G>A	2316;0|88
N	N	-	18	21100240	21100240	C	T	snp	synonymous SNV	C453T	P151P	hydrophobic,neutral	hydrophobic,neutral	C18orf8	3110002H16Rik	ENSG00000141452	chromosome 18 open reading frame 8	chr18:21083473-21111746	This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]	prostate cancer; Chronic renal failure|Kidney Failure, Chronic; pancreatitis	 			GO:0005765;lysosomal membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C18orf8	https://www.uniprot.org/uniprot/Q96DM3			http://www.informatics.jax.org/searchtool/Search.do?query=C18orf8&submit=Quick%0D%8168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf8	rs1367083	0.619409	0.4978	0.5444	1	0	0	exonic	exonic	exonic	C18orf8	C18orf8	ENSG00000141452	synonymous SNV	synonymous SNV	unknown	C18orf8:NM_001276342:exon8:c.C780T:p.P260P,C18orf8:NM_013326:exon10:c.C924T:p.P308P,	C18orf8:uc010xau.2:exon9:c.C453T:p.P151P,C18orf8:uc021uie.2:exon10:c.C924T:p.P308P,C18orf8:uc010xav.2:exon8:c.C780T:p.P260P,C18orf8:uc010xaw.2:exon7:c.C453T:p.P151P,	UNKNOWN	Het;C>T	1569;68|74	Hom;C>T	2775;0|103
N	N	-	18	21107628	21107628	G	GTATTGTATTTCT	indel	intronic	 	 	 	 	C18orf8	3110002H16Rik	ENSG00000141452	chromosome 18 open reading frame 8	chr18:21083473-21111746	This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]	prostate cancer; Chronic renal failure|Kidney Failure, Chronic; pancreatitis	 			GO:0005765;lysosomal membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C18orf8	https://www.uniprot.org/uniprot/Q96DM3			http://www.informatics.jax.org/searchtool/Search.do?query=C18orf8&submit=Quick%0D%8168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf8	rs111369676	0.797724	0	0	1	0	0	intronic	intronic	intronic	C18orf8	C18orf8	ENSG00000141452,ENSG00000141458	Na	Na	Na	Na	Na	Na	Het;+TATTGTATTTCT	164;3|2	Hom;+TATTGTATTTCT	242;0|6
N	N	-	18	21109250	21109250	T	C	snp	synonymous SNV	T933C	F311F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	C18orf8	3110002H16Rik	ENSG00000141452	chromosome 18 open reading frame 8	chr18:21083473-21111746	This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]	prostate cancer; Chronic renal failure|Kidney Failure, Chronic; pancreatitis	 			GO:0005765;lysosomal membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C18orf8	https://www.uniprot.org/uniprot/Q96DM3			http://www.informatics.jax.org/searchtool/Search.do?query=C18orf8&submit=Quick%0D%8168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf8	rs1788825	0.830471	0.7363	0.7199	1	0	0	exonic	exonic	exonic	C18orf8	C18orf8	ENSG00000141452	synonymous SNV	synonymous SNV	unknown	C18orf8:NM_001276342:exon13:c.T1260C:p.F420F,C18orf8:NM_013326:exon15:c.T1404C:p.F468F,	C18orf8:uc010xau.2:exon14:c.T933C:p.F311F,C18orf8:uc021uie.2:exon15:c.T1404C:p.F468F,C18orf8:uc010xav.2:exon13:c.T1260C:p.F420F,C18orf8:uc010xaw.2:exon12:c.T933C:p.F311F,	UNKNOWN	Het;T>C	1451;44|70	Hom;T>C	2431;2|88
N	N	-	18	21109269	21109269	T	C	snp	UTR3	*382A>G	 	 	 	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs1652375	0.83107	0.7362	0.7214	1	0	0	intronic	intronic	UTR3	C18orf8	C18orf8	ENSG00000141458(ENST00000593280:c.*382A>G,ENST00000586150:c.*33A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1433;38|67	Hom;T>C	2198;2|79
N	N	-	18	21109466	21109466	G	T	snp	UTR3	*185C>A	 	 	 	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs1652376	0.610224	0	0	1	0	0	intronic	intronic	UTR3	C18orf8	C18orf8	ENSG00000141458(ENST00000593280:c.*185C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	88;3|4	Hom;G>T	233;0|7
N	N	-	18	21113285	21113285	T	C	snp	intronic	 	 	 	 	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs2510344	0.522165	0.4745	0.5011	1	0	0	intronic	intronic	intronic	NPC1	NPC1	ENSG00000141458	Na	Na	Na	Na	Na	Na	Het;T>C	534;13|21	Hom;T>C	1149;0|41
N	N	-	18	21119291	21119291	A	G	snp	intronic	 	 	 	 	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs6507720	0.58766	0.5483	0.5398	1	0	0	intronic	intronic	intronic	NPC1	NPC1	ENSG00000141458	Na	Na	Na	Na	Na	Na	Het;A>G	1301;36|55	Hom;A>G	1996;1|73
N	N	-	18	21119777	21119777	G	A	snp	synonymous SNV	C2328T	N776N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs1140458	0.484026	0.4420	0.4902	1	0	0	exonic	exonic	exonic	NPC1	NPC1	ENSG00000141458	synonymous SNV	synonymous SNV	unknown	NPC1:NM_000271:exon18:c.C2793T:p.N931N,	NPC1:uc010xba.1:exon16:c.C2328T:p.N776N,NPC1:uc010xaz.2:exon11:c.C1992T:p.N664N,NPC1:uc002kum.4:exon18:c.C2793T:p.N931N,	UNKNOWN	Het;G>A	1004;34|51	Hom;G>A	2376;0|91
N	N	-	18	21120444	21120444	T	C	snp	nonsynonymous SNV	A2572G	I858V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs1805082	0.485823	0.4427	0.4947	0.46	6	13	exonic	exonic	exonic	NPC1	NPC1	ENSG00000141458	nonsynonymous SNV	nonsynonymous SNV	unknown	NPC1:NM_000271:exon17:c.A2572G:p.I858V,	NPC1:uc010xba.1:exon15:c.A2107G:p.I703V,NPC1:uc010xaz.2:exon10:c.A1771G:p.I591V,NPC1:uc002kum.4:exon17:c.A2572G:p.I858V,	UNKNOWN	Het;T>C	632;34|32	Hom;T>C	1517;0|57
N	N	-	18	21124945	21124945	C	G	snp	nonsynonymous SNV	G1926C	M642I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs1788799	0.831669	0.7347	0.7177	0.23	3	13	exonic	exonic	exonic	NPC1	NPC1	ENSG00000141458	nonsynonymous SNV	nonsynonymous SNV	unknown	NPC1:NM_000271:exon12:c.G1926C:p.M642I,	NPC1:uc010xba.1:exon10:c.G1461C:p.M487I,NPC1:uc010xaz.2:exon5:c.G1125C:p.M375I,NPC1:uc002kum.4:exon12:c.G1926C:p.M642I,	UNKNOWN	Het;C>G	451;86|25	Hom;C>G	964;0|31
N	N	-	18	21127910	21127910	C	T	snp	intronic	 	 	 	 	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs2435307	0.491014	0	0	1	0	0	intronic	intronic	intronic	NPC1	NPC1	ENSG00000141458	Na	Na	Na	Na	Na	Na	Het;C>T	403;12|17	Hom;C>T	703;0|24
N	N	-	18	21140432	21140432	T	C	snp	nonsynonymous SNV	A644G	H215R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	NPC1	Npc1	ENSG00000141458	NPC intracellular cholesterol transporter 1	chr18:21086148-21166862	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]	Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.	LDL clearance	GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NPC1	https://www.uniprot.org/uniprot/O15118	https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607623	http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1	rs1805081	0.21865	0.2959	0.3287	0.15	2	13	exonic	exonic	exonic	NPC1	NPC1	ENSG00000141458	nonsynonymous SNV	nonsynonymous SNV	unknown	NPC1:NM_000271:exon6:c.A644G:p.H215R,	NPC1:uc010xba.1:exon4:c.A179G:p.H60R,NPC1:uc002kum.4:exon6:c.A644G:p.H215R,	UNKNOWN	Het;T>C	479;21|20	Hom;T>C	1385;0|51
N	N	-	18	21192261	21192261	G	T	snp	intronic	 	 	 	 	ANKRD29	Ankrd29	ENSG00000154065	ankyrin repeat domain 29	chr18:21178890-21242849		Chronic renal failure|Kidney Failure, Chronic	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ANKRD29	https://www.uniprot.org/uniprot/Q8N6D5			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD29&submit=Quick%0D%9720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD29	rs1652366	0.729433	0	0	1	0	0	intronic	intronic	intronic	ANKRD29	ANKRD29	ENSG00000154065	Na	Na	Na	Na	Na	Na	Het;G>T	73;1|3	Hom;G>T	165;0|5
N	N	-	18	21474827	21474827	G	A	snp	intronic	 	 	 	 	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs1268716	0.16853	0.1987	0.2355	1	0	0	intronic	intronic	intronic	LAMA3	LAMA3	ENSG00000053747	Na	Na	Na	Na	Na	Na	Het;G>A	835;55|39	Hom;G>A	2982;1|107
N	N	-	18	21481233	21481233	C	G	snp	synonymous SNV	C5979G	A1993A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs1154226	0.168331	0.1988	0.2343	1	0	0	exonic	exonic	exonic	LAMA3	LAMA3	ENSG00000053747	synonymous SNV	synonymous SNV	unknown	LAMA3:NM_001127717:exon47:c.C5979G:p.A1993A,LAMA3:NM_001127718:exon10:c.C1152G:p.A384A,LAMA3:NM_000227:exon11:c.C1320G:p.A440A,LAMA3:NM_198129:exon48:c.C6147G:p.A2049A,	LAMA3:uc002kur.3:exon47:c.C5979G:p.A1993A,LAMA3:uc002kuq.3:exon48:c.C6147G:p.A2049A,LAMA3:uc002kus.4:exon11:c.C1320G:p.A440A,LAMA3:uc002kut.4:exon10:c.C1152G:p.A384A,	UNKNOWN	Het;C>G	1259;67|62	Hom;C>G	3202;1|122
N	N	-	18	21481340	21481340	A	G	snp	intronic	 	 	 	 	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs1154227	0.434904	0	0	1	0	0	intronic	intronic	intronic	LAMA3	LAMA3	ENSG00000053747	Na	Na	Na	Na	Na	Na	Het;A>G	310;24|17	Hom;A>G	880;0|30
N	N	-	18	21483206	21483206	G	A	snp	intronic	 	 	 	 	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs729814	0.16873	0	0	1	0	0	intronic	intronic	intronic	LAMA3	LAMA3	ENSG00000053747	Na	Na	Na	Na	Na	Na	Het;G>A	274;10|10	Hom;G>A	294;0|9
N	N	-	18	21495483	21495483	T	C	snp	intronic	 	 	 	 	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs1541836	0.521166	0	0	1	0	0	intronic	intronic	intronic	LAMA3	LAMA3	ENSG00000053747	Na	Na	Na	Na	Na	Na	Het;T>C	202;7|9	Hom;T>C	358;0|13
N	N	-	18	21511034	21511034	C	A	snp	nonsynonymous SNV	C8277A	N2759K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs1154232	0.156749	0.1526	0.1889	0.08	1	12	exonic	exonic	exonic	LAMA3	LAMA3	ENSG00000053747	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMA3:NM_001127717:exon64:c.C8277A:p.N2759K,LAMA3:NM_001127718:exon27:c.C3450A:p.N1150K,LAMA3:NM_000227:exon28:c.C3618A:p.N1206K,LAMA3:NM_198129:exon65:c.C8445A:p.N2815K,	LAMA3:uc002kur.3:exon64:c.C8277A:p.N2759K,LAMA3:uc002kuq.3:exon65:c.C8445A:p.N2815K,LAMA3:uc002kus.4:exon28:c.C3618A:p.N1206K,LAMA3:uc002kut.4:exon27:c.C3450A:p.N1150K,	UNKNOWN	Het;C>A	704;45|32	Hom;C>A	2380;2|90
N	N	-	18	21511172	21511172	G	C	snp	UTR3	*3G>C	 	 	 	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs1258107	0.948882	0.9608	0.9732	1	0	0	intronic	intronic	UTR3	LAMA3	LAMA3	ENSG00000053747(ENST00000588164:c.*3G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	760;32|34	Hom;G>C	1649;0|59
N	N	-	18	21513768	21513768	C	T	snp	synonymous SNV	C8563T	L2855L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMA3	Lama3	ENSG00000053747	laminin subunit alpha 3	chr18:21269407-21535030	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]	Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA3	https://www.uniprot.org/uniprot/Q16787	https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600805	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3	rs1131521	0.148363	0.1459	0.1860	1	0	0	exonic	exonic	exonic	LAMA3	LAMA3	ENSG00000053747	synonymous SNV	synonymous SNV	unknown	LAMA3:NM_001127717:exon66:c.C8563T:p.L2855L,LAMA3:NM_001127718:exon29:c.C3736T:p.L1246L,LAMA3:NM_000227:exon30:c.C3904T:p.L1302L,LAMA3:NM_198129:exon67:c.C8731T:p.L2911L,	LAMA3:uc002kur.3:exon66:c.C8563T:p.L2855L,LAMA3:uc002kuq.3:exon67:c.C8731T:p.L2911L,LAMA3:uc002kus.4:exon30:c.C3904T:p.L1302L,LAMA3:uc002kut.4:exon29:c.C3736T:p.L1246L,	UNKNOWN	Het;C>T	467;35|24	Hom;C>T	1337;0|51
N	N	-	18	21705616	21705616	C	T	snp	intronic	 	 	 	 	TTC39C	Ttc39c	ENSG00000168234	tetratricopeptide repeat domain 39C	chr18:21572737-21715574			 					http://www.genecards.org/index.php?path=/Search/keyword/TTC39C				http://www.informatics.jax.org/searchtool/Search.do?query=TTC39C&submit=Quick%0D%12217ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC39C	rs4392147	0.111222	0	0	1	0	0	intronic	intronic	intronic	TTC39C	TTC39C	ENSG00000168234	Na	Na	Na	Na	Na	Na	Het;C>T	100;12|5	Hom;C>T	384;0|13
N	N	-	18	21723003	21723003	A	C	snp	intronic	 	 	 	 	CABYR	Cabyr	ENSG00000154040	calcium binding tyrosine phosphorylation regulated	chr18:21718942-21741567	To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	Tobacco Use Disorder	Homozygous knockout affects sperm flagellum morphology, resulting in reduced sperm motility. These mutant males are subfertile.		GO:0003351;epithelial cilium movement;NAS|GO:0048240;sperm capacitation;NAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0031514;motile cilium;IDA|GO:0035686;sperm fibrous sheath;IDA|GO:0042995;cell projection;IEA|GO:0097228;sperm principal piece;IEA|GO:0097229;sperm end piece;IEA	GO:0005509;calcium ion binding;IDA|GO:0017124;SH3 domain binding;NAS|GO:0019904;protein domain specific binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CABYR	https://www.uniprot.org/uniprot/O75952		https://www.ncbi.nlm.nih.gov/omim/?term=612135	http://www.informatics.jax.org/searchtool/Search.do?query=CABYR&submit=Quick%0D%9718ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CABYR	rs182985592	0.0820687	0	0	1	0	0	intronic	intronic	intronic	CABYR	CABYR	ENSG00000154040	Na	Na	Na	Na	Na	Na	Het;A>C	129;1|7	Hom;A>C	351;0|11
N	N	-	18	22008913	22008913	C	T	snp	intronic	 	 	 	 	IMPACT	Impact	ENSG00000154059	impact RWD domain protein	chr18:22006580-22033499			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0007399;nervous system development;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA|GO:0031333;negative regulation of protein complex assembly;IEA|GO:0031953;negative regulation of protein autophosphorylation;IEA|GO:0034198;cellular response to amino acid starvation;IEA|GO:0042149;cellular response to glucose starvation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071264;positive regulation of translational initiation in response to starvation;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071494;cellular response to UV-C;IEA|GO:0072755;cellular response to benomyl;IEA|GO:0097201;negative regulation of transcription from RNA polymerase II promoter in response to stress;IEA|GO:1990138;neuron projection extension;IEA|GO:1990253;cellular response to leucine starvation;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005844;polysome;IEA	GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0043022;ribosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IMPACT	https://www.uniprot.org/uniprot/Q9P2X3		https://www.ncbi.nlm.nih.gov/omim/?term=615319	http://www.informatics.jax.org/searchtool/Search.do?query=IMPACT&submit=Quick%0D%9719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPACT	rs582358	0.86901	0.9244	0.9030	1	0	0	intronic	intronic	intronic	IMPACT	IMPACT	ENSG00000154059	Na	Na	Na	Na	Na	Na	Het;C>T	397;31|21	Hom;C>T	1483;0|56
N	N	-	18	22010421	22010421	C	T	snp	intronic	 	 	 	 	IMPACT	Impact	ENSG00000154059	impact RWD domain protein	chr18:22006580-22033499			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0007399;nervous system development;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA|GO:0031333;negative regulation of protein complex assembly;IEA|GO:0031953;negative regulation of protein autophosphorylation;IEA|GO:0034198;cellular response to amino acid starvation;IEA|GO:0042149;cellular response to glucose starvation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071264;positive regulation of translational initiation in response to starvation;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071494;cellular response to UV-C;IEA|GO:0072755;cellular response to benomyl;IEA|GO:0097201;negative regulation of transcription from RNA polymerase II promoter in response to stress;IEA|GO:1990138;neuron projection extension;IEA|GO:1990253;cellular response to leucine starvation;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005844;polysome;IEA	GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0043022;ribosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IMPACT	https://www.uniprot.org/uniprot/Q9P2X3		https://www.ncbi.nlm.nih.gov/omim/?term=615319	http://www.informatics.jax.org/searchtool/Search.do?query=IMPACT&submit=Quick%0D%9719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPACT	rs9783924	0.639177	0	0	1	0	0	intronic	intronic	intronic	IMPACT	IMPACT	ENSG00000154059	Na	Na	Na	Na	Na	Na	Het;C>T	434;22|20	Hom;C>T	1535;0|52
N	N	-	18	22020543	22020543	C	G	snp	nonsynonymous SNV	C451G	L151V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IMPACT	Impact	ENSG00000154059	impact RWD domain protein	chr18:22006580-22033499			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0007399;nervous system development;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA|GO:0031333;negative regulation of protein complex assembly;IEA|GO:0031953;negative regulation of protein autophosphorylation;IEA|GO:0034198;cellular response to amino acid starvation;IEA|GO:0042149;cellular response to glucose starvation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071264;positive regulation of translational initiation in response to starvation;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071494;cellular response to UV-C;IEA|GO:0072755;cellular response to benomyl;IEA|GO:0097201;negative regulation of transcription from RNA polymerase II promoter in response to stress;IEA|GO:1990138;neuron projection extension;IEA|GO:1990253;cellular response to leucine starvation;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005844;polysome;IEA	GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0043022;ribosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IMPACT	https://www.uniprot.org/uniprot/Q9P2X3		https://www.ncbi.nlm.nih.gov/omim/?term=615319	http://www.informatics.jax.org/searchtool/Search.do?query=IMPACT&submit=Quick%0D%9719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPACT	rs677688	0.871206	0.9264	0.9035	0.08	1	13	exonic	exonic	exonic	IMPACT	IMPACT	ENSG00000154059	nonsynonymous SNV	nonsynonymous SNV	unknown	IMPACT:NM_018439:exon6:c.C451G:p.L151V,	IMPACT:uc002kvg.4:exon5:c.C397G:p.L133V,IMPACT:uc002kvh.4:exon6:c.C451G:p.L151V,	UNKNOWN	Het;C>G	1696;70|82	Hom;C>G	3839;1|140
N	N	-	18	22496593	22496595	AAT	A	indel	ncRNA_intronic	 	 	 	 	AC018697.1																		rs34698450	0.407548	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC729950(dist=254431),ZNF521(dist=145293)	LOC729950(dist=254431),ZNF521(dist=145293)	ENSG00000266573	Na	Na	Na	Na	Na	Na	Het;-AT	615;21|18	Hom;-AT	1935;0|44
N	N	-	18	22497620	22497620	C	CA	indel	ncRNA_intronic	 	 	 	 	AC018697.1																		rs71167832	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC729950(dist=255458),ZNF521(dist=144268)	LOC729950(dist=255458),ZNF521(dist=144268)	ENSG00000266573	Na	Na	Na	Na	Na	Na	Het;+A	69;1|3	Hom;+A	670;0|18
N	N	-	18	22722077	22722077	A	C	snp	intronic	 	 	 	 	ZNF521	Zfp521	ENSG00000198795	zinc finger protein 521	chr18:22641890-22932154		Waist-Hip Ratio; Body Weight; Hip; Anticonvulsants	Mice homozygous for a null allele exhibit postnatal growth retardation, behavioral anomalies including hyperlocomotion, lower anxiety, higher impulsivity and impaired learning, abnormal formation of the neuronal cell layers of the dentate gyrus in the hippocampus, and premature death.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0048663;neuron fate commitment;IEA	GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0019904;protein domain specific binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF521			https://www.ncbi.nlm.nih.gov/omim/?term=610974	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF521&submit=Quick%0D%17009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF521	rs4519409	0.648762	0	0	1	0	0	intronic	intronic	intronic	ZNF521	ZNF521	ENSG00000198795	Na	Na	Na	Na	Na	Na	Het;A>C	378;28|21	Hom;A>C	687;2|29
N	N	-	18	24017796	24017799	TAAA	T	indel	ncRNA_intronic	 	 	 	 	LINC01543																		Na	0	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LINC01543	TAF4B(dist=46146),KCTD1(dist=17075)	ENSG00000263862(dist=11731),ENSG00000134504(dist=17075)	Na	Na	Na	Na	Na	Na	Het;-AAA	226;9|11	Hom;-AAA	178;0|5
N	N	-	18	24017800	24017801	TA	T	indel	ncRNA_intronic	 	 	 	 	LINC01543																		rs764839651	0	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LINC01543	TAF4B(dist=46150),KCTD1(dist=17073)	ENSG00000263862(dist=11735),ENSG00000134504(dist=17073)	Na	Na	Na	Na	Na	Na	Het;-A	226;9|11	Hom;-A	178;0|5
N	N	-	18	24436519	24436519	A	G	snp	ncRNA_intronic	 	 	 	 	AQP4-AS1																		rs68006382	0.23722	0	0	1	0	0	intronic	intronic	ncRNA_intronic	AQP4	AQP4	ENSG00000260372	Na	Na	Na	Na	Na	Na	Het;A>G	431;11|18	Hom;A>G	674;0|22
N	N	-	18	28586964	28586964	A	G	snp	synonymous SNV	T1797C	P599P	hydrophobic,neutral	hydrophobic,neutral	DSC3	Dsc3	ENSG00000134762	desmocollin 3	chr18:28569974-28622781	The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]	protein quantitative trait loci; ovarian neoplasm|Ovarian Neoplasms; Tobacco Use Disorder	Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation.	Formation of the cornified envelope	GO:0001701;in utero embryonic development;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSC3	https://www.uniprot.org/uniprot/Q14574	https://hpo.jax.org/app/browse/search?q=DSC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600271	http://www.informatics.jax.org/searchtool/Search.do?query=DSC3&submit=Quick%0D%7028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSC3	rs1313586	0.594249	0.4695	0.4109	1	0	0	exonic	exonic	exonic	DSC3	DSC3	ENSG00000134762	synonymous SNV	synonymous SNV	unknown	DSC3:NM_024423:exon12:c.T1797C:p.P599P,DSC3:NM_001941:exon12:c.T1797C:p.P599P,	DSC3:uc002kwi.4:exon12:c.T1797C:p.P599P,DSC3:uc002kwj.4:exon12:c.T1797C:p.P599P,	UNKNOWN	Het;A>G	1342;92|66	Hom;A>G	4839;1|180
N	N	-	18	28588537	28588537	C	T	snp	intronic	 	 	 	 	DSC3	Dsc3	ENSG00000134762	desmocollin 3	chr18:28569974-28622781	The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]	protein quantitative trait loci; ovarian neoplasm|Ovarian Neoplasms; Tobacco Use Disorder	Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation.	Formation of the cornified envelope	GO:0001701;in utero embryonic development;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSC3	https://www.uniprot.org/uniprot/Q14574	https://hpo.jax.org/app/browse/search?q=DSC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600271	http://www.informatics.jax.org/searchtool/Search.do?query=DSC3&submit=Quick%0D%7028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSC3	rs1313587	0.342252	0.2578	0.2748	1	0	0	intronic	intronic	intronic	DSC3	DSC3	ENSG00000134762	Na	Na	Na	Na	Na	Na	Het;C>T	156;8|6	Hom;C>T	405;0|13
N	N	-	18	28993183	28993183	A	G	snp	synonymous SNV	A2805G	P935P	hydrophobic,neutral	hydrophobic,neutral	DSG4	Dsg4	ENSG00000175065	desmoglein 4	chr18:28956740-28994875	This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]	HYPOTRICHOSIS 6	Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis.	Formation of the cornified envelope	GO:0001942;hair follicle development;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSG4		https://hpo.jax.org/app/browse/search?q=DSG4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607892	http://www.informatics.jax.org/searchtool/Search.do?query=DSG4&submit=Quick%0D%13627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG4	rs12960081	0.393371	0.3917	0.4430	1	0	0	exonic	exonic	exonic	DSG4	DSG4	ENSG00000175065	synonymous SNV	synonymous SNV	unknown	DSG4:NM_001134453:exon15:c.A2805G:p.P935P,DSG4:NM_177986:exon16:c.A2748G:p.P916P,	DSG4:uc002kwr.2:exon15:c.A2805G:p.P935P,DSG4:uc002kwq.2:exon16:c.A2748G:p.P916P,	UNKNOWN	Het;A>G	1655;68|75	Hom;A>G	4200;0|150
N	N	-	18	2917357	2917357	G	A	snp	UTR3	*2934C>T	 	 	 	LPIN2	Lpin2	ENSG00000101577	lipin 2	chr18:2916992-3013313	Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]	SAPHO Syndrome; Lipoproteins, VLDL; Type 2 diabetes; Cholesterol, LDL; Tobacco Use Disorder; Pancreatic Neoplasms; Diabetes Mellitus, Type 2; Cholesterol, HDL; Triglycerides	Homozygous null mice develop ataxia, impaired blance, and tremors with age and show altered cerebellar phospholipid composition and anemia. Mice show diet-induced hepatic triglyceride accumulation.	Triglyceride biosynthesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0009062;fatty acid catabolic process;IBA|GO:0016311;dephosphorylation;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0003713;transcription coactivator activity;IBA|GO:0008195;phosphatidate phosphatase activity;EXP|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LPIN2	https://www.uniprot.org/uniprot/Q92539	https://hpo.jax.org/app/browse/search?q=LPIN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605519	http://www.informatics.jax.org/searchtool/Search.do?query=LPIN2&submit=Quick%0D%2763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPIN2	rs7980	0.545527	0	0	1	0	0	UTR3	UTR3	UTR3	LPIN2(NM_014646:c.*2934C>T)	LPIN2(uc002klo.3:c.*2934C>T)	ENSG00000101577(ENST00000261596:c.*2934C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	693;20|28	Hom;G>A	1622;0|55
N	N	-	18	29426669	29426669	A	G	snp	intronic	 	 	 	 	TRAPPC8	Trappc8	ENSG00000153339	trafficking protein particle complex 8	chr18:29409136-29533099		HIV Infections|[X]Human immunodeficiency virus disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0030242;pexophagy;IBA|GO:0034497;protein localization to pre-autophagosomal structure;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044804;nucleophagy;IBA|GO:0061024;membrane organization;TAS	GO:0000407;pre-autophagosomal structure;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IBA|GO:1990072;TRAPPIII protein complex;IBA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC8	https://www.uniprot.org/uniprot/Q9Y2L5		https://www.ncbi.nlm.nih.gov/omim/?term=614136	http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC8&submit=Quick%0D%9658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC8	rs11660777	0.157748	0.1342	0.1863	1	0	0	intronic	intronic	intronic	TRAPPC8	TRAPPC8	ENSG00000153339	Na	Na	Na	Na	Na	Na	Het;A>G	507;65|28	Hom;A>G	2117;0|77
N	N	-	18	29454644	29454644	A	G	snp	synonymous SNV	T1752C	Y584Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	TRAPPC8	Trappc8	ENSG00000153339	trafficking protein particle complex 8	chr18:29409136-29533099		HIV Infections|[X]Human immunodeficiency virus disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0030242;pexophagy;IBA|GO:0034497;protein localization to pre-autophagosomal structure;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044804;nucleophagy;IBA|GO:0061024;membrane organization;TAS	GO:0000407;pre-autophagosomal structure;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IBA|GO:1990072;TRAPPIII protein complex;IBA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC8	https://www.uniprot.org/uniprot/Q9Y2L5		https://www.ncbi.nlm.nih.gov/omim/?term=614136	http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC8&submit=Quick%0D%9658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC8	rs2276145	0.144569	0.1281	0.1796	1	0	0	exonic	exonic	exonic	TRAPPC8	TRAPPC8	ENSG00000153339	synonymous SNV	synonymous SNV	unknown	TRAPPC8:NM_014939:exon13:c.T1752C:p.Y584Y,	TRAPPC8:uc002kxc.4:exon13:c.T1752C:p.Y584Y,TRAPPC8:uc002kxb.4:exon13:c.T1590C:p.Y530Y,TRAPPC8:uc002kxe.2:exon13:c.T1752C:p.Y584Y,TRAPPC8:uc021uio.1:exon13:c.T1752C:p.Y584Y,	UNKNOWN	Het;A>G	497;21|20	Hom;A>G	1433;0|48
N	N	-	18	29488804	29488804	A	G	snp	synonymous SNV	T1035C	H345H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	TRAPPC8	Trappc8	ENSG00000153339	trafficking protein particle complex 8	chr18:29409136-29533099		HIV Infections|[X]Human immunodeficiency virus disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0030242;pexophagy;IBA|GO:0034497;protein localization to pre-autophagosomal structure;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044804;nucleophagy;IBA|GO:0061024;membrane organization;TAS	GO:0000407;pre-autophagosomal structure;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IBA|GO:1990072;TRAPPIII protein complex;IBA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC8	https://www.uniprot.org/uniprot/Q9Y2L5		https://www.ncbi.nlm.nih.gov/omim/?term=614136	http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC8&submit=Quick%0D%9658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC8	rs12326860	0.157748	0.1342	0.1862	1	0	0	exonic	exonic	exonic	TRAPPC8	TRAPPC8	ENSG00000153339	synonymous SNV	synonymous SNV	unknown	TRAPPC8:NM_014939:exon7:c.T1035C:p.H345H,	TRAPPC8:uc002kxc.4:exon7:c.T1035C:p.H345H,TRAPPC8:uc002kxb.4:exon7:c.T873C:p.H291H,TRAPPC8:uc002kxe.2:exon7:c.T1035C:p.H345H,TRAPPC8:uc021uio.1:exon7:c.T1035C:p.H345H,	UNKNOWN	Het;A>G	1829;67|84	Hom;A>G	3822;0|140
N	N	-	18	29497721	29497722	TA	T	indel	intronic	 	 	 	 	TRAPPC8	Trappc8	ENSG00000153339	trafficking protein particle complex 8	chr18:29409136-29533099		HIV Infections|[X]Human immunodeficiency virus disease	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0030242;pexophagy;IBA|GO:0034497;protein localization to pre-autophagosomal structure;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044804;nucleophagy;IBA|GO:0061024;membrane organization;TAS	GO:0000407;pre-autophagosomal structure;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IBA|GO:1990072;TRAPPIII protein complex;IBA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC8	https://www.uniprot.org/uniprot/Q9Y2L5		https://www.ncbi.nlm.nih.gov/omim/?term=614136	http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC8&submit=Quick%0D%9658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC8	rs142490752	0	0	0	1	0	0	intronic	intronic	intronic	TRAPPC8	TRAPPC8	ENSG00000153339	Na	Na	Na	Na	Na	Na	Het;-A	154;4|9	Hom;-A	96;0|6
N	N	-	18	29543204	29543204	T	C	snp	ncRNA_exonic	 	 	 	 	AC009831.2																		rs6506951	0.839657	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TRAPPC8(dist=20113),RNF125(dist=55241)	TRAPPC8(dist=20113),RNF125(dist=55241)	ENSG00000265273	Na	Na	Na	Na	Na	Na	Het;T>C	168;17|10	Hom;T>C	971;0|33
N	N	-	18	3134555	3134555	T	A	snp	intronic	 	 	 	 	MYOM1	Myom1	ENSG00000101605	myomesin 1	chr18:3066805-3220106	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Body Height; Cholesterol; Breath Tests; Tobacco Use Disorder	 		GO:0002074;extraocular skeletal muscle development;IEA|GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0010628;positive regulation of gene expression;IGI|GO:0010737;protein kinase A signaling;IMP|GO:0045214;sarcomere organization;IBA|GO:0050714;positive regulation of protein secretion;IGI|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005863;striated muscle myosin thick filament;TAS|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA	GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM1	https://www.uniprot.org/uniprot/P52179		https://www.ncbi.nlm.nih.gov/omim/?term=603508	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM1&submit=Quick%0D%2765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM1	rs7505171	0.660743	0	0	1	0	0	intronic	intronic	intronic	MYOM1	MYOM1	ENSG00000101605	Na	Na	Na	Na	Na	Na	Het;T>A	47;5|4	Hom;T>A	192;0|8
N	N	-	18	31958395	31958395	C	CTAGATAGA	indel	intergenic	 	 	 	 	AC104985.1																		rs36027701	0	0	0	1	0	0	intergenic	intergenic	intergenic	NOL4(dist=154880),DTNA(dist=114859)	NOL4(dist=154880),DTNA(dist=114859)	ENSG00000267746(dist=153670),ENSG00000134769(dist=114859)	Na	Na	Na	Na	Na	Na	Het;+TAGATAGA	129;1|3	Hom;+TAGATAGA	143;0|4
N	N	-	18	33243536	33243536	A	G	snp	intronic	 	 	 	 	GALNT1	Galnt1	ENSG00000141429	polypeptide N-acetylgalactosaminyltransferase 1	chr18:33161081-33291798	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]	Monocytes; Amyotrophic Lateral Sclerosis|; ovarian cancer	Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia.	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT1	https://www.uniprot.org/uniprot/Q10472		https://www.ncbi.nlm.nih.gov/omim/?term=602273	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT1&submit=Quick%0D%8158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT1	rs3744989	0.230032	0	0	1	0	0	intronic	intronic	intronic	GALNT1	GALNT1	ENSG00000141429	Na	Na	Na	Na	Na	Na	Het;A>G	113;6|5	Hom;A>G	383;0|14
N	N	-	18	33269267	33269267	A	C	snp	intronic	 	 	 	 	GALNT1	Galnt1	ENSG00000141429	polypeptide N-acetylgalactosaminyltransferase 1	chr18:33161081-33291798	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]	Monocytes; Amyotrophic Lateral Sclerosis|; ovarian cancer	Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia.	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT1	https://www.uniprot.org/uniprot/Q10472		https://www.ncbi.nlm.nih.gov/omim/?term=602273	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT1&submit=Quick%0D%8158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT1	rs3737382	0.10643	0	0.0855	1	0	0	intronic	intronic	intronic	GALNT1	GALNT1	ENSG00000141429	Na	Na	Na	Na	Na	Na	Het;A>C	2189;83|62	Hom;A>C	6800;2|160
N	N	-	18	33269274	33269274	T	A	snp	intronic	 	 	 	 	GALNT1	Galnt1	ENSG00000141429	polypeptide N-acetylgalactosaminyltransferase 1	chr18:33161081-33291798	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]	Monocytes; Amyotrophic Lateral Sclerosis|; ovarian cancer	Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia.	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT1	https://www.uniprot.org/uniprot/Q10472		https://www.ncbi.nlm.nih.gov/omim/?term=602273	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT1&submit=Quick%0D%8158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT1	rs3737383	0.208466	0.1074	0.1960	1	0	0	intronic	intronic	intronic	GALNT1	GALNT1	ENSG00000141429	Na	Na	Na	Na	Na	Na	Het;T>A	2096;79|55	Hom;T>A	6499;2|148
N	N	-	18	33272396	33272396	A	G	snp	intronic	 	 	 	 	GALNT1	Galnt1	ENSG00000141429	polypeptide N-acetylgalactosaminyltransferase 1	chr18:33161081-33291798	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]	Monocytes; Amyotrophic Lateral Sclerosis|; ovarian cancer	Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia.	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT1	https://www.uniprot.org/uniprot/Q10472		https://www.ncbi.nlm.nih.gov/omim/?term=602273	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT1&submit=Quick%0D%8158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT1	rs3737384	0.0828674	0	0	1	0	0	intronic	intronic	intronic	GALNT1	GALNT1	ENSG00000141429	Na	Na	Na	Na	Na	Na	Het;A>G	107;4|4	Hom;A>G	336;0|9
N	N	-	18	33283000	33283000	A	AT	indel	intronic	 	 	 	 	GALNT1	Galnt1	ENSG00000141429	polypeptide N-acetylgalactosaminyltransferase 1	chr18:33161081-33291798	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]	Monocytes; Amyotrophic Lateral Sclerosis|; ovarian cancer	Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia.	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT1	https://www.uniprot.org/uniprot/Q10472		https://www.ncbi.nlm.nih.gov/omim/?term=602273	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT1&submit=Quick%0D%8158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT1	rs146875761	0.0826677	0.0907	0.0772	1	0	0	intronic	intronic	intronic	GALNT1	GALNT1	ENSG00000141429	Na	Na	Na	Na	Na	Na	Het;+T	1492;37|52	Hom;+T	3171;3|96
N	N	-	18	33422218	33422218	A	T	snp	ncRNA_exonic	 	 	 	 	NRBF2P1																		rs61740693	0.320887	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	GALNT1(dist=130420),MIR187(dist=62563)	GALNT1(dist=130420),MIR187(dist=62563)	ENSG00000267797	Na	Na	Na	Na	Na	Na	Het;A>T	331;23|16	Hom;A>T	1285;0|49
N	N	-	18	334994	334994	A	G	snp	nonsynonymous SNV	T1564C	S522P	polar,hydrophilic,neutral	hydrophobic,neutral	COLEC12	Colec12	ENSG00000158270	collectin subfamily member 12	chr18:319361-500722	This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]	Tobacco Use Disorder	 	Scavenging by Class A Receptors	GO:0006898;receptor-mediated endocytosis;TAS|GO:0006910;phagocytosis, recognition;IDA|GO:0006952;defense response;TAS|GO:0006955;immune response;IEA|GO:0009756;carbohydrate mediated signaling;NAS|GO:0034138;toll-like receptor 3 signaling pathway;IMP|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS|GO:0051260;protein homooligomerization;NAS|GO:0060355;positive regulation of cell adhesion molecule production;IMP|GO:0071360;cellular response to exogenous dsRNA;IMP	GO:0005581;collagen trimer;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005044;scavenger receptor activity;TAS|GO:0005534;galactose binding;NAS|GO:0008329;signaling pattern recognition receptor activity;IDA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COLEC12			https://www.ncbi.nlm.nih.gov/omim/?term=607621	http://www.informatics.jax.org/searchtool/Search.do?query=COLEC12&submit=Quick%0D%10187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COLEC12	rs2305025	0.6252	0.6191	0.6262	0.15	2	13	exonic	exonic	exonic	COLEC12	COLEC12	ENSG00000158270	nonsynonymous SNV	nonsynonymous SNV	unknown	COLEC12:NM_130386:exon6:c.T1564C:p.S522P,	COLEC12:uc002kkm.3:exon6:c.T1564C:p.S522P,	UNKNOWN	Het;A>G	1025;26|43	Hom;A>G	2067;0|71
N	N	-	18	33552568	33552568	C	T	snp	UTR5	-124C>T	 	 	 	C18orf21	Gm9182	ENSG00000141428	chromosome 18 open reading frame 21	chr18:33552046-33559241			 					http://www.genecards.org/index.php?path=/Search/keyword/C18orf21	https://www.uniprot.org/uniprot/Q32NC0			http://www.informatics.jax.org/searchtool/Search.do?query=C18orf21&submit=Quick%0D%8157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf21	rs4573997	0.252196	0	0	1	0	0	upstream	upstream	UTR5	C18orf21	C18orf21	ENSG00000141428(ENST00000592875:c.-124C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	67;4|4	Hom;C>T	181;0|7
N	N	-	18	33557466	33557466	A	G	snp	nonsynonymous SNV	A130G	T44A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	C18orf21	Gm9182	ENSG00000141428	chromosome 18 open reading frame 21	chr18:33552046-33559241			 					http://www.genecards.org/index.php?path=/Search/keyword/C18orf21	https://www.uniprot.org/uniprot/Q32NC0			http://www.informatics.jax.org/searchtool/Search.do?query=C18orf21&submit=Quick%0D%8157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf21	rs2276314	0.2498	0.2543	0.2347	0.15	2	13	exonic	exonic	exonic	C18orf21	C18orf21	ENSG00000141428	nonsynonymous SNV	nonsynonymous SNV	unknown	C18orf21:NM_001201474:exon3:c.A130G:p.T44A,C18orf21:NM_031446:exon4:c.A394G:p.T132A,C18orf21:NM_001201475:exon3:c.A130G:p.T44A,	C18orf21:uc021uiu.1:exon3:c.A130G:p.T44A,C18orf21:uc002kzc.3:exon4:c.A394G:p.T132A,C18orf21:uc002kzd.3:exon3:c.A130G:p.T44A,	UNKNOWN	Het;A>G	711;44|36	Hom;A>G	2999;0|109
N	N	-	18	33613595	33613595	T	C	snp	intronic	 	 	 	 	RPRD1A	Rprd1a	ENSG00000141425	regulation of nuclear pre-mRNA domain containing 1A	chr18:33564350-33647539	This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]		 	RNA polymerase II transcribes snRNA genes	GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0070940;dephosphorylation of RNA polymerase II C-terminal domain;IMP	GO:0005654;nucleoplasm;TAS|GO:0016591;DNA-directed RNA polymerase II, holoenzyme;IDA		http://www.genecards.org/index.php?path=/Search/keyword/RPRD1A	https://www.uniprot.org/uniprot/Q96P16		https://www.ncbi.nlm.nih.gov/omim/?term=610347	http://www.informatics.jax.org/searchtool/Search.do?query=RPRD1A&submit=Quick%0D%8156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPRD1A	rs3737474	0.230232	0	0	1	0	0	intronic	intronic	intronic	RPRD1A	RPRD1A	ENSG00000141425	Na	Na	Na	Na	Na	Na	Het;T>C	568;15|21	Hom;T>C	904;2|32
N	N	-	18	34081849	34081849	A	G	snp	intronic	 	 	 	 	FHOD3	Fhod3	ENSG00000134775	formin homology 2 domain containing 3	chr18:33877677-34360018	The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL	Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality.		GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FHOD3	https://www.uniprot.org/uniprot/Q2V2M9		https://www.ncbi.nlm.nih.gov/omim/?term=609691	http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3	rs17565834	0.225439	0.3555	0.3351	1	0	0	intronic	intronic	intronic	FHOD3	FHOD3	ENSG00000134775	Na	Na	Na	Na	Na	Na	Het;A>G	365;12|17	Hom;A>G	914;0|35
N	N	-	18	34092635	34092635	T	A	snp	intronic	 	 	 	 	FHOD3	Fhod3	ENSG00000134775	formin homology 2 domain containing 3	chr18:33877677-34360018	The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL	Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality.		GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FHOD3	https://www.uniprot.org/uniprot/Q2V2M9		https://www.ncbi.nlm.nih.gov/omim/?term=609691	http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3	rs10153411	0.582668	0	0	1	0	0	intronic	intronic	intronic	FHOD3	FHOD3	ENSG00000134775	Na	Na	Na	Na	Na	Na	Het;T>A	698;12|28	Hom;T>A	1484;0|50
N	N	-	18	34092652	34092653	GC	G	indel	intronic	 	 	 	 	FHOD3	Fhod3	ENSG00000134775	formin homology 2 domain containing 3	chr18:33877677-34360018	The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL	Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality.		GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FHOD3	https://www.uniprot.org/uniprot/Q2V2M9		https://www.ncbi.nlm.nih.gov/omim/?term=609691	http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3	rs34586462	0.0115815	0	0	1	0	0	intronic	intronic	intronic	FHOD3	FHOD3	ENSG00000134775	Na	Na	Na	Na	Na	Na	Het;-C	681;10|18	Hom;-C	1707;0|41
N	N	-	18	34092656	34092664	TAGGTAAAA	T	indel	intronic	 	 	 	 	FHOD3	Fhod3	ENSG00000134775	formin homology 2 domain containing 3	chr18:33877677-34360018	The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL	Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality.		GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FHOD3	https://www.uniprot.org/uniprot/Q2V2M9		https://www.ncbi.nlm.nih.gov/omim/?term=609691	http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3	rs34982026	0	0	0	1	0	0	intronic	intronic	intronic	FHOD3	FHOD3	ENSG00000134775	Na	Na	Na	Na	Na	Na	Het;-AGGTAAAA	681;10|18	Hom;-AGGTAAAA	1707;0|36
N	N	-	18	3458202	3458203	AT	A	indel	UTR3	*264_*265delinsA	 	 	 	TGIF1	Tgif1	ENSG00000177426	TGFB induced factor homeobox 1	chr18:3411606-3458409	The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]	psychosis; Cleft Lip|Cleft Palate; Waist Circumference; myopia; Cholesterol, LDL; Myopia; Myopia, Degenerative; Alcoholism	Homozygous null mice display normal growth, behavior and fertility.	SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;TAS|GO:0010629;negative regulation of gene expression;IEA|GO:0042493;response to drug;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0070410;co-SMAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGIF1		https://hpo.jax.org/app/browse/search?q=TGIF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602630	http://www.informatics.jax.org/searchtool/Search.do?query=TGIF1&submit=Quick%0D%14020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGIF1	rs71366664	0.184704	0	0	1	0	0	UTR3	UTR3	UTR3	TGIF1(NM_174886:c.*264_*265delinsA,NM_001278686:c.*264_*265delinsA,NM_173207:c.*264_*265delinsA,NM_001278682:c.*264_*265delinsA,NM_173209:c.*264_*265delinsA,NM_173208:c.*264_*265delinsA,NM_001278684:c.*264_*265delinsA,NM_003244:c.*264_*265delinsA,NM_173210:c.*264_*265delinsA,NM_170695:c.*264_*265delinsA,NM_173211:c.*264_*265delinsA)	TGIF1(uc002klu.3:c.*264_*265delinsA,uc002klv.3:c.*264_*265delinsA,uc002klw.3:c.*264_*265delinsA,uc002klx.3:c.*264_*265delinsA,uc002kly.3:c.*264_*265delinsA,uc002klz.3:c.*264_*265delinsA,uc002kma.3:c.*264_*265delinsA,uc002kmb.3:c.*264_*265delinsA,uc002kmc.3:c.*264_*265delinsA)	ENSG00000177426(ENST00000401449:c.*264_*265delinsA,ENST00000548489:c.*264_*265delinsA,ENST00000343820:c.*264_*265delinsA,ENST00000407501:c.*264_*265delinsA,ENST00000405385:c.*264_*265delinsA,ENST00000330513:c.*264_*265delinsA,ENST00000400167:c.*264_*265delinsA,ENST00000472042:c.*264_*265delinsA)	Na	Na	Na	Na	Na	Na	Het;-T	272;31|18	Hom;-T	816;0|34
N	N	-	18	35105277	35105277	C	G	snp	intronic	 	 	 	 	CELF4	Celf4	ENSG00000101489	CUGBP Elav-like family member 4	chr18:34823010-35146000	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	response to iloperidone treatment (QT prolongation); colorectal cancer; Isoxazoles; Angiography; Tobacco Use Disorder; Lipids; Monocytes; Telomere; Celiac Disease|; telomere length	Mice homozygous for a null allele exhibit neonatal lethality, shortened life span dependent on genetic background, and seizures.  Mice heterozygous for a null allele exhibit complex seizures and abnormal body weights depending on age.		GO:0000380;alternative mRNA splicing, via spliceosome;IDA|GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IDA|GO:0006376;mRNA splice site selection;IEA|GO:0006397;mRNA processing;IEA|GO:0007281;germ cell development;NAS|GO:0008380;RNA splicing;IEA|GO:0009790;embryo development;NAS|GO:0017148;negative regulation of translation;IEA|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IEA|GO:0048026;positive regulation of mRNA splicing, via spliceosome;IDA|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1902866;regulation of retina development in camera-type eye;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000900;translation repressor activity, nucleic acid binding;NAS|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0042835;BRE binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CELF4	https://www.uniprot.org/uniprot/Q9BZC1		https://www.ncbi.nlm.nih.gov/omim/?term=612679	http://www.informatics.jax.org/searchtool/Search.do?query=CELF4&submit=Quick%0D%2755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELF4	rs71365665	0.297324	0	0	1	0	0	intronic	intronic	intronic	CELF4	CELF4	ENSG00000101489	Na	Na	Na	Na	Na	Na	Het;C>G	103;8|4	Hom;C>G	233;0|7
N	N	-	18	35105378	35105378	C	G	snp	intronic	 	 	 	 	CELF4	Celf4	ENSG00000101489	CUGBP Elav-like family member 4	chr18:34823010-35146000	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	response to iloperidone treatment (QT prolongation); colorectal cancer; Isoxazoles; Angiography; Tobacco Use Disorder; Lipids; Monocytes; Telomere; Celiac Disease|; telomere length	Mice homozygous for a null allele exhibit neonatal lethality, shortened life span dependent on genetic background, and seizures.  Mice heterozygous for a null allele exhibit complex seizures and abnormal body weights depending on age.		GO:0000380;alternative mRNA splicing, via spliceosome;IDA|GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IDA|GO:0006376;mRNA splice site selection;IEA|GO:0006397;mRNA processing;IEA|GO:0007281;germ cell development;NAS|GO:0008380;RNA splicing;IEA|GO:0009790;embryo development;NAS|GO:0017148;negative regulation of translation;IEA|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IEA|GO:0048026;positive regulation of mRNA splicing, via spliceosome;IDA|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1902866;regulation of retina development in camera-type eye;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000900;translation repressor activity, nucleic acid binding;NAS|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0042835;BRE binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CELF4	https://www.uniprot.org/uniprot/Q9BZC1		https://www.ncbi.nlm.nih.gov/omim/?term=612679	http://www.informatics.jax.org/searchtool/Search.do?query=CELF4&submit=Quick%0D%2755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELF4	rs12607078	0	0	0	1	0	0	intronic	intronic	intronic	CELF4	CELF4	ENSG00000101489	Na	Na	Na	Na	Na	Na	Het;C>G	645;39|29	Hom;C>G	1217;0|45
N	N	-	18	35105402	35105402	G	C	snp	intronic	 	 	 	 	CELF4	Celf4	ENSG00000101489	CUGBP Elav-like family member 4	chr18:34823010-35146000	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	response to iloperidone treatment (QT prolongation); colorectal cancer; Isoxazoles; Angiography; Tobacco Use Disorder; Lipids; Monocytes; Telomere; Celiac Disease|; telomere length	Mice homozygous for a null allele exhibit neonatal lethality, shortened life span dependent on genetic background, and seizures.  Mice heterozygous for a null allele exhibit complex seizures and abnormal body weights depending on age.		GO:0000380;alternative mRNA splicing, via spliceosome;IDA|GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IDA|GO:0006376;mRNA splice site selection;IEA|GO:0006397;mRNA processing;IEA|GO:0007281;germ cell development;NAS|GO:0008380;RNA splicing;IEA|GO:0009790;embryo development;NAS|GO:0017148;negative regulation of translation;IEA|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IEA|GO:0048026;positive regulation of mRNA splicing, via spliceosome;IDA|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1902866;regulation of retina development in camera-type eye;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000900;translation repressor activity, nucleic acid binding;NAS|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0042835;BRE binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CELF4	https://www.uniprot.org/uniprot/Q9BZC1		https://www.ncbi.nlm.nih.gov/omim/?term=612679	http://www.informatics.jax.org/searchtool/Search.do?query=CELF4&submit=Quick%0D%2755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELF4	rs36018831	0.292133	0	0	1	0	0	intronic	intronic	intronic	CELF4	CELF4	ENSG00000101489	Na	Na	Na	Na	Na	Na	Het;G>C	737;49|38	Hom;G>C	1724;2|66
N	N	-	18	38229232	38229232	G	T	snp	intergenic	 	 	 	 	ENSG00000238333																		rs9953522	0.460863	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01477(dist=550035),KC6(dist=831004)	BC045816(dist=550035),KC6(dist=831004)	ENSG00000238333(dist=176386),ENSG00000267313(dist=818163)	Na	Na	Na	Na	Na	Na	Het;G>T	149;10|9	Hom;G>T	170;0|8
N	N	-	18	38278004	38278004	T	A	snp	intergenic	 	 	 	 	ENSG00000238333																		rs9946537	0.464457	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01477(dist=598807),KC6(dist=782232)	BC045816(dist=598807),KC6(dist=782232)	ENSG00000238333(dist=225158),ENSG00000267313(dist=769391)	Na	Na	Na	Na	Na	Na	Het;T>A	100;6|5	Hom;T>A	304;0|10
N	N	-	18	3962410	3962410	C	T	snp	ncRNA_exonic	 	 	 	 	DLGAP1-AS4																		rs17573936	0.351637	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DLGAP1-AS4	DLGAP1-AS4	ENSG00000263878	Na	Na	Na	Na	Na	Na	Het;C>T	852;26|41	Hom;C>T	1578;0|56
N	N	-	18	3995126	3995127	AT	A	indel	ncRNA_intronic	 	 	 	 	DLGAP1-AS4																		rs11294977	0.688099	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DLGAP1-AS4	DLGAP1-AS4	ENSG00000263878	Na	Na	Na	Na	Na	Na	Het;-T	242;5|7	Hom;-T	321;0|8
N	N	-	18	3995132	3995132	T	A	snp	ncRNA_intronic	 	 	 	 	DLGAP1-AS4																		rs79343925	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DLGAP1-AS4	DLGAP1-AS4	ENSG00000263878	Na	Na	Na	Na	Na	Na	Het;T>A	251;5|7	Hom;T>A	330;0|8
N	N	-	18	3995794	3995794	T	C	snp	ncRNA_intronic	 	 	 	 	DLGAP1-AS4																		rs9956420	0.283147	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DLGAP1-AS4	DLGAP1-AS4	ENSG00000263878	Na	Na	Na	Na	Na	Na	Het;T>C	185;10|9	Hom;T>C	761;0|24
N	N	-	18	40037779	40037779	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00907																		rs346195	0.50619	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LINC00907	LINC00907	ENSG00000267586	Na	Na	Na	Na	Na	Na	Het;G>A	359;23|19	Hom;G>A	696;0|25
N	N	-	18	40038875	40038875	T	A	snp	ncRNA_exonic	 	 	 	 	LINC00907																		rs394078	0.505391	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LINC00907	LINC00907	ENSG00000267586	Na	Na	Na	Na	Na	Na	Het;T>A	377;13|15	Hom;T>A	876;0|29
N	N	-	18	40154724	40154730	GTGTTTT	G	indel	ncRNA_intronic	 	 	 	 	LINC00907																		rs144764203	0.0159744	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC00907	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000267586	Na	Na	Na	Na	Na	Na	Het;-TGTTTT	86;1|3	Hom;-TGTTTT	819;0|19
N	N	-	18	40423700	40423700	G	C	snp	intronic	 	 	 	 	RIT2	Rit2	ENSG00000152214	Ras like without CAAX 2	chr18:40323192-40695657	RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]	Body Weight; Cognitive performance; Tobacco Use Disorder; Schizophrenia; Conduct Disorder; Arthritis, Rheumatoid; Body Mass Index; Parkinson Disease	 	Signalling to p38 via RIT and RIN	GO:0001932;regulation of protein phosphorylation;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;NAS|GO:0007265;Ras protein signal transduction;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030100;regulation of endocytosis;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IEA|GO:0032507;maintenance of protein location in cell;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050848;regulation of calcium-mediated signaling;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0043005;neuron projection;IDA|GO:0044297;cell body;IEA|GO:0045121;membrane raft;IDA|GO:0097447;dendritic tree;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003924;GTPase activity;NAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005525;GTP binding;IEA|GO:0030215;semaphorin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RIT2	https://www.uniprot.org/uniprot/Q99578		https://www.ncbi.nlm.nih.gov/omim/?term=609592	http://www.informatics.jax.org/searchtool/Search.do?query=RIT2&submit=Quick%0D%9518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT2	rs17635641	0.0948482	0	0	1	0	0	intronic	intronic	intronic	RIT2	RIT2	ENSG00000152214	Na	Na	Na	Na	Na	Na	Het;G>C	616;40|32	Hom;G>C	1949;0|73
N	N	-	18	4099242	4099242	G	A	snp	intronic	 	 	 	 	DLGAP1	Dlgap1	ENSG00000170579	DLG associated protein 1	chr18:3496030-4455335		Body Mass Index; Arteries; Tobacco Use Disorder; Urinalysis; Sleep; Body Fat Distribution; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; Hip; Hematocrit; Neuroblastoma; Echocardiography; Body Weights and Measures; Heart Failure; Creatinine; Neuropsychological Tests; Type 2 Diabetes| edema | rosiglitazone; Cholesterol; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Iron	Mice homozygous for a knock-out allele exhibit deficits in sociability.	Neurexins and neuroligins	GO:0007268;chemical synaptic transmission;NAS|GO:0023052;signaling;IEA	GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DLGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=605445	http://www.informatics.jax.org/searchtool/Search.do?query=DLGAP1&submit=Quick%0D%12739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLGAP1	rs7505745	0.348842	0	0	1	0	0	intronic	intronic	intronic	DLGAP1	DLGAP1	ENSG00000170579	Na	Na	Na	Na	Na	Na	Het;G>A	492;2|13	Hom;G>A	467;0|11
N	N	-	18	4099270	4099274	GTCTA	G	indel	intronic	 	 	 	 	DLGAP1	Dlgap1	ENSG00000170579	DLG associated protein 1	chr18:3496030-4455335		Body Mass Index; Arteries; Tobacco Use Disorder; Urinalysis; Sleep; Body Fat Distribution; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; Hip; Hematocrit; Neuroblastoma; Echocardiography; Body Weights and Measures; Heart Failure; Creatinine; Neuropsychological Tests; Type 2 Diabetes| edema | rosiglitazone; Cholesterol; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Iron	Mice homozygous for a knock-out allele exhibit deficits in sociability.	Neurexins and neuroligins	GO:0007268;chemical synaptic transmission;NAS|GO:0023052;signaling;IEA	GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DLGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=605445	http://www.informatics.jax.org/searchtool/Search.do?query=DLGAP1&submit=Quick%0D%12739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLGAP1	rs145071677	0.203474	0	0	1	0	0	intronic	intronic	intronic	DLGAP1	DLGAP1	ENSG00000170579	Na	Na	Na	Na	Na	Na	Het;-TCTA	530;3|16	Hom;-TCTA	458;0|11
N	N	-	18	4099337	4099353	ATCTATCTATCTGTCTG	A	indel	intronic	 	 	 	 	DLGAP1	Dlgap1	ENSG00000170579	DLG associated protein 1	chr18:3496030-4455335		Body Mass Index; Arteries; Tobacco Use Disorder; Urinalysis; Sleep; Body Fat Distribution; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; Hip; Hematocrit; Neuroblastoma; Echocardiography; Body Weights and Measures; Heart Failure; Creatinine; Neuropsychological Tests; Type 2 Diabetes| edema | rosiglitazone; Cholesterol; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Iron	Mice homozygous for a knock-out allele exhibit deficits in sociability.	Neurexins and neuroligins	GO:0007268;chemical synaptic transmission;NAS|GO:0023052;signaling;IEA	GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DLGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=605445	http://www.informatics.jax.org/searchtool/Search.do?query=DLGAP1&submit=Quick%0D%12739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLGAP1	rs201448365	0	0	0	1	0	0	intronic	intronic	intronic	DLGAP1	DLGAP1	ENSG00000170579	Na	Na	Na	Na	Na	Na	Het;-TCTATCTATCTGTCTG	248;3|7	Hom;-TCTATCTATCTGTCTG	162;0|5
N	N	-	18	4293666	4293666	A	G	snp	ncRNA_exonic	 	 	 	 	DLGAP1-AS5																		rs619143	0.527955	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DLGAP1-AS5	DLGAP1-AS5	ENSG00000261520	Na	Na	Na	Na	Na	Na	Het;A>G	1679;59|71	Hom;A>G	4189;0|147
N	N	-	18	4295384	4295384	C	T	snp	ncRNA_exonic	 	 	 	 	DLGAP1-AS5																		rs523436	0.581669	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DLGAP1-AS5	DLGAP1-AS5	ENSG00000261520	Na	Na	Na	Na	Na	Na	Het;C>T	1592;149|79	Hom;C>T	7014;0|252
N	N	-	18	43018264	43018264	T	C	snp	ncRNA_exonic	 	 	 	 	SLC14A2-AS1																		rs1054986	0.286741	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SLC14A2-AS1	AK126075	ENSG00000267097	Na	Na	Na	Na	Na	Na	Het;T>C	1298;43|58	Hom;T>C	2615;0|95
N	N	-	18	43028091	43028091	A	T	snp	ncRNA_exonic	 	 	 	 	SLC14A2-AS1																		rs1421197	0.1875	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	SLC14A2-AS1	AK126075	ENSG00000267097	Na	Na	Na	Na	Na	Na	Het;A>T	1542;76|73	Hom;A>T	2167;0|74
N	N	-	18	43028119	43028119	T	C	snp	ncRNA_exonic	 	 	 	 	SLC14A2-AS1																		rs1421198	0.192492	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	SLC14A2-AS1	AK126075	ENSG00000267097	Na	Na	Na	Na	Na	Na	Het;T>C	1472;57|60	Hom;T>C	2171;0|72
N	N	-	18	44390422	44390422	A	C	snp	UTR3	*1974T>G	 	 	 	PIAS2	Pias2	ENSG00000078043	protein inhibitor of activated STAT 2	chr18:44388353-44500123	This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2011]		An uncharacterized gene trap insertion does not result in an obvious phenotype  although abnormalities are reported in the testes.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0016925;protein sumoylation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060766;negative regulation of androgen receptor signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IEA|GO:0016605;PML body;IDA|GO:0016607;nuclear speck;IEA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0016874;ligase activity;IEA|GO:0019789;SUMO transferase activity;EXP|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;NAS|GO:0061665;SUMO ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PIAS2	https://www.uniprot.org/uniprot/O75928		https://www.ncbi.nlm.nih.gov/omim/?term=603567	http://www.informatics.jax.org/searchtool/Search.do?query=PIAS2&submit=Quick%0D%1642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIAS2	rs76577993	0.0169728	0	0	1	0	0	UTR3	UTR3	UTR3	PIAS2(NM_004671:c.*1974T>G)	PIAS2(uc002lck.3:c.*1974T>G,uc010dnp.3:c.*1974T>G)	ENSG00000078043(ENST00000585916:c.*1974T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	1371;74|60	Hom;A>C	3277;4|119
N	N	-	18	45395845	45395846	TA	T	indel	intronic	 	 	 	 	SMAD2	Smad2	ENSG00000175387	SMAD family member 2	chr18:45357922-45457515	The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]	Pancreatic Neoplasms; inflammatory bowel disease | colorectal cancer ; Hypertension, Pulmonary; Bone Mineral Density; Hepatopulmonary Syndrome|Liver Cirrhosis; esophageal adenocarcinoma; bone density; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Cleft Lip|Cleft Palate; colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	Homozygous mutant embryos die at day 6.5-8.5 with multiple defects, including failed gastrulation, lack of mesoderm, visceral endoderm dysfunction and failure to form anterior-posterior axis. Heterozygotes may show gastrulation defects and lack mandible or eyes.	Ub-specific processing proteases	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001657;ureteric bud development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001706;endoderm formation;IEA|GO:0001707;mesoderm formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;ISS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007352;zygotic specification of dorsal/ventral axis;IMP|GO:0007369;gastrulation;TAS|GO:0007389;pattern specification process;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IEA|GO:0016579;protein deubiquitination;TAS|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0031016;pancreas development;IEA|GO:0031053;primary miRNA processing;TAS|GO:0032924;activin receptor signaling pathway;IMP|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035265;organ growth;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038092;nodal signaling pathway;IMP|GO:0045165;cell fate commitment;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048340;paraxial mesoderm morphogenesis;IEA|GO:0048589;developmental growth;IEA|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0051098;regulation of binding;IEA|GO:0060021;palate development;IEA|GO:0060039;pericardium development;IEA|GO:0060395;SMAD protein signal transduction;IEA|GO:0070723;response to cholesterol;IDA|GO:1900224;positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032444;activin responsive factor complex;IDA|GO:0043234;protein complex;IMP|GO:0071141;SMAD protein complex;IDA|GO:0071144;SMAD2-SMAD3 protein complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005160;transforming growth factor beta receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;ISS|GO:0019902;phosphatase binding;IPI|GO:0030618;transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0033613;activating transcription factor binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IPI|GO:0035326;enhancer binding;IC|GO:0042803;protein homodimerization activity;IEA|GO:0046332;SMAD binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0070410;co-SMAD binding;IPI|GO:0070411;I-SMAD binding;IPI|GO:0070412;R-SMAD binding;IPI|GO:0070878;primary miRNA binding;IPI|GO:0097718;disordered domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMAD2			https://www.ncbi.nlm.nih.gov/omim/?term=601366	http://www.informatics.jax.org/searchtool/Search.do?query=SMAD2&submit=Quick%0D%13692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMAD2	rs34501809	0.520168	0	0.4489	1	0	0	intronic	intronic	intronic	SMAD2	SMAD2	ENSG00000175387	Na	Na	Na	Na	Na	Na	Het;-A	275;10|21	Hom;-A	600;3|34
N	N	-	18	46196880	46196880	T	G	snp	intronic	 	 	 	 	CTIF	Ctif	ENSG00000282825	cap binding complex dependent translation initiation factor	chr18:46065417-46389588	CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]	Cholesterol, HDL; Tobacco Use Disorder; Glucose; Echocardiography; Pancreatic Neoplasms; Iron; Receptors, Tumor Necrosis Factor; Parkinson Disease	 		GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IEA|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CTIF	https://www.uniprot.org/uniprot/O43310		https://www.ncbi.nlm.nih.gov/omim/?term=613178	http://www.informatics.jax.org/searchtool/Search.do?query=CTIF&submit=Quick%0D%22623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTIF	rs2279304	0.727636	0	0	1	0	0	intronic	intronic	intronic	CTIF	CTIF	ENSG00000134030	Na	Na	Na	Na	Na	Na	Het;T>G	72;2|3	Hom;T>G	407;0|11
N	N	-	18	46383898	46383898	T	C	snp	intronic	 	 	 	 	CTIF	Ctif	ENSG00000282825	cap binding complex dependent translation initiation factor	chr18:46065417-46389588	CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]	Cholesterol, HDL; Tobacco Use Disorder; Glucose; Echocardiography; Pancreatic Neoplasms; Iron; Receptors, Tumor Necrosis Factor; Parkinson Disease	 		GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IEA|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CTIF	https://www.uniprot.org/uniprot/O43310		https://www.ncbi.nlm.nih.gov/omim/?term=613178	http://www.informatics.jax.org/searchtool/Search.do?query=CTIF&submit=Quick%0D%22623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTIF	rs937022	0.165136	0.1222	0	1	0	0	intronic	intronic	intronic	CTIF	CTIF	ENSG00000134030	Na	Na	Na	Na	Na	Na	Het;T>C	344;4|12	Hom;T>C	573;2|24
N	N	-	18	46385948	46385948	A	G	snp	UTR3	*18A>G	 	 	 	CTIF	Ctif	ENSG00000282825	cap binding complex dependent translation initiation factor	chr18:46065417-46389588	CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]	Cholesterol, HDL; Tobacco Use Disorder; Glucose; Echocardiography; Pancreatic Neoplasms; Iron; Receptors, Tumor Necrosis Factor; Parkinson Disease	 		GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IEA|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CTIF	https://www.uniprot.org/uniprot/O43310		https://www.ncbi.nlm.nih.gov/omim/?term=613178	http://www.informatics.jax.org/searchtool/Search.do?query=CTIF&submit=Quick%0D%22623ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTIF	rs3752082	0.573882	0.6661	0.5362	1	0	0	UTR3	UTR3	UTR3	CTIF(NM_001142397:c.*18A>G,NM_014772:c.*18A>G)	CTIF(uc002ldd.3:c.*18A>G,uc002ldc.3:c.*18A>G,uc002lde.4:c.*18A>G)	ENSG00000134030(ENST00000256413:c.*18A>G,ENST00000382998:c.*18A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	787;16|36	Hom;A>G	1040;0|37
N	N	-	18	47093790	47093790	C	T	snp	intronic	 	 	 	 	LIPG	Lipg	ENSG00000101670	lipase G, endothelial type	chr18:47087069-47119272	The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]	Cholesterol; null; Blood Pressure; Cholesterol, HDL; Lipoproteins, HDL; Cardiovascular Diseases; triglycerides; myocardial infarct; HDL-cholesterol; Atherosclerosis; cerebral infarct, atherothrombotic; Lipid Metabolism; Coronary Artery Disease|Thrombosis|Venous Thrombosis; Echocardiography; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Hypertriglyceridemia; Cholesterol, total; Coronary Disease|; BMI- Edema rosiglitazone or pioglitazone; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; cholesterol, HDL; triglycerides; lipoprotein; HDL cholesterol; cholesterol, HDL; lipid profiles; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; dementia; atherosclerosis; Kidney Failure, Chronic; High-density lipoprotein-cholesterol levels; Coronary Artery Disease; plasma HDL-C levels; Type 2 diabetes; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a null allele exhibit increased circulating total cholesterol and HDL as well as decreased monocyte binding to vascular endothelium.	HDL remodeling	GO:0006629;lipid metabolic process;IEA|GO:0007584;response to nutrient;IEA|GO:0008283;cell proliferation;IEA|GO:0009395;phospholipid catabolic process;NAS|GO:0010983;positive regulation of high-density lipoprotein particle clearance;IMP|GO:0016042;lipid catabolic process;IEA|GO:0032376;positive regulation of cholesterol transport;IDA|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0042632;cholesterol homeostasis;IMP|GO:0043691;reverse cholesterol transport;IMP|GO:0050746;regulation of lipoprotein metabolic process;IEA|GO:0055091;phospholipid homeostasis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0009986;cell surface;IDA	GO:0004465;lipoprotein lipase activity;IEA|GO:0004620;phospholipase activity;IDA|GO:0004806;triglyceride lipase activity;IEA|GO:0008201;heparin binding;IEA|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPG	https://www.uniprot.org/uniprot/Q9Y5X9		https://www.ncbi.nlm.nih.gov/omim/?term=603684	http://www.informatics.jax.org/searchtool/Search.do?query=LIPG&submit=Quick%0D%2772ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPG	rs2000812	0.790136	0.8580	0.7773	1	0	0	intronic	intronic	intronic	LIPG	LIPG	ENSG00000101670	Na	Na	Na	Na	Na	Na	Het;C>T	626;32|27	Hom;C>T	769;0|32
N	N	-	18	47463587	47463587	A	G	snp	intronic	 	 	 	 	MYO5B	Myo5b	ENSG00000167306	myosin VB	chr18:47349183-47721463	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Diabetic Nephropathies; Forced Expiratory Volume; Diabetes Mellitus	Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease.	Vasopressin regulates renal water homeostasis via Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0032439;endosome localization;IMP	GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0045179;apical cortex;IDA|GO:0055037;recycling endosome;IC|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO5B		https://hpo.jax.org/app/browse/search?q=MYO5B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606540	http://www.informatics.jax.org/searchtool/Search.do?query=MYO5B&submit=Quick%0D%11992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5B	rs1790797	0.660743	0.7495	0.6830	1	0	0	intronic	intronic	intronic	MYO5B	MYO5B	ENSG00000167306	Na	Na	Na	Na	Na	Na	Het;A>G	592;14|29	Hom;A>G	818;0|32
N	N	-	18	47463872	47463872	A	G	snp	intronic	 	 	 	 	MYO5B	Myo5b	ENSG00000167306	myosin VB	chr18:47349183-47721463	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Diabetic Nephropathies; Forced Expiratory Volume; Diabetes Mellitus	Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease.	Vasopressin regulates renal water homeostasis via Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0032439;endosome localization;IMP	GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0045179;apical cortex;IDA|GO:0055037;recycling endosome;IC|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO5B		https://hpo.jax.org/app/browse/search?q=MYO5B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606540	http://www.informatics.jax.org/searchtool/Search.do?query=MYO5B&submit=Quick%0D%11992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5B	rs1787519	0.676717	0	0	1	0	0	intronic	intronic	intronic	MYO5B	MYO5B	ENSG00000167306	Na	Na	Na	Na	Na	Na	Het;A>G	125;13|7	Hom;A>G	372;0|13
N	N	-	18	47480660	47480660	G	A	snp	intronic	 	 	 	 	MYO5B	Myo5b	ENSG00000167306	myosin VB	chr18:47349183-47721463	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Diabetic Nephropathies; Forced Expiratory Volume; Diabetes Mellitus	Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease.	Vasopressin regulates renal water homeostasis via Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0032439;endosome localization;IMP	GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0045179;apical cortex;IDA|GO:0055037;recycling endosome;IC|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO5B		https://hpo.jax.org/app/browse/search?q=MYO5B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606540	http://www.informatics.jax.org/searchtool/Search.do?query=MYO5B&submit=Quick%0D%11992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5B	rs1787299	0.503395	0.6271	0.5408	1	0	0	intronic	intronic	intronic	MYO5B	MYO5B	ENSG00000167306	Na	Na	Na	Na	Na	Na	Het;G>A	638;17|28	Hom;G>A	1109;0|44
N	N	-	18	47787402	47787402	G	A	snp	intronic	 	 	 	 	CFAP53	Cfap53																	rs1899671	0.669928	0.6368	0.6972	1	0	0	intronic	intronic	intronic	CFAP53	CCDC11	ENSG00000172361	Na	Na	Na	Na	Na	Na	Het;G>A	613;34|30	Hom;G>A	2290;0|85
N	N	-	18	47802458	47802458	C	A	snp	intronic	 	 	 	 	MBD1	Mbd1	ENSG00000141644	methyl-CpG binding domain protein 1	chr18:47793252-47808144	The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]	Chronic lymphocytic leukemia; lung cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; lung cancer 	Homozygous null exhibited defects in adult hippocampal neurogenesis and function. Spatial learning was also impaired in mutant mice.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007507;heart development;IEA|GO:0007568;aging;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0030182;neuron differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032355;response to estradiol;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0044030;regulation of DNA methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0048712;negative regulation of astrocyte differentiation;IEA	GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IEA	GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008327;methyl-CpG binding;IDA|GO:0010385;double-stranded methylated DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MBD1	https://www.uniprot.org/uniprot/Q9UIS9		https://www.ncbi.nlm.nih.gov/omim/?term=156535	http://www.informatics.jax.org/searchtool/Search.do?query=MBD1&submit=Quick%0D%8207ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD1	rs140687	0.657348	0	0	1	0	0	intronic	intronic	intronic	MBD1	MBD1	ENSG00000141644	Na	Na	Na	Na	Na	Na	Het;C>A	641;24|32	Hom;C>A	1248;0|46
N	N	-	18	47802971	47802971	A	G	snp	intronic	 	 	 	 	MBD1	Mbd1	ENSG00000141644	methyl-CpG binding domain protein 1	chr18:47793252-47808144	The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]	Chronic lymphocytic leukemia; lung cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; lung cancer 	Homozygous null exhibited defects in adult hippocampal neurogenesis and function. Spatial learning was also impaired in mutant mice.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007507;heart development;IEA|GO:0007568;aging;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0030182;neuron differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032355;response to estradiol;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0044030;regulation of DNA methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0048712;negative regulation of astrocyte differentiation;IEA	GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IEA	GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008327;methyl-CpG binding;IDA|GO:0010385;double-stranded methylated DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MBD1	https://www.uniprot.org/uniprot/Q9UIS9		https://www.ncbi.nlm.nih.gov/omim/?term=156535	http://www.informatics.jax.org/searchtool/Search.do?query=MBD1&submit=Quick%0D%8207ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD1	rs10775495	0.687101	0	0	1	0	0	intronic	intronic	intronic	MBD1	MBD1	ENSG00000141644	Na	Na	Na	Na	Na	Na	Het;A>G	268;5|10	Hom;A>G	268;0|10
N	N	-	18	47810351	47810351	A	G	snp	synonymous SNV	T1326C	T442T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CXXC1	Cxxc1	ENSG00000154832	CXXC finger protein 1	chr18:47808713-47814674	This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]	Leukemia, Lymphocytic, Chronic, B-Cell; Chronic lymphocytic leukemia	Mice homozygous for a knock-out allele exhibit peri-implantation lethality and failure to gastrulate.	XBP1(S) activates chaperone genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051568;histone H3-K4 methylation;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA	GO:0000987;core promoter proximal region sequence-specific DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0045322;unmethylated CpG binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CXXC1	https://www.uniprot.org/uniprot/Q9P0U4		https://www.ncbi.nlm.nih.gov/omim/?term=609150	http://www.informatics.jax.org/searchtool/Search.do?query=CXXC1&submit=Quick%0D%9813ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXXC1	rs7228084	0.714457	0.6863	0.7266	1	0	0	exonic	exonic	exonic	CXXC1	CXXC1	ENSG00000154832	synonymous SNV	synonymous SNV	unknown	CXXC1:NM_001101654:exon10:c.T1338C:p.T446T,CXXC1:NM_014593:exon10:c.T1326C:p.T442T,	CXXC1:uc002leq.4:exon10:c.T1326C:p.T442T,CXXC1:uc002lep.4:exon8:c.T897C:p.T299T,CXXC1:uc010doy.3:exon10:c.T1326C:p.T442T,CXXC1:uc002ler.4:exon10:c.T1338C:p.T446T,	UNKNOWN	Het;A>G	1761;83|74	Hom;A>G	4827;0|160
N	N	-	18	48326352	48326352	C	A	snp	intronic	 	 	 	 	MRO	Mro	ENSG00000134042	maestro	chr18:48324574-48351772	This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology.			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MRO	https://www.uniprot.org/uniprot/Q9BYG7		https://www.ncbi.nlm.nih.gov/omim/?term=608080	http://www.informatics.jax.org/searchtool/Search.do?query=MRO&submit=Quick%0D%6901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRO	rs12967343	0.140575	0	0	1	0	0	intronic	intronic	intronic	MRO	MRO	ENSG00000134042	Na	Na	Na	Na	Na	Na	Het;C>A	397;11|17	Hom;C>A	548;0|18
N	N	-	18	48326378	48326378	G	T	snp	intronic	 	 	 	 	MRO	Mro	ENSG00000134042	maestro	chr18:48324574-48351772	This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology.			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MRO	https://www.uniprot.org/uniprot/Q9BYG7		https://www.ncbi.nlm.nih.gov/omim/?term=608080	http://www.informatics.jax.org/searchtool/Search.do?query=MRO&submit=Quick%0D%6901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRO	rs2586778	0.439297	0.4406	0.5005	1	0	0	intronic	intronic	intronic	MRO	MRO	ENSG00000134042	Na	Na	Na	Na	Na	Na	Het;G>T	471;18|21	Hom;G>T	921;0|36
N	N	-	18	48327815	48327815	G	A	snp	synonymous SNV	C531T	A177A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MRO	Mro	ENSG00000134042	maestro	chr18:48324574-48351772	This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology.			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MRO	https://www.uniprot.org/uniprot/Q9BYG7		https://www.ncbi.nlm.nih.gov/omim/?term=608080	http://www.informatics.jax.org/searchtool/Search.do?query=MRO&submit=Quick%0D%6901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRO	rs2276186	0.429513	0.4330	0.4941	1	0	0	exonic	exonic	exonic	MRO	MRO	ENSG00000134042	synonymous SNV	synonymous SNV	unknown	MRO:NM_031939:exon6:c.C489T:p.A163A,MRO:NM_001127176:exon5:c.C531T:p.A177A,	MRO:uc010dpa.3:exon5:c.C531T:p.A177A,MRO:uc002lew.4:exon6:c.C489T:p.A163A,MRO:uc002lex.4:exon6:c.C489T:p.A163A,	UNKNOWN	Het;G>A	809;64|41	Hom;G>A	2052;0|74
N	N	-	18	48333203	48333203	C	G	snp	nonsynonymous SNV	G117C	R39S	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MRO	Mro	ENSG00000134042	maestro	chr18:48324574-48351772	This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology.			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MRO	https://www.uniprot.org/uniprot/Q9BYG7		https://www.ncbi.nlm.nih.gov/omim/?term=608080	http://www.informatics.jax.org/searchtool/Search.do?query=MRO&submit=Quick%0D%6901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRO	rs4940019	0.463059	0.4007	0.5139	0.23	3	13	exonic	exonic	exonic	MRO	MRO	ENSG00000134042	nonsynonymous SNV	nonsynonymous SNV	unknown	MRO:NM_001127174:exon3:c.G117C:p.R39S,MRO:NM_031939:exon4:c.G117C:p.R39S,MRO:NM_001127175:exon3:c.G159C:p.R53S,MRO:NM_001127176:exon3:c.G159C:p.R53S,	MRO:uc010dpa.3:exon3:c.G159C:p.R53S,MRO:uc002lew.4:exon4:c.G117C:p.R39S,MRO:uc002lex.4:exon4:c.G117C:p.R39S,MRO:uc010dpb.3:exon3:c.G159C:p.R53S,MRO:uc010xdn.2:exon3:c.G117C:p.R39S,MRO:uc010dpc.3:exon3:c.G117C:p.R39S,	UNKNOWN	Het;C>G	615;63|32	Hom;C>G	2285;0|84
N	N	-	18	48335773	48335773	A	G	snp	unknown	 	 	 	 	MRO	Mro	ENSG00000134042	maestro	chr18:48324574-48351772	This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology.			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MRO	https://www.uniprot.org/uniprot/Q9BYG7		https://www.ncbi.nlm.nih.gov/omim/?term=608080	http://www.informatics.jax.org/searchtool/Search.do?query=MRO&submit=Quick%0D%6901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRO	rs79313911	0.0489217	0.0598	0.0731	1	0	0	UTR5	UTR5	exonic	MRO(NM_031939:c.-3T>C,NM_001127174:c.-3T>C)	MRO(uc010xdn.2:c.-3T>C,uc002lew.4:c.-3T>C,uc010dpc.3:c.-3T>C,uc002lex.4:c.-3T>C)	ENSG00000134042	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	872;57|41	Hom;A>G	2847;0|105
N	N	-	18	52893504	52893505	AT	A	indel	UTR3	*1762_*1761delinsT	 	 	 	TCF4	Tcf4	ENSG00000196628	transcription factor 4	chr18:52889562-53332018	This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]	Fuchs' Endothelial Dystrophy; Schizophrenia; Fuchs Endothelial Dystrophy; schizophrenia; Tobacco Use Disorder; Survival; depression; Bone Mineral Density	Homozygotes for a null allele show a partial block in early thymopoiesis, increased double-negative T cell count, and increased sensitivity to anti-CD3 induced apoptosis. Homozygotes for another null allele show neonatal or postnatal lethality, reduced pro-B cell number, and abnormal pontine nuclei.	CDO in myogenesis	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;ISS|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;ISS|GO:0007399;nervous system development;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0016525;negative regulation of angiogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042118;endothelial cell activation;IEA|GO:0045666;positive regulation of neuron differentiation;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0065004;protein-DNA complex assembly;ISS|GO:1900746;regulation of vascular endothelial growth factor signaling pathway;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;ISS|GO:0032993;protein-DNA complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;ISS|GO:0001011;transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting;ISS|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001087;transcription factor activity, TFIIB-class binding;ISS|GO:0001093;TFIIB-class transcription factor binding;ISS|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0043425;bHLH transcription factor binding;IBA|GO:0043621;protein self-association;IEA|GO:0046982;protein heterodimerization activity;IBA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TCF4		https://hpo.jax.org/app/browse/search?q=TCF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602272	http://www.informatics.jax.org/searchtool/Search.do?query=TCF4&submit=Quick%0D%16422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF4	rs71674214	0.346046	0	0	1	0	0	UTR3	UTR3	UTR3	TCF4(NM_001083962:c.*1762_*1761delinsT,NM_003199:c.*1762_*1761delinsT,NM_001243232:c.*1762_*1761delinsT,NM_001243230:c.*1762_*1761delinsT,NM_001243231:c.*1762_*1761delinsT,NM_001243235:c.*1762_*1761delinsT,NM_001243234:c.*1762_*1761delinsT,NM_001243226:c.*1762_*1761delinsT,NM_001243228:c.*1762_*1761delinsT,NM_001243233:c.*1762_*1761delinsT,NM_001243227:c.*1762_*1761delinsT,NM_001243236:c.*1762_*1761delinsT)	TCF4(uc021ukg.1:c.*1762_*1761delinsT,uc021ukh.1:c.*1762_*1761delinsT,uc002lfw.4:c.*1762_*1761delinsT,uc010xdu.1:c.*1762_*1761delinsT,uc010xdv.1:c.*1762_*1761delinsT,uc021uki.1:c.*1762_*1761delinsT,uc002lfx.2:c.*1762_*1761delinsT,uc010xdw.1:c.*1762_*1761delinsT,uc002lfy.2:c.*1762_*1761delinsT,uc010xdx.1:c.*1762_*1761delinsT,uc021ukj.1:c.*1762_*1761delinsT,uc021ukk.1:c.*1762_*1761delinsT,uc002lfz.2:c.*1762_*1761delinsT,uc010dph.1:c.*1762_*1761delinsT,uc021ukl.1:c.*1762_*1761delinsT,uc010dpi.3:c.*1762_*1761delinsT,uc010xdy.1:c.*1762_*1761delinsT,uc002lga.3:c.*1762_*1761delinsT)	ENSG00000196628(ENST00000354452:c.*1762_*1761delinsT,ENST00000356073:c.*1762_*1761delinsT)	Na	Na	Na	Na	Na	Na	Het;-T	468;43|31	Hom;-T	1535;9|76
N	N	-	18	52895531	52895531	T	C	snp	synonymous SNV	A1449G	S483S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TCF4	Tcf4	ENSG00000196628	transcription factor 4	chr18:52889562-53332018	This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]	Fuchs' Endothelial Dystrophy; Schizophrenia; Fuchs Endothelial Dystrophy; schizophrenia; Tobacco Use Disorder; Survival; depression; Bone Mineral Density	Homozygotes for a null allele show a partial block in early thymopoiesis, increased double-negative T cell count, and increased sensitivity to anti-CD3 induced apoptosis. Homozygotes for another null allele show neonatal or postnatal lethality, reduced pro-B cell number, and abnormal pontine nuclei.	CDO in myogenesis	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;ISS|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;ISS|GO:0007399;nervous system development;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0016525;negative regulation of angiogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042118;endothelial cell activation;IEA|GO:0045666;positive regulation of neuron differentiation;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0065004;protein-DNA complex assembly;ISS|GO:1900746;regulation of vascular endothelial growth factor signaling pathway;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;ISS|GO:0032993;protein-DNA complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;ISS|GO:0001011;transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting;ISS|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001087;transcription factor activity, TFIIB-class binding;ISS|GO:0001093;TFIIB-class transcription factor binding;ISS|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0043425;bHLH transcription factor binding;IBA|GO:0043621;protein self-association;IEA|GO:0046982;protein heterodimerization activity;IBA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TCF4		https://hpo.jax.org/app/browse/search?q=TCF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602272	http://www.informatics.jax.org/searchtool/Search.do?query=TCF4&submit=Quick%0D%16422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF4	rs8766	0.342452	0.3647	0.3714	1	0	0	exonic	exonic	exonic	TCF4	TCF4	ENSG00000196628	synonymous SNV	synonymous SNV	unknown	TCF4:NM_001243227:exon18:c.A1869G:p.S623S,TCF4:NM_001243236:exon12:c.A1449G:p.S483S,TCF4:NM_001243234:exon12:c.A1461G:p.S487S,TCF4:NM_003199:exon19:c.A1929G:p.S643S,TCF4:NM_001243233:exon15:c.A1539G:p.S513S,TCF4:NM_001243231:exon17:c.A1803G:p.S601S,TCF4:NM_001083962:exon19:c.A1941G:p.S647S,TCF4:NM_001243235:exon12:c.A1449G:p.S483S,TCF4:NM_001243230:exon18:c.A1920G:p.S640S,TCF4:NM_001243228:exon19:c.A1959G:p.S653S,TCF4:NM_001243226:exon20:c.A2247G:p.S749S,TCF4:NM_001243232:exon15:c.A1728G:p.S576S,	TCF4:uc021ukg.1:exon12:c.A1449G:p.S483S,TCF4:uc002lfz.2:exon19:c.A1929G:p.S643S,TCF4:uc010dpi.3:exon19:c.A1959G:p.S653S,TCF4:uc010xdv.1:exon14:c.A1539G:p.S513S,TCF4:uc021ukl.1:exon18:c.A1920G:p.S640S,TCF4:uc010xdu.1:exon14:c.A1539G:p.S513S,TCF4:uc002lfy.2:exon17:c.A1803G:p.S601S,TCF4:uc021ukj.1:exon16:c.A1749G:p.S583S,TCF4:uc010xdx.1:exon18:c.A1857G:p.S619S,TCF4:uc002lfw.4:exon12:c.A1461G:p.S487S,TCF4:uc021ukk.1:exon16:c.A1761G:p.S587S,TCF4:uc010xdy.1:exon18:c.A1869G:p.S623S,TCF4:uc010xdw.1:exon15:c.A1539G:p.S513S,TCF4:uc021ukh.1:exon12:c.A1449G:p.S483S,TCF4:uc010dph.1:exon19:c.A1941G:p.S647S,TCF4:uc002lfx.2:exon15:c.A1728G:p.S576S,TCF4:uc002lga.3:exon20:c.A2247G:p.S749S,TCF4:uc021uki.1:exon15:c.A1716G:p.S572S,	UNKNOWN	Het;T>C	1482;71|70	Hom;T>C	4024;1|147
N	N	-	18	53131488	53131488	C	A	snp	ncRNA_intronic	 	 	 	 	TCF4-AS1																		rs3760600	0.545128	0	0	1	0	0	intronic	intronic	ncRNA_intronic	TCF4	TCF4	ENSG00000267028	Na	Na	Na	Na	Na	Na	Het;C>A	32;4|2	Hom;C>A	163;0|5
N	N	-	18	56090801	56090801	G	GT	indel	intergenic	 	 	 	 	AC105105.3																		rs11456266	0.721645	0	0	1	0	0	intergenic	intergenic	intergenic	NEDD4L(dist=22029),MIR122(dist=27505)	NEDD4L(dist=22029),MIR122(dist=27505)	ENSG00000267675(dist=5941),ENSG00000267391(dist=22706)	Na	Na	Na	Na	Na	Na	Het;+T	136;10|10	Hom;+T	245;1|12
N	N	-	18	56703194	56703194	A	C	snp	ncRNA_intronic	 	 	 	 	OACYLP																		rs9961940	0.852236	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	OACYLP	OACYLP	ENSG00000224367	Na	Na	Na	Na	Na	Na	Het;A>C	43;3|3	Hom;A>C	137;0|5
N	N	-	18	56711225	56711225	A	C	snp	ncRNA_intronic	 	 	 	 	OACYLP																		rs11152115	0.826877	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	OACYLP	OACYLP	ENSG00000224367	Na	Na	Na	Na	Na	Na	Het;A>C	467;17|15	Hom;A>C	870;0|24
N	N	-	18	56711284	56711284	C	T	snp	ncRNA_intronic	 	 	 	 	OACYLP																		rs11152116	0.827476	0	0.8286	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	OACYLP	OACYLP	ENSG00000224367	Na	Na	Na	Na	Na	Na	Het;C>T	1129;53|51	Hom;C>T	2356;0|86
N	N	-	18	57115203	57115203	T	C	snp	intronic	 	 	 	 	CCBE1	Ccbe1	ENSG00000183287	collagen and calcium binding EGF domains 1	chr18:57098172-57364612	This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]	Alcoholism; Apolipoproteins B; Arteries; Insulin; Body Mass Index; Cell Adhesion Molecules; Tobacco Use Disorder; Cholesterol; Blood Pressure Determination; Rheumatoid Arthritis	Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels.		GO:0001525;angiogenesis;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;ISS|GO:0003016;respiratory system process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010595;positive regulation of endothelial cell migration;IEA|GO:0010954;positive regulation of protein processing;IDA|GO:0030324;lung development;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0048845;venous blood vessel morphogenesis;ISS|GO:1900748;positive regulation of vascular endothelial growth factor signaling pathway;IDA|GO:1901492;positive regulation of lymphangiogenesis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA	GO:0002020;protease binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CCBE1		https://hpo.jax.org/app/browse/search?q=CCBE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612753	http://www.informatics.jax.org/searchtool/Search.do?query=CCBE1&submit=Quick%0D%14957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCBE1	rs1893788	0.540935	0.6105	0.5311	1	0	0	intronic	intronic	intronic	CCBE1	CCBE1	ENSG00000183287	Na	Na	Na	Na	Na	Na	Het;T>C	474;28|21	Hom;T>C	1259;1|49
N	N	-	18	57596410	57596410	A	C	snp	upstream	 	 	 	 	AC107990.1																		rs28688194	0.788139	0	0	1	0	0	intergenic	intergenic	upstream	PMAIP1(dist=24872),MC4R(dist=442154)	PMAIP1(dist=24872),U6(dist=89447)	ENSG00000267066	Na	Na	Na	Na	Na	Na	Het;A>C	163;14|9	Hom;A>C	545;0|20
N	N	-	18	58167643	58167643	C	CCTAT	indel	intergenic	 	 	 	 	AC010928.2																		rs147196458	0	0	0	1	0	0	intergenic	intergenic	intergenic	MC4R(dist=127642),CDH20(dist=990132)	MC4R(dist=127642),CDH20(dist=833345)	ENSG00000267400(dist=4074),ENSG00000266915(dist=19431)	Na	Na	Na	Na	Na	Na	Het;+CTAT	293;2|8	Hom;+CTAT	188;0|5
N	N	-	18	59174817	59174817	C	A	snp	intronic	 	 	 	 	CDH20	Cdh20	ENSG00000101542	cadherin 20	chr18:59000815-59223006	This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Glucose; diabetic nephropathy	 		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH20	https://www.uniprot.org/uniprot/Q9HBT6		https://www.ncbi.nlm.nih.gov/omim/?term=605807	http://www.informatics.jax.org/searchtool/Search.do?query=CDH20&submit=Quick%0D%2757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH20	rs1547956	0.71865	0.7310	0.7786	1	0	0	intronic	intronic	intronic	CDH20	CDH20	ENSG00000101542	Na	Na	Na	Na	Na	Na	Het;C>A	733;41|35	Hom;C>A	2220;0|86
N	N	-	18	59206480	59206480	C	T	snp	intronic	 	 	 	 	CDH20	Cdh20	ENSG00000101542	cadherin 20	chr18:59000815-59223006	This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Glucose; diabetic nephropathy	 		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH20	https://www.uniprot.org/uniprot/Q9HBT6		https://www.ncbi.nlm.nih.gov/omim/?term=605807	http://www.informatics.jax.org/searchtool/Search.do?query=CDH20&submit=Quick%0D%2757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH20	rs11875000	0.364217	0	0	1	0	0	intronic	intronic	intronic	CDH20	CDH20	ENSG00000101542	Na	Na	Na	Na	Na	Na	Het;C>T	187;9|9	Hom;C>T	1018;0|37
N	N	-	18	59947118	59947118	G	A	snp	intronic	 	 	 	 	KIAA1468	2310035C23Rik	ENSG00000134444	KIAA1468	chr18:59854491-59974355		Cholesterol, LDL; Tobacco Use Disorder; Heart Failure	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1468	https://www.uniprot.org/uniprot/Q9P260			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1468&submit=Quick%0D%6979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1468	rs2980981	0.705471	0	0.6859	1	0	0	intronic	intronic	intronic	KIAA1468	KIAA1468	ENSG00000134444	Na	Na	Na	Na	Na	Na	Het;G>A	530;19|23	Hom;G>A	1057;0|40
N	N	-	18	60021504	60021504	T	G	snp	intronic	 	 	 	 	TNFRSF11A	Tnfrsf11a	ENSG00000141655	TNF receptor superfamily member 11a	chr18:59992520-60058516	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]	periodontitis; Bone Mineral Density; Leukemia, Lymphocytic, Chronic, B-Cell; Paget's disease; obesity|Bone Mineral Density; null; Bone Density; arthroplasty failure; obesity; Alzheimer's disease ; height; Osteoporosis; bone density; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bone mineral density (spine); Arthritis, Rheumatoid|Rheumatoid Arthritis; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Fractures, Bone; Fractures, Bone|Wounds and Injuries; Osteitis Deformans	Mice homozygous for a knock-out or spontaneous allele exhibit a failure of tooth eruption, osteopetrosis, and abnormal immune system morphology.	TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway	GO:0001503;ossification;IEA|GO:0002250;adaptive immune response;IMP|GO:0002548;monocyte chemotaxis;NAS|GO:0006954;inflammatory response;IBA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0009314;response to radiation;IEA|GO:0030316;osteoclast differentiation;IMP|GO:0032496;response to lipopolysaccharide;ISS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0034097;response to cytokine;IMP|GO:0034612;response to tumor necrosis factor;ISS|GO:0042981;regulation of apoptotic process;IBA|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0048535;lymph node development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0060086;circadian temperature homeostasis;ISS|GO:0060749;mammary gland alveolus development;IEA|GO:0070555;response to interleukin-1;ISS|GO:0071812;positive regulation of fever generation by positive regulation of prostaglandin secretion;ISS|GO:0071847;TNFSF11-mediated signaling pathway;IMP|GO:0071848;positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling;IMP|GO:0097190;apoptotic signaling pathway;IBA	GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005031;tumor necrosis factor-activated receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0019955;cytokine binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF11A	https://www.uniprot.org/uniprot/Q9Y6Q6	https://hpo.jax.org/app/browse/search?q=TNFRSF11A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603499	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF11A&submit=Quick%0D%8209ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF11A	rs3826620	0.650958	0	0	1	0	0	intronic	intronic	intronic	TNFRSF11A	TNFRSF11A	ENSG00000141655	Na	Na	Na	Na	Na	Na	Het;T>G	223;3|8	Hom;T>G	163;0|6
N	N	-	18	60612536	60612536	T	G	snp	intronic	 	 	 	 	PHLPP1	Phlpp1	ENSG00000081913	PH domain and leucine rich repeat protein phosphatase 1	chr18:60382672-60647666	This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]	Narcolepsy; diabetic nephropathy; Blood Pressure Determination; Tobacco Use Disorder; Stroke	Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting.	Negative regulation of the PI3K/AKT network	GO:0002667;regulation of T cell anergy;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0009649;entrainment of circadian clock;IEA|GO:0042981;regulation of apoptotic process;IDA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IDA|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0090036;regulation of protein kinase C signaling;IBA|GO:1900744;regulation of p38MAPK cascade;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IBA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IBA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHLPP1	https://www.uniprot.org/uniprot/O60346		https://www.ncbi.nlm.nih.gov/omim/?term=609396	http://www.informatics.jax.org/searchtool/Search.do?query=PHLPP1&submit=Quick%0D%1785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLPP1	rs525092	0.496605	0.3874	0.4450	1	0	0	intronic	intronic	intronic	PHLPP1	PHLPP1	ENSG00000081913	Na	Na	Na	Na	Na	Na	Het;T>G	1053;45|48	Hom;T>G	2659;0|94
N	N	-	18	60630531	60630531	T	C	snp	intronic	 	 	 	 	PHLPP1	Phlpp1	ENSG00000081913	PH domain and leucine rich repeat protein phosphatase 1	chr18:60382672-60647666	This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]	Narcolepsy; diabetic nephropathy; Blood Pressure Determination; Tobacco Use Disorder; Stroke	Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting.	Negative regulation of the PI3K/AKT network	GO:0002667;regulation of T cell anergy;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0009649;entrainment of circadian clock;IEA|GO:0042981;regulation of apoptotic process;IDA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IDA|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0090036;regulation of protein kinase C signaling;IBA|GO:1900744;regulation of p38MAPK cascade;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IBA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IBA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHLPP1	https://www.uniprot.org/uniprot/O60346		https://www.ncbi.nlm.nih.gov/omim/?term=609396	http://www.informatics.jax.org/searchtool/Search.do?query=PHLPP1&submit=Quick%0D%1785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLPP1	rs547690	0.60603	0	0	1	0	0	intronic	intronic	intronic	PHLPP1	PHLPP1	ENSG00000081913	Na	Na	Na	Na	Na	Na	Het;T>C	151;8|7	Hom;T>C	456;0|15
N	N	-	18	613020	613020	G	T	snp	intronic	 	 	 	 	CLUL1	 	ENSG00000079101	clusterin like 1	chr18:596988-650334		Tobacco Use Disorder; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone	 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CLUL1	https://www.uniprot.org/uniprot/Q15846		https://www.ncbi.nlm.nih.gov/omim/?term=616990	http://www.informatics.jax.org/searchtool/Search.do?query=CLUL1&submit=Quick%0D%1683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLUL1	rs2219281	0.587859	0	0	1	0	0	intronic	intronic	intronic	CLUL1	CLUL1	ENSG00000079101	Na	Na	Na	Na	Na	Na	Het;G>T	97;6|5	Hom;G>T	510;0|19
N	N	-	18	61465810	61465810	A	G	snp	intronic	 	 	 	 	SERPINB7	Serpinb7	ENSG00000166396	serpin family B member 7	chr18:61420169-61472604	This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Glomerulonephritis, IGA|Kidney Failure, Chronic; Glomerulonephritis, IGA; Diabetes Mellitus; Lipoproteins; nephropathy, IgA; ovarian cancer; null	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0032914;positive regulation of transforming growth factor beta1 production;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0072126;positive regulation of glomerular mesangial cell proliferation;IEA|GO:0090362;positive regulation of platelet-derived growth factor production;IEA	GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINB7		https://hpo.jax.org/app/browse/search?q=SERPINB7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603357	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB7&submit=Quick%0D%11778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB7	rs1720858	0.653155	0.5906	0.5836	1	0	0	intronic	intronic	intronic	SERPINB7	SERPINB7	ENSG00000166396	Na	Na	Na	Na	Na	Na	Het;A>G	459;24|23	Hom;A>G	1151;0|41
N	N	-	18	61468306	61468306	G	C	snp	intronic	 	 	 	 	SERPINB7	Serpinb7	ENSG00000166396	serpin family B member 7	chr18:61420169-61472604	This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Glomerulonephritis, IGA|Kidney Failure, Chronic; Glomerulonephritis, IGA; Diabetes Mellitus; Lipoproteins; nephropathy, IgA; ovarian cancer; null	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0032914;positive regulation of transforming growth factor beta1 production;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0072126;positive regulation of glomerular mesangial cell proliferation;IEA|GO:0090362;positive regulation of platelet-derived growth factor production;IEA	GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINB7		https://hpo.jax.org/app/browse/search?q=SERPINB7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603357	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB7&submit=Quick%0D%11778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB7	rs2689399	0.665535	0	0	1	0	0	intronic	intronic	intronic	SERPINB7	SERPINB7	ENSG00000166396	Na	Na	Na	Na	Na	Na	Het;G>C	806;32|36	Hom;G>C	1325;0|41
N	N	-	18	61471523	61471523	G	A	snp	nonsynonymous SNV	G797A	R266Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	SERPINB7	Serpinb7	ENSG00000166396	serpin family B member 7	chr18:61420169-61472604	This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Glomerulonephritis, IGA|Kidney Failure, Chronic; Glomerulonephritis, IGA; Diabetes Mellitus; Lipoproteins; nephropathy, IgA; ovarian cancer; null	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0032914;positive regulation of transforming growth factor beta1 production;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0072126;positive regulation of glomerular mesangial cell proliferation;IEA|GO:0090362;positive regulation of platelet-derived growth factor production;IEA	GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINB7		https://hpo.jax.org/app/browse/search?q=SERPINB7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603357	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB7&submit=Quick%0D%11778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB7	rs17782413	0.157947	0.1931	0.2127	0.23	3	13	exonic	exonic	exonic	SERPINB7	SERPINB7	ENSG00000166396	nonsynonymous SNV	nonsynonymous SNV	unknown	SERPINB7:NM_001261830:exon8:c.G797A:p.R266Q,SERPINB7:NM_001040147:exon8:c.G797A:p.R266Q,SERPINB7:NM_003784:exon8:c.G797A:p.R266Q,SERPINB7:NM_001261831:exon7:c.G746A:p.R249Q,	SERPINB7:uc010xet.3:exon7:c.G746A:p.R249Q,SERPINB7:uc010dqg.4:exon8:c.G797A:p.R266Q,SERPINB7:uc002ljm.4:exon8:c.G797A:p.R266Q,SERPINB7:uc002ljl.4:exon8:c.G797A:p.R266Q,	UNKNOWN	Het;G>A	897;31|41	Hom;G>A	1427;1|53
N	N	-	18	61654463	61654463	A	G	snp	nonsynonymous SNV	A1076G	H359R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SERPINB8	Serpinb8	ENSG00000166401	serpin family B member 8	chr18:61637159-61672278	The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by well-conserved a tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-8 (PI8; SERPINB8) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010]	Coronary Disease|Coronary heart disease|Myocardial Infarction; Tobacco Use Disorder; Albumins; Psoriasis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke	 	Dissolution of Fibrin Clot	GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IDA|GO:0090136;epithelial cell-cell adhesion;IMP	GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINB8		https://hpo.jax.org/app/browse/search?q=SERPINB8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601697	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB8&submit=Quick%0D%11780ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB8	rs3826616	0.548522	0.5277	0.5834	0.77	10	13	exonic	exonic	exonic	SERPINB8	SERPINB8	ENSG00000166401	nonsynonymous SNV	nonsynonymous SNV	unknown	SERPINB8:NM_198833:exon7:c.A1076G:p.H359R,SERPINB8:NM_001276490:exon6:c.A530G:p.H177R,SERPINB8:NM_002640:exon7:c.A1076G:p.H359R,	SERPINB8:uc010xex.2:exon6:c.A530G:p.H177R,SERPINB8:uc002ljv.3:exon7:c.A1076G:p.H359R,SERPINB8:uc002lju.3:exon7:c.A1076G:p.H359R,	UNKNOWN	Het;A>G	1357;91|69	Hom;A>G	3705;0|136
N	N	-	18	62090888	62090892	CTGTT	C	indel	downstream	 	 	 	 	LINC01924																		rs75027684	0.446486	0	0	1	0	0	downstream	downstream	downstream	LOC284294	LOC284294	ENSG00000267134	Na	Na	Na	Na	Na	Na	Het;-TGTT	725;26|20	Hom;-TGTT	1788;0|41
N	N	-	18	63530016	63530016	A	G	snp	nonsynonymous SNV	A1727G	N576S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CDH7	Cdh7	ENSG00000081138	cadherin 7	chr18:63417488-63548638	This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]	Body Height; Uric Acid; Cholesterol, HDL; Arteries; Triglycerides; Vitamin D; Tobacco Use Disorder; Pulse	 	Adherens junctions interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH7	https://www.uniprot.org/uniprot/Q9ULB5		https://www.ncbi.nlm.nih.gov/omim/?term=605806	http://www.informatics.jax.org/searchtool/Search.do?query=CDH7&submit=Quick%0D%1760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH7	rs2291343	0.629593	0.5895	0.7023	0.38	5	13	exonic	exonic	exonic	CDH7	CDH7	ENSG00000081138	nonsynonymous SNV	nonsynonymous SNV	unknown	CDH7:NM_004361:exon11:c.A1727G:p.N576S,CDH7:NM_033646:exon11:c.A1727G:p.N576S,	CDH7:uc002lka.3:exon11:c.A1727G:p.N576S,CDH7:uc002lkb.3:exon11:c.A1727G:p.N576S,CDH7:uc002ljz.3:exon11:c.A1727G:p.N576S,	UNKNOWN	Het;A>G	2431;113|110	Hom;A>G	6087;1|219
N	N	-	18	63698054	63698054	C	T	snp	intergenic	 	 	 	 	AC023394.1																		rs2541765	0.447684	0	0	1	0	0	intergenic	intergenic	intergenic	CDH7(dist=149879),CDH19(dist=470370)	CDH7(dist=149879),CDH19(dist=470370)	ENSG00000263622(dist=109876),ENSG00000264685(dist=37932)	Na	Na	Na	Na	Na	Na	Het;C>T	42;2|3	Hom;C>T	166;0|5
N	N	-	18	63736374	63736374	A	G	snp	ncRNA_exonic	 	 	 	 	PRPF19P1																		rs2706618	0.748003	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CDH7(dist=188199),CDH19(dist=432050)	CDH7(dist=188199),CDH19(dist=432050)	ENSG00000264685	Na	Na	Na	Na	Na	Na	Het;A>G	143;1|8	Hom;A>G	296;0|12
N	N	-	18	63736448	63736448	A	G	snp	ncRNA_exonic	 	 	 	 	PRPF19P1																		rs2541794	0.748203	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CDH7(dist=188273),CDH19(dist=431976)	CDH7(dist=188273),CDH19(dist=431976)	ENSG00000264685	Na	Na	Na	Na	Na	Na	Het;A>G	56;1|4	Hom;A>G	291;0|11
N	N	-	18	65866698	65866699	TA	T	indel	intergenic	 	 	 	 	AC068112.1																		rs398079584	0.252196	0	0	1	0	0	intergenic	intergenic	intergenic	LOC643542(dist=299842),TMX3(dist=474226)	LOC643542(dist=299842),TMX3(dist=474226)	ENSG00000264869(dist=85084),ENSG00000264699(dist=58877)	Na	Na	Na	Na	Na	Na	Het;-A	48;4|3	Hom;-A	177;0|6
N	N	-	18	66821369	66821369	G	A	snp	intergenic	 	 	 	 	CCDC102B	 	ENSG00000150636	coiled-coil domain containing 102B	chr18:66382446-66722426		Triglycerides; Cholesterol, HDL; Body Mass Index; Erythrocyte Indices; Tobacco Use Disorder; Lipoproteins, VLDL; Lipids; Cholesterol, LDL	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC102B	https://www.uniprot.org/uniprot/Q68D86			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC102B&submit=Quick%0D%9335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC102B	rs5011110	0.740016	0	0	1	0	0	intergenic	intergenic	intergenic	CCDC102B(dist=98943),DOK6(dist=246915)	CCDC102B(dist=98943),DOK6(dist=246915)	ENSG00000150636(dist=98943),ENSG00000264705(dist=58145)	Na	Na	Na	Na	Na	Na	Het;G>A	346;13|18	Hom;G>A	1306;0|51
N	N	-	18	67068605	67068606	TG	T	indel	intronic	 	 	 	 	DOK6	Dok6	ENSG00000206052	docking protein 6	chr18:67068291-67516323	DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]	Echocardiography; Osteoporosis; Arteries; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder; Platelet Count; Mental Competency; Cholesterol	 	RET signaling	GO:0007411;axon guidance;TAS	GO:0005829;cytosol;TAS	GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOK6			https://www.ncbi.nlm.nih.gov/omim/?term=611402	http://www.informatics.jax.org/searchtool/Search.do?query=DOK6&submit=Quick%0D%17596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK6	rs33984456	0.411542	0	0	1	0	0	intronic	intronic	intronic	DOK6	DOK6	ENSG00000206052	Na	Na	Na	Na	Na	Na	Het;-G	223;16|12	Hom;-G	336;0|13
N	N	-	18	67614674	67614674	T	TA	indel	UTR5	-32A>TA	 	 	 	CD226	Cd226	ENSG00000150637	CD226 molecule	chr18:67498394-67629039	This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	diabetes, type 1 ; Churg-Strauss Syndrome|Multiple Sclerosis|Wegener Granulomatosis; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|; Diabetes Mellitus, Type 1|Multiple Sclerosis; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; Tobacco Use Disorder; Autoimmune Diseases; Diabetes Mellitus, Type 1; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Autoimmune Diseases|Diabetes Mellitus, Type 1|Multiple Sclerosis; prostate cancer; Arthritis, Rheumatoid|Rheumatoid Arthritis; mean platelet volume; Psoriasis; diabetic nephropathy; multiple sclerosis; type 1 diabetes	Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and increased incidence of tumor formation and mortality.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0001816;cytokine production;IEA|GO:0002729;positive regulation of natural killer cell cytokine production;IEA|GO:0002860;positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target;IMP|GO:0002891;positive regulation of immunoglobulin mediated immune response;IDA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0007165;signal transduction;TAS|GO:0008037;cell recognition;TAS|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0033005;positive regulation of mast cell activation;IDA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0050776;regulation of immune response;TAS|GO:0060369;positive regulation of Fc receptor mediated stimulatory signaling pathway;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IBA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045121;membrane raft;TAS	GO:0004872;receptor activity;IBA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CD226	https://www.uniprot.org/uniprot/Q15762		https://www.ncbi.nlm.nih.gov/omim/?term=605397	http://www.informatics.jax.org/searchtool/Search.do?query=CD226&submit=Quick%0D%9336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD226	rs3214811	0.60643	0.6202	0.7188	1	0	0	UTR5	UTR5	UTR5	CD226(NM_001303618:c.-32A>TA)	CD226(uc010dqo.3:c.-32A>TA)	ENSG00000150637(ENST00000582621:c.-32A>TA,ENST00000579496:c.-32A>TA,ENST00000583955:c.-32A>TA,ENST00000580335:c.-32A>TA)	Na	Na	Na	Na	Na	Na	Het;+A	889;11|42	Hom;+A	1345;5|60
N	N	-	18	68309730	68309730	G	A	snp	intronic	 	 	 	 	GTSCR1																		rs1912379	0.60004	0	0	1	0	0	intronic	intergenic	intronic	GTSCR1	Metazoa_SRP(dist=129486),LOC100505776(dist=877470)	ENSG00000263417	Na	Na	Na	Na	Na	Na	Het;G>A	295;10|14	Hom;G>A	180;0|7
N	N	-	18	6890434	6890434	A	G	snp	synonymous SNV	A1236G	P412P	hydrophobic,neutral	hydrophobic,neutral	ARHGAP28	Arhgap28	ENSG00000088756	Rho GTPase activating protein 28	chr18:6729717-6915715		Cholesterol, LDL; Death, Sudden, Cardiac; Coronary Artery Disease	Mice homozygous for a knock-out allele exhibit normal bone length and ossification.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051497;negative regulation of stress fiber assembly;IEA|GO:1904425;negative regulation of GTP binding;IEA	GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP28	https://www.uniprot.org/uniprot/Q9P2N2		https://www.ncbi.nlm.nih.gov/omim/?term=610592	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP28&submit=Quick%0D%2009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP28	rs1116757	0.563099	0.5660	0.5692	1	0	0	exonic	exonic	exonic	ARHGAP28	ARHGAP28	ENSG00000088756	synonymous SNV	synonymous SNV	unknown	ARHGAP28:NM_001010000:exon13:c.A1263G:p.P421P,	ARHGAP28:uc002knf.3:exon12:c.A1236G:p.P412P,ARHGAP28:uc002kne.3:exon13:c.A1263G:p.P421P,ARHGAP28:uc010wzi.2:exon13:c.A1209G:p.P403P,ARHGAP28:uc002knc.3:exon14:c.A1584G:p.P528P,	UNKNOWN	Het;A>G	699;50|36	Hom;A>G	1622;0|63
N	N	-	18	6890591	6890591	C	T	snp	intronic	 	 	 	 	ARHGAP28	Arhgap28	ENSG00000088756	Rho GTPase activating protein 28	chr18:6729717-6915715		Cholesterol, LDL; Death, Sudden, Cardiac; Coronary Artery Disease	Mice homozygous for a knock-out allele exhibit normal bone length and ossification.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051497;negative regulation of stress fiber assembly;IEA|GO:1904425;negative regulation of GTP binding;IEA	GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP28	https://www.uniprot.org/uniprot/Q9P2N2		https://www.ncbi.nlm.nih.gov/omim/?term=610592	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP28&submit=Quick%0D%2009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP28	rs1116756	0.562101	0.5656	0.5671	1	0	0	intronic	intronic	intronic	ARHGAP28	ARHGAP28	ENSG00000088756	Na	Na	Na	Na	Na	Na	Het;C>T	673;27|32	Hom;C>T	1343;0|52
N	N	-	18	69187333	69187333	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01541																		rs604903	0.779952	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;C>T	230;23|14	Hom;C>T	1562;0|56
N	N	-	18	69187612	69187612	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01541																		rs687367	0.780152	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;A>C	1457;78|68	Hom;A>C	4646;0|174
N	N	-	18	69187761	69187761	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01541																		rs687862	0.780351	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;A>C	1173;55|55	Hom;A>C	3137;0|110
N	N	-	18	69187943	69187943	A	AT	indel	ncRNA_exonic	 	 	 	 	LINC01541																		rs397941433	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;+T	1131;42|48	Hom;+T	3259;0|108
N	N	-	18	69187998	69187998	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01541																		rs591385	0.769169	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;C>T	1385;65|68	Hom;C>T	3570;0|129
N	N	-	18	69188017	69188017	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01541																		rs591364	0.783546	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;G>A	1356;65|65	Hom;G>A	3542;0|131
N	N	-	18	69189262	69189262	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01541																		rs597129	0.665136	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;G>A	245;61|19	Hom;G>A	1639;0|59
N	N	-	18	69189893	69189893	C	CAATT	indel	ncRNA_exonic	 	 	 	 	LINC01541																		rs34531593	0.762979	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01541	LOC100505776	ENSG00000260676	Na	Na	Na	Na	Na	Na	Het;+AATT	1380;30|38	Hom;+AATT	1889;0|44
N	N	-	18	6955676	6955676	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101927188																		rs949215	0.223442	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LOC101927188	LAMA1(uc002knk.3:c.-128C>A)	ENSG00000265069	Na	Na	Na	Na	Na	Na	Het;G>T	1496;75|69	Hom;G>T	3536;2|126
N	N	-	18	6956393	6956393	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927188																		rs11875257	0.261981	0	0.3494	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LOC101927188	LAMA1(uc002knk.3:c.-845A>G)	ENSG00000265069	Na	Na	Na	Na	Na	Na	Het;T>C	1322;95|68	Hom;T>C	5078;2|185
N	N	-	18	70416367	70416367	C	CA	indel	intronic	 	 	 	 	NETO1	Neto1	ENSG00000166342	neuropilin and tolloid like 1	chr18:70409549-70535381	This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit depressed long term potentiation, reduced NMDAR excitatory postsynaptic potentiation, and decreased spartial learning and working memory.		GO:0007613;memory;ISS|GO:0008542;visual learning;ISS|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;ISS|GO:0097120;receptor localization to synapse;IEA|GO:2000312;regulation of kainate selective glutamate receptor activity;IDA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;ISS|GO:0098839;postsynaptic density membrane;ISS	GO:0035255;ionotropic glutamate receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NETO1			https://www.ncbi.nlm.nih.gov/omim/?term=607973	http://www.informatics.jax.org/searchtool/Search.do?query=NETO1&submit=Quick%0D%11764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NETO1	rs35742923	0.676917	0.7408	0.6867	1	0	0	intronic	intronic	intronic	NETO1	NETO1	ENSG00000166342	Na	Na	Na	Na	Na	Na	Het;+A	971;38|44	Hom;+A	2813;0|97
N	N	-	18	71467214	71467214	C	A	snp	intergenic	 	 	 	 	RN7SL401P																		rs35109098	0.136182	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100505817(dist=450090),FBXO15(dist=273374)	LOC100505817(dist=450090),FBXO15(dist=273374)	ENSG00000241866(dist=54750),ENSG00000263655(dist=114426)	Na	Na	Na	Na	Na	Na	Het;C>A	39;3|3	Hom;C>A	404;0|17
N	N	-	18	7167723	7167723	G	A	snp	intergenic	 	 	 	 	SLC25A51P2																		rs524645	0.309305	0	0	1	0	0	intergenic	intergenic	intergenic	LAMA1(dist=49910),LRRC30(dist=63414)	LAMA1(dist=49910),LRRC30(dist=63414)	ENSG00000263716(dist=31905),ENSG00000206422(dist=63400)	Na	Na	Na	Na	Na	Na	Het;G>A	633;29|31	Hom;G>A	2544;0|101
N	N	-	18	71873216	71873216	G	A	snp	intergenic	 	 	 	 	TIMM21	Timm21	ENSG00000075336	translocase of inner mitochondrial membrane 21	chr18:71815746-71826197		Macular Degeneration; Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial protein import	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IMP|GO:0032981;mitochondrial respiratory chain complex I assembly;IMP|GO:0033617;mitochondrial respiratory chain complex IV assembly;IMP	GO:0005739;mitochondrion;IEA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TIMM21	https://www.uniprot.org/uniprot/Q9BVV7		https://www.ncbi.nlm.nih.gov/omim/?term=615180	http://www.informatics.jax.org/searchtool/Search.do?query=TIMM21&submit=Quick%0D%1540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM21	rs1790855	0.403155	0	0	1	0	0	intergenic	intergenic	intergenic	TIMM21(dist=47012),CYB5A(dist=47311)	TIMM21(dist=47012),CYB5A(dist=47311)	ENSG00000075336(dist=47019),ENSG00000260569(dist=5410)	Na	Na	Na	Na	Na	Na	Het;G>A	219;3|9	Hom;G>A	71;0|4
N	N	-	18	72057081	72057082	CT	C	indel	downstream	 	 	 	 	AC008021.1																		rs34266692	0.710463	0	0	1	0	0	intergenic	intergenic	downstream	C18orf63(dist=30659),FAM69C(dist=45881)	C18orf63(dist=30659),FAM69C(dist=45881)	ENSG00000235297	Na	Na	Na	Na	Na	Na	Het;-T	249;2|13	Hom;-T	441;0|17
N	N	-	18	72186175	72186175	T	TC	indel	intronic	 	 	 	 	CNDP2	Cndp2	ENSG00000133313	carnosine dipeptidase 2	chr18:72163051-72188366	CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]	diabetes, type 1 ; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Kidney Failure, Chronic	 	Glutathione synthesis and recycling	GO:0006508;proteolysis;IEA|GO:0006750;glutathione biosynthetic process;TAS|GO:0008152;metabolic process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016805;dipeptidase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0102008;cytosolic dipeptidase activity;IEA|GO:0103046;alanylglutamate dipeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNDP2	https://www.uniprot.org/uniprot/Q96KP4		https://www.ncbi.nlm.nih.gov/omim/?term=169800	http://www.informatics.jax.org/searchtool/Search.do?query=CNDP2&submit=Quick%0D%6824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNDP2	rs397956366	0.798123	0	0.7647	1	0	0	intronic	intronic	intronic	CNDP2	CNDP2	ENSG00000133313	Na	Na	Na	Na	Na	Na	Het;+C	1029;35|42	Hom;+C	2163;4|87
N	N	-	18	72186404	72186404	G	A	snp	intronic	 	 	 	 	CNDP2	Cndp2	ENSG00000133313	carnosine dipeptidase 2	chr18:72163051-72188366	CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]	diabetes, type 1 ; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Kidney Failure, Chronic	 	Glutathione synthesis and recycling	GO:0006508;proteolysis;IEA|GO:0006750;glutathione biosynthetic process;TAS|GO:0008152;metabolic process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016805;dipeptidase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0102008;cytosolic dipeptidase activity;IEA|GO:0103046;alanylglutamate dipeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNDP2	https://www.uniprot.org/uniprot/Q96KP4		https://www.ncbi.nlm.nih.gov/omim/?term=169800	http://www.informatics.jax.org/searchtool/Search.do?query=CNDP2&submit=Quick%0D%6824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNDP2	rs2241508	0.596446	0	0	1	0	0	intronic	intronic	intronic	CNDP2	CNDP2	ENSG00000133313	Na	Na	Na	Na	Na	Na	Het;G>A	538;29|32	Hom;G>A	1140;0|47
N	N	-	18	72998004	72998004	T	C	snp	synonymous SNV	T507C	Y169Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	TSHZ1	Tshz1	ENSG00000179981	teashirt zinc finger homeobox 1	chr18:72922710-73001905	This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]	Glucose; Heart Rate; Tobacco Use Disorder	Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0060023;soft palate development;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSHZ1		https://hpo.jax.org/app/browse/search?q=TSHZ1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614427	http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ1&submit=Quick%0D%14419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ1	rs3744908	0.275759	0.3222	0.3622	1	0	0	exonic	exonic	exonic	TSHZ1	TSHZ1	ENSG00000179981	synonymous SNV	synonymous SNV	unknown	TSHZ1:NM_005786:exon2:c.T507C:p.Y169Y,	TSHZ1:uc002lly.4:exon2:c.T507C:p.Y169Y,TSHZ1:uc021uln.1:exon1:c.T507C:p.Y169Y,	UNKNOWN	Het;T>C	1131;42|48	Hom;T>C	2307;0|78
N	N	-	18	72998268	72998268	T	C	snp	synonymous SNV	T771C	D257D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TSHZ1	Tshz1	ENSG00000179981	teashirt zinc finger homeobox 1	chr18:72922710-73001905	This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]	Glucose; Heart Rate; Tobacco Use Disorder	Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0060023;soft palate development;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSHZ1		https://hpo.jax.org/app/browse/search?q=TSHZ1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614427	http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ1&submit=Quick%0D%14419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ1	rs3744909	0.285942	0.3357	0.3590	1	0	0	exonic	exonic	exonic	TSHZ1	TSHZ1	ENSG00000179981	synonymous SNV	synonymous SNV	unknown	TSHZ1:NM_005786:exon2:c.T771C:p.D257D,	TSHZ1:uc002lly.4:exon2:c.T771C:p.D257D,TSHZ1:uc021uln.1:exon1:c.T771C:p.D257D,	UNKNOWN	Het;T>C	2121;77|94	Hom;T>C	4365;0|157
N	N	-	18	72998886	72998886	T	C	snp	synonymous SNV	T1389C	P463P	hydrophobic,neutral	hydrophobic,neutral	TSHZ1	Tshz1	ENSG00000179981	teashirt zinc finger homeobox 1	chr18:72922710-73001905	This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]	Glucose; Heart Rate; Tobacco Use Disorder	Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0060023;soft palate development;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSHZ1		https://hpo.jax.org/app/browse/search?q=TSHZ1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614427	http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ1&submit=Quick%0D%14419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ1	rs3809997	0.342252	0.3972	0.3728	1	0	0	exonic	exonic	exonic	TSHZ1	TSHZ1	ENSG00000179981	synonymous SNV	synonymous SNV	unknown	TSHZ1:NM_005786:exon2:c.T1389C:p.P463P,	TSHZ1:uc002lly.4:exon2:c.T1389C:p.P463P,TSHZ1:uc021uln.1:exon1:c.T1389C:p.P463P,	UNKNOWN	Het;T>C	1453;66|69	Hom;T>C	3753;0|135
N	N	-	18	73856535	73856535	A	C	snp	ncRNA_exonic	 	 	 	 	LOC339298																		rs11873765	0.416134	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC339298	LOC339298	ENSG00000263547	Na	Na	Na	Na	Na	Na	Het;A>C	881;35|42	Hom;A>C	2105;0|79
N	N	-	18	73856702	73856702	A	C	snp	ncRNA_intronic	 	 	 	 	LOC339298																		rs11150935	0.416334	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC339298	LOC339298	ENSG00000263547	Na	Na	Na	Na	Na	Na	Het;A>C	537;36|23	Hom;A>C	1159;0|35
N	N	-	18	73856735	73856735	A	G	snp	ncRNA_exonic	 	 	 	 	LOC339298																		rs11150936	0.416334	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC339298	LOC339298	ENSG00000263547	Na	Na	Na	Na	Na	Na	Het;A>G	907;52|40	Hom;A>G	2153;0|74
N	N	-	18	73856747	73856747	T	A	snp	ncRNA_exonic	 	 	 	 	LOC339298																		rs11874452	0.416334	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC339298	LOC339298	ENSG00000263547	Na	Na	Na	Na	Na	Na	Het;T>A	958;61|46	Hom;T>A	2595;0|95
N	N	-	18	73857252	73857252	G	A	snp	downstream	 	 	 	 	AC011095.1																		rs919609	0.361422	0	0	1	0	0	downstream	downstream	downstream	LOC339298	LOC339298	ENSG00000263547	Na	Na	Na	Na	Na	Na	Het;G>A	364;17|19	Hom;G>A	990;0|37
N	N	-	18	742858	742858	C	T	snp	intronic	 	 	 	 	YES1	Yes1	ENSG00000176105	YES proto-oncogene 1, Src family tyrosine kinase	chr18:721588-812547	This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]	Exercise Test; Celiac Disease|; Myocardial Infarction; Respiratory Function Tests; HIV	Homozygotes for targeted null alleles have no overt phenotype, but mice homozygous for both Yes and Src null mutations exhibit impaired movement and breathing, resulting in perinatal lethality.	Regulation of signaling by CBL	GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0015758;glucose transport;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0031295;T cell costimulation;TAS|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0043114;regulation of vascular permeability;TAS|GO:0045087;innate immune response;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005102;receptor binding;IBA|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/YES1			https://www.ncbi.nlm.nih.gov/omim/?term=164880	http://www.informatics.jax.org/searchtool/Search.do?query=YES1&submit=Quick%0D%13801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YES1	rs9961743	0.616214	0	0	1	0	0	intronic	intronic	intronic	YES1	YES1	ENSG00000176105	Na	Na	Na	Na	Na	Na	Het;C>T	143;12|7	Hom;C>T	740;0|25
N	N	-	18	74301851	74301851	A	T	snp	intronic	 	 	 	 	LINC00908	 																	rs62112948	0.414537	0	0	1	0	0	intergenic	intergenic	intronic	LINC00908(dist=30067),LINC00683(dist=29883)	LINC00908(dist=30067),FLJ44881(dist=100135)	ENSG00000263812	Na	Na	Na	Na	Na	Na	Het;A>T	413;14|11	Hom;A>T	1277;0|29
N	N	-	18	74301852	74301852	G	C	snp	intronic	 	 	 	 	LINC00908	 																	rs62112949	0.414137	0	0	1	0	0	intergenic	intergenic	intronic	LINC00908(dist=30068),LINC00683(dist=29882)	LINC00908(dist=30068),FLJ44881(dist=100134)	ENSG00000263812	Na	Na	Na	Na	Na	Na	Het;G>C	413;14|12	Hom;G>C	1277;0|29
N	N	-	18	743226	743226	A	G	snp	intronic	 	 	 	 	YES1	Yes1	ENSG00000176105	YES proto-oncogene 1, Src family tyrosine kinase	chr18:721588-812547	This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]	Exercise Test; Celiac Disease|; Myocardial Infarction; Respiratory Function Tests; HIV	Homozygotes for targeted null alleles have no overt phenotype, but mice homozygous for both Yes and Src null mutations exhibit impaired movement and breathing, resulting in perinatal lethality.	Regulation of signaling by CBL	GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0015758;glucose transport;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0031295;T cell costimulation;TAS|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0043114;regulation of vascular permeability;TAS|GO:0045087;innate immune response;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005102;receptor binding;IBA|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/YES1			https://www.ncbi.nlm.nih.gov/omim/?term=164880	http://www.informatics.jax.org/searchtool/Search.do?query=YES1&submit=Quick%0D%13801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YES1	rs3786347	0.617412	0.5660	0.5596	1	0	0	intronic	intronic	intronic	YES1	YES1	ENSG00000176105	Na	Na	Na	Na	Na	Na	Het;A>G	447;24|22	Hom;A>G	1843;0|62
N	N	-	18	743436	743436	T	C	snp	intronic	 	 	 	 	YES1	Yes1	ENSG00000176105	YES proto-oncogene 1, Src family tyrosine kinase	chr18:721588-812547	This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]	Exercise Test; Celiac Disease|; Myocardial Infarction; Respiratory Function Tests; HIV	Homozygotes for targeted null alleles have no overt phenotype, but mice homozygous for both Yes and Src null mutations exhibit impaired movement and breathing, resulting in perinatal lethality.	Regulation of signaling by CBL	GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0015758;glucose transport;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0031295;T cell costimulation;TAS|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0043114;regulation of vascular permeability;TAS|GO:0045087;innate immune response;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005102;receptor binding;IBA|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/YES1			https://www.ncbi.nlm.nih.gov/omim/?term=164880	http://www.informatics.jax.org/searchtool/Search.do?query=YES1&submit=Quick%0D%13801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YES1	rs3786348	0.617212	0.5662	0.5642	1	0	0	intronic	intronic	intronic	YES1	YES1	ENSG00000176105	Na	Na	Na	Na	Na	Na	Het;T>C	102;11|5	Hom;T>C	495;0|15
N	N	-	18	74375014	74375014	A	C	snp	intergenic	 	 	 	 	LINC01927																		rs4433895	0.34365	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927651(dist=24046),LOC400661(dist=26972)	LINC00908(dist=103230),FLJ44881(dist=26972)	ENSG00000266312(dist=24046),ENSG00000229055(dist=26972)	Na	Na	Na	Na	Na	Na	Het;A>C	274;11|14	Hom;A>C	859;1|35
N	N	-	18	74402402	74402402	C	T	snp	ncRNA_exonic	 	 	 	 	LOC400661																		rs6565904	0.321286	0.3774	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC400661	FLJ44881	ENSG00000229055	Na	Na	Na	Na	Na	Na	Het;C>T	1623;96|76	Hom;C>T	5353;3|155
N	N	-	18	74402637	74402637	C	G	snp	ncRNA_exonic	 	 	 	 	LOC400661																		rs11150974	0.403355	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC400661	FLJ44881	ENSG00000229055	Na	Na	Na	Na	Na	Na	Het;C>G	1830;85|86	Hom;C>G	5104;3|186
N	N	-	18	74403367	74403367	A	C	snp	ncRNA_exonic	 	 	 	 	LOC400661																		rs7241806	0.345447	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC400661	FLJ44881	ENSG00000229055	Na	Na	Na	Na	Na	Na	Het;A>C	532;42|26	Hom;A>C	1978;0|71
N	N	-	18	751880	751880	C	CA	indel	intronic	 	 	 	 	YES1	Yes1	ENSG00000176105	YES proto-oncogene 1, Src family tyrosine kinase	chr18:721588-812547	This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]	Exercise Test; Celiac Disease|; Myocardial Infarction; Respiratory Function Tests; HIV	Homozygotes for targeted null alleles have no overt phenotype, but mice homozygous for both Yes and Src null mutations exhibit impaired movement and breathing, resulting in perinatal lethality.	Regulation of signaling by CBL	GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0015758;glucose transport;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0031295;T cell costimulation;TAS|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0043114;regulation of vascular permeability;TAS|GO:0045087;innate immune response;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005102;receptor binding;IBA|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/YES1			https://www.ncbi.nlm.nih.gov/omim/?term=164880	http://www.informatics.jax.org/searchtool/Search.do?query=YES1&submit=Quick%0D%13801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YES1	rs34440107	0	0	0	1	0	0	intronic	intronic	intronic	YES1	YES1	ENSG00000176105	Na	Na	Na	Na	Na	Na	Het;+A	100;12|8	Hom;+A	397;4|17
N	N	-	18	76034430	76034430	C	CATT	indel	intergenic	 	 	 	 	AC107892.1																		rs60603273	0.701278	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01029(dist=328747),SALL3(dist=705845)	GALR1(dist=1052334),SALL3(dist=705845)	ENSG00000266213(dist=133543),ENSG00000265644(dist=206119)	Na	Na	Na	Na	Na	Na	Het;+ATT	888;14|21	Hom;+ATT	1492;0|32
N	N	-	18	76334422	76334422	A	G	snp	intergenic	 	 	 	 	Y_RNA																		rs56218205	0.287141	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01029(dist=628739),SALL3(dist=405853)	GALR1(dist=1352326),SALL3(dist=405853)	ENSG00000201723(dist=30234),ENSG00000266273(dist=221190)	Na	Na	Na	Na	Na	Na	Het;A>G	599;21|26	Hom;A>G	788;0|28
N	N	-	18	77171061	77171061	T	G	snp	synonymous SNV	T786G	P262P	hydrophobic,neutral	hydrophobic,neutral	NFATC1	Nfatc1	ENSG00000131196	nuclear factor of activated T-cells 1	chr18:77155856-77289325	The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]	Type 2 Diabetes| edema | rosiglitazone; Blood Pressure; Eosinophils; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Bone Mineral Density; heart anomalies, congenital; Body Fat Distribution	Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation.	CLEC7A (Dectin-1) induces NFAT activation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0030178;negative regulation of Wnt signaling pathway;ISS|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;ISS|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0001225;RNA polymerase II transcription coactivator binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0005515;protein binding;IPI|GO:0005528;FK506 binding;TAS|GO:0048273;mitogen-activated protein kinase p38 binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NFATC1	https://www.uniprot.org/uniprot/O95644		https://www.ncbi.nlm.nih.gov/omim/?term=600489	http://www.informatics.jax.org/searchtool/Search.do?query=NFATC1&submit=Quick%0D%6514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC1	rs2230112	0.590655	0.5488	0.6820	1	0	0	exonic	exonic	exonic	NFATC1	NFATC1	ENSG00000131196	synonymous SNV	synonymous SNV	unknown	NFATC1:NM_172387:exon2:c.T747G:p.P249P,NFATC1:NM_001278670:exon2:c.T786G:p.P262P,NFATC1:NM_172389:exon2:c.T747G:p.P249P,NFATC1:NM_001278672:exon2:c.T747G:p.P249P,NFATC1:NM_006162:exon2:c.T786G:p.P262P,NFATC1:NM_172390:exon2:c.T786G:p.P262P,NFATC1:NM_001278675:exon2:c.T747G:p.P249P,NFATC1:NM_001278669:exon2:c.T786G:p.P262P,	NFATC1:uc002lnd.3:exon2:c.T786G:p.P262P,NFATC1:uc002lnf.3:exon2:c.T747G:p.P249P,NFATC1:uc010xfi.1:exon2:c.T747G:p.P249P,NFATC1:uc010xff.1:exon2:c.T786G:p.P262P,NFATC1:uc010xfg.2:exon2:c.T786G:p.P262P,NFATC1:uc002lng.3:exon2:c.T747G:p.P249P,NFATC1:uc010xfk.2:exon2:c.T747G:p.P249P,NFATC1:uc002lnc.1:exon2:c.T786G:p.P262P,NFATC1:uc010xfh.2:exon2:c.T786G:p.P262P,	UNKNOWN	Het;T>G	1500;71|67	Hom;T>G	2951;0|105
N	N	-	18	77246406	77246406	T	G	snp	nonsynonymous SNV	T2212G	C738G	polar,hydrophobic,neutral	aliphatic,neutral	NFATC1	Nfatc1	ENSG00000131196	nuclear factor of activated T-cells 1	chr18:77155856-77289325	The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]	Type 2 Diabetes| edema | rosiglitazone; Blood Pressure; Eosinophils; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Bone Mineral Density; heart anomalies, congenital; Body Fat Distribution	Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation.	CLEC7A (Dectin-1) induces NFAT activation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0030178;negative regulation of Wnt signaling pathway;ISS|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;ISS|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0001225;RNA polymerase II transcription coactivator binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0005515;protein binding;IPI|GO:0005528;FK506 binding;TAS|GO:0048273;mitogen-activated protein kinase p38 binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NFATC1	https://www.uniprot.org/uniprot/O95644		https://www.ncbi.nlm.nih.gov/omim/?term=600489	http://www.informatics.jax.org/searchtool/Search.do?query=NFATC1&submit=Quick%0D%6514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC1	rs754093	0.338858	0.3686	0.4172	0.46	6	13	exonic	exonic	exonic	NFATC1	NFATC1	ENSG00000131196	nonsynonymous SNV	nonsynonymous SNV	unknown	NFATC1:NM_172387:exon9:c.T2212G:p.C738G,NFATC1:NM_172388:exon8:c.T835G:p.C279G,NFATC1:NM_172389:exon9:c.T2212G:p.C738G,NFATC1:NM_001278673:exon8:c.T835G:p.C279G,NFATC1:NM_006162:exon9:c.T2251G:p.C751G,NFATC1:NM_001278669:exon9:c.T2251G:p.C751G,	NFATC1:uc002lnd.3:exon9:c.T2251G:p.C751G,NFATC1:uc002lnf.3:exon9:c.T2212G:p.C738G,NFATC1:uc010xfj.2:exon8:c.T835G:p.C279G,NFATC1:uc010xfg.2:exon9:c.T2251G:p.C751G,NFATC1:uc002lne.3:exon8:c.T835G:p.C279G,NFATC1:uc002lng.3:exon9:c.T2212G:p.C738G,	UNKNOWN	Het;T>G	1209;104|63	Hom;T>G	3407;1|121
N	N	-	18	77420703	77420703	C	G	snp	ncRNA_exonic	 	 	 	 	AC068473.1																		rs868678	0.73762	0	0.7896	1	0	0	intergenic	intergenic	ncRNA_exonic	NFATC1(dist=131380),CTDP1(dist=19098)	NFATC1(dist=131380),CTDP1(dist=19098)	ENSG00000178412	Na	Na	Na	Na	Na	Na	Het;C>G	882;94|50	Hom;C>G	2933;0|106
N	N	-	18	77439532	77439532	T	C	snp	ncRNA_exonic	 	 	 	 	AC068473.1																		rs3826573	0.655351	0	0.6863	1	0	0	upstream	upstream	ncRNA_exonic	CTDP1	CTDP1	ENSG00000178412	Na	Na	Na	Na	Na	Na	Het;T>C	984;34|46	Hom;T>C	2868;0|100
N	N	-	18	77455871	77455871	C	T	snp	intronic	 	 	 	 	CTDP1	Ctdp1	ENSG00000282752	CTD phosphatase subunit 1	chr18:77439801-77514510	This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]	Chronic renal failure|Kidney Failure, Chronic; Prostatic Neoplasms; Bipolar Disorder; Amyotrophic Lateral Sclerosis; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006470;protein dephosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016607;nuclear speck;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTDP1		https://hpo.jax.org/app/browse/search?q=CTDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604927	http://www.informatics.jax.org/searchtool/Search.do?query=CTDP1&submit=Quick%0D%22598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTDP1	rs558700	0.508586	0	0	1	0	0	intronic	intronic	intronic	CTDP1	CTDP1	ENSG00000060069	Na	Na	Na	Na	Na	Na	Het;C>T	303;3|12	Hom;C>T	368;0|13
N	N	-	18	77456172	77456172	A	G	snp	intronic	 	 	 	 	CTDP1	Ctdp1	ENSG00000282752	CTD phosphatase subunit 1	chr18:77439801-77514510	This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]	Chronic renal failure|Kidney Failure, Chronic; Prostatic Neoplasms; Bipolar Disorder; Amyotrophic Lateral Sclerosis; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006470;protein dephosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016607;nuclear speck;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTDP1		https://hpo.jax.org/app/browse/search?q=CTDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604927	http://www.informatics.jax.org/searchtool/Search.do?query=CTDP1&submit=Quick%0D%22598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTDP1	rs655609	0.744808	0	0	1	0	0	intronic	intronic	intronic	CTDP1	CTDP1	ENSG00000060069	Na	Na	Na	Na	Na	Na	Het;A>G	290;7|10	Hom;A>G	528;0|14
N	N	-	18	77458037	77458037	T	C	snp	intronic	 	 	 	 	CTDP1	Ctdp1	ENSG00000282752	CTD phosphatase subunit 1	chr18:77439801-77514510	This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]	Chronic renal failure|Kidney Failure, Chronic; Prostatic Neoplasms; Bipolar Disorder; Amyotrophic Lateral Sclerosis; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006470;protein dephosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016607;nuclear speck;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTDP1		https://hpo.jax.org/app/browse/search?q=CTDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604927	http://www.informatics.jax.org/searchtool/Search.do?query=CTDP1&submit=Quick%0D%22598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTDP1	rs2242174	0.296925	0.2861	0.3653	1	0	0	intronic	intronic	intronic	CTDP1	CTDP1	ENSG00000060069	Na	Na	Na	Na	Na	Na	Het;T>C	804;40|34	Hom;T>C	2656;0|88
N	N	-	18	77470834	77470834	C	T	snp	intronic	 	 	 	 	CTDP1	Ctdp1	ENSG00000282752	CTD phosphatase subunit 1	chr18:77439801-77514510	This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]	Chronic renal failure|Kidney Failure, Chronic; Prostatic Neoplasms; Bipolar Disorder; Amyotrophic Lateral Sclerosis; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006470;protein dephosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016607;nuclear speck;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTDP1		https://hpo.jax.org/app/browse/search?q=CTDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604927	http://www.informatics.jax.org/searchtool/Search.do?query=CTDP1&submit=Quick%0D%22598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTDP1	rs676713	0.735024	0	0	1	0	0	intronic	intronic	intronic	CTDP1	CTDP1	ENSG00000060069	Na	Na	Na	Na	Na	Na	Het;C>T	64;8|6	Hom;C>T	179;0|8
N	N	-	18	77470920	77470920	A	G	snp	intronic	 	 	 	 	CTDP1	Ctdp1	ENSG00000282752	CTD phosphatase subunit 1	chr18:77439801-77514510	This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]	Chronic renal failure|Kidney Failure, Chronic; Prostatic Neoplasms; Bipolar Disorder; Amyotrophic Lateral Sclerosis; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006470;protein dephosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016607;nuclear speck;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTDP1		https://hpo.jax.org/app/browse/search?q=CTDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604927	http://www.informatics.jax.org/searchtool/Search.do?query=CTDP1&submit=Quick%0D%22598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTDP1	rs677157	0.735024	0	0	1	0	0	intronic	intronic	intronic	CTDP1	CTDP1	ENSG00000060069	Na	Na	Na	Na	Na	Na	Het;A>G	154;8|8	Hom;A>G	246;0|9
N	N	-	18	77496677	77496677	C	A	snp	intronic	 	 	 	 	CTDP1	Ctdp1	ENSG00000282752	CTD phosphatase subunit 1	chr18:77439801-77514510	This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]	Chronic renal failure|Kidney Failure, Chronic; Prostatic Neoplasms; Bipolar Disorder; Amyotrophic Lateral Sclerosis; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006470;protein dephosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016607;nuclear speck;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTDP1		https://hpo.jax.org/app/browse/search?q=CTDP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604927	http://www.informatics.jax.org/searchtool/Search.do?query=CTDP1&submit=Quick%0D%22598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTDP1	rs4799081	0.694089	0	0	1	0	0	intronic	intronic	intronic	CTDP1	CTDP1	ENSG00000060069	Na	Na	Na	Na	Na	Na	Het;C>A	66;1|3	Hom;C>A	161;0|6
N	N	-	18	77733273	77733273	C	T	snp	UTR3	*412G>A	 	 	 	TXNL4A	Txnl4a	ENSG00000141759	thioredoxin like 4A	chr18:77732867-77793949	The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	BURN-MCKEOWN SYNDROME	 	mRNA Splicing - Minor Pathway	GO:0000245;spliceosomal complex assembly;TAS|GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0051301;cell division;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TXNL4A	https://www.uniprot.org/uniprot/P83876	https://hpo.jax.org/app/browse/search?q=TXNL4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611595	http://www.informatics.jax.org/searchtool/Search.do?query=TXNL4A&submit=Quick%0D%8224ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNL4A	rs4798931	0.402556	0	0	1	0	0	UTR3	UTR3	UTR3	TXNL4A(NM_006701:c.*412G>A,NM_001303471:c.*412G>A)	TXNL4A(uc002lnp.3:c.*412G>A,uc002lnr.3:c.*635G>A,uc010drg.3:c.*412G>A)	ENSG00000141759(ENST00000269601:c.*412G>A,ENST00000585474:c.*412G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	679;36|34	Hom;C>T	2038;0|77
N	N	-	18	77737810	77737815	TTTTTG	T	indel	UTR5	-169_-174delinsA	 	 	 	TXNL4A	Txnl4a	ENSG00000141759	thioredoxin like 4A	chr18:77732867-77793949	The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	BURN-MCKEOWN SYNDROME	 	mRNA Splicing - Minor Pathway	GO:0000245;spliceosomal complex assembly;TAS|GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0051301;cell division;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TXNL4A	https://www.uniprot.org/uniprot/P83876	https://hpo.jax.org/app/browse/search?q=TXNL4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611595	http://www.informatics.jax.org/searchtool/Search.do?query=TXNL4A&submit=Quick%0D%8224ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNL4A	rs147014161	0.407149	0	0	1	0	0	intronic	intronic	UTR5	TXNL4A	TXNL4A	ENSG00000141759(ENST00000592837:c.-169_-174delinsA)	Na	Na	Na	Na	Na	Na	Het;-TTTTG	44;1|2	Hom;-TTTTG	188;0|5
N	N	-	18	7774104	7774104	T	C	snp	intronic	 	 	 	 	PTPRM	Ptprm	ENSG00000173482	protein tyrosine phosphatase, receptor type M	chr18:7566780-8406859	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Alcoholism; Cholesterol, HDL; Hip; Fibrinogen; Body Weight; Blood Cells; Prostatic Neoplasms; Iron; Diabetes Mellitus, Type 2; Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Blood Proteins	Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries.		GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0010842;retina layer formation;IMP|GO:0016311;dephosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0031175;neuron projection development;IDA|GO:0031290;retinal ganglion cell axon guidance;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042493;response to drug;IDA|GO:0097755;positive regulation of blood vessel diameter;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRM			https://www.ncbi.nlm.nih.gov/omim/?term=176888	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRM&submit=Quick%0D%13368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRM	rs875530	0.532348	0.4382	0.5461	1	0	0	intronic	intronic	intronic	PTPRM	PTPRM	ENSG00000173482	Na	Na	Na	Na	Na	Na	Het;T>C	380;22|17	Hom;T>C	1349;0|43
N	N	-	18	77748659	77748659	G	A	snp	upstream	 	 	 	 	TXNL4A	Txnl4a	ENSG00000141759	thioredoxin like 4A	chr18:77732867-77793949	The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	BURN-MCKEOWN SYNDROME	 	mRNA Splicing - Minor Pathway	GO:0000245;spliceosomal complex assembly;TAS|GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0051301;cell division;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TXNL4A	https://www.uniprot.org/uniprot/P83876	https://hpo.jax.org/app/browse/search?q=TXNL4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611595	http://www.informatics.jax.org/searchtool/Search.do?query=TXNL4A&submit=Quick%0D%8224ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNL4A	rs1077510	0.378395	0	0	1	0	0	upstream	intronic	intronic	TXNL4A	TXNL4A	ENSG00000141759	Na	Na	Na	Na	Na	Na	Het;G>A	195;2|8	Hom;G>A	141;0|6
N	N	-	18	8262142	8262142	A	G	snp	intronic	 	 	 	 	PTPRM	Ptprm	ENSG00000173482	protein tyrosine phosphatase, receptor type M	chr18:7566780-8406859	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Alcoholism; Cholesterol, HDL; Hip; Fibrinogen; Body Weight; Blood Cells; Prostatic Neoplasms; Iron; Diabetes Mellitus, Type 2; Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Blood Proteins	Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries.		GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0010842;retina layer formation;IMP|GO:0016311;dephosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0031175;neuron projection development;IDA|GO:0031290;retinal ganglion cell axon guidance;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042493;response to drug;IDA|GO:0097755;positive regulation of blood vessel diameter;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRM			https://www.ncbi.nlm.nih.gov/omim/?term=176888	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRM&submit=Quick%0D%13368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRM	rs56270000	0.29353	0	0	1	0	0	intronic	intronic	intronic	PTPRM	PTPRM	ENSG00000173482	Na	Na	Na	Na	Na	Na	Het;A>G	86;4|3	Hom;A>G	242;0|6
N	N	-	18	8262149	8262149	T	C	snp	intronic	 	 	 	 	PTPRM	Ptprm	ENSG00000173482	protein tyrosine phosphatase, receptor type M	chr18:7566780-8406859	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Alcoholism; Cholesterol, HDL; Hip; Fibrinogen; Body Weight; Blood Cells; Prostatic Neoplasms; Iron; Diabetes Mellitus, Type 2; Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Blood Proteins	Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries.		GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0010842;retina layer formation;IMP|GO:0016311;dephosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0031175;neuron projection development;IDA|GO:0031290;retinal ganglion cell axon guidance;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042493;response to drug;IDA|GO:0097755;positive regulation of blood vessel diameter;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRM			https://www.ncbi.nlm.nih.gov/omim/?term=176888	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRM&submit=Quick%0D%13368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRM	rs55889688	0.29393	0	0	1	0	0	intronic	intronic	intronic	PTPRM	PTPRM	ENSG00000173482	Na	Na	Na	Na	Na	Na	Het;T>C	86;4|3	Hom;T>C	242;0|6
N	N	-	18	8786117	8786117	C	CCCCA	indel	frameshift substitution	1429_1429delinsCCCCA	 	 	 	SOGA2	 																	rs555665585	0	0	0.0394	1	0	0	intronic	exonic	intronic	MTCL1	SOGA2	ENSG00000168502	Na	frameshift substitution	Na	Na	SOGA2:uc010dkw.1:exon2:c.1429_1429delinsCCCCA,	Na	Het;+CCCA	706;4|23	Hom;+CCCA	631;3|18
N	N	-	18	907675	907675	G	A	snp	synonymous SNV	G126A	A42A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADCYAP1	Adcyap1	ENSG00000141433	adenylate cyclase activating polypeptide 1	chr18:904944-912173	This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]	Forced Vital Capacity; schizophrenia; bipolar disorder; Sudden Infant Death; bipolar disorder; Bipolar Disorder; Bulimia; several psychiatric disorders; multiple sclerosis; Cholesterol; Alcoholism; Carotid Artery Diseases; Schizophrenia; Myocardial Infarction; metabolic syndrome; major depressive disorder; bronchodilator response; diabetes, type 2	Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities.	Glucagon-type ligand receptors	GO:0001541;ovarian follicle development;IEA|GO:0001662;behavioral fear response;IEA|GO:0001821;histamine secretion;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0002865;negative regulation of acute inflammatory response to antigenic stimulus;IEA|GO:0002878;negative regulation of acute inflammatory response to non-antigenic stimulus;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;ISS|GO:0007218;neuropeptide signaling pathway;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;IEA|GO:0007565;female pregnancy;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010579;positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010656;negative regulation of muscle cell apoptotic process;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019933;cAMP-mediated signaling;IMP|GO:0021983;pituitary gland development;IEA|GO:0030073;insulin secretion;ISS|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0031175;neuron projection development;IDA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032880;regulation of protein localization;IDA|GO:0034260;negative regulation of GTPase activity;IEA|GO:0042594;response to starvation;IEA|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046034;ATP metabolic process;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060124;positive regulation of growth hormone secretion;ISS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070445;regulation of oligodendrocyte progenitor proliferation;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IDA|GO:0090274;positive regulation of somatostatin secretion;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0043195;terminal bouton;IEA	GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005102;receptor binding;IPI|GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;IDA|GO:0005515;protein binding;IPI|GO:0016521;pituitary adenylate cyclase activating polypeptide activity;IDA|GO:0031858;pituitary adenylate cyclase-activating polypeptide receptor binding;IEA|GO:0051428;peptide hormone receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ADCYAP1	https://www.uniprot.org/uniprot/P18509		https://www.ncbi.nlm.nih.gov/omim/?term=102980	http://www.informatics.jax.org/searchtool/Search.do?query=ADCYAP1&submit=Quick%0D%8160ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCYAP1	rs8192597	0.702077	0.6520	0.7364	1	0	0	exonic	exonic	exonic	ADCYAP1	ADCYAP1	ENSG00000141433	synonymous SNV	synonymous SNV	unknown	ADCYAP1:NM_001099733:exon3:c.G126A:p.A42A,ADCYAP1:NM_001117:exon2:c.G126A:p.A42A,	ADCYAP1:uc010dkg.3:exon3:c.G126A:p.A42A,ADCYAP1:uc010dkh.4:exon2:c.G126A:p.A42A,	UNKNOWN	Het;G>A	278;9|16	Hom;G>A	662;0|25
N	N	-	18	9117867	9117867	T	C	snp	nonsynonymous SNV	T86C	V29A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NDUFV2	Ndufv2	ENSG00000178127	NADH:ubiquinone oxidoreductase core subunit V2	chr18:9102628-9134343	The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]	schizophrenia; cognitive trait; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Parkinson's disease; Aging/ Telomere Length; Bipolar Disorder; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a transposon induced allele may exhibit embryonic lethality at E7.	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0007399;nervous system development;IMP|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0048738;cardiac muscle tissue development;IMP|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA|GO:0070469;respiratory chain;IEA	GO:0003954;NADH dehydrogenase activity;IEA|GO:0008137;NADH dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFV2		https://hpo.jax.org/app/browse/search?q=NDUFV2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600532	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFV2&submit=Quick%0D%14139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFV2	rs906807	0.778954	0.7995	0.8001	0.23	3	13	exonic	exonic	exonic	NDUFV2	NDUFV2	ENSG00000178127	nonsynonymous SNV	nonsynonymous SNV	unknown	NDUFV2:NM_021074:exon2:c.T86C:p.V29A,	NDUFV2:uc002knu.3:exon2:c.T86C:p.V29A,	UNKNOWN	Het;T>C	1077;71|56	Hom;T>C	3114;0|116
N	N	-	18	9124799	9124800	CT	C	indel	ncRNA_intronic	 	 	 	 	NDUFV2-AS1																		rs35039643	0.630391	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NDUFV2-AS1	NDUFV2	ENSG00000265257,ENSG00000266053	Na	Na	Na	Na	Na	Na	Het;-T	248;14|21	Hom;-T	557;0|27
N	N	-	18	9132371	9132371	A	C	snp	ncRNA_exonic	 	 	 	 	NDUFV2-AS1																		rs2276095	0.778754	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	NDUFV2-AS1	NDUFV2	ENSG00000266053	Na	Na	Na	Na	Na	Na	Het;A>C	470;41|25	Hom;A>C	2925;0|106
N	N	-	18	9255982	9255982	A	G	snp	nonsynonymous SNV	A2648G	K883R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ANKRD12	Ankrd12	ENSG00000101745	ankyrin repeat domain 12	chr18:9136226-9285983	This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]	Tobacco Use Disorder; Pancreatic Neoplasms	 			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ANKRD12	https://www.uniprot.org/uniprot/Q6UB98		https://www.ncbi.nlm.nih.gov/omim/?term=610616	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD12&submit=Quick%0D%2775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD12	rs4798791	0.613419	0.5453	0.6565	0.46	6	13	exonic	exonic	exonic	ANKRD12	ANKRD12	ENSG00000101745	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD12:NM_001204056:exon8:c.A2648G:p.K883R,ANKRD12:NM_015208:exon9:c.A2717G:p.K906R,ANKRD12:NM_001083625:exon8:c.A2648G:p.K883R,	ANKRD12:uc002knv.3:exon9:c.A2717G:p.K906R,ANKRD12:uc002knx.3:exon8:c.A2648G:p.K883R,ANKRD12:uc002knw.3:exon8:c.A2648G:p.K883R,ANKRD12:uc010dkx.1:exon4:c.A1838G:p.K613R,	UNKNOWN	Het;A>G	710;67|40	Hom;A>G	3575;0|129
N	N	-	18	9741781	9741781	T	C	snp	intronic	 	 	 	 	RAB31	Rab31	ENSG00000168461	RAB31, member RAS oncogene family	chr18:9708162-9862548	Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]	Hemoglobin A, Glycosylated; Tobacco Use Disorder; Cell Adhesion Molecules	 	RAB GEFs exchange GTP for GDP on RABs	GO:0031623;receptor internalization;IMP|GO:0032869;cellular response to insulin stimulus;IMP|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0045055;regulated exocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090382;phagosome maturation;IMP	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0032588;trans-Golgi network membrane;IDA|GO:0045335;phagocytic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAB31			https://www.ncbi.nlm.nih.gov/omim/?term=605694	http://www.informatics.jax.org/searchtool/Search.do?query=RAB31&submit=Quick%0D%12274ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB31	rs1455585	0.923922	0	0	1	0	0	intronic	intronic	intronic	RAB31	RAB31	ENSG00000168461	Na	Na	Na	Na	Na	Na	Het;T>C	845;33|35	Hom;T>C	1357;0|46
N	N	-	18	9845857	9845857	C	A	snp	intronic	 	 	 	 	RAB31	Rab31	ENSG00000168461	RAB31, member RAS oncogene family	chr18:9708162-9862548	Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]	Hemoglobin A, Glycosylated; Tobacco Use Disorder; Cell Adhesion Molecules	 	RAB GEFs exchange GTP for GDP on RABs	GO:0031623;receptor internalization;IMP|GO:0032869;cellular response to insulin stimulus;IMP|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0045055;regulated exocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090382;phagosome maturation;IMP	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0032588;trans-Golgi network membrane;IDA|GO:0045335;phagocytic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAB31			https://www.ncbi.nlm.nih.gov/omim/?term=605694	http://www.informatics.jax.org/searchtool/Search.do?query=RAB31&submit=Quick%0D%12274ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB31	rs2239508	0.367013	0	0	1	0	0	intronic	intronic	intronic	RAB31	RAB31	ENSG00000168461	Na	Na	Na	Na	Na	Na	Het;C>A	152;4|6	Hom;C>A	291;0|10
N	N	-	18	9886567	9886567	T	G	snp	intronic	 	 	 	 	TXNDC2	Txndc2	ENSG00000168454	thioredoxin domain containing 2	chr18:9885763-9889272	Sptrx open reading frame encodes for a protein of 486 amino acids composed of two clear domains.	Sleep; Echocardiography; Phosphorus	Homozygous mutation of this gene displays normal reproductive system phenotype while results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge.		GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0001520;outer dense fiber;IEA|GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA	GO:0004791;thioredoxin-disulfide reductase activity;IDA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IBA|GO:0047134;protein-disulfide reductase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TXNDC2	https://www.uniprot.org/uniprot/Q86VQ3			http://www.informatics.jax.org/searchtool/Search.do?query=TXNDC2&submit=Quick%0D%210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNDC2	rs62078799	0	0	0.4780	1	0	0	intronic	intronic	intronic	TXNDC2	TXNDC2	ENSG00000168454	Na	Na	Na	Na	Na	Na	Het;T>G	192;25|11	Hom;T>G	570;1|21
N	N	-	18	9886568	9886572	TTATG	T	indel	intronic	 	 	 	 	TXNDC2	Txndc2	ENSG00000168454	thioredoxin domain containing 2	chr18:9885763-9889272	Sptrx open reading frame encodes for a protein of 486 amino acids composed of two clear domains.	Sleep; Echocardiography; Phosphorus	Homozygous mutation of this gene displays normal reproductive system phenotype while results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge.		GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0001520;outer dense fiber;IEA|GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA	GO:0004791;thioredoxin-disulfide reductase activity;IDA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IBA|GO:0047134;protein-disulfide reductase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TXNDC2	https://www.uniprot.org/uniprot/Q86VQ3			http://www.informatics.jax.org/searchtool/Search.do?query=TXNDC2&submit=Quick%0D%210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNDC2	rs112324257	0	0	0.4663	1	0	0	intronic	intronic	intronic	TXNDC2	TXNDC2	ENSG00000168454	Na	Na	Na	Na	Na	Na	Het;-TATG	168;32|11	Hom;-TATG	561;1|21
N	N	-	18	9888069	9888069	A	G	snp	synonymous SNV	A1392G	E464E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TXNDC2	Txndc2	ENSG00000168454	thioredoxin domain containing 2	chr18:9885763-9889272	Sptrx open reading frame encodes for a protein of 486 amino acids composed of two clear domains.	Sleep; Echocardiography; Phosphorus	Homozygous mutation of this gene displays normal reproductive system phenotype while results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge.		GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0001520;outer dense fiber;IEA|GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA	GO:0004791;thioredoxin-disulfide reductase activity;IDA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IBA|GO:0047134;protein-disulfide reductase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TXNDC2	https://www.uniprot.org/uniprot/Q86VQ3			http://www.informatics.jax.org/searchtool/Search.do?query=TXNDC2&submit=Quick%0D%210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNDC2	rs2240905	0.554712	0.4901	0.5268	1	0	0	exonic	exonic	exonic	TXNDC2	TXNDC2	ENSG00000168454	synonymous SNV	synonymous SNV	unknown	TXNDC2:NM_001098529:exon2:c.A1593G:p.E531E,TXNDC2:NM_032243:exon2:c.A1392G:p.E464E,	TXNDC2:uc021ugx.1:exon1:c.A1392G:p.E464E,TXNDC2:uc002koh.4:exon2:c.A1392G:p.E464E,TXNDC2:uc002koi.4:exon2:c.A1593G:p.E531E,	UNKNOWN	Het;A>G	975;75|45	Hom;A>G	2175;0|76
N	N	-	19	10024322	10024322	C	T	snp	UTR5	-29G>A	 	 	 	OLFM2	Olfm2	ENSG00000105088	olfactomedin 2	chr19:9964394-10047228		Menarche; glaucoma, primary open-angle	Mice homozygous for a knock-out allele exhibit moderate locomotor and anxiety-related behavioral abnormalities, altered visual evoked potential, and reduced compactness of myelin sheaths in the optic nerve.		GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009306;protein secretion;IDA|GO:0051152;positive regulation of smooth muscle cell differentiation;IMP	GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0045202;synapse;IEA|GO:0097060;synaptic membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/OLFM2	https://www.uniprot.org/uniprot/O95897		https://www.ncbi.nlm.nih.gov/omim/?term=617492	http://www.informatics.jax.org/searchtool/Search.do?query=OLFM2&submit=Quick%0D%3232ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OLFM2	rs3745579	0.410543	0.4506	0.5402	1	0	0	UTR5	intronic	UTR5	OLFM2(NM_001304347:c.-29G>A)	OLFM2	ENSG00000105088(ENST00000593091:c.-29G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	693;29|32	Hom;C>T	1682;0|66
N	N	-	19	1009365	1009365	T	A	snp	nonsynonymous SNV	T2896A	Y966N	aromatic,polar,hydrophobic	polar,hydrophilic,neutral	GRIN3B	Grin3b	ENSG00000116032	glutamate ionotropic receptor NMDA type subunit 3B	chr19:1000418-1009731	The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]	Psychiatric Disorders; Alzheimer's disease ; Weight Gain	Mice homozygous for a null allele show a mild impairment in motor learning or coordination, reduced home cage activity, a highly increased social interaction with familiar cagemates in their home cage but moderately increased anxiety-like behavior and reduced social interaction in a new environment.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0051205;protein insertion into membrane;ISS|GO:0051924;regulation of calcium ion transport;ISS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;ISS|GO:0030054;cell junction;IEA|GO:0043025;neuronal cell body;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0016594;glycine binding;ISS|GO:0030594;neurotransmitter receptor activity;ISS|GO:0042165;neurotransmitter binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/GRIN3B	https://www.uniprot.org/uniprot/O60391		https://www.ncbi.nlm.nih.gov/omim/?term=606651	http://www.informatics.jax.org/searchtool/Search.do?query=GRIN3B&submit=Quick%0D%4694ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN3B	rs10417824	0.505591	0.3249	0.5227	0.08	1	12	exonic	exonic	exonic	GRIN3B	GRIN3B	ENSG00000116032	nonsynonymous SNV	nonsynonymous SNV	unknown	GRIN3B:NM_138690:exon9:c.T2896A:p.Y966N,	GRIN3B:uc002lqo.1:exon9:c.T2896A:p.Y966N,	UNKNOWN	Het;T>A	112;7|7	Hom;T>A	497;0|19
N	N	-	19	10112688	10112688	A	G	snp	intronic	 	 	 	 	COL5A3	Col5a3	ENSG00000080573	collagen type V alpha 3 chain	chr19:10070237-10121147	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]		Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;NAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0005518;collagen binding;NAS|GO:0008201;heparin binding;IEA|GO:0043394;proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A3	https://www.uniprot.org/uniprot/P25940		https://www.ncbi.nlm.nih.gov/omim/?term=120216	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A3&submit=Quick%0D%1735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A3	rs2287802	0.383586	0	0	1	0	0	intronic	intronic	intronic	COL5A3	COL5A3	ENSG00000080573	Na	Na	Na	Na	Na	Na	Het;A>G	71;1|3	Hom;A>G	208;0|6
N	N	-	19	10116375	10116375	G	T	snp	synonymous SNV	C453A	A151A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	COL5A3	Col5a3	ENSG00000080573	collagen type V alpha 3 chain	chr19:10070237-10121147	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]		Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;NAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0005518;collagen binding;NAS|GO:0008201;heparin binding;IEA|GO:0043394;proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A3	https://www.uniprot.org/uniprot/P25940		https://www.ncbi.nlm.nih.gov/omim/?term=120216	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A3&submit=Quick%0D%1735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A3	rs2303099	0.508586	0.5304	0.5379	1	0	0	exonic	exonic	exonic	COL5A3	COL5A3	ENSG00000080573	synonymous SNV	synonymous SNV	unknown	COL5A3:NM_015719:exon4:c.C453A:p.A151A,	COL5A3:uc002mmq.1:exon4:c.C453A:p.A151A,	UNKNOWN	Het;G>T	1775;107|87	Hom;G>T	4253;2|166
N	N	-	19	10117024	10117024	C	A	snp	intronic	 	 	 	 	COL5A3	Col5a3	ENSG00000080573	collagen type V alpha 3 chain	chr19:10070237-10121147	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]		Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;NAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0005518;collagen binding;NAS|GO:0008201;heparin binding;IEA|GO:0043394;proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A3	https://www.uniprot.org/uniprot/P25940		https://www.ncbi.nlm.nih.gov/omim/?term=120216	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A3&submit=Quick%0D%1735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A3	rs11085532	0.424321	0	0	1	0	0	intronic	intronic	intronic	COL5A3	COL5A3	ENSG00000080573	Na	Na	Na	Na	Na	Na	Het;C>A	37;4|3	Hom;C>A	139;0|6
N	N	-	19	10179657	10179657	G	A	snp	ncRNA_exonic	 	 	 	 	C3P1																		rs897803	0.494409	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	C3P1	C3P1	ENSG00000167798	Na	Na	Na	Na	Na	Na	Het;G>A	657;30|35	Hom;G>A	1414;2|59
N	N	-	19	10181347	10181347	A	G	snp	ncRNA_exonic	 	 	 	 	C3P1																		rs12610576	0.461661	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	C3P1	C3P1	ENSG00000167798	Na	Na	Na	Na	Na	Na	Het;A>G	778;46|39	Hom;A>G	2043;0|77
N	N	-	19	10183554	10183554	G	C	snp	ncRNA_intronic	 	 	 	 	C3P1																		rs8112953	0.462061	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	C3P1	C3P1	ENSG00000167798	Na	Na	Na	Na	Na	Na	Het;G>C	191;8|9	Hom;G>C	742;0|21
N	N	-	19	10227204	10227204	T	C	snp	intronic	 	 	 	 	EIF3G	Eif3g	ENSG00000130811	eukaryotic translation initiation factor 3 subunit G	chr19:10225693-10230596	This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]		 	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3G	https://www.uniprot.org/uniprot/O75821		https://www.ncbi.nlm.nih.gov/omim/?term=603913	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G	rs3826786	0.146565	0	0	1	0	0	intronic	intronic	intronic	EIF3G	EIF3G	ENSG00000130811	Na	Na	Na	Na	Na	Na	Het;T>C	68;2|3	Hom;T>C	106;1|4
N	N	-	19	10262651	10262651	C	T	snp	intronic	 	 	 	 	DNMT1	Dnmt1	ENSG00000130816	DNA methyltransferase 1	chr19:10244021-10341962	This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	subtelomeric hypomethylation; arsnic exposure; colorectal cancer; hunger and satiety; Stomach Neoplasms; benzo[a]pyrene diol epoxide; breast cancer ; epithelial ovarian cancer ; Spinal Dysraphism; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; lupus erythematosus	Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP	GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IEA|GO:0005721;pericentric heterochromatin;IEA	GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IEA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008327;methyl-CpG binding;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT1	https://www.uniprot.org/uniprot/P26358	https://hpo.jax.org/app/browse/search?q=DNMT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126375	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT1&submit=Quick%0D%142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT1	rs1863771	0.154353	0	0	1	0	0	intronic	intronic	intronic	DNMT1	DNMT1	ENSG00000130816	Na	Na	Na	Na	Na	Na	Het;C>T	31;2|2	Hom;C>T	106;0|4
N	N	-	19	10270746	10270747	GA	G	indel	intronic	 	 	 	 	DNMT1	Dnmt1	ENSG00000130816	DNA methyltransferase 1	chr19:10244021-10341962	This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	subtelomeric hypomethylation; arsnic exposure; colorectal cancer; hunger and satiety; Stomach Neoplasms; benzo[a]pyrene diol epoxide; breast cancer ; epithelial ovarian cancer ; Spinal Dysraphism; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; lupus erythematosus	Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP	GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IEA|GO:0005721;pericentric heterochromatin;IEA	GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IEA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008327;methyl-CpG binding;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT1	https://www.uniprot.org/uniprot/P26358	https://hpo.jax.org/app/browse/search?q=DNMT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126375	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT1&submit=Quick%0D%142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT1	rs3079962	0.579473	0	0.6388	1	0	0	intronic	intronic	intronic	DNMT1	DNMT1	ENSG00000130816	Na	Na	Na	Na	Na	Na	Het;-A	281;21|19	Hom;-A	1401;4|64
N	N	-	19	10395683	10395683	A	G	snp	nonsynonymous SNV	A1405G	K469E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	ICAM1	Icam1	ENSG00000090339	intercellular adhesion molecule 1	chr19:10381511-10397291	This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]	transplant associated vasculopathy after cardiac transplantation; Brain Ischemia|Stroke; Migraine Disorders; cerebrovascular disease; sickle cell anemia; inflammatory bowel disease ; Graves Disease|Graves' Disease; Intercellular Adhesion Molecule-1; myocardial infarct; hematology indices; coronary heart disease; myocardial infarction; diabetes, type 1 diabetic nephropathy; Arthritis, Rheumatoid|Rheumatoid Arthritis; arthritis, rheumatoid; erythema nodosum; Atherosclerosis; Coronary Artery Disease|; Erythema Nodosum|Sarcoidosis; Alzheimer's disease; Parkinson's disease; celiac disease; Arthritis, Rheumatoid; Behcets disease; Lymphoma, Large B-Cell, Diffuse; lung cancer; atherosclerosis, coronary; diabetes, type 1; null; bone density; benzene haematotoxicity; asthma; melanoma|Skin Neoplasms; Glomerulonephritis, IGA; colorectal cancer; multiple sclerosis; Malaria, Falciparum; Hypercholesterolemia|LDLC levels; Chronic renal failure|Kidney Failure, Chronic; Angina Pectoris; giant cell arteritis; graves' ophthalmopathy; Premature Birth; breast cancer ; Bleeding After Cardiac Surgery; Amyotrophic Lateral Sclerosis|; Alzheimer's disease; Vertebral Artery Dissection; arthritis; respiratory syncytial virus; esophageal cancer; atherosclerosis; Behcet Syndrome; Cardiovascular Diseases|Thrombosis; Arterial Occlusive Diseases; Hepatitis C|Remission, Spontaneous; Crohn's disease ulcerative colitis; vascular dementia; pancreatitis, chronic; allergies; common cold; Recurrence|Venous Thromboembolism; Peripheral Vascular Diseases; Biliary Atresia; renal allograft rejection; Multiple Sclerosis; Cardiovascular Diseases|; Kidney Failure, Chronic; Insulin Resistance|Metabolic Syndrome X; Inflammation|Venous Thromboembolism; respiratory syncytial virus bronchiolitis; Endometriosis; Coronary Disease|Coronary heart disease; Uveitis, Anterior; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid|; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; inflammatory bowel disease; Astrocytoma; pulse wave velocity; periodontitis; Lymphoma, Non-Hodgkin; renal scarring urinary tract infection; Kidney Diseases; Polymyalgia Rheumatica|Recurrence|Vasculitis; retinopathy, diabetic; Leukemia, Promyelocytic, Acute|Syndrome; Chlamydia Infections|Inflammation|Trachoma; HIV; Albuminuria|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; malaria; Graves' disease; Crohn's disease; ulcerative colitis; Dengue Hemorrhagic Fever; Arterial Occlusive Diseases|Diabetes Complications|Myocardial Infarction|Peripheral Arterial Disease|Peripheral Arterial Diseases; polymyalgia rheumatica/giant cell arteritis; chronic obstructive pulmonary disease; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Restenosis; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Adult Respiratory Distress Syndrome|Community-Acquired Infections|Pneumonia|Respiratory Distress Syndrome, Adult|Septic Shock|Shock, Septic; schizophrenia; soluble ICAM-1; gastroschisis; Gastrointestinal Hemorrhage|Henoch-Schoenlein Purpura|Kidney Diseases|Purpura, Schoenlein-Henoch|Vasculitis; Q fever; Pseudoxanthoma Elasticum; TPA-induced apoptosis; Thrombosis; restenosis; Type 2 diabetes; Coronary Artery Disease|Inflammation; bladder cancer; stroke, ischemic; Myocardial Infarction; Coronary Disease; Acute Coronary Syndrome|; Leukemia, Lymphocytic, Chronic, B-Cell; Cholangitis, Sclerosing; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Diabetes Mellitus, Type 1|Diabetic Nephropathies|; Stroke; bone marrow transplantation; Atherosclerosis|Obesity; Multiple Myeloma; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Alzheimer's Disease; Crohn's disease; Malaria; thrombosis, venous; Alzheimer's disease ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy; dementia, vascular; coronary heart disease, transplant associated; cholangitis, sclerosing; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Fibrosis|Hepatitis B, Chronic; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; malignant melanoma; prostate cancer; Meningeal Neoplasms|meningioma; lung cancer ; epithelial ovarian cancer ; Type 2 Diabetes| edema | rosiglitazone; multiple system atrophy; Biliary Atresia|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Brain Ischemia|Inflammation|Stroke; diabetes, type 2; endometriosis; Cardiovascular Diseases; Coronary Artery Disease|Myocardial Infarction	Homozygous mutation of this gene results in impaired inflammatory and immune responses.	Interferon gamma signaling	GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001910;regulation of leukocyte mediated cytotoxicity;TAS|GO:0001975;response to amphetamine;IEA|GO:0002291;T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;IMP|GO:0002438;acute inflammatory response to antigenic stimulus;IEA|GO:0002457;T cell antigen processing and presentation;IEA|GO:0002693;positive regulation of cellular extravasation;IMP|GO:0007155;cell adhesion;IDA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;TAS|GO:0007159;leukocyte cell-cell adhesion;IMP|GO:0007569;cell aging;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010477;response to sulfur dioxide;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016032;viral process;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022614;membrane to membrane docking;IEP|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031669;cellular response to nutrient levels;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0034698;response to gonadotropin;IEA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044406;adhesion of symbiont to host;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045471;response to ethanol;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0046688;response to copper ion;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046813;receptor-mediated virion attachment to host cell;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;IEP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051926;negative regulation of calcium ion transport;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0061028;establishment of endothelial barrier;IGI|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071346;cellular response to interferon-gamma;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090557;establishment of endothelial intestinal barrier;IEA|GO:0097368;establishment of Sertoli cell barrier;IEA|GO:1900027;regulation of ruffle assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1904996;positive regulation of leukocyte adhesion to vascular endothelial cell;IEA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA	GO:0001772;immunological synapse;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005178;integrin binding;IDA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ICAM1	https://www.uniprot.org/uniprot/P05362		https://www.ncbi.nlm.nih.gov/omim/?term=147840	http://www.informatics.jax.org/searchtool/Search.do?query=ICAM1&submit=Quick%0D%2094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM1	rs5498	0.358826	0.3504	0.4281	0.08	1	13	exonic	exonic	exonic	ICAM1	ICAM1	ENSG00000090339	nonsynonymous SNV	nonsynonymous SNV	unknown	ICAM1:NM_000201:exon6:c.A1405G:p.K469E,	ICAM1:uc002mnq.2:exon6:c.A1405G:p.K469E,ICAM1:uc010xle.1:exon4:c.A739G:p.K247E,	UNKNOWN	Het;A>G	1367;87|68	Hom;A>G	3148;0|120
N	N	-	19	10654463	10654463	A	G	snp	upstream	 	 	 	 	ATG4D	Atg4d	ENSG00000130734	autophagy related 4D cysteine peptidase	chr19:10654571-10664094	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 	Macroautophagy	GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IEA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0044804;nucleophagy;IBA|GO:0051697;protein delipidation;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;IBA	GO:0004197;cysteine-type endopeptidase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4D	https://www.uniprot.org/uniprot/Q86TL0		https://www.ncbi.nlm.nih.gov/omim/?term=611340	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4D&submit=Quick%0D%6430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4D	rs7258433	0.689097	0	0	1	0	0	upstream	upstream	upstream	ATG4D	ATG4D	ENSG00000130734	Na	Na	Na	Na	Na	Na	Het;A>G	131;7|6	Hom;A>G	125;0|5
N	N	-	19	10665691	10665691	T	C	snp	intronic	 	 	 	 	KRI1	Kri1	ENSG00000129347	KRI1 homolog	chr19:10663761-10676713	This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]	Celiac Disease|; Waist Circumference	 		GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA	GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KRI1	https://www.uniprot.org/uniprot/Q8N9T8			http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1	rs10419405	0.690096	0	0	1	0	0	intronic	intronic	intronic	KRI1	KRI1	ENSG00000129347	Na	Na	Na	Na	Na	Na	Het;T>C	368;8|10	Hom;T>C	360;0|9
N	N	-	19	10665912	10665912	C	CCCGCCCTGCCCGCAGCGCACCTGGCT	indel	intronic	 	 	 	 	KRI1	Kri1	ENSG00000129347	KRI1 homolog	chr19:10663761-10676713	This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]	Celiac Disease|; Waist Circumference	 		GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA	GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KRI1	https://www.uniprot.org/uniprot/Q8N9T8			http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1	rs6146467	0.646765	0	0.6800	1	0	0	intronic	intronic	intronic	KRI1	KRI1	ENSG00000129347	Na	Na	Na	Na	Na	Na	Het;+CCGCCCTGCCCGCAGCGCACCTGGCT	1249;46|38	Hom;+CCGCCCTGCCCGCAGCGCACCTGGCT	3806;2|99
N	N	-	19	10668452	10668452	A	G	snp	synonymous SNV	T1497C	F499F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	KRI1	Kri1	ENSG00000129347	KRI1 homolog	chr19:10663761-10676713	This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]	Celiac Disease|; Waist Circumference	 		GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA	GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KRI1	https://www.uniprot.org/uniprot/Q8N9T8			http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1	rs3745255	0.69389	0.5972	0.6943	1	0	0	exonic	exonic	exonic	KRI1	KRI1	ENSG00000129347	synonymous SNV	synonymous SNV	unknown	KRI1:NM_023008:exon15:c.T1497C:p.F499F,	KRI1:uc002moy.1:exon15:c.T1497C:p.F499F,KRI1:uc002mox.1:exon14:c.T1485C:p.F495F,KRI1:uc002mow.1:exon6:c.T354C:p.F118F,	UNKNOWN	Het;A>G	1206;62|55	Hom;A>G	2900;0|97
N	N	-	19	10738639	10738639	C	T	snp	synonymous SNV	C204T	D68D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs3087969	0.786542	0.8047	0.7932	1	0	0	exonic	exonic	exonic	SLC44A2	SLC44A2	ENSG00000129353	synonymous SNV	synonymous SNV	unknown	SLC44A2:NM_001145056:exon4:c.C198T:p.D66D,SLC44A2:NM_020428:exon4:c.C204T:p.D68D,	SLC44A2:uc002mpf.3:exon4:c.C204T:p.D68D,SLC44A2:uc002mpe.4:exon4:c.C198T:p.D66D,	UNKNOWN	Het;C>T	579;59|32	Hom;C>T	2335;0|93
N	N	-	19	10741681	10741681	C	CA	indel	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs397949403	0.463858	0	0	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;+A	141;12|10	Hom;+A	170;2|8
N	N	-	19	10741907	10741907	A	G	snp	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs12972963	0.786342	0.8046	0.7938	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;A>G	368;4|15	Hom;A>G	820;0|27
N	N	-	19	10742170	10742170	A	G	snp	nonsynonymous SNV	A455G	Q152R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs2288904	0.817292	0.8365	0.8041	0.15	2	13	exonic	exonic	exonic	SLC44A2	SLC44A2	ENSG00000129353	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC44A2:NM_001145056:exon7:c.A455G:p.Q152R,SLC44A2:NM_020428:exon7:c.A461G:p.Q154R,	SLC44A2:uc002mpf.3:exon7:c.A461G:p.Q154R,SLC44A2:uc002mpe.4:exon7:c.A455G:p.Q152R,	UNKNOWN	Het;A>G	1230;56|55	Hom;A>G	2730;0|100
N	N	-	19	10742287	10742287	C	T	snp	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs1560711	0.790735	0.8068	0.7935	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;C>T	1310;74|62	Hom;C>T	3718;1|138
N	N	-	19	10742443	10742443	C	T	snp	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs1560710	0.788938	0.8067	0.7942	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;C>T	577;44|28	Hom;C>T	2498;1|95
N	N	-	19	10742463	10742463	G	T	snp	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs1560709	0.789137	0.8069	0.7941	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;G>T	500;33|25	Hom;G>T	2114;1|77
N	N	-	19	10745764	10745764	T	C	snp	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs2163832	0.770767	0.7514	0.7263	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;T>C	2315;131|107	Hom;T>C	6333;2|233
N	N	-	19	10748820	10748820	T	C	snp	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs3859514	0.677716	0.6716	0.6758	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;T>C	742;36|33	Hom;T>C	1796;0|58
N	N	-	19	10752968	10752968	A	G	snp	intronic	 	 	 	 	SLC44A2	Slc44a2	ENSG00000129353	solute carrier family 44 member 2	chr19:10713133-10755235			Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss.	Neutrophil degranulation	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2	https://www.uniprot.org/uniprot/Q8IWA5		https://www.ncbi.nlm.nih.gov/omim/?term=606106	http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2	rs10405617	0.774361	0	0	1	0	0	intronic	intronic	intronic	SLC44A2	SLC44A2	ENSG00000129353	Na	Na	Na	Na	Na	Na	Het;A>G	447;12|18	Hom;A>G	776;0|26
N	N	-	19	10764203	10764203	G	T	snp	ncRNA_exonic	 	 	 	 	ILF3-AS1																		rs4804514	0.663139	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ILF3-AS1	ILF3-AS1	ENSG00000267100	Na	Na	Na	Na	Na	Na	Het;G>T	1248;62|56	Hom;G>T	2725;0|99
N	N	-	19	10787744	10787744	C	G	snp	intronic	 	 	 	 	ILF3	Ilf3	ENSG00000129351	interleukin enhancer binding factor 3	chr19:10764937-10803093	This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IDA|GO:0017148;negative regulation of translation;ISS|GO:0045071;negative regulation of viral genome replication;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051607;defense response to virus;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ILF3	https://www.uniprot.org/uniprot/Q12906		https://www.ncbi.nlm.nih.gov/omim/?term=603182	http://www.informatics.jax.org/searchtool/Search.do?query=ILF3&submit=Quick%0D%6242ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF3	rs1982075	0.775759	0	0	1	0	0	intronic	intronic	intronic	ILF3	ILF3	ENSG00000129351	Na	Na	Na	Na	Na	Na	Het;C>G	226;12|11	Hom;C>G	423;0|14
N	N	-	19	10793749	10793749	A	G	snp	intronic	 	 	 	 	ILF3	Ilf3	ENSG00000129351	interleukin enhancer binding factor 3	chr19:10764937-10803093	This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IDA|GO:0017148;negative regulation of translation;ISS|GO:0045071;negative regulation of viral genome replication;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051607;defense response to virus;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ILF3	https://www.uniprot.org/uniprot/Q12906		https://www.ncbi.nlm.nih.gov/omim/?term=603182	http://www.informatics.jax.org/searchtool/Search.do?query=ILF3&submit=Quick%0D%6242ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF3	rs2738039	0.76857	0	0	1	0	0	intronic	intronic	intronic	ILF3	ILF3	ENSG00000129351	Na	Na	Na	Na	Na	Na	Het;A>G	904;32|40	Hom;A>G	1392;0|45
N	N	-	19	10794630	10794630	G	T	snp	synonymous SNV	G2055T	S685S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ILF3	Ilf3	ENSG00000129351	interleukin enhancer binding factor 3	chr19:10764937-10803093	This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IDA|GO:0017148;negative regulation of translation;ISS|GO:0045071;negative regulation of viral genome replication;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051607;defense response to virus;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ILF3	https://www.uniprot.org/uniprot/Q12906		https://www.ncbi.nlm.nih.gov/omim/?term=603182	http://www.informatics.jax.org/searchtool/Search.do?query=ILF3&submit=Quick%0D%6242ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF3	rs2229383	0.663738	0.6597	0.6731	1	0	0	exonic	exonic	exonic	ILF3	ILF3	ENSG00000129351	synonymous SNV	synonymous SNV	unknown	ILF3:NM_004516:exon17:c.G2043T:p.S681S,ILF3:NM_012218:exon17:c.G2043T:p.S681S,ILF3:NM_017620:exon17:c.G2055T:p.S685S,ILF3:NM_001137673:exon17:c.G2055T:p.S685S,ILF3:NM_153464:exon17:c.G2043T:p.S681S,	ILF3:uc002mpm.2:exon17:c.G2055T:p.S685S,ILF3:uc002mpp.3:exon13:c.G1518T:p.S506S,ILF3:uc002mpk.2:exon17:c.G2043T:p.S681S,ILF3:uc002mpn.3:exon17:c.G2043T:p.S681S,ILF3:uc010xli.1:exon9:c.G837T:p.S279S,ILF3:uc002mpl.2:exon17:c.G2043T:p.S681S,ILF3:uc002mpo.3:exon17:c.G2055T:p.S685S,	UNKNOWN	Het;G>T	1776;97|85	Hom;G>T	3774;2|141
N	N	-	19	10794793	10794793	C	T	snp	UTR3	*121C>T	 	 	 	ILF3	Ilf3	ENSG00000129351	interleukin enhancer binding factor 3	chr19:10764937-10803093	This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IDA|GO:0017148;negative regulation of translation;ISS|GO:0045071;negative regulation of viral genome replication;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051607;defense response to virus;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ILF3	https://www.uniprot.org/uniprot/Q12906		https://www.ncbi.nlm.nih.gov/omim/?term=603182	http://www.informatics.jax.org/searchtool/Search.do?query=ILF3&submit=Quick%0D%6242ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF3	rs892087	0.572484	0	0	1	0	0	intronic	UTR3	UTR3	ILF3	ILF3(uc002mpp.3:c.*121C>T)	ENSG00000129351(ENST00000592763:c.*121C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	114;5|5	Hom;C>T	457;0|15
N	N	-	19	10799750	10799750	T	C	snp	intronic	 	 	 	 	ILF3	Ilf3	ENSG00000129351	interleukin enhancer binding factor 3	chr19:10764937-10803093	This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IDA|GO:0017148;negative regulation of translation;ISS|GO:0045071;negative regulation of viral genome replication;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051607;defense response to virus;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ILF3	https://www.uniprot.org/uniprot/Q12906		https://www.ncbi.nlm.nih.gov/omim/?term=603182	http://www.informatics.jax.org/searchtool/Search.do?query=ILF3&submit=Quick%0D%6242ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF3	rs2742313	0.678115	0	0	1	0	0	intronic	intronic	intronic	ILF3	ILF3	ENSG00000129351	Na	Na	Na	Na	Na	Na	Het;T>C	687;26|24	Hom;T>C	1709;0|52
N	N	-	19	10818092	10818092	G	A	snp	intronic	 	 	 	 	QTRT1	Qtrt1	ENSG00000213339	queuine tRNA-ribosyltransferase catalytic subunit 1	chr19:10812106-10824113	This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]		Mice heterozygous or homozygous for a gene trap allele exhibit reduced phenylalanine conversion to tyrosine and reduced cell levels of queuosine-modified tRNA.	tRNA modification in the nucleus and cytosol	GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0008616;queuosine biosynthetic process;IEA|GO:0101030;tRNA-guanine transglycosylation;NAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA	GO:0008479;queuine tRNA-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016763;transferase activity, transferring pentosyl groups;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/QTRT1			https://www.ncbi.nlm.nih.gov/omim/?term=609615	http://www.informatics.jax.org/searchtool/Search.do?query=QTRT1&submit=Quick%0D%18113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QTRT1	rs892085	0.554912	0.6003	0.5720	1	0	0	intronic	intronic	intronic	QTRT1	QTRT1	ENSG00000213339	Na	Na	Na	Na	Na	Na	Het;G>A	1599;61|74	Hom;G>A	2635;0|95
N	N	-	19	10883126	10883126	C	G	snp	intronic	 	 	 	 	DNM2	Dnm2	ENSG00000079805	dynamin 2	chr19:10828755-10944164	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]	Bulimia; Coronary Disease; Alzheimer's disease; breast cancer; Lipoproteins, LDL	Mice homozygous for a targeted allele die prior to E8-E12. Mice heterozygous for a knock-out allele exhibit muscle atrophy and weakness, intermyofibrillar disorganization, and centrally localized mitochondria and sarcoplasmic reticulum.	Clathrin-mediated endocytosis	GO:0000086;G2/M transition of mitotic cell cycle;NAS|GO:0000266;mitochondrial fission;IBA|GO:0002031;G-protein coupled receptor internalization;IEA|GO:0003281;ventricular septum development;IEA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;ISS|GO:0006909;phagocytosis;IEA|GO:0007165;signal transduction;NAS|GO:0007283;spermatogenesis;IEA|GO:0009416;response to light stimulus;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030516;regulation of axon extension;ISS|GO:0031623;receptor internalization;IMP|GO:0033572;transferrin transport;IMP|GO:0035020;regulation of Rac protein signal transduction;IEA|GO:0035904;aorta development;IEA|GO:0042220;response to cocaine;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0044351;macropinocytosis;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045807;positive regulation of endocytosis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0048489;synaptic vesicle transport;NAS|GO:0048812;neuron projection morphogenesis;ISS|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;IBA|GO:0071245;cellular response to carbon monoxide;IEA|GO:0071481;cellular response to X-ray;IEA|GO:0071732;cellular response to nitric oxide;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA|GO:1902856;negative regulation of non-motile cilium assembly;IEA|GO:1903351;cellular response to dopamine;IEA|GO:1903358;regulation of Golgi organization;IEA|GO:1903408;positive regulation of sodium:potassium-exchanging ATPase activity;IEA|GO:1903526;negative regulation of membrane tubulation;IDA	GO:0000139;Golgi membrane;TAS|GO:0001891;phagocytic cup;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005813;centrosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;ISS|GO:0030496;midbody;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IDA|GO:0045334;clathrin-coated endocytic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IDA|GO:0019899;enzyme binding;NAS|GO:0019901;protein kinase binding;IEA|GO:0031749;D2 dopamine receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;IEA|GO:0050699;WW domain binding;IEA|GO:0050998;nitric-oxide synthase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNM2	https://www.uniprot.org/uniprot/P50570	https://hpo.jax.org/app/browse/search?q=DNM2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602378	http://www.informatics.jax.org/searchtool/Search.do?query=DNM2&submit=Quick%0D%1712ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM2	rs3826803	0.557109	0.5664	0.5528	1	0	0	intronic	intronic	intronic	DNM2	DNM2	ENSG00000079805	Na	Na	Na	Na	Na	Na	Het;C>G	374;21|19	Hom;C>G	1660;0|54
N	N	-	19	11230650	11230654	GAAAC	G	indel	intronic	 	 	 	 	LDLR	Ldlr	ENSG00000130164	low density lipoprotein receptor	chr19:11200038-11244492	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]	Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke	Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis.	Retinoid metabolism and transport	GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA	GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLR	https://www.uniprot.org/uniprot/P01130	https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606945	http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR	rs140888317	0	0	0	1	0	0	intronic	intronic	intronic	LDLR	LDLR	ENSG00000130164	Na	Na	Na	Na	Na	Na	Het;-AAAC	491;6|13	Hom;-AAAC	818;0|19
N	N	-	19	11238548	11238548	A	G	snp	intronic	 	 	 	 	LDLR	Ldlr	ENSG00000130164	low density lipoprotein receptor	chr19:11200038-11244492	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]	Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke	Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis.	Retinoid metabolism and transport	GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA	GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLR	https://www.uniprot.org/uniprot/P01130	https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606945	http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR	rs2569538	0.856629	0	0	1	0	0	intronic	intronic	intronic	LDLR	LDLR	ENSG00000130164	Na	Na	Na	Na	Na	Na	Het;A>G	486;17|21	Hom;A>G	895;0|32
N	N	-	19	11242307	11242307	G	C	snp	UTR3	*315G>C	 	 	 	LDLR	Ldlr	ENSG00000130164	low density lipoprotein receptor	chr19:11200038-11244492	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]	Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke	Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis.	Retinoid metabolism and transport	GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA	GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLR	https://www.uniprot.org/uniprot/P01130	https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606945	http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR	rs2738464	0.751997	0	0.8424	1	0	0	UTR3	UTR3	UTR3	LDLR(NM_001195798:c.*315G>C,NM_001195803:c.*315G>C,NM_001195800:c.*315G>C,NM_000527:c.*315G>C,NM_001195799:c.*315G>C)	LDLR(uc010xlk.2:c.*315G>C,uc002mqk.4:c.*315G>C,uc010xll.2:c.*315G>C,uc021upc.1:c.*315G>C,uc010xln.2:c.*315G>C,uc010xlo.2:c.*315G>C,uc010xlm.2:c.*315G>C,uc021upd.1:c.*315G>C,uc010dxu.3:c.*113G>C)	ENSG00000130164(ENST00000558518:c.*315G>C,ENST00000558013:c.*315G>C,ENST00000252444:c.*315G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1221;37|55	Hom;G>C	2202;0|77
N	N	-	19	11244187	11244189	TTA	T	indel	UTR3	*2195_*2197delinsT	 	 	 	LDLR	Ldlr	ENSG00000130164	low density lipoprotein receptor	chr19:11200038-11244492	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]	Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke	Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis.	Retinoid metabolism and transport	GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA	GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLR	https://www.uniprot.org/uniprot/P01130	https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606945	http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR	rs142742959	0.873602	0	0	1	0	0	UTR3	UTR3	UTR3	LDLR(NM_001195798:c.*2195_*2197delinsT,NM_001195803:c.*2195_*2197delinsT,NM_001195800:c.*2195_*2197delinsT,NM_000527:c.*2195_*2197delinsT,NM_001195799:c.*2195_*2197delinsT)	LDLR(uc010xlk.2:c.*2195_*2197delinsT,uc002mqk.4:c.*2195_*2197delinsT,uc010xll.2:c.*2195_*2197delinsT,uc021upc.1:c.*2195_*2197delinsT,uc010xln.2:c.*2195_*2197delinsT,uc010xlo.2:c.*2195_*2197delinsT,uc010xlm.2:c.*2195_*2197delinsT,uc021upd.1:c.*2195_*2197delinsT,uc010dxu.3:c.*1993_*1995delinsT)	ENSG00000130164(ENST00000252444:c.*2195_*2197delinsT)	Na	Na	Na	Na	Na	Na	Het;-TA	882;23|30	Hom;-TA	1044;2|32
N	N	-	19	11324890	11324890	T	C	snp	ncRNA_intronic	 	 	 	 	AC011472.1																		rs12609620	0.59345	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DOCK6	DOCK6	ENSG00000267082	Na	Na	Na	Na	Na	Na	Het;T>C	580;24|23	Hom;T>C	1101;0|37
N	N	-	19	11327608	11327608	T	C	snp	synonymous SNV	A3876G	L1292L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DOCK6	Dock6	ENSG00000130158	dedicator of cytokinesis 6	chr19:11309971-11373157	This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]	Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK6	https://www.uniprot.org/uniprot/Q96HP0	https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614194	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6	rs4804151	0.59345	0.6804	0.6476	1	0	0	exonic	exonic	exonic	DOCK6	DOCK6	ENSG00000130158	synonymous SNV	synonymous SNV	unknown	DOCK6:NM_020812:exon30:c.A3876G:p.L1292L,	DOCK6:uc002mqs.5:exon30:c.A3876G:p.L1292L,DOCK6:uc010xlq.3:exon16:c.A1893G:p.L631L,	UNKNOWN	Het;T>C	1100;52|31	Hom;T>C	5005;0|113
N	N	-	19	11327626	11327626	A	G	snp	synonymous SNV	T3858C	D1286D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	DOCK6	Dock6	ENSG00000130158	dedicator of cytokinesis 6	chr19:11309971-11373157	This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]	Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK6	https://www.uniprot.org/uniprot/Q96HP0	https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614194	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6	rs4804152	0.579473	0.6632	0.6436	1	0	0	exonic	exonic	exonic	DOCK6	DOCK6	ENSG00000130158	synonymous SNV	synonymous SNV	unknown	DOCK6:NM_020812:exon30:c.T3858C:p.D1286D,	DOCK6:uc002mqs.5:exon30:c.T3858C:p.D1286D,DOCK6:uc010xlq.3:exon16:c.T1875C:p.D625D,	UNKNOWN	Het;A>G	1303;61|41	Hom;A>G	6009;0|145
N	N	-	19	11358700	11358700	T	C	snp	intronic	 	 	 	 	DOCK6	Dock6	ENSG00000130158	dedicator of cytokinesis 6	chr19:11309971-11373157	This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]	Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL	 	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK6	https://www.uniprot.org/uniprot/Q96HP0	https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614194	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6	rs4804579	0.232428	0.2156	0.2278	1	0	0	intronic	intronic	intronic	DOCK6	DOCK6	ENSG00000130158	Na	Na	Na	Na	Na	Na	Het;T>C	271;15|15	Hom;T>C	800;0|30
N	N	-	19	11406839	11406839	C	G	snp	UTR5	-135C>G	 	 	 	TSPAN16	 	ENSG00000130167	tetraspanin 16	chr19:11406824-11437672	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries.		GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16	https://www.uniprot.org/uniprot/Q9UKR8			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16	rs453766	0.259385	0	0	1	0	0	UTR5	UTR5	UTR5	TSPAN16(NM_001282510:c.-135C>G,NM_001282509:c.-135C>G,NM_012466:c.-135C>G)	TSPAN16(uc002mqv.1:c.-135C>G)	ENSG00000130167(ENST00000316737:c.-135C>G,ENST00000592955:c.-135C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	224;19|10	Hom;C>G	1038;0|35
N	N	-	19	11406952	11406952	A	G	snp	UTR5	-22A>G	 	 	 	TSPAN16	 	ENSG00000130167	tetraspanin 16	chr19:11406824-11437672	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries.		GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16	https://www.uniprot.org/uniprot/Q9UKR8			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16	rs374409	0.45028	0.4646	0.3576	1	0	0	UTR5	UTR5	UTR5	TSPAN16(NM_001282510:c.-22A>G,NM_001282509:c.-22A>G,NM_012466:c.-22A>G)	TSPAN16(uc002mqv.1:c.-22A>G)	ENSG00000130167(ENST00000316737:c.-22A>G,ENST00000592955:c.-22A>G,ENST00000590327:c.-22A>G,ENST00000337994:c.-22A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	720;49|38	Hom;A>G	2211;0|84
N	N	-	19	11409061	11409061	C	T	snp	intronic	 	 	 	 	TSPAN16	 	ENSG00000130167	tetraspanin 16	chr19:11406824-11437672	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries.		GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16	https://www.uniprot.org/uniprot/Q9UKR8			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16	rs377665	0.416334	0.4254	0.3539	1	0	0	intronic	intronic	intronic	TSPAN16	TSPAN16	ENSG00000130167	Na	Na	Na	Na	Na	Na	Het;C>T	399;37|20	Hom;C>T	876;0|35
N	N	-	19	11409494	11409494	G	A	snp	intronic	 	 	 	 	TSPAN16	 	ENSG00000130167	tetraspanin 16	chr19:11406824-11437672	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries.		GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16	https://www.uniprot.org/uniprot/Q9UKR8			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16	rs423304	0.415535	0	0	1	0	0	intronic	intronic	intronic	TSPAN16	TSPAN16	ENSG00000130167	Na	Na	Na	Na	Na	Na	Het;G>A	310;30|17	Hom;G>A	1142;0|40
N	N	-	19	11409684	11409684	A	G	snp	intronic	 	 	 	 	TSPAN16	 	ENSG00000130167	tetraspanin 16	chr19:11406824-11437672	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries.		GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16	https://www.uniprot.org/uniprot/Q9UKR8			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16	rs422496	0.466054	0.4628	0	1	0	0	intronic	intronic	intronic	TSPAN16	TSPAN16	ENSG00000130167	Na	Na	Na	Na	Na	Na	Het;A>G	490;18|20	Hom;A>G	719;2|22
N	N	-	19	11411744	11411744	G	A	snp	ncRNA_exonic	 	 	 	 	AC011472.2																		rs397707	0.413938	0	0	1	0	0	intronic	UTR3	ncRNA_exonic	TSPAN16	AF161365(uc002mqw.2:c.*60C>T)	ENSG00000267174	Na	Na	Na	Na	Na	Na	Het;G>A	91;3|4	Hom;G>A	104;0|4
N	N	-	19	11411868	11411868	C	A	snp	nonsynonymous SNV	G179T	R60I	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	AF161365																		rs420703	0.456869	0.4653	0.3637	1	0	0	intronic	exonic	ncRNA_exonic	TSPAN16	AF161365	ENSG00000267174	Na	nonsynonymous SNV	Na	Na	AF161365:uc002mqw.2:exon3:c.G179T:p.R60I,	Na	Het;C>A	900;34|45	Hom;C>A	2255;1|87
N	N	-	19	11417200	11417200	C	T	snp	ncRNA_intronic	 	 	 	 	AC011472.2																		rs322151	0.264177	0	0.2712	1	0	0	intronic	intronic	ncRNA_intronic	TSPAN16	AF161365,TSPAN16	ENSG00000267174	Na	Na	Na	Na	Na	Na	Het;C>T	112;12|6	Hom;C>T	462;0|15
N	N	-	19	11426639	11426639	C	A	snp	UTR3	*125C>A	 	 	 	TSPAN16	 	ENSG00000130167	tetraspanin 16	chr19:11406824-11437672	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]		Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries.		GO:0007166;cell surface receptor signaling pathway;IBA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16	https://www.uniprot.org/uniprot/Q9UKR8			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16	rs322141	0.634385	0	0	1	0	0	UTR3	intronic	ncRNA_intronic	TSPAN16(NM_001282510:c.*125C>A,NM_001282509:c.*125C>A)	AF161365,TSPAN16	ENSG00000267174	Na	Na	Na	Na	Na	Na	Het;C>A	233;30|15	Hom;C>A	1113;0|41
N	N	-	19	11526759	11526759	G	A	snp	nonsynonymous SNV	C491T	A164V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RGL3	Rgl3	ENSG00000205517	ral guanine nucleotide dissociation stimulator like 3	chr19:11495017-11530018		Type 2 Diabetes| edema | rosiglitazone	 		GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008321;Ral guanyl-nucleotide exchange factor activity;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0031267;small GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RGL3			https://www.ncbi.nlm.nih.gov/omim/?term=616743	http://www.informatics.jax.org/searchtool/Search.do?query=RGL3&submit=Quick%0D%17527ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGL3	rs160838	0.639177	0.6084	0.6067	0.23	3	13	exonic	exonic	exonic	RGL3	RGL3	ENSG00000205517	nonsynonymous SNV	nonsynonymous SNV	unknown	RGL3:NM_001161616:exon5:c.C491T:p.A164V,RGL3:NM_001035223:exon5:c.C491T:p.A164V,	RGL3:uc002mrp.2:exon5:c.C491T:p.A164V,RGL3:uc002mro.2:exon5:c.C491T:p.A164V,	UNKNOWN	Het;G>A	696;21|33	Hom;G>A	1500;0|59
N	N	-	19	11541685	11541685	G	A	snp	intronic	 	 	 	 	CCDC151	Ccdc151	ENSG00000198003	coiled-coil domain containing 151	chr19:11531272-11546603	This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]	Primary cillary dyskineasia	Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. Mice homozygous for a conditional allele activated ubiquitously in adults exhibit reduced sperm number and motility.		GO:0003341;cilium movement;IMP|GO:0007368;determination of left/right symmetry;IMP|GO:0030030;cell projection organization;IEA|GO:0036158;outer dynein arm assembly;IDA|GO:0070286;axonemal dynein complex assembly;IEA|GO:1902017;regulation of cilium assembly;ISS	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC151		https://hpo.jax.org/app/browse/search?q=CCDC151&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615956	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC151&submit=Quick%0D%16783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC151	rs34095	0.360423	0.3676	0.4257	1	0	0	intronic	intronic	intronic	CCDC151	CCDC151	ENSG00000198003	Na	Na	Na	Na	Na	Na	Het;G>A	486;36|24	Hom;G>A	2001;0|78
N	N	-	19	1219274	1219274	G	A	snp	intronic	 	 	 	 	STK11	Stk11	ENSG00000118046	serine/threonine kinase 11	chr19:1189406-1228428	This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]	Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms; Alzheimer's disease ; chronic obstructive pulmonary disease; pancreatic cancer; Peutz-Jegher's syndrome; Peutz-Jeghers syndrome; Polycystic Ovary Syndrome; breast cancer; lung cancer ; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Type 2 diabetes; Peutz-Jeghers syndrome ; bladder cancer; Long QT Syndrome|Torsades de Pointes; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; lung cancer; Alzheimer Disease; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hyperandrogenism|Hyperinsulinism|Insulin Resistance	Targeted heterozygous mutants with one inactivated allele develop benign gastrointestinal polyps.  Homozygous null mutant are embryonic lethal.  Homozygotes for a hypomorphic allele survive and apparently normal, but male mice are infertile.	Regulation of TP53 Activity through Phosphorylation	GO:0001558;regulation of cell growth;ISS|GO:0001894;tissue homeostasis;IEA|GO:0001944;vasculature development;ISS|GO:0006468;protein phosphorylation;TAS|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IBA|GO:0007409;axonogenesis;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010212;response to ionizing radiation;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030010;establishment of cell polarity;ISS|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030308;negative regulation of cell growth;ISS|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0032147;activation of protein kinase activity;IEA|GO:0036399;TCR signalosome assembly;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043276;anoikis;IMP|GO:0045059;positive thymic T cell selection;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048814;regulation of dendrite morphogenesis;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051055;negative regulation of lipid biosynthetic process;IEA|GO:0051645;Golgi localization;IEA|GO:0051896;regulation of protein kinase B signaling;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060770;negative regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0071493;cellular response to UV-B;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IBA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:0097484;dendrite extension;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0036398;TCR signalosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030275;LRR domain binding;IEA|GO:0030295;protein kinase activator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK11	https://www.uniprot.org/uniprot/Q15831	https://hpo.jax.org/app/browse/search?q=STK11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602216	http://www.informatics.jax.org/searchtool/Search.do?query=STK11&submit=Quick%0D%4938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK11	rs34928889	0.530152	0.4236	0.4661	1	0	0	intronic	intronic	intronic	STK11	STK11	ENSG00000118046	Na	Na	Na	Na	Na	Na	Het;G>A	1102;45|52	Hom;G>A	2403;2|92
N	N	-	19	1219553	1219553	G	T	snp	intronic	 	 	 	 	STK11	Stk11	ENSG00000118046	serine/threonine kinase 11	chr19:1189406-1228428	This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]	Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms; Alzheimer's disease ; chronic obstructive pulmonary disease; pancreatic cancer; Peutz-Jegher's syndrome; Peutz-Jeghers syndrome; Polycystic Ovary Syndrome; breast cancer; lung cancer ; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Type 2 diabetes; Peutz-Jeghers syndrome ; bladder cancer; Long QT Syndrome|Torsades de Pointes; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; lung cancer; Alzheimer Disease; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hyperandrogenism|Hyperinsulinism|Insulin Resistance	Targeted heterozygous mutants with one inactivated allele develop benign gastrointestinal polyps.  Homozygous null mutant are embryonic lethal.  Homozygotes for a hypomorphic allele survive and apparently normal, but male mice are infertile.	Regulation of TP53 Activity through Phosphorylation	GO:0001558;regulation of cell growth;ISS|GO:0001894;tissue homeostasis;IEA|GO:0001944;vasculature development;ISS|GO:0006468;protein phosphorylation;TAS|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IBA|GO:0007409;axonogenesis;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010212;response to ionizing radiation;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030010;establishment of cell polarity;ISS|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030308;negative regulation of cell growth;ISS|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0032147;activation of protein kinase activity;IEA|GO:0036399;TCR signalosome assembly;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043276;anoikis;IMP|GO:0045059;positive thymic T cell selection;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048814;regulation of dendrite morphogenesis;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051055;negative regulation of lipid biosynthetic process;IEA|GO:0051645;Golgi localization;IEA|GO:0051896;regulation of protein kinase B signaling;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060770;negative regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0071493;cellular response to UV-B;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IBA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:0097484;dendrite extension;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0036398;TCR signalosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030275;LRR domain binding;IEA|GO:0030295;protein kinase activator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK11	https://www.uniprot.org/uniprot/Q15831	https://hpo.jax.org/app/browse/search?q=STK11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602216	http://www.informatics.jax.org/searchtool/Search.do?query=STK11&submit=Quick%0D%4938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK11	rs11084889	0.648163	0	0	1	0	0	intronic	intronic	intronic	STK11	STK11	ENSG00000118046	Na	Na	Na	Na	Na	Na	Het;G>T	338;11|18	Hom;G>T	656;0|24
N	N	-	19	1228191	1228191	T	C	snp	UTR3	*616T>C	 	 	 	STK11	Stk11	ENSG00000118046	serine/threonine kinase 11	chr19:1189406-1228428	This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]	Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms; Alzheimer's disease ; chronic obstructive pulmonary disease; pancreatic cancer; Peutz-Jegher's syndrome; Peutz-Jeghers syndrome; Polycystic Ovary Syndrome; breast cancer; lung cancer ; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Type 2 diabetes; Peutz-Jeghers syndrome ; bladder cancer; Long QT Syndrome|Torsades de Pointes; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; lung cancer; Alzheimer Disease; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hyperandrogenism|Hyperinsulinism|Insulin Resistance	Targeted heterozygous mutants with one inactivated allele develop benign gastrointestinal polyps.  Homozygous null mutant are embryonic lethal.  Homozygotes for a hypomorphic allele survive and apparently normal, but male mice are infertile.	Regulation of TP53 Activity through Phosphorylation	GO:0001558;regulation of cell growth;ISS|GO:0001894;tissue homeostasis;IEA|GO:0001944;vasculature development;ISS|GO:0006468;protein phosphorylation;TAS|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IBA|GO:0007409;axonogenesis;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010212;response to ionizing radiation;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030010;establishment of cell polarity;ISS|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030308;negative regulation of cell growth;ISS|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0032147;activation of protein kinase activity;IEA|GO:0036399;TCR signalosome assembly;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043276;anoikis;IMP|GO:0045059;positive thymic T cell selection;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048814;regulation of dendrite morphogenesis;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051055;negative regulation of lipid biosynthetic process;IEA|GO:0051645;Golgi localization;IEA|GO:0051896;regulation of protein kinase B signaling;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060770;negative regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0071493;cellular response to UV-B;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IBA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:0097484;dendrite extension;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904262;negative regulation of TORC1 signaling;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0036398;TCR signalosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030275;LRR domain binding;IEA|GO:0030295;protein kinase activator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK11	https://www.uniprot.org/uniprot/Q15831	https://hpo.jax.org/app/browse/search?q=STK11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602216	http://www.informatics.jax.org/searchtool/Search.do?query=STK11&submit=Quick%0D%4938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK11	rs10415095	0.707867	0	0	1	0	0	UTR3	UTR3	UTR3	STK11(NM_000455:c.*616T>C)	STK11(uc002lrl.1:c.*616T>C)	ENSG00000118046(ENST00000326873:c.*616T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	223;11|11	Hom;T>C	428;0|15
N	N	-	19	1231142	1231142	T	C	snp	nonsynonymous SNV	A1112G	H371R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	C19orf26	 																	rs8110590	0.651358	0.5207	0.5551	0.08	1	12	exonic	exonic	exonic	C19orf26	C19orf26	ENSG00000099625	nonsynonymous SNV	nonsynonymous SNV	unknown	C19orf26:NM_152769:exon9:c.A1112G:p.H371R,	C19orf26:uc002lrm.3:exon9:c.A1112G:p.H371R,	UNKNOWN	Het;T>C	1058;60|51	Hom;T>C	2478;0|89
N	N	-	19	1233706	1233706	G	C	snp	intronic	 	 	 	 	C19orf26	 																	rs2890122	0	0	0	1	0	0	intronic	intronic	intronic	C19orf26	C19orf26	ENSG00000099625	Na	Na	Na	Na	Na	Na	Het;G>C	250;15|10	Hom;G>C	682;0|26
N	N	-	19	12691185	12691185	C	T	snp	UTR3	*114G>A	 	 	 	ZNF490	 	ENSG00000188033	zinc finger protein 490	chr19:12688775-12750912		Bipolar Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF490				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF490&submit=Quick%0D%15951ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF490	rs7247513	0.428514	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF490(NM_020714:c.*114G>A)	ZNF490(uc002mtz.2:c.*114G>A)	ENSG00000188033(ENST00000311437:c.*114G>A),ENSG00000269693(ENST00000593682:c.*114G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	243;7|9	Hom;C>T	519;0|16
N	N	-	19	12694089	12694089	T	G	snp	intronic	 	 	 	 	ZNF490	 	ENSG00000188033	zinc finger protein 490	chr19:12688775-12750912		Bipolar Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF490				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF490&submit=Quick%0D%15951ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF490	rs12461643	0.433107	0	0	1	0	0	intronic	intronic	intronic	ZNF490	ZNF490	ENSG00000188033	Na	Na	Na	Na	Na	Na	Het;T>G	39;3|3	Hom;T>G	45;0|2
N	N	-	19	12760287	12760287	A	C	snp	intronic	 	 	 	 	MAN2B1	Man2b1	ENSG00000104774	mannosidase alpha class 2B member 1	chr19:12757325-12777556	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]	longevity	Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation.	Lysosomal oligosaccharide catabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1	https://www.uniprot.org/uniprot/O00754	https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609458	http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1	rs12984441	0.3748	0.5263	0.6656	1	0	0	intronic	intronic	intronic	MAN2B1	MAN2B1	ENSG00000104774	Na	Na	Na	Na	Na	Na	Het;A>C	134;7|6	Hom;A>C	521;0|20
N	N	-	19	12760664	12760664	T	C	snp	intronic	 	 	 	 	MAN2B1	Man2b1	ENSG00000104774	mannosidase alpha class 2B member 1	chr19:12757325-12777556	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]	longevity	Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation.	Lysosomal oligosaccharide catabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1	https://www.uniprot.org/uniprot/O00754	https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609458	http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1	rs3815914	0.519169	0	0	1	0	0	intronic	intronic	intronic	MAN2B1	MAN2B1	ENSG00000104774	Na	Na	Na	Na	Na	Na	Het;T>C	215;16|9	Hom;T>C	436;0|14
N	N	-	19	12768391	12768391	G	A	snp	intronic	 	 	 	 	MAN2B1	Man2b1	ENSG00000104774	mannosidase alpha class 2B member 1	chr19:12757325-12777556	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]	longevity	Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation.	Lysosomal oligosaccharide catabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1	https://www.uniprot.org/uniprot/O00754	https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609458	http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1	rs73002392	0.367812	0.5440	0.5310	1	0	0	intronic	intronic	intronic	MAN2B1	MAN2B1	ENSG00000104774	Na	Na	Na	Na	Na	Na	Het;G>A	440;24|23	Hom;G>A	1985;0|76
N	N	-	19	13010520	13010520	A	G	snp	nonsynonymous SNV	A1250G	Q417R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	GCDH	Gcdh	ENSG00000105607	glutaryl-CoA dehydrogenase	chr19:13001840-13025021	The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]	free glutarate excretion; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; mean corpuscular hemoglobin; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygotes for a targeted null mutation exhibit a mild motor deficit associated with a diffuse spongiform myelinopathy and elevated levels of glutaric acid and 3-hydroxyglutaric acid.	Lysine catabolism	GO:0006554;lysine catabolic process;TAS|GO:0006568;tryptophan metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019395;fatty acid oxidation;IEA|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0046949;fatty-acyl-CoA biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS	GO:0000062;fatty-acyl-CoA binding;IEA|GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0004361;glutaryl-CoA dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCDH	https://www.uniprot.org/uniprot/Q92947	https://hpo.jax.org/app/browse/search?q=GCDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608801	http://www.informatics.jax.org/searchtool/Search.do?query=GCDH&submit=Quick%0D%3338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCDH	rs8012	0.720447	0.6389	0.6130	1	0	0	exonic	exonic	exonic	GCDH	GCDH	ENSG00000105607	nonsynonymous SNV	nonsynonymous SNV	unknown	GCDH:NM_013976:exon12:c.A1250G:p.Q417R,	GCDH:uc002mvp.4:exon12:c.A1250G:p.Q417R,	UNKNOWN	Het;A>G	862;41|39	Hom;A>G	2789;0|96
N	N	-	19	13249223	13249223	C	T	snp	UTR3	*3C>T	 	 	 	NACC1	Nacc1	ENSG00000160877	nucleus accumbens associated 1	chr19:13228917-13251955	This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY CATARACTS FEEDINGDIFFICULTIES AND DELAYED BRAIN MYELINATION	Mice homozygous for a null allele exhibit decreased sensitivity to cocaine and amphetamine. Mice homozygous for a different knock-out allele exhibit thoracic vertebral transformation and loss of the sixth lumbar vertebrae with decreaed rib number and reduced chondrocyte migration.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0051260;protein homooligomerization;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/NACC1		https://hpo.jax.org/app/browse/search?q=NACC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610672	http://www.informatics.jax.org/searchtool/Search.do?query=NACC1&submit=Quick%0D%10524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NACC1	rs45554531	0.00459265	0.0041	0.0076	1	0	0	UTR3	UTR3	UTR3	NACC1(NM_052876:c.*3C>T)	NACC1(uc002mwm.4:c.*3C>T)	ENSG00000160877(ENST00000292431:c.*3C>T,ENST00000585663:c.*3C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	795;31|38	Hom;C>T	2382;1|64
N	N	-	19	1358726	1358726	C	T	snp	intronic	 	 	 	 	MUM1	Mum1	ENSG00000160953	melanoma associated antigen (mutated) 1	chr19:1285890-1378430			 		GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MUM1				http://www.informatics.jax.org/searchtool/Search.do?query=MUM1&submit=Quick%0D%10535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUM1	rs2285972	0.390575	0	0.5476	1	0	0	intronic	intronic	intronic	MUM1	MUM1	ENSG00000160953	Na	Na	Na	Na	Na	Na	Het;C>T	1005;65|55	Hom;C>T	3134;0|116
N	N	-	19	1370675	1370675	C	G	snp	synonymous SNV	C1380G	V460V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MUM1	Mum1	ENSG00000160953	melanoma associated antigen (mutated) 1	chr19:1285890-1378430			 		GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MUM1				http://www.informatics.jax.org/searchtool/Search.do?query=MUM1&submit=Quick%0D%10535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUM1	rs12608765	0.328275	0.3594	0.4139	1	0	0	exonic	exonic	exonic	MUM1	MUM1	ENSG00000160953	synonymous SNV	synonymous SNV	unknown	MUM1:NM_032853:exon12:c.C1587G:p.V529V,	MUM1:uc002lsb.2:exon12:c.C1380G:p.V460V,MUM1:uc002lrz.2:exon12:c.C1587G:p.V529V,MUM1:uc010dsi.2:exon13:c.C1380G:p.V460V,MUM1:uc010xgm.1:exon11:c.C1584G:p.V528V,	UNKNOWN	Het;C>G	665;22|31	Hom;C>G	1317;0|45
N	N	-	19	1377158	1377158	C	T	snp	UTR3	*583C>T	 	 	 	MUM1	Mum1	ENSG00000160953	melanoma associated antigen (mutated) 1	chr19:1285890-1378430			 		GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MUM1				http://www.informatics.jax.org/searchtool/Search.do?query=MUM1&submit=Quick%0D%10535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUM1	rs11084893	0.372804	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MUM1(NM_032853:c.*583C>T)	MUM1(uc002lrz.2:c.*583C>T,uc002lsb.2:c.*583C>T,uc010xgm.1:c.*677C>T)	ENSG00000267755	Na	Na	Na	Na	Na	Na	Het;C>T	870;65|41	Hom;C>T	2834;0|96
N	N	-	19	1388538	1388538	C	T	snp	nonsynonymous SNV	C68T	P23L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NDUFS7	Ndufs7	ENSG00000115286	NADH:ubiquinone oxidoreductase core subunit S7	chr19:1383526-1395583	This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length; Stroke	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070469;respiratory chain;IEA|GO:0097060;synaptic membrane;IEA	GO:0002020;protease binding;IEA|GO:0003954;NADH dehydrogenase activity;IEA|GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;NAS|GO:0046872;metal ion binding;IEA|GO:0048038;quinone binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFS7	https://www.uniprot.org/uniprot/O75251	https://hpo.jax.org/app/browse/search?q=NDUFS7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601825	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS7&submit=Quick%0D%4576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS7	rs1142530	0.455671	0.5406	0.5502	0.08	1	12	exonic	exonic	exonic	NDUFS7	NDUFS7	ENSG00000115286	nonsynonymous SNV	nonsynonymous SNV	unknown	NDUFS7:NM_024407:exon3:c.C68T:p.P23L,	NDUFS7:uc002lse.4:exon3:c.C68T:p.P23L,NDUFS7:uc002lsh.3:exon3:c.C260T:p.P87L,NDUFS7:uc002lsf.2:exon4:c.C260T:p.P87L,	UNKNOWN	Het;C>T	524;17|26	Hom;C>T	1258;0|47
N	N	-	19	1389064	1389064	G	T	snp	intronic	 	 	 	 	NDUFS7	Ndufs7	ENSG00000115286	NADH:ubiquinone oxidoreductase core subunit S7	chr19:1383526-1395583	This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length; Stroke	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070469;respiratory chain;IEA|GO:0097060;synaptic membrane;IEA	GO:0002020;protease binding;IEA|GO:0003954;NADH dehydrogenase activity;IEA|GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;NAS|GO:0046872;metal ion binding;IEA|GO:0048038;quinone binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFS7	https://www.uniprot.org/uniprot/O75251	https://hpo.jax.org/app/browse/search?q=NDUFS7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601825	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS7&submit=Quick%0D%4576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS7	rs7258846	0.455671	0	0.5774	1	0	0	intronic	intronic	intronic	NDUFS7	NDUFS7	ENSG00000115286	Na	Na	Na	Na	Na	Na	Het;G>T	159;16|7	Hom;G>T	663;0|21
N	N	-	19	1391235	1391235	G	A	snp	intronic	 	 	 	 	NDUFS7	Ndufs7	ENSG00000115286	NADH:ubiquinone oxidoreductase core subunit S7	chr19:1383526-1395583	This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length; Stroke	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070469;respiratory chain;IEA|GO:0097060;synaptic membrane;IEA	GO:0002020;protease binding;IEA|GO:0003954;NADH dehydrogenase activity;IEA|GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;NAS|GO:0046872;metal ion binding;IEA|GO:0048038;quinone binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFS7	https://www.uniprot.org/uniprot/O75251	https://hpo.jax.org/app/browse/search?q=NDUFS7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601825	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS7&submit=Quick%0D%4576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS7	rs2074897	0.297125	0.3632	0	1	0	0	intronic	intronic	intronic	NDUFS7	NDUFS7	ENSG00000115286	Na	Na	Na	Na	Na	Na	Het;G>A	196;8|9	Hom;G>A	195;0|7
N	N	-	19	1452815	1452815	C	G	snp	UTR5	-186C>G	 	 	 	APC2	Apc2	ENSG00000115266	APC2, WNT signaling pathway regulator	chr19:1446300-1473243		Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele display gradual postnatal growth retardation, abnormal lamination of the cerebral cortex, hippocampus, olfactory bulb and cerebellum, impaired neuronal migration and impaired coordination.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0035414;negative regulation of catenin import into nucleus;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0090630;activation of GTPase activity;IMP	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005884;actin filament;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016342;catenin complex;IDA|GO:0031258;lamellipodium membrane;IDA|GO:0031941;filamentous actin;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APC2	https://www.uniprot.org/uniprot/O95996	https://hpo.jax.org/app/browse/search?q=APC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612034	http://www.informatics.jax.org/searchtool/Search.do?query=APC2&submit=Quick%0D%4569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC2	rs265297	0.660343	0	0	1	0	0	intronic	UTR5	UTR5	APC2	APC2(uc002lst.1:c.-186C>G,uc002lsu.1:c.-186C>G)	ENSG00000115266(ENST00000535453:c.-186C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	129;1|5	Hom;C>G	156;0|6
N	N	-	19	1457370	1457370	C	T	snp	UTR5	-641C>T	 	 	 	APC2	Apc2	ENSG00000115266	APC2, WNT signaling pathway regulator	chr19:1446300-1473243		Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele display gradual postnatal growth retardation, abnormal lamination of the cerebral cortex, hippocampus, olfactory bulb and cerebellum, impaired neuronal migration and impaired coordination.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0035414;negative regulation of catenin import into nucleus;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0090630;activation of GTPase activity;IMP	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005884;actin filament;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016342;catenin complex;IDA|GO:0031258;lamellipodium membrane;IDA|GO:0031941;filamentous actin;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APC2	https://www.uniprot.org/uniprot/O95996	https://hpo.jax.org/app/browse/search?q=APC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612034	http://www.informatics.jax.org/searchtool/Search.do?query=APC2&submit=Quick%0D%4569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC2	rs3894776	0.577276	0	0	1	0	0	intronic	UTR5	intronic	APC2	APC2(uc002lss.1:c.-641C>T)	ENSG00000115266	Na	Na	Na	Na	Na	Na	Het;C>T	96;8|5	Hom;C>T	133;0|5
N	N	-	19	1457875	1457875	G	A	snp	ncRNA_exonic	 	 	 	 	AC027307.2																		rs12005	0.66254	0	0	1	0	0	intronic	UTR5	ncRNA_exonic	APC2	APC2(uc002lss.1:c.-136G>A)	ENSG00000267317	Na	Na	Na	Na	Na	Na	Het;G>A	148;9|6	Hom;G>A	263;0|8
N	N	-	19	1457894	1457894	C	CGGGGGGGGG	indel	ncRNA_exonic	 	 	 	 	AC027307.2																		rs374378343	0	0	0	1	0	0	intronic	UTR5	ncRNA_exonic	APC2	APC2(uc002lss.1:c.-117C>CGGGGGGGGG)	ENSG00000267317	Na	Na	Na	Na	Na	Na	Het;+GGGGGGGGG	207;18|8	Hom;+GGGGGGGGG	544;0|9
N	N	-	19	14581756	14581775	TGCCTCAAGGGCCTCGTTGC	T	indel	intronic	 	 	 	 	PKN1	Pkn1	ENSG00000123143	protein kinase N1	chr19:14543865-14582679	The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a null allele show spontaneous germinal center formation and autoantibody production and develop glomerulonephritis. Homozygotes for a different null allele have mild systolic and diastolic dysfunction, and show increased myocardial infarction size after ischemia-reperfusion injury.	Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3	GO:0001782;B cell homeostasis;IEA|GO:0001783;B cell apoptotic process;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0002634;regulation of germinal center formation;IEA|GO:0002637;regulation of immunoglobulin production;IEA|GO:0003014;renal system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006468;protein phosphorylation;TAS|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006972;hyperosmotic response;IEA|GO:0007165;signal transduction;TAS|GO:0007257;activation of JUN kinase activity;TAS|GO:0010631;epithelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030889;negative regulation of B cell proliferation;IEA|GO:0035407;histone H3-T11 phosphorylation;IDA|GO:0048536;spleen development;IEA|GO:2000145;regulation of cell motility;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0043234;protein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017049;GTP-Rho binding;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0035402;histone kinase activity (H3-T11 specific);IDA|GO:0042393;histone binding;IDA|GO:0042826;histone deacetylase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0050681;androgen receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PKN1	https://www.uniprot.org/uniprot/Q16512		https://www.ncbi.nlm.nih.gov/omim/?term=601032	http://www.informatics.jax.org/searchtool/Search.do?query=PKN1&submit=Quick%0D%5491ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKN1	rs398059580	0.0251597	0	0	1	0	0	intronic	intronic	intronic	PKN1	PKN1	ENSG00000123143	Na	Na	Na	Na	Na	Na	Het;-GCCTCAAGGGCCTCGTTGC	116;6|4	Hom;-GCCTCAAGGGCCTCGTTGC	328;0|8
N	N	-	19	14673828	14673828	C	T	snp	intronic	 	 	 	 	TECR	Tecr	ENSG00000099797	trans-2,3-enoyl-CoA reductase	chr19:14627897-14676792	This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]	MENTAL RETARDATION AUTOSOMAL RECESSIVE 14	 	Synthesis of very long-chain fatty acyl-CoAs	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TECR	https://www.uniprot.org/uniprot/Q9NZ01	https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610057	http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR	rs4926135	0.295927	0	0	1	0	0	intronic	intronic	intronic	TECR	TECR	ENSG00000099797	Na	Na	Na	Na	Na	Na	Het;C>T	185;5|8	Hom;C>T	287;0|9
N	N	-	19	14758168	14758168	G	A	snp	nonsynonymous SNV	C329T	A110V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADGRE3																		rs34226397	0.298123	0.3268	0.2858	0.25	3	12	exonic	exonic	exonic	ADGRE3	EMR3	ENSG00000131355	nonsynonymous SNV	nonsynonymous SNV	unknown	ADGRE3:NM_001289159:exon5:c.C329T:p.A110V,ADGRE3:NM_032571:exon8:c.C707T:p.A236V,ADGRE3:NM_001289158:exon7:c.C551T:p.A184V,	EMR3:uc010dzp.3:exon7:c.C551T:p.A184V,EMR3:uc010xnv.2:exon5:c.C329T:p.A110V,EMR3:uc002mzi.4:exon8:c.C707T:p.A236V,	UNKNOWN	Het;G>A	347;12|16	Hom;G>A	539;0|20
N	N	-	19	14762156	14762156	A	C	snp	intronic	 	 	 	 	ADGRE3																		rs34562990	0.31889	0	0	1	0	0	intronic	intronic	intronic	ADGRE3	EMR3	ENSG00000131355	Na	Na	Na	Na	Na	Na	Het;A>C	187;8|7	Hom;A>C	573;0|16
N	N	-	19	14769207	14769207	G	T	snp	intronic	 	 	 	 	ADGRE3																		rs4488589	0.319688	0	0	1	0	0	intronic	intronic	intronic	ADGRE3	EMR3	ENSG00000131355	Na	Na	Na	Na	Na	Na	Het;G>T	33;2|2	Hom;G>T	81;0|3
N	N	-	19	14769339	14769339	C	G	snp	nonsynonymous SNV	G379C	E127Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	ADGRE3																		rs4606855	0.855831	0.7931	0.7747	0.08	1	12	exonic	exonic	exonic	ADGRE3	EMR3	ENSG00000131355	nonsynonymous SNV	nonsynonymous SNV	unknown	ADGRE3:NM_032571:exon5:c.G379C:p.E127Q,ADGRE3:NM_001289158:exon4:c.G223C:p.E75Q,	EMR3:uc010dzp.3:exon4:c.G223C:p.E75Q,EMR3:uc002mzi.4:exon5:c.G379C:p.E127Q,	UNKNOWN	Het;C>G	300;27|18	Hom;C>G	516;0|22
N	N	-	19	14772984	14772984	G	T	snp	intronic	 	 	 	 	ADGRE3																		rs8111916	0.291733	0	0	1	0	0	intronic	intronic	intronic	ADGRE3	EMR3	ENSG00000131355	Na	Na	Na	Na	Na	Na	Het;G>T	1173;20|49	Hom;G>T	2387;0|85
N	N	-	19	14773022	14773022	T	C	snp	intronic	 	 	 	 	ADGRE3																		rs8102148	0.234425	0	0	1	0	0	intronic	intronic	intronic	ADGRE3	EMR3	ENSG00000131355	Na	Na	Na	Na	Na	Na	Het;T>C	724;10|27	Hom;T>C	1362;0|43
N	N	-	19	14773077	14773077	G	A	snp	intronic	 	 	 	 	ADGRE3																		rs8112014	0.290136	0	0	1	0	0	intronic	intronic	intronic	ADGRE3	EMR3	ENSG00000131355	Na	Na	Na	Na	Na	Na	Het;G>A	99;4|5	Hom;G>A	350;0|11
N	N	-	19	14779550	14779550	C	A	snp	unknown	 	 	 	 	ADGRE3																		rs4239642	0.857428	0.7882	0.7810	0.25	1	4	intronic	intronic	exonic	ADGRE3	EMR3	ENSG00000131355	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>A	69;8|5	Hom;C>A	247;0|10
N	N	-	19	14826849	14826849	T	C	snp	intronic	 	 	 	 	ZNF333	 	ENSG00000160961	zinc finger protein 333	chr19:14800613-14844558		Depressive Disorder, Major	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF333			https://www.ncbi.nlm.nih.gov/omim/?term=611811	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF333&submit=Quick%0D%10538ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF333	rs4078586	0.812899	0	0	1	0	0	intronic	intronic	intronic	ZNF333	ZNF333	ENSG00000160961	Na	Na	Na	Na	Na	Na	Het;T>C	354;1|11	Hom;T>C	188;0|7
N	N	-	19	15014161	15014161	A	ACT	indel	ncRNA_exonic	 	 	 	 	OR7A3P																		rs35639269	0.574481	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR7A17(dist=21994),OR7C2(dist=38140)	OR7A17(dist=21994),OR7C2(dist=38140)	ENSG00000269787	Na	Na	Na	Na	Na	Na	Het;+CT	233;8|7	Hom;+CT	233;0|6
N	N	-	19	15038355	15038355	G	T	snp	ncRNA_exonic	 	 	 	 	OR7A15P																		rs4808693	0.259185	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR7A17(dist=46188),OR7C2(dist=13946)	OR7A17(dist=46188),OR7C2(dist=13946)	ENSG00000176923	Na	Na	Na	Na	Na	Na	Het;G>T	72;10|6	Hom;G>T	228;0|9
N	N	-	19	15038754	15038754	G	T	snp	ncRNA_exonic	 	 	 	 	OR7A15P																		rs2366860	0.454872	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR7A17(dist=46587),OR7C2(dist=13547)	OR7A17(dist=46587),OR7C2(dist=13547)	ENSG00000176923	Na	Na	Na	Na	Na	Na	Het;G>T	162;2|8	Hom;G>T	142;0|6
N	N	-	19	15124474	15124474	C	T	snp	intronic	 	 	 	 	CCDC105	Ccdc105	ENSG00000160994	coiled-coil domain containing 105	chr19:15121556-15134081		benzene haematotoxicity; Blood Pressure	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC105				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC105&submit=Quick%0D%10544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC105	rs11085935	0.536542	0.5933	0.5445	1	0	0	intronic	intronic	intronic	CCDC105	CCDC105	ENSG00000105143,ENSG00000160994	Na	Na	Na	Na	Na	Na	Het;C>T	468;21|23	Hom;C>T	1128;0|44
N	N	-	19	15124694	15124694	A	T	snp	intronic	 	 	 	 	CCDC105	Ccdc105	ENSG00000160994	coiled-coil domain containing 105	chr19:15121556-15134081		benzene haematotoxicity; Blood Pressure	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC105				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC105&submit=Quick%0D%10544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC105	rs11085936	0.309305	0	0	1	0	0	intronic	intronic	intronic	CCDC105	CCDC105	ENSG00000105143,ENSG00000160994	Na	Na	Na	Na	Na	Na	Het;A>T	338;9|14	Hom;A>T	345;0|13
N	N	-	19	15124724	15124724	T	C	snp	intronic	 	 	 	 	CCDC105	Ccdc105	ENSG00000160994	coiled-coil domain containing 105	chr19:15121556-15134081		benzene haematotoxicity; Blood Pressure	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC105				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC105&submit=Quick%0D%10544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC105	rs11085937	0.309305	0	0	1	0	0	intronic	intronic	intronic	CCDC105	CCDC105	ENSG00000105143,ENSG00000160994	Na	Na	Na	Na	Na	Na	Het;T>C	225;4|7	Hom;T>C	283;0|9
N	N	-	19	15131213	15131213	G	T	snp	intronic	 	 	 	 	CCDC105	Ccdc105	ENSG00000160994	coiled-coil domain containing 105	chr19:15121556-15134081		benzene haematotoxicity; Blood Pressure	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC105				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC105&submit=Quick%0D%10544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC105	rs7248834	0.79992	0	0	1	0	0	intronic	intronic	intronic	CCDC105	CCDC105	ENSG00000105143,ENSG00000160994	Na	Na	Na	Na	Na	Na	Het;G>T	180;6|9	Hom;G>T	642;0|22
N	N	-	19	15132574	15132574	C	G	snp	intronic	 	 	 	 	CCDC105	Ccdc105	ENSG00000160994	coiled-coil domain containing 105	chr19:15121556-15134081		benzene haematotoxicity; Blood Pressure	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC105				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC105&submit=Quick%0D%10544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC105	rs757463	0.837061	0.8385	0.8534	1	0	0	intronic	intronic	intronic	CCDC105	CCDC105	ENSG00000105143,ENSG00000160994	Na	Na	Na	Na	Na	Na	Het;C>G	1796;49|78	Hom;C>G	4842;2|171
N	N	-	19	15278373	15278373	A	ATTTG	indel	intronic	 	 	 	 	NOTCH3	Notch3	ENSG00000074181	notch 3	chr19:15270444-15311792	This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]	migraine migraine with aura; cerebral arteriopathy; leukoencephalopathy; migraine; CADASIL|Cardiovascular Diseases|Hypertension|Migraine Disorders; ovarian cancer; multiple sclerosis; CADASIL; cerebrovascular disease; alopecia and lumbar herniated disk; subcortical infarcts and leukoencephalopathy (CADASIL)]; subcortical infarcts and leukoencephalopathy; Type 2 Diabetes| edema | rosiglitazone; stroke; schizophrenia; CADASIL|Disease Progression; cerebral infarct; cerebral arteriopathy; null; Brain Infarction|CADASIL|Cerebral Hemorrhage|; Cleft Lip|Cleft Palate	Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed.	Defective LFNG causes SCDO3	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030900;forebrain development;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048844;artery morphogenesis;IEA|GO:0072104;glomerular capillary formation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004872;receptor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NOTCH3	https://www.uniprot.org/uniprot/Q9UM47	https://hpo.jax.org/app/browse/search?q=NOTCH3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600276	http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH3&submit=Quick%0D%1492ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH3	rs112623943	0.870008	0	0	1	0	0	intronic	intronic	intronic	NOTCH3	NOTCH3	ENSG00000074181	Na	Na	Na	Na	Na	Na	Het;+TTTG	548;1|14	Hom;+TTTG	638;0|15
N	N	-	19	1529527	1529527	G	C	snp	intronic	 	 	 	 	PLK5	Plk5	ENSG00000185988	polo like kinase 5	chr19:1524073-1535455			 		GO:0002357;defense response to tumor cell;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0031572;G2 DNA damage checkpoint;IMP|GO:0051301;cell division;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA	GO:0004672;protein kinase activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLK5				http://www.informatics.jax.org/searchtool/Search.do?query=PLK5&submit=Quick%0D%15543ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLK5	rs2668409	0.82488	0	0.7987	1	0	0	intronic	intronic	intronic	PLK5	PLK5	ENSG00000185988	Na	Na	Na	Na	Na	Na	Het;G>C	1029;15|32	Hom;G>C	2028;0|54
N	N	-	19	1529550	1529550	A	G	snp	intronic	 	 	 	 	PLK5	Plk5	ENSG00000185988	polo like kinase 5	chr19:1524073-1535455			 		GO:0002357;defense response to tumor cell;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0031572;G2 DNA damage checkpoint;IMP|GO:0051301;cell division;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA	GO:0004672;protein kinase activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLK5				http://www.informatics.jax.org/searchtool/Search.do?query=PLK5&submit=Quick%0D%15543ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLK5	rs2656863	0.882188	0	0	1	0	0	intronic	intronic	intronic	PLK5	PLK5	ENSG00000185988	Na	Na	Na	Na	Na	Na	Het;A>G	826;13|19	Hom;A>G	1593;0|36
N	N	-	19	15587472	15587472	T	C	snp	intronic	 	 	 	 	PGLYRP2	Pglyrp2	ENSG00000161031	peptidoglycan recognition protein 2	chr19:15579456-15609767	This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011]	Coronary Disease|Coronary heart disease|Myocardial Infarction; Carcinoma, Squamous Cell|Esophageal Neoplasms; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke	Mice homozygous for disruption of this gene are viable and fertile with no gross developmental defects. Mice homozygous for a different knock-out allele are resistant to peptidoglycan- or muramyl dipeptide-induced arthritis and increased susceptibility to DSS-induced colitis.	Antimicrobial peptides	GO:0001519;peptide amidation;NAS|GO:0002221;pattern recognition receptor signaling pathway;IEA|GO:0002376;immune system process;IEA|GO:0009253;peptidoglycan catabolic process;IEA|GO:0016045;detection of bacterium;IDA|GO:0019730;antimicrobial humoral response;TAS|GO:0032689;negative regulation of interferon-gamma production;IEA|GO:0032827;negative regulation of natural killer cell differentiation involved in immune response;IEA|GO:0044117;growth of symbiont in host;IEA|GO:0045087;innate immune response;NAS|GO:0050727;regulation of inflammatory response;IEA|GO:0050830;defense response to Gram-positive bacterium;IDA	GO:0005576;extracellular region;TAS|GO:0005622;intracellular;NAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0008270;zinc ion binding;IEA|GO:0008745;N-acetylmuramoyl-L-alanine amidase activity;EXP|GO:0016019;peptidoglycan receptor activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0042834;peptidoglycan binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PGLYRP2			https://www.ncbi.nlm.nih.gov/omim/?term=608199	http://www.informatics.jax.org/searchtool/Search.do?query=PGLYRP2&submit=Quick%0D%10551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PGLYRP2	rs1560727	0.308107	0	0	1	0	0	intronic	intronic	intronic	PGLYRP2	PGLYRP2	ENSG00000161031	Na	Na	Na	Na	Na	Na	Het;T>C	99;16|6	Hom;T>C	575;0|20
N	N	-	19	15890625	15890625	C	G	snp	ncRNA_exonic	 	 	 	 	CYP4F24P																		rs11673423	0.542732	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	CYP4F24P	CYP4F24P(dist=5451),OR10H5(dist=14234)	ENSG00000267594	Na	Na	Na	Na	Na	Na	Het;C>G	884;11|23	Hom;C>G	1399;0|35
N	N	-	19	16093380	16093380	A	G	snp	ncRNA_intronic	 	 	 	 	CYP4F9P																		rs56956519	0.101238	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	OR10H4(dist=32612),LINC00661(dist=33064)	OR10H4(dist=32612),LINC00661(dist=33064)	ENSG00000267392	Na	Na	Na	Na	Na	Na	Het;A>G	82;19|7	Hom;A>G	387;0|15
N	N	-	19	1624007	1624007	A	G	snp	intronic	 	 	 	 	TCF3	Tcf3	ENSG00000071564	transcription factor 3	chr19:1609291-1652604	This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]	Precursor B-cell acute lymphoblastic leukemia	Homozygotes for targeted null mutations are devoid of mature B cells, have a partial early block in T-lymphocyte development, and show high postnatal mortality. Many survivors develop T-cell lymphomas between 3 and 10 months of age.	RUNX1 regulates transcription of genes involved in differentiation of HSCs	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002326;B cell lineage commitment;NAS|GO:0006351;transcription, DNA-templated;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;NAS|GO:0033152;immunoglobulin V(D)J recombination;IDA|GO:0045666;positive regulation of neuron differentiation;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051149;positive regulation of muscle cell differentiation;TAS	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003713;transcription coactivator activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IPI|GO:0035326;enhancer binding;IC|GO:0042803;protein homodimerization activity;IDA|GO:0043425;bHLH transcription factor binding;IPI|GO:0046982;protein heterodimerization activity;IDA|GO:0046983;protein dimerization activity;IEA|GO:0070491;repressing transcription factor binding;IPI|GO:0070644;vitamin D response element binding;IDA|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TCF3	https://www.uniprot.org/uniprot/P15923	https://hpo.jax.org/app/browse/search?q=TCF3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147141	http://www.informatics.jax.org/searchtool/Search.do?query=TCF3&submit=Quick%0D%1401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF3	rs55677929	0.366813	0.2472	0.2663	1	0	0	intronic	intronic	intronic	TCF3	TCF3	ENSG00000071564	Na	Na	Na	Na	Na	Na	Het;A>G	1828;103|89	Hom;A>G	4399;2|166
N	N	-	19	16254422	16254422	T	C	snp	intronic	 	 	 	 	HSH2D	Hsh2d	ENSG00000196684	hematopoietic SH2 domain containing	chr19:16244838-16269386	T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit enhanced IL-2 production, increased T cell proliferation in response to TCR/CD28 stimulation, splenomegaly, and an increased frequency of activated T cells.		GO:0002903;negative regulation of B cell apoptotic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0042110;T cell activation;IEA|GO:0051902;negative regulation of mitochondrial depolarization;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA	GO:0005070;SH3/SH2 adaptor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HSH2D			https://www.ncbi.nlm.nih.gov/omim/?term=608349	http://www.informatics.jax.org/searchtool/Search.do?query=HSH2D&submit=Quick%0D%16440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSH2D	rs4321304	0.298323	0	0	1	0	0	intronic	intronic	intronic	HSH2D	HSH2D	ENSG00000196684	Na	Na	Na	Na	Na	Na	Het;T>C	464;43|24	Hom;T>C	1245;0|45
N	N	-	19	16254694	16254694	A	G	snp	intronic	 	 	 	 	HSH2D	Hsh2d	ENSG00000196684	hematopoietic SH2 domain containing	chr19:16244838-16269386	T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit enhanced IL-2 production, increased T cell proliferation in response to TCR/CD28 stimulation, splenomegaly, and an increased frequency of activated T cells.		GO:0002903;negative regulation of B cell apoptotic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0042110;T cell activation;IEA|GO:0051902;negative regulation of mitochondrial depolarization;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA	GO:0005070;SH3/SH2 adaptor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HSH2D			https://www.ncbi.nlm.nih.gov/omim/?term=608349	http://www.informatics.jax.org/searchtool/Search.do?query=HSH2D&submit=Quick%0D%16440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSH2D	rs2446366	0.926118	0	0	1	0	0	intronic	intronic	intronic	HSH2D	HSH2D	ENSG00000196684	Na	Na	Na	Na	Na	Na	Het;A>G	302;6|12	Hom;A>G	388;0|11
N	N	-	19	17004049	17004049	T	C	snp	nonsynonymous SNV	A5669G	Q1890R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	CPAMD8	 	ENSG00000160111	C3 and PZP like, alpha-2-macroglobulin domain containing 8	chr19:17003758-17137625	CPAMD8 belongs to the complement component-3 (C3; MIM 120700)/alpha-2-macroglobulin (A2M; MIM 103950) family of proteins, which are involved in innate immunity and damage control. Complement components recognize and eliminate pathogens by direct binding or by mediating opsonization/phagocytosis and intracellular killing, and A2M is a broad-spectrum protease inhibitor (Li et al., 2004 [PubMed 15177561]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Brain lesion load; Multiple Sclerosis	 		GO:0001654;eye development;IMP|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPAMD8		https://hpo.jax.org/app/browse/search?q=CPAMD8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608841	http://www.informatics.jax.org/searchtool/Search.do?query=CPAMD8&submit=Quick%0D%10402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPAMD8	rs1054533	0.211462	0.2682	0.3688	0.10	1	10	exonic	exonic	exonic	CPAMD8	CPAMD8	ENSG00000160111	nonsynonymous SNV	nonsynonymous SNV	unknown	CPAMD8:NM_015692:exon42:c.A5669G:p.Q1890R,	CPAMD8:uc002nfb.3:exon42:c.A5669G:p.Q1890R,	UNKNOWN	Het;T>C	765;44|41	Hom;T>C	1841;2|73
N	N	-	19	17008578	17008578	G	C	snp	synonymous SNV	C5130G	T1710T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CPAMD8	 	ENSG00000160111	C3 and PZP like, alpha-2-macroglobulin domain containing 8	chr19:17003758-17137625	CPAMD8 belongs to the complement component-3 (C3; MIM 120700)/alpha-2-macroglobulin (A2M; MIM 103950) family of proteins, which are involved in innate immunity and damage control. Complement components recognize and eliminate pathogens by direct binding or by mediating opsonization/phagocytosis and intracellular killing, and A2M is a broad-spectrum protease inhibitor (Li et al., 2004 [PubMed 15177561]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Brain lesion load; Multiple Sclerosis	 		GO:0001654;eye development;IMP|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPAMD8		https://hpo.jax.org/app/browse/search?q=CPAMD8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608841	http://www.informatics.jax.org/searchtool/Search.do?query=CPAMD8&submit=Quick%0D%10402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPAMD8	rs2608732	0.564896	0.6073	0.5439	1	0	0	exonic	exonic	exonic	CPAMD8	CPAMD8	ENSG00000160111	synonymous SNV	synonymous SNV	unknown	CPAMD8:NM_015692:exon39:c.C5130G:p.T1710T,	CPAMD8:uc002nfb.3:exon39:c.C5130G:p.T1710T,CPAMD8:uc002nfd.1:exon6:c.C525G:p.T175T,	UNKNOWN	Het;G>C	910;41|38	Hom;G>C	2419;0|80
N	N	-	19	17122630	17122630	G	A	snp	ncRNA_intronic	 	 	 	 	AC020908.2																		rs35560062	0.398762	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CPAMD8	CPAMD8	ENSG00000268985	Na	Na	Na	Na	Na	Na	Het;G>A	206;22|11	Hom;G>A	866;0|30
N	N	-	19	17161093	17161093	T	C	snp	intronic	 	 	 	 	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs7260259	0.745607	0	0	1	0	0	intronic	intronic	intronic	HAUS8	HAUS8	ENSG00000131351	Na	Na	Na	Na	Na	Na	Het;T>C	89;14|6	Hom;T>C	327;0|10
N	N	-	19	17166981	17166981	G	A	snp	intronic	 	 	 	 	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs2278997	0.370807	0	0	1	0	0	intronic	intronic	intronic	HAUS8	HAUS8	ENSG00000131351	Na	Na	Na	Na	Na	Na	Het;G>A	57;3|3	Hom;G>A	192;0|7
N	N	-	19	17169758	17169758	G	C	snp	intronic	 	 	 	 	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs2305757	0.470847	0	0	1	0	0	intronic	intronic	intronic	HAUS8	HAUS8	ENSG00000131351	Na	Na	Na	Na	Na	Na	Het;G>C	176;13|8	Hom;G>C	1108;0|34
N	N	-	19	17170885	17170885	C	T	snp	nonsynonymous SNV	G247A	G83R	aliphatic,neutral	polar,hydrophilic,charged(+)	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs1130222	0.471246	0.4322	0.4658	0.23	3	13	exonic	exonic	exonic	HAUS8	HAUS8	ENSG00000131351	nonsynonymous SNV	nonsynonymous SNV	unknown	HAUS8:NM_033417:exon5:c.G247A:p.G83R,HAUS8:NM_001011699:exon5:c.G244A:p.G82R,	HAUS8:uc002nfe.3:exon5:c.G247A:p.G83R,HAUS8:uc002nff.3:exon5:c.G244A:p.G82R,	UNKNOWN	Het;C>T	1248;78|65	Hom;C>T	3634;0|141
N	N	-	19	17173487	17173487	A	G	snp	intronic	 	 	 	 	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs3816550	0.471246	0.4319	0.4660	1	0	0	intronic	intronic	intronic	HAUS8	HAUS8	ENSG00000131351	Na	Na	Na	Na	Na	Na	Het;A>G	466;22|21	Hom;A>G	1352;0|47
N	N	-	19	17179789	17179789	G	A	snp	intronic	 	 	 	 	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs2305754	0.702676	0.7339	0	1	0	0	intronic	intronic	intronic	HAUS8	HAUS8	ENSG00000131351	Na	Na	Na	Na	Na	Na	Het;G>A	806;47|39	Hom;G>A	1848;0|65
N	N	-	19	17186127	17186127	A	C	snp	intronic	 	 	 	 	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs2305752	0.489417	0.4529	0	1	0	0	intronic	intronic	intronic	HAUS8	HAUS8	ENSG00000131351	Na	Na	Na	Na	Na	Na	Het;A>C	1240;52|34	Hom;A>C	2370;0|54
N	N	-	19	17186136	17186136	C	A	snp	intronic	 	 	 	 	HAUS8	Haus8	ENSG00000131351	HAUS augmin like complex subunit 8	chr19:17160539-17186435	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS8	https://www.uniprot.org/uniprot/Q9BT25		https://www.ncbi.nlm.nih.gov/omim/?term=613434	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8	rs2305751	0.715056	0.7300	0	1	0	0	intronic	intronic	intronic	HAUS8	HAUS8	ENSG00000131351	Na	Na	Na	Na	Na	Na	Het;C>A	1324;54|38	Hom;C>A	2706;0|67
N	N	-	19	17212410	17212410	C	T	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs3745348	0.421326	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;C>T	152;2|7	Hom;C>T	357;0|13
N	N	-	19	17298679	17298679	G	C	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs7249926	0.639177	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;G>C	117;5|6	Hom;G>C	230;0|8
N	N	-	19	17298724	17298724	G	C	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs9305088	0.639177	0.5074	0.5400	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;G>C	322;9|15	Hom;G>C	933;0|33
N	N	-	19	17298893	17298893	G	T	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs3826689	0.638978	0.4909	0.4949	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;G>T	516;26|22	Hom;G>T	911;0|33
N	N	-	19	17298946	17298946	T	C	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs3826690	0.639377	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;T>C	165;14|8	Hom;T>C	346;0|10
N	N	-	19	17301863	17301863	G	A	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs962919	0.635982	0.4956	0.5024	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;G>A	346;14|15	Hom;G>A	922;0|32
N	N	-	19	17301880	17301880	T	C	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs4808072	0.753395	0.6926	0.6550	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;T>C	399;17|16	Hom;T>C	1158;0|40
N	N	-	19	17302056	17302056	A	G	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs962918	0.753594	0.6955	0.6512	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;A>G	382;18|19	Hom;A>G	1120;0|40
N	N	-	19	17302112	17302114	ACT	A	indel	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs10541498	0.638778	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;-CT	132;11|5	Hom;-CT	572;0|14
N	N	-	19	17303460	17303460	A	G	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs4808594	0.64397	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;A>G	294;8|10	Hom;A>G	470;1|17
N	N	-	19	17303774	17303774	T	G	snp	nonsynonymous SNV	T3031G	S1011A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs1545620	0.644369	0.5247	0.5490	0.08	1	13	exonic	exonic	exonic	MYO9B	MYO9B	ENSG00000099331	nonsynonymous SNV	nonsynonymous SNV	unknown	MYO9B:NM_001130065:exon21:c.T3031G:p.S1011A,MYO9B:NM_004145:exon21:c.T3031G:p.S1011A,	MYO9B:uc010eak.3:exon21:c.T3031G:p.S1011A,MYO9B:uc002nfj.1:exon20:c.T3031G:p.S1011A,MYO9B:uc002nfi.3:exon21:c.T3031G:p.S1011A,	UNKNOWN	Het;T>G	1477;63|69	Hom;T>G	3543;2|130
N	N	-	19	17305440	17305440	T	C	snp	synonymous SNV	T3204C	G1068G	aliphatic,neutral	aliphatic,neutral	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs1064305	0.644169	0.5114	0.5089	1	0	0	exonic	exonic	exonic	MYO9B	MYO9B	ENSG00000099331	synonymous SNV	synonymous SNV	unknown	MYO9B:NM_001130065:exon22:c.T3204C:p.G1068G,MYO9B:NM_004145:exon22:c.T3204C:p.G1068G,	MYO9B:uc010eak.3:exon22:c.T3204C:p.G1068G,MYO9B:uc002nfj.1:exon21:c.T3204C:p.G1068G,MYO9B:uc002nfi.3:exon22:c.T3204C:p.G1068G,	UNKNOWN	Het;T>C	1037;41|46	Hom;T>C	1903;0|69
N	N	-	19	17306031	17306031	T	C	snp	synonymous SNV	T3795C	P1265P	hydrophobic,neutral	hydrophobic,neutral	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs2279003	0.759185	0.6900	0.6576	1	0	0	exonic	exonic	exonic	MYO9B	MYO9B	ENSG00000099331	synonymous SNV	synonymous SNV	unknown	MYO9B:NM_001130065:exon22:c.T3795C:p.P1265P,MYO9B:NM_004145:exon22:c.T3795C:p.P1265P,	MYO9B:uc010eak.3:exon22:c.T3795C:p.P1265P,MYO9B:uc002nfj.1:exon21:c.T3795C:p.P1265P,MYO9B:uc002nfi.3:exon22:c.T3795C:p.P1265P,	UNKNOWN	Het;T>C	854;76|46	Hom;T>C	3237;0|108
N	N	-	19	17308734	17308734	T	G	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs3745160	0.759585	0.6848	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;T>G	332;19|16	Hom;T>G	1114;0|40
N	N	-	19	17311442	17311442	C	G	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs2305766	0.576078	0.4133	0.5106	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;C>G	411;25|20	Hom;C>G	1158;0|42
N	N	-	19	17312992	17312992	C	T	snp	synonymous SNV	C4716T	V1572V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs2305765	0.600439	0.4422	0.5004	1	0	0	exonic	exonic	exonic	MYO9B	MYO9B	ENSG00000099331	synonymous SNV	synonymous SNV	unknown	MYO9B:NM_001130065:exon28:c.C4716T:p.V1572V,MYO9B:NM_004145:exon28:c.C4716T:p.V1572V,	MYO9B:uc010eak.3:exon28:c.C4716T:p.V1572V,MYO9B:uc002nfj.1:exon27:c.C4716T:p.V1572V,MYO9B:uc002nfl.1:exon5:c.C363T:p.V121V,MYO9B:uc002nfi.3:exon28:c.C4716T:p.V1572V,	UNKNOWN	Het;C>T	465;30|23	Hom;C>T	1834;0|68
N	N	-	19	17313178	17313178	A	AT	indel	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs11392202	0.624201	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;+T	1197;12|34	Hom;+T	2086;0|53
N	N	-	19	17313619	17313619	C	A	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs8101251	0.61242	0.4576	0.4948	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;C>A	445;16|22	Hom;C>A	959;0|36
N	N	-	19	17313833	17313833	G	A	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs2305764	0.61262	0	0.5195	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;G>A	357;7|12	Hom;G>A	372;0|11
N	N	-	19	17314189	17314189	C	T	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs1811525	0.61242	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;C>T	268;7|13	Hom;C>T	177;0|7
N	N	-	19	17316253	17316253	T	C	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs2305763	0.629792	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;T>C	79;3|3	Hom;T>C	231;0|7
N	N	-	19	17316782	17316782	T	C	snp	nonsynonymous SNV	T5078C	V1693A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs7248508	0.631589	0.4809	0.5198	0.31	4	13	exonic	exonic	exonic	MYO9B	MYO9B	ENSG00000099331	nonsynonymous SNV	nonsynonymous SNV	unknown	MYO9B:NM_001130065:exon32:c.T5078C:p.V1693A,MYO9B:NM_004145:exon32:c.T5078C:p.V1693A,	MYO9B:uc010eak.3:exon32:c.T5078C:p.V1693A,MYO9B:uc002nfj.1:exon31:c.T5078C:p.V1693A,MYO9B:uc002nfi.3:exon32:c.T5078C:p.V1693A,	UNKNOWN	Het;T>C	641;19|31	Hom;T>C	1543;0|55
N	N	-	19	17317252	17317252	A	G	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs2279002	0.503794	0	0	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;A>G	146;12|9	Hom;A>G	496;0|18
N	N	-	19	17317955	17317955	A	G	snp	synonymous SNV	A5526G	S1842S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs8110964	0.63139	0.4794	0.5093	1	0	0	exonic	exonic	exonic	MYO9B	MYO9B	ENSG00000099331	synonymous SNV	synonymous SNV	unknown	MYO9B:NM_001130065:exon35:c.A5526G:p.S1842S,MYO9B:NM_004145:exon35:c.A5526G:p.S1842S,	MYO9B:uc010eak.3:exon35:c.A5526G:p.S1842S,MYO9B:uc002nfj.1:exon34:c.A5526G:p.S1842S,MYO9B:uc002nfm.1:exon2:c.A6G:p.S2S,MYO9B:uc002nfi.3:exon35:c.A5526G:p.S1842S,	UNKNOWN	Het;A>G	1500;82|69	Hom;A>G	1868;0|71
N	N	-	19	17321487	17321487	A	G	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs12982797	0.63139	0.4471	0.5106	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;A>G	156;14|8	Hom;A>G	732;0|27
N	N	-	19	17321669	17321669	A	G	snp	intronic	 	 	 	 	MYO9B	Myo9b	ENSG00000099331	myosin IXB	chr19:17186591-17325346	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina	Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.	Regulation of actin dynamics for phagocytic cup formation	GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO9B	https://www.uniprot.org/uniprot/Q13459		https://www.ncbi.nlm.nih.gov/omim/?term=602129	http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B	rs12463169	0.630591	0.4717	0.5409	1	0	0	intronic	intronic	intronic	MYO9B	MYO9B	ENSG00000099331	Na	Na	Na	Na	Na	Na	Het;A>G	683;37|33	Hom;A>G	1643;0|63
N	N	-	19	17337223	17337223	G	A	snp	intronic	 	 	 	 	OCEL1	Ocel1	ENSG00000099330	occludin/ELL domain containing 1	chr19:17337013-17340028			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/OCEL1	https://www.uniprot.org/uniprot/Q9H607			http://www.informatics.jax.org/searchtool/Search.do?query=OCEL1&submit=Quick%0D%2310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OCEL1	rs2288542	0.704872	0	0	1	0	0	intronic	intronic	intronic	OCEL1	OCEL1	ENSG00000099330	Na	Na	Na	Na	Na	Na	Het;G>A	342;8|13	Hom;G>A	496;0|18
N	N	-	19	17362526	17362526	A	G	snp	intronic	 	 	 	 	USHBP1	Ushbp1	ENSG00000130307	USH1 protein network component harmonin binding protein 1	chr19:17359985-17393595			 				GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USHBP1	https://www.uniprot.org/uniprot/Q8N6Y0		https://www.ncbi.nlm.nih.gov/omim/?term=611810	http://www.informatics.jax.org/searchtool/Search.do?query=USHBP1&submit=Quick%0D%6351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USHBP1	rs10469471	0.73762	0.6670	0.6627	1	0	0	intronic	intronic	intronic	USHBP1	USHBP1	ENSG00000130307,ENSG00000269095	Na	Na	Na	Na	Na	Na	Het;A>G	1169;73|57	Hom;A>G	3536;0|122
N	N	-	19	17362941	17362941	A	C	snp	intronic	 	 	 	 	USHBP1	Ushbp1	ENSG00000130307	USH1 protein network component harmonin binding protein 1	chr19:17359985-17393595			 				GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USHBP1	https://www.uniprot.org/uniprot/Q8N6Y0		https://www.ncbi.nlm.nih.gov/omim/?term=611810	http://www.informatics.jax.org/searchtool/Search.do?query=USHBP1&submit=Quick%0D%6351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USHBP1	rs7247493	0.764577	0	0	1	0	0	intronic	intronic	intronic	USHBP1	USHBP1	ENSG00000130307,ENSG00000269095	Na	Na	Na	Na	Na	Na	Het;A>C	123;1|5	Hom;A>C	178;0|6
N	N	-	19	17366278	17366278	T	C	snp	synonymous SNV	A486G	A162A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	USHBP1	Ushbp1	ENSG00000130307	USH1 protein network component harmonin binding protein 1	chr19:17359985-17393595			 				GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USHBP1	https://www.uniprot.org/uniprot/Q8N6Y0		https://www.ncbi.nlm.nih.gov/omim/?term=611810	http://www.informatics.jax.org/searchtool/Search.do?query=USHBP1&submit=Quick%0D%6351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USHBP1	rs4430871	0.779353	0.7101	0.6741	1	0	0	exonic	exonic	exonic	USHBP1	USHBP1	ENSG00000130307	synonymous SNV	synonymous SNV	unknown	USHBP1:NM_001297703:exon9:c.A1416G:p.A472A,USHBP1:NM_031941:exon10:c.A1608G:p.A536A,	USHBP1:uc002nfr.1:exon3:c.A486G:p.A162A,USHBP1:uc002nfs.1:exon10:c.A1608G:p.A536A,USHBP1:uc010xpk.1:exon9:c.A1416G:p.A472A,	UNKNOWN	Het;T>C	920;42|45	Hom;T>C	1869;1|70
N	N	-	19	17367435	17367435	T	C	snp	nonsynonymous SNV	A1123G	M375V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	USHBP1	Ushbp1	ENSG00000130307	USH1 protein network component harmonin binding protein 1	chr19:17359985-17393595			 				GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USHBP1	https://www.uniprot.org/uniprot/Q8N6Y0		https://www.ncbi.nlm.nih.gov/omim/?term=611810	http://www.informatics.jax.org/searchtool/Search.do?query=USHBP1&submit=Quick%0D%6351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USHBP1	rs9676419	0.329473	0.2949	0.2649	0.08	1	13	exonic	exonic	exonic	USHBP1	USHBP1	ENSG00000130307	nonsynonymous SNV	nonsynonymous SNV	unknown	USHBP1:NM_001297703:exon8:c.A1123G:p.M375V,USHBP1:NM_031941:exon9:c.A1315G:p.M439V,	USHBP1:uc002nfr.1:exon2:c.A193G:p.M65V,USHBP1:uc002nfs.1:exon9:c.A1315G:p.M439V,USHBP1:uc010xpk.1:exon8:c.A1123G:p.M375V,	UNKNOWN	Het;T>C	892;53|44	Hom;T>C	2353;4|91
N	N	-	19	17367585	17367585	G	C	snp	intronic	 	 	 	 	USHBP1	Ushbp1	ENSG00000130307	USH1 protein network component harmonin binding protein 1	chr19:17359985-17393595			 				GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/USHBP1	https://www.uniprot.org/uniprot/Q8N6Y0		https://www.ncbi.nlm.nih.gov/omim/?term=611810	http://www.informatics.jax.org/searchtool/Search.do?query=USHBP1&submit=Quick%0D%6351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USHBP1	rs4464206	0.784944	0	0	1	0	0	intronic	intronic	intronic	USHBP1	USHBP1	ENSG00000130307	Na	Na	Na	Na	Na	Na	Het;G>C	261;14|13	Hom;G>C	464;0|16
N	N	-	19	17382505	17382505	A	T	snp	intronic	 	 	 	 	BABAM1	Babam1	ENSG00000105393	BRISC and BRCA1 A complex member 1	chr19:17378159-17392058		Ovarian Neoplasms	 	G2/M DNA damage checkpoint	GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IMP|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010212;response to ionizing radiation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031572;G2 DNA damage checkpoint;IMP|GO:0045739;positive regulation of DNA repair;IEA|GO:0051301;cell division;IEA|GO:0070536;protein K63-linked deubiquitination;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0070531;BRCA1-A complex;IEA|GO:0070552;BRISC complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BABAM1	https://www.uniprot.org/uniprot/Q9NWV8		https://www.ncbi.nlm.nih.gov/omim/?term=612766	http://www.informatics.jax.org/searchtool/Search.do?query=BABAM1&submit=Quick%0D%3295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BABAM1	rs10420922	0.463059	0.5100	0.4367	1	0	0	intronic	intronic	intronic	BABAM1	BABAM1	ENSG00000105393,ENSG00000130307,ENSG00000269307	Na	Na	Na	Na	Na	Na	Het;A>T	917;66|49	Hom;A>T	2299;0|85
N	N	-	19	17760232	17760232	C	T	snp	intronic	 	 	 	 	UNC13A	Unc13a	ENSG00000130477	unc-13 homolog A	chr19:17712137-17799401	This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]	Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder; Amyotrophic lateral sclerosis; Hemoglobins; Amyotrophic Lateral Sclerosis	Homozygous mutant mice do not feed and die within hours of birth and synaptic vesicle maturation is impaired. Mice homozygous for a knock-in allele exhibit slower rate of synaptic vesicle replenishment, aberrant short-term depression and reduced recoveryfrom synaptic depression.		GO:0001956;positive regulation of neurotransmitter secretion;IEA|GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007269;neurotransmitter secretion;ISS|GO:0007528;neuromuscular junction development;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0016081;synaptic vesicle docking;IEA|GO:0016082;synaptic vesicle priming;IEA|GO:0016188;synaptic vesicle maturation;IEA|GO:0030154;cell differentiation;IEA|GO:0031915;positive regulation of synaptic plasticity;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0048172;regulation of short-term neuronal synaptic plasticity;IEA|GO:0050435;beta-amyloid metabolic process;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;TAS|GO:0060384;innervation;IEA|GO:0099525;presynaptic dense core vesicle exocytosis;IEA|GO:1900451;positive regulation of glutamate receptor signaling pathway;IEA|GO:1902991;regulation of amyloid precursor protein catabolic process;IEA|GO:1903861;positive regulation of dendrite extension;IDA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0031594;neuromuscular junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;ISS|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA	GO:0005516;calmodulin binding;ISS|GO:0017075;syntaxin-1 binding;ISS|GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/UNC13A	https://www.uniprot.org/uniprot/Q9UPW8	https://hpo.jax.org/app/browse/search?q=UNC13A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609894	http://www.informatics.jax.org/searchtool/Search.do?query=UNC13A&submit=Quick%0D%6374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13A	rs11665838	0.212061	0.2479	0	1	0	0	intronic	intronic	intronic	UNC13A	UNC13A	ENSG00000130477	Na	Na	Na	Na	Na	Na	Het;C>T	257;13|10	Hom;C>T	535;0|17
N	N	-	19	1782798	1782798	A	G	snp	UTR3	*229T>C	 	 	 	ATP8B3	Atp8b3	ENSG00000130270	ATPase phospholipid transporting 8B3	chr19:1782074-1812275	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Bipolar Disorder	Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0002080;acrosomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8B3	https://www.uniprot.org/uniprot/O60423		https://www.ncbi.nlm.nih.gov/omim/?term=605866	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B3&submit=Quick%0D%6342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B3	rs757528	0.423323	0	0	1	0	0	UTR3	UTR3	UTR3	ATP8B3(NM_001178002:c.*229T>C,NM_138813:c.*229T>C)	ATP8B3(uc002ltv.4:c.*229T>C,uc002ltw.4:c.*229T>C)	ENSG00000130270(ENST00000310127:c.*229T>C,ENST00000539485:c.*229T>C,ENST00000531925:c.*4015T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1553;70|67	Hom;A>G	3451;0|120
N	N	-	19	1789556	1789556	C	T	snp	synonymous SNV	G2538A	Q846Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ATP8B3	Atp8b3	ENSG00000130270	ATPase phospholipid transporting 8B3	chr19:1782074-1812275	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Bipolar Disorder	Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0002080;acrosomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8B3	https://www.uniprot.org/uniprot/O60423		https://www.ncbi.nlm.nih.gov/omim/?term=605866	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B3&submit=Quick%0D%6342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B3	rs12978609	0.309704	0.2548	0.3169	1	0	0	exonic	exonic	exonic	ATP8B3	ATP8B3	ENSG00000130270	synonymous SNV	synonymous SNV	unknown	ATP8B3:NM_001178002:exon23:c.G2538A:p.Q846Q,ATP8B3:NM_138813:exon23:c.G2649A:p.Q883Q,	ATP8B3:uc002ltv.4:exon23:c.G2538A:p.Q846Q,ATP8B3:uc002ltw.4:exon23:c.G2649A:p.Q883Q,	UNKNOWN	Het;C>T	401;40|21	Hom;C>T	2766;0|96
N	N	-	19	18170265	18170265	T	TC	indel	UTR3	*153A>GA	 	 	 	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs3833286	0.458466	0	0	1	0	0	UTR3	downstream	UTR3	IL12RB1(NM_001290023:c.*146A>GA,NM_001290024:c.*153A>GA,NM_005535:c.*153A>GA)	IL12RB1	ENSG00000096996(ENST00000600835:c.*153A>GA,ENST00000593993:c.*153A>GA)	Na	Na	Na	Na	Na	Na	Het;+C	175;20|8	Hom;+C	630;0|21
N	N	-	19	18170384	18170384	G	A	snp	UTR3	*34C>T	 	 	 	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs3746190	0.186302	0.2849	0.3090	1	0	0	UTR3	UTR3	UTR3	IL12RB1(NM_001290023:c.*27C>T,NM_001290024:c.*34C>T,NM_005535:c.*34C>T)	IL12RB1(uc002nhw.1:c.*34C>T,uc010xqb.1:c.*27C>T,uc002nhx.1:c.*34C>T)	ENSG00000096996(ENST00000600835:c.*34C>T,ENST00000593993:c.*34C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	960;45|47	Hom;G>A	3335;0|123
N	N	-	19	18180413	18180413	C	G	snp	nonsynonymous SNV	G1132C	G378R	aliphatic,neutral	polar,hydrophilic,charged(+)	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs401502	0.251597	0.2726	0.2841	0.09	1	11	exonic	exonic	exonic	IL12RB1	IL12RB1	ENSG00000096996	nonsynonymous SNV	nonsynonymous SNV	unknown	IL12RB1:NM_005535:exon10:c.G1132C:p.G378R,IL12RB1:NM_001290023:exon10:c.G1132C:p.G378R,IL12RB1:NM_001290024:exon11:c.G1252C:p.G418R,	IL12RB1:uc002nhw.1:exon10:c.G1132C:p.G378R,IL12RB1:uc010xqb.1:exon10:c.G1132C:p.G378R,IL12RB1:uc002nhx.1:exon11:c.G1252C:p.G418R,	UNKNOWN	Het;C>G	742;36|36	Hom;C>G	1469;4|62
N	N	-	19	18180451	18180451	A	G	snp	nonsynonymous SNV	T1094C	M365T	hydrophobic,neutral	polar,hydrophilic,neutral	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs375947	0.26857	0.2934	0.2894	0.09	1	11	exonic	exonic	exonic	IL12RB1	IL12RB1	ENSG00000096996	nonsynonymous SNV	nonsynonymous SNV	unknown	IL12RB1:NM_005535:exon10:c.T1094C:p.M365T,IL12RB1:NM_001290023:exon10:c.T1094C:p.M365T,IL12RB1:NM_001290024:exon11:c.T1214C:p.M405T,	IL12RB1:uc002nhw.1:exon10:c.T1094C:p.M365T,IL12RB1:uc010xqb.1:exon10:c.T1094C:p.M365T,IL12RB1:uc002nhx.1:exon11:c.T1214C:p.M405T,	UNKNOWN	Het;A>G	792;49|42	Hom;A>G	1762;2|69
N	N	-	19	18186575	18186575	G	A	snp	synonymous SNV	C684T	P228P	hydrophobic,neutral	hydrophobic,neutral	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs17852635	0.229832	0.2540	0.2772	1	0	0	exonic	exonic	exonic	IL12RB1	IL12RB1	ENSG00000096996	synonymous SNV	synonymous SNV	unknown	IL12RB1:NM_005535:exon7:c.C684T:p.P228P,IL12RB1:NM_001290023:exon7:c.C684T:p.P228P,IL12RB1:NM_001290024:exon8:c.C804T:p.P268P,IL12RB1:NM_153701:exon7:c.C684T:p.P228P,	IL12RB1:uc002nhw.1:exon7:c.C684T:p.P228P,IL12RB1:uc010xqb.1:exon7:c.C684T:p.P228P,IL12RB1:uc002nhy.3:exon7:c.C684T:p.P228P,IL12RB1:uc002nhx.1:exon8:c.C804T:p.P268P,	UNKNOWN	Het;G>A	965;36|44	Hom;G>A	1765;0|63
N	N	-	19	18186618	18186618	T	C	snp	nonsynonymous SNV	A641G	Q214R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs11575934	0.229433	0.2532	0.2771	0.08	1	12	exonic	exonic	exonic	IL12RB1	IL12RB1	ENSG00000096996	nonsynonymous SNV	nonsynonymous SNV	unknown	IL12RB1:NM_005535:exon7:c.A641G:p.Q214R,IL12RB1:NM_001290023:exon7:c.A641G:p.Q214R,IL12RB1:NM_001290024:exon8:c.A761G:p.Q254R,IL12RB1:NM_153701:exon7:c.A641G:p.Q214R,	IL12RB1:uc002nhw.1:exon7:c.A641G:p.Q214R,IL12RB1:uc010xqb.1:exon7:c.A641G:p.Q214R,IL12RB1:uc002nhy.3:exon7:c.A641G:p.Q214R,IL12RB1:uc002nhx.1:exon8:c.A761G:p.Q254R,	UNKNOWN	Het;T>C	993;43|48	Hom;T>C	2463;0|93
N	N	-	19	18186752	18186752	T	C	snp	intronic	 	 	 	 	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs429774	0.252596	0	0	1	0	0	intronic	intronic	intronic	IL12RB1	IL12RB1	ENSG00000096996	Na	Na	Na	Na	Na	Na	Het;T>C	590;25|27	Hom;T>C	911;0|35
N	N	-	19	18197635	18197635	G	A	snp	nonsynonymous SNV	C119T	P40L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs436857	0.127596	0.1754	0.1996	1	0	0	exonic	exonic	UTR5	IL12RB1	IL12RB1	ENSG00000096996(ENST00000600835:c.-2C>T,ENST00000593993:c.-2C>T,ENST00000322153:c.-2C>T,ENST00000430026:c.-2C>T,ENST00000598019:c.-2C>T,ENST00000594176:c.-2C>T)	nonsynonymous SNV	nonsynonymous SNV	Na	IL12RB1:NM_001290024:exon2:c.C119T:p.P40L,	IL12RB1:uc002nhx.1:exon2:c.C119T:p.P40L,	Na	Het;G>A	1501;54|71	Hom;G>A	3188;0|120
N	N	-	19	18197744	18197744	T	A	snp	splicing	12-2A>T	 	 	 	IL12RB1	Il12rb1	ENSG00000096996	interleukin 12 receptor subunit beta 1	chr19:18169805-18209754	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12.	Interleukin-12 family signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA	GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1	https://www.uniprot.org/uniprot/P42701	https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601604	http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1	rs393548	0.181909	0	0.2261	1	0	0	splicing	splicing	splicing	IL12RB1(NM_001290024:exon2:c.12-2A>T)	IL12RB1(uc002nhx.1:exon2:c.12-2A>T)	ENSG00000096996	Na	Na	Na	Na	Na	Na	Het;T>A	891;27|38	Hom;T>A	1969;0|70
N	N	-	19	18218444	18218444	A	G	snp	intronic	 	 	 	 	MAST3	Mast3	ENSG00000099308	microtubule associated serine/threonine kinase 3	chr19:18208603-18262502			 		GO:0006468;protein phosphorylation;IEA|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST3	https://www.uniprot.org/uniprot/O60307		https://www.ncbi.nlm.nih.gov/omim/?term=612258	http://www.informatics.jax.org/searchtool/Search.do?query=MAST3&submit=Quick%0D%2308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST3	rs62123561	0.320687	0.3755	0.3957	1	0	0	intronic	intronic	intronic	MAST3	MAST3	ENSG00000099308	Na	Na	Na	Na	Na	Na	Het;A>G	668;47|34	Hom;A>G	2369;0|90
N	N	-	19	18234588	18234588	C	T	snp	intronic	 	 	 	 	MAST3	Mast3	ENSG00000099308	microtubule associated serine/threonine kinase 3	chr19:18208603-18262502			 		GO:0006468;protein phosphorylation;IEA|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST3	https://www.uniprot.org/uniprot/O60307		https://www.ncbi.nlm.nih.gov/omim/?term=612258	http://www.informatics.jax.org/searchtool/Search.do?query=MAST3&submit=Quick%0D%2308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST3	rs11666281	0.166534	0	0	1	0	0	intronic	intronic	intronic	MAST3	MAST3	ENSG00000099308	Na	Na	Na	Na	Na	Na	Het;C>T	33;6|3	Hom;C>T	287;0|9
N	N	-	19	18279816	18279816	A	G	snp	intronic	 	 	 	 	PIK3R2	Pik3r2	ENSG00000105647	phosphoinositide-3-kinase regulatory subunit 2	chr19:18263968-18288927	Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]	plasma HDL cholesterol (HDL-C) levels	Mice homozygous for disruptions in this gene have lower blood glucose levels both when fed and after fasting.  Insulin sensitivity is improved as well.	Regulation of signaling by CBL	GO:0001678;cellular glucose homeostasis;ISS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0010506;regulation of autophagy;IMP|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015031;protein transport;IEA|GO:0032869;cellular response to insulin stimulus;ISS|GO:0034976;response to endoplasmic reticulum stress;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042993;positive regulation of transcription factor import into nucleus;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046854;phosphatidylinositol phosphorylation;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:2001275;positive regulation of glucose import in response to insulin stimulus;ISS	GO:0005634;nucleus;ISS|GO:0005829;cytosol;TAS|GO:0005942;phosphatidylinositol 3-kinase complex;IBA	GO:0001784;phosphotyrosine binding;IPI|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0019903;protein phosphatase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0035014;phosphatidylinositol 3-kinase regulator activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046935;1-phosphatidylinositol-3-kinase regulator activity;IBA|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PIK3R2	https://www.uniprot.org/uniprot/O00459	https://hpo.jax.org/app/browse/search?q=PIK3R2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603157	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3R2&submit=Quick%0D%3351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3R2	rs3746187	0.237819	0	0	1	0	0	intronic	intronic	intronic	PIK3R2	PIK3R2	ENSG00000105647,ENSG00000268173	Na	Na	Na	Na	Na	Na	Het;A>G	471;13|19	Hom;A>G	597;0|20
N	N	-	19	18285944	18285944	G	A	snp	nonsynonymous SNV	G227A	R76Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	IFI30	Ifi30	ENSG00000216490	IFI30, lysosomal thiol reductase	chr19:18283972-18288927	The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]	Celiac Disease|	No phenotypic abormalities have been reported in mice homozygous for disruptions in this gene other than reduced efficiency in processing some antigens.	Interferon gamma signaling	GO:0002376;immune system process;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0042590;antigen processing and presentation of exogenous peptide antigen via MHC class I;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016667;oxidoreductase activity, acting on a sulfur group of donors;IMP	http://www.genecards.org/index.php?path=/Search/keyword/IFI30			https://www.ncbi.nlm.nih.gov/omim/?term=604664	http://www.informatics.jax.org/searchtool/Search.do?query=IFI30&submit=Quick%0D%18368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI30	rs11554159	0.181709	0.2442	0.2554	0.64	7	11	exonic	exonic	exonic	IFI30	IFI30	ENSG00000216490	nonsynonymous SNV	nonsynonymous SNV	unknown	IFI30:NM_006332:exon2:c.G227A:p.R76Q,	IFI30:uc002nic.1:exon2:c.G227A:p.R76Q,	UNKNOWN	Het;G>A	1359;61|66	Hom;G>A	2826;0|101
N	N	-	19	18286546	18286546	T	A	snp	intronic	 	 	 	 	IFI30	Ifi30	ENSG00000216490	IFI30, lysosomal thiol reductase	chr19:18283972-18288927	The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]	Celiac Disease|	No phenotypic abormalities have been reported in mice homozygous for disruptions in this gene other than reduced efficiency in processing some antigens.	Interferon gamma signaling	GO:0002376;immune system process;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0042590;antigen processing and presentation of exogenous peptide antigen via MHC class I;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016667;oxidoreductase activity, acting on a sulfur group of donors;IMP	http://www.genecards.org/index.php?path=/Search/keyword/IFI30			https://www.ncbi.nlm.nih.gov/omim/?term=604664	http://www.informatics.jax.org/searchtool/Search.do?query=IFI30&submit=Quick%0D%18368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI30	rs200373	0.416134	0.5235	0.4786	1	0	0	intronic	intronic	intronic	IFI30	IFI30	ENSG00000216490,ENSG00000268173	Na	Na	Na	Na	Na	Na	Het;T>A	692;34|32	Hom;T>A	1670;0|62
N	N	-	19	18288069	18288069	A	G	snp	synonymous SNV	A603G	P201P	hydrophobic,neutral	hydrophobic,neutral	IFI30	Ifi30	ENSG00000216490	IFI30, lysosomal thiol reductase	chr19:18283972-18288927	The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]	Celiac Disease|	No phenotypic abormalities have been reported in mice homozygous for disruptions in this gene other than reduced efficiency in processing some antigens.	Interferon gamma signaling	GO:0002376;immune system process;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0042590;antigen processing and presentation of exogenous peptide antigen via MHC class I;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016667;oxidoreductase activity, acting on a sulfur group of donors;IMP	http://www.genecards.org/index.php?path=/Search/keyword/IFI30			https://www.ncbi.nlm.nih.gov/omim/?term=604664	http://www.informatics.jax.org/searchtool/Search.do?query=IFI30&submit=Quick%0D%18368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI30	rs7125	0.425319	0.5418	0.5280	1	0	0	exonic	exonic	exonic	IFI30	IFI30	ENSG00000216490	synonymous SNV	synonymous SNV	unknown	IFI30:NM_006332:exon5:c.A603G:p.P201P,	IFI30:uc002nic.1:exon5:c.A603G:p.P201P,	UNKNOWN	Het;A>G	1064;68|53	Hom;A>G	2634;2|99
N	N	-	19	18304700	18304700	A	G	snp	nonsynonymous SNV	A214G	M72V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	MPV17L2	Mpv17l2	ENSG00000254858	MPV17 mitochondrial inner membrane protein like 2	chr19:18303992-18307758		Acquired Immunodeficiency Syndrome|Disease Progression; Multiple Sclerosis	 		GO:0061668;mitochondrial ribosome assembly;IMP|GO:0070131;positive regulation of mitochondrial translation;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MPV17L2			https://www.ncbi.nlm.nih.gov/omim/?term=616133	http://www.informatics.jax.org/searchtool/Search.do?query=MPV17L2&submit=Quick%0D%20089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPV17L2	rs874628	0.17472	0.2478	0.2345	0.64	7	11	exonic	exonic	exonic	MPV17L2	MPV17L2	ENSG00000254858	nonsynonymous SNV	nonsynonymous SNV	unknown	MPV17L2:NM_032683:exon2:c.A214G:p.M72V,	MPV17L2:uc010ebj.3:exon1:c.A22G:p.M8V,MPV17L2:uc002nid.3:exon2:c.A214G:p.M72V,	UNKNOWN	Het;A>G	318;13|17	Hom;A>G	752;0|29
N	N	-	19	18305578	18305578	G	C	snp	intronic	 	 	 	 	MPV17L2	Mpv17l2	ENSG00000254858	MPV17 mitochondrial inner membrane protein like 2	chr19:18303992-18307758		Acquired Immunodeficiency Syndrome|Disease Progression; Multiple Sclerosis	 		GO:0061668;mitochondrial ribosome assembly;IMP|GO:0070131;positive regulation of mitochondrial translation;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MPV17L2			https://www.ncbi.nlm.nih.gov/omim/?term=616133	http://www.informatics.jax.org/searchtool/Search.do?query=MPV17L2&submit=Quick%0D%20089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPV17L2	rs16982263	0.465056	0.6537	0.6059	1	0	0	intronic	intronic	intronic	MPV17L2	MPV17L2	ENSG00000254858	Na	Na	Na	Na	Na	Na	Het;G>C	431;10|15	Hom;G>C	996;0|36
N	N	-	19	18305824	18305824	C	T	snp	nonsynonymous SNV	C223T	P75S	hydrophobic,neutral	polar,hydrophilic,neutral	MPV17L2	Mpv17l2	ENSG00000254858	MPV17 mitochondrial inner membrane protein like 2	chr19:18303992-18307758		Acquired Immunodeficiency Syndrome|Disease Progression; Multiple Sclerosis	 		GO:0061668;mitochondrial ribosome assembly;IMP|GO:0070131;positive regulation of mitochondrial translation;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MPV17L2			https://www.ncbi.nlm.nih.gov/omim/?term=616133	http://www.informatics.jax.org/searchtool/Search.do?query=MPV17L2&submit=Quick%0D%20089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPV17L2	rs2271881	0.244808	0.3237	0.3024	1	0	0	exonic	exonic	exonic	MPV17L2	MPV17L2	ENSG00000254858	synonymous SNV	nonsynonymous SNV	unknown	MPV17L2:NM_032683:exon4:c.C492T:p.P164P,	MPV17L2:uc010ebj.3:exon2:c.C223T:p.P75S,	UNKNOWN	Het;C>T	575;65|32	Hom;C>T	2362;0|90
N	N	-	19	18309365	18309365	A	G	snp	intronic	 	 	 	 	RAB3A	Rab3a	ENSG00000105649	RAB3A, member RAS oncogene family	chr19:18307594-18314884		mental retardation	Homozygous null mutants show impaired synaptic transmission, insulin secretion and glucose intolerance. This mutation and another chemically induced allele affect circadian period and sleep patterns. Heterozygotes show milder circadian rhythm anomalies.	GABA synthesis, release, reuptake and degradation	GO:0003016;respiratory system process;IEA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007274;neuromuscular synaptic transmission;IEA|GO:0007409;axonogenesis;IEA|GO:0009791;post-embryonic development;IEA|GO:0014047;glutamate secretion;TAS|GO:0015031;protein transport;IEA|GO:0016079;synaptic vesicle exocytosis;ISS|GO:0016188;synaptic vesicle maturation;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0030324;lung development;IEA|GO:0031630;regulation of synaptic vesicle fusion to presynaptic active zone membrane;ISS|GO:0032781;positive regulation of ATPase activity;IEA|GO:0036465;synaptic vesicle recycling;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045054;constitutive secretory pathway;TAS|GO:0045921;positive regulation of exocytosis;TAS|GO:0048172;regulation of short-term neuronal synaptic plasticity;ISS|GO:0048790;maintenance of presynaptic active zone structure;IEA|GO:0050975;sensory perception of touch;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0061024;membrane organization;TAS|GO:0061670;evoked neurotransmitter secretion;IEA|GO:1903307;positive regulation of regulated secretory pathway;IMP	GO:0001669;acrosomal vesicle;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0030424;axon;ISS|GO:0030667;secretory granule membrane;TAS|GO:0043195;terminal bouton;ISS|GO:0043229;intracellular organelle;IEA|GO:0043234;protein complex;IEA|GO:0060201;clathrin-sculpted acetylcholine transport vesicle membrane;TAS|GO:0060203;clathrin-sculpted glutamate transport vesicle membrane;TAS|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS|GO:0098993;anchored component of synaptic vesicle membrane;IEA|GO:1903561;extracellular vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0001671;ATPase activator activity;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0030742;GTP-dependent protein binding;IEA|GO:0031489;myosin V binding;IPI|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAB3A	https://www.uniprot.org/uniprot/P20336		https://www.ncbi.nlm.nih.gov/omim/?term=179490	http://www.informatics.jax.org/searchtool/Search.do?query=RAB3A&submit=Quick%0D%3352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3A	rs2271882	0.46246	0	0	1	0	0	intronic	intronic	intronic	RAB3A	RAB3A	ENSG00000105649	Na	Na	Na	Na	Na	Na	Het;A>G	64;2|3	Hom;A>G	199;0|7
N	N	-	19	18324329	18324329	C	T	snp	ncRNA_intronic	 	 	 	 	AC005759.1																		rs2302209	0.165735	0.2429	0.2492	1	0	0	intronic	intronic	ncRNA_intronic	PDE4C	PDE4C	ENSG00000268650	Na	Na	Na	Na	Na	Na	Het;C>T	298;34|18	Hom;C>T	1310;0|49
N	N	-	19	18329240	18329240	T	C	snp	synonymous SNV	A816G	E272E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PDE4C	Pde4c	ENSG00000105650	phosphodiesterase 4C	chr19:18318771-18366229	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone	 	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA	GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE4C	https://www.uniprot.org/uniprot/Q08493		https://www.ncbi.nlm.nih.gov/omim/?term=600128	http://www.informatics.jax.org/searchtool/Search.do?query=PDE4C&submit=Quick%0D%3353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4C	rs1042050	0.419928	0.5692	0.5435	1	0	0	exonic	exonic	exonic	PDE4C	PDE4C	ENSG00000105650	synonymous SNV	synonymous SNV	unknown	PDE4C:NM_001098818:exon10:c.A1038G:p.E346E,PDE4C:NM_000923:exon11:c.A1134G:p.E378E,PDE4C:NM_001098819:exon10:c.A816G:p.E272E,	PDE4C:uc010ebk.3:exon10:c.A816G:p.E272E,PDE4C:uc002nil.4:exon14:c.A1134G:p.E378E,PDE4C:uc010xqc.2:exon10:c.A1134G:p.E378E,PDE4C:uc002nii.4:exon10:c.A1038G:p.E346E,PDE4C:uc002nif.4:exon9:c.A441G:p.E147E,PDE4C:uc002nih.4:exon5:c.A444G:p.E148E,PDE4C:uc010ebl.3:exon8:c.A276G:p.E92E,PDE4C:uc002nik.4:exon11:c.A1134G:p.E378E,	UNKNOWN	Het;T>C	1701;62|75	Hom;T>C	3382;0|116
N	N	-	19	18331357	18331358	AC	A	indel	unknown	 	 	 	 	PDE4C	Pde4c	ENSG00000105650	phosphodiesterase 4C	chr19:18318771-18366229	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone	 	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA	GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE4C	https://www.uniprot.org/uniprot/Q08493		https://www.ncbi.nlm.nih.gov/omim/?term=600128	http://www.informatics.jax.org/searchtool/Search.do?query=PDE4C&submit=Quick%0D%3353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4C	rs5827400	0.41893	0.5723	0.5763	1	0	0	intronic	UTR5	exonic	PDE4C	PDE4C(uc010ebl.3:c.-1206_-1207delinsT)	ENSG00000105650	Na	Na	unknown	Na	Na	UNKNOWN	Het;-C	2019;53|78	Hom;-C	3059;6|124
N	N	-	19	18331859	18331859	T	TCCGCCAGGCCCCGCCCCACC	indel	UTR5	-1708A>GGTGGGGCGGGGCCTGGCGGA	 	 	 	PDE4C	Pde4c	ENSG00000105650	phosphodiesterase 4C	chr19:18318771-18366229	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone	 	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA	GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE4C	https://www.uniprot.org/uniprot/Q08493		https://www.ncbi.nlm.nih.gov/omim/?term=600128	http://www.informatics.jax.org/searchtool/Search.do?query=PDE4C&submit=Quick%0D%3353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4C	rs533243837	0.415136	0.4268	0	1	0	0	intronic	UTR5	intronic	PDE4C	PDE4C(uc010ebl.3:c.-1708A>GGTGGGGCGGGGCCTGGCGGA)	ENSG00000105650	Na	Na	Na	Na	Na	Na	Het;+CCGCCAGGCCCCGCCCCACC	139;11|5	Hom;+CCGCCAGGCCCCGCCCCACC	571;0|14
N	N	-	19	18333273	18333273	A	G	snp	intronic	 	 	 	 	PDE4C	Pde4c	ENSG00000105650	phosphodiesterase 4C	chr19:18318771-18366229	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone	 	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA	GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE4C	https://www.uniprot.org/uniprot/Q08493		https://www.ncbi.nlm.nih.gov/omim/?term=600128	http://www.informatics.jax.org/searchtool/Search.do?query=PDE4C&submit=Quick%0D%3353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4C	rs2074973	0.421126	0	0	1	0	0	intronic	intronic	intronic	PDE4C	PDE4C	ENSG00000105650	Na	Na	Na	Na	Na	Na	Het;A>G	97;4|4	Hom;A>G	382;0|12
N	N	-	19	18466840	18466840	C	T	snp	intronic	 	 	 	 	PGPEP1	Pgpep1	ENSG00000130517	pyroglutamyl-peptidase I	chr19:18451397-18480760	The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]	Coronary Artery Disease; Schizophrenia; Mental Disorders; Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016920;pyroglutamyl-peptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PGPEP1	https://www.uniprot.org/uniprot/Q9NXJ5		https://www.ncbi.nlm.nih.gov/omim/?term=610694	http://www.informatics.jax.org/searchtool/Search.do?query=PGPEP1&submit=Quick%0D%6381ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PGPEP1	rs34068189	0.299321	0.4086	0.4408	1	0	0	intronic	intronic	intronic	PGPEP1	PGPEP1	ENSG00000130517	Na	Na	Na	Na	Na	Na	Het;C>T	1157;71|53	Hom;C>T	3172;0|116
N	N	-	19	18778445	18778445	C	G	snp	unknown	 	 	 	 	KLHL26	Klhl26	ENSG00000167487	kelch like family member 26	chr19:18747775-18781309		Cleft Lip	 		GO:0007286;spermatid development;IBA|GO:0008584;male gonad development;IBA|GO:0009566;fertilization;IBA|GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IBA|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL26				http://www.informatics.jax.org/searchtool/Search.do?query=KLHL26&submit=Quick%0D%12021ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL26	rs10421503	0.73143	0.7177	0.6573	1	0	0	intronic	intronic	exonic	KLHL26	KLHL26	ENSG00000167487	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>G	1069;77|54	Hom;C>G	2850;0|105
N	N	-	19	18852847	18852847	A	G	snp	intronic	 	 	 	 	CRTC1	Crtc1	ENSG00000105662	CREB regulated transcription coactivator 1	chr19:18794487-18893004		Type 2 Diabetes| edema | rosiglitazone; Menarche; Obesity	Mice homozygous for an inactivating mutation in this gene are hyperphagic, obese and infertile.	Circadian Clock	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007613;memory;IEA|GO:0016032;viral process;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IBA|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048511;rhythmic process;IEA|GO:0051289;protein homotetramerization;IEA|GO:0097009;energy homeostasis;IEA|GO:1900006;positive regulation of dendrite development;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902631;negative regulation of membrane hyperpolarization;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016604;nuclear body;IDA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CRTC1	https://www.uniprot.org/uniprot/Q6UUV9		https://www.ncbi.nlm.nih.gov/omim/?term=607536	http://www.informatics.jax.org/searchtool/Search.do?query=CRTC1&submit=Quick%0D%3356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRTC1	rs56182405	0.251797	0	0	1	0	0	intronic	intronic	intronic	CRTC1	CRTC1	ENSG00000105662	Na	Na	Na	Na	Na	Na	Het;A>G	44;5|4	Hom;A>G	120;0|6
N	N	-	19	18989455	18989455	A	G	snp	UTR3	*280T>C	 	 	 	CERS1	Cers1	ENSG00000223802	ceramide synthase 1	chr19:18979361-19007536	This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]	TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED 3	Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan.	Sphingolipid de novo biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0035690;cellular response to drug;IDA|GO:0036146;cellular response to mycotoxin;IDA|GO:0046513;ceramide biosynthetic process;IDA|GO:0051974;negative regulation of telomerase activity;IDA|GO:0071492;cellular response to UV-A;IDA|GO:0072721;cellular response to dithiothreitol;IDA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;ISS	GO:0003674;molecular_function;ND|GO:0008083;growth factor activity;IEA|GO:0050291;sphingosine N-acyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CERS1		https://hpo.jax.org/app/browse/search?q=CERS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606919	http://www.informatics.jax.org/searchtool/Search.do?query=CERS1&submit=Quick%0D%18508ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CERS1	rs4808164	0.853435	0	0	1	0	0	UTR3	UTR3	UTR3	CERS1(NM_198207:c.*280T>C,NM_001290265:c.*280T>C)	CERS1(uc002nkj.3:c.*280T>C,uc010ebx.3:c.*280T>C)	ENSG00000223802(ENST00000429504:c.*280T>C,ENST00000542296:c.*280T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	66;5|4	Hom;A>G	92;0|4
N	N	-	19	18990982	18990982	C	T	snp	intronic	 	 	 	 	CERS1	Cers1	ENSG00000223802	ceramide synthase 1	chr19:18979361-19007536	This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]	TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED 3	Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan.	Sphingolipid de novo biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0035690;cellular response to drug;IDA|GO:0036146;cellular response to mycotoxin;IDA|GO:0046513;ceramide biosynthetic process;IDA|GO:0051974;negative regulation of telomerase activity;IDA|GO:0071492;cellular response to UV-A;IDA|GO:0072721;cellular response to dithiothreitol;IDA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;ISS	GO:0003674;molecular_function;ND|GO:0008083;growth factor activity;IEA|GO:0050291;sphingosine N-acyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CERS1		https://hpo.jax.org/app/browse/search?q=CERS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606919	http://www.informatics.jax.org/searchtool/Search.do?query=CERS1&submit=Quick%0D%18508ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CERS1	rs2018392	0.862819	0	0	1	0	0	intronic	intronic	intronic	CERS1,GDF1	CERS1,GDF1	ENSG00000130283,ENSG00000223802	Na	Na	Na	Na	Na	Na	Het;C>T	33;3|2	Hom;C>T	96;0|4
N	N	-	19	18995201	18995201	C	T	snp	intronic	 	 	 	 	CERS1	Cers1	ENSG00000223802	ceramide synthase 1	chr19:18979361-19007536	This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]	TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED 3	Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan.	Sphingolipid de novo biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0035690;cellular response to drug;IDA|GO:0036146;cellular response to mycotoxin;IDA|GO:0046513;ceramide biosynthetic process;IDA|GO:0051974;negative regulation of telomerase activity;IDA|GO:0071492;cellular response to UV-A;IDA|GO:0072721;cellular response to dithiothreitol;IDA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;ISS	GO:0003674;molecular_function;ND|GO:0008083;growth factor activity;IEA|GO:0050291;sphingosine N-acyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CERS1		https://hpo.jax.org/app/browse/search?q=CERS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606919	http://www.informatics.jax.org/searchtool/Search.do?query=CERS1&submit=Quick%0D%18508ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CERS1	rs4808165	0.826877	0	0	1	0	0	intronic	intronic	intronic	CERS1,GDF1	CERS1,GDF1	ENSG00000130283,ENSG00000223802	Na	Na	Na	Na	Na	Na	Het;C>T	71;2|3	Hom;C>T	235;0|8
N	N	-	19	19224343	19224343	T	C	snp	downstream	 	 	 	 	SLC25A42	Slc25a42	ENSG00000181035	solute carrier family 25 member 42	chr19:19174808-19223697	This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0015866;ADP transport;IDA|GO:0015867;ATP transport;IDA|GO:0035349;coenzyme A transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA|GO:0080121;AMP transport;IDA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0005347;ATP transmembrane transporter activity;IDA|GO:0015217;ADP transmembrane transporter activity;IDA|GO:0015228;coenzyme A transmembrane transporter activity;IDA|GO:0043262;adenosine-diphosphatase activity;IDA|GO:0080122;AMP transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A42			https://www.ncbi.nlm.nih.gov/omim/?term=610823	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A42&submit=Quick%0D%14575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A42	rs10221504	0.859625	0	0	1	0	0	downstream	downstream	downstream	SLC25A42	SLC25A42	ENSG00000181035	Na	Na	Na	Na	Na	Na	Het;T>C	80;6|5	Hom;T>C	381;0|13
N	N	-	19	19230868	19230868	A	G	snp	synonymous SNV	T1311C	A437A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM161A	Tmem161a	ENSG00000064545	transmembrane protein 161A	chr19:19229978-19249322		Hemoglobin A, Glycosylated	 		GO:0032526;response to retinoic acid;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0034644;cellular response to UV;IDA|GO:0045739;positive regulation of DNA repair;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM161A	https://www.uniprot.org/uniprot/Q9NX61			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM161A&submit=Quick%0D%1133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM161A	rs756791	0.877596	0.8450	0.8401	1	0	0	exonic	exonic	exonic	TMEM161A	TMEM161A	ENSG00000064545	synonymous SNV	synonymous SNV	unknown	TMEM161A:NM_017814:exon12:c.T1311C:p.A437A,TMEM161A:NM_001256766:exon10:c.T1002C:p.A334A,	TMEM161A:uc002nlg.4:exon12:c.T1311C:p.A437A,TMEM161A:uc002nli.4:exon10:c.T1002C:p.A334A,	UNKNOWN	Het;A>G	859;22|40	Hom;A>G	1628;2|64
N	N	-	19	19231204	19231204	A	C	snp	intronic	 	 	 	 	TMEM161A	Tmem161a	ENSG00000064545	transmembrane protein 161A	chr19:19229978-19249322		Hemoglobin A, Glycosylated	 		GO:0032526;response to retinoic acid;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0034644;cellular response to UV;IDA|GO:0045739;positive regulation of DNA repair;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM161A	https://www.uniprot.org/uniprot/Q9NX61			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM161A&submit=Quick%0D%1133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM161A	rs756792	0.876797	0	0	1	0	0	intronic	intronic	intronic	TMEM161A	TMEM161A	ENSG00000064545	Na	Na	Na	Na	Na	Na	Het;A>C	90;3|5	Hom;A>C	327;0|13
N	N	-	19	19740729	19740729	C	G	snp	UTR3	*43G>C	 	 	 	GMIP	Gmip	ENSG00000089639	GEM interacting protein	chr19:19740285-19754476	This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Type 2 Diabetes| edema | rosiglitazone; depressive disorder, major	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IC|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GMIP	https://www.uniprot.org/uniprot/Q9P107		https://www.ncbi.nlm.nih.gov/omim/?term=609694	http://www.informatics.jax.org/searchtool/Search.do?query=GMIP&submit=Quick%0D%2069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GMIP	rs880090	0.694489	0.6747	0.7183	1	0	0	UTR3	UTR3	UTR3	GMIP(NM_016573:c.*43G>C,NM_001288999:c.*43G>C,NM_001288998:c.*43G>C)	GMIP(uc002nnd.3:c.*43G>C,uc010xrb.2:c.*43G>C,uc010xrc.2:c.*43G>C)	ENSG00000089639(ENST00000203556:c.*43G>C,ENST00000445806:c.*43G>C,ENST00000587238:c.*43G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	397;16|17	Hom;C>G	1199;0|40
N	N	-	19	19751456	19751456	C	A	snp	intronic	 	 	 	 	GMIP	Gmip	ENSG00000089639	GEM interacting protein	chr19:19740285-19754476	This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Type 2 Diabetes| edema | rosiglitazone; depressive disorder, major	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IC|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GMIP	https://www.uniprot.org/uniprot/Q9P107		https://www.ncbi.nlm.nih.gov/omim/?term=609694	http://www.informatics.jax.org/searchtool/Search.do?query=GMIP&submit=Quick%0D%2069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GMIP	rs2043293	0.814097	0	0	1	0	0	intronic	intronic	intronic	GMIP	GMIP	ENSG00000089639	Na	Na	Na	Na	Na	Na	Het;C>A	1025;30|44	Hom;C>A	1590;0|59
N	N	-	19	20748522	20748522	C	A	snp	UTR5	-76G>T	 	 	 	ZNF737	Zfp595	ENSG00000237440	zinc finger protein 737	chr19:20718631-20748615			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF737			https://www.ncbi.nlm.nih.gov/omim/?term=603984	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF737&submit=Quick%0D%19500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF737	rs12979592	0.250998	0.3340	0	1	0	0	UTR5	UTR5	ncRNA_intronic	ZNF737(NM_001159293:c.-76G>T)	ZNF737(uc002npa.3:c.-76G>T)	ENSG00000269110	Na	Na	Na	Na	Na	Na	Het;C>A	58;7|4	Hom;C>A	425;0|18
N	N	-	19	2098015	2098015	T	C	snp	intronic	 	 	 	 	IZUMO4	Izumo4	ENSG00000099840	IZUMO family member 4	chr19:2096380-2099592			 	Sperm:Oocyte Membrane Binding		GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA		http://www.genecards.org/index.php?path=/Search/keyword/IZUMO4	https://www.uniprot.org/uniprot/Q1ZYL8			http://www.informatics.jax.org/searchtool/Search.do?query=IZUMO4&submit=Quick%0D%2341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IZUMO4	rs7253456	0.254593	0.2126	0.2085	1	0	0	intronic	intronic	intronic	IZUMO4	IZUMO4	ENSG00000099840	Na	Na	Na	Na	Na	Na	Het;T>C	1858;82|91	Hom;T>C	4874;0|185
N	N	-	19	21607878	21607882	ATAAT	A	indel	UTR3	*92_*96delinsA	 	 	 	ZNF493	 	ENSG00000196268	zinc finger protein 493	chr19:21579921-21610375		Pain Measurement	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF493				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF493&submit=Quick%0D%16310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF493	rs34723025	0.290335	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF493(NM_175910:c.*92_*96delinsA,NM_001076678:c.*92_*96delinsA)	ZNF493(uc002npw.3:c.*92_*96delinsA,uc002npx.3:c.*92_*96delinsA,uc002npy.3:c.*92_*96delinsA)	ENSG00000196268(ENST00000392288:c.*92_*96delinsA,ENST00000355504:c.*92_*96delinsA)	Na	Na	Na	Na	Na	Na	Het;-TAAT	362;21|11	Hom;-TAAT	1043;0|24
N	N	-	19	21786807	21786807	G	A	snp	intergenic	 	 	 	 	AC123912.2																		rs2102920	0.58746	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF429(dist=65728),ZNF100(dist=120036)	BC033373(dist=9999),ZNF100(dist=120036)	ENSG00000268240(dist=9377),ENSG00000271182(dist=30828)	Na	Na	Na	Na	Na	Na	Het;G>A	50;3|4	Hom;G>A	142;0|6
N	N	-	19	21916767	21916767	G	A	snp	intronic	 	 	 	 	ZNF100	Zfp595	ENSG00000274746	zinc finger protein 100	chr19:21905568-21950430			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF100			https://www.ncbi.nlm.nih.gov/omim/?term=603982	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF100&submit=Quick%0D%21190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF100	rs4319879	0.691294	0	0	1	0	0	intronic	intronic	intronic	ZNF100	ZNF100	ENSG00000197020	Na	Na	Na	Na	Na	Na	Het;G>A	546;5|19	Hom;G>A	587;2|22
N	N	-	19	21953828	21953828	T	G	snp	ncRNA_intronic	 	 	 	 	AC092364.1																		rs7253749	0.81869	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ZNF100(dist=3398),ZNF43(dist=33923)	ZNF100(dist=3398),ZNF43(dist=33923)	ENSG00000268184	Na	Na	Na	Na	Na	Na	Het;T>G	85;2|4	Hom;T>G	245;0|9
N	N	-	19	2251512	2251512	T	A	snp	synonymous SNV	T1239A	G413G	aliphatic,neutral	aliphatic,neutral	AMH	Amh	ENSG00000104899	anti-Mullerian hormone	chr19:2249308-2252072	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]	thyroid cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; polycystic ovary syndrome; premature ovarian failure; Polycystic Ovary Syndrome; female infertility; epithelial ovarian cancer 	Homozygous null mutant males have a complete male reproductive tract and functional sperm, but also uterus and oviducts. Most are infertile due to female organs blocking sperm transfer. Females are fertile with enlarged ovaries and atypical follicles.	Signaling by BMP	GO:0001546;preantral ovarian follicle growth;IEA|GO:0001655;urogenital system development;IEA|GO:0001880;Mullerian duct regression;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007506;gonadal mesoderm development;IEA|GO:0007530;sex determination;TAS|GO:0007548;sex differentiation;TAS|GO:0007568;aging;IEA|GO:0008406;gonad development;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014070;response to organic cyclic compound;IEA|GO:0030154;cell differentiation;IEA|GO:0030509;BMP signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:2000355;negative regulation of ovarian follicle development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS	GO:0005102;receptor binding;IPI|GO:0005160;transforming growth factor beta receptor binding;IEA|GO:0005179;hormone activity;TAS|GO:0008083;growth factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AMH	https://www.uniprot.org/uniprot/P03971	https://hpo.jax.org/app/browse/search?q=AMH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600957	http://www.informatics.jax.org/searchtool/Search.do?query=AMH&submit=Quick%0D%3198ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMH	rs7252789	0.91893	0	0.8226	1	0	0	exonic	exonic	exonic	AMH	AMH	ENSG00000104899	synonymous SNV	synonymous SNV	unknown	AMH:NM_000479:exon5:c.T1239A:p.G413G,	AMH:uc002lvh.2:exon5:c.T1239A:p.G413G,	UNKNOWN	Het;T>A	53;2|4	Hom;T>A	186;0|7
N	N	-	19	2251817	2251817	T	C	snp	nonsynonymous SNV	T1544C	V515A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AMH	Amh	ENSG00000104899	anti-Mullerian hormone	chr19:2249308-2252072	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]	thyroid cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; polycystic ovary syndrome; premature ovarian failure; Polycystic Ovary Syndrome; female infertility; epithelial ovarian cancer 	Homozygous null mutant males have a complete male reproductive tract and functional sperm, but also uterus and oviducts. Most are infertile due to female organs blocking sperm transfer. Females are fertile with enlarged ovaries and atypical follicles.	Signaling by BMP	GO:0001546;preantral ovarian follicle growth;IEA|GO:0001655;urogenital system development;IEA|GO:0001880;Mullerian duct regression;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007506;gonadal mesoderm development;IEA|GO:0007530;sex determination;TAS|GO:0007548;sex differentiation;TAS|GO:0007568;aging;IEA|GO:0008406;gonad development;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014070;response to organic cyclic compound;IEA|GO:0030154;cell differentiation;IEA|GO:0030509;BMP signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:2000355;negative regulation of ovarian follicle development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS	GO:0005102;receptor binding;IPI|GO:0005160;transforming growth factor beta receptor binding;IEA|GO:0005179;hormone activity;TAS|GO:0008083;growth factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AMH	https://www.uniprot.org/uniprot/P03971	https://hpo.jax.org/app/browse/search?q=AMH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600957	http://www.informatics.jax.org/searchtool/Search.do?query=AMH&submit=Quick%0D%3198ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMH	rs10417628	0.990016	0.9820	0.9799	0.08	1	13	exonic	exonic	exonic	AMH	AMH	ENSG00000104899	nonsynonymous SNV	nonsynonymous SNV	unknown	AMH:NM_000479:exon5:c.T1544C:p.V515A,	AMH:uc002lvh.2:exon5:c.T1544C:p.V515A,	UNKNOWN	Het;T>C	711;56|36	Hom;T>C	2602;1|97
N	N	-	19	2253590	2253590	C	T	snp	intronic	 	 	 	 	JSRP1	Jsrp1	ENSG00000167476	junctional sarcoplasmic reticulum protein 1	chr19:2252251-2269758	The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]	Graves Disease|Graves' Disease	Mice homozygous for a null allele exhibit muscle weakness, abnormal voluntary movement and abnormal muscle physiology.		GO:0003009;skeletal muscle contraction;IDA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0033017;sarcoplasmic reticulum membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/JSRP1			https://www.ncbi.nlm.nih.gov/omim/?term=608743	http://www.informatics.jax.org/searchtool/Search.do?query=JSRP1&submit=Quick%0D%12019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JSRP1	rs3746158	0.557708	0.6269	0.6861	1	0	0	intronic	intronic	intronic	JSRP1	JSRP1	ENSG00000167476	Na	Na	Na	Na	Na	Na	Het;C>T	44;4|2	Hom;C>T	56;0|3
N	N	-	19	2255336	2255336	A	G	snp	unknown	 	 	 	 	JSRP1	Jsrp1	ENSG00000167476	junctional sarcoplasmic reticulum protein 1	chr19:2252251-2269758	The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]	Graves Disease|Graves' Disease	Mice homozygous for a null allele exhibit muscle weakness, abnormal voluntary movement and abnormal muscle physiology.		GO:0003009;skeletal muscle contraction;IDA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0033017;sarcoplasmic reticulum membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/JSRP1			https://www.ncbi.nlm.nih.gov/omim/?term=608743	http://www.informatics.jax.org/searchtool/Search.do?query=JSRP1&submit=Quick%0D%12019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JSRP1	rs886363	0.913339	0.8569	0.8322	0.25	1	4	UTR5	UTR5	exonic	JSRP1(NM_144616:c.-23T>C)	JSRP1(uc002lvj.2:c.-23T>C)	ENSG00000167476	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	347;30|20	Hom;A>G	663;0|22
N	N	-	19	22688178	22688178	G	T	snp	intronic	 	 	 	 	ZNF98	Zfp595	ENSG00000197360	zinc finger protein 98	chr19:22573821-22715287		Echocardiography; Hemoglobins; Calcium; Pulse; Telomere; Cholesterol, LDL; Myocardial Infarction; Keratoconus	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF98			https://www.ncbi.nlm.nih.gov/omim/?term=603980	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF98&submit=Quick%0D%16602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF98	rs10415137	0.519768	0	0	1	0	0	intergenic	intergenic	intronic	ZNF98(dist=83030),LOC101929124(dist=15619)	ZNF98(dist=83030),LOC440518(dist=90881)	ENSG00000197360	Na	Na	Na	Na	Na	Na	Het;G>T	63;8|4	Hom;G>T	534;0|20
N	N	-	19	22707258	22707258	A	G	snp	ncRNA_intronic	 	 	 	 	LOC101929124																		rs11667693	0.1248	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101929124	ZNF98(dist=102110),LOC440518(dist=71801)	ENSG00000260599	Na	Na	Na	Na	Na	Na	Het;A>G	294;7|9	Hom;A>G	451;0|12
N	N	-	19	22709703	22709703	C	G	snp	ncRNA_exonic	 	 	 	 	LOC101929124																		rs61622025	0	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929124	ZNF98(dist=104555),LOC440518(dist=69356)	ENSG00000260599	Na	Na	Na	Na	Na	Na	Het;C>G	1394;69|40	Hom;C>G	2698;0|62
N	N	-	19	22710305	22710305	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101929124																		rs11881824	0.19389	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929124	ZNF98(dist=105157),LOC440518(dist=68754)	ENSG00000260599	Na	Na	Na	Na	Na	Na	Het;G>A	428;7|16	Hom;G>A	618;0|20
N	N	-	19	22710570	22710570	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101929124																		rs73013307	0.15016	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929124	ZNF98(dist=105422),LOC440518(dist=68489)	ENSG00000260599	Na	Na	Na	Na	Na	Na	Het;C>T	148;2|7	Hom;C>T	210;0|8
N	N	-	19	22710669	22710669	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101929124																		rs12462492	0.401757	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929124	ZNF98(dist=105521),LOC440518(dist=68390)	ENSG00000260599	Na	Na	Na	Na	Na	Na	Het;G>T	817;33|42	Hom;G>T	1958;0|74
N	N	-	19	22710704	22710704	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101929124																		rs12460428	0.401358	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929124	ZNF98(dist=105556),LOC440518(dist=68355)	ENSG00000260599	Na	Na	Na	Na	Na	Na	Het;T>C	1042;45|52	Hom;T>C	2371;0|85
N	N	-	19	22710745	22710745	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101929124																		rs12462444	0.401358	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929124	ZNF98(dist=105597),LOC440518(dist=68314)	ENSG00000260599	Na	Na	Na	Na	Na	Na	Het;A>G	1388;36|38	Hom;A>G	3108;0|75
N	N	-	19	22710754	22710754	T	TA	indel	upstream	 	 	 	 	LOC101929124																		rs35843877	0.382188	0	0	1	0	0	upstream	intergenic	intronic	LOC101929124	ZNF98(dist=105606),LOC440518(dist=68305)	ENSG00000197360	Na	Na	Na	Na	Na	Na	Het;+A	1236;35|34	Hom;+A	2906;0|69
N	N	-	19	22710771	22710771	C	T	snp	upstream	 	 	 	 	LOC101929124																		rs12462477	0.401957	0	0	1	0	0	upstream	intergenic	intronic	LOC101929124	ZNF98(dist=105623),LOC440518(dist=68288)	ENSG00000197360	Na	Na	Na	Na	Na	Na	Het;C>T	1234;28|32	Hom;C>T	2582;0|57
N	N	-	19	22710780	22710781	CA	C	indel	upstream	 	 	 	 	LOC101929124																		rs35484625	0.401358	0	0	1	0	0	upstream	intergenic	intronic	LOC101929124	ZNF98(dist=105632),LOC440518(dist=68278)	ENSG00000197360	Na	Na	Na	Na	Na	Na	Het;-A	471;25|22	Hom;-A	2213;0|48
N	N	-	19	2271282	2271282	T	C	snp	intronic	 	 	 	 	OAZ1	Oaz1	ENSG00000104904	ornithine decarboxylase antizyme 1	chr19:2269485-2273487	The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]	Cardiovascular Diseases|Carotid Artery Diseases|Coronary Disease|Coronary heart disease|Coronary Restenosis; lupus erythematosus; lupus nephritis	 	Regulation of ornithine decarboxylase (ODC)	GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0006595;polyamine metabolic process;IEA|GO:0006596;polyamine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0090316;positive regulation of intracellular protein transport;IEA|GO:1902268;negative regulation of polyamine transmembrane transport;IEA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;IEA	GO:0005515;protein binding;IPI|GO:0008073;ornithine decarboxylase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAZ1	https://www.uniprot.org/uniprot/P54368		https://www.ncbi.nlm.nih.gov/omim/?term=601579	http://www.informatics.jax.org/searchtool/Search.do?query=OAZ1&submit=Quick%0D%3200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAZ1	rs2074457	0.787939	0	0	1	0	0	intronic	intronic	intronic	OAZ1	OAZ1,SPPL2B	ENSG00000104904	Na	Na	Na	Na	Na	Na	Het;T>C	276;4|10	Hom;T>C	231;0|8
N	N	-	19	2271323	2271323	A	G	snp	intronic	 	 	 	 	OAZ1	Oaz1	ENSG00000104904	ornithine decarboxylase antizyme 1	chr19:2269485-2273487	The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]	Cardiovascular Diseases|Carotid Artery Diseases|Coronary Disease|Coronary heart disease|Coronary Restenosis; lupus erythematosus; lupus nephritis	 	Regulation of ornithine decarboxylase (ODC)	GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0006595;polyamine metabolic process;IEA|GO:0006596;polyamine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0090316;positive regulation of intracellular protein transport;IEA|GO:1902268;negative regulation of polyamine transmembrane transport;IEA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;IEA	GO:0005515;protein binding;IPI|GO:0008073;ornithine decarboxylase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAZ1	https://www.uniprot.org/uniprot/P54368		https://www.ncbi.nlm.nih.gov/omim/?term=601579	http://www.informatics.jax.org/searchtool/Search.do?query=OAZ1&submit=Quick%0D%3200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAZ1	rs2523175	0.898562	0	0	1	0	0	intronic	intronic	intronic	OAZ1	OAZ1,SPPL2B	ENSG00000104904	Na	Na	Na	Na	Na	Na	Het;A>G	253;18|14	Hom;A>G	790;0|20
N	N	-	19	2271577	2271578	CT	C	indel	intronic	 	 	 	 	OAZ1	Oaz1	ENSG00000104904	ornithine decarboxylase antizyme 1	chr19:2269485-2273487	The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]	Cardiovascular Diseases|Carotid Artery Diseases|Coronary Disease|Coronary heart disease|Coronary Restenosis; lupus erythematosus; lupus nephritis	 	Regulation of ornithine decarboxylase (ODC)	GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0006595;polyamine metabolic process;IEA|GO:0006596;polyamine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0090316;positive regulation of intracellular protein transport;IEA|GO:1902268;negative regulation of polyamine transmembrane transport;IEA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;IEA	GO:0005515;protein binding;IPI|GO:0008073;ornithine decarboxylase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAZ1	https://www.uniprot.org/uniprot/P54368		https://www.ncbi.nlm.nih.gov/omim/?term=601579	http://www.informatics.jax.org/searchtool/Search.do?query=OAZ1&submit=Quick%0D%3200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAZ1	rs28384674	0.787939	0.7260	0.7849	1	0	0	intronic	intronic	intronic	OAZ1	OAZ1,SPPL2B	ENSG00000104904	Na	Na	Na	Na	Na	Na	Het;-T	489;26|19	Hom;-T	1625;0|47
N	N	-	19	23309463	23309463	G	GT	indel	ncRNA_exonic	 	 	 	 	SNX6P1																		rs201540364	0.502596	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ZNF730	ZNF730	ENSG00000267920	Na	Na	Na	Na	Na	Na	Het;+T	95;2|6	Hom;+T	304;0|13
N	N	-	19	23414167	23414167	T	G	snp	ncRNA_intronic	 	 	 	 	ZNF724P	 																	rs4932841	0.50639	0	0.5588	1	0	0	ncRNA_intronic	intronic	intronic	ZNF724P	ZNF724P	ENSG00000196081	Na	Na	Na	Na	Na	Na	Het;T>G	87;3|7	Hom;T>G	112;0|5
N	N	-	19	2345099	2345099	G	A	snp	ncRNA_intronic	 	 	 	 	SPPL2B	Sppl2b	ENSG00000005206	signal peptide peptidase like 2B	chr19:2328614-2355099	This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trapped allele are viable and overtly normal with no apparent defects in B cell and dendritic cell homeostasis.	Regulation of TNFR1 signaling	GO:0006508;proteolysis;IEA|GO:0006509;membrane protein ectodomain proteolysis;IDA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0033619;membrane protein proteolysis;IDA|GO:0050776;regulation of immune response;IMP	GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IDA|GO:0071458;integral component of cytoplasmic side of endoplasmic reticulum membrane;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;IDA	GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042500;aspartic endopeptidase activity, intramembrane cleaving;TAS|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPPL2B	https://www.uniprot.org/uniprot/Q8TCT7		https://www.ncbi.nlm.nih.gov/omim/?term=608239	http://www.informatics.jax.org/searchtool/Search.do?query=SPPL2B&submit=Quick%0D%354ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPPL2B	rs143367040	0.00998403	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SPPL2B	SPPL2B	ENSG00000005206	Na	Na	Na	Na	Na	Na	Het;G>A	67;4|4	Hom;G>A	107;0|4
N	N	-	19	2410332	2410332	T	C	snp	synonymous SNV	T1194C	H398H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	TMPRSS9	Tmprss9	ENSG00000178297	transmembrane protease, serine 9	chr19:2389769-2426237	The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]	Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9			https://www.ncbi.nlm.nih.gov/omim/?term=610477	http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9	rs3848635	0.392971	0.3645	0.3107	1	0	0	exonic	exonic	exonic	TMPRSS9	TMPRSS9	ENSG00000178297	synonymous SNV	synonymous SNV	unknown	TMPRSS9:NM_182973:exon8:c.T1092C:p.H364H,	TMPRSS9:uc002lvv.1:exon9:c.T1194C:p.H398H,TMPRSS9:uc010xgx.2:exon8:c.T1092C:p.H364H,	UNKNOWN	Het;T>C	1395;60|65	Hom;T>C	4423;0|164
N	N	-	19	2413961	2413961	G	C	snp	synonymous SNV	G1518C	S506S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TMPRSS9	Tmprss9	ENSG00000178297	transmembrane protease, serine 9	chr19:2389769-2426237	The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]	Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9			https://www.ncbi.nlm.nih.gov/omim/?term=610477	http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9	rs10153475	0.393171	0.3666	0.3425	1	0	0	exonic	exonic	exonic	TMPRSS9	TMPRSS9	ENSG00000178297	synonymous SNV	synonymous SNV	unknown	TMPRSS9:NM_182973:exon9:c.G1416C:p.S472S,	TMPRSS9:uc002lvv.1:exon10:c.G1518C:p.S506S,TMPRSS9:uc010xgx.2:exon9:c.G1416C:p.S472S,	UNKNOWN	Het;G>C	2375;96|107	Hom;G>C	4718;2|173
N	N	-	19	24229175	24229175	T	TTA	indel	ncRNA_intronic	 	 	 	 	AK092080																		Na	0	0	0	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	ZNF254	AK092080,AK092150	ENSG00000268362	Na	Na	Na	Na	Na	Na	Het;+TA	119;4|7	Hom;+TA	95;0|4
N	N	-	19	24239266	24239266	G	T	snp	ncRNA_intronic	 	 	 	 	AK092080																		rs59206840	0.121206	0	0	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	ZNF254	AK092080,AK092150	ENSG00000268362	Na	Na	Na	Na	Na	Na	Het;G>T	56;1|4	Hom;G>T	94;0|4
N	N	-	19	2424938	2424938	A	G	snp	intronic	 	 	 	 	TMPRSS9	Tmprss9	ENSG00000178297	transmembrane protease, serine 9	chr19:2389769-2426237	The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]	Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9			https://www.ncbi.nlm.nih.gov/omim/?term=610477	http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9	rs7343178	0.387979	0	0	1	0	0	intronic	intronic	intronic	TMPRSS9	TMPRSS9	ENSG00000178297	Na	Na	Na	Na	Na	Na	Het;A>G	277;15|13	Hom;A>G	318;0|11
N	N	-	19	2427152	2427152	A	G	snp	intronic	 	 	 	 	TIMM13	Timm13	ENSG00000099800	translocase of inner mitochondrial membrane 13	chr19:2425622-2427892	This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]		 	Mitochondrial protein import	GO:0006626;protein targeting to mitochondrion;TAS|GO:0006810;transport;IEA|GO:0007605;sensory perception of sound;TAS|GO:0015031;protein transport;IEA|GO:0045039;protein import into mitochondrial inner membrane;IBA|GO:0072321;chaperone-mediated protein transport;TAS	GO:0001650;fibrillar center;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0016020;membrane;IEA|GO:0042719;mitochondrial intermembrane space protein transporter complex;TAS	GO:0008270;zinc ion binding;TAS|GO:0008565;protein transporter activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMM13	https://www.uniprot.org/uniprot/Q9Y5L4		https://www.ncbi.nlm.nih.gov/omim/?term=607383	http://www.informatics.jax.org/searchtool/Search.do?query=TIMM13&submit=Quick%0D%2332ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM13	rs12609742	0.387979	0	0	1	0	0	intronic	intronic	intronic	TIMM13	TIMM13	ENSG00000099800	Na	Na	Na	Na	Na	Na	Het;A>G	145;6|6	Hom;A>G	676;0|19
N	N	-	19	2432555	2432555	A	G	snp	intronic	 	 	 	 	LMNB2	Lmnb2	ENSG00000176619	lamin B2	chr19:2427636-2456994	This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development.		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;IEA|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMNB2		https://hpo.jax.org/app/browse/search?q=LMNB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150341	http://www.informatics.jax.org/searchtool/Search.do?query=LMNB2&submit=Quick%0D%13886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB2	rs736705	0.401957	0.3740	0.3300	1	0	0	intronic	intronic	intronic	LMNB2	LMNB2	ENSG00000176619	Na	Na	Na	Na	Na	Na	Het;A>G	1792;97|86	Hom;A>G	4748;2|175
N	N	-	19	2432703	2432703	T	C	snp	intronic	 	 	 	 	LMNB2	Lmnb2	ENSG00000176619	lamin B2	chr19:2427636-2456994	This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development.		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;IEA|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMNB2		https://hpo.jax.org/app/browse/search?q=LMNB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150341	http://www.informatics.jax.org/searchtool/Search.do?query=LMNB2&submit=Quick%0D%13886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB2	rs736704	0.403155	0	0	1	0	0	intronic	intronic	intronic	LMNB2	LMNB2	ENSG00000176619	Na	Na	Na	Na	Na	Na	Het;T>C	124;3|5	Hom;T>C	350;0|11
N	N	-	19	2434245	2434245	T	C	snp	intronic	 	 	 	 	LMNB2	Lmnb2	ENSG00000176619	lamin B2	chr19:2427636-2456994	This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development.		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;IEA|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMNB2		https://hpo.jax.org/app/browse/search?q=LMNB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150341	http://www.informatics.jax.org/searchtool/Search.do?query=LMNB2&submit=Quick%0D%13886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB2	rs12462450	0.391374	0.3573	0.3202	1	0	0	intronic	intronic	intronic	LMNB2	LMNB2	ENSG00000176619	Na	Na	Na	Na	Na	Na	Het;T>C	556;33|26	Hom;T>C	880;2|33
N	N	-	19	2434551	2434551	A	G	snp	intronic	 	 	 	 	LMNB2	Lmnb2	ENSG00000176619	lamin B2	chr19:2427636-2456994	This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development.		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;IEA|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMNB2		https://hpo.jax.org/app/browse/search?q=LMNB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150341	http://www.informatics.jax.org/searchtool/Search.do?query=LMNB2&submit=Quick%0D%13886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB2	rs2304241	0.390775	0.3702	0.3323	1	0	0	intronic	intronic	intronic	LMNB2	LMNB2	ENSG00000176619	Na	Na	Na	Na	Na	Na	Het;A>G	363;35|21	Hom;A>G	1469;0|51
N	N	-	19	2438119	2438119	C	T	snp	intronic	 	 	 	 	LMNB2	Lmnb2	ENSG00000176619	lamin B2	chr19:2427636-2456994	This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development.		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;IEA|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMNB2		https://hpo.jax.org/app/browse/search?q=LMNB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150341	http://www.informatics.jax.org/searchtool/Search.do?query=LMNB2&submit=Quick%0D%13886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB2	rs1865111	0.205272	0.2533	0.2171	1	0	0	intronic	intronic	intronic	LMNB2	LMNB2	ENSG00000176619	Na	Na	Na	Na	Na	Na	Het;C>T	914;40|41	Hom;C>T	1450;1|54
N	N	-	19	2444363	2444363	A	G	snp	intronic	 	 	 	 	LMNB2	Lmnb2	ENSG00000176619	lamin B2	chr19:2427636-2456994	This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development.		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;IEA|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMNB2		https://hpo.jax.org/app/browse/search?q=LMNB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150341	http://www.informatics.jax.org/searchtool/Search.do?query=LMNB2&submit=Quick%0D%13886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB2	rs11668494	0.392372	0.3745	0.3254	1	0	0	intronic	intronic	intronic	LMNB2	LMNB2	ENSG00000176619	Na	Na	Na	Na	Na	Na	Het;A>G	762;39|35	Hom;A>G	1499;0|53
N	N	-	19	2761334	2761334	C	A	snp	intronic	 	 	 	 	SGTA	Sgta	ENSG00000104969	small glutamine rich tetratricopeptide repeat containing alpha	chr19:2754712-2783369	This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]	POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Insulin Resistance|Polycystic Ovary Syndrome	Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent.		GO:0008150;biological_process;ND|GO:0016032;viral process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IDA|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IDA|GO:1904288;BAT3 complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGTA	https://www.uniprot.org/uniprot/O43765		https://www.ncbi.nlm.nih.gov/omim/?term=603419	http://www.informatics.jax.org/searchtool/Search.do?query=SGTA&submit=Quick%0D%3215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGTA	rs3745813	0.478235	0	0	1	0	0	intronic	intronic	intronic	SGTA	SGTA	ENSG00000104969	Na	Na	Na	Na	Na	Na	Het;C>A	129;6|5	Hom;C>A	291;0|9
N	N	-	19	2761358	2761358	G	A	snp	intronic	 	 	 	 	SGTA	Sgta	ENSG00000104969	small glutamine rich tetratricopeptide repeat containing alpha	chr19:2754712-2783369	This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]	POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Insulin Resistance|Polycystic Ovary Syndrome	Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent.		GO:0008150;biological_process;ND|GO:0016032;viral process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IDA|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IDA|GO:1904288;BAT3 complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGTA	https://www.uniprot.org/uniprot/O43765		https://www.ncbi.nlm.nih.gov/omim/?term=603419	http://www.informatics.jax.org/searchtool/Search.do?query=SGTA&submit=Quick%0D%3215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGTA	rs3745814	0.254593	0	0	1	0	0	intronic	intronic	intronic	SGTA	SGTA	ENSG00000104969	Na	Na	Na	Na	Na	Na	Het;G>A	122;11|7	Hom;G>A	594;0|20
N	N	-	19	2761603	2761603	C	T	snp	intronic	 	 	 	 	SGTA	Sgta	ENSG00000104969	small glutamine rich tetratricopeptide repeat containing alpha	chr19:2754712-2783369	This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]	POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Insulin Resistance|Polycystic Ovary Syndrome	Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent.		GO:0008150;biological_process;ND|GO:0016032;viral process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IDA|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IDA|GO:1904288;BAT3 complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGTA	https://www.uniprot.org/uniprot/O43765		https://www.ncbi.nlm.nih.gov/omim/?term=603419	http://www.informatics.jax.org/searchtool/Search.do?query=SGTA&submit=Quick%0D%3215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGTA	rs3745815	0.253594	0	0	1	0	0	intronic	intronic	intronic	SGTA	SGTA	ENSG00000104969	Na	Na	Na	Na	Na	Na	Het;C>T	281;8|12	Hom;C>T	166;0|6
N	N	-	19	2762585	2762585	A	C	snp	synonymous SNV	T555G	A185A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SGTA	Sgta	ENSG00000104969	small glutamine rich tetratricopeptide repeat containing alpha	chr19:2754712-2783369	This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]	POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Insulin Resistance|Polycystic Ovary Syndrome	Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent.		GO:0008150;biological_process;ND|GO:0016032;viral process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IDA|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IDA|GO:1904288;BAT3 complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGTA	https://www.uniprot.org/uniprot/O43765		https://www.ncbi.nlm.nih.gov/omim/?term=603419	http://www.informatics.jax.org/searchtool/Search.do?query=SGTA&submit=Quick%0D%3215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGTA	rs2302491	0.478035	0.3363	0.3302	1	0	0	exonic	exonic	exonic	SGTA	SGTA	ENSG00000104969	synonymous SNV	synonymous SNV	unknown	SGTA:NM_003021:exon7:c.T555G:p.A185A,	SGTA:uc002lwi.1:exon7:c.T555G:p.A185A,	UNKNOWN	Het;A>C	766;52|38	Hom;A>C	3013;0|103
N	N	-	19	2765328	2765328	G	C	snp	intronic	 	 	 	 	SGTA	Sgta	ENSG00000104969	small glutamine rich tetratricopeptide repeat containing alpha	chr19:2754712-2783369	This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]	POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Insulin Resistance|Polycystic Ovary Syndrome	Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent.		GO:0008150;biological_process;ND|GO:0016032;viral process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IDA|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IDA|GO:1904288;BAT3 complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGTA	https://www.uniprot.org/uniprot/O43765		https://www.ncbi.nlm.nih.gov/omim/?term=603419	http://www.informatics.jax.org/searchtool/Search.do?query=SGTA&submit=Quick%0D%3215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGTA	rs2302494	0.340256	0.2543	0.2205	1	0	0	intronic	intronic	intronic	SGTA	SGTA	ENSG00000104969	Na	Na	Na	Na	Na	Na	Het;G>C	444;9|18	Hom;G>C	1023;0|36
N	N	-	19	2767192	2767192	G	T	snp	synonymous SNV	C234A	P78P	hydrophobic,neutral	hydrophobic,neutral	SGTA	Sgta	ENSG00000104969	small glutamine rich tetratricopeptide repeat containing alpha	chr19:2754712-2783369	This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]	POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Insulin Resistance|Polycystic Ovary Syndrome	Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent.		GO:0008150;biological_process;ND|GO:0016032;viral process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IDA|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IDA|GO:1904288;BAT3 complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGTA	https://www.uniprot.org/uniprot/O43765		https://www.ncbi.nlm.nih.gov/omim/?term=603419	http://www.informatics.jax.org/searchtool/Search.do?query=SGTA&submit=Quick%0D%3215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGTA	rs1128925	0.282548	0.2021	0.2700	1	0	0	exonic	exonic	exonic	SGTA	SGTA	ENSG00000104969	synonymous SNV	synonymous SNV	unknown	SGTA:NM_003021:exon4:c.C234A:p.P78P,	SGTA:uc002lwi.1:exon4:c.C234A:p.P78P,	UNKNOWN	Het;G>T	1135;24|52	Hom;G>T	1303;2|50
N	N	-	19	27732809	27732809	C	G	snp	intergenic	 	 	 	 	NONE																		rs79903355	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=548592)	NONE(dist=NONE),AK075337(dist=396582)	NONE(dist=NONE),ENSG00000267696(dist=396582)	Na	Na	Na	Na	Na	Na	Het;C>G	168;2|5	Hom;C>G	381;0|10
N	N	-	19	27732812	27732812	C	T	snp	intergenic	 	 	 	 	NONE																		rs62136070	0.000798722	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=548589)	NONE(dist=NONE),AK075337(dist=396579)	NONE(dist=NONE),ENSG00000267696(dist=396579)	Na	Na	Na	Na	Na	Na	Het;C>T	134;2|4	Hom;C>T	332;0|8
N	N	-	19	27732813	27732813	G	T	snp	intergenic	 	 	 	 	NONE																		rs62136071	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=548588)	NONE(dist=NONE),AK075337(dist=396578)	NONE(dist=NONE),ENSG00000267696(dist=396578)	Na	Na	Na	Na	Na	Na	Het;G>T	134;2|4	Hom;G>T	332;0|7
N	N	-	19	27732826	27732826	C	T	snp	intergenic	 	 	 	 	NONE																		rs62136072	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=548575)	NONE(dist=NONE),AK075337(dist=396565)	NONE(dist=NONE),ENSG00000267696(dist=396565)	Na	Na	Na	Na	Na	Na	Het;C>T	50;2|0	Hom;C>T	242;0|4
N	N	-	19	27733359	27733359	A	C	snp	intergenic	 	 	 	 	NONE																		rs1917981	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=548042)	NONE(dist=NONE),AK075337(dist=396032)	NONE(dist=NONE),ENSG00000267696(dist=396032)	Na	Na	Na	Na	Na	Na	Het;A>C	531;5|24	Hom;A>C	1020;1|24
N	N	-	19	27733363	27733363	A	G	snp	intergenic	 	 	 	 	NONE																		rs62136085	0.000599042	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=548038)	NONE(dist=NONE),AK075337(dist=396028)	NONE(dist=NONE),ENSG00000267696(dist=396028)	Na	Na	Na	Na	Na	Na	Het;A>G	1064;2|26	Hom;A>G	1020;1|23
N	N	-	19	27733391	27733393	GTT	G	indel	intergenic	 	 	 	 	NONE																		rs76216735	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=548008)	NONE(dist=NONE),AK075337(dist=395998)	NONE(dist=NONE),ENSG00000267696(dist=395998)	Na	Na	Na	Na	Na	Na	Het;-TT	601;3|21	Hom;-TT	863;0|20
N	N	-	19	27733418	27733418	A	G	snp	intergenic	 	 	 	 	NONE																		rs79951863	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=547983)	NONE(dist=NONE),AK075337(dist=395973)	NONE(dist=NONE),ENSG00000267696(dist=395973)	Na	Na	Na	Na	Na	Na	Het;A>G	638;2|16	Hom;A>G	782;0|18
N	N	-	19	27733428	27733428	A	G	snp	intergenic	 	 	 	 	NONE																		rs4632264	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=547973)	NONE(dist=NONE),AK075337(dist=395963)	NONE(dist=NONE),ENSG00000267696(dist=395963)	Na	Na	Na	Na	Na	Na	Het;A>G	596;2|14	Hom;A>G	728;0|18
N	N	-	19	27736716	27736716	C	A	snp	intergenic	 	 	 	 	NONE																		rs10423501	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=544685)	NONE(dist=NONE),AK075337(dist=392675)	NONE(dist=NONE),ENSG00000267696(dist=392675)	Na	Na	Na	Na	Na	Na	Het;C>A	53;2|4	Hom;C>A	557;0|13
N	N	-	19	27736730	27736730	A	C	snp	intergenic	 	 	 	 	NONE																		rs62136697	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00662(dist=544671)	NONE(dist=NONE),AK075337(dist=392661)	NONE(dist=NONE),ENSG00000267696(dist=392661)	Na	Na	Na	Na	Na	Na	Het;A>C	134;2|4	Hom;A>C	647;0|15
N	N	-	19	2787832	2787832	T	G	snp	intronic	 	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs1640266	0.366613	0	0	1	0	0	intronic	intronic	intronic	THOP1	THOP1	ENSG00000172009	Na	Na	Na	Na	Na	Na	Het;T>G	90;2|5	Hom;T>G	345;0|13
N	N	-	19	2790394	2790394	G	A	snp	intronic	 	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs1736176	0.364617	0.3322	0.3297	1	0	0	intronic	intronic	intronic	THOP1	THOP1	ENSG00000172009	Na	Na	Na	Na	Na	Na	Het;G>A	506;19|24	Hom;G>A	1661;0|59
N	N	-	19	2792034	2792034	G	A	snp	intronic	 	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs1624295	0.445088	0	0	1	0	0	intronic	intronic	intronic	THOP1	THOP1	ENSG00000172009	Na	Na	Na	Na	Na	Na	Het;G>A	96;2|6	Hom;G>A	139;0|6
N	N	-	19	2796021	2796021	G	A	snp	UTR5	-43G>A	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs1736180	0.361422	0	0.3427	1	0	0	intronic	UTR5	UTR5	THOP1	THOP1(uc010xgz.2:c.-43G>A)	ENSG00000172009(ENST00000586677:c.-43G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	513;17|23	Hom;G>A	1230;0|44
N	N	-	19	2796316	2796316	G	A	snp	intronic	 	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs2260414	0.435104	0	0	1	0	0	intronic	intronic	intronic	THOP1	THOP1	ENSG00000172009	Na	Na	Na	Na	Na	Na	Het;G>A	265;26|12	Hom;G>A	1387;1|52
N	N	-	19	2796355	2796355	G	A	snp	intronic	 	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs2260416	0.361422	0	0	1	0	0	intronic	intronic	intronic	THOP1	THOP1	ENSG00000172009	Na	Na	Na	Na	Na	Na	Het;G>A	155;14|7	Hom;G>A	706;1|26
N	N	-	19	2807375	2807375	G	A	snp	intronic	 	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs1640274	0.266374	0	0	1	0	0	intronic	intronic	intronic	THOP1	THOP1	ENSG00000172009	Na	Na	Na	Na	Na	Na	Het;G>A	129;9|7	Hom;G>A	825;0|29
N	N	-	19	2810248	2810248	G	A	snp	UTR5	-66G>A	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs1736184	0.350839	0	0	1	0	0	intronic	UTR5	UTR5	THOP1	THOP1(uc002lwk.3:c.-66G>A)	ENSG00000172009(ENST00000395212:c.-66G>A,ENST00000587468:c.-66G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	272;17|13	Hom;G>A	557;0|20
N	N	-	19	2813000	2813000	A	G	snp	intronic	 	 	 	 	THOP1	Thop1	ENSG00000172009	thimet oligopeptidase 1	chr19:2785458-2813599	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005758;mitochondrial intermembrane space;IBA|GO:0005829;cytosol;TAS	GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOP1			https://www.ncbi.nlm.nih.gov/omim/?term=601117	http://www.informatics.jax.org/searchtool/Search.do?query=THOP1&submit=Quick%0D%13066ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOP1	rs1736185	0.454073	0	0	1	0	0	intronic	intronic	intronic	THOP1	THOP1	ENSG00000172009	Na	Na	Na	Na	Na	Na	Het;A>G	38;3|2	Hom;A>G	185;0|5
N	N	-	19	29218429	29218429	G	T	snp	ncRNA_intronic	 	 	 	 	BC068609																		rs7259429	0.524161	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100420587	BC068609	ENSG00000267243	Na	Na	Na	Na	Na	Na	Het;G>T	159;10|10	Hom;G>T	288;0|12
N	N	-	19	29218465	29218465	G	T	snp	ncRNA_intronic	 	 	 	 	BC068609																		rs7259439	0.524361	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100420587	BC068609	ENSG00000267243	Na	Na	Na	Na	Na	Na	Het;G>T	164;19|9	Hom;G>T	600;0|16
N	N	-	19	29218584	29218584	G	GGACGGTCCCCGC	indel	ncRNA_exonic	 	 	 	 	LOC100420587																		rs142028700	0.508786	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100420587	BC068609	ENSG00000267243	Na	Na	Na	Na	Na	Na	Het;+GACGGTCCCCGC	460;16|13	Hom;+GACGGTCCCCGC	981;0|24
N	N	-	19	29218657	29218657	A	G	snp	ncRNA_exonic	 	 	 	 	AC005381.1																		rs12972167	0.808506	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LOC100420587	BC068609	ENSG00000267243	Na	Na	Na	Na	Na	Na	Het;A>G	362;3|11	Hom;A>G	217;0|6
N	N	-	19	29218679	29218679	G	A	snp	ncRNA_exonic	 	 	 	 	AC005381.1																		rs59345679	0.519768	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LOC100420587	BC068609	ENSG00000267243	Na	Na	Na	Na	Na	Na	Het;G>A	302;2|8	Hom;G>A	177;0|4
N	N	-	19	29218682	29218682	C	T	snp	ncRNA_exonic	 	 	 	 	AC005381.1																		rs60984070	0.521965	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LOC100420587	BC068609	ENSG00000267243	Na	Na	Na	Na	Na	Na	Het;C>T	305;1|8	Hom;C>T	152;0|4
N	N	-	19	2939268	2939268	A	G	snp	intronic	 	 	 	 	ZNF77	 	ENSG00000175691	zinc finger protein 77	chr19:2933216-2944969			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF77			https://www.ncbi.nlm.nih.gov/omim/?term=194551	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF77&submit=Quick%0D%13739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF77	rs10410034	0.426118	0.3807	0	1	0	0	intronic	intronic	intronic	ZNF77	ZNF77	ENSG00000175691	Na	Na	Na	Na	Na	Na	Het;A>G	127;1|7	Hom;A>G	705;0|0
N	N	-	19	2939289	2939289	A	C	snp	synonymous SNV	T120G	L40L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF77	 	ENSG00000175691	zinc finger protein 77	chr19:2933216-2944969			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF77			https://www.ncbi.nlm.nih.gov/omim/?term=194551	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF77&submit=Quick%0D%13739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF77	rs12608916	0.175719	0.1170	0.0032	1	0	0	exonic	exonic	exonic	ZNF77	ZNF77	ENSG00000175691	synonymous SNV	synonymous SNV	unknown	ZNF77:NM_021217:exon2:c.T120G:p.L40L,	ZNF77:uc002lws.4:exon2:c.T120G:p.L40L,	UNKNOWN	Het;A>C	181;12|11	Hom;A>C	967;0|37
N	N	-	19	2939396	2939396	T	C	snp	nonsynonymous SNV	A13G	I5V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF77	 	ENSG00000175691	zinc finger protein 77	chr19:2933216-2944969			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF77			https://www.ncbi.nlm.nih.gov/omim/?term=194551	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF77&submit=Quick%0D%13739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF77	rs12609268	0.176118	0.1168	0.1359	0.08	1	12	exonic	exonic	exonic	ZNF77	ZNF77	ENSG00000175691	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF77:NM_021217:exon2:c.A13G:p.I5V,	ZNF77:uc002lws.4:exon2:c.A13G:p.I5V,	UNKNOWN	Het;T>C	1362;62|39	Hom;T>C	1657;2|41
N	N	-	19	2939401	2939401	C	G	snp	nonsynonymous SNV	G8C	C3S	polar,hydrophobic,neutral	polar,hydrophilic,neutral	ZNF77	 	ENSG00000175691	zinc finger protein 77	chr19:2933216-2944969			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF77			https://www.ncbi.nlm.nih.gov/omim/?term=194551	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF77&submit=Quick%0D%13739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF77	rs12610412	0.176118	0.1167	0.1358	0.08	1	12	exonic	exonic	exonic	ZNF77	ZNF77	ENSG00000175691	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF77:NM_021217:exon2:c.G8C:p.C3S,	ZNF77:uc002lws.4:exon2:c.G8C:p.C3S,	UNKNOWN	Het;C>G	1341;61|36	Hom;C>G	1657;2|38
N	N	-	19	29883875	29883875	A	G	snp	ncRNA_exonic	 	 	 	 	LOC284395																		rs8101728	0.54373	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC284395	LOC284395	ENSG00000264515	Na	Na	Na	Na	Na	Na	Het;A>G	376;23|17	Hom;A>G	1131;0|41
N	N	-	19	2989810	2989810	G	T	snp	intronic	 	 	 	 	TLE6	Tle6	ENSG00000104953	transducin like enhancer of split 6	chr19:2977444-2995177	This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	PREIMPLANTATION EMBRYONIC LETHALITY 1	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0050769;positive regulation of neurogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TLE6	https://www.uniprot.org/uniprot/Q9H808	https://hpo.jax.org/app/browse/search?q=TLE6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612399	http://www.informatics.jax.org/searchtool/Search.do?query=TLE6&submit=Quick%0D%3210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE6	rs504199	0.529553	0.5438	0.4746	1	0	0	intronic	intronic	intronic	TLE6	TLE6	ENSG00000104953	Na	Na	Na	Na	Na	Na	Het;G>T	446;47|22	Hom;G>T	1127;0|42
N	N	-	19	2994885	2994885	G	T	snp	intronic	 	 	 	 	TLE6	Tle6	ENSG00000104953	transducin like enhancer of split 6	chr19:2977444-2995177	This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	PREIMPLANTATION EMBRYONIC LETHALITY 1	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0050769;positive regulation of neurogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TLE6	https://www.uniprot.org/uniprot/Q9H808	https://hpo.jax.org/app/browse/search?q=TLE6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612399	http://www.informatics.jax.org/searchtool/Search.do?query=TLE6&submit=Quick%0D%3210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE6	rs11084986	0.414137	0.3891	0.5389	1	0	0	intronic	intronic	intronic	TLE6	TLE6	ENSG00000104953	Na	Na	Na	Na	Na	Na	Het;G>T	1058;46|50	Hom;G>T	2143;0|84
N	N	-	19	3005276	3005276	G	A	snp	intronic	 	 	 	 	TLE2	Tle2	ENSG00000065717	transducin like enhancer of split 2	chr19:2997636-3047633		Cholesterol, LDL; Cholesterol	 	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005925;focal adhesion;IDA|GO:0016604;nuclear body;IDA	GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE2	https://www.uniprot.org/uniprot/Q04725		https://www.ncbi.nlm.nih.gov/omim/?term=601041	http://www.informatics.jax.org/searchtool/Search.do?query=TLE2&submit=Quick%0D%1191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE2	rs2238621	0.394768	0	0	1	0	0	intronic	intronic	intronic	TLE2	TLE2	ENSG00000065717	Na	Na	Na	Na	Na	Na	Het;G>A	236;3|8	Hom;G>A	165;0|6
N	N	-	19	30097268	30097268	C	G	snp	UTR5	-35C>G	 	 	 	POP4	Pop4	ENSG00000105171	POP4 homolog, ribonuclease P/MRP subunit	chr19:30094924-30108144	This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]	Inflammatory Bowel Diseases	Mice homozygous for an endonuclease-mediated deletion display complete prenatal lethality.	tRNA processing in the nucleus	GO:0001682;tRNA 5'-leader removal;TAS|GO:0006364;rRNA processing;TAS|GO:0006379;mRNA cleavage;IEA|GO:0008033;tRNA processing;TAS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA	GO:0000172;ribonuclease MRP complex;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;IEA|GO:0005730;nucleolus;IEA|GO:0030677;ribonuclease P complex;IBA	GO:0000171;ribonuclease MRP activity;IBA|GO:0003723;RNA binding;TAS|GO:0004526;ribonuclease P activity;TAS|GO:0004540;ribonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0033204;ribonuclease P RNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/POP4	https://www.uniprot.org/uniprot/O95707		https://www.ncbi.nlm.nih.gov/omim/?term=606114	http://www.informatics.jax.org/searchtool/Search.do?query=POP4&submit=Quick%0D%3241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POP4	rs2303754	0.563099	0.4821	0.5415	1	0	0	intronic	intronic	UTR5	POP4	POP4	ENSG00000105171(ENST00000590688:c.-35C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	141;13|9	Hom;C>G	574;0|22
N	N	-	19	3009883	3009883	C	CT	indel	intronic	 	 	 	 	TLE2	Tle2	ENSG00000065717	transducin like enhancer of split 2	chr19:2997636-3047633		Cholesterol, LDL; Cholesterol	 	Repression of WNT target genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005925;focal adhesion;IDA|GO:0016604;nuclear body;IDA	GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLE2	https://www.uniprot.org/uniprot/Q04725		https://www.ncbi.nlm.nih.gov/omim/?term=601041	http://www.informatics.jax.org/searchtool/Search.do?query=TLE2&submit=Quick%0D%1191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE2	rs66977119	0.871206	0	0	1	0	0	intronic	intronic	intronic	TLE2	TLE2	ENSG00000065717	Na	Na	Na	Na	Na	Na	Het;+T	95;3|4	Hom;+T	113;0|4
N	N	-	19	30190522	30190522	A	AC	indel	UTR3	*3097T>GT	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs35973369	0.664936	0	0.6893	1	0	0	UTR3	UTR3	intergenic	C19orf12(NM_001256047:c.*3097T>GT,NM_031448:c.*3097T>GT,NM_001282931:c.*3097T>GT,NM_001282930:c.*3097T>GT,NM_001282929:c.*3097T>GT,NM_001256046:c.*3144T>GT,NM_001031726:c.*3097T>GT)	C19orf12(uc002nsj.3:c.*3097T>GT,uc002nsm.4:c.*3144T>GT,uc002nsk.3:c.*3097T>GT,uc002nsl.3:c.*3379T>GT,uc031rkd.1:c.*3097T>GT)	ENSG00000166289(dist=24158),ENSG00000131943(dist=1199)	Na	Na	Na	Na	Na	Na	Het;+C	454;18|15	Hom;+C	1327;0|34
N	N	-	19	30190658	30190658	A	G	snp	UTR3	*2961T>C	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs10417597	0.687101	0	0.6941	1	0	0	UTR3	UTR3	intergenic	C19orf12(NM_001256047:c.*2961T>C,NM_031448:c.*2961T>C,NM_001282931:c.*2961T>C,NM_001282930:c.*2961T>C,NM_001282929:c.*2961T>C,NM_001256046:c.*3008T>C,NM_001031726:c.*2961T>C)	C19orf12(uc002nsj.3:c.*2961T>C,uc002nsm.4:c.*3008T>C,uc002nsk.3:c.*2961T>C,uc002nsl.3:c.*3243T>C,uc031rkd.1:c.*2961T>C)	ENSG00000166289(dist=24294),ENSG00000131943(dist=1063)	Na	Na	Na	Na	Na	Na	Het;A>G	838;33|40	Hom;A>G	1921;0|67
N	N	-	19	30190828	30190828	G	GA	indel	UTR3	*2791C>TC	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs35730141	0.263179	0	0.4149	1	0	0	UTR3	UTR3	downstream	C19orf12(NM_001256047:c.*2791C>TC,NM_031448:c.*2791C>TC,NM_001282931:c.*2791C>TC,NM_001282930:c.*2791C>TC,NM_001282929:c.*2791C>TC,NM_001256046:c.*2838C>TC,NM_001031726:c.*2791C>TC)	C19orf12(uc002nsj.3:c.*2791C>TC,uc002nsm.4:c.*2838C>TC,uc002nsk.3:c.*2791C>TC,uc002nsl.3:c.*3073C>TC,uc031rkd.1:c.*2791C>TC)	ENSG00000131943	Na	Na	Na	Na	Na	Na	Het;+A	382;11|16	Hom;+A	496;0|16
N	N	-	19	30191933	30191933	A	G	snp	UTR3	*1686T>C	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs7255131	0.709665	0	0.6960	1	0	0	UTR3	UTR3	UTR3	C19orf12(NM_001256047:c.*1686T>C,NM_031448:c.*1686T>C,NM_001282931:c.*1686T>C,NM_001282930:c.*1686T>C,NM_001282929:c.*1686T>C,NM_001256046:c.*1733T>C,NM_001031726:c.*1686T>C)	C19orf12(uc002nsj.3:c.*1686T>C,uc002nsm.4:c.*1733T>C,uc002nsk.3:c.*1686T>C,uc002nsl.3:c.*1968T>C,uc031rkd.1:c.*1686T>C)	ENSG00000131943(ENST00000323670:c.*1686T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	396;15|15	Hom;A>G	1005;2|35
N	N	-	19	30192475	30192475	G	A	snp	UTR3	*1144C>T	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs9566	0.250399	0	0.4139	1	0	0	UTR3	UTR3	UTR3	C19orf12(NM_001256047:c.*1144C>T,NM_031448:c.*1144C>T,NM_001282931:c.*1144C>T,NM_001282930:c.*1144C>T,NM_001282929:c.*1144C>T,NM_001256046:c.*1191C>T,NM_001031726:c.*1144C>T)	C19orf12(uc002nsj.3:c.*1144C>T,uc002nsm.4:c.*1191C>T,uc002nsk.3:c.*1144C>T,uc002nsl.3:c.*1426C>T,uc031rkd.1:c.*1144C>T)	ENSG00000131943(ENST00000323670:c.*1144C>T,ENST00000392276:c.*1144C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	240;28|14	Hom;G>A	1432;1|56
N	N	-	19	30192505	30192505	G	C	snp	UTR3	*1114C>G	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs1048123	0.27516	0	0.4154	1	0	0	UTR3	UTR3	UTR3	C19orf12(NM_001256047:c.*1114C>G,NM_031448:c.*1114C>G,NM_001282931:c.*1114C>G,NM_001282930:c.*1114C>G,NM_001282929:c.*1114C>G,NM_001256046:c.*1161C>G,NM_001031726:c.*1114C>G)	C19orf12(uc002nsj.3:c.*1114C>G,uc002nsm.4:c.*1161C>G,uc002nsk.3:c.*1114C>G,uc002nsl.3:c.*1396C>G,uc031rkd.1:c.*1114C>G)	ENSG00000131943(ENST00000323670:c.*1114C>G,ENST00000392276:c.*1114C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	309;25|17	Hom;G>C	1382;0|53
N	N	-	19	30192599	30192599	G	T	snp	UTR3	*1020C>A	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs1140197	0.617612	0	0.5547	1	0	0	UTR3	UTR3	UTR3	C19orf12(NM_001256047:c.*1020C>A,NM_031448:c.*1020C>A,NM_001282931:c.*1020C>A,NM_001282930:c.*1020C>A,NM_001282929:c.*1020C>A,NM_001256046:c.*1067C>A,NM_001031726:c.*1020C>A)	C19orf12(uc002nsj.3:c.*1020C>A,uc002nsm.4:c.*1067C>A,uc002nsk.3:c.*1020C>A,uc002nsl.3:c.*1302C>A,uc031rkd.1:c.*1020C>A)	ENSG00000131943(ENST00000323670:c.*1020C>A,ENST00000392276:c.*1020C>A,ENST00000592153:c.*1067C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	73;6|5	Hom;G>T	261;0|8
N	N	-	19	30192738	30192738	C	T	snp	UTR3	*881G>A	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs3926	0.61861	0	0.6767	1	0	0	UTR3	UTR3	UTR3	C19orf12(NM_001256047:c.*881G>A,NM_031448:c.*881G>A,NM_001282931:c.*881G>A,NM_001282930:c.*881G>A,NM_001282929:c.*881G>A,NM_001256046:c.*928G>A,NM_001031726:c.*881G>A)	C19orf12(uc002nsj.3:c.*881G>A,uc002nsm.4:c.*928G>A,uc002nsk.3:c.*881G>A,uc002nsl.3:c.*1163G>A,uc031rkd.1:c.*881G>A)	ENSG00000131943(ENST00000323670:c.*881G>A,ENST00000392276:c.*881G>A,ENST00000592153:c.*928G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	637;13|27	Hom;C>T	719;0|28
N	N	-	19	30193182	30193182	G	C	snp	UTR3	*437C>G	 	 	 	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs1048104	0.262979	0	0.4150	1	0	0	UTR3	UTR3	UTR3	C19orf12(NM_001256047:c.*437C>G,NM_031448:c.*437C>G,NM_001282931:c.*437C>G,NM_001282930:c.*437C>G,NM_001282929:c.*437C>G,NM_001256046:c.*484C>G,NM_001031726:c.*437C>G)	C19orf12(uc002nsj.3:c.*437C>G,uc002nsm.4:c.*484C>G,uc002nsk.3:c.*437C>G,uc002nsl.3:c.*719C>G,uc031rkd.1:c.*437C>G)	ENSG00000131943(ENST00000323670:c.*437C>G,ENST00000392276:c.*437C>G,ENST00000592153:c.*484C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	580;39|30	Hom;G>C	1470;0|53
N	N	-	19	30193721	30193721	G	A	snp	synonymous SNV	C357T	T119T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C19orf12	1600014C10Rik	ENSG00000131943	chromosome 19 open reading frame 12	chr19:30191721-30206364	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Urinary Bladder Neoplasms	 		GO:0006914;autophagy;IMP|GO:0006915;apoptotic process;IMP|GO:0006979;response to oxidative stress;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C19orf12	https://www.uniprot.org/uniprot/Q9NSK7		https://www.ncbi.nlm.nih.gov/omim/?term=614297	http://www.informatics.jax.org/searchtool/Search.do?query=C19orf12&submit=Quick%0D%6606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf12	rs10424582	0.613818	0.7520	0.6670	1	0	0	exonic	exonic	exonic	C19orf12	C19orf12	ENSG00000131943	synonymous SNV	synonymous SNV	unknown	C19orf12:NM_001282931:exon4:c.C132T:p.T44T,C19orf12:NM_001282930:exon2:c.C132T:p.T44T,C19orf12:NM_031448:exon3:c.C324T:p.T108T,C19orf12:NM_001282929:exon2:c.C132T:p.T44T,C19orf12:NM_001256047:exon3:c.C324T:p.T108T,C19orf12:NM_001031726:exon3:c.C357T:p.T119T,	C19orf12:uc002nsj.3:exon3:c.C357T:p.T119T,C19orf12:uc031rkd.1:exon3:c.C324T:p.T108T,C19orf12:uc002nsk.3:exon3:c.C324T:p.T108T,	UNKNOWN	Het;G>A	787;58|38	Hom;G>A	2917;1|109
N	N	-	19	3113305	3113305	G	C	snp	intronic	 	 	 	 	GNA11	Gna11	ENSG00000088256	G protein subunit alpha 11	chr19:3094408-3124002	The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]	melanoma|Nevus|Nevus, Blue|Uveal Neoplasms	Mice deficient for this gene do not exhibit any detectable abnormalities.	Thrombin signalling through proteinase activated receptors (PARs)	GO:0001501;skeletal system development;IEA|GO:0001508;action potential;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;ISS|GO:0007507;heart development;IEA|GO:0007603;phototransduction, visible light;ISS|GO:0009649;entrainment of circadian clock;ISS|GO:0030168;platelet activation;TAS|GO:0045634;regulation of melanocyte differentiation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IEA|GO:0071467;cellular response to pH;IEA	GO:0001750;photoreceptor outer segment;ISS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IEA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0031826;type 2A serotonin receptor binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNA11	https://www.uniprot.org/uniprot/P29992	https://hpo.jax.org/app/browse/search?q=GNA11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=139313	http://www.informatics.jax.org/searchtool/Search.do?query=GNA11&submit=Quick%0D%1993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNA11	rs1682811	0.835663	0.8749	0.8500	1	0	0	intronic	intronic	intronic	GNA11	GNA11	ENSG00000088256	Na	Na	Na	Na	Na	Na	Het;G>C	874;39|38	Hom;G>C	1919;0|68
N	N	-	19	3119184	3119184	T	G	snp	ncRNA_intronic	 	 	 	 	AC005262.2																		rs308046	0.773562	0.8159	0.8340	1	0	0	intronic	intronic	ncRNA_intronic	GNA11	GNA11	ENSG00000267139	Na	Na	Na	Na	Na	Na	Het;T>G	1068;38|47	Hom;T>G	3117;0|103
N	N	-	19	3119405	3119405	T	G	snp	intronic	 	 	 	 	GNA11	Gna11	ENSG00000088256	G protein subunit alpha 11	chr19:3094408-3124002	The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]	melanoma|Nevus|Nevus, Blue|Uveal Neoplasms	Mice deficient for this gene do not exhibit any detectable abnormalities.	Thrombin signalling through proteinase activated receptors (PARs)	GO:0001501;skeletal system development;IEA|GO:0001508;action potential;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;ISS|GO:0007507;heart development;IEA|GO:0007603;phototransduction, visible light;ISS|GO:0009649;entrainment of circadian clock;ISS|GO:0030168;platelet activation;TAS|GO:0045634;regulation of melanocyte differentiation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IEA|GO:0071467;cellular response to pH;IEA	GO:0001750;photoreceptor outer segment;ISS|GO:0005737;cytoplasm;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IEA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0031826;type 2A serotonin receptor binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNA11	https://www.uniprot.org/uniprot/P29992	https://hpo.jax.org/app/browse/search?q=GNA11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=139313	http://www.informatics.jax.org/searchtool/Search.do?query=GNA11&submit=Quick%0D%1993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNA11	rs370286	0.856829	0.8586	0.8562	1	0	0	intronic	intronic	intronic	GNA11	GNA11	ENSG00000088256	Na	Na	Na	Na	Na	Na	Het;T>G	1085;35|50	Hom;T>G	2388;2|83
N	N	-	19	31298043	31298043	G	T	snp	intergenic	 	 	 	 	ZNF536	Zfp536	ENSG00000198597	zinc finger protein 536	chr19:30719197-31204445	The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]	HIV Infections|[X]Human immunodeficiency virus disease; select biomarker traits; Echocardiography; Insulin Resistance; Body Weight; Hip; Respiratory Function Tests; Cholesterol, HDL; Phospholipids; Cardiovascular Diseases; Body Mass Index; C-Reactive Protein	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0044323;retinoic acid-responsive element binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF536				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF536&submit=Quick%0D%16937ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF536	rs983495	0.558107	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF536(dist=249078),TSHZ3(dist=467808)	ZNF536(dist=249078),BC040412(dist=100063)	ENSG00000198597(dist=93598),ENSG00000267081(dist=43839)	Na	Na	Na	Na	Na	Na	Het;G>T	144;19|9	Hom;G>T	604;0|23
N	N	-	19	31298150	31298150	A	G	snp	intergenic	 	 	 	 	ZNF536	Zfp536	ENSG00000198597	zinc finger protein 536	chr19:30719197-31204445	The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]	HIV Infections|[X]Human immunodeficiency virus disease; select biomarker traits; Echocardiography; Insulin Resistance; Body Weight; Hip; Respiratory Function Tests; Cholesterol, HDL; Phospholipids; Cardiovascular Diseases; Body Mass Index; C-Reactive Protein	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0044323;retinoic acid-responsive element binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF536				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF536&submit=Quick%0D%16937ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF536	rs4805627	0.351438	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF536(dist=249185),TSHZ3(dist=467701)	ZNF536(dist=249185),BC040412(dist=99956)	ENSG00000198597(dist=93705),ENSG00000267081(dist=43732)	Na	Na	Na	Na	Na	Na	Het;A>G	447;19|23	Hom;A>G	1092;0|42
N	N	-	19	3136692	3136692	T	C	snp	intronic	 	 	 	 	GNA15	Gna15	ENSG00000060558	G protein subunit alpha 15	chr19:3136191-3163767		Heart Failure	Mice homozygous for a targeted null mutation exhibit normal hematopoiesis and normal response to inflammatory challenges.	Thrombin signalling through proteinase activated receptors (PARs)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IGI|GO:0007207;phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0030168;platelet activation;TAS|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA	GO:0005834;heterotrimeric G-protein complex;NAS|GO:0005886;plasma membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNA15	https://www.uniprot.org/uniprot/P30679		https://www.ncbi.nlm.nih.gov/omim/?term=139314	http://www.informatics.jax.org/searchtool/Search.do?query=GNA15&submit=Quick%0D%1061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNA15	rs411210	0.627396	0	0	1	0	0	intronic	intronic	intronic	GNA15	GNA15	ENSG00000060558	Na	Na	Na	Na	Na	Na	Het;T>C	515;18|21	Hom;T>C	1254;0|43
N	N	-	19	3149036	3149036	C	CACAT	indel	ncRNA_exonic	 	 	 	 	LOC100996351																		rs35799203	0.756789	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC100996351	GNA15	ENSG00000267551	Na	Na	Na	Na	Na	Na	Het;+ACAT	212;1|6	Hom;+ACAT	188;0|5
N	N	-	19	31799115	31799115	T	G	snp	intronic	 	 	 	 	TSHZ3	Tshz3	ENSG00000121297	teashirt zinc finger homeobox 3	chr19:31765851-31840453	This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]	Acquired Immunodeficiency Syndrome|Disease Progression; Bilirubin; Body Fat Distribution; Blood Coagulation Factors; Psychomotor Performance; Body Height; Coronary Disease; Amyotrophic Lateral Sclerosis; Cognitive performance; null; Hypertension; Iron	Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060291;long-term synaptic potentiation;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSHZ3	https://www.uniprot.org/uniprot/Q63HK5		https://www.ncbi.nlm.nih.gov/omim/?term=614119	http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ3&submit=Quick%0D%5301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ3	rs55947176	0.409545	0	0	1	0	0	intronic	intronic	intronic	TSHZ3	TSHZ3	ENSG00000121297	Na	Na	Na	Na	Na	Na	Het;T>G	40;2|2	Hom;T>G	133;0|4
N	N	-	19	31799151	31799151	C	T	snp	intronic	 	 	 	 	TSHZ3	Tshz3	ENSG00000121297	teashirt zinc finger homeobox 3	chr19:31765851-31840453	This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]	Acquired Immunodeficiency Syndrome|Disease Progression; Bilirubin; Body Fat Distribution; Blood Coagulation Factors; Psychomotor Performance; Body Height; Coronary Disease; Amyotrophic Lateral Sclerosis; Cognitive performance; null; Hypertension; Iron	Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060291;long-term synaptic potentiation;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSHZ3	https://www.uniprot.org/uniprot/Q63HK5		https://www.ncbi.nlm.nih.gov/omim/?term=614119	http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ3&submit=Quick%0D%5301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ3	rs55974604	0.258786	0	0	1	0	0	intronic	intronic	intronic	TSHZ3	TSHZ3	ENSG00000121297	Na	Na	Na	Na	Na	Na	Het;C>T	89;3|3	Hom;C>T	377;0|9
N	N	-	19	31799154	31799154	C	A	snp	intronic	 	 	 	 	TSHZ3	Tshz3	ENSG00000121297	teashirt zinc finger homeobox 3	chr19:31765851-31840453	This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]	Acquired Immunodeficiency Syndrome|Disease Progression; Bilirubin; Body Fat Distribution; Blood Coagulation Factors; Psychomotor Performance; Body Height; Coronary Disease; Amyotrophic Lateral Sclerosis; Cognitive performance; null; Hypertension; Iron	Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060291;long-term synaptic potentiation;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSHZ3	https://www.uniprot.org/uniprot/Q63HK5		https://www.ncbi.nlm.nih.gov/omim/?term=614119	http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ3&submit=Quick%0D%5301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ3	rs7245738	0.573482	0	0	1	0	0	intronic	intronic	intronic	TSHZ3	TSHZ3	ENSG00000121297	Na	Na	Na	Na	Na	Na	Het;C>A	89;3|3	Hom;C>A	377;0|9
N	N	-	19	31799401	31799404	GTCA	G	indel	UTR3	*153_*150delinsC	 	 	 	TSHZ3	Tshz3	ENSG00000121297	teashirt zinc finger homeobox 3	chr19:31765851-31840453	This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]	Acquired Immunodeficiency Syndrome|Disease Progression; Bilirubin; Body Fat Distribution; Blood Coagulation Factors; Psychomotor Performance; Body Height; Coronary Disease; Amyotrophic Lateral Sclerosis; Cognitive performance; null; Hypertension; Iron	Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060291;long-term synaptic potentiation;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSHZ3	https://www.uniprot.org/uniprot/Q63HK5		https://www.ncbi.nlm.nih.gov/omim/?term=614119	http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ3&submit=Quick%0D%5301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ3	rs55671112	0	0	0	1	0	0	intronic	intronic	UTR3	TSHZ3	TSHZ3	ENSG00000121297(ENST00000558569:c.*153_*150delinsC)	Na	Na	Na	Na	Na	Na	Het;-TCA	2161;70|58	Hom;-TCA	5247;4|123
N	N	-	19	32881271	32881271	A	G	snp	ncRNA_intronic	 	 	 	 	LOC400684																		rs1015839	0.644968	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC400684	LOC400684	ENSG00000267213	Na	Na	Na	Na	Na	Na	Het;A>G	665;19|29	Hom;A>G	1775;3|63
N	N	-	19	33022455	33022455	C	T	snp	intergenic	 	 	 	 	ENSG00000263780																		rs981110	0.46845	0	0	1	0	0	intergenic	intergenic	intergenic	DPY19L3(dist=45656),PDCD5(dist=49639)	DPY19L3(dist=45656),PDCD5(dist=49639)	ENSG00000263780(dist=30608),ENSG00000105185(dist=49519)	Na	Na	Na	Na	Na	Na	Het;C>T	304;12|16	Hom;C>T	484;0|20
N	N	-	19	33496402	33496402	G	A	snp	intronic	 	 	 	 	RHPN2	Rhpn2	ENSG00000131941	rhophilin Rho GTPase binding protein 2	chr19:33469499-33555794	This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]	colorectal cancer; Colorectal Neoplasms	Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RHPN2	https://www.uniprot.org/uniprot/Q8IUC4			http://www.informatics.jax.org/searchtool/Search.do?query=RHPN2&submit=Quick%0D%6605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN2	rs10415212	0.218051	0	0	1	0	0	intronic	intronic	intronic	RHPN2	RHPN2	ENSG00000131941	Na	Na	Na	Na	Na	Na	Het;G>A	50;3|4	Hom;G>A	125;0|6
N	N	-	19	33498814	33498814	T	TGTAA	indel	intronic	 	 	 	 	RHPN2	Rhpn2	ENSG00000131941	rhophilin Rho GTPase binding protein 2	chr19:33469499-33555794	This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]	colorectal cancer; Colorectal Neoplasms	Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RHPN2	https://www.uniprot.org/uniprot/Q8IUC4			http://www.informatics.jax.org/searchtool/Search.do?query=RHPN2&submit=Quick%0D%6605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN2	rs111834023	0	0	0	1	0	0	intronic	intronic	intronic	RHPN2	RHPN2	ENSG00000131941	Na	Na	Na	Na	Na	Na	Het;+GTAA	194;7|5	Hom;+GTAA	638;0|14
N	N	-	19	33498816	33498821	TGGCCC	T	indel	intronic	 	 	 	 	RHPN2	Rhpn2	ENSG00000131941	rhophilin Rho GTPase binding protein 2	chr19:33469499-33555794	This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]	colorectal cancer; Colorectal Neoplasms	Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RHPN2	https://www.uniprot.org/uniprot/Q8IUC4			http://www.informatics.jax.org/searchtool/Search.do?query=RHPN2&submit=Quick%0D%6605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN2	rs758247777	0	0	0	1	0	0	intronic	intronic	intronic	RHPN2	RHPN2	ENSG00000131941	Na	Na	Na	Na	Na	Na	Het;-GGCCC	191;8|6	Hom;-GGCCC	638;0|15
N	N	-	19	33498823	33498824	TG	T	indel	intronic	 	 	 	 	RHPN2	Rhpn2	ENSG00000131941	rhophilin Rho GTPase binding protein 2	chr19:33469499-33555794	This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]	colorectal cancer; Colorectal Neoplasms	Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RHPN2	https://www.uniprot.org/uniprot/Q8IUC4			http://www.informatics.jax.org/searchtool/Search.do?query=RHPN2&submit=Quick%0D%6605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN2	rs751832037	0	0	0	1	0	0	intronic	intronic	intronic	RHPN2	RHPN2	ENSG00000131941	Na	Na	Na	Na	Na	Na	Het;-G	191;8|6	Hom;-G	663;0|15
N	N	-	19	33499071	33499071	G	A	snp	synonymous SNV	C156T	T52T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RHPN2	Rhpn2	ENSG00000131941	rhophilin Rho GTPase binding protein 2	chr19:33469499-33555794	This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]	colorectal cancer; Colorectal Neoplasms	Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RHPN2	https://www.uniprot.org/uniprot/Q8IUC4			http://www.informatics.jax.org/searchtool/Search.do?query=RHPN2&submit=Quick%0D%6605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN2	rs10410414	0.217652	0.1840	0.2023	1	0	0	exonic	exonic	exonic	RHPN2	RHPN2	ENSG00000131941	synonymous SNV	synonymous SNV	unknown	RHPN2:NM_033103:exon7:c.C609T:p.T203T,	RHPN2:uc010xro.2:exon6:c.C156T:p.T52T,RHPN2:uc002nuf.3:exon7:c.C609T:p.T203T,	UNKNOWN	Het;G>A	726;34|37	Hom;G>A	1604;0|54
N	N	-	19	33502714	33502714	A	G	snp	intronic	 	 	 	 	RHPN2	Rhpn2	ENSG00000131941	rhophilin Rho GTPase binding protein 2	chr19:33469499-33555794	This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]	colorectal cancer; Colorectal Neoplasms	Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RHPN2	https://www.uniprot.org/uniprot/Q8IUC4			http://www.informatics.jax.org/searchtool/Search.do?query=RHPN2&submit=Quick%0D%6605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN2	rs2288854	0.345647	0.2906	0.2769	1	0	0	intronic	intronic	intronic	RHPN2	RHPN2	ENSG00000131941	Na	Na	Na	Na	Na	Na	Het;A>G	556;30|28	Hom;A>G	1308;0|51
N	N	-	19	33703706	33703706	A	G	snp	intronic	 	 	 	 	SLC7A10	Slc7a10	ENSG00000130876	solute carrier family 7 member 10	chr19:33699570-33716756	SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]	Crohn Disease; Inflammatory Bowel Diseases	A targeted mutation of this gene results in mice that develop tremors, ataxia and seizures.	Amino acid transport across the plasma membrane	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015804;neutral amino acid transport;IDA|GO:0015825;L-serine transport;IEA|GO:0042941;D-alanine transport;IEA|GO:0042942;D-serine transport;IEA|GO:0050900;leukocyte migration;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;IDA|GO:0015194;L-serine transmembrane transporter activity;TAS|GO:0015297;antiporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A10	https://www.uniprot.org/uniprot/Q9NS82		https://www.ncbi.nlm.nih.gov/omim/?term=607959	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A10&submit=Quick%0D%6460ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A10	rs11673535	0.446286	0.6037	0.5349	1	0	0	intronic	intronic	intronic	SLC7A10	SLC7A10	ENSG00000130876	Na	Na	Na	Na	Na	Na	Het;A>G	378;21|16	Hom;A>G	925;0|31
N	N	-	19	34074042	34074042	G	A	snp	intergenic	 	 	 	 	AC010485.1																		rs4413087	0.527756	0	0	1	0	0	intergenic	intergenic	intergenic	PEPD(dist=61243),CHST8(dist=38819)	PEPD(dist=61243),CHST8(dist=38819)	ENSG00000266985(dist=25666),ENSG00000232429(dist=6070)	Na	Na	Na	Na	Na	Na	Het;G>A	134;2|4	Hom;G>A	63;0|2
N	N	-	19	34074046	34074046	C	T	snp	intergenic	 	 	 	 	AC010485.1																		rs4419165	0.527756	0	0	1	0	0	intergenic	intergenic	intergenic	PEPD(dist=61247),CHST8(dist=38815)	PEPD(dist=61247),CHST8(dist=38815)	ENSG00000266985(dist=25670),ENSG00000232429(dist=6066)	Na	Na	Na	Na	Na	Na	Het;C>T	134;2|4	Hom;C>T	63;0|2
N	N	-	19	34687746	34687746	C	A	snp	intronic	 	 	 	 	LSM14A	Lsm14a	ENSG00000262860	LSM14A, mRNA processing body assembly factor	chr19:34663409-34720420	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]		 		GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0033962;cytoplasmic mRNA processing body assembly;IDA	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LSM14A			https://www.ncbi.nlm.nih.gov/omim/?term=610677	http://www.informatics.jax.org/searchtool/Search.do?query=LSM14A&submit=Quick%0D%20524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM14A	rs3119815	0.52516	0	0	1	0	0	intronic	intronic	intronic	LSM14A	LSM14A	ENSG00000257103	Na	Na	Na	Na	Na	Na	Het;C>A	180;18|10	Hom;C>A	1070;0|37
N	N	-	19	34706440	34706440	A	G	snp	intronic	 	 	 	 	LSM14A	Lsm14a	ENSG00000262860	LSM14A, mRNA processing body assembly factor	chr19:34663409-34720420	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]		 		GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0033962;cytoplasmic mRNA processing body assembly;IDA	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LSM14A			https://www.ncbi.nlm.nih.gov/omim/?term=610677	http://www.informatics.jax.org/searchtool/Search.do?query=LSM14A&submit=Quick%0D%20524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM14A	rs57270694	0.261981	0.3903	0	1	0	0	intronic	intronic	intronic	LSM14A	LSM14A	ENSG00000257103	Na	Na	Na	Na	Na	Na	Het;A>G	273;8|11	Hom;A>G	581;0|17
N	N	-	19	34710532	34710532	A	G	snp	intronic	 	 	 	 	LSM14A	Lsm14a	ENSG00000262860	LSM14A, mRNA processing body assembly factor	chr19:34663409-34720420	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]		 		GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0033962;cytoplasmic mRNA processing body assembly;IDA	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LSM14A			https://www.ncbi.nlm.nih.gov/omim/?term=610677	http://www.informatics.jax.org/searchtool/Search.do?query=LSM14A&submit=Quick%0D%20524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM14A	rs2297521	0.526558	0	0	1	0	0	intronic	intronic	intronic	LSM14A	LSM14A	ENSG00000257103	Na	Na	Na	Na	Na	Na	Het;A>G	243;18|13	Hom;A>G	649;0|21
N	N	-	19	34710807	34710807	A	C	snp	intronic	 	 	 	 	LSM14A	Lsm14a	ENSG00000262860	LSM14A, mRNA processing body assembly factor	chr19:34663409-34720420	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]		 		GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0033962;cytoplasmic mRNA processing body assembly;IDA	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LSM14A			https://www.ncbi.nlm.nih.gov/omim/?term=610677	http://www.informatics.jax.org/searchtool/Search.do?query=LSM14A&submit=Quick%0D%20524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM14A	rs2599557	0.257987	0.3798	0.3192	1	0	0	intronic	intronic	intronic	LSM14A	LSM14A	ENSG00000257103	Na	Na	Na	Na	Na	Na	Het;A>C	476;23|20	Hom;A>C	1258;0|40
N	N	-	19	34712654	34712654	C	T	snp	intronic	 	 	 	 	LSM14A	Lsm14a	ENSG00000262860	LSM14A, mRNA processing body assembly factor	chr19:34663409-34720420	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]		 		GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0033962;cytoplasmic mRNA processing body assembly;IDA	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LSM14A			https://www.ncbi.nlm.nih.gov/omim/?term=610677	http://www.informatics.jax.org/searchtool/Search.do?query=LSM14A&submit=Quick%0D%20524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM14A	rs536367	0.261981	0.3836	0.3190	1	0	0	intronic	intronic	intronic	LSM14A	LSM14A	ENSG00000257103	Na	Na	Na	Na	Na	Na	Het;C>T	482;14|19	Hom;C>T	1173;0|42
N	N	-	19	34754797	34754797	G	A	snp	intronic	 	 	 	 	KIAA0355	4931406P16Rik	ENSG00000282735	KIAA0355	chr19:34745442-34846491		Tobacco Use Disorder; Bipolar Disorder; Lipids	 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA0355				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0355&submit=Quick%0D%22592ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0355	rs7359931	0.707268	0	0	1	0	0	intronic	intronic	intronic	KIAA0355	KIAA0355	ENSG00000166398	Na	Na	Na	Na	Na	Na	Het;G>A	140;2|8	Hom;G>A	237;0|10
N	N	-	19	35136617	35136617	C	T	snp	ncRNA_exonic	 	 	 	 	SCGB2B3P																		rs7260033	0.467252	0	0	1	0	0	upstream	ncRNA_intronic	ncRNA_exonic	SCGB2B3P	AX748165	ENSG00000269811	Na	Na	Na	Na	Na	Na	Het;C>T	41;6|4	Hom;C>T	248;0|12
N	N	-	19	35137002	35137002	T	C	snp	downstream	 	 	 	 	SCGB2B3P																		rs8105937	0.357428	0	0	1	0	0	downstream	ncRNA_intronic	intronic	SCGB2B3P	AX748165	ENSG00000205209	Na	Na	Na	Na	Na	Na	Het;T>C	259;24|15	Hom;T>C	1327;0|47
N	N	-	19	35158389	35158389	T	C	snp	ncRNA_intronic	 	 	 	 	AX748165																		rs4806034	0.361621	0	0	1	0	0	intergenic	ncRNA_intronic	intronic	SCGB2B3P(dist=21432),ZNF302(dist=10155)	AX748165	ENSG00000205209	Na	Na	Na	Na	Na	Na	Het;T>C	103;24|9	Hom;T>C	380;0|15
N	N	-	19	35166845	35166845	C	T	snp	upstream;downstream	 	 	 	 	ENSG00000205209																		rs7247948	0.35004	0	0	1	0	0	intergenic	upstream	upstream;downstream	SCGB2B3P(dist=29888),ZNF302(dist=1699)	AX748165	ENSG00000205209;ENSG00000256383	Na	Na	Na	Na	Na	Na	Het;C>T	154;5|8	Hom;C>T	431;0|16
N	N	-	19	35173545	35173545	T	A	snp	intronic	 	 	 	 	ZNF302	 	ENSG00000089335	zinc finger protein 302	chr19:35168544-35177302	This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]	Lipoproteins	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF302	https://www.uniprot.org/uniprot/Q9NR11			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF302&submit=Quick%0D%2062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF302	rs12460465	0.348842	0	0	1	0	0	intronic	intronic	intronic	ZNF302	ZNF302	ENSG00000089335	Na	Na	Na	Na	Na	Na	Het;T>A	58;3|3	Hom;T>A	113;0|4
N	N	-	19	35449409	35449409	G	A	snp	synonymous SNV	C1350T	H450H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZNF792	 	ENSG00000180884	zinc finger protein 792	chr19:35447258-35454953		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF792				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF792&submit=Quick%0D%14542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF792	rs2651081	0.327276	0.3459	0.3063	1	0	0	exonic	exonic	exonic	ZNF792	ZNF792	ENSG00000180884	synonymous SNV	synonymous SNV	unknown	ZNF792:NM_175872:exon4:c.C1350T:p.H450H,	ZNF792:uc002nxh.1:exon4:c.C1350T:p.H450H,	UNKNOWN	Het;G>A	241;46|18	Hom;G>A	887;0|36
N	N	-	19	35449760	35449760	G	C	snp	synonymous SNV	C999G	T333T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF792	 	ENSG00000180884	zinc finger protein 792	chr19:35447258-35454953		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF792				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF792&submit=Quick%0D%14542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF792	rs2651080	0.322484	0.3373	0.3033	1	0	0	exonic	exonic	exonic	ZNF792	ZNF792	ENSG00000180884	synonymous SNV	synonymous SNV	unknown	ZNF792:NM_175872:exon4:c.C999G:p.T333T,	ZNF792:uc002nxh.1:exon4:c.C999G:p.T333T,	UNKNOWN	Het;G>C	2177;72|99	Hom;G>C	4668;2|168
N	N	-	19	35451742	35451742	G	A	snp	intronic	 	 	 	 	ZNF792	 	ENSG00000180884	zinc finger protein 792	chr19:35447258-35454953		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF792				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF792&submit=Quick%0D%14542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF792	rs2651078	0.325879	0.3458	0.3047	1	0	0	intronic	intronic	intronic	ZNF792	ZNF792	ENSG00000180884	Na	Na	Na	Na	Na	Na	Het;G>A	848;49|45	Hom;G>A	2623;0|97
N	N	-	19	35454604	35454604	A	C	snp	UTR5	-38T>G	 	 	 	ZNF792	 	ENSG00000180884	zinc finger protein 792	chr19:35447258-35454953		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF792				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF792&submit=Quick%0D%14542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF792	rs2546028	0.636182	0.6027	0.5440	1	0	0	UTR5	UTR5	UTR5	ZNF792(NM_175872:c.-38T>G)	ZNF792(uc002nxh.1:c.-38T>G)	ENSG00000180884(ENST00000404801:c.-38T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	1406;54|39	Hom;A>C	4453;0|102
N	N	-	19	35454605	35454605	A	G	snp	UTR5	-39T>C	 	 	 	ZNF792	 	ENSG00000180884	zinc finger protein 792	chr19:35447258-35454953		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF792				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF792&submit=Quick%0D%14542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF792	rs2546029	0.636182	0.6024	0.5398	1	0	0	UTR5	UTR5	UTR5	ZNF792(NM_175872:c.-39T>C)	ZNF792(uc002nxh.1:c.-39T>C)	ENSG00000180884(ENST00000404801:c.-39T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1406;53|37	Hom;A>G	4453;0|96
N	N	-	19	35551225	35551225	G	GC	indel	frameshift substitution	81_81delinsGC	 	 	 	HPN	Hpn	ENSG00000105707	hepsin	chr19:35531410-35557475	This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Aneurysm, Ruptured|Aortic Aneurysm, Abdominal|Intracranial Aneurysm|Subarachnoid Hemorrhage; prostate cancer	Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons.	Signaling by MST1	GO:0006508;proteolysis;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010628;positive regulation of gene expression;ISS|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010756;positive regulation of plasminogen activation;IDA|GO:0030307;positive regulation of cell growth;IMP|GO:0034769;basement membrane disassembly;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043923;positive regulation by host of viral transcription;IDA|GO:0048012;hepatocyte growth factor receptor signaling pathway;TAS|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;ISS|GO:0071805;potassium ion transmembrane transport;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097066;response to thyroid hormone;ISS|GO:0097195;pilomotor reflex;ISS|GO:2000347;positive regulation of hepatocyte proliferation;IDA|GO:2000611;positive regulation of thyroid hormone generation;ISS	GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005911;cell-cell junction;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0043025;neuronal cell body;ISS|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0015269;calcium-activated potassium channel activity;ISS|GO:0016787;hydrolase activity;IEA|GO:0070008;serine-type exopeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HPN	https://www.uniprot.org/uniprot/P05981		https://www.ncbi.nlm.nih.gov/omim/?term=142440	http://www.informatics.jax.org/searchtool/Search.do?query=HPN&submit=Quick%0D%3374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPN	rs3830343	0.122404	0.1324	0.1229	1	0	0	ncRNA_intronic	exonic	ncRNA_intronic	HPN-AS1	HPN	ENSG00000227392	Na	frameshift substitution	Na	Na	HPN:uc002nxt.1:exon2:c.81_81delinsGC,	Na	Het;+C	560;33|25	Hom;+C	1176;0|38
N	N	-	19	3556799	3556799	G	C	snp	ncRNA_intronic	 	 	 	 	AC005786.3																		rs73527958	0.0666933	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MFSD12	MFSD12	ENSG00000267436	Na	Na	Na	Na	Na	Na	Het;G>C	486;3|22	Hom;G>C	712;1|29
N	N	-	19	35597215	35597215	C	A	snp	UTR5	-75C>A	 	 	 	AC020907.1																		rs10422803	0.473842	0	0	1	0	0	upstream	upstream	UTR5	HPN-AS1	HPN-AS1	ENSG00000179066(ENST00000313865:c.-75C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	237;9|13	Hom;C>A	575;0|23
N	N	-	19	35832910	35832926	GTCCTTCCTTCCTTCCT	G	indel	intronic	 	 	 	 	CD22	Cd22	ENSG00000012124	CD22 molecule	chr19:35810164-35838258		sclerosis, systemic; Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; systemic lupus erythematosus; Hemoglobin A, Glycosylated; rheumatoid arthritis	Homozygous null mice have reduced mature B cell numbers with altered proliferation kinetics and reduced antibody production to T cell independent antigens.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0007155;cell adhesion;NAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD22	https://www.uniprot.org/uniprot/P20273		https://www.ncbi.nlm.nih.gov/omim/?term=107266	http://www.informatics.jax.org/searchtool/Search.do?query=CD22&submit=Quick%0D%573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD22	rs745507922	0	0	0.1516	1	0	0	intronic	intronic	intronic	CD22	CD22	ENSG00000012124	Na	Na	Na	Na	Na	Na	Het;-TCCTTCCTTCCTTCCT	456;16|13	Hom;-TCCTTCCTTCCTTCCT	979;2|25
N	N	-	19	35889533	35889533	T	C	snp	upstream	 	 	 	 	LINC01531																		rs12986261	0.402955	0	0	1	0	0	intergenic	intergenic	upstream	FFAR3(dist=38144),LINC01531(dist=6976)	FFAR3(dist=26232),LOC100128682(dist=6976)	ENSG00000205786	Na	Na	Na	Na	Na	Na	Het;T>C	174;5|10	Hom;T>C	292;0|11
N	N	-	19	35896594	35896594	A	G	snp	ncRNA_intronic	 	 	 	 	LOC100128682																		rs4805126	0.706869	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01531	LOC100128682	ENSG00000205786	Na	Na	Na	Na	Na	Na	Het;A>G	801;69|42	Hom;A>G	2286;2|89
N	N	-	19	3595923	3595923	G	A	snp	synonymous SNV	C795T	I265I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TBXA2R	Tbxa2r	ENSG00000006638	thromboxane A2 receptor	chr19:3594504-3606838	This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]	Asthma; Alzheimer's disease ; Asthma|; epithelial ovarian cancer ; asthma; Type 2 Diabetes| edema | rosiglitazone; asthma asthma, aspirin-intolerant; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; cerebral infarct, atherosclerotic; dermatitis, atopic; Cerebral Infarction	Homozygotes for a null allele show prolonged bleeding, and altered platelet aggregation and vascular responses to TXA2, arachidonic acid and injury. Homozygotes for another null allele show splenomegaly, reduced DC-T cell adhesion, enhanced contact hypersensitivity, and cervical lymphadenopathy.	Thromboxane signalling through TP receptor	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0030194;positive regulation of blood coagulation;IEA|GO:0033574;response to testosterone;IEA|GO:0038193;thromboxane A2 signaling pathway;IEA|GO:0042493;response to drug;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045471;response to ethanol;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045777;positive regulation of blood pressure;IBA|GO:0045907;positive regulation of vasoconstriction;IBA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004960;thromboxane receptor activity;IEA|GO:0004961;thromboxane A2 receptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBXA2R	https://www.uniprot.org/uniprot/P21731		https://www.ncbi.nlm.nih.gov/omim/?term=188070	http://www.informatics.jax.org/searchtool/Search.do?query=TBXA2R&submit=Quick%0D%412ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBXA2R	rs1131882	0.234625	0.1208	0.2652	0.14	1	7	exonic	exonic	exonic	TBXA2R	TBXA2R	ENSG00000006638	synonymous SNV	synonymous SNV	unknown	TBXA2R:NM_201636:exon3:c.C795T:p.I265I,TBXA2R:NM_001060:exon3:c.C795T:p.I265I,	TBXA2R:uc002lyg.2:exon3:c.C795T:p.I265I,TBXA2R:uc021umv.1:exon3:c.C795T:p.I265I,	UNKNOWN	Het;G>A	1017;62|52	Hom;G>A	2902;0|107
N	N	-	19	36105917	36105917	A	G	snp	intronic	 	 	 	 	HAUS5	Haus5	ENSG00000249115	HAUS augmin like complex subunit 5	chr19:36103646-36116251	HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS5			https://www.ncbi.nlm.nih.gov/omim/?term=613432	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS5&submit=Quick%0D%19911ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS5	rs34572637	0.265775	0.2418	0.3811	1	0	0	intronic	intronic	intronic	HAUS5	HAUS5	ENSG00000249115	Na	Na	Na	Na	Na	Na	Het;A>G	861;49|40	Hom;A>G	2515;0|92
N	N	-	19	36113658	36113658	A	G	snp	intronic	 	 	 	 	HAUS5	Haus5	ENSG00000249115	HAUS augmin like complex subunit 5	chr19:36103646-36116251	HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/HAUS5			https://www.ncbi.nlm.nih.gov/omim/?term=613432	http://www.informatics.jax.org/searchtool/Search.do?query=HAUS5&submit=Quick%0D%19911ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS5	rs2285414	0.729233	0.6373	0.6367	1	0	0	intronic	intronic	intronic	HAUS5	HAUS5	ENSG00000249115	Na	Na	Na	Na	Na	Na	Het;A>G	542;24|25	Hom;A>G	356;0|13
N	N	-	19	36133982	36133983	TG	T	indel	intronic	 	 	 	 	ETV2	Etv2	ENSG00000105672	ETS variant 2	chr19:36132647-36135773			Mice homozygous for null alleles die during organogenesis and lack blood vessels. In addition, mice homozygous for one allele lack endocardial cells, while mice homozygous for another allele lack blood cells.		GO:0001701;in utero embryonic development;IEA|GO:0001707;mesoderm formation;IEA|GO:0001824;blastocyst development;IEA|GO:0001890;placenta development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IBA|GO:0030218;erythrocyte differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060803;BMP signaling pathway involved in mesodermal cell fate specification;IEA|GO:2000382;positive regulation of mesoderm development;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ETV2	https://www.uniprot.org/uniprot/O00321		https://www.ncbi.nlm.nih.gov/omim/?term=609358	http://www.informatics.jax.org/searchtool/Search.do?query=ETV2&submit=Quick%0D%3361ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV2	rs3214104	0.266773	0.2568	0.3610	1	0	0	intronic	intronic	intronic	ETV2	ETV2	ENSG00000105672	Na	Na	Na	Na	Na	Na	Het;-G	700;27|26	Hom;-G	1779;0|53
N	N	-	19	36135279	36135279	C	CT	indel	unknown	 	 	 	 	ETV2	Etv2	ENSG00000105672	ETS variant 2	chr19:36132647-36135773			Mice homozygous for null alleles die during organogenesis and lack blood vessels. In addition, mice homozygous for one allele lack endocardial cells, while mice homozygous for another allele lack blood cells.		GO:0001701;in utero embryonic development;IEA|GO:0001707;mesoderm formation;IEA|GO:0001824;blastocyst development;IEA|GO:0001890;placenta development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IBA|GO:0030218;erythrocyte differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060803;BMP signaling pathway involved in mesodermal cell fate specification;IEA|GO:2000382;positive regulation of mesoderm development;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ETV2	https://www.uniprot.org/uniprot/O00321		https://www.ncbi.nlm.nih.gov/omim/?term=609358	http://www.informatics.jax.org/searchtool/Search.do?query=ETV2&submit=Quick%0D%3361ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV2	rs3835005	0.857228	0.7161	0.7642	1	0	0	intronic	intronic	exonic	ETV2	ETV2	ENSG00000105672	Na	Na	unknown	Na	Na	UNKNOWN	Het;+T	406;14|13	Hom;+T	767;0|20
N	N	-	19	36168914	36168914	T	C	snp	nonsynonymous SNV	T770C	M257T	hydrophobic,neutral	polar,hydrophilic,neutral	UPK1A	Upk1a	ENSG00000105668	uroplakin 1A	chr19:36157715-36169367	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]	vesicoureteral reflux	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0030855;epithelial cell differentiation;IDA|GO:0051259;protein oligomerization;ISS	GO:0005783;endoplasmic reticulum;ISS|GO:0005886;plasma membrane;ISS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/UPK1A	https://www.uniprot.org/uniprot/O00322		https://www.ncbi.nlm.nih.gov/omim/?term=611557	http://www.informatics.jax.org/searchtool/Search.do?query=UPK1A&submit=Quick%0D%3358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UPK1A	rs2285421	0.658746	0.5864	0.6012	0.08	1	12	exonic	exonic	exonic	UPK1A	UPK1A	ENSG00000105668	nonsynonymous SNV	nonsynonymous SNV	unknown	UPK1A:NM_007000:exon8:c.T770C:p.M257T,	UPK1A:uc002oaw.3:exon7:c.T770C:p.M257T,	UNKNOWN	Het;T>C	905;50|45	Hom;T>C	1710;0|63
N	N	-	19	36219209	36219209	A	G	snp	ncRNA_intronic	 	 	 	 	ENSG00000105663																		rs231592	0.619609	0	0	1	0	0	intronic	intronic	ncRNA_intronic	KMT2B	KMT2B	ENSG00000105663	Na	Na	Na	Na	Na	Na	Het;A>G	297;15|10	Hom;A>G	619;0|18
N	N	-	19	36224705	36224705	A	G	snp	nonsynonymous SNV	A7091G	D2364G	polar,hydrophilic,charged(-)	aliphatic,neutral	KMT2B	Kmt2b	ENSG00000272333	lysine methyltransferase 2B	chr19:36208921-36229779	This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]	Complex early-onset dystonia	Homozygous disruption of this gene leads to embryonic growth retardation, abnormal somite development, neural tube defects, increased apoptosis, and complete embryonic lethality. Homozygotes for a hypomorphic allele show embryonic growth arrest, altered DNA methylation, and reduced female fertility.	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007613;memory;IEA|GO:0009994;oocyte differentiation;IEA|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030728;ovulation;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;NAS|GO:0051568;histone H3-K4 methylation;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KMT2B		https://hpo.jax.org/app/browse/search?q=KMT2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606834	http://www.informatics.jax.org/searchtool/Search.do?query=KMT2B&submit=Quick%0D%20862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2B	rs231591	0.620407	0.5792	0.5331	0.15	2	13	exonic	exonic	exonic	KMT2B	KMT2B	ENSG00000272333	nonsynonymous SNV	nonsynonymous SNV	unknown	KMT2B:NM_014727:exon30:c.A7091G:p.D2364G,	KMT2B:uc021usv.1:exon30:c.A7091G:p.D2364G,	UNKNOWN	Het;A>G	1901;97|87	Hom;A>G	3806;0|140
N	N	-	19	36243190	36243190	T	C	snp	ncRNA_exonic	 	 	 	 	AL137752																		rs231244	0.616214	0.5767	0.5627	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	LIN37	AL137752	ENSG00000267439	Na	Na	Na	Na	Na	Na	Het;T>C	661;20|29	Hom;T>C	1599;0|55
N	N	-	19	36253317	36253317	C	T	snp	UTR3	*18C>T	 	 	 	PROSER3																		rs807479	0.610024	0	0.5907	1	0	0	intronic	UTR3	UTR3	PROSER3	C19orf55(uc002obo.1:c.*18C>T,uc002obp.3:c.*18C>T)	ENSG00000167595(ENST00000536950:c.*18C>T,ENST00000537459:c.*18C>T,ENST00000421853:c.*18C>T,ENST00000539771:c.*214C>T,ENST00000601095:c.*18C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	734;26|34	Hom;C>T	1928;0|72
N	N	-	19	36257932	36257934	CCT	C	indel	UTR3	*22_*24delinsC	 	 	 	PROSER3																		rs35876904	0.771565	0	0.6489	1	0	0	intronic	intronic	UTR3	PROSER3	C19orf55	ENSG00000167595(ENST00000535581:c.*22_*24delinsC)	Na	Na	Na	Na	Na	Na	Het;-CT	158;8|6	Hom;-CT	712;0|19
N	N	-	19	36276086	36276086	C	T	snp	intronic	 	 	 	 	ARHGAP33	Arhgap33	ENSG00000004777	Rho GTPase activating protein 33	chr19:36265434-36279724	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]	plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity.	Rho GTPase cycle	GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IBA|GO:0015629;actin cytoskeleton;IBA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP33	https://www.uniprot.org/uniprot/O14559		https://www.ncbi.nlm.nih.gov/omim/?term=614902	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP33&submit=Quick%0D%325ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP33	rs2239949	0.401957	0.3153	0.3786	1	0	0	intronic	intronic	intronic	ARHGAP33	ARHGAP33	ENSG00000004777	Na	Na	Na	Na	Na	Na	Het;C>T	852;29|38	Hom;C>T	1300;0|50
N	N	-	19	36282543	36282543	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01529																		rs231236	0.76877	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01529	AK055260	ENSG00000225872	Na	Na	Na	Na	Na	Na	Het;A>G	2217;85|94	Hom;A>G	4505;1|152
N	N	-	19	3647440	3647440	A	G	snp	intronic	 	 	 	 	PIP5K1C	Pip5k1c	ENSG00000186111	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	chr19:3630181-3700477	This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]	HIV Infections|[X]Human immunodeficiency virus disease	Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects.	Clathrin-mediated endocytosis	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;TAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0034333;adherens junction assembly;TAS|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048488;synaptic vesicle endocytosis;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS	GO:0001891;phagocytic cup;IEA|GO:0001931;uropod;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1C		https://hpo.jax.org/app/browse/search?q=PIP5K1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606102	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1C&submit=Quick%0D%15570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1C	rs4806948	0.836661	0.8428	0	1	0	0	intronic	intronic	intronic	PIP5K1C	PIP5K1C	ENSG00000186111	Na	Na	Na	Na	Na	Na	Het;A>G	302;15|15	Hom;A>G	758;0|26
N	N	-	19	3653525	3653525	C	T	snp	synonymous SNV	G684A	S228S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PIP5K1C	Pip5k1c	ENSG00000186111	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	chr19:3630181-3700477	This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]	HIV Infections|[X]Human immunodeficiency virus disease	Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects.	Clathrin-mediated endocytosis	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;TAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0034333;adherens junction assembly;TAS|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048488;synaptic vesicle endocytosis;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS	GO:0001891;phagocytic cup;IEA|GO:0001931;uropod;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1C		https://hpo.jax.org/app/browse/search?q=PIP5K1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606102	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1C&submit=Quick%0D%15570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1C	rs2074957	0.542931	0.5294	0.5603	1	0	0	exonic	exonic	exonic	PIP5K1C	PIP5K1C	ENSG00000186111	synonymous SNV	synonymous SNV	unknown	PIP5K1C:NM_001300849:exon7:c.G684A:p.S228S,PIP5K1C:NM_001195733:exon7:c.G684A:p.S228S,PIP5K1C:NM_012398:exon7:c.G684A:p.S228S,	PIP5K1C:uc010xhq.2:exon7:c.G684A:p.S228S,PIP5K1C:uc010xhr.2:exon7:c.G684A:p.S228S,PIP5K1C:uc002lyj.2:exon7:c.G684A:p.S228S,	UNKNOWN	Het;C>T	2108;75|94	Hom;C>T	5512;0|199
N	N	-	19	36595436	36595436	A	C	snp	nonsynonymous SNV	A4170C	L1390F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	WDR62	Wdr62	ENSG00000075702	WD repeat domain 62	chr19:36545783-36596008	This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]	microcephaly cortical malformations and mental retardation (MCMMR)	Mice for a hypomorphic allele exhibit reduced brain size due to decreased neural progenitor cells. Cells show spindle instability, spindle assembly checkpoint activation, mitotic arrest and cell death.		GO:0007052;mitotic spindle organization;IMP|GO:0007099;centriole replication;IMP|GO:0007399;nervous system development;IEA|GO:0008380;RNA splicing;IBA|GO:0021987;cerebral cortex development;IMP|GO:0022008;neurogenesis;IMP	GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR62	https://www.uniprot.org/uniprot/O43379	https://hpo.jax.org/app/browse/search?q=WDR62&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613583	http://www.informatics.jax.org/searchtool/Search.do?query=WDR62&submit=Quick%0D%1559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR62	rs1008328	0.716254	0.7490	0.7428	0.08	1	13	exonic	exonic	exonic	WDR62	WDR62	ENSG00000075702	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR62:NM_001083961:exon31:c.A4170C:p.L1390F,WDR62:NM_173636:exon31:c.A4155C:p.L1385F,	WDR62:uc002odc.2:exon31:c.A4155C:p.L1385F,WDR62:uc002odd.2:exon31:c.A4170C:p.L1390F,	UNKNOWN	Het;A>C	663;17|30	Hom;A>C	1656;0|60
N	N	-	19	3660944	3660944	G	A	snp	intronic	 	 	 	 	PIP5K1C	Pip5k1c	ENSG00000186111	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	chr19:3630181-3700477	This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]	HIV Infections|[X]Human immunodeficiency virus disease	Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects.	Clathrin-mediated endocytosis	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;TAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0034333;adherens junction assembly;TAS|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048488;synaptic vesicle endocytosis;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS	GO:0001891;phagocytic cup;IEA|GO:0001931;uropod;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1C		https://hpo.jax.org/app/browse/search?q=PIP5K1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606102	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1C&submit=Quick%0D%15570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1C	rs3826944	0.558506	0.5402	0.5644	1	0	0	intronic	intronic	intronic	PIP5K1C	PIP5K1C	ENSG00000186111	Na	Na	Na	Na	Na	Na	Het;G>A	1293;71|63	Hom;G>A	3144;0|117
N	N	-	19	36674305	36674305	A	G	snp	nonsynonymous SNV	T563C	I188T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ZNF565	Zfp84	ENSG00000196357	zinc finger protein 565	chr19:36673188-36737159			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF565			https://www.ncbi.nlm.nih.gov/omim/?term=614275	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF565&submit=Quick%0D%16331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF565	rs4805162	0.630391	0.6136	0.5543	0.15	2	13	exonic	exonic	exonic	ZNF565	ZNF565	ENSG00000196357	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF565:NM_152477:exon5:c.T563C:p.I188T,ZNF565:NM_001042474:exon5:c.T563C:p.I188T,	ZNF565:uc002odn.3:exon5:c.T563C:p.I188T,ZNF565:uc010ees.3:exon4:c.T368C:p.I123T,ZNF565:uc002odo.3:exon5:c.T563C:p.I188T,	UNKNOWN	Het;A>G	964;43|37	Hom;A>G	2199;0|69
N	N	-	19	36685310	36685310	C	T	snp	intronic	 	 	 	 	ZNF565	Zfp84	ENSG00000196357	zinc finger protein 565	chr19:36673188-36737159			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF565			https://www.ncbi.nlm.nih.gov/omim/?term=614275	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF565&submit=Quick%0D%16331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF565	rs2287897	0.589657	0	0	1	0	0	intronic	intronic	intronic	ZNF565	ZNF565	ENSG00000196357	Na	Na	Na	Na	Na	Na	Het;C>T	287;7|8	Hom;C>T	673;0|17
N	N	-	19	36685316	36685316	T	C	snp	intronic	 	 	 	 	ZNF565	Zfp84	ENSG00000196357	zinc finger protein 565	chr19:36673188-36737159			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF565			https://www.ncbi.nlm.nih.gov/omim/?term=614275	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF565&submit=Quick%0D%16331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF565	rs2287898	0.60004	0	0	1	0	0	intronic	intronic	intronic	ZNF565	ZNF565	ENSG00000196357	Na	Na	Na	Na	Na	Na	Het;T>C	309;7|9	Hom;T>C	641;0|14
N	N	-	19	36728290	36728290	A	G	snp	UTR3	*69A>G	 	 	 	ZNF146	Zfp146	ENSG00000167635	zinc finger protein 146	chr19:36705504-36729676		Arteries	 		GO:0006355;regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008201;heparin binding;TAS|GO:0008270;zinc ion binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF146			https://www.ncbi.nlm.nih.gov/omim/?term=601505	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF146&submit=Quick%0D%12065ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF146	rs4806293	0.146765	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF146(NM_001099639:c.*69A>G,NM_007145:c.*69A>G,NM_001099638:c.*69A>G)	ZNF146(uc002odq.4:c.*69A>G,uc010eet.3:c.*69A>G,uc010eeu.3:c.*69A>G)	ENSG00000167635(ENST00000456324:c.*69A>G,ENST00000443387:c.*69A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	121;6|7	Hom;A>G	184;0|8
N	N	-	19	36801394	36801394	A	T	snp	ncRNA_exonic	 	 	 	 	AC012617.1																		rs141716170	0.111422	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LOC100134317	LOC100134317	ENSG00000267053	Na	Na	Na	Na	Na	Na	Het;A>T	161;11|8	Hom;A>T	464;2|18
N	N	-	19	36807016	36807016	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00665																		rs2918346	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00665	LINC00665	ENSG00000232677	Na	Na	Na	Na	Na	Na	Het;T>C	1735;84|83	Hom;T>C	3034;0|106
N	N	-	19	36812822	36812822	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00665																		rs2972633	0.646965	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00665	LINC00665	ENSG00000232677	Na	Na	Na	Na	Na	Na	Het;A>G	529;29|25	Hom;A>G	1524;0|53
N	N	-	19	36813084	36813084	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00665																		rs2972632	0.54992	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00665	LINC00665	ENSG00000232677	Na	Na	Na	Na	Na	Na	Het;A>G	392;5|13	Hom;A>G	684;0|20
N	N	-	19	36821198	36821198	T	G	snp	ncRNA_exonic	 	 	 	 	LINC00665																		rs3111556	0.178914	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00665	LINC00665	ENSG00000232677	Na	Na	Na	Na	Na	Na	Het;T>G	395;4|14	Hom;T>G	532;0|19
N	N	-	19	36821209	36821209	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00665																		rs3098393	0.178914	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00665	LINC00665	ENSG00000232677	Na	Na	Na	Na	Na	Na	Het;A>G	375;6|18	Hom;A>G	649;0|24
N	N	-	19	36900778	36900778	A	C	snp	intronic	 	 	 	 	ZFP82	Zfp82	ENSG00000181007	ZFP82 zinc finger protein	chr19:36874022-36909558			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP82				http://www.informatics.jax.org/searchtool/Search.do?query=ZFP82&submit=Quick%0D%14565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP82	rs2271842	0.136182	0.1689	0	1	0	0	intronic	intronic	intronic	ZFP82	ZFP82	ENSG00000181007	Na	Na	Na	Na	Na	Na	Het;A>C	53;2|4	Hom;A>C	97;0|4
N	N	-	19	36912559	36912559	A	G	snp	ncRNA_exonic	 	 	 	 	LOC644189																		rs2945948	0.653355	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC644189	LOC644189(uc002odz.2:c.*105A>G)	ENSG00000267142	Na	Na	Na	Na	Na	Na	Het;A>G	158;2|6	Hom;A>G	714;0|20
N	N	-	19	36912860	36912860	G	A	snp	ncRNA_exonic	 	 	 	 	LOC644189																		rs10426014	0.611222	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC644189	LOC644189(uc002odz.2:c.*406G>A)	ENSG00000267142	Na	Na	Na	Na	Na	Na	Het;G>A	1084;33|48	Hom;G>A	2507;0|89
N	N	-	19	36912925	36912925	A	T	snp	ncRNA_exonic	 	 	 	 	LOC644189																		rs10402405	0.654153	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC644189	LOC644189(uc002odz.2:c.*471A>T)	ENSG00000267142	Na	Na	Na	Na	Na	Na	Het;A>T	785;36|34	Hom;A>T	1359;0|43
N	N	-	19	36981218	36981218	G	A	snp	ncRNA_exonic	 	 	 	 	LOC728752																		rs2967473	0.746206	0	0.8316	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC728752	LOC728752(uc021uth.1:c.*6G>A)	ENSG00000267309	Na	Na	Na	Na	Na	Na	Het;G>A	1909;118|91	Hom;G>A	4732;1|180
N	N	-	19	3698842	3698842	A	G	snp	intronic	 	 	 	 	PIP5K1C	Pip5k1c	ENSG00000186111	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	chr19:3630181-3700477	This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]	HIV Infections|[X]Human immunodeficiency virus disease	Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects.	Clathrin-mediated endocytosis	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;TAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0034333;adherens junction assembly;TAS|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048488;synaptic vesicle endocytosis;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS	GO:0001891;phagocytic cup;IEA|GO:0001931;uropod;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1C		https://hpo.jax.org/app/browse/search?q=PIP5K1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606102	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1C&submit=Quick%0D%15570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1C	rs4432372	0.547125	0	0	1	0	0	intronic	intronic	intronic	PIP5K1C	PIP5K1C	ENSG00000186111	Na	Na	Na	Na	Na	Na	Het;A>G	129;4|7	Hom;A>G	71;0|4
N	N	-	19	3698984	3698984	T	C	snp	intronic	 	 	 	 	PIP5K1C	Pip5k1c	ENSG00000186111	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	chr19:3630181-3700477	This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]	HIV Infections|[X]Human immunodeficiency virus disease	Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects.	Clathrin-mediated endocytosis	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;TAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0034333;adherens junction assembly;TAS|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048488;synaptic vesicle endocytosis;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS	GO:0001891;phagocytic cup;IEA|GO:0001931;uropod;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1C		https://hpo.jax.org/app/browse/search?q=PIP5K1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606102	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1C&submit=Quick%0D%15570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1C	rs8101192	0.519569	0	0	1	0	0	intronic	intronic	intronic	PIP5K1C	PIP5K1C	ENSG00000186111	Na	Na	Na	Na	Na	Na	Het;T>C	120;4|5	Hom;T>C	135;0|4
N	N	-	19	37038092	37038092	T	C	snp	synonymous SNV	A1053G	G351G	aliphatic,neutral	aliphatic,neutral	ZNF529	 	ENSG00000186020	zinc finger protein 529	chr19:37025676-37096178			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF529				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF529&submit=Quick%0D%15550ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF529	rs2278168	0.22504	0.2286	0.2187	1	0	0	exonic	exonic	exonic	ZNF529	ZNF529	ENSG00000186020	synonymous SNV	synonymous SNV	unknown	ZNF529:NM_001145649:exon6:c.A1368G:p.G456G,ZNF529:NM_001145650:exon5:c.A1314G:p.G438G,ZNF529:NM_020951:exon5:c.A1368G:p.G456G,	ZNF529:uc002oeg.4:exon6:c.A1053G:p.G351G,ZNF529:uc010xti.2:exon5:c.A1314G:p.G438G,ZNF529:uc010xth.2:exon6:c.A1368G:p.G456G,ZNF529:uc002oeh.4:exon5:c.A1368G:p.G456G,	UNKNOWN	Het;T>C	627;20|30	Hom;T>C	1282;0|48
N	N	-	19	37039069	37039069	A	C	snp	nonsynonymous SNV	T391G	L131V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF529	 	ENSG00000186020	zinc finger protein 529	chr19:37025676-37096178			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF529				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF529&submit=Quick%0D%15550ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF529	rs2912444	0.651558	0.7220	0.6472	0.14	1	7	exonic	exonic	exonic	ZNF529	ZNF529	ENSG00000186020	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF529:NM_001145649:exon6:c.T391G:p.L131V,ZNF529:NM_001145650:exon5:c.T337G:p.L113V,ZNF529:NM_020951:exon5:c.T391G:p.L131V,	ZNF529:uc002oeg.4:exon6:c.T76G:p.L26V,ZNF529:uc010xti.2:exon5:c.T337G:p.L113V,ZNF529:uc010xth.2:exon6:c.T391G:p.L131V,ZNF529:uc002oeh.4:exon5:c.T391G:p.L131V,	UNKNOWN	Het;A>C	2393;91|104	Hom;A>C	4797;0|177
N	N	-	19	37063218	37063218	C	CA	indel	intronic	 	 	 	 	ZNF529	 	ENSG00000186020	zinc finger protein 529	chr19:37025676-37096178			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF529				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF529&submit=Quick%0D%15550ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF529	rs11448179	0.329673	0.3669	0.4273	1	0	0	intronic	intronic	intronic	ZNF529	ZNF529	ENSG00000186020	Na	Na	Na	Na	Na	Na	Het;+A	755;23|42	Hom;+A	1649;2|66
N	N	-	19	37064032	37064032	T	C	snp	ncRNA_exonic	 	 	 	 	ZNF529-AS1																		rs3745779	0.180312	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZNF529-AS1	BC039524	ENSG00000233527	Na	Na	Na	Na	Na	Na	Het;T>C	5296;219|248	Hom;T>C	10760;1|388
N	N	-	19	37064240	37064240	A	G	snp	ncRNA_exonic	 	 	 	 	ZNF529-AS1																		rs2967442	0.638778	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZNF529-AS1	BC039524	ENSG00000233527	Na	Na	Na	Na	Na	Na	Het;A>G	1960;50|84	Hom;A>G	3199;1|109
N	N	-	19	37065732	37065732	A	C	snp	ncRNA_exonic	 	 	 	 	ZNF529-AS1																		rs2912406	0.313698	0	0.2594	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZNF529-AS1	BC039524	ENSG00000233527	Na	Na	Na	Na	Na	Na	Het;A>C	938;86|50	Hom;A>C	3379;0|126
N	N	-	19	37068908	37068909	AT	A	indel	ncRNA_intronic	 	 	 	 	BC039524																		rs11344496	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ZNF529-AS1	BC039524	ENSG00000233527	Na	Na	Na	Na	Na	Na	Het;-T	46;2|4	Hom;-T	137;0|7
N	N	-	19	37071639	37071639	C	T	snp	ncRNA_intronic	 	 	 	 	BC039524																		rs2967470	0.310304	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ZNF529-AS1	BC039524	ENSG00000233527	Na	Na	Na	Na	Na	Na	Het;C>T	1149;78|57	Hom;C>T	2401;0|89
N	N	-	19	37073295	37073295	C	CA	indel	ncRNA_intronic	 	 	 	 	BC039524																		rs34619349	0.309704	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ZNF529-AS1	BC039524	ENSG00000233527	Na	Na	Na	Na	Na	Na	Het;+A	122;24|9	Hom;+A	1427;2|53
N	N	-	19	37085469	37085469	A	G	snp	ncRNA_exonic	 	 	 	 	ZNF529-AS1																		rs2967427	0.648562	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZNF529-AS1	BC039524	ENSG00000233527	Na	Na	Na	Na	Na	Na	Het;A>G	584;27|24	Hom;A>G	1964;0|62
N	N	-	19	37118439	37118439	C	T	snp	nonsynonymous SNV	C1640T	T547M	polar,hydrophilic,neutral	hydrophobic,neutral	ZNF382	Zfp382	ENSG00000161298	zinc finger protein 382	chr19:37095719-37119499	This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]		 	Generic Transcription Pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF382			https://www.ncbi.nlm.nih.gov/omim/?term=609516	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF382&submit=Quick%0D%10573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF382	rs61732180	0.130591	0.1571	0.1852	0.08	1	13	exonic	exonic	exonic	ZNF382	ZNF382	ENSG00000161298	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF382:NM_032825:exon5:c.C1640T:p.T547M,ZNF382:NM_001256838:exon5:c.C1637T:p.T546M,	ZNF382:uc010efa.3:exon4:c.C1493T:p.T498M,ZNF382:uc002oek.4:exon5:c.C1640T:p.T547M,ZNF382:uc010efb.4:exon5:c.C1637T:p.T546M,ZNF382:uc002oel.3:exon3:c.C1637T:p.T546M,	UNKNOWN	Het;C>T	161;12|9	Hom;C>T	675;0|26
N	N	-	19	37147330	37147330	T	G	snp	intronic	 	 	 	 	ZNF461	 	ENSG00000197808	zinc finger protein 461	chr19:37128094-37157755		Neutrophils; Lymphocytes	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF461			https://www.ncbi.nlm.nih.gov/omim/?term=608640	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF461&submit=Quick%0D%16723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF461	rs12981751	0.332668	0.3490	0.3422	1	0	0	intronic	intronic	intronic	ZNF461	ZNF461	ENSG00000197808	Na	Na	Na	Na	Na	Na	Het;T>G	451;21|21	Hom;T>G	482;2|19
N	N	-	19	37210529	37210529	A	G	snp	synonymous SNV	A810G	R270R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZNF567	Zfp300	ENSG00000189042	zinc finger protein 567	chr19:37178514-37218603		Lymphocytes; Neutrophils	 	Generic Transcription Pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF567				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF567&submit=Quick%0D%16163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF567	rs3108200	0.26857	0.3128	0.2752	1	0	0	exonic	exonic	exonic	ZNF567	ZNF567	ENSG00000189042	synonymous SNV	synonymous SNV	unknown	ZNF567:NM_152603:exon4:c.A810G:p.R270R,ZNF567:NM_001300979:exon6:c.A903G:p.R301R,	ZNF567:uc002oep.4:exon4:c.A810G:p.R270R,ZNF567:uc010xtl.2:exon6:c.A903G:p.R301R,ZNF567:uc002oeo.1:exon6:c.A903G:p.R301R,ZNF567:uc002oeq.1:exon4:c.A810G:p.R270R,ZNF567:uc010xtk.1:exon5:c.A903G:p.R301R,	UNKNOWN	Het;A>G	807;44|35	Hom;A>G	1884;0|60
N	N	-	19	37241141	37241141	A	G	snp	synonymous SNV	T801C	H267H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZNF850	 	ENSG00000267041	zinc finger protein 850	chr19:37205285-37263727			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF850				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF850&submit=Quick%0D%20638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF850	rs1673082	0.766374	0	0.8252	1	0	0	exonic	exonic	exonic	ZNF850	ZNF850	ENSG00000267041	synonymous SNV	synonymous SNV	unknown	ZNF850:NM_001267779:exon4:c.T705C:p.H235H,ZNF850:NM_001193552:exon5:c.T801C:p.H267H,	ZNF850:uc010efc.3:exon5:c.T801C:p.H267H,ZNF850:uc010xtm.3:exon4:c.T705C:p.H235H,	UNKNOWN	Het;A>G	1379;70|67	Hom;A>G	4199;0|154
N	N	-	19	37241781	37241781	G	A	snp	intronic	 	 	 	 	ZNF850	 	ENSG00000267041	zinc finger protein 850	chr19:37205285-37263727			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF850				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF850&submit=Quick%0D%20638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF850	rs2462576	0.322085	0	0	1	0	0	intronic	intronic	intronic	ZNF850	ZNF850	ENSG00000267041	Na	Na	Na	Na	Na	Na	Het;G>A	347;10|13	Hom;G>A	768;0|25
N	N	-	19	37264017	37264017	C	T	snp	upstream;downstream	 	 	 	 	ZNF850	 	ENSG00000267041	zinc finger protein 850	chr19:37205285-37263727			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF850				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF850&submit=Quick%0D%20638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF850	rs1673086	0.683706	0	0	1	0	0	upstream	upstream	upstream;downstream	LOC728485,ZNF850	AX747375,ZNF850	ENSG00000267041,ENSG00000267260;ENSG00000267353	Na	Na	Na	Na	Na	Na	Het;C>T	94;5|4	Hom;C>T	638;0|23
N	N	-	19	37288454	37288454	C	T	snp	ncRNA_exonic	 	 	 	 	ZNF790-AS1																		rs826967	0.695487	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZNF790-AS1	ZNF790-AS1	ENSG00000267254	Na	Na	Na	Na	Na	Na	Het;C>T	642;37|31	Hom;C>T	1600;0|55
N	N	-	19	3749971	3749971	A	G	snp	ncRNA_intronic	 	 	 	 	MIR1268A																		rs7257905	0.516773	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	TJP3	ENSG00000105289	Na	Na	Na	Na	Na	Na	Het;A>G	87;4|4	Hom;A>G	251;0|8
N	N	-	19	3750205	3750205	T	TGG	indel	ncRNA_intronic	 	 	 	 	MIR1268A																		rs10692689	0.517971	0.4599	0.5450	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	TJP3	ENSG00000105289	Na	Na	Na	Na	Na	Na	Het;+GG	2111;77|62	Hom;+GG	4589;0|111
N	N	-	19	3750615	3750615	T	C	snp	nonsynonymous SNV	T2693C	M898T	hydrophobic,neutral	polar,hydrophilic,neutral	TJP3	Tjp3	ENSG00000105289	tight junction protein 3	chr19:3708107-3750811	The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]	Inflammation	Homozygous mutation of this gene results in viable and fertile mice with no abnormalities.			GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TJP3	https://www.uniprot.org/uniprot/O95049		https://www.ncbi.nlm.nih.gov/omim/?term=612689	http://www.informatics.jax.org/searchtool/Search.do?query=TJP3&submit=Quick%0D%3270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP3	rs1046268	0.533347	0.4865	0.5862	0.08	1	13	exonic	exonic	exonic	TJP3	TJP3	ENSG00000105289	nonsynonymous SNV	nonsynonymous SNV	unknown	TJP3:NM_001267560:exon21:c.T2693C:p.M898T,TJP3:NM_001267561:exon21:c.T2720C:p.M907T,	TJP3:uc010xhw.3:exon20:c.T2693C:p.M898T,TJP3:uc010xht.3:exon20:c.T2585C:p.M862T,TJP3:uc010xhu.3:exon21:c.T2720C:p.M907T,TJP3:uc010xhs.3:exon21:c.T2693C:p.M898T,	UNKNOWN	Het;T>C	2702;84|70	Hom;T>C	6474;2|141
N	N	-	19	3750622	3750622	A	C	snp	synonymous SNV	A2700C	V900V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TJP3	Tjp3	ENSG00000105289	tight junction protein 3	chr19:3708107-3750811	The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]	Inflammation	Homozygous mutation of this gene results in viable and fertile mice with no abnormalities.			GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TJP3	https://www.uniprot.org/uniprot/O95049		https://www.ncbi.nlm.nih.gov/omim/?term=612689	http://www.informatics.jax.org/searchtool/Search.do?query=TJP3&submit=Quick%0D%3270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP3	rs1046271	0.596246	0.5496	0.6012	1	0	0	exonic	exonic	exonic	TJP3	TJP3	ENSG00000105289	synonymous SNV	synonymous SNV	unknown	TJP3:NM_001267560:exon21:c.A2700C:p.V900V,TJP3:NM_001267561:exon21:c.A2727C:p.V909V,	TJP3:uc010xhw.3:exon20:c.A2700C:p.V900V,TJP3:uc010xht.3:exon20:c.A2592C:p.V864V,TJP3:uc010xhu.3:exon21:c.A2727C:p.V909V,TJP3:uc010xhs.3:exon21:c.A2700C:p.V900V,	UNKNOWN	Het;A>C	2983;88|84	Hom;A>C	6608;2|156
N	N	-	19	3750690	3750690	A	C	snp	UTR3	*8A>C	 	 	 	TJP3	Tjp3	ENSG00000105289	tight junction protein 3	chr19:3708107-3750811	The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]	Inflammation	Homozygous mutation of this gene results in viable and fertile mice with no abnormalities.			GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TJP3	https://www.uniprot.org/uniprot/O95049		https://www.ncbi.nlm.nih.gov/omim/?term=612689	http://www.informatics.jax.org/searchtool/Search.do?query=TJP3&submit=Quick%0D%3270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP3	rs1046278	0.576478	0.5268	0.5922	1	0	0	ncRNA_intronic	UTR3	UTR3	MIR1268A	TJP3(uc010xhs.3:c.*8A>C,uc010xht.3:c.*8A>C,uc010xhu.3:c.*8A>C,uc010xhw.3:c.*8A>C)	ENSG00000105289(ENST00000541714:c.*8A>C,ENST00000539908:c.*8A>C,ENST00000382008:c.*8A>C,ENST00000589378:c.*8A>C,ENST00000587686:c.*8A>C,ENST00000586032:c.*381A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	2003;68|91	Hom;A>C	3560;2|134
N	N	-	19	3752874	3752874	A	G	snp	nonsynonymous SNV	T1126C	C376R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	APBA3	Apba3	ENSG00000011132	amyloid beta precursor protein binding family A member 3	chr19:3750817-3761697	The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]	Narcolepsy; Inflammation	Deletion in mutants causes abnormalities in colon morphology and physiology, increased circulating blood urea nitrogen, and decreased serum chloride, sodium and potassium levels. Surviving homozygotes display diarrhea, postnatal viability and decreased life span.	Neurexins and neuroligins	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043086;negative regulation of catalytic activity;IDA|GO:0050790;regulation of catalytic activity;IEA	GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0001540;beta-amyloid binding;IEA|GO:0004857;enzyme inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APBA3	https://www.uniprot.org/uniprot/O96018		https://www.ncbi.nlm.nih.gov/omim/?term=604262	http://www.informatics.jax.org/searchtool/Search.do?query=APBA3&submit=Quick%0D%544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APBA3	rs8102086	0.539337	0.5035	0.5633	0.08	1	13	exonic	exonic	exonic	APBA3	APBA3	ENSG00000011132	nonsynonymous SNV	nonsynonymous SNV	unknown	APBA3:NM_004886:exon7:c.T1126C:p.C376R,	APBA3:uc002lyo.1:exon4:c.T400C:p.C134R,APBA3:uc002lyp.1:exon7:c.T1126C:p.C376R,	UNKNOWN	Het;A>G	736;59|38	Hom;A>G	2294;0|81
N	N	-	19	3851706	3851706	C	A	snp	ncRNA_intronic	 	 	 	 	MIR1268A																		rs35107765	0.45647	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	ZFR2	ENSG00000105278	Na	Na	Na	Na	Na	Na	Het;C>A	58;3|3	Hom;C>A	110;0|4
N	N	-	19	3852154	3852154	C	A	snp	UTR3	*535G>T	 	 	 	ZFR2	Zfr2	ENSG00000105278	zinc finger RNA binding protein 2	chr19:3804022-3869030		Hypertension	 				GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR2	https://www.uniprot.org/uniprot/Q9UPR6			http://www.informatics.jax.org/searchtool/Search.do?query=ZFR2&submit=Quick%0D%3267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR2	rs4807519	0.716454	0	0	1	0	0	ncRNA_intronic	UTR3	UTR3	MIR1268A	ZFR2(uc010xhy.2:c.*299G>T)	ENSG00000105278(ENST00000586578:c.*535G>T,ENST00000439086:c.*299G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1071;43|50	Hom;C>A	2893;1|111
N	N	-	19	3852280	3852280	T	C	snp	UTR3	*409A>G	 	 	 	ZFR2	Zfr2	ENSG00000105278	zinc finger RNA binding protein 2	chr19:3804022-3869030		Hypertension	 				GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR2	https://www.uniprot.org/uniprot/Q9UPR6			http://www.informatics.jax.org/searchtool/Search.do?query=ZFR2&submit=Quick%0D%3267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR2	rs12459753	0.481829	0	0	1	0	0	ncRNA_intronic	UTR3	UTR3	MIR1268A	ZFR2(uc010xhy.2:c.*173A>G)	ENSG00000105278(ENST00000586578:c.*409A>G,ENST00000439086:c.*173A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1370;86|66	Hom;T>C	4092;0|144
N	N	-	19	38621473	38621473	G	A	snp	intronic	 	 	 	 	SIPA1L3	Sipa1l3	ENSG00000105738	signal induced proliferation associated 1 like 3	chr19:38397868-38699012	This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]	Tobacco Use Disorder; Body Height; Heart Failure	Mice homozygous for a knock-out allele exhibit small lenses, microphthalmia, cataracts, posterior iris synechia, and abnormal lens fiber morphology.		GO:0001654;eye development;IEA|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;IDA|GO:0007010;cytoskeleton organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA|GO:0090162;establishment of epithelial cell polarity;IDA	GO:0001725;stress fiber;IDA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0045177;apical part of cell;IMP|GO:0061689;tricellular tight junction;IDA	GO:0005096;GTPase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIPA1L3	https://www.uniprot.org/uniprot/O60292	https://hpo.jax.org/app/browse/search?q=SIPA1L3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616655	http://www.informatics.jax.org/searchtool/Search.do?query=SIPA1L3&submit=Quick%0D%3382ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIPA1L3	rs861304	0.936701	0	0	1	0	0	intronic	intronic	intronic	SIPA1L3	SIPA1L3	ENSG00000105738	Na	Na	Na	Na	Na	Na	Het;G>A	201;17|12	Hom;G>A	1116;0|40
N	N	-	19	38959196	38959196	T	G	snp	intronic	 	 	 	 	RYR1	Ryr1	ENSG00000196218	ryanodine receptor 1	chr19:38924339-39078204	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy	Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.	Ion homeostasis	GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS	GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RYR1		https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180901	http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1	rs7258075	0.111422	0	0	1	0	0	intronic	intronic	intronic	RYR1	RYR1	ENSG00000196218	Na	Na	Na	Na	Na	Na	Het;T>G	1790;113|90	Hom;T>G	4632;2|171
N	N	-	19	38964541	38964541	A	G	snp	intronic	 	 	 	 	RYR1	Ryr1	ENSG00000196218	ryanodine receptor 1	chr19:38924339-39078204	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy	Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.	Ion homeostasis	GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS	GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RYR1		https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180901	http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1	rs17707979	0.0740815	0	0	1	0	0	intronic	intronic	intronic	RYR1	RYR1	ENSG00000196218	Na	Na	Na	Na	Na	Na	Het;A>G	526;18|22	Hom;A>G	1446;0|43
N	N	-	19	38965952	38965952	T	C	snp	intronic	 	 	 	 	RYR1	Ryr1	ENSG00000196218	ryanodine receptor 1	chr19:38924339-39078204	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy	Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.	Ion homeostasis	GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS	GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RYR1		https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180901	http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1	rs55845760	0.217053	0.2083	0.2427	1	0	0	intronic	intronic	intronic	RYR1	RYR1	ENSG00000196218	Na	Na	Na	Na	Na	Na	Het;T>C	709;43|31	Hom;T>C	1239;1|45
N	N	-	19	38976177	38976177	T	G	snp	intronic	 	 	 	 	RYR1	Ryr1	ENSG00000196218	ryanodine receptor 1	chr19:38924339-39078204	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy	Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.	Ion homeostasis	GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS	GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RYR1		https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180901	http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1	rs16972651	0.240016	0	0	1	0	0	intronic	intronic	intronic	RYR1	RYR1	ENSG00000196218	Na	Na	Na	Na	Na	Na	Het;T>G	769;60|39	Hom;T>G	1668;0|63
N	N	-	19	39053691	39053691	T	C	snp	intronic	 	 	 	 	RYR1	Ryr1	ENSG00000196218	ryanodine receptor 1	chr19:38924339-39078204	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy	Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.	Ion homeostasis	GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS	GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RYR1		https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180901	http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1	rs2960339	0.405351	0	0	1	0	0	intronic	intronic	intronic	RYR1	RYR1	ENSG00000196218	Na	Na	Na	Na	Na	Na	Het;T>C	3887;217|189	Hom;T>C	12479;4|459
N	N	-	19	3976863	3976863	C	T	snp	ncRNA_intronic	 	 	 	 	MIR1268A																		rs62130414	0.066893	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	EEF2	ENSG00000167658	Na	Na	Na	Na	Na	Na	Het;C>T	58;3|3	Hom;C>T	198;0|7
N	N	-	19	39881015	39881015	T	TAGA	indel	intronic	 	 	 	 	PAF1	Paf1	ENSG00000006712	PAF1 homolog, Paf1/RNA polymerase II complex component	chr19:39876492-39881835	This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]		 	E3 ubiquitin ligases ubiquitinate target proteins	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0001711;endodermal cell fate commitment;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0010390;histone monoubiquitination;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016570;histone modification;IEA|GO:0016584;nucleosome positioning;IMP|GO:0019827;stem cell population maintenance;IEA|GO:0031062;positive regulation of histone methylation;IMP|GO:0031442;positive regulation of mRNA 3'-end processing;IMP|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IDA|GO:0033523;histone H2B ubiquitination;IDA|GO:0034504;protein localization to nucleus;IMP|GO:0045638;negative regulation of myeloid cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0071222;cellular response to lipopolysaccharide;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016593;Cdc73/Paf1 complex;IDA|GO:0030054;cell junction;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PAF1	https://www.uniprot.org/uniprot/Q8N7H5		https://www.ncbi.nlm.nih.gov/omim/?term=610506	http://www.informatics.jax.org/searchtool/Search.do?query=PAF1&submit=Quick%0D%417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAF1	rs3217016	0.41873	0.4227	0	1	0	0	intronic	intronic	intronic	PAF1	PAF1	ENSG00000006712	Na	Na	Na	Na	Na	Na	Het;+AGA	343;9|10	Hom;+AGA	932;0|22
N	N	-	19	39888449	39888449	C	T	snp	UTR3	*426C>T	 	 	 	MED29	Med29	ENSG00000063322	mediator complex subunit 29	chr19:39881943-39891277	MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]		 	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016592;mediator complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MED29	https://www.uniprot.org/uniprot/Q9NX70		https://www.ncbi.nlm.nih.gov/omim/?term=612914	http://www.informatics.jax.org/searchtool/Search.do?query=MED29&submit=Quick%0D%1106ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED29	rs519575	0.185104	0	0	1	0	0	UTR3	UTR3	UTR3	MED29(NM_017592:c.*110C>T)	MED29(uc002olf.3:c.*110C>T,uc010xux.3:c.*52C>T)	ENSG00000063322(ENST00000599417:c.*426C>T,ENST00000315588:c.*110C>T,ENST00000594368:c.*52C>T,ENST00000599213:c.*110C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1341;76|68	Hom;C>T	4126;0|149
N	N	-	19	39889044	39889044	A	T	snp	UTR3	*1021A>T	 	 	 	MED29	Med29	ENSG00000063322	mediator complex subunit 29	chr19:39881943-39891277	MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]		 	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016592;mediator complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MED29	https://www.uniprot.org/uniprot/Q9NX70		https://www.ncbi.nlm.nih.gov/omim/?term=612914	http://www.informatics.jax.org/searchtool/Search.do?query=MED29&submit=Quick%0D%1106ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED29	rs10423565	0.480032	0	0	1	0	0	UTR3	UTR3	UTR3	MED29(NM_017592:c.*705A>T)	MED29(uc002olf.3:c.*705A>T,uc010xux.3:c.*647A>T)	ENSG00000063322(ENST00000599417:c.*1021A>T,ENST00000315588:c.*705A>T,ENST00000594368:c.*647A>T,ENST00000599213:c.*705A>T)	Na	Na	Na	Na	Na	Na	Het;A>T	419;49|23	Hom;A>T	2439;0|92
N	N	-	19	39889691	39889691	G	A	snp	UTR3	*1668G>A	 	 	 	MED29	Med29	ENSG00000063322	mediator complex subunit 29	chr19:39881943-39891277	MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]		 	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016592;mediator complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MED29	https://www.uniprot.org/uniprot/Q9NX70		https://www.ncbi.nlm.nih.gov/omim/?term=612914	http://www.informatics.jax.org/searchtool/Search.do?query=MED29&submit=Quick%0D%1106ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED29	rs10425594	0.479832	0	0	1	0	0	UTR3	UTR3	UTR3	MED29(NM_017592:c.*1352G>A)	MED29(uc002olf.3:c.*1352G>A,uc010xux.3:c.*1294G>A)	ENSG00000063322(ENST00000599417:c.*1668G>A,ENST00000315588:c.*1352G>A,ENST00000599213:c.*1352G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	837;47|37	Hom;G>A	2075;1|73
N	N	-	19	39905903	39905903	A	G	snp	intronic	 	 	 	 	PLEKHG2	Plekhg2	ENSG00000090924	pleckstrin homology and RhoGEF domain containing G2	chr19:39903225-39919054		coronary spastic angina	 	G alpha (12/13) signalling events	GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2	https://www.uniprot.org/uniprot/Q9H7P9	https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611893	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2	rs3859551	0.179712	0.1958	0.2609	1	0	0	intronic	intronic	intronic	PLEKHG2	PLEKHG2	ENSG00000090924	Na	Na	Na	Na	Na	Na	Het;A>G	1532;75|71	Hom;A>G	5026;0|172
N	N	-	19	39906985	39906985	T	C	snp	intronic	 	 	 	 	PLEKHG2	Plekhg2	ENSG00000090924	pleckstrin homology and RhoGEF domain containing G2	chr19:39903225-39919054		coronary spastic angina	 	G alpha (12/13) signalling events	GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2	https://www.uniprot.org/uniprot/Q9H7P9	https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611893	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2	rs10401595	0.176318	0.1934	0.1888	1	0	0	intronic	intronic	intronic	PLEKHG2	PLEKHG2	ENSG00000090924	Na	Na	Na	Na	Na	Na	Het;T>C	541;29|27	Hom;T>C	581;0|22
N	N	-	19	39907036	39907036	C	T	snp	synonymous SNV	C351T	A117A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PLEKHG2	Plekhg2	ENSG00000090924	pleckstrin homology and RhoGEF domain containing G2	chr19:39903225-39919054		coronary spastic angina	 	G alpha (12/13) signalling events	GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2	https://www.uniprot.org/uniprot/Q9H7P9	https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611893	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2	rs2277743	0.176318	0.1930	0.1884	1	0	0	exonic	exonic	exonic	PLEKHG2	PLEKHG2	ENSG00000090924	synonymous SNV	synonymous SNV	unknown	PLEKHG2:NM_022835:exon5:c.C528T:p.A176A,	PLEKHG2:uc010xuy.2:exon5:c.C351T:p.A117A,PLEKHG2:uc002olj.3:exon5:c.C528T:p.A176A,PLEKHG2:uc010xuz.2:exon5:c.C528T:p.A176A,	UNKNOWN	Het;C>T	498;28|23	Hom;C>T	860;0|30
N	N	-	19	39907781	39907781	G	A	snp	intronic	 	 	 	 	PLEKHG2	Plekhg2	ENSG00000090924	pleckstrin homology and RhoGEF domain containing G2	chr19:39903225-39919054		coronary spastic angina	 	G alpha (12/13) signalling events	GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2	https://www.uniprot.org/uniprot/Q9H7P9	https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611893	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2	rs10402009	0.222644	0	0	1	0	0	intronic	intronic	intronic	PLEKHG2	PLEKHG2	ENSG00000090924	Na	Na	Na	Na	Na	Na	Het;G>A	88;4|4	Hom;G>A	185;0|7
N	N	-	19	39908574	39908574	C	T	snp	synonymous SNV	C333T	T111T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PLEKHG2	Plekhg2	ENSG00000090924	pleckstrin homology and RhoGEF domain containing G2	chr19:39903225-39919054		coronary spastic angina	 	G alpha (12/13) signalling events	GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2	https://www.uniprot.org/uniprot/Q9H7P9	https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611893	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2	rs35466645	0.157348	0.1554	0.2254	1	0	0	exonic	exonic	exonic	PLEKHG2	PLEKHG2	ENSG00000090924	synonymous SNV	synonymous SNV	unknown	PLEKHG2:NM_022835:exon9:c.C912T:p.T304T,	PLEKHG2:uc010xva.2:exon7:c.C333T:p.T111T,PLEKHG2:uc010xuy.2:exon9:c.C735T:p.T245T,PLEKHG2:uc002olj.3:exon9:c.C912T:p.T304T,PLEKHG2:uc010xuz.2:exon9:c.C912T:p.T304T,	UNKNOWN	Het;C>T	632;61|35	Hom;C>T	2206;0|77
N	N	-	19	40023308	40023308	A	G	snp	synonymous SNV	T135C	A45A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EID2B	Eid2b	ENSG00000176401	EP300 interacting inhibitor of differentiation 2B	chr19:40021630-40023494			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/EID2B				http://www.informatics.jax.org/searchtool/Search.do?query=EID2B&submit=Quick%0D%13852ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EID2B	rs1123301	0.801318	0.7790	0.7529	1	0	0	exonic	exonic	exonic	EID2B	EID2B	ENSG00000176401	synonymous SNV	synonymous SNV	unknown	EID2B:NM_152361:exon1:c.T135C:p.A45A,	EID2B:uc002olz.1:exon1:c.T135C:p.A45A,	UNKNOWN	Het;A>G	701;36|32	Hom;A>G	1573;0|53
N	N	-	19	40025197	40025197	T	C	snp	ncRNA_exonic	 	 	 	 	TDGF1P7																		rs7246072	0.746206	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	EID2B(dist=1690),EID2(dist=4250)	EID2B(dist=1703),EID2(dist=4250)	ENSG00000269584	Na	Na	Na	Na	Na	Na	Het;T>C	403;20|18	Hom;T>C	1256;0|44
N	N	-	19	40030704	40030704	C	T	snp	nonsynonymous SNV	G16A	A6T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	EID2	Eid2	ENSG00000176396	EP300 interacting inhibitor of differentiation 2	chr19:40028890-40030870			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007181;transforming growth factor beta receptor complex assembly;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042127;regulation of cell proliferation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EID2			https://www.ncbi.nlm.nih.gov/omim/?term=609773	http://www.informatics.jax.org/searchtool/Search.do?query=EID2&submit=Quick%0D%13850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EID2	rs7252027	0.198682	0.1658	0.2465	0.33	4	12	exonic	exonic	exonic	EID2	EID2	ENSG00000176396	nonsynonymous SNV	nonsynonymous SNV	unknown	EID2:NM_153232:exon1:c.G16A:p.A6T,	EID2:uc002oma.3:exon1:c.G16A:p.A6T,	UNKNOWN	Het;C>T	647;50|36	Hom;C>T	2170;0|84
N	N	-	19	40074703	40074703	C	T	snp	ncRNA_exonic	 	 	 	 	AC011500.1																		rs1836012	0.182508	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	EID2(dist=43865),LGALS13(dist=18466)	EID2(dist=43865),LGALS13(dist=18466)	ENSG00000269188	Na	Na	Na	Na	Na	Na	Het;C>T	158;8|9	Hom;C>T	402;0|15
N	N	-	19	40093111	40093111	C	A	snp	upstream	 	 	 	 	LGALS13		ENSG00000105198	galectin 13	chr19:40093164-40098116	Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008]	preterm labour			GO:0006644;phospholipid metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0070234;positive regulation of T cell apoptotic process;IEA		GO:0004622;lysophospholipase activity;TAS|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LGALS13	https://www.uniprot.org/uniprot/Q9UHV8		https://www.ncbi.nlm.nih.gov/omim/?term=608717	http://www.informatics.jax.org/searchtool/Search.do?query=LGALS13&submit=Quick%0D%3248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS13	rs3764843	0.751597	0	0	1	0	0	upstream	upstream	upstream	LGALS13	LGALS13	ENSG00000105198	Na	Na	Na	Na	Na	Na	Het;C>A	451;14|20	Hom;C>A	579;0|21
N	N	-	19	4013322	4013322	T	C	snp	synonymous SNV	T429C	D143D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PIAS4	Pias4	ENSG00000105229	protein inhibitor of activated STAT 4	chr19:4007644-4039384			Homozygous null mutants display mild postnatal lethality or a normal phenotype depending on strain background.	G2/M DNA damage checkpoint	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016925;protein sumoylation;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:1902174;positive regulation of keratinocyte apoptotic process;IEA|GO:1902231;positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IEA|GO:1990234;transferase complex;IEA	GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0019789;SUMO transferase activity;IMP|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061665;SUMO ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PIAS4	https://www.uniprot.org/uniprot/Q8N2W9		https://www.ncbi.nlm.nih.gov/omim/?term=605989	http://www.informatics.jax.org/searchtool/Search.do?query=PIAS4&submit=Quick%0D%3257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIAS4	rs2289865	0.28734	0.3516	0.2979	1	0	0	exonic	exonic	exonic	PIAS4	PIAS4	ENSG00000105229	synonymous SNV	synonymous SNV	unknown	PIAS4:NM_015897:exon2:c.T429C:p.D143D,	PIAS4:uc002lzg.3:exon2:c.T429C:p.D143D,	UNKNOWN	Het;T>C	1314;56|62	Hom;T>C	2809;1|102
N	N	-	19	4033718	4033718	C	T	snp	intronic	 	 	 	 	PIAS4	Pias4	ENSG00000105229	protein inhibitor of activated STAT 4	chr19:4007644-4039384			Homozygous null mutants display mild postnatal lethality or a normal phenotype depending on strain background.	G2/M DNA damage checkpoint	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016925;protein sumoylation;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:1902174;positive regulation of keratinocyte apoptotic process;IEA|GO:1902231;positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IEA|GO:1990234;transferase complex;IEA	GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0019789;SUMO transferase activity;IMP|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061665;SUMO ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PIAS4	https://www.uniprot.org/uniprot/Q8N2W9		https://www.ncbi.nlm.nih.gov/omim/?term=605989	http://www.informatics.jax.org/searchtool/Search.do?query=PIAS4&submit=Quick%0D%3257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIAS4	rs1545347	0.622204	0	0	1	0	0	intronic	intronic	intronic	PIAS4	PIAS4	ENSG00000105229	Na	Na	Na	Na	Na	Na	Het;C>T	443;7|15	Hom;C>T	335;1|13
N	N	-	19	40711333	40711333	A	G	snp	intronic	 	 	 	 	MAP3K10	Map3k10	ENSG00000130758	mitogen-activated protein kinase kinase kinase 10	chr19:40697651-40721482	The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele exhibit normal development, reproduction and lifespan.		GO:0000165;MAPK cascade;IEA|GO:0000186;activation of MAPKK activity;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;TAS|GO:0007224;smoothened signaling pathway;IMP|GO:0007254;JNK cascade;TAS|GO:0007256;activation of JNKK activity;IEA|GO:0007257;activation of JUN kinase activity;ISS|GO:0008219;cell death;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;ISS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004706;JUN kinase kinase kinase activity;IBA|GO:0004709;MAP kinase kinase kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0043425;bHLH transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP3K10	https://www.uniprot.org/uniprot/Q02779		https://www.ncbi.nlm.nih.gov/omim/?term=600137	http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K10&submit=Quick%0D%6436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K10	rs892117	0.408147	0	0	1	0	0	intronic	intronic	intronic	MAP3K10	MAP3K10	ENSG00000130758	Na	Na	Na	Na	Na	Na	Het;A>G	101;6|4	Hom;A>G	232;0|8
N	N	-	19	40719076	40719076	T	C	snp	synonymous SNV	T1818C	F606F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	MAP3K10	Map3k10	ENSG00000130758	mitogen-activated protein kinase kinase kinase 10	chr19:40697651-40721482	The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele exhibit normal development, reproduction and lifespan.		GO:0000165;MAPK cascade;IEA|GO:0000186;activation of MAPKK activity;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;TAS|GO:0007224;smoothened signaling pathway;IMP|GO:0007254;JNK cascade;TAS|GO:0007256;activation of JNKK activity;IEA|GO:0007257;activation of JUN kinase activity;ISS|GO:0008219;cell death;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;ISS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004706;JUN kinase kinase kinase activity;IBA|GO:0004709;MAP kinase kinase kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0043425;bHLH transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP3K10	https://www.uniprot.org/uniprot/Q02779		https://www.ncbi.nlm.nih.gov/omim/?term=600137	http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K10&submit=Quick%0D%6436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K10	rs1129156	0.757188	0.7517	0.7450	1	0	0	exonic	exonic	exonic	MAP3K10	MAP3K10	ENSG00000130758	synonymous SNV	synonymous SNV	unknown	MAP3K10:NM_002446:exon8:c.T1818C:p.F606F,	MAP3K10:uc002ona.3:exon8:c.T1818C:p.F606F,	UNKNOWN	Het;T>C	881;77|43	Hom;T>C	2717;0|97
N	N	-	19	40719410	40719410	C	T	snp	intronic	 	 	 	 	MAP3K10	Map3k10	ENSG00000130758	mitogen-activated protein kinase kinase kinase 10	chr19:40697651-40721482	The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele exhibit normal development, reproduction and lifespan.		GO:0000165;MAPK cascade;IEA|GO:0000186;activation of MAPKK activity;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;TAS|GO:0007224;smoothened signaling pathway;IMP|GO:0007254;JNK cascade;TAS|GO:0007256;activation of JNKK activity;IEA|GO:0007257;activation of JUN kinase activity;ISS|GO:0008219;cell death;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;ISS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004706;JUN kinase kinase kinase activity;IBA|GO:0004709;MAP kinase kinase kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0043425;bHLH transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP3K10	https://www.uniprot.org/uniprot/Q02779		https://www.ncbi.nlm.nih.gov/omim/?term=600137	http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K10&submit=Quick%0D%6436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K10	rs3746006	0.284744	0.2243	0.3270	1	0	0	intronic	intronic	intronic	MAP3K10	MAP3K10	ENSG00000130758	Na	Na	Na	Na	Na	Na	Het;C>T	554;28|28	Hom;C>T	1212;0|46
N	N	-	19	40720079	40720079	C	T	snp	synonymous SNV	C2493T	D831D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MAP3K10	Map3k10	ENSG00000130758	mitogen-activated protein kinase kinase kinase 10	chr19:40697651-40721482	The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele exhibit normal development, reproduction and lifespan.		GO:0000165;MAPK cascade;IEA|GO:0000186;activation of MAPKK activity;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;TAS|GO:0007224;smoothened signaling pathway;IMP|GO:0007254;JNK cascade;TAS|GO:0007256;activation of JNKK activity;IEA|GO:0007257;activation of JUN kinase activity;ISS|GO:0008219;cell death;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;ISS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004706;JUN kinase kinase kinase activity;IBA|GO:0004709;MAP kinase kinase kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0043425;bHLH transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP3K10	https://www.uniprot.org/uniprot/Q02779		https://www.ncbi.nlm.nih.gov/omim/?term=600137	http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K10&submit=Quick%0D%6436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K10	rs3746005	0.749601	0.8096	0.7945	1	0	0	exonic	exonic	exonic	MAP3K10	MAP3K10	ENSG00000130758	synonymous SNV	synonymous SNV	unknown	MAP3K10:NM_002446:exon9:c.C2493T:p.D831D,	MAP3K10:uc002ona.3:exon9:c.C2493T:p.D831D,	UNKNOWN	Het;C>T	395;12|19	Hom;C>T	1751;0|66
N	N	-	19	40722927	40722927	T	C	snp	intronic	 	 	 	 	TTC9B	Ttc9b	ENSG00000174521	tetratricopeptide repeat domain 9B	chr19:40721965-40724306			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TTC9B				http://www.informatics.jax.org/searchtool/Search.do?query=TTC9B&submit=Quick%0D%13539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC9B	rs55710849	0.408946	0	0	1	0	0	intronic	intronic	intronic	TTC9B	TTC9B	ENSG00000174521	Na	Na	Na	Na	Na	Na	Het;T>C	40;2|2	Hom;T>C	185;0|6
N	N	-	19	4081638	4081638	T	C	snp	intergenic	 	 	 	 	ZBTB7A	Zbtb7a	ENSG00000178951	zinc finger and BTB domain containing 7A	chr19:4044362-4066943			Mice homozygous for a knock-out allele die around E16.5 due to anemia and exhibit a cell autonomous defect in early B cell development.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;ISS	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035035;histone acetyltransferase binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB7A			https://www.ncbi.nlm.nih.gov/omim/?term=605878	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB7A&submit=Quick%0D%14259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB7A	rs12459969	0.591254	0	0	1	0	0	intergenic	intergenic	intergenic	ZBTB7A(dist=14822),MAP2K2(dist=8682)	ZBTB7A(dist=14822),MAP2K2(dist=8682)	ENSG00000178951(dist=14695),ENSG00000126934(dist=8681)	Na	Na	Na	Na	Na	Na	Het;T>C	93;1|5	Hom;T>C	112;0|5
N	N	-	19	4102449	4102449	G	A	snp	synonymous SNV	C453T	D151D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MAP2K2	Map2k2	ENSG00000126934	mitogen-activated protein kinase kinase 2	chr19:4090319-4124126	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]	Abnormalities, Multiple|Ectodermal Dysplasia|Heart Defects, Congenital|Mental Retardation|Syndrome; Glioma|Noonan Syndrome|Turner's phenotype, karyotype normal; Abnormalities, Multiple|Heart Defects, Congenital|LEOPARD Syndrome|Noonan Syndrome|Skin Abnormalities; Bone Mineral Density	Homozygotes for a targeted null mutation are viable, fertile, and apparently normal.	Paradoxical activation of RAF signaling by kinase inactive BRAF	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0010629;negative regulation of gene expression;IGI|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032872;regulation of stress-activated MAPK cascade;TAS|GO:0035897;proteolysis in other organism;TAS|GO:0036289;peptidyl-serine autophosphorylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0070371;ERK1 and ERK2 cascade;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0090170;regulation of Golgi inheritance;TAS|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000641;regulation of early endosome to late endosome transport;TAS	GO:0005576;extracellular region;NAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005769;early endosome;TAS|GO:0005770;late endosome;TAS|GO:0005778;peroxisomal membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030165;PDZ domain binding;IDA|GO:0043539;protein serine/threonine kinase activator activity;IDA|GO:0046872;metal ion binding;IEA|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAP2K2	https://www.uniprot.org/uniprot/P36507	https://hpo.jax.org/app/browse/search?q=MAP2K2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601263	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K2&submit=Quick%0D%5993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K2	rs17851657	0.111222	0.1428	0.2315	1	0	0	exonic	exonic	exonic	MAP2K2	MAP2K2	ENSG00000126934	synonymous SNV	synonymous SNV	unknown	MAP2K2:NM_030662:exon4:c.C453T:p.D151D,	MAP2K2:uc002lzk.3:exon4:c.C453T:p.D151D,	UNKNOWN	Het;G>A	1951;91|99	Hom;G>A	4484;0|172
N	N	-	19	41173892	41173898	CTGCTGT	C	indel	nonframeshift substitution	1302_1308G	 	 	 	NUMBL	Numbl	ENSG00000105245	NUMB like, endocytic adaptor protein	chr19:41172596-41196877		schizophrenia; Glioma|Nervous System Neoplasms	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypes except for a reduction in female fertility.		GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007405;neuroblast proliferation;IEA|GO:0007409;axonogenesis;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0019538;protein metabolic process;IDA|GO:0021670;lateral ventricle development;IEA|GO:0021849;neuroblast division in subventricular zone;IEA|GO:0030900;forebrain development;IEA|GO:0034332;adherens junction organization;IEA|GO:0050769;positive regulation of neurogenesis;IEA	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NUMBL	https://www.uniprot.org/uniprot/Q9Y6R0		https://www.ncbi.nlm.nih.gov/omim/?term=604018	http://www.informatics.jax.org/searchtool/Search.do?query=NUMBL&submit=Quick%0D%3258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUMBL	rs141662737	0.570288	0.6517	0.6447	1	0	0	exonic	exonic	exonic	NUMBL	NUMBL	ENSG00000105245	nonframeshift substitution	nonframeshift substitution	unknown	NUMBL:NM_001289980:exon9:c.1182_1188G,NUMBL:NM_001289979:exon9:c.1182_1188G,NUMBL:NM_004756:exon10:c.1305_1311G,	NUMBL:uc002ooo.3:exon10:c.1302_1308G,NUMBL:uc010xvr.2:exon9:c.1182_1188G,NUMBL:uc002oon.3:exon10:c.1305_1311G,NUMBL:uc010xvq.2:exon9:c.1182_1188G,	UNKNOWN	Het;-TGCTGT	1725;7|44	Hom;-TGCTGT	2647;4|70
N	N	-	19	41622189	41622189	G	A	snp	synonymous SNV	G96A	P32P	hydrophobic,neutral	hydrophobic,neutral	CYP2F1	Cyp2f2	ENSG00000197446	cytochrome P450 family 2 subfamily F member 1	chr19:41620337-41634271	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	Pulmonary Disease, Chronic Obstructive; lung cancer; Lung Neoplasms; Chronic renal failure|Kidney Failure, Chronic; nasopharyngeal cancer; drug-related genes 	Mice homozygous for a knock-out allele exhibit resistance to napthalene-induced toxicity in the lungs.	CYP2E1 reactions	GO:0006805;xenobiotic metabolic process;TAS|GO:0009636;response to toxic substance;IEA|GO:0018931;naphthalene metabolic process;IDA|GO:0018979;trichloroethylene metabolic process;IEA|GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2F1			https://www.ncbi.nlm.nih.gov/omim/?term=124070	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2F1&submit=Quick%0D%16629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2F1	rs305968	0.414137	0.3865	0.3561	1	0	0	exonic	exonic	exonic	CYP2F1	CYP2F1	ENSG00000197446	synonymous SNV	synonymous SNV	unknown	CYP2F1:NM_000774:exon2:c.G96A:p.P32P,	CYP2F1:uc010xvv.1:exon2:c.G96A:p.P32P,CYP2F1:uc002opu.1:exon2:c.G96A:p.P32P,	UNKNOWN	Het;G>A	1165;58|56	Hom;G>A	2623;0|99
N	N	-	19	41627868	41627868	G	A	snp	nonsynonymous SNV	G652A	D218N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	CYP2F1	Cyp2f2	ENSG00000197446	cytochrome P450 family 2 subfamily F member 1	chr19:41620337-41634271	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	Pulmonary Disease, Chronic Obstructive; lung cancer; Lung Neoplasms; Chronic renal failure|Kidney Failure, Chronic; nasopharyngeal cancer; drug-related genes 	Mice homozygous for a knock-out allele exhibit resistance to napthalene-induced toxicity in the lungs.	CYP2E1 reactions	GO:0006805;xenobiotic metabolic process;TAS|GO:0009636;response to toxic substance;IEA|GO:0018931;naphthalene metabolic process;IDA|GO:0018979;trichloroethylene metabolic process;IEA|GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2F1			https://www.ncbi.nlm.nih.gov/omim/?term=124070	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2F1&submit=Quick%0D%16629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2F1	rs305974	0.396765	0.3653	0.3453	0.15	2	13	exonic	exonic	exonic	CYP2F1	CYP2F1	ENSG00000197446	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2F1:NM_000774:exon6:c.G652A:p.D218N,	CYP2F1:uc010xvv.1:exon6:c.G652A:p.D218N,CYP2F1:uc002opu.1:exon6:c.G652A:p.D218N,CYP2F1:uc021uuv.1:exon3:c.G10A:p.D4N,	UNKNOWN	Het;G>A	579;44|32	Hom;G>A	1768;2|69
N	N	-	19	41634151	41634151	G	A	snp	UTR3	*619G>A	 	 	 	CYP2F1	Cyp2f2	ENSG00000197446	cytochrome P450 family 2 subfamily F member 1	chr19:41620337-41634271	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	Pulmonary Disease, Chronic Obstructive; lung cancer; Lung Neoplasms; Chronic renal failure|Kidney Failure, Chronic; nasopharyngeal cancer; drug-related genes 	Mice homozygous for a knock-out allele exhibit resistance to napthalene-induced toxicity in the lungs.	CYP2E1 reactions	GO:0006805;xenobiotic metabolic process;TAS|GO:0009636;response to toxic substance;IEA|GO:0018931;naphthalene metabolic process;IDA|GO:0018979;trichloroethylene metabolic process;IEA|GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2F1			https://www.ncbi.nlm.nih.gov/omim/?term=124070	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2F1&submit=Quick%0D%16629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2F1	rs3920	0.385982	0	0	1	0	0	UTR3	UTR3	UTR3	CYP2F1(NM_000774:c.*164G>A)	CYP2F1(uc002opu.1:c.*164G>A)	ENSG00000197446(ENST00000532164:c.*619G>A,ENST00000331105:c.*164G>A,ENST00000439903:c.*346G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1650;137|82	Hom;G>A	2994;1|116
N	N	-	19	41641592	41641592	A	G	snp	upstream	 	 	 	 	DQ590318																		rs35279446	0.206669	0	0	1	0	0	intergenic	upstream	ncRNA_intronic	CYP2F1(dist=7311),CYP2S1(dist=57520)	DQ590318	ENSG00000268529	Na	Na	Na	Na	Na	Na	Het;A>G	303;13|14	Hom;A>G	687;1|23
N	N	-	19	41642079	41642079	A	G	snp	downstream	 	 	 	 	DQ590318																		rs11673184	0.846845	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	CYP2F1(dist=7798),CYP2S1(dist=57033)	DQ590318	ENSG00000268529	Na	Na	Na	Na	Na	Na	Het;A>G	2196;4|54	Hom;A>G	2449;1|57
N	N	-	19	41642083	41642083	G	A	snp	downstream	 	 	 	 	DQ590318																		rs11673296	0.861621	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	CYP2F1(dist=7802),CYP2S1(dist=57029)	DQ590318	ENSG00000268529	Na	Na	Na	Na	Na	Na	Het;G>A	2218;4|54	Hom;G>A	2481;1|54
N	N	-	19	41642102	41642102	A	T	snp	downstream	 	 	 	 	DQ590318																		rs11673210	0.788938	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	CYP2F1(dist=7821),CYP2S1(dist=57010)	DQ590318	ENSG00000268529	Na	Na	Na	Na	Na	Na	Het;A>T	2042;6|48	Hom;A>T	1831;0|42
N	N	-	19	41642104	41642104	T	G	snp	downstream	 	 	 	 	DQ590318																		rs11669418	0.788938	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	CYP2F1(dist=7823),CYP2S1(dist=57008)	DQ590318	ENSG00000268529	Na	Na	Na	Na	Na	Na	Het;T>G	2042;6|49	Hom;T>G	1872;0|41
N	N	-	19	41642111	41642111	C	G	snp	downstream	 	 	 	 	DQ590318																		rs111555210	0.316494	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	CYP2F1(dist=7830),CYP2S1(dist=57001)	DQ590318	ENSG00000268529	Na	Na	Na	Na	Na	Na	Het;C>G	381;38|19	Hom;C>G	1847;0|42
N	N	-	19	41642880	41642880	G	A	snp	downstream	 	 	 	 	DQ590318																		rs7247759	0.0928514	0	0	1	0	0	intergenic	downstream	ncRNA_intronic	CYP2F1(dist=8599),CYP2S1(dist=56232)	DQ590318	ENSG00000268529	Na	Na	Na	Na	Na	Na	Het;G>A	90;10|6	Hom;G>A	279;0|11
N	N	-	19	41854035	41854036	CA	C	indel	intronic	 	 	 	 	TGFB1	Tgfb1	ENSG00000105329	transforming growth factor beta 1	chr19:41807492-41859816	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]	cardiovascular; Camurati-Engelmann disease; aging; preeclampsia; Pre-eclampsia; paediatric renal allograft; lung cancer; Pulmonary Fibrosis; prostate cancer; polycystic kidney disease; Hyperparathyroidism, Secondary; Gestational trophoblastic neoplasms; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Carcinoma, Squamous Cell|Esophageal Neoplasms; Epstein-Barr Virus Infections|Hematologic Diseases; Hepatitis C, Chronic|Viremia; bone mineral density; Scleroderma, Systemic|Systemic Scleroderma; Abortion, Habitual; Glomerulonephritis, IGA|Kidney Failure, Chronic; Mucocutaneous Lymph Node Syndrome; Osteoporosis|Spinal Fractures; Respiratory Hypersensitivity; allograft dysfunction, renal; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; cardiomyopathy; heart anomalies, congenital; Hypertension, Pulmonary; Angioedema|Drug Hypersensitivity|Urticaria; Tracheal Stenosis; Dupuytren's Contracture; Adenocarcinoma|Colorectal Neoplasms; Total IgE; atopic dermatitis; very low bone mass; hepatitis B; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; esophageal cancer ; Multiple System Atrophy; Adenoma|Colorectal Neoplasms; obesity; Sjogren's syndrome; Osteoporosis; Cystic Fibrosis|Urogenital Abnormalities; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Food Hypersensitivity; Gingival Overgrowth; asthma; renal allograft rejection; Chronic renal failure|Fibrosis|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Kidney Failure, Chronic; Hepatopulmonary Syndrome|Liver Cirrhosis; Cardiovascular Diseases|Death; BMI; Carcinoma, Squamous Cell|Cervical Neoplasm|Neoplasm Invasiveness|Squamous cell carcinoma|Uterine Cervical Neoplasms; Asthma|; Graves disease; Fibrosis|Neoplasms|Radiation Injuries; chronic idiopathic neutropenia; early onset ischemic heart disease.; diabetes, type 1; hepatitis C; kidney graft survival; Osteolysis|Prosthesis Failure; Hepatitis C|HIV Infections; Leprosy; Adenomatous Polyps|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Urticaria; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; HCV-induced liver fibrosis; radiation-induced damage to normal tissues; left ventricular hypertrophy; interstitial lung diseases; Asbestosis|Lung Neoplasms|Mesothelioma|Silicosis; Albuminuria|Hypertension; Paraproteinemias; Type 2 diabetes; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Pemphigus; Apoplexy|Brain Ischemia|Dementia, Vascular|Stroke; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Berylliosis|Sarcoidosis; coronary artery disease; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; Kidney Failure, Chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Kidney Failure|kidney; failure|Renal Insufficiency; Inflammation|Venous Thromboembolism; rheumatic heart disease; Apoplexy|Myocardial Infarction|Stroke; lymphoproliferative disorders, post-transplant; kidney failure, chronic polycystic kidney disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; retinopathy of prematurity; graft-vs-host disease; ossification of the posterior longitudinal ligament; proliferative vitreoretinopathy rhegmatogenous retinal detachment; preterm delivery; Stomach Neoplasms; Asthma|Constriction, Pathologic|; Sarcoidosis|Tuberculosis, Pulmonary; Cicatrization|Kidney Diseases|Vesico-Ureteral Reflux|Vesicoureteral reflux; Autoimmune thyroiditis|Graves Disease|Graves' Disease|Hashimoto Disease|Thyroiditis, Autoimmune; increased incidence of invasive breast cancer; ankylosing spondylitis; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Dementia; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; Cleft Lip|Cleft Palate; Glomerulonephritis, IGA|IGA Glomerulonephritides; Glaucoma, Open-Angle; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Albuminuria|Hypertension|Kidney Diseases; brucellosis; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Inflammation|Insulin Resistance|Kidney Diseases; lung transplant complications; chronic lung disease; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; heart transplant complications; Infection|Inflammation|Premature Birth; Myopia; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Glomerulonephritis|Kidney Failure, Chronic; Fibrosis|Hepatitis C, Chronic; B-Cell Lymphomas|Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; pancreatitis; cirrhosis; liver cancer; bladder cancer; Exfoliation Syndrome|Glaucoma, Open-Angle; Irritable Bowel Syndrome; Leptospirosis|Swamp fever; Albuminuria|Inflammation|Kidney Diseases; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; radiotherapy; ovarian cancer ; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Chlamydia Infections|Infertility, Female; Delayed Graft Function|Inflammation; Carcinoma, Squamous Cell|Oropharyngeal Neoplasms|Papillomavirus Infections|Squamous cell carcinoma|Tumor of Oropharynx; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Wegener Granulomatosis; Alzheimer Disease|Alzheimer's Disease|Neurodegenerative Diseases; renal allograft outcome; Silicosis|Tuberculosis, Pulmonary; Myocardial Infarction; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Autoimmune Diseases|Pelvic Pain|Prostatitis|Syndrome; stomach cancer; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Immune System Diseases; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Chronic renal failure|Kidney Failure, Chronic; parvovirus; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; Nephrotic Syndrome; Breast Neoplasms|Mammary Neoplasms; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; duodenal ulcer gastric ulcer; diabetes, type 1 ; Infection|Postoperative Complications; bone density; liver transplant; hepatitis C, chronic; ossification of spine; Hepatitis C; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; cirrhosis; SIDS/sudden infant death syndrome; Thrombosis; Otosclerosis; Brain Ischemia|Inflammation|Stroke; Carcinoma, Hepatocellular|Hepatitis B|LCC - Liver cell carcinoma|Liver neoplasms; Nasopharyngeal Neoplasms|Radiation Pneumonitis; Hepatitis C, Chronic|Liver Cirrhosis; Hepatitis B, Chronic; Penile Induration|Peyronie Disease; Endometriosis; radiotherapy response; dental implants; metabolism disorders; kidney cancer; end-stage heart failure; small for gestational age; juvenile arthritis; sarcoidosis; Coronary Disease|Coronary heart disease|Graft vs Host Disease; Chronic Obstructive Pulmonary Disease; myocardial infarction; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms|Squamous cell carcinoma; kidney transplant complications; leukemia; keloid disease; fibrotic lung disease; Rheumatoid spondylitis|Spondylitis, Ankylosing; Brucellosis; Hepatitis B|Recurrence; Pulmonary Disease, Chronic Obstructive; Aggressive Periodontitis|Periodontitis, Juvenile; prostatic hyperplasia; Glomerulonephritis, IGA; Lupus Erythematosus, Systemic; Coronary Disease; Corneal Dystrophies, Hereditary; Coronary Disease|Coronary heart disease; Chronic renal failure|Kidney Failure, Chronic|Nephritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Liver Cirrhosis|Liver Neoplasms; Asthma|Drug Hypersensitivity|Rhinitis, Allergic, Perennial|Sinusitis; Oral Submucous Fibrosis; Tuberculosis; Colitis, Ulcerative; osteoporosis, postmenopausal; estradiol; Cadaver; allograft rejection, heart; Asthma; desensitization in solid organ transplant recipients ; Coronary Artery Disease|Inflammation; Atrophy|Gastritis|Helicobacter Infections|Precancerous Conditions|Stomach Neoplasms; Chronic renal failure|Hypertension, Renal|Kidney Failure, Chronic|Renal hypertension; Breast Neoplasms|Carcinoma, Ductal|Carcinoma, Lobular|Ductal Carcinoma|Mammary Neoplasms|Neoplasm Recurrence, Local; Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatic neoplasm|Pancreatic Neoplasms; berylliosis; Uterine Cervical Incompetence; G6PD deficiency; Cystic Fibrosis; Myelodysplastic Syndromes|Preleukemia; Dengue Hemorrhagic Fever; Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity|; Emphysema; longevity; bone marrow transplantation; respiratory syncytial virus bronchiolitis; pemphigus vulgaris; Behcet Syndrome|; Osteoporosis, Postmenopausal; Corneal Dystrophies, Hereditary|Hereditary corneal dystrophy; idiopathic pulmonary fibrosis; colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate; Hepatitis B|Hepatitis C|Reperfusion Injury; Hypersensitivity; Chronic Hepatitis C; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Myocardial ischemia|Postoperative Complications|Rheumatic Heart Disease; depression; Eclampsia|Pre-Eclampsia|Syndrome; graft-versus-host disease; periodontitis; Polyarteritis Nodosa|Wegener Granulomatosis; Chronic ulcerative colitis|Colitis, Ulcerative; allergic rhinitis; systemic sclerosis; Idiopathic Dilated Cardiomyopathy; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; Helicobacter Infections|Peptic Ulcer|Stomach Neoplasms; colorectal cancer: association; celiac disease; Multiple Sclerosis, Relapsing-Remitting; Cicatrization|Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatitis, chronic; allograft outcome; Neoplasms; Cystic Fibrosis|Lung Diseases; esophageal adenocarcinoma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Autoimmune Diseases|Gastritis; HIV; Ache, Low Back|Intervertebral Disk Displacement|Spinal Osteophytosis; bronchiolitis obliterans syndrome; chronic obstructive pulmonary disease/COPD; hepatocellular carcinoma; parvovirus B19 infection; Migraine Disorders; Common Variable Immunodeficiency; smoking; Delayed Graft Function; Wounds and Injuries; Heart Valve Diseases|Rheumatic Heart Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Adenocarcinoma|Stomach Neoplasms; Kidney Diseases; Pancreatitis; Anemia, Refractory|Myelodysplastic Syndromes|Preleukemia|Refractory anaemia -RETIRED-; hypodontia; subcutaneous fibrosis; Hepatitis B, Chronic|Liver Cirrhosis; Graft vs Host Disease; Alveolitis, Extrinsic Allergic|Bird Fancier's Lung|Extrinsic allergic alveolitis; Lichen Planus, Oral; patent ductus arteriosus; Multiple Sclerosis; infertility, male; cervical intraepithelial neoplasia grade 3; Inflammation|Myocardial Infarction; Prosthesis Failure; pneumoconiosis; urinary tract infection vesicoureteral reflux; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy; diabetes, type 1 diabetic nephropathy; colorectal cancer; Fatty Liver|Hepatitis C, Chronic|Insulin Resistance; Giardiasis; Albuminuria|Hypertension|Hypertrophy, Left Ventricular; nephropathy; Q fever; melanoma; null; Cystic Fibrosis|; Dengue Hemorrhagic Fever|; cyclosporine ; diabetic nephropathy; Celiac Disease; Renal Insufficiency; Myopia, Degenerative; Abdominal Aortic Aneurysm; Tuberculosis, Pulmonary; blood pressure; nephropathy, IgA; Hepatitis C, Chronic; Breast Neoplasms|Fibrosis|Mammary Neoplasms; autoimmune-associated congenital heart block.; angiopathy, cerebral amyloid dementia, vascular neocortical plaques; Pneumoconiosis; Eclampsia|Pre-Eclampsia; Hepatitis C|Pregnancy Complications, Infectious; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; rheumatoid arthritis; meningioma; cervical cancer; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Psoriasis; multiple sclerosis; liver transplantation, immunosuppression after; Arthritis, Rheumatoid|Hypertension; Graft vs Host Disease|Leukemia; Cicatrix, Hypertrophic|Keloid; Cadaver|Chronic renal failure|Kidney Failure, Chronic; Cystic Fibrosis|Pseudomonas Infections; Hemochromatosis|Liver Cirrhosis; Hepatitis B, Chronic|Hepatitis C, Chronic|Hepatitis, Autoimmune; kidney; failure|Renal Insufficiency; breast cancer; Asthma severity; Bronchopulmonary Dysplasia|; Rhinitis, Allergic, Perennial; Periodontal Diseases|Periodontitis; hypertension; indoleamine-pyrrole 2,3-dioxygenase activity; pulmonary fibrosis sarcoidosis; Brucellosis|; epithelial ovarian cancer ; Intracranial Aneurysm|Stroke; Hepatitis C|Liver Cirrhosis|Liver Cirrhosis, Alcoholic; Cardiovascular Disease; Abortion, Spontaneous; Alzheimer's disease; Cardiovascular Diseases|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Hepatitis C|Recurrence; abdominal aortic aneurysm; renal transplantation, rejection after; Amyotrophic Lateral Sclerosis|Anoxia|; Breast Neoplasms|Carcinoma, Ductal, Breast|Fibrosis|Invasive Ductal Breast Carcinoma|Mammary Neoplasms|Radiation Injuries; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; atherosclerosis; Cervical Neoplasm|Endometrial Neoplasms|Radiation Injuries|Uterine Cervical Neoplasms; breast cancer ; Helicobacter Infections|Stomach Neoplasms; Chlamydia Infections|Inflammation|Trachoma; Hepatitis B|Hepatitis D; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; kidney transplant; testicular cancer; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Liver Neoplasms; Dementia, Vascular|; Liver Cirrhosis, Alcoholic|Liver Diseases, Alcoholic; Arthritis, Rheumatoid|Rheumatoid Arthritis; Periodontitis; graft rejection, liver; oral submucous fibrosis; chronic obstructive pulmonary disease; heart transplant; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Inflammation|Premature Birth; thrombosis; hepatitis B liver disease, chronic and cirrhosis; osteoarthritis; Asthma|Hypersensitivity; COPD | Chronic obstructive Pulmonary Disease; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cellulitis|Obesity; cell-surface B7 expression; cytokine production; prevalent vertebral fractures; Bone Mineral Density; Clonorchiasis|Fibrosis; Kidney Diseases|Postoperative Complications; Atrial Fibrillation|Hypertension; Inflammation; tuberculosis; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; Apoplexy|Stroke; liver graft rejection; Wegener's granulomatosis; graft versus host disease; liver disease; hepatitis C, chronic; heart failure; respiratory syncytial virus; normal variation; Recurrence|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; lung function; Liver Failure; hepatitis C infection; childhood idiopathic thrombocytopenic purpura.; systemic lupus erythematosus; Vesico-Ureteral Reflux; Carcinoma|Colorectal Neoplasms; Fractures, Bone|Osteoporosis|Spinal Fractures; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; vesicoureteral reflux; pregnancy loss, recurrent; liver cancer; advanced-stage endometriosis; Biliary Tract Neoplasms|Inflammation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Hypercholesterolemia|LDLC levels; inflammatory bowel disease; Carotid artery stenosis|Carotid Stenosis; diabetes, type 2; osteoporosis; cardiac transplantation; Atopic asthma; bronchodilator response; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Chagas Disease|; Fatty Liver|Liver Cirrhosis|Obesity, Morbid	Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis.	RUNX3 regulates p14-ARF	GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA|GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0009986;cell surface;IMP|GO:0030141;secretory granule;IEA|GO:0030424;axon;IEA|GO:0031012;extracellular matrix;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0043025;neuronal cell body;IEA|GO:0072562;blood microparticle;IDA	GO:0001948;glycoprotein binding;IPI|GO:0003823;antigen binding;IPI|GO:0005114;type II transforming growth factor beta receptor binding;IMP|GO:0005125;cytokine activity;TAS|GO:0005160;transforming growth factor beta receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019899;enzyme binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IMP|GO:0034714;type III transforming growth factor beta receptor binding;IMP|GO:0042803;protein homodimerization activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGFB1	https://www.uniprot.org/uniprot/P01137	https://hpo.jax.org/app/browse/search?q=TGFB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190180	http://www.informatics.jax.org/searchtool/Search.do?query=TGFB1&submit=Quick%0D%103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFB1	rs11347492	0.571286	0	0	1	0	0	intronic	intronic	intronic	TGFB1	TGFB1	ENSG00000105329	Na	Na	Na	Na	Na	Na	Het;-A	98;1|4	Hom;-A	162;0|5
N	N	-	19	4199839	4199839	A	C	snp	intronic	 	 	 	 	ANKRD24	Ankrd24	ENSG00000089847	ankyrin repeat domain 24	chr19:4183351-4224811			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24	https://www.uniprot.org/uniprot/Q8TF21			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24	rs6510793	0.539537	0.6356	0.5568	1	0	0	intronic	intronic	intronic	ANKRD24	ANKRD24	ENSG00000089847	Na	Na	Na	Na	Na	Na	Het;A>C	408;22|17	Hom;A>C	1454;0|50
N	N	-	19	4210401	4210401	C	CA	indel	intronic	 	 	 	 	ANKRD24	Ankrd24	ENSG00000089847	ankyrin repeat domain 24	chr19:4183351-4224811			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24	https://www.uniprot.org/uniprot/Q8TF21			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24	rs397942985	0.726837	0.7498	0.7541	1	0	0	intronic	intronic	intronic	ANKRD24	ANKRD24	ENSG00000089847	Na	Na	Na	Na	Na	Na	Het;+A	2115;51|56	Hom;+A	4000;0|100
N	N	-	19	4210465	4210465	A	G	snp	intronic	 	 	 	 	ANKRD24	Ankrd24	ENSG00000089847	ankyrin repeat domain 24	chr19:4183351-4224811			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24	https://www.uniprot.org/uniprot/Q8TF21			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24	rs12710072	0.726637	0	0	1	0	0	intronic	intronic	intronic	ANKRD24	ANKRD24	ENSG00000089847	Na	Na	Na	Na	Na	Na	Het;A>G	346;19|15	Hom;A>G	1259;0|42
N	N	-	19	4212808	4212808	C	A	snp	intronic	 	 	 	 	ANKRD24	Ankrd24	ENSG00000089847	ankyrin repeat domain 24	chr19:4183351-4224811			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24	https://www.uniprot.org/uniprot/Q8TF21			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24	rs58559746	0.409744	0	0	1	0	0	intronic	intronic	intronic	ANKRD24	ANKRD24	ENSG00000089847	Na	Na	Na	Na	Na	Na	Het;C>A	225;1|9	Hom;C>A	125;0|5
N	N	-	19	4216910	4216910	G	A	snp	nonsynonymous SNV	G1753A	E585K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ANKRD24	Ankrd24	ENSG00000089847	ankyrin repeat domain 24	chr19:4183351-4224811			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24	https://www.uniprot.org/uniprot/Q8TF21			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24	rs10413818	0.711661	0.7238	0.7513	0.08	1	13	exonic	exonic	exonic	ANKRD24	ANKRD24	ENSG00000089847	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD24:NM_133475:exon18:c.G1753A:p.E585K,	ANKRD24:uc010dtt.1:exon18:c.G1753A:p.E585K,ANKRD24:uc002lzs.2:exon16:c.G1666A:p.E556K,ANKRD24:uc002lzt.2:exon16:c.G1669A:p.E557K,	UNKNOWN	Het;G>A	1731;61|75	Hom;G>A	3836;0|147
N	N	-	19	422033	422075	TGAGACCCTCCCACCTGTGCCCAGCGAAGCCCCTGGATGCCCC	T	indel	intronic	 	 	 	 	SHC2	Shc2	ENSG00000129946	SHC adaptor protein 2	chr19:416583-460996			Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007265;Ras protein signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA	GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SHC2	https://www.uniprot.org/uniprot/P98077		https://www.ncbi.nlm.nih.gov/omim/?term=605217	http://www.informatics.jax.org/searchtool/Search.do?query=SHC2&submit=Quick%0D%6295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC2	rs56062026	0	0	0	1	0	0	intronic	intronic	intronic	SHC2	SHC2	ENSG00000129946	Na	Na	Na	Na	Na	Na	Het;-GAGACCCTCCCACCTGTGCCCAGCGAAGCCCCTGGATGCCCC	39;3|2	Hom;-GAGACCCTCCCACCTGTGCCCAGCGAAGCCCCTGGATGCCCC	235;0|6
N	N	-	19	422534	422534	G	A	snp	intronic	 	 	 	 	SHC2	Shc2	ENSG00000129946	SHC adaptor protein 2	chr19:416583-460996			Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007265;Ras protein signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA	GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SHC2	https://www.uniprot.org/uniprot/P98077		https://www.ncbi.nlm.nih.gov/omim/?term=605217	http://www.informatics.jax.org/searchtool/Search.do?query=SHC2&submit=Quick%0D%6295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC2	rs12984753	0.46246	0	0	1	0	0	intronic	intronic	intronic	SHC2	SHC2	ENSG00000129946	Na	Na	Na	Na	Na	Na	Het;G>A	292;13|9	Hom;G>A	692;0|17
N	N	-	19	422543	422543	G	A	snp	intronic	 	 	 	 	SHC2	Shc2	ENSG00000129946	SHC adaptor protein 2	chr19:416583-460996			Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007265;Ras protein signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA	GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SHC2	https://www.uniprot.org/uniprot/P98077		https://www.ncbi.nlm.nih.gov/omim/?term=605217	http://www.informatics.jax.org/searchtool/Search.do?query=SHC2&submit=Quick%0D%6295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC2	rs2287958	0.673123	0	0	1	0	0	intronic	intronic	intronic	SHC2	SHC2	ENSG00000129946	Na	Na	Na	Na	Na	Na	Het;G>A	227;13|7	Hom;G>A	582;0|13
N	N	-	19	422555	422555	G	A	snp	intronic	 	 	 	 	SHC2	Shc2	ENSG00000129946	SHC adaptor protein 2	chr19:416583-460996			Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007265;Ras protein signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA	GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SHC2	https://www.uniprot.org/uniprot/P98077		https://www.ncbi.nlm.nih.gov/omim/?term=605217	http://www.informatics.jax.org/searchtool/Search.do?query=SHC2&submit=Quick%0D%6295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC2	rs2287957	0.674521	0	0	1	0	0	intronic	intronic	intronic	SHC2	SHC2	ENSG00000129946	Na	Na	Na	Na	Na	Na	Het;G>A	94;10|6	Hom;G>A	116;0|6
N	N	-	19	42373893	42373893	C	T	snp	intronic	 	 	 	 	RPS19	Rps19	ENSG00000105372	ribosomal protein S19	chr19:42363988-42376994	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]	null; Anemia, Diamond-Blackfan|Diamond-Blackfan anemia; Type 2 Diabetes| edema | rosiglitazone; Multiple Myeloma; benzene haematotoxicity	Homozygous null embryos die prior to the formation of a blastocyst. Mice heterozygous for some point mutations show pigment defects affecting the feet and tail.	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000028;ribosomal small subunit assembly;IMP|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IMP|GO:0002548;monocyte chemotaxis;IDA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0007000;nucleolus organization;IMP|GO:0007219;Notch signaling pathway;IEA|GO:0009991;response to extracellular stimulus;TAS|GO:0019083;viral transcription;TAS|GO:0030218;erythrocyte differentiation;IMP|GO:0030490;maturation of SSU-rRNA;IMP|GO:0042274;ribosomal small subunit biogenesis;IMP|GO:0051262;protein tetramerization;IDA|GO:0051272;positive regulation of cellular component movement;TAS|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IDA|GO:0060266;negative regulation of respiratory burst involved in inflammatory response;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IDA|GO:0005515;protein binding;IPI|GO:0017134;fibroblast growth factor binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPS19	https://www.uniprot.org/uniprot/P39019	https://hpo.jax.org/app/browse/search?q=RPS19&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603474	http://www.informatics.jax.org/searchtool/Search.do?query=RPS19&submit=Quick%0D%3287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS19	rs2075751	0.759185	0.7398	0	1	0	0	intronic	intronic	intronic	RPS19	RPS19	ENSG00000105372	Na	Na	Na	Na	Na	Na	Het;C>T	855;37|39	Hom;C>T	1602;0|57
N	N	-	19	42497653	42497659	GCACACA	G	indel	intronic	 	 	 	 	ATP1A3	Atp1a3	ENSG00000105409	ATPase Na+/K+ transporting subunit alpha 3	chr19:42470734-42501649	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	Bipolar Disorder; bipolar disorder	Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning.  Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0007613;memory;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0008542;visual learning;IEA|GO:0010107;potassium ion import;IDA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030007;cellular potassium ion homeostasis;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0036376;sodium ion export from cell;IDA|GO:0042493;response to drug;IEA|GO:0060048;cardiac muscle contraction;IEA|GO:0060075;regulation of resting membrane potential;TAS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071383;cellular response to steroid hormone stimulus;NAS|GO:0086036;regulation of cardiac muscle cell membrane potential;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0097067;cellular response to thyroid hormone stimulus;IEA|GO:1903416;response to glycoside;NAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005890;sodium:potassium-exchanging ATPase complex;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IDA|GO:0032809;neuronal cell body membrane;IC|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IDA|GO:0043209;myelin sheath;IEA|GO:0044326;dendritic spine neck;IEA|GO:0044327;dendritic spine head;IEA|GO:0045202;synapse;ISS|GO:1903561;extracellular vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0001540;beta-amyloid binding;IEA|GO:0005391;sodium:potassium-exchanging ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0031748;D1 dopamine receptor binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI|GO:0086037;sodium:potassium-exchanging ATPase activity involved in regulation of cardiac muscle cell membrane potential;IEA|GO:1990239;steroid hormone binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/ATP1A3	https://www.uniprot.org/uniprot/P13637	https://hpo.jax.org/app/browse/search?q=ATP1A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182350	http://www.informatics.jax.org/searchtool/Search.do?query=ATP1A3&submit=Quick%0D%3301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP1A3	rs71181150	0	0	0	1	0	0	intronic	intronic	intronic	ATP1A3	ATP1A3	ENSG00000105409	Na	Na	Na	Na	Na	Na	Het;-CACACA	101;5|3	Hom;-CACACA	291;0|8
N	N	-	19	4328860	4328860	T	C	snp	intronic	 	 	 	 	STAP2	Stap2	ENSG00000178078	signal transducing adaptor family member 2	chr19:4324040-4342783	This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]	Narcolepsy	Mice homozygous for a knock-out allele are viable and fertile and display no apparent abnormalities in most organs at the gross and histological level.	PTK6 Activates STAT3		GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STAP2			https://www.ncbi.nlm.nih.gov/omim/?term=607881	http://www.informatics.jax.org/searchtool/Search.do?query=STAP2&submit=Quick%0D%14132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAP2	rs11882358	0.613618	0	0	1	0	0	intronic	intronic	intronic	STAP2	STAP2	ENSG00000178078	Na	Na	Na	Na	Na	Na	Het;T>C	538;58|30	Hom;T>C	1762;2|65
N	N	-	19	4352763	4352763	C	T	snp	ncRNA_intronic	 	 	 	 	AC007292.3																		rs11668153	0.648962	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MPND	MPND	ENSG00000269807	Na	Na	Na	Na	Na	Na	Het;C>T	96;7|5	Hom;C>T	125;0|4
N	N	-	19	4352838	4352838	C	G	snp	ncRNA_intronic	 	 	 	 	AC007292.3																		rs11668187	0.191893	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MPND	MPND	ENSG00000269807	Na	Na	Na	Na	Na	Na	Het;C>G	297;21|13	Hom;C>G	668;0|23
N	N	-	19	4352959	4352959	A	G	snp	synonymous SNV	A597G	A199A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MPND	Mpnd	ENSG00000008382	MPN domain containing	chr19:4343524-4360083			 		GO:0006508;proteolysis;IEA		GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MPND	https://www.uniprot.org/uniprot/Q8N594			http://www.informatics.jax.org/searchtool/Search.do?query=MPND&submit=Quick%0D%479ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPND	rs11882587	0.653554	0.5723	0.5842	1	0	0	exonic	exonic	exonic	MPND	MPND	ENSG00000008382	synonymous SNV	synonymous SNV	unknown	MPND:NM_032868:exon4:c.A597G:p.A199A,MPND:NM_001159846:exon4:c.A597G:p.A199A,MPND:NM_001300862:exon4:c.A597G:p.A199A,	MPND:uc002mae.3:exon4:c.A597G:p.A199A,MPND:uc002mag.3:exon4:c.A597G:p.A199A,	UNKNOWN	Het;A>G	886;48|43	Hom;A>G	1524;0|57
N	N	-	19	4353174	4353174	A	G	snp	ncRNA_intronic	 	 	 	 	AC007292.3																		rs11085070	0.879992	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MPND	MPND	ENSG00000269807	Na	Na	Na	Na	Na	Na	Het;A>G	90;1|4	Hom;A>G	71;0|4
N	N	-	19	4353841	4353841	T	C	snp	ncRNA_exonic	 	 	 	 	AC007292.3																		rs7246177	0.653155	0	0	1	0	0	intronic	intronic	ncRNA_exonic	MPND	MPND	ENSG00000269807	Na	Na	Na	Na	Na	Na	Het;T>C	32;3|2	Hom;T>C	65;0|3
N	N	-	19	4355203	4355203	G	A	snp	intronic	 	 	 	 	MPND	Mpnd	ENSG00000008382	MPN domain containing	chr19:4343524-4360083			 		GO:0006508;proteolysis;IEA		GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MPND	https://www.uniprot.org/uniprot/Q8N594			http://www.informatics.jax.org/searchtool/Search.do?query=MPND&submit=Quick%0D%479ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPND	rs2041774	0.650958	0.5859	0.5855	1	0	0	intronic	intronic	intronic	MPND	MPND	ENSG00000008382	Na	Na	Na	Na	Na	Na	Het;G>A	161;10|8	Hom;G>A	495;0|17
N	N	-	19	4360543	4360543	G	A	snp	UTR3	*1054C>T	 	 	 	SH3GL1	Sh3gl1	ENSG00000141985	SH3 domain containing GRB2 like 1, endophilin A2	chr19:4360367-4400544	This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling.	InlB-mediated entry of Listeria monocytogenes into host cell	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS|GO:0016191;synaptic vesicle uncoating;IEA	GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031901;early endosome membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3GL1	https://www.uniprot.org/uniprot/Q99961	https://hpo.jax.org/app/browse/search?q=SH3GL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601768	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GL1&submit=Quick%0D%8241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GL1	rs7769	0.137181	0	0	1	0	0	UTR3	UTR3	UTR3	SH3GL1(NM_001199943:c.*1054C>T,NM_003025:c.*1054C>T,NM_001199944:c.*1054C>T)	SH3GL1(uc002mak.3:c.*1054C>T,uc002maj.3:c.*1054C>T,uc010xig.2:c.*1054C>T)	ENSG00000141985(ENST00000269886:c.*1054C>T,ENST00000598564:c.*1054C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	670;30|29	Hom;G>A	1622;1|61
N	N	-	19	4363289	4363289	C	T	snp	intronic	 	 	 	 	SH3GL1	Sh3gl1	ENSG00000141985	SH3 domain containing GRB2 like 1, endophilin A2	chr19:4360367-4400544	This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling.	InlB-mediated entry of Listeria monocytogenes into host cell	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS|GO:0016191;synaptic vesicle uncoating;IEA	GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031901;early endosome membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3GL1	https://www.uniprot.org/uniprot/Q99961	https://hpo.jax.org/app/browse/search?q=SH3GL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601768	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GL1&submit=Quick%0D%8241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GL1	rs62129346	0.190695	0	0	1	0	0	intronic	intronic	intronic	SH3GL1	SH3GL1	ENSG00000141985	Na	Na	Na	Na	Na	Na	Het;C>T	447;10|19	Hom;C>T	765;0|24
N	N	-	19	4365397	4365397	T	C	snp	intronic	 	 	 	 	SH3GL1	Sh3gl1	ENSG00000141985	SH3 domain containing GRB2 like 1, endophilin A2	chr19:4360367-4400544	This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling.	InlB-mediated entry of Listeria monocytogenes into host cell	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS|GO:0016191;synaptic vesicle uncoating;IEA	GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031901;early endosome membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3GL1	https://www.uniprot.org/uniprot/Q99961	https://hpo.jax.org/app/browse/search?q=SH3GL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601768	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GL1&submit=Quick%0D%8241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GL1	rs107288	0.738818	0	0	1	0	0	intronic	intronic	intronic	SH3GL1	SH3GL1	ENSG00000141985	Na	Na	Na	Na	Na	Na	Het;T>C	1097;40|47	Hom;T>C	2669;0|92
N	N	-	19	43679913	43679913	A	G	snp	intronic	 	 	 	 	PSG5		ENSG00000204941	pregnancy specific beta-1-glycoprotein 5	chr19:43670408-43690688	The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]			Cell surface interactions at the vascular wall	GO:0007565;female pregnancy;TAS	GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PSG5			https://www.ncbi.nlm.nih.gov/omim/?term=176394	http://www.informatics.jax.org/searchtool/Search.do?query=PSG5&submit=Quick%0D%17429ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSG5	rs72623882	0.320887	0	0	1	0	0	intronic	intronic	intronic	PSG5	PSG5,PSG6	ENSG00000204941	Na	Na	Na	Na	Na	Na	Het;A>G	137;5|6	Hom;A>G	113;0|4
N	N	-	19	43979589	43979589	G	T	snp	synonymous SNV	C906A	T302T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PHLDB3	Phldb3	ENSG00000176531	pleckstrin homology like domain family B member 3	chr19:43979106-44009087			 				GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PHLDB3				http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB3&submit=Quick%0D%13871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB3	rs1055099	0.559105	0.4561	0.4710	1	0	0	exonic	exonic	exonic	PHLDB3	PHLDB3	ENSG00000176531	synonymous SNV	synonymous SNV	unknown	PHLDB3:NM_198850:exon16:c.C1896A:p.T632T,	PHLDB3:uc010eit.3:exon10:c.C906A:p.T302T,PHLDB3:uc002own.4:exon16:c.C1896A:p.T632T,	UNKNOWN	Het;G>T	938;37|42	Hom;G>T	2032;0|74
N	N	-	19	43999634	43999634	A	C	snp	intronic	 	 	 	 	PHLDB3	Phldb3	ENSG00000176531	pleckstrin homology like domain family B member 3	chr19:43979106-44009087			 				GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PHLDB3				http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB3&submit=Quick%0D%13871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB3	rs1125030	0.642971	0.6354	0.6322	1	0	0	intronic	intronic	intronic	PHLDB3	PHLDB3	ENSG00000176531	Na	Na	Na	Na	Na	Na	Het;A>C	1139;76|54	Hom;A>C	2886;0|100
N	N	-	19	44001891	44001891	T	C	snp	intronic	 	 	 	 	PHLDB3	Phldb3	ENSG00000176531	pleckstrin homology like domain family B member 3	chr19:43979106-44009087			 				GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PHLDB3				http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB3&submit=Quick%0D%13871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB3	rs2682549	0.643171	0.6483	0.6414	1	0	0	intronic	intronic	intronic	PHLDB3	PHLDB3	ENSG00000176531	Na	Na	Na	Na	Na	Na	Het;T>C	802;62|41	Hom;T>C	2797;0|101
N	N	-	19	4400314	4400314	C	T	snp	intronic	 	 	 	 	SH3GL1	Sh3gl1	ENSG00000141985	SH3 domain containing GRB2 like 1, endophilin A2	chr19:4360367-4400544	This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling.	InlB-mediated entry of Listeria monocytogenes into host cell	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS|GO:0016191;synaptic vesicle uncoating;IEA	GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031901;early endosome membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3GL1	https://www.uniprot.org/uniprot/Q99961	https://hpo.jax.org/app/browse/search?q=SH3GL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601768	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GL1&submit=Quick%0D%8241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GL1	rs62129356	0.138179	0.1663	0.2038	1	0	0	intronic	intronic	intronic	SH3GL1	SH3GL1	ENSG00000141985	Na	Na	Na	Na	Na	Na	Het;C>T	516;17|25	Hom;C>T	1115;4|50
N	N	-	19	44012880	44012880	A	G	snp	intronic	 	 	 	 	ETHE1	Ethe1	ENSG00000105755	ETHE1, persulfide dioxygenase	chr19:44010871-44031396	This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]	HIV Infections|[X]Human immunodeficiency virus disease; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null mutation display premature death with elevated levels of hydrogen sulfide and thiosulfates.	Sulfide oxidation to sulfate	GO:0006749;glutathione metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070221;sulfide oxidation, using sulfide:quinone oxidoreductase;TAS|GO:0070813;hydrogen sulfide metabolic process;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS	GO:0005506;iron ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050313;sulfur dioxygenase activity;TAS|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ETHE1	https://www.uniprot.org/uniprot/O95571	https://hpo.jax.org/app/browse/search?q=ETHE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608451	http://www.informatics.jax.org/searchtool/Search.do?query=ETHE1&submit=Quick%0D%3384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ETHE1	rs2682578	0.758986	0.7274	0.7171	1	0	0	intronic	intronic	intronic	ETHE1	ETHE1	ENSG00000105755	Na	Na	Na	Na	Na	Na	Het;A>G	210;11|11	Hom;A>G	520;1|20
N	N	-	19	4409756	4409756	A	G	snp	synonymous SNV	A960G	R320R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CHAF1A	Chaf1a	ENSG00000167670	chromatin assembly factor 1 subunit A	chr19:4402659-4445015	Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]	Erythrocyte Indices; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Glioma; longevity	Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.		GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031497;chromatin assembly;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0033186;CAF-1 complex;IDA|GO:0043234;protein complex;IDA	GO:0003682;chromatin binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHAF1A			https://www.ncbi.nlm.nih.gov/omim/?term=601246	http://www.informatics.jax.org/searchtool/Search.do?query=CHAF1A&submit=Quick%0D%12076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAF1A	rs2230636	0.138179	0.1939	0.2019	1	0	0	exonic	exonic	exonic	CHAF1A	CHAF1A	ENSG00000167670	synonymous SNV	synonymous SNV	unknown	CHAF1A:NM_005483:exon3:c.A960G:p.R320R,	CHAF1A:uc002mal.3:exon3:c.A960G:p.R320R,	UNKNOWN	Het;A>G	900;63|49	Hom;A>G	2312;0|81
N	N	-	19	4423419	4423419	C	T	snp	intronic	 	 	 	 	CHAF1A	Chaf1a	ENSG00000167670	chromatin assembly factor 1 subunit A	chr19:4402659-4445015	Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]	Erythrocyte Indices; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Glioma; longevity	Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.		GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031497;chromatin assembly;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0033186;CAF-1 complex;IDA|GO:0043234;protein complex;IDA	GO:0003682;chromatin binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHAF1A			https://www.ncbi.nlm.nih.gov/omim/?term=601246	http://www.informatics.jax.org/searchtool/Search.do?query=CHAF1A&submit=Quick%0D%12076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAF1A	rs11668886	0.105631	0.1747	0.1775	1	0	0	intronic	intronic	intronic	CHAF1A	CHAF1A	ENSG00000167670	Na	Na	Na	Na	Na	Na	Het;C>T	1109;55|58	Hom;C>T	2642;0|101
N	N	-	19	4429007	4429007	C	T	snp	intronic	 	 	 	 	CHAF1A	Chaf1a	ENSG00000167670	chromatin assembly factor 1 subunit A	chr19:4402659-4445015	Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]	Erythrocyte Indices; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Glioma; longevity	Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.		GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031497;chromatin assembly;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0033186;CAF-1 complex;IDA|GO:0043234;protein complex;IDA	GO:0003682;chromatin binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHAF1A			https://www.ncbi.nlm.nih.gov/omim/?term=601246	http://www.informatics.jax.org/searchtool/Search.do?query=CHAF1A&submit=Quick%0D%12076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAF1A	rs62130978	0.138778	0	0	1	0	0	intronic	intronic	intronic	CHAF1A	CHAF1A	ENSG00000167670	Na	Na	Na	Na	Na	Na	Het;C>T	54;9|4	Hom;C>T	236;0|8
N	N	-	19	4432973	4432973	G	A	snp	intronic	 	 	 	 	CHAF1A	Chaf1a	ENSG00000167670	chromatin assembly factor 1 subunit A	chr19:4402659-4445015	Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]	Erythrocyte Indices; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Glioma; longevity	Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.		GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031497;chromatin assembly;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0033186;CAF-1 complex;IDA|GO:0043234;protein complex;IDA	GO:0003682;chromatin binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHAF1A			https://www.ncbi.nlm.nih.gov/omim/?term=601246	http://www.informatics.jax.org/searchtool/Search.do?query=CHAF1A&submit=Quick%0D%12076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAF1A	rs243372	0.548323	0	0	1	0	0	intronic	intronic	intronic	CHAF1A	CHAF1A	ENSG00000167670	Na	Na	Na	Na	Na	Na	Het;G>A	201;4|8	Hom;G>A	678;0|23
N	N	-	19	44376681	44376681	G	T	snp	UTR3	*26C>A	 	 	 	ZNF404	 	ENSG00000176222	zinc finger protein 404	chr19:44376515-44405537			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF404				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF404&submit=Quick%0D%13823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF404	rs1050054	0.526358	0.4516	0.5894	1	0	0	UTR3	UTR3	UTR3	ZNF404(NM_001033719:c.*26C>A)	ZNF404(uc002oxs.5:c.*26C>A,uc031rld.1:c.*26C>A,uc031rle.1:c.*26C>A)	ENSG00000176222(ENST00000587539:c.*26C>A,ENST00000324394:c.*26C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	624;22|24	Hom;G>T	1417;1|50
N	N	-	19	44377669	44377669	G	A	snp	nonsynonymous SNV	C688T	H230Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	ZNF404	 	ENSG00000176222	zinc finger protein 404	chr19:44376515-44405537			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF404				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF404&submit=Quick%0D%13823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF404	rs12977303	0.389976	0.3765	0.4746	0.70	7	10	exonic	exonic	exonic	ZNF404	ZNF404	ENSG00000176222	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF404:NM_001033719:exon2:c.C688T:p.H230Y,	ZNF404:uc031rle.1:exon3:c.C697T:p.H233Y,ZNF404:uc031rld.1:exon2:c.C595T:p.H199Y,ZNF404:uc002oxs.5:exon2:c.C595T:p.H199Y,	UNKNOWN	Het;G>A	91;2|4	Hom;G>A	496;0|15
N	N	-	19	44397225	44397225	G	C	snp	ncRNA_exonic	 	 	 	 	LOC100505715																		rs396874	0.605431	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100505715	LOC100505715	ENSG00000267058	Na	Na	Na	Na	Na	Na	Het;G>C	628;68|34	Hom;G>C	2737;2|99
N	N	-	19	44405044	44405044	A	T	snp	ncRNA_exonic	 	 	 	 	LOC100505715																		rs384522	0.526358	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100505715	LOC100505715	ENSG00000267058	Na	Na	Na	Na	Na	Na	Het;A>T	751;60|40	Hom;A>T	1999;0|70
N	N	-	19	44405281	44405281	G	C	snp	ncRNA_exonic	 	 	 	 	LOC100505715																		rs398099	0.526358	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100505715	LOC100505715	ENSG00000267058	Na	Na	Na	Na	Na	Na	Het;G>C	2244;62|59	Hom;G>C	5570;0|125
N	N	-	19	44405287	44405287	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100505715																		rs385321	0.526358	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100505715	LOC100505715	ENSG00000267058	Na	Na	Na	Na	Na	Na	Het;C>T	2239;59|59	Hom;C>T	5332;0|119
N	N	-	19	44405922	44405922	G	C	snp	ncRNA_exonic	 	 	 	 	LOC100505715																		rs108775	0.601238	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100505715	LOC100505715	ENSG00000267058	Na	Na	Na	Na	Na	Na	Het;G>C	925;50|39	Hom;G>C	4162;1|144
N	N	-	19	44417575	44417575	A	G	snp	synonymous SNV	T2013C	F671F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	ZNF45	 	ENSG00000124459	zinc finger protein 45	chr19:44416781-44439430		Multiple Sclerosis	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF45	https://www.uniprot.org/uniprot/Q02386		https://www.ncbi.nlm.nih.gov/omim/?term=194554	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF45&submit=Quick%0D%5659ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF45	rs417699	0.541534	0.4690	0.5431	1	0	0	exonic	exonic	exonic	ZNF45	ZNF45	ENSG00000124459	synonymous SNV	synonymous SNV	unknown	ZNF45:NM_003425:exon10:c.T2013C:p.F671F,	ZNF45:uc002oxu.2:exon4:c.T2013C:p.F671F,ZNF45:uc002oxw.2:exon10:c.T2013C:p.F671F,	UNKNOWN	Het;A>G	389;33|19	Hom;A>G	1111;0|44
N	N	-	19	44418693	44418693	T	C	snp	nonsynonymous SNV	A895G	T299A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ZNF45	 	ENSG00000124459	zinc finger protein 45	chr19:44416781-44439430		Multiple Sclerosis	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF45	https://www.uniprot.org/uniprot/Q02386		https://www.ncbi.nlm.nih.gov/omim/?term=194554	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF45&submit=Quick%0D%5659ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF45	rs388706	0.525359	0.4559	0.5272	0.15	2	13	exonic	exonic	exonic	ZNF45	ZNF45	ENSG00000124459	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF45:NM_003425:exon10:c.A895G:p.T299A,	ZNF45:uc002oxu.2:exon4:c.A895G:p.T299A,ZNF45:uc002oxw.2:exon10:c.A895G:p.T299A,	UNKNOWN	Het;T>C	336;3|9	Hom;T>C	147;0|4
N	N	-	19	44418824	44418824	C	T	snp	nonsynonymous SNV	G764A	R255K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZNF45	 	ENSG00000124459	zinc finger protein 45	chr19:44416781-44439430		Multiple Sclerosis	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF45	https://www.uniprot.org/uniprot/Q02386		https://www.ncbi.nlm.nih.gov/omim/?term=194554	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF45&submit=Quick%0D%5659ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF45	rs399098	0.414337	0.4075	0.4790	0.08	1	13	exonic	exonic	exonic	ZNF45	ZNF45	ENSG00000124459	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF45:NM_003425:exon10:c.G764A:p.R255K,	ZNF45:uc002oxu.2:exon4:c.G764A:p.R255K,ZNF45:uc002oxw.2:exon10:c.G764A:p.R255K,	UNKNOWN	Het;C>T	1093;53|50	Hom;C>T	2845;0|107
N	N	-	19	44422982	44422982	G	A	snp	ncRNA_intronic	 	 	 	 	AC006213.3																		rs423320	0.525359	0.4558	0.5283	1	0	0	intronic	intronic	ncRNA_intronic	ZNF45	ZNF45	ENSG00000267191	Na	Na	Na	Na	Na	Na	Het;G>A	239;18|11	Hom;G>A	848;0|31
N	N	-	19	44423195	44423195	G	A	snp	ncRNA_intronic	 	 	 	 	AC006213.3																		rs423752	0.525359	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ZNF45	ZNF45	ENSG00000267191	Na	Na	Na	Na	Na	Na	Het;G>A	136;7|7	Hom;G>A	587;0|21
N	N	-	19	4442336	4442336	C	T	snp	nonsynonymous SNV	C2768T	A923V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CHAF1A	Chaf1a	ENSG00000167670	chromatin assembly factor 1 subunit A	chr19:4402659-4445015	Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]	Erythrocyte Indices; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Glioma; longevity	Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.		GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031497;chromatin assembly;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0033186;CAF-1 complex;IDA|GO:0043234;protein complex;IDA	GO:0003682;chromatin binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHAF1A			https://www.ncbi.nlm.nih.gov/omim/?term=601246	http://www.informatics.jax.org/searchtool/Search.do?query=CHAF1A&submit=Quick%0D%12076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAF1A	rs9352	0.567891	0.5189	0.5994	0.17	2	12	exonic	exonic	exonic	CHAF1A	CHAF1A	ENSG00000167670	nonsynonymous SNV	nonsynonymous SNV	unknown	CHAF1A:NM_005483:exon14:c.C2768T:p.A923V,	CHAF1A:uc002mal.3:exon14:c.C2768T:p.A923V,	UNKNOWN	Het;C>T	1095;68|59	Hom;C>T	2653;0|103
N	N	-	19	44423570	44423570	T	C	snp	ncRNA_intronic	 	 	 	 	AC006213.3																		rs375066	0.528355	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ZNF45	ZNF45	ENSG00000267191	Na	Na	Na	Na	Na	Na	Het;T>C	216;6|7	Hom;T>C	429;0|12
N	N	-	19	4442529	4442529	T	C	snp	intronic	 	 	 	 	CHAF1A	Chaf1a	ENSG00000167670	chromatin assembly factor 1 subunit A	chr19:4402659-4445015	Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]	Erythrocyte Indices; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Glioma; longevity	Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.		GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031497;chromatin assembly;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0033186;CAF-1 complex;IDA|GO:0043234;protein complex;IDA	GO:0003682;chromatin binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CHAF1A			https://www.ncbi.nlm.nih.gov/omim/?term=601246	http://www.informatics.jax.org/searchtool/Search.do?query=CHAF1A&submit=Quick%0D%12076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAF1A	rs243382	0.631789	0	0	1	0	0	intronic	intronic	intronic	CHAF1A	CHAF1A	ENSG00000167670	Na	Na	Na	Na	Na	Na	Het;T>C	35;3|2	Hom;T>C	177;0|6
N	N	-	19	44426265	44426265	A	G	snp	ncRNA_intronic	 	 	 	 	AC006213.3																		rs413093	0.528155	0.4569	0	1	0	0	intronic	intronic	ncRNA_intronic	ZNF45	ZNF45	ENSG00000267191	Na	Na	Na	Na	Na	Na	Het;A>G	214;24|10	Hom;A>G	986;0|35
N	N	-	19	44426467	44426467	T	TG	indel	ncRNA_intronic	 	 	 	 	AC006213.3																		rs57712519	0.500599	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ZNF45	ZNF45	ENSG00000267191	Na	Na	Na	Na	Na	Na	Het;+G	170;2|6	Hom;+G	121;0|4
N	N	-	19	4446995	4446995	C	T	snp	intronic	 	 	 	 	UBXN6	Ubxn6	ENSG00000167671	UBX domain protein 6	chr19:4444996-4457819			 		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBXN6			https://www.ncbi.nlm.nih.gov/omim/?term=611946	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN6&submit=Quick%0D%12077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN6	rs243389	0.567891	0	0	1	0	0	intronic	intronic	intronic	UBXN6	UBXN6	ENSG00000167671	Na	Na	Na	Na	Na	Na	Het;C>T	330;6|14	Hom;C>T	431;0|14
N	N	-	19	4453325	4453325	G	C	snp	intronic	 	 	 	 	UBXN6	Ubxn6	ENSG00000167671	UBX domain protein 6	chr19:4444996-4457819			 		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBXN6			https://www.ncbi.nlm.nih.gov/omim/?term=611946	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN6&submit=Quick%0D%12077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN6	rs411833	0.574481	0	0	1	0	0	intronic	intronic	intronic	UBXN6	UBXN6	ENSG00000167671	Na	Na	Na	Na	Na	Na	Het;G>C	127;7|5	Hom;G>C	467;0|11
N	N	-	19	4454083	4454083	C	T	snp	nonsynonymous SNV	G91A	A31T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	UBXN6	Ubxn6	ENSG00000167671	UBX domain protein 6	chr19:4444996-4457819			 		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBXN6			https://www.ncbi.nlm.nih.gov/omim/?term=611946	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN6&submit=Quick%0D%12077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN6	rs1127888	0.166933	0.2197	0.2215	0.15	2	13	exonic	exonic	exonic	UBXN6	UBXN6	ENSG00000167671	nonsynonymous SNV	nonsynonymous SNV	unknown	UBXN6:NM_025241:exon2:c.G91A:p.A31T,	UBXN6:uc002man.2:exon2:c.G91A:p.A31T,	UNKNOWN	Het;C>T	376;60|26	Hom;C>T	1691;0|64
N	N	-	19	44676148	44676148	G	C	snp	intronic	 	 	 	 	ZNF226	Zfp111	ENSG00000167380	zinc finger protein 226	chr19:44669226-44682534			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF226				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF226&submit=Quick%0D%12006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF226	rs2232801	0.64996	0	0	1	0	0	intronic	intronic	intronic	ZNF226	ZNF226	ENSG00000167380	Na	Na	Na	Na	Na	Na	Het;G>C	183;9|8	Hom;G>C	146;0|6
N	N	-	19	44739303	44739303	T	C	snp	synonymous SNV	T720C	N240N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF227	 	ENSG00000131115	zinc finger protein 227	chr19:44711700-44741421			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF227	https://www.uniprot.org/uniprot/Q86WZ6			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF227&submit=Quick%0D%6499ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF227	rs2279073	0.418331	0.4305	0.5093	1	0	0	exonic	exonic	exonic	ZNF227	ZNF227	ENSG00000131115	synonymous SNV	synonymous SNV	unknown	ZNF227:NM_001289166:exon6:c.T720C:p.N240N,ZNF227:NM_182490:exon6:c.T720C:p.N240N,ZNF227:NM_001289173:exon5:c.T636C:p.N212N,ZNF227:NM_001289172:exon4:c.T429C:p.N143N,ZNF227:NM_001289171:exon4:c.T483C:p.N161N,ZNF227:NM_001289167:exon6:c.T567C:p.N189N,ZNF227:NM_001289170:exon4:c.T483C:p.N161N,ZNF227:NM_001289168:exon5:c.T567C:p.N189N,ZNF227:NM_001289169:exon5:c.T567C:p.N189N,	ZNF227:uc002oyu.3:exon6:c.T720C:p.N240N,ZNF227:uc002oyv.3:exon6:c.T720C:p.N240N,ZNF227:uc002oyw.3:exon4:c.T636C:p.N212N,ZNF227:uc010ejh.3:exon4:c.T699C:p.N233N,ZNF227:uc010xwv.2:exon5:c.T567C:p.N189N,ZNF227:uc010xww.2:exon4:c.T483C:p.N161N,ZNF227:uc010xwu.2:exon6:c.T567C:p.N189N,	UNKNOWN	Het;T>C	2113;101|98	Hom;T>C	4842;1|171
N	N	-	19	44933504	44933504	G	A	snp	synonymous SNV	C1452T	T484T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF229	 	ENSG00000278318	zinc finger protein 229	chr19:44921685-44952766		Tuberculosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF229				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229	rs59505617	0.158746	0.1248	0.1365	1	0	0	exonic	exonic	exonic	ZNF229	ZNF229	ENSG00000167383	synonymous SNV	synonymous SNV	unknown	ZNF229:NM_014518:exon6:c.C1452T:p.T484T,ZNF229:NM_001278510:exon6:c.C1434T:p.T478T,	ZNF229:uc002oze.1:exon6:c.C1452T:p.T484T,ZNF229:uc010ejl.1:exon6:c.C1434T:p.T478T,ZNF229:uc010ejk.1:exon6:c.C414T:p.T138T,	UNKNOWN	Het;G>A	1657;80|81	Hom;G>A	3704;1|136
N	N	-	19	44933706	44933706	C	T	snp	nonsynonymous SNV	G1250A	S417N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF229	 	ENSG00000278318	zinc finger protein 229	chr19:44921685-44952766		Tuberculosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF229				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229	rs57014690	0.16254	0.1300	0.1393	0.11	1	9	exonic	exonic	exonic	ZNF229	ZNF229	ENSG00000167383	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF229:NM_014518:exon6:c.G1250A:p.S417N,ZNF229:NM_001278510:exon6:c.G1232A:p.S411N,	ZNF229:uc002oze.1:exon6:c.G1250A:p.S417N,ZNF229:uc010ejl.1:exon6:c.G1232A:p.S411N,ZNF229:uc010ejk.1:exon6:c.G212A:p.S71N,	UNKNOWN	Het;C>T	1511;55|64	Hom;C>T	2560;0|92
N	N	-	19	44934489	44934489	G	A	snp	nonsynonymous SNV	C467T	S156F	polar,hydrophilic,neutral	aromatic,hydrophobic,neutral	ZNF229	 	ENSG00000278318	zinc finger protein 229	chr19:44921685-44952766		Tuberculosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF229				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229	rs2571174	0.88778	0.9201	0.8929	1	0	0	exonic	exonic	exonic	ZNF229	ZNF229	ENSG00000167383	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF229:NM_014518:exon6:c.C467T:p.S156F,ZNF229:NM_001278510:exon6:c.C449T:p.S150F,	ZNF229:uc002oze.1:exon6:c.C467T:p.S156F,ZNF229:uc010ejl.1:exon6:c.C449T:p.S150F,	UNKNOWN	Het;G>A	1528;82|71	Hom;G>A	3972;3|151
N	N	-	19	44934653	44934653	T	C	snp	synonymous SNV	A303G	K101K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZNF229	 	ENSG00000278318	zinc finger protein 229	chr19:44921685-44952766		Tuberculosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF229				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229	rs8113370	0.163139	0.1289	0.1412	1	0	0	exonic	exonic	exonic	ZNF229	ZNF229	ENSG00000167383	synonymous SNV	synonymous SNV	unknown	ZNF229:NM_014518:exon6:c.A303G:p.K101K,ZNF229:NM_001278510:exon6:c.A285G:p.K95K,	ZNF229:uc002oze.1:exon6:c.A303G:p.K101K,ZNF229:uc010ejl.1:exon6:c.A285G:p.K95K,	UNKNOWN	Het;T>C	1247;74|59	Hom;T>C	3663;1|140
N	N	-	19	44947184	44947184	T	C	snp	ncRNA_exonic	 	 	 	 	AC245748.2																		rs204547	0.324681	0	0	1	0	0	UTR5	UTR5	ncRNA_exonic	ZNF229(NM_014518:c.-153A>G,NM_001278510:c.-153A>G)	ZNF229(uc002oze.1:c.-153A>G,uc010ejk.1:c.-13267A>G,uc010ejl.1:c.-153A>G)	ENSG00000267188	Na	Na	Na	Na	Na	Na	Het;T>C	1373;79|66	Hom;T>C	2885;2|108
N	N	-	19	45024879	45024881	CGT	C	indel	ncRNA_intronic	 	 	 	 	ENSG00000176395																		rs57244256	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CEACAM20	CEACAM20	ENSG00000176395	Na	Na	Na	Na	Na	Na	Het;-GT	167;10|7	Hom;-GT	904;0|21
N	N	-	19	45029208	45029208	G	A	snp	nonsynonymous SNV	C122T	A41V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CEACAM20	Ceacam20	ENSG00000273777	carcinoembryonic antigen related cell adhesion molecule 20	chr19:45005729-45033811		Tunica Media; Tobacco Use Disorder	 		GO:0001819;positive regulation of cytokine production;IEA|GO:0009617;response to bacterium;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031528;microvillus membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEACAM20				http://www.informatics.jax.org/searchtool/Search.do?query=CEACAM20&submit=Quick%0D%20986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEACAM20	rs10408247	0.290535	0.2275	0.1645	0.00	0	5	exonic	exonic	ncRNA_exonic	CEACAM20	CEACAM20	ENSG00000176395	nonsynonymous SNV	nonsynonymous SNV	Na	CEACAM20:NM_001102600:exon2:c.C122T:p.A41V,CEACAM20:NM_001102598:exon2:c.C122T:p.A41V,CEACAM20:NM_001102599:exon2:c.C122T:p.A41V,CEACAM20:NM_001102597:exon2:c.C122T:p.A41V,	CEACAM20:uc010ejn.1:exon2:c.C122T:p.A41V,CEACAM20:uc010ejq.1:exon2:c.C122T:p.A41V,CEACAM20:uc010ejp.1:exon2:c.C122T:p.A41V,CEACAM20:uc010ejo.1:exon2:c.C122T:p.A41V,	Na	Het;G>A	725;29|35	Hom;G>A	1856;2|74
N	N	-	19	45041818	45041818	T	G	snp	ncRNA_exonic	 	 	 	 	CEACAM22P																		rs1661184	0.89357	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CEACAM22P	CEACAM22P	ENSG00000230666	Na	Na	Na	Na	Na	Na	Het;T>G	1573;38|67	Hom;T>G	3078;0|111
N	N	-	19	45043259	45043259	T	A	snp	ncRNA_exonic	 	 	 	 	CEACAM22P																		rs930461	0.453275	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CEACAM22P	CEACAM22P	ENSG00000230666	Na	Na	Na	Na	Na	Na	Het;T>A	668;39|35	Hom;T>A	2646;0|102
N	N	-	19	45047022	45047022	C	T	snp	ncRNA_intronic	 	 	 	 	CEACAM22P																		rs1727746	0.423722	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CEACAM22P	CEACAM22P	ENSG00000230666	Na	Na	Na	Na	Na	Na	Het;C>T	674;28|32	Hom;C>T	1509;0|55
N	N	-	19	45050490	45050490	A	C	snp	ncRNA_intronic	 	 	 	 	CEACAM22P																		rs1626475	0.726038	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CEACAM22P	CEACAM22P	ENSG00000230666	Na	Na	Na	Na	Na	Na	Het;A>C	428;6|16	Hom;A>C	283;0|10
N	N	-	19	4511647	4511647	C	G	snp	nonsynonymous SNV	G2283C	K761N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PLIN4	Plin4	ENSG00000167676	perilipin 4	chr19:4502204-4517716	Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]	Obesity	Mice homozygous for a knock-out allele exhibit decreased triglyceride in the heart and protection from cardiac steatosis induced by prolonged fasting, feeding or genetic obesity.			GO:0005737;cytoplasm;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PLIN4			https://www.ncbi.nlm.nih.gov/omim/?term=613247	http://www.informatics.jax.org/searchtool/Search.do?query=PLIN4&submit=Quick%0D%12079ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLIN4	rs7256387	0.841853	0.8206	0.8443	0.08	1	13	exonic	exonic	exonic	PLIN4	PLIN4	ENSG00000167676	nonsynonymous SNV	nonsynonymous SNV	unknown	PLIN4:NM_001080400:exon3:c.G2283C:p.K761N,	PLIN4:uc002mar.1:exon3:c.G2283C:p.K761N,	UNKNOWN	Het;C>G	601;241|39	Hom;C>G	2157;0|65
N	N	-	19	4525046	4525046	A	G	snp	nonsynonymous SNV	T763C	C255R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	PLIN5	Plin5	ENSG00000214456	perilipin 5	chr19:4522543-4535236	Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]		Mice homozygous for a knock-out allele exhibit excessive fatty acid oxidation, abnormal lipid levels in organs depending on fed or fasted state, increased oxygen consumption and activity in the dark phase, and decreased cardiac muscle contractility in aged mice.		GO:0010867;positive regulation of triglyceride biosynthetic process;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010890;positive regulation of sequestering of triglyceride;IEA|GO:0010897;negative regulation of triglyceride catabolic process;IEA|GO:0019915;lipid storage;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0032000;positive regulation of fatty acid beta-oxidation;IEA|GO:0034389;lipid particle organization;IEA|GO:0035359;negative regulation of peroxisome proliferator activated receptor signaling pathway;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051646;mitochondrion localization;IEA|GO:0060192;negative regulation of lipase activity;IEA|GO:0060193;positive regulation of lipase activity;IEA|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;IEA	GO:0035473;lipase binding;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLIN5			https://www.ncbi.nlm.nih.gov/omim/?term=613248	http://www.informatics.jax.org/searchtool/Search.do?query=PLIN5&submit=Quick%0D%18246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLIN5	rs1610090	0.847244	0.9206	0.8641	0.08	1	12	exonic	exonic	exonic	PLIN5	PLIN5	ENSG00000214456	nonsynonymous SNV	nonsynonymous SNV	unknown	PLIN5:NM_001013706:exon7:c.T763C:p.C255R,	PLIN5:uc002mas.3:exon7:c.T763C:p.C255R,	UNKNOWN	Het;A>G	1590;70|75	Hom;A>G	2741;2|100
N	N	-	19	45382034	45382034	A	G	snp	UTR3	*157A>G	 	 	 	NECTIN2	Nectin2																	rs6859	0.633586	0	0	1	0	0	UTR3	UTR3	UTR3	PVRL2(NM_002856:c.*157A>G)	PVRL2(uc002ozv.3:c.*157A>G)	ENSG00000130202(ENST00000252485:c.*157A>G,ENST00000591581:c.*157A>G,ENST00000585601:c.*318A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	191;1|6	Hom;A>G	131;0|4
N	N	-	19	45536036	45536036	C	G	snp	intronic	 	 	 	 	RELB	Relb	ENSG00000104856	RELB proto-oncogene, NF-kB subunit	chr19:45504688-45541452		Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Arthritis, Rheumatoid|; plasma HDL cholesterol (HDL-C) levels; Multiple Myeloma; normal variation; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Type 2 Diabetes| edema | rosiglitazone; prostate cancer; benzene haematotoxicity	Mutant homozygotes die prematurely with phenotypes including inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, epidermal hyperplasia, or hepatitiswith mononuclear infiltration.	NIK-->noncanonical NF-kB signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006954;inflammatory response;IBA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0019882;antigen processing and presentation;IEA|GO:0032688;negative regulation of interferon-beta production;IMP|GO:0032922;circadian regulation of gene expression;IEA|GO:0034097;response to cytokine;IBA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0042088;T-helper 1 type immune response;IEA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0045063;T-helper 1 cell differentiation;IEA|GO:0045087;innate immune response;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0048511;rhythmic process;IEA|GO:0071470;cellular response to osmotic stress;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0033256;I-kappaB/NF-kappaB complex;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001047;core promoter binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RELB	https://www.uniprot.org/uniprot/Q01201	https://hpo.jax.org/app/browse/search?q=RELB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604758	http://www.informatics.jax.org/searchtool/Search.do?query=RELB&submit=Quick%0D%3180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELB	rs10424046	0.427516	0.4647	0.5254	1	0	0	intronic	intronic	intronic	RELB	RELB	ENSG00000104856	Na	Na	Na	Na	Na	Na	Het;C>G	506;37|24	Hom;C>G	1676;0|58
N	N	-	19	45537417	45537421	AAAAT	A	indel	intronic	 	 	 	 	RELB	Relb	ENSG00000104856	RELB proto-oncogene, NF-kB subunit	chr19:45504688-45541452		Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Arthritis, Rheumatoid|; plasma HDL cholesterol (HDL-C) levels; Multiple Myeloma; normal variation; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Type 2 Diabetes| edema | rosiglitazone; prostate cancer; benzene haematotoxicity	Mutant homozygotes die prematurely with phenotypes including inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, epidermal hyperplasia, or hepatitiswith mononuclear infiltration.	NIK-->noncanonical NF-kB signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006954;inflammatory response;IBA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0019882;antigen processing and presentation;IEA|GO:0032688;negative regulation of interferon-beta production;IMP|GO:0032922;circadian regulation of gene expression;IEA|GO:0034097;response to cytokine;IBA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0042088;T-helper 1 type immune response;IEA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0045063;T-helper 1 cell differentiation;IEA|GO:0045087;innate immune response;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0048511;rhythmic process;IEA|GO:0071470;cellular response to osmotic stress;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0033256;I-kappaB/NF-kappaB complex;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001047;core promoter binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RELB	https://www.uniprot.org/uniprot/Q01201	https://hpo.jax.org/app/browse/search?q=RELB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604758	http://www.informatics.jax.org/searchtool/Search.do?query=RELB&submit=Quick%0D%3180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELB	rs143167603	0.447284	0	0	1	0	0	intronic	intronic	intronic	RELB	RELB	ENSG00000104856	Na	Na	Na	Na	Na	Na	Het;-AAAT	1192;39|34	Hom;-AAAT	2690;0|64
N	N	-	19	45571781	45571781	T	C	snp	intronic	 	 	 	 	CLASRP	Clasrp	ENSG00000104859	CLK4 associating serine/arginine rich protein	chr19:45542298-45574214		benzene haematotoxicity	 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA	GO:0005634;nucleus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CLASRP	https://www.uniprot.org/uniprot/Q8N2M8			http://www.informatics.jax.org/searchtool/Search.do?query=CLASRP&submit=Quick%0D%3181ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLASRP	rs10445571	0.466853	0.5257	0.4892	1	0	0	intronic	intronic	intronic	CLASRP	CLASRP	ENSG00000104859	Na	Na	Na	Na	Na	Na	Het;T>C	191;12|11	Hom;T>C	648;0|26
N	N	-	19	45574755	45574755	G	C	snp	downstream	 	 	 	 	CLASRP	Clasrp	ENSG00000104859	CLK4 associating serine/arginine rich protein	chr19:45542298-45574214		benzene haematotoxicity	 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA	GO:0005634;nucleus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CLASRP	https://www.uniprot.org/uniprot/Q8N2M8			http://www.informatics.jax.org/searchtool/Search.do?query=CLASRP&submit=Quick%0D%3181ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLASRP	rs28673961	0.400559	0	0	1	0	0	downstream	downstream	downstream	CLASRP,ZNF296	CLASRP,ZNF296	ENSG00000104859,ENSG00000170684	Na	Na	Na	Na	Na	Na	Het;G>C	80;1|3	Hom;G>C	142;0|5
N	N	-	19	45593289	45593289	G	T	snp	ncRNA_intronic	 	 	 	 	AC011489.1																		rs76007960	0.0628994	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GEMIN7	GEMIN7	ENSG00000267348	Na	Na	Na	Na	Na	Na	Het;G>T	312;13|16	Hom;G>T	654;0|22
N	N	-	19	45596635	45596635	A	G	snp	nonsynonymous SNV	A52G	I18V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PPP1R37	Ppp1r37	ENSG00000104866	protein phosphatase 1 regulatory subunit 37	chr19:45594654-45651335		Body Weight	 		GO:0010923;negative regulation of phosphatase activity;IDA		GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R37	https://www.uniprot.org/uniprot/O75864			http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R37&submit=Quick%0D%3183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R37	rs75282681	0.0628994	0	0.1575	0.08	1	12	exonic	exonic	exonic	PPP1R37	PPP1R37	ENSG00000104866	nonsynonymous SNV	nonsynonymous SNV	unknown	PPP1R37:NM_019121:exon1:c.A52G:p.I18V,	PPP1R37:uc021uvs.1:exon1:c.A52G:p.I18V,	UNKNOWN	Het;A>G	210;11|11	Hom;A>G	904;0|35
N	N	-	19	45596886	45596886	C	T	snp	intronic	 	 	 	 	PPP1R37	Ppp1r37	ENSG00000104866	protein phosphatase 1 regulatory subunit 37	chr19:45594654-45651335		Body Weight	 		GO:0010923;negative regulation of phosphatase activity;IDA		GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R37	https://www.uniprot.org/uniprot/O75864			http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R37&submit=Quick%0D%3183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R37	rs75350052	0.0990415	0	0	1	0	0	intronic	intronic	intronic	PPP1R37	PPP1R37	ENSG00000007047,ENSG00000104866	Na	Na	Na	Na	Na	Na	Het;C>T	96;4|4	Hom;C>T	338;0|12
N	N	-	19	45645553	45645553	G	A	snp	intronic	 	 	 	 	PPP1R37	Ppp1r37	ENSG00000104866	protein phosphatase 1 regulatory subunit 37	chr19:45594654-45651335		Body Weight	 		GO:0010923;negative regulation of phosphatase activity;IDA		GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R37	https://www.uniprot.org/uniprot/O75864			http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R37&submit=Quick%0D%3183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R37	rs112401916	0.0634984	0	0.1212	1	0	0	intronic	intronic	intronic	PPP1R37	PPP1R37	ENSG00000007047,ENSG00000104866	Na	Na	Na	Na	Na	Na	Het;G>A	1058;45|50	Hom;G>A	2419;0|86
N	N	-	19	45655647	45655647	G	T	snp	nonsynonymous SNV	C2048A	A683E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	NKPD1	Nkpd1	ENSG00000179846	NTPase KAP family P-loop domain containing 1	chr19:45653008-45663408			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NKPD1				http://www.informatics.jax.org/searchtool/Search.do?query=NKPD1&submit=Quick%0D%14391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKPD1	rs117934605	0.0503195	0.0928	0.1616	0.08	1	13	exonic	exonic	exonic	NKPD1	NKPD1	ENSG00000179846	nonsynonymous SNV	nonsynonymous SNV	unknown	NKPD1:NM_198478:exon4:c.C2048A:p.A683E,	NKPD1:uc021uvt.1:exon1:c.C1382A:p.A461E,NKPD1:uc010xxi.2:exon4:c.C2048A:p.A683E,	UNKNOWN	Het;G>T	616;30|28	Hom;G>T	3092;0|118
N	N	-	19	45668292	45668292	C	T	snp	intronic	 	 	 	 	TRAPPC6A	Trappc6a	ENSG00000007255	trafficking protein particle complex 6A	chr19:45666186-45681495	This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]	Cholesterol; Cholesterol, LDL	Homozygous mice exhibit pigmentation abnormalities including mosaic loss of coat pigment, patchy loss of pigmentation in the retinal pigmented epithelial layer, and abnormal melanosomes.	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0043473;pigmentation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0030008;TRAPP complex;IBA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC6A	https://www.uniprot.org/uniprot/O75865		https://www.ncbi.nlm.nih.gov/omim/?term=610396	http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC6A&submit=Quick%0D%437ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC6A	rs77838861	0.0463259	0	0	1	0	0	intronic	intronic	intronic	TRAPPC6A	TRAPPC6A	ENSG00000007047,ENSG00000007255	Na	Na	Na	Na	Na	Na	Het;C>T	877;23|38	Hom;C>T	1279;2|45
N	N	-	19	45681907	45681907	C	CAAA	indel	upstream	 	 	 	 	BLOC1S3	Bloc1s3	ENSG00000189114	biogenesis of lysosomal organelles complex 1 subunit 3	chr19:45682003-45685059	This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]	quantitative traits; Alzheimer's disease	Homozygotes have a hypopigmented coat color and show phenotypic similarity to human Hermansky-Pudlak Syndrome.	Golgi Associated Vesicle Biogenesis	GO:0001654;eye development;IMP|GO:0008089;anterograde axonal transport;ISS|GO:0030168;platelet activation;IMP|GO:0031175;neuron projection development;ISS|GO:0032402;melanosome transport;IDA|GO:0032438;melanosome organization;NAS|GO:0035646;endosome to melanosome transport;IDA|GO:0043473;pigmentation;IMP|GO:0048490;anterograde synaptic vesicle transport;ISS|GO:0060155;platelet dense granule organization;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030133;transport vesicle;IDA|GO:0031083;BLOC-1 complex;IDA|GO:1904115;axon cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BLOC1S3		https://hpo.jax.org/app/browse/search?q=BLOC1S3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609762	http://www.informatics.jax.org/searchtool/Search.do?query=BLOC1S3&submit=Quick%0D%16183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BLOC1S3	rs142628440	0.0465256	0	0	1	0	0	upstream	upstream	intronic	BLOC1S3,TRAPPC6A	BLOC1S3,TRAPPC6A	ENSG00000007047	Na	Na	Na	Na	Na	Na	Het;+AAA	56;11|3	Hom;+AAA	368;0|8
N	N	-	19	45682026	45682026	A	C	snp	UTR5	-529A>C	 	 	 	BLOC1S3	Bloc1s3	ENSG00000189114	biogenesis of lysosomal organelles complex 1 subunit 3	chr19:45682003-45685059	This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]	quantitative traits; Alzheimer's disease	Homozygotes have a hypopigmented coat color and show phenotypic similarity to human Hermansky-Pudlak Syndrome.	Golgi Associated Vesicle Biogenesis	GO:0001654;eye development;IMP|GO:0008089;anterograde axonal transport;ISS|GO:0030168;platelet activation;IMP|GO:0031175;neuron projection development;ISS|GO:0032402;melanosome transport;IDA|GO:0032438;melanosome organization;NAS|GO:0035646;endosome to melanosome transport;IDA|GO:0043473;pigmentation;IMP|GO:0048490;anterograde synaptic vesicle transport;ISS|GO:0060155;platelet dense granule organization;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030133;transport vesicle;IDA|GO:0031083;BLOC-1 complex;IDA|GO:1904115;axon cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BLOC1S3		https://hpo.jax.org/app/browse/search?q=BLOC1S3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609762	http://www.informatics.jax.org/searchtool/Search.do?query=BLOC1S3&submit=Quick%0D%16183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BLOC1S3	rs8104024	0.0465256	0	0	1	0	0	UTR5	UTR5	UTR5	BLOC1S3(NM_212550:c.-529A>C)	BLOC1S3(uc002pax.4:c.-529A>C)	ENSG00000189114(ENST00000433642:c.-529A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	543;53|28	Hom;A>C	2263;1|84
N	N	-	19	45820927	45820927	G	A	snp	intronic	 	 	 	 	CKM	Ckm	ENSG00000104879	creatine kinase, M-type	chr19:45809672-45826235	The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]	endurance performance; heart anomalies, congenital; elite rowing; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; oxygen consumption; Dengue Hemorrhagic Fever	Mice homozygous for disruptions in this gene display abnormalities in function and energy utilization of both skeletal and cardiac muscle.	Creatine metabolism	GO:0006600;creatine metabolic process;TAS|GO:0016310;phosphorylation;IEA|GO:0046314;phosphocreatine biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004111;creatine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016772;transferase activity, transferring phosphorus-containing groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CKM	https://www.uniprot.org/uniprot/P06732		https://www.ncbi.nlm.nih.gov/omim/?term=123310	http://www.informatics.jax.org/searchtool/Search.do?query=CKM&submit=Quick%0D%3186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKM	rs12976956	0.309305	0	0	1	0	0	intronic	intronic	intronic	CKM	CKM	ENSG00000104879	Na	Na	Na	Na	Na	Na	Het;G>A	191;6|8	Hom;G>A	149;0|5
N	N	-	19	45835983	45835983	A	G	snp	ncRNA_exonic	 	 	 	 	RPS16P9																		rs12972151	0.225839	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CKM(dist=9748),KLC3(dist=8015)	CKM(dist=9748),KLC3(dist=8015)	ENSG00000242675	Na	Na	Na	Na	Na	Na	Het;A>G	140;2|8	Hom;A>G	215;0|8
N	N	-	19	45853517	45853518	CA	C	indel	UTR3	*1370_*1369delinsG	 	 	 	ERCC2	Ercc2	ENSG00000104884	ERCC excision repair 2, TFIIH core complex helicase subunit	chr19:45853095-45874176	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]	leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma	Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.	RNA Pol II CTD phosphorylation and interaction with CE	GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP	GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERCC2	https://www.uniprot.org/uniprot/P18074	https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126340	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2	rs61513187	0.616214	0	0	1	0	0	intronic	intronic	UTR3	KLC3	KLC3	ENSG00000104884(ENST00000391945:c.*1370_*1369delinsG)	Na	Na	Na	Na	Na	Na	Het;-A	83;2|7	Hom;-A	199;0|11
N	N	-	19	45854330	45854330	A	C	snp	UTR3	*557T>G	 	 	 	ERCC2	Ercc2	ENSG00000104884	ERCC excision repair 2, TFIIH core complex helicase subunit	chr19:45853095-45874176	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]	leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma	Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.	RNA Pol II CTD phosphorylation and interaction with CE	GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP	GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERCC2	https://www.uniprot.org/uniprot/P18074	https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126340	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2	rs3916898	0.0315495	0.0585	0	1	0	0	intronic	intronic	UTR3	KLC3	KLC3	ENSG00000104884(ENST00000391945:c.*557T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	343;15|16	Hom;A>C	501;0|20
N	N	-	19	45854503	45854508	CCCTCA	C	indel	UTR3	*384_*379delinsG	 	 	 	ERCC2	Ercc2	ENSG00000104884	ERCC excision repair 2, TFIIH core complex helicase subunit	chr19:45853095-45874176	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]	leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma	Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.	RNA Pol II CTD phosphorylation and interaction with CE	GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP	GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERCC2	https://www.uniprot.org/uniprot/P18074	https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126340	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2	rs143201119	0.229233	0.0023	0.3244	1	0	0	intronic	intronic	UTR3	KLC3	KLC3	ENSG00000104884(ENST00000391945:c.*384_*379delinsG)	Na	Na	Na	Na	Na	Na	Het;-CCTCA	343;38|20	Hom;-CCTCA	1920;2|46
N	N	-	19	45854919	45854919	T	G	snp	nonsynonymous SNV	A2251C	K751Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ERCC2	Ercc2	ENSG00000104884	ERCC excision repair 2, TFIIH core complex helicase subunit	chr19:45853095-45874176	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]	leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma	Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.	RNA Pol II CTD phosphorylation and interaction with CE	GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP	GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERCC2	https://www.uniprot.org/uniprot/P18074	https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126340	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2	rs13181	0.236621	0.3260	0.3308	0.23	3	13	exonic	exonic	exonic	ERCC2	ERCC2	ENSG00000104884	nonsynonymous SNV	nonsynonymous SNV	unknown	ERCC2:NM_000400:exon23:c.A2251C:p.K751Q,	ERCC2:uc002pbh.2:exon10:c.A940C:p.K314Q,ERCC2:uc010ejz.2:exon21:c.A2017C:p.K673Q,ERCC2:uc002pbi.2:exon12:c.A1330C:p.K444Q,ERCC2:uc002pbj.2:exon23:c.A2251C:p.K751Q,	UNKNOWN	Het;T>G	815;31|37	Hom;T>G	2041;0|72
N	N	-	19	45855060	45855060	C	G	snp	intronic	 	 	 	 	ERCC2	Ercc2	ENSG00000104884	ERCC excision repair 2, TFIIH core complex helicase subunit	chr19:45853095-45874176	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]	leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma	Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.	RNA Pol II CTD phosphorylation and interaction with CE	GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP	GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERCC2	https://www.uniprot.org/uniprot/P18074	https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126340	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2	rs1799790	0.203075	0	0	1	0	0	intronic	intronic	intronic	ERCC2	ERCC2	ENSG00000104884	Na	Na	Na	Na	Na	Na	Het;C>G	97;10|5	Hom;C>G	273;0|9
N	N	-	19	45856100	45856100	G	A	snp	intronic	 	 	 	 	ERCC2	Ercc2	ENSG00000104884	ERCC excision repair 2, TFIIH core complex helicase subunit	chr19:45853095-45874176	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]	leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma	Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.	RNA Pol II CTD phosphorylation and interaction with CE	GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP	GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERCC2	https://www.uniprot.org/uniprot/P18074	https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126340	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2	rs1799788	0.0269569	0.0500	0.0498	1	0	0	intronic	intronic	intronic	ERCC2	ERCC2	ENSG00000104884	Na	Na	Na	Na	Na	Na	Het;G>A	978;33|43	Hom;G>A	1850;0|67
N	N	-	19	45923653	45923653	A	G	snp	synonymous SNV	T354C	N118N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ERCC1	Ercc1	ENSG00000012061	ERCC excision repair 1, endonuclease non-catalytic subunit	chr19:45910591-45982086	The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]	gastrointestinal toxicity; endometrial cancer ovarian cancer; lung cancer; Leukemia, Myeloid|Myeloid Leukemia; DNA repair capacity; Bone Neoplasms|Hearing Loss|Osteosarcoma; bladder cancer; nucleotide excision repair; Nasopharyngeal Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;; ovarian cancer ; Stomach Neoplasms; gastric carcinoma; Azoospermia; colorectal carcinoma; Chromosome Aberrations|Chromosome abnormality; stomach cancer; esophageal adenocarcinoma; multiple myeloma; Head and Neck Neoplasms; skin cancer, non-melanoma; Neoplasms; Laryngeal Neoplasms; lung cancer ; DNA Damage|Infertility, Male; leukemia; Neutropenia; head and neck cancer; Brain Neoplasms|Glioma; cancer; Biliary Tract Neoplasms; Carcinoma|Nasopharyngeal Neoplasms|Neoplasm Recurrence, Local; Azoospermia|Oligospermia; leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; oral cancer; leukemia; lung cancer; laryngeal cancer; bladder cancer; oral-pharyngeal cancer; Breast Neoplasms|; testicular cancer; chronic obstructive pulmonary disease; drug hypersensitivity leukemia; Adenocarcinoma|Esophageal Neoplasms|Heartburn; Adenocarcinoma|Esophageal Neoplasms; Colorectal Neoplasms; Rectal Neoplasms; smoking; cervical cancer; Lung Neoplasms|Neoplasm of lung ; Peripheral Nervous System Diseases; prostate cancer; Leukemia, Myeloid, Acute; glioma; esophageal cancer ; multiple sclerosis; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; ovarian cancer; chromosomal damage; Chronic renal failure|Kidney Failure, Chronic; Adenocarcinoma|Stomach Neoplasms; endometrial cancer; gastric cancer; breast cancer ; colorectal cancer; melanoma; null; benzene haematotoxicity; cytogenetic studies; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer; epithelial ovarian cancer ; leukemia, acute myeloblastic; kidney cancer; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms	Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress.	Fanconi Anemia Pathway	GO:0000710;meiotic mismatch repair;IBA|GO:0000720;pyrimidine dimer repair by nucleotide-excision repair;IEA|GO:0001302;replicative cell aging;IEA|GO:0006281;DNA repair;IMP|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IDA|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;IMP|GO:0006310;DNA recombination;IGI|GO:0006312;mitotic recombination;IMP|GO:0006949;syncytium formation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007281;germ cell development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007584;response to nutrient;IEA|GO:0008283;cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009650;UV protection;IEA|GO:0009744;response to sucrose;IEA|GO:0010165;response to X-ray;IEA|GO:0010259;multicellular organism aging;IEA|GO:0032205;negative regulation of telomere maintenance;IMP|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035166;post-embryonic hemopoiesis;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045190;isotype switching;IEA|GO:0048468;cell development;IEA|GO:0048477;oogenesis;IEA|GO:0048568;embryonic organ development;IEA|GO:0051276;chromosome organization;IEA|GO:0061819;telomeric DNA-containing double minutes formation;IMP|GO:0070911;global genome nucleotide-excision repair;TAS|GO:0070914;UV-damage excision repair;IBA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090656;t-circle formation;ISS|GO:1904431;positive regulation of t-circle formation;ISS|GO:1905765;negative regulation of protection from non-homologous end joining at telomere;IMP	GO:0000109;nucleotide-excision repair complex;IDA|GO:0000110;nucleotide-excision repair factor 1 complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070522;ERCC4-ERCC1 complex;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IDA|GO:0001094;TFIID-class transcription factor binding;IEA|GO:0003677;DNA binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:1990599;3' overhang single-stranded DNA endodeoxyribonuclease activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ERCC1	https://www.uniprot.org/uniprot/P07992	https://hpo.jax.org/app/browse/search?q=ERCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126380	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC1&submit=Quick%0D%572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC1	rs11615	0.66893	0.5401	0.5085	1	0	0	exonic	exonic	exonic	ERCC1	ERCC1	ENSG00000012061	synonymous SNV	synonymous SNV	unknown	ERCC1:NM_001166049:exon4:c.T354C:p.N118N,ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N,	ERCC1:uc002pbt.2:exon4:c.T354C:p.N118N,ERCC1:uc002pbv.3:exon3:c.T354C:p.N118N,ERCC1:uc002pbs.2:exon4:c.T354C:p.N118N,ERCC1:uc002pbu.2:exon3:c.T138C:p.N46N,	UNKNOWN	Het;A>G	1883;85|90	Hom;A>G	3224;2|118
N	N	-	19	45924362	45924362	G	C	snp	intronic	 	 	 	 	ERCC1	Ercc1	ENSG00000012061	ERCC excision repair 1, endonuclease non-catalytic subunit	chr19:45910591-45982086	The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]	gastrointestinal toxicity; endometrial cancer ovarian cancer; lung cancer; Leukemia, Myeloid|Myeloid Leukemia; DNA repair capacity; Bone Neoplasms|Hearing Loss|Osteosarcoma; bladder cancer; nucleotide excision repair; Nasopharyngeal Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;; ovarian cancer ; Stomach Neoplasms; gastric carcinoma; Azoospermia; colorectal carcinoma; Chromosome Aberrations|Chromosome abnormality; stomach cancer; esophageal adenocarcinoma; multiple myeloma; Head and Neck Neoplasms; skin cancer, non-melanoma; Neoplasms; Laryngeal Neoplasms; lung cancer ; DNA Damage|Infertility, Male; leukemia; Neutropenia; head and neck cancer; Brain Neoplasms|Glioma; cancer; Biliary Tract Neoplasms; Carcinoma|Nasopharyngeal Neoplasms|Neoplasm Recurrence, Local; Azoospermia|Oligospermia; leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; oral cancer; leukemia; lung cancer; laryngeal cancer; bladder cancer; oral-pharyngeal cancer; Breast Neoplasms|; testicular cancer; chronic obstructive pulmonary disease; drug hypersensitivity leukemia; Adenocarcinoma|Esophageal Neoplasms|Heartburn; Adenocarcinoma|Esophageal Neoplasms; Colorectal Neoplasms; Rectal Neoplasms; smoking; cervical cancer; Lung Neoplasms|Neoplasm of lung ; Peripheral Nervous System Diseases; prostate cancer; Leukemia, Myeloid, Acute; glioma; esophageal cancer ; multiple sclerosis; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; ovarian cancer; chromosomal damage; Chronic renal failure|Kidney Failure, Chronic; Adenocarcinoma|Stomach Neoplasms; endometrial cancer; gastric cancer; breast cancer ; colorectal cancer; melanoma; null; benzene haematotoxicity; cytogenetic studies; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer; epithelial ovarian cancer ; leukemia, acute myeloblastic; kidney cancer; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms	Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress.	Fanconi Anemia Pathway	GO:0000710;meiotic mismatch repair;IBA|GO:0000720;pyrimidine dimer repair by nucleotide-excision repair;IEA|GO:0001302;replicative cell aging;IEA|GO:0006281;DNA repair;IMP|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IDA|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;IMP|GO:0006310;DNA recombination;IGI|GO:0006312;mitotic recombination;IMP|GO:0006949;syncytium formation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007281;germ cell development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007584;response to nutrient;IEA|GO:0008283;cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009650;UV protection;IEA|GO:0009744;response to sucrose;IEA|GO:0010165;response to X-ray;IEA|GO:0010259;multicellular organism aging;IEA|GO:0032205;negative regulation of telomere maintenance;IMP|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035166;post-embryonic hemopoiesis;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045190;isotype switching;IEA|GO:0048468;cell development;IEA|GO:0048477;oogenesis;IEA|GO:0048568;embryonic organ development;IEA|GO:0051276;chromosome organization;IEA|GO:0061819;telomeric DNA-containing double minutes formation;IMP|GO:0070911;global genome nucleotide-excision repair;TAS|GO:0070914;UV-damage excision repair;IBA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090656;t-circle formation;ISS|GO:1904431;positive regulation of t-circle formation;ISS|GO:1905765;negative regulation of protection from non-homologous end joining at telomere;IMP	GO:0000109;nucleotide-excision repair complex;IDA|GO:0000110;nucleotide-excision repair factor 1 complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070522;ERCC4-ERCC1 complex;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IDA|GO:0001094;TFIID-class transcription factor binding;IEA|GO:0003677;DNA binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:1990599;3' overhang single-stranded DNA endodeoxyribonuclease activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ERCC1	https://www.uniprot.org/uniprot/P07992	https://hpo.jax.org/app/browse/search?q=ERCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126380	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC1&submit=Quick%0D%572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC1	rs3212948	0.657149	0	0	1	0	0	intronic	intronic	intronic	ERCC1	ERCC1	ENSG00000012061	Na	Na	Na	Na	Na	Na	Het;G>C	82;2|3	Hom;G>C	185;0|6
N	N	-	19	45981815	45981815	G	T	snp	intronic	 	 	 	 	ERCC1	Ercc1	ENSG00000012061	ERCC excision repair 1, endonuclease non-catalytic subunit	chr19:45910591-45982086	The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]	gastrointestinal toxicity; endometrial cancer ovarian cancer; lung cancer; Leukemia, Myeloid|Myeloid Leukemia; DNA repair capacity; Bone Neoplasms|Hearing Loss|Osteosarcoma; bladder cancer; nucleotide excision repair; Nasopharyngeal Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;; ovarian cancer ; Stomach Neoplasms; gastric carcinoma; Azoospermia; colorectal carcinoma; Chromosome Aberrations|Chromosome abnormality; stomach cancer; esophageal adenocarcinoma; multiple myeloma; Head and Neck Neoplasms; skin cancer, non-melanoma; Neoplasms; Laryngeal Neoplasms; lung cancer ; DNA Damage|Infertility, Male; leukemia; Neutropenia; head and neck cancer; Brain Neoplasms|Glioma; cancer; Biliary Tract Neoplasms; Carcinoma|Nasopharyngeal Neoplasms|Neoplasm Recurrence, Local; Azoospermia|Oligospermia; leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; oral cancer; leukemia; lung cancer; laryngeal cancer; bladder cancer; oral-pharyngeal cancer; Breast Neoplasms|; testicular cancer; chronic obstructive pulmonary disease; drug hypersensitivity leukemia; Adenocarcinoma|Esophageal Neoplasms|Heartburn; Adenocarcinoma|Esophageal Neoplasms; Colorectal Neoplasms; Rectal Neoplasms; smoking; cervical cancer; Lung Neoplasms|Neoplasm of lung ; Peripheral Nervous System Diseases; prostate cancer; Leukemia, Myeloid, Acute; glioma; esophageal cancer ; multiple sclerosis; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; ovarian cancer; chromosomal damage; Chronic renal failure|Kidney Failure, Chronic; Adenocarcinoma|Stomach Neoplasms; endometrial cancer; gastric cancer; breast cancer ; colorectal cancer; melanoma; null; benzene haematotoxicity; cytogenetic studies; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer; epithelial ovarian cancer ; leukemia, acute myeloblastic; kidney cancer; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms	Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress.	Fanconi Anemia Pathway	GO:0000710;meiotic mismatch repair;IBA|GO:0000720;pyrimidine dimer repair by nucleotide-excision repair;IEA|GO:0001302;replicative cell aging;IEA|GO:0006281;DNA repair;IMP|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IDA|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;IMP|GO:0006310;DNA recombination;IGI|GO:0006312;mitotic recombination;IMP|GO:0006949;syncytium formation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007281;germ cell development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007584;response to nutrient;IEA|GO:0008283;cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009650;UV protection;IEA|GO:0009744;response to sucrose;IEA|GO:0010165;response to X-ray;IEA|GO:0010259;multicellular organism aging;IEA|GO:0032205;negative regulation of telomere maintenance;IMP|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035166;post-embryonic hemopoiesis;IEA|GO:0035264;multicellular organism growth;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045190;isotype switching;IEA|GO:0048468;cell development;IEA|GO:0048477;oogenesis;IEA|GO:0048568;embryonic organ development;IEA|GO:0051276;chromosome organization;IEA|GO:0061819;telomeric DNA-containing double minutes formation;IMP|GO:0070911;global genome nucleotide-excision repair;TAS|GO:0070914;UV-damage excision repair;IBA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090656;t-circle formation;ISS|GO:1904431;positive regulation of t-circle formation;ISS|GO:1905765;negative regulation of protection from non-homologous end joining at telomere;IMP	GO:0000109;nucleotide-excision repair complex;IDA|GO:0000110;nucleotide-excision repair factor 1 complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070522;ERCC4-ERCC1 complex;IDA	GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IDA|GO:0001094;TFIID-class transcription factor binding;IEA|GO:0003677;DNA binding;IDA|GO:0003684;damaged DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:1990599;3' overhang single-stranded DNA endodeoxyribonuclease activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ERCC1	https://www.uniprot.org/uniprot/P07992	https://hpo.jax.org/app/browse/search?q=ERCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126380	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC1&submit=Quick%0D%572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC1	rs6509214	0.435903	0	0	1	0	0	intergenic	intronic	intronic	FOSB(dist=3378),RTN2(dist=6731)	ERCC1	ENSG00000012061	Na	Na	Na	Na	Na	Na	Het;G>T	129;2|7	Hom;G>T	154;0|7
N	N	-	19	46050760	46050760	T	C	snp	UTR3	*6012A>G	 	 	 	OPA3	Opa3	ENSG00000125741	OPA3, outer mitochondrial membrane lipid metabolism regulator	chr19:46030685-46105470	The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Retinal Diseases; Optic Atrophies, Hereditary|Optic Atrophy, Autosomal Dominant|Optic Atrophy, Hereditary, Leber	Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects.		GO:0007601;visual perception;IEA|GO:0019216;regulation of lipid metabolic process;IEA|GO:0040007;growth;IEA|GO:0050896;response to stimulus;IEA|GO:0050905;neuromuscular process;IEA|GO:0070584;mitochondrion morphogenesis;IEA	GO:0005739;mitochondrion;IEA		http://www.genecards.org/index.php?path=/Search/keyword/OPA3	https://www.uniprot.org/uniprot/Q9H6K4	https://hpo.jax.org/app/browse/search?q=OPA3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606580	http://www.informatics.jax.org/searchtool/Search.do?query=OPA3&submit=Quick%0D%5824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OPA3	rs11083772	0.637979	0	0	1	0	0	UTR3	UTR3	UTR3	OPA3(NM_025136:c.*6012A>G)	OPA3(uc002pck.4:c.*6012A>G,uc010xxk.2:c.*6012A>G)	ENSG00000125741(ENST00000263275:c.*6012A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1749;42|67	Hom;T>C	3134;0|110
N	N	-	19	46121020	46121020	T	C	snp	intronic	 	 	 	 	EML2	Eml2	ENSG00000125746	echinoderm microtubule associated protein like 2	chr19:46110252-46148887			 		GO:0007601;visual perception;TAS|GO:0007605;sensory perception of sound;TAS|GO:0010968;regulation of microtubule nucleation;IDA|GO:0031115;negative regulation of microtubule polymerization;IDA	GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0072686;mitotic spindle;IDA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008022;protein C-terminus binding;IEA|GO:0015631;tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EML2	https://www.uniprot.org/uniprot/O95834		https://www.ncbi.nlm.nih.gov/omim/?term=617494	http://www.informatics.jax.org/searchtool/Search.do?query=EML2&submit=Quick%0D%5827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EML2	rs12985660	0.707069	0.5924	0	1	0	0	intronic	intronic	intronic	EML2	EML2	ENSG00000125746	Na	Na	Na	Na	Na	Na	Het;T>C	402;21|18	Hom;T>C	767;0|24
N	N	-	19	46321539	46321539	G	C	snp	intronic	 	 	 	 	SYMPK	Sympk	ENSG00000125755	symplekin	chr19:46318668-46366548	This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]	Crohn Disease|Crohn's disease	Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis.	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SYMPK	https://www.uniprot.org/uniprot/Q92797		https://www.ncbi.nlm.nih.gov/omim/?term=602388	http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK	rs11670843	0.854832	0	0	1	0	0	intronic	intronic	intronic	SYMPK	SYMPK	ENSG00000125755	Na	Na	Na	Na	Na	Na	Het;G>C	323;1|10	Hom;G>C	227;0|6
N	N	-	19	463810	463811	GC	G	indel	UTR3	*34_*33delinsC	 	 	 	ODF3L2	Odf3l2	ENSG00000181781	outer dense fiber of sperm tails 3 like 2	chr19:463346-474983			 			GO:0005881;cytoplasmic microtubule;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ODF3L2				http://www.informatics.jax.org/searchtool/Search.do?query=ODF3L2&submit=Quick%0D%14668ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3L2	rs398079668	0.890775	0.8250	0.8591	1	0	0	UTR3	UTR3	UTR3	ODF3L2(NM_182577:c.*34_*33delinsC)	ODF3L2(uc002lor.3:c.*34_*33delinsC,uc010drp.3:c.*34_*33delinsC)	ENSG00000181781(ENST00000315489:c.*34_*33delinsC,ENST00000382696:c.*34_*33delinsC)	Na	Na	Na	Na	Na	Na	Het;-C	176;6|8	Hom;-C	433;0|15
N	N	-	19	46405246	46405246	G	A	snp	intronic	 	 	 	 	MYPOP	Mypop	ENSG00000176182	Myb related transcription factor, partner of profilin	chr19:46393278-46405862			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYPOP				http://www.informatics.jax.org/searchtool/Search.do?query=MYPOP&submit=Quick%0D%13815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYPOP	rs59367852	0.315695	0	0	1	0	0	intronic	intronic	intronic	MYPOP	MYPOP	ENSG00000176182	Na	Na	Na	Na	Na	Na	Het;G>A	86;2|5	Hom;G>A	107;0|3
N	N	-	19	46405269	46405269	T	C	snp	intronic	 	 	 	 	MYPOP	Mypop	ENSG00000176182	Myb related transcription factor, partner of profilin	chr19:46393278-46405862			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYPOP				http://www.informatics.jax.org/searchtool/Search.do?query=MYPOP&submit=Quick%0D%13815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYPOP	rs60425101	0.315695	0	0	1	0	0	intronic	intronic	intronic	MYPOP	MYPOP	ENSG00000176182	Na	Na	Na	Na	Na	Na	Het;T>C	53;2|4	Hom;T>C	107;0|3
N	N	-	19	46432714	46432714	C	CAG	indel	intergenic	 	 	 	 	NANOS2	Nanos2	ENSG00000188425	nanos C2HC-type zinc finger 2	chr19:46416475-46418036			Whereas homozygous mutant female mice are fertile and show no morphological or functional abnormalities of the ovaries, the testes of homozygous mutant male mice are reduced in weight and devoid of germ cells. The spermatogenic defects appear to be associated with increased apoptosis.		GO:0006402;mRNA catabolic process;IEA|GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0017148;negative regulation of translation;IDA|GO:0030154;cell differentiation;IEA|GO:0030718;germ-line stem cell population maintenance;IEA|GO:0045835;negative regulation of meiotic nuclear division;IEA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA	GO:0000932;P-body;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NANOS2			https://www.ncbi.nlm.nih.gov/omim/?term=608228	http://www.informatics.jax.org/searchtool/Search.do?query=NANOS2&submit=Quick%0D%16036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NANOS2	rs112409757	0.334265	0	0	1	0	0	intergenic	intergenic	intergenic	NANOS2(dist=14678),NOVA2(dist=10057)	NANOS2(dist=14678),NOVA2(dist=10057)	ENSG00000188425(dist=14678),ENSG00000104967(dist=4278)	Na	Na	Na	Na	Na	Na	Het;+AG	95;5|4	Hom;+AG	94;0|4
N	N	-	19	46518576	46518576	C	T	snp	intronic	 	 	 	 	CCDC61	Ccdc61	ENSG00000104983	coiled-coil domain containing 61	chr19:46498339-46524576		Type 2 Diabetes| edema | rosiglitazone	 			GO:0005813;centrosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC61	https://www.uniprot.org/uniprot/Q9Y6R9			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC61&submit=Quick%0D%3223ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC61	rs74378972	0.0756789	0.0172	0.0706	1	0	0	intronic	intronic	intronic	CCDC61	CCDC61	ENSG00000104983	Na	Na	Na	Na	Na	Na	Het;C>T	545;31|30	Hom;C>T	880;0|35
N	N	-	19	46543249	46543249	T	C	snp	intronic	 	 	 	 	IGFL4		ENSG00000204869	IGF like family member 4	chr19:46543006-46580376	IGFL4 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]					GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGFL4			https://www.ncbi.nlm.nih.gov/omim/?term=610547	http://www.informatics.jax.org/searchtool/Search.do?query=IGFL4&submit=Quick%0D%17410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFL4	rs756401	0.760783	0	0	1	0	0	intronic	intronic	intronic	IGFL4	IGFL4	ENSG00000204869	Na	Na	Na	Na	Na	Na	Het;T>C	346;28|18	Hom;T>C	872;0|32
N	N	-	19	46544307	46544307	T	TA	indel	upstream	 	 	 	 	IGFL4		ENSG00000204869	IGF like family member 4	chr19:46543006-46580376	IGFL4 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]					GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGFL4			https://www.ncbi.nlm.nih.gov/omim/?term=610547	http://www.informatics.jax.org/searchtool/Search.do?query=IGFL4&submit=Quick%0D%17410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFL4	rs138465035	0.00898562	0.0090	0	1	0	0	upstream	upstream	intronic	IGFL4	IGFL4	ENSG00000204869	Na	Na	Na	Na	Na	Na	Het;+A	386;15|14	Hom;+A	669;0|19
N	N	-	19	46580839	46580839	A	G	snp	ncRNA_exonic	 	 	 	 	LOC400706																		rs16980290	0.0515176	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	LOC400706	AK096622	ENSG00000204869	Na	Na	Na	Na	Na	Na	Het;A>G	931;52|46	Hom;A>G	2818;2|97
N	N	-	19	46640551	46640551	C	A	snp	ncRNA_exonic	 	 	 	 	TGIF1P1																		rs1990765	0.562899	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IGFL3(dist=12620),IGFL2(dist=10488)	IGFL3(dist=12620),IGFL2(dist=10488)	ENSG00000259339	Na	Na	Na	Na	Na	Na	Het;C>A	298;3|12	Hom;C>A	286;0|10
N	N	-	19	46663890	46663890	A	G	snp	synonymous SNV	A126G	P42P	hydrophobic,neutral	hydrophobic,neutral	IGFL2	 	ENSG00000204866	IGF like family member 2	chr19:46646363-46664556	IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]		 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGFL2			https://www.ncbi.nlm.nih.gov/omim/?term=610545	http://www.informatics.jax.org/searchtool/Search.do?query=IGFL2&submit=Quick%0D%17409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFL2	rs114285863	0.0515176	0.0295	0.0319	1	0	0	exonic	exonic	exonic	IGFL2	IGFL2	ENSG00000204866	synonymous SNV	synonymous SNV	unknown	IGFL2:NM_001002915:exon4:c.A126G:p.P42P,IGFL2:NM_001135113:exon3:c.A93G:p.P31P,	IGFL2:uc002peb.3:exon4:c.A126G:p.P42P,IGFL2:uc010xxv.2:exon3:c.A93G:p.P31P,	UNKNOWN	Het;A>G	2399;86|112	Hom;A>G	4899;0|186
N	N	-	19	46664400	46664400	A	G	snp	UTR3	*55A>G	 	 	 	IGFL2	 	ENSG00000204866	IGF like family member 2	chr19:46646363-46664556	IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]		 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGFL2			https://www.ncbi.nlm.nih.gov/omim/?term=610545	http://www.informatics.jax.org/searchtool/Search.do?query=IGFL2&submit=Quick%0D%17409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFL2	rs10408162	0.584465	0.6770	0	1	0	0	UTR3	UTR3	ncRNA_intronic	IGFL2(NM_001002915:c.*55A>G,NM_001135113:c.*55A>G)	IGFL2(uc002peb.3:c.*55A>G,uc010xxv.2:c.*55A>G)	ENSG00000267922	Na	Na	Na	Na	Na	Na	Het;A>G	1116;33|50	Hom;A>G	2389;0|87
N	N	-	19	47164986	47164986	G	A	snp	ncRNA_exonic	 	 	 	 	DACT3-AS1																		rs314667	0.721046	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DACT3-AS1	DACT3-AS1	ENSG00000245598	Na	Na	Na	Na	Na	Na	Het;G>A	1366;50|59	Hom;G>A	3099;0|110
N	N	-	19	47228990	47228990	T	C	snp	intronic	 	 	 	 	STRN4	Strn4	ENSG00000090372	striatin 4	chr19:47222764-47250251		Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; Tunica Media; Chronic lymphocytic leukemia	 		GO:0008150;biological_process;ND	GO:0000159;protein phosphatase type 2A complex;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043234;protein complex;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0032403;protein complex binding;IDA|GO:0051721;protein phosphatase 2A binding;IDA|GO:0070016;armadillo repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STRN4	https://www.uniprot.org/uniprot/Q9NRL3		https://www.ncbi.nlm.nih.gov/omim/?term=614767	http://www.informatics.jax.org/searchtool/Search.do?query=STRN4&submit=Quick%0D%2095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STRN4	rs3848529	0.409545	0	0	1	0	0	intronic	intronic	intronic	STRN4	STRN4	ENSG00000090372	Na	Na	Na	Na	Na	Na	Het;T>C	350;12|16	Hom;T>C	595;0|13
N	N	-	19	47236268	47236268	G	C	snp	intronic	 	 	 	 	STRN4	Strn4	ENSG00000090372	striatin 4	chr19:47222764-47250251		Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Type 2 Diabetes| edema | rosiglitazone; Tunica Media; Chronic lymphocytic leukemia	 		GO:0008150;biological_process;ND	GO:0000159;protein phosphatase type 2A complex;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043234;protein complex;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0032403;protein complex binding;IDA|GO:0051721;protein phosphatase 2A binding;IDA|GO:0070016;armadillo repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STRN4	https://www.uniprot.org/uniprot/Q9NRL3		https://www.ncbi.nlm.nih.gov/omim/?term=614767	http://www.informatics.jax.org/searchtool/Search.do?query=STRN4&submit=Quick%0D%2095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STRN4	rs11666600	0.358626	0.3249	0.3470	1	0	0	intronic	intronic	intronic	STRN4	STRN4	ENSG00000090372	Na	Na	Na	Na	Na	Na	Het;G>C	204;10|8	Hom;G>C	841;2|29
N	N	-	19	47548327	47548327	A	T	snp	intronic	 	 	 	 	NPAS1	Npas1	ENSG00000130751	neuronal PAS domain protein 1	chr19:47523077-47549033	The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]		 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001964;startle response;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007417;central nervous system development;TAS|GO:0042711;maternal behavior;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NPAS1	https://www.uniprot.org/uniprot/Q99742		https://www.ncbi.nlm.nih.gov/omim/?term=603346	http://www.informatics.jax.org/searchtool/Search.do?query=NPAS1&submit=Quick%0D%6434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAS1	rs10423289	0.875799	0	0	1	0	0	intronic	intronic	intronic	NPAS1	NPAS1	ENSG00000130751	Na	Na	Na	Na	Na	Na	Het;A>T	131;2|5	Hom;A>T	86;0|4
N	N	-	19	47584699	47584699	C	T	snp	intronic	 	 	 	 	ZC3H4	Zc3h4	ENSG00000130749	zinc finger CCCH-type containing 4	chr19:47567444-47617009	This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]	Body Mass Index	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and failure of blastocysts to hatch from the zona pellucida and form typical outgrowth colonies.				GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H4	https://www.uniprot.org/uniprot/Q9UPT8			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H4&submit=Quick%0D%6433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H4	rs3745619	0.483626	0	0	1	0	0	intronic	intronic	intronic	ZC3H4	ZC3H4	ENSG00000130749	Na	Na	Na	Na	Na	Na	Het;C>T	401;10|19	Hom;C>T	1057;0|37
N	N	-	19	47585517	47585517	G	C	snp	synonymous SNV	C1254G	L418L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZC3H4	Zc3h4	ENSG00000130749	zinc finger CCCH-type containing 4	chr19:47567444-47617009	This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]	Body Mass Index	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and failure of blastocysts to hatch from the zona pellucida and form typical outgrowth colonies.				GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H4	https://www.uniprot.org/uniprot/Q9UPT8			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H4&submit=Quick%0D%6433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H4	rs7250850	0.374601	0.5532	0.5761	1	0	0	exonic	exonic	exonic	ZC3H4	ZC3H4	ENSG00000130749	synonymous SNV	synonymous SNV	unknown	ZC3H4:NM_015168:exon10:c.C1254G:p.L418L,	ZC3H4:uc002pga.4:exon10:c.C1254G:p.L418L,	UNKNOWN	Het;G>C	990;45|45	Hom;G>C	1833;0|66
N	N	-	19	47587772	47587772	G	A	snp	intronic	 	 	 	 	ZC3H4	Zc3h4	ENSG00000130749	zinc finger CCCH-type containing 4	chr19:47567444-47617009	This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]	Body Mass Index	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and failure of blastocysts to hatch from the zona pellucida and form typical outgrowth colonies.				GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H4	https://www.uniprot.org/uniprot/Q9UPT8			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H4&submit=Quick%0D%6433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H4	rs2303107	0.375399	0	0	1	0	0	intronic	intronic	intronic	ZC3H4	ZC3H4	ENSG00000130749	Na	Na	Na	Na	Na	Na	Het;G>A	253;15|13	Hom;G>A	445;0|18
N	N	-	19	47588202	47588202	G	T	snp	intronic	 	 	 	 	ZC3H4	Zc3h4	ENSG00000130749	zinc finger CCCH-type containing 4	chr19:47567444-47617009	This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]	Body Mass Index	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and failure of blastocysts to hatch from the zona pellucida and form typical outgrowth colonies.				GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H4	https://www.uniprot.org/uniprot/Q9UPT8			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H4&submit=Quick%0D%6433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H4	rs7248181	0.375399	0	0	1	0	0	intronic	intronic	intronic	ZC3H4	ZC3H4	ENSG00000130749	Na	Na	Na	Na	Na	Na	Het;G>T	459;15|18	Hom;G>T	873;1|31
N	N	-	19	47589895	47589895	T	C	snp	intronic	 	 	 	 	ZC3H4	Zc3h4	ENSG00000130749	zinc finger CCCH-type containing 4	chr19:47567444-47617009	This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]	Body Mass Index	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and failure of blastocysts to hatch from the zona pellucida and form typical outgrowth colonies.				GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H4	https://www.uniprot.org/uniprot/Q9UPT8			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H4&submit=Quick%0D%6433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H4	rs2303108	0.49381	0	0	1	0	0	intronic	intronic	intronic	ZC3H4	ZC3H4	ENSG00000130749	Na	Na	Na	Na	Na	Na	Het;T>C	141;9|8	Hom;T>C	972;0|39
N	N	-	19	47597102	47597102	T	C	snp	intronic	 	 	 	 	ZC3H4	Zc3h4	ENSG00000130749	zinc finger CCCH-type containing 4	chr19:47567444-47617009	This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]	Body Mass Index	Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and failure of blastocysts to hatch from the zona pellucida and form typical outgrowth colonies.				GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H4	https://www.uniprot.org/uniprot/Q9UPT8			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H4&submit=Quick%0D%6433ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H4	rs10408163	0.375599	0	0	1	0	0	intronic	intronic	intronic	ZC3H4	ZC3H4	ENSG00000130749	Na	Na	Na	Na	Na	Na	Het;T>C	167;7|7	Hom;T>C	559;0|17
N	N	-	19	4760133	4760133	A	ACT	indel	intergenic	 	 	 	 	ENSG00000266209																		rs10645330	0.369609	0	0	1	0	0	intergenic	intergenic	intergenic	DPP9(dist=36278),MIR7-3HG(dist=8984)	TRNA_Val(dist=35414),MIR7-3HG(dist=8984)	ENSG00000266209(dist=33742),ENSG00000176840(dist=8984)	Na	Na	Na	Na	Na	Na	Het;+CT	76;2|3	Hom;+CT	261;0|7
N	N	-	19	47634313	47634313	T	G	snp	unknown	 	 	 	 	SAE1	Sae1	ENSG00000142230	SUMO1 activating enzyme subunit 1	chr19:47616531-47713886	Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]	Multiple Sclerosis	 	SUMO is transferred from E1 to E2 (UBE2I, UBC9)	GO:0006464;cellular protein modification process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016925;protein sumoylation;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0031510;SUMO activating enzyme complex;IDA	GO:0004839;ubiquitin activating enzyme activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IDA|GO:0008047;enzyme activator activity;TAS|GO:0008641;small protein activating enzyme activity;IEA|GO:0016874;ligase activity;IEA|GO:0019948;SUMO activating enzyme activity;IDA|GO:0043008;ATP-dependent protein binding;IDA|GO:0044388;small protein activating enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SAE1	https://www.uniprot.org/uniprot/Q9UBE0		https://www.ncbi.nlm.nih.gov/omim/?term=613294	http://www.informatics.jax.org/searchtool/Search.do?query=SAE1&submit=Quick%0D%8267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAE1	rs177918	0.922524	0.9266	0.9006	1	0	0	intronic	UTR5	exonic	SAE1	SAE1(uc002pge.3:c.-12532T>G)	ENSG00000142230	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>G	356;36|23	Hom;T>G	1350;0|48
N	N	-	19	47761543	47761543	T	C	snp	UTR5	-115T>C	 	 	 	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs2302985	0.622204	0	0	1	0	0	intronic	intronic	UTR5	CCDC9	CCDC9	ENSG00000105321(ENST00000596938:c.-115T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	100;9|5	Hom;T>C	403;0|16
N	N	-	19	47762093	47762093	T	C	snp	intronic	 	 	 	 	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs1549176	0.511182	0	0	1	0	0	intronic	intronic	intronic	CCDC9	CCDC9	ENSG00000105321	Na	Na	Na	Na	Na	Na	Het;T>C	125;8|5	Hom;T>C	437;0|11
N	N	-	19	47768128	47768128	G	C	snp	nonsynonymous SNV	G645C	E215D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs2032811	0.638179	0.5494	0.5912	0.08	1	13	exonic	exonic	exonic	CCDC9	CCDC9	ENSG00000105321	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC9:NM_015603:exon7:c.G645C:p.E215D,	CCDC9:uc010xym.2:exon7:c.G645C:p.E215D,	UNKNOWN	Het;G>C	769;32|32	Hom;G>C	2044;0|69
N	N	-	19	47769839	47769839	A	G	snp	intronic	 	 	 	 	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs9304666	0.534145	0.3990	0.5032	1	0	0	intronic	intronic	intronic	CCDC9	CCDC9	ENSG00000105321	Na	Na	Na	Na	Na	Na	Het;A>G	506;25|26	Hom;A>G	758;0|27
N	N	-	19	47770015	47770015	A	C	snp	synonymous SNV	A868C	R290R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs10413121	0.511981	0.3932	0.5221	1	0	0	exonic	exonic	exonic	CCDC9	CCDC9	ENSG00000105321	synonymous SNV	synonymous SNV	unknown	CCDC9:NM_015603:exon8:c.A868C:p.R290R,	CCDC9:uc010xym.2:exon8:c.A868C:p.R290R,	UNKNOWN	Het;A>C	1067;57|54	Hom;A>C	2535;0|99
N	N	-	19	47773786	47773786	A	G	snp	intronic	 	 	 	 	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs888838	0.51258	0.3969	0.5009	1	0	0	intronic	intronic	intronic	CCDC9	CCDC9	ENSG00000105321	Na	Na	Na	Na	Na	Na	Het;A>G	1020;64|48	Hom;A>G	2409;0|89
N	N	-	19	47773973	47773973	T	C	snp	intronic	 	 	 	 	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs888837	0.512181	0.3838	0.5186	1	0	0	intronic	intronic	intronic	CCDC9	CCDC9	ENSG00000105321	Na	Na	Na	Na	Na	Na	Het;T>C	249;13|9	Hom;T>C	318;0|10
N	N	-	19	47774447	47774447	G	A	snp	intronic	 	 	 	 	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs66726054	0.51238	0.3965	0.5521	1	0	0	intronic	intronic	intronic	CCDC9	CCDC9	ENSG00000105321	Na	Na	Na	Na	Na	Na	Het;G>A	1437;90|72	Hom;G>A	4466;0|168
N	N	-	19	47774572	47774572	C	T	snp	synonymous SNV	C1233T	D411D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs60930438	0.51238	0.3964	0.5122	1	0	0	exonic	exonic	exonic	CCDC9	CCDC9	ENSG00000105321	synonymous SNV	synonymous SNV	unknown	CCDC9:NM_015603:exon12:c.C1233T:p.D411D,	CCDC9:uc010xym.2:exon12:c.C1233T:p.D411D,	UNKNOWN	Het;C>T	1435;75|70	Hom;C>T	3659;0|139
N	N	-	19	47774772	47774772	T	C	snp	nonsynonymous SNV	T1433C	L478P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CCDC9	Ccdc9	ENSG00000105321	coiled-coil domain containing 9	chr19:47759237-47775210			 				GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC9	https://www.uniprot.org/uniprot/Q9Y3X0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9	rs888836	0.511981	0.3967	0.5011	0.08	1	13	exonic	exonic	exonic	CCDC9	CCDC9	ENSG00000105321	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC9:NM_015603:exon12:c.T1433C:p.L478P,	CCDC9:uc010xym.2:exon12:c.T1433C:p.L478P,	UNKNOWN	Het;T>C	1495;55|69	Hom;T>C	3201;0|114
N	N	-	19	47777661	47777661	C	T	snp	upstream	 	 	 	 	PRR24	 																	rs3745607	0.51238	0	0	1	0	0	upstream	upstream	upstream	INAFM1	PRR24	ENSG00000257704	Na	Na	Na	Na	Na	Na	Het;C>T	519;16|25	Hom;C>T	1032;0|39
N	N	-	19	47778221	47778221	A	C	snp	synonymous SNV	A45C	G15G	aliphatic,neutral	aliphatic,neutral	PRR24	 																	rs10407367	0.635783	0	0.6157	1	0	0	exonic	exonic	exonic	INAFM1	PRR24	ENSG00000257704	synonymous SNV	synonymous SNV	unknown	INAFM1:NM_178511:exon1:c.A45C:p.G15G,	PRR24:uc002pgi.3:exon1:c.A45C:p.G15G,	UNKNOWN	Het;A>C	50;3|4	Hom;A>C	219;0|10
N	N	-	19	47950295	47950295	C	T	snp	intronic	 	 	 	 	SLC8A2	Slc8a2	ENSG00000118160	solute carrier family 8 member A2	chr19:47931274-47975425		Type 2 Diabetes| edema | rosiglitazone	The clearance of elevated calcium following depolarization is delayed in homozygous mutant mice, which exhibit enhanced learning and memory.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007154;cell communication;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0048172;regulation of short-term neuronal synaptic plasticity;IEA|GO:0055085;transmembrane transport;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA	GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0015297;antiporter activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC8A2	https://www.uniprot.org/uniprot/Q9UPR5		https://www.ncbi.nlm.nih.gov/omim/?term=601901	http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A2&submit=Quick%0D%4945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A2	rs10417870	0.163538	0	0	1	0	0	intronic	intronic	intronic	SLC8A2	SLC8A2	ENSG00000118160	Na	Na	Na	Na	Na	Na	Het;C>T	77;2|4	Hom;C>T	57;0|3
N	N	-	19	47969748	47969748	C	T	snp	intronic	 	 	 	 	SLC8A2	Slc8a2	ENSG00000118160	solute carrier family 8 member A2	chr19:47931274-47975425		Type 2 Diabetes| edema | rosiglitazone	The clearance of elevated calcium following depolarization is delayed in homozygous mutant mice, which exhibit enhanced learning and memory.	Ion homeostasis	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007154;cell communication;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0048172;regulation of short-term neuronal synaptic plasticity;IEA|GO:0055085;transmembrane transport;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA	GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0015297;antiporter activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC8A2	https://www.uniprot.org/uniprot/Q9UPR5		https://www.ncbi.nlm.nih.gov/omim/?term=601901	http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A2&submit=Quick%0D%4945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A2	rs830131	0.618211	0	0	1	0	0	intronic	intronic	intronic	SLC8A2	SLC8A2	ENSG00000118160	Na	Na	Na	Na	Na	Na	Het;C>T	196;8|8	Hom;C>T	361;0|12
N	N	-	19	47980153	47980153	G	A	snp	synonymous SNV	C906T	P302P	hydrophobic,neutral	hydrophobic,neutral	KPTN	Kptn	ENSG00000118162	kaptin, actin binding protein	chr19:47978401-47987525	This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]	Macrocephaly Neurodevelopmental Delay and Seizures	Mice homozygous for a knock-out allele exhibit increased body weight, increased susceptibility to bacterial infection and abnormal homeostasis.		GO:0007015;actin filament organization;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0042149;cellular response to glucose starvation;IMP|GO:0061462;protein localization to lysosome;IMP|GO:1904262;negative regulation of TORC1 signaling;IMP	GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0030027;lamellipodium;IDA|GO:0030426;growth cone;IEA|GO:0031941;filamentous actin;IDA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0098871;postsynaptic actin cytoskeleton;IDA|GO:0140007;KICSTOR complex;IDA	GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KPTN	https://www.uniprot.org/uniprot/Q9Y664	https://hpo.jax.org/app/browse/search?q=KPTN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615620	http://www.informatics.jax.org/searchtool/Search.do?query=KPTN&submit=Quick%0D%4946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KPTN	rs2293424	0.346046	0.3510	0.4752	1	0	0	exonic	exonic	exonic	KPTN	KPTN	ENSG00000118162	synonymous SNV	synonymous SNV	unknown	KPTN:NM_001291296:exon8:c.C738T:p.P246P,KPTN:NM_007059:exon10:c.C906T:p.P302P,	KPTN:uc002pgy.3:exon10:c.C906T:p.P302P,	UNKNOWN	Het;G>A	1399;29|59	Hom;G>A	3144;0|108
N	N	-	19	48034780	48034780	G	A	snp	intronic	 	 	 	 	ZNF541	Zfp541	ENSG00000118156	zinc finger protein 541	chr19:48023942-48059113			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF541	https://www.uniprot.org/uniprot/Q9H0D2			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF541&submit=Quick%0D%4944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF541	rs16972294	0.420128	0	0	1	0	0	intronic	intronic	intronic	ZNF541	ZNF541	ENSG00000118156	Na	Na	Na	Na	Na	Na	Het;G>A	224;6|10	Hom;G>A	368;0|12
N	N	-	19	48272052	48272052	T	A	snp	ncRNA_exonic	 	 	 	 	NOP53-AS1																		rs8101799	0.0816693	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	GLTSCR2(dist=11729),SEPW1(dist=9790)	GLTSCR2(dist=11617),SEPW1(dist=9790)	ENSG00000269656	Na	Na	Na	Na	Na	Na	Het;T>A	460;17|20	Hom;T>A	1122;0|42
N	N	-	19	48305638	48305650	TGGGCCTGGGATC	T	indel	nonframeshift substitution	618_630A	 	 	 	TPRX1		ENSG00000178928	tetrapeptide repeat homeobox 1	chr19:48304500-48322308	Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]				GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TPRX1			https://www.ncbi.nlm.nih.gov/omim/?term=611166	http://www.informatics.jax.org/searchtool/Search.do?query=TPRX1&submit=Quick%0D%14254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPRX1	rs781226540	0	0.1257	0.0931	1	0	0	exonic	exonic	exonic	TPRX1	TPRX1	ENSG00000178928	nonframeshift substitution	nonframeshift substitution	unknown	TPRX1:NM_198479:exon2:c.618_630A,	TPRX1:uc002php.2:exon2:c.618_630A,	UNKNOWN	Het;-GGGCCTGGGATC	546;19|17	Hom;-GGGCCTGGGATC	1961;0|45
N	N	-	19	48317253	48317253	A	C	snp	intronic	 	 	 	 	TPRX1		ENSG00000178928	tetrapeptide repeat homeobox 1	chr19:48304500-48322308	Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]				GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TPRX1			https://www.ncbi.nlm.nih.gov/omim/?term=611166	http://www.informatics.jax.org/searchtool/Search.do?query=TPRX1&submit=Quick%0D%14254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPRX1	rs62131909	0.1875	0	0	1	0	0	intergenic	intergenic	intronic	TPRX1(dist=10392),CRX(dist=7846)	TPRX1(dist=10323),CRX(dist=7846)	ENSG00000178928	Na	Na	Na	Na	Na	Na	Het;A>C	145;3|7	Hom;A>C	184;0|8
N	N	-	19	48512121	48512121	G	A	snp	intronic	 	 	 	 	ELSPBP1		ENSG00000169393	epididymal sperm binding protein 1	chr19:48497908-48528410	The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]	Intelligence; Body Mass Index			GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IBA	GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IBA	GO:0008201;heparin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELSPBP1			https://www.ncbi.nlm.nih.gov/omim/?term=607443	http://www.informatics.jax.org/searchtool/Search.do?query=ELSPBP1&submit=Quick%0D%12483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELSPBP1	rs7249129	0.517772	0	0	1	0	0	intronic	intronic	intronic	ELSPBP1	ELSPBP1	ENSG00000169393	Na	Na	Na	Na	Na	Na	Het;G>A	157;6|6	Hom;G>A	165;0|5
N	N	-	19	48522894	48522894	C	G	snp	intronic	 	 	 	 	ELSPBP1		ENSG00000169393	epididymal sperm binding protein 1	chr19:48497908-48528410	The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]	Intelligence; Body Mass Index			GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IBA	GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IBA	GO:0008201;heparin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELSPBP1			https://www.ncbi.nlm.nih.gov/omim/?term=607443	http://www.informatics.jax.org/searchtool/Search.do?query=ELSPBP1&submit=Quick%0D%12483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELSPBP1	rs2115100	0.526757	0	0	1	0	0	intronic	intronic	intronic	ELSPBP1	ELSPBP1	ENSG00000169393	Na	Na	Na	Na	Na	Na	Het;C>G	38;5|3	Hom;C>G	612;0|20
N	N	-	19	48523197	48523197	C	A	snp	intronic	 	 	 	 	ELSPBP1		ENSG00000169393	epididymal sperm binding protein 1	chr19:48497908-48528410	The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]	Intelligence; Body Mass Index			GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IBA	GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IBA	GO:0008201;heparin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELSPBP1			https://www.ncbi.nlm.nih.gov/omim/?term=607443	http://www.informatics.jax.org/searchtool/Search.do?query=ELSPBP1&submit=Quick%0D%12483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELSPBP1	rs2303691	0.564497	0	0	1	0	0	intronic	intronic	intronic	ELSPBP1	ELSPBP1	ENSG00000169393	Na	Na	Na	Na	Na	Na	Het;C>A	542;30|27	Hom;C>A	852;0|31
N	N	-	19	48525507	48525507	G	A	snp	nonsynonymous SNV	G595A	E199K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ELSPBP1		ENSG00000169393	epididymal sperm binding protein 1	chr19:48497908-48528410	The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]	Intelligence; Body Mass Index			GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IBA	GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IBA	GO:0008201;heparin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELSPBP1			https://www.ncbi.nlm.nih.gov/omim/?term=607443	http://www.informatics.jax.org/searchtool/Search.do?query=ELSPBP1&submit=Quick%0D%12483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELSPBP1	rs2303690	0.685304	0.5827	0.6144	0.08	1	13	exonic	exonic	exonic	ELSPBP1	ELSPBP1	ENSG00000169393	nonsynonymous SNV	nonsynonymous SNV	unknown	ELSPBP1:NM_022142:exon6:c.G595A:p.E199K,	ELSPBP1:uc002pht.3:exon6:c.G595A:p.E199K,	UNKNOWN	Het;G>A	856;69|45	Hom;G>A	3158;0|114
N	N	-	19	48565587	48565587	G	A	snp	ncRNA_intronic	 	 	 	 	PLA2G4C-AS1																		rs3826830	0.376198	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PLA2G4C	PLA2G4C	ENSG00000269420	Na	Na	Na	Na	Na	Na	Het;G>A	250;11|12	Hom;G>A	623;0|19
N	N	-	19	48601593	48601593	A	AT	indel	intronic	 	 	 	 	PLA2G4C	Pla2g4c	ENSG00000105499	phospholipase A2 group IVC	chr19:48551100-48614074	This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]	schizophrenia; HIV; Type 2 Diabetes| edema | rosiglitazone; Premature Birth	 	Hydrolysis of LPE	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006954;inflammatory response;NAS|GO:0007567;parturition;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0046475;glycerophospholipid catabolic process;IDA	GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA	GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005543;phospholipid binding;NAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4C	https://www.uniprot.org/uniprot/Q9UP65		https://www.ncbi.nlm.nih.gov/omim/?term=603602	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4C&submit=Quick%0D%3318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4C	rs11432234	0.638379	0	0	1	0	0	intronic	intronic	intronic	PLA2G4C	PLA2G4C	ENSG00000105499	Na	Na	Na	Na	Na	Na	Het;+T	226;3|13	Hom;+T	300;0|12
N	N	-	19	48711789	48711789	T	G	snp	UTR3	*3471A>C	 	 	 	CARD8	 	ENSG00000105483	caspase recruitment domain family member 8	chr19:48684027-48759203	The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]	Leukemia, Lymphocytic, Chronic, B-Cell; Arthritis, Rheumatoid; Alzheimer's disease ; Crohn Disease|; Crohn Disease|Crohn's disease; longevity; antibody formation Crohn's disease ulcerative colitis; colorectal cancer; Arthritis; rheumatoid arthritis; esophageal adenocarcinoma; Tobacco Use Disorder; Bacterial Infections; Crohn's disease ulcerative colitis	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0072559;NLRP3 inflammasome complex;IDA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0032089;NACHT domain binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CARD8	https://www.uniprot.org/uniprot/Q9Y2G2		https://www.ncbi.nlm.nih.gov/omim/?term=609051	http://www.informatics.jax.org/searchtool/Search.do?query=CARD8&submit=Quick%0D%3314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD8	rs1968441	0.782548	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	CARD8(NM_001184902:c.*3471A>C,NM_001184901:c.*3178A>C,NM_001184903:c.*3471A>C,NM_014959:c.*3178A>C,NM_001184900:c.*3178A>C)	CARD8(uc010els.3:c.*3471A>C,uc010xzk.2:c.*3178A>C,uc010xzj.2:c.*3178A>C,uc002pie.4:c.*3178A>C,uc002pif.4:c.*3471A>C,uc021uwq.1:c.*3178A>C,uc021uwr.1:c.*3471A>C,uc002pig.4:c.*3178A>C,uc031rlm.1:c.*3178A>C,uc002pih.4:c.*3178A>C,uc010xzl.2:c.*3178A>C,uc010xzm.2:c.*3471A>C,uc002pii.4:c.*3471A>C)	ENSG00000268583	Na	Na	Na	Na	Na	Na	Het;T>G	1756;77|75	Hom;T>G	4119;0|145
N	N	-	19	48711902	48711902	A	G	snp	UTR3	*3358T>C	 	 	 	CARD8	 	ENSG00000105483	caspase recruitment domain family member 8	chr19:48684027-48759203	The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]	Leukemia, Lymphocytic, Chronic, B-Cell; Arthritis, Rheumatoid; Alzheimer's disease ; Crohn Disease|; Crohn Disease|Crohn's disease; longevity; antibody formation Crohn's disease ulcerative colitis; colorectal cancer; Arthritis; rheumatoid arthritis; esophageal adenocarcinoma; Tobacco Use Disorder; Bacterial Infections; Crohn's disease ulcerative colitis	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0072559;NLRP3 inflammasome complex;IDA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0032089;NACHT domain binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CARD8	https://www.uniprot.org/uniprot/Q9Y2G2		https://www.ncbi.nlm.nih.gov/omim/?term=609051	http://www.informatics.jax.org/searchtool/Search.do?query=CARD8&submit=Quick%0D%3314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD8	rs1968440	0.778954	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	CARD8(NM_001184902:c.*3358T>C,NM_001184901:c.*3065T>C,NM_001184903:c.*3358T>C,NM_014959:c.*3065T>C,NM_001184900:c.*3065T>C)	CARD8(uc010els.3:c.*3358T>C,uc010xzk.2:c.*3065T>C,uc010xzj.2:c.*3065T>C,uc002pie.4:c.*3065T>C,uc002pif.4:c.*3358T>C,uc021uwq.1:c.*3065T>C,uc021uwr.1:c.*3358T>C,uc002pig.4:c.*3065T>C,uc031rlm.1:c.*3065T>C,uc002pih.4:c.*3065T>C,uc010xzl.2:c.*3065T>C,uc010xzm.2:c.*3358T>C,uc002pii.4:c.*3358T>C)	ENSG00000268583	Na	Na	Na	Na	Na	Na	Het;A>G	1444;52|41	Hom;A>G	2961;0|83
N	N	-	19	48712031	48712031	A	G	snp	UTR3	*3229T>C	 	 	 	CARD8	 	ENSG00000105483	caspase recruitment domain family member 8	chr19:48684027-48759203	The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]	Leukemia, Lymphocytic, Chronic, B-Cell; Arthritis, Rheumatoid; Alzheimer's disease ; Crohn Disease|; Crohn Disease|Crohn's disease; longevity; antibody formation Crohn's disease ulcerative colitis; colorectal cancer; Arthritis; rheumatoid arthritis; esophageal adenocarcinoma; Tobacco Use Disorder; Bacterial Infections; Crohn's disease ulcerative colitis	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0072559;NLRP3 inflammasome complex;IDA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0032089;NACHT domain binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CARD8	https://www.uniprot.org/uniprot/Q9Y2G2		https://www.ncbi.nlm.nih.gov/omim/?term=609051	http://www.informatics.jax.org/searchtool/Search.do?query=CARD8&submit=Quick%0D%3314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD8	rs4433919	0.831869	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	CARD8(NM_001184902:c.*3229T>C,NM_001184901:c.*2936T>C,NM_001184903:c.*3229T>C,NM_014959:c.*2936T>C,NM_001184900:c.*2936T>C)	CARD8(uc010els.3:c.*3229T>C,uc010xzk.2:c.*2936T>C,uc010xzj.2:c.*2936T>C,uc002pie.4:c.*2936T>C,uc002pif.4:c.*3229T>C,uc021uwq.1:c.*2936T>C,uc021uwr.1:c.*3229T>C,uc002pig.4:c.*2936T>C,uc031rlm.1:c.*2936T>C,uc002pih.4:c.*2936T>C,uc010xzl.2:c.*2936T>C,uc010xzm.2:c.*3229T>C,uc002pii.4:c.*3229T>C)	ENSG00000268583	Na	Na	Na	Na	Na	Na	Het;A>G	115;4|4	Hom;A>G	219;0|6
N	N	-	19	48712614	48712614	G	C	snp	UTR3	*2646C>G	 	 	 	CARD8	 	ENSG00000105483	caspase recruitment domain family member 8	chr19:48684027-48759203	The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]	Leukemia, Lymphocytic, Chronic, B-Cell; Arthritis, Rheumatoid; Alzheimer's disease ; Crohn Disease|; Crohn Disease|Crohn's disease; longevity; antibody formation Crohn's disease ulcerative colitis; colorectal cancer; Arthritis; rheumatoid arthritis; esophageal adenocarcinoma; Tobacco Use Disorder; Bacterial Infections; Crohn's disease ulcerative colitis	Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0072559;NLRP3 inflammasome complex;IDA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0032089;NACHT domain binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CARD8	https://www.uniprot.org/uniprot/Q9Y2G2		https://www.ncbi.nlm.nih.gov/omim/?term=609051	http://www.informatics.jax.org/searchtool/Search.do?query=CARD8&submit=Quick%0D%3314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD8	rs1971785	0.831669	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	CARD8(NM_001184902:c.*2646C>G,NM_001184901:c.*2353C>G,NM_001184903:c.*2646C>G,NM_014959:c.*2353C>G,NM_001184900:c.*2353C>G)	CARD8(uc010els.3:c.*2646C>G,uc010xzk.2:c.*2353C>G,uc010xzj.2:c.*2353C>G,uc002pie.4:c.*2353C>G,uc002pif.4:c.*2646C>G,uc021uwq.1:c.*2353C>G,uc021uwr.1:c.*2646C>G,uc002pig.4:c.*2353C>G,uc031rlm.1:c.*2353C>G,uc002pih.4:c.*2353C>G,uc010xzl.2:c.*2353C>G,uc010xzm.2:c.*2646C>G,uc002pii.4:c.*2646C>G)	ENSG00000268583	Na	Na	Na	Na	Na	Na	Het;G>C	689;20|28	Hom;G>C	945;0|33
N	N	-	19	48715269	48715269	T	C	snp	ncRNA_intronic	 	 	 	 	AC011466.1																		rs2008521	0.816893	0.8512	0.8695	1	0	0	intronic	intronic	ncRNA_intronic	CARD8	CARD8	ENSG00000268583	Na	Na	Na	Na	Na	Na	Het;T>C	186;21|9	Hom;T>C	649;0|23
N	N	-	19	49300605	49300605	T	C	snp	intronic	 	 	 	 	BCAT2	Bcat2	ENSG00000105552	branched chain amino acid transaminase 2	chr19:49298319-49314286	This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Acquired Immunodeficiency Syndrome|Disease Progression	The metabolism of branched chain amino acid is impaired in homozygous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet.	Branched-chain amino acid catabolism	GO:0006549;isoleucine metabolic process;IEA|GO:0006550;isoleucine catabolic process;IEA|GO:0006551;leucine metabolic process;IEA|GO:0006573;valine metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009081;branched-chain amino acid metabolic process;IEA|GO:0009082;branched-chain amino acid biosynthetic process;TAS|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0009098;leucine biosynthetic process;IBA|GO:0009099;valine biosynthetic process;IBA|GO:0010817;regulation of hormone levels;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0004084;branched-chain-amino-acid transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0052654;L-leucine transaminase activity;IEA|GO:0052655;L-valine transaminase activity;IEA|GO:0052656;L-isoleucine transaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCAT2	https://www.uniprot.org/uniprot/O15382		https://www.ncbi.nlm.nih.gov/omim/?term=113530	http://www.informatics.jax.org/searchtool/Search.do?query=BCAT2&submit=Quick%0D%3331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAT2	rs526744	0.729433	0.7840	0.7404	1	0	0	intronic	intronic	intronic	BCAT2	BCAT2	ENSG00000105552	Na	Na	Na	Na	Na	Na	Het;T>C	1038;35|46	Hom;T>C	2222;0|87
N	N	-	19	49416936	49416936	C	T	snp	ncRNA_intronic	 	 	 	 	NUCB1-AS1																		rs746075	0.235623	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NUCB1-AS1	NUCB1	ENSG00000235191	Na	Na	Na	Na	Na	Na	Het;C>T	166;5|7	Hom;C>T	192;0|6
N	N	-	19	49557482	49557482	C	T	snp	downstream	 	 	 	 	CGB7		ENSG00000196337	chorionic gonadotropin beta subunit 7	chr19:49557531-49562117	This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]				GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007292;female gamete generation;TAS	GO:0005576;extracellular region;IEA	GO:0005179;hormone activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CGB7			https://www.ncbi.nlm.nih.gov/omim/?term=608826	http://www.informatics.jax.org/searchtool/Search.do?query=CGB7&submit=Quick%0D%16323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CGB7	rs34428621	0.391174	0	0	1	0	0	downstream	intronic	downstream	CGB7	CGB8	ENSG00000196337	Na	Na	Na	Na	Na	Na	Het;C>T	675;43|34	Hom;C>T	1218;1|49
N	N	-	19	49644840	49644840	C	CGTGT	indel	intronic	 	 	 	 	PPFIA3	Ppfia3	ENSG00000177380	PTPRF interacting protein alpha 3	chr19:49622646-49654283	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]		 	Receptor-type tyrosine-protein phosphatases	GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS|GO:0048172;regulation of short-term neuronal synaptic plasticity;ISS	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098875;epididymosome;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPFIA3			https://www.ncbi.nlm.nih.gov/omim/?term=603144	http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA3&submit=Quick%0D%14014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA3	rs112961847	0	0	0	1	0	0	intronic	intronic	intronic	PPFIA3	PPFIA3	ENSG00000177380	Na	Na	Na	Na	Na	Na	Het;+GTGT	378;9|12	Hom;+GTGT	413;0|10
N	N	-	19	49649051	49649051	T	G	snp	intronic	 	 	 	 	PPFIA3	Ppfia3	ENSG00000177380	PTPRF interacting protein alpha 3	chr19:49622646-49654283	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]		 	Receptor-type tyrosine-protein phosphatases	GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS|GO:0048172;regulation of short-term neuronal synaptic plasticity;ISS	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098875;epididymosome;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPFIA3			https://www.ncbi.nlm.nih.gov/omim/?term=603144	http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA3&submit=Quick%0D%14014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA3	rs3764625	0.59365	0	0	1	0	0	intronic	intronic	intronic	PPFIA3	PPFIA3	ENSG00000177380	Na	Na	Na	Na	Na	Na	Het;T>G	279;1|8	Hom;T>G	271;0|8
N	N	-	19	498524	498524	A	G	snp	synonymous SNV	A366G	P122P	hydrophobic,neutral	hydrophobic,neutral	MADCAM1		ENSG00000099866	mucosal vascular addressin cell adhesion molecule 1	chr19:489176-505347	The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]	cholangitis, sclerosing; Graft vs Host Disease	Mice homozygous for a knock-out allele exhibit small Peyer's patches and decreased homing of IgA-secreting plasma cells in the lamina propria.	Integrin cell surface interactions	GO:0002687;positive regulation of leukocyte migration;IBA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IDA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0007568;aging;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0034113;heterotypic cell-cell adhesion;IMP|GO:0043113;receptor clustering;IDA|GO:0050776;regulation of immune response;TAS|GO:0050901;leukocyte tethering or rolling;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0098640;integrin binding involved in cell-matrix adhesion;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MADCAM1	https://www.uniprot.org/uniprot/Q13477		https://www.ncbi.nlm.nih.gov/omim/?term=102670	http://www.informatics.jax.org/searchtool/Search.do?query=MADCAM1&submit=Quick%0D%2345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MADCAM1	rs2302217	0.633586	0.5635	0.5284	1	0	0	exonic	exonic	exonic	MADCAM1	MADCAM1	ENSG00000099866	synonymous SNV	synonymous SNV	unknown	MADCAM1:NM_130762:exon3:c.A366G:p.P122P,MADCAM1:NM_130760:exon3:c.A366G:p.P122P,	MADCAM1:uc002lot.3:exon3:c.A366G:p.P122P,MADCAM1:uc010drq.3:exon2:c.A81G:p.P27P,MADCAM1:uc002los.3:exon3:c.A366G:p.P122P,	UNKNOWN	Het;A>G	669;26|33	Hom;A>G	1614;0|58
N	N	-	19	49930786	49930786	C	A	snp	nonsynonymous SNV	C1099A	P367T	hydrophobic,neutral	polar,hydrophilic,neutral	GFY	Gfy	ENSG00000261949	golgi associated olfactory signaling regulator	chr19:49927006-49932075			Mice homozygous for a null mutation display short olfactory epithelium (OE) cilia, reduced odorant induced local field potentials in the OE and impaired olfaction.		GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0097499;protein localization to non-motile cilium;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GFY				http://www.informatics.jax.org/searchtool/Search.do?query=GFY&submit=Quick%0D%20444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GFY	rs4801798	0.169329	0	0.2340	0.00	0	3	exonic	exonic	exonic	GFY	LOC100507003	ENSG00000261949	nonsynonymous SNV	nonsynonymous SNV	unknown	GFY:NM_001195256:exon1:c.C1099A:p.P367T,	LOC100507003:uc021uxm.1:exon1:c.C1099A:p.P367T,	UNKNOWN	Het;C>A	894;39|42	Hom;C>A	2343;0|82
N	N	-	19	49950298	49950298	C	T	snp	nonsynonymous SNV	G670A	V224I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PIH1D1	Pih1d1	ENSG00000104872	PIH1 domain containing 1	chr19:49949555-49956754			 		GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA	GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1	https://www.uniprot.org/uniprot/Q9NWS0		https://www.ncbi.nlm.nih.gov/omim/?term=611480	http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1	rs13394	0.688898	0.8098	0.7139	0.08	1	13	exonic	exonic	exonic	PIH1D1	PIH1D1	ENSG00000104872	nonsynonymous SNV	nonsynonymous SNV	unknown	PIH1D1:NM_017916:exon7:c.G670A:p.V224I,	PIH1D1:uc002pns.2:exon7:c.G670A:p.V224I,	UNKNOWN	Het;C>T	713;46|38	Hom;C>T	2093;0|80
N	N	-	19	49950356	49950356	C	G	snp	synonymous SNV	G612C	G204G	aliphatic,neutral	aliphatic,neutral	PIH1D1	Pih1d1	ENSG00000104872	PIH1 domain containing 1	chr19:49949555-49956754			 		GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA	GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1	https://www.uniprot.org/uniprot/Q9NWS0		https://www.ncbi.nlm.nih.gov/omim/?term=611480	http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1	rs12443	0.677915	0.7990	0.7105	1	0	0	exonic	exonic	exonic	PIH1D1	PIH1D1	ENSG00000104872	synonymous SNV	synonymous SNV	unknown	PIH1D1:NM_017916:exon7:c.G612C:p.G204G,	PIH1D1:uc002pns.2:exon7:c.G612C:p.G204G,	UNKNOWN	Het;C>G	783;38|38	Hom;C>G	1938;0|70
N	N	-	19	49954803	49954803	C	T	snp	nonsynonymous SNV	G29A	G10E	aliphatic,neutral	polar,hydrophilic,charged(-)	PIH1D1	Pih1d1	ENSG00000104872	PIH1 domain containing 1	chr19:49949555-49956754			 		GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA	GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1	https://www.uniprot.org/uniprot/Q9NWS0		https://www.ncbi.nlm.nih.gov/omim/?term=611480	http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1	rs2293013	0.608826	0.7155	0.6862	0.15	2	13	exonic	exonic	exonic	PIH1D1	PIH1D1	ENSG00000104872	nonsynonymous SNV	nonsynonymous SNV	unknown	PIH1D1:NM_017916:exon1:c.G29A:p.G10E,	PIH1D1:uc010yaq.2:exon1:c.G29A:p.G10E,PIH1D1:uc010yap.2:exon1:c.G29A:p.G10E,PIH1D1:uc002pns.2:exon1:c.G29A:p.G10E,	UNKNOWN	Het;C>T	1237;82|36	Hom;C>T	4494;0|102
N	N	-	19	49954807	49954807	T	G	snp	nonsynonymous SNV	A25C	M9L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	PIH1D1	Pih1d1	ENSG00000104872	PIH1 domain containing 1	chr19:49949555-49956754			 		GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA	GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1	https://www.uniprot.org/uniprot/Q9NWS0		https://www.ncbi.nlm.nih.gov/omim/?term=611480	http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1	rs2293012	0.608826	0.7155	0.6862	0.08	1	13	exonic	exonic	exonic	PIH1D1	PIH1D1	ENSG00000104872	nonsynonymous SNV	nonsynonymous SNV	unknown	PIH1D1:NM_017916:exon1:c.A25C:p.M9L,	PIH1D1:uc010yaq.2:exon1:c.A25C:p.M9L,PIH1D1:uc010yap.2:exon1:c.A25C:p.M9L,PIH1D1:uc002pns.2:exon1:c.A25C:p.M9L,	UNKNOWN	Het;T>G	1237;80|36	Hom;T>G	4425;0|97
N	N	-	19	49956690	49956690	C	T	snp	UTR5	-1859G>A	 	 	 	PIH1D1	Pih1d1	ENSG00000104872	PIH1 domain containing 1	chr19:49949555-49956754			 		GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA	GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1	https://www.uniprot.org/uniprot/Q9NWS0		https://www.ncbi.nlm.nih.gov/omim/?term=611480	http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1	rs3760670	0.389577	0.3591	0.4955	1	0	0	intronic	intronic	UTR5	ALDH16A1	ALDH16A1	ENSG00000104872(ENST00000596049:c.-1859G>A,ENST00000599366:c.-1859G>A,ENST00000597415:c.-2009G>A,ENST00000601825:c.-1859G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	480;36|28	Hom;C>T	1661;1|66
N	N	-	19	49969310	49969310	A	G	snp	intronic	 	 	 	 	ALDH16A1	Aldh16a1	ENSG00000161618	aldehyde dehydrogenase 16 family member A1	chr19:49956426-49974305	This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]		Homozygous knockout mice exhibit abnormal blood plasma lipid and ion profiles.		GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH16A1			https://www.ncbi.nlm.nih.gov/omim/?term=613358	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH16A1&submit=Quick%0D%10589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH16A1	rs2914668	0.676518	0.8098	0.7106	1	0	0	intronic	intronic	intronic	ALDH16A1	ALDH16A1	ENSG00000161618,ENSG00000269469	Na	Na	Na	Na	Na	Na	Het;A>G	274;10|12	Hom;A>G	584;0|20
N	N	-	19	50031350	50031350	A	AGGGCGGCTCG	indel	intronic	 	 	 	 	RCN3	Rcn3	ENSG00000142552	reticulocalbin 3	chr19:50030875-50050219			Mice homozygous for a knock-out allele exhibit neonatal lethality due to atelectasis-induced respiratory distress associated with failure of type II pneumocyte maturation, decreased surfactant protein secretion, altered surfactant phospholipid homeostasis, and abnormal lamellar body formation.			GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RCN3	https://www.uniprot.org/uniprot/Q96D15			http://www.informatics.jax.org/searchtool/Search.do?query=RCN3&submit=Quick%0D%8302ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RCN3	rs147818341	0.14397	0	0	1	0	0	intronic	intronic	intronic	RCN3	RCN3	ENSG00000142552	Na	Na	Na	Na	Na	Na	Het;+GGGCGGCTCG	125;2|4	Hom;+GGGCGGCTCG	233;0|6
N	N	-	19	50086626	50086626	T	C	snp	UTR5	-157T>C	 	 	 	PRRG2	Prrg2	ENSG00000126460	proline rich and Gla domain 2	chr19:50083903-50094272	The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRG2	https://www.uniprot.org/uniprot/O14669		https://www.ncbi.nlm.nih.gov/omim/?term=604429	http://www.informatics.jax.org/searchtool/Search.do?query=PRRG2&submit=Quick%0D%5942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRG2	rs3745473	0.323882	0	0.2487	1	0	0	intronic	UTR5	intronic	PRRG2	PRRG2(uc010yaz.1:c.-157T>C)	ENSG00000126460,ENSG00000142546	Na	Na	Na	Na	Na	Na	Het;T>C	242;18|12	Hom;T>C	750;0|25
N	N	-	19	50086806	50086806	C	T	snp	synonymous SNV	C93T	F31F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	PRRG2	Prrg2	ENSG00000126460	proline rich and Gla domain 2	chr19:50083903-50094272	The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRG2	https://www.uniprot.org/uniprot/O14669		https://www.ncbi.nlm.nih.gov/omim/?term=604429	http://www.informatics.jax.org/searchtool/Search.do?query=PRRG2&submit=Quick%0D%5942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRG2	rs3745474	0.29992	0.2643	0.2388	1	0	0	exonic	exonic	exonic	PRRG2	PRRG2	ENSG00000126460	synonymous SNV	synonymous SNV	unknown	PRRG2:NM_000951:exon3:c.C93T:p.F31F,	PRRG2:uc002pon.3:exon3:c.C93T:p.F31F,PRRG2:uc010yaz.1:exon2:c.C24T:p.F8F,	UNKNOWN	Het;C>T	914;46|42	Hom;C>T	1932;1|72
N	N	-	19	50091798	50091798	G	T	snp	nonsynonymous SNV	G346T	G116C	aliphatic,neutral	polar,hydrophobic,neutral	PRRG2	Prrg2	ENSG00000126460	proline rich and Gla domain 2	chr19:50083903-50094272	The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRG2	https://www.uniprot.org/uniprot/O14669		https://www.ncbi.nlm.nih.gov/omim/?term=604429	http://www.informatics.jax.org/searchtool/Search.do?query=PRRG2&submit=Quick%0D%5942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRG2	rs2288920	0.298323	0.2600	0.3176	0.23	3	13	exonic	exonic	exonic	PRRG2	PRRG2	ENSG00000126460	nonsynonymous SNV	nonsynonymous SNV	unknown	PRRG2:NM_000951:exon5:c.G346T:p.G116C,	PRRG2:uc002pon.3:exon5:c.G346T:p.G116C,PRRG2:uc010yaz.1:exon4:c.G277T:p.G93C,	UNKNOWN	Het;G>T	883;61|45	Hom;G>T	2286;1|90
N	N	-	19	50093572	50093572	A	G	snp	intronic	 	 	 	 	PRRG2	Prrg2	ENSG00000126460	proline rich and Gla domain 2	chr19:50083903-50094272	The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRG2	https://www.uniprot.org/uniprot/O14669		https://www.ncbi.nlm.nih.gov/omim/?term=604429	http://www.informatics.jax.org/searchtool/Search.do?query=PRRG2&submit=Quick%0D%5942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRG2	rs7249925	0.44349	0.3905	0	1	0	0	intronic	intronic	intronic	PRRG2	PRRG2	ENSG00000126460	Na	Na	Na	Na	Na	Na	Het;A>G	767;39|36	Hom;A>G	1576;3|59
N	N	-	19	50095047	50095052	AGCCGG	A	indel	intronic	 	 	 	 	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs146415405	0	0.3353	0.1762	1	0	0	intronic	intronic	intronic	PRR12	PRR12	ENSG00000126464	Na	Na	Na	Na	Na	Na	Het;-GCCGG	358;9|10	Hom;-GCCGG	1158;0|27
N	N	-	19	50096421	50096421	C	G	snp	intronic	 	 	 	 	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs10404887	0.351438	0	0	1	0	0	intronic	intronic	intronic	PRR12	PRR12	ENSG00000126464	Na	Na	Na	Na	Na	Na	Het;C>G	99;2|4	Hom;C>G	187;0|6
N	N	-	19	50097784	50097784	T	C	snp	synonymous SNV	T273C	L91L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs10414643	0.357628	0.3218	0.2982	1	0	0	exonic	exonic	exonic	PRR12	PRR12	ENSG00000126464	synonymous SNV	synonymous SNV	unknown	PRR12:NM_020719:exon3:c.T273C:p.L91L,	PRR12:uc002poo.4:exon3:c.T273C:p.L91L,	UNKNOWN	Het;T>C	1609;90|73	Hom;T>C	3667;0|133
N	N	-	19	50097932	50097932	G	C	snp	intronic	 	 	 	 	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs16981329	0.379593	0.3430	0.3045	1	0	0	intronic	intronic	intronic	PRR12	PRR12	ENSG00000126464	Na	Na	Na	Na	Na	Na	Het;G>C	1767;79|79	Hom;G>C	3666;0|127
N	N	-	19	50098423	50098423	G	A	snp	synonymous SNV	G831A	P277P	hydrophobic,neutral	hydrophobic,neutral	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs12462756	0.298123	0.2296	0.2597	1	0	0	exonic	exonic	exonic	PRR12	PRR12	ENSG00000126464	synonymous SNV	synonymous SNV	unknown	PRR12:NM_020719:exon4:c.G831A:p.P277P,	PRR12:uc002poo.4:exon4:c.G831A:p.P277P,	UNKNOWN	Het;G>A	499;52|30	Hom;G>A	1595;2|63
N	N	-	19	50100295	50100295	A	G	snp	synonymous SNV	A2703G	P901P	hydrophobic,neutral	hydrophobic,neutral	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs3745475	0.3748	0.2889	0.4028	1	0	0	exonic	exonic	exonic	PRR12	PRR12	ENSG00000126464	synonymous SNV	synonymous SNV	unknown	PRR12:NM_020719:exon4:c.A2703G:p.P901P,	PRR12:uc002poo.4:exon4:c.A2703G:p.P901P,	UNKNOWN	Het;A>G	762;44|36	Hom;A>G	2468;0|87
N	N	-	19	50103252	50103252	G	A	snp	intronic	 	 	 	 	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs2116922	0.384385	0	0	1	0	0	intronic	intronic	intronic	PRR12	PRR12	ENSG00000126464	Na	Na	Na	Na	Na	Na	Het;G>A	745;13|29	Hom;G>A	1525;0|49
N	N	-	19	50105239	50105239	C	T	snp	intronic	 	 	 	 	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs6509439	0.422524	0	0	1	0	0	intronic	intronic	intronic	PRR12	PRR12	ENSG00000126464	Na	Na	Na	Na	Na	Na	Het;C>T	339;5|15	Hom;C>T	600;0|21
N	N	-	19	50128543	50128543	A	G	snp	intronic	 	 	 	 	PRR12	Prr12	ENSG00000126464	proline rich 12	chr19:50094900-50129696	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]		 			GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRR12	https://www.uniprot.org/uniprot/Q9ULL5		https://www.ncbi.nlm.nih.gov/omim/?term=616633	http://www.informatics.jax.org/searchtool/Search.do?query=PRR12&submit=Quick%0D%5944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR12	rs7256146	0.402955	0	0	1	0	0	intronic	intronic	intronic	PRR12	PRR12	ENSG00000126464	Na	Na	Na	Na	Na	Na	Het;A>G	245;5|10	Hom;A>G	317;0|11
N	N	-	19	50162909	50162909	C	G	snp	nonsynonymous SNV	G842C	S281T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	IRF3	Irf3	ENSG00000126456	interferon regulatory factor 3	chr19:50162826-50169132	This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Lupus Erythematosus, Systemic; Hepatitis C, Chronic|Liver Cirrhosis; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; lung cancer; esophageal cancer; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; bladder cancer; cervical intraepithelial neoplasia grade 3	Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;TAS|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0009617;response to bacterium;IEA|GO:0016032;viral process;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032479;regulation of type I interferon production;TAS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032727;positive regulation of interferon-alpha production;ISS|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0039530;MDA-5 signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043330;response to exogenous dsRNA;IEA|GO:0045087;innate immune response;IEA|GO:0045351;type I interferon biosynthetic process;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060340;positive regulation of type I interferon-mediated signaling pathway;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071888;macrophage apoptotic process;TAS|GO:0097300;programmed necrotic cell death;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000975;regulatory region DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;NAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003712;transcription cofactor activity;TAS|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IRF3	https://www.uniprot.org/uniprot/Q14653		https://www.ncbi.nlm.nih.gov/omim/?term=603734	http://www.informatics.jax.org/searchtool/Search.do?query=IRF3&submit=Quick%0D%5939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF3	rs7251	0.484625	0.4335	0.4294	0.17	2	12	exonic	exonic	exonic	IRF3	IRF3	ENSG00000126456	nonsynonymous SNV	nonsynonymous SNV	unknown	IRF3:NM_001197125:exon7:c.G842C:p.S281T,IRF3:NM_001197123:exon8:c.G1175C:p.S392T,IRF3:NM_001197124:exon7:c.G899C:p.S300T,IRF3:NM_001571:exon8:c.G1280C:p.S427T,IRF3:NM_001197126:exon6:c.G842C:p.S281T,IRF3:NM_001197122:exon8:c.G1296C:p.E432D,IRF3:NM_001197128:exon5:c.G461C:p.S154T,IRF3:NM_001197127:exon6:c.G461C:p.S154T,	IRF3:uc002pot.2:exon7:c.G899C:p.S300T,IRF3:uc010end.2:exon8:c.G1280C:p.S427T,IRF3:uc021uxs.1:exon5:c.G461C:p.S154T,IRF3:uc002poy.2:exon7:c.G1280C:p.S427T,IRF3:uc021uxq.1:exon6:c.G842C:p.S281T,IRF3:uc021uxo.1:exon8:c.G1175C:p.S392T,IRF3:uc021uxp.1:exon7:c.G842C:p.S281T,IRF3:uc002pow.3:exon8:c.G1296C:p.E432D,IRF3:uc002pou.3:exon8:c.G1280C:p.S427T,IRF3:uc021uxr.1:exon6:c.G461C:p.S154T,	UNKNOWN	Het;C>G	922;45|45	Hom;C>G	2832;0|101
N	N	-	19	50168871	50168871	G	A	snp	UTR5	-210G>A	 	 	 	BCL2L12	Bcl2l12	ENSG00000126453	BCL2 like 12	chr19:50168823-50177173	This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Type 2 Diabetes| edema | rosiglitazone	 		GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:2000773;negative regulation of cellular senescence;IEA	GO:0005634;nucleus;IDA|GO:0016020;membrane;IDA	GO:0002039;p53 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L12	https://www.uniprot.org/uniprot/Q9HB09		https://www.ncbi.nlm.nih.gov/omim/?term=610837	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L12&submit=Quick%0D%5938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L12	rs2304206	0.373003	0	0	1	0	0	UTR5	UTR5	UTR5	BCL2L12(NM_001282521:c.-210G>A,NM_001282519:c.-210G>A,NM_138639:c.-210G>A,NM_001282520:c.-210G>A,NM_001282517:c.-210G>A,NM_001282516:c.-210G>A,NM_001040668:c.-210G>A)	BCL2L12(uc002ppa.3:c.-210G>A,uc031rlu.1:c.-210G>A,uc031rlv.1:c.-210G>A,uc031rlw.1:c.-210G>A,uc002ppb.3:c.-210G>A,uc031rlz.1:c.-210G>A,uc031rma.1:c.-210G>A,uc031rmb.1:c.-210G>A,uc031rmd.1:c.-210G>A),IRF3(uc002poy.2:c.-776C>T,uc010end.2:c.-776C>T,uc002poz.1:c.-776C>T)	ENSG00000126453(ENST00000246785:c.-210G>A,ENST00000441864:c.-210G>A),ENSG00000126456(ENST00000597198:c.-776C>T,ENST00000597636:c.-776C>T,ENST00000600453:c.-776C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1012;90|51	Hom;G>A	3974;0|144
N	N	-	19	50168927	50168927	A	C	snp	splicing	 	 	 	 	IRF3	Irf3	ENSG00000126456	interferon regulatory factor 3	chr19:50162826-50169132	This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Lupus Erythematosus, Systemic; Hepatitis C, Chronic|Liver Cirrhosis; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; lung cancer; esophageal cancer; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; bladder cancer; cervical intraepithelial neoplasia grade 3	Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;TAS|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0009617;response to bacterium;IEA|GO:0016032;viral process;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032479;regulation of type I interferon production;TAS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032727;positive regulation of interferon-alpha production;ISS|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0039530;MDA-5 signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043330;response to exogenous dsRNA;IEA|GO:0045087;innate immune response;IEA|GO:0045351;type I interferon biosynthetic process;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060340;positive regulation of type I interferon-mediated signaling pathway;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071888;macrophage apoptotic process;TAS|GO:0097300;programmed necrotic cell death;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000975;regulatory region DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;NAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003712;transcription cofactor activity;TAS|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IRF3	https://www.uniprot.org/uniprot/Q14653		https://www.ncbi.nlm.nih.gov/omim/?term=603734	http://www.informatics.jax.org/searchtool/Search.do?query=IRF3&submit=Quick%0D%5939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF3	rs2304205	0.371605	0	0	1	0	0	UTR5	UTR5	splicing	BCL2L12(NM_001282521:c.-154A>C,NM_001282519:c.-154A>C,NM_138639:c.-154A>C,NM_001282520:c.-154A>C,NM_001282517:c.-154A>C,NM_001282516:c.-154A>C,NM_001040668:c.-154A>C),IRF3(NM_001197128:c.-3083T>G,NM_001197122:c.-832T>G,NM_001197124:c.-832T>G,NM_001197123:c.-1168T>G,NM_001197127:c.-3083T>G,NM_001197125:c.-3083T>G,NM_001197126:c.-3083T>G,NM_001571:c.-832T>G)	BCL2L12(uc002ppa.3:c.-154A>C,uc031rlu.1:c.-154A>C,uc031rlv.1:c.-154A>C,uc031rlw.1:c.-154A>C,uc002ppb.3:c.-154A>C,uc031rlz.1:c.-154A>C,uc031rma.1:c.-154A>C,uc031rmb.1:c.-154A>C,uc031rmd.1:c.-154A>C),IRF3(uc002poy.2:c.-832T>G,uc002pow.3:c.-832T>G,uc021uxo.1:c.-1168T>G,uc002pou.3:c.-832T>G,uc010end.2:c.-832T>G,uc021uxp.1:c.-3083T>G,uc021uxq.1:c.-3083T>G,uc002pot.2:c.-832T>G,uc021uxr.1:c.-3083T>G,uc021uxs.1:c.-3083T>G,uc002poz.1:c.-832T>G)	ENSG00000126456	Na	Na	Na	Na	Na	Na	Het;A>C	856;95|46	Hom;A>C	2970;4|117
N	N	-	19	50169020	50169020	T	C	snp	UTR5	-61T>C	 	 	 	BCL2L12	Bcl2l12	ENSG00000126453	BCL2 like 12	chr19:50168823-50177173	This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Type 2 Diabetes| edema | rosiglitazone	 		GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:2000773;negative regulation of cellular senescence;IEA	GO:0005634;nucleus;IDA|GO:0016020;membrane;IDA	GO:0002039;p53 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L12	https://www.uniprot.org/uniprot/Q9HB09		https://www.ncbi.nlm.nih.gov/omim/?term=610837	http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L12&submit=Quick%0D%5938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L12	rs2304204	0.402756	0	0	1	0	0	UTR5	UTR5	UTR5	BCL2L12(NM_001282521:c.-61T>C,NM_001282519:c.-61T>C,NM_138639:c.-61T>C,NM_001282520:c.-61T>C,NM_001282517:c.-61T>C,NM_001282516:c.-61T>C,NM_001040668:c.-61T>C),IRF3(NM_001197128:c.-3176A>G,NM_001197122:c.-925A>G,NM_001197124:c.-925A>G,NM_001197123:c.-1261A>G,NM_001197127:c.-3176A>G,NM_001197125:c.-3176A>G,NM_001197126:c.-3176A>G,NM_001571:c.-925A>G)	BCL2L12(uc002ppa.3:c.-61T>C,uc031rlu.1:c.-61T>C,uc031rlv.1:c.-61T>C,uc031rlw.1:c.-61T>C,uc002ppb.3:c.-61T>C,uc031rlz.1:c.-61T>C,uc031rma.1:c.-61T>C,uc031rmb.1:c.-61T>C,uc031rmd.1:c.-61T>C),IRF3(uc002poy.2:c.-925A>G,uc002pow.3:c.-925A>G,uc021uxo.1:c.-1261A>G,uc002pou.3:c.-925A>G,uc010end.2:c.-925A>G,uc021uxp.1:c.-3176A>G,uc021uxq.1:c.-3176A>G,uc002pot.2:c.-925A>G,uc021uxr.1:c.-3176A>G,uc021uxs.1:c.-3176A>G,uc002poz.1:c.-925A>G)	ENSG00000126453(ENST00000246785:c.-61T>C,ENST00000441864:c.-61T>C),ENSG00000126456(ENST00000377139:c.-925A>G,ENST00000601291:c.-925A>G,ENST00000597198:c.-925A>G,ENST00000597636:c.-925A>G,ENST00000598808:c.-3176A>G,ENST00000598108:c.-925A>G,ENST00000595034:c.-3176A>G,ENST00000593818:c.-3176A>G,ENST00000601373:c.-3176A>G,ENST00000593337:c.-925A>G,ENST00000601809:c.-925A>G,ENST00000600453:c.-925A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1200;65|56	Hom;T>C	2777;4|105
N	N	-	19	50194399	50194399	G	C	snp	UTR5	-1111G>C	 	 	 	CPT1C	Cpt1c	ENSG00000169169	carnitine palmitoyltransferase 1C	chr19:50194155-50216988	This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]	Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone	Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning.		GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0009437;carnitine metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0004095;carnitine O-palmitoyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPT1C		https://hpo.jax.org/app/browse/search?q=CPT1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608846	http://www.informatics.jax.org/searchtool/Search.do?query=CPT1C&submit=Quick%0D%12428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPT1C	rs1075453	0.404752	0	0	1	0	0	UTR5	UTR5	UTR5	CPT1C(NM_001199753:c.-1111G>C,NM_152359:c.-1111G>C,NM_001199752:c.-1111G>C,NM_001136052:c.-1111G>C)	CPT1C(uc002ppl.4:c.-1111G>C,uc002ppi.3:c.-6292G>C,uc002ppk.3:c.-1111G>C,uc010eng.3:c.-1111G>C,uc010enh.3:c.-1111G>C,uc002ppj.3:c.-1111G>C)	ENSG00000169169(ENST00000323446:c.-1111G>C,ENST00000598259:c.-1111G>C,ENST00000392518:c.-1111G>C,ENST00000354199:c.-1111G>C,ENST00000598293:c.-1111G>C,ENST00000598396:c.-1111G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	836;41|39	Hom;G>C	2415;0|82
N	N	-	19	50195770	50195770	T	C	snp	intronic	 	 	 	 	CPT1C	Cpt1c	ENSG00000169169	carnitine palmitoyltransferase 1C	chr19:50194155-50216988	This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]	Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone	Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning.		GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0009437;carnitine metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0004095;carnitine O-palmitoyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPT1C		https://hpo.jax.org/app/browse/search?q=CPT1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608846	http://www.informatics.jax.org/searchtool/Search.do?query=CPT1C&submit=Quick%0D%12428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPT1C	rs10423579	0.581869	0	0	1	0	0	intronic	intronic	intronic	CPT1C	CPT1C	ENSG00000169169	Na	Na	Na	Na	Na	Na	Het;T>C	196;7|5	Hom;T>C	782;0|18
N	N	-	19	50195771	50195771	T	G	snp	intronic	 	 	 	 	CPT1C	Cpt1c	ENSG00000169169	carnitine palmitoyltransferase 1C	chr19:50194155-50216988	This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]	Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone	Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning.		GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0009437;carnitine metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0004095;carnitine O-palmitoyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPT1C		https://hpo.jax.org/app/browse/search?q=CPT1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608846	http://www.informatics.jax.org/searchtool/Search.do?query=CPT1C&submit=Quick%0D%12428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPT1C	rs10423580	0.581669	0	0	1	0	0	intronic	intronic	intronic	CPT1C	CPT1C	ENSG00000169169	Na	Na	Na	Na	Na	Na	Het;T>G	196;7|6	Hom;T>G	782;0|18
N	N	-	19	50805138	50805138	C	T	snp	intronic	 	 	 	 	MYH14	Myh14	ENSG00000105357	myosin heavy chain 14	chr19:50691443-50813802	This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Cleft Lip|Cleft Palate	Mice homozygous for a knock-out allele are healthy and survive to adulthood with no apparent defects. About 30% of knock-in mice either heterozygous or homozygous for a single amino acid mutation exhibit increased lymphoma incidence.	RHO GTPases activate PAKs	GO:0003009;skeletal muscle contraction;IMP|GO:0007519;skeletal muscle tissue development;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008360;regulation of cell shape;IEA|GO:0019228;neuronal action potential;IMP|GO:0030048;actin filament-based movement;IEA|GO:0031032;actomyosin structure organization;IDA|GO:0070584;mitochondrion morphogenesis;IMP|GO:0071625;vocalization behavior;IMP	GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005903;brush border;IEA|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016460;myosin II complex;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042641;actomyosin;IDA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0097513;myosin II filament;IDA	GO:0000146;microfilament motor activity;IEA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0030898;actin-dependent ATPase activity;IDA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYH14	https://www.uniprot.org/uniprot/Q7Z406	https://hpo.jax.org/app/browse/search?q=MYH14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608568	http://www.informatics.jax.org/searchtool/Search.do?query=MYH14&submit=Quick%0D%3281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH14	rs3826772	0.750799	0.7947	0.8300	1	0	0	intronic	intronic	intronic	MYH14	MYH14	ENSG00000105357	Na	Na	Na	Na	Na	Na	Het;C>T	755;57|38	Hom;C>T	1974;0|72
N	N	-	19	50813263	50813263	T	G	snp	UTR3	*216T>G	 	 	 	MYH14	Myh14	ENSG00000105357	myosin heavy chain 14	chr19:50691443-50813802	This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Cleft Lip|Cleft Palate	Mice homozygous for a knock-out allele are healthy and survive to adulthood with no apparent defects. About 30% of knock-in mice either heterozygous or homozygous for a single amino acid mutation exhibit increased lymphoma incidence.	RHO GTPases activate PAKs	GO:0003009;skeletal muscle contraction;IMP|GO:0007519;skeletal muscle tissue development;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008360;regulation of cell shape;IEA|GO:0019228;neuronal action potential;IMP|GO:0030048;actin filament-based movement;IEA|GO:0031032;actomyosin structure organization;IDA|GO:0070584;mitochondrion morphogenesis;IMP|GO:0071625;vocalization behavior;IMP	GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005903;brush border;IEA|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016460;myosin II complex;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042641;actomyosin;IDA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0097513;myosin II filament;IDA	GO:0000146;microfilament motor activity;IEA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0030898;actin-dependent ATPase activity;IDA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYH14	https://www.uniprot.org/uniprot/Q7Z406	https://hpo.jax.org/app/browse/search?q=MYH14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608568	http://www.informatics.jax.org/searchtool/Search.do?query=MYH14&submit=Quick%0D%3281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH14	rs627491	0.82508	0	0	1	0	0	UTR3	UTR3	UTR3	MYH14(NM_024729:c.*216T>G,NM_001077186:c.*216T>G,NM_001145809:c.*216T>G)	MYH14(uc010enu.1:c.*216T>G,uc002prq.1:c.*216T>G,uc002prr.1:c.*216T>G,uc010ycb.2:c.*216T>G,uc002prs.1:c.*216T>G)	ENSG00000105357(ENST00000425460:c.*216T>G,ENST00000376970:c.*216T>G,ENST00000440075:c.*216T>G,ENST00000601313:c.*216T>G,ENST00000262269:c.*216T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	1131;56|53	Hom;T>G	2558;4|95
N	N	-	19	50881820	50881820	A	AAAC	indel	nonframeshift substitution	223_223delinsAAAC	 	 	 	NR1H2	Nr1h2	ENSG00000131408	nuclear receptor subfamily 1 group H member 2	chr19:50832910-50886239	The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]	diabetes, type 2; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; atherosclerosis; obesity|Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; Lymphoma, Non-Hodgkin; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; plasma HDL cholesterol (HDL-C) levels; cancer tissues	Homozygous null mutations cause altered lipid, cholesterol and glucose metabolism and may lead to elevated cartilage matrix catabolism and PGE2 production, lipid-laden uterus myocytes and Sertoli cells, impaired uterus contractility and parturition, and higher susceptibility to bacterial infection.	VLDLR internalisation and degradation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;IC|GO:0010867;positive regulation of triglyceride biosynthetic process;IMP|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010884;positive regulation of lipid storage;IEA|GO:0010887;negative regulation of cholesterol storage;IMP|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032369;negative regulation of lipid transport;IMP|GO:0032376;positive regulation of cholesterol transport;IDA|GO:0042632;cholesterol homeostasis;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045723;positive regulation of fatty acid biosynthetic process;IMP|GO:0045861;negative regulation of proteolysis;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048550;negative regulation of pinocytosis;IMP|GO:0051006;positive regulation of lipoprotein lipase activity;IMP|GO:0055088;lipid homeostasis;IEA|GO:0060336;negative regulation of interferon-gamma-mediated signaling pathway;NAS|GO:0090108;positive regulation of high-density lipoprotein particle assembly;IEA|GO:0090187;positive regulation of pancreatic juice secretion;IEA|GO:0090340;positive regulation of secretion of lysosomal enzymes;IEA|GO:2000188;regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001133;RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0034191;apolipoprotein A-I receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NR1H2	https://www.uniprot.org/uniprot/P55055		https://www.ncbi.nlm.nih.gov/omim/?term=600380	http://www.informatics.jax.org/searchtool/Search.do?query=NR1H2&submit=Quick%0D%6538ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NR1H2	rs34296657	0.548123	0.7908	0.6187	1	0	0	exonic	exonic	exonic	NR1H2	NR1H2	ENSG00000131408	nonframeshift substitution	nonframeshift substitution	unknown	NR1H2:NM_001256647:exon5:c.223_223delinsAAAC,NR1H2:NM_007121:exon6:c.514_514delinsAAAC,	NR1H2:uc002psa.5:exon5:c.223_223delinsAAAC,NR1H2:uc010enw.4:exon6:c.514_514delinsAAAC,	UNKNOWN	Het;+AAC	2153;64|56	Hom;+AAC	5369;0|124
N	N	-	19	51200466	51200466	G	A	snp	intronic	 	 	 	 	SHANK1	Shank1	ENSG00000161681	SH3 and multiple ankyrin repeat domains 1	chr19:51165084-51222707	This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]	AUTISM	Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning.	Neurexins and neuroligins	GO:0006461;protein complex assembly;ISS|GO:0007016;cytoskeletal anchoring at plasma membrane;NAS|GO:0007399;nervous system development;IEA|GO:0007616;long-term memory;ISS|GO:0008306;associative learning;ISS|GO:0030154;cell differentiation;IEA|GO:0030534;adult behavior;IMP|GO:0032232;negative regulation of actin filament bundle assembly;ISS|GO:0035176;social behavior;IMP|GO:0035418;protein localization to synapse;ISS|GO:0042048;olfactory behavior;IEA|GO:0046959;habituation;IEA|GO:0050885;neuromuscular process controlling balance;ISS|GO:0050894;determination of affect;IMP|GO:0060013;righting reflex;IEA|GO:0060074;synapse maturation;ISS|GO:0060997;dendritic spine morphogenesis;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0071625;vocalization behavior;IMP|GO:2000311;regulation of AMPA receptor activity;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0008328;ionotropic glutamate receptor complex;ISS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0017146;NMDA selective glutamate receptor complex;ISS|GO:0030054;cell junction;IEA|GO:0030425;dendrite;NAS|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;ISS	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;ISS|GO:0017124;SH3 domain binding;ISS|GO:0030159;receptor signaling complex scaffold activity;IEA|GO:0030160;GKAP/Homer scaffold activity;ISS|GO:0031877;somatostatin receptor binding;ISS|GO:0032403;protein complex binding;ISS|GO:0035255;ionotropic glutamate receptor binding;ISS|GO:0042802;identical protein binding;ISS|GO:0071532;ankyrin repeat binding;ISS|GO:0097110;scaffold protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SHANK1			https://www.ncbi.nlm.nih.gov/omim/?term=604999	http://www.informatics.jax.org/searchtool/Search.do?query=SHANK1&submit=Quick%0D%10602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK1	rs4802735	0.142173	0.1056	0	1	0	0	intronic	intronic	intronic	SHANK1	SHANK1	ENSG00000161681	Na	Na	Na	Na	Na	Na	Het;G>A	183;16|11	Hom;G>A	511;0|19
N	N	-	19	51207508	51207508	C	T	snp	intronic	 	 	 	 	SHANK1	Shank1	ENSG00000161681	SH3 and multiple ankyrin repeat domains 1	chr19:51165084-51222707	This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]	AUTISM	Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning.	Neurexins and neuroligins	GO:0006461;protein complex assembly;ISS|GO:0007016;cytoskeletal anchoring at plasma membrane;NAS|GO:0007399;nervous system development;IEA|GO:0007616;long-term memory;ISS|GO:0008306;associative learning;ISS|GO:0030154;cell differentiation;IEA|GO:0030534;adult behavior;IMP|GO:0032232;negative regulation of actin filament bundle assembly;ISS|GO:0035176;social behavior;IMP|GO:0035418;protein localization to synapse;ISS|GO:0042048;olfactory behavior;IEA|GO:0046959;habituation;IEA|GO:0050885;neuromuscular process controlling balance;ISS|GO:0050894;determination of affect;IMP|GO:0060013;righting reflex;IEA|GO:0060074;synapse maturation;ISS|GO:0060997;dendritic spine morphogenesis;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0071625;vocalization behavior;IMP|GO:2000311;regulation of AMPA receptor activity;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0008328;ionotropic glutamate receptor complex;ISS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0017146;NMDA selective glutamate receptor complex;ISS|GO:0030054;cell junction;IEA|GO:0030425;dendrite;NAS|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;ISS	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;ISS|GO:0017124;SH3 domain binding;ISS|GO:0030159;receptor signaling complex scaffold activity;IEA|GO:0030160;GKAP/Homer scaffold activity;ISS|GO:0031877;somatostatin receptor binding;ISS|GO:0032403;protein complex binding;ISS|GO:0035255;ionotropic glutamate receptor binding;ISS|GO:0042802;identical protein binding;ISS|GO:0071532;ankyrin repeat binding;ISS|GO:0097110;scaffold protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SHANK1			https://www.ncbi.nlm.nih.gov/omim/?term=604999	http://www.informatics.jax.org/searchtool/Search.do?query=SHANK1&submit=Quick%0D%10602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK1	rs187882127	0.123203	0	0	1	0	0	intronic	intronic	intronic	SHANK1	SHANK1	ENSG00000161681	Na	Na	Na	Na	Na	Na	Het;C>T	800;27|38	Hom;C>T	1063;0|40
N	N	-	19	51207775	51207775	C	T	snp	intronic	 	 	 	 	SHANK1	Shank1	ENSG00000161681	SH3 and multiple ankyrin repeat domains 1	chr19:51165084-51222707	This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]	AUTISM	Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning.	Neurexins and neuroligins	GO:0006461;protein complex assembly;ISS|GO:0007016;cytoskeletal anchoring at plasma membrane;NAS|GO:0007399;nervous system development;IEA|GO:0007616;long-term memory;ISS|GO:0008306;associative learning;ISS|GO:0030154;cell differentiation;IEA|GO:0030534;adult behavior;IMP|GO:0032232;negative regulation of actin filament bundle assembly;ISS|GO:0035176;social behavior;IMP|GO:0035418;protein localization to synapse;ISS|GO:0042048;olfactory behavior;IEA|GO:0046959;habituation;IEA|GO:0050885;neuromuscular process controlling balance;ISS|GO:0050894;determination of affect;IMP|GO:0060013;righting reflex;IEA|GO:0060074;synapse maturation;ISS|GO:0060997;dendritic spine morphogenesis;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0071625;vocalization behavior;IMP|GO:2000311;regulation of AMPA receptor activity;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0008328;ionotropic glutamate receptor complex;ISS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0017146;NMDA selective glutamate receptor complex;ISS|GO:0030054;cell junction;IEA|GO:0030425;dendrite;NAS|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;ISS	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;ISS|GO:0017124;SH3 domain binding;ISS|GO:0030159;receptor signaling complex scaffold activity;IEA|GO:0030160;GKAP/Homer scaffold activity;ISS|GO:0031877;somatostatin receptor binding;ISS|GO:0032403;protein complex binding;ISS|GO:0035255;ionotropic glutamate receptor binding;ISS|GO:0042802;identical protein binding;ISS|GO:0071532;ankyrin repeat binding;ISS|GO:0097110;scaffold protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SHANK1			https://www.ncbi.nlm.nih.gov/omim/?term=604999	http://www.informatics.jax.org/searchtool/Search.do?query=SHANK1&submit=Quick%0D%10602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK1	rs41275786	0.1248	0.0802	0.1215	1	0	0	intronic	intronic	intronic	SHANK1	SHANK1	ENSG00000161681	Na	Na	Na	Na	Na	Na	Het;C>T	559;21|29	Hom;C>T	1548;0|62
N	N	-	19	51334355	51334355	T	C	snp	ncRNA_intronic	 	 	 	 	AC011523.1																		rs2560935	0.866014	0	0	1	0	0	intronic	intronic	ncRNA_intronic	KLK15	KLK15	ENSG00000267968	Na	Na	Na	Na	Na	Na	Het;T>C	789;44|35	Hom;T>C	2006;2|70
N	N	-	19	5137192	5137192	C	T	snp	intronic	 	 	 	 	KDM4B	Kdm4b	ENSG00000127663	lysine demethylase 4B	chr19:4969125-5153606		Iron; Tobacco Use Disorder; Heart Rate	Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0033169;histone H3-K9 demethylation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;IEA|GO:0032454;histone demethylase activity (H3-K9 specific);IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KDM4B	https://www.uniprot.org/uniprot/O94953		https://www.ncbi.nlm.nih.gov/omim/?term=609765	http://www.informatics.jax.org/searchtool/Search.do?query=KDM4B&submit=Quick%0D%6062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4B	rs2613790	0.580671	0	0	1	0	0	intronic	intronic	intronic	KDM4B	KDM4B	ENSG00000127663	Na	Na	Na	Na	Na	Na	Het;C>T	422;17|20	Hom;C>T	671;0|23
N	N	-	19	5137846	5137846	G	A	snp	intronic	 	 	 	 	KDM4B	Kdm4b	ENSG00000127663	lysine demethylase 4B	chr19:4969125-5153606		Iron; Tobacco Use Disorder; Heart Rate	Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0033169;histone H3-K9 demethylation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;IEA|GO:0032454;histone demethylase activity (H3-K9 specific);IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KDM4B	https://www.uniprot.org/uniprot/O94953		https://www.ncbi.nlm.nih.gov/omim/?term=609765	http://www.informatics.jax.org/searchtool/Search.do?query=KDM4B&submit=Quick%0D%6062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4B	rs2613786	0.590655	0	0	1	0	0	intronic	intronic	intronic	KDM4B	KDM4B	ENSG00000127663	Na	Na	Na	Na	Na	Na	Het;G>A	232;14|10	Hom;G>A	473;0|15
N	N	-	19	51537903	51537903	G	GA	indel	UTR5	-26C>TC	 	 	 	KLK12	Klk12	ENSG00000186474	kallikrein related peptidase 12	chr19:51532348-51538486	Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	prostate cancer; stomach cancer	 	Formation of the cornified envelope	GO:0006508;proteolysis;IEA|GO:0070268;cornification;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;NAS|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;NAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK12			https://www.ncbi.nlm.nih.gov/omim/?term=605539	http://www.informatics.jax.org/searchtool/Search.do?query=KLK12&submit=Quick%0D%15653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK12	rs71185791	0.360224	0.2783	0.3144	1	0	0	intronic	UTR5	UTR5	KLK12	KLK12(uc002pvg.1:c.-26C>TC)	ENSG00000186474(ENST00000525263:c.-26C>TC)	Na	Na	Na	Na	Na	Na	Het;+A	591;17|24	Hom;+A	1709;0|55
N	N	-	19	51582289	51582289	C	CGACCCAGGAGTCCAGCCCCAGTACCTCCTCCCTCA	indel	intronic	 	 	 	 	KLK14	Klk14	ENSG00000129437	kallikrein related peptidase 14	chr19:51580752-51587502	This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Cholesterol, HDL; prostate cancer; Iron	 	Formation of the cornified envelope	GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK14	https://www.uniprot.org/uniprot/Q9P0G3		https://www.ncbi.nlm.nih.gov/omim/?term=606135	http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14	rs138582987	0	0	0	1	0	0	intronic	intronic	intronic	KLK14	KLK14	ENSG00000129437	Na	Na	Na	Na	Na	Na	Het;+GACCCAGGAGTCCAGCCCCAGTACCTCCTCCCTCA	283;13|13	Hom;+GACCCAGGAGTCCAGCCCCAGTACCTCCTCCCTCA	892;0|28
N	N	-	19	51582994	51582994	G	T	snp	intronic	 	 	 	 	KLK14	Klk14	ENSG00000129437	kallikrein related peptidase 14	chr19:51580752-51587502	This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Cholesterol, HDL; prostate cancer; Iron	 	Formation of the cornified envelope	GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK14	https://www.uniprot.org/uniprot/Q9P0G3		https://www.ncbi.nlm.nih.gov/omim/?term=606135	http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14	rs11671800	0.106829	0.1299	0.1926	1	0	0	intronic	intronic	intronic	KLK14	KLK14	ENSG00000129437	Na	Na	Na	Na	Na	Na	Het;G>T	254;13|8	Hom;G>T	1153;0|28
N	N	-	19	51583003	51583003	A	G	snp	intronic	 	 	 	 	KLK14	Klk14	ENSG00000129437	kallikrein related peptidase 14	chr19:51580752-51587502	This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Cholesterol, HDL; prostate cancer; Iron	 	Formation of the cornified envelope	GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK14	https://www.uniprot.org/uniprot/Q9P0G3		https://www.ncbi.nlm.nih.gov/omim/?term=606135	http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14	rs6509518	0.439696	0.4569	0.4743	1	0	0	intronic	intronic	intronic	KLK14	KLK14	ENSG00000129437	Na	Na	Na	Na	Na	Na	Het;A>G	263;10|6	Hom;A>G	982;0|23
N	N	-	19	51584743	51584743	A	G	snp	intronic	 	 	 	 	KLK14	Klk14	ENSG00000129437	kallikrein related peptidase 14	chr19:51580752-51587502	This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Cholesterol, HDL; prostate cancer; Iron	 	Formation of the cornified envelope	GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK14	https://www.uniprot.org/uniprot/Q9P0G3		https://www.ncbi.nlm.nih.gov/omim/?term=606135	http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14	rs2569489	0.415735	0.4281	0.4444	1	0	0	intronic	intronic	intronic	KLK14	KLK14	ENSG00000129437	Na	Na	Na	Na	Na	Na	Het;A>G	344;8|14	Hom;A>G	567;0|18
N	N	-	19	51584916	51584916	G	A	snp	nonsynonymous SNV	C133T	H45Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	KLK14	Klk14	ENSG00000129437	kallikrein related peptidase 14	chr19:51580752-51587502	This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Cholesterol, HDL; prostate cancer; Iron	 	Formation of the cornified envelope	GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK14	https://www.uniprot.org/uniprot/Q9P0G3		https://www.ncbi.nlm.nih.gov/omim/?term=606135	http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14	rs2569491	0.405751	0.4160	0.4204	0.17	2	12	exonic	exonic	exonic	KLK14	KLK14	ENSG00000129437	nonsynonymous SNV	nonsynonymous SNV	unknown	KLK14:NM_022046:exon4:c.C133T:p.H45Y,	KLK14:uc021uyk.1:exon4:c.C133T:p.H45Y,KLK14:uc002pvs.1:exon4:c.C133T:p.H45Y,	UNKNOWN	Het;G>A	1588;56|73	Hom;G>A	4210;2|165
N	N	-	19	51584951	51584951	T	C	snp	nonsynonymous SNV	A98G	Q33R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	KLK14	Klk14	ENSG00000129437	kallikrein related peptidase 14	chr19:51580752-51587502	This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Cholesterol, HDL; prostate cancer; Iron	 	Formation of the cornified envelope	GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK14	https://www.uniprot.org/uniprot/Q9P0G3		https://www.ncbi.nlm.nih.gov/omim/?term=606135	http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14	rs35287116	0.414137	0.4402	0.4740	0.25	3	12	exonic	exonic	exonic	KLK14	KLK14	ENSG00000129437	nonsynonymous SNV	nonsynonymous SNV	unknown	KLK14:NM_022046:exon4:c.A98G:p.Q33R,	KLK14:uc021uyk.1:exon4:c.A98G:p.Q33R,KLK14:uc002pvs.1:exon4:c.A98G:p.Q33R,	UNKNOWN	Het;T>C	1552;44|72	Hom;T>C	3271;1|128
N	N	-	19	51691092	51691092	C	T	snp	ncRNA_intronic	 	 	 	 	SIGLEC20P																		rs7255837	0.332069	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101928517(dist=5870),MIR8074(dist=19093)	BC045766(dist=5870),CD33(dist=37243)	ENSG00000268336	Na	Na	Na	Na	Na	Na	Het;C>T	96;4|4	Hom;C>T	115;0|5
N	N	-	19	51843162	51843162	G	A	snp	intronic	 	 	 	 	VSIG10L	Vsig10l	ENSG00000186806	V-set and immunoglobulin domain containing 10 like	chr19:51834790-51845378			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/VSIG10L				http://www.informatics.jax.org/searchtool/Search.do?query=VSIG10L&submit=Quick%0D%15710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VSIG10L	rs12982441	0.318291	0	0	1	0	0	intronic	intronic	intronic	VSIG10L	VSIG10L	ENSG00000186806	Na	Na	Na	Na	Na	Na	Het;G>A	98;8|7	Hom;G>A	154;1|9
N	N	-	19	51920613	51920613	C	T	snp	synonymous SNV	G144A	Q48Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SIGLEC10	Siglecg	ENSG00000142512	sialic acid binding Ig like lectin 10	chr19:51913275-51921057	SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]		Mice homozygous for a null allele exhibit increased B-1 cell numbers, increased IgM levels and IgM-producing plasma cells, and produce more IgM autoantibodies.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0007155;cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC10	https://www.uniprot.org/uniprot/Q96LC7		https://www.ncbi.nlm.nih.gov/omim/?term=606091	http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC10&submit=Quick%0D%8290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC10	rs1010425	0.834265	0.8421	0.8702	0.25	1	4	exonic	exonic	exonic;splicing	SIGLEC10	SIGLEC10	ENSG00000142512;ENSG00000142512(ENST00000530476:exon2:c.46-1G>A)	synonymous SNV	synonymous SNV	unknown	SIGLEC10:NM_001171157:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171158:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171156:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_033130:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171159:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171161:exon2:c.G144A:p.Q48Q,	SIGLEC10:uc002pwo.3:exon2:c.G144A:p.Q48Q,SIGLEC10:uc010ycz.2:exon2:c.G144A:p.Q48Q,SIGLEC10:uc010ycy.2:exon2:c.G144A:p.Q48Q,SIGLEC10:uc002pwp.3:exon2:c.G144A:p.Q48Q,SIGLEC10:uc002pwq.3:exon2:c.G144A:p.Q48Q,SIGLEC10:uc002pws.2:exon2:c.G144A:p.Q48Q,SIGLEC10:uc002pwr.3:exon2:c.G144A:p.Q48Q,	UNKNOWN	Het;C>T	1583;66|68	Hom;C>T	4357;0|148
N	N	-	19	519336	519336	G	A	snp	synonymous SNV	G786A	G262G	aliphatic,neutral	aliphatic,neutral	TPGS1	Tpgs1	ENSG00000141933	tubulin polyglutamylase complex subunit 1	chr19:507299-519654			Male mice homozygous for a gene trapped allele are sterile due to abnormal development of the spermatid flagellum. Adult males display a striking deficit in intermale aggression and reduced body fat, not due to an altered resting metabolic rate or hypophagia.	Carboxyterminal post-translational modifications of tubulin	GO:0007268;chemical synaptic transmission;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0018095;protein polyglutamylation;IEA|GO:0030154;cell differentiation;IEA|GO:0030534;adult behavior;IEA|GO:0051648;vesicle localization;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA	GO:0008017;microtubule binding;IEA|GO:0015631;tubulin binding;IEA|GO:0070740;tubulin-glutamic acid ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TPGS1	https://www.uniprot.org/uniprot/Q6ZTW0			http://www.informatics.jax.org/searchtool/Search.do?query=TPGS1&submit=Quick%0D%8231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPGS1	rs112370786	0.160343	0	0	1	0	0	exonic	exonic	exonic	TPGS1	TPGS1	ENSG00000141933	synonymous SNV	synonymous SNV	unknown	TPGS1:NM_033513:exon2:c.G786A:p.G262G,	TPGS1:uc002lou.3:exon2:c.G786A:p.G262G,	UNKNOWN	Het;G>A	53;2|4	Hom;G>A	304;0|13
N	N	-	19	52089806	52089806	T	C	snp	intronic	 	 	 	 	ZNF175	Zfp715	ENSG00000105497	zinc finger protein 175	chr19:52074551-52092991		Arthritis, Rheumatoid; Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0051607;defense response to virus;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF175	https://www.uniprot.org/uniprot/Q9Y473		https://www.ncbi.nlm.nih.gov/omim/?term=601139	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF175&submit=Quick%0D%3317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF175	rs10439118	0.169529	0	0	1	0	0	intronic	intronic	intronic	ZNF175	ZNF175	ENSG00000105497	Na	Na	Na	Na	Na	Na	Het;T>C	70;6|3	Hom;T>C	269;0|8
N	N	-	19	52095228	52095228	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01530																		rs7259387	0.838658	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	LINC01530	AX748312	ENSG00000167765(ENST00000301439:c.*661C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	109;1|3	Hom;G>A	242;0|6
N	N	-	19	52095264	52095264	C	G	snp	ncRNA_exonic	 	 	 	 	LINC01530																		rs7259184	0.808307	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	LINC01530	AX748312	ENSG00000167765(ENST00000301439:c.*625G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	422;3|11	Hom;C>G	632;0|20
N	N	-	19	52095577	52095577	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01530																		rs7259469	0.842652	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	LINC01530	AX748312	ENSG00000167765(ENST00000301439:c.*312T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	648;35|31	Hom;A>G	1536;1|53
N	N	-	19	52101918	52101918	T	C	snp	ncRNA_exonic	 	 	 	 	AC018755.3																		rs1868947	0.727835	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01530(dist=4285),SIGLEC5(dist=12838)	FLJ30403(dist=4285),SIGLEC5(dist=12838)	ENSG00000269388	Na	Na	Na	Na	Na	Na	Het;T>C	235;10|13	Hom;T>C	533;0|19
N	N	-	19	52196812	52196812	G	C	snp	ncRNA_exonic	 	 	 	 	SPACA6P																		rs11881781	0.10623	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310,ENSG00000273318	Na	Na	Na	Na	Na	Na	Het;G>C	1446;57|67	Hom;G>C	3889;0|136
N	N	-	19	52197234	52197234	G	GA	indel	ncRNA_exonic	 	 	 	 	SPACA6P																		rs35539331	0.150759	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310,ENSG00000273318	Na	Na	Na	Na	Na	Na	Het;+A	1339;73|45	Hom;+A	2880;2|76
N	N	-	19	52197275	52197275	C	CAGAG	indel	ncRNA_exonic	 	 	 	 	SPACA6P																		rs35624094	0.212061	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310,ENSG00000273318	Na	Na	Na	Na	Na	Na	Het;+AGAG	1609;69|47	Hom;+AGAG	3665;2|81
N	N	-	19	52197425	52197425	G	A	snp	ncRNA_exonic	 	 	 	 	SPACA6P																		rs73054871	0.104034	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310,ENSG00000273318	Na	Na	Na	Na	Na	Na	Het;G>A	614;54|33	Hom;G>A	2307;2|86
N	N	-	19	52197556	52197556	G	GGAGGATAGAGACTCACAGAGAGGT	indel	ncRNA_exonic	 	 	 	 	SPACA6P																		rs150736418	0.23103	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310,ENSG00000273318	Na	Na	Na	Na	Na	Na	Het;+GAGGATAGAGACTCACAGAGAGGT	2449;91|56	Hom;+GAGGATAGAGACTCACAGAGAGGT	5298;0|110
N	N	-	19	52197986	52197986	C	CT	indel	ncRNA_intronic	 	 	 	 	LINC00085																		rs3833873	0.235024	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SPACA6P	LINC00085	ENSG00000182310	Na	Na	Na	Na	Na	Na	Het;+T	75;7|4	Hom;+T	150;0|5
N	N	-	19	52204791	52204791	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00085																		rs4239495	0.397564	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SPACA6P	LINC00085	ENSG00000182310	Na	Na	Na	Na	Na	Na	Het;T>C	162;3|6	Hom;T>C	221;0|7
N	N	-	19	52204942	52204942	G	A	snp	ncRNA_exonic	 	 	 	 	SPACA6P																		rs2167418	0.152756	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310	Na	Na	Na	Na	Na	Na	Het;G>A	312;40|17	Hom;G>A	747;0|29
N	N	-	19	52205830	52205831	CA	C	indel	ncRNA_exonic	 	 	 	 	SPACA6																		rs3835114	0.409345	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310	Na	Na	Na	Na	Na	Na	Het;-A	445;23|16	Hom;-A	749;0|21
N	N	-	19	52208492	52208492	G	C	snp	ncRNA_exonic	 	 	 	 	SPACA6																		rs34764077	0.154353	0	0	1	0	0	downstream	downstream	ncRNA_exonic	SPACA6P	LINC00085	ENSG00000182310	Na	Na	Na	Na	Na	Na	Het;G>C	790;15|32	Hom;G>C	886;0|30
N	N	-	19	5231135	5231135	T	C	snp	intronic	 	 	 	 	PTPRS	Ptprs	ENSG00000105426	protein tyrosine phosphatase, receptor type S	chr19:5158506-5340814	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]	Alcoholism; Type 2 diabetes; Cell Transformation, Neoplastic|Colorectal Neoplasms|Microsatellite Instability	Almost half of null homozygotes die in the first day of life.  Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs.  Adult mice are small, lack estrus, have decreased litter sizes and have impairedolfaction.	Synaptic adhesion-like molecules	GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0021510;spinal cord development;IEA|GO:0021549;cerebellum development;IEA|GO:0021766;hippocampus development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0022038;corpus callosum development;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0032687;negative regulation of interferon-alpha production;IMP|GO:0032688;negative regulation of interferon-beta production;IMP|GO:0034164;negative regulation of toll-like receptor 9 signaling pathway;IMP|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0090557;establishment of endothelial intestinal barrier;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030285;integral component of synaptic vesicle membrane;ISS|GO:0030424;axon;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043204;perikaryon;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0099061;integral component of postsynaptic density membrane;ISS	GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0035374;chondroitin sulfate binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PTPRS	https://www.uniprot.org/uniprot/Q13332		https://www.ncbi.nlm.nih.gov/omim/?term=601576	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRS&submit=Quick%0D%3303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRS	rs4807015	0.392372	0	0	1	0	0	intronic	intronic	intronic	PTPRS	PTPRS	ENSG00000105426	Na	Na	Na	Na	Na	Na	Het;T>C	40;2|2	Hom;T>C	131;0|4
N	N	-	19	52825235	52825235	A	G	snp	synonymous SNV	A732G	S244S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF480	 	ENSG00000198464	zinc finger protein 480	chr19:52800430-52829175		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF480			https://www.ncbi.nlm.nih.gov/omim/?term=613910	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF480&submit=Quick%0D%16900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF480	rs8102373	0.526358	0.5657	0.5615	1	0	0	exonic	exonic	exonic	ZNF480	ZNF480	ENSG00000198464	synonymous SNV	synonymous SNV	unknown	ZNF480:NM_001297624:exon4:c.A603G:p.S201S,ZNF480:NM_001297625:exon4:c.A501G:p.S167S,ZNF480:NM_144684:exon5:c.A732G:p.S244S,	ZNF480:uc010ydl.2:exon5:c.A732G:p.S244S,ZNF480:uc010epn.3:exon3:c.A225G:p.S75S,ZNF480:uc010ydm.2:exon4:c.A603G:p.S201S,ZNF480:uc002pyv.3:exon4:c.A501G:p.S167S,	UNKNOWN	Het;A>G	65;5|3	Hom;A>G	292;0|8
N	N	-	19	52898113	52898114	GA	G	indel	ncRNA_exonic	 	 	 	 	AK097590																		rs11285877	0	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_intronic	ZNF528-AS1	AK097590,BX537909	ENSG00000269834	Na	Na	Na	Na	Na	Na	Het;-A	978;76|53	Hom;-A	2155;1|84
N	N	-	19	52899556	52899556	C	T	snp	ncRNA_intronic	 	 	 	 	AK097590																		rs324119	0.899161	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ZNF528-AS1	AK097590,BX537909	ENSG00000269834	Na	Na	Na	Na	Na	Na	Het;C>T	268;13|13	Hom;C>T	957;0|34
N	N	-	19	52900985	52900985	G	GCCCGGCCCAGGCTTTGT	indel	ncRNA_exonic	 	 	 	 	ZNF528-AS1																		rs11268175	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZNF528-AS1	AK097590,BX537909	ENSG00000269834	Na	Na	Na	Na	Na	Na	Het;+CCCGGCCCAGGCTTTGT	1060;47|30	Hom;+CCCGGCCCAGGCTTTGT	3075;0|75
N	N	-	19	52909303	52909303	C	T	snp	intronic	 	 	 	 	ZNF528	 	ENSG00000167555	zinc finger protein 528	chr19:52901102-52921665			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF528			https://www.ncbi.nlm.nih.gov/omim/?term=615580	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF528&submit=Quick%0D%12042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF528	rs2290745	0.501997	0.6378	0.6596	1	0	0	intronic	intronic	intronic	ZNF528	ZNF528	ENSG00000167555	Na	Na	Na	Na	Na	Na	Het;C>T	612;20|26	Hom;C>T	1647;0|60
N	N	-	19	52909989	52909989	A	G	snp	UTR3	*43A>G	 	 	 	ZNF528	 	ENSG00000167555	zinc finger protein 528	chr19:52901102-52921665			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF528			https://www.ncbi.nlm.nih.gov/omim/?term=615580	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF528&submit=Quick%0D%12042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF528	rs11668956	0.480232	0	0.6621	1	0	0	intronic	intronic	UTR3	ZNF528	ZNF528	ENSG00000167555(ENST00000594530:c.*43A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	112;5|5	Hom;A>G	274;0|9
N	N	-	19	52920006	52920006	C	CTG	indel	UTR3	*1664C>CTG	 	 	 	ZNF528	 	ENSG00000167555	zinc finger protein 528	chr19:52901102-52921665			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF528			https://www.ncbi.nlm.nih.gov/omim/?term=615580	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF528&submit=Quick%0D%12042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF528	rs10664588	0.711462	0.7923	0.7932	1	0	0	UTR3	UTR3	UTR3	ZNF528(NM_032423:c.*14C>CTG)	ZNF528(uc002pzh.3:c.*14C>CTG,uc002pzi.3:c.*14C>CTG,uc031rmk.1:c.*14C>CTG)	ENSG00000167555(ENST00000391788:c.*1664C>CTG,ENST00000360465:c.*14C>CTG)	Na	Na	Na	Na	Na	Na	Het;+TG	661;15|18	Hom;+TG	1097;0|26
N	N	-	19	53302453	53302453	A	G	snp	UTR3	*488T>C	 	 	 	ZNF28	 	ENSG00000198538	zinc finger protein 28	chr19:53300662-53360853			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF28				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF28&submit=Quick%0D%16919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF28	rs10407516	0.880391	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF28(NM_006969:c.*488T>C)	ZNF28(uc002qac.3:c.*488T>C,uc002qad.3:c.*488T>C,uc010eqe.3:c.*488T>C)	ENSG00000198538(ENST00000457749:c.*488T>C,ENST00000438150:c.*488T>C,ENST00000360272:c.*488T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	131;5|5	Hom;A>G	627;0|16
N	N	-	19	53302481	53302481	A	G	snp	UTR3	*460T>C	 	 	 	ZNF28	 	ENSG00000198538	zinc finger protein 28	chr19:53300662-53360853			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF28				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF28&submit=Quick%0D%16919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF28	rs10407539	0.880391	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF28(NM_006969:c.*460T>C)	ZNF28(uc002qac.3:c.*460T>C,uc002qad.3:c.*460T>C,uc010eqe.3:c.*460T>C)	ENSG00000198538(ENST00000457749:c.*460T>C,ENST00000438150:c.*460T>C,ENST00000360272:c.*460T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	308;15|12	Hom;A>G	1028;0|31
N	N	-	19	53302622	53302622	C	T	snp	UTR3	*319G>A	 	 	 	ZNF28	 	ENSG00000198538	zinc finger protein 28	chr19:53300662-53360853			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF28				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF28&submit=Quick%0D%16919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF28	rs10408156	0.879992	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF28(NM_006969:c.*319G>A)	ZNF28(uc002qac.3:c.*319G>A,uc002qad.3:c.*319G>A,uc010eqe.3:c.*319G>A)	ENSG00000198538(ENST00000457749:c.*319G>A,ENST00000438150:c.*319G>A,ENST00000360272:c.*319G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1385;118|78	Hom;C>T	4416;0|171
N	N	-	19	53302737	53302737	T	C	snp	UTR3	*204A>G	 	 	 	ZNF28	 	ENSG00000198538	zinc finger protein 28	chr19:53300662-53360853			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF28				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF28&submit=Quick%0D%16919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF28	rs10410012	0.852835	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF28(NM_006969:c.*204A>G)	ZNF28(uc002qac.3:c.*204A>G,uc002qad.3:c.*204A>G,uc010eqe.3:c.*204A>G)	ENSG00000198538(ENST00000457749:c.*204A>G,ENST00000438150:c.*204A>G,ENST00000360272:c.*204A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	615;28|24	Hom;T>C	1268;0|38
N	N	-	19	53313419	53313419	G	C	snp	ncRNA_exonic	 	 	 	 	AC008813.1																		rs1974830	0.574681	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ZNF28	ZNF28	ENSG00000255875	Na	Na	Na	Na	Na	Na	Het;G>C	176;11|7	Hom;G>C	246;0|9
N	N	-	19	53320936	53320936	G	A	snp	intronic	 	 	 	 	ZNF28	 	ENSG00000198538	zinc finger protein 28	chr19:53300662-53360853			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF28				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF28&submit=Quick%0D%16919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF28	rs12459194	0.458267	0	0	1	0	0	intronic	intronic	intronic	ZNF28	ZNF28	ENSG00000198538	Na	Na	Na	Na	Na	Na	Het;G>A	159;3|8	Hom;G>A	305;0|11
N	N	-	19	53320975	53320975	A	C	snp	intronic	 	 	 	 	ZNF28	 	ENSG00000198538	zinc finger protein 28	chr19:53300662-53360853			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF28				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF28&submit=Quick%0D%16919ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF28	rs12459162	0.459065	0	0	1	0	0	intronic	intronic	intronic	ZNF28	ZNF28	ENSG00000198538	Na	Na	Na	Na	Na	Na	Het;A>C	157;1|6	Hom;A>C	185;0|6
N	N	-	19	53360861	53360861	A	G	snp	UTR5	-15474T>C	 	 	 	ZNF468	 	ENSG00000204604	zinc finger protein 468	chr19:53341261-53360902			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF468			https://www.ncbi.nlm.nih.gov/omim/?term=616841	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF468&submit=Quick%0D%17353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF468	rs11673701	0.290535	0	0	1	0	0	UTR5	UTR5	UTR5	ZNF468(NM_001277120:c.-3336T>C,NM_001008801:c.-3336T>C)	ZNF468(uc021uzb.2:c.-15474T>C,uc031rmr.1:c.-15474T>C,uc002qae.4:c.-3336T>C,uc031rms.1:c.-8488T>C,uc002qaf.3:c.-3336T>C)	ENSG00000204604(ENST00000595646:c.-3336T>C,ENST00000390651:c.-15474T>C,ENST00000396409:c.-15474T>C,ENST00000243639:c.-3336T>C,ENST00000597924:c.-3336T>C,ENST00000602144:c.-3336T>C,ENST00000601980:c.-3582T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	332;29|13	Hom;A>G	585;0|19
N	N	-	19	53970930	53970930	T	C	snp	upstream	 	 	 	 	ZNF813	 	ENSG00000198346	zinc finger protein 813	chr19:53970989-54006950		Tobacco Use Disorder; Coronary Artery Disease	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF813				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF813&submit=Quick%0D%16873ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF813	rs1968829	0.379792	0	0	1	0	0	upstream	upstream	upstream	ZNF813	ZNF813	ENSG00000198346	Na	Na	Na	Na	Na	Na	Het;T>C	185;2|8	Hom;T>C	135;0|6
N	N	-	19	54378789	54378789	C	G	snp	UTR3	*1037C>G	 	 	 	MYADM	Myadm	ENSG00000179820	myeloid associated differentiation marker	chr19:54369477-54379691			 		GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0010629;negative regulation of gene expression;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0030837;negative regulation of actin filament polymerization;IMP|GO:0031579;membrane raft organization;IMP|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IDA|GO:0061028;establishment of endothelial barrier;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090038;negative regulation of protein kinase C signaling;IMP|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP	GO:0001726;ruffle;IDA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0045121;membrane raft;IDA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MYADM			https://www.ncbi.nlm.nih.gov/omim/?term=609959	http://www.informatics.jax.org/searchtool/Search.do?query=MYADM&submit=Quick%0D%14386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYADM	rs307936	0.794728	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	MYADM(NM_001290193:c.*1037C>G,NM_001020820:c.*1037C>G,NM_001290188:c.*1037C>G,NM_001020819:c.*1037C>G,NM_001290191:c.*1037C>G,NM_001290192:c.*1037C>G,NM_001290194:c.*1037C>G,NM_138373:c.*1037C>G,NM_001290190:c.*1037C>G,NM_001020818:c.*1037C>G,NM_001020821:c.*1037C>G,NM_001290189:c.*1037C>G)	MYADM(uc002qcl.3:c.*1037C>G,uc002qcm.3:c.*1037C>G,uc002qcn.3:c.*1037C>G,uc002qco.3:c.*1037C>G,uc002qcp.3:c.*1037C>G)	ENSG00000232220	Na	Na	Na	Na	Na	Na	Het;C>G	144;2|6	Hom;C>G	423;0|16
N	N	-	19	54483337	54483337	T	C	snp	intronic	 	 	 	 	CACNG8	Cacng8	ENSG00000142408	calcium voltage-gated channel auxiliary subunit gamma 8	chr19:54466294-54493469	The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]		Targeted null mutations of this gene result in altered hippocampal AMPA receptor number, distribution and synaptic plasticity. Mice homozygous for one knock-out allele exhibit significantly impaired long term potentiation in hippocampal CA1 synapses.	LGI-ADAM interactions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0019226;transmission of nerve impulse;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:2000311;regulation of AMPA receptor activity;IDA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;NAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;NAS|GO:0005262;calcium channel activity;IEA|GO:0016247;channel regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CACNG8	https://www.uniprot.org/uniprot/Q8WXS5		https://www.ncbi.nlm.nih.gov/omim/?term=606900	http://www.informatics.jax.org/searchtool/Search.do?query=CACNG8&submit=Quick%0D%8280ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG8	rs202060954	0.367812	0	0	1	0	0	intronic	intronic	intronic	CACNG8	CACNG8	ENSG00000142408	Na	Na	Na	Na	Na	Na	Het;T>C	461;34|16	Hom;T>C	1409;1|35
N	N	-	19	54483339	54483339	T	C	snp	intronic	 	 	 	 	CACNG8	Cacng8	ENSG00000142408	calcium voltage-gated channel auxiliary subunit gamma 8	chr19:54466294-54493469	The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]		Targeted null mutations of this gene result in altered hippocampal AMPA receptor number, distribution and synaptic plasticity. Mice homozygous for one knock-out allele exhibit significantly impaired long term potentiation in hippocampal CA1 synapses.	LGI-ADAM interactions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0019226;transmission of nerve impulse;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:2000311;regulation of AMPA receptor activity;IDA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;NAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;NAS|GO:0005262;calcium channel activity;IEA|GO:0016247;channel regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CACNG8	https://www.uniprot.org/uniprot/Q8WXS5		https://www.ncbi.nlm.nih.gov/omim/?term=606900	http://www.informatics.jax.org/searchtool/Search.do?query=CACNG8&submit=Quick%0D%8280ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG8	rs12979538	0.669728	0	0	1	0	0	intronic	intronic	intronic	CACNG8	CACNG8	ENSG00000142408	Na	Na	Na	Na	Na	Na	Het;T>C	464;33|15	Hom;T>C	1445;1|36
N	N	-	19	54578435	54578435	T	TTTA	indel	intronic	 	 	 	 	TARM1	Tarm1	ENSG00000277178	T-cell-interacting, activating receptor on myeloid cells 1	chr19:54573149-54584634			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/TARM1			https://www.ncbi.nlm.nih.gov/omim/?term=616802	http://www.informatics.jax.org/searchtool/Search.do?query=TARM1&submit=Quick%0D%21776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TARM1	rs113066902	0.39976	0	0	1	0	0	intronic	intronic	intronic	TARM1	TARM1	ENSG00000248385	Na	Na	Na	Na	Na	Na	Het;+TTA	408;1|11	Hom;+TTA	816;0|19
N	N	-	19	54604194	54604194	G	C	snp	UTR5	-111C>G	 	 	 	OSCAR	Oscar	ENSG00000278533	osteoclast associated, immunoglobulin-like receptor	chr19:54597933-54606000	Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Bone Mineral Density	Bone marrow macrophage from mice homozygous for a knock-out allele exhibit impaired osteoclast differentiation.	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS|GO:0050776;regulation of immune response;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS		http://www.genecards.org/index.php?path=/Search/keyword/OSCAR			https://www.ncbi.nlm.nih.gov/omim/?term=606862	http://www.informatics.jax.org/searchtool/Search.do?query=OSCAR&submit=Quick%0D%22071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OSCAR	rs3760698	0.344449	0	0.4394	1	0	0	UTR5	UTR5	UTR5	OSCAR(NM_133169:c.-111C>G,NM_206818:c.-111C>G,NM_130771:c.-111C>G,NM_133168:c.-111C>G,NM_001282349:c.-111C>G,NM_001282350:c.-111C>G)	OSCAR(uc002qcy.3:c.-111C>G,uc002qcz.3:c.-111C>G,uc002qda.3:c.-111C>G,uc002qdb.3:c.-111C>G,uc002qdc.3:c.-36C>G,uc002qdd.3:c.-36C>G)	ENSG00000170909(ENST00000284648:c.-111C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	67;9|4	Hom;G>C	189;0|7
N	N	-	19	54606405	54606405	T	C	snp	intronic	 	 	 	 	NDUFA3	Ndufa3	ENSG00000276061	NADH:ubiquinone oxidoreductase subunit A3	chr19:54606036-54612564		cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; drug-related genes 	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005747;mitochondrial respiratory chain complex I;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA3			https://www.ncbi.nlm.nih.gov/omim/?term=603832	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA3&submit=Quick%0D%21515ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA3	rs254259	0.525759	0.5823	0.5384	1	0	0	intronic	intronic	intronic	NDUFA3	NDUFA3	ENSG00000170906	Na	Na	Na	Na	Na	Na	Het;T>C	1003;39|43	Hom;T>C	2929;0|104
N	N	-	19	54609170	54609170	A	G	snp	intronic	 	 	 	 	NDUFA3	Ndufa3	ENSG00000276061	NADH:ubiquinone oxidoreductase subunit A3	chr19:54606036-54612564		cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; drug-related genes 	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005747;mitochondrial respiratory chain complex I;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA3			https://www.ncbi.nlm.nih.gov/omim/?term=603832	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA3&submit=Quick%0D%21515ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA3	rs254256	0.529153	0	0	1	0	0	intronic	intronic	intronic	NDUFA3	NDUFA3	ENSG00000170906	Na	Na	Na	Na	Na	Na	Het;A>G	381;11|10	Hom;A>G	561;0|14
N	N	-	19	54609178	54609178	C	G	snp	intronic	 	 	 	 	NDUFA3	Ndufa3	ENSG00000276061	NADH:ubiquinone oxidoreductase subunit A3	chr19:54606036-54612564		cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; drug-related genes 	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005747;mitochondrial respiratory chain complex I;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA3			https://www.ncbi.nlm.nih.gov/omim/?term=603832	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA3&submit=Quick%0D%21515ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA3	rs254255	0.469649	0	0	1	0	0	intronic	intronic	intronic	NDUFA3	NDUFA3	ENSG00000170906	Na	Na	Na	Na	Na	Na	Het;C>G	396;13|12	Hom;C>G	594;0|14
N	N	-	19	54611287	54611287	G	A	snp	intronic	 	 	 	 	TFPT	Tfpt	ENSG00000278161	TCF3 fusion partner	chr19:54610320-54619055		Cholesterol	 	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016579;protein deubiquitination;TAS|GO:0097190;apoptotic signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;ISS|GO:0031011;Ino80 complex;IDA|GO:0031965;nuclear membrane;IDA	GO:0003677;DNA binding;ISS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TFPT	https://www.uniprot.org/uniprot/P0C1Z6		https://www.ncbi.nlm.nih.gov/omim/?term=609519	http://www.informatics.jax.org/searchtool/Search.do?query=TFPT&submit=Quick%0D%21976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TFPT	rs621147	0.45627	0.5102	0.4810	1	0	0	intronic	intronic	intronic	TFPT	TFPT	ENSG00000105619,ENSG00000170906	Na	Na	Na	Na	Na	Na	Het;G>A	640;32|32	Hom;G>A	967;0|38
N	N	-	19	54611560	54611560	C	G	snp	intronic	 	 	 	 	TFPT	Tfpt	ENSG00000278161	TCF3 fusion partner	chr19:54610320-54619055		Cholesterol	 	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016579;protein deubiquitination;TAS|GO:0097190;apoptotic signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;ISS|GO:0031011;Ino80 complex;IDA|GO:0031965;nuclear membrane;IDA	GO:0003677;DNA binding;ISS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TFPT	https://www.uniprot.org/uniprot/P0C1Z6		https://www.ncbi.nlm.nih.gov/omim/?term=609519	http://www.informatics.jax.org/searchtool/Search.do?query=TFPT&submit=Quick%0D%21976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TFPT	rs254263	0.459465	0.5143	0.5308	1	0	0	intronic	intronic	intronic	TFPT	TFPT	ENSG00000105619,ENSG00000170906	Na	Na	Na	Na	Na	Na	Het;C>G	818;51|37	Hom;C>G	3338;0|114
N	N	-	19	54627039	54627043	GCACA	G	indel	ncRNA_exonic	 	 	 	 	AC245052.4																		rs35291886	0	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PRPF31	PRPF31	ENSG00000237017	Na	Na	Na	Na	Na	Na	Het;-CACA	569;8|15	Hom;-CACA	1494;0|34
N	N	-	19	54631378	54631378	T	C	snp	intronic	 	 	 	 	PRPF31	Prpf31	ENSG00000277953	pre-mRNA processing factor 31	chr19:54618837-54635140	This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]	Retinitis Pigmentosa; Retinal Diseases; retinitis pigmentosa; Triglycerides	Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced.	mRNA Splicing - Major Pathway	GO:0000244;spliceosomal tri-snRNP complex assembly;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0071166;ribonucleoprotein complex localization;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005684;U2-type spliceosomal complex;IC|GO:0005687;U4 snRNP;IDA|GO:0005690;U4atac snRNP;TAS|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IDA|GO:0071011;precatalytic spliceosome;IBA|GO:0071339;MLL1 complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030621;U4 snRNA binding;IDA|GO:0030622;U4atac snRNA binding;IDA|GO:0043021;ribonucleoprotein complex binding;IDA|GO:0070990;snRNP binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRPF31	https://www.uniprot.org/uniprot/Q8WWY3	https://hpo.jax.org/app/browse/search?q=PRPF31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606419	http://www.informatics.jax.org/searchtool/Search.do?query=PRPF31&submit=Quick%0D%21934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPF31	rs171703	0.773562	0	0	1	0	0	intronic	intronic	intronic	PRPF31	PRPF31	ENSG00000105618	Na	Na	Na	Na	Na	Na	Het;T>C	443;11|12	Hom;T>C	551;0|13
N	N	-	19	54631880	54631880	T	C	snp	intronic	 	 	 	 	PRPF31	Prpf31	ENSG00000277953	pre-mRNA processing factor 31	chr19:54618837-54635140	This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]	Retinitis Pigmentosa; Retinal Diseases; retinitis pigmentosa; Triglycerides	Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced.	mRNA Splicing - Major Pathway	GO:0000244;spliceosomal tri-snRNP complex assembly;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0071166;ribonucleoprotein complex localization;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005684;U2-type spliceosomal complex;IC|GO:0005687;U4 snRNP;IDA|GO:0005690;U4atac snRNP;TAS|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IDA|GO:0071011;precatalytic spliceosome;IBA|GO:0071339;MLL1 complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030621;U4 snRNA binding;IDA|GO:0030622;U4atac snRNA binding;IDA|GO:0043021;ribonucleoprotein complex binding;IDA|GO:0070990;snRNP binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRPF31	https://www.uniprot.org/uniprot/Q8WWY3	https://hpo.jax.org/app/browse/search?q=PRPF31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606419	http://www.informatics.jax.org/searchtool/Search.do?query=PRPF31&submit=Quick%0D%21934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPF31	rs10417221	0.765176	0	0	1	0	0	intronic	intronic	intronic	PRPF31	PRPF31	ENSG00000105618	Na	Na	Na	Na	Na	Na	Het;T>C	108;8|4	Hom;T>C	84;0|4
N	N	-	19	54632423	54632423	T	C	snp	intronic	 	 	 	 	PRPF31	Prpf31	ENSG00000277953	pre-mRNA processing factor 31	chr19:54618837-54635140	This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]	Retinitis Pigmentosa; Retinal Diseases; retinitis pigmentosa; Triglycerides	Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced.	mRNA Splicing - Major Pathway	GO:0000244;spliceosomal tri-snRNP complex assembly;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0071166;ribonucleoprotein complex localization;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005684;U2-type spliceosomal complex;IC|GO:0005687;U4 snRNP;IDA|GO:0005690;U4atac snRNP;TAS|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IDA|GO:0071011;precatalytic spliceosome;IBA|GO:0071339;MLL1 complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030621;U4 snRNA binding;IDA|GO:0030622;U4atac snRNA binding;IDA|GO:0043021;ribonucleoprotein complex binding;IDA|GO:0070990;snRNP binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRPF31	https://www.uniprot.org/uniprot/Q8WWY3	https://hpo.jax.org/app/browse/search?q=PRPF31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606419	http://www.informatics.jax.org/searchtool/Search.do?query=PRPF31&submit=Quick%0D%21934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPF31	rs655240	0.753195	0.8256	0.8197	1	0	0	intronic	intronic	intronic	PRPF31	PRPF31	ENSG00000105618	Na	Na	Na	Na	Na	Na	Het;T>C	892;17|36	Hom;T>C	1279;0|43
N	N	-	19	54652203	54652203	T	C	snp	synonymous SNV	T1215C	G405G	aliphatic,neutral	aliphatic,neutral	CNOT3	Cnot3	ENSG00000277615	CCR4-NOT transcription complex subunit 3	chr19:54641444-54659419		CNOT3 syndrome	Mice homozygous for a knock-out allele show defective outgrowth of the inner cell mass and complete embryonic lethality at implantation. Heterozygotes exhibit decreased cardiac muscle contractility and develop severe cardiomyopathy leading to heart failure in response to pressure overload.	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain	GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:2000036;regulation of stem cell population maintenance;IMP	GO:0000932;P-body;IBA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNOT3	https://www.uniprot.org/uniprot/O75175		https://www.ncbi.nlm.nih.gov/omim/?term=604910	http://www.informatics.jax.org/searchtool/Search.do?query=CNOT3&submit=Quick%0D%21866ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT3	rs43211	0.727037	0.8011	0.7709	1	0	0	exonic	exonic	exonic	CNOT3	CNOT3	ENSG00000088038	synonymous SNV	synonymous SNV	unknown	CNOT3:NM_014516:exon11:c.T1215C:p.G405G,	CNOT3:uc002qdj.2:exon11:c.T1215C:p.G405G,CNOT3:uc010yel.2:exon11:c.T1215C:p.G405G,CNOT3:uc002qdi.3:exon10:c.T954C:p.G318G,CNOT3:uc002qdk.2:exon10:c.T1215C:p.G405G,	UNKNOWN	Het;T>C	854;42|39	Hom;T>C	1743;0|57
N	N	-	19	54667709	54667711	CTT	C	indel	intronic	 	 	 	 	TMC4	Tmc4	ENSG00000278363	transmembrane channel like 4	chr19:54663846-54676944			 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TMC4			https://www.ncbi.nlm.nih.gov/omim/?term=617181	http://www.informatics.jax.org/searchtool/Search.do?query=TMC4&submit=Quick%0D%22031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC4	rs746609863	0	0	0	1	0	0	intronic	intronic	intronic	TMC4	TMC4	ENSG00000167608	Na	Na	Na	Na	Na	Na	Het;-TT	81;1|5	Hom;-TT	142;0|6
N	N	-	19	55014674	55014674	C	CCAA	indel	intronic	 	 	 	 	LAIR2		ENSG00000277335	leukocyte associated immunoglobulin like receptor 2	chr19:55009100-55021897	The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]			Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0050776;regulation of immune response;TAS	GO:0005576;extracellular region;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAIR2			https://www.ncbi.nlm.nih.gov/omim/?term=602993	http://www.informatics.jax.org/searchtool/Search.do?query=LAIR2&submit=Quick%0D%21807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAIR2	rs111754128	0	0	0	1	0	0	intronic	intronic	intronic	LAIR2	LAIR2	ENSG00000167618	Na	Na	Na	Na	Na	Na	Het;+CAA	390;10|12	Hom;+CAA	538;0|12
N	N	-	19	55207838	55207838	G	C	snp	upstream	 	 	 	 	LILRP1																		rs6509895	0.855831	0	0	1	0	0	intergenic	intergenic	upstream	LILRB4(dist=26028),LILRP2(dist=11862)	LILRB4(dist=27992),LILRP2(dist=11763)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;G>C	59;13|3	Hom;G>C	467;0|11
N	N	-	19	55207843	55207843	A	C	snp	upstream	 	 	 	 	LILRP1																		rs10402018	0.855831	0	0	1	0	0	intergenic	intergenic	upstream	LILRB4(dist=26033),LILRP2(dist=11857)	LILRB4(dist=27997),LILRP2(dist=11758)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;A>C	62;12|3	Hom;A>C	467;0|11
N	N	-	19	55207848	55207848	A	G	snp	upstream	 	 	 	 	LILRP1																		rs6509896	0.816094	0	0	1	0	0	intergenic	intergenic	upstream	LILRB4(dist=26038),LILRP2(dist=11852)	LILRB4(dist=28002),LILRP2(dist=11753)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;A>G	65;11|3	Hom;A>G	332;0|7
N	N	-	19	55208353	55208353	A	G	snp	upstream	 	 	 	 	LILRP1																		rs1972789	0.855831	0	0	1	0	0	intergenic	intergenic	upstream	LILRB4(dist=26543),LILRP2(dist=11347)	LILRB4(dist=28507),LILRP2(dist=11248)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;A>G	924;22|25	Hom;A>G	2358;0|54
N	N	-	19	55209313	55209313	G	C	snp	ncRNA_intronic	 	 	 	 	LILRP1																		rs4806810	0.688099	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LILRB4(dist=27503),LILRP2(dist=10387)	LILRB4(dist=29467),LILRP2(dist=10288)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;G>C	559;55|27	Hom;G>C	2290;1|78
N	N	-	19	55209659	55209659	A	C	snp	ncRNA_exonic	 	 	 	 	LILRP1																		rs1811381	0.820288	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LILRB4(dist=27849),LILRP2(dist=10041)	LILRB4(dist=29813),LILRP2(dist=9942)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;A>C	2667;75|69	Hom;A>C	6695;0|148
N	N	-	19	55209663	55209663	C	T	snp	ncRNA_exonic	 	 	 	 	LILRP1																		rs8105387	0.856829	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LILRB4(dist=27853),LILRP2(dist=10037)	LILRB4(dist=29817),LILRP2(dist=9938)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;C>T	2713;77|72	Hom;C>T	6720;0|155
N	N	-	19	55209763	55209763	C	G	snp	ncRNA_intronic	 	 	 	 	LILRP1																		rs8105505	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LILRB4(dist=27953),LILRP2(dist=9937)	LILRB4(dist=29917),LILRP2(dist=9838)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;C>G	1141;30|30	Hom;C>G	2984;4|72
N	N	-	19	55209827	55209827	T	G	snp	ncRNA_intronic	 	 	 	 	LILRP1																		rs6509897	0.85623	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LILRB4(dist=28017),LILRP2(dist=9873)	LILRB4(dist=29981),LILRP2(dist=9774)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;T>G	120;4|5	Hom;T>G	273;0|9
N	N	-	19	55210402	55210402	T	C	snp	ncRNA_intronic	 	 	 	 	LILRP1																		rs2025560	0.861222	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LILRB4(dist=28592),LILRP2(dist=9298)	LILRB4(dist=30556),LILRP2(dist=9199)	ENSG00000186152	Na	Na	Na	Na	Na	Na	Het;T>C	180;4|6	Hom;T>C	645;0|19
N	N	-	19	55266496	55266496	A	G	snp	nonsynonymous SNV	A1G	M1V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	KIR2DS4		ENSG00000284408	killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4	chr19:55344131-55360024	Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Leukemia, Myeloid, Acute; Spondylitis, Ankylosing; pregnancy loss; Malaria; Behcet Syndrome; Abortion, Habitual|Abortion, Spontaneous|Autoimmune Diseases; Leptospirosis|Swamp fever; leukemia; Hepatitis B, Chronic; rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Vogt-Koyanagi-Harada syndrome; Diabetes Mellitus, Type 1|; Hepatitis C|Substance Abuse, Intravenous; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Osteoarthritis|Spondylitis, Ankylosing; Cytomegalovirus Infections|Postoperative Complications; Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; normal variation; Uveomeningoencephalitic Syndrome; diabetes, type 1 ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; diabetes, type 2; Sjogren's Syndrome; HIV Infections|[X]Human immunodeficiency virus disease; respiratory papillomatosis; Familial Mediterranean Fever|; null; Multiple Sclerosis; Hepatitis C|HIV Infections; Leprosy; Graves disease; Autoimmune Diseases|Gastritis; Psoriasis; systemic lupus erythematosus ; spontaneous abortion; Hepatitis C, Chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis|Liver Neoplasms|Recurrence; bladder cancer colorectal cancer laryngeal cancer; acute GVHD; Cytomegalovirus Infections|Epstein-Barr Virus Infections|Polyomavirus Infections|Recurrence|Tumor Virus Infections; Chorioretinitis|; Graft vs Host Disease|Leukemia|Leukemia, Myeloid|Myeloid Leukemia|Neoplasm Recurrence, Local; neuroblastoma; systemic lupus erythematosus; cervical cancer; Axial Spondyloarthropathy; Hemorrhagic Fever, Ebola						http://www.genecards.org/index.php?path=/Search/keyword/KIR2DS4			https://www.ncbi.nlm.nih.gov/omim/?term=604955	http://www.informatics.jax.org/searchtool/Search.do?query=KIR2DS4&submit=Quick%0D%23009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIR2DS4	rs28715756	0.221645	0	0.2039	1	0	0	intergenic	exonic	ncRNA_exonic	KIR2DL3(dist=1992),LOC101928804(dist=14378)	KIR2DS4	ENSG00000242473	Na	nonsynonymous SNV	Na	Na	KIR2DS4:uc010yfj.2:exon1:c.A1G:p.M1V,	Na	Het;A>G	655;4|28	Hom;A>G	545;0|20
N	N	-	19	55417731	55417731	G	A	snp	intronic	 	 	 	 	NCR1	Ncr1	ENSG00000284208	natural cytotoxicity triggering receptor 1	chr19:55417508-55427508			Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses.					http://www.genecards.org/index.php?path=/Search/keyword/NCR1			https://www.ncbi.nlm.nih.gov/omim/?term=604530	http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1	rs2278427	0.180112	0.0712	0.1373	1	0	0	intronic	intronic	intronic	NCR1	NCR1	ENSG00000189430	Na	Na	Na	Na	Na	Na	Het;G>A	797;36|39	Hom;G>A	2103;0|73
N	N	-	19	55418054	55418054	A	C	snp	nonsynonymous SNV	A244C	K82Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NCR1	Ncr1	ENSG00000284208	natural cytotoxicity triggering receptor 1	chr19:55417508-55427508			Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses.					http://www.genecards.org/index.php?path=/Search/keyword/NCR1			https://www.ncbi.nlm.nih.gov/omim/?term=604530	http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1	rs2278428	0.176717	0.0657	0.1328	1	0	0	exonic	exonic	exonic	NCR1	NCR1	ENSG00000189430	nonsynonymous SNV	nonsynonymous SNV	unknown	NCR1:NM_001145457:exon3:c.A244C:p.K82Q,NCR1:NM_004829:exon3:c.A244C:p.K82Q,NCR1:NM_001145458:exon3:c.A244C:p.K82Q,	NCR1:uc002qib.2:exon3:c.A244C:p.K82Q,NCR1:uc002qie.2:exon3:c.A244C:p.K82Q,NCR1:uc002qic.2:exon3:c.A244C:p.K82Q,	UNKNOWN	Het;A>C	1673;80|78	Hom;A>C	4313;2|154
N	N	-	19	55420461	55420461	A	G	snp	intronic	 	 	 	 	NCR1	Ncr1	ENSG00000284208	natural cytotoxicity triggering receptor 1	chr19:55417508-55427508			Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses.					http://www.genecards.org/index.php?path=/Search/keyword/NCR1			https://www.ncbi.nlm.nih.gov/omim/?term=604530	http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1	rs7257673	0.485423	0	0	1	0	0	intronic	intronic	intronic	NCR1	NCR1	ENSG00000189430	Na	Na	Na	Na	Na	Na	Het;A>G	99;2|4	Hom;A>G	79;0|3
N	N	-	19	55420801	55420801	C	A	snp	synonymous SNV	C553A	R185R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	NCR1	Ncr1	ENSG00000284208	natural cytotoxicity triggering receptor 1	chr19:55417508-55427508			Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses.					http://www.genecards.org/index.php?path=/Search/keyword/NCR1			https://www.ncbi.nlm.nih.gov/omim/?term=604530	http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1	rs3765013	0.483227	0.3631	0.3390	1	0	0	exonic	exonic	exonic	NCR1	NCR1	ENSG00000189430	synonymous SNV	synonymous SNV	unknown	NCR1:NM_001145457:exon4:c.C553A:p.R185R,NCR1:NM_001242356:exon3:c.C268A:p.R90R,NCR1:NM_004829:exon4:c.C553A:p.R185R,NCR1:NM_001145458:exon4:c.C553A:p.R185R,NCR1:NM_001242357:exon3:c.C268A:p.R90R,	NCR1:uc002qib.2:exon4:c.C553A:p.R185R,NCR1:uc002qid.2:exon3:c.C268A:p.R90R,NCR1:uc010esj.2:exon2:c.C232A:p.R78R,NCR1:uc002qif.2:exon3:c.C268A:p.R90R,NCR1:uc002qie.2:exon4:c.C553A:p.R185R,NCR1:uc002qic.2:exon4:c.C553A:p.R185R,	UNKNOWN	Het;C>A	2776;123|132	Hom;C>A	6431;1|237
N	N	-	19	55420924	55420924	C	G	snp	intronic	 	 	 	 	NCR1	Ncr1	ENSG00000284208	natural cytotoxicity triggering receptor 1	chr19:55417508-55427508			Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses.					http://www.genecards.org/index.php?path=/Search/keyword/NCR1			https://www.ncbi.nlm.nih.gov/omim/?term=604530	http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1	rs3765014	0.415535	0.2993	0.2733	1	0	0	intronic	intronic	intronic	NCR1	NCR1	ENSG00000189430	Na	Na	Na	Na	Na	Na	Het;C>G	610;47|28	Hom;C>G	1443;1|49
N	N	-	19	55423488	55423488	T	C	snp	intronic	 	 	 	 	NCR1	Ncr1	ENSG00000284208	natural cytotoxicity triggering receptor 1	chr19:55417508-55427508			Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses.					http://www.genecards.org/index.php?path=/Search/keyword/NCR1			https://www.ncbi.nlm.nih.gov/omim/?term=604530	http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1	rs73619967	0.407149	0.2616	0.2707	1	0	0	intronic	intronic	intronic	NCR1	NCR1	ENSG00000189430	Na	Na	Na	Na	Na	Na	Het;T>C	257;33|13	Hom;T>C	733;0|28
N	N	-	19	55423530	55423530	C	T	snp	intronic	 	 	 	 	NCR1	Ncr1	ENSG00000284208	natural cytotoxicity triggering receptor 1	chr19:55417508-55427508			Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses.					http://www.genecards.org/index.php?path=/Search/keyword/NCR1			https://www.ncbi.nlm.nih.gov/omim/?term=604530	http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1	rs73619969	0.391773	0.2513	0.2516	1	0	0	intronic	intronic	intronic	NCR1	NCR1	ENSG00000189430	Na	Na	Na	Na	Na	Na	Het;C>T	938;62|46	Hom;C>T	1909;0|71
N	N	-	19	55434723	55434723	A	C	snp	downstream	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs624217	0.70028	0	0	1	0	0	downstream	downstream	downstream	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;A>C	109;9|4	Hom;A>C	152;0|4
N	N	-	19	55434735	55434735	A	G	snp	downstream	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs624235	0.70028	0	0	1	0	0	downstream	downstream	downstream	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;A>G	71;9|3	Hom;A>G	197;0|5
N	N	-	19	55434739	55434739	C	T	snp	downstream	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs550931	0.540735	0	0	1	0	0	downstream	downstream	downstream	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;C>T	100;9|4	Hom;C>T	197;0|5
N	N	-	19	55434818	55434818	A	G	snp	downstream	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs634742	0.699681	0	0	1	0	0	downstream	downstream	downstream	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;A>G	189;9|9	Hom;A>G	342;0|13
N	N	-	19	55438940	55438944	AAAAC	A	indel	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs104895515	0.591254	0.5454	0.5819	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;-AAAC	408;15|12	Hom;-AAAC	792;1|20
N	N	-	19	55439166	55439166	T	C	snp	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs269933	0.592652	0.5464	0.5813	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;T>C	861;22|37	Hom;T>C	1257;0|44
N	N	-	19	55439197	55439197	A	C	snp	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs269934	0.592652	0	0	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;A>C	354;13|15	Hom;A>C	676;0|24
N	N	-	19	55439838	55439838	A	G	snp	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs269939	0.592652	0	0	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;A>G	461;31|25	Hom;A>G	1106;0|43
N	N	-	19	55440357	55440357	G	A	snp	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs269940	0.592452	0	0	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;G>A	380;31|22	Hom;G>A	872;1|36
N	N	-	19	55441902	55441902	T	C	snp	synonymous SNV	A2775G	A925A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs269950	0.590056	0.5443	0.5819	1	0	0	exonic	exonic	exonic	NLRP7	NLRP7	ENSG00000167634	synonymous SNV	synonymous SNV	unknown	NLRP7:NM_206828:exon9:c.A2775G:p.A925A,NLRP7:NM_001127255:exon9:c.A2775G:p.A925A,NLRP7:NM_139176:exon9:c.A2691G:p.A897A,	NLRP7:uc002qii.4:exon9:c.A2775G:p.A925A,NLRP7:uc002qig.4:exon9:c.A2691G:p.A897A,NLRP7:uc010esk.3:exon9:c.A2775G:p.A925A,NLRP7:uc010esl.3:exon11:c.A2859G:p.A953A,NLRP7:uc002qih.4:exon9:c.A2775G:p.A925A,	UNKNOWN	Het;T>C	810;43|37	Hom;T>C	1807;0|63
N	N	-	19	55441995	55441995	A	G	snp	synonymous SNV	T2682C	Y894Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs269951	0.590455	0.5441	0.5815	1	0	0	exonic	exonic	exonic	NLRP7	NLRP7	ENSG00000167634	synonymous SNV	synonymous SNV	unknown	NLRP7:NM_206828:exon9:c.T2682C:p.Y894Y,NLRP7:NM_001127255:exon9:c.T2682C:p.Y894Y,NLRP7:NM_139176:exon9:c.T2598C:p.Y866Y,	NLRP7:uc002qii.4:exon9:c.T2682C:p.Y894Y,NLRP7:uc002qig.4:exon9:c.T2598C:p.Y866Y,NLRP7:uc010esk.3:exon9:c.T2682C:p.Y894Y,NLRP7:uc010esl.3:exon11:c.T2766C:p.Y922Y,NLRP7:uc002qih.4:exon9:c.T2682C:p.Y894Y,	UNKNOWN	Het;A>G	908;67|48	Hom;A>G	2302;0|84
N	N	-	19	55443424	55443424	A	G	snp	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs269955	0.739417	0	0	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;A>G	1144;32|53	Hom;A>G	2430;0|90
N	N	-	19	55443467	55443467	G	A	snp	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs28545394	0.360024	0	0	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;G>A	1061;37|53	Hom;G>A	2388;1|94
N	N	-	19	55445395	55445395	G	T	snp	intronic	 	 	 	 	NLRP7	Nlrp2	ENSG00000278173	NLR family pyrin domain containing 7	chr19:55434877-55477680	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	longevity; Crohn Disease|Crohn's disease	 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP7		https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609661	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7	rs2043307	0.35643	0	0	1	0	0	intronic	intronic	intronic	NLRP7	NLRP7	ENSG00000167634	Na	Na	Na	Na	Na	Na	Het;G>T	41;6|4	Hom;G>T	151;0|5
N	N	-	19	55589544	55589544	G	A	snp	intronic	 	 	 	 	EPS8L1	Eps8l1	ENSG00000131037	EPS8 like 1	chr19:55583388-55599291	This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0007266;Rho protein signal transduction;IDA|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1900029;positive regulation of ruffle assembly;IGI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0032587;ruffle membrane;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IDA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0042608;T cell receptor binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EPS8L1	https://www.uniprot.org/uniprot/Q8TE68		https://www.ncbi.nlm.nih.gov/omim/?term=614987	http://www.informatics.jax.org/searchtool/Search.do?query=EPS8L1&submit=Quick%0D%6480ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPS8L1	rs10411094	0.43131	0.4009	0.4403	1	0	0	intronic	intronic	intronic	EPS8L1	EPS8L1	ENSG00000131037	Na	Na	Na	Na	Na	Na	Het;G>A	228;8|9	Hom;G>A	528;0|19
N	N	-	19	55597369	55597369	G	C	snp	intronic	 	 	 	 	EPS8L1	Eps8l1	ENSG00000131037	EPS8 like 1	chr19:55583388-55599291	This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0007266;Rho protein signal transduction;IDA|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1900029;positive regulation of ruffle assembly;IGI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0032587;ruffle membrane;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IDA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0042608;T cell receptor binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EPS8L1	https://www.uniprot.org/uniprot/Q8TE68		https://www.ncbi.nlm.nih.gov/omim/?term=614987	http://www.informatics.jax.org/searchtool/Search.do?query=EPS8L1&submit=Quick%0D%6480ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPS8L1	rs2290476	0.440695	0.4176	0.4341	1	0	0	intronic	intronic	intronic	EPS8L1	EPS8L1	ENSG00000131037	Na	Na	Na	Na	Na	Na	Het;G>C	1276;59|62	Hom;G>C	2457;1|95
N	N	-	19	55708557	55708557	A	G	snp	synonymous SNV	T1918C	L640L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PTPRH	Ptprh	ENSG00000080031	protein tyrosine phosphatase, receptor type H	chr19:55692616-55720874	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]		Mice homozygous for a null alllele exhibit normal intestinal epithelial cell morphology and physiology.		GO:0006470;protein dephosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0042995;cell projection;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRH	https://www.uniprot.org/uniprot/Q9HD43		https://www.ncbi.nlm.nih.gov/omim/?term=602510	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRH&submit=Quick%0D%1720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRH	rs2288521	0.678914	0.7177	0.6652	1	0	0	exonic	exonic	exonic	PTPRH	PTPRH	ENSG00000080031	synonymous SNV	synonymous SNV	unknown	PTPRH:NM_002842:exon9:c.T1918C:p.L640L,PTPRH:NM_001161440:exon7:c.T1384C:p.L462L,	PTPRH:uc002qjq.3:exon9:c.T1918C:p.L640L,PTPRH:uc010esv.3:exon7:c.T1384C:p.L462L,PTPRH:uc002qjs.2:exon9:c.T1939C:p.L647L,	UNKNOWN	Het;A>G	1827;84|80	Hom;A>G	3315;2|122
N	N	-	19	55713535	55713535	G	A	snp	nonsynonymous SNV	C1042T	H348Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	PTPRH	Ptprh	ENSG00000080031	protein tyrosine phosphatase, receptor type H	chr19:55692616-55720874	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]		Mice homozygous for a null alllele exhibit normal intestinal epithelial cell morphology and physiology.		GO:0006470;protein dephosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0042995;cell projection;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRH	https://www.uniprot.org/uniprot/Q9HD43		https://www.ncbi.nlm.nih.gov/omim/?term=602510	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRH&submit=Quick%0D%1720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRH	rs2288515	0.571286	0.5468	0.4944	0.08	1	12	exonic	exonic	exonic	PTPRH	PTPRH	ENSG00000080031	nonsynonymous SNV	nonsynonymous SNV	unknown	PTPRH:NM_002842:exon6:c.C1042T:p.H348Y,PTPRH:NM_001161440:exon4:c.C508T:p.H170Y,	PTPRH:uc002qjq.3:exon6:c.C1042T:p.H348Y,PTPRH:uc010esv.3:exon4:c.C508T:p.H170Y,PTPRH:uc002qjs.2:exon6:c.C1063T:p.H355Y,	UNKNOWN	Het;G>A	3505;149|164	Hom;G>A	6739;0|250
N	N	-	19	55824586	55824586	G	A	snp	intronic	 	 	 	 	TMEM150B	Tmem150b	ENSG00000180061	transmembrane protein 150B	chr19:55824169-55845416	This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Menopause	 			GO:0005764;lysosome;IBA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM150B			https://www.ncbi.nlm.nih.gov/omim/?term=617291	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM150B&submit=Quick%0D%14428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM150B	rs4806659	0.365216	0	0	1	0	0	intronic	intronic	intronic	TMEM150B	TMEM150B	ENSG00000180061	Na	Na	Na	Na	Na	Na	Het;G>A	93;4|4	Hom;G>A	117;0|4
N	N	-	19	55993260	55993260	A	G	snp	nonsynonymous SNV	A700G	T234A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ZNF628	Zfp628	ENSG00000197483	zinc finger protein 628	chr19:55987699-55995854	Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF628			https://www.ncbi.nlm.nih.gov/omim/?term=610671	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF628&submit=Quick%0D%16640ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF628	rs34864744	0.761781	0	0.7937	0.10	1	10	exonic	exonic	exonic	ZNF628	ZNF628	ENSG00000197483	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF628:NM_033113:exon3:c.A700G:p.T234A,	ZNF628:uc002qld.3:exon3:c.A700G:p.T234A,	UNKNOWN	Het;A>G	886;54|41	Hom;A>G	1748;0|60
N	N	-	19	55993790	55993790	A	G	snp	synonymous SNV	A1230G	E410E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ZNF628	Zfp628	ENSG00000197483	zinc finger protein 628	chr19:55987699-55995854	Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF628			https://www.ncbi.nlm.nih.gov/omim/?term=610671	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF628&submit=Quick%0D%16640ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF628	rs7254184	0.601238	0	0.7324	1	0	0	exonic	exonic	exonic	ZNF628	ZNF628	ENSG00000197483	synonymous SNV	synonymous SNV	unknown	ZNF628:NM_033113:exon3:c.A1230G:p.E410E,	ZNF628:uc002qld.3:exon3:c.A1230G:p.E410E,	UNKNOWN	Het;A>G	247;22|15	Hom;A>G	548;0|21
N	N	-	19	55994240	55994240	C	T	snp	synonymous SNV	C1680T	H560H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZNF628	Zfp628	ENSG00000197483	zinc finger protein 628	chr19:55987699-55995854	Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF628			https://www.ncbi.nlm.nih.gov/omim/?term=610671	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF628&submit=Quick%0D%16640ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF628	rs12981044	0.568091	0.5945	0.5606	1	0	0	exonic	exonic	exonic	ZNF628	ZNF628	ENSG00000197483	synonymous SNV	synonymous SNV	unknown	ZNF628:NM_033113:exon3:c.C1680T:p.H560H,	ZNF628:uc002qld.3:exon3:c.C1680T:p.H560H,	UNKNOWN	Het;C>T	1486;76|69	Hom;C>T	3488;0|124
N	N	-	19	55995272	55995272	G	A	snp	synonymous SNV	G2712A	P904P	hydrophobic,neutral	hydrophobic,neutral	ZNF628	Zfp628	ENSG00000197483	zinc finger protein 628	chr19:55987699-55995854	Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF628			https://www.ncbi.nlm.nih.gov/omim/?term=610671	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF628&submit=Quick%0D%16640ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF628	rs11550705	0.235823	0.3479	0.4368	1	0	0	exonic	exonic	exonic	ZNF628	ZNF628	ENSG00000197483	synonymous SNV	synonymous SNV	unknown	ZNF628:NM_033113:exon3:c.G2712A:p.P904P,	ZNF628:uc002qld.3:exon3:c.G2712A:p.P904P,	UNKNOWN	Het;G>A	1429;66|66	Hom;G>A	2967;1|105
N	N	-	19	55996939	55996939	G	A	snp	intronic	 	 	 	 	NAT14	Nat14	ENSG00000090971	N-acetyltransferase 14 (putative)	chr19:55996371-55998935			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;NAS|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003677;DNA binding;IEA|GO:0008080;N-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NAT14	https://www.uniprot.org/uniprot/Q8WUY8			http://www.informatics.jax.org/searchtool/Search.do?query=NAT14&submit=Quick%0D%2126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAT14	rs3745450	0.548123	0	0	1	0	0	intronic	intronic	intronic	NAT14	NAT14	ENSG00000090971	Na	Na	Na	Na	Na	Na	Het;G>A	61;2|3	Hom;G>A	180;0|6
N	N	-	19	55999993	55999993	A	G	snp	intronic	 	 	 	 	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs4405662	0.680312	0.7339	0.7351	1	0	0	intronic	intronic	intronic	SSC5D	SSC5D	ENSG00000179954	Na	Na	Na	Na	Na	Na	Het;A>G	848;30|41	Hom;A>G	1642;0|63
N	N	-	19	56001802	56001802	C	CCCAAGCAA	indel	intronic	 	 	 	 	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs5828624	0.575479	0.5248	0.5179	1	0	0	intronic	intronic	intronic	SSC5D	SSC5D	ENSG00000179954	Na	Na	Na	Na	Na	Na	Het;+CCAAGCAA	79;18|4	Hom;+CCAAGCAA	707;0|17
N	N	-	19	56004901	56004901	G	A	snp	intronic	 	 	 	 	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs889090	0.749401	0	0	1	0	0	intronic	intronic	intronic	SSC5D	SSC5D	ENSG00000179954	Na	Na	Na	Na	Na	Na	Het;G>A	97;8|5	Hom;G>A	544;0|18
N	N	-	19	56009191	56009192	GT	G	indel	intronic	 	 	 	 	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs34794462	0.792532	0	0	1	0	0	intronic	intronic	intronic	SSC5D	SSC5D	ENSG00000179954	Na	Na	Na	Na	Na	Na	Het;-T	929;14|24	Hom;-T	489;0|13
N	N	-	19	56024519	56024519	T	C	snp	nonsynonymous SNV	T2927C	L976P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs671542	0.971246	0.9989	0.9919	0.08	1	12	exonic	exonic	exonic	SSC5D	SSC5D	ENSG00000179954	nonsynonymous SNV	nonsynonymous SNV	unknown	SSC5D:NM_001144950:exon13:c.T2927C:p.L976P,	SSC5D:uc002qlg.4:exon13:c.T2927C:p.L976P,	UNKNOWN	Het;T>C	1831;92|91	Hom;T>C	4040;0|146
N	N	-	19	56024563	56024563	G	C	snp	intronic	 	 	 	 	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs514574	0.970647	0.9989	0.9917	1	0	0	intronic	intronic	intronic	SSC5D	SSC5D	ENSG00000179954	Na	Na	Na	Na	Na	Na	Het;G>C	1397;66|59	Hom;G>C	3136;0|104
N	N	-	19	56024599	56024599	A	G	snp	intronic	 	 	 	 	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs671152	0.970647	0	0	1	0	0	intronic	intronic	intronic	SSC5D	SSC5D	ENSG00000179954	Na	Na	Na	Na	Na	Na	Het;A>G	984;36|43	Hom;A>G	1600;0|59
N	N	-	19	56030428	56030428	C	A	snp	UTR3	*63C>A	 	 	 	SSC5D	Ssc5d	ENSG00000179954	scavenger receptor cysteine rich family member with 5 domains	chr19:55999771-56030465			 	Scavenging by Class B Receptors	GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SSC5D				http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D	rs10217	0.493211	0	0	1	0	0	UTR3	UTR3	UTR3	SSC5D(NM_001144950:c.*63C>A)	SSC5D(uc002qlg.4:c.*63C>A)	ENSG00000179954(ENST00000389623:c.*63C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	233;14|11	Hom;C>A	620;0|22
N	N	-	19	56040126	56040126	C	T	snp	downstream	 	 	 	 	SBK2	Sbk2	ENSG00000187550	SH3 domain binding kinase family member 2	chr19:56041100-56048456			 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA	GO:0005737;cytoplasm;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBK2				http://www.informatics.jax.org/searchtool/Search.do?query=SBK2&submit=Quick%0D%15841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBK2	rs635264	0.804712	0	0	1	0	0	downstream	downstream	downstream	SBK2	SBK2	ENSG00000187550	Na	Na	Na	Na	Na	Na	Het;C>T	53;2|4	Hom;C>T	106;0|5
N	N	-	19	56041255	56041255	C	G	snp	nonsynonymous SNV	G892C	A298P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SBK2	Sbk2	ENSG00000187550	SH3 domain binding kinase family member 2	chr19:56041100-56048456			 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA	GO:0005737;cytoplasm;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBK2				http://www.informatics.jax.org/searchtool/Search.do?query=SBK2&submit=Quick%0D%15841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBK2	rs620251	0.964058	0.9894	0.9751	0.08	1	13	exonic	exonic	exonic	SBK2	SBK2	ENSG00000187550	nonsynonymous SNV	nonsynonymous SNV	unknown	SBK2:NM_001101401:exon4:c.G892C:p.A298P,	SBK2:uc010ygc.2:exon4:c.G892C:p.A298P,	UNKNOWN	Het;C>G	877;30|41	Hom;C>G	1813;0|66
N	N	-	19	56343087	56343087	T	C	snp	intronic	 	 	 	 	NLRP11	 	ENSG00000179873	NLR family pyrin domain containing 11	chr19:56296770-56348166	NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008]	Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease|Crohn's disease; Body Height; Menopause; Multiple Sclerosis; multiple sclerosis (severity)	 		GO:0055114;oxidation-reduction process;IEA		GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005524;ATP binding;IEA|GO:0016715;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP11			https://www.ncbi.nlm.nih.gov/omim/?term=609664	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP11&submit=Quick%0D%14396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP11	rs302476	0.482029	0	0	1	0	0	intronic	intronic	intronic	NLRP11	NLRP11	ENSG00000179873	Na	Na	Na	Na	Na	Na	Het;T>C	73;3|3	Hom;T>C	102;0|4
N	N	-	19	56343466	56343466	C	T	snp	intronic	 	 	 	 	NLRP11	 	ENSG00000179873	NLR family pyrin domain containing 11	chr19:56296770-56348166	NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008]	Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease|Crohn's disease; Body Height; Menopause; Multiple Sclerosis; multiple sclerosis (severity)	 		GO:0055114;oxidation-reduction process;IEA		GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005524;ATP binding;IEA|GO:0016715;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP11			https://www.ncbi.nlm.nih.gov/omim/?term=609664	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP11&submit=Quick%0D%14396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP11	rs8107603	0.197284	0	0	1	0	0	intronic	intronic	intronic	NLRP11	NLRP11	ENSG00000179873	Na	Na	Na	Na	Na	Na	Het;C>T	252;18|13	Hom;C>T	1023;0|39
N	N	-	19	56422531	56422531	C	T	snp	intronic	 	 	 	 	NLRP13		ENSG00000173572	NLR family pyrin domain containing 13	chr19:56403065-56443702	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]	Crohn Disease|Crohn's disease; Leukemia, Lymphocytic, Chronic, B-Cell; Hemoglobin A, Glycosylated					GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP13			https://www.ncbi.nlm.nih.gov/omim/?term=609660	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP13&submit=Quick%0D%13384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP13	rs1836786	0.754792	0	0	1	0	0	intronic	intronic	intronic	NLRP13	NLRP13	ENSG00000173572	Na	Na	Na	Na	Na	Na	Het;C>T	171;3|9	Hom;C>T	120;0|6
N	N	-	19	56538203	56538203	C	A	snp	intronic	 	 	 	 	NLRP5	Nlrp5	ENSG00000171487		chr19:56511092-56573179	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell	Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage.		GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP5				http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5	rs3103612	0.847843	0	0	1	0	0	intronic	intronic	intronic	NLRP5	NLRP5	ENSG00000171487	Na	Na	Na	Na	Na	Na	Het;C>A	324;4|13	Hom;C>A	375;1|14
N	N	-	19	56538976	56538976	G	C	snp	nonsynonymous SNV	G1377C	M459I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NLRP5	Nlrp5	ENSG00000171487		chr19:56511092-56573179	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell	Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage.		GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP5				http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5	rs471979	0.125	0.0935	0.1298	0.08	1	13	exonic	exonic	exonic	NLRP5	NLRP5	ENSG00000171487	nonsynonymous SNV	nonsynonymous SNV	unknown	NLRP5:NM_153447:exon7:c.G1377C:p.M459I,	NLRP5:uc002qmj.3:exon7:c.G1377C:p.M459I,NLRP5:uc002qmi.3:exon6:c.G1320C:p.M440I,	UNKNOWN	Het;G>C	3087;151|144	Hom;G>C	6729;2|241
N	N	-	19	56539240	56539240	C	T	snp	synonymous SNV	C1641T	D547D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	NLRP5	Nlrp5	ENSG00000171487		chr19:56511092-56573179	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell	Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage.		GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP5				http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5	rs397977	0.347444	0.3645	0.4353	1	0	0	exonic	exonic	exonic	NLRP5	NLRP5	ENSG00000171487	synonymous SNV	synonymous SNV	unknown	NLRP5:NM_153447:exon7:c.C1641T:p.D547D,	NLRP5:uc002qmj.3:exon7:c.C1641T:p.D547D,NLRP5:uc002qmi.3:exon6:c.C1584T:p.D528D,	UNKNOWN	Het;C>T	2045;93|98	Hom;C>T	5666;0|210
N	N	-	19	56552230	56552230	A	G	snp	intronic	 	 	 	 	NLRP5	Nlrp5	ENSG00000171487		chr19:56511092-56573179	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell	Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage.		GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP5				http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5	rs2569425	0.765375	0	0	1	0	0	intronic	intronic	intronic	NLRP5	NLRP5	ENSG00000171487	Na	Na	Na	Na	Na	Na	Het;A>G	1161;48|49	Hom;A>G	2722;0|87
N	N	-	19	56552456	56552456	G	T	snp	synonymous SNV	G2955T	L985L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NLRP5	Nlrp5	ENSG00000171487		chr19:56511092-56573179	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell	Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage.		GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP5				http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5	rs61732213	0.224641	0.1167	0.2054	1	0	0	exonic	exonic	exonic	NLRP5	NLRP5	ENSG00000171487	synonymous SNV	synonymous SNV	unknown	NLRP5:NM_153447:exon11:c.G2955T:p.L985L,	NLRP5:uc002qmj.3:exon11:c.G2955T:p.L985L,NLRP5:uc002qmi.3:exon10:c.G2898T:p.L966L,	UNKNOWN	Het;G>T	320;35|18	Hom;G>T	1960;0|69
N	N	-	19	56565164	56565164	G	A	snp	nonsynonymous SNV	G3289A	A1097T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	NLRP5	Nlrp5	ENSG00000171487		chr19:56511092-56573179	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell	Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage.		GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP5				http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5	rs3103057	0.897364	0.9548	0.9523	0.08	1	13	exonic	exonic	exonic	NLRP5	NLRP5	ENSG00000171487	nonsynonymous SNV	nonsynonymous SNV	unknown	NLRP5:NM_153447:exon13:c.G3289A:p.A1097T,	NLRP5:uc002qmj.3:exon13:c.G3289A:p.A1097T,NLRP5:uc002qmi.3:exon12:c.G3232A:p.A1078T,	UNKNOWN	Het;G>A	2238;116|112	Hom;G>A	5122;0|190
N	N	-	19	56718585	56718585	A	G	snp	unknown	 	 	 	 	ZSCAN5C		ENSG00000204532	zinc finger and SCAN domain containing 5C	chr19:56713670-56720821					GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN5C				http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN5C&submit=Quick%0D%17330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN5C	rs4801690	0.606829	0	0.5256	0.11	1	9	intergenic	intergenic	exonic	ZSCAN5B(dist=14164),ZSCAN5A(dist=14094)	ZSCAN5B(dist=14164),ZSCAN5A(dist=14094)	ENSG00000204532	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	362;25|19	Hom;A>G	973;0|36
N	N	-	19	56739747	56739747	C	G	snp	upstream	 	 	 	 	ZSCAN5A	Zscan5b	ENSG00000131848	zinc finger and SCAN domain containing 5A	chr19:56732681-56879752			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IBA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN5A	https://www.uniprot.org/uniprot/Q9BUG6			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN5A&submit=Quick%0D%6596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN5A	rs28369316	0.741214	0	0	1	0	0	upstream	intronic	intronic	ZSCAN5A	ZSCAN5A	ENSG00000131848	Na	Na	Na	Na	Na	Na	Het;C>G	342;42|21	Hom;C>G	1327;2|51
N	N	-	19	56831508	56831508	G	A	snp	ncRNA_exonic	 	 	 	 	AC006116.1																		rs7245993	0.720847	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	ZSCAN5A(dist=91849),ZNF542P(dist=47960)	ZSCAN5A	ENSG00000266907	Na	Na	Na	Na	Na	Na	Het;G>A	316;9|14	Hom;G>A	1089;0|40
N	N	-	19	57324186	57324186	T	TA	indel	ncRNA_exonic	 	 	 	 	PEG3-AS1																		rs11392622	0.638978	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	PEG3-AS1	PEG3-AS1	ENSG00000198300(ENST00000423103:c.*857A>TA,ENST00000326441:c.*857A>TA)	Na	Na	Na	Na	Na	Na	Het;+A	1910;34|108	Hom;+A	1374;9|70
N	N	-	19	57649962	57649962	C	T	snp	nonsynonymous SNV	G20A	R7K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZIM3		ENSG00000141946	zinc finger imprinted 3	chr19:57645464-57656570				Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZIM3	https://www.uniprot.org/uniprot/Q96PE6			http://www.informatics.jax.org/searchtool/Search.do?query=ZIM3&submit=Quick%0D%8233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZIM3	rs10407445	0.142173	0.1282	0.1011	0.08	1	12	exonic	exonic	exonic	ZIM3	ZIM3	ENSG00000141946	nonsynonymous SNV	nonsynonymous SNV	unknown	ZIM3:NM_052882:exon3:c.G20A:p.R7K,	ZIM3:uc002qnz.1:exon3:c.G20A:p.R7K,	UNKNOWN	Het;C>T	371;19|18	Hom;C>T	664;0|27
N	N	-	19	57672303	57672303	G	A	snp	intronic	 	 	 	 	DUXA		ENSG00000258873	double homeobox A	chr19:57665389-57678811	Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]	Dupuytren Contracture			GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DUXA			https://www.ncbi.nlm.nih.gov/omim/?term=611168	http://www.informatics.jax.org/searchtool/Search.do?query=DUXA&submit=Quick%0D%20306ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUXA	Na	0	0	0	1	0	0	intronic	intronic	intronic	DUXA	DUXA	ENSG00000258873	Na	Na	Na	Na	Na	Na	Het;G>A	185;9|7	Hom;G>A	363;0|11
N	N	-	19	57678738	57678738	A	G	snp	intronic	 	 	 	 	DUXA		ENSG00000258873	double homeobox A	chr19:57665389-57678811	Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]	Dupuytren Contracture			GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DUXA			https://www.ncbi.nlm.nih.gov/omim/?term=611168	http://www.informatics.jax.org/searchtool/Search.do?query=DUXA&submit=Quick%0D%20306ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUXA	rs17273610	0.124601	0.1093	0.1150	1	0	0	intronic	intronic	intronic	DUXA	DUXA	ENSG00000258873	Na	Na	Na	Na	Na	Na	Het;A>G	973;64|46	Hom;A>G	1929;4|74
N	N	-	19	57686731	57686731	A	G	snp	ncRNA_exonic	 	 	 	 	AC025588.1																		rs77213760	0.108826	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	DUXA(dist=7875),ZNF264(dist=16137)	DUXA(dist=7875),ZNF264(dist=16137)	ENSG00000268379	Na	Na	Na	Na	Na	Na	Het;A>G	240;6|10	Hom;A>G	860;0|31
N	N	-	19	57828735	57828735	G	T	snp	ncRNA_exonic	 	 	 	 	AC005261.5																		rs1559	0.244808	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ZNF460(dist=23299),ZNF543(dist=3130)	ZNF460(dist=23299),ZNF543(dist=3130)	ENSG00000268723	Na	Na	Na	Na	Na	Na	Het;G>T	1366;80|69	Hom;G>T	4128;0|155
N	N	-	19	57832257	57832257	T	C	snp	intronic	 	 	 	 	ZNF543	 	ENSG00000178229	zinc finger protein 543	chr19:57831877-57842144			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF543			https://www.ncbi.nlm.nih.gov/omim/?term=616847	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF543&submit=Quick%0D%14157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF543	rs4801462	0.326677	0.3205	0.3673	1	0	0	intronic	intronic	intronic	ZNF543	ZNF543	ENSG00000178229	Na	Na	Na	Na	Na	Na	Het;T>C	921;46|44	Hom;T>C	2697;0|107
N	N	-	19	57865082	57865082	T	C	snp	intronic	 	 	 	 	ZNF304	 	ENSG00000131845	zinc finger protein 304	chr19:57862675-57871266	This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein functions as a transcriptional repressor that recruits a corepressor complex to stimulate promoter hypermethylation and transcriptional silencing of target genes. Expression of this gene is upregulated in colorectal, ovarian and breast cancer, and this gene may promote cancer cell survival, growth and invasion. [provided by RefSeq, Jul 2016]		 	Generic Transcription Pathway	GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007265;Ras protein signal transduction;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0035562;negative regulation of chromatin binding;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IMP|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP|GO:1900114;positive regulation of histone H3-K9 trimethylation;IMP|GO:1902466;positive regulation of histone H3-K27 trimethylation;IMP|GO:2000811;negative regulation of anoikis;IMP	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF304	https://www.uniprot.org/uniprot/Q9HCX3		https://www.ncbi.nlm.nih.gov/omim/?term=613840	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF304&submit=Quick%0D%6595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF304	rs862703	0.755791	0.6733	0.7573	1	0	0	intronic	intronic	intronic	ZNF304	ZNF304	ENSG00000131845	Na	Na	Na	Na	Na	Na	Het;T>C	586;37|31	Hom;T>C	1126;0|40
N	N	-	19	57874954	57874954	C	G	snp	ncRNA_exonic	 	 	 	 	TRAPPC2B																		rs2285604	0.532748	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR5	TRAPPC2B	TRAPPC2P1	ENSG00000152433(ENST00000595335:c.-4970C>G,ENST00000282282:c.-4970C>G),ENSG00000256060(ENST00000543226:c.-1248C>G,ENST00000596755:c.-1248C>G),ENSG00000268133(ENST00000597658:c.-4970C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1206;103|67	Hom;C>G	4008;4|152
N	N	-	19	57878194	57878194	G	T	snp	intronic	 	 	 	 	ZNF547	 	ENSG00000152433	zinc finger protein 547	chr19:57874845-57890933			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF547	https://www.uniprot.org/uniprot/Q8IVP9			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF547&submit=Quick%0D%9546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF547	rs1989455	0.526757	0	0	1	0	0	intronic	intronic	intronic	ZNF547	ZNF547	ENSG00000152433,ENSG00000268133	Na	Na	Na	Na	Na	Na	Het;G>T	44;5|4	Hom;G>T	90;0|4
N	N	-	19	57967049	57967049	G	T	snp	nonsynonymous SNV	C806A	A269D	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	VN1R1		ENSG00000178201	vomeronasal 1 receptor 1	chr19:57966542-57967854	Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder			GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007606;sensory perception of chemical stimulus;IBA|GO:0008150;biological_process;ND|GO:0019236;response to pheromone;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0016503;pheromone receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VN1R1			https://www.ncbi.nlm.nih.gov/omim/?term=605234	http://www.informatics.jax.org/searchtool/Search.do?query=VN1R1&submit=Quick%0D%14151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VN1R1	rs61744949	0.413339	0.2919	0.3567	0.17	2	12	exonic	exonic	exonic	VN1R1	VN1R1	ENSG00000178201,ENSG00000268163	nonsynonymous SNV	nonsynonymous SNV	unknown	VN1R1:NM_020633:exon1:c.C806A:p.A269D,	VN1R1:uc002qos.2:exon1:c.C806A:p.A269D,	UNKNOWN	Het;G>T	1945;115|95	Hom;G>T	4437;1|169
N	N	-	19	57967133	57967133	G	A	snp	nonsynonymous SNV	C722T	S241F	polar,hydrophilic,neutral	aromatic,hydrophobic,neutral	VN1R1		ENSG00000178201	vomeronasal 1 receptor 1	chr19:57966542-57967854	Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder			GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007606;sensory perception of chemical stimulus;IBA|GO:0008150;biological_process;ND|GO:0019236;response to pheromone;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0016503;pheromone receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VN1R1			https://www.ncbi.nlm.nih.gov/omim/?term=605234	http://www.informatics.jax.org/searchtool/Search.do?query=VN1R1&submit=Quick%0D%14151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VN1R1	rs28649880	0.413938	0.2919	0.3569	0.33	4	12	exonic	exonic	exonic	VN1R1	VN1R1	ENSG00000178201	nonsynonymous SNV	nonsynonymous SNV	unknown	VN1R1:NM_020633:exon1:c.C722T:p.S241F,	VN1R1:uc002qos.2:exon1:c.C722T:p.S241F,	UNKNOWN	Het;G>A	1874;137|96	Hom;G>A	5944;2|224
N	N	-	19	57984918	57984918	A	G	snp	synonymous SNV	T858C	S286S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF772	 	ENSG00000197128	zinc finger protein 772	chr19:57978031-57988938			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF772				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772	rs2074058	0.413938	0.2929	0.3563	1	0	0	exonic	exonic	exonic	ZNF772	ZNF772	ENSG00000197128	synonymous SNV	synonymous SNV	unknown	ZNF772:NM_001024596:exon5:c.T1194C:p.S398S,ZNF772:NM_001144068:exon4:c.T1071C:p.S357S,	ZNF772:uc010ygz.2:exon3:c.T858C:p.S286S,ZNF772:uc002qou.3:exon2:c.T858C:p.S286S,ZNF772:uc010ygy.2:exon4:c.T1071C:p.S357S,ZNF772:uc002qot.3:exon5:c.T1194C:p.S398S,ZNF772:uc010yha.2:exon3:c.T1032C:p.S344S,	UNKNOWN	Het;A>G	824;30|38	Hom;A>G	2155;0|79
N	N	-	19	57985460	57985460	T	A	snp	nonsynonymous SNV	A652T	M218L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF772	 	ENSG00000197128	zinc finger protein 772	chr19:57978031-57988938			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF772				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772	rs2074059	0.676518	0.6284	0.6597	0.08	1	12	exonic	exonic	exonic	ZNF772	ZNF772	ENSG00000197128	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF772:NM_001024596:exon5:c.A652T:p.M218L,ZNF772:NM_001144068:exon4:c.A529T:p.M177L,	ZNF772:uc010ygz.2:exon3:c.A316T:p.M106L,ZNF772:uc002qou.3:exon2:c.A316T:p.M106L,ZNF772:uc010ygy.2:exon4:c.A529T:p.M177L,ZNF772:uc002qot.3:exon5:c.A652T:p.M218L,ZNF772:uc010yha.2:exon3:c.A490T:p.M164L,	UNKNOWN	Het;T>A	1634;113|88	Hom;T>A	6031;0|229
N	N	-	19	57985566	57985566	G	C	snp	nonsynonymous SNV	C546G	C182W	polar,hydrophobic,neutral	aromatic,hydrophobic,neutral	ZNF772	 	ENSG00000197128	zinc finger protein 772	chr19:57978031-57988938			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF772				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772	rs2074060	0.676917	0.6269	0.6601	0.08	1	12	exonic	exonic	exonic	ZNF772	ZNF772	ENSG00000197128	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF772:NM_001024596:exon5:c.C546G:p.C182W,ZNF772:NM_001144068:exon4:c.C423G:p.C141W,	ZNF772:uc010ygz.2:exon3:c.C210G:p.C70W,ZNF772:uc002qou.3:exon2:c.C210G:p.C70W,ZNF772:uc010ygy.2:exon4:c.C423G:p.C141W,ZNF772:uc002qot.3:exon5:c.C546G:p.C182W,ZNF772:uc010yha.2:exon3:c.C384G:p.C128W,	UNKNOWN	Het;G>C	1797;79|79	Hom;G>C	4877;0|168
N	N	-	19	57987905	57987905	G	A	snp	unknown	 	 	 	 	ZNF772	 	ENSG00000197128	zinc finger protein 772	chr19:57978031-57988938			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF772				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772	rs2067055	0.41274	0	0.3828	1	0	0	intronic	intronic	exonic	ZNF772	ZNF772	ENSG00000197128	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	113;10|6	Hom;G>A	277;0|10
N	N	-	19	57988666	57988666	A	AGCC	indel	nonframeshift substitution	12_12delinsGGCT	 	 	 	ZNF772	 	ENSG00000197128	zinc finger protein 772	chr19:57978031-57988938			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF772				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772	rs34678661	0.406749	0.2856	0.3527	1	0	0	exonic	exonic	exonic	ZNF772	ZNF772	ENSG00000197128,ENSG00000268163	nonframeshift substitution	nonframeshift substitution	unknown	ZNF772:NM_001024596:exon1:c.12_12delinsGGCT,ZNF772:NM_001144068:exon1:c.12_12delinsGGCT,	ZNF772:uc010ygy.2:exon1:c.12_12delinsGGCT,ZNF772:uc002qot.3:exon1:c.12_12delinsGGCT,ZNF772:uc010yha.2:exon1:c.12_12delinsGGCT,	UNKNOWN	Het;+GCC	433;34|24	Hom;+GCC	2836;1|65
N	N	-	19	57999182	57999182	A	G	snp	UTR5	-137A>G	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs8113039	0.415735	0	0	1	0	0	UTR5	UTR5	UTR5	ZNF419(NM_024691:c.-137A>G,NM_001291745:c.-137A>G,NM_001098494:c.-137A>G,NM_001098496:c.-137A>G,NM_001291744:c.-3750A>G,NM_001291743:c.-137A>G,NM_001098493:c.-137A>G,NM_001098491:c.-137A>G,NM_001098492:c.-137A>G,NM_001098495:c.-137A>G)	ZNF419(uc010ety.1:c.-137A>G,uc002qov.2:c.-137A>G,uc010etz.1:c.-137A>G,uc002qow.2:c.-137A>G,uc010eua.1:c.-137A>G,uc010eub.1:c.-137A>G,uc010euc.1:c.-137A>G)	ENSG00000105136(ENST00000354197:c.-137A>G,ENST00000426954:c.-137A>G,ENST00000442920:c.-137A>G,ENST00000519310:c.-3750A>G,ENST00000520540:c.-137A>G,ENST00000523882:c.-137A>G,ENST00000523312:c.-137A>G,ENST00000424930:c.-137A>G,ENST00000347466:c.-137A>G,ENST00000415379:c.-137A>G,ENST00000523138:c.-137A>G,ENST00000521754:c.-137A>G,ENST00000221735:c.-137A>G,ENST00000518999:c.-137A>G,ENST00000521137:c.-137A>G),ENSG00000268107(ENST00000601674:c.-137A>G,ENST00000599674:c.-137A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	419;29|19	Hom;A>G	854;0|27
N	N	-	19	58001512	58001512	T	A	snp	UTR5	-1420T>A	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs11672136	0.437101	0.3280	0.4092	1	0	0	UTR5	intronic	UTR5	ZNF419(NM_001291744:c.-1420T>A)	ZNF419	ENSG00000105136(ENST00000519310:c.-1420T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	1638;61|79	Hom;T>A	2967;2|115
N	N	-	19	58002819	58002819	T	A	snp	intronic	 	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs6510085	0.694888	0.6608	0.7113	1	0	0	intronic	intronic	intronic	ZNF419	ZNF419	ENSG00000105136,ENSG00000268107	Na	Na	Na	Na	Na	Na	Het;T>A	1245;44|59	Hom;T>A	2477;0|94
N	N	-	19	58003141	58003141	A	G	snp	unknown	 	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs2074067	0.69389	0	0.6582	1	0	0	intronic	intronic	exonic	ZNF419	ZNF419	ENSG00000105136	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	154;1|5	Hom;A>G	114;0|4
N	N	-	19	58003488	58003488	A	G	snp	synonymous SNV	A171G	A57A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs2074070	0.430711	0	0.4035	1	0	0	exonic	exonic	exonic	ZNF419	ZNF419	ENSG00000105136	synonymous SNV	synonymous SNV	unknown	ZNF419:NM_024691:exon4:c.A207G:p.A69A,ZNF419:NM_001098491:exon4:c.A210G:p.A70A,ZNF419:NM_001291745:exon3:c.A171G:p.A57A,ZNF419:NM_001098493:exon3:c.A168G:p.A56A,ZNF419:NM_001098492:exon3:c.A171G:p.A57A,	ZNF419:uc010etz.1:exon3:c.A171G:p.A57A,ZNF419:uc002qov.2:exon4:c.A207G:p.A69A,ZNF419:uc010eua.1:exon3:c.A168G:p.A56A,ZNF419:uc010ety.1:exon4:c.A210G:p.A70A,	UNKNOWN	Het;A>G	630;49|34	Hom;A>G	1550;0|57
N	N	-	19	58003580	58003580	A	G	snp	splicing	298+1A>G	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs2074071	0.695487	0.6608	0.7113	1	0	0	splicing	splicing	exonic;splicing	ZNF419(NM_024691:exon4:c.298+1A>G,NM_001291745:exon3:c.262+1A>G,NM_001098493:exon3:c.259+1A>G,NM_001098491:exon4:c.301+1A>G,NM_001098492:exon3:c.262+1A>G)	ZNF419(uc010ety.1:exon4:c.301+1A>G,uc002qov.2:exon4:c.298+1A>G,uc010etz.1:exon3:c.262+1A>G,uc010eua.1:exon3:c.259+1A>G)	ENSG00000105136;ENSG00000105136(ENST00000354197:exon3:c.262+1A>G,ENST00000426954:exon3:c.262+1A>G,ENST00000442920:exon3:c.259+1A>G,ENST00000424930:exon4:c.301+1A>G,ENST00000221735:exon4:c.298+1A>G)	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	742;73|40	Hom;A>G	2531;0|94
N	N	-	19	58003613	58003613	C	T	snp	UTR3	*2C>T	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs2074072	0.695487	0.6607	0.7112	1	0	0	intronic	intronic	UTR3	ZNF419	ZNF419	ENSG00000105136(ENST00000520540:c.*2C>T,ENST00000518999:c.*2C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	603;42|30	Hom;C>T	1574;0|58
N	N	-	19	58003728	58003728	G	A	snp	UTR3	*117G>A	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs2074073	0.695487	0.6636	0.7126	1	0	0	intronic	intronic	UTR3	ZNF419	ZNF419	ENSG00000105136(ENST00000518999:c.*117G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	100;1|4	Hom;G>A	148;0|5
N	N	-	19	58004158	58004158	C	T	snp	intronic	 	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs2074075	0.695487	0.6641	0.7124	1	0	0	intronic	intronic	intronic	ZNF419	ZNF419	ENSG00000105136,ENSG00000268107	Na	Na	Na	Na	Na	Na	Het;C>T	156;8|7	Hom;C>T	195;0|7
N	N	-	19	58004346	58004346	G	C	snp	nonsynonymous SNV	G421C	E141Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs2074076	0.695687	0.6601	0.7111	0.25	3	12	exonic	exonic	exonic	ZNF419	ZNF419	ENSG00000105136	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF419:NM_024691:exon5:c.G421C:p.E141Q,ZNF419:NM_001098491:exon5:c.G424C:p.E142Q,ZNF419:NM_001098494:exon4:c.G325C:p.E109Q,ZNF419:NM_001098496:exon3:c.G283C:p.E95Q,ZNF419:NM_001098495:exon3:c.G286C:p.E96Q,ZNF419:NM_001098493:exon4:c.G382C:p.E128Q,ZNF419:NM_001098492:exon4:c.G385C:p.E129Q,ZNF419:NM_001291744:exon4:c.G157C:p.E53Q,ZNF419:NM_001291743:exon4:c.G322C:p.E108Q,	ZNF419:uc010etz.1:exon4:c.G385C:p.E129Q,ZNF419:uc010euc.1:exon3:c.G283C:p.E95Q,ZNF419:uc010eub.1:exon3:c.G286C:p.E96Q,ZNF419:uc002qov.2:exon5:c.G421C:p.E141Q,ZNF419:uc002qow.2:exon4:c.G325C:p.E109Q,ZNF419:uc010eua.1:exon4:c.G382C:p.E128Q,ZNF419:uc010ety.1:exon5:c.G424C:p.E142Q,	UNKNOWN	Het;G>C	1932;97|88	Hom;G>C	3717;0|133
N	N	-	19	58005666	58005666	C	G	snp	UTR3	*208C>G	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs7248266	0.708067	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF419(NM_024691:c.*208C>G,NM_001098494:c.*208C>G,NM_001098496:c.*208C>G,NM_001291744:c.*208C>G,NM_001291743:c.*208C>G,NM_001098493:c.*208C>G,NM_001098491:c.*208C>G,NM_001098492:c.*208C>G,NM_001098495:c.*208C>G)	ZNF419(uc010ety.1:c.*208C>G,uc002qov.2:c.*208C>G,uc010etz.1:c.*208C>G,uc002qow.2:c.*208C>G,uc010eua.1:c.*208C>G,uc010eub.1:c.*208C>G,uc010euc.1:c.*208C>G)	ENSG00000105136(ENST00000426954:c.*208C>G,ENST00000424930:c.*208C>G,ENST00000347466:c.*208C>G,ENST00000415379:c.*208C>G,ENST00000221735:c.*208C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	221;14|7	Hom;C>G	782;0|18
N	N	-	19	58005668	58005668	C	A	snp	UTR3	*210C>A	 	 	 	ZNF419	 	ENSG00000105136	zinc finger protein 419	chr19:57999079-58006048		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF419	https://www.uniprot.org/uniprot/Q96HQ0		https://www.ncbi.nlm.nih.gov/omim/?term=617410	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419	rs7248267	0.695687	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF419(NM_024691:c.*210C>A,NM_001098494:c.*210C>A,NM_001098496:c.*210C>A,NM_001291744:c.*210C>A,NM_001291743:c.*210C>A,NM_001098493:c.*210C>A,NM_001098491:c.*210C>A,NM_001098492:c.*210C>A,NM_001098495:c.*210C>A)	ZNF419(uc010ety.1:c.*210C>A,uc002qov.2:c.*210C>A,uc010etz.1:c.*210C>A,uc002qow.2:c.*210C>A,uc010eua.1:c.*210C>A,uc010eub.1:c.*210C>A,uc010euc.1:c.*210C>A)	ENSG00000105136(ENST00000426954:c.*210C>A,ENST00000424930:c.*210C>A,ENST00000347466:c.*210C>A,ENST00000415379:c.*210C>A,ENST00000221735:c.*210C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	221;15|7	Hom;C>A	782;0|18
N	N	-	19	58011421	58011421	G	T	snp	UTR5	-28G>T	 	 	 	ZNF773	Zfp772	ENSG00000152439	zinc finger protein 773	chr19:58011283-58029772			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF773	https://www.uniprot.org/uniprot/Q6PK81			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF773&submit=Quick%0D%9547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF773	rs12463137	0.260982	0.2042	0.4023	1	0	0	UTR5	UTR5	UTR5	ZNF773(NM_001304336:c.-28G>T,NM_198542:c.-28G>T,NM_001304335:c.-28G>T,NM_001304337:c.-28G>T,NM_001304334:c.-28G>T)	ZNF773(uc002qox.3:c.-28G>T,uc002qoy.3:c.-28G>T,uc021vcl.1:c.-28G>T)	ENSG00000152439(ENST00000593916:c.-28G>T,ENST00000598770:c.-28G>T,ENST00000599847:c.-28G>T,ENST00000282292:c.-28G>T,ENST00000597061:c.-28G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	857;41|44	Hom;G>T	2901;0|109
N	N	-	19	58214147	58214147	T	C	snp	nonsynonymous SNV	A170G	H57R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZNF154	 	ENSG00000179909	zinc finger protein 154	chr19:58208735-58220579	This gene encodes a protein that belongs to the zinc finger Kruppel family of transcriptional regulators, whose members are thought to function in normal and abnormal cell growth and differentiation. Hypermethylation of this gene is associated with the recurrence of non muscle invasive bladder cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]		 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IBA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF154			https://www.ncbi.nlm.nih.gov/omim/?term=604085	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF154&submit=Quick%0D%14400ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF154	rs34282745	0.00838658	0.0298	0.0228	0.17	2	12	exonic	exonic	exonic	ZNF154	ZNF154	ENSG00000179909	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF154:NM_001085384:exon3:c.A170G:p.H57R,	ZNF154:uc010euf.3:exon3:c.A170G:p.H57R,	UNKNOWN	Het;T>C	1147;36|56	Hom;T>C	2504;0|88
N	N	-	19	58420152	58420152	C	A	snp	synonymous SNV	G1494T	G498G	aliphatic,neutral	aliphatic,neutral	ZNF417	 	ENSG00000173480	zinc finger protein 417	chr19:58411664-58427978			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF417				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417	rs17845779	0.279353	0	0.2694	1	0	0	exonic	exonic	exonic	ZNF417	ZNF417	ENSG00000173480	synonymous SNV	synonymous SNV	unknown	ZNF417:NM_001297734:exon3:c.G1491T:p.G497G,ZNF417:NM_152475:exon3:c.G1494T:p.G498G,	ZNF417:uc002qqq.3:exon3:c.G1494T:p.G498G,ZNF417:uc002qqr.3:exon3:c.G1491T:p.G497G,ZNF417:uc010yhm.2:exon4:c.G1365T:p.G455G,	UNKNOWN	Het;C>A	710;6|18	Hom;C>A	872;0|19
N	N	-	19	58420162	58420162	T	C	snp	nonsynonymous SNV	A1481G	N494S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF417	 	ENSG00000173480	zinc finger protein 417	chr19:58411664-58427978			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF417				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417	rs10416584	0.314696	0.2653	0.3255	0.08	1	12	exonic	exonic	exonic	ZNF417	ZNF417	ENSG00000173480	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF417:NM_001297734:exon3:c.A1481G:p.N494S,ZNF417:NM_152475:exon3:c.A1484G:p.N495S,	ZNF417:uc002qqq.3:exon3:c.A1484G:p.N495S,ZNF417:uc002qqr.3:exon3:c.A1481G:p.N494S,ZNF417:uc010yhm.2:exon4:c.A1355G:p.N452S,	UNKNOWN	Het;T>C	815;13|21	Hom;T>C	917;0|21
N	N	-	19	58420167	58420167	T	C	snp	synonymous SNV	A1479G	E493E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ZNF417	 	ENSG00000173480	zinc finger protein 417	chr19:58411664-58427978			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF417				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417	rs17852300	0.246206	0.1957	0.2584	1	0	0	exonic	exonic	exonic	ZNF417	ZNF417	ENSG00000173480	synonymous SNV	synonymous SNV	unknown	ZNF417:NM_001297734:exon3:c.A1476G:p.E492E,ZNF417:NM_152475:exon3:c.A1479G:p.E493E,	ZNF417:uc002qqq.3:exon3:c.A1479G:p.E493E,ZNF417:uc002qqr.3:exon3:c.A1476G:p.E492E,ZNF417:uc010yhm.2:exon4:c.A1350G:p.E450E,	UNKNOWN	Het;T>C	815;13|21	Hom;T>C	1036;0|25
N	N	-	19	58420699	58420699	C	A	snp	nonsynonymous SNV	G944T	R315L	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	ZNF417	 	ENSG00000173480	zinc finger protein 417	chr19:58411664-58427978			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF417				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417	rs3745133	0.33746	0	0.3259	0.33	4	12	exonic	exonic	exonic	ZNF417	ZNF417	ENSG00000173480	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF417:NM_001297734:exon3:c.G944T:p.R315L,ZNF417:NM_152475:exon3:c.G947T:p.R316L,	ZNF417:uc002qqq.3:exon3:c.G947T:p.R316L,ZNF417:uc002qqr.3:exon3:c.G944T:p.R315L,ZNF417:uc010yhm.2:exon4:c.G818T:p.R273L,	UNKNOWN	Het;C>A	2031;87|91	Hom;C>A	3697;0|125
N	N	-	19	58421128	58421128	C	T	snp	nonsynonymous SNV	G515A	R172H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZNF417	 	ENSG00000173480	zinc finger protein 417	chr19:58411664-58427978			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF417				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417	rs3826671	0.328674	0.3366	0.4026	0.08	1	12	exonic	exonic	exonic	ZNF417	ZNF417	ENSG00000173480	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF417:NM_001297734:exon3:c.G515A:p.R172H,ZNF417:NM_152475:exon3:c.G518A:p.R173H,	ZNF417:uc002qqq.3:exon3:c.G518A:p.R173H,ZNF417:uc002qqr.3:exon3:c.G515A:p.R172H,ZNF417:uc010yhm.2:exon4:c.G389A:p.R130H,	UNKNOWN	Het;C>T	1388;73|67	Hom;C>T	3410;0|131
N	N	-	19	58453342	58453342	T	C	snp	synonymous SNV	A834G	Q278Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF256	 	ENSG00000152454	zinc finger protein 256	chr19:58452201-58459043			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF256	https://www.uniprot.org/uniprot/Q9Y2P7		https://www.ncbi.nlm.nih.gov/omim/?term=606956	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF256&submit=Quick%0D%9549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF256	rs959231	0.266773	0.2550	0.2808	1	0	0	exonic	exonic	exonic	ZNF256	ZNF256	ENSG00000152454	synonymous SNV	synonymous SNV	unknown	ZNF256:NM_005773:exon3:c.A834G:p.Q278Q,	ZNF256:uc002qqu.3:exon3:c.A834G:p.Q278Q,ZNF256:uc010euj.3:exon2:c.A375G:p.Q125Q,	UNKNOWN	Het;T>C	474;26|23	Hom;T>C	1523;0|55
N	N	-	19	58461989	58461989	A	C	snp	intergenic	 	 	 	 	ZNF256	 	ENSG00000152454	zinc finger protein 256	chr19:58452201-58459043			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF256	https://www.uniprot.org/uniprot/Q9Y2P7		https://www.ncbi.nlm.nih.gov/omim/?term=606956	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF256&submit=Quick%0D%9549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF256	rs257658	0.565096	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF256(dist=2912),C19orf18(dist=7816)	ZNF256(dist=2912),C19orf18(dist=7816)	ENSG00000152454(dist=2946),ENSG00000243234(dist=2537)	Na	Na	Na	Na	Na	Na	Het;A>C	35;4|2	Hom;A>C	256;0|9
N	N	-	19	58485439	58485439	C	T	snp	intronic	 	 	 	 	C19orf18	2900092C05Rik	ENSG00000177025	chromosome 19 open reading frame 18	chr19:58469805-58485902			Male mice homozygous for a mutation are viable and show normal fertility.		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C19orf18				http://www.informatics.jax.org/searchtool/Search.do?query=C19orf18&submit=Quick%0D%13954ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf18	rs257676	0.722843	0.7325	0.6532	1	0	0	intronic	intronic	intronic	C19orf18	C19orf18	ENSG00000177025	Na	Na	Na	Na	Na	Na	Het;C>T	924;54|46	Hom;C>T	2551;0|94
N	N	-	19	58549322	58549322	C	T	snp	nonsynonymous SNV	C118T	R40C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	ZSCAN1	 	ENSG00000152467	zinc finger and SCAN domain containing 1	chr19:58545400-58565999			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN1	https://www.uniprot.org/uniprot/Q8NBB4			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN1&submit=Quick%0D%9555ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN1	rs148768169	0.00379393	0.0077	0.0062	0.17	2	12	exonic	exonic	exonic	ZSCAN1	ZSCAN1	ENSG00000152467	nonsynonymous SNV	nonsynonymous SNV	unknown	ZSCAN1:NM_182572:exon3:c.C118T:p.R40C,	ZSCAN1:uc002qrb.1:exon3:c.C118T:p.R40C,ZSCAN1:uc002qra.1:exon4:c.C118T:p.R40C,ZSCAN1:uc002qrc.1:exon3:c.C118T:p.R40C,	UNKNOWN	Het;C>T	775;32|36	Hom;C>T	2118;3|84
N	N	-	19	58549354	58549354	C	T	snp	synonymous SNV	C150T	S50S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZSCAN1	 	ENSG00000152467	zinc finger and SCAN domain containing 1	chr19:58545400-58565999			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN1	https://www.uniprot.org/uniprot/Q8NBB4			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN1&submit=Quick%0D%9555ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN1	rs113374422	0.0165735	0.0273	0.0278	1	0	0	exonic	exonic	exonic	ZSCAN1	ZSCAN1	ENSG00000152467	synonymous SNV	synonymous SNV	unknown	ZSCAN1:NM_182572:exon3:c.C150T:p.S50S,	ZSCAN1:uc002qrb.1:exon3:c.C150T:p.S50S,ZSCAN1:uc002qra.1:exon4:c.C150T:p.S50S,ZSCAN1:uc002qrc.1:exon3:c.C150T:p.S50S,	UNKNOWN	Het;C>T	947;34|42	Hom;C>T	2301;4|96
N	N	-	19	58565431	58565431	C	T	snp	UTR3	*12C>T	 	 	 	ZSCAN1	 	ENSG00000152467	zinc finger and SCAN domain containing 1	chr19:58545400-58565999			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN1	https://www.uniprot.org/uniprot/Q8NBB4			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN1&submit=Quick%0D%9555ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN1	rs8104122	0.264976	0.2584	0.3278	1	0	0	UTR3	UTR3	UTR3	ZSCAN1(NM_182572:c.*12C>T)	ZSCAN1(uc002qrc.1:c.*12C>T)	ENSG00000152467(ENST00000282326:c.*12C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	571;52|27	Hom;C>T	1901;2|70
N	N	-	19	58572959	58572959	G	A	snp	synonymous SNV	G45A	T15T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF135	Zfp184	ENSG00000176293	zinc finger protein 135	chr19:58570607-58597677		Creatinine; Body Weight	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0022604;regulation of cell morphogenesis;IMP	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF135			https://www.ncbi.nlm.nih.gov/omim/?term=604077	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF135&submit=Quick%0D%13837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF135	rs2288274	0.269768	0.2794	0.2686	1	0	0	exonic	exonic	exonic	ZNF135	ZNF135	ENSG00000176293	synonymous SNV	synonymous SNV	unknown	ZNF135:NM_001164527:exon2:c.G81A:p.T27T,ZNF135:NM_001164529:exon2:c.G81A:p.T27T,ZNF135:NM_007134:exon2:c.G81A:p.T27T,ZNF135:NM_001164530:exon2:c.G81A:p.T27T,ZNF135:NM_001289401:exon3:c.G45A:p.T15T,ZNF135:NM_003436:exon3:c.G45A:p.T15T,	ZNF135:uc010yhq.2:exon3:c.G45A:p.T15T,ZNF135:uc002qrd.2:exon2:c.G81A:p.T27T,ZNF135:uc021vct.1:exon2:c.G81A:p.T27T,ZNF135:uc002qrg.3:exon2:c.G81A:p.T27T,ZNF135:uc021vcu.1:exon2:c.G81A:p.T27T,ZNF135:uc002qre.3:exon3:c.G45A:p.T15T,	UNKNOWN	Het;G>A	1040;65|54	Hom;G>A	2574;1|100
N	N	-	19	58579927	58579927	A	C	snp	UTR3	*98A>C	 	 	 	ZNF135	Zfp184	ENSG00000176293	zinc finger protein 135	chr19:58570607-58597677		Creatinine; Body Weight	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0022604;regulation of cell morphogenesis;IMP	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF135			https://www.ncbi.nlm.nih.gov/omim/?term=604077	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF135&submit=Quick%0D%13837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF135	rs12461217	0.256589	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF135(NM_001164529:c.*1404A>C,NM_001164530:c.*98A>C,NM_001289402:c.*98A>C,NM_003436:c.*98A>C,NM_007134:c.*98A>C,NM_001289401:c.*98A>C)	ZNF135(uc002qre.3:c.*98A>C,uc002qrf.3:c.*98A>C,uc010yhq.2:c.*98A>C,uc010yhr.2:c.*98A>C,uc002qrd.2:c.*98A>C,uc021vcu.1:c.*1404A>C,uc002qrg.3:c.*98A>C)	ENSG00000176293(ENST00000401053:c.*98A>C,ENST00000359978:c.*98A>C,ENST00000313434:c.*98A>C,ENST00000511556:c.*98A>C,ENST00000506786:c.*98A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	175;14|9	Hom;A>C	438;0|18
N	N	-	19	58618974	58618974	G	A	snp	intronic	 	 	 	 	ZSCAN18	Zscan18	ENSG00000121413	zinc finger and SCAN domain containing 18	chr19:58595205-58629794			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN18	https://www.uniprot.org/uniprot/Q8TBC5			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN18&submit=Quick%0D%5316ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN18	rs12973189	0.349042	0	0	1	0	0	intronic	intronic	intronic	ZSCAN18	ZSCAN18	ENSG00000121413	Na	Na	Na	Na	Na	Na	Het;G>A	228;17|11	Hom;G>A	965;0|32
N	N	-	19	5867748	5867748	G	T	snp	unknown	 	 	 	 	AC024592.3																		rs778971	0.638778	0.5347	0.6098	1	0	0	UTR5	UTR5	exonic	FUT5(NM_002034:c.-12C>A)	FUT5(uc002mdo.4:c.-12C>A,uc010duo.3:c.-12C>A)	ENSG00000267740	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>T	1906;92|90	Hom;G>T	4588;0|171
N	N	-	19	58718269	58718269	G	A	snp	nonsynonymous SNV	G124A	V42I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF274	Zfp369	ENSG00000171606	zinc finger protein 274	chr19:58694396-58724928	This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]		Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally.	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:1900112;regulation of histone H3-K9 trimethylation;IMP|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;TAS|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF274			https://www.ncbi.nlm.nih.gov/omim/?term=605467	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF274&submit=Quick%0D%12973ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF274	rs7256349	0.122404	0.2064	0.2251	0.08	1	13	exonic	exonic	exonic	ZNF274	ZNF274	ENSG00000171606	unknown	nonsynonymous SNV	unknown	UNKNOWN	ZNF274:uc002qrs.1:exon2:c.G124A:p.V42I,ZNF274:uc002qrq.1:exon5:c.G439A:p.V147I,ZNF274:uc002qrr.1:exon4:c.G343A:p.V115I,	UNKNOWN	Het;G>A	1153;69|57	Hom;G>A	3876;2|140
N	N	-	19	58718698	58718698	A	G	snp	intronic	 	 	 	 	ZNF274	Zfp369	ENSG00000171606	zinc finger protein 274	chr19:58694396-58724928	This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]		Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally.	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:1900112;regulation of histone H3-K9 trimethylation;IMP|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;TAS|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF274			https://www.ncbi.nlm.nih.gov/omim/?term=605467	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF274&submit=Quick%0D%12973ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF274	rs11672645	0.122404	0	0	1	0	0	intronic	intronic	intronic	ZNF274	ZNF274	ENSG00000171606	Na	Na	Na	Na	Na	Na	Het;A>G	82;2|3	Hom;A>G	229;0|7
N	N	-	19	58826534	58826534	A	G	snp	ncRNA_exonic	 	 	 	 	AC020915.1		ENSG00000142396		chr19:58822283-58822368								http://www.genecards.org/index.php?path=/Search/keyword/AC020915.1	https://www.uniprot.org/uniprot/A0A0U1RQV1			http://www.informatics.jax.org/searchtool/Search.do?query=AC020915.1&submit=Quick%0D%8278ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AC020915.1	rs3206946	0.346046	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	ZNF8(dist=19280),ZSCAN22(dist=11851)	LOC113386	ENSG00000142396	Na	Na	Na	Na	Na	Na	Het;A>G	1874;59|50	Hom;A>G	4178;0|94
N	N	-	19	58826535	58826535	T	A	snp	ncRNA_exonic	 	 	 	 	AC020915.1		ENSG00000142396		chr19:58822283-58822368								http://www.genecards.org/index.php?path=/Search/keyword/AC020915.1	https://www.uniprot.org/uniprot/A0A0U1RQV1			http://www.informatics.jax.org/searchtool/Search.do?query=AC020915.1&submit=Quick%0D%8278ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AC020915.1	rs3206947	0.346046	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	ZNF8(dist=19281),ZSCAN22(dist=11850)	LOC113386	ENSG00000142396	Na	Na	Na	Na	Na	Na	Het;T>A	1874;62|50	Hom;T>A	4178;0|94
N	N	-	19	58836745	58836745	T	A	snp	intergenic	 	 	 	 	AC010642.1																		rs3745142	0.162141	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF8(dist=29491),ZSCAN22(dist=1640)	LOC113386(dist=9732),ZSCAN22(dist=1640)	ENSG00000269794(dist=4890),ENSG00000182318(dist=1640)	Na	Na	Na	Na	Na	Na	Het;T>A	804;30|38	Hom;T>A	2082;0|70
N	N	-	19	58850341	58850341	G	C	snp	synonymous SNV	G1125C	T375T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZSCAN22	Zscan22	ENSG00000182318	zinc finger and SCAN domain containing 22	chr19:58838385-58853698			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN22			https://www.ncbi.nlm.nih.gov/omim/?term=165260	http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN22&submit=Quick%0D%14768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN22	rs59054150	0.133986	0.0929	0.0883	1	0	0	exonic	exonic	exonic	ZSCAN22	ZSCAN22	ENSG00000182318	synonymous SNV	synonymous SNV	unknown	ZSCAN22:NM_181846:exon3:c.G1125C:p.T375T,	ZSCAN22:uc002qsc.2:exon3:c.G1125C:p.T375T,	UNKNOWN	Het;G>C	244;6|10	Hom;G>C	664;0|23
N	N	-	19	58850756	58850756	G	C	snp	UTR3	*64G>C	 	 	 	ZSCAN22	Zscan22	ENSG00000182318	zinc finger and SCAN domain containing 22	chr19:58838385-58853698			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN22			https://www.ncbi.nlm.nih.gov/omim/?term=165260	http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN22&submit=Quick%0D%14768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN22	rs16988668	0.161741	0	0	1	0	0	UTR3	UTR3	UTR3	ZSCAN22(NM_181846:c.*64G>C)	ZSCAN22(uc002qsc.2:c.*64G>C,uc010yhz.1:c.*522G>C)	ENSG00000182318(ENST00000329665:c.*64G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	786;34|38	Hom;G>C	1906;0|67
N	N	-	19	58865164	58865164	C	T	snp	ncRNA_exonic	 	 	 	 	A1BG-AS1																		rs80109863	0.00559105	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	A1BG-AS1	A1BG-AS1	ENSG00000268895	Na	Na	Na	Na	Na	Na	Het;C>T	1405;57|67	Hom;C>T	3545;4|135
N	N	-	19	58899534	58899534	G	A	snp	synonymous SNV	G30A	A10A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RPS5	Rps5	ENSG00000083845	ribosomal protein S5	chr19:58897767-58906173	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006450;regulation of translational fidelity;IGI|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS	GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0003735;structural constituent of ribosome;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RPS5	https://www.uniprot.org/uniprot/P46782		https://www.ncbi.nlm.nih.gov/omim/?term=603630	http://www.informatics.jax.org/searchtool/Search.do?query=RPS5&submit=Quick%0D%1845ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS5	rs142305058	0.00139776	0.0003	0.0018	1	0	0	exonic	exonic	exonic	RPS5	RPS5	ENSG00000083845	synonymous SNV	synonymous SNV	unknown	RPS5:NM_001009:exon2:c.G30A:p.A10A,	RPS5:uc002qsn.3:exon2:c.G30A:p.A10A,	UNKNOWN	Het;G>A	307;20|16	Hom;G>A	1186;0|46
N	N	-	19	58907700	58907700	G	A	snp	nonsynonymous SNV	G244A	D82N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	RNF225	Rnf225																	rs112710702	0.0221645	0	0.0467	0.75	3	4	exonic	exonic	exonic	RNF225	LOC646862	ENSG00000269855	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF225:NM_001195135:exon1:c.G244A:p.D82N,	LOC646862:uc021vcz.1:exon1:c.G244A:p.D82N,	UNKNOWN	Het;G>A	1443;54|71	Hom;G>A	2691;4|104
N	N	-	19	59010102	59010102	G	A	snp	intronic	 	 	 	 	SLC27A5	Slc27a5	ENSG00000083807	solute carrier family 27 member 5	chr19:58990879-59023780	The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]	Fatty Liver|Insulin Resistance|Metabolic Syndrome X; diabetes, type 2	Mice homozygous for a null allele exhibit altered lipid homeostasis.	Synthesis of bile acids and bile salts via 24-hydroxycholesterol	GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006642;triglyceride mobilization;IEA|GO:0006699;bile acid biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0008206;bile acid metabolic process;IEA|GO:0015721;bile acid and bile salt transport;TAS|GO:0015908;fatty acid transport;IEA|GO:0015911;plasma membrane long-chain fatty acid transport;IEA|GO:0046951;ketone body biosynthetic process;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IEA|GO:0005524;ATP binding;IEA|GO:0015245;fatty acid transporter activity;IEA|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0047747;cholate-CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC27A5	https://www.uniprot.org/uniprot/Q9Y2P5		https://www.ncbi.nlm.nih.gov/omim/?term=603314	http://www.informatics.jax.org/searchtool/Search.do?query=SLC27A5&submit=Quick%0D%1838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC27A5	rs778379930	0	0	0.0003	1	0	0	intronic	intronic	intronic	SLC27A5	SLC27A5	ENSG00000083807	Na	Na	Na	Na	Na	Na	Het;G>A	1970;80|91	Hom;G>A	4214;6|165
N	N	-	19	6004105	6004105	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100128568																		rs530942	0.830871	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100128568	LOC100128568	ENSG00000266983	Na	Na	Na	Na	Na	Na	Het;G>A	204;8|8	Hom;G>A	186;0|6
N	N	-	19	613898	613898	T	C	snp	synonymous SNV	T1872C	A624A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HCN2	Hcn2	ENSG00000099822	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	chr19:589893-617159	Hyperpolarization-activated cation channels of the HCN gene family, such as HCN2, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM, Jul 2010]	Seizures, Febrile; Type 2 Diabetes| edema | rosiglitazone; Epilepsy, Generalized; seizures, febrile	Mice homozygous for mutant alleles exhibit decreased body weight, behavioral/neurological abnormalities, and tremors or absence seizures.	HCN channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007267;cell-cell signaling;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0071320;cellular response to cAMP;IDA|GO:0071321;cellular response to cGMP;IDA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IC|GO:0098719;sodium ion import across plasma membrane;IDA|GO:1990573;potassium ion import across plasma membrane;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0098855;HCN channel complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005222;intracellular cAMP activated cation channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IMP|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005267;potassium channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0030552;cAMP binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HCN2	https://www.uniprot.org/uniprot/Q9UL51		https://www.ncbi.nlm.nih.gov/omim/?term=602781	http://www.informatics.jax.org/searchtool/Search.do?query=HCN2&submit=Quick%0D%2339ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HCN2	rs1054786	0.821685	0.6908	0.6699	1	0	0	exonic	exonic	exonic	HCN2	HCN2	ENSG00000099822	synonymous SNV	synonymous SNV	unknown	HCN2:NM_001194:exon7:c.T1872C:p.A624A,	HCN2:uc002lpe.3:exon7:c.T1872C:p.A624A,	UNKNOWN	Het;T>C	873;65|48	Hom;T>C	2337;0|86
N	N	-	19	6141471	6141471	C	A	snp	intronic	 	 	 	 	ACSBG2	Acsbg2	ENSG00000130377	acyl-CoA synthetase bubblegum family member 2	chr19:6135258-6193112	The BGR gene expands the bubblegum ACS family with a testes-specific, developmentally regulated member that may play a role in spermatogenesis. The BGR-like gene may play an important role in spermatogenesis/testicular development and may be correlated with male infertility.	Echocardiography	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0047617;acyl-CoA hydrolase activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSBG2	https://www.uniprot.org/uniprot/Q5FVE4		https://www.ncbi.nlm.nih.gov/omim/?term=614363	http://www.informatics.jax.org/searchtool/Search.do?query=ACSBG2&submit=Quick%0D%140ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSBG2	rs10853992	0.607228	0	0	1	0	0	intronic	intronic	intronic	ACSBG2	ACSBG2	ENSG00000087903,ENSG00000130377	Na	Na	Na	Na	Na	Na	Het;C>A	479;17|22	Hom;C>A	988;0|36
N	N	-	19	6147743	6147743	G	C	snp	intronic	 	 	 	 	ACSBG2	Acsbg2	ENSG00000130377	acyl-CoA synthetase bubblegum family member 2	chr19:6135258-6193112	The BGR gene expands the bubblegum ACS family with a testes-specific, developmentally regulated member that may play a role in spermatogenesis. The BGR-like gene may play an important role in spermatogenesis/testicular development and may be correlated with male infertility.	Echocardiography	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0047617;acyl-CoA hydrolase activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSBG2	https://www.uniprot.org/uniprot/Q5FVE4		https://www.ncbi.nlm.nih.gov/omim/?term=614363	http://www.informatics.jax.org/searchtool/Search.do?query=ACSBG2&submit=Quick%0D%140ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSBG2	rs9304929	0.732228	0	0	1	0	0	intronic	intronic	intronic	ACSBG2	ACSBG2	ENSG00000087903,ENSG00000130377	Na	Na	Na	Na	Na	Na	Het;G>C	219;8|7	Hom;G>C	629;0|20
N	N	-	19	6151703	6151703	C	T	snp	intronic	 	 	 	 	ACSBG2	Acsbg2	ENSG00000130377	acyl-CoA synthetase bubblegum family member 2	chr19:6135258-6193112	The BGR gene expands the bubblegum ACS family with a testes-specific, developmentally regulated member that may play a role in spermatogenesis. The BGR-like gene may play an important role in spermatogenesis/testicular development and may be correlated with male infertility.	Echocardiography	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0047617;acyl-CoA hydrolase activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSBG2	https://www.uniprot.org/uniprot/Q5FVE4		https://www.ncbi.nlm.nih.gov/omim/?term=614363	http://www.informatics.jax.org/searchtool/Search.do?query=ACSBG2&submit=Quick%0D%140ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSBG2	rs7252466	0.600639	0.5951	0.6986	1	0	0	intronic	intronic	intronic	ACSBG2	ACSBG2	ENSG00000087903,ENSG00000130377	Na	Na	Na	Na	Na	Na	Het;C>T	950;44|47	Hom;C>T	1702;0|65
N	N	-	19	6156483	6156483	T	C	snp	nonsynonymous SNV	T428C	V143A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ACSBG2	Acsbg2	ENSG00000130377	acyl-CoA synthetase bubblegum family member 2	chr19:6135258-6193112	The BGR gene expands the bubblegum ACS family with a testes-specific, developmentally regulated member that may play a role in spermatogenesis. The BGR-like gene may play an important role in spermatogenesis/testicular development and may be correlated with male infertility.	Echocardiography	Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0047617;acyl-CoA hydrolase activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSBG2	https://www.uniprot.org/uniprot/Q5FVE4		https://www.ncbi.nlm.nih.gov/omim/?term=614363	http://www.informatics.jax.org/searchtool/Search.do?query=ACSBG2&submit=Quick%0D%140ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSBG2	rs4807840	0.712061	0.7001	0.7088	0.27	3	11	exonic	exonic	exonic	ACSBG2	ACSBG2	ENSG00000130377	nonsynonymous SNV	nonsynonymous SNV	unknown	ACSBG2:NM_001289178:exon5:c.T428C:p.V143A,ACSBG2:NM_030924:exon5:c.T428C:p.V143A,ACSBG2:NM_001289179:exon5:c.T428C:p.V143A,ACSBG2:NM_001289177:exon5:c.T428C:p.V143A,	ACSBG2:uc002meh.1:exon5:c.T428C:p.V143A,ACSBG2:uc002mei.1:exon5:c.T278C:p.V93A,ACSBG2:uc010xiz.1:exon5:c.T428C:p.V143A,ACSBG2:uc002meg.1:exon5:c.T428C:p.V143A,ACSBG2:uc002mef.1:exon5:c.T428C:p.V143A,	UNKNOWN	Het;T>C	500;32|27	Hom;T>C	1846;0|66
N	N	-	19	617205	617205	T	C	snp	upstream;downstream	 	 	 	 	ENSG00000266939																		rs2072122	0.653355	0.5832	0	1	0	0	downstream	downstream	upstream;downstream	HCN2,POLRMT	HCN2,POLRMT	ENSG00000266939;ENSG00000099821,ENSG00000099822	Na	Na	Na	Na	Na	Na	Het;T>C	173;12|7	Hom;T>C	530;0|17
N	N	-	19	621020	621020	T	C	snp	intronic	 	 	 	 	POLRMT	Polrmt	ENSG00000099821	RNA polymerase mitochondrial	chr19:617223-633597	This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer	Mice homozygous for a null mutation die before organogenesis.	Transcriptional activation of mitochondrial biogenesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA	GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLRMT	https://www.uniprot.org/uniprot/O00411		https://www.ncbi.nlm.nih.gov/omim/?term=601778	http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT	rs111437074	0.682308	0.6129	0.2200	1	0	0	intronic	intronic	intronic	POLRMT	POLRMT	ENSG00000099821	Na	Na	Na	Na	Na	Na	Het;T>C	152;8|8	Hom;T>C	142;0|4
N	N	-	19	625198	625198	A	G	snp	synonymous SNV	T879C	T293T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	POLRMT	Polrmt	ENSG00000099821	RNA polymerase mitochondrial	chr19:617223-633597	This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer	Mice homozygous for a null mutation die before organogenesis.	Transcriptional activation of mitochondrial biogenesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA	GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLRMT	https://www.uniprot.org/uniprot/O00411		https://www.ncbi.nlm.nih.gov/omim/?term=601778	http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT	rs1056766	0	0.6022	0.5476	1	0	0	exonic	exonic	exonic	POLRMT	POLRMT	ENSG00000099821	synonymous SNV	synonymous SNV	unknown	POLRMT:NM_005035:exon4:c.T879C:p.T293T,	POLRMT:uc002lpf.1:exon4:c.T879C:p.T293T,	UNKNOWN	Het;A>G	420;32|24	Hom;A>G	1120;0|43
N	N	-	19	6333476	6333476	G	A	snp	synonymous SNV	C87T	Y29Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	ACER1	Acer1	ENSG00000167769	alkaline ceramidase 1	chr19:6306153-6333640	Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]		Mice homozygous for a null allele show increased ceramide levels, hair shaft abnormalities, cyclic alopecia, epidermal hyperplasia, sebaceous gland and infundibulum expansion, increased epidermal water loss, and hypermetabolism along with decreased body weight and adipose tissue depots during aging.	Sphingolipid de novo biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006672;ceramide metabolic process;IEA|GO:0008544;epidermis development;IEP|GO:0010446;response to alkaline pH;IDA|GO:0019216;regulation of lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030154;cell differentiation;IMP|GO:0030216;keratinocyte differentiation;IEP|GO:0046512;sphingosine biosynthetic process;IDA|GO:0046514;ceramide catabolic process;IEA|GO:0071277;cellular response to calcium ion;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0017040;ceramidase activity;TAS|GO:0071633;dihydroceramidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ACER1			https://www.ncbi.nlm.nih.gov/omim/?term=613491	http://www.informatics.jax.org/searchtool/Search.do?query=ACER1&submit=Quick%0D%12109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACER1	rs16993553	0.0900559	0.0697	0.1689	1	0	0	exonic	exonic	exonic	ACER1	ACER1	ENSG00000167769	synonymous SNV	synonymous SNV	unknown	ACER1:NM_133492:exon1:c.C87T:p.Y29Y,	ACER1:uc002mel.2:exon1:c.C87T:p.Y29Y,	UNKNOWN	Het;G>A	228;12|11	Hom;G>A	522;0|21
N	N	-	19	6466482	6466482	A	G	snp	synonymous SNV	A162G	P54P	hydrophobic,neutral	hydrophobic,neutral	CRB3		ENSG00000130545	crumbs 3, cell polarity complex component	chr19:6463788-6467232	This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesis and ciliogenesis or the formation of tight junctions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]		Mice homozygous for a knock-out allele exhibit neonatal lethality likely due to respiratory distress, abnormal pulmonary alveolus morphology, kidney cysts and abnormal small intestinal morphology.	Tight junction interactions	GO:0070830;bicellular tight junction assembly;TAS|GO:0072659;protein localization to plasma membrane;IDA	GO:0005886;plasma membrane;TAS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IDA|GO:0043234;protein complex;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IPI|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRB3	https://www.uniprot.org/uniprot/Q9BUF7		https://www.ncbi.nlm.nih.gov/omim/?term=609737	http://www.informatics.jax.org/searchtool/Search.do?query=CRB3&submit=Quick%0D%6390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRB3	rs348362	0.423323	0.5583	0.4545	1	0	0	exonic	exonic	exonic	CRB3	CRB3	ENSG00000130545	synonymous SNV	synonymous SNV	unknown	CRB3:NM_174881:exon4:c.A162G:p.P54P,CRB3:NM_139161:exon4:c.A162G:p.P54P,	CRB3:uc002mey.3:exon4:c.A162G:p.P54P,CRB3:uc002mfa.3:exon4:c.A162G:p.P54P,CRB3:uc002mez.3:exon4:c.A162G:p.P54P,	UNKNOWN	Het;A>G	650;49|31	Hom;A>G	1374;0|50
N	N	-	19	6494502	6494502	T	C	snp	ncRNA_exonic	 	 	 	 	AC010503.1																		rs1053377	0.401558	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	TUBB4A(NM_001289129:c.*673A>G,NM_001289130:c.*673A>G,NM_001289127:c.*673A>G,NM_001289123:c.*673A>G,NM_006087:c.*673A>G,NM_001289131:c.*673A>G)	TUBB4A(uc002mfg.1:c.*673A>G)	ENSG00000268191,ENSG00000268203	Na	Na	Na	Na	Na	Na	Het;T>C	396;27|19	Hom;T>C	1269;0|43
N	N	-	19	6665020	6665020	T	C	snp	nonsynonymous SNV	A640G	K214E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	TNFSF14	Tnfsf14	ENSG00000125735	TNF superfamily member 14	chr19:6663148-6670599	The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Narcolepsy; benzene haematotoxicity; Multiple Sclerosis; null; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Hyperparathyroidism, Secondary; Dementia, Vascular|Inflammation|Stroke; Multiple Myeloma	Targeted disruption of this gene leads to selective impairment of CD8+ T cell function. Mice homozygous for a knock-out allele exhibit defects in CD8+ T cell-mediated allogenic responses. Mice homozygous for a different knock-out allele show increased resistance to experimentally-induced hepatitis.	TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway	GO:0006915;apoptotic process;TAS|GO:0006955;immune response;IEA|GO:0007165;signal transduction;NAS|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0010820;positive regulation of T cell chemotaxis;IEA|GO:0031295;T cell costimulation;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042098;T cell proliferation;NAS|GO:0042110;T cell activation;NAS|GO:0043029;T cell homeostasis;NAS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:1901741;positive regulation of myoblast fusion;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TNFSF14	https://www.uniprot.org/uniprot/O43557		https://www.ncbi.nlm.nih.gov/omim/?term=604520	http://www.informatics.jax.org/searchtool/Search.do?query=TNFSF14&submit=Quick%0D%5822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFSF14	rs344560	0.959665	0.9582	0.9484	0.18	2	11	exonic	exonic	exonic	TNFSF14	TNFSF14	ENSG00000125735	nonsynonymous SNV	nonsynonymous SNV	unknown	TNFSF14:NM_003807:exon5:c.A640G:p.K214E,TNFSF14:NM_172014:exon5:c.A532G:p.K178E,	TNFSF14:uc002mfk.2:exon5:c.A640G:p.K214E,TNFSF14:uc002mfj.2:exon5:c.A532G:p.K178E,	UNKNOWN	Het;T>C	1121;56|49	Hom;T>C	2511;0|92
N	N	-	19	6679563	6679563	T	C	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs2277983	0.529752	0.5125	0	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;T>C	243;3|10	Hom;T>C	542;1|20
N	N	-	19	6693571	6693571	C	T	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs11085194	0.390575	0	0	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;C>T	121;10|7	Hom;C>T	789;2|31
N	N	-	19	6696342	6696342	A	G	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs2287848	0.780152	0.6976	0.6925	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;A>G	163;6|7	Hom;A>G	414;0|15
N	N	-	19	6696557	6696557	C	G	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs2287846	0.756789	0.6736	0.6742	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;C>G	486;19|22	Hom;C>G	1242;1|51
N	N	-	19	6696597	6696597	G	A	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs2287845	0.732428	0.6473	0.6666	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;G>A	623;28|32	Hom;G>A	1636;1|65
N	N	-	19	6696691	6696691	G	T	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs2355315	0.732428	0.6473	0.6665	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;G>T	853;25|24	Hom;G>T	1340;1|33
N	N	-	19	6696699	6696699	G	A	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs2253756	0.732428	0.6473	0.6666	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;G>A	859;22|22	Hom;G>A	1315;0|31
N	N	-	19	6697829	6697829	G	T	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs366510	0.732029	0.6469	0.6665	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;G>T	558;12|24	Hom;G>T	320;0|13
N	N	-	19	6702157	6702157	C	G	snp	synonymous SNV	G2421C	V807V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs428453	0.732428	0.6470	0.6664	1	0	0	exonic	exonic	exonic	C3	C3	ENSG00000125730	synonymous SNV	synonymous SNV	unknown	C3:NM_000064:exon19:c.G2421C:p.V807V,	C3:uc002mfm.3:exon19:c.G2421C:p.V807V,	UNKNOWN	Het;C>G	472;39|24	Hom;C>G	907;0|33
N	N	-	19	6702246	6702246	T	C	snp	intronic	 	 	 	 	C3	C3	ENSG00000125730	complement C3	chr19:6677715-6730573	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]	cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie	Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.	Regulation of Complement cascade	GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C3	https://www.uniprot.org/uniprot/P01024	https://hpo.jax.org/app/browse/search?q=C3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120700	http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3	rs432823	0.732628	0.6470	0.6671	1	0	0	intronic	intronic	intronic	C3	C3	ENSG00000125730	Na	Na	Na	Na	Na	Na	Het;T>C	406;22|19	Hom;T>C	677;0|25
N	N	-	19	6732615	6732615	T	C	snp	intronic	 	 	 	 	GPR108	Gpr108	ENSG00000125734	G protein-coupled receptor 108	chr19:6729925-6737614		Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a null allele exhibit increased LPS-induced mortality.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GPR108	https://www.uniprot.org/uniprot/Q9NPR9			http://www.informatics.jax.org/searchtool/Search.do?query=GPR108&submit=Quick%0D%5821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR108	rs2047139	0.483826	0.4422	0	1	0	0	intronic	intronic	intronic	GPR108	GPR108	ENSG00000125734	Na	Na	Na	Na	Na	Na	Het;T>C	146;7|8	Hom;T>C	371;0|16
N	N	-	19	6732760	6732760	A	G	snp	intronic	 	 	 	 	GPR108	Gpr108	ENSG00000125734	G protein-coupled receptor 108	chr19:6729925-6737614		Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a null allele exhibit increased LPS-induced mortality.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GPR108	https://www.uniprot.org/uniprot/Q9NPR9			http://www.informatics.jax.org/searchtool/Search.do?query=GPR108&submit=Quick%0D%5821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR108	rs1690635	0.908946	0	0	1	0	0	intronic	intronic	intronic	GPR108	GPR108	ENSG00000125734	Na	Na	Na	Na	Na	Na	Het;A>G	36;3|2	Hom;A>G	141;0|4
N	N	-	19	6732982	6732982	G	A	snp	intronic	 	 	 	 	GPR108	Gpr108	ENSG00000125734	G protein-coupled receptor 108	chr19:6729925-6737614		Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a null allele exhibit increased LPS-induced mortality.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GPR108	https://www.uniprot.org/uniprot/Q9NPR9			http://www.informatics.jax.org/searchtool/Search.do?query=GPR108&submit=Quick%0D%5821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR108	rs2012357	0.504193	0.4185	0.5505	1	0	0	intronic	intronic	intronic	GPR108	GPR108	ENSG00000125734	Na	Na	Na	Na	Na	Na	Het;G>A	483;41|27	Hom;G>A	1720;0|65
N	N	-	19	6742864	6742864	G	A	snp	intronic	 	 	 	 	TRIP10	Trip10	ENSG00000125733	thyroid hormone receptor interactor 10	chr19:6737936-6751537			Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking.	Clathrin-mediated endocytosis	GO:0006897;endocytosis;IEA|GO:0007154;cell communication;NAS|GO:0007165;signal transduction;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0061024;membrane organization;TAS	GO:0001891;phagocytic cup;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TRIP10	https://www.uniprot.org/uniprot/Q15642		https://www.ncbi.nlm.nih.gov/omim/?term=604504	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP10&submit=Quick%0D%5820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP10	rs339408	0.695088	0	0	1	0	0	intronic	intronic	intronic	TRIP10	TRIP10	ENSG00000125733	Na	Na	Na	Na	Na	Na	Het;G>A	106;2|4	Hom;G>A	223;0|8
N	N	-	19	6828040	6828040	G	C	snp	intronic	 	 	 	 	VAV1	Vav1	ENSG00000141968	vav guanine nucleotide exchange factor 1	chr19:6772725-6857377	This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]	Body Height; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutants exhibit defective T cell maturation, interleukin-2 production, and cell cycle progression. Immunoglobulin class switching is also impaired and attributed to defective T cell help.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006909;phagocytosis;IEA|GO:0006955;immune response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0030168;platelet activation;TAS|GO:0030217;T cell differentiation;IEA|GO:0030593;neutrophil chemotaxis;IEA|GO:0031295;T cell costimulation;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042110;T cell activation;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0072593;reactive oxygen species metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA	GO:0001784;phosphotyrosine binding;IPI|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/VAV1	https://www.uniprot.org/uniprot/P15498		https://www.ncbi.nlm.nih.gov/omim/?term=164875	http://www.informatics.jax.org/searchtool/Search.do?query=VAV1&submit=Quick%0D%8237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV1	rs164022	0.327276	0.3337	0.4117	1	0	0	intronic	intronic	intronic	VAV1	VAV1	ENSG00000141968	Na	Na	Na	Na	Na	Na	Het;G>C	473;19|22	Hom;G>C	569;0|20
N	N	-	19	6832060	6832060	T	A	snp	intronic	 	 	 	 	VAV1	Vav1	ENSG00000141968	vav guanine nucleotide exchange factor 1	chr19:6772725-6857377	This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]	Body Height; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutants exhibit defective T cell maturation, interleukin-2 production, and cell cycle progression. Immunoglobulin class switching is also impaired and attributed to defective T cell help.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006909;phagocytosis;IEA|GO:0006955;immune response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0030168;platelet activation;TAS|GO:0030217;T cell differentiation;IEA|GO:0030593;neutrophil chemotaxis;IEA|GO:0031295;T cell costimulation;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042110;T cell activation;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0072593;reactive oxygen species metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA	GO:0001784;phosphotyrosine binding;IPI|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/VAV1	https://www.uniprot.org/uniprot/P15498		https://www.ncbi.nlm.nih.gov/omim/?term=164875	http://www.informatics.jax.org/searchtool/Search.do?query=VAV1&submit=Quick%0D%8237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV1	rs625828	0.306909	0.3221	0.3980	1	0	0	intronic	intronic	intronic	VAV1	VAV1	ENSG00000141968	Na	Na	Na	Na	Na	Na	Het;T>A	490;12|21	Hom;T>A	1187;0|42
N	N	-	19	7114288	7114288	C	T	snp	UTR3	*2779G>A	 	 	 	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs3745551	0.717652	0	0	1	0	0	UTR3	UTR3	UTR3	INSR(NM_000208:c.*2779G>A,NM_001079817:c.*2779G>A)	INSR(uc002mgd.1:c.*2779G>A,uc002mge.1:c.*2779G>A)	ENSG00000171105(ENST00000341500:c.*2779G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	188;3|9	Hom;C>T	217;0|8
N	N	-	19	7125297	7125297	G	A	snp	synonymous SNV	C3255T	H1085H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs1799817	0.292532	0.1908	0.2273	1	0	0	exonic	exonic	exonic	INSR	INSR	ENSG00000171105	synonymous SNV	synonymous SNV	unknown	INSR:NM_001079817:exon16:c.C3219T:p.H1073H,INSR:NM_000208:exon17:c.C3255T:p.H1085H,	INSR:uc002mgd.1:exon17:c.C3255T:p.H1085H,INSR:uc002mge.1:exon16:c.C3219T:p.H1073H,	UNKNOWN	Het;G>A	670;25|29	Hom;G>A	1616;2|58
N	N	-	19	7166138	7166138	G	A	snp	intronic	 	 	 	 	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs3815902	0.204273	0.2021	0.2392	1	0	0	intronic	intronic	intronic	INSR	INSR	ENSG00000171105	Na	Na	Na	Na	Na	Na	Het;G>A	116;11|6	Hom;G>A	460;0|17
N	N	-	19	7166376	7166376	C	T	snp	synonymous SNV	G1650A	A550A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs2059806	0.244808	0.2255	0.2549	1	0	0	exonic	exonic	exonic	INSR	INSR	ENSG00000171105	synonymous SNV	synonymous SNV	unknown	INSR:NM_001079817:exon8:c.G1650A:p.A550A,INSR:NM_000208:exon8:c.G1650A:p.A550A,	INSR:uc002mgd.1:exon8:c.G1650A:p.A550A,INSR:uc002mge.1:exon8:c.G1650A:p.A550A,INSR:uc002mgf.3:exon8:c.G1650A:p.A550A,	UNKNOWN	Het;C>T	773;30|37	Hom;C>T	1440;2|53
N	N	-	19	7167951	7167951	T	G	snp	intronic	 	 	 	 	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs2860177	0.247804	0.2314	0.2570	1	0	0	intronic	intronic	intronic	INSR	INSR	ENSG00000171105	Na	Na	Na	Na	Na	Na	Het;T>G	244;2|11	Hom;T>G	594;0|23
N	N	-	19	7168213	7168213	C	G	snp	intronic	 	 	 	 	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs2245143	0.247604	0	0	1	0	0	intronic	intronic	intronic	INSR	INSR	ENSG00000171105	Na	Na	Na	Na	Na	Na	Het;C>G	67;4|3	Hom;C>G	357;0|12
N	N	-	19	7170517	7170517	A	G	snp	intronic	 	 	 	 	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs2860178	0.54972	0.5418	0.4722	1	0	0	intronic	intronic	intronic	INSR	INSR	ENSG00000171105	Na	Na	Na	Na	Na	Na	Het;A>G	324;9|13	Hom;A>G	634;0|21
N	N	-	19	7184651	7184651	G	GGAGA	indel	intronic	 	 	 	 	INSR	Insr	ENSG00000171105	insulin receptor	chr19:7112266-7294045	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies.	Insulin receptor recycling	GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/INSR		https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147670	http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR	rs3835070	0	0	0.0272	1	0	0	intronic	intronic	intronic	INSR	INSR	ENSG00000171105	Na	Na	Na	Na	Na	Na	Het;+GAGA	349;39|16	Hom;+GAGA	1971;3|52
N	N	-	19	7509436	7509436	G	A	snp	intronic	 	 	 	 	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs12983399	0.182508	0	0	1	0	0	intronic	intronic	intronic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	Na	Na	Na	Na	Na	Na	Het;G>A	133;10|6	Hom;G>A	394;0|14
N	N	-	19	7512065	7512065	T	A	snp	intronic	 	 	 	 	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs59050162	0.170128	0.1607	0.3030	1	0	0	intronic	intronic	intronic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	Na	Na	Na	Na	Na	Na	Het;T>A	594;44|37	Hom;T>A	1036;6|51
N	N	-	19	7516243	7516243	A	G	snp	intronic	 	 	 	 	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs12610760	0.250799	0	0	1	0	0	intronic	intronic	intronic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	Na	Na	Na	Na	Na	Na	Het;A>G	466;27|20	Hom;A>G	1537;0|50
N	N	-	19	7524727	7524727	G	A	snp	intronic	 	 	 	 	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs34322626	0.157548	0	0	1	0	0	intronic	intronic	intronic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	Na	Na	Na	Na	Na	Na	Het;G>A	230;12|11	Hom;G>A	781;0|29
N	N	-	19	7524846	7524846	C	T	snp	synonymous SNV	C1380T	V460V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs2287914	0.1873	0.2057	0.3022	1	0	0	exonic	exonic	exonic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	synonymous SNV	synonymous SNV	unknown	ARHGEF18:NM_001130955:exon10:c.C1854T:p.V618V,ARHGEF18:NM_015318:exon11:c.C1380T:p.V460V,	ARHGEF18:uc002mgh.3:exon11:c.C1380T:p.V460V,ARHGEF18:uc002mgi.3:exon10:c.C1854T:p.V618V,ARHGEF18:uc002mgj.1:exon6:c.C783T:p.V261V,ARHGEF18:uc010xjm.1:exon12:c.C1380T:p.V460V,	UNKNOWN	Het;C>T	1722;55|47	Hom;C>T	5189;0|118
N	N	-	19	7524855	7524855	C	T	snp	synonymous SNV	C1389T	R463R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs2287915	0.227037	0.2120	0.3075	1	0	0	exonic	exonic	exonic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	synonymous SNV	synonymous SNV	unknown	ARHGEF18:NM_001130955:exon10:c.C1863T:p.R621R,ARHGEF18:NM_015318:exon11:c.C1389T:p.R463R,	ARHGEF18:uc002mgh.3:exon11:c.C1389T:p.R463R,ARHGEF18:uc002mgi.3:exon10:c.C1863T:p.R621R,ARHGEF18:uc002mgj.1:exon6:c.C792T:p.R264R,ARHGEF18:uc010xjm.1:exon12:c.C1389T:p.R463R,	UNKNOWN	Het;C>T	1685;54|45	Hom;C>T	5205;0|118
N	N	-	19	7529415	7529415	C	T	snp	intronic	 	 	 	 	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs2287919	0.155152	0.1764	0.1985	1	0	0	intronic	intronic	intronic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	Na	Na	Na	Na	Na	Na	Het;C>T	270;26|15	Hom;C>T	1065;0|39
N	N	-	19	7532252	7532252	G	C	snp	synonymous SNV	G2124C	A708A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs2303142	0.228235	0.1911	0.2205	1	0	0	exonic	exonic	exonic	ARHGEF18	ARHGEF18	ENSG00000104880,ENSG00000268861	synonymous SNV	synonymous SNV	unknown	ARHGEF18:NM_001130955:exon16:c.G2598C:p.A866A,ARHGEF18:NM_015318:exon17:c.G2124C:p.A708A,	ARHGEF18:uc002mgh.3:exon17:c.G2124C:p.A708A,ARHGEF18:uc002mgi.3:exon16:c.G2598C:p.A866A,ARHGEF18:uc002mgj.1:exon12:c.G1509C:p.A503A,ARHGEF18:uc010xjm.1:exon18:c.G2124C:p.A708A,	UNKNOWN	Het;G>C	589;37|29	Hom;G>C	2145;0|74
N	N	-	19	7535249	7535249	C	A	snp	UTR3	*65C>A	 	 	 	ARHGEF18	Arhgef18	ENSG00000104880	Rho/Rac guanine nucleotide exchange factor 18	chr19:7459999-7537363	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]		Mice homozygous for a gene trap insertion exhibit greatly reduced viability.	G alpha (12/13) signalling events	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18	https://www.uniprot.org/uniprot/Q6ZSZ5	https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616432	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18	rs12972299	0.155152	0	0	1	0	0	intronic	UTR3	UTR3	ARHGEF18	ARHGEF18(uc002mgj.1:c.*65C>A)	ENSG00000104880(ENST00000594665:c.*65C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	236;12|11	Hom;C>A	343;0|14
N	N	-	19	7747293	7747293	T	G	snp	nonsynonymous SNV	T154G	S52A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	TRAPPC5	Trappc5	ENSG00000181029	trafficking protein particle complex 5	chr19:7745729-7747744			 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0030008;TRAPP complex;IEA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC5				http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC5&submit=Quick%0D%14573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC5	rs6952	0.358027	0.3286	0.3848	0.15	2	13	exonic	exonic	exonic	TRAPPC5	TRAPPC5	ENSG00000181029,ENSG00000269711	nonsynonymous SNV	nonsynonymous SNV	unknown	TRAPPC5:NM_001042462:exon2:c.T154G:p.S52A,TRAPPC5:NM_001042461:exon2:c.T154G:p.S52A,TRAPPC5:NM_174894:exon2:c.T154G:p.S52A,	TRAPPC5:uc002mhi.1:exon2:c.T154G:p.S52A,TRAPPC5:uc002mhj.2:exon2:c.T154G:p.S52A,TRAPPC5:uc002mhk.2:exon2:c.T154G:p.S52A,TRAPPC5:uc021unw.1:exon1:c.T154G:p.S52A,	UNKNOWN	Het;T>G	189;33|11	Hom;T>G	1004;0|35
N	N	-	19	7747445	7747445	G	A	snp	synonymous SNV	G306A	A102A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRAPPC5	Trappc5	ENSG00000181029	trafficking protein particle complex 5	chr19:7745729-7747744			 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0030008;TRAPP complex;IEA	GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC5				http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC5&submit=Quick%0D%14573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC5	rs1053363	0.243011	0.2425	0.1939	1	0	0	exonic	exonic	exonic	TRAPPC5	TRAPPC5	ENSG00000181029	synonymous SNV	synonymous SNV	unknown	TRAPPC5:NM_001042462:exon2:c.G306A:p.A102A,TRAPPC5:NM_001042461:exon2:c.G306A:p.A102A,TRAPPC5:NM_174894:exon2:c.G306A:p.A102A,	TRAPPC5:uc002mhi.1:exon2:c.G306A:p.A102A,TRAPPC5:uc002mhj.2:exon2:c.G306A:p.A102A,TRAPPC5:uc002mhk.2:exon2:c.G306A:p.A102A,TRAPPC5:uc021unw.1:exon1:c.G306A:p.A102A,	UNKNOWN	Het;G>A	1629;105|83	Hom;G>A	4449;0|163
N	N	-	19	7763878	7763878	C	T	snp	intronic	 	 	 	 	FCER2	Fcer2a	ENSG00000104921	Fc fragment of IgE receptor II	chr19:7753644-7767032	The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lactate dehydrogenase severe acute respiratory syndrome; bronchodilator response; Atopy; Parkinson's disease ; Asthma; respiratory syncytial virus bronchiolitis; Meningeal Neoplasms|meningioma; lung cancer; Severe Acute Respiratory Syndrome; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lymphoma, Non-Hodgkin; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma	Mice homozygous for mutations in this gene are essentially normal although IgE levels or IgE mediated responses may be abnormal.	Interleukin-4 and 13 signaling	GO:0002925;positive regulation of humoral immune response mediated by circulating immunoglobulin;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IDA|GO:0051712;positive regulation of killing of cells of other organism;IDA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;IDA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI|GO:0019863;IgE binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FCER2	https://www.uniprot.org/uniprot/P06734		https://www.ncbi.nlm.nih.gov/omim/?term=151445	http://www.informatics.jax.org/searchtool/Search.do?query=FCER2&submit=Quick%0D%3204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCER2	rs12981234	0.368411	0	0	1	0	0	intronic	intronic	intronic	FCER2	FCER2	ENSG00000104921	Na	Na	Na	Na	Na	Na	Het;C>T	186;11|8	Hom;C>T	328;0|10
N	N	-	19	7807171	7807171	A	G	snp	UTR3	*754T>C	 	 	 	CD209	Cd209e	ENSG00000090659	CD209 molecule	chr19:7804879-7812464	This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]	Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; respiratory syncytial virus bronchiolitis; celiac disease; HIV Infections|Tuberculosis; HTLV-I Infections; Lymphadenitis|Mycobacterium Infections|Periodontitis; HIV Infections|[X]Human immunodeficiency virus disease; leprosy; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Nasopharyngeal Neoplasms; dengue disease; Hepatitis C|Remission, Spontaneous; Cytomegalovirus Infections; Dengue Hemorrhagic Fever; Hepatitis C, Chronic|Liver Cirrhosis|Liver Diseases; HIV; Dermatitis, Atopic|Eczema allergic; Arthritis, Rheumatoid|; HIV Infections; tuberculosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; null; Severe Acute Respiratory Syndrome; Tuberculosis; HIV Infections|Sexually Transmitted Diseases; Meningeal Neoplasms|meningioma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Tuberculosis, Pulmonary	Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite altered lymphocyte numbers and increased inflammatory response..	Butyrophilin (BTN) family interactions	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006897;endocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;TAS|GO:0007159;leukocyte cell-cell adhesion;NAS|GO:0009988;cell-cell recognition;TAS|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;TAS|GO:0019062;virion attachment to host cell;TAS|GO:0019079;viral genome replication;NAS|GO:0019882;antigen processing and presentation;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0042129;regulation of T cell proliferation;IDA|GO:0045087;innate immune response;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046968;peptide antigen transport;NAS|GO:0075733;intracellular transport of virus;TAS	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;NAS|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0042605;peptide antigen binding;NAS|GO:0046790;virion binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD209	https://www.uniprot.org/uniprot/Q9NNX6		https://www.ncbi.nlm.nih.gov/omim/?term=604672	http://www.informatics.jax.org/searchtool/Search.do?query=CD209&submit=Quick%0D%2114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD209	rs7248772	0.605631	0	0	1	0	0	UTR3	UTR3	UTR3	CD209(NM_021155:c.*754T>C,NM_001144899:c.*754T>C,NM_001144894:c.*754T>C,NM_001144893:c.*754T>C,NM_001144896:c.*754T>C,NM_001144895:c.*754T>C,NM_001144897:c.*754T>C)	CD209(uc010xju.1:c.*754T>C,uc010dvp.2:c.*890T>C,uc002mhr.2:c.*754T>C,uc002mhs.2:c.*754T>C,uc002mht.2:c.*754T>C,uc002mhu.2:c.*754T>C,uc010dvq.2:c.*754T>C,uc002mhq.2:c.*754T>C,uc002mhv.2:c.*754T>C,uc002mhx.2:c.*754T>C,uc002mhw.2:c.*754T>C,uc010dvr.2:c.*754T>C)	ENSG00000090659(ENST00000301357:c.*754T>C,ENST00000315599:c.*754T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	41;2|2	Hom;A>G	135;0|4
N	N	-	19	7988117	7988117	T	C	snp	UTR3	*468T>C	 	 	 	SNAPC2	Snapc2	ENSG00000104976	small nuclear RNA activating complex polypeptide 2	chr19:7985201-7988135	This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]		Mice homozygous for a knock-out allele show complete embryonic lethality before implantation associated with abnormal morula morphology, increased cell death, and failure of blastocyst formation.	RNA Polymerase III Transcription Initiation From Type 3 Promoter	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0009301;snRNA transcription;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SNAPC2	https://www.uniprot.org/uniprot/Q13487		https://www.ncbi.nlm.nih.gov/omim/?term=605076	http://www.informatics.jax.org/searchtool/Search.do?query=SNAPC2&submit=Quick%0D%3220ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAPC2	rs7788	0.386182	0	0	1	0	0	UTR3	UTR3	UTR3	SNAPC2(NM_003083:c.*468T>C)	SNAPC2(uc002miw.2:c.*468T>C)	ENSG00000104976(ENST00000221573:c.*468T>C,ENST00000597584:c.*468T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	877;39|38	Hom;T>C	1697;0|61
N	N	-	19	8200759	8200759	G	T	snp	intronic	 	 	 	 	FBN3		ENSG00000142449	fibrillin 3	chr19:8130286-8214730	This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]	Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension		Molecules associated with elastic fibres	GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FBN3	https://www.uniprot.org/uniprot/Q75N90		https://www.ncbi.nlm.nih.gov/omim/?term=608529	http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3	rs6603148	0.900359	0	0	1	0	0	intronic	intronic	intronic	FBN3	FBN3	ENSG00000142449	Na	Na	Na	Na	Na	Na	Het;G>T	300;6|14	Hom;G>T	281;0|12
N	N	-	19	8201051	8201051	T	C	snp	intronic	 	 	 	 	FBN3		ENSG00000142449	fibrillin 3	chr19:8130286-8214730	This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]	Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension		Molecules associated with elastic fibres	GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FBN3	https://www.uniprot.org/uniprot/Q75N90		https://www.ncbi.nlm.nih.gov/omim/?term=608529	http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3	rs8112525	0.900759	0.9332	0.9116	1	0	0	intronic	intronic	intronic	FBN3	FBN3	ENSG00000142449	Na	Na	Na	Na	Na	Na	Het;T>C	1091;47|48	Hom;T>C	2857;0|97
N	N	-	19	8202944	8202944	G	C	snp	intronic	 	 	 	 	FBN3		ENSG00000142449	fibrillin 3	chr19:8130286-8214730	This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]	Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension		Molecules associated with elastic fibres	GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FBN3	https://www.uniprot.org/uniprot/Q75N90		https://www.ncbi.nlm.nih.gov/omim/?term=608529	http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3	rs1531547	0.89976	0	0	1	0	0	intronic	intronic	intronic	FBN3	FBN3	ENSG00000142449	Na	Na	Na	Na	Na	Na	Het;G>C	235;1|8	Hom;G>C	216;0|7
N	N	-	19	8206553	8206553	T	C	snp	intronic	 	 	 	 	FBN3		ENSG00000142449	fibrillin 3	chr19:8130286-8214730	This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]	Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension		Molecules associated with elastic fibres	GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FBN3	https://www.uniprot.org/uniprot/Q75N90		https://www.ncbi.nlm.nih.gov/omim/?term=608529	http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3	rs73922237	0.376997	0.3108	0.3166	1	0	0	intronic	intronic	intronic	FBN3	FBN3	ENSG00000142449	Na	Na	Na	Na	Na	Na	Het;T>C	593;14|21	Hom;T>C	874;0|30
N	N	-	19	827975	827975	T	C	snp	intronic	 	 	 	 	AZU1		ENSG00000278624	azurocidin 1	chr19:825097-832017	Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]	HIV; blood pressure		Neutrophil degranulation	GO:0001774;microglial cell activation;IEP|GO:0006508;proteolysis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;NAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;TAS|GO:0008347;glial cell migration;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0016485;protein processing;IBA|GO:0019730;antimicrobial humoral response;IMP|GO:0035584;calcium-mediated signaling using intracellular calcium source;IGI|GO:0042117;monocyte activation;TAS|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043066;negative regulation of apoptotic process;NAS|GO:0043114;regulation of vascular permeability;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0045123;cellular extravasation;NAS|GO:0045348;positive regulation of MHC class II biosynthetic process;IEP|GO:0045785;positive regulation of cell adhesion;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0048246;macrophage chemotaxis;NAS|GO:0050725;positive regulation of interleukin-1 beta biosynthetic process;IDA|GO:0050754;positive regulation of fractalkine biosynthetic process;IDA|GO:0050766;positive regulation of phagocytosis;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0050930;induction of positive chemotaxis;NAS|GO:0051607;defense response to virus;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070528;protein kinase C signaling;IMP|GO:0070944;neutrophil mediated killing of bacterium;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0035577;azurophil granule membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0042582;azurophil granule;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0008233;peptidase activity;IDA|GO:0015643;toxic substance binding;NAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AZU1			https://www.ncbi.nlm.nih.gov/omim/?term=162815	http://www.informatics.jax.org/searchtool/Search.do?query=AZU1&submit=Quick%0D%22095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AZU1	rs649411	0.632188	0.5754	0	1	0	0	intronic	intronic	intronic	AZU1	AZU1	ENSG00000172232	Na	Na	Na	Na	Na	Na	Het;T>C	51;1|3	Hom;T>C	155;0|6
N	N	-	19	829723	829723	A	G	snp	intronic	 	 	 	 	AZU1		ENSG00000278624	azurocidin 1	chr19:825097-832017	Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]	HIV; blood pressure		Neutrophil degranulation	GO:0001774;microglial cell activation;IEP|GO:0006508;proteolysis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;NAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;TAS|GO:0008347;glial cell migration;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0016485;protein processing;IBA|GO:0019730;antimicrobial humoral response;IMP|GO:0035584;calcium-mediated signaling using intracellular calcium source;IGI|GO:0042117;monocyte activation;TAS|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043066;negative regulation of apoptotic process;NAS|GO:0043114;regulation of vascular permeability;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0045123;cellular extravasation;NAS|GO:0045348;positive regulation of MHC class II biosynthetic process;IEP|GO:0045785;positive regulation of cell adhesion;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0048246;macrophage chemotaxis;NAS|GO:0050725;positive regulation of interleukin-1 beta biosynthetic process;IDA|GO:0050754;positive regulation of fractalkine biosynthetic process;IDA|GO:0050766;positive regulation of phagocytosis;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0050930;induction of positive chemotaxis;NAS|GO:0051607;defense response to virus;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070528;protein kinase C signaling;IMP|GO:0070944;neutrophil mediated killing of bacterium;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0035577;azurophil granule membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0042582;azurophil granule;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0008233;peptidase activity;IDA|GO:0015643;toxic substance binding;NAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AZU1			https://www.ncbi.nlm.nih.gov/omim/?term=162815	http://www.informatics.jax.org/searchtool/Search.do?query=AZU1&submit=Quick%0D%22095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AZU1	rs678976	0.63139	0.5777	0.5290	1	0	0	intronic	intronic	intronic	AZU1	AZU1	ENSG00000172232	Na	Na	Na	Na	Na	Na	Het;A>G	698;54|36	Hom;A>G	2252;0|83
N	N	-	19	830854	830854	T	C	snp	synonymous SNV	T507C	F169F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	AZU1		ENSG00000278624	azurocidin 1	chr19:825097-832017	Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]	HIV; blood pressure		Neutrophil degranulation	GO:0001774;microglial cell activation;IEP|GO:0006508;proteolysis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;NAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;TAS|GO:0008347;glial cell migration;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0016485;protein processing;IBA|GO:0019730;antimicrobial humoral response;IMP|GO:0035584;calcium-mediated signaling using intracellular calcium source;IGI|GO:0042117;monocyte activation;TAS|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043066;negative regulation of apoptotic process;NAS|GO:0043114;regulation of vascular permeability;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0045123;cellular extravasation;NAS|GO:0045348;positive regulation of MHC class II biosynthetic process;IEP|GO:0045785;positive regulation of cell adhesion;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0048246;macrophage chemotaxis;NAS|GO:0050725;positive regulation of interleukin-1 beta biosynthetic process;IDA|GO:0050754;positive regulation of fractalkine biosynthetic process;IDA|GO:0050766;positive regulation of phagocytosis;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0050930;induction of positive chemotaxis;NAS|GO:0051607;defense response to virus;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070528;protein kinase C signaling;IMP|GO:0070944;neutrophil mediated killing of bacterium;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0035577;azurophil granule membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0042582;azurophil granule;IDA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0008233;peptidase activity;IDA|GO:0015643;toxic substance binding;NAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AZU1			https://www.ncbi.nlm.nih.gov/omim/?term=162815	http://www.informatics.jax.org/searchtool/Search.do?query=AZU1&submit=Quick%0D%22095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AZU1	rs595844	0.666933	0.6508	0.5828	1	0	0	exonic	exonic	exonic	AZU1	AZU1	ENSG00000172232	synonymous SNV	synonymous SNV	unknown	AZU1:NM_001700:exon4:c.T507C:p.F169F,	AZU1:uc002lpz.1:exon4:c.T507C:p.F169F,	UNKNOWN	Het;T>C	2533;143|121	Hom;T>C	6158;0|217
N	N	-	19	8370120	8370120	T	C	snp	UTR3	*466A>G	 	 	 	CD320	Cd320	ENSG00000167775	CD320 molecule	chr19:8367011-8373240	This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]	Neural Tube Defects	The homozygous mutant and heterozygous mice exhibited an increased mean retinal artery-to-vein ratio when compared with controls. Mice homozygous for a gene trap knock-out allele exhibit vitamin B12 deficiency in the central nervous system.	Defective CD320 causes methylmalonic aciduria	GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IMP|GO:0030656;regulation of vitamin metabolic process;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0031296;B cell costimulation;IMP	GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0015235;cobalamin transporter activity;TAS|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD320		https://hpo.jax.org/app/browse/search?q=CD320&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606475	http://www.informatics.jax.org/searchtool/Search.do?query=CD320&submit=Quick%0D%12114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD320	rs2232778	0.697883	0	0	1	0	0	intronic	intronic	UTR3	CD320	CD320	ENSG00000167775(ENST00000596002:c.*466A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	713;17|24	Hom;T>C	1694;0|55
N	N	-	19	862024	862024	C	G	snp	intronic	 	 	 	 	CFD	Cfd	ENSG00000274619	complement factor D	chr19:859453-863453	This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]	Lymphoma, Non-Hodgkin; Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease	Mice homozygous for a knock-out allele show impaired complement activation by alternative pathway activators, and increased susceptibility to pneumococcal infection.	Neutrophil degranulation	GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0006508;proteolysis;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IEA	GO:0005576;extracellular region;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004252;serine-type endopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CFD		https://hpo.jax.org/app/browse/search?q=CFD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134350	http://www.informatics.jax.org/searchtool/Search.do?query=CFD&submit=Quick%0D%21158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFD	rs1683561	0.504593	0	0	1	0	0	intronic	intronic	intronic	CFD	CFD	ENSG00000197766	Na	Na	Na	Na	Na	Na	Het;C>G	118;5|6	Hom;C>G	239;0|9
N	N	-	19	873258	873258	C	G	snp	intronic	 	 	 	 	MED16	Med16	ENSG00000282092	mediator complex subunit 16	chr19:867962-893218			 					http://www.genecards.org/index.php?path=/Search/keyword/MED16			https://www.ncbi.nlm.nih.gov/omim/?term=604062	http://www.informatics.jax.org/searchtool/Search.do?query=MED16&submit=Quick%0D%22400ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED16	rs1683575	0.680312	0	0	1	0	0	intronic	intronic	intronic	MED16	MED16	ENSG00000175221	Na	Na	Na	Na	Na	Na	Het;C>G	45;3|3	Hom;C>G	106;0|4
N	N	-	19	8808373	8808373	G	T	snp	nonsynonymous SNV	C679A	H227N	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ACTL9	Actl9	ENSG00000181786	actin like 9	chr19:8807751-8809172			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ACTL9				http://www.informatics.jax.org/searchtool/Search.do?query=ACTL9&submit=Quick%0D%14670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTL9	rs4804079	0.60004	0.5280	0.5524	1	0	0	exonic	exonic	exonic	ACTL9	ACTL9	ENSG00000181786	nonsynonymous SNV	nonsynonymous SNV	unknown	ACTL9:NM_178525:exon1:c.C679A:p.H227N,	ACTL9:uc002mkl.2:exon1:c.C679A:p.H227N,	UNKNOWN	Het;G>T	948;45|48	Hom;G>T	2389;0|84
N	N	-	19	885818	885818	A	G	snp	synonymous SNV	T306C	F102F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	MED16	Med16	ENSG00000282092	mediator complex subunit 16	chr19:867962-893218			 					http://www.genecards.org/index.php?path=/Search/keyword/MED16			https://www.ncbi.nlm.nih.gov/omim/?term=604062	http://www.informatics.jax.org/searchtool/Search.do?query=MED16&submit=Quick%0D%22400ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED16	rs1060442	0.621206	0.6183	0.6015	1	0	0	exonic	exonic	exonic	MED16	MED16	ENSG00000175221	synonymous SNV	synonymous SNV	unknown	MED16:NM_005481:exon5:c.T831C:p.F277F,	MED16:uc010drw.2:exon1:c.T306C:p.F102F,MED16:uc010xfw.1:exon4:c.T798C:p.F266F,MED16:uc002lqe.3:exon5:c.T798C:p.F266F,MED16:uc002lqf.3:exon5:c.T798C:p.F266F,MED16:uc002lqd.1:exon5:c.T831C:p.F277F,	UNKNOWN	Het;A>G	1425;86|70	Hom;A>G	4085;0|148
N	N	-	19	918407	918411	GGGGA	G	indel	intronic	 	 	 	 	KISS1R	Kiss1r	ENSG00000116014	KISS1 receptor	chr19:917287-921015	The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]	Puberty, Precocious; Bone Mineral Density; hypogonaotropic hypogonadism; Hypogonadism|Kallmann Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; age at menarche; hypogonadotropic hypogonadism 	Homozygous null mutations result in male and female infertility associated with abnormal sexual maturation and hypogonadotropic hypogonadism.	G alpha (q) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IBA|GO:0007218;neuropeptide signaling pathway;IEA	GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;IDA|GO:0008528;G-protein coupled peptide receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KISS1R	https://www.uniprot.org/uniprot/Q969F8	https://hpo.jax.org/app/browse/search?q=KISS1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604161	http://www.informatics.jax.org/searchtool/Search.do?query=KISS1R&submit=Quick%0D%4690ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KISS1R	rs145349054	0.758387	0	0	1	0	0	intronic	intronic	intronic	KISS1R	KISS1R	ENSG00000116014	Na	Na	Na	Na	Na	Na	Het;-GGGA	380;1|10	Hom;-GGGA	413;0|10
N	N	-	19	9204307	9204307	A	G	snp	synonymous SNV	A387G	P129P	hydrophobic,neutral	hydrophobic,neutral	OR1M1	Olfr24	ENSG00000170929	olfactory receptor family 1 subfamily M member 1	chr19:9203855-9204889	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR1M1				http://www.informatics.jax.org/searchtool/Search.do?query=OR1M1&submit=Quick%0D%12812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1M1	rs4804097	0.717452	0.6505	0.6769	1	0	0	exonic	exonic	exonic	OR1M1	OR1M1	ENSG00000170929	synonymous SNV	synonymous SNV	unknown	OR1M1:NM_001004456:exon1:c.A387G:p.P129P,	OR1M1:uc010xkj.2:exon1:c.A387G:p.P129P,	UNKNOWN	Het;A>G	2009;106|92	Hom;A>G	5412;2|197
N	N	-	19	9212864	9212864	A	C	snp	downstream	 	 	 	 	OR7G2	Olfr853	ENSG00000170923	olfactory receptor family 7 subfamily G member 2	chr19:9212945-9213982	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR7G2				http://www.informatics.jax.org/searchtool/Search.do?query=OR7G2&submit=Quick%0D%12809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G2	rs4804399	0.555112	0	0	1	0	0	downstream	downstream	downstream	OR7G2	OR7G2	ENSG00000170923	Na	Na	Na	Na	Na	Na	Het;A>C	135;10|5	Hom;A>C	261;0|8
N	N	-	19	9213026	9213026	T	C	snp	synonymous SNV	A957G	K319K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	OR7G2	Olfr853	ENSG00000170923	olfactory receptor family 7 subfamily G member 2	chr19:9212945-9213982	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR7G2				http://www.informatics.jax.org/searchtool/Search.do?query=OR7G2&submit=Quick%0D%12809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G2	rs4804400	0.332867	0.2812	0.3376	1	0	0	exonic	exonic	exonic	OR7G2	OR7G2	ENSG00000170923	synonymous SNV	synonymous SNV	unknown	OR7G2:NM_001005193:exon1:c.A957G:p.K319K,	OR7G2:uc010xkk.2:exon1:c.A957G:p.K319K,	UNKNOWN	Het;T>C	1407;72|63	Hom;T>C	3174;0|115
N	N	-	19	9213079	9213079	A	C	snp	nonsynonymous SNV	T904G	F302V	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR7G2	Olfr853	ENSG00000170923	olfactory receptor family 7 subfamily G member 2	chr19:9212945-9213982	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR7G2				http://www.informatics.jax.org/searchtool/Search.do?query=OR7G2&submit=Quick%0D%12809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G2	rs4804401	0.332468	0.2815	0.3375	0.23	3	13	exonic	exonic	exonic	OR7G2	OR7G2	ENSG00000170923	nonsynonymous SNV	nonsynonymous SNV	unknown	OR7G2:NM_001005193:exon1:c.T904G:p.F302V,	OR7G2:uc010xkk.2:exon1:c.T904G:p.F302V,	UNKNOWN	Het;A>C	1399;65|63	Hom;A>C	2303;0|81
N	N	-	19	9213132	9213132	A	G	snp	nonsynonymous SNV	T851C	V284A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR7G2	Olfr853	ENSG00000170923	olfactory receptor family 7 subfamily G member 2	chr19:9212945-9213982	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR7G2				http://www.informatics.jax.org/searchtool/Search.do?query=OR7G2&submit=Quick%0D%12809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G2	rs12610094	0.404553	0.3538	0.4079	0.08	1	13	exonic	exonic	exonic	OR7G2	OR7G2	ENSG00000170923	nonsynonymous SNV	nonsynonymous SNV	unknown	OR7G2:NM_001005193:exon1:c.T851C:p.V284A,	OR7G2:uc010xkk.2:exon1:c.T851C:p.V284A,	UNKNOWN	Het;A>G	1248;57|58	Hom;A>G	2431;0|86
N	N	-	19	9967429	9967429	C	T	snp	intronic	 	 	 	 	OLFM2	Olfm2	ENSG00000105088	olfactomedin 2	chr19:9964394-10047228		Menarche; glaucoma, primary open-angle	Mice homozygous for a knock-out allele exhibit moderate locomotor and anxiety-related behavioral abnormalities, altered visual evoked potential, and reduced compactness of myelin sheaths in the optic nerve.		GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009306;protein secretion;IDA|GO:0051152;positive regulation of smooth muscle cell differentiation;IMP	GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0045202;synapse;IEA|GO:0097060;synaptic membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/OLFM2	https://www.uniprot.org/uniprot/O95897		https://www.ncbi.nlm.nih.gov/omim/?term=617492	http://www.informatics.jax.org/searchtool/Search.do?query=OLFM2&submit=Quick%0D%3232ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OLFM2	rs34631855	0.0219649	0	0	1	0	0	intronic	intronic	intronic	OLFM2	OLFM2	ENSG00000105088	Na	Na	Na	Na	Na	Na	Het;C>T	600;24|29	Hom;C>T	1395;0|50
N	N	-	19	9968434	9968434	C	T	snp	nonsynonymous SNV	G389A	R130Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	OLFM2	Olfm2	ENSG00000105088	olfactomedin 2	chr19:9964394-10047228		Menarche; glaucoma, primary open-angle	Mice homozygous for a knock-out allele exhibit moderate locomotor and anxiety-related behavioral abnormalities, altered visual evoked potential, and reduced compactness of myelin sheaths in the optic nerve.		GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009306;protein secretion;IDA|GO:0051152;positive regulation of smooth muscle cell differentiation;IMP	GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0045202;synapse;IEA|GO:0097060;synaptic membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/OLFM2	https://www.uniprot.org/uniprot/O95897		https://www.ncbi.nlm.nih.gov/omim/?term=617492	http://www.informatics.jax.org/searchtool/Search.do?query=OLFM2&submit=Quick%0D%3232ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OLFM2	rs2303100	0.310503	0.4061	0.4593	0.38	5	13	exonic	exonic	exonic	OLFM2	OLFM2	ENSG00000105088	nonsynonymous SNV	nonsynonymous SNV	unknown	OLFM2:NM_001304347:exon3:c.G389A:p.R130Q,OLFM2:NM_001304348:exon2:c.G83A:p.R28Q,OLFM2:NM_058164:exon3:c.G317A:p.R106Q,	OLFM2:uc002mmp.3:exon3:c.G317A:p.R106Q,	UNKNOWN	Het;C>T	1071;34|49	Hom;C>T	2668;0|101
N	N	-	1	100111956	100111956	A	G	snp	intronic	 	 	 	 	PALMD	Palmd	ENSG00000099260	palmdelphin	chr1:100111499-100160097		Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left; Aortic root size; Platelet Aggregation	 		GO:0008360;regulation of cell shape;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PALMD	https://www.uniprot.org/uniprot/Q9NP74		https://www.ncbi.nlm.nih.gov/omim/?term=610182	http://www.informatics.jax.org/searchtool/Search.do?query=PALMD&submit=Quick%0D%2304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PALMD	rs834997	0.257588	0.3349	0.2672	1	0	0	intronic	intronic	intronic	PALMD	PALMD	ENSG00000099260	Na	Na	Na	Na	Na	Na	Het;A>G	834;21|37	Hom;A>G	1518;1|55
N	N	-	1	100797449	100797449	A	T	snp	ncRNA_exonic	 	 	 	 	AC104457.1																		rs614766	0.625799	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RTCA(dist=39124),CDC14A(dist=20574)	RTCA(dist=39124),CDC14A(dist=13135)	ENSG00000215871	Na	Na	Na	Na	Na	Na	Het;A>T	420;16|18	Hom;A>T	902;0|32
N	N	-	1	100797473	100797473	T	C	snp	ncRNA_exonic	 	 	 	 	AC104457.1																		rs614805	0.636981	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RTCA(dist=39148),CDC14A(dist=20550)	RTCA(dist=39148),CDC14A(dist=13111)	ENSG00000215871	Na	Na	Na	Na	Na	Na	Het;T>C	286;15|13	Hom;T>C	1001;0|34
N	N	-	1	100970346	100970346	T	C	snp	intronic	 	 	 	 	CDC14A	Cdc14a	ENSG00000079335	cell division cycle 14A	chr1:100810584-100985833	The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Colorectal Neoplasms|Microsatellite Instability|Stomach Neoplasms; breast cancer; Tobacco Use Disorder	 	MAPK6/MAPK4 signaling	GO:0006470;protein dephosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007096;regulation of exit from mitosis;IBA|GO:0008283;cell proliferation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051256;mitotic spindle midzone assembly;IBA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IBA|GO:0071850;mitotic cell cycle arrest;IBA	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016604;nuclear body;IDA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA|GO:0072686;mitotic spindle;IBA	GO:0004721;phosphoprotein phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;TAS|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDC14A	https://www.uniprot.org/uniprot/Q9UNH5	https://hpo.jax.org/app/browse/search?q=CDC14A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603504	http://www.informatics.jax.org/searchtool/Search.do?query=CDC14A&submit=Quick%0D%1697ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC14A	rs10875295	0.49361	0	0.4396	1	0	0	intronic	intronic	intronic	CDC14A	CDC14A	ENSG00000079335	Na	Na	Na	Na	Na	Na	Het;T>C	684;44|34	Hom;T>C	1892;0|66
N	N	-	1	101598898	101598898	A	AAAAC	indel	downstream	 	 	 	 	SCARNA16																		rs142110146	0	0	0	1	0	0	intergenic	intergenic	downstream	LOC102606465(dist=45963),LOC101928370(dist=101531)	BX538249(dist=46079),S1PR1(dist=103407)	ENSG00000252765	Na	Na	Na	Na	Na	Na	Het;+AAAC	44;15|3	Hom;+AAAC	457;0|11
N	N	-	1	102092900	102092900	C	G	snp	intergenic	 	 	 	 	LINC01307																		rs3964655	0.737819	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01307(dist=250031),OLFM3(dist=175223)	RNU6-31P(dist=286449),OLFM3(dist=175227)	ENSG00000231671(dist=237041),ENSG00000226715(dist=96398)	Na	Na	Na	Na	Na	Na	Het;C>G	701;47|33	Hom;C>G	1150;0|41
N	N	-	1	103380379	103380379	T	TA	indel	intronic	 	 	 	 	COL11A1	Col11a1	ENSG00000060718	collagen type XI alpha 1 chain	chr1:103342023-103574052	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]	colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate	Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.	Collagen chain trimerization	GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/COL11A1	https://www.uniprot.org/uniprot/P12107	https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120280	http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1	rs34228277	0.459265	0	0.5085	1	0	0	intronic	intronic	intronic	COL11A1	COL11A1	ENSG00000060718	Na	Na	Na	Na	Na	Na	Het;+A	421;16|26	Hom;+A	391;4|20
N	N	-	1	104076537	104076537	A	T	snp	intronic	 	 	 	 	RNPC3	Rnpc3	ENSG00000185946	RNA binding region (RNP1, RRM) containing 3	chr1:104068313-104097861	Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]	ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA	Embryos homozygous for a knock-out allele fail to develop beyond the morula stage and die before implantation.	mRNA Splicing - Minor Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IC|GO:0032502;developmental process;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005689;U12-type spliceosomal complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0030626;U12 snRNA binding;IBA|GO:0097157;pre-mRNA intronic binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNPC3		https://hpo.jax.org/app/browse/search?q=RNPC3&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=RNPC3&submit=Quick%0D%15529ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNPC3	rs6702324	0.644169	0	0	1	0	0	intronic	intronic	intronic	RNPC3	RNPC3	ENSG00000185946	Na	Na	Na	Na	Na	Na	Het;A>T	301;2|14	Hom;A>T	281;0|9
N	N	-	1	104117682	104117684	GTA	G	indel	intronic	 	 	 	 	AMY2B	Amy2a5	ENSG00000240038	amylase, alpha 2B (pancreatic)	chr1:104096437-104122156	Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]	insulin	 	Digestion of dietary carbohydrate	GO:0005975;carbohydrate metabolic process;NAS|GO:0007586;digestion;TAS|GO:0008152;metabolic process;IEA	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004556;alpha-amylase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AMY2B			https://www.ncbi.nlm.nih.gov/omim/?term=104660	http://www.informatics.jax.org/searchtool/Search.do?query=AMY2B&submit=Quick%0D%19603ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMY2B	rs59615316	0	0	0	1	0	0	intronic	intronic	intronic	AMY2B	AMY2B	ENSG00000240038	Na	Na	Na	Na	Na	Na	Het;-TA	182;1|7	Hom;-TA	85;0|4
N	N	-	1	104616337	104616337	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100129138																		rs6664203	0.635583	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100129138	LOC100129138	ENSG00000215869	Na	Na	Na	Na	Na	Na	Het;A>G	1869;89|84	Hom;A>G	5503;3|191
N	N	-	1	104616559	104616559	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100129138																		rs6698497	0.634784	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100129138	LOC100129138	ENSG00000215869	Na	Na	Na	Na	Na	Na	Het;G>A	629;14|25	Hom;G>A	1704;1|60
N	N	-	1	105123375	105123375	T	G	snp	intergenic	 	 	 	 	FTLP17																		rs4570432	0.487819	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100129138(dist=503682),LOC101928476(dist=1008941)	LOC100129138(dist=503682),BC043293(dist=1021399)	ENSG00000228347(dist=426923),ENSG00000225036(dist=853241)	Na	Na	Na	Na	Na	Na	Het;T>G	125;12|8	Hom;T>G	212;0|9
N	N	-	1	105419370	105419370	A	T	snp	intergenic	 	 	 	 	FTLP17																		rs12118104	0.556909	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100129138(dist=799677),LOC101928476(dist=712946)	LOC100129138(dist=799677),BC043293(dist=725404)	ENSG00000228347(dist=722918),ENSG00000225036(dist=557246)	Na	Na	Na	Na	Na	Na	Het;A>T	414;19|21	Hom;A>T	635;2|27
N	N	-	1	105419415	105419415	G	A	snp	intergenic	 	 	 	 	FTLP17																		rs12121410	0.559305	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100129138(dist=799722),LOC101928476(dist=712901)	LOC100129138(dist=799722),BC043293(dist=725359)	ENSG00000228347(dist=722963),ENSG00000225036(dist=557201)	Na	Na	Na	Na	Na	Na	Het;G>A	423;23|21	Hom;G>A	905;2|36
N	N	-	1	105419539	105419539	C	T	snp	intergenic	 	 	 	 	FTLP17																		rs4275466	0.556709	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100129138(dist=799846),LOC101928476(dist=712777)	LOC100129138(dist=799846),BC043293(dist=725235)	ENSG00000228347(dist=723087),ENSG00000225036(dist=557077)	Na	Na	Na	Na	Na	Na	Het;C>T	76;8|4	Hom;C>T	259;0|9
N	N	-	1	105719161	105719161	T	G	snp	intergenic	 	 	 	 	FTLP17																		rs7527049	0.778754	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100129138(dist=1099468),LOC101928476(dist=413155)	LOC100129138(dist=1099468),BC043293(dist=425613)	ENSG00000228347(dist=1022709),ENSG00000225036(dist=257455)	Na	Na	Na	Na	Na	Na	Het;T>G	271;27|15	Hom;T>G	527;0|21
N	N	-	1	10627619	10627619	C	T	snp	intronic	 	 	 	 	PEX14	Pex14	ENSG00000142655	peroxisomal biogenesis factor 14	chr1:10532345-10690815	This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Neuroblastoma; Tobacco Use Disorder; Eye	Homozygous disruption of this locus results in embryonic lethality.		GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0007031;peroxisome organization;ISS|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IMP|GO:0016560;protein import into peroxisome matrix, docking;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0034453;microtubule anchoring;IDA|GO:0036250;peroxisome transport along microtubule;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0044721;protein import into peroxisome matrix, substrate release;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051260;protein homooligomerization;IDA|GO:1901094;negative regulation of protein homotetramerization;IDA	GO:0001650;fibrillar center;IDA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;NAS|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA|GO:1990429;peroxisomal importomer complex;IBA	GO:0003714;transcription corepressor activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0048487;beta-tubulin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX14	https://www.uniprot.org/uniprot/O75381	https://hpo.jax.org/app/browse/search?q=PEX14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601791	http://www.informatics.jax.org/searchtool/Search.do?query=PEX14&submit=Quick%0D%8316ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX14	rs6661757	0.616414	0	0	1	0	0	intronic	intronic	intronic	PEX14	PEX14	ENSG00000142655	Na	Na	Na	Na	Na	Na	Het;C>T	78;1|4	Hom;C>T	113;0|4
N	N	-	1	10740444	10740444	T	A	snp	intronic	 	 	 	 	CASZ1	Casz1	ENSG00000130940	castor zinc finger 1	chr1:10696661-10856707	The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]	Migraine with Aura; Blood Pressure; Cholesterol, LDL; Hemoglobin A, Glycosylated; hypertension; systolic blood pressure	Mice homozygous for a knock-out allele exhibit complete lethality throughout fetal growth and development and abnormal heart development associated with edema, decreased fetal cardiomyocyte proliferation, myocardium hypoplasia, ventricular septal defect, and altered heart shape and Z line formation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0045664;regulation of neuron differentiation;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CASZ1	https://www.uniprot.org/uniprot/Q86V15		https://www.ncbi.nlm.nih.gov/omim/?term=609895	http://www.informatics.jax.org/searchtool/Search.do?query=CASZ1&submit=Quick%0D%6465ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CASZ1	rs521513	0.293331	0	0	1	0	0	intronic	intronic	intronic	CASZ1	CASZ1	ENSG00000130940	Na	Na	Na	Na	Na	Na	Het;T>A	93;3|6	Hom;T>A	85;0|4
N	N	-	1	108139003	108139003	C	T	snp	intronic	 	 	 	 	VAV3	Vav3	ENSG00000134215	vav guanine nucleotide exchange factor 3	chr1:108113782-108507766	This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Sodium; Hypothyroidism; Exercise Test; Waist-Hip Ratio; Cholesterol, HDL; coronary spastic angina; platelet signaling; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Glaucoma, Angle-Closure|Glaucoma, Open-Angle	Homozygous mutation of this gene results in tachycardia, systemic arterial hypertension, cardiovascular remodeling, hyperactivity of sympathetic neurons and thus high catecholamine levels, and increased levels of kidney-related hormones.	VEGFR2 mediated vascular permeability	GO:0001525;angiogenesis;IEA|GO:0006906;vesicle fusion;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0008361;regulation of cell size;IGI|GO:0009967;positive regulation of signal transduction;IEA|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042493;response to drug;IMP|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050853;B cell receptor signaling pathway;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VAV3	https://www.uniprot.org/uniprot/Q9UKW4		https://www.ncbi.nlm.nih.gov/omim/?term=605541	http://www.informatics.jax.org/searchtool/Search.do?query=VAV3&submit=Quick%0D%6931ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV3	rs3748702	0.326278	0.3565	0.3631	1	0	0	intronic	intronic	intronic	VAV3	VAV3	ENSG00000134215	Na	Na	Na	Na	Na	Na	Het;C>T	657;52|33	Hom;C>T	2209;1|87
N	N	-	1	108765278	108765278	A	G	snp	downstream	 	 	 	 	NBPF4	 	ENSG00000196427	NBPF member 4	chr1:108765963-108786689	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]		 			GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF4			https://www.ncbi.nlm.nih.gov/omim/?term=613994	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF4&submit=Quick%0D%16360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF4	rs12129033	0.463059	0	0	1	0	0	downstream	downstream	downstream	NBPF4	NBPF4	ENSG00000196427	Na	Na	Na	Na	Na	Na	Het;A>G	998;13|43	Hom;A>G	1652;0|59
N	N	-	1	108766133	108766133	A	G	snp	UTR3	*194T>C	 	 	 	NBPF4	 	ENSG00000196427	NBPF member 4	chr1:108765963-108786689	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]		 			GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF4			https://www.ncbi.nlm.nih.gov/omim/?term=613994	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF4&submit=Quick%0D%16360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF4	rs3870737	0.444089	0	0	1	0	0	UTR3	UTR3	UTR3	NBPF4(NM_001143989:c.*194T>C)	NBPF4(uc009weo.2:c.*194T>C)	ENSG00000196427(ENST00000415641:c.*194T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1700;87|77	Hom;A>G	2729;9|108
N	N	-	1	108766424	108766424	A	G	snp	intronic	 	 	 	 	NBPF4	 	ENSG00000196427	NBPF member 4	chr1:108765963-108786689	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]		 			GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF4			https://www.ncbi.nlm.nih.gov/omim/?term=613994	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF4&submit=Quick%0D%16360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF4	rs3879436	0.404553	0	0	1	0	0	intronic	intronic	intronic	NBPF4	NBPF4	ENSG00000196427	Na	Na	Na	Na	Na	Na	Het;A>G	362;21|16	Hom;A>G	909;0|29
N	N	-	1	109289353	109289353	C	G	snp	UTR5	-7C>G	 	 	 	STXBP3	Stxbp3	ENSG00000116266	syntaxin binding protein 3	chr1:109289296-109352148		Type 2 diabetes	Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex.	Translocation of GLUT4 to the plasma membrane	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007420;brain development;IEA|GO:0015031;protein transport;IEA|GO:0015758;glucose transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0022615;protein to membrane docking;IEA|GO:0030073;insulin secretion;IEA|GO:0032868;response to insulin;IEA|GO:0043312;neutrophil degranulation;IEP|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IMP|GO:0051291;protein heterooligomerization;IEA|GO:0070527;platelet aggregation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031091;platelet alpha granule;IDA|GO:0042581;specific granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA	GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP3	https://www.uniprot.org/uniprot/O00186		https://www.ncbi.nlm.nih.gov/omim/?term=608339	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP3&submit=Quick%0D%4731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP3	rs1124427	0.573083	0.7721	0.6849	1	0	0	UTR5	UTR5	UTR5	STXBP3(NM_007269:c.-7C>G)	STXBP3(uc021oqz.1:c.-7C>G,uc001dvy.3:c.-7C>G)	ENSG00000116266(ENST00000370008:c.-7C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	832;42|40	Hom;C>G	1821;0|63
N	N	-	1	109289487	109289487	C	T	snp	intronic	 	 	 	 	STXBP3	Stxbp3	ENSG00000116266	syntaxin binding protein 3	chr1:109289296-109352148		Type 2 diabetes	Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex.	Translocation of GLUT4 to the plasma membrane	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007420;brain development;IEA|GO:0015031;protein transport;IEA|GO:0015758;glucose transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0022615;protein to membrane docking;IEA|GO:0030073;insulin secretion;IEA|GO:0032868;response to insulin;IEA|GO:0043312;neutrophil degranulation;IEP|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IMP|GO:0051291;protein heterooligomerization;IEA|GO:0070527;platelet aggregation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031091;platelet alpha granule;IDA|GO:0042581;specific granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA	GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP3	https://www.uniprot.org/uniprot/O00186		https://www.ncbi.nlm.nih.gov/omim/?term=608339	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP3&submit=Quick%0D%4731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP3	rs6604120	0.572684	0	0	1	0	0	intronic	intronic	intronic	STXBP3	STXBP3	ENSG00000116266	Na	Na	Na	Na	Na	Na	Het;C>T	375;17|18	Hom;C>T	1077;0|38
N	N	-	1	109299453	109299453	C	G	snp	intronic	 	 	 	 	STXBP3	Stxbp3	ENSG00000116266	syntaxin binding protein 3	chr1:109289296-109352148		Type 2 diabetes	Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex.	Translocation of GLUT4 to the plasma membrane	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007420;brain development;IEA|GO:0015031;protein transport;IEA|GO:0015758;glucose transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0022615;protein to membrane docking;IEA|GO:0030073;insulin secretion;IEA|GO:0032868;response to insulin;IEA|GO:0043312;neutrophil degranulation;IEP|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IMP|GO:0051291;protein heterooligomerization;IEA|GO:0070527;platelet aggregation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031091;platelet alpha granule;IDA|GO:0042581;specific granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA	GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP3	https://www.uniprot.org/uniprot/O00186		https://www.ncbi.nlm.nih.gov/omim/?term=608339	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP3&submit=Quick%0D%4731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP3	rs1277044	0.575679	0	0	1	0	0	intronic	intronic	intronic	STXBP3	STXBP3	ENSG00000116266	Na	Na	Na	Na	Na	Na	Het;C>G	368;19|16	Hom;C>G	1254;0|43
N	N	-	1	109301250	109301250	G	C	snp	intronic	 	 	 	 	STXBP3	Stxbp3	ENSG00000116266	syntaxin binding protein 3	chr1:109289296-109352148		Type 2 diabetes	Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex.	Translocation of GLUT4 to the plasma membrane	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007420;brain development;IEA|GO:0015031;protein transport;IEA|GO:0015758;glucose transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0022615;protein to membrane docking;IEA|GO:0030073;insulin secretion;IEA|GO:0032868;response to insulin;IEA|GO:0043312;neutrophil degranulation;IEP|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IMP|GO:0051291;protein heterooligomerization;IEA|GO:0070527;platelet aggregation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031091;platelet alpha granule;IDA|GO:0042581;specific granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA	GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP3	https://www.uniprot.org/uniprot/O00186		https://www.ncbi.nlm.nih.gov/omim/?term=608339	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP3&submit=Quick%0D%4731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP3	rs1277042	0.575479	0.7442	0.6775	1	0	0	intronic	intronic	intronic	STXBP3	STXBP3	ENSG00000116266	Na	Na	Na	Na	Na	Na	Het;G>C	626;27|32	Hom;G>C	1427;0|55
N	N	-	1	109315211	109315211	A	G	snp	intronic	 	 	 	 	STXBP3	Stxbp3	ENSG00000116266	syntaxin binding protein 3	chr1:109289296-109352148		Type 2 diabetes	Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex.	Translocation of GLUT4 to the plasma membrane	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007420;brain development;IEA|GO:0015031;protein transport;IEA|GO:0015758;glucose transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0022615;protein to membrane docking;IEA|GO:0030073;insulin secretion;IEA|GO:0032868;response to insulin;IEA|GO:0043312;neutrophil degranulation;IEP|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IMP|GO:0051291;protein heterooligomerization;IEA|GO:0070527;platelet aggregation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031091;platelet alpha granule;IDA|GO:0042581;specific granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA	GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP3	https://www.uniprot.org/uniprot/O00186		https://www.ncbi.nlm.nih.gov/omim/?term=608339	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP3&submit=Quick%0D%4731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP3	rs1623641	0.576078	0	0	1	0	0	intronic	intronic	intronic	STXBP3	STXBP3	ENSG00000116266	Na	Na	Na	Na	Na	Na	Het;A>G	314;12|12	Hom;A>G	513;0|15
N	N	-	1	109325436	109325436	T	C	snp	intronic	 	 	 	 	STXBP3	Stxbp3	ENSG00000116266	syntaxin binding protein 3	chr1:109289296-109352148		Type 2 diabetes	Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex.	Translocation of GLUT4 to the plasma membrane	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007420;brain development;IEA|GO:0015031;protein transport;IEA|GO:0015758;glucose transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0022615;protein to membrane docking;IEA|GO:0030073;insulin secretion;IEA|GO:0032868;response to insulin;IEA|GO:0043312;neutrophil degranulation;IEP|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IMP|GO:0051291;protein heterooligomerization;IEA|GO:0070527;platelet aggregation;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031091;platelet alpha granule;IDA|GO:0042581;specific granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA	GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP3	https://www.uniprot.org/uniprot/O00186		https://www.ncbi.nlm.nih.gov/omim/?term=608339	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP3&submit=Quick%0D%4731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP3	rs1298092	0.592452	0	0	1	0	0	intronic	intronic	intronic	STXBP3	STXBP3	ENSG00000116266	Na	Na	Na	Na	Na	Na	Het;T>C	140;1|6	Hom;T>C	262;0|10
N	N	-	1	109714403	109714403	C	A	snp	intronic	 	 	 	 	KIAA1324	5330417C22Rik	ENSG00000116299	KIAA1324	chr1:109656301-109749401	Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]	Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain	Male homozygous mice are infertile.  Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides.		GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324	https://www.uniprot.org/uniprot/Q6UXG2		https://www.ncbi.nlm.nih.gov/omim/?term=611298	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324	rs17014495	0.52516	0	0	1	0	0	intronic	intronic	intronic	KIAA1324	KIAA1324	ENSG00000116299	Na	Na	Na	Na	Na	Na	Het;C>A	34;2|2	Hom;C>A	364;0|12
N	N	-	1	109792735	109792735	A	ACGC	indel	nonframeshift substitution	34_34delinsACGC	 	 	 	CELSR2	Celsr2	ENSG00000143126	cadherin EGF LAG seven-pass G-type receptor 2	chr1:109792641-109818372	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]	plasma lipoprotein traits; Coronary Disease; dementia; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Myocardial Infarction; Cholesterol; Coronary Artery Disease; GRN protein, human; Cholesterol, total; 1-Alkyl-2-acetylglycerophosphocholine Esterase; Coronary Artery Disease|; Myocardial Infarction; lipid concentrations; Cardiovascular Diseases; myocardial infarction (early onset); Lipoproteins, LDL; Cholesterol, LDL; Type 2 diabetes; Triglycerides; LDL cholesterol; normal variation; Lipid Metabolism Disorders	Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.		GO:0006355;regulation of transcription, DNA-templated;ISS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;ISS|GO:0021999;neural plate anterior/posterior regionalization;ISS|GO:0022407;regulation of cell-cell adhesion;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CELSR2	https://www.uniprot.org/uniprot/Q9HCU4		https://www.ncbi.nlm.nih.gov/omim/?term=604265	http://www.informatics.jax.org/searchtool/Search.do?query=CELSR2&submit=Quick%0D%8367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR2	rs144034706	0.568291	0.6103	0.6876	1	0	0	exonic	exonic	exonic	CELSR2	CELSR2	ENSG00000143126	nonframeshift substitution	nonframeshift substitution	nonframeshift substitution	CELSR2:NM_001408:exon1:c.34_34delinsACGC,	CELSR2:uc001dxa.4:exon1:c.34_34delinsACGC,	ENSG00000143126:ENST00000271332:exon1:c.34_34delinsACGC,	Het;+CGC	1632;4|39	Hom;+CGC	1062;0|23
N	N	-	1	109813510	109813510	A	T	snp	intronic	 	 	 	 	CELSR2	Celsr2	ENSG00000143126	cadherin EGF LAG seven-pass G-type receptor 2	chr1:109792641-109818372	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]	plasma lipoprotein traits; Coronary Disease; dementia; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Myocardial Infarction; Cholesterol; Coronary Artery Disease; GRN protein, human; Cholesterol, total; 1-Alkyl-2-acetylglycerophosphocholine Esterase; Coronary Artery Disease|; Myocardial Infarction; lipid concentrations; Cardiovascular Diseases; myocardial infarction (early onset); Lipoproteins, LDL; Cholesterol, LDL; Type 2 diabetes; Triglycerides; LDL cholesterol; normal variation; Lipid Metabolism Disorders	Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.		GO:0006355;regulation of transcription, DNA-templated;ISS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;ISS|GO:0021999;neural plate anterior/posterior regionalization;ISS|GO:0022407;regulation of cell-cell adhesion;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CELSR2	https://www.uniprot.org/uniprot/Q9HCU4		https://www.ncbi.nlm.nih.gov/omim/?term=604265	http://www.informatics.jax.org/searchtool/Search.do?query=CELSR2&submit=Quick%0D%8367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR2	rs41279716	0.119409	0.1671	0.1700	1	0	0	intronic	intronic	intronic	CELSR2	CELSR2	ENSG00000143126	Na	Na	Na	Na	Na	Na	Het;A>T	684;30|30	Hom;A>T	1728;0|57
N	N	-	1	109813719	109813719	C	T	snp	intronic	 	 	 	 	CELSR2	Celsr2	ENSG00000143126	cadherin EGF LAG seven-pass G-type receptor 2	chr1:109792641-109818372	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]	plasma lipoprotein traits; Coronary Disease; dementia; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Myocardial Infarction; Cholesterol; Coronary Artery Disease; GRN protein, human; Cholesterol, total; 1-Alkyl-2-acetylglycerophosphocholine Esterase; Coronary Artery Disease|; Myocardial Infarction; lipid concentrations; Cardiovascular Diseases; myocardial infarction (early onset); Lipoproteins, LDL; Cholesterol, LDL; Type 2 diabetes; Triglycerides; LDL cholesterol; normal variation; Lipid Metabolism Disorders	Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.		GO:0006355;regulation of transcription, DNA-templated;ISS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;ISS|GO:0021999;neural plate anterior/posterior regionalization;ISS|GO:0022407;regulation of cell-cell adhesion;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CELSR2	https://www.uniprot.org/uniprot/Q9HCU4		https://www.ncbi.nlm.nih.gov/omim/?term=604265	http://www.informatics.jax.org/searchtool/Search.do?query=CELSR2&submit=Quick%0D%8367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR2	rs17035665	0.161142	0	0	1	0	0	intronic	intronic	intronic	CELSR2	CELSR2	ENSG00000143126	Na	Na	Na	Na	Na	Na	Het;C>T	1072;32|47	Hom;C>T	2329;0|82
N	N	-	1	109814880	109814880	C	T	snp	intronic	 	 	 	 	CELSR2	Celsr2	ENSG00000143126	cadherin EGF LAG seven-pass G-type receptor 2	chr1:109792641-109818372	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]	plasma lipoprotein traits; Coronary Disease; dementia; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Myocardial Infarction; Cholesterol; Coronary Artery Disease; GRN protein, human; Cholesterol, total; 1-Alkyl-2-acetylglycerophosphocholine Esterase; Coronary Artery Disease|; Myocardial Infarction; lipid concentrations; Cardiovascular Diseases; myocardial infarction (early onset); Lipoproteins, LDL; Cholesterol, LDL; Type 2 diabetes; Triglycerides; LDL cholesterol; normal variation; Lipid Metabolism Disorders	Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.		GO:0006355;regulation of transcription, DNA-templated;ISS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;ISS|GO:0021999;neural plate anterior/posterior regionalization;ISS|GO:0022407;regulation of cell-cell adhesion;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CELSR2	https://www.uniprot.org/uniprot/Q9HCU4		https://www.ncbi.nlm.nih.gov/omim/?term=604265	http://www.informatics.jax.org/searchtool/Search.do?query=CELSR2&submit=Quick%0D%8367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR2	rs4970834	0.171725	0.2226	0.1750	1	0	0	intronic	intronic	intronic	CELSR2	CELSR2	ENSG00000143126	Na	Na	Na	Na	Na	Na	Het;C>T	913;77|50	Hom;C>T	3302;1|131
N	N	-	1	110680114	110680114	G	A	snp	intergenic	 	 	 	 	UBL4B	Ubl4b	ENSG00000186150	ubiquitin like 4B	chr1:110655062-110656569			 		GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBL4B			https://www.ncbi.nlm.nih.gov/omim/?term=611127	http://www.informatics.jax.org/searchtool/Search.do?query=UBL4B&submit=Quick%0D%15581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBL4B	rs924181	0.321286	0	0	1	0	0	intergenic	intergenic	intergenic	UBL4B(dist=23545),SLC6A17(dist=13018)	UBL4B(dist=23545),SLC6A17(dist=13018)	ENSG00000186150(dist=23545),ENSG00000197106(dist=12994)	Na	Na	Na	Na	Na	Na	Het;G>A	519;14|26	Hom;G>A	706;0|28
N	N	-	1	110682733	110682733	A	T	snp	intergenic	 	 	 	 	UBL4B	Ubl4b	ENSG00000186150	ubiquitin like 4B	chr1:110655062-110656569			 		GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBL4B			https://www.ncbi.nlm.nih.gov/omim/?term=611127	http://www.informatics.jax.org/searchtool/Search.do?query=UBL4B&submit=Quick%0D%15581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBL4B	rs1812950	0.318091	0	0	1	0	0	intergenic	intergenic	intergenic	UBL4B(dist=26164),SLC6A17(dist=10399)	UBL4B(dist=26164),SLC6A17(dist=10399)	ENSG00000186150(dist=26164),ENSG00000197106(dist=10375)	Na	Na	Na	Na	Na	Na	Het;A>T	225;17|12	Hom;A>T	599;0|21
N	N	-	1	110709719	110709719	T	C	snp	synonymous SNV	T168C	D56D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SLC6A17	Slc6a17	ENSG00000197106	solute carrier family 6 member 17	chr1:110693108-110744824	The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0007420;brain development;IEA|GO:0015804;neutral amino acid transport;IEA|GO:0015816;glycine transport;IEA|GO:0015820;leucine transport;IEA|GO:0015824;proline transport;IEA|GO:0032328;alanine transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A17		https://hpo.jax.org/app/browse/search?q=SLC6A17&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610299	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A17&submit=Quick%0D%16544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A17	rs7527375	0.392971	0.5211	0.4656	1	0	0	exonic	exonic	exonic	SLC6A17	SLC6A17	ENSG00000197106	synonymous SNV	synonymous SNV	synonymous SNV	SLC6A17:NM_001010898:exon2:c.T168C:p.D56D,	SLC6A17:uc009wfq.3:exon2:c.T168C:p.D56D,	ENSG00000197106:ENST00000331565:exon2:c.T168C:p.D56D,	Het;T>C	1654;41|43	Hom;T>C	2361;2|55
N	N	-	1	110709720	110709720	G	A	snp	nonsynonymous SNV	G169A	A57T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SLC6A17	Slc6a17	ENSG00000197106	solute carrier family 6 member 17	chr1:110693108-110744824	The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder	 		GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0007420;brain development;IEA|GO:0015804;neutral amino acid transport;IEA|GO:0015816;glycine transport;IEA|GO:0015820;leucine transport;IEA|GO:0015824;proline transport;IEA|GO:0032328;alanine transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A17		https://hpo.jax.org/app/browse/search?q=SLC6A17&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610299	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A17&submit=Quick%0D%16544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A17	rs12737742	0.2502	0.3312	0.3771	0.08	1	13	exonic	exonic	exonic	SLC6A17	SLC6A17	ENSG00000197106	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	SLC6A17:NM_001010898:exon2:c.G169A:p.A57T,	SLC6A17:uc009wfq.3:exon2:c.G169A:p.A57T,	ENSG00000197106:ENST00000331565:exon2:c.G169A:p.A57T,	Het;G>A	1654;41|44	Hom;G>A	2361;2|57
N	N	-	1	110829502	110829502	A	G	snp	ncRNA_exonic	 	 	 	 	LOC440600																		rs3849185	0.388778	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC440600	LOC440600	ENSG00000227963	Na	Na	Na	Na	Na	Na	Het;A>G	1326;41|52	Hom;A>G	3454;0|118
N	N	-	1	111023490	111023490	G	A	snp	ncRNA_intronic	 	 	 	 	CYMP																		rs17680634	0.428914	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CYMP	CYMP	ENSG00000240194	Na	Na	Na	Na	Na	Na	Het;G>A	406;28|23	Hom;G>A	1541;0|57
N	N	-	1	111026570	111026570	T	C	snp	ncRNA_exonic	 	 	 	 	CYMP																		rs12048054	0.6875	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CYMP	CYMP	ENSG00000240194	Na	Na	Na	Na	Na	Na	Het;T>C	1034;48|49	Hom;T>C	2983;0|110
N	N	-	1	111739749	111739749	C	T	snp	intronic	 	 	 	 	DENND2D	Dennd2d	ENSG00000162777	DENN domain containing 2D	chr1:111729796-111747157		Triglycerides	 	RAB GEFs exchange GTP for GDP on RABs	GO:0043547;positive regulation of GTPase activity;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DENND2D			https://www.ncbi.nlm.nih.gov/omim/?term=615111	http://www.informatics.jax.org/searchtool/Search.do?query=DENND2D&submit=Quick%0D%10801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND2D	rs11590991	0.0435304	0.0462	0.0682	1	0	0	intronic	intronic	intronic	DENND2D	DENND2D	ENSG00000162777	Na	Na	Na	Na	Na	Na	Het;C>T	968;45|45	Hom;C>T	2770;1|104
N	N	-	1	111857154	111857154	T	C	snp	intronic	 	 	 	 	CHIA	Chia1	ENSG00000134216	chitinase, acidic	chr1:111833484-111863188	The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis	Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged.	Digestion of dietary carbohydrate	GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA	GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/CHIA	https://www.uniprot.org/uniprot/Q9BZP6		https://www.ncbi.nlm.nih.gov/omim/?term=606080	http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA	rs2786152	0.655751	0.7189	0.6539	1	0	0	intronic	intronic	intronic	CHIA	CHIA	ENSG00000134216	Na	Na	Na	Na	Na	Na	Het;T>C	160;33|10	Hom;T>C	1003;0|37
N	N	-	1	111861714	111861714	T	A	snp	ncRNA_intronic	 	 	 	 	AL356387.1																		rs2786161	0.623602	0.6820	0.6365	1	0	0	intronic	intronic	ncRNA_intronic	CHIA	CHIA	ENSG00000229283	Na	Na	Na	Na	Na	Na	Het;T>A	644;26|29	Hom;T>A	1393;0|47
N	N	-	1	111861841	111861841	A	G	snp	nonsynonymous SNV	A532G	I178V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CHIA	Chia1	ENSG00000134216	chitinase, acidic	chr1:111833484-111863188	The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis	Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged.	Digestion of dietary carbohydrate	GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA	GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/CHIA	https://www.uniprot.org/uniprot/Q9BZP6		https://www.ncbi.nlm.nih.gov/omim/?term=606080	http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA	rs2275253	0.659145	0.7224	0.6554	0.08	1	13	exonic	exonic	exonic	CHIA	CHIA	ENSG00000134216	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CHIA:NM_001258005:exon9:c.A532G:p.I178V,CHIA:NM_001040623:exon8:c.A532G:p.I178V,CHIA:NM_001258004:exon10:c.A532G:p.I178V,CHIA:NM_001258001:exon9:c.A691G:p.I231V,CHIA:NM_001258003:exon8:c.A691G:p.I231V,CHIA:NM_001258002:exon6:c.A532G:p.I178V,CHIA:NM_201653:exon10:c.A1015G:p.I339V,CHIA:NM_021797:exon7:c.A691G:p.I231V,	CHIA:uc001eaq.4:exon9:c.A691G:p.I231V,CHIA:uc001eat.4:exon6:c.A532G:p.I178V,CHIA:uc001eau.4:exon8:c.A532G:p.I178V,CHIA:uc009wgc.4:exon8:c.A691G:p.I231V,CHIA:uc001ear.4:exon7:c.A691G:p.I231V,CHIA:uc009wgd.4:exon9:c.A532G:p.I178V,CHIA:uc001eav.4:exon10:c.A532G:p.I178V,CHIA:uc001eas.4:exon10:c.A1015G:p.I339V,	ENSG00000134216:ENST00000353665:exon8:c.A532G:p.I178V,ENSG00000134216:ENST00000430615:exon8:c.A691G:p.I231V,ENSG00000134216:ENST00000422815:exon7:c.A847G:p.I283V,ENSG00000134216:ENST00000343320:exon9:c.A1015G:p.I339V,ENSG00000134216:ENST00000489524:exon7:c.A532G:p.I178V,ENSG00000134216:ENST00000483391:exon6:c.A532G:p.I178V,ENSG00000134216:ENST00000369740:exon10:c.A1015G:p.I339V,ENSG00000134216:ENST00000451398:exon9:c.A532G:p.I178V,	Het;A>G	1734;91|81	Hom;A>G	4042;0|147
N	N	-	1	111861974	111861974	T	C	snp	nonsynonymous SNV	T578C	F193S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	CHIA	Chia1	ENSG00000134216	chitinase, acidic	chr1:111833484-111863188	The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis	Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged.	Digestion of dietary carbohydrate	GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA	GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/CHIA	https://www.uniprot.org/uniprot/Q9BZP6		https://www.ncbi.nlm.nih.gov/omim/?term=606080	http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA	rs2275254	0.442292	0.4995	0.5082	0.62	8	13	exonic	exonic	exonic	CHIA	CHIA	ENSG00000134216	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CHIA:NM_001258005:exon10:c.T578C:p.F193S,CHIA:NM_001040623:exon9:c.T578C:p.F193S,CHIA:NM_001258004:exon11:c.T578C:p.F193S,CHIA:NM_001258001:exon10:c.T737C:p.F246S,CHIA:NM_001258003:exon9:c.T737C:p.F246S,CHIA:NM_001258002:exon7:c.T578C:p.F193S,CHIA:NM_201653:exon11:c.T1061C:p.F354S,CHIA:NM_021797:exon8:c.T737C:p.F246S,	CHIA:uc001eaq.4:exon10:c.T737C:p.F246S,CHIA:uc001eat.4:exon7:c.T578C:p.F193S,CHIA:uc001eau.4:exon9:c.T578C:p.F193S,CHIA:uc009wgc.4:exon9:c.T737C:p.F246S,CHIA:uc001ear.4:exon8:c.T737C:p.F246S,CHIA:uc009wgd.4:exon10:c.T578C:p.F193S,CHIA:uc001eav.4:exon11:c.T578C:p.F193S,CHIA:uc001eas.4:exon11:c.T1061C:p.F354S,	ENSG00000134216:ENST00000353665:exon9:c.T578C:p.F193S,ENSG00000134216:ENST00000430615:exon9:c.T737C:p.F246S,ENSG00000134216:ENST00000422815:exon8:c.T893C:p.F298S,ENSG00000134216:ENST00000343320:exon10:c.T1061C:p.F354S,ENSG00000134216:ENST00000489524:exon8:c.T578C:p.F193S,ENSG00000134216:ENST00000483391:exon7:c.T578C:p.F193S,ENSG00000134216:ENST00000369740:exon11:c.T1061C:p.F354S,ENSG00000134216:ENST00000451398:exon10:c.T578C:p.F193S,	Het;T>C	1947;80|83	Hom;T>C	4719;0|167
N	N	-	1	111862952	111862952	T	G	snp	nonsynonymous SNV	T812G	V271G	aliphatic,hydrophobic,neutral	aliphatic,neutral	CHIA	Chia1	ENSG00000134216	chitinase, acidic	chr1:111833484-111863188	The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis	Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged.	Digestion of dietary carbohydrate	GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA	GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/CHIA	https://www.uniprot.org/uniprot/Q9BZP6		https://www.ncbi.nlm.nih.gov/omim/?term=606080	http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA	rs2256721	0.657348	0.7207	0.6552	0.08	1	13	exonic	exonic	exonic	CHIA	CHIA	ENSG00000134216	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CHIA:NM_001258005:exon11:c.T812G:p.V271G,CHIA:NM_001040623:exon10:c.T812G:p.V271G,CHIA:NM_001258004:exon12:c.T812G:p.V271G,CHIA:NM_001258001:exon11:c.T971G:p.V324G,CHIA:NM_001258003:exon10:c.T971G:p.V324G,CHIA:NM_001258002:exon8:c.T812G:p.V271G,CHIA:NM_201653:exon12:c.T1295G:p.V432G,CHIA:NM_021797:exon9:c.T971G:p.V324G,	CHIA:uc001eaq.4:exon11:c.T971G:p.V324G,CHIA:uc001eat.4:exon8:c.T812G:p.V271G,CHIA:uc001eau.4:exon10:c.T812G:p.V271G,CHIA:uc009wgc.4:exon10:c.T971G:p.V324G,CHIA:uc001ear.4:exon9:c.T971G:p.V324G,CHIA:uc009wgd.4:exon11:c.T812G:p.V271G,CHIA:uc001eav.4:exon12:c.T812G:p.V271G,CHIA:uc001eas.4:exon12:c.T1295G:p.V432G,	ENSG00000134216:ENST00000353665:exon10:c.T812G:p.V271G,ENSG00000134216:ENST00000430615:exon10:c.T971G:p.V324G,ENSG00000134216:ENST00000422815:exon9:c.T1127G:p.V376G,ENSG00000134216:ENST00000343320:exon11:c.T1295G:p.V432G,ENSG00000134216:ENST00000489524:exon9:c.T812G:p.V271G,ENSG00000134216:ENST00000483391:exon8:c.T812G:p.V271G,ENSG00000134216:ENST00000369740:exon12:c.T1295G:p.V432G,ENSG00000134216:ENST00000451398:exon11:c.T812G:p.V271G,	Het;T>G	1068;47|46	Hom;T>G	1592;0|55
N	N	-	1	112282385	112282385	A	G	snp	intronic	 	 	 	 	FAM212B	Fam212b	ENSG00000197852	family with sequence similarity 212 member B	chr1:112223252-112298446		Carcinoma, Renal Cell|Kidney Neoplasms; Arteries; oral premalignant lesions; monocyte chemoattractant protein 1 (66-77)	 		GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA	GO:0005634;nucleus;IDA	GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/FAM212B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM212B&submit=Quick%0D%16731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM212B	rs61788767	0.0561102	0	0	1	0	0	intronic	intronic	intronic	FAM212B	FAM212B	ENSG00000197852	Na	Na	Na	Na	Na	Na	Het;A>G	204;2|7	Hom;A>G	326;0|10
N	N	-	1	112289983	112289983	C	T	snp	ncRNA_exonic	 	 	 	 	FAM212B-AS1																		rs197374	0.474241	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FAM212B-AS1,LOC101928718	BC041890,LOC100506343	ENSG00000227811	Na	Na	Na	Na	Na	Na	Het;C>T	3317;120|154	Hom;C>T	5393;0|200
N	N	-	1	112298829	112298829	T	C	snp	synonymous SNV	T283C	L95L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DDX20	Ddx20	ENSG00000064703	DEAD-box helicase 20	chr1:112297867-112310638	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]	Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; Arteries; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; monocyte chemoattractant protein 1 (66-77); esophageal cancer 	Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels.	snRNP Assembly	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000244;spliceosomal tri-snRNP complex assembly;TAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008380;RNA splicing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048477;oogenesis;IEA|GO:0050810;regulation of steroid biosynthetic process;IEA|GO:0051170;nuclear import;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IEA|GO:0032797;SMN complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0090571;RNA polymerase II transcription repressor complex;IEA|GO:0097504;Gemini of coiled bodies;IEA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030674;protein binding, bridging;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DDX20	https://www.uniprot.org/uniprot/Q9UHI6		https://www.ncbi.nlm.nih.gov/omim/?term=606168	http://www.informatics.jax.org/searchtool/Search.do?query=DDX20&submit=Quick%0D%1143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX20	rs197393	0.472244	0.3590	0.4487	1	0	0	exonic	exonic	exonic	DDX20	DDX20	ENSG00000064703	synonymous SNV	synonymous SNV	synonymous SNV	DDX20:NM_007204:exon1:c.T283C:p.L95L,	DDX20:uc001ebs.3:exon1:c.T283C:p.L95L,	ENSG00000064703:ENST00000369702:exon1:c.T283C:p.L95L,ENSG00000064703:ENST00000533164:exon2:c.T283C:p.L95L,ENSG00000064703:ENST00000536167:exon1:c.T283C:p.L95L,	Het;T>C	283;5|11	Hom;T>C	527;0|18
N	N	-	1	112302219	112302219	G	A	snp	intronic	 	 	 	 	DDX20	Ddx20	ENSG00000064703	DEAD-box helicase 20	chr1:112297867-112310638	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]	Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; Arteries; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; monocyte chemoattractant protein 1 (66-77); esophageal cancer 	Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels.	snRNP Assembly	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000244;spliceosomal tri-snRNP complex assembly;TAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008380;RNA splicing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048477;oogenesis;IEA|GO:0050810;regulation of steroid biosynthetic process;IEA|GO:0051170;nuclear import;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IEA|GO:0032797;SMN complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0090571;RNA polymerase II transcription repressor complex;IEA|GO:0097504;Gemini of coiled bodies;IEA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030674;protein binding, bridging;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DDX20	https://www.uniprot.org/uniprot/Q9UHI6		https://www.ncbi.nlm.nih.gov/omim/?term=606168	http://www.informatics.jax.org/searchtool/Search.do?query=DDX20&submit=Quick%0D%1143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX20	rs538779	0.187899	0.1806	0.2145	1	0	0	intronic	intronic	intronic	DDX20	DDX20	ENSG00000064703	Na	Na	Na	Na	Na	Na	Het;G>A	467;32|19	Hom;G>A	1704;0|56
N	N	-	1	112308953	112308953	T	C	snp	nonsynonymous SNV	T1907C	I636T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	DDX20	Ddx20	ENSG00000064703	DEAD-box helicase 20	chr1:112297867-112310638	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]	Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; Arteries; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; monocyte chemoattractant protein 1 (66-77); esophageal cancer 	Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels.	snRNP Assembly	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000244;spliceosomal tri-snRNP complex assembly;TAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008380;RNA splicing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048477;oogenesis;IEA|GO:0050810;regulation of steroid biosynthetic process;IEA|GO:0051170;nuclear import;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IEA|GO:0032797;SMN complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0090571;RNA polymerase II transcription repressor complex;IEA|GO:0097504;Gemini of coiled bodies;IEA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030674;protein binding, bridging;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DDX20	https://www.uniprot.org/uniprot/Q9UHI6		https://www.ncbi.nlm.nih.gov/omim/?term=606168	http://www.informatics.jax.org/searchtool/Search.do?query=DDX20&submit=Quick%0D%1143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX20	rs197412	0.474441	0.4840	0.4271	0.15	2	13	exonic	exonic	exonic	DDX20	DDX20	ENSG00000064703	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	DDX20:NM_007204:exon11:c.T1907C:p.I636T,	DDX20:uc010owf.2:exon10:c.T1193C:p.I398T,DDX20:uc001ebt.3:exon3:c.T731C:p.I244T,DDX20:uc001ebs.3:exon11:c.T1907C:p.I636T,	ENSG00000064703:ENST00000369702:exon11:c.T1907C:p.I636T,ENSG00000064703:ENST00000475700:exon3:c.T731C:p.I244T,	Het;T>C	1043;59|46	Hom;T>C	2272;0|78
N	N	-	1	112308972	112308972	G	A	snp	synonymous SNV	G1212A	V404V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DDX20	Ddx20	ENSG00000064703	DEAD-box helicase 20	chr1:112297867-112310638	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]	Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; Arteries; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; monocyte chemoattractant protein 1 (66-77); esophageal cancer 	Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels.	snRNP Assembly	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000244;spliceosomal tri-snRNP complex assembly;TAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008380;RNA splicing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048477;oogenesis;IEA|GO:0050810;regulation of steroid biosynthetic process;IEA|GO:0051170;nuclear import;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IEA|GO:0032797;SMN complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0090571;RNA polymerase II transcription repressor complex;IEA|GO:0097504;Gemini of coiled bodies;IEA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030674;protein binding, bridging;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DDX20	https://www.uniprot.org/uniprot/Q9UHI6		https://www.ncbi.nlm.nih.gov/omim/?term=606168	http://www.informatics.jax.org/searchtool/Search.do?query=DDX20&submit=Quick%0D%1143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX20	rs197413	0.479832	0.4875	0.4274	1	0	0	exonic	exonic	exonic	DDX20	DDX20	ENSG00000064703	synonymous SNV	synonymous SNV	synonymous SNV	DDX20:NM_007204:exon11:c.G1926A:p.V642V,	DDX20:uc010owf.2:exon10:c.G1212A:p.V404V,DDX20:uc001ebt.3:exon3:c.G750A:p.V250V,DDX20:uc001ebs.3:exon11:c.G1926A:p.V642V,	ENSG00000064703:ENST00000369702:exon11:c.G1926A:p.V642V,ENSG00000064703:ENST00000475700:exon3:c.G750A:p.V250V,	Het;G>A	867;60|44	Hom;G>A	2278;0|86
N	N	-	1	112589183	112589183	A	G	snp	intergenic	 	 	 	 	LINC01750																		rs2587860	0.821286	0	0	1	0	0	intergenic	intergenic	intergenic	LOC643355(dist=47720),CTTNBP2NL(dist=349617)	LOC643355(dist=47720),SnoU13(dist=324443)	ENSG00000231437(dist=47719),ENSG00000231246(dist=130673)	Na	Na	Na	Na	Na	Na	Het;A>G	121;6|7	Hom;A>G	433;0|17
N	N	-	1	113202417	113202417	G	A	snp	intronic	 	 	 	 	CAPZA1	Capza1	ENSG00000116489	capping actin protein of muscle Z-line alpha subunit 1	chr1:113161795-113214241	CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein.  The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]	Blood Pressure	 	Factors involved in megakaryocyte development and platelet production	GO:0006461;protein complex assembly;TAS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007596;blood coagulation;TAS|GO:0045087;innate immune response;TAS|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008290;F-actin capping protein complex;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0070062;extracellular exosome;IDA|GO:0071203;WASH complex;IDA	GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CAPZA1	https://www.uniprot.org/uniprot/P52907		https://www.ncbi.nlm.nih.gov/omim/?term=601580	http://www.informatics.jax.org/searchtool/Search.do?query=CAPZA1&submit=Quick%0D%4745ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPZA1	rs2932536	0.521965	0.5253	0.5246	1	0	0	intronic	intronic	intronic	CAPZA1	CAPZA1	ENSG00000116489	Na	Na	Na	Na	Na	Na	Het;G>A	669;34|36	Hom;G>A	2207;0|86
N	N	-	1	113234456	113234456	G	A	snp	intronic	 	 	 	 	MOV10	Mov10	ENSG00000155363	Mov10 RISC complex RNA helicase	chr1:113215763-113243368		Hypertension; Blood Pressure	Homozygous knockout is embryonic lethal. Heterozygous knockout leads to reduced dendritic branching of neurons, which affects anxiety- and/or activity-related behavior.	Competing endogenous RNAs (ceRNAs) regulate PTEN translation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0031047;gene silencing by RNA;IEA|GO:0035195;gene silencing by miRNA;IMP|GO:0035279;mRNA cleavage involved in gene silencing by miRNA;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS	GO:0000932;P-body;IDA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOV10	https://www.uniprot.org/uniprot/Q9HCE1		https://www.ncbi.nlm.nih.gov/omim/?term=610742	http://www.informatics.jax.org/searchtool/Search.do?query=MOV10&submit=Quick%0D%9863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOV10	rs2932532	0.519569	0.5230	0.5107	1	0	0	intronic	intronic	intronic	MOV10	MOV10	ENSG00000155363	Na	Na	Na	Na	Na	Na	Het;G>A	808;67|43	Hom;G>A	2282;0|83
N	N	-	1	113239478	113239478	T	C	snp	intronic	 	 	 	 	MOV10	Mov10	ENSG00000155363	Mov10 RISC complex RNA helicase	chr1:113215763-113243368		Hypertension; Blood Pressure	Homozygous knockout is embryonic lethal. Heterozygous knockout leads to reduced dendritic branching of neurons, which affects anxiety- and/or activity-related behavior.	Competing endogenous RNAs (ceRNAs) regulate PTEN translation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0031047;gene silencing by RNA;IEA|GO:0035195;gene silencing by miRNA;IMP|GO:0035279;mRNA cleavage involved in gene silencing by miRNA;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS	GO:0000932;P-body;IDA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOV10	https://www.uniprot.org/uniprot/Q9HCE1		https://www.ncbi.nlm.nih.gov/omim/?term=610742	http://www.informatics.jax.org/searchtool/Search.do?query=MOV10&submit=Quick%0D%9863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOV10	rs2999158	0.80631	0.7291	0.7382	1	0	0	intronic	intronic	intronic	MOV10	MOV10	ENSG00000155363	Na	Na	Na	Na	Na	Na	Het;T>C	1062;64|52	Hom;T>C	2904;0|103
N	N	-	1	113242488	113242488	C	T	snp	intronic	 	 	 	 	MOV10	Mov10	ENSG00000155363	Mov10 RISC complex RNA helicase	chr1:113215763-113243368		Hypertension; Blood Pressure	Homozygous knockout is embryonic lethal. Heterozygous knockout leads to reduced dendritic branching of neurons, which affects anxiety- and/or activity-related behavior.	Competing endogenous RNAs (ceRNAs) regulate PTEN translation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0031047;gene silencing by RNA;IEA|GO:0035195;gene silencing by miRNA;IMP|GO:0035279;mRNA cleavage involved in gene silencing by miRNA;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS	GO:0000932;P-body;IDA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOV10	https://www.uniprot.org/uniprot/Q9HCE1		https://www.ncbi.nlm.nih.gov/omim/?term=610742	http://www.informatics.jax.org/searchtool/Search.do?query=MOV10&submit=Quick%0D%9863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOV10	rs3013431	0.545727	0.5824	0.5664	1	0	0	intronic	intronic	intronic	MOV10	MOV10	ENSG00000155363	Na	Na	Na	Na	Na	Na	Het;C>T	1663;75|77	Hom;C>T	2712;0|96
N	N	-	1	113465883	113465883	G	GTGAGCCGAGAT	indel	intronic	 	 	 	 	SLC16A1	Slc16a1	ENSG00000281917	solute carrier family 16 member 1	chr1:113454469-113499635	The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]	Chronic renal failure|Kidney Failure, Chronic; normal variation; Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone	Homozygotes are non-viable, while heterozygous animals are resistant to diet-induced obesity.	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006810;transport;IEA|GO:0007098;centrosome cycle;IMP|GO:0015718;monocarboxylic acid transport;TAS|GO:0015728;mevalonate transport;TAS|GO:0035873;lactate transmembrane transport;IEA|GO:0035879;plasma membrane lactate transport;ISS|GO:0050900;leukocyte migration;TAS|GO:0055085;transmembrane transport;IEA	GO:0005813;centrosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;EXP|GO:0015130;mevalonate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A1	https://www.uniprot.org/uniprot/P53985	https://hpo.jax.org/app/browse/search?q=SLC16A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600682	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A1&submit=Quick%0D%22351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A1	rs11273193	0.791334	0	0	1	0	0	intronic	intronic	intronic	SLC16A1	SLC16A1	ENSG00000155380	Na	Na	Na	Na	Na	Na	Het;+TGAGCCGAGAT	191;8|4	Hom;+TGAGCCGAGAT	682;0|11
N	N	-	1	114469503	114469503	A	G	snp	ncRNA_exonic	 	 	 	 	HIPK1-AS1																		rs2147079	0.793131	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HIPK1-AS1	BC036361	ENSG00000235527	Na	Na	Na	Na	Na	Na	Het;A>G	620;20|25	Hom;A>G	1316;0|46
N	N	-	1	114469583	114469583	C	T	snp	ncRNA_exonic	 	 	 	 	HIPK1-AS1																		rs1985435	0.191294	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HIPK1-AS1	BC036361	ENSG00000235527	Na	Na	Na	Na	Na	Na	Het;C>T	160;3|6	Hom;C>T	255;0|8
N	N	-	1	114469597	114469597	C	T	snp	ncRNA_exonic	 	 	 	 	HIPK1-AS1																		rs1985436	0.170128	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HIPK1-AS1	BC036361	ENSG00000235527	Na	Na	Na	Na	Na	Na	Het;C>T	93;3|4	Hom;C>T	147;0|5
N	N	-	1	114469942	114469942	A	C	snp	ncRNA_exonic	 	 	 	 	HIPK1-AS1																		rs1553449	0.16873	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HIPK1-AS1	BC036361	ENSG00000235527	Na	Na	Na	Na	Na	Na	Het;A>C	1094;30|48	Hom;A>C	2260;0|86
N	N	-	1	114471189	114471189	C	T	snp	ncRNA_exonic	 	 	 	 	HIPK1-AS1																		rs1000528	0.786941	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	HIPK1-AS1	BC048113	ENSG00000235527	Na	Na	Na	Na	Na	Na	Het;C>T	31;2|2	Hom;C>T	184;0|6
N	N	-	1	114504860	114504860	G	A	snp	intronic	 	 	 	 	HIPK1	Hipk1	ENSG00000163349	homeodomain interacting protein kinase 1	chr1:114471814-114520426	The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]		Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.	Regulation of TP53 Activity through Phosphorylation	GO:0001654;eye development;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;IDA|GO:0010842;retina layer formation;IEA|GO:0016310;phosphorylation;IEA|GO:0030182;neuron differentiation;IEA|GO:0034333;adherens junction assembly;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0045766;positive regulation of angiogenesis;ISS|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:0060216;definitive hemopoiesis;ISS|GO:0060235;lens induction in camera-type eye;IEA|GO:0061072;iris morphogenesis;IEA|GO:0072577;endothelial cell apoptotic process;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IEA|GO:0016607;nuclear speck;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIPK1			https://www.ncbi.nlm.nih.gov/omim/?term=608003	http://www.informatics.jax.org/searchtool/Search.do?query=HIPK1&submit=Quick%0D%10940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIPK1	rs41302825	0.251398	0	0	1	0	0	intronic	intronic	intronic	HIPK1	HIPK1	ENSG00000163349	Na	Na	Na	Na	Na	Na	Het;G>A	125;10|6	Hom;G>A	704;0|22
N	N	-	1	114505000	114505000	G	A	snp	synonymous SNV	G2043A	P681P	hydrophobic,neutral	hydrophobic,neutral	HIPK1	Hipk1	ENSG00000163349	homeodomain interacting protein kinase 1	chr1:114471814-114520426	The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]		Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.	Regulation of TP53 Activity through Phosphorylation	GO:0001654;eye development;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;IDA|GO:0010842;retina layer formation;IEA|GO:0016310;phosphorylation;IEA|GO:0030182;neuron differentiation;IEA|GO:0034333;adherens junction assembly;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0045766;positive regulation of angiogenesis;ISS|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:0060216;definitive hemopoiesis;ISS|GO:0060235;lens induction in camera-type eye;IEA|GO:0061072;iris morphogenesis;IEA|GO:0072577;endothelial cell apoptotic process;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IEA|GO:0016607;nuclear speck;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIPK1			https://www.ncbi.nlm.nih.gov/omim/?term=608003	http://www.informatics.jax.org/searchtool/Search.do?query=HIPK1&submit=Quick%0D%10940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIPK1	rs17852555	0.23742	0.2706	0.2498	1	0	0	exonic	exonic	exonic	HIPK1	HIPK1	ENSG00000163349	synonymous SNV	synonymous SNV	synonymous SNV	HIPK1:NM_181358:exon7:c.G861A:p.P287P,HIPK1:NM_152696:exon9:c.G2043A:p.P681P,HIPK1:NM_198268:exon9:c.G2043A:p.P681P,HIPK1:NM_198269:exon8:c.G921A:p.P307P,	HIPK1:uc001eel.3:exon9:c.G2043A:p.P681P,HIPK1:uc001eeo.3:exon8:c.G921A:p.P307P,HIPK1:uc001een.3:exon9:c.G2043A:p.P681P,HIPK1:uc001eem.3:exon9:c.G2043A:p.P681P,HIPK1:uc001eep.3:exon7:c.G861A:p.P287P,	ENSG00000163349:ENST00000369555:exon9:c.G2043A:p.P681P,ENSG00000163349:ENST00000406344:exon6:c.G861A:p.P287P,ENSG00000163349:ENST00000369561:exon9:c.G1941A:p.P647P,ENSG00000163349:ENST00000369559:exon9:c.G2043A:p.P681P,ENSG00000163349:ENST00000369553:exon7:c.G861A:p.P287P,ENSG00000163349:ENST00000426820:exon9:c.G2043A:p.P681P,ENSG00000163349:ENST00000369554:exon9:c.G2043A:p.P681P,ENSG00000163349:ENST00000340480:exon8:c.G921A:p.P307P,ENSG00000163349:ENST00000369558:exon9:c.G2043A:p.P681P,	Het;G>A	1941;113|97	Hom;G>A	5792;0|217
N	N	-	1	114512939	114512939	A	T	snp	intronic	 	 	 	 	HIPK1	Hipk1	ENSG00000163349	homeodomain interacting protein kinase 1	chr1:114471814-114520426	The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]		Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.	Regulation of TP53 Activity through Phosphorylation	GO:0001654;eye development;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;IDA|GO:0010842;retina layer formation;IEA|GO:0016310;phosphorylation;IEA|GO:0030182;neuron differentiation;IEA|GO:0034333;adherens junction assembly;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0045766;positive regulation of angiogenesis;ISS|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:0060216;definitive hemopoiesis;ISS|GO:0060235;lens induction in camera-type eye;IEA|GO:0061072;iris morphogenesis;IEA|GO:0072577;endothelial cell apoptotic process;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IEA|GO:0016607;nuclear speck;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIPK1			https://www.ncbi.nlm.nih.gov/omim/?term=608003	http://www.informatics.jax.org/searchtool/Search.do?query=HIPK1&submit=Quick%0D%10940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIPK1	rs3811018	0.788738	0	0	1	0	0	intronic	intronic	intronic	HIPK1	HIPK1	ENSG00000163349	Na	Na	Na	Na	Na	Na	Het;A>T	82;8|4	Hom;A>T	514;0|15
N	N	-	1	11505114	11505114	C	T	snp	intergenic	 	 	 	 	MTCYBP45																		rs12046980	0.351238	0	0	1	0	0	intergenic	intergenic	intergenic	UBIAD1(dist=156623),PTCHD2(dist=34181)	UBIAD1(dist=156623),PTCHD2(dist=34181)	ENSG00000224338(dist=19236),ENSG00000204624(dist=34181)	Na	Na	Na	Na	Na	Na	Het;C>T	77;5|4	Hom;C>T	316;0|12
N	N	-	1	116224925	116224925	G	A	snp	intronic	 	 	 	 	VANGL1	Vangl1	ENSG00000173218	VANGL planar cell polarity protein 1	chr1:116184574-116240845	This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]	neural tube defects ; Chronic renal failure|Kidney Failure, Chronic; Myocardial Infarction; Cell Adhesion Molecules	Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities.		GO:0007275;multicellular organism development;IEA|GO:0043473;pigmentation;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VANGL1		https://hpo.jax.org/app/browse/search?q=VANGL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610132	http://www.informatics.jax.org/searchtool/Search.do?query=VANGL1&submit=Quick%0D%13314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VANGL1	rs10923176	0.677915	0	0	1	0	0	intronic	intronic	intronic	VANGL1	VANGL1	ENSG00000173218	Na	Na	Na	Na	Na	Na	Het;G>A	395;12|18	Hom;G>A	990;0|36
N	N	-	1	116224940	116224940	C	A	snp	intronic	 	 	 	 	VANGL1	Vangl1	ENSG00000173218	VANGL planar cell polarity protein 1	chr1:116184574-116240845	This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]	neural tube defects ; Chronic renal failure|Kidney Failure, Chronic; Myocardial Infarction; Cell Adhesion Molecules	Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities.		GO:0007275;multicellular organism development;IEA|GO:0043473;pigmentation;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VANGL1		https://hpo.jax.org/app/browse/search?q=VANGL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610132	http://www.informatics.jax.org/searchtool/Search.do?query=VANGL1&submit=Quick%0D%13314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VANGL1	rs10754330	0.678315	0.6343	0.6803	1	0	0	intronic	intronic	intronic	VANGL1	VANGL1	ENSG00000173218	Na	Na	Na	Na	Na	Na	Het;C>A	558;15|25	Hom;C>A	1259;0|47
N	N	-	1	116225180	116225180	A	C	snp	intronic	 	 	 	 	VANGL1	Vangl1	ENSG00000173218	VANGL planar cell polarity protein 1	chr1:116184574-116240845	This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]	neural tube defects ; Chronic renal failure|Kidney Failure, Chronic; Myocardial Infarction; Cell Adhesion Molecules	Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities.		GO:0007275;multicellular organism development;IEA|GO:0043473;pigmentation;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VANGL1		https://hpo.jax.org/app/browse/search?q=VANGL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610132	http://www.informatics.jax.org/searchtool/Search.do?query=VANGL1&submit=Quick%0D%13314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VANGL1	rs10923177	0.680511	0	0	1	0	0	intronic	intronic	intronic	VANGL1	VANGL1	ENSG00000173218	Na	Na	Na	Na	Na	Na	Het;A>C	404;28|18	Hom;A>C	1607;0|49
N	N	-	1	116226459	116226459	C	T	snp	intronic	 	 	 	 	VANGL1	Vangl1	ENSG00000173218	VANGL planar cell polarity protein 1	chr1:116184574-116240845	This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]	neural tube defects ; Chronic renal failure|Kidney Failure, Chronic; Myocardial Infarction; Cell Adhesion Molecules	Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities.		GO:0007275;multicellular organism development;IEA|GO:0043473;pigmentation;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VANGL1		https://hpo.jax.org/app/browse/search?q=VANGL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610132	http://www.informatics.jax.org/searchtool/Search.do?query=VANGL1&submit=Quick%0D%13314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VANGL1	rs12144356	0.696286	0	0	1	0	0	intronic	intronic	intronic	VANGL1	VANGL1	ENSG00000173218	Na	Na	Na	Na	Na	Na	Het;C>T	259;6|10	Hom;C>T	192;0|6
N	N	-	1	116228220	116228220	C	T	snp	intronic	 	 	 	 	VANGL1	Vangl1	ENSG00000173218	VANGL planar cell polarity protein 1	chr1:116184574-116240845	This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]	neural tube defects ; Chronic renal failure|Kidney Failure, Chronic; Myocardial Infarction; Cell Adhesion Molecules	Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities.		GO:0007275;multicellular organism development;IEA|GO:0043473;pigmentation;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VANGL1		https://hpo.jax.org/app/browse/search?q=VANGL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610132	http://www.informatics.jax.org/searchtool/Search.do?query=VANGL1&submit=Quick%0D%13314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VANGL1	rs12145661	0.594649	0	0	1	0	0	intronic	intronic	intronic	VANGL1	VANGL1	ENSG00000173218	Na	Na	Na	Na	Na	Na	Het;C>T	356;17|16	Hom;C>T	951;0|32
N	N	-	1	117142531	117142531	G	A	snp	intronic	 	 	 	 	IGSF3	Igsf3	ENSG00000143061	immunoglobulin superfamily member 3	chr1:117117031-117210375	The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]	Lacrimal duct defect	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0032808;lacrimal gland development;IMP	GO:0005886;plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/IGSF3	https://www.uniprot.org/uniprot/O75054	https://hpo.jax.org/app/browse/search?q=IGSF3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603491	http://www.informatics.jax.org/searchtool/Search.do?query=IGSF3&submit=Quick%0D%8357ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF3	rs631461	0.691094	0.6242	0.6012	1	0	0	intronic	intronic	intronic	IGSF3	IGSF3	ENSG00000143061	Na	Na	Na	Na	Na	Na	Het;G>A	692;50|33	Hom;G>A	1686;4|61
N	N	-	1	117690272	117690272	G	A	snp	UTR3	*8C>T	 	 	 	VTCN1	Vtcn1	ENSG00000134258	V-set domain containing T-cell activation inhibitor 1	chr1:117686209-117753556	This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Hip; Arthritis, Juvenile Rheumatoid; breast cancer ; Blood Pressure; Arthritis (juvenile idiopathic)	Mice homozygous for this mutation display stronger Th1 responses upon parasitic infection by L. major including reduced footpad swelling and lower parasite burden compared to controls. Responses to other Th1-driven immune responses are normal.		GO:0001562;response to protozoan;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:1900042;positive regulation of interleukin-2 secretion;IEA	GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VTCN1	https://www.uniprot.org/uniprot/Q7Z7D3		https://www.ncbi.nlm.nih.gov/omim/?term=608162	http://www.informatics.jax.org/searchtool/Search.do?query=VTCN1&submit=Quick%0D%6944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VTCN1	rs10754339	0.734625	0.7513	0.8725	1	0	0	UTR3	UTR3	UTR3	VTCN1(NM_001253849:c.*8C>T,NM_024626:c.*8C>T,NM_001253850:c.*8C>T)	VTCN1(uc021osn.1:c.*8C>T,uc001ehb.3:c.*8C>T,uc001ehc.3:c.*8C>T,uc009whf.2:c.*8C>T)	ENSG00000134258(ENST00000328189:c.*8C>T,ENST00000369458:c.*8C>T,ENST00000359008:c.*8C>T,ENST00000539893:c.*8C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	567;38|32	Hom;G>A	1231;0|48
N	N	-	1	11824303	11824303	T	C	snp	intronic	 	 	 	 	C1orf167	 	ENSG00000215910	chromosome 1 open reading frame 167	chr1:11821844-11849642		Chronic renal failure|Kidney Failure, Chronic; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke	 					http://www.genecards.org/index.php?path=/Search/keyword/C1orf167				http://www.informatics.jax.org/searchtool/Search.do?query=C1orf167&submit=Quick%0D%18365ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf167	rs4845877	0.591653	0	0	1	0	0	intronic	intergenic	intronic	C1orf167	AGTRAP(dist=13475),C1orf167(dist=7836)	ENSG00000215910	Na	Na	Na	Na	Na	Na	Het;T>C	155;3|6	Hom;T>C	89;0|3
N	N	-	1	11824346	11824346	G	A	snp	intronic	 	 	 	 	C1orf167	 	ENSG00000215910	chromosome 1 open reading frame 167	chr1:11821844-11849642		Chronic renal failure|Kidney Failure, Chronic; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke	 					http://www.genecards.org/index.php?path=/Search/keyword/C1orf167				http://www.informatics.jax.org/searchtool/Search.do?query=C1orf167&submit=Quick%0D%18365ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf167	rs4845878	0.582468	0	0.4906	1	0	0	intronic	intergenic	intronic	C1orf167	AGTRAP(dist=13518),C1orf167(dist=7793)	ENSG00000215910	Na	Na	Na	Na	Na	Na	Het;G>A	126;7|7	Hom;G>A	135;0|6
N	N	-	1	11851003	11851003	G	C	snp	intronic	 	 	 	 	MTHFR	Mthfr	ENSG00000177000	methylenetetrahydrofolate reductase	chr1:11845780-11866977	The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]		Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate.	Metabolism of folate and pterines	GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA|GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA	GO:0005829;cytosol;TAS|GO:0045202;synapse;IEA	GO:0003824;catalytic activity;IEA|GO:0004489;methylenetetrahydrofolate reductase (NAD(P)H) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0032403;protein complex binding;IPI|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0050661;NADP binding;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MTHFR	https://www.uniprot.org/uniprot/P42898	https://hpo.jax.org/app/browse/search?q=MTHFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607093	http://www.informatics.jax.org/searchtool/Search.do?query=MTHFR&submit=Quick%0D%228ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFR	rs3818762	0.246006	0.2298	0.2544	1	0	0	intronic	intronic	intronic	MTHFR	MTHFR	ENSG00000177000	Na	Na	Na	Na	Na	Na	Het;G>C	678;52|33	Hom;G>C	1848;3|71
N	N	-	1	11854476	11854476	T	G	snp	nonsynonymous SNV	A1286C	E429A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	MTHFR	Mthfr	ENSG00000177000	methylenetetrahydrofolate reductase	chr1:11845780-11866977	The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]		Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate.	Metabolism of folate and pterines	GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA|GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA	GO:0005829;cytosol;TAS|GO:0045202;synapse;IEA	GO:0003824;catalytic activity;IEA|GO:0004489;methylenetetrahydrofolate reductase (NAD(P)H) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0032403;protein complex binding;IPI|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0050661;NADP binding;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MTHFR	https://www.uniprot.org/uniprot/P42898	https://hpo.jax.org/app/browse/search?q=MTHFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607093	http://www.informatics.jax.org/searchtool/Search.do?query=MTHFR&submit=Quick%0D%228ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFR	rs1801131	0.249401	0.2596	0.2950	0.54	7	13	exonic	exonic	exonic	MTHFR	MTHFR	ENSG00000177000	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MTHFR:NM_005957:exon8:c.A1286C:p.E429A,	MTHFR:uc001atc.2:exon8:c.A1286C:p.E429A,MTHFR:uc001atb.1:exon7:c.A1355C:p.E452A,MTHFR:uc031plg.1:exon4:c.A551C:p.E184A,	ENSG00000177000:ENST00000376583:exon8:c.A1409C:p.E470A,ENSG00000177000:ENST00000376585:exon9:c.A1409C:p.E470A,ENSG00000177000:ENST00000376592:exon7:c.A1286C:p.E429A,ENSG00000177000:ENST00000376590:exon8:c.A1286C:p.E429A,	Het;T>G	514;58|29	Hom;T>G	2647;0|64
N	N	-	1	11854671	11854671	C	A	snp	intronic	 	 	 	 	MTHFR	Mthfr	ENSG00000177000	methylenetetrahydrofolate reductase	chr1:11845780-11866977	The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]		Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate.	Metabolism of folate and pterines	GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA|GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA	GO:0005829;cytosol;TAS|GO:0045202;synapse;IEA	GO:0003824;catalytic activity;IEA|GO:0004489;methylenetetrahydrofolate reductase (NAD(P)H) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0032403;protein complex binding;IPI|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0050661;NADP binding;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MTHFR	https://www.uniprot.org/uniprot/P42898	https://hpo.jax.org/app/browse/search?q=MTHFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607093	http://www.informatics.jax.org/searchtool/Search.do?query=MTHFR&submit=Quick%0D%228ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFR	rs12121543	0	0	0	1	0	0	intronic	intronic	intronic	MTHFR	MTHFR	ENSG00000177000	Na	Na	Na	Na	Na	Na	Het;C>A	174;11|8	Hom;C>A	345;0|12
N	N	-	1	119923724	119923724	T	C	snp	synonymous SNV	T16C	L6L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HAO2	Hao2	ENSG00000116882	hydroxyacid oxidase 2	chr1:119911402-119936753	This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Stroke; Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer	Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus.	Peroxisomal lipid metabolism	GO:0009062;fatty acid catabolic process;TAS|GO:0019395;fatty acid oxidation;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0010181;FMN binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;TAS|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO2	https://www.uniprot.org/uniprot/Q9NYQ3		https://www.ncbi.nlm.nih.gov/omim/?term=605176	http://www.informatics.jax.org/searchtool/Search.do?query=HAO2&submit=Quick%0D%4806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO2	rs2275607	0.358227	0.4047	0.4834	1	0	0	exonic	exonic	exonic	HAO2	HAO2	ENSG00000116882	synonymous SNV	synonymous SNV	synonymous SNV	HAO2:NM_001005783:exon3:c.T55C:p.L19L,HAO2:NM_016527:exon2:c.T16C:p.L6L,	HAO2:uc001ehq.1:exon3:c.T16C:p.L6L,HAO2:uc001ehr.1:exon2:c.T16C:p.L6L,	ENSG00000116882:ENST00000457318:exon2:c.T16C:p.L6L,ENSG00000116882:ENST00000325945:exon2:c.T16C:p.L6L,ENSG00000116882:ENST00000361035:exon3:c.T55C:p.L19L,	Het;T>C	1426;128|70	Hom;T>C	4779;0|169
N	N	-	1	119925403	119925403	C	T	snp	intronic	 	 	 	 	HAO2	Hao2	ENSG00000116882	hydroxyacid oxidase 2	chr1:119911402-119936753	This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Stroke; Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer	Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus.	Peroxisomal lipid metabolism	GO:0009062;fatty acid catabolic process;TAS|GO:0019395;fatty acid oxidation;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0010181;FMN binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;TAS|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO2	https://www.uniprot.org/uniprot/Q9NYQ3		https://www.ncbi.nlm.nih.gov/omim/?term=605176	http://www.informatics.jax.org/searchtool/Search.do?query=HAO2&submit=Quick%0D%4806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO2	rs1341007	0.355631	0	0	1	0	0	intronic	intronic	intronic	HAO2	HAO2	ENSG00000116882	Na	Na	Na	Na	Na	Na	Het;C>T	97;2|4	Hom;C>T	242;0|9
N	N	-	1	119925464	119925464	G	A	snp	intronic	 	 	 	 	HAO2	Hao2	ENSG00000116882	hydroxyacid oxidase 2	chr1:119911402-119936753	This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Stroke; Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer	Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus.	Peroxisomal lipid metabolism	GO:0009062;fatty acid catabolic process;TAS|GO:0019395;fatty acid oxidation;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0010181;FMN binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;TAS|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO2	https://www.uniprot.org/uniprot/Q9NYQ3		https://www.ncbi.nlm.nih.gov/omim/?term=605176	http://www.informatics.jax.org/searchtool/Search.do?query=HAO2&submit=Quick%0D%4806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO2	rs2298027	0.35603	0	0	1	0	0	intronic	intronic	intronic	HAO2	HAO2	ENSG00000116882	Na	Na	Na	Na	Na	Na	Het;G>A	294;9|13	Hom;G>A	552;0|19
N	N	-	1	119955781	119955781	G	A	snp	intergenic	 	 	 	 	HAO2	Hao2	ENSG00000116882	hydroxyacid oxidase 2	chr1:119911402-119936753	This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Stroke; Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer	Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus.	Peroxisomal lipid metabolism	GO:0009062;fatty acid catabolic process;TAS|GO:0019395;fatty acid oxidation;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0010181;FMN binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;TAS|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO2	https://www.uniprot.org/uniprot/Q9NYQ3		https://www.ncbi.nlm.nih.gov/omim/?term=605176	http://www.informatics.jax.org/searchtool/Search.do?query=HAO2&submit=Quick%0D%4806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO2	rs33963971	0.0353435	0	0	1	0	0	intergenic	intergenic	intergenic	HAO2(dist=19028),HSD3B2(dist=1773)	HAO2(dist=19030),HSD3B2(dist=1489)	ENSG00000116882(dist=19028),ENSG00000203859(dist=1773)	Na	Na	Na	Na	Na	Na	Het;G>A	305;14|15	Hom;G>A	848;0|28
N	N	-	1	119977703	119977703	C	T	snp	ncRNA_exonic	 	 	 	 	GAPDHP74																		rs7540738	0.363818	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	HSD3B2(dist=12041),HSD3B1(dist=72123)	HSD3B2	ENSG00000232780	Na	Na	Na	Na	Na	Na	Het;C>T	47;4|4	Hom;C>T	140;0|6
N	N	-	1	119985689	119985689	A	G	snp	nonsynonymous SNV	A496G	K166E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	HSD3B2	Hsd3b1	ENSG00000203859	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	chr1:119957554-119965658	The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]	chronic obstructive pulmonary disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; esophageal adenocarcinoma; prostate cancer; hypospadias; thyroid cancer; Lymphoma, Non-Hodgkin; body mass; Bone Mineral Density; breast cancer|prostate cancer; menarche menopause; bladder cancer; hyperandrogenism; premature pubarche; hypertension; hereditary and sporadic prostate cancer susceptibility.; precocious puberty; lung cancer ; hirsutism; pubarche; Type 2 Diabetes| edema | rosiglitazone; lung cancer	 	Glucocorticoid biosynthesis	GO:0006694;steroid biosynthetic process;IEA|GO:0006702;androgen biosynthetic process;TAS|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;ISS|GO:0005758;mitochondrial intermembrane space;ISS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030868;smooth endoplasmic reticulum membrane;ISS|GO:0031966;mitochondrial membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0003854;3-beta-hydroxy-delta5-steroid dehydrogenase activity;IEA|GO:0004769;steroid delta-isomerase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSD3B2		https://hpo.jax.org/app/browse/search?q=HSD3B2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613890	http://www.informatics.jax.org/searchtool/Search.do?query=HSD3B2&submit=Quick%0D%17154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD3B2	rs34576800	0.0177716	0	0.0202	1	0	0	intergenic	exonic	ncRNA_exonic	HSD3B2(dist=20027),HSD3B1(dist=64137)	HSD3B2	ENSG00000203858	Na	nonsynonymous SNV	Na	Na	HSD3B2:uc001ehu.3:exon4:c.A496G:p.K166E,	Na	Het;A>G	150;10|8	Hom;A>G	493;0|19
N	N	-	1	119988071	119988071	C	T	snp	ncRNA_exonic	 	 	 	 	HSD3BP2																		rs10802094	0.363019	0	0	1	0	0	intergenic	UTR3	ncRNA_exonic	HSD3B2(dist=22409),HSD3B1(dist=61755)	HSD3B2(uc001ehu.3:c.*2209C>T)	ENSG00000203858	Na	Na	Na	Na	Na	Na	Het;C>T	139;5|7	Hom;C>T	227;0|9
N	N	-	1	119988404	119988404	C	T	snp	ncRNA_exonic	 	 	 	 	HSD3BP2																		rs10923823	0.363019	0	0	1	0	0	intergenic	UTR3	ncRNA_exonic	HSD3B2(dist=22742),HSD3B1(dist=61422)	HSD3B2(uc001ehu.3:c.*2542C>T)	ENSG00000203858	Na	Na	Na	Na	Na	Na	Het;C>T	169;10|8	Hom;C>T	492;0|18
N	N	-	1	121116933	121116933	T	C	snp	ncRNA_intronic	 	 	 	 	SRGAP2-AS1																		rs61806692	0.60024	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	SRGAP2-AS1,SRGAP2D	SRGAP2D	ENSG00000171943,ENSG00000230806	Na	Na	Na	Na	Na	Na	Het;T>C	35;8|4	Hom;T>C	279;0|9
N	N	-	1	121116953	121116953	A	G	snp	ncRNA_intronic	 	 	 	 	SRGAP2-AS1																		rs2993862	0.654553	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	SRGAP2-AS1,SRGAP2D	SRGAP2D	ENSG00000171943,ENSG00000230806	Na	Na	Na	Na	Na	Na	Het;A>G	34;4|2	Hom;A>G	216;0|7
N	N	-	1	121131009	121131009	G	A	snp	ncRNA_exonic	 	 	 	 	SRGAP2D																		rs1048832	0.594649	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_intronic	SRGAP2D	SRGAP2D(dist=1182),NONE(dist=NONE)	ENSG00000230806	Na	Na	Na	Na	Na	Na	Het;G>A	248;21|15	Hom;G>A	944;0|35
N	N	-	1	121131036	121131036	C	T	snp	ncRNA_exonic	 	 	 	 	SRGAP2D																		rs12083751	0	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_intronic	SRGAP2D	SRGAP2D(dist=1209),NONE(dist=NONE)	ENSG00000230806	Na	Na	Na	Na	Na	Na	Het;C>T	153;15|8	Hom;C>T	732;0|25
N	N	-	1	121311799	121311799	G	A	snp	ncRNA_exonic	 	 	 	 	EMBP1																		rs11249395	0.472843	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	EMBP1	EMBP1(uc009wht.1:c.*1208G>A)	ENSG00000231752(dist=1208),ENSG00000224857(dist=3945)	Na	Na	Na	Na	Na	Na	Het;G>A	1268;105|69	Hom;G>A	5299;0|195
N	N	-	1	121312687	121312687	A	G	snp	ncRNA_exonic	 	 	 	 	EMBP1																		rs17842570	0.480431	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	EMBP1	EMBP1(uc009wht.1:c.*2096A>G)	ENSG00000231752(dist=2096),ENSG00000224857(dist=3057)	Na	Na	Na	Na	Na	Na	Het;A>G	1543;70|73	Hom;A>G	3579;0|127
N	N	-	1	12248942	12248942	A	G	snp	synonymous SNV	A168G	K56K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs945439	0.199281	0.2351	0.2248	1	0	0	exonic	exonic	exonic	TNFRSF1B	TNFRSF1B	ENSG00000028137	synonymous SNV	synonymous SNV	synonymous SNV	TNFRSF1B:NM_001066:exon2:c.A168G:p.K56K,	TNFRSF1B:uc001att.3:exon2:c.A168G:p.K56K,	ENSG00000028137:ENST00000376259:exon2:c.A168G:p.K56K,ENSG00000028137:ENST00000536782:exon2:c.A168G:p.K56K,	Het;A>G	940;22|25	Hom;A>G	811;0|30
N	N	-	1	12248965	12248965	A	G	snp	intronic	 	 	 	 	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs945438	0.198682	0.2324	0.2239	1	0	0	intronic	intronic	intronic	TNFRSF1B	TNFRSF1B	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;A>G	878;18|23	Hom;A>G	672;0|25
N	N	-	1	12249020	12249020	C	T	snp	intronic	 	 	 	 	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs1815530	0.189497	0	0	1	0	0	intronic	intronic	intronic	TNFRSF1B	TNFRSF1B	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;C>T	231;5|7	Hom;C>T	248;0|9
N	N	-	1	12249031	12249031	A	G	snp	intronic	 	 	 	 	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs1201157	0.611422	0	0	1	0	0	intronic	intronic	intronic	TNFRSF1B	TNFRSF1B	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;A>G	215;3|6	Hom;A>G	227;0|8
N	N	-	1	12251191	12251191	T	A	snp	intronic	 	 	 	 	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs472093	0.136182	0.1548	0.1713	1	0	0	intronic	intronic	intronic	TNFRSF1B	TNFRSF1B	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;T>A	544;20|22	Hom;T>A	612;0|19
N	N	-	1	12251765	12251765	T	G	snp	ncRNA_exonic	 	 	 	 	MIR4632																		rs498906	0.19389	0	0.2976	1	0	0	intronic	ncRNA_exonic	intronic	TNFRSF1B	MIR4632	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;T>G	603;27|25	Hom;T>G	1414;0|48
N	N	-	1	12251808	12251808	T	G	snp	ncRNA_exonic	 	 	 	 	MIR4632																		rs653667	0.303714	0.3268	0.3616	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4632	MIR4632	ENSG00000263676	Na	Na	Na	Na	Na	Na	Het;T>G	1131;44|51	Hom;T>G	2562;0|92
N	N	-	1	12252892	12252892	C	T	snp	intronic	 	 	 	 	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs1768642	0.190895	0.2172	0.2406	1	0	0	intronic	intronic	intronic	TNFRSF1B	TNFRSF1B	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;C>T	565;31|27	Hom;C>T	1423;0|50
N	N	-	1	12252955	12252955	T	G	snp	nonsynonymous SNV	T587G	M196R	hydrophobic,neutral	polar,hydrophilic,charged(+)	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs1061622	0.194688	0.2305	0.2249	0.08	1	13	exonic	exonic	exonic	TNFRSF1B	TNFRSF1B	ENSG00000028137	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	TNFRSF1B:NM_001066:exon6:c.T587G:p.M196R,	TNFRSF1B:uc001att.3:exon6:c.T587G:p.M196R,TNFRSF1B:uc001atu.3:exon5:c.T2G:p.M1R,	ENSG00000028137:ENST00000376259:exon6:c.T587G:p.M196R,	Het;T>G	1088;61|52	Hom;T>G	3466;0|118
N	N	-	1	12261972	12261972	A	G	snp	intronic	 	 	 	 	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs5746051	0.13139	0.1281	0	1	0	0	intronic	intronic	intronic	TNFRSF1B	TNFRSF1B	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;A>G	140;9|6	Hom;A>G	348;0|13
N	N	-	1	12262298	12262298	G	A	snp	intronic	 	 	 	 	TNFRSF1B	Tnfrsf1b	ENSG00000028137	TNF receptor superfamily member 1B	chr1:12227060-12269285	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms	Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.	Neutrophil degranulation	GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B	https://www.uniprot.org/uniprot/P20333	https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191191	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B	rs5746053	0.166733	0	0	1	0	0	intronic	intronic	intronic	TNFRSF1B	TNFRSF1B	ENSG00000028137	Na	Na	Na	Na	Na	Na	Het;G>A	504;6|20	Hom;G>A	981;0|35
N	N	-	1	1239339	1239339	T	G	snp	intronic	 	 	 	 	ACAP3	Acap3	ENSG00000131584	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	chr1:1227756-1244989		Type 2 Diabetes| edema | rosiglitazone	 		GO:0043547;positive regulation of GTPase activity;IEA		GO:0005096;GTPase activator activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACAP3	https://www.uniprot.org/uniprot/Q96P50			http://www.informatics.jax.org/searchtool/Search.do?query=ACAP3&submit=Quick%0D%6560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAP3	rs11260584	0.719249	0	0	1	0	0	intronic	intronic	intronic	ACAP3	ACAP3	ENSG00000131584	Na	Na	Na	Na	Na	Na	Het;T>G	99;2|4	Hom;T>G	459;0|14
N	N	-	1	12401868	12401868	A	C	snp	synonymous SNV	A6219C	P2073P	hydrophobic,neutral	hydrophobic,neutral	VPS13D	Vps13d	ENSG00000048707	vacuolar protein sorting 13 homolog D	chr1:12290124-12572099	This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]	Peripheral Vascular Diseases; Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13D	https://www.uniprot.org/uniprot/Q5THJ4	https://hpo.jax.org/app/browse/search?q=VPS13D&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608877	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13D&submit=Quick%0D%895ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13D	rs28551666	0.796725	0.7886	0.7910	1	0	0	exonic	exonic	exonic	VPS13D	VPS13D	ENSG00000048707	synonymous SNV	synonymous SNV	synonymous SNV	VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P,	VPS13D:uc001atx.3:exon23:c.A6219C:p.P2073P,VPS13D:uc001atw.3:exon40:c.A8583C:p.P2861P,VPS13D:uc001atv.3:exon41:c.A8658C:p.P2886P,	ENSG00000048707:ENST00000356315:exon40:c.A8583C:p.P2861P,ENSG00000048707:ENST00000358136:exon41:c.A8658C:p.P2886P,	Het;A>C	2172;89|100	Hom;A>C	4071;0|147
N	N	-	1	1247494	1247494	T	C	snp	synonymous SNV	A867G	P289P	hydrophobic,neutral	hydrophobic,neutral	CPSF3L	Cpsf3l																	rs12103	0.319289	0.6009	0.5898	1	0	0	exonic	exonic	exonic	CPSF3L	CPSF3L	ENSG00000127054	synonymous SNV	synonymous SNV	synonymous SNV	CPSF3L:NM_017871:exon16:c.A1641G:p.P547P,CPSF3L:NM_001256460:exon17:c.A1554G:p.P518P,CPSF3L:NM_001256463:exon14:c.A1338G:p.P446P,CPSF3L:NM_001256456:exon18:c.A1659G:p.P553P,CPSF3L:NM_001256462:exon14:c.A1347G:p.P449P,	CPSF3L:uc001aek.2:exon13:c.A867G:p.P289P,CPSF3L:uc001aef.2:exon18:c.A1659G:p.P553P,CPSF3L:uc001aee.2:exon16:c.A1641G:p.P547P,CPSF3L:uc009vjz.2:exon16:c.A1575G:p.P525P,CPSF3L:uc001aei.2:exon14:c.A1347G:p.P449P,CPSF3L:uc010nyj.2:exon17:c.A1554G:p.P518P,CPSF3L:uc001aeh.2:exon14:c.A1338G:p.P446P,CPSF3L:uc001aeg.2:exon15:c.A1269G:p.P423P,	ENSG00000127054:ENST00000545578:exon17:c.A1554G:p.P518P,ENSG00000127054:ENST00000421495:exon13:c.A867G:p.P289P,ENSG00000127054:ENST00000435064:exon16:c.A1641G:p.P547P,ENSG00000127054:ENST00000450926:exon16:c.A1575G:p.P525P,ENSG00000127054:ENST00000411962:exon14:c.A1347G:p.P449P,ENSG00000127054:ENST00000419704:exon14:c.A1338G:p.P446P,ENSG00000127054:ENST00000540437:exon18:c.A1659G:p.P553P,	Het;T>C	460;16|20	Hom;T>C	674;0|25
N	N	-	1	1247578	1247578	T	TGGGG	indel	intronic	 	 	 	 	CPSF3L	Cpsf3l																	Na	0	0	0	1	0	0	intronic	intronic	intronic	CPSF3L	CPSF3L	ENSG00000127054	Na	Na	Na	Na	Na	Na	Het;+GGGG	130;13|7	Hom;+GGGG	215;0|6
N	N	-	1	1249187	1249187	G	A	snp	nonsynonymous SNV	C817T	R273C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	INTS11																		rs12142199	0.310104	0.5864	0.5791	1	0	0	exonic	exonic	exonic	CPSF3L	CPSF3L	ENSG00000127054	synonymous SNV	synonymous SNV	nonsynonymous SNV	CPSF3L:NM_017871:exon9:c.C882T:p.F294F,CPSF3L:NM_001256460:exon10:c.C795T:p.F265F,CPSF3L:NM_001256463:exon7:c.C579T:p.F193F,CPSF3L:NM_001256456:exon11:c.C900T:p.F300F,CPSF3L:NM_001256462:exon7:c.C588T:p.F196F,	CPSF3L:uc001aek.2:exon6:c.C108T:p.F36F,CPSF3L:uc001aef.2:exon11:c.C900T:p.F300F,CPSF3L:uc001aee.2:exon9:c.C882T:p.F294F,CPSF3L:uc009vjz.2:exon9:c.C816T:p.F272F,CPSF3L:uc001aei.2:exon7:c.C588T:p.F196F,CPSF3L:uc010nyj.2:exon10:c.C795T:p.F265F,CPSF3L:uc001aeh.2:exon7:c.C579T:p.F193F,CPSF3L:uc001aeg.2:exon8:c.C510T:p.F170F,	ENSG00000127054:ENST00000528879:exon8:c.C817T:p.R273C,	Het;G>A	1309;73|67	Hom;G>A	3067;0|115
N	N	-	1	1254841	1254841	C	G	snp	synonymous SNV	G282C	G94G	aliphatic,neutral	aliphatic,neutral	CPSF3L	Cpsf3l																	rs10907179	0.713658	0.7513	0.8476	1	0	0	exonic	exonic	exonic	CPSF3L	CPSF3L	ENSG00000127054	synonymous SNV	synonymous SNV	synonymous SNV	CPSF3L:NM_017871:exon4:c.G264C:p.G88G,CPSF3L:NM_001256460:exon5:c.G177C:p.G59G,CPSF3L:NM_001256456:exon6:c.G282C:p.G94G,	CPSF3L:uc001aef.2:exon6:c.G282C:p.G94G,CPSF3L:uc001aee.2:exon4:c.G264C:p.G88G,CPSF3L:uc009vjz.2:exon4:c.G264C:p.G88G,CPSF3L:uc001ael.3:exon3:c.G18C:p.G6G,CPSF3L:uc010nyj.2:exon5:c.G177C:p.G59G,	ENSG00000127054:ENST00000545578:exon5:c.G177C:p.G59G,ENSG00000127054:ENST00000435064:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000450926:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000528879:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000434694:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000534345:exon4:c.G267C:p.G89G,ENSG00000127054:ENST00000498476:exon6:c.G444C:p.G148G,ENSG00000127054:ENST00000530031:exon5:c.G405C:p.G135G,ENSG00000127054:ENST00000540437:exon6:c.G282C:p.G94G,ENSG00000127054:ENST00000527719:exon5:c.G282C:p.G94G,	Het;C>G	1111;55|55	Hom;C>G	2416;0|87
N	N	-	1	1262591	1262591	C	T	snp	intronic	 	 	 	 	CPTP	Cptp																	rs2296472	0.719848	0.7598	0.8515	1	0	0	intronic	intronic	intronic	CPTP	GLTPD1	ENSG00000224051	Na	Na	Na	Na	Na	Na	Het;C>T	241;15|13	Hom;C>T	529;0|20
N	N	-	1	1262966	1262966	C	T	snp	synonymous SNV	C468T	R156R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	GLTPD1	 																	rs307349	0.76258	0.8131	0.8716	1	0	0	exonic	exonic	exonic	CPTP	GLTPD1	ENSG00000224051	synonymous SNV	synonymous SNV	synonymous SNV	CPTP:NM_001029885:exon3:c.C468T:p.R156R,	GLTPD1:uc001aeo.3:exon3:c.C468T:p.R156R,	ENSG00000224051:ENST00000343938:exon3:c.C468T:p.R156R,	Het;C>T	1393;65|67	Hom;C>T	3654;0|136
N	N	-	1	1263144	1263144	G	A	snp	UTR3	*1G>A	 	 	 	CPTP	Cptp																	rs307350	0.84984	0.9083	0.8897	1	0	0	UTR3	UTR3	UTR3	CPTP(NM_001029885:c.*1G>A)	GLTPD1(uc001aeo.3:c.*1G>A)	ENSG00000224051(ENST00000343938:c.*1G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1187;45|51	Hom;G>A	2320;0|80
N	N	-	1	1273278	1273278	A	G	snp	intronic	 	 	 	 	DVL1	Dvl1	ENSG00000107404	dishevelled segment polarity protein 1	chr1:1270656-1284730	DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Alzheimer's Disease; Cleft Lip|Cleft Palate	Homozygous targeted mutants are viable and fertile, but show a number of behavioral changes including deficient nest-building, less huddling contact during sleep, reduced subordinate responses, and other social interaction deficits.	RHO GTPases Activate Formins	GO:0001505;regulation of neurotransmitter levels;ISS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IDA|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0007269;neurotransmitter secretion;ISS|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IEA|GO:0007528;neuromuscular junction development;ISS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEP|GO:0022007;convergent extension involved in neural plate elongation;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0031122;cytoplasmic microtubule organization;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0034504;protein localization to nucleus;IMP|GO:0035176;social behavior;IEA|GO:0035372;protein localization to microtubule;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043113;receptor clustering;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048668;collateral sprouting;IEA|GO:0048675;axon extension;IEA|GO:0048813;dendrite morphogenesis;ISS|GO:0050808;synapse organization;ISS|GO:0050821;protein stabilization;IDA|GO:0060029;convergent extension involved in organogenesis;IEA|GO:0060070;canonical Wnt signaling pathway;IGI|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0060134;prepulse inhibition;IEA|GO:0060997;dendritic spine morphogenesis;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090103;cochlea morphogenesis;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IBA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:0099054;presynapse assembly;TAS|GO:1903827;regulation of cellular protein localization;IDA|GO:1904886;beta-catenin destruction complex disassembly;TAS|GO:1905386;positive regulation of protein localization to presynapse;TAS|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;ISS|GO:0098793;presynapse;IEA|GO:1990909;Wnt signalosome;IEA	GO:0005109;frizzled binding;IPI|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0048365;Rac GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DVL1	https://www.uniprot.org/uniprot/O14640	https://hpo.jax.org/app/browse/search?q=DVL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601365	http://www.informatics.jax.org/searchtool/Search.do?query=DVL1&submit=Quick%0D%3605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DVL1	rs307370	0.684305	0	0.7393	1	0	0	intronic	intronic	intronic	DVL1	DVL1	ENSG00000107404	Na	Na	Na	Na	Na	Na	Het;A>G	243;8|9	Hom;A>G	337;0|10
N	N	-	1	12776134	12776134	C	A	snp	UTR5	-3346C>A	 	 	 	AADACL3	Aadacl3	ENSG00000188984	arylacetamide deacetylase like 3	chr1:12776118-12788726			 		GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA		GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AADACL3				http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3	rs3010874	0.708466	0	0	1	0	0	UTR5	UTR5	UTR5	AADACL3(NM_001103170:c.-46C>A)	AADACL3(uc009vnn.1:c.-3346C>A,uc001aug.1:c.-210C>A)	ENSG00000188984(ENST00000332530:c.-210C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	460;30|24	Hom;C>A	1521;1|57
N	N	-	1	12776218	12776218	A	C	snp	unknown	 	 	 	 	AADACL3	Aadacl3	ENSG00000188984	arylacetamide deacetylase like 3	chr1:12776118-12788726			 		GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA		GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AADACL3				http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3	rs3000860	0.85643	0	0	1	0	0	exonic	UTR5	UTR5	AADACL3	AADACL3(uc009vnn.1:c.-3262A>C,uc001aug.1:c.-126A>C)	ENSG00000188984(ENST00000332530:c.-126A>C,ENST00000359318:c.-3262A>C)	unknown	Na	Na	UNKNOWN	Na	Na	Het;A>C	1158;74|56	Hom;A>C	2388;2|92
N	N	-	1	12776344	12776344	A	T	snp	nonsynonymous SNV	A1T	M1L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AADACL3	Aadacl3	ENSG00000188984	arylacetamide deacetylase like 3	chr1:12776118-12788726			 		GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA		GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AADACL3				http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3	rs3000859	0.65655	0.7263	0.7779	1	0	0	exonic	exonic	exonic	AADACL3	AADACL3	ENSG00000188984	unknown	nonsynonymous SNV	nonsynonymous SNV	UNKNOWN	AADACL3:uc001aug.1:exon1:c.A1T:p.M1L,	ENSG00000188984:ENST00000332530:exon1:c.A1T:p.M1L,	Het;A>T	524;22|23	Hom;A>T	1077;0|36
N	N	-	1	12779560	12779560	T	C	snp	synonymous SNV	T81C	D27D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AADACL3	Aadacl3	ENSG00000188984	arylacetamide deacetylase like 3	chr1:12776118-12788726			 		GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA		GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AADACL3				http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3	rs3010876	0.849441	0.8568	0.8328	1	0	0	exonic	exonic	exonic	AADACL3	AADACL3	ENSG00000188984	unknown	synonymous SNV	synonymous SNV	UNKNOWN	AADACL3:uc009vnn.1:exon2:c.T81C:p.D27D,	ENSG00000188984:ENST00000359318:exon2:c.T81C:p.D27D,	Het;T>C	1710;115|85	Hom;T>C	5317;0|195
N	N	-	1	12779618	12779618	T	C	snp	nonsynonymous SNV	T139C	S47P	polar,hydrophilic,neutral	hydrophobic,neutral	AADACL3	Aadacl3	ENSG00000188984	arylacetamide deacetylase like 3	chr1:12776118-12788726			 		GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA		GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AADACL3				http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3	rs3010877	0.848043	0.8575	0.8317	1	0	0	exonic	exonic	exonic	AADACL3	AADACL3	ENSG00000188984	unknown	nonsynonymous SNV	nonsynonymous SNV	UNKNOWN	AADACL3:uc009vnn.1:exon2:c.T139C:p.S47P,	ENSG00000188984:ENST00000359318:exon2:c.T139C:p.S47P,	Het;T>C	2311;133|113	Hom;T>C	6834;0|250
N	N	-	1	12785093	12785093	T	G	snp	intronic	 	 	 	 	AADACL3	Aadacl3	ENSG00000188984	arylacetamide deacetylase like 3	chr1:12776118-12788726			 		GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA		GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AADACL3				http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3	rs4361998	0.804712	0	0	1	0	0	intronic	intronic	intronic	AADACL3	AADACL3	ENSG00000188984	Na	Na	Na	Na	Na	Na	Het;T>G	113;2|4	Hom;T>G	172;0|5
N	N	-	1	12788406	12788406	G	A	snp	UTR3	*2443G>A	 	 	 	AADACL3	Aadacl3	ENSG00000188984	arylacetamide deacetylase like 3	chr1:12776118-12788726			 		GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA		GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AADACL3				http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3	rs3000929	0.825879	0	0	1	0	0	UTR3	UTR3	UTR3	AADACL3(NM_001103170:c.*2443G>A)	AADACL3(uc009vnn.1:c.*2443G>A,uc001aug.1:c.*2443G>A)	ENSG00000188984(ENST00000332530:c.*2443G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	194;12|8	Hom;G>A	290;0|9
N	N	-	1	12820870	12820870	T	C	snp	nonsynonymous SNV	T571C	F191L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C1orf158	1700012P22Rik	ENSG00000157330	chromosome 1 open reading frame 158	chr1:12806163-12823847			 					http://www.genecards.org/index.php?path=/Search/keyword/C1orf158				http://www.informatics.jax.org/searchtool/Search.do?query=C1orf158&submit=Quick%0D%10081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf158	rs1132185	0.823482	0.8246	0.7952	1	0	0	exonic	exonic	exonic	C1orf158	C1orf158	ENSG00000157330	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	C1orf158:NM_152290:exon4:c.T571C:p.F191L,	C1orf158:uc001auh.3:exon4:c.T571C:p.F191L,	ENSG00000157330:ENST00000376210:exon3:c.T457C:p.F153L,ENSG00000157330:ENST00000288048:exon4:c.T571C:p.F191L,	Het;T>C	2468;149|117	Hom;T>C	7125;2|259
N	N	-	1	12821075	12821075	A	G	snp	UTR3	*191A>G	 	 	 	C1orf158	1700012P22Rik	ENSG00000157330	chromosome 1 open reading frame 158	chr1:12806163-12823847			 					http://www.genecards.org/index.php?path=/Search/keyword/C1orf158				http://www.informatics.jax.org/searchtool/Search.do?query=C1orf158&submit=Quick%0D%10081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf158	rs12059239	0.10603	0	0	1	0	0	UTR3	UTR3	UTR3	C1orf158(NM_152290:c.*191A>G)	C1orf158(uc001auh.3:c.*191A>G)	ENSG00000157330(ENST00000288048:c.*191A>G,ENST00000376210:c.*191A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	76;2|3	Hom;A>G	124;0|4
N	N	-	1	1284490	1284490	G	A	snp	UTR5	-45C>T	 	 	 	DVL1	Dvl1	ENSG00000107404	dishevelled segment polarity protein 1	chr1:1270656-1284730	DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Alzheimer's Disease; Cleft Lip|Cleft Palate	Homozygous targeted mutants are viable and fertile, but show a number of behavioral changes including deficient nest-building, less huddling contact during sleep, reduced subordinate responses, and other social interaction deficits.	RHO GTPases Activate Formins	GO:0001505;regulation of neurotransmitter levels;ISS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IDA|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0007269;neurotransmitter secretion;ISS|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IEA|GO:0007528;neuromuscular junction development;ISS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEP|GO:0022007;convergent extension involved in neural plate elongation;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0031122;cytoplasmic microtubule organization;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0034504;protein localization to nucleus;IMP|GO:0035176;social behavior;IEA|GO:0035372;protein localization to microtubule;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043113;receptor clustering;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048668;collateral sprouting;IEA|GO:0048675;axon extension;IEA|GO:0048813;dendrite morphogenesis;ISS|GO:0050808;synapse organization;ISS|GO:0050821;protein stabilization;IDA|GO:0060029;convergent extension involved in organogenesis;IEA|GO:0060070;canonical Wnt signaling pathway;IGI|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0060134;prepulse inhibition;IEA|GO:0060997;dendritic spine morphogenesis;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090103;cochlea morphogenesis;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IBA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:0099054;presynapse assembly;TAS|GO:1903827;regulation of cellular protein localization;IDA|GO:1904886;beta-catenin destruction complex disassembly;TAS|GO:1905386;positive regulation of protein localization to presynapse;TAS|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;ISS|GO:0098793;presynapse;IEA|GO:1990909;Wnt signalosome;IEA	GO:0005109;frizzled binding;IPI|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0048365;Rac GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DVL1	https://www.uniprot.org/uniprot/O14640	https://hpo.jax.org/app/browse/search?q=DVL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601365	http://www.informatics.jax.org/searchtool/Search.do?query=DVL1&submit=Quick%0D%3605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DVL1	rs150789461	0.762979	0.8731	0.8973	1	0	0	UTR5	UTR5	UTR5	DVL1(NM_004421:c.-45C>T)	DVL1(uc001aer.4:c.-45C>T)	ENSG00000107404(ENST00000378888:c.-45C>T,ENST00000378891:c.-45C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	214;8|9	Hom;G>A	196;0|8
N	N	-	1	12854530	12854530	C	G	snp	nonsynonymous SNV	C754G	Q252E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	PRAMEF1		ENSG00000116721	PRAME family member 1	chr1:12851546-12856777	This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]				GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA			http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF1	https://www.uniprot.org/uniprot/O95521			http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF1&submit=Quick%0D%4777ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF1	rs1063776	0.867212	0.8728	0.8553	1	0	0	exonic	exonic	exonic	PRAMEF1	PRAMEF1	ENSG00000116721	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.C754G:p.Q252E,	PRAMEF1:uc001auj.2:exon3:c.C754G:p.Q252E,	ENSG00000116721:ENST00000332296:exon3:c.C754G:p.Q252E,	Het;C>G	3664;164|169	Hom;C>G	6775;0|240
N	N	-	1	12854713	12854713	G	T	snp	intronic	 	 	 	 	PRAMEF1		ENSG00000116721	PRAME family member 1	chr1:12851546-12856777	This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]				GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA			http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF1	https://www.uniprot.org/uniprot/O95521			http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF1&submit=Quick%0D%4777ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF1	rs11121979	0.429513	0	0	1	0	0	intronic	intronic	intronic	PRAMEF1	PRAMEF1	ENSG00000116721	Na	Na	Na	Na	Na	Na	Het;G>T	533;28|24	Hom;G>T	1533;0|55
N	N	-	1	1288583	1288583	C	G	snp	UTR3	*401G>C	 	 	 	MXRA8	Mxra8	ENSG00000162576	matrix remodeling associated 8	chr1:1288069-1297157			Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen.	Post-translational protein phosphorylation	GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060857;establishment of glial blood-brain barrier;ISS	GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MXRA8			https://www.ncbi.nlm.nih.gov/omim/?term=617293	http://www.informatics.jax.org/searchtool/Search.do?query=MXRA8&submit=Quick%0D%10733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MXRA8	rs3845295	0.84365	0	0	1	0	0	UTR3	UTR3	UTR3	MXRA8(NM_032348:c.*401G>C,NM_001282584:c.*401G>C,NM_001282582:c.*401G>C,NM_001282585:c.*98G>C,NM_001282583:c.*401G>C)	MXRA8(uc001aew.3:c.*401G>C,uc001aex.4:c.*98G>C,uc001aey.4:c.*98G>C,uc001aez.3:c.*401G>C,uc001afa.3:c.*401G>C)	ENSG00000162576(ENST00000309212:c.*401G>C,ENST00000342753:c.*401G>C,ENST00000477278:c.*401G>C,ENST00000445648:c.*98G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	184;9|10	Hom;C>G	606;0|22
N	N	-	1	1288823	1288823	A	G	snp	UTR3	*161T>C	 	 	 	MXRA8	Mxra8	ENSG00000162576	matrix remodeling associated 8	chr1:1288069-1297157			Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen.	Post-translational protein phosphorylation	GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060857;establishment of glial blood-brain barrier;ISS	GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MXRA8			https://www.ncbi.nlm.nih.gov/omim/?term=617293	http://www.informatics.jax.org/searchtool/Search.do?query=MXRA8&submit=Quick%0D%10733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MXRA8	rs2296471	0.760783	0	0	1	0	0	UTR3	UTR3	UTR3	MXRA8(NM_032348:c.*161T>C,NM_001282584:c.*161T>C,NM_001282582:c.*161T>C,NM_001282583:c.*161T>C)	MXRA8(uc001aew.3:c.*161T>C,uc001aez.3:c.*161T>C,uc001afa.3:c.*161T>C)	ENSG00000162576(ENST00000309212:c.*161T>C,ENST00000342753:c.*161T>C,ENST00000477278:c.*161T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	244;14|12	Hom;A>G	576;0|19
N	N	-	1	1289367	1289369	CTG	C	indel	intronic	 	 	 	 	MXRA8	Mxra8	ENSG00000162576	matrix remodeling associated 8	chr1:1288069-1297157			Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen.	Post-translational protein phosphorylation	GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060857;establishment of glial blood-brain barrier;ISS	GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MXRA8			https://www.ncbi.nlm.nih.gov/omim/?term=617293	http://www.informatics.jax.org/searchtool/Search.do?query=MXRA8&submit=Quick%0D%10733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MXRA8	rs140777846	0.820687	0.8745	0.8809	1	0	0	intronic	intronic	intronic	MXRA8	MXRA8	ENSG00000162576	Na	Na	Na	Na	Na	Na	Het;-TG	2476;55|65	Hom;-TG	4122;0|94
N	N	-	1	12898654	12898654	A	G	snp	ncRNA_exonic	 	 	 	 	PRAMEF30P																		rs55954336	0.453275	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PRAMEF11(dist=7390),HNRNPCL3(dist=8576)	PRAMEF11(dist=7390),LOC649330(dist=8582)	ENSG00000231103	Na	Na	Na	Na	Na	Na	Het;A>G	2394;112|103	Hom;A>G	5067;0|174
N	N	-	1	1289911	1289911	G	A	snp	intronic	 	 	 	 	MXRA8	Mxra8	ENSG00000162576	matrix remodeling associated 8	chr1:1288069-1297157			Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen.	Post-translational protein phosphorylation	GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060857;establishment of glial blood-brain barrier;ISS	GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MXRA8			https://www.ncbi.nlm.nih.gov/omim/?term=617293	http://www.informatics.jax.org/searchtool/Search.do?query=MXRA8&submit=Quick%0D%10733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MXRA8	rs4970365	0.828474	0.8871	0.8850	1	0	0	intronic	intronic	intronic	MXRA8	MXRA8	ENSG00000162576	Na	Na	Na	Na	Na	Na	Het;G>A	518;21|25	Hom;G>A	1714;0|59
N	N	-	1	1293764	1293764	G	C	snp	intronic	 	 	 	 	MXRA8	Mxra8	ENSG00000162576	matrix remodeling associated 8	chr1:1288069-1297157			Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen.	Post-translational protein phosphorylation	GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060857;establishment of glial blood-brain barrier;ISS	GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MXRA8			https://www.ncbi.nlm.nih.gov/omim/?term=617293	http://www.informatics.jax.org/searchtool/Search.do?query=MXRA8&submit=Quick%0D%10733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MXRA8	rs34841888	0.316693	0.6231	0	1	0	0	intronic	intronic	intronic	MXRA8	MXRA8	ENSG00000162576	Na	Na	Na	Na	Na	Na	Het;G>C	452;10|20	Hom;G>C	665;0|25
N	N	-	1	12954967	12954967	G	T	snp	synonymous SNV	C316A	R106R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PRAMEF10		ENSG00000282663	PRAME family member 10	chr1:12952727-12958101					GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA			http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF10				http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF10&submit=Quick%0D%22569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF10	Na	0.0489217	0.0392	0.0494	1	0	0	intergenic	exonic	exonic	PRAMEF4(dist=8942),PRAMEF7(dist=21500)	PRAMEF10	ENSG00000187545	Na	synonymous SNV	synonymous SNV	Na	PRAMEF10:uc001auo.3:exon3:c.C316A:p.R106R,	ENSG00000187545:ENST00000235347:exon3:c.C316A:p.R106R,	Het;G>T	597;40|28	Hom;G>T	1354;0|44
N	N	-	1	13173016	13173016	A	G	snp	ncRNA_exonic	 	 	 	 	PRAMEF35P																		rs1852947	0.444089	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC645354(dist=5823),HNRNPCL2(dist=9944)	PRAMEF5(dist=55265),LOC440563(dist=9944)	ENSG00000236179	Na	Na	Na	Na	Na	Na	Het;A>G	520;36|22	Hom;A>G	1722;0|62
N	N	-	1	1321299	1321299	A	AG	indel	UTR3	*1312T>CT	 	 	 	CCNL2	Ccnl2	ENSG00000221978	cyclin L2	chr1:1321091-1334708	The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]		 		GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:1901409;positive regulation of phosphorylation of RNA polymerase II C-terminal domain;IBA	GO:0000307;cyclin-dependent protein kinase holoenzyme complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0016538;cyclin-dependent protein serine/threonine kinase regulator activity;IBA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCNL2			https://www.ncbi.nlm.nih.gov/omim/?term=613482	http://www.informatics.jax.org/searchtool/Search.do?query=CCNL2&submit=Quick%0D%18449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNL2	rs34180804	0.711062	0	0	1	0	0	UTR3	UTR3	downstream	CCNL2(NM_030937:c.*1312T>CT)	CCNL2(uc001aff.1:c.*1312T>CT,uc001afg.1:c.*1312T>CT,uc001afi.2:c.*1312T>CT,uc001afj.2:c.*1312T>CT)	ENSG00000221978	Na	Na	Na	Na	Na	Na	Het;+G	1347;51|56	Hom;+G	2276;0|75
N	N	-	1	1323078	1323078	A	G	snp	intronic	 	 	 	 	CCNL2	Ccnl2	ENSG00000221978	cyclin L2	chr1:1321091-1334708	The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]		 		GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:1901409;positive regulation of phosphorylation of RNA polymerase II C-terminal domain;IBA	GO:0000307;cyclin-dependent protein kinase holoenzyme complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0016538;cyclin-dependent protein serine/threonine kinase regulator activity;IBA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCNL2			https://www.ncbi.nlm.nih.gov/omim/?term=613482	http://www.informatics.jax.org/searchtool/Search.do?query=CCNL2&submit=Quick%0D%18449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNL2	rs12729599	0.315096	0	0	1	0	0	intronic	intronic	intronic	CCNL2	CCNL2	ENSG00000221978	Na	Na	Na	Na	Na	Na	Het;A>G	165;29|9	Hom;A>G	1099;0|32
N	N	-	1	1323143	1323145	CCT	C	indel	intronic	 	 	 	 	CCNL2	Ccnl2	ENSG00000221978	cyclin L2	chr1:1321091-1334708	The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]		 		GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:1901409;positive regulation of phosphorylation of RNA polymerase II C-terminal domain;IBA	GO:0000307;cyclin-dependent protein kinase holoenzyme complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0016538;cyclin-dependent protein serine/threonine kinase regulator activity;IBA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCNL2			https://www.ncbi.nlm.nih.gov/omim/?term=613482	http://www.informatics.jax.org/searchtool/Search.do?query=CCNL2&submit=Quick%0D%18449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNL2	rs35654872	0.34345	0.6359	0.6518	1	0	0	intronic	intronic	intronic	CCNL2	CCNL2	ENSG00000221978	Na	Na	Na	Na	Na	Na	Het;-CT	1679;54|45	Hom;-CT	3968;0|89
N	N	-	1	13936822	13936822	G	T	snp	intronic	 	 	 	 	PDPN	Pdpn	ENSG00000162493	podoplanin	chr1:13909960-13944452	This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Lymphedema; ovarian cancer	Homozygous null neonates die exhibiting respiratory failure. Mice homozygous for another knock-out allele exhibit blood-lymph mixing and intestinal edema.	GPVI-mediated activation cascade	GO:0000902;cell morphogenesis;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030168;platelet activation;TAS|GO:0030324;lung development;IEA|GO:0048286;lung alveolus development;IEA|GO:0051272;positive regulation of cellular component movement;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA	GO:0001726;ruffle;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0031527;filopodium membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA	GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDPN			https://www.ncbi.nlm.nih.gov/omim/?term=608863	http://www.informatics.jax.org/searchtool/Search.do?query=PDPN&submit=Quick%0D%10715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDPN	rs404658	0.677915	0	0	1	0	0	intronic	intronic	intronic	PDPN	PDPN	ENSG00000162493	Na	Na	Na	Na	Na	Na	Het;G>T	205;5|9	Hom;G>T	695;0|25
N	N	-	1	13937089	13937089	G	T	snp	intronic	 	 	 	 	PDPN	Pdpn	ENSG00000162493	podoplanin	chr1:13909960-13944452	This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Lymphedema; ovarian cancer	Homozygous null neonates die exhibiting respiratory failure. Mice homozygous for another knock-out allele exhibit blood-lymph mixing and intestinal edema.	GPVI-mediated activation cascade	GO:0000902;cell morphogenesis;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030168;platelet activation;TAS|GO:0030324;lung development;IEA|GO:0048286;lung alveolus development;IEA|GO:0051272;positive regulation of cellular component movement;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA	GO:0001726;ruffle;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0031527;filopodium membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA	GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDPN			https://www.ncbi.nlm.nih.gov/omim/?term=608863	http://www.informatics.jax.org/searchtool/Search.do?query=PDPN&submit=Quick%0D%10715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDPN	rs2487643	0.661741	0	0	1	0	0	intronic	intronic	intronic	PDPN	PDPN	ENSG00000162493	Na	Na	Na	Na	Na	Na	Het;G>T	141;21|8	Hom;G>T	925;0|35
N	N	-	1	13940014	13940014	C	T	snp	intronic	 	 	 	 	PDPN	Pdpn	ENSG00000162493	podoplanin	chr1:13909960-13944452	This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Lymphedema; ovarian cancer	Homozygous null neonates die exhibiting respiratory failure. Mice homozygous for another knock-out allele exhibit blood-lymph mixing and intestinal edema.	GPVI-mediated activation cascade	GO:0000902;cell morphogenesis;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030168;platelet activation;TAS|GO:0030324;lung development;IEA|GO:0048286;lung alveolus development;IEA|GO:0051272;positive regulation of cellular component movement;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA	GO:0001726;ruffle;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0031527;filopodium membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA	GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDPN			https://www.ncbi.nlm.nih.gov/omim/?term=608863	http://www.informatics.jax.org/searchtool/Search.do?query=PDPN&submit=Quick%0D%10715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDPN	rs1767681	0.692891	0	0	1	0	0	intronic	intronic	intronic	PDPN	PDPN	ENSG00000162493	Na	Na	Na	Na	Na	Na	Het;C>T	82;6|4	Hom;C>T	419;0|13
N	N	-	1	14199650	14199651	GA	G	indel	intergenic	 	 	 	 	PRDM2	Prdm2	ENSG00000116731	PR/SET domain 2	chr1:14026693-14151574	This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	colorectal cancer; Cholesterol, HDL; breast cancer; overall effect; lung cancer; Heart Rate; Parkinson Disease; Echocardiography; epithelial ovarian cancer ; Respiratory Function Tests; Marijuana Abuse|Psychoses, Substance-Induced; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Alzheimer's disease ; Bone Mineral Density; Body Mass Index; Fibrinogen; Breath Tests	Homozygous null mice have shortened life spans, becoming moribund due to increased incidence of tumors. Mice had a broad spectrum of unusual tumors in multiple organs, with a high incidence of diffuse large B cell lymphomas.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005794;Golgi apparatus;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IMP|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDM2	https://www.uniprot.org/uniprot/Q13029		https://www.ncbi.nlm.nih.gov/omim/?term=601196	http://www.informatics.jax.org/searchtool/Search.do?query=PRDM2&submit=Quick%0D%4780ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM2	rs34309324	0.779553	0	0	1	0	0	intergenic	intergenic	intergenic	PRDM2(dist=48076),KAZN(dist=725562)	PRDM2(dist=48076),KAZN(dist=725562)	ENSG00000116731(dist=48076),ENSG00000252151(dist=251077)	Na	Na	Na	Na	Na	Na	Het;-A	144;2|10	Hom;-A	538;0|15
N	N	-	1	142635837	142635837	G	A	snp	ncRNA_exonic	 	 	 	 	ENSG00000203849																		rs2841845	0	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	NONE(dist=NONE),ANKRD20A12P(dist=61584)	CR936796	ENSG00000203849	Na	Na	Na	Na	Na	Na	Het;G>A	1024;32|48	Hom;G>A	2169;8|86
N	N	-	1	143275103	143275103	T	C	snp	intergenic	 	 	 	 	ENSG00000234654																		rs10127443	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723769(dist=72864),MIR6077(dist=397818)	CR936796(dist=17340),DQ587539(dist=11853)	ENSG00000234654(dist=28893),ENSG00000225010(dist=67741)	Na	Na	Na	Na	Na	Na	Het;T>C	95;0|4	Hom;T>C	242;0|6
N	N	-	1	144828454	144828454	G	C	snp	intronic	 	 	 	 	NBPF20	 	ENSG00000162825	NBPF member 20	chr1:148250249-148347506	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]		 					http://www.genecards.org/index.php?path=/Search/keyword/NBPF20			https://www.ncbi.nlm.nih.gov/omim/?term=614007	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20	rs9424774	0.690495	0	0	1	0	0	intronic	intronic	intronic	NBPF20,NBPF8,NBPF9	LOC100288142,LOC653513,NBPF8,NBPF9,PDE4DIP	ENSG00000168614	Na	Na	Na	Na	Na	Na	Het;G>C	374;14|18	Hom;G>C	965;0|33
N	N	-	1	144852080	144852080	T	C	snp	UTR3	*378A>G	 	 	 	PDE4DIP	Pde4dip	ENSG00000178104	phosphodiesterase 4D interacting protein	chr1:144836157-145076186	The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit partial (in utero or perinatal) lethality, hyperactivity, and increased vertical activity.		GO:0043623;cellular protein complex assembly;ISS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030016;myofibril;ISS	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PDE4DIP			https://www.ncbi.nlm.nih.gov/omim/?term=608117	http://www.informatics.jax.org/searchtool/Search.do?query=PDE4DIP&submit=Quick%0D%14135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4DIP	rs1619391	0	0	0	1	0	0	UTR3	UTR3	UTR3	PDE4DIP(NM_001198834:c.*274A>G,NM_001198832:c.*378A>G,NM_014644:c.*378A>G)	PDE4DIP(uc001elv.4:c.*378A>G,uc001elw.4:c.*378A>G,uc021ouh.1:c.*274A>G,uc001elx.4:c.*378A>G)	ENSG00000178104(ENST00000313382:c.*378A>G,ENST00000369356:c.*274A>G,ENST00000369354:c.*378A>G,ENST00000369359:c.*378A>G,ENST00000530740:c.*378A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	160;1|6	Hom;T>C	177;0|6
N	N	-	1	144854397	144854397	T	C	snp	intronic	 	 	 	 	NBPF20	 	ENSG00000162825	NBPF member 20	chr1:148250249-148347506	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]		 					http://www.genecards.org/index.php?path=/Search/keyword/NBPF20			https://www.ncbi.nlm.nih.gov/omim/?term=614007	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20	rs833193	0.907548	0	0	1	0	0	intronic	intronic	intronic	NBPF20,NBPF9,PDE4DIP	LOC100288142,LOC653513,NBPF9,PDE4DIP	ENSG00000178104	Na	Na	Na	Na	Na	Na	Het;T>C	3660;46|90	Hom;T>C	7073;0|160
N	N	-	1	144994170	144994170	A	C	snp	intronic	 	 	 	 	NBPF20	 	ENSG00000162825	NBPF member 20	chr1:148250249-148347506	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]		 					http://www.genecards.org/index.php?path=/Search/keyword/NBPF20			https://www.ncbi.nlm.nih.gov/omim/?term=614007	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20	rs2477100	0	0	0	1	0	0	intronic	intronic	intronic	NBPF20,NBPF9,PDE4DIP	LOC100288142,LOC653513,NBPF9,PDE4DIP	ENSG00000178104	Na	Na	Na	Na	Na	Na	Het;A>C	325;2|13	Hom;A>C	151;0|6
N	N	-	1	145137782	145137782	G	A	snp	intronic	 	 	 	 	NBPF20	 	ENSG00000162825	NBPF member 20	chr1:148250249-148347506	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]		 					http://www.genecards.org/index.php?path=/Search/keyword/NBPF20			https://www.ncbi.nlm.nih.gov/omim/?term=614007	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20	rs116306710	0.857029	0	0	1	0	0	intronic	intronic	intergenic	NBPF20,NBPF9	LOC100288142,NBPF9	ENSG00000223380(dist=20860),ENSG00000177144(dist=1243)	Na	Na	Na	Na	Na	Na	Het;G>A	366;6|19	Hom;G>A	783;0|31
N	N	-	1	145323757	145323757	A	T	snp	ncRNA_intronic	 	 	 	 	NBPF25P																		rs61816420	0.732029	0	0	1	0	0	ncRNA_intronic	intronic	intronic	NBPF25P	LOC100288142,NBPF10,NBPF9	ENSG00000163386	Na	Na	Na	Na	Na	Na	Het;A>T	1097;12|49	Hom;A>T	1020;0|39
N	N	-	1	146523957	146523957	T	C	snp	ncRNA_exonic	 	 	 	 	AC244394.1																		rs61734778	0.348043	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC728989(dist=9358),RNVU1-8(dist=32206)	LOC728989(dist=9358),TRNA_His(dist=20816)	ENSG00000225603	Na	Na	Na	Na	Na	Na	Het;T>C	417;23|18	Hom;T>C	1250;0|42
N	N	-	1	146524039	146524039	A	G	snp	ncRNA_exonic	 	 	 	 	AC244394.1																		rs60304320	0.348043	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC728989(dist=9440),RNVU1-8(dist=32124)	LOC728989(dist=9440),TRNA_His(dist=20734)	ENSG00000225603	Na	Na	Na	Na	Na	Na	Het;A>G	821;53|44	Hom;A>G	2230;0|87
N	N	-	1	146524094	146524094	C	T	snp	ncRNA_intronic	 	 	 	 	NBPF13P																		rs61838901	0.347843	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC728989(dist=9495),RNVU1-8(dist=32069)	LOC728989(dist=9495),TRNA_His(dist=20679)	ENSG00000227242	Na	Na	Na	Na	Na	Na	Het;C>T	897;53|45	Hom;C>T	2153;0|79
N	N	-	1	146524215	146524215	C	T	snp	ncRNA_intronic	 	 	 	 	NBPF13P																		rs56258145	0.347843	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC728989(dist=9616),RNVU1-8(dist=31948)	LOC728989(dist=9616),TRNA_His(dist=20558)	ENSG00000227242	Na	Na	Na	Na	Na	Na	Het;C>T	227;18|12	Hom;C>T	456;0|18
N	N	-	1	146643555	146643555	A	G	snp	intronic	 	 	 	 	PRKAB2	Prkab2	ENSG00000131791	protein kinase AMP-activated non-catalytic subunit beta 2	chr1:146626685-146644129	The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]	atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2	Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia.	Regulation of TP53 Activity through Phosphorylation	GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA	GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2	https://www.uniprot.org/uniprot/O43741		https://www.ncbi.nlm.nih.gov/omim/?term=602741	http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2	rs1348316	0.669529	0.4903	0.5236	1	0	0	intronic	intronic	intronic	PRKAB2	PRKAB2	ENSG00000131791	Na	Na	Na	Na	Na	Na	Het;A>G	366;35|20	Hom;A>G	940;0|35
N	N	-	1	14699694	14699708	AATATATATATATAT	A	indel	intergenic	 	 	 	 	AL359873.1																		rs398052789	0	0	0	1	0	0	intergenic	intergenic	intergenic	PRDM2(dist=548120),KAZN(dist=225505)	PRDM2(dist=548120),KAZN(dist=225505)	ENSG00000234593(dist=22176),ENSG00000189337(dist=225492)	Na	Na	Na	Na	Na	Na	Het;-ATATATATATATAT	45;1|2	Hom;-ATATATATATATAT	55;0|2
N	N	-	1	147035577	147035577	T	C	snp	intronic	 	 	 	 	BCL9	Bcl9	ENSG00000116128	B-cell CLL/lymphoma 9	chr1:147013182-147098017	BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]	Hip; Blood Flow Velocity; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Type 2 Diabetes| edema | rosiglitazone	Mice carrying homozygous floxed Bcl9 and Bcl9l alleles, inactivated in muscle cells, exhibit impaired muscle regeneration due to increased apoptosis.	Deactivation of the beta-catenin transactivating complex	GO:0014908;myotube differentiation involved in skeletal muscle regeneration;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;IDA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL9	https://www.uniprot.org/uniprot/O00512		https://www.ncbi.nlm.nih.gov/omim/?term=602597	http://www.informatics.jax.org/searchtool/Search.do?query=BCL9&submit=Quick%0D%4705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL9	rs10793690	0.751198	0	0	1	0	0	intronic	intronic	intronic	BCL9	BCL9	ENSG00000116128	Na	Na	Na	Na	Na	Na	Het;T>C	838;31|42	Hom;T>C	1701;0|64
N	N	-	1	147381397	147381397	G	GA	indel	downstream	 	 	 	 	GJA8	Gja8	ENSG00000121634	gap junction protein alpha 8	chr1:147374946-147381393	This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]	schizophrenia; Macular Degeneration; Cataract	Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background.	Gap junction assembly	GO:0002088;lens development in camera-type eye;IEA|GO:0006810;transport;TAS|GO:0007154;cell communication;IEA|GO:0007267;cell-cell signaling;IEA|GO:0007601;visual perception;TAS|GO:0043010;camera-type eye development;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005921;gap junction;IEA|GO:0005922;connexin complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005243;gap junction channel activity;IEA|GO:0015267;channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GJA8	https://www.uniprot.org/uniprot/P48165	https://hpo.jax.org/app/browse/search?q=GJA8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600897	http://www.informatics.jax.org/searchtool/Search.do?query=GJA8&submit=Quick%0D%5331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GJA8	rs587649338	0.369409	0	0.4152	1	0	0	downstream	downstream	downstream	GJA8	GJA8	ENSG00000121634	Na	Na	Na	Na	Na	Na	Het;+A	300;6|18	Hom;+A	310;0|16
N	N	-	1	148004232	148004232	G	A	snp	UTR3	*316C>T	 	 	 	ENSG00000122497																		rs4950566	0	0	0	1	0	0	intronic	ncRNA_intronic	UTR3	NBPF8	FLJ39739	ENSG00000122497(ENST00000310701:c.*316C>T,ENST00000369219:c.*316C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	2238;121|112	Hom;G>A	5311;0|199
N	N	-	1	148901894	148901894	C	T	snp	ncRNA_exonic	 	 	 	 	DRD5P2																		rs79685695	0	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	DRD5P2,LOC101060524	AK310441	ENSG00000175658	Na	Na	Na	Na	Na	Na	Het;C>T	114;7|7	Hom;C>T	254;0|12
N	N	-	1	149670366	149670366	C	T	snp	ncRNA_exonic	 	 	 	 	LOC103091866																		rs12117366	0.500599	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LOC103091866	LINC00869	ENSG00000234232	Na	Na	Na	Na	Na	Na	Het;C>T	1502;31|65	Hom;C>T	1255;0|46
N	N	-	1	150039678	150039678	G	A	snp	UTR5	-237G>A	 	 	 	VPS45	Vps45	ENSG00000136631	vacuolar protein sorting 45 homolog	chr1:150039369-150117505	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]	NEUTROPENIA SEVERE CONGENITAL 5 AUTOSOMAL RECESSIVE	 	Factors involved in megakaryocyte development and platelet production	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007596;blood coagulation;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005575;cellular_component;ND|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VPS45	https://www.uniprot.org/uniprot/Q9NRW7	https://hpo.jax.org/app/browse/search?q=VPS45&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610035	http://www.informatics.jax.org/searchtool/Search.do?query=VPS45&submit=Quick%0D%7373ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS45	rs2027349	0.764577	0	0	1	0	0	UTR5	UTR5	UTR5	VPS45(NM_007259:c.-237G>A)	VPS45(uc009wlm.1:c.-237G>A,uc001etp.3:c.-237G>A,uc010pbq.2:c.-1024G>A)	ENSG00000136631(ENST00000369130:c.-237G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	127;15|8	Hom;G>A	579;0|20
N	N	-	1	150128425	150128425	C	T	snp	intronic	 	 	 	 	PLEKHO1	Plekho1	ENSG00000023902	pleckstrin homology domain containing O1	chr1:150121373-150136916			Mice homozygous for a null allele exhibit age-dependent increase in bone volume and increased osteoblast activity.		GO:0007520;myoblast fusion;IEA|GO:0008360;regulation of cell shape;IEA|GO:0051451;myoblast migration;IEA|GO:0072673;lamellipodium morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0036195;muscle cell projection membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHO1	https://www.uniprot.org/uniprot/Q53GL0		https://www.ncbi.nlm.nih.gov/omim/?term=608335	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHO1&submit=Quick%0D%691ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHO1	rs1545762	0.766973	0.7066	0.8383	1	0	0	intronic	intronic	intronic	PLEKHO1	PLEKHO1	ENSG00000023902	Na	Na	Na	Na	Na	Na	Het;C>T	1031;65|54	Hom;C>T	3690;0|143
N	N	-	1	150129335	150129335	G	A	snp	intronic	 	 	 	 	PLEKHO1	Plekho1	ENSG00000023902	pleckstrin homology domain containing O1	chr1:150121373-150136916			Mice homozygous for a null allele exhibit age-dependent increase in bone volume and increased osteoblast activity.		GO:0007520;myoblast fusion;IEA|GO:0008360;regulation of cell shape;IEA|GO:0051451;myoblast migration;IEA|GO:0072673;lamellipodium morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0036195;muscle cell projection membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHO1	https://www.uniprot.org/uniprot/Q53GL0		https://www.ncbi.nlm.nih.gov/omim/?term=608335	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHO1&submit=Quick%0D%691ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHO1	rs3208509	0.775958	0.7295	0	1	0	0	intronic	intronic	intronic	PLEKHO1	PLEKHO1	ENSG00000023902	Na	Na	Na	Na	Na	Na	Het;G>A	144;10|7	Hom;G>A	309;0|11
N	N	-	1	150315719	150315726	AAAAAAAT	A	indel	intronic	 	 	 	 	PRPF3	Prpf3	ENSG00000117360	pre-mRNA processing factor 3	chr1:150293925-150325671	The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]	Retinal Diseases	Mice homozygous for a null mutation display embryonic lethality.	mRNA Splicing - Major Pathway	GO:0000244;spliceosomal tri-snRNP complex assembly;IDA|GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;TAS|GO:0008380;RNA splicing;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005829;cytosol;IDA|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IEA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRPF3	https://www.uniprot.org/uniprot/O43395	https://hpo.jax.org/app/browse/search?q=PRPF3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607301	http://www.informatics.jax.org/searchtool/Search.do?query=PRPF3&submit=Quick%0D%4864ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPF3	rs200239014	0.82508	0	0	1	0	0	intronic	intronic	intronic	PRPF3	PRPF3	ENSG00000117360	Na	Na	Na	Na	Na	Na	Het;-AAAAAAT	77;4|3	Hom;-AAAAAAT	379;0|10
N	N	-	1	150526044	150526044	G	C	snp	nonsynonymous SNV	G577C	A193P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	ADAMTSL4	Adamtsl4	ENSG00000143382	ADAMTS like 4	chr1:150521884-150533413	This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]	ECTOPIA LENTIS ET PUPILLAE	 	O-glycosylation of TSR domain-containing proteins	GO:0002064;epithelial cell development;IEA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0036066;protein O-linked fucosylation;TAS|GO:0043065;positive regulation of apoptotic process;IDA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA	GO:0002020;protease binding;IPI|GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL4	https://www.uniprot.org/uniprot/Q6UY14	https://hpo.jax.org/app/browse/search?q=ADAMTSL4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610113	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL4&submit=Quick%0D%8430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL4	rs41317515	0.528355	0.5471	0.5231	0.08	1	12	exonic	exonic	exonic	ADAMTSL4	ADAMTSL4	ENSG00000143382	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P,	ADAMTSL4:uc009wlw.3:exon5:c.G577C:p.A193P,ADAMTSL4:uc001euw.3:exon6:c.G577C:p.A193P,ADAMTSL4:uc001eux.3:exon6:c.G577C:p.A193P,ADAMTSL4:uc010pcg.2:exon5:c.G577C:p.A193P,	ENSG00000143382:ENST00000369038:exon4:c.G577C:p.A193P,ENSG00000143382:ENST00000369039:exon5:c.G577C:p.A193P,ENSG00000143382:ENST00000271643:exon6:c.G577C:p.A193P,ENSG00000143382:ENST00000369041:exon6:c.G577C:p.A193P,	Het;G>C	1467;104|72	Hom;G>C	4179;0|152
N	N	-	1	150528090	150528090	G	GACAC	indel	ncRNA_intronic	 	 	 	 	AL356356.1																		rs10687239	0	0.6075	0.6596	1	0	0	intronic	intronic	ncRNA_intronic	ADAMTSL4	ADAMTSL4	ENSG00000237781	Na	Na	Na	Na	Na	Na	Het;+ACAC	1077;23|29	Hom;+ACAC	1809;0|42
N	N	-	1	150528118	150528118	T	TACAC	indel	ncRNA_intronic	 	 	 	 	AL356356.1																		rs10687240	0.689097	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ADAMTSL4	ADAMTSL4	ENSG00000237781	Na	Na	Na	Na	Na	Na	Het;+ACAC	418;16|12	Hom;+ACAC	842;0|20
N	N	-	1	150528175	150528177	GCA	G	indel	ncRNA_intronic	 	 	 	 	AL356356.1																		rs35233292	0.714657	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ADAMTSL4	ADAMTSL4	ENSG00000237781	Na	Na	Na	Na	Na	Na	Het;-CA	159;4|5	Hom;-CA	233;0|6
N	N	-	1	150531380	150531380	T	C	snp	intronic	 	 	 	 	ADAMTSL4	Adamtsl4	ENSG00000143382	ADAMTS like 4	chr1:150521884-150533413	This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]	ECTOPIA LENTIS ET PUPILLAE	 	O-glycosylation of TSR domain-containing proteins	GO:0002064;epithelial cell development;IEA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0036066;protein O-linked fucosylation;TAS|GO:0043065;positive regulation of apoptotic process;IDA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA	GO:0002020;protease binding;IPI|GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL4	https://www.uniprot.org/uniprot/Q6UY14	https://hpo.jax.org/app/browse/search?q=ADAMTSL4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610113	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL4&submit=Quick%0D%8430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL4	rs11204664	0.524161	0	0	1	0	0	intronic	intronic	intronic	ADAMTSL4	ADAMTSL4	ENSG00000143382	Na	Na	Na	Na	Na	Na	Het;T>C	207;7|9	Hom;T>C	467;0|16
N	N	-	1	150686633	150686633	A	T	snp	intronic	 	 	 	 	HORMAD1	Hormad1	ENSG00000143452	HORMA domain containing 1	chr1:150670536-150693364	This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]		Homozgous mice are infertile because of meiosis arrest associated with impaired synaptonemal-complex formation.		GO:0001824;blastocyst development;ISS|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;ISS|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042138;meiotic DNA double-strand break formation;ISS|GO:0048477;oogenesis;IEA|GO:0051177;meiotic sister chromatid cohesion;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0051598;meiotic recombination checkpoint;ISS|GO:0060629;regulation of homologous chromosome segregation;ISS	GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HORMAD1	https://www.uniprot.org/uniprot/Q86X24		https://www.ncbi.nlm.nih.gov/omim/?term=609824	http://www.informatics.jax.org/searchtool/Search.do?query=HORMAD1&submit=Quick%0D%8448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HORMAD1	rs34593358	0.161941	0.2198	0.2431	1	0	0	intronic	intronic	intronic	HORMAD1	HORMAD1	ENSG00000143452	Na	Na	Na	Na	Na	Na	Het;A>T	207;17|10	Hom;A>T	949;0|35
N	N	-	1	150779401	150779401	G	A	snp	intronic	 	 	 	 	CTSK	Ctsk	ENSG00000143387	cathepsin K	chr1:150768684-150780799	The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]	Alzheimer's disease ; bone density; ovarian cancer; Bone Mineral Density; Type 2 Diabetes| edema | rosiglitazone; Osteoporosis	Mice homozygous for disruptions in this gene survive well and are fertile. They have osteopetrosis, reduced levels of thyroxine and increased pulmonary fibrosis.	RUNX1 regulates transcription of genes involved in differentiation of keratinocytes	GO:0001957;intramembranous ossification;IEA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030574;collagen catabolic process;TAS|GO:0045453;bone resorption;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0036021;endolysosome lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001968;fibronectin binding;IPI|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0043394;proteoglycan binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CTSK	https://www.uniprot.org/uniprot/P43235	https://hpo.jax.org/app/browse/search?q=CTSK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601105	http://www.informatics.jax.org/searchtool/Search.do?query=CTSK&submit=Quick%0D%8432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSK	rs12746973	0.0555112	0	0	1	0	0	intronic	intronic	intronic	CTSK	CTSK	ENSG00000143387	Na	Na	Na	Na	Na	Na	Het;G>A	83;8|7	Hom;G>A	380;0|13
N	N	-	1	150804401	150804402	GA	G	indel	intronic	 	 	 	 	ARNT	Arnt	ENSG00000143437	aryl hydrocarbon receptor nuclear translocator	chr1:150782181-150849244	This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]	Colorectal Neoplasms; bladder cancer; Cleft Lip|Cleft Palate; lung cancer ; pregnancy loss, recurrent; esophageal adenocarcinoma; diabetes, type 2; chronic obstructive pulmonary disease; endometriosis; micropenis; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone; azoospermia infertility, male oligospermia; Parkinson's disease ; lung cancer	Homozygotes for targeted null mutations exhibit loss of aryl hydrocarbon receptor and hypoxia-inducible factor 1 alpha gene induction, defective angiogenesis of the yolk sac and branchial arches, placental defects, and lethality by embryonic day 10.5.	Aryl hydrocarbon receptor signalling	GO:0001666;response to hypoxia;IDA|GO:0001892;embryonic placenta development;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IC|GO:0006351;transcription, DNA-templated;TAS|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030154;cell differentiation;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IC|GO:0033235;positive regulation of protein sumoylation;IEA|GO:0042789;mRNA transcription from RNA polymerase II promoter;IC|GO:0043619;regulation of transcription from RNA polymerase II promoter in response to oxidative stress;IDA|GO:0045648;positive regulation of erythrocyte differentiation;IC|GO:0045821;positive regulation of glycolytic process;IC|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046886;positive regulation of hormone biosynthetic process;IDA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IDA|GO:0003713;transcription coactivator activity;TAS|GO:0004874;aryl hydrocarbon receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0035326;enhancer binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARNT	https://www.uniprot.org/uniprot/P27540		https://www.ncbi.nlm.nih.gov/omim/?term=126110	http://www.informatics.jax.org/searchtool/Search.do?query=ARNT&submit=Quick%0D%8444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARNT	rs34083816	0	0	0.2944	1	0	0	intronic	intronic	intronic	ARNT	ARNT	ENSG00000143437	Na	Na	Na	Na	Na	Na	Het;-A	108;21|15	Hom;-A	657;3|36
N	N	-	1	151500454	151500454	C	T	snp	intronic	 	 	 	 	CGN	Cgn	ENSG00000143375	cingulin	chr1:151482986-151511168		Asthma	Mice homozygous for a knock-out allele exhibit increased sensitivity to the ulcerogenic action of cysteamine.	TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0008150;biological_process;ND	GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;TAS	GO:0003774;motor activity;IEA|GO:0003779;actin binding;ISS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CGN	https://www.uniprot.org/uniprot/Q9P2M7		https://www.ncbi.nlm.nih.gov/omim/?term=609473	http://www.informatics.jax.org/searchtool/Search.do?query=CGN&submit=Quick%0D%8427ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CGN	rs6659042	0	0	0	1	0	0	intronic	intronic	intronic	CGN	CGN	ENSG00000143375	Na	Na	Na	Na	Na	Na	Het;C>T	55;1|2	Hom;C>T	33;0|2
N	N	-	1	151634512	151634512	A	AT	indel	intronic	 	 	 	 	SNX27	Snx27	ENSG00000143376	sorting nexin family member 27	chr1:151584541-151671567	This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c.		GO:0001770;establishment of natural killer cell polarity;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0007165;signal transduction;IEA|GO:0008333;endosome to lysosome transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;IMP|GO:1990126;retrograde transport, endosome to plasma membrane;IMP	GO:0001772;immunological synapse;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IC|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0030904;retromer complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0071203;WASH complex;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNX27	https://www.uniprot.org/uniprot/Q96L92		https://www.ncbi.nlm.nih.gov/omim/?term=611541	http://www.informatics.jax.org/searchtool/Search.do?query=SNX27&submit=Quick%0D%8428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX27	rs3831367	0.448482	0	0	1	0	0	intronic	intronic	intronic	SNX27	SNX27	ENSG00000143376	Na	Na	Na	Na	Na	Na	Het;+T	43;9|4	Hom;+T	438;0|16
N	N	-	1	151634803	151634803	G	A	snp	intronic	 	 	 	 	SNX27	Snx27	ENSG00000143376	sorting nexin family member 27	chr1:151584541-151671567	This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c.		GO:0001770;establishment of natural killer cell polarity;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0007165;signal transduction;IEA|GO:0008333;endosome to lysosome transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;IMP|GO:1990126;retrograde transport, endosome to plasma membrane;IMP	GO:0001772;immunological synapse;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IC|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0030904;retromer complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0071203;WASH complex;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNX27	https://www.uniprot.org/uniprot/Q96L92		https://www.ncbi.nlm.nih.gov/omim/?term=611541	http://www.informatics.jax.org/searchtool/Search.do?query=SNX27&submit=Quick%0D%8428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX27	rs11808761	0.269968	0	0	1	0	0	intronic	intronic	intronic	SNX27	SNX27	ENSG00000143376	Na	Na	Na	Na	Na	Na	Het;G>A	768;38|33	Hom;G>A	2778;0|96
N	N	-	1	151742550	151742556	GGAGAGA	G	indel	intronic	 	 	 	 	OAZ3	Oaz3	ENSG00000143450	ornithine decarboxylase antizyme 3	chr1:151735445-151743808	The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Dec 2014]	infertility, male	Homozygotes for a targeted null mutation exhibit male infertility due to detachment of sperm tail and head during sperm maturation.	Regulation of ornithine decarboxylase (ODC)	GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0006595;polyamine metabolic process;IBA|GO:0006596;polyamine biosynthetic process;IEA|GO:0007283;spermatogenesis;IEA|GO:0015847;putrescine transport;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045732;positive regulation of protein catabolic process;IBA|GO:1902268;negative regulation of polyamine transmembrane transport;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0072562;blood microparticle;IDA	GO:0005515;protein binding;IPI|GO:0008073;ornithine decarboxylase inhibitor activity;IEA|GO:0015489;putrescine transmembrane transporter activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/OAZ3	https://www.uniprot.org/uniprot/Q9UMX2		https://www.ncbi.nlm.nih.gov/omim/?term=605138	http://www.informatics.jax.org/searchtool/Search.do?query=OAZ3&submit=Quick%0D%8447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAZ3	Na	0	0	0	1	0	0	intronic	intronic	intronic	OAZ3	OAZ3	ENSG00000143450	Na	Na	Na	Na	Na	Na	Het;-GAGAGA	390;9|11	Hom;-GAGAGA	1403;0|28
N	N	-	1	151742565	151742588	GGGAGACCATGGGGAGACGGAGAC	G	indel	UTR3	*1658_*1653delinsC	 	 	 	TDRKH	Tdrkh	ENSG00000182134	tudor and KH domain containing	chr1:151742583-151763892		Hemoglobins; Triglycerides; Lipids; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007140;male meiotic nuclear division;ISS|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;ISS|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071546;pi-body;ISS|GO:0071547;piP-body;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRKH			https://www.ncbi.nlm.nih.gov/omim/?term=609501	http://www.informatics.jax.org/searchtool/Search.do?query=TDRKH&submit=Quick%0D%14724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRKH	rs140076465	0	0	0	1	0	0	intronic	UTR3	UTR3	OAZ3	TDRKH(uc001eyy.2:c.*495_*490delinsC)	ENSG00000182134(ENST00000525790:c.*1658_*1653delinsC)	Na	Na	Na	Na	Na	Na	Het;-GGAGACCATGGGGAGACGGAGAC	384;22|13	Hom;-GGAGACCATGGGGAGACGGAGAC	1741;0|43
N	N	-	1	151747043	151747043	C	T	snp	intronic	 	 	 	 	TDRKH	Tdrkh	ENSG00000182134	tudor and KH domain containing	chr1:151742583-151763892		Hemoglobins; Triglycerides; Lipids; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007140;male meiotic nuclear division;ISS|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;ISS|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071546;pi-body;ISS|GO:0071547;piP-body;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRKH			https://www.ncbi.nlm.nih.gov/omim/?term=609501	http://www.informatics.jax.org/searchtool/Search.do?query=TDRKH&submit=Quick%0D%14724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRKH	rs1123855	0.319089	0.4319	0	1	0	0	intronic	intronic	intronic	TDRKH	TDRKH	ENSG00000182134	Na	Na	Na	Na	Na	Na	Het;C>T	182;9|10	Hom;C>T	604;0|22
N	N	-	1	151747733	151747733	C	T	snp	intronic	 	 	 	 	TDRKH	Tdrkh	ENSG00000182134	tudor and KH domain containing	chr1:151742583-151763892		Hemoglobins; Triglycerides; Lipids; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007140;male meiotic nuclear division;ISS|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;ISS|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071546;pi-body;ISS|GO:0071547;piP-body;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRKH			https://www.ncbi.nlm.nih.gov/omim/?term=609501	http://www.informatics.jax.org/searchtool/Search.do?query=TDRKH&submit=Quick%0D%14724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRKH	rs1781421	0.314896	0	0	1	0	0	intronic	intronic	intronic	TDRKH	TDRKH	ENSG00000182134	Na	Na	Na	Na	Na	Na	Het;C>T	101;11|5	Hom;C>T	608;0|20
N	N	-	1	151747799	151747799	G	A	snp	intronic	 	 	 	 	TDRKH	Tdrkh	ENSG00000182134	tudor and KH domain containing	chr1:151742583-151763892		Hemoglobins; Triglycerides; Lipids; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007140;male meiotic nuclear division;ISS|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;ISS|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071546;pi-body;ISS|GO:0071547;piP-body;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRKH			https://www.ncbi.nlm.nih.gov/omim/?term=609501	http://www.informatics.jax.org/searchtool/Search.do?query=TDRKH&submit=Quick%0D%14724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRKH	rs1781419	0.707268	0	0	1	0	0	intronic	intronic	intronic	TDRKH	TDRKH	ENSG00000182134	Na	Na	Na	Na	Na	Na	Het;G>A	151;9|9	Hom;G>A	755;0|24
N	N	-	1	151748425	151748425	C	A	snp	intronic	 	 	 	 	TDRKH	Tdrkh	ENSG00000182134	tudor and KH domain containing	chr1:151742583-151763892		Hemoglobins; Triglycerides; Lipids; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007140;male meiotic nuclear division;ISS|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;ISS|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071546;pi-body;ISS|GO:0071547;piP-body;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRKH			https://www.ncbi.nlm.nih.gov/omim/?term=609501	http://www.informatics.jax.org/searchtool/Search.do?query=TDRKH&submit=Quick%0D%14724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRKH	rs3923394	0.516973	0.6472	0	1	0	0	intronic	intronic	intronic	TDRKH	TDRKH	ENSG00000182134	Na	Na	Na	Na	Na	Na	Het;C>A	138;7|7	Hom;C>A	821;0|27
N	N	-	1	151751081	151751081	G	A	snp	intronic	 	 	 	 	TDRKH	Tdrkh	ENSG00000182134	tudor and KH domain containing	chr1:151742583-151763892		Hemoglobins; Triglycerides; Lipids; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007140;male meiotic nuclear division;ISS|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;ISS|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071546;pi-body;ISS|GO:0071547;piP-body;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRKH			https://www.ncbi.nlm.nih.gov/omim/?term=609501	http://www.informatics.jax.org/searchtool/Search.do?query=TDRKH&submit=Quick%0D%14724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRKH	rs1996729	0.320687	0	0	1	0	0	intronic	intronic	intronic	TDRKH	TDRKH	ENSG00000182134	Na	Na	Na	Na	Na	Na	Het;G>A	65;7|4	Hom;G>A	571;0|20
N	N	-	1	151754112	151754112	T	C	snp	intronic	 	 	 	 	TDRKH	Tdrkh	ENSG00000182134	tudor and KH domain containing	chr1:151742583-151763892		Hemoglobins; Triglycerides; Lipids; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007140;male meiotic nuclear division;ISS|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;ISS|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071546;pi-body;ISS|GO:0071547;piP-body;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRKH			https://www.ncbi.nlm.nih.gov/omim/?term=609501	http://www.informatics.jax.org/searchtool/Search.do?query=TDRKH&submit=Quick%0D%14724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRKH	rs35077383	0.320687	0.4323	0.4252	1	0	0	intronic	intronic	intronic	TDRKH	TDRKH	ENSG00000182134	Na	Na	Na	Na	Na	Na	Het;T>C	221;18|11	Hom;T>C	1267;0|43
N	N	-	1	151780177	151780177	C	T	snp	intronic	 	 	 	 	RORC	Rorc	ENSG00000143365	RAR related orphan receptor C	chr1:151778547-151804348	The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Cell Adhesion Molecules; Lymphedema	Homozygotes for targeted null mutations exhibit lack of peripheral and mesenteric lymph nodes and Peyer's patches, reduced numbers of thymocytes, and increased apoptosis with loss of thymic expression of anti-apoptosic factor Bcl-xL.	RUNX3 Regulates Immune Response and Cell Migration	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006805;xenobiotic metabolic process;ISS|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;IEA|GO:0010906;regulation of glucose metabolic process;ISS|GO:0019218;regulation of steroid metabolic process;ISS|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0036315;cellular response to sterol;IDA|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045598;regulation of fat cell differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0060612;adipose tissue development;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;ISS|GO:0072539;T-helper 17 cell differentiation;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008142;oxysterol binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0098531;transcription factor activity, direct ligand regulated sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RORC	https://www.uniprot.org/uniprot/P51449	https://hpo.jax.org/app/browse/search?q=RORC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602943	http://www.informatics.jax.org/searchtool/Search.do?query=RORC&submit=Quick%0D%8421ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RORC	rs3828057	0.285144	0	0	1	0	0	intronic	intronic	intronic	RORC	RORC	ENSG00000143365	Na	Na	Na	Na	Na	Na	Het;C>T	148;19|9	Hom;C>T	536;0|19
N	N	-	1	152185774	152185774	A	G	snp	synonymous SNV	T8331C	S2777S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HRNR		ENSG00000197915	hornerin	chr1:152184558-152196669		Dermatitis, Atopic|		Neutrophil degranulation	GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP	GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HRNR			https://www.ncbi.nlm.nih.gov/omim/?term=616293	http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR	rs61814932	0.556909	0	0.6679	1	0	0	exonic	exonic	exonic	HRNR	HRNR	ENSG00000197915	synonymous SNV	synonymous SNV	synonymous SNV	HRNR:NM_001009931:exon3:c.T8331C:p.S2777S,	HRNR:uc001ezt.2:exon3:c.T8331C:p.S2777S,	ENSG00000197915:ENST00000368801:exon3:c.T8331C:p.S2777S,	Het;A>G	1059;2|23	Hom;A>G	1052;0|21
N	N	-	1	152185780	152185780	G	A	snp	synonymous SNV	C8325T	H2775H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	HRNR		ENSG00000197915	hornerin	chr1:152184558-152196669		Dermatitis, Atopic|		Neutrophil degranulation	GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP	GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HRNR			https://www.ncbi.nlm.nih.gov/omim/?term=616293	http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR	rs41266116	0	0	0.6020	1	0	0	exonic	exonic	exonic	HRNR	HRNR	ENSG00000197915	synonymous SNV	synonymous SNV	synonymous SNV	HRNR:NM_001009931:exon3:c.C8325T:p.H2775H,	HRNR:uc001ezt.2:exon3:c.C8325T:p.H2775H,	ENSG00000197915:ENST00000368801:exon3:c.C8325T:p.H2775H,	Het;G>A	932;2|19	Hom;G>A	872;0|17
N	N	-	1	152185790	152185790	T	C	snp	nonsynonymous SNV	A8315G	H2772R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	HRNR		ENSG00000197915	hornerin	chr1:152184558-152196669		Dermatitis, Atopic|		Neutrophil degranulation	GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP	GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HRNR			https://www.ncbi.nlm.nih.gov/omim/?term=616293	http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR	rs76102381	0.322883	0	0.3570	0.08	1	12	exonic	exonic	exonic	HRNR	HRNR	ENSG00000197915	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A8315G:p.H2772R,	HRNR:uc001ezt.2:exon3:c.A8315G:p.H2772R,	ENSG00000197915:ENST00000368801:exon3:c.A8315G:p.H2772R,	Het;T>C	596;2|14	Hom;T>C	647;0|14
N	N	-	1	152185792	152185792	G	A	snp	synonymous SNV	C8313T	S2771S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HRNR		ENSG00000197915	hornerin	chr1:152184558-152196669		Dermatitis, Atopic|		Neutrophil degranulation	GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP	GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HRNR			https://www.ncbi.nlm.nih.gov/omim/?term=616293	http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR	rs74493243	0.322883	0	0.2438	1	0	0	exonic	exonic	exonic	HRNR	HRNR	ENSG00000197915	synonymous SNV	synonymous SNV	synonymous SNV	HRNR:NM_001009931:exon3:c.C8313T:p.S2771S,	HRNR:uc001ezt.2:exon3:c.C8313T:p.S2771S,	ENSG00000197915:ENST00000368801:exon3:c.C8313T:p.S2771S,	Het;G>A	554;2|13	Hom;G>A	602;0|13
N	N	-	1	152185796	152185796	A	G	snp	nonsynonymous SNV	T8309C	L2770P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	HRNR		ENSG00000197915	hornerin	chr1:152184558-152196669		Dermatitis, Atopic|		Neutrophil degranulation	GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP	GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HRNR			https://www.ncbi.nlm.nih.gov/omim/?term=616293	http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR	rs41266118	0.322883	0	0.0893	0.08	1	12	exonic	exonic	exonic	HRNR	HRNR	ENSG00000197915	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T8309C:p.L2770P,	HRNR:uc001ezt.2:exon3:c.T8309C:p.L2770P,	ENSG00000197915:ENST00000368801:exon3:c.T8309C:p.L2770P,	Het;A>G	512;2|12	Hom;A>G	512;0|11
N	N	-	1	152552461	152552461	C	A	snp	intronic	 	 	 	 	LCE3D		ENSG00000163202	late cornified envelope 3D	chr1:152551857-152552980		Psoriasis; psoriasis		Formation of the cornified envelope	GO:0008544;epidermis development;IEA|GO:0018149;peptide cross-linking;IBA|GO:0030216;keratinocyte differentiation;IBA|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0005198;structural molecule activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/LCE3D			https://www.ncbi.nlm.nih.gov/omim/?term=612616	http://www.informatics.jax.org/searchtool/Search.do?query=LCE3D&submit=Quick%0D%10903ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCE3D	rs4845313	0.232228	0.2147	0.2798	1	0	0	intronic	intronic	intronic	LCE3D	LCE3D	ENSG00000163202	Na	Na	Na	Na	Na	Na	Het;C>A	489;59|27	Hom;C>A	1992;0|72
N	N	-	1	152732106	152732106	A	T	snp	nonsynonymous SNV	A42T	Q14H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	KPRP	Kprp	ENSG00000203786	keratinocyte proline rich protein	chr1:152730506-152734529	This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]		 			GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KPRP			https://www.ncbi.nlm.nih.gov/omim/?term=613260	http://www.informatics.jax.org/searchtool/Search.do?query=KPRP&submit=Quick%0D%17142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KPRP	rs17612167	0.177117	0.1682	0.2249	0.20	2	10	exonic	exonic	exonic	KPRP	KPRP	ENSG00000203786	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.A42T:p.Q14H,	KPRP:uc021ozf.1:exon1:c.A42T:p.Q14H,KPRP:uc001fal.1:exon2:c.A42T:p.Q14H,	ENSG00000203786:ENST00000606109:exon1:c.A42T:p.Q14H,ENSG00000203786:ENST00000368773:exon2:c.A42T:p.Q14H,	Het;A>T	2298;96|106	Hom;A>T	4996;0|182
N	N	-	1	153197786	153197786	C	T	snp	ncRNA_exonic	 	 	 	 	AL161636.2																		rs943134	0.29373	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PRR9(dist=5993),LOR(dist=34393)	Mir_584(dist=2601),LOR(dist=34393)	ENSG00000230779	Na	Na	Na	Na	Na	Na	Het;C>T	145;9|8	Hom;C>T	358;0|13
N	N	-	1	153585584	153585584	G	A	snp	upstream	 	 	 	 	S100A16	S100a16	ENSG00000188643	S100 calcium binding protein A16	chr1:153579362-153585621			 		GO:0051592;response to calcium ion;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/S100A16			https://www.ncbi.nlm.nih.gov/omim/?term=617437	http://www.informatics.jax.org/searchtool/Search.do?query=S100A16&submit=Quick%0D%16075ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A16	rs9700179	0.399161	0	0	1	0	0	upstream	upstream	upstream	S100A16	S100A16	ENSG00000188643	Na	Na	Na	Na	Na	Na	Het;G>A	1052;35|50	Hom;G>A	2035;0|76
N	N	-	1	153587256	153587256	A	T	snp	UTR3	*105T>A	 	 	 	S100A14	S100a14	ENSG00000189334	S100 calcium binding protein A14	chr1:153586731-153589462	This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]	Dermatitis, Atopic|	 		GO:0006915;apoptotic process;IEA|GO:0032496;response to lipopolysaccharide;IEP|GO:0034142;toll-like receptor 4 signaling pathway;IDA|GO:0042742;defense response to bacterium;IEP|GO:0055074;calcium ion homeostasis;NAS|GO:0071624;positive regulation of granulocyte chemotaxis;IDA|GO:0090026;positive regulation of monocyte chemotaxis;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0042379;chemokine receptor binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/S100A14			https://www.ncbi.nlm.nih.gov/omim/?term=607986	http://www.informatics.jax.org/searchtool/Search.do?query=S100A14&submit=Quick%0D%16225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A14	rs11548102	0.422724	0	0	1	0	0	UTR3	UTR3	UTR3	S100A14(NM_020672:c.*105T>A)	S100A14(uc001fce.3:c.*105T>A)	ENSG00000189334(ENST00000368702:c.*105T>A,ENST00000368701:c.*105T>A,ENST00000476873:c.*105T>A,ENST00000344616:c.*105T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	351;27|17	Hom;A>T	908;0|34
N	N	-	1	153587308	153587308	C	T	snp	UTR3	*53G>A	 	 	 	S100A14	S100a14	ENSG00000189334	S100 calcium binding protein A14	chr1:153586731-153589462	This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]	Dermatitis, Atopic|	 		GO:0006915;apoptotic process;IEA|GO:0032496;response to lipopolysaccharide;IEP|GO:0034142;toll-like receptor 4 signaling pathway;IDA|GO:0042742;defense response to bacterium;IEP|GO:0055074;calcium ion homeostasis;NAS|GO:0071624;positive regulation of granulocyte chemotaxis;IDA|GO:0090026;positive regulation of monocyte chemotaxis;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0042379;chemokine receptor binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/S100A14			https://www.ncbi.nlm.nih.gov/omim/?term=607986	http://www.informatics.jax.org/searchtool/Search.do?query=S100A14&submit=Quick%0D%16225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A14	rs11548104	0.662141	0	0	1	0	0	UTR3	UTR3	UTR3	S100A14(NM_020672:c.*53G>A)	S100A14(uc001fce.3:c.*53G>A)	ENSG00000189334(ENST00000368702:c.*53G>A,ENST00000368701:c.*53G>A,ENST00000476873:c.*53G>A,ENST00000344616:c.*53G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1031;39|48	Hom;C>T	2672;0|102
N	N	-	1	153588208	153588208	G	A	snp	intronic	 	 	 	 	S100A14	S100a14	ENSG00000189334	S100 calcium binding protein A14	chr1:153586731-153589462	This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]	Dermatitis, Atopic|	 		GO:0006915;apoptotic process;IEA|GO:0032496;response to lipopolysaccharide;IEP|GO:0034142;toll-like receptor 4 signaling pathway;IDA|GO:0042742;defense response to bacterium;IEP|GO:0055074;calcium ion homeostasis;NAS|GO:0071624;positive regulation of granulocyte chemotaxis;IDA|GO:0090026;positive regulation of monocyte chemotaxis;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0042379;chemokine receptor binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/S100A14			https://www.ncbi.nlm.nih.gov/omim/?term=607986	http://www.informatics.jax.org/searchtool/Search.do?query=S100A14&submit=Quick%0D%16225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A14	rs9792963	0.422324	0	0	1	0	0	intronic	intronic	intronic	S100A14	S100A14	ENSG00000189334	Na	Na	Na	Na	Na	Na	Het;G>A	253;9|13	Hom;G>A	494;0|18
N	N	-	1	153588279	153588279	G	A	snp	intronic	 	 	 	 	S100A14	S100a14	ENSG00000189334	S100 calcium binding protein A14	chr1:153586731-153589462	This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]	Dermatitis, Atopic|	 		GO:0006915;apoptotic process;IEA|GO:0032496;response to lipopolysaccharide;IEP|GO:0034142;toll-like receptor 4 signaling pathway;IDA|GO:0042742;defense response to bacterium;IEP|GO:0055074;calcium ion homeostasis;NAS|GO:0071624;positive regulation of granulocyte chemotaxis;IDA|GO:0090026;positive regulation of monocyte chemotaxis;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0042379;chemokine receptor binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/S100A14			https://www.ncbi.nlm.nih.gov/omim/?term=607986	http://www.informatics.jax.org/searchtool/Search.do?query=S100A14&submit=Quick%0D%16225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A14	rs9792967	0.422324	0.3716	0.4797	1	0	0	intronic	intronic	intronic	S100A14	S100A14	ENSG00000189334	Na	Na	Na	Na	Na	Na	Het;G>A	977;27|47	Hom;G>A	1489;0|56
N	N	-	1	153591652	153591652	G	A	snp	intronic	 	 	 	 	S100A13	S100a13	ENSG00000189171	S100 calcium binding protein A13	chr1:153591263-153606568	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IEA|GO:0015031;protein transport;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043303;mast cell degranulation;NAS|GO:0046688;response to copper ion;IEA|GO:0050663;cytokine secretion;IMP|GO:0050703;interleukin-1 alpha secretion;IDA|GO:0051602;response to electrical stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0042629;mast cell granule;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0008289;lipid binding;IEA|GO:0017134;fibroblast growth factor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0050786;RAGE receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/S100A13			https://www.ncbi.nlm.nih.gov/omim/?term=601989	http://www.informatics.jax.org/searchtool/Search.do?query=S100A13&submit=Quick%0D%16198ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A13	rs9726753	0.421925	0	0	1	0	0	intronic	intronic	intronic	S100A13	S100A13	ENSG00000189171	Na	Na	Na	Na	Na	Na	Het;G>A	166;5|7	Hom;G>A	276;0|9
N	N	-	1	153602861	153602861	G	C	snp	ncRNA_intronic	 	 	 	 	AL162258.1																		rs3790411	0.607827	0	0	1	0	0	intronic	intronic	ncRNA_intronic	S100A1,S100A13	S100A1,S100A13	ENSG00000271853	Na	Na	Na	Na	Na	Na	Het;G>C	139;5|5	Hom;G>C	388;0|11
N	N	-	1	153604112	153604112	G	A	snp	ncRNA_exonic	 	 	 	 	AL162258.2																		rs1046381	0.588259	0	0	1	0	0	intronic	intronic	ncRNA_exonic	S100A1,S100A13	S100A1,S100A13	ENSG00000272030	Na	Na	Na	Na	Na	Na	Het;G>A	210;3|9	Hom;G>A	223;0|8
N	N	-	1	153604422	153604422	T	C	snp	UTR3	*105T>C	 	 	 	S100A1	S100a1	ENSG00000160678	S100 calcium binding protein A1	chr1:153600402-153604513	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]	Dermatitis, Atopic|; breast cancer	Homozygous and heterozygous mice exhibit a reduced cardiac contractility in response to chronic hemodynamic stress.	Regulation of TLR by endogenous ligand	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0008016;regulation of heart contraction;IEA|GO:0021762;substantia nigra development;IEP|GO:0035556;intracellular signal transduction;NAS|GO:1901387;positive regulation of voltage-gated calcium channel activity;IEA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030018;Z disc;IEA|GO:0031430;M band;IEA|GO:0031672;A band;IEA|GO:0031674;I band;IEA|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;NAS	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0044548;S100 protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/S100A1			https://www.ncbi.nlm.nih.gov/omim/?term=176940	http://www.informatics.jax.org/searchtool/Search.do?query=S100A1&submit=Quick%0D%10489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A1	rs1128894	0.621206	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	S100A1(NM_006271:c.*105T>C)	S100A1(uc001fck.1:c.*105T>C)	ENSG00000271853,ENSG00000272030	Na	Na	Na	Na	Na	Na	Het;T>C	112;1|5	Hom;T>C	198;0|6
N	N	-	1	153634058	153634058	G	T	snp	UTR3	*281G>T	 	 	 	SNAPIN	Snapin	ENSG00000143553	SNAP associated protein	chr1:153631130-153634306	The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]		Homozygous mice die shortly after birth.  No obvious brain morphological abnormalities are seen.  Calcium-dependent exocytosis in adrenal chromaffin cells is reduced due to a reduced number of secretory vesicles in releasable pools.	Golgi Associated Vesicle Biogenesis	GO:0006886;intracellular protein transport;TAS|GO:0006887;exocytosis;IEA|GO:0007040;lysosome organization;IEA|GO:0007042;lysosomal lumen acidification;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0008089;anterograde axonal transport;IEA|GO:0008090;retrograde axonal transport;IEA|GO:0008333;endosome to lysosome transport;IGI|GO:0010977;negative regulation of neuron projection development;IEA|GO:0016032;viral process;IEA|GO:0016079;synaptic vesicle exocytosis;IDA|GO:0016188;synaptic vesicle maturation;IEA|GO:0031175;neuron projection development;ISS|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IEA|GO:0032418;lysosome localization;IMP|GO:0032438;melanosome organization;NAS|GO:0034629;cellular protein complex localization;IEA|GO:0043393;regulation of protein binding;IMP|GO:0048489;synaptic vesicle transport;IMP|GO:0048490;anterograde synaptic vesicle transport;IEA|GO:0051604;protein maturation;IEA|GO:0072553;terminal button organization;IEA|GO:0097352;autophagosome maturation;IEA|GO:1902774;late endosome to lysosome transport;IEA|GO:1902824;positive regulation of late endosome to lysosome transport;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IEA|GO:0008021;synaptic vesicle;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031083;BLOC-1 complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0099078;BORC complex;IDA|GO:1904115;axon cytoplasm;IEA	GO:0000149;SNARE binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNAPIN	https://www.uniprot.org/uniprot/O95295		https://www.ncbi.nlm.nih.gov/omim/?term=607007	http://www.informatics.jax.org/searchtool/Search.do?query=SNAPIN&submit=Quick%0D%8473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAPIN	rs7345	0.675519	0	0	1	0	0	UTR3	UTR3	UTR3	SNAPIN(NM_012437:c.*281G>T)	SNAPIN(uc001fcq.4:c.*281G>T)	ENSG00000143553(ENST00000368685:c.*281G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	909;42|41	Hom;G>T	2360;0|87
N	N	-	1	153635425	153635425	G	A	snp	intronic	 	 	 	 	ILF2	Ilf2	ENSG00000143621	interleukin enhancer binding factor 2	chr1:153634512-153643524	The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]		Mice homozygous for a knock-out allele exhibit embryonic lethality.	Neutrophil degranulation	GO:0006351;transcription, DNA-templated;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006955;immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILF2	https://www.uniprot.org/uniprot/Q12905		https://www.ncbi.nlm.nih.gov/omim/?term=603181	http://www.informatics.jax.org/searchtool/Search.do?query=ILF2&submit=Quick%0D%8485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF2	rs3795396	0.647564	0	0	1	0	0	intronic	intronic	intronic	ILF2	ILF2	ENSG00000143621	Na	Na	Na	Na	Na	Na	Het;G>A	241;7|9	Hom;G>A	352;0|11
N	N	-	1	153636860	153636860	A	G	snp	intronic	 	 	 	 	ILF2	Ilf2	ENSG00000143621	interleukin enhancer binding factor 2	chr1:153634512-153643524	The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]		Mice homozygous for a knock-out allele exhibit embryonic lethality.	Neutrophil degranulation	GO:0006351;transcription, DNA-templated;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006955;immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILF2	https://www.uniprot.org/uniprot/Q12905		https://www.ncbi.nlm.nih.gov/omim/?term=603181	http://www.informatics.jax.org/searchtool/Search.do?query=ILF2&submit=Quick%0D%8485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF2	rs4351684	0.651158	0.5827	0.5939	1	0	0	intronic	intronic	intronic	ILF2	ILF2	ENSG00000143621	Na	Na	Na	Na	Na	Na	Het;A>G	1183;71|61	Hom;A>G	3594;2|131
N	N	-	1	153637617	153637617	G	A	snp	intronic	 	 	 	 	ILF2	Ilf2	ENSG00000143621	interleukin enhancer binding factor 2	chr1:153634512-153643524	The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]		Mice homozygous for a knock-out allele exhibit embryonic lethality.	Neutrophil degranulation	GO:0006351;transcription, DNA-templated;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006955;immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILF2	https://www.uniprot.org/uniprot/Q12905		https://www.ncbi.nlm.nih.gov/omim/?term=603181	http://www.informatics.jax.org/searchtool/Search.do?query=ILF2&submit=Quick%0D%8485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF2	rs3862047	0.470048	0	0	1	0	0	intronic	intronic	intronic	ILF2	ILF2	ENSG00000143621	Na	Na	Na	Na	Na	Na	Het;G>A	378;11|15	Hom;G>A	432;1|14
N	N	-	1	153656352	153656352	T	G	snp	intronic	 	 	 	 	NPR1	Npr1	ENSG00000169418	natriuretic peptide receptor 1	chr1:153651113-153666468	Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]	Hypertension; Ventricular Dysfunction; several psychiatric disorders; Coronary Artery Disease|Myocardial Infarction; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; left ventricular mass ventricular remodeling; Carotid artery stenosis|Carotid Stenosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hypertension; myocardial infarct; Heart Diseases; glaucoma; hypertension; cardiovascular disease; null	Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury.	Physiological factors	GO:0006182;cGMP biosynthetic process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007168;receptor guanylyl cyclase signaling pathway;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007589;body fluid secretion;TAS|GO:0008217;regulation of blood pressure;NAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030308;negative regulation of cell growth;NAS|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035810;positive regulation of urine volume;TAS|GO:0035815;positive regulation of renal sodium excretion;TAS|GO:0042417;dopamine metabolic process;IEA|GO:0043114;regulation of vascular permeability;TAS|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0050880;regulation of blood vessel size;IEA|GO:0097746;regulation of blood vessel diameter;NAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004383;guanylate cyclase activity;IEA|GO:0004672;protein kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0008528;G-protein coupled peptide receptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0016941;natriuretic peptide receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0042562;hormone binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPR1			https://www.ncbi.nlm.nih.gov/omim/?term=108960	http://www.informatics.jax.org/searchtool/Search.do?query=NPR1&submit=Quick%0D%12490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPR1	rs9662664	0.464257	0.3773	0.4769	1	0	0	intronic	intronic	intronic	NPR1	NPR1	ENSG00000169418	Na	Na	Na	Na	Na	Na	Het;T>G	282;9|13	Hom;T>G	793;0|28
N	N	-	1	153656405	153656405	C	G	snp	intronic	 	 	 	 	NPR1	Npr1	ENSG00000169418	natriuretic peptide receptor 1	chr1:153651113-153666468	Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]	Hypertension; Ventricular Dysfunction; several psychiatric disorders; Coronary Artery Disease|Myocardial Infarction; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; left ventricular mass ventricular remodeling; Carotid artery stenosis|Carotid Stenosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hypertension; myocardial infarct; Heart Diseases; glaucoma; hypertension; cardiovascular disease; null	Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury.	Physiological factors	GO:0006182;cGMP biosynthetic process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007168;receptor guanylyl cyclase signaling pathway;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007589;body fluid secretion;TAS|GO:0008217;regulation of blood pressure;NAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030308;negative regulation of cell growth;NAS|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035810;positive regulation of urine volume;TAS|GO:0035815;positive regulation of renal sodium excretion;TAS|GO:0042417;dopamine metabolic process;IEA|GO:0043114;regulation of vascular permeability;TAS|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0050880;regulation of blood vessel size;IEA|GO:0097746;regulation of blood vessel diameter;NAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004383;guanylate cyclase activity;IEA|GO:0004672;protein kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0008528;G-protein coupled peptide receptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0016941;natriuretic peptide receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0042562;hormone binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPR1			https://www.ncbi.nlm.nih.gov/omim/?term=108960	http://www.informatics.jax.org/searchtool/Search.do?query=NPR1&submit=Quick%0D%12490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPR1	rs9661993	0.673522	0	0	1	0	0	intronic	intronic	intronic	NPR1	NPR1	ENSG00000169418	Na	Na	Na	Na	Na	Na	Het;C>G	32;6|2	Hom;C>G	548;0|15
N	N	-	1	153660514	153660515	AC	A	indel	intronic	 	 	 	 	NPR1	Npr1	ENSG00000169418	natriuretic peptide receptor 1	chr1:153651113-153666468	Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]	Hypertension; Ventricular Dysfunction; several psychiatric disorders; Coronary Artery Disease|Myocardial Infarction; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; left ventricular mass ventricular remodeling; Carotid artery stenosis|Carotid Stenosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hypertension; myocardial infarct; Heart Diseases; glaucoma; hypertension; cardiovascular disease; null	Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury.	Physiological factors	GO:0006182;cGMP biosynthetic process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007168;receptor guanylyl cyclase signaling pathway;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007589;body fluid secretion;TAS|GO:0008217;regulation of blood pressure;NAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030308;negative regulation of cell growth;NAS|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035810;positive regulation of urine volume;TAS|GO:0035815;positive regulation of renal sodium excretion;TAS|GO:0042417;dopamine metabolic process;IEA|GO:0043114;regulation of vascular permeability;TAS|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0050880;regulation of blood vessel size;IEA|GO:0097746;regulation of blood vessel diameter;NAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004383;guanylate cyclase activity;IEA|GO:0004672;protein kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0008528;G-protein coupled peptide receptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0016941;natriuretic peptide receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0042562;hormone binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPR1			https://www.ncbi.nlm.nih.gov/omim/?term=108960	http://www.informatics.jax.org/searchtool/Search.do?query=NPR1&submit=Quick%0D%12490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPR1	rs11295572	0.470248	0.3944	0.4839	1	0	0	intronic	intronic	intronic	NPR1	NPR1	ENSG00000169418	Na	Na	Na	Na	Na	Na	Het;-C	361;8|15	Hom;-C	522;0|18
N	N	-	1	153661374	153661375	CG	C	indel	intronic	 	 	 	 	NPR1	Npr1	ENSG00000169418	natriuretic peptide receptor 1	chr1:153651113-153666468	Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]	Hypertension; Ventricular Dysfunction; several psychiatric disorders; Coronary Artery Disease|Myocardial Infarction; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; left ventricular mass ventricular remodeling; Carotid artery stenosis|Carotid Stenosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hypertension; myocardial infarct; Heart Diseases; glaucoma; hypertension; cardiovascular disease; null	Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury.	Physiological factors	GO:0006182;cGMP biosynthetic process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007168;receptor guanylyl cyclase signaling pathway;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007589;body fluid secretion;TAS|GO:0008217;regulation of blood pressure;NAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030308;negative regulation of cell growth;NAS|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035810;positive regulation of urine volume;TAS|GO:0035815;positive regulation of renal sodium excretion;TAS|GO:0042417;dopamine metabolic process;IEA|GO:0043114;regulation of vascular permeability;TAS|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0050880;regulation of blood vessel size;IEA|GO:0097746;regulation of blood vessel diameter;NAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004383;guanylate cyclase activity;IEA|GO:0004672;protein kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0008528;G-protein coupled peptide receptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0016941;natriuretic peptide receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0042562;hormone binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPR1			https://www.ncbi.nlm.nih.gov/omim/?term=108960	http://www.informatics.jax.org/searchtool/Search.do?query=NPR1&submit=Quick%0D%12490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPR1	rs34402066	0.46865	0	0	1	0	0	intronic	intronic	intronic	NPR1	NPR1	ENSG00000169418	Na	Na	Na	Na	Na	Na	Het;-G	215;8|8	Hom;-G	712;0|20
N	N	-	1	153665919	153665919	T	TC	indel	UTR3	*29T>TC	 	 	 	NPR1	Npr1	ENSG00000169418	natriuretic peptide receptor 1	chr1:153651113-153666468	Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]	Hypertension; Ventricular Dysfunction; several psychiatric disorders; Coronary Artery Disease|Myocardial Infarction; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; left ventricular mass ventricular remodeling; Carotid artery stenosis|Carotid Stenosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hypertension; myocardial infarct; Heart Diseases; glaucoma; hypertension; cardiovascular disease; null	Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury.	Physiological factors	GO:0006182;cGMP biosynthetic process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007168;receptor guanylyl cyclase signaling pathway;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007589;body fluid secretion;TAS|GO:0008217;regulation of blood pressure;NAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030308;negative regulation of cell growth;NAS|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035810;positive regulation of urine volume;TAS|GO:0035815;positive regulation of renal sodium excretion;TAS|GO:0042417;dopamine metabolic process;IEA|GO:0043114;regulation of vascular permeability;TAS|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0050880;regulation of blood vessel size;IEA|GO:0097746;regulation of blood vessel diameter;NAS|GO:1903779;regulation of cardiac conduction;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004383;guanylate cyclase activity;IEA|GO:0004672;protein kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0008528;G-protein coupled peptide receptor activity;NAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0016941;natriuretic peptide receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0042562;hormone binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPR1			https://www.ncbi.nlm.nih.gov/omim/?term=108960	http://www.informatics.jax.org/searchtool/Search.do?query=NPR1&submit=Quick%0D%12490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPR1	rs397745541	0.557508	0.4922	0.5467	1	0	0	UTR3	UTR3	UTR3	NPR1(NM_000906:c.*29T>TC)	NPR1(uc001fcs.4:c.*29T>TC,uc010pdz.2:c.*29T>TC,uc010pea.2:c.*29T>TC)	ENSG00000169418(ENST00000368680:c.*29T>TC)	Na	Na	Na	Na	Na	Na	Het;+C	2539;56|90	Hom;+C	4368;0|132
N	N	-	1	153964396	153964396	C	CAA	indel	intronic	 	 	 	 	RPS27	 	ENSG00000177954	ribosomal protein S27	chr1:153963235-153964626	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S27E family of ribosomal proteins. It contains a C4-type zinc finger domain that can bind to zinc. The encoded protein has been shown to be able to bind to nucleic acid. It is located in the cytoplasm as a ribosomal component, but it has also been detected in the nucleus. Studies in rat indicate that ribosomal protein S27 is located near ribosomal protein S18 in the 40S subunit and is covalently linked to translation initiation factor eIF3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]	DIAMOND-BLACKFAN ANEMIA 17	 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000028;ribosomal small subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0007062;sister chromatid cohesion;TAS|GO:0008283;cell proliferation;NAS|GO:0019083;viral transcription;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003677;DNA binding;NAS|GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPS27		https://hpo.jax.org/app/browse/search?q=RPS27&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603702	http://www.informatics.jax.org/searchtool/Search.do?query=RPS27&submit=Quick%0D%14110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS27	rs34521811	0.682508	0	0	1	0	0	intronic	intronic	intronic	RPS27	RPS27	ENSG00000177954	Na	Na	Na	Na	Na	Na	Het;+AA	1004;3|25	Hom;+AA	1538;0|35
N	N	-	1	154207635	154207635	G	T	snp	intronic	 	 	 	 	UBAP2L	Ubap2l	ENSG00000143569	ubiquitin associated protein 2 like	chr1:154192655-154243986			Mice homozygous for a transgenic gene disruption exhibit decreased female body size and reduced female fertility.		GO:0007339;binding of sperm to zona pellucida;IMP|GO:0010628;positive regulation of gene expression;IBA|GO:0061484;hematopoietic stem cell homeostasis;IGI	GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0005737;cytoplasm;IBA|GO:0031519;PcG protein complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBAP2L	https://www.uniprot.org/uniprot/Q14157		https://www.ncbi.nlm.nih.gov/omim/?term=616472	http://www.informatics.jax.org/searchtool/Search.do?query=UBAP2L&submit=Quick%0D%8476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP2L	rs12023901	0.142971	0.0601	0.1123	1	0	0	intronic	intronic	intronic	UBAP2L	UBAP2L	ENSG00000143569	Na	Na	Na	Na	Na	Na	Het;G>T	135;8|7	Hom;G>T	276;0|11
N	N	-	1	154209169	154209169	A	T	snp	intronic	 	 	 	 	UBAP2L	Ubap2l	ENSG00000143569	ubiquitin associated protein 2 like	chr1:154192655-154243986			Mice homozygous for a transgenic gene disruption exhibit decreased female body size and reduced female fertility.		GO:0007339;binding of sperm to zona pellucida;IMP|GO:0010628;positive regulation of gene expression;IBA|GO:0061484;hematopoietic stem cell homeostasis;IGI	GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0005737;cytoplasm;IBA|GO:0031519;PcG protein complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBAP2L	https://www.uniprot.org/uniprot/Q14157		https://www.ncbi.nlm.nih.gov/omim/?term=616472	http://www.informatics.jax.org/searchtool/Search.do?query=UBAP2L&submit=Quick%0D%8476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP2L	rs3762340	0.136781	0	0	1	0	0	intronic	intronic	intronic	UBAP2L	UBAP2L	ENSG00000143569	Na	Na	Na	Na	Na	Na	Het;A>T	396;11|16	Hom;A>T	1561;0|55
N	N	-	1	154209490	154209490	T	C	snp	intronic	 	 	 	 	UBAP2L	Ubap2l	ENSG00000143569	ubiquitin associated protein 2 like	chr1:154192655-154243986			Mice homozygous for a transgenic gene disruption exhibit decreased female body size and reduced female fertility.		GO:0007339;binding of sperm to zona pellucida;IMP|GO:0010628;positive regulation of gene expression;IBA|GO:0061484;hematopoietic stem cell homeostasis;IGI	GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0005737;cytoplasm;IBA|GO:0031519;PcG protein complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBAP2L	https://www.uniprot.org/uniprot/Q14157		https://www.ncbi.nlm.nih.gov/omim/?term=616472	http://www.informatics.jax.org/searchtool/Search.do?query=UBAP2L&submit=Quick%0D%8476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP2L	rs2274993	0.145367	0.0839	0.1266	1	0	0	intronic	intronic	intronic	UBAP2L	UBAP2L	ENSG00000143569	Na	Na	Na	Na	Na	Na	Het;T>C	421;33|20	Hom;T>C	1508;2|60
N	N	-	1	154245142	154245142	T	G	snp	UTR5	-58T>G	 	 	 	HAX1	Hax1	ENSG00000143575	HCLS1 associated protein X-1	chr1:154244987-154248351	The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Myelodysplastic Syndromes	Mice homozygous for deletion of this gene fail to survive beyond 14 weeks of age.  Apoptosis of neurons in the striatum and cerebellum occurs as does loss of lymphocytes and neutrophiles.		GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030833;regulation of actin filament polymerization;IMP|GO:0030854;positive regulation of granulocyte differentiation;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0042981;regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0071345;cellular response to cytokine stimulus;IMP|GO:1903146;regulation of mitophagy;TAS|GO:1903214;regulation of protein targeting to mitochondrion;TAS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP	GO:0000932;P-body;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005783;endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030027;lamellipodium;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA	GO:0005515;protein binding;IPI|GO:0019966;interleukin-1 binding;IDA|GO:0047485;protein N-terminus binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HAX1	https://www.uniprot.org/uniprot/O00165	https://hpo.jax.org/app/browse/search?q=HAX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605998	http://www.informatics.jax.org/searchtool/Search.do?query=HAX1&submit=Quick%0D%8478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAX1	rs11265425	0.207668	0.2127	0	1	0	0	UTR5	UTR5	UTR5	HAX1(NM_006118:c.-58T>G,NM_001018837:c.-58T>G)	HAX1(uc001fet.3:c.-58T>G,uc001fes.3:c.-58T>G,uc010peo.2:c.-58T>G,uc009wou.3:c.-1017T>G)	ENSG00000143575(ENST00000328703:c.-58T>G,ENST00000457918:c.-58T>G,ENST00000483970:c.-58T>G,ENST00000447768:c.-58T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	1360;66|68	Hom;T>G	2543;1|97
N	N	-	1	154401972	154401972	T	C	snp	intronic	 	 	 	 	IL6R	Il6ra	ENSG00000160712	interleukin 6 receptor	chr1:154377669-154441926	This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]	chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity	Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing.	Interleukin-4 and 13 signaling	GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL6R			https://www.ncbi.nlm.nih.gov/omim/?term=147880	http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R	rs6694817	0.569888	0.6198	0.5713	1	0	0	intronic	intronic	intronic	IL6R	IL6R	ENSG00000160712	Na	Na	Na	Na	Na	Na	Het;T>C	316;14|14	Hom;T>C	846;0|29
N	N	-	1	154407419	154407419	A	C	snp	intronic	 	 	 	 	IL6R	Il6ra	ENSG00000160712	interleukin 6 receptor	chr1:154377669-154441926	This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]	chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity	Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing.	Interleukin-4 and 13 signaling	GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL6R			https://www.ncbi.nlm.nih.gov/omim/?term=147880	http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R	rs7518199	0.327476	0.3482	0.3899	1	0	0	intronic	intronic	intronic	IL6R	IL6R	ENSG00000160712	Na	Na	Na	Na	Na	Na	Het;A>C	659;16|27	Hom;A>C	1273;0|43
N	N	-	1	154407713	154407713	T	C	snp	intronic	 	 	 	 	IL6R	Il6ra	ENSG00000160712	interleukin 6 receptor	chr1:154377669-154441926	This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]	chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity	Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing.	Interleukin-4 and 13 signaling	GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL6R			https://www.ncbi.nlm.nih.gov/omim/?term=147880	http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R	rs7521458	0.30012	0	0	1	0	0	intronic	intronic	intronic	IL6R	IL6R	ENSG00000160712	Na	Na	Na	Na	Na	Na	Het;T>C	183;1|8	Hom;T>C	96;0|4
N	N	-	1	154408340	154408340	T	C	snp	intronic	 	 	 	 	IL6R	Il6ra	ENSG00000160712	interleukin 6 receptor	chr1:154377669-154441926	This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]	chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity	Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing.	Interleukin-4 and 13 signaling	GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL6R			https://www.ncbi.nlm.nih.gov/omim/?term=147880	http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R	rs4845371	0.567492	0	0	1	0	0	intronic	intronic	intronic	IL6R	IL6R	ENSG00000160712	Na	Na	Na	Na	Na	Na	Het;T>C	49;1|3	Hom;T>C	159;0|7
N	N	-	1	154420778	154420778	T	C	snp	intronic	 	 	 	 	IL6R	Il6ra	ENSG00000160712	interleukin 6 receptor	chr1:154377669-154441926	This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]	chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity	Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing.	Interleukin-4 and 13 signaling	GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL6R			https://www.ncbi.nlm.nih.gov/omim/?term=147880	http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R	rs7529229	0.453874	0	0	1	0	0	intronic	intronic	intronic	IL6R	IL6R	ENSG00000160712	Na	Na	Na	Na	Na	Na	Het;T>C	211;1|8	Hom;T>C	214;0|7
N	N	-	1	154426970	154426970	A	C	snp	nonsynonymous SNV	A1073C	D358A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	IL6R	Il6ra	ENSG00000160712	interleukin 6 receptor	chr1:154377669-154441926	This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]	chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity	Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing.	Interleukin-4 and 13 signaling	GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL6R			https://www.ncbi.nlm.nih.gov/omim/?term=147880	http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R	rs2228145	0.293131	0.3169	0.3756	0.15	2	13	exonic	exonic	exonic	IL6R	IL6R	ENSG00000160712	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	IL6R:NM_000565:exon9:c.A1073C:p.D358A,	IL6R:uc001fez.2:exon9:c.A1073C:p.D358A,	ENSG00000160712:ENST00000368485:exon9:c.A1073C:p.D358A,	Het;A>C	934;46|45	Hom;A>C	1774;0|64
N	N	-	1	15442795	15442795	T	C	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs2235788	0.50599	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;T>C	1747;86|78	Hom;T>C	4900;0|161
N	N	-	1	15443476	15443476	C	G	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs2235787	0.497804	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;C>G	1334;82|65	Hom;C>G	3055;1|111
N	N	-	1	15443859	15443859	T	C	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs2235786	0.60603	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;T>C	1395;84|66	Hom;T>C	4984;0|182
N	N	-	1	15443898	15443898	G	A	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs2235785	0.429513	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;G>A	1523;75|71	Hom;G>A	4997;0|188
N	N	-	1	15444288	15444288	C	T	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs2235784	0.60603	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;C>T	1652;79|80	Hom;C>T	3364;0|130
N	N	-	1	15444772	15444772	C	G	snp	ncRNA_intronic	 	 	 	 	TMEM51-AS1																		rs12744957	0.608427	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;C>G	191;4|8	Hom;C>G	772;0|20
N	N	-	1	15444832	15444832	C	T	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs10927679	0.607228	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;C>T	706;33|34	Hom;C>T	1629;0|66
N	N	-	1	15445060	15445060	C	T	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs10927680	0.593051	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;C>T	3312;129|148	Hom;C>T	5853;0|225
N	N	-	1	15445186	15445186	G	A	snp	ncRNA_exonic	 	 	 	 	TMEM51-AS1																		rs10927681	0.604433	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TMEM51-AS1	TMEM51-AS1	ENSG00000175147	Na	Na	Na	Na	Na	Na	Het;G>A	1388;44|54	Hom;G>A	3705;0|129
N	N	-	1	155057499	155057499	A	G	snp	intronic	 	 	 	 	EFNA3	Efna3	ENSG00000143590	ephrin A3	chr1:155036224-155059283	This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit disorganised and elongated dendritic spine of CA1 pyramidal neuron and reduced hippocampal-dependent learning.	EPH-ephrin mediated repulsion of cells	GO:0007267;cell-cell signaling;TAS|GO:0048013;ephrin receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA	GO:0005005;transmembrane-ephrin receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0046875;ephrin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EFNA3	https://www.uniprot.org/uniprot/P52797		https://www.ncbi.nlm.nih.gov/omim/?term=601381	http://www.informatics.jax.org/searchtool/Search.do?query=EFNA3&submit=Quick%0D%8480ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFNA3	rs3766918	0.697883	0	0	1	0	0	intronic	intronic	intronic	EFNA3	EFNA3	ENSG00000143590,ENSG00000251246	Na	Na	Na	Na	Na	Na	Het;A>G	36;3|2	Hom;A>G	112;0|5
N	N	-	1	155142210	155142210	A	G	snp	intronic	 	 	 	 	KRTCAP2	Krtcap2	ENSG00000163463	keratinocyte associated protein 2	chr1:155141884-155145951			 		GO:0006486;protein glycosylation;IEA|GO:0008150;biological_process;ND|GO:0042543;protein N-linked glycosylation via arginine;IMP	GO:0005575;cellular_component;ND|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0008250;oligosaccharyltransferase complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/KRTCAP2				http://www.informatics.jax.org/searchtool/Search.do?query=KRTCAP2&submit=Quick%0D%10970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTCAP2	rs4421576	0.625599	0.5329	0	1	0	0	intronic	intronic	intronic	KRTCAP2	KRTCAP2	ENSG00000163463,ENSG00000273088	Na	Na	Na	Na	Na	Na	Het;A>G	249;15|11	Hom;A>G	197;0|7
N	N	-	1	155142229	155142229	G	A	snp	intronic	 	 	 	 	KRTCAP2	Krtcap2	ENSG00000163463	keratinocyte associated protein 2	chr1:155141884-155145951			 		GO:0006486;protein glycosylation;IEA|GO:0008150;biological_process;ND|GO:0042543;protein N-linked glycosylation via arginine;IMP	GO:0005575;cellular_component;ND|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0008250;oligosaccharyltransferase complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/KRTCAP2				http://www.informatics.jax.org/searchtool/Search.do?query=KRTCAP2&submit=Quick%0D%10970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTCAP2	rs4276914	0.625399	0.5413	0.5798	1	0	0	intronic	intronic	intronic	KRTCAP2	KRTCAP2	ENSG00000163463,ENSG00000273088	Na	Na	Na	Na	Na	Na	Het;G>A	255;19|13	Hom;G>A	272;0|11
N	N	-	1	155162067	155162067	C	T	snp	nonsynonymous SNV	G212A	R71Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MUC1	Muc1	ENSG00000185499	mucin 1, cell surface associated	chr1:155158300-155162707	This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]	Magnesium; Asthma; Carcinoma|Stomach Neoplasms; prostate cancer; respiratory syncytial virus bronchiolitis; Chronic renal failure|Kidney Failure, Chronic; gastritis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Krebs von den Lungen-6 Levels; Dry Eye Syndromes|; gastritis; intestinal metaplasia; Stomach Neoplasms; gastritis, chronic atrophic; metaplasia, intestinal; ovarian cancer; asthma; atopy; Autism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Helicobacter Infections|Stomach Neoplasms; endometrial carcinoma; lung cancer; premalignant oral lesions and oral squamous cell carcinoma; epithelial ovarian cancer ; breast cancer 	Mice homozygous for a knock-out allele display delayed mammary tumor progression, impaired intestinal absorption of cholesterol, decreased gastric mucus accumulation, reduced secretion and accumulation of gallbladder mucin, and decreased susceptibility to cholesterol gallstone formation.	Termination of O-glycan biosynthesis	GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;IDA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0007565;female pregnancy;IEA|GO:0010944;negative regulation of transcription by competitive promoter binding;IDA|GO:0016266;O-glycan processing;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IDA|GO:0036003;positive regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0043618;regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0071300;cellular response to retinoic acid;IEA|GO:0090240;positive regulation of histone H4 acetylation;IDA|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;IDA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0007565;female pregnancy;IEA|GO:0010944;negative regulation of transcription by competitive promoter binding;IDA|GO:0016266;O-glycan processing;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IDA|GO:0036003;positive regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0043618;regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0071300;cellular response to retinoic acid;IEA|GO:0090240;positive regulation of histone H4 acetylation;IDA|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0002039;p53 binding;IPI|GO:0003712;transcription cofactor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC1	https://www.uniprot.org/uniprot/P15941	https://hpo.jax.org/app/browse/search?q=MUC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=158340	http://www.informatics.jax.org/searchtool/Search.do?query=MUC1&submit=Quick%0D%46ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC1	rs4072037	0.628794	0.5724	0.5790	0.25	1	4	exonic	exonic	exonic	MUC1	MUC1	ENSG00000185499	synonymous SNV	nonsynonymous SNV	synonymous SNV	MUC1:NM_001204286:exon2:c.G93A:p.T31T,MUC1:NM_001204293:exon2:c.G66A:p.T22T,MUC1:NM_002456:exon2:c.G66A:p.T22T,MUC1:NM_001204291:exon2:c.G93A:p.T31T,MUC1:NM_001204292:exon2:c.G93A:p.T31T,MUC1:NM_001018016:exon2:c.G93A:p.T31T,MUC1:NM_001044392:exon2:c.G93A:p.T31T,MUC1:NM_001044391:exon2:c.G66A:p.T22T,MUC1:NM_001204289:exon2:c.G93A:p.T31T,MUC1:NM_001204285:exon2:c.G66A:p.T22T,MUC1:NM_001044393:exon2:c.G66A:p.T22T,MUC1:NM_001204296:exon2:c.G93A:p.T31T,MUC1:NM_001204287:exon2:c.G93A:p.T31T,MUC1:NM_001204297:exon2:c.G93A:p.T31T,MUC1:NM_001204288:exon2:c.G93A:p.T31T,MUC1:NM_001204295:exon2:c.G93A:p.T31T,MUC1:NM_001018017:exon2:c.G66A:p.T22T,MUC1:NM_001044390:exon2:c.G66A:p.T22T,MUC1:NM_001204294:exon2:c.G66A:p.T22T,	MUC1:uc010pfh.2:exon2:c.G212A:p.R71Q,MUC1:uc010pff.2:exon1:c.G212A:p.R71Q,MUC1:uc010pfi.2:exon1:c.G212A:p.R71Q,MUC1:uc010pfj.2:exon1:c.G212A:p.R71Q,	ENSG00000185499:ENST00000368393:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368398:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000343256:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368396:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368390:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368395:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000342482:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368392:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000457295:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000337604:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000438413:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000338684:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368389:exon2:c.G66A:p.T22T,	Het;C>T	752;51|37	Hom;C>T	1969;0|71
N	N	-	1	155178782	155178782	A	T	snp	nonsynonymous SNV	A187T	T63S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MTX1	Mtx1	ENSG00000173171	metaxin 1	chr1:155178490-155183615		Acquired Immunodeficiency Syndrome|Disease Progression	 	Cristae formation	GO:0006626;protein targeting to mitochondrion;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MTX1			https://www.ncbi.nlm.nih.gov/omim/?term=600605	http://www.informatics.jax.org/searchtool/Search.do?query=MTX1&submit=Quick%0D%13303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTX1	rs760077	0.666733	0.6294	0.6688	1	0	0	exonic	exonic	exonic	MTX1	MTX1	ENSG00000173171	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MTX1:NM_198883:exon1:c.A187T:p.T63S,MTX1:NM_002455:exon1:c.A187T:p.T63S,	MTX1:uc001fjb.3:exon1:c.A187T:p.T63S,MTX1:uc001fjc.3:exon1:c.A187T:p.T63S,	ENSG00000173171:ENST00000316721:exon1:c.A187T:p.T63S,ENSG00000173171:ENST00000368376:exon1:c.A187T:p.T63S,	Het;A>T	335;32|18	Hom;A>T	1607;0|56
N	N	-	1	155181843	155181843	G	T	snp	ncRNA_intronic	 	 	 	 	AC234582.2																		rs2974935	0.621406	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MTX1	MTX1	ENSG00000236263	Na	Na	Na	Na	Na	Na	Het;G>T	201;9|10	Hom;G>T	127;0|6
N	N	-	1	155184975	155184975	A	G	snp	ncRNA_exonic	 	 	 	 	GBAP1																		rs2990223	0.664537	0	0.6369	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	GBAP1	GBAP1	ENSG00000160766	Na	Na	Na	Na	Na	Na	Het;A>G	1336;68|59	Hom;A>G	3252;0|115
N	N	-	1	15541537	15541537	C	T	snp	UTR5	-47C>T	 	 	 	TMEM51	Tmem51	ENSG00000171729	transmembrane protein 51	chr1:15479028-15546976		Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM51				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM51&submit=Quick%0D%12996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM51	rs3753314	0.857228	0.8133	0.8753	1	0	0	UTR5	UTR5	UTR5	TMEM51(NM_001136217:c.-47C>T,NM_001136216:c.-47C>T,NM_001136218:c.-47C>T,NM_018022:c.-47C>T)	TMEM51(uc001avw.4:c.-47C>T,uc010obk.2:c.-47C>T,uc001avz.3:c.-47C>T,uc001avy.3:c.-47C>T,uc001avx.3:c.-47C>T)	ENSG00000171729(ENST00000428417:c.-47C>T,ENST00000376014:c.-47C>T,ENST00000451326:c.-47C>T,ENST00000400796:c.-47C>T,ENST00000434578:c.-47C>T,ENST00000376008:c.-47C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1497;76|73	Hom;C>T	3576;0|132
N	N	-	1	15546872	15546873	CA	C	indel	UTR3	*633_*634delinsC	 	 	 	TMEM51	Tmem51	ENSG00000171729	transmembrane protein 51	chr1:15479028-15546976		Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM51				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM51&submit=Quick%0D%12996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM51	rs58498052	0.726238	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM51(NM_001136217:c.*633_*634delinsC,NM_001136216:c.*633_*634delinsC,NM_001136218:c.*633_*634delinsC,NM_018022:c.*633_*634delinsC)	TMEM51(uc001avw.4:c.*633_*634delinsC,uc010obk.2:c.*633_*634delinsC,uc001avz.3:c.*983_*984delinsC,uc001avy.3:c.*633_*634delinsC,uc001avx.3:c.*633_*634delinsC)	ENSG00000171729(ENST00000428417:c.*633_*634delinsC,ENST00000400796:c.*633_*634delinsC,ENST00000434578:c.*983_*984delinsC,ENST00000376008:c.*633_*634delinsC)	Na	Na	Na	Na	Na	Na	Het;-A	300;16|23	Hom;-A	932;4|49
N	N	-	1	155746340	155746341	CT	C	indel	intronic	 	 	 	 	GON4L	Gon4l	ENSG00000116580	gon-4 like	chr1:155719508-155829191		Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030183;B cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA	GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GON4L	https://www.uniprot.org/uniprot/Q3T8J9		https://www.ncbi.nlm.nih.gov/omim/?term=610393	http://www.informatics.jax.org/searchtool/Search.do?query=GON4L&submit=Quick%0D%4754ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GON4L	rs551984336	0.829673	0	0	1	0	0	intronic	intronic	intronic	GON4L	GON4L,YY1AP1	ENSG00000116580	Na	Na	Na	Na	Na	Na	Het;-T	152;2|10	Hom;-T	380;1|19
N	N	-	1	155822971	155822971	C	T	snp	intronic	 	 	 	 	GON4L	Gon4l	ENSG00000116580	gon-4 like	chr1:155719508-155829191		Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030183;B cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA	GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GON4L	https://www.uniprot.org/uniprot/Q3T8J9		https://www.ncbi.nlm.nih.gov/omim/?term=610393	http://www.informatics.jax.org/searchtool/Search.do?query=GON4L&submit=Quick%0D%4754ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GON4L	rs822490	0.447883	0	0	1	0	0	intronic	intronic	intronic	GON4L	GON4L	ENSG00000116580	Na	Na	Na	Na	Na	Na	Het;C>T	58;3|3	Hom;C>T	76;0|3
N	N	-	1	155870416	155870416	G	A	snp	intronic	 	 	 	 	RIT1	Rit1	ENSG00000143622	Ras like without CAAX 1	chr1:155867599-155881195	This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]	Conduct Disorder; Conduct disorder (interaction)	Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide.	Signalling to p38 via RIT and RIN	GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIT1	https://www.uniprot.org/uniprot/Q92963	https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609591	http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1	rs1749409	0.779752	0.7934	0.8772	1	0	0	intronic	intronic	intronic	RIT1	RIT1	ENSG00000143622	Na	Na	Na	Na	Na	Na	Het;G>A	634;41|30	Hom;G>A	1125;0|40
N	N	-	1	155880573	155880573	C	G	snp	nonsynonymous SNV	G31C	E11Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	RIT1	Rit1	ENSG00000143622	Ras like without CAAX 1	chr1:155867599-155881195	This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]	Conduct Disorder; Conduct disorder (interaction)	Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide.	Signalling to p38 via RIT and RIN	GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIT1	https://www.uniprot.org/uniprot/Q92963	https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609591	http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1	rs493446	0.779952	0.7952	0.8775	0.11	1	9	exonic	exonic	exonic	RIT1	RIT1	ENSG00000143622	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	RIT1:NM_001256821:exon2:c.G31C:p.E11Q,	RIT1:uc031pqc.1:exon2:c.G31C:p.E11Q,	ENSG00000143622:ENST00000368322:exon2:c.G31C:p.E11Q,	Het;C>G	1727;62|77	Hom;C>G	3047;0|110
N	N	-	1	155880760	155880760	C	CA	indel	intronic	 	 	 	 	RIT1	Rit1	ENSG00000143622	Ras like without CAAX 1	chr1:155867599-155881195	This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]	Conduct Disorder; Conduct disorder (interaction)	Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide.	Signalling to p38 via RIT and RIN	GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIT1	https://www.uniprot.org/uniprot/Q92963	https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609591	http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1	rs79437610	0.754992	0	0	1	0	0	intronic	intronic	intronic	RIT1	RIT1	ENSG00000143622	Na	Na	Na	Na	Na	Na	Het;+A	261;6|9	Hom;+A	442;0|12
N	N	-	1	155904177	155904177	T	C	snp	UTR5	-13A>G	 	 	 	KIAA0907	2810403A07Rik	ENSG00000132680	KIAA0907	chr1:155882834-155904191			 			GO:0005634;nucleus;IBA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIAA0907	https://www.uniprot.org/uniprot/Q7Z7F0			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0907&submit=Quick%0D%6721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0907	rs2275079	0.779553	0.7935	0.8771	1	0	0	UTR5	UTR5	UTR5	KIAA0907(NM_014949:c.-13A>G)	KIAA0907(uc001fmi.1:c.-13A>G,uc001fmj.1:c.-13A>G,uc001fml.1:c.-13A>G,uc001fmm.3:c.-13A>G,uc001fmo.3:c.-13A>G)	ENSG00000132680(ENST00000368321:c.-13A>G,ENST00000368320:c.-13A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	543;48|30	Hom;T>C	1309;0|50
N	N	-	1	155917880	155917880	T	A	snp	intronic	 	 	 	 	ARHGEF2	Arhgef2	ENSG00000116584	Rho/Rac guanine nucleotide exchange factor 2	chr1:155916630-155976861	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]	breast cancer; coronary spastic angina	Mice homozygous for a gene trap allele exhibit impaired response to viral infection.	G alpha (12/13) signalling events	GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS	GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2	https://www.uniprot.org/uniprot/Q92974	https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607560	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2	rs1010033	0.773163	0	0	1	0	0	intronic	intronic	intronic	ARHGEF2	ARHGEF2	ENSG00000116584	Na	Na	Na	Na	Na	Na	Het;T>A	469;9|19	Hom;T>A	862;0|32
N	N	-	1	155928232	155928232	T	C	snp	intronic	 	 	 	 	ARHGEF2	Arhgef2	ENSG00000116584	Rho/Rac guanine nucleotide exchange factor 2	chr1:155916630-155976861	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]	breast cancer; coronary spastic angina	Mice homozygous for a gene trap allele exhibit impaired response to viral infection.	G alpha (12/13) signalling events	GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS	GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2	https://www.uniprot.org/uniprot/Q92974	https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607560	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2	rs2364404	0.773962	0.7874	0.8758	1	0	0	intronic	intronic	intronic	ARHGEF2	ARHGEF2	ENSG00000116584	Na	Na	Na	Na	Na	Na	Het;T>C	1408;26|38	Hom;T>C	2692;0|66
N	N	-	1	155928242	155928242	C	T	snp	intronic	 	 	 	 	ARHGEF2	Arhgef2	ENSG00000116584	Rho/Rac guanine nucleotide exchange factor 2	chr1:155916630-155976861	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]	breast cancer; coronary spastic angina	Mice homozygous for a gene trap allele exhibit impaired response to viral infection.	G alpha (12/13) signalling events	GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS	GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2	https://www.uniprot.org/uniprot/Q92974	https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607560	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2	rs2886069	0.780351	0.8075	0	1	0	0	intronic	intronic	intronic	ARHGEF2	ARHGEF2	ENSG00000116584	Na	Na	Na	Na	Na	Na	Het;C>T	1405;16|35	Hom;C>T	2346;0|52
N	N	-	1	156123230	156123230	C	G	snp	intronic	 	 	 	 	SEMA4A	Sema4a	ENSG00000196189	semaphorin 4A	chr1:156117157-156147543	This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	Retinal Diseases	Homozygotes for a knock-out allele show no obvious brain defects but exhibit impaired T cell priming and defective Th1 responses. Homozygotes for a gene trap allele show severe retinal degeneration with reduced retinal vessels, depigmentation and dysfunction of both rod and cone photoreceptors.	Other semaphorin interactions	GO:0001525;angiogenesis;IEA|GO:0002250;adaptive immune response;IEA|GO:0002292;T cell differentiation involved in immune response;IEA|GO:0002376;immune system process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010594;regulation of endothelial cell migration;IEA|GO:0016525;negative regulation of angiogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0045063;T-helper 1 cell differentiation;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA	GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4A		https://hpo.jax.org/app/browse/search?q=SEMA4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607292	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4A&submit=Quick%0D%16285ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4A	rs3738582	0.313498	0	0	1	0	0	intronic	intronic	intronic	SEMA4A	SEMA4A	ENSG00000196189	Na	Na	Na	Na	Na	Na	Het;C>G	350;19|17	Hom;C>G	283;0|11
N	N	-	1	156354293	156354293	A	G	snp	synonymous SNV	A1089G	S363S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	RHBG	Rhbg	ENSG00000132677	Rh family B glycoprotein (gene/pseudogene)	chr1:156339003-156355011	This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are viable, do not develop hyperammonemic hepatic encephalopathy or distal tubular acidosis, and show a normal renal response to chronic acid-loading and no changes in NH4+ or NH3 entry across the basolateral membrane of cortical collecting ducts cells.	Rhesus glycoproteins mediate ammonium transport.	GO:0006810;transport;IEA|GO:0015695;organic cation transport;IBA|GO:0015696;ammonium transport;IDA|GO:0070634;transepithelial ammonium transport;IDA|GO:0072488;ammonium transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014731;spectrin-associated cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0046658;anchored component of plasma membrane;IMP	GO:0008519;ammonium transmembrane transporter activity;TAS|GO:0030506;ankyrin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RHBG	https://www.uniprot.org/uniprot/Q9H310		https://www.ncbi.nlm.nih.gov/omim/?term=607079	http://www.informatics.jax.org/searchtool/Search.do?query=RHBG&submit=Quick%0D%6720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBG	rs6668731	0.423123	0.3413	0.3200	1	0	0	intronic	intronic	exonic	RHBG	RHBG	ENSG00000132677	Na	Na	synonymous SNV	Na	Na	ENSG00000132677:ENST00000451864:exon8:c.A1089G:p.S363S,	Het;A>G	1106;58|54	Hom;A>G	3784;0|135
N	N	-	1	156354347	156354348	TC	T	indel	frameshift substitution	1057_1058T	 	 	 	RHBG	Rhbg	ENSG00000132677	Rh family B glycoprotein (gene/pseudogene)	chr1:156339003-156355011	This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele are viable, do not develop hyperammonemic hepatic encephalopathy or distal tubular acidosis, and show a normal renal response to chronic acid-loading and no changes in NH4+ or NH3 entry across the basolateral membrane of cortical collecting ducts cells.	Rhesus glycoproteins mediate ammonium transport.	GO:0006810;transport;IEA|GO:0015695;organic cation transport;IBA|GO:0015696;ammonium transport;IDA|GO:0070634;transepithelial ammonium transport;IDA|GO:0072488;ammonium transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014731;spectrin-associated cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0046658;anchored component of plasma membrane;IMP	GO:0008519;ammonium transmembrane transporter activity;TAS|GO:0030506;ankyrin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RHBG	https://www.uniprot.org/uniprot/Q9H310		https://www.ncbi.nlm.nih.gov/omim/?term=607079	http://www.informatics.jax.org/searchtool/Search.do?query=RHBG&submit=Quick%0D%6720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBG	rs11303415	0.422923	0	0.3226	1	0	0	exonic	exonic	exonic;splicing	RHBG	RHBG	ENSG00000132677;ENSG00000132677	nonframeshift substitution	frameshift substitution	frameshift substitution	RHBG:NM_001256396:exon10:c.1174_1174T,RHBG:NM_020407:exon9:c.1264_1264T,RHBG:NM_001256395:exon10:c.1057_1057T,	RHBG:uc031pqn.1:exon10:c.1057_1058T,RHBG:uc010pho.3:exon9:c.1264_1265T,RHBG:uc031pqo.1:exon10:c.1174_1175T,RHBG:uc009wrz.4:exon9:c.1168_1169T,	ENSG00000132677:ENST00000255013:exon10:c.1057_1058T,ENSG00000132677:ENST00000368249:exon9:c.1264_1265T,ENSG00000132677:ENST00000400992:exon9:c.1168_1169T,	Het;-C	1993;95|84	Hom;-C	6221;0|208
N	N	-	1	156707697	156707697	G	A	snp	intronic	 	 	 	 	MRPL24	Mrpl24	ENSG00000143314	mitochondrial ribosomal protein L24	chr1:156707095-156711382	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial translation termination	GO:0006412;translation;IBA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003735;structural constituent of ribosome;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL24	https://www.uniprot.org/uniprot/Q96A35		https://www.ncbi.nlm.nih.gov/omim/?term=611836	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL24&submit=Quick%0D%8406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL24	rs11581044	0.316094	0	0	1	0	0	intronic	intronic	intronic	MRPL24	MRPL24	ENSG00000143314	Na	Na	Na	Na	Na	Na	Het;G>A	54;5|3	Hom;G>A	118;0|5
N	N	-	1	156752048	156752048	C	G	snp	intronic	 	 	 	 	PRCC	Prcc	ENSG00000143294	papillary renal cell carcinoma (translocation-associated)	chr1:156720402-156770607	This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]	RENAL CELL CARCINOMA PAPILLARY 1	 	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0007049;cell cycle;IEA|GO:0007093;mitotic cell cycle checkpoint;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016607;nuclear speck;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRCC	https://www.uniprot.org/uniprot/Q92733	https://hpo.jax.org/app/browse/search?q=PRCC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179755	http://www.informatics.jax.org/searchtool/Search.do?query=PRCC&submit=Quick%0D%8403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRCC	rs2274503	0.645767	0.6257	0.6717	1	0	0	intronic	intronic	intronic	PRCC	PRCC	ENSG00000143294	Na	Na	Na	Na	Na	Na	Het;C>G	706;46|36	Hom;C>G	1946;0|75
N	N	-	1	156752231	156752232	AT	A	indel	intronic	 	 	 	 	PRCC	Prcc	ENSG00000143294	papillary renal cell carcinoma (translocation-associated)	chr1:156720402-156770607	This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]	RENAL CELL CARCINOMA PAPILLARY 1	 	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0007049;cell cycle;IEA|GO:0007093;mitotic cell cycle checkpoint;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016607;nuclear speck;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRCC	https://www.uniprot.org/uniprot/Q92733	https://hpo.jax.org/app/browse/search?q=PRCC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179755	http://www.informatics.jax.org/searchtool/Search.do?query=PRCC&submit=Quick%0D%8403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRCC	rs367770256	0.645767	0	0	1	0	0	intronic	intronic	intronic	PRCC	PRCC	ENSG00000143294	Na	Na	Na	Na	Na	Na	Het;-T	171;7|7	Hom;-T	463;0|14
N	N	-	1	156784982	156784982	T	C	snp	nonsynonymous SNV	A155G	N52S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SH2D2A	Sh2d2a	ENSG00000027869	SH2 domain containing 2A	chr1:156776035-156786654	This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]	Type 2 Diabetes| edema | rosiglitazone; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; rheumatoid arthritis; Celiac Disease|; Multiple Sclerosis; multiple sclerosis	While T cell development is normal, T cell proliferation in response to TCR-mediated activation is impaired in homozygous null mice.	VEGFA-VEGFR2 Pathway	GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH2D2A	https://www.uniprot.org/uniprot/Q9NP31		https://www.ncbi.nlm.nih.gov/omim/?term=604514	http://www.informatics.jax.org/searchtool/Search.do?query=SH2D2A&submit=Quick%0D%720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D2A	rs926103	0.59365	0.5529	0.6612	0.08	1	13	exonic	exonic	exonic	SH2D2A	SH2D2A	ENSG00000027869	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	SH2D2A:NM_001161441:exon3:c.A155G:p.N52S,SH2D2A:NM_001161442:exon3:c.A101G:p.N34S,SH2D2A:NM_003975:exon3:c.A155G:p.N52S,SH2D2A:NM_001161443:exon2:c.A71G:p.N24S,SH2D2A:NM_001161444:exon3:c.A155G:p.N52S,	SH2D2A:uc001fqc.1:exon2:c.A71G:p.N24S,SH2D2A:uc001fqd.2:exon3:c.A155G:p.N52S,SH2D2A:uc009wsh.2:exon3:c.A155G:p.N52S,SH2D2A:uc010phs.1:exon3:c.A155G:p.N52S,SH2D2A:uc001fqe.2:exon3:c.A101G:p.N34S,	ENSG00000027869:ENST00000368199:exon3:c.A155G:p.N52S,ENSG00000027869:ENST00000368198:exon3:c.A101G:p.N34S,ENSG00000027869:ENST00000392306:exon3:c.A155G:p.N52S,	Het;T>C	274;17|10	Hom;T>C	853;0|30
N	N	-	1	156785617	156785617	G	A	snp	UTR5	-5G>A	 	 	 	NTRK1	Ntrk1	ENSG00000198400	neurotrophic receptor tyrosine kinase 1	chr1:156785432-156851642	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]	Neuroblastoma; Alzheimer's disease ; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; Bone Mineral Density; Autism; Hyperparathyroidism, Secondary; several psychiatric disorders; Leukemia, Myeloid, Acute; Hereditary Sensory and Autonomic Neuropathies; Alzheimer's Disease; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.	Signalling to STAT3	GO:0000186;activation of MAPKK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007018;microtubule-based movement;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0007623;circadian rhythm;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0010623;programmed cell death involved in cell development;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0014823;response to activity;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019233;sensory perception of pain;IEA|GO:0021553;olfactory nerve development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035094;response to nicotine;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038179;neurotrophin signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;IMP|GO:0042490;mechanoreceptor differentiation;IEA|GO:0042493;response to drug;IEA|GO:0043068;positive regulation of programmed cell death;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048011;neurotrophin TRK receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048485;sympathetic nervous system development;ISS|GO:0048678;response to axon injury;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060384;innervation;IEA|GO:0060385;axonogenesis involved in innervation;ISS|GO:0061368;behavioral response to formalin induced pain;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071316;cellular response to nicotine;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;ISS|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IEA|GO:0005166;neurotrophin p75 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010465;nerve growth factor receptor activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043121;neurotrophin binding;TAS|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NTRK1		https://hpo.jax.org/app/browse/search?q=NTRK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191315	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK1&submit=Quick%0D%16887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK1	rs1800601	0.636981	0.6177	0.6674	1	0	0	UTR5	UTR5	UTR5	NTRK1(NM_001007792:c.-5G>A)	NTRK1(uc001fqf.1:c.-5G>A,uc009wsi.1:c.-57843G>A)	ENSG00000198400(ENST00000392302:c.-5G>A,ENST00000497019:c.-5G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	321;20|17	Hom;G>A	858;0|34
N	N	-	1	156785762	156785763	AG	A	indel	intronic	 	 	 	 	NTRK1	Ntrk1	ENSG00000198400	neurotrophic receptor tyrosine kinase 1	chr1:156785432-156851642	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]	Neuroblastoma; Alzheimer's disease ; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; Bone Mineral Density; Autism; Hyperparathyroidism, Secondary; several psychiatric disorders; Leukemia, Myeloid, Acute; Hereditary Sensory and Autonomic Neuropathies; Alzheimer's Disease; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.	Signalling to STAT3	GO:0000186;activation of MAPKK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007018;microtubule-based movement;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0007623;circadian rhythm;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0010623;programmed cell death involved in cell development;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0014823;response to activity;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019233;sensory perception of pain;IEA|GO:0021553;olfactory nerve development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035094;response to nicotine;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038179;neurotrophin signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;IMP|GO:0042490;mechanoreceptor differentiation;IEA|GO:0042493;response to drug;IEA|GO:0043068;positive regulation of programmed cell death;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048011;neurotrophin TRK receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048485;sympathetic nervous system development;ISS|GO:0048678;response to axon injury;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060384;innervation;IEA|GO:0060385;axonogenesis involved in innervation;ISS|GO:0061368;behavioral response to formalin induced pain;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071316;cellular response to nicotine;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;ISS|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IEA|GO:0005166;neurotrophin p75 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010465;nerve growth factor receptor activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043121;neurotrophin binding;TAS|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NTRK1		https://hpo.jax.org/app/browse/search?q=NTRK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191315	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK1&submit=Quick%0D%16887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK1	rs11325907	0.580871	0.5368	0.6215	1	0	0	intronic	intronic	intronic	NTRK1,SH2D2A	NTRK1,SH2D2A	ENSG00000027869,ENSG00000198400	Na	Na	Na	Na	Na	Na	Het;-G	1471;42|37	Hom;-G	3653;0|79
N	N	-	1	156785771	156785771	A	G	snp	intronic	 	 	 	 	NTRK1	Ntrk1	ENSG00000198400	neurotrophic receptor tyrosine kinase 1	chr1:156785432-156851642	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]	Neuroblastoma; Alzheimer's disease ; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; Bone Mineral Density; Autism; Hyperparathyroidism, Secondary; several psychiatric disorders; Leukemia, Myeloid, Acute; Hereditary Sensory and Autonomic Neuropathies; Alzheimer's Disease; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.	Signalling to STAT3	GO:0000186;activation of MAPKK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007018;microtubule-based movement;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0007623;circadian rhythm;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0010623;programmed cell death involved in cell development;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0014823;response to activity;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019233;sensory perception of pain;IEA|GO:0021553;olfactory nerve development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035094;response to nicotine;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038179;neurotrophin signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;IMP|GO:0042490;mechanoreceptor differentiation;IEA|GO:0042493;response to drug;IEA|GO:0043068;positive regulation of programmed cell death;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048011;neurotrophin TRK receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048485;sympathetic nervous system development;ISS|GO:0048678;response to axon injury;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060384;innervation;IEA|GO:0060385;axonogenesis involved in innervation;ISS|GO:0061368;behavioral response to formalin induced pain;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071316;cellular response to nicotine;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;ISS|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IEA|GO:0005166;neurotrophin p75 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010465;nerve growth factor receptor activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043121;neurotrophin binding;TAS|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NTRK1		https://hpo.jax.org/app/browse/search?q=NTRK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191315	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK1&submit=Quick%0D%16887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK1	rs7546838	0.616014	0.5762	0.6336	1	0	0	intronic	intronic	intronic	NTRK1,SH2D2A	NTRK1,SH2D2A	ENSG00000027869,ENSG00000198400	Na	Na	Na	Na	Na	Na	Het;A>G	1688;46|43	Hom;A>G	3887;0|87
N	N	-	1	156785779	156785779	G	A	snp	intronic	 	 	 	 	NTRK1	Ntrk1	ENSG00000198400	neurotrophic receptor tyrosine kinase 1	chr1:156785432-156851642	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]	Neuroblastoma; Alzheimer's disease ; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; Bone Mineral Density; Autism; Hyperparathyroidism, Secondary; several psychiatric disorders; Leukemia, Myeloid, Acute; Hereditary Sensory and Autonomic Neuropathies; Alzheimer's Disease; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.	Signalling to STAT3	GO:0000186;activation of MAPKK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007018;microtubule-based movement;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0007623;circadian rhythm;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0010623;programmed cell death involved in cell development;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0014823;response to activity;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019233;sensory perception of pain;IEA|GO:0021553;olfactory nerve development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035094;response to nicotine;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038179;neurotrophin signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;IMP|GO:0042490;mechanoreceptor differentiation;IEA|GO:0042493;response to drug;IEA|GO:0043068;positive regulation of programmed cell death;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048011;neurotrophin TRK receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048485;sympathetic nervous system development;ISS|GO:0048678;response to axon injury;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060384;innervation;IEA|GO:0060385;axonogenesis involved in innervation;ISS|GO:0061368;behavioral response to formalin induced pain;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071316;cellular response to nicotine;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;ISS|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IEA|GO:0005166;neurotrophin p75 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010465;nerve growth factor receptor activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043121;neurotrophin binding;TAS|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NTRK1		https://hpo.jax.org/app/browse/search?q=NTRK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191315	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK1&submit=Quick%0D%16887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK1	rs1800600	0.662939	0.6404	0.6705	1	0	0	intronic	intronic	intronic	NTRK1,SH2D2A	NTRK1,SH2D2A	ENSG00000027869,ENSG00000198400	Na	Na	Na	Na	Na	Na	Het;G>A	1730;50|46	Hom;G>A	4028;0|94
N	N	-	1	156848995	156848995	C	T	snp	synonymous SNV	C1779T	A593A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NTRK1	Ntrk1	ENSG00000198400	neurotrophic receptor tyrosine kinase 1	chr1:156785432-156851642	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]	Neuroblastoma; Alzheimer's disease ; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; Bone Mineral Density; Autism; Hyperparathyroidism, Secondary; several psychiatric disorders; Leukemia, Myeloid, Acute; Hereditary Sensory and Autonomic Neuropathies; Alzheimer's Disease; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.	Signalling to STAT3	GO:0000186;activation of MAPKK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007018;microtubule-based movement;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0007623;circadian rhythm;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0010623;programmed cell death involved in cell development;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0014823;response to activity;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019233;sensory perception of pain;IEA|GO:0021553;olfactory nerve development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035094;response to nicotine;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038179;neurotrophin signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;IMP|GO:0042490;mechanoreceptor differentiation;IEA|GO:0042493;response to drug;IEA|GO:0043068;positive regulation of programmed cell death;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048011;neurotrophin TRK receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048485;sympathetic nervous system development;ISS|GO:0048678;response to axon injury;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060384;innervation;IEA|GO:0060385;axonogenesis involved in innervation;ISS|GO:0061368;behavioral response to formalin induced pain;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071316;cellular response to nicotine;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;ISS|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IEA|GO:0005166;neurotrophin p75 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010465;nerve growth factor receptor activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043121;neurotrophin binding;TAS|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NTRK1		https://hpo.jax.org/app/browse/search?q=NTRK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191315	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK1&submit=Quick%0D%16887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK1	rs6337	0.334065	0.5568	0.5724	1	0	0	exonic	exonic	exonic	NTRK1	NTRK1	ENSG00000198400	synonymous SNV	synonymous SNV	synonymous SNV	NTRK1:NM_001012331:exon14:c.C1869T:p.A623A,NTRK1:NM_002529:exon15:c.C1887T:p.A629A,NTRK1:NM_001007792:exon15:c.C1779T:p.A593A,	NTRK1:uc001fqf.1:exon15:c.C1779T:p.A593A,NTRK1:uc009wsi.1:exon14:c.C984T:p.A328A,NTRK1:uc001fqh.1:exon15:c.C1887T:p.A629A,NTRK1:uc009wsk.1:exon14:c.C1878T:p.A626A,NTRK1:uc001fqi.1:exon14:c.C1869T:p.A623A,	ENSG00000198400:ENST00000392302:exon15:c.C1779T:p.A593A,ENSG00000198400:ENST00000524377:exon15:c.C1887T:p.A629A,ENSG00000198400:ENST00000368196:exon14:c.C1869T:p.A623A,ENSG00000198400:ENST00000358660:exon14:c.C1878T:p.A626A,	Het;C>T	979;32|42	Hom;C>T	1578;4|62
N	N	-	1	156850104	156850104	G	C	snp	intronic	 	 	 	 	NTRK1	Ntrk1	ENSG00000198400	neurotrophic receptor tyrosine kinase 1	chr1:156785432-156851642	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]	Neuroblastoma; Alzheimer's disease ; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; Bone Mineral Density; Autism; Hyperparathyroidism, Secondary; several psychiatric disorders; Leukemia, Myeloid, Acute; Hereditary Sensory and Autonomic Neuropathies; Alzheimer's Disease; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.	Signalling to STAT3	GO:0000186;activation of MAPKK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007018;microtubule-based movement;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0007623;circadian rhythm;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0010623;programmed cell death involved in cell development;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0014823;response to activity;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019233;sensory perception of pain;IEA|GO:0021553;olfactory nerve development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035094;response to nicotine;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038179;neurotrophin signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;IMP|GO:0042490;mechanoreceptor differentiation;IEA|GO:0042493;response to drug;IEA|GO:0043068;positive regulation of programmed cell death;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048011;neurotrophin TRK receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048485;sympathetic nervous system development;ISS|GO:0048678;response to axon injury;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060384;innervation;IEA|GO:0060385;axonogenesis involved in innervation;ISS|GO:0061368;behavioral response to formalin induced pain;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071316;cellular response to nicotine;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;ISS|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IEA|GO:0005166;neurotrophin p75 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010465;nerve growth factor receptor activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043121;neurotrophin binding;TAS|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NTRK1		https://hpo.jax.org/app/browse/search?q=NTRK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191315	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK1&submit=Quick%0D%16887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK1	rs2274499	0.666334	0	0	1	0	0	intronic	intronic	intronic	NTRK1	NTRK1	ENSG00000198400	Na	Na	Na	Na	Na	Na	Het;G>C	209;5|6	Hom;G>C	380;0|11
N	N	-	1	156850112	156850112	T	G	snp	intronic	 	 	 	 	NTRK1	Ntrk1	ENSG00000198400	neurotrophic receptor tyrosine kinase 1	chr1:156785432-156851642	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]	Neuroblastoma; Alzheimer's disease ; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; diabetes, type 2; Bone Mineral Density; Autism; Hyperparathyroidism, Secondary; several psychiatric disorders; Leukemia, Myeloid, Acute; Hereditary Sensory and Autonomic Neuropathies; Alzheimer's Disease; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.	Signalling to STAT3	GO:0000186;activation of MAPKK activity;TAS|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007018;microtubule-based movement;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007568;aging;IEA|GO:0007611;learning or memory;IEA|GO:0007623;circadian rhythm;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009314;response to radiation;IEA|GO:0010623;programmed cell death involved in cell development;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0014823;response to activity;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019233;sensory perception of pain;IEA|GO:0021553;olfactory nerve development;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035094;response to nicotine;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038179;neurotrophin signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;IMP|GO:0042490;mechanoreceptor differentiation;IEA|GO:0042493;response to drug;IEA|GO:0043068;positive regulation of programmed cell death;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048011;neurotrophin TRK receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048485;sympathetic nervous system development;ISS|GO:0048678;response to axon injury;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060384;innervation;IEA|GO:0060385;axonogenesis involved in innervation;ISS|GO:0061368;behavioral response to formalin induced pain;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071316;cellular response to nicotine;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;ISS|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005004;GPI-linked ephrin receptor activity;IEA|GO:0005030;neurotrophin receptor activity;IEA|GO:0005166;neurotrophin p75 receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010465;nerve growth factor receptor activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043121;neurotrophin binding;TAS|GO:0048406;nerve growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NTRK1		https://hpo.jax.org/app/browse/search?q=NTRK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191315	http://www.informatics.jax.org/searchtool/Search.do?query=NTRK1&submit=Quick%0D%16887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NTRK1	rs2274500	0.666733	0	0	1	0	0	intronic	intronic	intronic	NTRK1	NTRK1	ENSG00000198400	Na	Na	Na	Na	Na	Na	Het;T>G	209;5|6	Hom;T>G	291;0|6
N	N	-	1	156875092	156875092	G	A	snp	intronic	 	 	 	 	PEAR1	Pear1	ENSG00000187800	platelet endothelial aggregation receptor 1	chr1:156863490-156886226	PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]	Coronary Artery Disease|; platelet signaling; Platelet Aggregation	Mice homozygous for a knock-out allele show no apparent defects in hemostasis or thrombus formation. Although in vitro dextran sulfate-induced platelet aggregation is impaired, platelet aggregation initiated with physiological agonists is normal.		GO:0043654;recognition of apoptotic cell;IEA|GO:0045746;negative regulation of Notch signaling pathway;IBA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PEAR1			https://www.ncbi.nlm.nih.gov/omim/?term=610278	http://www.informatics.jax.org/searchtool/Search.do?query=PEAR1&submit=Quick%0D%15901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEAR1	rs4661074	0.394968	0.6060	0.6280	1	0	0	intronic	intronic	intronic	PEAR1	PEAR1	ENSG00000187800	Na	Na	Na	Na	Na	Na	Het;G>A	1276;54|35	Hom;G>A	3347;0|75
N	N	-	1	156875097	156875097	G	A	snp	intronic	 	 	 	 	PEAR1	Pear1	ENSG00000187800	platelet endothelial aggregation receptor 1	chr1:156863490-156886226	PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]	Coronary Artery Disease|; platelet signaling; Platelet Aggregation	Mice homozygous for a knock-out allele show no apparent defects in hemostasis or thrombus formation. Although in vitro dextran sulfate-induced platelet aggregation is impaired, platelet aggregation initiated with physiological agonists is normal.		GO:0043654;recognition of apoptotic cell;IEA|GO:0045746;negative regulation of Notch signaling pathway;IBA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PEAR1			https://www.ncbi.nlm.nih.gov/omim/?term=610278	http://www.informatics.jax.org/searchtool/Search.do?query=PEAR1&submit=Quick%0D%15901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEAR1	rs4661075	0.442492	0.6362	0.6444	1	0	0	intronic	intronic	intronic	PEAR1	PEAR1	ENSG00000187800	Na	Na	Na	Na	Na	Na	Het;G>A	1457;59|39	Hom;G>A	3462;0|77
N	N	-	1	156875107	156875107	C	A	snp	intronic	 	 	 	 	PEAR1	Pear1	ENSG00000187800	platelet endothelial aggregation receptor 1	chr1:156863490-156886226	PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]	Coronary Artery Disease|; platelet signaling; Platelet Aggregation	Mice homozygous for a knock-out allele show no apparent defects in hemostasis or thrombus formation. Although in vitro dextran sulfate-induced platelet aggregation is impaired, platelet aggregation initiated with physiological agonists is normal.		GO:0043654;recognition of apoptotic cell;IEA|GO:0045746;negative regulation of Notch signaling pathway;IBA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PEAR1			https://www.ncbi.nlm.nih.gov/omim/?term=610278	http://www.informatics.jax.org/searchtool/Search.do?query=PEAR1&submit=Quick%0D%15901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEAR1	rs2644590	0.391973	0.6026	0.6266	1	0	0	intronic	intronic	intronic	PEAR1	PEAR1	ENSG00000187800	Na	Na	Na	Na	Na	Na	Het;C>A	1438;64|40	Hom;C>A	3591;0|82
N	N	-	1	157256043	157256043	A	C	snp	intergenic	 	 	 	 	AL138900.3																		rs1535982	0.697284	0	0	1	0	0	intergenic	intergenic	intergenic	ETV3(dist=147660),FCRL5(dist=227124)	ETV3(dist=147660),FCRL5(dist=227124)	ENSG00000271736(dist=3185),ENSG00000237189(dist=1450)	Na	Na	Na	Na	Na	Na	Het;A>C	130;2|6	Hom;A>C	187;0|6
N	N	-	1	157599858	157599858	C	T	snp	ncRNA_exonic	 	 	 	 	AL135929.2																		rs2777997	0.540335	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FCRL4(dist=31988),FCRL3(dist=48120)	FCRL4(dist=31988),FCRL3(dist=46413)	ENSG00000236731	Na	Na	Na	Na	Na	Na	Het;C>T	262;7|13	Hom;C>T	291;1|13
N	N	-	1	157918761	157918761	T	C	snp	ncRNA_exonic	 	 	 	 	AL139010.1																		rs3887587	0.370607	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	CD5L(dist=107127),KIRREL(dist=44302)	AK057438	ENSG00000236957	Na	Na	Na	Na	Na	Na	Het;T>C	1230;82|62	Hom;T>C	4921;0|184
N	N	-	1	158054379	158054379	A	G	snp	intronic	 	 	 	 	KIRREL	Kirrel	ENSG00000183853	kirre like nephrin family adhesion molecule 1	chr1:157963063-158070052	NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]	Diabetes Mellitus, Type 1|Diabetic Nephropathies; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome	Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0007411;axon guidance;TAS|GO:0007588;excretion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031295;T cell costimulation;TAS	GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043198;dendritic shaft;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIRREL			https://www.ncbi.nlm.nih.gov/omim/?term=607428	http://www.informatics.jax.org/searchtool/Search.do?query=KIRREL&submit=Quick%0D%15096ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIRREL	rs927662	0.352636	0	0.3617	1	0	0	intronic	intronic	intronic	KIRREL	KIRREL	ENSG00000183853	Na	Na	Na	Na	Na	Na	Het;A>G	846;45|39	Hom;A>G	1885;0|67
N	N	-	1	158057633	158057633	C	G	snp	synonymous SNV	C450G	P150P	hydrophobic,neutral	hydrophobic,neutral	KIRREL	Kirrel	ENSG00000183853	kirre like nephrin family adhesion molecule 1	chr1:157963063-158070052	NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]	Diabetes Mellitus, Type 1|Diabetic Nephropathies; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome	Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0007411;axon guidance;TAS|GO:0007588;excretion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031295;T cell costimulation;TAS	GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043198;dendritic shaft;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIRREL			https://www.ncbi.nlm.nih.gov/omim/?term=607428	http://www.informatics.jax.org/searchtool/Search.do?query=KIRREL&submit=Quick%0D%15096ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIRREL	rs36008419	0.228435	0.2312	0.2156	1	0	0	exonic	exonic	exonic	KIRREL	KIRREL	ENSG00000183853	synonymous SNV	synonymous SNV	synonymous SNV	KIRREL:NM_001286349:exon4:c.C450G:p.P150P,KIRREL:NM_018240:exon6:c.C750G:p.P250P,	KIRREL:uc010pib.2:exon4:c.C450G:p.P150P,KIRREL:uc001fro.4:exon2:c.C144G:p.P48P,KIRREL:uc009wsq.3:exon3:c.C258G:p.P86P,KIRREL:uc001frn.4:exon6:c.C750G:p.P250P,	ENSG00000183853:ENST00000360089:exon4:c.C258G:p.P86P,ENSG00000183853:ENST00000392272:exon4:c.C441G:p.P147P,ENSG00000183853:ENST00000368173:exon6:c.C750G:p.P250P,ENSG00000183853:ENST00000368172:exon2:c.C144G:p.P48P,ENSG00000183853:ENST00000359209:exon6:c.C750G:p.P250P,ENSG00000183853:ENST00000416935:exon4:c.C450G:p.P150P,	Het;C>G	1455;54|69	Hom;C>G	3180;0|118
N	N	-	1	158057691	158057691	A	C	snp	intronic	 	 	 	 	KIRREL	Kirrel	ENSG00000183853	kirre like nephrin family adhesion molecule 1	chr1:157963063-158070052	NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]	Diabetes Mellitus, Type 1|Diabetic Nephropathies; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome	Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0007411;axon guidance;TAS|GO:0007588;excretion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031295;T cell costimulation;TAS	GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043198;dendritic shaft;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIRREL			https://www.ncbi.nlm.nih.gov/omim/?term=607428	http://www.informatics.jax.org/searchtool/Search.do?query=KIRREL&submit=Quick%0D%15096ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIRREL	rs3820676	0.395168	0.4287	0.3479	1	0	0	intronic	intronic	intronic	KIRREL	KIRREL	ENSG00000183853	Na	Na	Na	Na	Na	Na	Het;A>C	1057;37|46	Hom;A>C	1856;0|64
N	N	-	1	158102520	158102520	G	A	snp	ncRNA_intronic	 	 	 	 	LOC646268																		rs4656184	0.28774	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC646268	LOC646268	ENSG00000231666	Na	Na	Na	Na	Na	Na	Het;G>A	61;3|3	Hom;G>A	400;0|12
N	N	-	1	158146946	158146946	T	C	snp	ncRNA_exonic	 	 	 	 	ELL2P1																		rs3021477	0.727636	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC646268(dist=36516),CD1D(dist=2791)	LOC646268(dist=36516),CD1D(dist=2791)	ENSG00000227295	Na	Na	Na	Na	Na	Na	Het;T>C	614;23|25	Hom;T>C	2200;0|77
N	N	-	1	158147699	158147699	A	T	snp	upstream	 	 	 	 	ELL2P1																		rs3021479	0.298323	0	0	1	0	0	intergenic	intergenic	upstream	LOC646268(dist=37269),CD1D(dist=2038)	LOC646268(dist=37269),CD1D(dist=2038)	ENSG00000227295	Na	Na	Na	Na	Na	Na	Het;A>T	142;2|5	Hom;A>T	171;0|6
N	N	-	1	158368315	158368315	G	A	snp	synonymous SNV	C942T	S314S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OR10T2		ENSG00000186306	olfactory receptor family 10 subfamily T member 2	chr1:158368312-158369256	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Narcolepsy		Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR10T2				http://www.informatics.jax.org/searchtool/Search.do?query=OR10T2&submit=Quick%0D%15613ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10T2	rs60530245	0.126198	0.0799	0.1644	1	0	0	exonic	exonic	exonic	OR10T2	OR10T2	ENSG00000186306	synonymous SNV	synonymous SNV	synonymous SNV	OR10T2:NM_001004475:exon1:c.C942T:p.S314S,	OR10T2:uc010pih.2:exon1:c.C942T:p.S314S,	ENSG00000186306:ENST00000334438:exon1:c.C942T:p.S314S,	Het;G>A	402;19|20	Hom;G>A	668;2|24
N	N	-	1	158724537	158724537	T	C	snp	UTR5	-69T>C	 	 	 	OR6K6	Olfr231	ENSG00000180433	olfactory receptor family 6 subfamily K member 6	chr1:158724510-158725681	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR6K6				http://www.informatics.jax.org/searchtool/Search.do?query=OR6K6&submit=Quick%0D%14481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6K6	rs34126693	0.209665	0	0	1	0	0	upstream	upstream	UTR5	OR6K6	OR6K6	ENSG00000180433(ENST00000368144:c.-69T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	111;3|4	Hom;T>C	394;0|11
N	N	-	1	158735595	158735595	C	T	snp	nonsynonymous SNV	G878A	R293H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	OR6N1	Olfr429	ENSG00000197403	olfactory receptor family 6 subfamily N member 1	chr1:158735466-158736492	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR6N1				http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1	rs857824	0.667931	0.7380	0.6795	0.38	5	13	exonic	exonic	exonic	OR6N1	OR6N1	ENSG00000197403	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	OR6N1:NM_001005185:exon1:c.G878A:p.R293H,	OR6N1:uc010piq.2:exon1:c.G878A:p.R293H,	ENSG00000197403:ENST00000335094:exon1:c.G878A:p.R293H,	Het;C>T	487;29|22	Hom;C>T	1800;0|66
N	N	-	1	158735691	158735691	T	C	snp	nonsynonymous SNV	A782G	Q261R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	OR6N1	Olfr429	ENSG00000197403	olfactory receptor family 6 subfamily N member 1	chr1:158735466-158736492	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR6N1				http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1	rs857825	0.667931	0.7380	0.6795	0.23	3	13	exonic	exonic	exonic	OR6N1	OR6N1	ENSG00000197403	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	OR6N1:NM_001005185:exon1:c.A782G:p.Q261R,	OR6N1:uc010piq.2:exon1:c.A782G:p.Q261R,	ENSG00000197403:ENST00000335094:exon1:c.A782G:p.Q261R,	Het;T>C	674;53|31	Hom;T>C	2741;0|95
N	N	-	1	158735740	158735740	A	G	snp	nonsynonymous SNV	T733C	F245L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR6N1	Olfr429	ENSG00000197403	olfactory receptor family 6 subfamily N member 1	chr1:158735466-158736492	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR6N1				http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1	rs857826	0.667931	0.7380	0.6796	0.23	3	13	exonic	exonic	exonic	OR6N1	OR6N1	ENSG00000197403	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	OR6N1:NM_001005185:exon1:c.T733C:p.F245L,	OR6N1:uc010piq.2:exon1:c.T733C:p.F245L,	ENSG00000197403:ENST00000335094:exon1:c.T733C:p.F245L,	Het;A>G	998;43|40	Hom;A>G	3216;0|106
N	N	-	1	158735892	158735892	A	G	snp	nonsynonymous SNV	T581C	I194T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	OR6N1	Olfr429	ENSG00000197403	olfactory receptor family 6 subfamily N member 1	chr1:158735466-158736492	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR6N1				http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1	rs857827	0.667931	0.7380	0.6796	0.15	2	13	exonic	exonic	exonic	OR6N1	OR6N1	ENSG00000197403	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	OR6N1:NM_001005185:exon1:c.T581C:p.I194T,	OR6N1:uc010piq.2:exon1:c.T581C:p.I194T,	ENSG00000197403:ENST00000335094:exon1:c.T581C:p.I194T,	Het;A>G	1345;64|63	Hom;A>G	4319;1|150
N	N	-	1	158736215	158736215	G	A	snp	synonymous SNV	C258T	L86L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR6N1	Olfr429	ENSG00000197403	olfactory receptor family 6 subfamily N member 1	chr1:158735466-158736492	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR6N1				http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1	rs6666753	0.8125	0.8644	0.8701	1	0	0	exonic	exonic	exonic	OR6N1	OR6N1	ENSG00000197403	synonymous SNV	synonymous SNV	synonymous SNV	OR6N1:NM_001005185:exon1:c.C258T:p.L86L,	OR6N1:uc010piq.2:exon1:c.C258T:p.L86L,	ENSG00000197403:ENST00000335094:exon1:c.C258T:p.L86L,	Het;G>A	1640;47|73	Hom;G>A	3249;3|121
N	N	-	1	159163119	159163119	C	T	snp	intronic	 	 	 	 	CADM3	Cadm3	ENSG00000162706	cell adhesion molecule 3	chr1:159141399-159173103	IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM, Mar 2008]	Chemokine CCL2; Monocyte Chemoattractant Protein-1	Mice homozygous for a null allele exhibit delayed myelination. Other mice with ubiquitous conditional deletion of the gene do not display neurological abnormalities.	Nectin/Necl  trans heterodimerization	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0008037;cell recognition;IBA|GO:0008104;protein localization;IEA|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005911;cell-cell junction;ISS|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IBA|GO:0042803;protein homodimerization activity;ISS|GO:0050839;cell adhesion molecule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CADM3			https://www.ncbi.nlm.nih.gov/omim/?term=609743	http://www.informatics.jax.org/searchtool/Search.do?query=CADM3&submit=Quick%0D%10775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CADM3	rs862990	0.835463	0	0	1	0	0	intronic	intronic	intronic	CADM3	CADM3	ENSG00000162706	Na	Na	Na	Na	Na	Na	Het;C>T	286;10|13	Hom;C>T	600;0|17
N	N	-	1	159168044	159168044	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100131825																		rs862995	0.708067	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CADM3-AS1	LOC100131825	ENSG00000225670	Na	Na	Na	Na	Na	Na	Het;G>A	331;13|16	Hom;G>A	649;0|25
N	N	-	1	159169641	159169641	T	C	snp	synonymous SNV	T1053C	L351L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CADM3	Cadm3	ENSG00000162706	cell adhesion molecule 3	chr1:159141399-159173103	IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM, Mar 2008]	Chemokine CCL2; Monocyte Chemoattractant Protein-1	Mice homozygous for a null allele exhibit delayed myelination. Other mice with ubiquitous conditional deletion of the gene do not display neurological abnormalities.	Nectin/Necl  trans heterodimerization	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0008037;cell recognition;IBA|GO:0008104;protein localization;IEA|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005911;cell-cell junction;ISS|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IBA|GO:0042803;protein homodimerization activity;ISS|GO:0050839;cell adhesion molecule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CADM3			https://www.ncbi.nlm.nih.gov/omim/?term=609743	http://www.informatics.jax.org/searchtool/Search.do?query=CADM3&submit=Quick%0D%10775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CADM3	rs862999	0.83107	0.7896	0.7743	1	0	0	exonic	exonic	exonic	CADM3	CADM3	ENSG00000162706	synonymous SNV	synonymous SNV	synonymous SNV	CADM3:NM_021189:exon9:c.T1155C:p.L385L,CADM3:NM_001127173:exon8:c.T1053C:p.L351L,	CADM3:uc001ftl.2:exon8:c.T1053C:p.L351L,CADM3:uc001ftk.2:exon9:c.T1155C:p.L385L,	ENSG00000162706:ENST00000368125:exon8:c.T1053C:p.L351L,ENSG00000162706:ENST00000368124:exon9:c.T1155C:p.L385L,	Het;T>C	685;51|36	Hom;T>C	2089;0|74
N	N	-	1	159272060	159272060	T	C	snp	intronic	 	 	 	 	FCER1A	Fcer1a	ENSG00000179639	Fc fragment of IgE receptor Ia	chr1:159259504-159278014	The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]	select biomarker traits; Wegener Granulomatosis; periodontitis; eczema; atopy IgE urticaria, aspirin-intolerant; Dermatitis, Atopic|Eczema allergic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Immunoglobulin E; serum IgE levels; Coronary Artery Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; nephropathy; breast cancer ; null; Chemokine CCL2; airway hyperresponsiveness atopy; Periodontitis; Cardiovascular Diseases; allergic diseases; respiratory syncytial virus bronchiolitis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Meningeal Neoplasms|meningioma; Inflammation|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Monocyte Chemoattractant Protein-1	Mice homozygous for a knock-out allele exhibit abnormal mast cell physiology and altered susceptibility to type I hypersensitivity reaction. Mice homozygous for another knock-out allele display altered development of allergic airway inflammation and airway hyperresponsiveness.	FCERI mediated NF-kB activation	GO:0000187;activation of MAPK activity;IEA|GO:0001812;positive regulation of type I hypersensitivity;IEA|GO:0001820;serotonin secretion;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007257;activation of JUN kinase activity;IEA|GO:0019370;leukotriene biosynthetic process;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043306;positive regulation of mast cell degranulation;IEA|GO:0045401;positive regulation of interleukin-3 biosynthetic process;IEA|GO:0045425;positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050850;positive regulation of calcium-mediated signaling;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0019767;IgE receptor activity;IEA|GO:0019863;IgE binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FCER1A			https://www.ncbi.nlm.nih.gov/omim/?term=147140	http://www.informatics.jax.org/searchtool/Search.do?query=FCER1A&submit=Quick%0D%14370ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCER1A	rs2251746	0.149161	0	0	1	0	0	intronic	intronic	intronic	FCER1A	FCER1A	ENSG00000179639	Na	Na	Na	Na	Na	Na	Het;T>C	194;4|8	Hom;T>C	436;0|13
N	N	-	1	159321675	159321675	G	T	snp	ncRNA_exonic	 	 	 	 	OR10J7P																		rs4443888	0.395567	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	OR10J3(dist=37226),OR10J1(dist=87837)	BC038194	ENSG00000248442	Na	Na	Na	Na	Na	Na	Het;G>T	56;12|5	Hom;G>T	237;0|10
N	N	-	1	159409533	159409533	G	A	snp	UTR5	-16G>A	 	 	 	OR10J1	Olfr418	ENSG00000196184	olfactory receptor family 10 subfamily J member 1	chr1:159409512-159410600	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Hematocrit; Cardiovascular Diseases; Hemoglobins; hemostatic factors and hematological phenotypes; select biomarker traits; plasma chemerin levels 	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007338;single fertilization;TAS|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR10J1				http://www.informatics.jax.org/searchtool/Search.do?query=OR10J1&submit=Quick%0D%16282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10J1	rs10908721	0.910743	0.9103	0.9622	1	0	0	UTR5	ncRNA_intronic	ncRNA_intronic	OR10J1(NM_012351:c.-16G>A)	BC038194	ENSG00000228560	Na	Na	Na	Na	Na	Na	Het;G>A	466;13|18	Hom;G>A	2245;0|79
N	N	-	1	159409857	159409857	A	G	snp	nonsynonymous SNV	A309G	I103M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	OR10J1	Olfr418	ENSG00000196184	olfactory receptor family 10 subfamily J member 1	chr1:159409512-159410600	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Hematocrit; Cardiovascular Diseases; Hemoglobins; hemostatic factors and hematological phenotypes; select biomarker traits; plasma chemerin levels 	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007338;single fertilization;TAS|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR10J1				http://www.informatics.jax.org/searchtool/Search.do?query=OR10J1&submit=Quick%0D%16282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10J1	rs12048482	0.479633	0.5882	0.5630	0.54	7	13	exonic	exonic	exonic	OR10J1	OR10J1	ENSG00000196184	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	OR10J1:NM_012351:exon1:c.A309G:p.I103M,	OR10J1:uc010piv.2:exon1:c.A309G:p.I103M,	ENSG00000196184:ENST00000423932:exon1:c.A309G:p.I103M,	Het;A>G	785;54|37	Hom;A>G	4026;0|144
N	N	-	1	159505297	159505297	C	T	snp	synonymous SNV	G501A	P167P	hydrophobic,neutral	hydrophobic,neutral	OR10J5	Olfr16	ENSG00000184155	olfactory receptor family 10 subfamily J member 5	chr1:159504793-159505842	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	hemostatic factors and hematological phenotypes	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;IBA|GO:0030594;neurotransmitter receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR10J5				http://www.informatics.jax.org/searchtool/Search.do?query=OR10J5&submit=Quick%0D%15141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10J5	rs4656837	0.552915	0.5983	0.6475	1	0	0	exonic	exonic	exonic	OR10J5	OR10J5	ENSG00000184155	synonymous SNV	synonymous SNV	synonymous SNV	OR10J5:NM_001004469:exon1:c.G501A:p.P167P,	OR10J5:uc010piw.2:exon1:c.G501A:p.P167P,	ENSG00000184155:ENST00000334857:exon1:c.G501A:p.P167P,	Het;C>T	1498;142|80	Hom;C>T	4887;0|182
N	N	-	1	160009121	160009121	A	C	snp	UTR3	*2062T>G	 	 	 	KCNJ10	Kcnj10	ENSG00000177807	potassium voltage-gated channel subfamily J member 10	chr1:160007257-160040038	This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]	temporal lobe epilepsy; epilepsy; Schizophrenia; Migraine with Aura; diabetes, type 2; seizures; Hearing Loss, Unilateral; Hearing Loss, Noise-Induced	Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007601;visual perception;IEA|GO:0007628;adult walking behavior;IEA|GO:0010107;potassium ion import;IBA|GO:0014003;oligodendrocyte development;IEA|GO:0022010;central nervous system myelination;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;IEA|GO:0051935;glutamate reuptake;IEA|GO:0055075;potassium ion homeostasis;IEA|GO:0060075;regulation of resting membrane potential;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ10		https://hpo.jax.org/app/browse/search?q=KCNJ10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602208	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ10&submit=Quick%0D%14090ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ10	rs1053074	0.48103	0	0	1	0	0	UTR3	UTR3	UTR3	KCNJ10(NM_002241:c.*2062T>G)	KCNJ10(uc001fuw.2:c.*2062T>G)	ENSG00000177807(ENST00000368089:c.*2062T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	482;48|27	Hom;A>C	2195;0|57
N	N	-	1	160009419	160009419	A	C	snp	UTR3	*1764T>G	 	 	 	KCNJ10	Kcnj10	ENSG00000177807	potassium voltage-gated channel subfamily J member 10	chr1:160007257-160040038	This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]	temporal lobe epilepsy; epilepsy; Schizophrenia; Migraine with Aura; diabetes, type 2; seizures; Hearing Loss, Unilateral; Hearing Loss, Noise-Induced	Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007601;visual perception;IEA|GO:0007628;adult walking behavior;IEA|GO:0010107;potassium ion import;IBA|GO:0014003;oligodendrocyte development;IEA|GO:0022010;central nervous system myelination;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;IEA|GO:0051935;glutamate reuptake;IEA|GO:0055075;potassium ion homeostasis;IEA|GO:0060075;regulation of resting membrane potential;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ10		https://hpo.jax.org/app/browse/search?q=KCNJ10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602208	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ10&submit=Quick%0D%14090ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ10	rs2486253	0.862819	0	0	1	0	0	UTR3	UTR3	UTR3	KCNJ10(NM_002241:c.*1764T>G)	KCNJ10(uc001fuw.2:c.*1764T>G)	ENSG00000177807(ENST00000368089:c.*1764T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	1449;75|69	Hom;A>C	4808;0|181
N	N	-	1	160012406	160012406	A	G	snp	intronic	 	 	 	 	KCNJ10	Kcnj10	ENSG00000177807	potassium voltage-gated channel subfamily J member 10	chr1:160007257-160040038	This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]	temporal lobe epilepsy; epilepsy; Schizophrenia; Migraine with Aura; diabetes, type 2; seizures; Hearing Loss, Unilateral; Hearing Loss, Noise-Induced	Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007601;visual perception;IEA|GO:0007628;adult walking behavior;IEA|GO:0010107;potassium ion import;IBA|GO:0014003;oligodendrocyte development;IEA|GO:0022010;central nervous system myelination;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;IEA|GO:0051935;glutamate reuptake;IEA|GO:0055075;potassium ion homeostasis;IEA|GO:0060075;regulation of resting membrane potential;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ10		https://hpo.jax.org/app/browse/search?q=KCNJ10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602208	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ10&submit=Quick%0D%14090ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ10	rs12729701	0.204872	0	0	1	0	0	intronic	intronic	intronic	KCNJ10	KCNJ10	ENSG00000177807	Na	Na	Na	Na	Na	Na	Het;A>G	246;17|11	Hom;A>G	818;0|23
N	N	-	1	160090681	160090685	CCCTT	C	indel	intronic	 	 	 	 	ATP1A2	Atp1a2	ENSG00000018625	ATPase Na+/K+ transporting subunit alpha 2	chr1:160085549-160113381	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]	thyrotoxic periodic paralysis; hypertension; familial hemiplegic migraine and benign familial infantile convulsions; epilepsy; Migraine with Aura; Hypertension; Bipolar Disorder; migraine with aura; Type 2 Diabetes| edema | rosiglitazone; Hemiplegia|Migraine Disorders	Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons.	Ion transport by P-type ATPases	GO:0001504;neurotransmitter uptake;IEA|GO:0002026;regulation of the force of heart contraction;IEA|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006937;regulation of muscle contraction;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0006942;regulation of striated muscle contraction;NAS|GO:0008217;regulation of blood pressure;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0008542;visual learning;IEA|GO:0010107;potassium ion import;IDA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030007;cellular potassium ion homeostasis;IC|GO:0034220;ion transmembrane transport;TAS|GO:0035094;response to nicotine;IEA|GO:0036376;sodium ion export from cell;IDA|GO:0040011;locomotion;IEA|GO:0045822;negative regulation of heart contraction;IEA|GO:0045988;negative regulation of striated muscle contraction;IEA|GO:0046034;ATP metabolic process;IMP|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0051946;regulation of glutamate uptake involved in transmission of nerve impulse;NAS|GO:0051966;regulation of synaptic transmission, glutamatergic;NAS|GO:0055119;relaxation of cardiac muscle;TAS|GO:0060048;cardiac muscle contraction;TAS|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071383;cellular response to steroid hormone stimulus;IDA|GO:0086004;regulation of cardiac muscle cell contraction;IEA|GO:0086009;membrane repolarization;TAS|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:1903170;negative regulation of calcium ion transmembrane transport;ISS|GO:1903280;negative regulation of calcium:sodium antiporter activity;ISS|GO:1903416;response to glycoside;IC|GO:1903779;regulation of cardiac conduction;TAS|GO:1990573;potassium ion import across plasma membrane;IC	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005890;sodium:potassium-exchanging ATPase complex;IC|GO:0005901;caveola;IEA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;IEA|GO:0042383;sarcolemma;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043209;myelin sheath;IEA|GO:0045202;synapse;IEA|GO:1903561;extracellular vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005391;sodium:potassium-exchanging ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IMP|GO:0008144;drug binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IMP|GO:0019829;cation-transporting ATPase activity;IEA|GO:0030955;potassium ion binding;IMP|GO:0031402;sodium ion binding;IMP|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI|GO:1990239;steroid hormone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATP1A2	https://www.uniprot.org/uniprot/P50993	https://hpo.jax.org/app/browse/search?q=ATP1A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182340	http://www.informatics.jax.org/searchtool/Search.do?query=ATP1A2&submit=Quick%0D%641ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP1A2	rs373796693	0.689297	0.6861	0.7739	1	0	0	intronic	intronic	intronic	ATP1A2	ATP1A2	ENSG00000018625	Na	Na	Na	Na	Na	Na	Het;-CCTT	773;10|20	Hom;-CCTT	818;0|19
N	N	-	1	160137422	160137422	G	A	snp	intronic	 	 	 	 	ATP1A4	Atp1a4	ENSG00000132681	ATPase Na+/K+ transporting subunit alpha 4	chr1:160121360-160156767	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Potassium	Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;IEA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015991;ATP hydrolysis coupled proton transport;TAS|GO:0030317;flagellated sperm motility;IDA|GO:0030641;regulation of cellular pH;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0042391;regulation of membrane potential;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005890;sodium:potassium-exchanging ATPase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005391;sodium:potassium-exchanging ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP1A4	https://www.uniprot.org/uniprot/Q13733		https://www.ncbi.nlm.nih.gov/omim/?term=607321	http://www.informatics.jax.org/searchtool/Search.do?query=ATP1A4&submit=Quick%0D%6722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP1A4	rs12063789	0.241214	0	0	1	0	0	intronic	intronic	intronic	ATP1A4	ATP1A4	ENSG00000132681	Na	Na	Na	Na	Na	Na	Het;G>A	41;2|3	Hom;G>A	143;0|5
N	N	-	1	160141636	160141636	C	T	snp	intronic	 	 	 	 	ATP1A4	Atp1a4	ENSG00000132681	ATPase Na+/K+ transporting subunit alpha 4	chr1:160121360-160156767	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Potassium	Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;IEA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015991;ATP hydrolysis coupled proton transport;TAS|GO:0030317;flagellated sperm motility;IDA|GO:0030641;regulation of cellular pH;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0042391;regulation of membrane potential;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005890;sodium:potassium-exchanging ATPase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005391;sodium:potassium-exchanging ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP1A4	https://www.uniprot.org/uniprot/Q13733		https://www.ncbi.nlm.nih.gov/omim/?term=607321	http://www.informatics.jax.org/searchtool/Search.do?query=ATP1A4&submit=Quick%0D%6722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP1A4	rs1891265	0.464257	0	0	1	0	0	intronic	intronic	intronic	ATP1A4	ATP1A4	ENSG00000132681	Na	Na	Na	Na	Na	Na	Het;C>T	308;7|12	Hom;C>T	449;0|14
N	N	-	1	160147502	160147502	T	G	snp	intronic	 	 	 	 	ATP1A4	Atp1a4	ENSG00000132681	ATPase Na+/K+ transporting subunit alpha 4	chr1:160121360-160156767	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Potassium	Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;IEA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015991;ATP hydrolysis coupled proton transport;TAS|GO:0030317;flagellated sperm motility;IDA|GO:0030641;regulation of cellular pH;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0042391;regulation of membrane potential;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005890;sodium:potassium-exchanging ATPase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005391;sodium:potassium-exchanging ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP1A4	https://www.uniprot.org/uniprot/Q13733		https://www.ncbi.nlm.nih.gov/omim/?term=607321	http://www.informatics.jax.org/searchtool/Search.do?query=ATP1A4&submit=Quick%0D%6722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP1A4	rs731852	0.786542	0.7087	0.7188	1	0	0	intronic	intronic	intronic	ATP1A4	ATP1A4	ENSG00000132681	Na	Na	Na	Na	Na	Na	Het;T>G	862;47|38	Hom;T>G	2131;5|79
N	N	-	1	160318940	160318940	A	G	snp	intronic	 	 	 	 	NCSTN	Ncstn	ENSG00000162736	nicastrin	chr1:160313062-160328742	This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]	Alzheimer's disease ; Glucose; Alzheimers disease; memory disturbance; cognitive ability; Alzheimer's disease; Alzheimer's Disease	Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs.	Neutrophil degranulation	GO:0002262;myeloid cell homeostasis;IEA|GO:0006508;proteolysis;NAS|GO:0006509;membrane protein ectodomain proteolysis;IDA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0016485;protein processing;IDA|GO:0031293;membrane protein intracellular domain proteolysis;TAS|GO:0034205;beta-amyloid formation;IMP|GO:0042098;T cell proliferation;IEA|GO:0042982;amyloid precursor protein metabolic process;IDA|GO:0042987;amyloid precursor protein catabolic process;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043085;positive regulation of catalytic activity;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050435;beta-amyloid metabolic process;IEA|GO:0050673;epithelial cell proliferation;IEA	GO:0005765;lysosomal membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042470;melanosome;IEA|GO:0070062;extracellular exosome;IDA|GO:0070765;gamma-secretase complex;IDA	GO:0004175;endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NCSTN		https://hpo.jax.org/app/browse/search?q=NCSTN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605254	http://www.informatics.jax.org/searchtool/Search.do?query=NCSTN&submit=Quick%0D%10786ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCSTN	rs6669689	0.558906	0.5250	0.5276	1	0	0	intronic	intronic	intronic	NCSTN	NCSTN	ENSG00000162736	Na	Na	Na	Na	Na	Na	Het;A>G	1412;52|60	Hom;A>G	2636;0|89
N	N	-	1	160582213	160582213	C	A	snp	intronic	 	 	 	 	SLAMF1	Slamf1	ENSG00000117090	signaling lymphocytic activation molecule family member 1	chr1:160577890-160617085		lung cancer ; lung cancer; Schizophrenia; chronic obstructive pulmonary disease; bladder cancer; Tobacco Use Disorder; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; EBV-associated lymphoproliferative disease	Homozygous null mice are fertile and display impaired T cell and macrophage cytokine production.		GO:0001779;natural killer cell differentiation;IEA|GO:0001787;natural killer cell proliferation;IEA|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002250;adaptive immune response;IEA|GO:0002277;myeloid dendritic cell activation involved in immune response;IDA|GO:0002376;immune system process;IEA|GO:0002725;negative regulation of T cell cytokine production;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0016032;viral process;IEA|GO:0031338;regulation of vesicle fusion;IEA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0035744;T-helper 1 cell cytokine production;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0046649;lymphocyte activation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1902714;negative regulation of interferon-gamma secretion;IEA|GO:1902715;positive regulation of interferon-gamma secretion;IEA|GO:2000349;negative regulation of CD40 signaling pathway;IDA|GO:2000510;positive regulation of dendritic cell chemotaxis;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045335;phagocytic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0003823;antigen binding;TAS|GO:0004872;receptor activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLAMF1	https://www.uniprot.org/uniprot/Q13291		https://www.ncbi.nlm.nih.gov/omim/?term=603492	http://www.informatics.jax.org/searchtool/Search.do?query=SLAMF1&submit=Quick%0D%4833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLAMF1	rs2025515	0.400359	0	0	1	0	0	intronic	intronic	intronic	SLAMF1	SLAMF1	ENSG00000117090	Na	Na	Na	Na	Na	Na	Het;C>A	182;16|11	Hom;C>A	342;0|12
N	N	-	1	160582248	160582248	C	G	snp	intronic	 	 	 	 	SLAMF1	Slamf1	ENSG00000117090	signaling lymphocytic activation molecule family member 1	chr1:160577890-160617085		lung cancer ; lung cancer; Schizophrenia; chronic obstructive pulmonary disease; bladder cancer; Tobacco Use Disorder; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; EBV-associated lymphoproliferative disease	Homozygous null mice are fertile and display impaired T cell and macrophage cytokine production.		GO:0001779;natural killer cell differentiation;IEA|GO:0001787;natural killer cell proliferation;IEA|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002250;adaptive immune response;IEA|GO:0002277;myeloid dendritic cell activation involved in immune response;IDA|GO:0002376;immune system process;IEA|GO:0002725;negative regulation of T cell cytokine production;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0016032;viral process;IEA|GO:0031338;regulation of vesicle fusion;IEA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0035744;T-helper 1 cell cytokine production;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0046649;lymphocyte activation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1902714;negative regulation of interferon-gamma secretion;IEA|GO:1902715;positive regulation of interferon-gamma secretion;IEA|GO:2000349;negative regulation of CD40 signaling pathway;IDA|GO:2000510;positive regulation of dendritic cell chemotaxis;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045335;phagocytic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0003823;antigen binding;TAS|GO:0004872;receptor activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLAMF1	https://www.uniprot.org/uniprot/Q13291		https://www.ncbi.nlm.nih.gov/omim/?term=603492	http://www.informatics.jax.org/searchtool/Search.do?query=SLAMF1&submit=Quick%0D%4833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLAMF1	rs11265449	0.400359	0.3462	0.4769	1	0	0	intronic	intronic	intronic	SLAMF1	SLAMF1	ENSG00000117090	Na	Na	Na	Na	Na	Na	Het;C>G	546;23|28	Hom;C>G	798;0|27
N	N	-	1	160811830	160811830	A	G	snp	intronic	 	 	 	 	CD244	Cd244	ENSG00000122223	CD244 molecule	chr1:160799950-160832692	This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]	Arthritis, Rheumatoid|Cell Transformation, Neoplastic|Lupus Erythematosus, Systemic; rheumatoid arthritis; Lupus Nephritis|Lupus Vasculitis, Central Nervous System|Nephritis SLE; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit altered natural killer (NK) cell cytolysis. Mice homozygous for an ENU-generated allele exhibit reduced 'missing-self' targets recognition and elimination and increased clearance of B16 melanoma tumors.	Cell surface interactions at the vascular wall	GO:0001773;myeloid dendritic cell activation;IEA|GO:0002250;adaptive immune response;IEA|GO:0002323;natural killer cell activation involved in immune response;IDA|GO:0002376;immune system process;IEA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0032819;positive regulation of natural killer cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0050900;leukocyte migration;TAS|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IDA|GO:0071663;positive regulation of granzyme B production;IDA|GO:1902715;positive regulation of interferon-gamma secretion;IDA|GO:2000484;positive regulation of interleukin-8 secretion;IDA|GO:2000566;positive regulation of CD8-positive, alpha-beta T cell proliferation;IEA	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042288;MHC class I protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CD244	https://www.uniprot.org/uniprot/Q9BZW8		https://www.ncbi.nlm.nih.gov/omim/?term=605554	http://www.informatics.jax.org/searchtool/Search.do?query=CD244&submit=Quick%0D%5395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD244	rs2990703	0.571885	0	0	1	0	0	intronic	intronic	intronic	CD244	CD244	ENSG00000122223	Na	Na	Na	Na	Na	Na	Het;A>G	171;5|6	Hom;A>G	248;0|7
N	N	-	1	161163037	161163037	T	C	snp	nonsynonymous SNV	A1877G	Q626R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ADAMTS4	Adamts4	ENSG00000158859	ADAM metallopeptidase with thrombospondin type 1 motif 4	chr1:161154098-161168846	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]	plasma HDL cholesterol (HDL-C) levels; schizophrenia	Homozygous mutant mice do not exhibit any morphological abnormalities.  However, they do display impaired coordination and an increased susceptibility to pharmacologically induced seizures.	O-glycosylation of TSR domain-containing proteins	GO:0001501;skeletal system development;TAS|GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0031012;extracellular matrix;IDA	GO:0002020;protease binding;IPI|GO:0004222;metalloendopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;TAS|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS4			https://www.ncbi.nlm.nih.gov/omim/?term=603876	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS4&submit=Quick%0D%10262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS4	rs4233367	0.706869	0.6028	0.6623	0.08	1	13	exonic	exonic	exonic	ADAMTS4	ADAMTS4	ENSG00000158859	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	ADAMTS4:NM_005099:exon7:c.A1877G:p.Q626R,	ADAMTS4:uc001fyt.4:exon7:c.A1877G:p.Q626R,	ENSG00000158859:ENST00000367996:exon7:c.A1877G:p.Q626R,	Het;T>C	445;22|21	Hom;T>C	1393;0|51
N	N	-	1	161976234	161976234	A	G	snp	synonymous SNV	T576C	N192N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OLFML2B	Olfml2b	ENSG00000162745	olfactomedin like 2B	chr1:161952982-161993644		atherosclerosis; Arrhythmias, Cardiac; Tobacco Use Disorder; QT interval; Heart Rate; Electrocardiography	 		GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA	GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OLFML2B				http://www.informatics.jax.org/searchtool/Search.do?query=OLFML2B&submit=Quick%0D%10789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OLFML2B	rs12022536	0.590655	0.7174	0.7328	1	0	0	exonic	exonic	exonic	OLFML2B	OLFML2B	ENSG00000162745	synonymous SNV	synonymous SNV	unknown	OLFML2B:NM_015441:exon4:c.T576C:p.N192N,OLFML2B:NM_001297713:exon4:c.T576C:p.N192N,	OLFML2B:uc010pkq.2:exon4:c.T576C:p.N192N,OLFML2B:uc001gbu.3:exon4:c.T576C:p.N192N,	UNKNOWN	Het;A>G	891;40|42	Hom;A>G	2139;0|74
N	N	-	1	163080896	163080896	C	G	snp	intergenic	 	 	 	 	NONE																		rs2174836	0.459465	0	0	1	0	0	intergenic	intergenic	intergenic	RGS4(dist=34304),RGS5(dist=31193)	RGS4(dist=34304),RGS5(dist=31193)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>G	168;6|6	Hom;C>G	363;0|10
N	N	-	1	163309302	163309302	C	T	snp	intronic	 	 	 	 	NUF2	Nuf2	ENSG00000143228	NUF2, NDC80 kinetochore complex component	chr1:163236366-163325554	This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]	Cholesterol; Myocardial Infarction; Triglycerides; Respiratory Function Tests; Stroke; Cholesterol, LDL; Hypertension; Iron; breast cancer	 	Mitotic Prometaphase	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;NAS|GO:0007062;sister chromatid cohesion;TAS|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031262;Ndc80 complex;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NUF2	https://www.uniprot.org/uniprot/Q9BZD4		https://www.ncbi.nlm.nih.gov/omim/?term=611772	http://www.informatics.jax.org/searchtool/Search.do?query=NUF2&submit=Quick%0D%8396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUF2	rs2999852	0.890176	0.8829	0.9388	1	0	0	intronic	intronic	intronic	NUF2	NUF2	ENSG00000143228	Na	Na	Na	Na	Na	Na	Het;C>T	283;26|16	Hom;C>T	1124;0|42
N	N	-	1	163358185	163358185	C	T	snp	intergenic	 	 	 	 	ENSG00000252740																		rs3010346	0.309904	0	0	1	0	0	intergenic	intergenic	intergenic	NUF2(dist=32632),LOC100422212(dist=32675)	NUF2(dist=32632),5S_rRNA(dist=80101)	ENSG00000252740(dist=2459),ENSG00000225122(dist=34010)	Na	Na	Na	Na	Na	Na	Het;C>T	450;22|23	Hom;C>T	1025;0|37
N	N	-	1	16375210	16375210	G	A	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs9633514	0.357029	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;G>A	129;6|5	Hom;G>A	429;0|13
N	N	-	1	16380243	16380243	A	G	snp	nonsynonymous SNV	A1732G	K578E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs2275166	0.701677	0.7008	0.6586	0.15	2	13	exonic	exonic	exonic	CLCNKB	CLCNKB	ENSG00000184908	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CLCNKB:NM_000085:exon16:c.A1732G:p.K578E,CLCNKB:NM_001165945:exon9:c.A1225G:p.K409E,	CLCNKB:uc001axy.5:exon9:c.A1225G:p.K409E,CLCNKB:uc021ogl.1:exon5:c.A673G:p.K225E,CLCNKB:uc001axx.5:exon16:c.A1732G:p.K578E,	ENSG00000184908:ENST00000375667:exon9:c.A1225G:p.K409E,ENSG00000184908:ENST00000375679:exon16:c.A1732G:p.K578E,ENSG00000184908:ENST00000431772:exon2:c.A199G:p.K67E,	Het;A>G	4202;79|109	Hom;A>G	6971;1|159
N	N	-	1	16380252	16380252	C	T	snp	synonymous SNV	C1234T	L412L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs2275167	0.613618	0.6113	0.6210	1	0	0	exonic	exonic	exonic	CLCNKB	CLCNKB	ENSG00000184908	synonymous SNV	synonymous SNV	synonymous SNV	CLCNKB:NM_000085:exon16:c.C1741T:p.L581L,CLCNKB:NM_001165945:exon9:c.C1234T:p.L412L,	CLCNKB:uc001axy.5:exon9:c.C1234T:p.L412L,CLCNKB:uc021ogl.1:exon5:c.C682T:p.L228L,CLCNKB:uc001axx.5:exon16:c.C1741T:p.L581L,	ENSG00000184908:ENST00000375667:exon9:c.C1234T:p.L412L,ENSG00000184908:ENST00000375679:exon16:c.C1741T:p.L581L,ENSG00000184908:ENST00000431772:exon2:c.C208T:p.L70L,	Het;C>T	4154;76|108	Hom;C>T	6698;1|153
N	N	-	1	16380403	16380403	A	T	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs2275168	0.52476	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;A>T	290;8|10	Hom;A>T	340;0|11
N	N	-	1	16381792	16381792	T	A	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs12047858	0.457867	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;T>A	56;6|3	Hom;T>A	117;0|4
N	N	-	1	16381816	16381816	C	T	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs12029508	0.457867	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;C>T	168;12|7	Hom;C>T	349;0|11
N	N	-	1	16382086	16382086	C	T	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs2297727	0.458666	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;C>T	124;13|7	Hom;C>T	367;0|14
N	N	-	1	16382791	16382791	G	C	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs12023153	0.457668	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;G>C	73;5|3	Hom;G>C	254;0|7
N	N	-	1	16382827	16382830	CTCT	C	indel	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs77508204	0.402556	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;-TCT	179;12|6	Hom;-TCT	753;0|17
N	N	-	1	16382831	16382831	T	A	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs61769890	0.402556	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;T>A	188;12|6	Hom;T>A	787;0|17
N	N	-	1	16382834	16382834	T	A	snp	intronic	 	 	 	 	CLCNKB	Clcnka	ENSG00000184908	chloride voltage-gated channel Kb	chr1:16370272-16383803	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity	Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB		https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602023	http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB	rs61769891	0.402756	0	0	1	0	0	intronic	intronic	intronic	CLCNKB	CLCNKB	ENSG00000184908	Na	Na	Na	Na	Na	Na	Het;T>A	188;12|6	Hom;T>A	787;0|19
N	N	-	1	16386495	16386495	C	T	snp	nonsynonymous SNV	G320A	R107Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FAM131C	Fam131c	ENSG00000185519	family with sequence similarity 131 member C	chr1:16384264-16400127		Psychomotor Performance; Cognitive performance	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM131C				http://www.informatics.jax.org/searchtool/Search.do?query=FAM131C&submit=Quick%0D%15431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM131C	rs71510977	0.396965	0	0.4590	0.46	6	13	exonic	exonic	exonic	FAM131C	FAM131C	ENSG00000185519	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FAM131C:NM_182623:exon5:c.G320A:p.R107Q,	FAM131C:uc001axz.4:exon5:c.G320A:p.R107Q,	ENSG00000185519:ENST00000375662:exon5:c.G320A:p.R107Q,	Het;C>T	542;17|25	Hom;C>T	868;0|35
N	N	-	1	16388485	16388485	T	C	snp	intronic	 	 	 	 	FAM131C	Fam131c	ENSG00000185519	family with sequence similarity 131 member C	chr1:16384264-16400127		Psychomotor Performance; Cognitive performance	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM131C				http://www.informatics.jax.org/searchtool/Search.do?query=FAM131C&submit=Quick%0D%15431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM131C	rs7529103	0.478834	0	0	1	0	0	intronic	intronic	intronic	FAM131C	FAM131C	ENSG00000185519	Na	Na	Na	Na	Na	Na	Het;T>C	148;3|5	Hom;T>C	358;0|10
N	N	-	1	16388565	16388565	C	G	snp	intronic	 	 	 	 	FAM131C	Fam131c	ENSG00000185519	family with sequence similarity 131 member C	chr1:16384264-16400127		Psychomotor Performance; Cognitive performance	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM131C				http://www.informatics.jax.org/searchtool/Search.do?query=FAM131C&submit=Quick%0D%15431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM131C	rs7524413	0.394369	0.3135	0.4418	1	0	0	intronic	intronic	intronic	FAM131C	FAM131C	ENSG00000185519	Na	Na	Na	Na	Na	Na	Het;C>G	1318;22|36	Hom;C>G	2539;0|59
N	N	-	1	16388709	16388709	G	T	snp	intronic	 	 	 	 	FAM131C	Fam131c	ENSG00000185519	family with sequence similarity 131 member C	chr1:16384264-16400127		Psychomotor Performance; Cognitive performance	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM131C				http://www.informatics.jax.org/searchtool/Search.do?query=FAM131C&submit=Quick%0D%15431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM131C	rs28570004	0.465655	0.5484	0.5091	1	0	0	intronic	intronic	intronic	FAM131C	FAM131C	ENSG00000185519	Na	Na	Na	Na	Na	Na	Het;G>T	778;31|40	Hom;G>T	1549;0|55
N	N	-	1	164918609	164918609	T	C	snp	intergenic	 	 	 	 	AL390119.1																		rs10733040	0.861621	0	0	1	0	0	intergenic	intergenic	intergenic	PBX1(dist=97549),LMX1A(dist=252495)	PBX1(dist=64309),LMX1A(dist=252495)	ENSG00000225487(dist=27743),ENSG00000201270(dist=30663)	Na	Na	Na	Na	Na	Na	Het;T>C	400;18|16	Hom;T>C	1257;0|48
N	N	-	1	16528843	16528843	A	G	snp	intronic	 	 	 	 	ARHGEF19	Arhgef19	ENSG00000142632	Rho guanine nucleotide exchange factor 19	chr1:16524349-16539104	Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	G alpha (12/13) signalling events	GO:0032956;regulation of actin cytoskeleton organization;IGI|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0042060;wound healing;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF19	https://www.uniprot.org/uniprot/Q8IW93		https://www.ncbi.nlm.nih.gov/omim/?term=612496	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF19&submit=Quick%0D%8314ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF19	rs1693540	0.813898	0	0	1	0	0	intronic	intronic	intronic	ARHGEF19	ARHGEF19	ENSG00000142632	Na	Na	Na	Na	Na	Na	Het;A>G	353;5|14	Hom;A>G	843;0|29
N	N	-	1	165624799	165624799	G	T	snp	UTR3	*58G>T	 	 	 	MGST3	Mgst3	ENSG00000143198	microsomal glutathione S-transferase 3	chr1:165600098-165631033	This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011]	diabetes, type 2; Hypertension; Tobacco Use Disorder; Alzheimer Disease; drug-related genes ; Osteoporosis	 	Aflatoxin activation and detoxification	GO:0006629;lipid metabolic process;TAS|GO:0006805;xenobiotic metabolic process;TAS|GO:0007165;signal transduction;TAS|GO:0010243;response to organonitrogen compound;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS	GO:0005635;nuclear envelope;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0070062;extracellular exosome;IDA	GO:0004364;glutathione transferase activity;TAS|GO:0004601;peroxidase activity;TAS|GO:0004602;glutathione peroxidase activity;IBA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGST3	https://www.uniprot.org/uniprot/O14880		https://www.ncbi.nlm.nih.gov/omim/?term=604564	http://www.informatics.jax.org/searchtool/Search.do?query=MGST3&submit=Quick%0D%8389ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGST3	rs8133	0.253395	0	0	1	0	0	UTR3	UTR3	UTR3	MGST3(NM_004528:c.*58G>T)	MGST3(uc001gdf.3:c.*58G>T)	ENSG00000143198(ENST00000367889:c.*58G>T,ENST00000367885:c.*58G>T,ENST00000367884:c.*58G>T,ENST00000367883:c.*58G>T,ENST00000367886:c.*58G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	699;15|30	Hom;G>T	2053;0|74
N	N	-	1	16562968	16562968	C	A	snp	intronic	 	 	 	 	RSG1	Rsg1	ENSG00000132881	REM2 and RAB like small GTPase 1	chr1:16558195-16563657			Mice homozygous for ENU-induced mutations exhibit cardiovascular defects including persistent truncus arteriosus and atrioventricular septal defects, as well as polydactyly and micrognathia. Eye defects, hypoplastic lungs and thymus, and tracheoesophageal anomalies may be also present.		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;ISS|GO:0030030;cell projection organization;IEA|GO:0031338;regulation of vesicle fusion;ISS|GO:0034613;cellular protein localization;ISS|GO:0060271;cilium assembly;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RSG1	https://www.uniprot.org/uniprot/Q9BU20			http://www.informatics.jax.org/searchtool/Search.do?query=RSG1&submit=Quick%0D%6760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RSG1	rs6603850	0.660343	0	0	1	0	0	intronic	intronic	intronic	RSG1	RSG1	ENSG00000132881	Na	Na	Na	Na	Na	Na	Het;C>A	100;2|4	Hom;C>A	187;0|6
N	N	-	1	16621183	16621183	C	T	snp	UTR3	*84G>A	 	 	 	FBXO42	Fbxo42	ENSG00000037637	F-box protein 42	chr1:16573334-16678949	Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]		 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXO42	https://www.uniprot.org/uniprot/Q6P3S6		https://www.ncbi.nlm.nih.gov/omim/?term=609109	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO42&submit=Quick%0D%791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO42	rs1007150	0.629193	0	0	1	0	0	intronic	UTR3	intronic	FBXO42	FBXO42(uc001ayh.3:c.*84G>A)	ENSG00000037637	Na	Na	Na	Na	Na	Na	Het;C>T	110;26|6	Hom;C>T	1258;0|43
N	N	-	1	166744477	166744477	G	A	snp	ncRNA_intronic	 	 	 	 	FMO11P																		rs858783	0.838259	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FMO9P(dist=150004),POGK(dist=64247)	FMO9P(dist=150004),POGK(dist=64247)	ENSG00000232148	Na	Na	Na	Na	Na	Na	Het;G>A	180;15|11	Hom;G>A	629;0|23
N	N	-	1	166744569	166744569	C	T	snp	ncRNA_intronic	 	 	 	 	FMO11P																		rs529982	0.445887	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FMO9P(dist=150096),POGK(dist=64155)	FMO9P(dist=150096),POGK(dist=64155)	ENSG00000232148	Na	Na	Na	Na	Na	Na	Het;C>T	167;14|10	Hom;C>T	510;0|20
N	N	-	1	166826655	166826655	C	T	snp	UTR3	*149G>A	 	 	 	TADA1	Tada1	ENSG00000152382	transcriptional adaptor 1	chr1:166825747-166845564	TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]	diabetes, type 1 ; Hypertension; Osteoporosis	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA	GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TADA1	https://www.uniprot.org/uniprot/Q96BN2		https://www.ncbi.nlm.nih.gov/omim/?term=612763	http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1	rs6675033	0.348442	0	0	1	0	0	UTR3	UTR3	UTR3	TADA1(NM_053053:c.*149G>A)	TADA1(uc001gdv.3:c.*149G>A,uc001gdw.3:c.*149G>A)	ENSG00000152382(ENST00000367874:c.*149G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	52;6|3	Hom;C>T	147;0|5
N	N	-	1	166826773	166826773	C	T	snp	UTR3	*31G>A	 	 	 	TADA1	Tada1	ENSG00000152382	transcriptional adaptor 1	chr1:166825747-166845564	TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]	diabetes, type 1 ; Hypertension; Osteoporosis	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA	GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TADA1	https://www.uniprot.org/uniprot/Q96BN2		https://www.ncbi.nlm.nih.gov/omim/?term=612763	http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1	rs6675153	0.442292	0.4760	0.3996	1	0	0	UTR3	UTR3	UTR3	TADA1(NM_053053:c.*31G>A)	TADA1(uc001gdv.3:c.*31G>A,uc001gdw.3:c.*31G>A)	ENSG00000152382(ENST00000367874:c.*31G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	590;35|30	Hom;C>T	1775;0|60
N	N	-	1	166829320	166829320	C	CT	indel	intronic	 	 	 	 	TADA1	Tada1	ENSG00000152382	transcriptional adaptor 1	chr1:166825747-166845564	TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]	diabetes, type 1 ; Hypertension; Osteoporosis	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA	GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TADA1	https://www.uniprot.org/uniprot/Q96BN2		https://www.ncbi.nlm.nih.gov/omim/?term=612763	http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1	rs3215444	0.355431	0	0	1	0	0	intronic	intronic	intronic	TADA1	TADA1	ENSG00000152382	Na	Na	Na	Na	Na	Na	Het;+T	107;5|5	Hom;+T	349;0|11
N	N	-	1	166831404	166831404	A	C	snp	intronic	 	 	 	 	TADA1	Tada1	ENSG00000152382	transcriptional adaptor 1	chr1:166825747-166845564	TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]	diabetes, type 1 ; Hypertension; Osteoporosis	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA	GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TADA1	https://www.uniprot.org/uniprot/Q96BN2		https://www.ncbi.nlm.nih.gov/omim/?term=612763	http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1	rs2075947	0.353834	0.3802	0.3578	1	0	0	intronic	intronic	intronic	TADA1	TADA1	ENSG00000152382	Na	Na	Na	Na	Na	Na	Het;A>C	744;33|32	Hom;A>C	2758;2|96
N	N	-	1	166831703	166831703	C	CA	indel	UTR5	-150G>TG	 	 	 	TADA1	Tada1	ENSG00000152382	transcriptional adaptor 1	chr1:166825747-166845564	TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]	diabetes, type 1 ; Hypertension; Osteoporosis	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA	GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TADA1	https://www.uniprot.org/uniprot/Q96BN2		https://www.ncbi.nlm.nih.gov/omim/?term=612763	http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1	rs35181816	0.353834	0	0	1	0	0	intronic	UTR5	intronic	TADA1	TADA1(uc001gdv.3:c.-150G>TG)	ENSG00000152382	Na	Na	Na	Na	Na	Na	Het;+A	293;10|12	Hom;+A	625;0|20
N	N	-	1	166833199	166833199	C	A	snp	intronic	 	 	 	 	TADA1	Tada1	ENSG00000152382	transcriptional adaptor 1	chr1:166825747-166845564	TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]	diabetes, type 1 ; Hypertension; Osteoporosis	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA	GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TADA1	https://www.uniprot.org/uniprot/Q96BN2		https://www.ncbi.nlm.nih.gov/omim/?term=612763	http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1	rs2272793	0.353235	0.3780	0.3572	1	0	0	intronic	intronic	intronic	TADA1	TADA1	ENSG00000152382	Na	Na	Na	Na	Na	Na	Het;C>A	697;43|33	Hom;C>A	2410;0|90
N	N	-	1	166899807	166899807	T	C	snp	intronic	 	 	 	 	ILDR2	Ildr2	ENSG00000143195	immunoglobulin like domain containing receptor 2	chr1:166882443-166944719		Erythrocyte Count; Hypertension; Hemoglobins; Osteoporosis; Tobacco Use Disorder	Mice homozygous for an ENU-induced stop mutation at threonine-87 display a reduced pancreatic beta-cell replication rate, decreased beta-cell mass, reduced insulin/glucose ratio in blood, impaired glucose tolerance, and persistent mild hypoinsulinemia.		GO:0009749;response to glucose;IEA|GO:0030073;insulin secretion;IEA|GO:0030154;cell differentiation;IEA|GO:0031016;pancreas development;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ILDR2	https://www.uniprot.org/uniprot/Q71H61			http://www.informatics.jax.org/searchtool/Search.do?query=ILDR2&submit=Quick%0D%8387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILDR2	rs2013526	0.526757	0	0	1	0	0	intronic	intronic	intronic	ILDR2	ILDR2	ENSG00000143195	Na	Na	Na	Na	Na	Na	Het;T>C	223;28|14	Hom;T>C	836;0|31
N	N	-	1	167059462	167059462	G	C	snp	intronic	 	 	 	 	GPA33	Gpa33	ENSG00000143167	glycoprotein A33	chr1:167022073-167059868	The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]	Insulin Resistance; Tobacco Use Disorder; Insulin; Osteoporosis; Hypertension	Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis and impaired oral tolerance to ovalbumin.			GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GPA33	https://www.uniprot.org/uniprot/Q99795		https://www.ncbi.nlm.nih.gov/omim/?term=602171	http://www.informatics.jax.org/searchtool/Search.do?query=GPA33&submit=Quick%0D%8378ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPA33	rs2281963	0.383586	0.5105	0.4204	1	0	0	intronic	intronic	intronic	GPA33	GPA33	ENSG00000143167	Na	Na	Na	Na	Na	Na	Het;G>C	1160;33|53	Hom;G>C	1978;0|72
N	N	-	1	16731647	16731647	G	C	snp	intronic	 	 	 	 	SPATA21	Spata21	ENSG00000187144	spermatogenesis associated 21	chr1:16713612-16763919			 				GO:0005509;calcium ion binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPATA21				http://www.informatics.jax.org/searchtool/Search.do?query=SPATA21&submit=Quick%0D%15788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA21	rs526481	0.462859	0.2726	0.4980	1	0	0	intronic	intronic	intronic	SPATA21	SPATA21	ENSG00000187144	Na	Na	Na	Na	Na	Na	Het;G>C	1511;23|40	Hom;G>C	2635;0|57
N	N	-	1	16731661	16731661	T	C	snp	intronic	 	 	 	 	SPATA21	Spata21	ENSG00000187144	spermatogenesis associated 21	chr1:16713612-16763919			 				GO:0005509;calcium ion binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPATA21				http://www.informatics.jax.org/searchtool/Search.do?query=SPATA21&submit=Quick%0D%15788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA21	rs526513	0.463059	0	0	1	0	0	intronic	intronic	intronic	SPATA21	SPATA21	ENSG00000187144	Na	Na	Na	Na	Na	Na	Het;T>C	1294;21|32	Hom;T>C	1631;0|42
N	N	-	1	16736546	16736546	C	T	snp	intronic	 	 	 	 	SPATA21	Spata21	ENSG00000187144	spermatogenesis associated 21	chr1:16713612-16763919			 				GO:0005509;calcium ion binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPATA21				http://www.informatics.jax.org/searchtool/Search.do?query=SPATA21&submit=Quick%0D%15788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA21	rs10907226	0.620607	0.6470	0.6409	1	0	0	intronic	intronic	intronic	SPATA21	SPATA21	ENSG00000187144	Na	Na	Na	Na	Na	Na	Het;C>T	191;20|13	Hom;C>T	943;0|36
N	N	-	1	167382399	167382403	AGTGT	A	indel	intronic	 	 	 	 	POU2F1	Pou2f1	ENSG00000143190	POU class 2 homeobox 1	chr1:167190066-167396582	The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]	plasma levels of liver enzymes; Osteoporosis; Erythrocyte Count; Type 2 diabetes; Tobacco Use Disorder; Alzheimer's Disease; Celiac Disease|; Crohn Disease|Crohn's disease; Colitis, Ulcerative|Crohn Disease|; null; Hypertension; Crohn Disease|Rectal Fistula	Homozygous mutation of this gene results in prenatal lethality, with earlier lethality on either a 129/Sv or C57BL/6 background than a mixed 129/Sv and C57BL/6 background. Embryos show decreased erythropoiesis and partial penetrance of small lens size.	RNA Polymerase III Transcription Initiation From Type 3 Promoter	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IC|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0090575;RNA polymerase II transcription factor complex;IMP	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IMP|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;IMP|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POU2F1	https://www.uniprot.org/uniprot/P14859		https://www.ncbi.nlm.nih.gov/omim/?term=164175	http://www.informatics.jax.org/searchtool/Search.do?query=POU2F1&submit=Quick%0D%8385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POU2F1	rs112044990	0	0	0.4877	1	0	0	intronic	intronic	intronic	POU2F1	POU2F1	ENSG00000143190	Na	Na	Na	Na	Na	Na	Het;-GTGT	213;1|6	Hom;-GTGT	533;0|13
N	N	-	1	167561136	167561136	A	G	snp	downstream	 	 	 	 	AL031733.1																		rs4657673	0.364617	0	0	1	0	0	intergenic	intergenic	downstream	CREG1(dist=38080),RCSD1(dist=38338)	CREG1(dist=38080),RCSD1(dist=38338)	ENSG00000231029	Na	Na	Na	Na	Na	Na	Het;A>G	348;12|15	Hom;A>G	579;0|22
N	N	-	1	167561258	167561258	G	A	snp	downstream	 	 	 	 	AL031733.1																		rs4657674	0.410543	0	0	1	0	0	intergenic	intergenic	downstream	CREG1(dist=38202),RCSD1(dist=38216)	CREG1(dist=38202),RCSD1(dist=38216)	ENSG00000231029	Na	Na	Na	Na	Na	Na	Het;G>A	714;28|36	Hom;G>A	1420;0|55
N	N	-	1	167561342	167561342	C	T	snp	downstream	 	 	 	 	AL031733.1																		rs4657675	0.363219	0	0	1	0	0	intergenic	intergenic	downstream	CREG1(dist=38286),RCSD1(dist=38132)	CREG1(dist=38286),RCSD1(dist=38132)	ENSG00000231029	Na	Na	Na	Na	Na	Na	Het;C>T	316;13|13	Hom;C>T	447;0|17
N	N	-	1	167599533	167599533	C	T	snp	UTR5	-128C>T	 	 	 	RCSD1	Rcsd1	ENSG00000198771	RCSD domain containing 1	chr1:167599330-167675486		Hypertension; Respiratory Function Tests; Osteoporosis	 		GO:0003009;skeletal muscle contraction;ISS|GO:0071474;cellular hyperosmotic response;IDA	GO:0005884;actin filament;IC	GO:0051015;actin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RCSD1			https://www.ncbi.nlm.nih.gov/omim/?term=610579	http://www.informatics.jax.org/searchtool/Search.do?query=RCSD1&submit=Quick%0D%16999ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RCSD1	rs3738220	0.124601	0	0	1	0	0	UTR5	UTR5	ncRNA_intronic	RCSD1(NM_052862:c.-128C>T)	RCSD1(uc001gem.3:c.-128C>T,uc010pli.2:c.-128C>T)	ENSG00000241666	Na	Na	Na	Na	Na	Na	Het;C>T	44;5|4	Hom;C>T	133;0|5
N	N	-	1	167792079	167792079	G	T	snp	intronic	 	 	 	 	ADCY10	Adcy10	ENSG00000143199	adenylate cyclase 10, soluble	chr1:167778625-167883453	The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]	Osteoporosis; Hypertension; Tobacco Use Disorder; Bone Mineral Density	Homozygous null male mutants are infertile with a severe sperm motility defect, female null mutants are fertile. Females exhibit increased cholesterol and triglyceride levels while both sexes have a slight increase in heart rate.	Hedgehog 'off' state	GO:0003351;epithelial cilium movement;IMP|GO:0006171;cAMP biosynthetic process;IDA|GO:0007283;spermatogenesis;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0071241;cellular response to inorganic substance;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;NAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0031514;motile cilium;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045177;apical part of cell;IEA|GO:0045178;basal part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004016;adenylate cyclase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0030145;manganese ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IEA|GO:0071890;bicarbonate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY10	https://www.uniprot.org/uniprot/Q96PN6	https://hpo.jax.org/app/browse/search?q=ADCY10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605205	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY10&submit=Quick%0D%8390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY10	rs2269673	0.568291	0	0	1	0	0	intronic	intronic	intronic	ADCY10	ADCY10	ENSG00000143199	Na	Na	Na	Na	Na	Na	Het;G>T	70;1|3	Hom;G>T	68;0|4
N	N	-	1	16817310	16817310	T	C	snp	ncRNA_intronic	 	 	 	 	CROCCP3																		rs156854	0.621206	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CROCCP3	CROCCP3	ENSG00000080947	Na	Na	Na	Na	Na	Na	Het;T>C	1895;108|89	Hom;T>C	5677;2|202
N	N	-	1	168262289	168262289	A	G	snp	intronic	 	 	 	 	TBX19	Tbx19	ENSG00000143178	T-box 19	chr1:168250278-168283664	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]	Osteoporosis; Hypertension	The phenotype of homozygous null mice is similar to that of patients with early onset pituitary ACTH deficiency. They are characterized by fasting-induced hypoglycemia due to an impaired pituitary-adrenal axis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0021983;pituitary gland development;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0001158;enhancer sequence-specific DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBX19	https://www.uniprot.org/uniprot/O60806	https://hpo.jax.org/app/browse/search?q=TBX19&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604614	http://www.informatics.jax.org/searchtool/Search.do?query=TBX19&submit=Quick%0D%8380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX19	rs7543224	0.580671	0	0	1	0	0	intronic	intronic	intronic	TBX19	TBX19	ENSG00000143178	Na	Na	Na	Na	Na	Na	Het;A>G	287;7|8	Hom;A>G	467;0|11
N	N	-	1	168262299	168262299	C	T	snp	intronic	 	 	 	 	TBX19	Tbx19	ENSG00000143178	T-box 19	chr1:168250278-168283664	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]	Osteoporosis; Hypertension	The phenotype of homozygous null mice is similar to that of patients with early onset pituitary ACTH deficiency. They are characterized by fasting-induced hypoglycemia due to an impaired pituitary-adrenal axis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0021983;pituitary gland development;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0001158;enhancer sequence-specific DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBX19	https://www.uniprot.org/uniprot/O60806	https://hpo.jax.org/app/browse/search?q=TBX19&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604614	http://www.informatics.jax.org/searchtool/Search.do?query=TBX19&submit=Quick%0D%8380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX19	rs7520743	0.369808	0	0	1	0	0	intronic	intronic	intronic	TBX19	TBX19	ENSG00000143178	Na	Na	Na	Na	Na	Na	Het;C>T	321;10|10	Hom;C>T	537;0|13
N	N	-	1	16848029	16848029	T	TTTTG	indel	upstream	 	 	 	 	TRNA_Asn																		rs111976989	0.753794	0	0	1	0	0	intergenic	upstream	ncRNA_intronic	CROCCP3(dist=28833),MIR3675(dist=27380)	TRNA_Asn	ENSG00000224174	Na	Na	Na	Na	Na	Na	Het;+TTTG	776;44|33	Hom;+TTTG	2237;0|50
N	N	-	1	16849660	16849660	G	C	snp	intergenic	 	 	 	 	AL137802.1																		rs156915	0.760982	0	0	1	0	0	intergenic	intergenic	intergenic	CROCCP3(dist=30464),MIR3675(dist=25749)	TRNA_Asn(dist=2507),TRNA_Asn(dist=9233)	ENSG00000224174(dist=1369),ENSG00000233421(dist=10721)	Na	Na	Na	Na	Na	Na	Het;G>C	57;15|6	Hom;G>C	1105;0|40
N	N	-	1	16850013	16850013	T	C	snp	intergenic	 	 	 	 	AL137802.1																		rs156916	0.573482	0	0	1	0	0	intergenic	intergenic	intergenic	CROCCP3(dist=30817),MIR3675(dist=25396)	TRNA_Asn(dist=2860),TRNA_Asn(dist=8880)	ENSG00000224174(dist=1722),ENSG00000233421(dist=10368)	Na	Na	Na	Na	Na	Na	Het;T>C	41;4|3	Hom;T>C	273;0|10
N	N	-	1	168510122	168510122	T	A	snp	UTR3	*68A>T	 	 	 	XCL2		ENSG00000143185	X-C motif chemokine ligand 2	chr1:168510003-168513235			Mice homozygous for a knock-out allele exhibit decreased stimulated cytotoxic T cell cytolysis.	G alpha (q) signalling events	GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0008015;blood circulation;TAS|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS|GO:0048020;CCR chemokine receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/XCL2	https://www.uniprot.org/uniprot/Q9UBD3		https://www.ncbi.nlm.nih.gov/omim/?term=604828	http://www.informatics.jax.org/searchtool/Search.do?query=XCL2&submit=Quick%0D%8384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XCL2	rs470733	0.627596	0	0	1	0	0	UTR3	UTR3	UTR3	XCL2(NM_003175:c.*68A>T)	XCL2(uc001gfn.4:c.*68A>T)	ENSG00000143185(ENST00000367819:c.*68A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	220;28|11	Hom;T>A	784;0|25
N	N	-	1	168511155	168511155	T	C	snp	intronic	 	 	 	 	XCL2		ENSG00000143185	X-C motif chemokine ligand 2	chr1:168510003-168513235			Mice homozygous for a knock-out allele exhibit decreased stimulated cytotoxic T cell cytolysis.	G alpha (q) signalling events	GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0008015;blood circulation;TAS|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS|GO:0048020;CCR chemokine receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/XCL2	https://www.uniprot.org/uniprot/Q9UBD3		https://www.ncbi.nlm.nih.gov/omim/?term=604828	http://www.informatics.jax.org/searchtool/Search.do?query=XCL2&submit=Quick%0D%8384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XCL2	rs76400946	0.661741	0	0	1	0	0	intronic	intronic	intronic	XCL2	XCL2	ENSG00000143185	Na	Na	Na	Na	Na	Na	Het;T>C	271;14|11	Hom;T>C	883;0|29
N	N	-	1	16861242	16861242	T	A	snp	ncRNA_exonic	 	 	 	 	LINC01783																		rs79027138	0	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	CROCCP3(dist=42046),MIR3675(dist=14167)	BC036435	ENSG00000233421	Na	Na	Na	Na	Na	Na	Het;T>A	7759;107|214	Hom;T>A	7554;8|245
N	N	-	1	168727157	168727157	T	C	snp	intergenic	 	 	 	 	ENSG00000221578																		rs2206289	0.689497	0	0	1	0	0	intergenic	intergenic	intergenic	DPT(dist=28715),LINC00626(dist=29022)	DPT(dist=28715),LINC00626(dist=29022)	ENSG00000221578(dist=10037),ENSG00000235736(dist=5446)	Na	Na	Na	Na	Na	Na	Het;T>C	151;5|5	Hom;T>C	388;0|10
N	N	-	1	16885762	16885762	T	C	snp	intergenic	 	 	 	 	AL355149.1																		rs2786817	0	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3675(dist=10280),NBPF1(dist=3160)	MIR3675(dist=10280),NBPF1(dist=3160)	ENSG00000225710(dist=6736),ENSG00000219481(dist=3052)	Na	Na	Na	Na	Na	Na	Het;T>C	1853;8|66	Hom;T>C	2000;0|62
N	N	-	1	16885807	16885807	T	G	snp	intergenic	 	 	 	 	AL355149.1																		rs2260225	0	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3675(dist=10325),NBPF1(dist=3115)	MIR3675(dist=10325),NBPF1(dist=3115)	ENSG00000225710(dist=6781),ENSG00000219481(dist=3007)	Na	Na	Na	Na	Na	Na	Het;T>G	1569;21|57	Hom;T>G	1550;2|51
N	N	-	1	16885858	16885858	G	A	snp	intergenic	 	 	 	 	AL355149.1																		rs1762966	0.67472	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3675(dist=10376),NBPF1(dist=3064)	MIR3675(dist=10376),NBPF1(dist=3064)	ENSG00000225710(dist=6832),ENSG00000219481(dist=2956)	Na	Na	Na	Na	Na	Na	Het;G>A	2244;26|56	Hom;G>A	2846;0|65
N	N	-	1	16885862	16885862	G	T	snp	intergenic	 	 	 	 	AL355149.1																		rs1765543	0.67472	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3675(dist=10380),NBPF1(dist=3060)	MIR3675(dist=10380),NBPF1(dist=3060)	ENSG00000225710(dist=6836),ENSG00000219481(dist=2952)	Na	Na	Na	Na	Na	Na	Het;G>T	2273;26|57	Hom;G>T	2812;0|64
N	N	-	1	168867600	168867600	C	T	snp	ncRNA_exonic	 	 	 	 	SUMO1P2																		rs10489364	0.444289	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00626(dist=105474),LINC00970(dist=5543)	LINC00626(dist=105474),ATP1B1(dist=208347)	ENSG00000229612	Na	Na	Na	Na	Na	Na	Het;C>T	280;13|14	Hom;C>T	661;0|26
N	N	-	1	168877171	168877171	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00970																		rs1570335	0.475439	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00970	LINC00626(dist=115045),ATP1B1(dist=198776)	ENSG00000203601	Na	Na	Na	Na	Na	Na	Het;A>G	819;45|37	Hom;A>G	1930;0|74
N	N	-	1	16890130	16890130	A	C	snp	UTR3	*308T>G	 	 	 	NBPF1	 	ENSG00000219481	NBPF member 1	chr1:16888814-16940057	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]		 		GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NBPF1			https://www.ncbi.nlm.nih.gov/omim/?term=610501	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1	rs1043523	0	0	0	1	0	0	UTR3	UTR3	UTR3	NBPF1(NM_017940:c.*308T>G)	NBPF1(uc001ayw.4:c.*308T>G)	ENSG00000219481(ENST00000430580:c.*308T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	6391;65|230	Hom;A>C	7563;0|233
N	N	-	1	16890598	16890598	T	A	snp	nonsynonymous SNV	A3260T	Y1087F	aromatic,polar,hydrophobic	aromatic,hydrophobic,neutral	NBPF1	 	ENSG00000219481	NBPF member 1	chr1:16888814-16940057	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]		 		GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NBPF1			https://www.ncbi.nlm.nih.gov/omim/?term=610501	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1	rs2990550	0	0	0.5202	0.00	0	3	exonic	exonic	exonic	NBPF1	NBPF1	ENSG00000219481	unknown	nonsynonymous SNV	nonsynonymous SNV	UNKNOWN	NBPF1:uc001ayw.4:exon29:c.A3260T:p.Y1087F,	ENSG00000219481:ENST00000430580:exon29:c.A3260T:p.Y1087F,	Het;T>A	12832;189|390	Hom;T>A	15363;2|415
N	N	-	1	16890671	16890671	T	C	snp	nonsynonymous SNV	A3187G	M1063V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NBPF1	 	ENSG00000219481	NBPF member 1	chr1:16888814-16940057	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]		 		GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NBPF1			https://www.ncbi.nlm.nih.gov/omim/?term=610501	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1	rs2419526	0.546126	0	0.5523	0.00	0	3	exonic	exonic	exonic	NBPF1	NBPF1	ENSG00000219481	unknown	nonsynonymous SNV	nonsynonymous SNV	UNKNOWN	NBPF1:uc001ayw.4:exon29:c.A3187G:p.M1063V,	ENSG00000219481:ENST00000430580:exon29:c.A3187G:p.M1063V,	Het;T>C	10682;76|262	Hom;T>C	9874;2|224
N	N	-	1	16890672	16890672	G	A	snp	synonymous SNV	C3186T	G1062G	aliphatic,neutral	aliphatic,neutral	NBPF1	 	ENSG00000219481	NBPF member 1	chr1:16888814-16940057	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]		 		GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NBPF1			https://www.ncbi.nlm.nih.gov/omim/?term=610501	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1	rs2419525	0.546126	0	0.5522	1	0	0	exonic	exonic	exonic	NBPF1	NBPF1	ENSG00000219481	unknown	synonymous SNV	synonymous SNV	UNKNOWN	NBPF1:uc001ayw.4:exon29:c.C3186T:p.G1062G,	ENSG00000219481:ENST00000430580:exon29:c.C3186T:p.G1062G,	Het;G>A	10682;75|260	Hom;G>A	9829;2|220
N	N	-	1	16890760	16890760	G	A	snp	intronic	 	 	 	 	NBPF1	 	ENSG00000219481	NBPF member 1	chr1:16888814-16940057	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]		 		GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NBPF1			https://www.ncbi.nlm.nih.gov/omim/?term=610501	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1	rs1759170	0.00459265	0	0	1	0	0	intronic	intronic	intronic	NBPF1	NBPF1	ENSG00000219481	Na	Na	Na	Na	Na	Na	Het;G>A	1579;30|58	Hom;G>A	2688;0|73
N	N	-	1	16890787	16890796	ATAGATCCAT	A	indel	intronic	 	 	 	 	NBPF1	 	ENSG00000219481	NBPF member 1	chr1:16888814-16940057	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]		 		GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NBPF1			https://www.ncbi.nlm.nih.gov/omim/?term=610501	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1	rs111418886	0.450679	0	0	1	0	0	intronic	intronic	intronic	NBPF1	NBPF1	ENSG00000219481	Na	Na	Na	Na	Na	Na	Het;-TAGATCCAT	887;6|22	Hom;-TAGATCCAT	998;0|23
N	N	-	1	16893441	16893441	G	A	snp	intronic	 	 	 	 	NBPF1	 	ENSG00000219481	NBPF member 1	chr1:16888814-16940057	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]		 		GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NBPF1			https://www.ncbi.nlm.nih.gov/omim/?term=610501	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1	rs607117	0	0	0	1	0	0	intronic	intronic	intronic	NBPF1	NBPF1	ENSG00000219481	Na	Na	Na	Na	Na	Na	Het;G>A	160;2|8	Hom;G>A	105;0|5
N	N	-	1	169073504	169073504	G	C	snp	ncRNA_exonic	 	 	 	 	AL031726.1																		rs1200125	0.88139	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00970(dist=17261),ATP1B1(dist=2443)	LINC00626(dist=311378),ATP1B1(dist=2443)	ENSG00000237707	Na	Na	Na	Na	Na	Na	Het;G>C	2406;94|99	Hom;G>C	4976;0|179
N	N	-	1	169080837	169080837	C	T	snp	intronic	 	 	 	 	ATP1B1	Atp1b1	ENSG00000143153	ATPase Na+/K+ transporting subunit beta 1	chr1:169074935-169101960	The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]	thyrotoxic periodic paralysis; esophageal adenocarcinoma; Cholesterol, LDL; Osteoporosis; QT interval; Electrocardiography; Hypertension; Type 2 Diabetes| edema | rosiglitazone; Arrhythmias, Cardiac|Long QT Syndrome	Mice homozygous for a conditional allele activated in cardiac tissue exhibit age-related cardiac hypertrophy and reduced cardiac function, insensitivity to ouabain, and increased heart dysfunction following aortic constriction.	Ion transport by P-type ATPases	GO:0001666;response to hypoxia;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;ISS|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0007155;cell adhesion;IEA|GO:0010107;potassium ion import;IDA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0010468;regulation of gene expression;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;ISS|GO:0030001;metal ion transport;IEA|GO:0030007;cellular potassium ion homeostasis;IDA|GO:0032781;positive regulation of ATPase activity;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0036376;sodium ion export from cell;IDA|GO:0044861;protein transport into plasma membrane raft;TAS|GO:0046034;ATP metabolic process;IDA|GO:0050821;protein stabilization;IDA|GO:0050900;leukocyte migration;TAS|GO:0055119;relaxation of cardiac muscle;ISS|GO:0060048;cardiac muscle contraction;ISS|GO:0072659;protein localization to plasma membrane;IDA|GO:0086009;membrane repolarization;IDA|GO:0086013;membrane repolarization during cardiac muscle cell action potential;IC|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IDA|GO:1903169;regulation of calcium ion transmembrane transport;IEA|GO:1903278;positive regulation of sodium ion export from cell;IDA|GO:1903281;positive regulation of calcium:sodium antiporter activity;ISS|GO:1903288;positive regulation of potassium ion import;IDA|GO:1903779;regulation of cardiac conduction;TAS|GO:1990573;potassium ion import across plasma membrane;ISS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005890;sodium:potassium-exchanging ATPase complex;IDA|GO:0005901;caveola;IEA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0042383;sarcolemma;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0001671;ATPase activator activity;IDA|GO:0005391;sodium:potassium-exchanging ATPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008022;protein C-terminus binding;IEA|GO:0008144;drug binding;IPI|GO:0016887;ATPase activity;IDA|GO:0019901;protein kinase binding;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0030955;potassium ion binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATP1B1	https://www.uniprot.org/uniprot/P05026		https://www.ncbi.nlm.nih.gov/omim/?term=182330	http://www.informatics.jax.org/searchtool/Search.do?query=ATP1B1&submit=Quick%0D%8371ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP1B1	rs1200138	0.746805	0	0	1	0	0	intronic	intronic	intronic	ATP1B1	ATP1B1	ENSG00000143153	Na	Na	Na	Na	Na	Na	Het;C>T	37;13|3	Hom;C>T	240;0|7
N	N	-	1	169481950	169481950	G	A	snp	UTR3	*1601C>T	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs2187952	0.275559	0	0	1	0	0	UTR3	UTR3	intergenic	F5(NM_000130:c.*1601C>T)	F5(uc001ggg.1:c.*1601C>T)	ENSG00000213062(dist=25104),ENSG00000198734(dist=1454)	Na	Na	Na	Na	Na	Na	Het;G>A	163;23|10	Hom;G>A	833;0|31
N	N	-	1	169483844	169483844	C	T	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs4656685	0.27516	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;C>T	91;7|4	Hom;C>T	349;0|10
N	N	-	1	169492676	169492676	C	T	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs9332643	0.261781	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;C>T	238;23|12	Hom;C>T	963;0|31
N	N	-	1	169494196	169494196	C	T	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs2301515	0.540735	0.3291	0.4086	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;C>T	47;11|4	Hom;C>T	438;0|17
N	N	-	1	169498975	169498975	T	C	snp	nonsynonymous SNV	A5290G	M1764V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs6030	0.308706	0.2894	0.3351	0.15	2	13	exonic	exonic	exonic	F5	F5	ENSG00000198734	nonsynonymous SNV	nonsynonymous SNV	unknown	F5:NM_000130:exon16:c.A5290G:p.M1764V,	F5:uc001ggg.1:exon16:c.A5290G:p.M1764V,	UNKNOWN	Het;T>C	1916;130|95	Hom;T>C	6911;0|248
N	N	-	1	169499190	169499190	A	G	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs2157581	0.540335	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;A>G	308;8|10	Hom;A>G	449;0|12
N	N	-	1	169499951	169499951	C	T	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs9332620	0.261581	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;C>T	256;7|11	Hom;C>T	654;0|20
N	N	-	1	169510380	169510380	G	A	snp	synonymous SNV	C3948T	L1316L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs9287090	0.263578	0.2443	0.2730	1	0	0	exonic	exonic	exonic	F5	F5	ENSG00000198734	synonymous SNV	synonymous SNV	unknown	F5:NM_000130:exon13:c.C3948T:p.L1316L,	F5:uc001ggg.1:exon13:c.C3948T:p.L1316L,	UNKNOWN	Het;G>A	83;3|5	Hom;G>A	176;0|7
N	N	-	1	169510524	169510524	A	G	snp	synonymous SNV	T3804C	S1268S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs1800594	0.309505	0.2821	0.3108	1	0	0	exonic	exonic	exonic	F5	F5	ENSG00000198734	synonymous SNV	synonymous SNV	unknown	F5:NM_000130:exon13:c.T3804C:p.S1268S,	F5:uc001ggg.1:exon13:c.T3804C:p.S1268S,	UNKNOWN	Het;A>G	120;2|6	Hom;A>G	582;0|20
N	N	-	1	169511555	169511555	T	C	snp	nonsynonymous SNV	A2773G	K925E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs6032	0.26278	0.2435	0.2737	0.15	2	13	exonic	exonic	exonic	F5	F5	ENSG00000198734	nonsynonymous SNV	nonsynonymous SNV	unknown	F5:NM_000130:exon13:c.A2773G:p.K925E,	F5:uc001ggg.1:exon13:c.A2773G:p.K925E,	UNKNOWN	Het;T>C	1696;69|77	Hom;T>C	3350;14|118
N	N	-	1	169511734	169511734	T	C	snp	nonsynonymous SNV	A2594G	H865R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs4525	0.26278	0.2437	0.2738	0.08	1	13	exonic	exonic	exonic	F5	F5	ENSG00000198734	nonsynonymous SNV	nonsynonymous SNV	unknown	F5:NM_000130:exon13:c.A2594G:p.H865R,	F5:uc001ggg.1:exon13:c.A2594G:p.H865R,	UNKNOWN	Het;T>C	1012;76|50	Hom;T>C	3573;2|136
N	N	-	1	169511755	169511755	T	C	snp	nonsynonymous SNV	A2573G	K858R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs4524	0.266773	0.2436	0.2768	0.08	1	13	exonic	exonic	exonic	F5	F5	ENSG00000198734	nonsynonymous SNV	nonsynonymous SNV	unknown	F5:NM_000130:exon13:c.A2573G:p.K858R,	F5:uc001ggg.1:exon13:c.A2573G:p.K858R,	UNKNOWN	Het;T>C	1181;67|58	Hom;T>C	3710;2|136
N	N	-	1	169512027	169512027	T	C	snp	synonymous SNV	A2301G	S767S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs6021	0.26278	0.2436	0.2737	1	0	0	exonic	exonic	exonic	F5	F5	ENSG00000198734	synonymous SNV	synonymous SNV	unknown	F5:NM_000130:exon13:c.A2301G:p.S767S,	F5:uc001ggg.1:exon13:c.A2301G:p.S767S,	UNKNOWN	Het;T>C	2074;93|93	Hom;T>C	4868;0|169
N	N	-	1	169512093	169512093	A	G	snp	synonymous SNV	T2235C	N745N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs6017	0.26278	0.2435	0.2737	1	0	0	exonic	exonic	exonic	F5	F5	ENSG00000198734	synonymous SNV	synonymous SNV	unknown	F5:NM_000130:exon13:c.T2235C:p.N745N,	F5:uc001ggg.1:exon13:c.T2235C:p.N745N,	UNKNOWN	Het;A>G	2104;85|87	Hom;A>G	5027;0|171
N	N	-	1	169512120	169512120	G	A	snp	synonymous SNV	C2208T	I736I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs6016	0.26278	0.2436	0.2736	1	0	0	exonic	exonic	exonic	F5	F5	ENSG00000198734	synonymous SNV	synonymous SNV	unknown	F5:NM_000130:exon13:c.C2208T:p.I736I,	F5:uc001ggg.1:exon13:c.C2208T:p.I736I,	UNKNOWN	Het;G>A	1924;78|87	Hom;G>A	4834;2|177
N	N	-	1	169513436	169513436	C	A	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs9287092	0.256589	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;C>A	194;7|7	Hom;C>A	323;0|10
N	N	-	1	169515874	169515874	T	A	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs13306345	0.257388	0.2244	0.2575	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;T>A	295;34|17	Hom;T>A	1337;0|49
N	N	-	1	169515916	169515916	G	A	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs13306344	0.239816	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;G>A	270;13|9	Hom;G>A	668;0|18
N	N	-	1	169515936	169515936	T	C	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs79186925	0.257588	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;T>C	233;10|7	Hom;T>C	540;0|11
N	N	-	1	169520098	169520098	A	G	snp	intronic	 	 	 	 	F5	F5	ENSG00000198734	coagulation factor V	chr1:169483404-169555826	This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]	longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence	Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA	GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/F5		https://hpo.jax.org/app/browse/search?q=F5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612309	http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=F5	rs10800456	0.587859	0	0	1	0	0	intronic	intronic	intronic	F5	F5	ENSG00000198734	Na	Na	Na	Na	Na	Na	Het;A>G	171;7|6	Hom;A>G	212;0|7
N	N	-	1	171060208	171060208	G	A	snp	intronic	 	 	 	 	FMO3	Fmo3	ENSG00000007933	flavin containing monooxygenase 3	chr1:171060018-171086959	Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]	Hypertension; hypertension; Chronic renal failure|Kidney Failure, Chronic; childhood brain tumors | residential insecticide exposure; colon polyps; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Glomerular Filtration Rate; colorectal cancer; trimethyaminuria; leukemia, myeloid; patent ductus arteriosus; Sudden Infant Death; schizophrenia; Hearing Loss	 	FMO oxidises nucleophiles	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;IBA|GO:0004499;N,N-dimethylaniline monooxygenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0034899;trimethylamine monooxygenase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO3	https://www.uniprot.org/uniprot/P31513	https://hpo.jax.org/app/browse/search?q=FMO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136132	http://www.informatics.jax.org/searchtool/Search.do?query=FMO3&submit=Quick%0D%456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO3	rs1736561	0.639577	0	0	1	0	0	intronic	intronic	intronic	FMO3	FMO3	ENSG00000007933	Na	Na	Na	Na	Na	Na	Het;G>A	192;9|8	Hom;G>A	235;0|8
N	N	-	1	171061990	171061990	A	G	snp	intronic	 	 	 	 	FMO3	Fmo3	ENSG00000007933	flavin containing monooxygenase 3	chr1:171060018-171086959	Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]	Hypertension; hypertension; Chronic renal failure|Kidney Failure, Chronic; childhood brain tumors | residential insecticide exposure; colon polyps; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Glomerular Filtration Rate; colorectal cancer; trimethyaminuria; leukemia, myeloid; patent ductus arteriosus; Sudden Infant Death; schizophrenia; Hearing Loss	 	FMO oxidises nucleophiles	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;IBA|GO:0004499;N,N-dimethylaniline monooxygenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0034899;trimethylamine monooxygenase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO3	https://www.uniprot.org/uniprot/P31513	https://hpo.jax.org/app/browse/search?q=FMO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136132	http://www.informatics.jax.org/searchtool/Search.do?query=FMO3&submit=Quick%0D%456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO3	rs2064074	0.473043	0	0	1	0	0	intronic	intronic	intronic	FMO3	FMO3	ENSG00000007933	Na	Na	Na	Na	Na	Na	Het;A>G	269;8|10	Hom;A>G	828;0|26
N	N	-	1	171076966	171076966	G	A	snp	nonsynonymous SNV	G472A	E158K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	FMO3	Fmo3	ENSG00000007933	flavin containing monooxygenase 3	chr1:171060018-171086959	Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]	Hypertension; hypertension; Chronic renal failure|Kidney Failure, Chronic; childhood brain tumors | residential insecticide exposure; colon polyps; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Glomerular Filtration Rate; colorectal cancer; trimethyaminuria; leukemia, myeloid; patent ductus arteriosus; Sudden Infant Death; schizophrenia; Hearing Loss	 	FMO oxidises nucleophiles	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;IBA|GO:0004499;N,N-dimethylaniline monooxygenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0034899;trimethylamine monooxygenase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO3	https://www.uniprot.org/uniprot/P31513	https://hpo.jax.org/app/browse/search?q=FMO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136132	http://www.informatics.jax.org/searchtool/Search.do?query=FMO3&submit=Quick%0D%456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO3	rs2266782	0.347843	0.4290	0.3830	0.31	4	13	exonic	exonic	exonic	FMO3	FMO3	ENSG00000007933	nonsynonymous SNV	nonsynonymous SNV	unknown	FMO3:NM_001002294:exon4:c.G472A:p.E158K,FMO3:NM_006894:exon4:c.G472A:p.E158K,	FMO3:uc001ghh.3:exon4:c.G472A:p.E158K,FMO3:uc010pmb.2:exon5:c.G412A:p.E138K,FMO3:uc010pmc.2:exon3:c.G283A:p.E95K,FMO3:uc001ghi.3:exon4:c.G472A:p.E158K,	UNKNOWN	Het;G>A	665;33|30	Hom;G>A	1786;3|68
N	N	-	1	171077198	171077198	G	A	snp	intronic	 	 	 	 	FMO3	Fmo3	ENSG00000007933	flavin containing monooxygenase 3	chr1:171060018-171086959	Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]	Hypertension; hypertension; Chronic renal failure|Kidney Failure, Chronic; childhood brain tumors | residential insecticide exposure; colon polyps; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Glomerular Filtration Rate; colorectal cancer; trimethyaminuria; leukemia, myeloid; patent ductus arteriosus; Sudden Infant Death; schizophrenia; Hearing Loss	 	FMO oxidises nucleophiles	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;IBA|GO:0004499;N,N-dimethylaniline monooxygenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0034899;trimethylamine monooxygenase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO3	https://www.uniprot.org/uniprot/P31513	https://hpo.jax.org/app/browse/search?q=FMO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136132	http://www.informatics.jax.org/searchtool/Search.do?query=FMO3&submit=Quick%0D%456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO3	rs1920149	0.538538	0.5464	0.5049	1	0	0	intronic	intronic	intronic	FMO3	FMO3	ENSG00000007933	Na	Na	Na	Na	Na	Na	Het;G>A	856;42|40	Hom;G>A	2202;2|83
N	N	-	1	171077372	171077372	C	G	snp	intronic	 	 	 	 	FMO3	Fmo3	ENSG00000007933	flavin containing monooxygenase 3	chr1:171060018-171086959	Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]	Hypertension; hypertension; Chronic renal failure|Kidney Failure, Chronic; childhood brain tumors | residential insecticide exposure; colon polyps; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Glomerular Filtration Rate; colorectal cancer; trimethyaminuria; leukemia, myeloid; patent ductus arteriosus; Sudden Infant Death; schizophrenia; Hearing Loss	 	FMO oxidises nucleophiles	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;IBA|GO:0004499;N,N-dimethylaniline monooxygenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0034899;trimethylamine monooxygenase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO3	https://www.uniprot.org/uniprot/P31513	https://hpo.jax.org/app/browse/search?q=FMO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136132	http://www.informatics.jax.org/searchtool/Search.do?query=FMO3&submit=Quick%0D%456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO3	rs2066534	0.198882	0.2332	0.2145	1	0	0	intronic	intronic	intronic	FMO3	FMO3	ENSG00000007933	Na	Na	Na	Na	Na	Na	Het;C>G	822;26|35	Hom;C>G	1512;0|52
N	N	-	1	171119021	171119021	T	C	snp	ncRNA_intronic	 	 	 	 	FMO6P																		rs1795244	0.654752	0	0	1	0	0	ncRNA_intronic	intronic	intronic	FMO6P	FMO6P	ENSG00000117507	Na	Na	Na	Na	Na	Na	Het;T>C	223;4|7	Hom;T>C	397;0|11
N	N	-	1	171120956	171120956	C	G	snp	ncRNA_intronic	 	 	 	 	FMO6P																		rs7882954	0.207468	0	0	1	0	0	ncRNA_intronic	intronic	intronic	FMO6P	FMO6P	ENSG00000117507	Na	Na	Na	Na	Na	Na	Het;C>G	174;6|7	Hom;C>G	363;0|10
N	N	-	1	171130598	171130603	CACACA	C	indel	ncRNA_exonic	 	 	 	 	FMO6P																		rs145126383	0.420927	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	FMO6P	FMO6P(uc001ghj.1:c.*301_*306delinsC)	ENSG00000117507(ENST00000367754:c.*1354_*1359delinsC)	Na	Na	Na	Na	Na	Na	Het;-ACACA	2437;94|68	Hom;-ACACA	6908;0|158
N	N	-	1	171155103	171155103	C	T	snp	intronic	 	 	 	 	FMO2	Fmo2	ENSG00000094963	flavin containing monooxygenase 2	chr1:171154347-171181822	This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]	leukemia, myeloid; Chronic renal failure|Kidney Failure, Chronic; null; Potassium; Hearing Loss	 	FMO oxidises nucleophiles	GO:0006082;organic acid metabolic process;IDA|GO:0006739;NADP metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009404;toxin metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070995;NADPH oxidation;IDA|GO:0072592;oxygen metabolic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0004499;N,N-dimethylaniline monooxygenase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO2	https://www.uniprot.org/uniprot/Q99518		https://www.ncbi.nlm.nih.gov/omim/?term=603955	http://www.informatics.jax.org/searchtool/Search.do?query=FMO2&submit=Quick%0D%2229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO2	rs6657314	0.654153	0	0	1	0	0	intronic	intronic	intronic	FMO2	FMO2	ENSG00000094963	Na	Na	Na	Na	Na	Na	Het;C>T	283;15|12	Hom;C>T	533;0|19
N	N	-	1	171168585	171168585	A	G	snp	synonymous SNV	A585G	S195S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FMO2	Fmo2	ENSG00000094963	flavin containing monooxygenase 2	chr1:171154347-171181822	This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]	leukemia, myeloid; Chronic renal failure|Kidney Failure, Chronic; null; Potassium; Hearing Loss	 	FMO oxidises nucleophiles	GO:0006082;organic acid metabolic process;IDA|GO:0006739;NADP metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009404;toxin metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070995;NADPH oxidation;IDA|GO:0072592;oxygen metabolic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0004499;N,N-dimethylaniline monooxygenase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO2	https://www.uniprot.org/uniprot/Q99518		https://www.ncbi.nlm.nih.gov/omim/?term=603955	http://www.informatics.jax.org/searchtool/Search.do?query=FMO2&submit=Quick%0D%2229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO2	rs2020861	0.589257	0.5028	0.5021	1	0	0	exonic	exonic	exonic	FMO2	FMO2	ENSG00000094963	unknown	synonymous SNV	unknown	UNKNOWN	FMO2:uc001ghk.1:exon5:c.A585G:p.S195S,	UNKNOWN	Het;A>G	1170;61|33	Hom;A>G	4191;7|123
N	N	-	1	171191583	171191583	C	T	snp	ncRNA_intronic	 	 	 	 	AL021026.1																		rs981460	0.293331	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FMO2(dist=9761),FMO1(dist=26027)	FMO2(dist=9761),FMO1(dist=26050)	ENSG00000225243	Na	Na	Na	Na	Na	Na	Het;C>T	86;3|5	Hom;C>T	155;0|7
N	N	-	1	171301033	171301033	C	G	snp	intronic	 	 	 	 	FMO4	Fmo4	ENSG00000076258	flavin containing monooxygenase 4	chr1:171283347-171311223	Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]	Hearing Loss	 		GO:0042737;drug catabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004499;N,N-dimethylaniline monooxygenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO4	https://www.uniprot.org/uniprot/P31512		https://www.ncbi.nlm.nih.gov/omim/?term=136131	http://www.informatics.jax.org/searchtool/Search.do?query=FMO4&submit=Quick%0D%1579ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO4	rs2294483	0.566094	0	0	1	0	0	intronic	intronic	intronic	FMO4	FMO4	ENSG00000076258	Na	Na	Na	Na	Na	Na	Het;C>G	596;21|22	Hom;C>G	958;0|27
N	N	-	1	171302094	171302094	A	C	snp	intronic	 	 	 	 	FMO4	Fmo4	ENSG00000076258	flavin containing monooxygenase 4	chr1:171283347-171311223	Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]	Hearing Loss	 		GO:0042737;drug catabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004499;N,N-dimethylaniline monooxygenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO4	https://www.uniprot.org/uniprot/P31512		https://www.ncbi.nlm.nih.gov/omim/?term=136131	http://www.informatics.jax.org/searchtool/Search.do?query=FMO4&submit=Quick%0D%1579ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO4	rs4140632	0.58766	0.5620	0.5387	1	0	0	intronic	intronic	intronic	FMO4	FMO4	ENSG00000076258	Na	Na	Na	Na	Na	Na	Het;A>C	264;10|10	Hom;A>C	463;0|16
N	N	-	1	171311003	171311003	A	C	snp	UTR3	*25A>C	 	 	 	FMO4	Fmo4	ENSG00000076258	flavin containing monooxygenase 4	chr1:171283347-171311223	Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]	Hearing Loss	 		GO:0042737;drug catabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004499;N,N-dimethylaniline monooxygenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FMO4	https://www.uniprot.org/uniprot/P31512		https://www.ncbi.nlm.nih.gov/omim/?term=136131	http://www.informatics.jax.org/searchtool/Search.do?query=FMO4&submit=Quick%0D%1579ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO4	rs1042772	0.575479	0.5470	0.5143	1	0	0	UTR3	UTR3	UTR3	FMO4(NM_002022:c.*25A>C)	FMO4(uc001gho.3:c.*25A>C)	ENSG00000076258(ENST00000367749:c.*25A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	521;27|21	Hom;A>C	972;0|34
N	N	-	1	171491264	171491264	T	A	snp	intronic	 	 	 	 	PRRC2C	Prrc2c	ENSG00000117523	proline rich coiled-coil 2C	chr1:171454651-171562650			 		GO:0002244;hematopoietic progenitor cell differentiation;IEA	GO:0016020;membrane;IDA	GO:0003723;RNA binding;IDA|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRC2C	https://www.uniprot.org/uniprot/Q9Y520		https://www.ncbi.nlm.nih.gov/omim/?term=617373	http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2C&submit=Quick%0D%4890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2C	rs3736679	0.530351	0	0.5321	1	0	0	intronic	intronic	intronic	PRRC2C	PRRC2C	ENSG00000117523	Na	Na	Na	Na	Na	Na	Het;T>A	163;2|9	Hom;T>A	238;0|9
N	N	-	1	171514848	171514848	T	TTTTA	indel	intronic	 	 	 	 	PRRC2C	Prrc2c	ENSG00000117523	proline rich coiled-coil 2C	chr1:171454651-171562650			 		GO:0002244;hematopoietic progenitor cell differentiation;IEA	GO:0016020;membrane;IDA	GO:0003723;RNA binding;IDA|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRC2C	https://www.uniprot.org/uniprot/Q9Y520		https://www.ncbi.nlm.nih.gov/omim/?term=617373	http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2C&submit=Quick%0D%4890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2C	rs144272003	0	0.2816	0.0472	1	0	0	intronic	intronic	intronic	PRRC2C	PRRC2C	ENSG00000117523	Na	Na	Na	Na	Na	Na	Het;+TTTA	948;2|24	Hom;+TTTA	1348;2|36
N	N	-	1	171673749	171673750	AT	A	indel	intronic	 	 	 	 	VAMP4	Vamp4	ENSG00000117533	vesicle associated membrane protein 4	chr1:171669300-171711387	Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]	Erythrocyte Count; diabetes, type 2	 	Clathrin-mediated endocytosis	GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006887;exocytosis;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0035493;SNARE complex assembly;IDA|GO:0061024;membrane organization;TAS|GO:0090161;Golgi ribbon formation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005764;lysosome;TAS|GO:0005768;endosome;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030133;transport vesicle;TAS|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031201;SNARE complex;IBA|GO:0032588;trans-Golgi network membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VAMP4	https://www.uniprot.org/uniprot/O75379		https://www.ncbi.nlm.nih.gov/omim/?term=606909	http://www.informatics.jax.org/searchtool/Search.do?query=VAMP4&submit=Quick%0D%4893ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP4	rs3835498	0.142572	0.1712	0	1	0	0	intronic	intronic	intronic	VAMP4	VAMP4	ENSG00000117533	Na	Na	Na	Na	Na	Na	Het;-T	136;13|6	Hom;-T	81;0|3
N	N	-	1	17201853	17201853	T	C	snp	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	rs2988306	0.000199681	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16337),CROCC(dist=46592)	CROCC	ENSG00000228549(dist=1266),ENSG00000238142(dist=13180)	Na	Na	Na	Na	Na	Na	Het;T>C	755;5|32	Hom;T>C	968;5|41
N	N	-	1	17201912	17201912	A	T	snp	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	rs113059261	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16396),CROCC(dist=46533)	CROCC	ENSG00000228549(dist=1325),ENSG00000238142(dist=13121)	Na	Na	Na	Na	Na	Na	Het;A>T	556;2|13	Hom;A>T	762;1|18
N	N	-	1	17201926	17201926	C	G	snp	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	rs59300652	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16410),CROCC(dist=46519)	CROCC	ENSG00000228549(dist=1339),ENSG00000238142(dist=13107)	Na	Na	Na	Na	Na	Na	Het;C>G	470;2|11	Hom;C>G	692;0|15
N	N	-	1	17201941	17201943	AGC	A	indel	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	Na	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16425),CROCC(dist=46502)	CROCC	ENSG00000228549(dist=1354),ENSG00000238142(dist=13090)	Na	Na	Na	Na	Na	Na	Het;-GC	251;2|7	Hom;-GC	503;0|12
N	N	-	1	17201944	17201944	A	AT	indel	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	Na	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16428),CROCC(dist=46501)	CROCC	ENSG00000228549(dist=1357),ENSG00000238142(dist=13089)	Na	Na	Na	Na	Na	Na	Het;+T	251;2|7	Hom;+T	503;0|12
N	N	-	1	17201946	17201946	G	GA	indel	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	Na	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16430),CROCC(dist=46499)	CROCC	ENSG00000228549(dist=1359),ENSG00000238142(dist=13087)	Na	Na	Na	Na	Na	Na	Het;+A	257;1|7	Hom;+A	503;0|11
N	N	-	1	17201948	17201948	G	A	snp	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	rs80166772	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16432),CROCC(dist=46497)	CROCC	ENSG00000228549(dist=1361),ENSG00000238142(dist=13085)	Na	Na	Na	Na	Na	Na	Het;G>A	305;1|8	Hom;G>A	467;0|11
N	N	-	1	17201954	17201954	G	C	snp	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	rs76608920	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR3675(dist=16438),CROCC(dist=46491)	CROCC	ENSG00000228549(dist=1367),ENSG00000238142(dist=13079)	Na	Na	Na	Na	Na	Na	Het;G>C	305;1|8	Hom;G>C	377;0|9
N	N	-	1	17201968	17201968	T	C	snp	ncRNA_exonic	 	 	 	 	TRNA_Asn																		rs80348122	0	0	0	1	0	0	intergenic	ncRNA_exonic	intergenic	MIR3675(dist=16452),CROCC(dist=46477)	TRNA_Asn	ENSG00000228549(dist=1381),ENSG00000238142(dist=13065)	Na	Na	Na	Na	Na	Na	Het;T>C	179;1|5	Hom;T>C	287;0|6
N	N	-	1	172038079	172038079	T	C	snp	intronic	 	 	 	 	DNM3	Dnm3	ENSG00000197959	dynamin 3	chr1:171810621-172387606	This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Platelet Count; monocyte chemoattractant protein 1 (66-77); Body Height; mean platelet volume; Tobacco Use Disorder; Waist-Hip Ratio; height; Height; Lipoproteins, VLDL	Mice homozygous for a targeted allele are viable and fertile.	Clathrin-mediated endocytosis	GO:0000266;mitochondrial fission;IBA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006897;endocytosis;IEA|GO:0007416;synapse assembly;ISS|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0046847;filopodium assembly;ISS|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0061002;negative regulation of dendritic spine morphogenesis;IEA|GO:0061025;membrane fusion;IBA|GO:0098884;postsynaptic neurotransmitter receptor internalization;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0014069;postsynaptic density;ISS|GO:0030424;axon;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0043083;synaptic cleft;IEA|GO:0043197;dendritic spine;ISS|GO:0044327;dendritic spine head;IEA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0070062;extracellular exosome;IDA|GO:0098844;postsynaptic endocytic zone membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0031798;type 1 metabotropic glutamate receptor binding;IEA|GO:0031802;type 5 metabotropic glutamate receptor binding;IEA|GO:0050998;nitric-oxide synthase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNM3			https://www.ncbi.nlm.nih.gov/omim/?term=611445	http://www.informatics.jax.org/searchtool/Search.do?query=DNM3&submit=Quick%0D%16768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM3	rs12760234	0.247404	0.2867	0.3702	1	0	0	intronic	intronic	intronic	DNM3	DNM3	ENSG00000197959	Na	Na	Na	Na	Na	Na	Het;T>C	626;22|30	Hom;T>C	1732;0|64
N	N	-	1	17216244	17216244	C	T	snp	ncRNA_exonic	 	 	 	 	TRNA_Asn																		rs71644016	0.0139776	0	0	1	0	0	intergenic	ncRNA_exonic	upstream;downstream	MIR3675(dist=30728),CROCC(dist=32201)	TRNA_Asn	ENSG00000238142;ENSG00000235241	Na	Na	Na	Na	Na	Na	Het;C>T	60;7|4	Hom;C>T	231;0|8
N	N	-	1	172502479	172502479	T	C	snp	synonymous SNV	T489C	I163I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SUCO	Suco	ENSG00000094975	SUN domain containing ossification factor	chr1:172501489-172580971		Alcoholism	Mice homozygous for a mutation in this gene display background strain-dependent neonatal and postnatal lethality, and impaired osteoblast differentiation resulting in impaired bone formation, brittle bones, and impaired fracture repair.		GO:0001503;ossification;IEA|GO:0007275;multicellular organism development;IEA|GO:0032967;positive regulation of collagen biosynthetic process;ISS|GO:0045669;positive regulation of osteoblast differentiation;ISS|GO:0046850;regulation of bone remodeling;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030867;rough endoplasmic reticulum membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SUCO	https://www.uniprot.org/uniprot/Q9UBS9			http://www.informatics.jax.org/searchtool/Search.do?query=SUCO&submit=Quick%0D%2230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUCO	rs2285144	0.589457	0.6258	0.6360	1	0	0	exonic	UTR5	exonic	SUCO	SUCO(uc010pmm.1:c.-97T>C,uc001giq.4:c.-97T>C,uc009wwd.3:c.-97T>C,uc010pmn.2:c.-97T>C,uc010pmo.3:c.-55452T>C)	ENSG00000094975	synonymous SNV	Na	unknown	SUCO:NM_016227:exon2:c.T489C:p.I163I,	Na	UNKNOWN	Het;T>C	498;39|26	Hom;T>C	2082;1|77
N	N	-	1	172539442	172539442	A	G	snp	intronic	 	 	 	 	SUCO	Suco	ENSG00000094975	SUN domain containing ossification factor	chr1:172501489-172580971		Alcoholism	Mice homozygous for a mutation in this gene display background strain-dependent neonatal and postnatal lethality, and impaired osteoblast differentiation resulting in impaired bone formation, brittle bones, and impaired fracture repair.		GO:0001503;ossification;IEA|GO:0007275;multicellular organism development;IEA|GO:0032967;positive regulation of collagen biosynthetic process;ISS|GO:0045669;positive regulation of osteoblast differentiation;ISS|GO:0046850;regulation of bone remodeling;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030867;rough endoplasmic reticulum membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SUCO	https://www.uniprot.org/uniprot/Q9UBS9			http://www.informatics.jax.org/searchtool/Search.do?query=SUCO&submit=Quick%0D%2230ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUCO	rs3752515	0.584465	0	0	1	0	0	intronic	intronic	intronic	SUCO	SUCO	ENSG00000094975	Na	Na	Na	Na	Na	Na	Het;A>G	277;10|9	Hom;A>G	544;0|14
N	N	-	1	172627498	172627498	C	T	snp	upstream	 	 	 	 	FASLG	Fasl	ENSG00000117560	Fas ligand	chr1:172628154-172636014	This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]	Helicobacter Infections|Intestinal Neoplasms|Precancerous Conditions|Stomach Neoplasms; Adenocarcinoma|Stomach Neoplasms; melanoma|Skin Neoplasms; Cervical Neoplasm|Lymphatic Metastasis|Uterine Cervical Neoplasms; Neoplasms; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C, Chronic|LCC - Liver cell carcinoma; diabetes, type 1; Vitamin K; Migraine with Aura; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; Respiratory Function Tests; systemic lupus erythematosus; Carcinoma, Renal Cell|Renal Cell Carcinoma; azoospermia oligospermia; head and neck cancer; Lymphocytosis|Lymphoproliferative Disorders; Triglycerides; Celiac Disease; body mass diabetes, type 2 insulin; Hypercholesterolemia|LDLC levels; lung cancer; Body Mass Index; chronic idiopathic neutropenia; Vitiligo; longevity; Leukemia, Myeloid, Acute; preeclampsia; Crohn Disease; Alopecia Areata; Stomach Neoplasms; Sjogren's syndrome, primary; thyroid cancer; cervical cancer; Waldenstrom macroglobulinaemia; chronic lymphocytic leukaemia; Infection|Inflammation|Premature Birth; Creatinine; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Cervical Neoplasm|Uterine Cervical Neoplasms; Nasopharyngeal Neoplasms; ovarian cancer; HIV; melanoma; Crohn's disease; chronic obstructive pulmonary disease; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary|Squamous cell carcinoma; Azoospermia|Oligospermia; benzene haematotoxicity; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; susceptibility to Multiple Sclerosis; Tobacco Use Disorder; Cholesterol, HDL; Glomerular Filtration Rate; multiple sclerosis; Carcinoma, Squamous Cell|Leukoplakia, Oral|Mouth Neoplasms|Oral Submucous Fibrosis|Precancerous Conditions|Squamous cell carcinoma; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; lung cancer ; Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; liver transplant; Lipoproteins, VLDL; Lupus Erythematosus, Systemic; Multiple Myeloma; Longevity; Diabetes Mellitus|Pancreatic Neoplasms; Silicosis; heart transplant; hepatitis C; Infertility, Male; breast cancer ; endometriosis; bladder cancer; Asthma; Body Weight Changes; colorectal cancer; thrombocytopenia; esophageal cancer; Alzheimer's Disease; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Graves' disease; lupus erythematosus; Inflammation|Premature Birth; periodontitis; breast cancer; Celiac disease; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma	Mice homozygous for a spontaneous allele, knock-out allele, or allele producting only the soluble isoform exhibit premature death due to the development of systemic lupus erythematosus, autoimmune glomerulonephritis, hepatomegaly, lymphadenopathy, and hypergammaglobulinaemia.	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IEA|GO:0046666;retinal cell programmed cell death;IEA|GO:0048388;endosomal lumen acidification;IEA|GO:0070231;T cell apoptotic process;IDA|GO:0070266;necroptotic process;IDA|GO:0070848;response to growth factor;IEA|GO:0097190;apoptotic signaling pathway;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;TAS|GO:0097527;necroptotic signaling pathway;IDA|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1903514;calcium ion transport from endoplasmic reticulum to cytosol;IDA|GO:2000353;positive regulation of endothelial cell apoptotic process;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IEA|GO:0046666;retinal cell programmed cell death;IEA|GO:0048388;endosomal lumen acidification;IEA|GO:0070231;T cell apoptotic process;IDA|GO:0070266;necroptotic process;IDA|GO:0070848;response to growth factor;IEA|GO:0097190;apoptotic signaling pathway;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;TAS|GO:0097527;necroptotic signaling pathway;IDA|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1903514;calcium ion transport from endoplasmic reticulum to cytosol;IDA|GO:2000353;positive regulation of endothelial cell apoptotic process;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043202;lysosomal lumen;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0060205;cytoplasmic vesicle lumen;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;TAS|GO:0005123;death receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FASLG	https://www.uniprot.org/uniprot/P48023	https://hpo.jax.org/app/browse/search?q=FASLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134638	http://www.informatics.jax.org/searchtool/Search.do?query=FASLG&submit=Quick%0D%122ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FASLG	rs763110	0.530351	0	0	1	0	0	upstream	upstream	upstream	FASLG	FASLG	ENSG00000117560	Na	Na	Na	Na	Na	Na	Het;C>T	281;16|15	Hom;C>T	420;0|17
N	N	-	1	17264296	17264296	G	A	snp	intronic	 	 	 	 	CROCC	Crocc	ENSG00000058453	ciliary rootlet coiled-coil, rootletin	chr1:17066768-17299474			Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia.  However, photoreceptors degenerate over time, and lungs appear prone to pathological changes.		GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0032053;ciliary basal body organization;IEA|GO:0033365;protein localization to organelle;IMP|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0051656;establishment of organelle localization;IEA|GO:1903566;positive regulation of protein localization to cilium;IMP	GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0035253;ciliary rootlet;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROCC	https://www.uniprot.org/uniprot/Q5TZA2		https://www.ncbi.nlm.nih.gov/omim/?term=615776	http://www.informatics.jax.org/searchtool/Search.do?query=CROCC&submit=Quick%0D%1035ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROCC	rs9435792	0	0	0	1	0	0	intronic	intronic	intronic	CROCC	CROCC	ENSG00000058453	Na	Na	Na	Na	Na	Na	Het;G>A	305;3|12	Hom;G>A	681;0|25
N	N	-	1	17301672	17301672	T	C	snp	intronic	 	 	 	 	MFAP2	Mfap2	ENSG00000117122	microfibril associated protein 2	chr1:17300997-17307330	Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]	Respiratory Function Tests; Exfoliation Syndrome|Glaucoma, Open-Angle; Body Height	Homozygotes for a knock-out allele show thrombocytopenia, delayed thrombotic occlusion following vessel injury, and prolonged bleeding from a tail vein incision. Homozygotes for a different knock-out allele exhibit marrow adipose tissue expansion, insulin resistance, and altered basal hematopoiesis.	Molecules associated with elastic fibres	GO:0030198;extracellular matrix organization;TAS|GO:0048048;embryonic eye morphogenesis;IEP|GO:0048050;post-embryonic eye morphogenesis;IEP	GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MFAP2	https://www.uniprot.org/uniprot/P55001		https://www.ncbi.nlm.nih.gov/omim/?term=156790	http://www.informatics.jax.org/searchtool/Search.do?query=MFAP2&submit=Quick%0D%4838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP2	rs761423	0.377796	0	0	1	0	0	intronic	intronic	intronic	MFAP2	MFAP2	ENSG00000117122	Na	Na	Na	Na	Na	Na	Het;T>C	233;12|10	Hom;T>C	567;0|18
N	N	-	1	17301780	17301780	A	G	snp	synonymous SNV	T432C	H144H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	MFAP2	Mfap2	ENSG00000117122	microfibril associated protein 2	chr1:17300997-17307330	Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]	Respiratory Function Tests; Exfoliation Syndrome|Glaucoma, Open-Angle; Body Height	Homozygotes for a knock-out allele show thrombocytopenia, delayed thrombotic occlusion following vessel injury, and prolonged bleeding from a tail vein incision. Homozygotes for a different knock-out allele exhibit marrow adipose tissue expansion, insulin resistance, and altered basal hematopoiesis.	Molecules associated with elastic fibres	GO:0030198;extracellular matrix organization;TAS|GO:0048048;embryonic eye morphogenesis;IEP|GO:0048050;post-embryonic eye morphogenesis;IEP	GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MFAP2	https://www.uniprot.org/uniprot/P55001		https://www.ncbi.nlm.nih.gov/omim/?term=156790	http://www.informatics.jax.org/searchtool/Search.do?query=MFAP2&submit=Quick%0D%4838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP2	rs761422	0.415335	0.4656	0.4427	1	0	0	exonic	exonic	exonic	MFAP2	MFAP2	ENSG00000117122	synonymous SNV	synonymous SNV	synonymous SNV	MFAP2:NM_002403:exon8:c.T432C:p.H144H,MFAP2:NM_001135247:exon8:c.T429C:p.H143H,MFAP2:NM_017459:exon8:c.T432C:p.H144H,MFAP2:NM_001135248:exon8:c.T429C:p.H143H,	MFAP2:uc001azy.3:exon8:c.T432C:p.H144H,MFAP2:uc001azx.3:exon8:c.T429C:p.H143H,MFAP2:uc001azw.3:exon8:c.T432C:p.H144H,MFAP2:uc010ocl.2:exon8:c.T429C:p.H143H,	ENSG00000117122:ENST00000375534:exon7:c.T429C:p.H143H,ENSG00000117122:ENST00000438542:exon8:c.T429C:p.H143H,ENSG00000117122:ENST00000375535:exon8:c.T432C:p.H144H,	Het;A>G	717;47|38	Hom;A>G	1463;2|57
N	N	-	1	17303589	17303589	C	T	snp	intronic	 	 	 	 	MFAP2	Mfap2	ENSG00000117122	microfibril associated protein 2	chr1:17300997-17307330	Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]	Respiratory Function Tests; Exfoliation Syndrome|Glaucoma, Open-Angle; Body Height	Homozygotes for a knock-out allele show thrombocytopenia, delayed thrombotic occlusion following vessel injury, and prolonged bleeding from a tail vein incision. Homozygotes for a different knock-out allele exhibit marrow adipose tissue expansion, insulin resistance, and altered basal hematopoiesis.	Molecules associated with elastic fibres	GO:0030198;extracellular matrix organization;TAS|GO:0048048;embryonic eye morphogenesis;IEP|GO:0048050;post-embryonic eye morphogenesis;IEP	GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MFAP2	https://www.uniprot.org/uniprot/P55001		https://www.ncbi.nlm.nih.gov/omim/?term=156790	http://www.informatics.jax.org/searchtool/Search.do?query=MFAP2&submit=Quick%0D%4838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP2	rs2235932	0.376797	0.4867	0.5106	1	0	0	intronic	intronic	intronic	MFAP2	MFAP2	ENSG00000117122	Na	Na	Na	Na	Na	Na	Het;C>T	788;27|34	Hom;C>T	1652;0|63
N	N	-	1	17312743	17312743	C	T	snp	nonsynonymous SNV	G3214A	A1072T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ATP13A2	Atp13a2	ENSG00000159363	ATPase 13A2	chr1:17312453-17338423	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]	height; Body Height; Parkinson's disease ; Parkinson's disease; Parkinson Disease	Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006879;cellular iron ion homeostasis;IMP|GO:0006882;cellular zinc ion homeostasis;IMP|GO:0010821;regulation of mitochondrion organization;IDA|GO:0016241;regulation of macroautophagy;IMP|GO:0016243;regulation of autophagosome size;IDA|GO:0030003;cellular cation homeostasis;TAS|GO:0033157;regulation of intracellular protein transport;NAS|GO:0034220;ion transmembrane transport;TAS|GO:0034599;cellular response to oxidative stress;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0050714;positive regulation of protein secretion;IMP|GO:0052548;regulation of endopeptidase activity;IMP|GO:0055069;zinc ion homeostasis;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071287;cellular response to manganese ion;IMP|GO:0071294;cellular response to zinc ion;TAS|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901215;negative regulation of neuron death;ISS|GO:1903146;regulation of mitophagy;TAS|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1905037;autophagosome organization;IDA|GO:1905122;polyamine import;IDA|GO:1905123;regulation of glucosylceramidase activity;IEA|GO:1905165;regulation of lysosomal protein catabolic process;IGI|GO:1905166;negative regulation of lysosomal protein catabolic process;TAS|GO:1990938;peptidyl-aspartic acid autophosphorylation;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005776;autophagosome;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0030133;transport vesicle;IDA|GO:0031982;vesicle;IDA|GO:0032585;multivesicular body membrane;NAS|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043202;lysosomal lumen;TAS|GO:1905103;integral component of lysosomal membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;NAS|GO:0019829;cation-transporting ATPase activity;TAS|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA|GO:1903135;cupric ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A2		https://hpo.jax.org/app/browse/search?q=ATP13A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610513	http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A2&submit=Quick%0D%10328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A2	rs3170740	0.33127	0.4213	0.5065	0.18	2	11	exonic	exonic	exonic	ATP13A2	ATP13A2	ENSG00000159363	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	ATP13A2:NM_001141974:exon27:c.G3214A:p.A1072T,	ATP13A2:uc001bac.2:exon27:c.G3214A:p.A1072T,	ENSG00000159363:ENST00000502418:exon7:c.G934A:p.A312T,ENSG00000159363:ENST00000341676:exon27:c.G3214A:p.A1072T,	Het;C>T	660;24|29	Hom;C>T	1752;0|63
N	N	-	1	17313157	17313157	G	A	snp	ncRNA_intronic	 	 	 	 	AL049569.1																		rs2076605	0.346845	0.4232	0.4958	1	0	0	intronic	intronic	ncRNA_intronic	ATP13A2	ATP13A2	ENSG00000226526	Na	Na	Na	Na	Na	Na	Het;G>A	192;16|10	Hom;G>A	1171;0|45
N	N	-	1	17313343	17313343	G	A	snp	synonymous SNV	C3192T	A1064A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ATP13A2	Atp13a2	ENSG00000159363	ATPase 13A2	chr1:17312453-17338423	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]	height; Body Height; Parkinson's disease ; Parkinson's disease; Parkinson Disease	Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006879;cellular iron ion homeostasis;IMP|GO:0006882;cellular zinc ion homeostasis;IMP|GO:0010821;regulation of mitochondrion organization;IDA|GO:0016241;regulation of macroautophagy;IMP|GO:0016243;regulation of autophagosome size;IDA|GO:0030003;cellular cation homeostasis;TAS|GO:0033157;regulation of intracellular protein transport;NAS|GO:0034220;ion transmembrane transport;TAS|GO:0034599;cellular response to oxidative stress;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0050714;positive regulation of protein secretion;IMP|GO:0052548;regulation of endopeptidase activity;IMP|GO:0055069;zinc ion homeostasis;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071287;cellular response to manganese ion;IMP|GO:0071294;cellular response to zinc ion;TAS|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901215;negative regulation of neuron death;ISS|GO:1903146;regulation of mitophagy;TAS|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1905037;autophagosome organization;IDA|GO:1905122;polyamine import;IDA|GO:1905123;regulation of glucosylceramidase activity;IEA|GO:1905165;regulation of lysosomal protein catabolic process;IGI|GO:1905166;negative regulation of lysosomal protein catabolic process;TAS|GO:1990938;peptidyl-aspartic acid autophosphorylation;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005776;autophagosome;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0030133;transport vesicle;IDA|GO:0031982;vesicle;IDA|GO:0032585;multivesicular body membrane;NAS|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043202;lysosomal lumen;TAS|GO:1905103;integral component of lysosomal membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;NAS|GO:0019829;cation-transporting ATPase activity;TAS|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA|GO:1903135;cupric ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A2		https://hpo.jax.org/app/browse/search?q=ATP13A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610513	http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A2&submit=Quick%0D%10328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A2	rs9435659	0.338458	0.4164	0.4648	1	0	0	exonic	exonic	exonic	ATP13A2	ATP13A2	ENSG00000159363	synonymous SNV	synonymous SNV	synonymous SNV	ATP13A2:NM_022089:exon27:c.C3192T:p.A1064A,ATP13A2:NM_001141973:exon27:c.C3177T:p.A1059A,ATP13A2:NM_001141974:exon26:c.C3060T:p.A1020A,	ATP13A2:uc001baa.2:exon27:c.C3192T:p.A1064A,ATP13A2:uc001bab.2:exon27:c.C3177T:p.A1059A,ATP13A2:uc001bac.2:exon26:c.C3060T:p.A1020A,	ENSG00000159363:ENST00000452699:exon27:c.C3177T:p.A1059A,ENSG00000159363:ENST00000502418:exon6:c.C780T:p.A260A,ENSG00000159363:ENST00000326735:exon27:c.C3192T:p.A1064A,ENSG00000159363:ENST00000341676:exon26:c.C3060T:p.A1020A,	Het;G>A	2172;94|107	Hom;G>A	4187;0|164
N	N	-	1	17313654	17313654	C	T	snp	synonymous SNV	G2970A	V990V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ATP13A2	Atp13a2	ENSG00000159363	ATPase 13A2	chr1:17312453-17338423	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]	height; Body Height; Parkinson's disease ; Parkinson's disease; Parkinson Disease	Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006879;cellular iron ion homeostasis;IMP|GO:0006882;cellular zinc ion homeostasis;IMP|GO:0010821;regulation of mitochondrion organization;IDA|GO:0016241;regulation of macroautophagy;IMP|GO:0016243;regulation of autophagosome size;IDA|GO:0030003;cellular cation homeostasis;TAS|GO:0033157;regulation of intracellular protein transport;NAS|GO:0034220;ion transmembrane transport;TAS|GO:0034599;cellular response to oxidative stress;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0050714;positive regulation of protein secretion;IMP|GO:0052548;regulation of endopeptidase activity;IMP|GO:0055069;zinc ion homeostasis;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071287;cellular response to manganese ion;IMP|GO:0071294;cellular response to zinc ion;TAS|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901215;negative regulation of neuron death;ISS|GO:1903146;regulation of mitophagy;TAS|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1905037;autophagosome organization;IDA|GO:1905122;polyamine import;IDA|GO:1905123;regulation of glucosylceramidase activity;IEA|GO:1905165;regulation of lysosomal protein catabolic process;IGI|GO:1905166;negative regulation of lysosomal protein catabolic process;TAS|GO:1990938;peptidyl-aspartic acid autophosphorylation;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005776;autophagosome;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0030133;transport vesicle;IDA|GO:0031982;vesicle;IDA|GO:0032585;multivesicular body membrane;NAS|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043202;lysosomal lumen;TAS|GO:1905103;integral component of lysosomal membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;NAS|GO:0019829;cation-transporting ATPase activity;TAS|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA|GO:1903135;cupric ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A2		https://hpo.jax.org/app/browse/search?q=ATP13A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610513	http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A2&submit=Quick%0D%10328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A2	rs761421	0.346246	0.4256	0.4639	1	0	0	exonic	exonic	exonic	ATP13A2	ATP13A2	ENSG00000159363	synonymous SNV	synonymous SNV	synonymous SNV	ATP13A2:NM_022089:exon26:c.G2970A:p.V990V,ATP13A2:NM_001141973:exon26:c.G2955A:p.V985V,ATP13A2:NM_001141974:exon25:c.G2838A:p.V946V,	ATP13A2:uc001baa.2:exon26:c.G2970A:p.V990V,ATP13A2:uc001bab.2:exon26:c.G2955A:p.V985V,ATP13A2:uc001bac.2:exon25:c.G2838A:p.V946V,	ENSG00000159363:ENST00000452699:exon26:c.G2955A:p.V985V,ENSG00000159363:ENST00000502418:exon5:c.G558A:p.V186V,ENSG00000159363:ENST00000326735:exon26:c.G2970A:p.V990V,ENSG00000159363:ENST00000341676:exon25:c.G2838A:p.V946V,	Het;C>T	1266;67|69	Hom;C>T	3236;0|118
N	N	-	1	17314942	17314942	G	A	snp	synonymous SNV	C2637T	G879G	aliphatic,neutral	aliphatic,neutral	ATP13A2	Atp13a2	ENSG00000159363	ATPase 13A2	chr1:17312453-17338423	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]	height; Body Height; Parkinson's disease ; Parkinson's disease; Parkinson Disease	Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006879;cellular iron ion homeostasis;IMP|GO:0006882;cellular zinc ion homeostasis;IMP|GO:0010821;regulation of mitochondrion organization;IDA|GO:0016241;regulation of macroautophagy;IMP|GO:0016243;regulation of autophagosome size;IDA|GO:0030003;cellular cation homeostasis;TAS|GO:0033157;regulation of intracellular protein transport;NAS|GO:0034220;ion transmembrane transport;TAS|GO:0034599;cellular response to oxidative stress;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0050714;positive regulation of protein secretion;IMP|GO:0052548;regulation of endopeptidase activity;IMP|GO:0055069;zinc ion homeostasis;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071287;cellular response to manganese ion;IMP|GO:0071294;cellular response to zinc ion;TAS|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901215;negative regulation of neuron death;ISS|GO:1903146;regulation of mitophagy;TAS|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1905037;autophagosome organization;IDA|GO:1905122;polyamine import;IDA|GO:1905123;regulation of glucosylceramidase activity;IEA|GO:1905165;regulation of lysosomal protein catabolic process;IGI|GO:1905166;negative regulation of lysosomal protein catabolic process;TAS|GO:1990938;peptidyl-aspartic acid autophosphorylation;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005776;autophagosome;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0030133;transport vesicle;IDA|GO:0031982;vesicle;IDA|GO:0032585;multivesicular body membrane;NAS|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043202;lysosomal lumen;TAS|GO:1905103;integral component of lysosomal membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;NAS|GO:0019829;cation-transporting ATPase activity;TAS|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA|GO:1903135;cupric ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A2		https://hpo.jax.org/app/browse/search?q=ATP13A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610513	http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A2&submit=Quick%0D%10328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A2	rs9435662	0.338658	0.4154	0.4590	1	0	0	exonic	exonic	exonic	ATP13A2	ATP13A2	ENSG00000159363	synonymous SNV	synonymous SNV	synonymous SNV	ATP13A2:NM_022089:exon24:c.C2637T:p.G879G,ATP13A2:NM_001141973:exon24:c.C2622T:p.G874G,ATP13A2:NM_001141974:exon23:c.C2505T:p.G835G,	ATP13A2:uc001baa.2:exon24:c.C2637T:p.G879G,ATP13A2:uc001bab.2:exon24:c.C2622T:p.G874G,ATP13A2:uc001bac.2:exon23:c.C2505T:p.G835G,	ENSG00000159363:ENST00000452699:exon24:c.C2622T:p.G874G,ENSG00000159363:ENST00000502418:exon3:c.C225T:p.G75G,ENSG00000159363:ENST00000326735:exon24:c.C2637T:p.G879G,ENSG00000159363:ENST00000341676:exon23:c.C2505T:p.G835G,	Het;G>A	2218;103|102	Hom;G>A	4655;1|176
N	N	-	1	17319011	17319011	G	A	snp	synonymous SNV	C1815T	P605P	hydrophobic,neutral	hydrophobic,neutral	ATP13A2	Atp13a2	ENSG00000159363	ATPase 13A2	chr1:17312453-17338423	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]	height; Body Height; Parkinson's disease ; Parkinson's disease; Parkinson Disease	Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006879;cellular iron ion homeostasis;IMP|GO:0006882;cellular zinc ion homeostasis;IMP|GO:0010821;regulation of mitochondrion organization;IDA|GO:0016241;regulation of macroautophagy;IMP|GO:0016243;regulation of autophagosome size;IDA|GO:0030003;cellular cation homeostasis;TAS|GO:0033157;regulation of intracellular protein transport;NAS|GO:0034220;ion transmembrane transport;TAS|GO:0034599;cellular response to oxidative stress;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0050714;positive regulation of protein secretion;IMP|GO:0052548;regulation of endopeptidase activity;IMP|GO:0055069;zinc ion homeostasis;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071287;cellular response to manganese ion;IMP|GO:0071294;cellular response to zinc ion;TAS|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901215;negative regulation of neuron death;ISS|GO:1903146;regulation of mitophagy;TAS|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1905037;autophagosome organization;IDA|GO:1905122;polyamine import;IDA|GO:1905123;regulation of glucosylceramidase activity;IEA|GO:1905165;regulation of lysosomal protein catabolic process;IGI|GO:1905166;negative regulation of lysosomal protein catabolic process;TAS|GO:1990938;peptidyl-aspartic acid autophosphorylation;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005776;autophagosome;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0030133;transport vesicle;IDA|GO:0031982;vesicle;IDA|GO:0032585;multivesicular body membrane;NAS|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043202;lysosomal lumen;TAS|GO:1905103;integral component of lysosomal membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;NAS|GO:0019829;cation-transporting ATPase activity;TAS|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA|GO:1903135;cupric ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A2		https://hpo.jax.org/app/browse/search?q=ATP13A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610513	http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A2&submit=Quick%0D%10328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A2	rs2076603	0.448482	0.5693	0.5540	1	0	0	exonic	exonic	exonic	ATP13A2	ATP13A2	ENSG00000159363	synonymous SNV	synonymous SNV	synonymous SNV	ATP13A2:NM_022089:exon17:c.C1815T:p.P605P,ATP13A2:NM_001141973:exon17:c.C1800T:p.P600P,ATP13A2:NM_001141974:exon17:c.C1800T:p.P600P,	ATP13A2:uc001baa.2:exon17:c.C1815T:p.P605P,ATP13A2:uc001bab.2:exon17:c.C1800T:p.P600P,ATP13A2:uc001bac.2:exon17:c.C1800T:p.P600P,	ENSG00000159363:ENST00000452699:exon17:c.C1800T:p.P600P,ENSG00000159363:ENST00000326735:exon17:c.C1815T:p.P605P,ENSG00000159363:ENST00000503552:exon3:c.C285T:p.P95P,ENSG00000159363:ENST00000341676:exon17:c.C1800T:p.P600P,	Het;G>A	1867;89|86	Hom;G>A	4140;0|149
N	N	-	1	173331762	173331762	T	C	snp	ncRNA_exonic	 	 	 	 	AL645568.2																		rs7528321	0.833267	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC100506023	LOC100506023	ENSG00000231615	Na	Na	Na	Na	Na	Na	Het;T>C	66;9|5	Hom;T>C	222;0|9
N	N	-	1	173332629	173332629	A	C	snp	ncRNA_exonic	 	 	 	 	AL645568.2																		rs1857066	0.833067	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC100506023	LOC100506023	ENSG00000231615	Na	Na	Na	Na	Na	Na	Het;A>C	491;15|21	Hom;A>C	755;0|29
N	N	-	1	17371152	17371152	T	C	snp	intronic	 	 	 	 	SDHB	Sdhb	ENSG00000117118	succinate dehydrogenase complex iron sulfur subunit B	chr1:17345217-17380665	Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]	Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma|Syndrome; paragangliomas, head and neck; pheochromocytomas; Paraganglioma; paragangliomas, head and neck; spermatogenesis; prostate cancer; Adrenal Gland Neoplasms|Paraganglioma|Pheochromocytoma; height; prolonged survival associated; renal cell carcinoma; paragangliomas; head and neck cancer; Narcolepsy; Adrenal Gland Neoplasms|Carcinoma, Renal Cell|Kidney Neoplasms|Paraganglioma|Pheochromocytoma; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 2a|Paraganglioma|Pheochromocytoma|von Hippel-Lindau Disease; hypoxia; Hamartoma Syndrome, Multiple; Adrenal Gland Neoplasms|Adrenal Neoplasm|Neoplasms, Multiple Primary|Paraganglioma|Pheochromocytoma; Adrenal Gland Neoplasms|Pheochromocytoma; Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma; thyroid cancer; pheochtomocytomas; extra-adrenal and/or malignant phaeochromocytomas; pheochromocytomas and paragangliomas; pheochromocytoma; null; Adrenal Gland Neoplasms|Head and Neck Neoplasms|Paraganglioma|Pheochromocytoma; Head and Neck Neoplasms|Paraganglioma; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	The gene is involved in the hypoxia-induced RNA editing pathway in monocytes. Heterozygous compound KOs show reduced increase in blood hemoglobin under hypoxic conditions. Homozygous inactivation of this gene results in complete embryonic lethality.	Citric acid cycle (TCA cycle)	GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IEA|GO:0009060;aerobic respiration;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0045273;respiratory chain complex II;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0048039;ubiquinone binding;ISS|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA|GO:0051538;3 iron, 4 sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDHB	https://www.uniprot.org/uniprot/P21912	https://hpo.jax.org/app/browse/search?q=SDHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=185470	http://www.informatics.jax.org/searchtool/Search.do?query=SDHB&submit=Quick%0D%4837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHB	rs12073028	0.475439	0	0	1	0	0	intronic	intronic	intronic	SDHB	SDHB	ENSG00000117118	Na	Na	Na	Na	Na	Na	Het;T>C	312;9|12	Hom;T>C	142;0|5
N	N	-	1	17377409	17377409	G	A	snp	intronic	 	 	 	 	SDHB	Sdhb	ENSG00000117118	succinate dehydrogenase complex iron sulfur subunit B	chr1:17345217-17380665	Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]	Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma|Syndrome; paragangliomas, head and neck; pheochromocytomas; Paraganglioma; paragangliomas, head and neck; spermatogenesis; prostate cancer; Adrenal Gland Neoplasms|Paraganglioma|Pheochromocytoma; height; prolonged survival associated; renal cell carcinoma; paragangliomas; head and neck cancer; Narcolepsy; Adrenal Gland Neoplasms|Carcinoma, Renal Cell|Kidney Neoplasms|Paraganglioma|Pheochromocytoma; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 2a|Paraganglioma|Pheochromocytoma|von Hippel-Lindau Disease; hypoxia; Hamartoma Syndrome, Multiple; Adrenal Gland Neoplasms|Adrenal Neoplasm|Neoplasms, Multiple Primary|Paraganglioma|Pheochromocytoma; Adrenal Gland Neoplasms|Pheochromocytoma; Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma; thyroid cancer; pheochtomocytomas; extra-adrenal and/or malignant phaeochromocytomas; pheochromocytomas and paragangliomas; pheochromocytoma; null; Adrenal Gland Neoplasms|Head and Neck Neoplasms|Paraganglioma|Pheochromocytoma; Head and Neck Neoplasms|Paraganglioma; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	The gene is involved in the hypoxia-induced RNA editing pathway in monocytes. Heterozygous compound KOs show reduced increase in blood hemoglobin under hypoxic conditions. Homozygous inactivation of this gene results in complete embryonic lethality.	Citric acid cycle (TCA cycle)	GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IEA|GO:0009060;aerobic respiration;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0045273;respiratory chain complex II;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0048039;ubiquinone binding;ISS|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA|GO:0051538;3 iron, 4 sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDHB	https://www.uniprot.org/uniprot/P21912	https://hpo.jax.org/app/browse/search?q=SDHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=185470	http://www.informatics.jax.org/searchtool/Search.do?query=SDHB&submit=Quick%0D%4837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHB	rs2295059	0.351837	0	0	1	0	0	intronic	intronic	intronic	SDHB	SDHB	ENSG00000117118	Na	Na	Na	Na	Na	Na	Het;G>A	188;8|8	Hom;G>A	538;0|19
N	N	-	1	17377556	17377556	C	T	snp	intronic	 	 	 	 	SDHB	Sdhb	ENSG00000117118	succinate dehydrogenase complex iron sulfur subunit B	chr1:17345217-17380665	Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]	Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma|Syndrome; paragangliomas, head and neck; pheochromocytomas; Paraganglioma; paragangliomas, head and neck; spermatogenesis; prostate cancer; Adrenal Gland Neoplasms|Paraganglioma|Pheochromocytoma; height; prolonged survival associated; renal cell carcinoma; paragangliomas; head and neck cancer; Narcolepsy; Adrenal Gland Neoplasms|Carcinoma, Renal Cell|Kidney Neoplasms|Paraganglioma|Pheochromocytoma; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 2a|Paraganglioma|Pheochromocytoma|von Hippel-Lindau Disease; hypoxia; Hamartoma Syndrome, Multiple; Adrenal Gland Neoplasms|Adrenal Neoplasm|Neoplasms, Multiple Primary|Paraganglioma|Pheochromocytoma; Adrenal Gland Neoplasms|Pheochromocytoma; Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma; thyroid cancer; pheochtomocytomas; extra-adrenal and/or malignant phaeochromocytomas; pheochromocytomas and paragangliomas; pheochromocytoma; null; Adrenal Gland Neoplasms|Head and Neck Neoplasms|Paraganglioma|Pheochromocytoma; Head and Neck Neoplasms|Paraganglioma; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	The gene is involved in the hypoxia-induced RNA editing pathway in monocytes. Heterozygous compound KOs show reduced increase in blood hemoglobin under hypoxic conditions. Homozygous inactivation of this gene results in complete embryonic lethality.	Citric acid cycle (TCA cycle)	GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IEA|GO:0009060;aerobic respiration;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0045273;respiratory chain complex II;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0048039;ubiquinone binding;ISS|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA|GO:0051538;3 iron, 4 sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDHB	https://www.uniprot.org/uniprot/P21912	https://hpo.jax.org/app/browse/search?q=SDHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=185470	http://www.informatics.jax.org/searchtool/Search.do?query=SDHB&submit=Quick%0D%4837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHB	rs2295057	0.346845	0	0	1	0	0	intronic	intronic	intronic	SDHB	SDHB	ENSG00000117118	Na	Na	Na	Na	Na	Na	Het;C>T	759;21|37	Hom;C>T	1822;0|71
N	N	-	1	17395480	17395480	G	A	snp	UTR3	*59C>T	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs2076599	0.441494	0	0	1	0	0	UTR3	UTR3	UTR3	PADI2(NM_007365:c.*59C>T)	PADI2(uc001baf.3:c.*59C>T,uc010ocm.2:c.*59C>T)	ENSG00000117115(ENST00000375486:c.*59C>T,ENST00000444885:c.*59C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	564;13|24	Hom;G>A	1251;0|44
N	N	-	1	17395521	17395521	G	A	snp	UTR3	*18C>T	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs2076598	0.441494	0.5262	0.5534	1	0	0	UTR3	UTR3	UTR3	PADI2(NM_007365:c.*18C>T)	PADI2(uc001baf.3:c.*18C>T,uc010ocm.2:c.*18C>T)	ENSG00000117115(ENST00000375486:c.*18C>T,ENST00000444885:c.*18C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1241;44|53	Hom;G>A	2870;0|103
N	N	-	1	17396703	17396703	T	C	snp	synonymous SNV	A1296G	L432L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs2076595	0.444688	0.5289	0.5538	1	0	0	exonic	exonic	exonic	PADI2	PADI2	ENSG00000117115	synonymous SNV	synonymous SNV	synonymous SNV	PADI2:NM_007365:exon15:c.A1644G:p.L548L,	PADI2:uc010ocm.2:exon12:c.A1296G:p.L432L,PADI2:uc001baf.3:exon15:c.A1644G:p.L548L,	ENSG00000117115:ENST00000444885:exon12:c.A1296G:p.L432L,ENSG00000117115:ENST00000375486:exon15:c.A1644G:p.L548L,	Het;T>C	694;26|34	Hom;T>C	1003;0|37
N	N	-	1	17398066	17398066	G	C	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs875219	0.527756	0	0	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;G>C	355;3|10	Hom;G>C	685;0|16
N	N	-	1	17398069	17398069	T	C	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs875218	0.527756	0	0	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;T>C	355;2|8	Hom;T>C	685;0|15
N	N	-	1	17401283	17401283	C	T	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs3818041	0.526558	0	0	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;C>T	66;7|4	Hom;C>T	175;0|6
N	N	-	1	17402116	17402116	G	T	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs3818035	0.526358	0	0	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;G>T	629;20|24	Hom;G>T	1677;0|54
N	N	-	1	17402135	17402135	T	C	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs3818034	0.526158	0.6156	0.6161	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;T>C	943;43|38	Hom;T>C	2466;0|86
N	N	-	1	17402159	17402159	G	A	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs3818033	0.525759	0.6153	0.6144	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;G>A	1417;76|63	Hom;G>A	3486;0|127
N	N	-	1	17402255	17402255	C	T	snp	synonymous SNV	G1026A	A342A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs3818032	0.525958	0.6151	0.6133	1	0	0	exonic	exonic	exonic	PADI2	PADI2	ENSG00000117115	synonymous SNV	synonymous SNV	synonymous SNV	PADI2:NM_007365:exon12:c.G1374A:p.A458A,	PADI2:uc010ocm.2:exon9:c.G1026A:p.A342A,PADI2:uc001baf.3:exon12:c.G1374A:p.A458A,	ENSG00000117115:ENST00000444885:exon9:c.G1026A:p.A342A,ENSG00000117115:ENST00000375486:exon12:c.G1374A:p.A458A,	Het;C>T	2700;156|134	Hom;C>T	6416;2|245
N	N	-	1	17402418	17402418	A	G	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs3818031	0.526158	0	0	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;A>G	446;15|16	Hom;A>G	884;0|22
N	N	-	1	17405809	17405809	G	A	snp	synonymous SNV	C912T	N304N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs2057096	0.434505	0.5048	0.5377	1	0	0	exonic	exonic	exonic	PADI2	PADI2	ENSG00000117115	synonymous SNV	synonymous SNV	synonymous SNV	PADI2:NM_007365:exon11:c.C1260T:p.N420N,	PADI2:uc010ocm.2:exon8:c.C912T:p.N304N,PADI2:uc001baf.3:exon11:c.C1260T:p.N420N,PADI2:uc001bag.1:exon11:c.C1260T:p.N420N,	ENSG00000117115:ENST00000375481:exon11:c.C1260T:p.N420N,ENSG00000117115:ENST00000444885:exon8:c.C912T:p.N304N,ENSG00000117115:ENST00000375486:exon11:c.C1260T:p.N420N,	Het;G>A	1049;46|51	Hom;G>A	3064;0|113
N	N	-	1	17405916	17405916	C	T	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs2057095	0.434105	0.5045	0.5382	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;C>T	788;39|37	Hom;C>T	2715;0|76
N	N	-	1	17405949	17405949	C	T	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs2057094	0.504792	0.5694	0.5560	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;C>T	497;29|24	Hom;C>T	1976;0|45
N	N	-	1	17410364	17410364	G	A	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs1883913	0.42472	0.4920	0.5350	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;G>A	1012;60|47	Hom;G>A	1910;2|71
N	N	-	1	17418894	17418894	A	G	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs2273111	0.48722	0.5689	0.5613	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;A>G	1081;47|47	Hom;A>G	1949;2|66
N	N	-	1	17419066	17419066	T	C	snp	intronic	 	 	 	 	PADI2	Padi2	ENSG00000117115	peptidyl arginine deiminase 2	chr1:17393256-17445948	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	schizophrenia; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE.	Neutrophil degranulation	GO:0006325;chromatin organization;TAS|GO:0010848;regulation of chromatin disassembly;IDA|GO:0018101;protein citrullination;IDA|GO:0021762;substantia nigra development;IEP|GO:0030520;intracellular estrogen receptor signaling pathway;IMP|GO:0036413;histone H3-R26 citrullination;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048096;chromatin-mediated maintenance of transcription;IMP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IDA|GO:1901624;negative regulation of lymphocyte chemotaxis;IDA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PADI2	https://www.uniprot.org/uniprot/Q9Y2J8		https://www.ncbi.nlm.nih.gov/omim/?term=607935	http://www.informatics.jax.org/searchtool/Search.do?query=PADI2&submit=Quick%0D%4836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI2	rs11203298	0.48742	0.5692	0.5646	1	0	0	intronic	intronic	intronic	PADI2	PADI2	ENSG00000117115	Na	Na	Na	Na	Na	Na	Het;T>C	1247;40|56	Hom;T>C	2955;0|106
N	N	-	1	175086461	175086461	A	G	snp	intronic	 	 	 	 	TNN	Tnn	ENSG00000120332	tenascin N	chr1:175036994-175117202		Alcoholism	 	ECM proteoglycans	GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNN	https://www.uniprot.org/uniprot/Q9UQP3		https://www.ncbi.nlm.nih.gov/omim/?term=617472	http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN	rs6690229	0.647963	0	0	1	0	0	intronic	intronic	intronic	TNN	TNN	ENSG00000120332	Na	Na	Na	Na	Na	Na	Het;A>G	206;5|7	Hom;A>G	331;0|12
N	N	-	1	175087884	175087884	C	T	snp	synonymous SNV	C2574T	G858G	aliphatic,neutral	aliphatic,neutral	TNN	Tnn	ENSG00000120332	tenascin N	chr1:175036994-175117202		Alcoholism	 	ECM proteoglycans	GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNN	https://www.uniprot.org/uniprot/Q9UQP3		https://www.ncbi.nlm.nih.gov/omim/?term=617472	http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN	rs2269654	0.172923	0.0941	0.1745	1	0	0	exonic	exonic	exonic	TNN	TNN	ENSG00000120332	synonymous SNV	synonymous SNV	unknown	TNN:NM_022093:exon11:c.C2574T:p.G858G,	TNN:uc001gkl.1:exon11:c.C2574T:p.G858G,	UNKNOWN	Het;C>T	3049;51|77	Hom;C>T	4935;0|110
N	N	-	1	175087885	175087885	A	G	snp	nonsynonymous SNV	A2575G	M859V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TNN	Tnn	ENSG00000120332	tenascin N	chr1:175036994-175117202		Alcoholism	 	ECM proteoglycans	GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNN	https://www.uniprot.org/uniprot/Q9UQP3		https://www.ncbi.nlm.nih.gov/omim/?term=617472	http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN	rs6694078	0.172923	0.0990	0.1747	0.08	1	13	exonic	exonic	exonic	TNN	TNN	ENSG00000120332	nonsynonymous SNV	nonsynonymous SNV	unknown	TNN:NM_022093:exon11:c.A2575G:p.M859V,	TNN:uc001gkl.1:exon11:c.A2575G:p.M859V,	UNKNOWN	Het;A>G	3049;52|77	Hom;A>G	4935;0|111
N	N	-	1	175293424	175293424	T	C	snp	ncRNA_intronic	 	 	 	 	Z94057.1																		rs2213635	0.766174	0	0	1	0	0	intronic	intronic	ncRNA_intronic	TNR	TNR	ENSG00000260990	Na	Na	Na	Na	Na	Na	Het;T>C	112;3|4	Hom;T>C	534;0|18
N	N	-	1	175299301	175299301	T	C	snp	synonymous SNV	A3702G	Q1234Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TNR	Tnr	ENSG00000116147	tenascin R	chr1:175284330-175712906	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]	schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure	In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.	ECM proteoglycans	GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TNR	https://www.uniprot.org/uniprot/Q92752		https://www.ncbi.nlm.nih.gov/omim/?term=601995	http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR	rs2027867	0.765974	0.7510	0.7452	1	0	0	exonic	exonic	exonic	TNR	TNR	ENSG00000116147	synonymous SNV	synonymous SNV	unknown	TNR:NM_003285:exon21:c.A3702G:p.Q1234Q,	TNR:uc001gkp.1:exon19:c.A3702G:p.Q1234Q,TNR:uc009wwu.1:exon21:c.A3702G:p.Q1234Q,	UNKNOWN	Het;T>C	1266;41|57	Hom;T>C	1537;0|55
N	N	-	1	175323446	175323446	A	G	snp	intronic	 	 	 	 	TNR	Tnr	ENSG00000116147	tenascin R	chr1:175284330-175712906	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]	schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure	In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.	ECM proteoglycans	GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TNR	https://www.uniprot.org/uniprot/Q92752		https://www.ncbi.nlm.nih.gov/omim/?term=601995	http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR	rs2301432	0.748203	0	0	1	0	0	intronic	intronic	intronic	TNR	TNR	ENSG00000116147	Na	Na	Na	Na	Na	Na	Het;A>G	518;16|22	Hom;A>G	756;2|27
N	N	-	1	175324518	175324520	GCA	G	indel	intronic	 	 	 	 	TNR	Tnr	ENSG00000116147	tenascin R	chr1:175284330-175712906	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]	schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure	In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.	ECM proteoglycans	GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TNR	https://www.uniprot.org/uniprot/Q92752		https://www.ncbi.nlm.nih.gov/omim/?term=601995	http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR	rs55715761	0.678315	0	0	1	0	0	intronic	intronic	intronic	TNR	TNR	ENSG00000116147	Na	Na	Na	Na	Na	Na	Het;-CA	122;3|4	Hom;-CA	143;0|4
N	N	-	1	175324521	175324521	A	T	snp	intronic	 	 	 	 	TNR	Tnr	ENSG00000116147	tenascin R	chr1:175284330-175712906	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]	schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure	In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.	ECM proteoglycans	GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TNR	https://www.uniprot.org/uniprot/Q92752		https://www.ncbi.nlm.nih.gov/omim/?term=601995	http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR	rs55973835	0.678315	0	0	1	0	0	intronic	intronic	intronic	TNR	TNR	ENSG00000116147	Na	Na	Na	Na	Na	Na	Het;A>T	131;3|4	Hom;A>T	152;0|4
N	N	-	1	175324651	175324651	A	G	snp	synonymous SNV	T3237C	D1079D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TNR	Tnr	ENSG00000116147	tenascin R	chr1:175284330-175712906	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]	schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure	In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.	ECM proteoglycans	GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TNR	https://www.uniprot.org/uniprot/Q92752		https://www.ncbi.nlm.nih.gov/omim/?term=601995	http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR	rs2228359	0.665735	0.6355	0.6892	1	0	0	exonic	exonic	exonic	TNR	TNR	ENSG00000116147	synonymous SNV	synonymous SNV	unknown	TNR:NM_003285:exon17:c.T3237C:p.D1079D,	TNR:uc001gkp.1:exon15:c.T3237C:p.D1079D,TNR:uc009wwu.1:exon17:c.T3237C:p.D1079D,	UNKNOWN	Het;A>G	334;20|16	Hom;A>G	1206;0|44
N	N	-	1	175335412	175335412	A	C	snp	intronic	 	 	 	 	TNR	Tnr	ENSG00000116147	tenascin R	chr1:175284330-175712906	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]	schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure	In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.	ECM proteoglycans	GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TNR	https://www.uniprot.org/uniprot/Q92752		https://www.ncbi.nlm.nih.gov/omim/?term=601995	http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR	rs1385540	0.79393	0	0	1	0	0	intronic	intronic	intronic	TNR	TNR	ENSG00000116147	Na	Na	Na	Na	Na	Na	Het;A>C	181;7|6	Hom;A>C	302;0|8
N	N	-	1	17555316	17555316	C	G	snp	intronic	 	 	 	 	PADI1	Padi1	ENSG00000281459	peptidyl arginine deiminase 1	chr1:17531621-17572500	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	Macular Degeneration	 	Chromatin modifying enzymes	GO:0006325;chromatin organization;TAS|GO:0018101;protein citrullination;IEA|GO:0036414;histone citrullination;IBA	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PADI1	https://www.uniprot.org/uniprot/Q9ULC6		https://www.ncbi.nlm.nih.gov/omim/?term=607934	http://www.informatics.jax.org/searchtool/Search.do?query=PADI1&submit=Quick%0D%22304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI1	rs2977233	0.295527	0.3757	0.3579	1	0	0	intronic	intronic	intronic	PADI1	PADI1	ENSG00000142623	Na	Na	Na	Na	Na	Na	Het;C>G	156;15|9	Hom;C>G	812;1|27
N	N	-	1	17555508	17555508	G	T	snp	synonymous SNV	G891T	T297T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PADI1	Padi1	ENSG00000281459	peptidyl arginine deiminase 1	chr1:17531621-17572500	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]	Macular Degeneration	 	Chromatin modifying enzymes	GO:0006325;chromatin organization;TAS|GO:0018101;protein citrullination;IEA|GO:0036414;histone citrullination;IBA	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004668;protein-arginine deiminase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PADI1	https://www.uniprot.org/uniprot/Q9ULC6		https://www.ncbi.nlm.nih.gov/omim/?term=607934	http://www.informatics.jax.org/searchtool/Search.do?query=PADI1&submit=Quick%0D%22304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI1	rs2977234	0.214457	0.2831	0.3318	1	0	0	exonic	exonic	exonic	PADI1	PADI1	ENSG00000142623	synonymous SNV	synonymous SNV	synonymous SNV	PADI1:NM_013358:exon8:c.G891T:p.T297T,	PADI1:uc001bah.1:exon8:c.G891T:p.T297T,	ENSG00000142623:ENST00000375471:exon8:c.G891T:p.T297T,	Het;G>T	880;86|47	Hom;G>T	3407;1|130
N	N	-	1	175848088	175848088	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101928751																		rs578140	0.799321	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928751	TNR(dist=135336),RFWD2(dist=65879)	ENSG00000224718	Na	Na	Na	Na	Na	Na	Het;G>A	2449;109|113	Hom;G>A	5353;0|197
N	N	-	1	175848386	175848386	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101928751																		rs546837	0.799321	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928751	TNR(dist=135634),RFWD2(dist=65581)	ENSG00000224718	Na	Na	Na	Na	Na	Na	Het;C>T	1496;112|77	Hom;C>T	3608;0|133
N	N	-	1	17681277	17681277	T	C	snp	intronic	 	 	 	 	PADI4	Padi4	ENSG00000280908	peptidyl arginine deiminase 4	chr1:17634690-17690499	This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]	Basal cell carcinoma (cutaneous); schizophrenia; Arthritis, Rheumatoid; rheumatoid arthritis; Arthritis, Rheumatoid|; diabetes, type 1; Autoimmune Diseases|Graft vs Host Disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatoid spondylitis|Spondylitis, Ankylosing; anti-cyclic citrullinated peptide antibodies rheumatoid arthritis; Arthritis, Rheumatoid|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Rheumatoid Arthritis; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; polyarthritis; Rheumatic Diseases|Rheumatism; smoking; multiple sclerosis; rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease	Homozygous mice are viable albeit reduced number than expected were born from heterozygous crosses, and shows decreased antibacterial immune responses. Mice homozygous for a different knock-out allele exhibit decreased weight loss in response to viral infection.	Chromatin modifying enzymes	GO:0002376;immune system process;IEA|GO:0006325;chromatin organization;TAS|GO:0006334;nucleosome assembly;ISS|GO:0006338;chromatin remodeling;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0018101;protein citrullination;IEA|GO:0019546;arginine deiminase pathway;IMP|GO:0019827;stem cell population maintenance;ISS|GO:0036413;histone H3-R26 citrullination;IDA|GO:0036414;histone citrullination;IDA|GO:0045087;innate immune response;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IMP	GO:0004668;protein-arginine deiminase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016990;arginine deiminase activity;IDA|GO:0034618;arginine binding;IMP|GO:0042803;protein homodimerization activity;IMP|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PADI4			https://www.ncbi.nlm.nih.gov/omim/?term=605347	http://www.informatics.jax.org/searchtool/Search.do?query=PADI4&submit=Quick%0D%22253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI4	rs6683201	0.775359	0	0	1	0	0	intronic	intronic	intronic	PADI4	PADI4	ENSG00000159339	Na	Na	Na	Na	Na	Na	Het;T>C	141;8|5	Hom;T>C	520;0|14
N	N	-	1	17683041	17683041	T	C	snp	intronic	 	 	 	 	PADI4	Padi4	ENSG00000280908	peptidyl arginine deiminase 4	chr1:17634690-17690499	This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]	Basal cell carcinoma (cutaneous); schizophrenia; Arthritis, Rheumatoid; rheumatoid arthritis; Arthritis, Rheumatoid|; diabetes, type 1; Autoimmune Diseases|Graft vs Host Disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatoid spondylitis|Spondylitis, Ankylosing; anti-cyclic citrullinated peptide antibodies rheumatoid arthritis; Arthritis, Rheumatoid|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Rheumatoid Arthritis; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; polyarthritis; Rheumatic Diseases|Rheumatism; smoking; multiple sclerosis; rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease	Homozygous mice are viable albeit reduced number than expected were born from heterozygous crosses, and shows decreased antibacterial immune responses. Mice homozygous for a different knock-out allele exhibit decreased weight loss in response to viral infection.	Chromatin modifying enzymes	GO:0002376;immune system process;IEA|GO:0006325;chromatin organization;TAS|GO:0006334;nucleosome assembly;ISS|GO:0006338;chromatin remodeling;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0018101;protein citrullination;IEA|GO:0019546;arginine deiminase pathway;IMP|GO:0019827;stem cell population maintenance;ISS|GO:0036413;histone H3-R26 citrullination;IDA|GO:0036414;histone citrullination;IDA|GO:0045087;innate immune response;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IMP	GO:0004668;protein-arginine deiminase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016990;arginine deiminase activity;IDA|GO:0034618;arginine binding;IMP|GO:0042803;protein homodimerization activity;IMP|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PADI4			https://www.ncbi.nlm.nih.gov/omim/?term=605347	http://www.informatics.jax.org/searchtool/Search.do?query=PADI4&submit=Quick%0D%22253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI4	rs1635567	0.752995	0	0	1	0	0	intronic	intronic	intronic	PADI4	PADI4	ENSG00000159339	Na	Na	Na	Na	Na	Na	Het;T>C	439;11|20	Hom;T>C	627;0|23
N	N	-	1	177198998	177198998	T	C	snp	UTR5	-15T>C	 	 	 	FAM5B																		rs3176441	0.15595	0.2497	0.2004	1	0	0	UTR5	UTR5	UTR5	BRINP2(NM_021165:c.-15T>C)	FAM5B(uc001glf.3:c.-15T>C)	ENSG00000198797(ENST00000361539:c.-15T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	858;36|37	Hom;T>C	1870;0|63
N	N	-	1	177250670	177250670	G	A	snp	UTR3	*6G>A	 	 	 	BRINP2	Brinp2	ENSG00000198797	BMP/retinoic acid inducible neural specific 2	chr1:177140633-177251558		Cholesterol; Blood Pressure; HIV Infections|[X]Human immunodeficiency virus disease; Cholesterol, LDL; Alcohol Drinking; Body Weight; Forced Vital Capacity; Body Mass Index; Menarche	 		GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0030425;dendrite;IBA|GO:0043025;neuronal cell body;IBA		http://www.genecards.org/index.php?path=/Search/keyword/BRINP2				http://www.informatics.jax.org/searchtool/Search.do?query=BRINP2&submit=Quick%0D%17011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRINP2	rs1045736	0.105631	0.1997	0.1937	1	0	0	UTR3	UTR3	UTR3	BRINP2(NM_021165:c.*6G>A)	FAM5B(uc001glf.3:c.*6G>A,uc001glg.3:c.*6G>A)	ENSG00000198797(ENST00000361539:c.*6G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	822;31|37	Hom;G>A	2292;0|80
N	N	-	1	177728421	177728435	CAGAGAGAGAGAGAG	C	indel	intergenic	 	 	 	 	LINC01741																		rs149937591	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928778(dist=48956),SEC16B(dist=169807)	FAM5B(dist=476863),SEC16B(dist=169054)	ENSG00000236720(dist=48956),ENSG00000254154(dist=169488)	Na	Na	Na	Na	Na	Na	Het;-AGAGAGAGAGAGAG	41;2|2	Hom;-AGAGAGAGAGAGAG	188;0|5
N	N	-	1	177995470	177995470	C	A	snp	ncRNA_intronic	 	 	 	 	LOC730102																		rs1415082	0.908147	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC730102	LOC730102	ENSG00000242193,ENSG00000254154	Na	Na	Na	Na	Na	Na	Het;C>A	340;14|15	Hom;C>A	624;0|23
N	N	-	1	178514560	178514560	A	AT	indel	unknown	 	 	 	 	C1orf220																		rs34632529	0.382987	0	0.4854	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	C1orf220	C1orf220	ENSG00000213057	Na	Na	unknown	Na	Na	UNKNOWN	Het;+T	2086;99|86	Hom;+T	6431;2|207
N	N	-	1	178515135	178515135	A	T	snp	ncRNA_intronic	 	 	 	 	C1orf220																		rs4650992	0.383187	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	C1orf220	C1orf220	ENSG00000184909,ENSG00000213057,ENSG00000240021	Na	Na	Na	Na	Na	Na	Het;A>T	340;8|14	Hom;A>T	320;0|11
N	N	-	1	178517316	178517316	C	T	snp	ncRNA_exonic	 	 	 	 	C1orf220																		rs4650995	0.382987	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	C1orf220	C1orf220	ENSG00000184909(ENST00000367636:c.*1107C>T),ENSG00000213057(ENST00000319387:c.*1566C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	2297;95|109	Hom;C>T	3906;0|140
N	N	-	1	17914846	17914846	C	T	snp	intronic	 	 	 	 	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs1193343	0.732228	0	0	1	0	0	intronic	intronic	intronic	ARHGEF10L	ARHGEF10L	ENSG00000074964	Na	Na	Na	Na	Na	Na	Het;C>T	60;10|5	Hom;C>T	421;0|15
N	N	-	1	179339262	179339262	C	G	snp	intronic	 	 	 	 	AXDND1	Axdnd1	ENSG00000162779	axonemal dynein light chain domain containing 1	chr1:179334855-179523870		multiple sclerosis (age of onset); Tobacco Use Disorder; Hypertension; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis	 					http://www.genecards.org/index.php?path=/Search/keyword/AXDND1				http://www.informatics.jax.org/searchtool/Search.do?query=AXDND1&submit=Quick%0D%10802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AXDND1	rs16854009	0.165935	0.0838	0.1450	1	0	0	intronic	intronic	intronic	AXDND1	AXDND1	ENSG00000162779	Na	Na	Na	Na	Na	Na	Het;C>G	983;72|47	Hom;C>G	3207;0|115
N	N	-	1	179352736	179352736	T	C	snp	intronic	 	 	 	 	AXDND1	Axdnd1	ENSG00000162779	axonemal dynein light chain domain containing 1	chr1:179334855-179523870		multiple sclerosis (age of onset); Tobacco Use Disorder; Hypertension; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis	 					http://www.genecards.org/index.php?path=/Search/keyword/AXDND1				http://www.informatics.jax.org/searchtool/Search.do?query=AXDND1&submit=Quick%0D%10802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AXDND1	rs4077551	0.172524	0	0	1	0	0	intronic	intronic	intronic	AXDND1	AXDND1	ENSG00000162779	Na	Na	Na	Na	Na	Na	Het;T>C	764;43|36	Hom;T>C	1958;0|66
N	N	-	1	179364372	179364372	G	C	snp	intronic	 	 	 	 	AXDND1	Axdnd1	ENSG00000162779	axonemal dynein light chain domain containing 1	chr1:179334855-179523870		multiple sclerosis (age of onset); Tobacco Use Disorder; Hypertension; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis	 					http://www.genecards.org/index.php?path=/Search/keyword/AXDND1				http://www.informatics.jax.org/searchtool/Search.do?query=AXDND1&submit=Quick%0D%10802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AXDND1	rs12405133	0.15635	0.0728	0.1286	1	0	0	intronic	intronic	intronic	AXDND1	AXDND1	ENSG00000162779	Na	Na	Na	Na	Na	Na	Het;G>C	887;26|42	Hom;G>C	1508;0|56
N	N	-	1	179380519	179380519	G	T	snp	intronic	 	 	 	 	AXDND1	Axdnd1	ENSG00000162779	axonemal dynein light chain domain containing 1	chr1:179334855-179523870		multiple sclerosis (age of onset); Tobacco Use Disorder; Hypertension; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis	 					http://www.genecards.org/index.php?path=/Search/keyword/AXDND1				http://www.informatics.jax.org/searchtool/Search.do?query=AXDND1&submit=Quick%0D%10802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AXDND1	rs10798676	0.173522	0	0	1	0	0	intronic	intronic	intronic	AXDND1	AXDND1	ENSG00000162779	Na	Na	Na	Na	Na	Na	Het;G>T	58;5|3	Hom;G>T	349;0|11
N	N	-	1	179401503	179401503	G	A	snp	intronic	 	 	 	 	AXDND1	Axdnd1	ENSG00000162779	axonemal dynein light chain domain containing 1	chr1:179334855-179523870		multiple sclerosis (age of onset); Tobacco Use Disorder; Hypertension; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis	 					http://www.genecards.org/index.php?path=/Search/keyword/AXDND1				http://www.informatics.jax.org/searchtool/Search.do?query=AXDND1&submit=Quick%0D%10802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AXDND1	rs12097041	0.173522	0.0982	0.1882	1	0	0	intronic	intronic	intronic	AXDND1	AXDND1	ENSG00000162779	Na	Na	Na	Na	Na	Na	Het;G>A	463;25|24	Hom;G>A	1324;0|51
N	N	-	1	179426175	179426180	CCTGGT	C	indel	ncRNA_exonic	 	 	 	 	HNRNPA1P54																		rs137970202	0.160144	0	0	1	0	0	intronic	intronic	ncRNA_exonic	AXDND1	AXDND1	ENSG00000236539	Na	Na	Na	Na	Na	Na	Het;-CTGGT	734;23|20	Hom;-CTGGT	1178;0|27
N	N	-	1	179426240	179426240	T	C	snp	ncRNA_exonic	 	 	 	 	HNRNPA1P54																		rs12740270	0.191494	0	0	1	0	0	intronic	intronic	ncRNA_exonic	AXDND1	AXDND1	ENSG00000236539	Na	Na	Na	Na	Na	Na	Het;T>C	325;21|16	Hom;T>C	859;0|28
N	N	-	1	179426347	179426347	A	G	snp	ncRNA_exonic	 	 	 	 	HNRNPA1P54																		rs12736300	0.226238	0	0	1	0	0	intronic	intronic	ncRNA_exonic	AXDND1	AXDND1	ENSG00000236539	Na	Na	Na	Na	Na	Na	Het;A>G	74;5|4	Hom;A>G	265;0|8
N	N	-	1	179426390	179426390	T	C	snp	ncRNA_exonic	 	 	 	 	HNRNPA1P54																		rs12740455	0.226837	0	0	1	0	0	intronic	intronic	ncRNA_exonic	AXDND1	AXDND1	ENSG00000236539	Na	Na	Na	Na	Na	Na	Het;T>C	84;3|5	Hom;T>C	157;0|6
N	N	-	1	179452275	179452275	G	A	snp	synonymous SNV	G2010A	A670A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AXDND1	Axdnd1	ENSG00000162779	axonemal dynein light chain domain containing 1	chr1:179334855-179523870		multiple sclerosis (age of onset); Tobacco Use Disorder; Hypertension; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis	 					http://www.genecards.org/index.php?path=/Search/keyword/AXDND1				http://www.informatics.jax.org/searchtool/Search.do?query=AXDND1&submit=Quick%0D%10802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AXDND1	rs10494520	0.195288	0.1239	0.1537	0.25	1	4	exonic	exonic	exonic	AXDND1	AXDND1	ENSG00000162779	synonymous SNV	synonymous SNV	unknown	AXDND1:NM_144696:exon18:c.G2010A:p.A670A,	AXDND1:uc001gmo.3:exon18:c.G2010A:p.A670A,AXDND1:uc021pfj.1:exon16:c.G1884A:p.A628A,	UNKNOWN	Het;G>A	1354;53|66	Hom;G>A	2386;0|91
N	N	-	1	17964288	17964288	C	T	snp	intronic	 	 	 	 	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs7521850	0.0832668	0	0	1	0	0	intronic	intronic	intronic	ARHGEF10L	ARHGEF10L	ENSG00000074964	Na	Na	Na	Na	Na	Na	Het;C>T	440;13|16	Hom;C>T	653;0|21
N	N	-	1	17964617	17964617	C	T	snp	intronic	 	 	 	 	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs7522176	0.0964457	0	0	1	0	0	intronic	intronic	intronic	ARHGEF10L	ARHGEF10L	ENSG00000074964	Na	Na	Na	Na	Na	Na	Het;C>T	224;10|9	Hom;C>T	477;0|16
N	N	-	1	17981184	17981184	A	C	snp	synonymous SNV	A1731C	A577A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs35255680	0.190296	0.2020	0.1748	1	0	0	exonic	exonic	exonic	ARHGEF10L	ARHGEF10L	ENSG00000074964	synonymous SNV	synonymous SNV	synonymous SNV	ARHGEF10L:NM_018125:exon23:c.A2448C:p.A816A,ARHGEF10L:NM_001011722:exon21:c.A2331C:p.A777A,	ARHGEF10L:uc001baq.3:exon14:c.A1731C:p.A577A,ARHGEF10L:uc001bar.3:exon12:c.A1557C:p.A519A,ARHGEF10L:uc009vpe.1:exon22:c.A2331C:p.A777A,ARHGEF10L:uc001bap.3:exon20:c.A2316C:p.A772A,ARHGEF10L:uc001bao.3:exon21:c.A2331C:p.A777A,ARHGEF10L:uc001ban.3:exon23:c.A2448C:p.A816A,ARHGEF10L:uc010ocs.2:exon14:c.A1767C:p.A589A,	ENSG00000074964:ENST00000167825:exon12:c.A1557C:p.A519A,ENSG00000074964:ENST00000375415:exon21:c.A2331C:p.A777A,ENSG00000074964:ENST00000361221:exon23:c.A2448C:p.A816A,ENSG00000074964:ENST00000375408:exon14:c.A1767C:p.A589A,ENSG00000074964:ENST00000434513:exon22:c.A2433C:p.A811A,ENSG00000074964:ENST00000452522:exon22:c.A2331C:p.A777A,	Het;A>C	982;70|49	Hom;A>C	3388;2|131
N	N	-	1	179816816	179816816	T	A	snp	intronic	 	 	 	 	TOR1AIP2	Tor1aip2	ENSG00000169905	torsin 1A interacting protein 2	chr1:179809102-179846938			 		GO:0007029;endoplasmic reticulum organization;IMP|GO:0032781;positive regulation of ATPase activity;IDA|GO:0090435;protein localization to nuclear envelope;IDA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0001671;ATPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TOR1AIP2			https://www.ncbi.nlm.nih.gov/omim/?term=614513	http://www.informatics.jax.org/searchtool/Search.do?query=TOR1AIP2&submit=Quick%0D%12592ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOR1AIP2	rs7531195	0.091853	0.1286	0.1210	1	0	0	intronic	intronic	intronic	TOR1AIP2	TOR1AIP2	ENSG00000169905	Na	Na	Na	Na	Na	Na	Het;T>A	752;53|38	Hom;T>A	2026;4|78
N	N	-	1	17982559	17982559	G	A	snp	synonymous SNV	G1950A	T650T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs867984	0.104633	0.1144	0.1835	1	0	0	exonic	exonic	exonic	ARHGEF10L	ARHGEF10L	ENSG00000074964	synonymous SNV	synonymous SNV	synonymous SNV	ARHGEF10L:NM_018125:exon24:c.G2667A:p.T889T,ARHGEF10L:NM_001011722:exon22:c.G2550A:p.T850T,	ARHGEF10L:uc001baq.3:exon15:c.G1950A:p.T650T,ARHGEF10L:uc001bar.3:exon13:c.G1776A:p.T592T,ARHGEF10L:uc009vpe.1:exon23:c.G2550A:p.T850T,ARHGEF10L:uc001bap.3:exon21:c.G2535A:p.T845T,ARHGEF10L:uc001bao.3:exon22:c.G2550A:p.T850T,ARHGEF10L:uc001ban.3:exon24:c.G2667A:p.T889T,ARHGEF10L:uc010ocs.2:exon15:c.G1986A:p.T662T,	ENSG00000074964:ENST00000167825:exon13:c.G1776A:p.T592T,ENSG00000074964:ENST00000375415:exon22:c.G2550A:p.T850T,ENSG00000074964:ENST00000361221:exon24:c.G2667A:p.T889T,ENSG00000074964:ENST00000375408:exon15:c.G1986A:p.T662T,ENSG00000074964:ENST00000434513:exon23:c.G2652A:p.T884T,ENSG00000074964:ENST00000452522:exon23:c.G2550A:p.T850T,	Het;G>A	1241;33|53	Hom;G>A	1893;0|67
N	N	-	1	17991196	17991196	A	G	snp	intronic	 	 	 	 	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs11203432	0.20008	0	0	1	0	0	intronic	intronic	intronic	ARHGEF10L	ARHGEF10L	ENSG00000074964	Na	Na	Na	Na	Na	Na	Het;A>G	417;15|17	Hom;A>G	625;0|22
N	N	-	1	179992076	179992076	A	G	snp	intronic	 	 	 	 	CEP350	Cep350	ENSG00000135837	centrosomal protein 350	chr1:179923873-180084015	The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 		GO:0034453;microtubule anchoring;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP350	https://www.uniprot.org/uniprot/Q5VT06			http://www.informatics.jax.org/searchtool/Search.do?query=CEP350&submit=Quick%0D%7229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP350	rs2477117	0.801518	0	0	1	0	0	intronic	intronic	intronic	CEP350	CEP350	ENSG00000135837	Na	Na	Na	Na	Na	Na	Het;A>G	454;7|17	Hom;A>G	673;0|22
N	N	-	1	180010702	180010702	T	C	snp	intronic	 	 	 	 	CEP350	Cep350	ENSG00000135837	centrosomal protein 350	chr1:179923873-180084015	The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 		GO:0034453;microtubule anchoring;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP350	https://www.uniprot.org/uniprot/Q5VT06			http://www.informatics.jax.org/searchtool/Search.do?query=CEP350&submit=Quick%0D%7229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP350	rs4652461	0.80012	0	0	1	0	0	intronic	intronic	intronic	CEP350	CEP350	ENSG00000135837	Na	Na	Na	Na	Na	Na	Het;T>C	317;9|11	Hom;T>C	537;0|18
N	N	-	1	18006550	18006550	T	C	snp	intronic	 	 	 	 	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs12742948	0.222843	0	0	1	0	0	intronic	intronic	intronic	ARHGEF10L	ARHGEF10L	ENSG00000074964	Na	Na	Na	Na	Na	Na	Het;T>C	69;4|5	Hom;T>C	546;0|21
N	N	-	1	18006619	18006619	G	A	snp	intronic	 	 	 	 	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs12754031	0.117612	0	0	1	0	0	intronic	intronic	intronic	ARHGEF10L	ARHGEF10L	ENSG00000074964	Na	Na	Na	Na	Na	Na	Het;G>A	71;5|4	Hom;G>A	382;0|16
N	N	-	1	180124379	180124379	T	C	snp	intronic	 	 	 	 	QSOX1	Qsox1	ENSG00000116260	quiescin sulfhydryl oxidase 1	chr1:180123969-180173165	This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Homozygotes for an ENU-induced mutation show cardiovascular phenotypes including persistent truncus arteriosus, atriventricular septal defects and vascular ring, as well as eye defects, short snout, micrognathia, cleft palate, tracheosophageal fistula, polydactyly and spleen hypoplasia.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0016242;negative regulation of macroautophagy;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005623;cell;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045171;intercellular bridge;IDA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS	GO:0003756;protein disulfide isomerase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016971;flavin-linked sulfhydryl oxidase activity;IDA|GO:0016972;thiol oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/QSOX1	https://www.uniprot.org/uniprot/O00391		https://www.ncbi.nlm.nih.gov/omim/?term=603120	http://www.informatics.jax.org/searchtool/Search.do?query=QSOX1&submit=Quick%0D%4730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QSOX1	rs35481032	0.486222	0	0	1	0	0	intronic	intronic	intronic	QSOX1	QSOX1	ENSG00000116260	Na	Na	Na	Na	Na	Na	Het;T>C	96;8|4	Hom;T>C	356;0|13
N	N	-	1	18021858	18021858	T	C	snp	intronic	 	 	 	 	ARHGEF10L	Arhgef10l	ENSG00000074964	Rho guanine nucleotide exchange factor 10 like	chr1:17866330-18024369	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]	Body Height; Tobacco Use Disorder; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Basal cell carcinoma (cutaneous); coronary spastic angina	 	G alpha (12/13) signalling events	GO:0032933;SREBP signaling pathway;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10L	https://www.uniprot.org/uniprot/Q9HCE6		https://www.ncbi.nlm.nih.gov/omim/?term=612494	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10L&submit=Quick%0D%1520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10L	rs2279817	0.0886581	0	0	1	0	0	intronic	intronic	intronic	ARHGEF10L	ARHGEF10L	ENSG00000074964	Na	Na	Na	Na	Na	Na	Het;T>C	518;6|20	Hom;T>C	798;0|27
N	N	-	1	180240106	180240106	T	C	snp	ncRNA_exonic	 	 	 	 	LHX4-AS1																		rs357043	0.620607	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LHX4-AS1	LOC100527964	ENSG00000230124	Na	Na	Na	Na	Na	Na	Het;T>C	1332;73|60	Hom;T>C	3430;0|120
N	N	-	1	181741301	181741301	C	T	snp	synonymous SNV	C5073T	N1691N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CACNA1E	Cacna1e	ENSG00000198216	calcium voltage-gated channel subunit alpha1 E	chr1:181382238-181777219	Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]	Migraine without Aura; Tobacco Use Disorder; Forced Expiratory Volume; Type 2 diabetes; Hyperparathyroidism, Secondary; Echocardiography; Hip; Migraine with Aura	Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.	Regulation of insulin secretion	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1E		https://hpo.jax.org/app/browse/search?q=CACNA1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601013	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1E&submit=Quick%0D%16849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1E	rs199930	0.245407	0.2487	0.2485	1	0	0	exonic	exonic	exonic	CACNA1E	CACNA1E	ENSG00000198216	synonymous SNV	synonymous SNV	unknown	CACNA1E:NM_000721:exon37:c.C5073T:p.N1691N,CACNA1E:NM_001205294:exon36:c.C5016T:p.N1672N,CACNA1E:NM_001205293:exon37:c.C5073T:p.N1691N,	CACNA1E:uc001gow.3:exon37:c.C5073T:p.N1691N,CACNA1E:uc009wxt.3:exon37:c.C5073T:p.N1691N,CACNA1E:uc001gox.1:exon18:c.C2751T:p.N917N,CACNA1E:uc009wxs.3:exon36:c.C5016T:p.N1672N,	UNKNOWN	Het;C>T	2083;156|105	Hom;C>T	5652;0|207
N	N	-	1	181752714	181752714	C	T	snp	intronic	 	 	 	 	CACNA1E	Cacna1e	ENSG00000198216	calcium voltage-gated channel subunit alpha1 E	chr1:181382238-181777219	Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]	Migraine without Aura; Tobacco Use Disorder; Forced Expiratory Volume; Type 2 diabetes; Hyperparathyroidism, Secondary; Echocardiography; Hip; Migraine with Aura	Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.	Regulation of insulin secretion	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1E		https://hpo.jax.org/app/browse/search?q=CACNA1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601013	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1E&submit=Quick%0D%16849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1E	rs74489861	0.052516	0	0	1	0	0	intronic	intronic	intronic	CACNA1E	CACNA1E	ENSG00000198216	Na	Na	Na	Na	Na	Na	Het;C>T	186;6|5	Hom;C>T	1361;0|30
N	N	-	1	181752735	181752735	C	T	snp	intronic	 	 	 	 	CACNA1E	Cacna1e	ENSG00000198216	calcium voltage-gated channel subunit alpha1 E	chr1:181382238-181777219	Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]	Migraine without Aura; Tobacco Use Disorder; Forced Expiratory Volume; Type 2 diabetes; Hyperparathyroidism, Secondary; Echocardiography; Hip; Migraine with Aura	Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.	Regulation of insulin secretion	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1E		https://hpo.jax.org/app/browse/search?q=CACNA1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601013	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1E&submit=Quick%0D%16849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1E	rs74342664	0.052516	0	0	1	0	0	intronic	intronic	intronic	CACNA1E	CACNA1E	ENSG00000198216	Na	Na	Na	Na	Na	Na	Het;C>T	248;7|8	Hom;C>T	1703;0|45
N	N	-	1	181762760	181762760	G	A	snp	intronic	 	 	 	 	CACNA1E	Cacna1e	ENSG00000198216	calcium voltage-gated channel subunit alpha1 E	chr1:181382238-181777219	Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]	Migraine without Aura; Tobacco Use Disorder; Forced Expiratory Volume; Type 2 diabetes; Hyperparathyroidism, Secondary; Echocardiography; Hip; Migraine with Aura	Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.	Regulation of insulin secretion	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1E		https://hpo.jax.org/app/browse/search?q=CACNA1E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601013	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1E&submit=Quick%0D%16849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1E	rs75408623	0.0383387	0.0482	0.0530	1	0	0	intronic	intronic	intronic	CACNA1E	CACNA1E	ENSG00000198216	Na	Na	Na	Na	Na	Na	Het;G>A	703;25|28	Hom;G>A	1043;0|38
N	N	-	1	182427659	182427659	C	T	snp	intronic	 	 	 	 	RGSL1	Rgsl1	ENSG00000121446	regulator of G protein signaling like 1	chr1:182419256-182529734		Alzheimer's disease	 	G alpha (z) signalling events	GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005096;GTPase activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RGSL1	https://www.uniprot.org/uniprot/A5PLK6		https://www.ncbi.nlm.nih.gov/omim/?term=611012	http://www.informatics.jax.org/searchtool/Search.do?query=RGSL1&submit=Quick%0D%5319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGSL1	rs1822271	0.304513	0	0	1	0	0	intronic	intronic	intronic	RGSL1	RGSL1	ENSG00000121446	Na	Na	Na	Na	Na	Na	Het;C>T	135;4|6	Hom;C>T	109;0|4
N	N	-	1	182443462	182443462	T	C	snp	synonymous SNV	T1321C	L441L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RGSL1	Rgsl1	ENSG00000121446	regulator of G protein signaling like 1	chr1:182419256-182529734		Alzheimer's disease	 	G alpha (z) signalling events	GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005096;GTPase activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RGSL1	https://www.uniprot.org/uniprot/A5PLK6		https://www.ncbi.nlm.nih.gov/omim/?term=611012	http://www.informatics.jax.org/searchtool/Search.do?query=RGSL1&submit=Quick%0D%5319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGSL1	rs649437	0.473842	0.3898	0.4097	1	0	0	exonic	exonic	exonic	RGSL1	RGSL1	ENSG00000121446	synonymous SNV	synonymous SNV	unknown	RGSL1:NM_001137669:exon6:c.T1216C:p.L406L,	RGSL1:uc021pfx.1:exon7:c.T1321C:p.L441L,RGSL1:uc009wxw.3:exon6:c.T1216C:p.L406L,	UNKNOWN	Het;T>C	1385;61|58	Hom;T>C	3705;0|127
N	N	-	1	182509598	182509598	T	C	snp	intronic	 	 	 	 	RGSL1	Rgsl1	ENSG00000121446	regulator of G protein signaling like 1	chr1:182419256-182529734		Alzheimer's disease	 	G alpha (z) signalling events	GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005096;GTPase activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RGSL1	https://www.uniprot.org/uniprot/A5PLK6		https://www.ncbi.nlm.nih.gov/omim/?term=611012	http://www.informatics.jax.org/searchtool/Search.do?query=RGSL1&submit=Quick%0D%5319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGSL1	rs76889128	0.0886581	0.0626	0.0982	1	0	0	intronic	intronic	intronic	RGSL1	RGSL1	ENSG00000121446	Na	Na	Na	Na	Na	Na	Het;T>C	265;25|13	Hom;T>C	1502;0|54
N	N	-	1	182854017	182854017	G	A	snp	intronic	 	 	 	 	DHX9	Dhx9	ENSG00000135829	DExH-box helicase 9	chr1:182808504-182856886	This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]	breast cancer 	Homozygotes die in embryonic stages with massive apoptotic cell death in embryonic ectodermal cells.	TRAF6 mediated NF-kB activation	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001649;osteoblast differentiation;IDA|GO:0006396;RNA processing;IBA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0048511;rhythmic process;IEA|GO:0070934;CRD-mediated mRNA stabilization;IMP|GO:1903608;protein localization to cytoplasmic stress granule;IMP	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0070937;CRD-mediated mRNA stability complex;IDA|GO:0097165;nuclear stress granule;IMP	GO:0000166;nucleotide binding;IEA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003724;RNA helicase activity;TAS|GO:0004003;ATP-dependent DNA helicase activity;TAS|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX9	https://www.uniprot.org/uniprot/Q08211		https://www.ncbi.nlm.nih.gov/omim/?term=603115	http://www.informatics.jax.org/searchtool/Search.do?query=DHX9&submit=Quick%0D%7227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX9	rs3130492	0.783946	0	0	1	0	0	intronic	intronic	intronic	DHX9	DHX9	ENSG00000135829	Na	Na	Na	Na	Na	Na	Het;G>A	298;21|13	Hom;G>A	1043;0|34
N	N	-	1	182992161	182992161	T	C	snp	upstream	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs11582514	0.519169	0	0	1	0	0	upstream	upstream	upstream	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;T>C	600;47|34	Hom;T>C	1740;0|63
N	N	-	1	182993025	182993025	C	T	snp	synonymous SNV	C174T	A58A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs10911194	0.519569	0.4805	0.5580	1	0	0	exonic	exonic	exonic	LAMC1	LAMC1	ENSG00000135862	synonymous SNV	synonymous SNV	unknown	LAMC1:NM_002293:exon1:c.C174T:p.A58A,	LAMC1:uc001gpx.3:exon1:c.C174T:p.A58A,LAMC1:uc001gpy.4:exon1:c.C174T:p.A58A,	UNKNOWN	Het;C>T	1014;31|46	Hom;C>T	1376;0|49
N	N	-	1	183072590	183072590	T	C	snp	synonymous SNV	T546C	C182C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2296288	0.531949	0.5052	0.5737	1	0	0	exonic	exonic	exonic	LAMC1	LAMC1	ENSG00000135862	synonymous SNV	synonymous SNV	unknown	LAMC1:NM_002293:exon2:c.T546C:p.C182C,	LAMC1:uc001gpx.3:exon2:c.T546C:p.C182C,LAMC1:uc001gpy.4:exon2:c.T546C:p.C182C,	UNKNOWN	Het;T>C	1796;95|85	Hom;T>C	5034;0|190
N	N	-	1	183077296	183077296	A	AG	indel	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs3835273	0.53135	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;+G	32;2|2	Hom;+G	417;0|11
N	N	-	1	183077615	183077615	C	T	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs3765521	0.505192	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;C>T	233;11|7	Hom;C>T	647;0|15
N	N	-	1	183077618	183077618	C	T	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs3765522	0.531749	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;C>T	233;9|7	Hom;C>T	647;0|15
N	N	-	1	183084607	183084607	A	G	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs3736888	0.530351	0.0351	0.5695	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>G	926;18|24	Hom;A>G	1291;0|28
N	N	-	1	183084608	183084608	C	A	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2027082	0.530351	0.0484	0.5695	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;C>A	926;18|24	Hom;C>A	1291;0|30
N	N	-	1	183085696	183085696	A	G	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs6424888	0.530152	0.5032	0.5727	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>G	186;17|10	Hom;A>G	857;0|31
N	N	-	1	183085755	183085755	A	G	snp	nonsynonymous SNV	A1372G	I458V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs20563	0.531749	0.5035	0.5725	0.08	1	13	exonic	exonic	exonic	LAMC1	LAMC1	ENSG00000135862	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMC1:NM_002293:exon7:c.A1372G:p.I458V,	LAMC1:uc001gpy.4:exon7:c.A1372G:p.I458V,	UNKNOWN	Het;A>G	548;51|28	Hom;A>G	2509;0|86
N	N	-	1	183086757	183086757	A	C	snp	synonymous SNV	A1776C	A592A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2296292	0.531749	0.5035	0.5724	1	0	0	exonic	exonic	exonic	LAMC1	LAMC1	ENSG00000135862	synonymous SNV	synonymous SNV	unknown	LAMC1:NM_002293:exon10:c.A1776C:p.A592A,	LAMC1:uc001gpy.4:exon10:c.A1776C:p.A592A,	UNKNOWN	Het;A>C	2144;86|90	Hom;A>C	4678;1|166
N	N	-	1	183090751	183090751	A	G	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2333621	0.531749	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>G	66;8|3	Hom;A>G	142;0|4
N	N	-	1	183093875	183093875	T	C	snp	synonymous SNV	T2511C	N837N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs20557	0.531749	0.5035	0.5724	1	0	0	exonic	exonic	exonic	LAMC1	LAMC1	ENSG00000135862	synonymous SNV	synonymous SNV	unknown	LAMC1:NM_002293:exon14:c.T2511C:p.N837N,	LAMC1:uc001gpy.4:exon14:c.T2511C:p.N837N,	UNKNOWN	Het;T>C	1817;80|88	Hom;T>C	4017;0|147
N	N	-	1	183094418	183094418	A	AC	indel	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs386368938	0.53155	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;+C	77;8|4	Hom;+C	539;0|15
N	N	-	1	183094547	183094547	T	C	snp	nonsynonymous SNV	T2663C	L888P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs20558	0.531749	0.5035	0.5723	0.23	3	13	exonic	exonic	exonic	LAMC1	LAMC1	ENSG00000135862	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMC1:NM_002293:exon15:c.T2663C:p.L888P,	LAMC1:uc001gpy.4:exon15:c.T2663C:p.L888P,	UNKNOWN	Het;T>C	757;69|37	Hom;T>C	2740;0|98
N	N	-	1	183095185	183095187	TAA	T	indel	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs398049833	0.489816	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;-AA	1067;23|41	Hom;-AA	1326;4|43
N	N	-	1	183095234	183095234	A	G	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs1886501	0.531749	0.5034	0.5748	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>G	1609;61|75	Hom;A>G	2887;0|109
N	N	-	1	183095477	183095477	G	A	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2296293	0.531749	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;G>A	650;39|32	Hom;G>A	1463;1|55
N	N	-	1	183096634	183096634	G	A	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs1413390	0.531749	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;G>A	200;3|8	Hom;G>A	411;0|13
N	N	-	1	183096668	183096668	C	T	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs1413389	0.531749	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;C>T	61;1|3	Hom;C>T	112;0|4
N	N	-	1	183097605	183097608	TAAA	T	indel	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs398049834	0.498203	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;-AAA	128;1|4	Hom;-AAA	98;0|3
N	N	-	1	183097609	183097609	A	T	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs200840404	0.498203	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>T	137;1|4	Hom;A>T	107;0|3
N	N	-	1	183097956	183097956	G	GTTA	indel	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs113559578	0.53155	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;+TTA	1232;32|33	Hom;+TTA	3199;0|74
N	N	-	1	183098001	183098001	A	G	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs10797851	0.53155	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>G	202;16|10	Hom;A>G	751;0|25
N	N	-	1	183099701	183099701	G	A	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2296300	0.531749	0.5035	0.5760	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;G>A	754;27|37	Hom;G>A	1848;1|70
N	N	-	1	183099821	183099821	G	A	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs6691755	0.531749	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;G>A	52;7|3	Hom;G>A	418;1|14
N	N	-	1	183100555	183100555	T	C	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2333620	0.53095	0.5033	0.5690	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;T>C	918;62|28	Hom;T>C	2127;1|52
N	N	-	1	183100562	183100562	G	GT	indel	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs55857017	0	0	0.1721	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;+T	414;51|16	Hom;+T	2032;1|47
N	N	-	1	183100596	183100596	A	G	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs2333619	0.530751	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>G	446;25|14	Hom;A>G	1097;0|25
N	N	-	1	183100598	183100598	T	G	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs4047797	0.525759	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;T>G	430;25|13	Hom;T>G	1097;0|22
N	N	-	1	183101444	183101444	A	C	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs12071514	0.546925	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;A>C	389;1|10	Hom;A>C	287;0|7
N	N	-	1	183101686	183101686	G	A	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs12095664	0.531749	0.5032	0.5725	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;G>A	1109;39|51	Hom;G>A	2059;1|80
N	N	-	1	183104340	183104341	AT	A	indel	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs35182436	0.577077	0	0.6117	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;-T	219;10|13	Hom;-T	349;1|17
N	N	-	1	183105534	183105534	T	C	snp	synonymous SNV	T4128C	R1376R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs20560	0.560503	0.5399	0.5808	1	0	0	exonic	exonic	exonic	LAMC1	LAMC1	ENSG00000135862	synonymous SNV	synonymous SNV	unknown	LAMC1:NM_002293:exon25:c.T4128C:p.R1376R,	LAMC1:uc001gpy.4:exon25:c.T4128C:p.R1376R,	UNKNOWN	Het;T>C	770;19|33	Hom;T>C	1698;0|63
N	N	-	1	183106739	183106739	G	A	snp	intronic	 	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs10797854	0.520168	0	0	1	0	0	intronic	intronic	intronic	LAMC1	LAMC1	ENSG00000135862	Na	Na	Na	Na	Na	Na	Het;G>A	361;23|18	Hom;G>A	858;1|34
N	N	-	1	183112041	183112041	G	C	snp	UTR3	*116G>C	 	 	 	LAMC1	Lamc1	ENSG00000135862	laminin subunit gamma 1	chr1:182992595-183114727	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]	ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse	Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.	Post-translational protein phosphorylation	GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LAMC1	https://www.uniprot.org/uniprot/P11047		https://www.ncbi.nlm.nih.gov/omim/?term=150290	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1	rs3359	0.576278	0	0	1	0	0	UTR3	UTR3	UTR3	LAMC1(NM_002293:c.*116G>C)	LAMC1(uc001gpy.4:c.*116G>C)	ENSG00000135862(ENST00000258341:c.*116G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	201;3|7	Hom;G>C	255;0|7
N	N	-	1	183155228	183155228	C	A	snp	UTR5	-260C>A	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs2276544	0.160343	0	0	1	0	0	UTR5	UTR5	upstream	LAMC2(NM_005562:c.-260C>A,NM_018891:c.-260C>A)	LAMC2(uc001gpz.4:c.-260C>A,uc010poa.2:c.-37179C>A,uc001gqa.2:c.-260C>A)	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;C>A	584;9|27	Hom;C>A	1718;0|61
N	N	-	1	183155399	183155399	A	G	snp	UTR5	-89A>G	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs2276542	0.209065	0	0	1	0	0	UTR5	UTR5	UTR5	LAMC2(NM_005562:c.-89A>G,NM_018891:c.-89A>G)	LAMC2(uc001gpz.4:c.-89A>G,uc010poa.2:c.-37008A>G,uc001gqa.2:c.-89A>G)	ENSG00000058085(ENST00000493293:c.-89A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	829;53|37	Hom;A>G	2295;0|79
N	N	-	1	183184524	183184524	C	T	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs2274981	0.313898	0	0	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;C>T	171;25|10	Hom;C>T	485;0|17
N	N	-	1	183184616	183184616	C	T	snp	synonymous SNV	C297T	S99S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs2274980	0.313698	0.2461	0.2460	1	0	0	exonic	exonic	exonic	LAMC2	LAMC2	ENSG00000058085	synonymous SNV	synonymous SNV	unknown	LAMC2:NM_005562:exon3:c.C297T:p.S99S,LAMC2:NM_018891:exon3:c.C297T:p.S99S,	LAMC2:uc001gpz.4:exon3:c.C297T:p.S99S,LAMC2:uc001gqa.2:exon3:c.C297T:p.S99S,	UNKNOWN	Het;C>T	1135;94|57	Hom;C>T	3054;0|113
N	N	-	1	183184848	183184848	T	G	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs875794	0.357029	0	0	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;T>G	222;5|8	Hom;T>G	385;0|11
N	N	-	1	183185784	183185784	A	G	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs875792	0.172524	0	0	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;A>G	49;1|3	Hom;A>G	114;0|5
N	N	-	1	183187494	183187494	T	C	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs10911285	0.313898	0.2452	0.2481	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;T>C	205;14|10	Hom;T>C	602;0|21
N	N	-	1	183187603	183187603	C	T	snp	synonymous SNV	C483T	V161V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs1129723	0.313898	0.2461	0.2566	1	0	0	exonic	exonic	exonic	LAMC2	LAMC2	ENSG00000058085	synonymous SNV	synonymous SNV	unknown	LAMC2:NM_005562:exon4:c.C483T:p.V161V,LAMC2:NM_018891:exon4:c.C483T:p.V161V,	LAMC2:uc001gpz.4:exon4:c.C483T:p.V161V,LAMC2:uc001gqa.2:exon4:c.C483T:p.V161V,	UNKNOWN	Het;C>T	558;48|31	Hom;C>T	2549;0|100
N	N	-	1	183191144	183191144	C	T	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs2296307	0.315695	0	0	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;C>T	339;11|14	Hom;C>T	833;0|30
N	N	-	1	183192304	183192304	T	G	snp	synonymous SNV	T798G	G266G	aliphatic,neutral	aliphatic,neutral	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs1047980	0.355032	0.2871	0.2589	1	0	0	exonic	exonic	exonic	LAMC2	LAMC2	ENSG00000058085	synonymous SNV	synonymous SNV	unknown	LAMC2:NM_005562:exon7:c.T798G:p.G266G,LAMC2:NM_018891:exon7:c.T798G:p.G266G,	LAMC2:uc001gpz.4:exon7:c.T798G:p.G266G,LAMC2:uc001gqa.2:exon7:c.T798G:p.G266G,	UNKNOWN	Het;T>G	386;19|17	Hom;T>G	1152;0|39
N	N	-	1	183194619	183194619	A	G	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs2021956	0.313898	0	0	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;A>G	79;3|3	Hom;A>G	181;0|5
N	N	-	1	183206573	183206573	G	A	snp	synonymous SNV	G1788A	Q596Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs1047981	0.352436	0.2864	0.2579	1	0	0	exonic	exonic	exonic	LAMC2	LAMC2	ENSG00000058085	synonymous SNV	synonymous SNV	unknown	LAMC2:NM_005562:exon18:c.G2688A:p.Q896Q,LAMC2:NM_018891:exon18:c.G2688A:p.Q896Q,	LAMC2:uc010poa.2:exon18:c.G1788A:p.Q596Q,LAMC2:uc001gpz.4:exon18:c.G2688A:p.Q896Q,LAMC2:uc001gqa.2:exon18:c.G2688A:p.Q896Q,	UNKNOWN	Het;G>A	1718;82|83	Hom;G>A	3290;0|118
N	N	-	1	183207603	183207603	T	C	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs1925043	0.358826	0.2938	0.2605	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;T>C	393;26|19	Hom;T>C	1100;1|40
N	N	-	1	183209086	183209086	C	A	snp	intronic	 	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs2477436	0.345647	0	0	1	0	0	intronic	intronic	intronic	LAMC2	LAMC2	ENSG00000058085	Na	Na	Na	Na	Na	Na	Het;C>A	82;7|4	Hom;C>A	248;0|9
N	N	-	1	183212548	183212548	T	G	snp	UTR3	*13T>G	 	 	 	LAMC2	Lamc2	ENSG00000058085	laminin subunit gamma 2	chr1:183155373-183214035	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]	Lupus Erythematosus, Systemic; Coronary Disease; maculopathy	Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0048731;system development;IEA|GO:0070831;basement membrane assembly;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005607;laminin-2 complex;IEA|GO:0005615;extracellular space;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAMC2	https://www.uniprot.org/uniprot/Q13753	https://hpo.jax.org/app/browse/search?q=LAMC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150292	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC2&submit=Quick%0D%1029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC2	rs3768593	0.310903	0.2296	0.2372	1	0	0	UTR3	UTR3	UTR3	LAMC2(NM_005562:c.*13T>G)	LAMC2(uc001gqa.2:c.*13T>G)	ENSG00000058085(ENST00000264144:c.*13T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	1358;41|61	Hom;T>G	2118;1|79
N	N	-	1	183222013	183222013	G	A	snp	intronic	 	 	 	 	NMNAT2	Nmnat2	ENSG00000157064	nicotinamide nucleotide adenylyltransferase 2	chr1:183217372-183387737	This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Heart Failure; Tobacco Use Disorder; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus	Mice homozygous for a gene trap or transposon inserted allele exhibit perinatal lethality, distended bladders, atelectasis and loss of axon integrity.	Nicotinate metabolism	GO:0009058;biosynthetic process;IEA|GO:0009435;NAD biosynthetic process;IC|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019674;NAD metabolic process;TAS|GO:0034628;'de novo' NAD biosynthetic process from aspartate;IBA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IEA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0000309;nicotinamide-nucleotide adenylyltransferase activity;TAS|GO:0003824;catalytic activity;IEA|GO:0004515;nicotinate-nucleotide adenylyltransferase activity;EXP|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NMNAT2			https://www.ncbi.nlm.nih.gov/omim/?term=608701	http://www.informatics.jax.org/searchtool/Search.do?query=NMNAT2&submit=Quick%0D%10050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NMNAT2	rs503243	0.34365	0	0	1	0	0	intronic	intronic	intronic	NMNAT2	NMNAT2	ENSG00000157064	Na	Na	Na	Na	Na	Na	Het;G>A	131;3|5	Hom;G>A	113;0|4
N	N	-	1	183908222	183908222	C	T	snp	intronic	 	 	 	 	COLGALT2	Colgalt2	ENSG00000198756	collagen beta(1-O)galactosyltransferase 2	chr1:183898796-184006863		Attention deficit hyperactivity disorder and conduct disorder; Body Height; Parkinson Disease; Tobacco Use Disorder; height; Parkinson's disease ; Height	 	Collagen biosynthesis and modifying enzymes		GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/COLGALT2			https://www.ncbi.nlm.nih.gov/omim/?term=617533	http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT2&submit=Quick%0D%16993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT2	rs3010040	0.174321	0.1562	0.2002	1	0	0	intronic	intronic	intronic	COLGALT2	COLGALT2	ENSG00000198756	Na	Na	Na	Na	Na	Na	Het;C>T	571;26|26	Hom;C>T	1346;0|48
N	N	-	1	183909717	183909717	G	A	snp	synonymous SNV	C1242T	P414P	hydrophobic,neutral	hydrophobic,neutral	COLGALT2	Colgalt2	ENSG00000198756	collagen beta(1-O)galactosyltransferase 2	chr1:183898796-184006863		Attention deficit hyperactivity disorder and conduct disorder; Body Height; Parkinson Disease; Tobacco Use Disorder; height; Parkinson's disease ; Height	 	Collagen biosynthesis and modifying enzymes		GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/COLGALT2			https://www.ncbi.nlm.nih.gov/omim/?term=617533	http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT2&submit=Quick%0D%16993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT2	rs2296713	0.172324	0.1576	0.1984	1	0	0	exonic	exonic	exonic	COLGALT2	COLGALT2	ENSG00000198756	synonymous SNV	synonymous SNV	unknown	COLGALT2:NM_001303421:exon11:c.C1242T:p.P414P,COLGALT2:NM_015101:exon11:c.C1602T:p.P534P,COLGALT2:NM_001303420:exon11:c.C1602T:p.P534P,	COLGALT2:uc001gqs.3:exon11:c.C1242T:p.P414P,COLGALT2:uc001gqr.3:exon11:c.C1602T:p.P534P,COLGALT2:uc001gqp.3:exon3:c.C426T:p.P142P,COLGALT2:uc010poj.1:exon11:c.C1602T:p.P534P,COLGALT2:uc001gqq.3:exon6:c.C813T:p.P271P,	UNKNOWN	Het;G>A	1172;52|54	Hom;G>A	2240;0|82
N	N	-	1	183909934	183909934	G	A	snp	intronic	 	 	 	 	COLGALT2	Colgalt2	ENSG00000198756	collagen beta(1-O)galactosyltransferase 2	chr1:183898796-184006863		Attention deficit hyperactivity disorder and conduct disorder; Body Height; Parkinson Disease; Tobacco Use Disorder; height; Parkinson's disease ; Height	 	Collagen biosynthesis and modifying enzymes		GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/COLGALT2			https://www.ncbi.nlm.nih.gov/omim/?term=617533	http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT2&submit=Quick%0D%16993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT2	rs1887278	0.172324	0.1572	0.1984	1	0	0	intronic	intronic	intronic	COLGALT2	COLGALT2	ENSG00000198756	Na	Na	Na	Na	Na	Na	Het;G>A	718;23|34	Hom;G>A	1768;0|62
N	N	-	1	186022032	186022032	T	G	snp	intronic	 	 	 	 	HMCN1	Hmcn1	ENSG00000143341	hemicentin 1	chr1:185703683-186160085	This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]	atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation	 		GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN1	https://www.uniprot.org/uniprot/Q96RW7		https://www.ncbi.nlm.nih.gov/omim/?term=608548	http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1	rs10911808	0.67472	0.6373	0	1	0	0	intronic	intronic	intronic	HMCN1	HMCN1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;T>G	466;18|21	Hom;T>G	1453;0|48
N	N	-	1	186025005	186025005	G	A	snp	intronic	 	 	 	 	HMCN1	Hmcn1	ENSG00000143341	hemicentin 1	chr1:185703683-186160085	This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]	atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation	 		GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN1	https://www.uniprot.org/uniprot/Q96RW7		https://www.ncbi.nlm.nih.gov/omim/?term=608548	http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1	rs7520459	0.618011	0	0	1	0	0	intronic	intronic	intronic	HMCN1	HMCN1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;G>A	42;2|3	Hom;G>A	70;0|3
N	N	-	1	186026474	186026474	T	C	snp	nonsynonymous SNV	T7253C	I2418T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	HMCN1	Hmcn1	ENSG00000143341	hemicentin 1	chr1:185703683-186160085	This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]	atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation	 		GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN1	https://www.uniprot.org/uniprot/Q96RW7		https://www.ncbi.nlm.nih.gov/omim/?term=608548	http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1	rs12129650	0.529952	0.5254	0.5389	0.62	8	13	exonic	exonic	exonic	HMCN1	HMCN1	ENSG00000143341	nonsynonymous SNV	nonsynonymous SNV	unknown	HMCN1:NM_031935:exon46:c.T7253C:p.I2418T,	HMCN1:uc001grq.1:exon46:c.T7253C:p.I2418T,	UNKNOWN	Het;T>C	1361;79|66	Hom;T>C	4557;0|162
N	N	-	1	186030902	186030902	G	T	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs10737266	0.629992	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;G>T	132;14|8	Hom;G>T	674;0|24
N	N	-	1	186031041	186031041	C	T	snp	synonymous SNV	C7371T	C2457C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	HMCN1	Hmcn1	ENSG00000143341	hemicentin 1	chr1:185703683-186160085	This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]	atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation	 		GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN1	https://www.uniprot.org/uniprot/Q96RW7		https://www.ncbi.nlm.nih.gov/omim/?term=608548	http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1	rs7522627	0.654353	0.6284	0.5980	1	0	0	exonic	exonic	exonic	HMCN1	HMCN1	ENSG00000143341	synonymous SNV	synonymous SNV	unknown	HMCN1:NM_031935:exon47:c.C7371T:p.C2457C,	HMCN1:uc001grq.1:exon47:c.C7371T:p.C2457C,	UNKNOWN	Het;C>T	757;45|42	Hom;C>T	2205;0|88
N	N	-	1	186039006	186039006	C	T	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs761905	0.651358	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;C>T	497;18|23	Hom;C>T	1247;0|43
N	N	-	1	186050417	186050417	A	G	snp	nonsynonymous SNV	A8678G	E2893G	polar,hydrophilic,charged(-)	aliphatic,neutral	HMCN1	Hmcn1	ENSG00000143341	hemicentin 1	chr1:185703683-186160085	This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]	atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation	 		GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA	GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN1	https://www.uniprot.org/uniprot/Q96RW7		https://www.ncbi.nlm.nih.gov/omim/?term=608548	http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1	rs10798035	0.582668	0.5550	0.5453	0.77	10	13	exonic	exonic	exonic	HMCN1	HMCN1	ENSG00000143341	nonsynonymous SNV	nonsynonymous SNV	unknown	HMCN1:NM_031935:exon56:c.A8678G:p.E2893G,	HMCN1:uc001grq.1:exon56:c.A8678G:p.E2893G,	UNKNOWN	Het;A>G	408;51|25	Hom;A>G	2055;0|76
N	N	-	1	186055371	186055371	A	G	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs6425017	0.661342	0.6281	0.5783	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;A>G	960;55|44	Hom;A>G	2669;0|92
N	N	-	1	186057181	186057181	T	C	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs10911816	0.686502	0.6391	0.5898	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;T>C	1144;52|55	Hom;T>C	3555;0|122
N	N	-	1	186077463	186077463	A	G	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs1555495	0.633187	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;A>G	41;3|2	Hom;A>G	185;0|5
N	N	-	1	186081918	186081918	C	T	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs7555520	0.686102	0.6386	0.5854	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;C>T	662;29|32	Hom;C>T	1960;0|71
N	N	-	1	186086578	186086578	G	A	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs10157742	0.675519	0.6326	0.5757	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;G>A	549;43|28	Hom;G>A	1905;0|70
N	N	-	1	186089072	186089072	G	A	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs2891230	0.377396	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;G>A	600;30|27	Hom;G>A	1621;0|56
N	N	-	1	186089112	186089112	T	C	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs2383434	0.472045	0.3749	0.4068	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;T>C	652;26|34	Hom;T>C	1676;0|64
N	N	-	1	186092076	186092076	A	C	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs2057388	0.599441	0.5091	0.4716	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;A>C	804;31|35	Hom;A>C	2101;1|73
N	N	-	1	186092540	186092540	A	G	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs6698064	0.55631	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;A>G	75;4|3	Hom;A>G	221;0|6
N	N	-	1	186140742	186140742	C	CTA	indel	ncRNA_intronic	 	 	 	 	MIR548F1																		rs34112316	0.329473	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;+TA	288;10|10	Hom;+TA	638;0|15
N	N	-	1	186141301	186141301	G	A	snp	ncRNA_intronic	 	 	 	 	MIR548F1																		rs4651302	0.655551	0.5899	0.5409	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548F1	MIR548F1	ENSG00000143341	Na	Na	Na	Na	Na	Na	Het;G>A	811;54|41	Hom;G>A	2460;0|93
N	N	-	1	186344267	186344267	T	A	snp	nonsynonymous SNV	A122T	E41V	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	TPR	Tpr	ENSG00000047410	translocated promoter region, nuclear basket protein	chr1:186280784-186344825	This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]	Differentiated thyroid carcinoma	 	tRNA processing in the nucleus	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0000189;MAPK import into nucleus;IMP|GO:0006404;RNA import into nucleus;IDA|GO:0006405;RNA export from nucleus;IMP|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0008150;biological_process;ND|GO:0010827;regulation of glucose transport;TAS|GO:0010965;regulation of mitotic sister chromatid separation;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0031453;positive regulation of heterochromatin assembly;IMP|GO:0031990;mRNA export from nucleus in response to heat stress;IDA|GO:0034605;cellular response to heat;IDA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0042307;positive regulation of protein import into nucleus;IMP|GO:0045947;negative regulation of translational initiation;IMP|GO:0046827;positive regulation of protein export from nucleus;ISS|GO:0046832;negative regulation of RNA export from nucleus;IDA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0070849;response to epidermal growth factor;IDA|GO:0075733;intracellular transport of virus;TAS|GO:0090267;positive regulation of mitotic cell cycle spindle assembly checkpoint;IMP|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1901673;regulation of mitotic spindle assembly;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0044615;nuclear pore nuclear basket;IDA|GO:0072686;mitotic spindle;IDA	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA|GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;IDA|GO:0031072;heat shock protein binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0051019;mitogen-activated protein kinase binding;IDA|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TPR	https://www.uniprot.org/uniprot/P12270		https://www.ncbi.nlm.nih.gov/omim/?term=189940	http://www.informatics.jax.org/searchtool/Search.do?query=TPR&submit=Quick%0D%868ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPR	rs551633519	0.000199681	0	0.0005	0.25	2	8	ncRNA_intronic	exonic	exonic	MIR548F1	TPR	ENSG00000047410	Na	nonsynonymous SNV	unknown	Na	TPR:uc010pop.2:exon2:c.A122T:p.E41V,	UNKNOWN	Het;T>A	80;4|5	Hom;T>A	257;1|12
N	N	-	1	18650106	18650106	G	T	snp	intronic	 	 	 	 	IGSF21	Igsf21	ENSG00000117154	immunoglobin superfamily member 21	chr1:18434240-18704977	This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]	Celiac Disease|; Tobacco Use Disorder; Cholesterol; Body Height	Mice homozygous for a knock-out allele exhibit abnormal differentiation of inhibitory synapses with decreased mIPSC frequency and prepulse inhibition.			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGSF21	https://www.uniprot.org/uniprot/Q96ID5			http://www.informatics.jax.org/searchtool/Search.do?query=IGSF21&submit=Quick%0D%4846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF21	rs223224	0.028155	0	0	1	0	0	intronic	intronic	intronic	IGSF21	IGSF21	ENSG00000117154	Na	Na	Na	Na	Na	Na	Het;G>T	102;6|7	Hom;G>T	71;0|4
N	N	-	1	186750633	186750633	A	T	snp	intergenic	 	 	 	 	PACERR																		rs10737269	0.832468	0	0	1	0	0	intergenic	intergenic	intergenic	PACERR(dist=100055),PLA2G4A(dist=47399)	PTGS2(dist=101074),PLA2G4A(dist=47399)	ENSG00000273129(dist=100055),ENSG00000116711(dist=47452)	Na	Na	Na	Na	Na	Na	Het;A>T	159;10|10	Hom;A>T	669;0|28
N	N	-	1	186908385	186908385	C	T	snp	intronic	 	 	 	 	PLA2G4A	Pla2g4a	ENSG00000116711	phospholipase A2 group IVA	chr1:186798085-186958113	This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Lipoproteins; depressive disorder, major; bipolar disorder; schizophrenia; null; Body Mass Index; depression; bipolar disorder; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; patent ductus arteriosus; knee osteoarthritis; Tobacco Use Disorder; Inflammation|Premature Birth; Osteoarthritis, Knee; Premature Birth; HIV; diabetes, type 2; lipids; glucose; asthma; Type 2 Diabetes| edema | rosiglitazone; Body Composition	Mice homozygouse for disruptions in this gene display reduced allergic and autoimmune reactions.  They also display an increased incidence of insulin and reduced female reproductive performance.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006663;platelet activating factor biosynthetic process;NAS|GO:0006690;icosanoid metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;TAS|GO:0035965;cardiolipin acyl-chain remodeling;TAS|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0046456;icosanoid biosynthetic process;IEA|GO:0050482;arachidonic acid secretion;IEA|GO:0071236;cellular response to antibiotic;IEA	GO:0005737;cytoplasm;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA	GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IDA|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4A	https://www.uniprot.org/uniprot/P47712		https://www.ncbi.nlm.nih.gov/omim/?term=600522	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4A&submit=Quick%0D%4775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4A	rs2307200	0.365815	0.3145	0.2410	1	0	0	intronic	intronic	intronic	PLA2G4A	PLA2G4A	ENSG00000116711	Na	Na	Na	Na	Na	Na	Het;C>T	592;28|28	Hom;C>T	2353;0|85
N	N	-	1	186925169	186925169	G	T	snp	intronic	 	 	 	 	PLA2G4A	Pla2g4a	ENSG00000116711	phospholipase A2 group IVA	chr1:186798085-186958113	This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]	Lipoproteins; depressive disorder, major; bipolar disorder; schizophrenia; null; Body Mass Index; depression; bipolar disorder; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; patent ductus arteriosus; knee osteoarthritis; Tobacco Use Disorder; Inflammation|Premature Birth; Osteoarthritis, Knee; Premature Birth; HIV; diabetes, type 2; lipids; glucose; asthma; Type 2 Diabetes| edema | rosiglitazone; Body Composition	Mice homozygouse for disruptions in this gene display reduced allergic and autoimmune reactions.  They also display an increased incidence of insulin and reduced female reproductive performance.	COPI-independent Golgi-to-ER retrograde traffic	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006663;platelet activating factor biosynthetic process;NAS|GO:0006690;icosanoid metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;TAS|GO:0035965;cardiolipin acyl-chain remodeling;TAS|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0046456;icosanoid biosynthetic process;IEA|GO:0050482;arachidonic acid secretion;IEA|GO:0071236;cellular response to antibiotic;IEA	GO:0005737;cytoplasm;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA	GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IDA|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4A	https://www.uniprot.org/uniprot/P47712		https://www.ncbi.nlm.nih.gov/omim/?term=600522	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4A&submit=Quick%0D%4775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4A	rs35183959	0.131589	0	0	1	0	0	intronic	intronic	intronic	PLA2G4A	PLA2G4A	ENSG00000116711	Na	Na	Na	Na	Na	Na	Het;G>T	237;15|10	Hom;G>T	1233;0|26
N	N	-	1	18704862	18704862	A	G	snp	UTR3	*42A>G	 	 	 	IGSF21	Igsf21	ENSG00000117154	immunoglobin superfamily member 21	chr1:18434240-18704977	This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]	Celiac Disease|; Tobacco Use Disorder; Cholesterol; Body Height	Mice homozygous for a knock-out allele exhibit abnormal differentiation of inhibitory synapses with decreased mIPSC frequency and prepulse inhibition.			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGSF21	https://www.uniprot.org/uniprot/Q96ID5			http://www.informatics.jax.org/searchtool/Search.do?query=IGSF21&submit=Quick%0D%4846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF21	rs1043459	0.604233	0.5181	0.5053	1	0	0	UTR3	UTR3	UTR3	IGSF21(NM_032880:c.*42A>G)	IGSF21(uc001bau.2:c.*42A>G,uc001bav.2:c.*42A>G)	ENSG00000117154(ENST00000251296:c.*42A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1154;39|48	Hom;A>G	2708;0|74
N	N	-	1	187329086	187329086	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01036																		rs2489646	0.584265	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01036	PLA2G4A(dist=370973),C1orf99(dist=281272)	ENSG00000236030	Na	Na	Na	Na	Na	Na	Het;A>C	1548;72|60	Hom;A>C	4191;1|138
N	N	-	1	187329124	187329124	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01036																		rs1496087	0.584065	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01036	PLA2G4A(dist=371011),C1orf99(dist=281234)	ENSG00000236030	Na	Na	Na	Na	Na	Na	Het;C>T	1435;88|68	Hom;C>T	4943;2|144
N	N	-	1	187603925	187603925	T	A	snp	intergenic	 	 	 	 	FDPSP1																		rs6688689	0.592452	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01036(dist=274549),NONE(dist=NONE)	PLA2G4A(dist=645812),C1orf99(dist=6433)	ENSG00000225462(dist=70662),ENSG00000230426(dist=6433)	Na	Na	Na	Na	Na	Na	Het;T>A	519;26|28	Hom;T>A	1193;0|46
N	N	-	1	187696113	187696113	A	AAATC	indel	intergenic	 	 	 	 	AL645474.1																		rs144318551	0.872005	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01036(dist=366737),NONE(dist=NONE)	C1orf99(dist=83125),NONE(dist=NONE)	ENSG00000223847(dist=12247),ENSG00000150732(dist=340316)	Na	Na	Na	Na	Na	Na	Het;+AATC	155;6|5	Hom;+AATC	908;0|21
N	N	-	1	188146420	188146434	GACACACACACACAC	G	indel	intergenic	 	 	 	 	RN7SKP156																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01036(dist=817044),BRINP3(dist=1920363)	C1orf99(dist=533432),FAM5C(dist=1920363)	ENSG00000222240(dist=21109),ENSG00000261182(dist=41097)	Na	Na	Na	Na	Na	Na	Het;-ACACACACACACAC	335;7|11	Hom;-ACACACACACACAC	764;1|20
N	N	-	1	188246507	188246507	T	C	snp	intergenic	 	 	 	 	AL592447.1																		rs3010662	0.65595	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01036(dist=917131),BRINP3(dist=1820290)	C1orf99(dist=633519),FAM5C(dist=1820290)	ENSG00000224278(dist=34698),ENSG00000225006(dist=231162)	Na	Na	Na	Na	Na	Na	Het;T>C	146;10|7	Hom;T>C	580;0|21
N	N	-	1	188396384	188396384	T	C	snp	intergenic	 	 	 	 	AL592447.1																		rs10753051	0.822883	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01036(dist=1067008),BRINP3(dist=1670413)	C1orf99(dist=783396),FAM5C(dist=1670413)	ENSG00000224278(dist=184575),ENSG00000225006(dist=81285)	Na	Na	Na	Na	Na	Na	Het;T>C	828;56|43	Hom;T>C	1729;0|63
N	N	-	1	190450227	190450227	A	T	snp	ncRNA_exonic	 	 	 	 	LINC01351																		rs1182976	0.574681	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC01351	CR936711	ENSG00000241505	Na	Na	Na	Na	Na	Na	Het;A>T	868;37|42	Hom;A>T	3380;0|126
N	N	-	1	190643601	190643601	T	C	snp	ncRNA_intronic	 	 	 	 	LOC440704																		rs55770408	0.250799	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC440704	LOC440704	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;T>C	690;26|33	Hom;T>C	812;0|29
N	N	-	1	190734051	190734051	G	A	snp	ncRNA_intronic	 	 	 	 	LOC440704																		rs567695	0.54373	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC440704	LOC440704	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;G>A	674;38|32	Hom;G>A	1460;0|51
N	N	-	1	190760498	190760498	T	C	snp	ncRNA_intronic	 	 	 	 	LOC440704																		rs500681	0.555112	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC440704	LOC440704	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;T>C	76;2|3	Hom;T>C	239;0|7
N	N	-	1	190760788	190760788	C	T	snp	ncRNA_intronic	 	 	 	 	LOC440704																		rs16832771	0.165735	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC440704	LOC440704	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;C>T	113;10|6	Hom;C>T	475;0|17
N	N	-	1	190769033	190769033	T	C	snp	ncRNA_exonic	 	 	 	 	LOC440704																		rs12119860	0.142372	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440704	LOC440704(uc021pgm.2:c.*8T>C)	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;T>C	423;45|23	Hom;T>C	1381;0|46
N	N	-	1	190769108	190769112	GGTGT	G	indel	ncRNA_exonic	 	 	 	 	LOC440704																		rs6143537	0.490415	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440704	LOC440704(uc021pgm.2:c.*83_*87delinsG)	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;-GTGT	555;21|18	Hom;-GTGT	1538;0|39
N	N	-	1	190769572	190769572	A	C	snp	ncRNA_exonic	 	 	 	 	LOC440704																		rs635318	0.556709	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440704	LOC440704(uc021pgm.2:c.*547A>C)	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;A>C	700;28|29	Hom;A>C	1965;1|64
N	N	-	1	190770304	190770304	G	T	snp	ncRNA_exonic	 	 	 	 	LOC440704																		rs491821	0.555911	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440704	LOC440704(uc021pgm.2:c.*1279G>T)	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;G>T	101;24|7	Hom;G>T	1131;0|40
N	N	-	1	190770403	190770403	C	T	snp	ncRNA_exonic	 	 	 	 	LOC440704																		rs649580	0.499601	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC440704	LOC440704(uc021pgm.2:c.*1378C>T)	ENSG00000231175	Na	Na	Na	Na	Na	Na	Het;C>T	1168;97|63	Hom;C>T	4173;0|160
N	N	-	1	190820913	190820914	TA	T	indel	intergenic	 	 	 	 	LINC01720																		rs113189607	0.30012	0	0	1	0	0	intergenic	intergenic	intergenic	LOC440704(dist=50125),RGS18(dist=1306678)	LOC440704(dist=50125),RGS18(dist=1306678)	ENSG00000231175(dist=50125),ENSG00000228020(dist=294241)	Na	Na	Na	Na	Na	Na	Het;-A	69;1|3	Hom;-A	233;0|7
N	N	-	1	19181393	19181393	T	C	snp	nonsynonymous SNV	A571G	I191V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TAS1R2	Tas1r2	ENSG00000179002	taste 1 receptor member 2	chr1:19166093-19186176		Parkinson's disease ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Obesity|Overweight; Dental Caries; Bulimia	Homozygous mutant mice show diminished behavioral and nervous responses to sweet tastants. Response to umami tastants is unimpaired.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0001582;detection of chemical stimulus involved in sensory perception of sweet taste;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IC|GO:0032467;positive regulation of cytokinesis;IMP|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA|GO:0050916;sensory perception of sweet taste;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC|GO:0043235;receptor complex;IDA|GO:1903767;sweet taste receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008527;taste receptor activity;IDA|GO:0033041;sweet taste receptor activity;IDA|GO:0046982;protein heterodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TAS1R2			https://www.ncbi.nlm.nih.gov/omim/?term=606226	http://www.informatics.jax.org/searchtool/Search.do?query=TAS1R2&submit=Quick%0D%14271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS1R2	rs35874116	0.266973	0.3225	0.3006	0.23	3	13	exonic	exonic	exonic	TAS1R2	TAS1R2	ENSG00000179002	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	TAS1R2:NM_152232:exon3:c.A571G:p.I191V,	TAS1R2:uc001bba.1:exon3:c.A571G:p.I191V,	ENSG00000179002:ENST00000375371:exon3:c.A571G:p.I191V,	Het;T>C	1881;109|89	Hom;T>C	4767;0|175
N	N	-	1	19184077	19184077	A	G	snp	synonymous SNV	T231C	F77F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	TAS1R2	Tas1r2	ENSG00000179002	taste 1 receptor member 2	chr1:19166093-19186176		Parkinson's disease ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Obesity|Overweight; Dental Caries; Bulimia	Homozygous mutant mice show diminished behavioral and nervous responses to sweet tastants. Response to umami tastants is unimpaired.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0001582;detection of chemical stimulus involved in sensory perception of sweet taste;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IC|GO:0032467;positive regulation of cytokinesis;IMP|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA|GO:0050916;sensory perception of sweet taste;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC|GO:0043235;receptor complex;IDA|GO:1903767;sweet taste receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008527;taste receptor activity;IDA|GO:0033041;sweet taste receptor activity;IDA|GO:0046982;protein heterodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TAS1R2			https://www.ncbi.nlm.nih.gov/omim/?term=606226	http://www.informatics.jax.org/searchtool/Search.do?query=TAS1R2&submit=Quick%0D%14271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS1R2	rs68081213	0.275759	0.3335	0.3036	1	0	0	exonic	exonic	exonic	TAS1R2	TAS1R2	ENSG00000179002	synonymous SNV	synonymous SNV	synonymous SNV	TAS1R2:NM_152232:exon2:c.T231C:p.F77F,	TAS1R2:uc001bba.1:exon2:c.T231C:p.F77F,	ENSG00000179002:ENST00000375371:exon2:c.T231C:p.F77F,	Het;A>G	1049;67|49	Hom;A>G	2676;0|95
N	N	-	1	19184176	19184176	G	A	snp	intronic	 	 	 	 	TAS1R2	Tas1r2	ENSG00000179002	taste 1 receptor member 2	chr1:19166093-19186176		Parkinson's disease ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Obesity|Overweight; Dental Caries; Bulimia	Homozygous mutant mice show diminished behavioral and nervous responses to sweet tastants. Response to umami tastants is unimpaired.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0001582;detection of chemical stimulus involved in sensory perception of sweet taste;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IC|GO:0032467;positive regulation of cytokinesis;IMP|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA|GO:0050916;sensory perception of sweet taste;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC|GO:0043235;receptor complex;IDA|GO:1903767;sweet taste receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008527;taste receptor activity;IDA|GO:0033041;sweet taste receptor activity;IDA|GO:0046982;protein heterodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TAS1R2			https://www.ncbi.nlm.nih.gov/omim/?term=606226	http://www.informatics.jax.org/searchtool/Search.do?query=TAS1R2&submit=Quick%0D%14271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS1R2	rs72953138	0.188698	0.2527	0.2086	1	0	0	intronic	intronic	intronic	TAS1R2	TAS1R2	ENSG00000179002,ENSG00000255275	Na	Na	Na	Na	Na	Na	Het;G>A	436;40|22	Hom;G>A	1241;0|43
N	N	-	1	19198576	19198576	A	G	snp	UTR3	*763T>C	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs1138267	0.67512	0	0	1	0	0	UTR3	UTR3	UTR3	ALDH4A1(NM_003748:c.*763T>C,NM_001161504:c.*763T>C)	ALDH4A1(uc010ocu.2:c.*763T>C,uc001bbc.3:c.*763T>C,uc021ohl.1:c.*763T>C)	ENSG00000159423(ENST00000538309:c.*763T>C,ENST00000538839:c.*763T>C,ENST00000375341:c.*763T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	968;46|42	Hom;A>G	1673;0|56
N	N	-	1	19198637	19198637	G	A	snp	UTR3	*702C>T	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs3202002	0.474441	0	0	1	0	0	UTR3	UTR3	UTR3	ALDH4A1(NM_003748:c.*702C>T,NM_001161504:c.*702C>T)	ALDH4A1(uc010ocu.2:c.*702C>T,uc001bbc.3:c.*702C>T,uc021ohl.1:c.*702C>T)	ENSG00000159423(ENST00000538309:c.*702C>T,ENST00000538839:c.*702C>T,ENST00000375341:c.*702C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1693;94|84	Hom;G>A	2877;0|109
N	N	-	1	19198681	19198682	GC	G	indel	UTR3	*658_*657delinsC	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs11311839	0.467652	0	0	1	0	0	UTR3	UTR3	UTR3	ALDH4A1(NM_003748:c.*658_*657delinsC,NM_001161504:c.*658_*657delinsC)	ALDH4A1(uc010ocu.2:c.*658_*657delinsC,uc001bbc.3:c.*658_*657delinsC,uc021ohl.1:c.*658_*657delinsC)	ENSG00000159423(ENST00000538309:c.*658_*657delinsC,ENST00000538839:c.*658_*657delinsC,ENST00000375341:c.*658_*657delinsC)	Na	Na	Na	Na	Na	Na	Het;-C	1762;94|73	Hom;-C	3588;0|113
N	N	-	1	19199221	19199221	C	T	snp	UTR3	*118G>A	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs11740	0.471446	0	0	1	0	0	UTR3	UTR3	UTR3	ALDH4A1(NM_003748:c.*118G>A,NM_001161504:c.*118G>A)	ALDH4A1(uc010ocu.2:c.*118G>A,uc001bbc.3:c.*118G>A,uc021ohl.1:c.*118G>A)	ENSG00000159423(ENST00000538309:c.*118G>A,ENST00000538839:c.*118G>A,ENST00000375341:c.*118G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	775;34|32	Hom;C>T	2198;0|76
N	N	-	1	19199473	19199473	T	A	snp	intronic	 	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs28700162	0.471446	0.3682	0.4647	1	0	0	intronic	intronic	intronic	ALDH4A1	ALDH4A1	ENSG00000159423,ENSG00000255275	Na	Na	Na	Na	Na	Na	Het;T>A	547;41|27	Hom;T>A	2238;0|83
N	N	-	1	19200908	19200908	G	C	snp	intronic	 	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs28529092	0.548522	0.4376	0.4943	1	0	0	intronic	intronic	intronic	ALDH4A1	ALDH4A1	ENSG00000159423,ENSG00000255275	Na	Na	Na	Na	Na	Na	Het;G>C	370;13|14	Hom;G>C	784;0|26
N	N	-	1	19201184	19201184	G	C	snp	intronic	 	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs6665917	0.668331	0	0	1	0	0	intronic	intronic	intronic	ALDH4A1	ALDH4A1	ENSG00000159423,ENSG00000255275	Na	Na	Na	Na	Na	Na	Het;G>C	106;6|6	Hom;G>C	552;0|20
N	N	-	1	19201211	19201211	T	TG	indel	intronic	 	 	 	 	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs35163726	0.654553	0	0	1	0	0	intronic	intronic	intronic	ALDH4A1	ALDH4A1	ENSG00000159423,ENSG00000255275	Na	Na	Na	Na	Na	Na	Het;+G	57;3|3	Hom;+G	337;0|10
N	N	-	1	19201956	19201956	A	G	snp	synonymous SNV	T1380C	D460D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs2230708	0.73722	0.7022	0.7298	1	0	0	exonic	exonic	exonic	ALDH4A1	ALDH4A1	ENSG00000159423	synonymous SNV	synonymous SNV	synonymous SNV	ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D,	ALDH4A1:uc001bbc.3:exon13:c.T1380C:p.D460D,ALDH4A1:uc001bbb.3:exon13:c.T1380C:p.D460D,ALDH4A1:uc010ocu.2:exon13:c.T1200C:p.D400D,ALDH4A1:uc021ohl.1:exon12:c.T1227C:p.D409D,	ENSG00000159423:ENST00000375341:exon13:c.T1380C:p.D460D,ENSG00000159423:ENST00000290597:exon13:c.T1380C:p.D460D,ENSG00000159423:ENST00000538309:exon13:c.T1200C:p.D400D,ENSG00000159423:ENST00000538839:exon12:c.T1227C:p.D409D,	Het;A>G	766;66|42	Hom;A>G	2972;0|111
N	N	-	1	19202917	19202917	T	C	snp	synonymous SNV	A1230G	S410S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs7550938	0.660942	0.6230	0.7024	1	0	0	exonic	exonic	exonic	ALDH4A1	ALDH4A1	ENSG00000159423	synonymous SNV	synonymous SNV	synonymous SNV	ALDH4A1:NM_003748:exon12:c.A1230G:p.S410S,ALDH4A1:NM_001161504:exon12:c.A1050G:p.S350S,ALDH4A1:NM_170726:exon12:c.A1230G:p.S410S,	ALDH4A1:uc001bbc.3:exon12:c.A1230G:p.S410S,ALDH4A1:uc001bbb.3:exon12:c.A1230G:p.S410S,ALDH4A1:uc010ocu.2:exon12:c.A1050G:p.S350S,	ENSG00000159423:ENST00000375341:exon12:c.A1230G:p.S410S,ENSG00000159423:ENST00000290597:exon12:c.A1230G:p.S410S,ENSG00000159423:ENST00000538309:exon12:c.A1050G:p.S350S,	Het;T>C	2007;51|54	Hom;T>C	5653;0|126
N	N	-	1	19202926	19202926	T	C	snp	synonymous SNV	A1221G	A407A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs2230706	0.660144	0.6213	0.7061	1	0	0	exonic	exonic	exonic	ALDH4A1	ALDH4A1	ENSG00000159423	synonymous SNV	synonymous SNV	synonymous SNV	ALDH4A1:NM_003748:exon12:c.A1221G:p.A407A,ALDH4A1:NM_001161504:exon12:c.A1041G:p.A347A,ALDH4A1:NM_170726:exon12:c.A1221G:p.A407A,	ALDH4A1:uc001bbc.3:exon12:c.A1221G:p.A407A,ALDH4A1:uc001bbb.3:exon12:c.A1221G:p.A407A,ALDH4A1:uc010ocu.2:exon12:c.A1041G:p.A347A,	ENSG00000159423:ENST00000375341:exon12:c.A1221G:p.A407A,ENSG00000159423:ENST00000290597:exon12:c.A1221G:p.A407A,ENSG00000159423:ENST00000538309:exon12:c.A1041G:p.A347A,	Het;T>C	1885;50|50	Hom;T>C	5712;0|131
N	N	-	1	19203997	19203997	C	G	snp	synonymous SNV	G1050C	A350A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ALDH4A1	Aldh4a1	ENSG00000159423	aldehyde dehydrogenase 4 family member A1	chr1:19197926-19229275	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Hearing Loss; esophageal adenocarcinoma	 	Proline catabolism	GO:0006537;glutamate biosynthetic process;IEA|GO:0006560;proline metabolic process;TAS|GO:0006561;proline biosynthetic process;IEA|GO:0006562;proline catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0010133;proline catabolic process to glutamate;IEA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0046487;glyoxylate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0003842;1-pyrroline-5-carboxylate dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALDH4A1		https://hpo.jax.org/app/browse/search?q=ALDH4A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606811	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH4A1&submit=Quick%0D%10337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH4A1	rs2230705	0.641573	0.7115	0.7072	1	0	0	exonic	exonic	exonic	ALDH4A1	ALDH4A1	ENSG00000159423	synonymous SNV	synonymous SNV	synonymous SNV	ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A,	ALDH4A1:uc001bbc.3:exon10:c.G1050C:p.A350A,ALDH4A1:uc001bbb.3:exon10:c.G1050C:p.A350A,ALDH4A1:uc010ocu.2:exon10:c.G870C:p.A290A,ALDH4A1:uc021ohl.1:exon10:c.G1050C:p.A350A,	ENSG00000159423:ENST00000375341:exon10:c.G1050C:p.A350A,ENSG00000159423:ENST00000290597:exon10:c.G1050C:p.A350A,ENSG00000159423:ENST00000538309:exon10:c.G870C:p.A290A,ENSG00000159423:ENST00000538839:exon10:c.G1050C:p.A350A,	Het;C>G	521;36|28	Hom;C>G	979;0|36
N	N	-	1	192216230	192216230	A	G	snp	ncRNA_exonic	 	 	 	 	AL513175.1																		rs1175148	0.471446	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RGS18(dist=61285),RGS21(dist=69892)	RGS18(dist=61285),RGS21(dist=69892)	ENSG00000226723	Na	Na	Na	Na	Na	Na	Het;A>G	1039;18|48	Hom;A>G	2078;0|77
N	N	-	1	192216486	192216486	T	C	snp	ncRNA_exonic	 	 	 	 	AL513175.1																		rs1175147	0.471446	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RGS18(dist=61541),RGS21(dist=69636)	RGS18(dist=61541),RGS21(dist=69636)	ENSG00000226723	Na	Na	Na	Na	Na	Na	Het;T>C	427;27|23	Hom;T>C	1065;0|41
N	N	-	1	192216818	192216818	G	A	snp	ncRNA_exonic	 	 	 	 	AL513175.2																		rs1175145	0.471446	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RGS18(dist=61873),RGS21(dist=69304)	RGS18(dist=61873),RGS21(dist=69304)	ENSG00000236792	Na	Na	Na	Na	Na	Na	Het;G>A	846;35|37	Hom;G>A	2864;0|106
N	N	-	1	192216848	192216848	C	G	snp	ncRNA_exonic	 	 	 	 	AL513175.2																		rs1175144	0.471446	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RGS18(dist=61903),RGS21(dist=69274)	RGS18(dist=61903),RGS21(dist=69274)	ENSG00000236792	Na	Na	Na	Na	Na	Na	Het;C>G	1178;43|51	Hom;C>G	3436;0|121
N	N	-	1	192289631	192289631	T	C	snp	intronic	 	 	 	 	RGS21	Rgs21	ENSG00000253148	regulator of G protein signaling 21	chr1:192286122-192336415	Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, Nov 2008]	Celiac Disease; Hip	Mice show reduced aversion to bitter taste and reduced preference towards sweeteners, umami taste, and salty taste.	G alpha (i) signalling events	GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA	GO:0005096;GTPase activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RGS21			https://www.ncbi.nlm.nih.gov/omim/?term=612407	http://www.informatics.jax.org/searchtool/Search.do?query=RGS21&submit=Quick%0D%20010ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS21	rs1572729	0.427915	0	0	1	0	0	intronic	intronic	intronic	RGS21	RGS21	ENSG00000253148	Na	Na	Na	Na	Na	Na	Het;T>C	277;41|19	Hom;T>C	1218;2|52
N	N	-	1	192335271	192335271	C	CTAAT	indel	UTR3	*17C>CTAAT	 	 	 	RGS21	Rgs21	ENSG00000253148	regulator of G protein signaling 21	chr1:192286122-192336415	Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, Nov 2008]	Celiac Disease; Hip	Mice show reduced aversion to bitter taste and reduced preference towards sweeteners, umami taste, and salty taste.	G alpha (i) signalling events	GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA	GO:0005096;GTPase activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RGS21			https://www.ncbi.nlm.nih.gov/omim/?term=612407	http://www.informatics.jax.org/searchtool/Search.do?query=RGS21&submit=Quick%0D%20010ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS21	rs397718879	0.458267	0	0.4612	1	0	0	UTR3	UTR3	UTR3	RGS21(NM_001039152:c.*17C>CTAAT)	RGS21(uc001gsh.3:c.*17C>CTAAT)	ENSG00000253148(ENST00000417209:c.*17C>CTAAT)	Na	Na	Na	Na	Na	Na	Het;+TAAT	581;18|17	Hom;+TAAT	1677;0|39
N	N	-	1	192580856	192580859	ATTC	A	indel	intergenic	 	 	 	 	RGS1	Rgs1	ENSG00000090104	regulator of G protein signaling 1	chr1:192544857-192549161	This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Bulimia; Celiac disease; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; diabetes, type 1 ; Celiac Disease|; coeliac disease; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; multiple sclerosis	Homozygous null mice display increased splenic B cell germinal centers, increased chemotactic responses in  B cells and immature dendritic cells, and decreased antibody secreting cell numbers.	G alpha (i) signalling events	GO:0006955;immune response;TAS|GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0061737;leukotriene signaling pathway;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA	GO:0001965;G-protein alpha-subunit binding;IPI|GO:0005096;GTPase activator activity;TAS|GO:0005516;calmodulin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RGS1	https://www.uniprot.org/uniprot/Q08116		https://www.ncbi.nlm.nih.gov/omim/?term=600323	http://www.informatics.jax.org/searchtool/Search.do?query=RGS1&submit=Quick%0D%2088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS1	rs10590696	0.423922	0	0	1	0	0	intergenic	intergenic	intergenic	RGS1(dist=31697),RGS13(dist=24409)	RGS1(dist=31697),RGS13(dist=24409)	ENSG00000090104(dist=31695),ENSG00000127074(dist=24416)	Na	Na	Na	Na	Na	Na	Het;-TTC	527;8|14	Hom;-TTC	964;0|23
N	N	-	1	192581100	192581100	G	A	snp	intergenic	 	 	 	 	RGS1	Rgs1	ENSG00000090104	regulator of G protein signaling 1	chr1:192544857-192549161	This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Bulimia; Celiac disease; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; diabetes, type 1 ; Celiac Disease|; coeliac disease; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; multiple sclerosis	Homozygous null mice display increased splenic B cell germinal centers, increased chemotactic responses in  B cells and immature dendritic cells, and decreased antibody secreting cell numbers.	G alpha (i) signalling events	GO:0006955;immune response;TAS|GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0061737;leukotriene signaling pathway;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA	GO:0001965;G-protein alpha-subunit binding;IPI|GO:0005096;GTPase activator activity;TAS|GO:0005516;calmodulin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RGS1	https://www.uniprot.org/uniprot/Q08116		https://www.ncbi.nlm.nih.gov/omim/?term=600323	http://www.informatics.jax.org/searchtool/Search.do?query=RGS1&submit=Quick%0D%2088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS1	rs7554685	0.423922	0	0	1	0	0	intergenic	intergenic	intergenic	RGS1(dist=31941),RGS13(dist=24168)	RGS1(dist=31941),RGS13(dist=24168)	ENSG00000090104(dist=31939),ENSG00000127074(dist=24175)	Na	Na	Na	Na	Na	Na	Het;G>A	311;10|12	Hom;G>A	862;0|25
N	N	-	1	192581115	192581115	A	G	snp	intergenic	 	 	 	 	RGS1	Rgs1	ENSG00000090104	regulator of G protein signaling 1	chr1:192544857-192549161	This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Bulimia; Celiac disease; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; diabetes, type 1 ; Celiac Disease|; coeliac disease; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; multiple sclerosis	Homozygous null mice display increased splenic B cell germinal centers, increased chemotactic responses in  B cells and immature dendritic cells, and decreased antibody secreting cell numbers.	G alpha (i) signalling events	GO:0006955;immune response;TAS|GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0061737;leukotriene signaling pathway;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA	GO:0001965;G-protein alpha-subunit binding;IPI|GO:0005096;GTPase activator activity;TAS|GO:0005516;calmodulin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RGS1	https://www.uniprot.org/uniprot/Q08116		https://www.ncbi.nlm.nih.gov/omim/?term=600323	http://www.informatics.jax.org/searchtool/Search.do?query=RGS1&submit=Quick%0D%2088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS1	rs7544573	0.424121	0	0	1	0	0	intergenic	intergenic	intergenic	RGS1(dist=31956),RGS13(dist=24153)	RGS1(dist=31956),RGS13(dist=24153)	ENSG00000090104(dist=31954),ENSG00000127074(dist=24160)	Na	Na	Na	Na	Na	Na	Het;A>G	334;9|11	Hom;A>G	631;0|16
N	N	-	1	193051685	193051685	G	A	snp	intronic	 	 	 	 	TROVE2	Trove2	ENSG00000116747	TROVE domain family member 2	chr1:193028552-193060907			Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice.		GO:0002520;immune system development;IEA|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0009411;response to UV;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030529;intracellular ribonucleoprotein complex;TAS	GO:0003723;RNA binding;TAS|GO:0030620;U2 snRNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TROVE2	https://www.uniprot.org/uniprot/P10155		https://www.ncbi.nlm.nih.gov/omim/?term=600063	http://www.informatics.jax.org/searchtool/Search.do?query=TROVE2&submit=Quick%0D%4783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TROVE2	rs2275444	0.59345	0.6685	0.6761	1	0	0	intronic	intronic	intronic	TROVE2	TROVE2	ENSG00000116747	Na	Na	Na	Na	Na	Na	Het;G>A	191;14|10	Hom;G>A	555;0|19
N	N	-	1	193074371	193074371	A	G	snp	intronic	 	 	 	 	GLRX2	Glrx2	ENSG00000023572	glutaredoxin 2	chr1:193065598-193075244	The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006749;glutathione metabolic process;TAS|GO:0006915;apoptotic process;NAS|GO:0007568;aging;IEA|GO:0009266;response to temperature stimulus;NAS|GO:0009966;regulation of signal transduction;NAS|GO:0010033;response to organic substance;IDA|GO:0030154;cell differentiation;NAS|GO:0042262;DNA protection;NAS|GO:0042542;response to hydrogen peroxide;IDA|GO:0045454;cell redox homeostasis;TAS|GO:0051775;response to redox state;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071451;cellular response to superoxide;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003756;protein disulfide isomerase activity;TAS|GO:0008794;arsenate reductase (glutaredoxin) activity;TAS|GO:0009055;electron carrier activity;NAS|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLRX2	https://www.uniprot.org/uniprot/Q9NS18		https://www.ncbi.nlm.nih.gov/omim/?term=606820	http://www.informatics.jax.org/searchtool/Search.do?query=GLRX2&submit=Quick%0D%685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX2	rs10801175	0.681709	0.7689	0.7072	1	0	0	intronic	intronic	intronic	GLRX2	GLRX2	ENSG00000023572	Na	Na	Na	Na	Na	Na	Het;A>G	121;3|6	Hom;A>G	195;0|8
N	N	-	1	193074651	193074651	T	A	snp	nonsynonymous SNV	A118T	R40W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	GLRX2	Glrx2	ENSG00000023572	glutaredoxin 2	chr1:193065598-193075244	The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006749;glutathione metabolic process;TAS|GO:0006915;apoptotic process;NAS|GO:0007568;aging;IEA|GO:0009266;response to temperature stimulus;NAS|GO:0009966;regulation of signal transduction;NAS|GO:0010033;response to organic substance;IDA|GO:0030154;cell differentiation;NAS|GO:0042262;DNA protection;NAS|GO:0042542;response to hydrogen peroxide;IDA|GO:0045454;cell redox homeostasis;TAS|GO:0051775;response to redox state;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071451;cellular response to superoxide;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003756;protein disulfide isomerase activity;TAS|GO:0008794;arsenate reductase (glutaredoxin) activity;TAS|GO:0009055;electron carrier activity;NAS|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLRX2	https://www.uniprot.org/uniprot/Q9NS18		https://www.ncbi.nlm.nih.gov/omim/?term=606820	http://www.informatics.jax.org/searchtool/Search.do?query=GLRX2&submit=Quick%0D%685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX2	rs10921310	0.680711	0.7369	0.7636	0.08	1	12	exonic	exonic	exonic	GLRX2	GLRX2	ENSG00000023572	nonsynonymous SNV	nonsynonymous SNV	unknown	GLRX2:NM_016066:exon1:c.A118T:p.R40W,	GLRX2:uc001gta.2:exon1:c.A118T:p.R40W,	UNKNOWN	Het;T>A	598;18|26	Hom;T>A	722;0|28
N	N	-	1	193884958	193884958	T	C	snp	intergenic	 	 	 	 	RPL23AP22																		rs7542605	0.290735	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01031(dist=549875),NONE(dist=NONE)	CDC73(dist=661016),NONE(dist=NONE)	ENSG00000237213(dist=158561),ENSG00000227240(dist=233645)	Na	Na	Na	Na	Na	Na	Het;T>C	40;2|2	Hom;T>C	128;0|4
N	N	-	1	193935104	193935104	G	A	snp	intergenic	 	 	 	 	RPL23AP22																		rs72740942	0.071885	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01031(dist=600021),NONE(dist=NONE)	CDC73(dist=711162),NONE(dist=NONE)	ENSG00000237213(dist=208707),ENSG00000227240(dist=183499)	Na	Na	Na	Na	Na	Na	Het;G>A	270;66|21	Hom;G>A	1852;0|68
N	N	-	1	1957037	1957037	T	C	snp	synonymous SNV	T330C	G110G	aliphatic,neutral	aliphatic,neutral	GABRD	Gabrd	ENSG00000187730	gamma-aminobutyric acid type A receptor delta subunit	chr1:1950780-1962192	Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	several psychiatric disorders; alcohol consumption; Psychiatric Disorders; epilepsy	Mice homozygous for a null allele exhibit increased postpartum depression and anxiety behaviors, lethality of pups due to materal neglect, and increased cued and contextual conditional freezing.		GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004890;GABA-A receptor activity;TAS|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GABRD		https://hpo.jax.org/app/browse/search?q=GABRD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137163	http://www.informatics.jax.org/searchtool/Search.do?query=GABRD&submit=Quick%0D%15881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRD	rs2229110	0.561302	0.6843	0.5934	1	0	0	exonic	exonic	exonic	GABRD	GABRD	ENSG00000187730	synonymous SNV	synonymous SNV	synonymous SNV	GABRD:NM_000815:exon4:c.T330C:p.G110G,	GABRD:uc001aip.2:exon4:c.T330C:p.G110G,	ENSG00000187730:ENST00000378585:exon4:c.T330C:p.G110G,	Het;T>C	2135;81|92	Hom;T>C	4539;1|171
N	N	-	1	19583636	19583636	C	T	snp	synonymous SNV	C270T	H90H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	MRTO4	Mrto4-ps2	ENSG00000053372	MRT4 homolog, ribosome maturation factor	chr1:19578033-19586622	This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 		GO:0000027;ribosomal large subunit assembly;IBA|GO:0000956;nuclear-transcribed mRNA catabolic process;IBA|GO:0006364;rRNA processing;IBA|GO:0042254;ribosome biogenesis;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IBA|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MRTO4	https://www.uniprot.org/uniprot/Q9UKD2			http://www.informatics.jax.org/searchtool/Search.do?query=MRTO4&submit=Quick%0D%957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRTO4	rs1126682	0.135982	0.1652	0.1679	1	0	0	exonic	exonic	exonic	MRTO4	MRTO4	ENSG00000053372	synonymous SNV	synonymous SNV	synonymous SNV	MRTO4:NM_016183:exon4:c.C270T:p.H90H,	MRTO4:uc001bbs.3:exon4:c.C270T:p.H90H,	ENSG00000053372:ENST00000330263:exon4:c.C270T:p.H90H,	Het;C>T	300;40|19	Hom;C>T	1274;0|48
N	N	-	1	19583734	19583734	G	A	snp	intronic	 	 	 	 	MRTO4	Mrto4-ps2	ENSG00000053372	MRT4 homolog, ribosome maturation factor	chr1:19578033-19586622	This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 		GO:0000027;ribosomal large subunit assembly;IBA|GO:0000956;nuclear-transcribed mRNA catabolic process;IBA|GO:0006364;rRNA processing;IBA|GO:0042254;ribosome biogenesis;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IBA|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MRTO4	https://www.uniprot.org/uniprot/Q9UKD2			http://www.informatics.jax.org/searchtool/Search.do?query=MRTO4&submit=Quick%0D%957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRTO4	rs4912057	0.645367	0	0	1	0	0	intronic	intronic	intronic	MRTO4	MRTO4	ENSG00000053372	Na	Na	Na	Na	Na	Na	Het;G>A	129;12|7	Hom;G>A	421;0|16
N	N	-	1	19584035	19584035	G	A	snp	intronic	 	 	 	 	MRTO4	Mrto4-ps2	ENSG00000053372	MRT4 homolog, ribosome maturation factor	chr1:19578033-19586622	This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 		GO:0000027;ribosomal large subunit assembly;IBA|GO:0000956;nuclear-transcribed mRNA catabolic process;IBA|GO:0006364;rRNA processing;IBA|GO:0042254;ribosome biogenesis;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IBA|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MRTO4	https://www.uniprot.org/uniprot/Q9UKD2			http://www.informatics.jax.org/searchtool/Search.do?query=MRTO4&submit=Quick%0D%957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRTO4	rs11811927	0.135982	0.1651	0.1679	1	0	0	intronic	intronic	intronic	MRTO4	MRTO4	ENSG00000053372	Na	Na	Na	Na	Na	Na	Het;G>A	90;27|8	Hom;G>A	918;0|34
N	N	-	1	19592812	19592812	T	TTTGG	indel	ncRNA_exonic	 	 	 	 	AKR7L		ENSG00000211454	aldo-keto reductase family 7 like (gene/pseudogene)	chr1:19592476-19600688	This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]			Aflatoxin activation and detoxification	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR7L			https://www.ncbi.nlm.nih.gov/omim/?term=608478	http://www.informatics.jax.org/searchtool/Search.do?query=AKR7L&submit=Quick%0D%17768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7L	rs34750252	0	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	AKR7L	AKR7L(uc021ohn.1:c.*982A>CCAAA,uc021oho.1:c.*982A>CCAAA)	ENSG00000211454(ENST00000457194:c.*1031A>CCAAA,ENST00000420396:c.*982A>CCAAA)	Na	Na	Na	Na	Na	Na	Het;+TTGG	794;32|36	Hom;+TTGG	2952;0|71
N	N	-	1	19595137	19595137	C	T	snp	nonsynonymous SNV	G229A	A77T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	AKR7L		ENSG00000211454	aldo-keto reductase family 7 like (gene/pseudogene)	chr1:19592476-19600688	This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]			Aflatoxin activation and detoxification	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR7L			https://www.ncbi.nlm.nih.gov/omim/?term=608478	http://www.informatics.jax.org/searchtool/Search.do?query=AKR7L&submit=Quick%0D%17768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7L	rs2235795	0.665136	0.5883	0.6876	0.11	1	9	ncRNA_exonic	exonic	exonic	AKR7L	AKR7L	ENSG00000211454	Na	nonsynonymous SNV	nonsynonymous SNV	Na	AKR7L:uc021ohn.1:exon6:c.G253A:p.A85T,AKR7L:uc021oho.1:exon4:c.G229A:p.A77T,	ENSG00000211454:ENST00000420396:exon4:c.G229A:p.A77T,	Het;C>T	1042;60|54	Hom;C>T	2831;0|108
N	N	-	1	19595892	19595892	G	A	snp	ncRNA_intronic	 	 	 	 	AKR7L		ENSG00000211454	aldo-keto reductase family 7 like (gene/pseudogene)	chr1:19592476-19600688	This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]			Aflatoxin activation and detoxification	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR7L			https://www.ncbi.nlm.nih.gov/omim/?term=608478	http://www.informatics.jax.org/searchtool/Search.do?query=AKR7L&submit=Quick%0D%17768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7L	rs6665423	0.666134	0.5946	0.6896	1	0	0	ncRNA_intronic	intronic	intronic	AKR7L	AKR7L	ENSG00000211454	Na	Na	Na	Na	Na	Na	Het;G>A	1075;36|49	Hom;G>A	1917;0|72
N	N	-	1	19596124	19596124	C	T	snp	nonsynonymous SNV	G47A	C16Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	AKR7L		ENSG00000211454	aldo-keto reductase family 7 like (gene/pseudogene)	chr1:19592476-19600688	This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]			Aflatoxin activation and detoxification	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR7L			https://www.ncbi.nlm.nih.gov/omim/?term=608478	http://www.informatics.jax.org/searchtool/Search.do?query=AKR7L&submit=Quick%0D%17768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7L	rs2235794	0.664936	0.5940	0.6867	0.78	7	9	ncRNA_exonic	exonic	exonic	AKR7L	AKR7L	ENSG00000211454	Na	nonsynonymous SNV	unknown	Na	AKR7L:uc021ohn.1:exon4:c.G47A:p.C16Y,	UNKNOWN	Het;C>T	454;16|23	Hom;C>T	1075;0|41
N	N	-	1	19596156	19596156	G	T	snp	synonymous SNV	C15A	T5T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AKR7L		ENSG00000211454	aldo-keto reductase family 7 like (gene/pseudogene)	chr1:19592476-19600688	This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]			Aflatoxin activation and detoxification	GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKR7L			https://www.ncbi.nlm.nih.gov/omim/?term=608478	http://www.informatics.jax.org/searchtool/Search.do?query=AKR7L&submit=Quick%0D%17768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7L	rs6665756	0.665935	0.5946	0.6863	1	0	0	ncRNA_exonic	exonic	exonic	AKR7L	AKR7L	ENSG00000211454	Na	synonymous SNV	unknown	Na	AKR7L:uc021ohn.1:exon4:c.C15A:p.T5T,	UNKNOWN	Het;G>T	427;32|25	Hom;G>T	1405;1|54
N	N	-	1	19611227	19611227	G	A	snp	synonymous SNV	C657T	P219P	hydrophobic,neutral	hydrophobic,neutral	AKR7A3		ENSG00000162482	aldo-keto reductase family 7 member A3	chr1:19609052-19615744	Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]	esophageal adenocarcinoma		Aflatoxin activation and detoxification	GO:0006081;cellular aldehyde metabolic process;TAS|GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AKR7A3			https://www.ncbi.nlm.nih.gov/omim/?term=608477	http://www.informatics.jax.org/searchtool/Search.do?query=AKR7A3&submit=Quick%0D%10713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7A3	rs1065658	0.146765	0.1659	0.1678	1	0	0	exonic	exonic	exonic	AKR7A3	AKR7A3	ENSG00000162482	synonymous SNV	synonymous SNV	synonymous SNV	AKR7A3:NM_012067:exon5:c.C657T:p.P219P,	AKR7A3:uc001bbv.1:exon5:c.C657T:p.P219P,	ENSG00000162482:ENST00000361640:exon5:c.C657T:p.P219P,	Het;G>A	791;69|46	Hom;G>A	1958;4|77
N	N	-	1	196311513	196311513	G	A	snp	intronic	 	 	 	 	KCNT2	Kcnt2	ENSG00000162687	potassium sodium-activated channel subfamily T member 2	chr1:196194909-196578355		Macular Degeneration; C-Reactive Protein	Mice homozygous for a null allele are viable with normal pain and itch responses.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA|GO:0005524;ATP binding;IEA|GO:0015269;calcium-activated potassium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KCNT2		https://hpo.jax.org/app/browse/search?q=KCNT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610044	http://www.informatics.jax.org/searchtool/Search.do?query=KCNT2&submit=Quick%0D%10768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNT2	rs6658788	0.434505	0	0	1	0	0	intronic	intronic	intronic	KCNT2	KCNT2	ENSG00000162687	Na	Na	Na	Na	Na	Na	Het;G>A	155;6|6	Hom;G>A	225;0|7
N	N	-	1	19652127	19652130	AGTT	A	indel	intronic	 	 	 	 	PQLC2	Pqlc2	ENSG00000040487	PQ loop repeat containing 2	chr1:19638820-19655794			 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015809;arginine transport;IDA|GO:0015819;lysine transport;IDA|GO:0055085;transmembrane transport;TAS|GO:0080144;amino acid homeostasis;IDA|GO:1903401;L-lysine transmembrane transport;IEA|GO:1903826;arginine transmembrane transport;IEA|GO:1990822;basic amino acid transmembrane transport;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031301;integral component of organelle membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0015174;basic amino acid transmembrane transporter activity;TAS|GO:0015181;arginine transmembrane transporter activity;IDA|GO:0015189;L-lysine transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PQLC2	https://www.uniprot.org/uniprot/Q6ZP29		https://www.ncbi.nlm.nih.gov/omim/?term=614760	http://www.informatics.jax.org/searchtool/Search.do?query=PQLC2&submit=Quick%0D%818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC2	rs199660210	0	0.3367	0.4606	1	0	0	intronic	intronic	intronic	PQLC2	PQLC2	ENSG00000040487	Na	Na	Na	Na	Na	Na	Het;-GTT	479;3|13	Hom;-GTT	574;1|15
N	N	-	1	19652135	19652135	G	GGT	indel	intronic	 	 	 	 	PQLC2	Pqlc2	ENSG00000040487	PQ loop repeat containing 2	chr1:19638820-19655794			 	Miscellaneous transport and binding events	GO:0006810;transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015809;arginine transport;IDA|GO:0015819;lysine transport;IDA|GO:0055085;transmembrane transport;TAS|GO:0080144;amino acid homeostasis;IDA|GO:1903401;L-lysine transmembrane transport;IEA|GO:1903826;arginine transmembrane transport;IEA|GO:1990822;basic amino acid transmembrane transport;IEA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031301;integral component of organelle membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0015174;basic amino acid transmembrane transporter activity;TAS|GO:0015181;arginine transmembrane transporter activity;IDA|GO:0015189;L-lysine transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PQLC2	https://www.uniprot.org/uniprot/Q6ZP29		https://www.ncbi.nlm.nih.gov/omim/?term=614760	http://www.informatics.jax.org/searchtool/Search.do?query=PQLC2&submit=Quick%0D%818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC2	rs74347523	0.00219649	0	0	1	0	0	intronic	intronic	intronic	PQLC2	PQLC2	ENSG00000040487	Na	Na	Na	Na	Na	Na	Het;+GT	479;3|12	Hom;+GT	574;1|14
N	N	-	1	196642072	196642072	C	T	snp	intronic	 	 	 	 	CFH	Cfh	ENSG00000000971	complement factor H	chr1:196621008-196716634	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]	lung cancer; diabetes, type 1; Cardiovascular Diseases|Kidney Failure, Chronic; atypical hemolytic uremic syndrome; Choroidal Neovascularization|Macular Degeneration|Retinal Drusen; Lymphoma, Non-Hodgkin; Alzheimer's disease ; age-related macular degeneration; Dengue Hemorrhagic Fever; Coronary Disease|Hyperlipoproteinemia Type II; Haemolytic uraemic syndrome; patent ductus arteriosus; Glomerulonephritis, IGA; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases; Macular Degeneration|Nephritis, Hereditary|Retinal Degeneration|Retinal Drusen; macular degeneration; Myocardial Infarction; blood pressure, arterial hypertension; myocardial infarct; thromboembolism, venous; C-reactive protein; stroke, ischemic; Age-related macular degeneration; myocardial infarct; Diabetic Nephropathies|Diabetic Nephropathy; Arthritis, Rheumatoid|; Coronary Disease; Blind Vision|Blindness|Choroidal Neovascularization|Macular Degeneration; Atherosclerosis|Carotid Artery Diseases; Coronary Disease|Coronary heart disease|Myocardial Infarction; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Recurrence; Atherosclerosis|Inflammation|Macular Degeneration; Angiomatosis|Choroidal Neovascularization|Macular Degeneration; hypertension; retinal venular dilatation; bladder cancer; macular degeneration, age-related; Parkinson's disease; Furunculosis|Staphylococcal Infections; Pre-Eclampsia; lung cancer ; Systemic inflam response synd|Systemic Inflammatory Response Syndrome; Macular Degeneration; age-related maculopathy; choroidal neovascularization geographic atrophy macular degeneration; Alzheimer's disease; Chlamydophila Infections|Macular Degeneration; Retinal Diseases; Meningococcal Infections; Choroidal Neovascularization|Macular Degeneration; Diabetes Mellitus, Type 2|Inflammatory Bowel Diseases|Macular Degeneration|Prostatic Neoplasms; choroidal neovascularization; atherosclerosis, coronary myocardial infarct; Cardiovascular Diseases|Inflammation|Macular Degeneration; Geographic Atrophy|Macular Degeneration|Retinal Drusen; Choroiditis|Macular Degeneration; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Chlamydia Infections|Macular Degeneration; Diseases in Twins|Macular Degeneration|Retinal Drusen; atherosclerosis, coronary; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis; macular degeneration; soft drusen; Ataxia Telangiectasia; glomerulonephritis; Cardiovascular Diseases|Hyperlipoproteinemia Type II; Chronic renal failure|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease; null; heart disease, ischemic; chronic obstructive pulmonary disease; Coronary Artery Disease; hemolytic uremic syndrome; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases|Retinal Neovascularization; Retinopathy of Prematurity; Pseudoxanthoma Elasticum; Choroidal Neovascularization|Geographic Atrophy; Geographic Atrophy|Macular Degeneration; Choroid Diseases|Peripheral Vascular Diseases; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; glomerular filtration rate macular degeneration	Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age.	Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CFH	https://www.uniprot.org/uniprot/P08603	https://hpo.jax.org/app/browse/search?q=CFH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134370	http://www.informatics.jax.org/searchtool/Search.do?query=CFH&submit=Quick%0D%275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFH	rs551397	0.468051	0.3777	0.3350	1	0	0	intronic	intronic	intronic	CFH	CFH	ENSG00000000971	Na	Na	Na	Na	Na	Na	Het;C>T	505;15|21	Hom;C>T	651;0|24
N	N	-	1	196642233	196642233	G	A	snp	nonsynonymous SNV	G184A	V62I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CFH	Cfh	ENSG00000000971	complement factor H	chr1:196621008-196716634	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]	lung cancer; diabetes, type 1; Cardiovascular Diseases|Kidney Failure, Chronic; atypical hemolytic uremic syndrome; Choroidal Neovascularization|Macular Degeneration|Retinal Drusen; Lymphoma, Non-Hodgkin; Alzheimer's disease ; age-related macular degeneration; Dengue Hemorrhagic Fever; Coronary Disease|Hyperlipoproteinemia Type II; Haemolytic uraemic syndrome; patent ductus arteriosus; Glomerulonephritis, IGA; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases; Macular Degeneration|Nephritis, Hereditary|Retinal Degeneration|Retinal Drusen; macular degeneration; Myocardial Infarction; blood pressure, arterial hypertension; myocardial infarct; thromboembolism, venous; C-reactive protein; stroke, ischemic; Age-related macular degeneration; myocardial infarct; Diabetic Nephropathies|Diabetic Nephropathy; Arthritis, Rheumatoid|; Coronary Disease; Blind Vision|Blindness|Choroidal Neovascularization|Macular Degeneration; Atherosclerosis|Carotid Artery Diseases; Coronary Disease|Coronary heart disease|Myocardial Infarction; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Recurrence; Atherosclerosis|Inflammation|Macular Degeneration; Angiomatosis|Choroidal Neovascularization|Macular Degeneration; hypertension; retinal venular dilatation; bladder cancer; macular degeneration, age-related; Parkinson's disease; Furunculosis|Staphylococcal Infections; Pre-Eclampsia; lung cancer ; Systemic inflam response synd|Systemic Inflammatory Response Syndrome; Macular Degeneration; age-related maculopathy; choroidal neovascularization geographic atrophy macular degeneration; Alzheimer's disease; Chlamydophila Infections|Macular Degeneration; Retinal Diseases; Meningococcal Infections; Choroidal Neovascularization|Macular Degeneration; Diabetes Mellitus, Type 2|Inflammatory Bowel Diseases|Macular Degeneration|Prostatic Neoplasms; choroidal neovascularization; atherosclerosis, coronary myocardial infarct; Cardiovascular Diseases|Inflammation|Macular Degeneration; Geographic Atrophy|Macular Degeneration|Retinal Drusen; Choroiditis|Macular Degeneration; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Chlamydia Infections|Macular Degeneration; Diseases in Twins|Macular Degeneration|Retinal Drusen; atherosclerosis, coronary; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis; macular degeneration; soft drusen; Ataxia Telangiectasia; glomerulonephritis; Cardiovascular Diseases|Hyperlipoproteinemia Type II; Chronic renal failure|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease; null; heart disease, ischemic; chronic obstructive pulmonary disease; Coronary Artery Disease; hemolytic uremic syndrome; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases|Retinal Neovascularization; Retinopathy of Prematurity; Pseudoxanthoma Elasticum; Choroidal Neovascularization|Geographic Atrophy; Geographic Atrophy|Macular Degeneration; Choroid Diseases|Peripheral Vascular Diseases; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; glomerular filtration rate macular degeneration	Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age.	Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CFH	https://www.uniprot.org/uniprot/P08603	https://hpo.jax.org/app/browse/search?q=CFH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134370	http://www.informatics.jax.org/searchtool/Search.do?query=CFH&submit=Quick%0D%275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFH	rs800292	0.468051	0.3866	0.3210	0.17	2	12	exonic	exonic	exonic	CFH	CFH	ENSG00000000971	nonsynonymous SNV	nonsynonymous SNV	unknown	CFH:NM_000186:exon2:c.G184A:p.V62I,CFH:NM_001014975:exon2:c.G184A:p.V62I,	CFH:uc009wyx.3:exon2:c.G184A:p.V62I,CFH:uc001gtj.4:exon2:c.G184A:p.V62I,CFH:uc009wyw.3:exon2:c.G184A:p.V62I,CFH:uc001gti.4:exon2:c.G184A:p.V62I,	UNKNOWN	Het;G>A	958;69|49	Hom;G>A	2715;0|103
N	N	-	1	196642969	196642969	C	CTT	indel	intronic	 	 	 	 	CFH	Cfh	ENSG00000000971	complement factor H	chr1:196621008-196716634	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]	lung cancer; diabetes, type 1; Cardiovascular Diseases|Kidney Failure, Chronic; atypical hemolytic uremic syndrome; Choroidal Neovascularization|Macular Degeneration|Retinal Drusen; Lymphoma, Non-Hodgkin; Alzheimer's disease ; age-related macular degeneration; Dengue Hemorrhagic Fever; Coronary Disease|Hyperlipoproteinemia Type II; Haemolytic uraemic syndrome; patent ductus arteriosus; Glomerulonephritis, IGA; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases; Macular Degeneration|Nephritis, Hereditary|Retinal Degeneration|Retinal Drusen; macular degeneration; Myocardial Infarction; blood pressure, arterial hypertension; myocardial infarct; thromboembolism, venous; C-reactive protein; stroke, ischemic; Age-related macular degeneration; myocardial infarct; Diabetic Nephropathies|Diabetic Nephropathy; Arthritis, Rheumatoid|; Coronary Disease; Blind Vision|Blindness|Choroidal Neovascularization|Macular Degeneration; Atherosclerosis|Carotid Artery Diseases; Coronary Disease|Coronary heart disease|Myocardial Infarction; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Recurrence; Atherosclerosis|Inflammation|Macular Degeneration; Angiomatosis|Choroidal Neovascularization|Macular Degeneration; hypertension; retinal venular dilatation; bladder cancer; macular degeneration, age-related; Parkinson's disease; Furunculosis|Staphylococcal Infections; Pre-Eclampsia; lung cancer ; Systemic inflam response synd|Systemic Inflammatory Response Syndrome; Macular Degeneration; age-related maculopathy; choroidal neovascularization geographic atrophy macular degeneration; Alzheimer's disease; Chlamydophila Infections|Macular Degeneration; Retinal Diseases; Meningococcal Infections; Choroidal Neovascularization|Macular Degeneration; Diabetes Mellitus, Type 2|Inflammatory Bowel Diseases|Macular Degeneration|Prostatic Neoplasms; choroidal neovascularization; atherosclerosis, coronary myocardial infarct; Cardiovascular Diseases|Inflammation|Macular Degeneration; Geographic Atrophy|Macular Degeneration|Retinal Drusen; Choroiditis|Macular Degeneration; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Chlamydia Infections|Macular Degeneration; Diseases in Twins|Macular Degeneration|Retinal Drusen; atherosclerosis, coronary; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis; macular degeneration; soft drusen; Ataxia Telangiectasia; glomerulonephritis; Cardiovascular Diseases|Hyperlipoproteinemia Type II; Chronic renal failure|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease; null; heart disease, ischemic; chronic obstructive pulmonary disease; Coronary Artery Disease; hemolytic uremic syndrome; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases|Retinal Neovascularization; Retinopathy of Prematurity; Pseudoxanthoma Elasticum; Choroidal Neovascularization|Geographic Atrophy; Geographic Atrophy|Macular Degeneration; Choroid Diseases|Peripheral Vascular Diseases; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; glomerular filtration rate macular degeneration	Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age.	Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CFH	https://www.uniprot.org/uniprot/P08603	https://hpo.jax.org/app/browse/search?q=CFH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134370	http://www.informatics.jax.org/searchtool/Search.do?query=CFH&submit=Quick%0D%275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFH	rs35507625	0.305711	0	0.2568	1	0	0	intronic	intronic	intronic	CFH	CFH	ENSG00000000971	Na	Na	Na	Na	Na	Na	Het;+TT	1743;60|65	Hom;+TT	3225;2|91
N	N	-	1	19683301	19683301	G	T	snp	intronic	 	 	 	 	CAPZB	Capzb	ENSG00000077549	capping actin protein of muscle Z-line beta subunit	chr1:19665267-19812066	This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013]	Thyrotropin; Insulin Resistance; Goiter; Insulin; Tobacco Use Disorder	Mice homozygous for a conditional allele activated in the ear exhibit increased ABR threshold, absent DPOE, reduced vestibular function, head shaking and abnormal stereocilia length and width in the cochlea and utricle.	Factors involved in megakaryocyte development and platelet production	GO:0006928;movement of cell or subcellular component;TAS|GO:0007010;cytoskeleton organization;IMP|GO:0007596;blood coagulation;TAS|GO:0010591;regulation of lamellipodium assembly;IBA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0030030;cell projection organization;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0031115;negative regulation of microtubule polymerization;IEA|GO:0031175;neuron projection development;IEA|GO:0048747;muscle fiber development;IEA|GO:0051016;barbed-end actin filament capping;IEA|GO:0051490;negative regulation of filopodium assembly;IBA|GO:0051693;actin filament capping;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IBA|GO:0005903;brush border;IEA|GO:0008290;F-actin capping protein complex;IEA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030863;cortical cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA|GO:0071203;WASH complex;IDA	GO:0003779;actin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CAPZB	https://www.uniprot.org/uniprot/P47756		https://www.ncbi.nlm.nih.gov/omim/?term=601572	http://www.informatics.jax.org/searchtool/Search.do?query=CAPZB&submit=Quick%0D%1630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPZB	rs169957	0.477835	0	0	1	0	0	intronic	intronic	intronic	CAPZB	CAPZB	ENSG00000077549	Na	Na	Na	Na	Na	Na	Het;G>T	335;13|15	Hom;G>T	1058;0|37
N	N	-	1	1974967	1974967	G	A	snp	intergenic	 	 	 	 	GABRD	Gabrd	ENSG00000187730	gamma-aminobutyric acid type A receptor delta subunit	chr1:1950780-1962192	Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	several psychiatric disorders; alcohol consumption; Psychiatric Disorders; epilepsy	Mice homozygous for a null allele exhibit increased postpartum depression and anxiety behaviors, lethality of pups due to materal neglect, and increased cued and contextual conditional freezing.		GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004890;GABA-A receptor activity;TAS|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GABRD		https://hpo.jax.org/app/browse/search?q=GABRD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137163	http://www.informatics.jax.org/searchtool/Search.do?query=GABRD&submit=Quick%0D%15881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRD	rs3121824	0.151957	0	0	1	0	0	intergenic	intergenic	intergenic	GABRD(dist=12775),PRKCZ(dist=6942)	GABRD(dist=12775),PRKCZ(dist=6942)	ENSG00000187730(dist=12775),ENSG00000226969(dist=5675)	Na	Na	Na	Na	Na	Na	Het;G>A	47;1|3	Hom;G>A	120;0|6
N	N	-	1	197896728	197896728	T	C	snp	synonymous SNV	T741C	N247N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LHX9	Lhx9	ENSG00000143355	LIM homeobox 9	chr1:197881037-197904608	This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]		Homozygotes for a targeted null mutation exhibit failed proliferation of the somatic cells of the genital ridge resulting in lack of discrete gonad formation, infertility in both sexes, and female-like genitalia in genetically male mice.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008045;motor neuron axon guidance;ISS|GO:0008283;cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0035262;gonad morphogenesis;IEA|GO:0045892;negative regulation of transcription, DNA-templated;ISS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;ISS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LHX9	https://www.uniprot.org/uniprot/Q9NQ69		https://www.ncbi.nlm.nih.gov/omim/?term=606066	http://www.informatics.jax.org/searchtool/Search.do?query=LHX9&submit=Quick%0D%8419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHX9	rs12046958	0.267971	0.1879	0.2363	1	0	0	exonic	exonic	exonic	LHX9	LHX9	ENSG00000143355	synonymous SNV	synonymous SNV	unknown	LHX9:NM_020204:exon4:c.T741C:p.N247N,LHX9:NM_001014434:exon5:c.T714C:p.N238N,	LHX9:uc001guk.1:exon4:c.T741C:p.N247N,LHX9:uc001gui.1:exon5:c.T714C:p.N238N,	UNKNOWN	Het;T>C	962;52|42	Hom;T>C	2401;0|84
N	N	-	1	198776931	198776931	C	A	snp	ncRNA_exonic	 	 	 	 	MIR181A1HG																		rs9660525	0.477236	0	0	1	0	0	downstream	downstream	ncRNA_exonic	MIR181A1HG	MIR181A1HG	ENSG00000229989	Na	Na	Na	Na	Na	Na	Het;C>A	65;2|3	Hom;C>A	94;0|4
N	N	-	1	198961683	198961683	C	CGAGA	indel	downstream	 	 	 	 	LINC01222																		rs10638007	0.771166	0	0	1	0	0	downstream	intergenic	intergenic	LINC01222	MIR181A1HG(dist=55125),BC040869(dist=13486)	ENSG00000225172(dist=7154),ENSG00000233410(dist=13486)	Na	Na	Na	Na	Na	Na	Het;+GAGA	717;3|17	Hom;+GAGA	1393;0|28
N	N	-	1	199357243	199357243	A	G	snp	ncRNA_exonic	 	 	 	 	AC099335.1																		rs502360	0.414936	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01221(dist=311379),NR5A2(dist=639487)	BC040869(dist=367077),NR5A2(dist=639487)	ENSG00000236468	Na	Na	Na	Na	Na	Na	Het;A>G	529;20|25	Hom;A>G	1343;0|48
N	N	-	1	199357350	199357350	T	C	snp	ncRNA_exonic	 	 	 	 	AC099335.1																		rs501451	0.399561	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01221(dist=311486),NR5A2(dist=639380)	BC040869(dist=367184),NR5A2(dist=639380)	ENSG00000236468	Na	Na	Na	Na	Na	Na	Het;T>C	216;11|9	Hom;T>C	450;0|14
N	N	-	1	199357363	199357363	T	C	snp	ncRNA_exonic	 	 	 	 	AC099335.1																		rs501382	0.399561	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01221(dist=311499),NR5A2(dist=639367)	BC040869(dist=367197),NR5A2(dist=639367)	ENSG00000236468	Na	Na	Na	Na	Na	Na	Het;T>C	211;9|10	Hom;T>C	265;0|10
N	N	-	1	2005740	2005740	T	C	snp	intronic	 	 	 	 	PRKCZ	Prkcz	ENSG00000067606	protein kinase C zeta	chr1:1981909-2116834	Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Intuition; Body Height; diabetes, type 2; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone	Young, not mature, homozygous null mice have reduced B cell numbers and abnormal secondary lymph organ structure. Young mice have fewer Peyer's patches, poor delineation of B & T cell zones, and fewer follicles of small size. Spleens have less prominent B cell follicles and abnormal marginal zones.	VEGFR2 mediated cell proliferation	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0001954;positive regulation of cell-matrix adhesion;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007616;long-term memory;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030010;establishment of cell polarity;IEA|GO:0031333;negative regulation of protein complex assembly;IMP|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0031584;activation of phospholipase D activity;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045630;positive regulation of T-helper 2 cell differentiation;IEA|GO:0046326;positive regulation of glucose import;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0047496;vesicle transport along microtubule;IEA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051222;positive regulation of protein transport;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0051899;membrane depolarization;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0070528;protein kinase C signaling;IEA|GO:0072659;protein localization to plasma membrane;IEA|GO:1990138;neuron projection extension;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000553;positive regulation of T-helper 2 cell cytokine production;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA|GO:2001181;positive regulation of interleukin-10 secretion;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;TAS|GO:0005768;endosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;TAS|GO:0016324;apical plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;TAS|GO:0031252;cell leading edge;IEA|GO:0031941;filamentous actin;IEA|GO:0031982;vesicle;IDA|GO:0035748;myelin sheath abaxonal region;IEA|GO:0043203;axon hillock;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045179;apical cortex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004697;protein kinase C activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015459;potassium channel regulator activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043274;phospholipase binding;IEA|GO:0043560;insulin receptor substrate binding;IC|GO:0046872;metal ion binding;IEA|GO:0071889;14-3-3 protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRKCZ	https://www.uniprot.org/uniprot/Q05513		https://www.ncbi.nlm.nih.gov/omim/?term=176982	http://www.informatics.jax.org/searchtool/Search.do?query=PRKCZ&submit=Quick%0D%1259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCZ	rs2459986	0.932508	0	0.9074	1	0	0	intronic	intronic	intronic	PRKCZ	PRKCZ	ENSG00000067606	Na	Na	Na	Na	Na	Na	Het;T>C	1479;50|73	Hom;T>C	2027;0|84
N	N	-	1	200610525	200610526	TA	T	indel	intronic	 	 	 	 	DDX59	Ddx59	ENSG00000118197	DEAD-box helicase 59	chr1:200593024-200639097		Electrocardiography	 		GO:0010501;RNA secondary structure unwinding;IBA	GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX59	https://www.uniprot.org/uniprot/Q5T1V6	https://hpo.jax.org/app/browse/search?q=DDX59&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615464	http://www.informatics.jax.org/searchtool/Search.do?query=DDX59&submit=Quick%0D%4950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX59	rs5780032	0.701078	0	0	1	0	0	intergenic	intronic	intronic	KIF14(dist=20663),DDX59(dist=2639)	DDX59	ENSG00000118197	Na	Na	Na	Na	Na	Na	Het;-A	255;3|16	Hom;-A	158;1|9
N	N	-	1	200816521	200816521	G	T	snp	intronic	 	 	 	 	CAMSAP2	Camsap2	ENSG00000118200	calmodulin regulated spectrin associated protein family member 2	chr1:200708686-200829832		Epilepsy	 		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0031175;neuron projection development;IEA|GO:0033043;regulation of organelle organization;IMP	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:1990752;microtubule end;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IEA|GO:0030507;spectrin binding;IEA|GO:0051011;microtubule minus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CAMSAP2	https://www.uniprot.org/uniprot/Q08AD1		https://www.ncbi.nlm.nih.gov/omim/?term=613775	http://www.informatics.jax.org/searchtool/Search.do?query=CAMSAP2&submit=Quick%0D%4951ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMSAP2	rs2172666	0.728834	0	0	1	0	0	intronic	intronic	intronic	CAMSAP2	CAMSAP2	ENSG00000118200	Na	Na	Na	Na	Na	Na	Het;G>T	113;2|5	Hom;G>T	243;0|7
N	N	-	1	201047075	201047075	A	G	snp	synonymous SNV	T1551C	G517G	aliphatic,neutral	aliphatic,neutral	CACNA1S	Cacna1s	ENSG00000081248	calcium voltage-gated channel subunit alpha1 S	chr1:201008642-201081694	This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]	Tooth Eruption; Tobacco Use Disorder; thyrotoxic periodic paralysis; Malignant Hyperthermia; Hyperparathyroidism, Secondary; periodic paralysis	Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen.	Phase 2 - plateau phase	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006936;muscle contraction;IMP|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;ISS|GO:0086010;membrane depolarization during action potential;IBA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;IDA|GO:0031674;I band;IDA|GO:1990454;L-type voltage-gated calcium channel complex;ISS	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1S	https://www.uniprot.org/uniprot/Q13698	https://hpo.jax.org/app/browse/search?q=CACNA1S&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114208	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1S&submit=Quick%0D%1767ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1S	rs4915477	0.571086	0.7360	0.5839	1	0	0	exonic	exonic	exonic	CACNA1S	CACNA1S	ENSG00000081248	synonymous SNV	synonymous SNV	unknown	CACNA1S:NM_000069:exon11:c.T1551C:p.G517G,	CACNA1S:uc001gvv.3:exon11:c.T1551C:p.G517G,	UNKNOWN	Het;A>G	1377;79|62	Hom;A>G	3345;0|119
N	N	-	1	201112981	201112981	A	G	snp	synonymous SNV	T441C	Y147Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	TMEM9	Tmem9	ENSG00000116857	transmembrane protein 9	chr1:201103900-201140702		Hip; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0008150;biological_process;ND	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM9	https://www.uniprot.org/uniprot/Q9P0T7		https://www.ncbi.nlm.nih.gov/omim/?term=616877	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM9&submit=Quick%0D%4802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM9	rs8158	0.693091	0.7320	0.7481	1	0	0	exonic	exonic	exonic	TMEM9	TMEM9	ENSG00000116857	synonymous SNV	synonymous SNV	unknown	TMEM9:NM_001288565:exon4:c.T366C:p.Y122Y,TMEM9:NM_016456:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288564:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288569:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288566:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288568:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288567:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288570:exon5:c.T375C:p.Y125Y,TMEM9:NM_001288571:exon5:c.T441C:p.Y147Y,	TMEM9:uc010ppo.2:exon5:c.T441C:p.Y147Y,TMEM9:uc001gwa.3:exon5:c.T366C:p.Y122Y,TMEM9:uc001gvz.3:exon5:c.T375C:p.Y125Y,TMEM9:uc001gvy.3:exon5:c.T366C:p.Y122Y,TMEM9:uc001gvx.3:exon4:c.T366C:p.Y122Y,	UNKNOWN	Het;A>G	687;19|29	Hom;A>G	1156;0|43
N	N	-	1	201162411	201162411	G	A	snp	UTR5	-11G>A	 	 	 	IGFN1	Igfn1	ENSG00000163395	immunoglobulin-like and fibronectin type III domain containing 1	chr1:201159953-201198080		Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGFN1			https://www.ncbi.nlm.nih.gov/omim/?term=617309	http://www.informatics.jax.org/searchtool/Search.do?query=IGFN1&submit=Quick%0D%10955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFN1	rs12089471	0.161142	0	0.2331	1	0	0	UTR5	UTR5	UTR5	IGFN1(NM_001164586:c.-11G>A)	IGFN1(uc001gwc.3:c.-11G>A)	ENSG00000163395(ENST00000295591:c.-20131G>A,ENST00000451870:c.-11G>A,ENST00000335211:c.-11G>A,ENST00000437879:c.-11G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	676;22|32	Hom;G>A	1630;0|64
N	N	-	1	201171007	201171007	T	G	snp	intronic	 	 	 	 	IGFN1	Igfn1	ENSG00000163395	immunoglobulin-like and fibronectin type III domain containing 1	chr1:201159953-201198080		Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGFN1			https://www.ncbi.nlm.nih.gov/omim/?term=617309	http://www.informatics.jax.org/searchtool/Search.do?query=IGFN1&submit=Quick%0D%10955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFN1	rs10800762	0.701478	0.6899	0.7036	1	0	0	intronic	intronic	intronic	IGFN1	IGFN1	ENSG00000163395	Na	Na	Na	Na	Na	Na	Het;T>G	277;21|13	Hom;T>G	467;0|20
N	N	-	1	201542619	201542619	G	T	snp	intergenic	 	 	 	 	AC096677.2																		rs17469541	0.0966454	0	0	1	0	0	intergenic	intergenic	intergenic	RPS10P7(dist=52899),NAV1(dist=74831)	RPS10P7(dist=52899),AX747377(dist=61736)	ENSG00000224536(dist=39883),ENSG00000269690(dist=49394)	Na	Na	Na	Na	Na	Na	Het;G>T	65;5|4	Hom;G>T	60;0|3
N	N	-	1	201777250	201777250	C	T	snp	nonsynonymous SNV	C2636T	S879L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	NAV1	Nav1	ENSG00000134369	neuron navigator 1	chr1:201592411-201796102	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]	Blood Pressure	 		GO:0001578;microtubule bundle formation;IEA|GO:0001764;neuron migration;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0043194;axon initial segment;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NAV1	https://www.uniprot.org/uniprot/Q8NEY1		https://www.ncbi.nlm.nih.gov/omim/?term=611628	http://www.informatics.jax.org/searchtool/Search.do?query=NAV1&submit=Quick%0D%6969ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV1	rs2820289	0.0856629	0.0547	0.0830	0.77	10	13	exonic	exonic	exonic	NAV1	NAV1	ENSG00000134369	nonsynonymous SNV	nonsynonymous SNV	unknown	NAV1:NM_001167738:exon15:c.C2636T:p.S879L,NAV1:NM_020443:exon18:c.C3818T:p.S1273L,	NAV1:uc001gwu.3:exon17:c.C3809T:p.S1270L,NAV1:uc021phi.1:exon18:c.C3818T:p.S1273L,NAV1:uc001gwx.3:exon15:c.C2636T:p.S879L,	UNKNOWN	Het;C>T	452;75|27	Hom;C>T	2651;0|99
N	N	-	1	201816639	201816645	ATCTTTT	A	indel	intronic	 	 	 	 	IPO9	Ipo9	ENSG00000198700	importin 9	chr1:201798269-201853422		Hippocampus	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.		GO:0006606;protein import into nucleus;NAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA|GO:0042393;histone binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IPO9				http://www.informatics.jax.org/searchtool/Search.do?query=IPO9&submit=Quick%0D%16966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO9	rs146207613	0	0.2736	0.2794	1	0	0	intronic	intronic	intronic	IPO9	IPO9	ENSG00000198700	Na	Na	Na	Na	Na	Na	Het;-TCTTTT	968;15|25	Hom;-TCTTTT	1719;0|39
N	N	-	1	201821443	201821443	T	C	snp	intronic	 	 	 	 	IPO9	Ipo9	ENSG00000198700	importin 9	chr1:201798269-201853422		Hippocampus	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.		GO:0006606;protein import into nucleus;NAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA|GO:0042393;histone binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IPO9				http://www.informatics.jax.org/searchtool/Search.do?query=IPO9&submit=Quick%0D%16966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO9	rs1400875	0.222444	0	0	1	0	0	intronic	intronic	intronic	IPO9	IPO9	ENSG00000198700	Na	Na	Na	Na	Na	Na	Het;T>C	114;4|5	Hom;T>C	294;0|8
N	N	-	1	201826340	201826340	C	T	snp	intronic	 	 	 	 	IPO9	Ipo9	ENSG00000198700	importin 9	chr1:201798269-201853422		Hippocampus	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.		GO:0006606;protein import into nucleus;NAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IDA|GO:0042393;histone binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IPO9				http://www.informatics.jax.org/searchtool/Search.do?query=IPO9&submit=Quick%0D%16966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO9	rs2172935	0.221645	0.2866	0.2800	1	0	0	intronic	intronic	intronic	IPO9	IPO9	ENSG00000198700	Na	Na	Na	Na	Na	Na	Het;C>T	765;67|38	Hom;C>T	3159;0|110
N	N	-	1	201869257	201869257	G	A	snp	nonsynonymous SNV	C884T	T295M	polar,hydrophilic,neutral	hydrophobic,neutral	LMOD1	Lmod1	ENSG00000163431	leiomodin 1	chr1:201865580-201915715	 The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks.  The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]	chronic obstructive pulmonary disease; Parkinson Disease; lung cancer; Type 2 Diabetes| edema | rosiglitazone; bladder cancer; lung cancer ; schizophrenia weight gain	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0030838;positive regulation of actin filament polymerization;IDA|GO:0045010;actin nucleation;IDA|GO:0051694;pointed-end actin filament capping;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0016020;membrane;TAS|GO:0030016;myofibril;IDA|GO:0030017;sarcomere;IEA	GO:0003779;actin binding;IEA|GO:0005523;tropomyosin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMOD1		https://hpo.jax.org/app/browse/search?q=LMOD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602715	http://www.informatics.jax.org/searchtool/Search.do?query=LMOD1&submit=Quick%0D%10963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMOD1	rs2820312	0.217851	0.2790	0.2790	0.31	4	13	exonic	exonic	exonic	LMOD1	LMOD1	ENSG00000163431	nonsynonymous SNV	nonsynonymous SNV	unknown	LMOD1:NM_012134:exon2:c.C884T:p.T295M,	LMOD1:uc021phm.1:exon2:c.C884T:p.T295M,LMOD1:uc010ppu.2:exon3:c.C731T:p.T244M,LMOD1:uc021phl.1:exon2:c.C884T:p.T295M,	UNKNOWN	Het;G>A	1535;144|83	Hom;G>A	5246;2|198
N	N	-	1	201952294	201952294	C	G	snp	intronic	 	 	 	 	RNPEP	Rnpep	ENSG00000176393	arginyl aminopeptidase	chr1:201951500-201975275		Pancreatic Neoplasms; Butyrylcholinesterase	 		GO:0006508;proteolysis;IC|GO:0043171;peptide catabolic process;IBA|GO:0045776;negative regulation of blood pressure;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;ISS|GO:0030141;secretory granule;IBA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0004301;epoxide hydrolase activity;NAS|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNPEP			https://www.ncbi.nlm.nih.gov/omim/?term=602675	http://www.informatics.jax.org/searchtool/Search.do?query=RNPEP&submit=Quick%0D%13849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNPEP	rs73074403	0.513179	0	0	1	0	0	intronic	intronic	intronic	RNPEP	RNPEP	ENSG00000176393	Na	Na	Na	Na	Na	Na	Het;C>G	364;3|11	Hom;C>G	730;0|17
N	N	-	1	201952310	201952310	T	G	snp	intronic	 	 	 	 	RNPEP	Rnpep	ENSG00000176393	arginyl aminopeptidase	chr1:201951500-201975275		Pancreatic Neoplasms; Butyrylcholinesterase	 		GO:0006508;proteolysis;IC|GO:0043171;peptide catabolic process;IBA|GO:0045776;negative regulation of blood pressure;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;ISS|GO:0030141;secretory granule;IBA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0004301;epoxide hydrolase activity;NAS|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNPEP			https://www.ncbi.nlm.nih.gov/omim/?term=602675	http://www.informatics.jax.org/searchtool/Search.do?query=RNPEP&submit=Quick%0D%13849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNPEP	rs112370844	0.513379	0	0	1	0	0	intronic	intronic	intronic	RNPEP	RNPEP	ENSG00000176393	Na	Na	Na	Na	Na	Na	Het;T>G	342;3|8	Hom;T>G	692;0|16
N	N	-	1	201952574	201952574	T	C	snp	UTR5	-17T>C	 	 	 	RNPEP	Rnpep	ENSG00000176393	arginyl aminopeptidase	chr1:201951500-201975275		Pancreatic Neoplasms; Butyrylcholinesterase	 		GO:0006508;proteolysis;IC|GO:0043171;peptide catabolic process;IBA|GO:0045776;negative regulation of blood pressure;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;ISS|GO:0030141;secretory granule;IBA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0004301;epoxide hydrolase activity;NAS|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNPEP			https://www.ncbi.nlm.nih.gov/omim/?term=602675	http://www.informatics.jax.org/searchtool/Search.do?query=RNPEP&submit=Quick%0D%13849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNPEP	rs4950806	0.564097	0	0.5896	1	0	0	intronic	intronic	UTR5	RNPEP	RNPEP	ENSG00000176393(ENST00000447312:c.-17T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	347;13|16	Hom;T>C	920;0|32
N	N	-	1	202130166	202130166	G	A	snp	UTR5	-231C>T	 	 	 	PTPN7	Ptpn7	ENSG00000143851	protein tyrosine phosphatase, non-receptor type 7	chr1:202116141-202130716	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]		Mice homozygous for disruptions in this gene display a normal phenotype.		GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPN7	https://www.uniprot.org/uniprot/P35236		https://www.ncbi.nlm.nih.gov/omim/?term=176889	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN7&submit=Quick%0D%8526ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN7	rs4420146	0.660543	0	0	1	0	0	UTR5	UTR5	UTR5	PTPN7(NM_002832:c.-231C>T)	PTPN7(uc001gxm.2:c.-231C>T,uc010ppw.2:c.-1739C>T,uc001gxn.3:c.-231C>T)	ENSG00000143851(ENST00000309017:c.-231C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	955;91|52	Hom;G>A	4160;0|151
N	N	-	1	202130754	202130754	T	C	snp	upstream	 	 	 	 	PTPN7	Ptpn7	ENSG00000143851	protein tyrosine phosphatase, non-receptor type 7	chr1:202116141-202130716	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]		Mice homozygous for disruptions in this gene display a normal phenotype.		GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPN7	https://www.uniprot.org/uniprot/P35236		https://www.ncbi.nlm.nih.gov/omim/?term=176889	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN7&submit=Quick%0D%8526ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN7	rs3934648	0.795527	0	0.7871	1	0	0	upstream	upstream	upstream	PTPN7	PTPN7	ENSG00000143851	Na	Na	Na	Na	Na	Na	Het;T>C	761;32|34	Hom;T>C	1703;0|61
N	N	-	1	202137318	202137318	A	G	snp	ncRNA_exonic	 	 	 	 	PTPRVP																		rs4950831	0.788139	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	PTPRVP	PTPN7(dist=6602),NONE(dist=NONE)	ENSG00000243323	Na	Na	Na	Na	Na	Na	Het;A>G	871;21|37	Hom;A>G	1809;0|64
N	N	-	1	202140228	202140228	G	A	snp	ncRNA_intronic	 	 	 	 	PTPRVP																		rs7528295	0.798922	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	PTPRVP	PTPN7(dist=9512),PTPRVP(dist=12467)	ENSG00000243323	Na	Na	Na	Na	Na	Na	Het;G>A	97;3|4	Hom;G>A	215;0|8
N	N	-	1	202140315	202140315	A	C	snp	ncRNA_exonic	 	 	 	 	PTPRVP																		rs7550457	0.814097	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	PTPRVP	PTPN7(dist=9599),PTPRVP(dist=12380)	ENSG00000243323	Na	Na	Na	Na	Na	Na	Het;A>C	529;20|23	Hom;A>C	991;0|37
N	N	-	1	202140400	202140400	A	G	snp	ncRNA_exonic	 	 	 	 	PTPRVP																		rs7550551	0.798922	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	PTPRVP	PTPN7(dist=9684),PTPRVP(dist=12295)	ENSG00000243323	Na	Na	Na	Na	Na	Na	Het;A>G	636;21|28	Hom;A>G	1227;0|41
N	N	-	1	202140638	202140638	T	C	snp	ncRNA_intronic	 	 	 	 	PTPRVP																		rs4397705	0.79992	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	PTPRVP	PTPN7(dist=9922),PTPRVP(dist=12057)	ENSG00000243323	Na	Na	Na	Na	Na	Na	Het;T>C	522;17|18	Hom;T>C	1031;0|32
N	N	-	1	202780530	202780530	T	C	snp	ncRNA_intronic	 	 	 	 	KDM5B-AS1																		rs2275895	0.149561	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	PCAT6	KDM5B-AS1	ENSG00000228288	Na	Na	Na	Na	Na	Na	Het;T>C	880;54|39	Hom;T>C	1897;0|65
N	N	-	1	202780663	202780663	T	C	snp	ncRNA_intronic	 	 	 	 	KDM5B-AS1																		rs2275896	0.476038	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	PCAT6	KDM5B-AS1	ENSG00000228288	Na	Na	Na	Na	Na	Na	Het;T>C	296;6|10	Hom;T>C	873;0|26
N	N	-	1	202780873	202780878	CCAATT	C	indel	ncRNA_exonic	 	 	 	 	PCAT6																		rs16729	0.149361	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PCAT6	KDM5B-AS1	ENSG00000228288	Na	Na	Na	Na	Na	Na	Het;-CAATT	3239;106|88	Hom;-CAATT	8386;0|188
N	N	-	1	202794787	202794787	T	C	snp	synonymous SNV	T153C	L51L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC641515																		rs12139944	0.179513	0	0.2350	1	0	0	ncRNA_exonic	exonic	exonic	MGAT4EP	LOC641515	ENSG00000184774	Na	synonymous SNV	unknown	Na	LOC641515:uc021php.1:exon1:c.T153C:p.L51L,	UNKNOWN	Het;T>C	1593;55|63	Hom;T>C	3845;3|140
N	N	-	1	202795849	202795849	G	A	snp	ncRNA_exonic	 	 	 	 	MGAT4EP																		rs41264010	0.178115	0	0	1	0	0	ncRNA_exonic	downstream	UTR3	MGAT4EP	LOC641515	ENSG00000184774(ENST00000330493:c.*597G>A,ENST00000549576:c.*597G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	701;73|36	Hom;G>A	3105;0|117
N	N	-	1	202844092	202844092	T	C	snp	ncRNA_exonic	 	 	 	 	LOC148709																		rs10800875	0.819289	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC148709	LOC148709	ENSG00000234996	Na	Na	Na	Na	Na	Na	Het;T>C	347;3|14	Hom;T>C	650;0|23
N	N	-	1	202855508	202855508	C	T	snp	intronic	 	 	 	 	RABIF	Rabif	ENSG00000183155	RAB interacting factor	chr1:202848085-202858263	This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011]	Hypertension	 		GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;IBA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061025;membrane fusion;TAS	GO:0005829;cytosol;IBA|GO:0016020;membrane;IBA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RABIF			https://www.ncbi.nlm.nih.gov/omim/?term=603417	http://www.informatics.jax.org/searchtool/Search.do?query=RABIF&submit=Quick%0D%14934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABIF	rs12091234	0.4377	0	0	1	0	0	intronic	intronic	intronic	RABIF	RABIF	ENSG00000183155	Na	Na	Na	Na	Na	Na	Het;C>T	88;1|5	Hom;C>T	219;0|10
N	N	-	1	202861566	202861566	A	G	snp	UTR3	*95T>C	 	 	 	KLHL12	Klhl12	ENSG00000117153	kelch like family member 12	chr1:202860228-202897764	This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Hypertension	 	Degradation of DVL	GO:0006513;protein monoubiquitination;IDA|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IDA|GO:0014029;neural crest formation;IMP|GO:0014032;neural crest cell development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0048208;COPII vesicle coating;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS	GO:0000139;Golgi membrane;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0030127;COPII vesicle coat;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KLHL12	https://www.uniprot.org/uniprot/Q53G59		https://www.ncbi.nlm.nih.gov/omim/?term=614522	http://www.informatics.jax.org/searchtool/Search.do?query=KLHL12&submit=Quick%0D%4845ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL12	rs1042990	0.45008	0	0	1	0	0	UTR3	UTR3	UTR3	KLHL12(NM_001303051:c.*95T>C,NM_001303109:c.*95T>C,NM_021633:c.*95T>C)	KLHL12(uc001gym.1:c.*199T>C,uc001gyn.1:c.*199T>C,uc001gyo.1:c.*95T>C,uc010pqc.1:c.*95T>C)	ENSG00000117153(ENST00000367261:c.*95T>C,ENST00000367259:c.*199T>C,ENST00000435533:c.*95T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	182;11|10	Hom;A>G	523;0|18
N	N	-	1	202881302	202881302	C	T	snp	ncRNA_exonic	 	 	 	 	HNRNPA1P59																		rs6692075	0.447883	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KLHL12	KLHL12	ENSG00000230280	Na	Na	Na	Na	Na	Na	Het;C>T	296;20|15	Hom;C>T	790;0|29
N	N	-	1	202881609	202881609	T	C	snp	ncRNA_exonic	 	 	 	 	HNRNPA1P59																		rs10753927	0.8127	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KLHL12	KLHL12	ENSG00000230280	Na	Na	Na	Na	Na	Na	Het;T>C	129;10|6	Hom;T>C	701;0|22
N	N	-	1	202887295	202887295	G	A	snp	intronic	 	 	 	 	KLHL12	Klhl12	ENSG00000117153	kelch like family member 12	chr1:202860228-202897764	This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Hypertension	 	Degradation of DVL	GO:0006513;protein monoubiquitination;IDA|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IDA|GO:0014029;neural crest formation;IMP|GO:0014032;neural crest cell development;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0048208;COPII vesicle coating;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS	GO:0000139;Golgi membrane;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0030127;COPII vesicle coat;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KLHL12	https://www.uniprot.org/uniprot/Q53G59		https://www.ncbi.nlm.nih.gov/omim/?term=614522	http://www.informatics.jax.org/searchtool/Search.do?query=KLHL12&submit=Quick%0D%4845ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL12	rs2275734	0.438299	0.5451	0.5435	1	0	0	intronic	intronic	intronic	KLHL12	KLHL12	ENSG00000117153	Na	Na	Na	Na	Na	Na	Het;G>A	267;13|13	Hom;G>A	677;0|25
N	N	-	1	202956340	202956340	T	G	snp	nonsynonymous SNV	A131C	E44A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	LOC401980																		rs705754	0.210064	0	0.2993	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC100506747	LOC401980	ENSG00000234761	Na	nonsynonymous SNV	Na	Na	LOC401980:uc021phr.1:exon5:c.A131C:p.E44A,	Na	Het;T>G	1742;98|83	Hom;T>G	4162;0|145
N	N	-	1	202977665	202977665	G	GT	indel	intronic	 	 	 	 	TMEM183A	Tmem183a	ENSG00000163444	transmembrane protein 183A	chr1:202976514-202993976		Hypertension	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM183A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM183A&submit=Quick%0D%10966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM183A	rs3834027	0	0	0	1	0	0	intronic	intronic	intronic	TMEM183A,TMEM183B	TMEM183A	ENSG00000163444	Na	Na	Na	Na	Na	Na	Het;+T	262;18|14	Hom;+T	967;0|35
N	N	-	1	202978032	202978032	C	G	snp	intronic	 	 	 	 	TMEM183A	Tmem183a	ENSG00000163444	transmembrane protein 183A	chr1:202976514-202993976		Hypertension	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM183A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM183A&submit=Quick%0D%10966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM183A	rs1418444	0.459864	0	0	1	0	0	intronic	intronic	intronic	TMEM183A,TMEM183B	TMEM183A	ENSG00000163444	Na	Na	Na	Na	Na	Na	Het;C>G	475;22|23	Hom;C>G	934;0|37
N	N	-	1	202987770	202987770	T	C	snp	intronic	 	 	 	 	TMEM183A	Tmem183a	ENSG00000163444	transmembrane protein 183A	chr1:202976514-202993976		Hypertension	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM183A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM183A&submit=Quick%0D%10966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM183A	rs782788	0.349042	0	0	1	0	0	intronic	intronic	intronic	TMEM183A,TMEM183B	TMEM183A	ENSG00000163444	Na	Na	Na	Na	Na	Na	Het;T>C	818;17|35	Hom;T>C	1058;0|35
N	N	-	1	202987796	202987796	G	A	snp	intronic	 	 	 	 	TMEM183A	Tmem183a	ENSG00000163444	transmembrane protein 183A	chr1:202976514-202993976		Hypertension	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM183A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM183A&submit=Quick%0D%10966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM183A	rs782787	0.333067	0	0	1	0	0	intronic	intronic	intronic	TMEM183A,TMEM183B	TMEM183A	ENSG00000163444	Na	Na	Na	Na	Na	Na	Het;G>A	641;11|28	Hom;G>A	723;0|26
N	N	-	1	202993198	202993198	C	A	snp	UTR3	*1030C>A	 	 	 	TMEM183A	Tmem183a	ENSG00000163444	transmembrane protein 183A	chr1:202976514-202993976		Hypertension	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM183A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM183A&submit=Quick%0D%10966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM183A	rs1046532	0.345048	0	0	1	0	0	downstream	downstream	UTR3	TMEM183A,TMEM183B	TMEM183A	ENSG00000163444(ENST00000367242:c.*1030C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	1687;62|78	Hom;C>A	3398;1|126
N	N	-	1	202993848	202993848	G	A	snp	UTR3	*1680G>A	 	 	 	TMEM183A	Tmem183a	ENSG00000163444	transmembrane protein 183A	chr1:202976514-202993976		Hypertension	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM183A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM183A&submit=Quick%0D%10966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM183A	rs14197	0.348442	0	0	1	0	0	downstream	downstream	UTR3	TMEM183A	TMEM183A	ENSG00000163444(ENST00000367242:c.*1680G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	902;51|43	Hom;G>A	2612;0|98
N	N	-	1	203023122	203023122	A	C	snp	intronic	 	 	 	 	PPFIA4	Ppfia4	ENSG00000143847	PTPRF interacting protein alpha 4	chr1:202995626-203047868	PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]	Hypertension	 	Receptor-type tyrosine-protein phosphatases	GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS	GO:0005622;intracellular;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IEA|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPFIA4	https://www.uniprot.org/uniprot/O75335		https://www.ncbi.nlm.nih.gov/omim/?term=603145	http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA4&submit=Quick%0D%8524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA4	rs2291691	0.220248	0.2297	0.2923	1	0	0	intronic	intronic	intronic	PPFIA4	PPFIA4	ENSG00000143847	Na	Na	Na	Na	Na	Na	Het;A>C	199;11|11	Hom;A>C	356;1|13
N	N	-	1	203025209	203025209	G	C	snp	intronic	 	 	 	 	PPFIA4	Ppfia4	ENSG00000143847	PTPRF interacting protein alpha 4	chr1:202995626-203047868	PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]	Hypertension	 	Receptor-type tyrosine-protein phosphatases	GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS	GO:0005622;intracellular;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IEA|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPFIA4	https://www.uniprot.org/uniprot/O75335		https://www.ncbi.nlm.nih.gov/omim/?term=603145	http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA4&submit=Quick%0D%8524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA4	rs11590950	0.18151	0.1907	0.2098	1	0	0	intronic	intronic	intronic	PPFIA4	PPFIA4	ENSG00000143847	Na	Na	Na	Na	Na	Na	Het;G>C	663;24|33	Hom;G>C	1226;0|42
N	N	-	1	203274302	203274302	G	C	snp	ncRNA_exonic	 	 	 	 	LINC01136																		rs41264039	0.282149	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01136	LOC730227	ENSG00000233791	Na	Na	Na	Na	Na	Na	Het;G>C	839;29|32	Hom;G>C	1951;0|63
N	N	-	1	203890288	203890288	A	G	snp	intergenic	 	 	 	 	HSPE1P6																		rs6593983	0.234425	0	0	1	0	0	intergenic	intergenic	intergenic	SNRPE(dist=50008),LINC00303(dist=111287)	SNRPE(dist=50008),Mir_544(dist=78091)	ENSG00000232917(dist=17141),ENSG00000237379(dist=33480)	Na	Na	Na	Na	Na	Na	Het;A>G	149;4|8	Hom;A>G	305;0|13
N	N	-	1	204103618	204103618	G	A	snp	intronic	 	 	 	 	ETNK2	Etnk2	ENSG00000143845	ethanolamine kinase 2	chr1:204100190-204121307	The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	t-PA and PAI-1 levels; Hypertension; Acetaminophen	Homozygous mutation of this gene results in maternal-specific intrauterine growth retardation resulting in reduced litter size and perinatal lethality due to extensive placental thrombosis.	Synthesis of PE	GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0008150;biological_process;ND|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0016310;phosphorylation;IEA|GO:0035264;multicellular organism growth;IEA	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004305;ethanolamine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ETNK2	https://www.uniprot.org/uniprot/Q9NVF9		https://www.ncbi.nlm.nih.gov/omim/?term=609859	http://www.informatics.jax.org/searchtool/Search.do?query=ETNK2&submit=Quick%0D%8523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ETNK2	rs2293335	0.49361	0.5434	0.6372	1	0	0	intronic	intronic	intronic	ETNK2	ETNK2	ENSG00000143845	Na	Na	Na	Na	Na	Na	Het;G>A	291;17|14	Hom;G>A	813;0|29
N	N	-	1	204115934	204115934	C	T	snp	intronic	 	 	 	 	ETNK2	Etnk2	ENSG00000143845	ethanolamine kinase 2	chr1:204100190-204121307	The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	t-PA and PAI-1 levels; Hypertension; Acetaminophen	Homozygous mutation of this gene results in maternal-specific intrauterine growth retardation resulting in reduced litter size and perinatal lethality due to extensive placental thrombosis.	Synthesis of PE	GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0008150;biological_process;ND|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0016310;phosphorylation;IEA|GO:0035264;multicellular organism growth;IEA	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004305;ethanolamine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ETNK2	https://www.uniprot.org/uniprot/Q9NVF9		https://www.ncbi.nlm.nih.gov/omim/?term=609859	http://www.informatics.jax.org/searchtool/Search.do?query=ETNK2&submit=Quick%0D%8523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ETNK2	rs2293337	0.20028	0.2793	0.2751	1	0	0	intronic	intronic	intronic	ETNK2	ETNK2	ENSG00000143845	Na	Na	Na	Na	Na	Na	Het;C>T	517;34|26	Hom;C>T	1617;0|54
N	N	-	1	204129671	204129671	A	C	snp	intronic	 	 	 	 	REN	Ren1	ENSG00000143839	renin	chr1:204123944-204135465	Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008]	Essential Hypertension; blood pressure, arterial renin activity; t-PA and PAI-1 levels; Diabetes Mellitus, Type 2|Hypertension; Alzheimer's Disease; preeclampsia; Diabetes Mellitus|Diabetic Angiopathies|Hypertension; Alzheimer's disease ; Heart Failure|Hypertension; aldosterone responsiveness to the renin-angiotensin system; nephropathy, diabetic; Brain Ischemia|Carotid Stenosis; Cicatrization|Kidney Diseases|Vesico-Ureteral Reflux|Vesicoureteral reflux; hypertension; glaucoma; glaucoma, primary open-angle; Alcoholism; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; stroke; Coronary Artery Disease|Myocardial Infarction; sudden cardiac arrest risk; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chronic renal failure|Kidney Failure, Chronic; Hypertension|Pre-Eclampsia; Cardiovascular Diseases|Coronary Artery Disease	Homozygous inactivation of this gene leads to postnatal lethality, reduced plasma renin level, decreased mean arterial pressure, and kidney defects such as atrophy, altered juxtaglomerular cell and macula densa morphology, polyuria, decreased urine osmolality, and reduced glomerular filtration rate.	Metabolism of Angiotensinogen to Angiotensins	GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEA|GO:0002003;angiotensin maturation;TAS|GO:0002016;regulation of blood volume by renin-angiotensin;IEA|GO:0002018;renin-angiotensin regulation of aldosterone production;IEA|GO:0006508;proteolysis;IDA|GO:0008217;regulation of blood pressure;TAS|GO:0008584;male gonad development;IEA|GO:0009755;hormone-mediated signaling pathway;IEA|GO:0010033;response to organic substance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035690;cellular response to drug;IEA|GO:0035902;response to immobilization stress;IEA|GO:0042493;response to drug;IEA|GO:0042756;drinking behavior;IEA|GO:0043408;regulation of MAPK cascade;IDA|GO:0048469;cell maturation;IEA|GO:0050435;beta-amyloid metabolic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070305;response to cGMP;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0004175;endopeptidase activity;IEA|GO:0004190;aspartic-type endopeptidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005159;insulin-like growth factor receptor binding;IEA|GO:0008233;peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/REN	https://www.uniprot.org/uniprot/P00797	https://hpo.jax.org/app/browse/search?q=REN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179820	http://www.informatics.jax.org/searchtool/Search.do?query=REN&submit=Quick%0D%8521ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=REN	rs5707	0.28115	0.2464	0.2531	1	0	0	intronic	intronic	intronic	REN	REN	ENSG00000143839	Na	Na	Na	Na	Na	Na	Het;A>C	763;70|38	Hom;A>C	1787;1|64
N	N	-	1	204159611	204159612	CT	C	indel	frameshift substitution	417_418G	 	 	 	KISS1	Kiss1	ENSG00000170498	KiSS-1 metastasis-suppressor	chr1:204159469-204165614	This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]	breast cancer ; Tobacco Use Disorder; precocious puberty; Hypertension; Puberty, Precocious; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hypogonadism|Puberty, Precocious; Hypogonadism|Kallmann Syndrome	Homozygote null mice are infertile with abnormal sexual maturation associated with hypogonadotropism	G alpha (q) signalling events	GO:0007010;cytoskeleton organization;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0033686;positive regulation of luteinizing hormone secretion;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0046697;decidualization;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IEA|GO:0060112;generation of ovulation cycle rhythm;IEA|GO:0060124;positive regulation of growth hormone secretion;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA	GO:0005515;protein binding;IPI|GO:0031773;kisspeptin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KISS1		https://hpo.jax.org/app/browse/search?q=KISS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603286	http://www.informatics.jax.org/searchtool/Search.do?query=KISS1&submit=Quick%0D%12722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KISS1	rs71745629	0.221845	0.1672	0.2983	1	0	0	exonic	exonic	exonic	KISS1	KISS1	ENSG00000170498	frameshift substitution	frameshift substitution	unknown	KISS1:NM_002256:exon3:c.417_418G,	KISS1:uc001har.3:exon3:c.417_418G,	UNKNOWN	Het;-T	209;10|8	Hom;-T	357;0|10
N	N	-	1	204159787	204159787	G	C	snp	nonsynonymous SNV	C242G	P81R	hydrophobic,neutral	polar,hydrophilic,charged(+)	KISS1	Kiss1	ENSG00000170498	KiSS-1 metastasis-suppressor	chr1:204159469-204165614	This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]	breast cancer ; Tobacco Use Disorder; precocious puberty; Hypertension; Puberty, Precocious; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hypogonadism|Puberty, Precocious; Hypogonadism|Kallmann Syndrome	Homozygote null mice are infertile with abnormal sexual maturation associated with hypogonadotropism	G alpha (q) signalling events	GO:0007010;cytoskeleton organization;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0033686;positive regulation of luteinizing hormone secretion;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0046697;decidualization;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IEA|GO:0060112;generation of ovulation cycle rhythm;IEA|GO:0060124;positive regulation of growth hormone secretion;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA	GO:0005515;protein binding;IPI|GO:0031773;kisspeptin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KISS1		https://hpo.jax.org/app/browse/search?q=KISS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603286	http://www.informatics.jax.org/searchtool/Search.do?query=KISS1&submit=Quick%0D%12722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KISS1	rs4889	0.329872	0.2090	0.3413	0.23	3	13	exonic	exonic	exonic	KISS1	KISS1	ENSG00000170498	nonsynonymous SNV	nonsynonymous SNV	unknown	KISS1:NM_002256:exon3:c.C242G:p.P81R,	KISS1:uc001har.3:exon3:c.C242G:p.P81R,	UNKNOWN	Het;G>C	881;52|43	Hom;G>C	2036;0|77
N	N	-	1	204327894	204327894	G	A	snp	intronic	 	 	 	 	PLEKHA6	Plekha6	ENSG00000143850	pleckstrin homology domain containing A6	chr1:204187979-204346793		Hypertension; Tobacco Use Disorder	 	Synthesis of PIPs at the plasma membrane				http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA6	https://www.uniprot.org/uniprot/Q9Y2H5		https://www.ncbi.nlm.nih.gov/omim/?term=607771	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA6&submit=Quick%0D%8525ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA6	rs10900583	0.406749	0	0	1	0	0	intronic	intronic	intronic	PLEKHA6	PLEKHA6	ENSG00000143850	Na	Na	Na	Na	Na	Na	Het;G>A	113;4|6	Hom;G>A	94;0|4
N	N	-	1	204403659	204403659	A	G	snp	synonymous SNV	T3510C	N1170N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PIK3C2B	Pik3c2b	ENSG00000133056	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta	chr1:204391756-204463852	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]	prostate cancer; Cholesterol, LDL; Subcutaneous Fat; Abdominal Fat; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; Body Weights and Measures; Hypercholesterolemia|LDLC levels; Echocardiography; BMI- Edema rosiglitazone or pioglitazone; Tobacco Use Disorder; Hypertension	Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function.	Synthesis of PIPs at the plasma membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008150;biological_process;ND|GO:0009267;cellular response to starvation;IEA|GO:0016236;macroautophagy;IEA|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043491;protein kinase B signaling;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:1905037;autophagosome organization;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001727;lipid kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IBA|GO:0016740;transferase activity;IEA|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2B	https://www.uniprot.org/uniprot/O00750		https://www.ncbi.nlm.nih.gov/omim/?term=602838	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2B&submit=Quick%0D%6785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2B	rs3747636	0.404952	0.3060	0.3009	1	0	0	exonic	exonic	exonic	PIK3C2B	PIK3C2B	ENSG00000133056	synonymous SNV	synonymous SNV	unknown	PIK3C2B:NM_002646:exon25:c.T3594C:p.N1198N,	PIK3C2B:uc010pqv.2:exon26:c.T3510C:p.N1170N,PIK3C2B:uc001haw.3:exon25:c.T3594C:p.N1198N,	UNKNOWN	Het;A>G	518;48|30	Hom;A>G	1522;0|57
N	N	-	1	204416501	204416501	C	T	snp	intronic	 	 	 	 	PIK3C2B	Pik3c2b	ENSG00000133056	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta	chr1:204391756-204463852	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]	prostate cancer; Cholesterol, LDL; Subcutaneous Fat; Abdominal Fat; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; Body Weights and Measures; Hypercholesterolemia|LDLC levels; Echocardiography; BMI- Edema rosiglitazone or pioglitazone; Tobacco Use Disorder; Hypertension	Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function.	Synthesis of PIPs at the plasma membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008150;biological_process;ND|GO:0009267;cellular response to starvation;IEA|GO:0016236;macroautophagy;IEA|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043491;protein kinase B signaling;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:1905037;autophagosome organization;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001727;lipid kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IBA|GO:0016740;transferase activity;IEA|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2B	https://www.uniprot.org/uniprot/O00750		https://www.ncbi.nlm.nih.gov/omim/?term=602838	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2B&submit=Quick%0D%6785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2B	rs3827534	0.245407	0	0	1	0	0	intronic	intronic	intronic	PIK3C2B	PIK3C2B	ENSG00000133056	Na	Na	Na	Na	Na	Na	Het;C>T	33;5|3	Hom;C>T	492;2|21
N	N	-	1	20442054	20442054	T	C	snp	nonsynonymous SNV	A238G	S80G	polar,hydrophilic,neutral	aliphatic,neutral	PLA2G2D	Pla2g2d	ENSG00000117215	phospholipase A2 group IID	chr1:20438432-20446050	This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]	weight loss; HIV; bipolar disorder; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit impaired resolution of hapten-induced contact hypersensitivity.	Synthesis of PA	GO:0002361;CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006954;inflammatory response;TAS|GO:0016042;lipid catabolic process;IEA|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0050482;arachidonic acid secretion;IEA|GO:0050868;negative regulation of T cell activation;IEA	GO:0005576;extracellular region;TAS	GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G2D	https://www.uniprot.org/uniprot/Q9UNK4		https://www.ncbi.nlm.nih.gov/omim/?term=605630	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G2D&submit=Quick%0D%4849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G2D	rs584367	0.769369	0.6909	0.6607	0.08	1	13	exonic	exonic	exonic	PLA2G2D	PLA2G2D	ENSG00000117215	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	PLA2G2D:NM_012400:exon3:c.A238G:p.S80G,	PLA2G2D:uc001bcz.4:exon3:c.A238G:p.S80G,	ENSG00000117215:ENST00000375105:exon3:c.A238G:p.S80G,	Het;T>C	738;48|39	Hom;T>C	1690;0|62
N	N	-	1	204425028	204425028	G	A	snp	synonymous SNV	C1899T	F633F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	PIK3C2B	Pik3c2b	ENSG00000133056	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta	chr1:204391756-204463852	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]	prostate cancer; Cholesterol, LDL; Subcutaneous Fat; Abdominal Fat; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; Body Weights and Measures; Hypercholesterolemia|LDLC levels; Echocardiography; BMI- Edema rosiglitazone or pioglitazone; Tobacco Use Disorder; Hypertension	Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function.	Synthesis of PIPs at the plasma membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008150;biological_process;ND|GO:0009267;cellular response to starvation;IEA|GO:0016236;macroautophagy;IEA|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043491;protein kinase B signaling;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:1905037;autophagosome organization;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001727;lipid kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IBA|GO:0016740;transferase activity;IEA|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2B	https://www.uniprot.org/uniprot/O00750		https://www.ncbi.nlm.nih.gov/omim/?term=602838	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2B&submit=Quick%0D%6785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2B	rs3765156	0.203275	0.1389	0.1914	1	0	0	exonic	exonic	exonic	PIK3C2B	PIK3C2B	ENSG00000133056	synonymous SNV	synonymous SNV	unknown	PIK3C2B:NM_002646:exon12:c.C1899T:p.F633F,	PIK3C2B:uc010pqv.2:exon12:c.C1899T:p.F633F,PIK3C2B:uc001haw.3:exon12:c.C1899T:p.F633F,PIK3C2B:uc001hax.1:exon11:c.C1899T:p.F633F,	UNKNOWN	Het;G>A	1303;86|68	Hom;G>A	2942;0|113
N	N	-	1	20442691	20442691	C	T	snp	intronic	 	 	 	 	PLA2G2D	Pla2g2d	ENSG00000117215	phospholipase A2 group IID	chr1:20438432-20446050	This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]	weight loss; HIV; bipolar disorder; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit impaired resolution of hapten-induced contact hypersensitivity.	Synthesis of PA	GO:0002361;CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006954;inflammatory response;TAS|GO:0016042;lipid catabolic process;IEA|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0050482;arachidonic acid secretion;IEA|GO:0050868;negative regulation of T cell activation;IEA	GO:0005576;extracellular region;TAS	GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G2D	https://www.uniprot.org/uniprot/Q9UNK4		https://www.ncbi.nlm.nih.gov/omim/?term=605630	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G2D&submit=Quick%0D%4849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G2D	rs3736979	0.451078	0	0	1	0	0	intronic	intronic	intronic	PLA2G2D	PLA2G2D	ENSG00000117215	Na	Na	Na	Na	Na	Na	Het;C>T	84;1|4	Hom;C>T	111;0|4
N	N	-	1	204434325	204434325	C	CCT	indel	intronic	 	 	 	 	PIK3C2B	Pik3c2b	ENSG00000133056	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta	chr1:204391756-204463852	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]	prostate cancer; Cholesterol, LDL; Subcutaneous Fat; Abdominal Fat; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; Body Weights and Measures; Hypercholesterolemia|LDLC levels; Echocardiography; BMI- Edema rosiglitazone or pioglitazone; Tobacco Use Disorder; Hypertension	Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function.	Synthesis of PIPs at the plasma membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008150;biological_process;ND|GO:0009267;cellular response to starvation;IEA|GO:0016236;macroautophagy;IEA|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043491;protein kinase B signaling;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:1905037;autophagosome organization;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001727;lipid kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IBA|GO:0016740;transferase activity;IEA|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2B	https://www.uniprot.org/uniprot/O00750		https://www.ncbi.nlm.nih.gov/omim/?term=602838	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2B&submit=Quick%0D%6785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2B	rs58247897	0.341653	0.2309	0.2543	1	0	0	intronic	intronic	intronic	PIK3C2B	PIK3C2B	ENSG00000133056	Na	Na	Na	Na	Na	Na	Het;+CT	157;15|5	Hom;+CT	197;0|5
N	N	-	1	204434326	204434326	A	G	snp	intronic	 	 	 	 	PIK3C2B	Pik3c2b	ENSG00000133056	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta	chr1:204391756-204463852	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]	prostate cancer; Cholesterol, LDL; Subcutaneous Fat; Abdominal Fat; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; Body Weights and Measures; Hypercholesterolemia|LDLC levels; Echocardiography; BMI- Edema rosiglitazone or pioglitazone; Tobacco Use Disorder; Hypertension	Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function.	Synthesis of PIPs at the plasma membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008150;biological_process;ND|GO:0009267;cellular response to starvation;IEA|GO:0016236;macroautophagy;IEA|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043491;protein kinase B signaling;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:1905037;autophagosome organization;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001727;lipid kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;IBA|GO:0016740;transferase activity;IEA|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2B	https://www.uniprot.org/uniprot/O00750		https://www.ncbi.nlm.nih.gov/omim/?term=602838	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2B&submit=Quick%0D%6785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2B	rs17847779	0.341653	0	0.2544	1	0	0	intronic	intronic	intronic	PIK3C2B	PIK3C2B	ENSG00000133056	Na	Na	Na	Na	Na	Na	Het;A>G	166;16|6	Hom;A>G	206;0|6
N	N	-	1	204497913	204497913	G	C	snp	intronic	 	 	 	 	MDM4	Mdm4	ENSG00000198625	MDM4, p53 regulator	chr1:204485511-204542871	This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]	Cognitive performance; Narcolepsy; Neoplasms; prostate cancer; fertility; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; breast cancer ; breast cancer; Psychomotor Performance; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit embryonic lethality, decreased cellular proliferation, and abnormal nervous system development.	Stabilization of p53	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006461;protein complex assembly;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0008283;cell proliferation;IEP|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IEP|GO:0042177;negative regulation of protein catabolic process;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045023;G0 to G1 transition;IEP|GO:0050821;protein stabilization;IEP|GO:0071157;negative regulation of cell cycle arrest;IEA|GO:0071456;cellular response to hypoxia;IEP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MDM4			https://www.ncbi.nlm.nih.gov/omim/?term=602704	http://www.informatics.jax.org/searchtool/Search.do?query=MDM4&submit=Quick%0D%16944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MDM4	rs2169137	0.79353	0	0	1	0	0	intronic	intronic	intronic	MDM4	MDM4	ENSG00000198625	Na	Na	Na	Na	Na	Na	Het;G>C	953;32|40	Hom;G>C	1801;0|63
N	N	-	1	204518842	204518842	C	A	snp	UTR3	*32C>A	 	 	 	MDM4	Mdm4	ENSG00000198625	MDM4, p53 regulator	chr1:204485511-204542871	This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]	Cognitive performance; Narcolepsy; Neoplasms; prostate cancer; fertility; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; breast cancer ; breast cancer; Psychomotor Performance; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit embryonic lethality, decreased cellular proliferation, and abnormal nervous system development.	Stabilization of p53	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006461;protein complex assembly;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0008283;cell proliferation;IEP|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IEP|GO:0042177;negative regulation of protein catabolic process;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045023;G0 to G1 transition;IEP|GO:0050821;protein stabilization;IEP|GO:0071157;negative regulation of cell cycle arrest;IEA|GO:0071456;cellular response to hypoxia;IEP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MDM4			https://www.ncbi.nlm.nih.gov/omim/?term=602704	http://www.informatics.jax.org/searchtool/Search.do?query=MDM4&submit=Quick%0D%16944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MDM4	rs4245739	0.785942	0.7678	0.7694	1	0	0	UTR3	UTR3	UTR3	MDM4(NM_001204172:c.*32C>A,NM_001204171:c.*32C>A,NM_001278517:c.*32C>A,NM_001278518:c.*675C>A,NM_002393:c.*32C>A,NM_001278519:c.*32C>A,NM_001278516:c.*1014C>A)	MDM4(uc010pqx.2:c.*32C>A,uc001hba.3:c.*32C>A,uc001hay.2:c.*32C>A,uc021phx.1:c.*32C>A,uc001hbb.3:c.*32C>A)	ENSG00000198625(ENST00000367182:c.*32C>A,ENST00000454264:c.*32C>A,ENST00000367183:c.*32C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	543;39|25	Hom;C>A	1485;0|50
N	N	-	1	204639134	204639134	G	T	snp	intronic	 	 	 	 	LRRN2	Lrrn2	ENSG00000170382	leucine rich repeat neuronal 2	chr1:204586298-204654861	The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Cholesterol, LDL	Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls.		GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0007409;axonogenesis;IBA	GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LRRN2			https://www.ncbi.nlm.nih.gov/omim/?term=605492	http://www.informatics.jax.org/searchtool/Search.do?query=LRRN2&submit=Quick%0D%12692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRN2	rs35957208	0.900559	0	0	1	0	0	intronic	intronic	intronic	LRRN2	LRRN2	ENSG00000170382	Na	Na	Na	Na	Na	Na	Het;G>T	2241;19|105	Hom;G>T	1513;7|70
N	N	-	1	205038731	205038731	C	T	snp	intronic	 	 	 	 	CNTN2	Cntn2	ENSG00000184144	contactin 2	chr1:205012325-205047627	This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]	Stroke; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Waist Circumference; several psychiatric disorders	Targeted mutation of this locus results in molecular abnormalities in the central nervous system.	NrCAM interactions	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0001764;neuron migration;IEA|GO:0007155;cell adhesion;NAS|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007612;learning;IEA|GO:0007628;adult walking behavior;IEA|GO:0010769;regulation of cell morphogenesis involved in differentiation;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0021853;cerebral cortex GABAergic interneuron migration;IEA|GO:0022010;central nervous system myelination;IEA|GO:0031133;regulation of axon diameter;IEA|GO:0031175;neuron projection development;IEA|GO:0031623;receptor internalization;IEA|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048710;regulation of astrocyte differentiation;IEA|GO:0060168;positive regulation of adenosine receptor signaling pathway;IEA|GO:0071205;protein localization to juxtaparanode region of axon;ISS|GO:0071206;establishment of protein localization to juxtaparanode region of axon;IEA|GO:0097090;presynaptic membrane organization;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0031225;anchored component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;ISS|GO:0044224;juxtaparanode region of axon;ISS|GO:0045202;synapse;ISS	GO:0001948;glycoprotein binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;TAS|GO:0043621;protein self-association;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNTN2		https://hpo.jax.org/app/browse/search?q=CNTN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190197	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN2&submit=Quick%0D%15138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN2	rs2305275	0.579473	0.6445	0.6556	1	0	0	intronic	intronic	intronic	CNTN2	CNTN2	ENSG00000184144	Na	Na	Na	Na	Na	Na	Het;C>T	621;16|26	Hom;C>T	488;0|18
N	N	-	1	205041015	205041015	G	A	snp	intronic	 	 	 	 	CNTN2	Cntn2	ENSG00000184144	contactin 2	chr1:205012325-205047627	This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]	Stroke; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Waist Circumference; several psychiatric disorders	Targeted mutation of this locus results in molecular abnormalities in the central nervous system.	NrCAM interactions	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0001764;neuron migration;IEA|GO:0007155;cell adhesion;NAS|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007612;learning;IEA|GO:0007628;adult walking behavior;IEA|GO:0010769;regulation of cell morphogenesis involved in differentiation;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0021853;cerebral cortex GABAergic interneuron migration;IEA|GO:0022010;central nervous system myelination;IEA|GO:0031133;regulation of axon diameter;IEA|GO:0031175;neuron projection development;IEA|GO:0031623;receptor internalization;IEA|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048710;regulation of astrocyte differentiation;IEA|GO:0060168;positive regulation of adenosine receptor signaling pathway;IEA|GO:0071205;protein localization to juxtaparanode region of axon;ISS|GO:0071206;establishment of protein localization to juxtaparanode region of axon;IEA|GO:0097090;presynaptic membrane organization;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0031225;anchored component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;ISS|GO:0044224;juxtaparanode region of axon;ISS|GO:0045202;synapse;ISS	GO:0001948;glycoprotein binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;TAS|GO:0043621;protein self-association;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNTN2		https://hpo.jax.org/app/browse/search?q=CNTN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190197	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN2&submit=Quick%0D%15138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN2	rs11240349	0.186901	0	0	1	0	0	intronic	intronic	intronic	CNTN2	CNTN2	ENSG00000184144	Na	Na	Na	Na	Na	Na	Het;G>A	104;21|6	Hom;G>A	374;0|13
N	N	-	1	205043250	205043250	G	C	snp	UTR3	*357G>C	 	 	 	CNTN2	Cntn2	ENSG00000184144	contactin 2	chr1:205012325-205047627	This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]	Stroke; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Waist Circumference; several psychiatric disorders	Targeted mutation of this locus results in molecular abnormalities in the central nervous system.	NrCAM interactions	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0001764;neuron migration;IEA|GO:0007155;cell adhesion;NAS|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007612;learning;IEA|GO:0007628;adult walking behavior;IEA|GO:0010769;regulation of cell morphogenesis involved in differentiation;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0021853;cerebral cortex GABAergic interneuron migration;IEA|GO:0022010;central nervous system myelination;IEA|GO:0031133;regulation of axon diameter;IEA|GO:0031175;neuron projection development;IEA|GO:0031623;receptor internalization;IEA|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048710;regulation of astrocyte differentiation;IEA|GO:0060168;positive regulation of adenosine receptor signaling pathway;IEA|GO:0071205;protein localization to juxtaparanode region of axon;ISS|GO:0071206;establishment of protein localization to juxtaparanode region of axon;IEA|GO:0097090;presynaptic membrane organization;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0031225;anchored component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;ISS|GO:0044224;juxtaparanode region of axon;ISS|GO:0045202;synapse;ISS	GO:0001948;glycoprotein binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;TAS|GO:0043621;protein self-association;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNTN2		https://hpo.jax.org/app/browse/search?q=CNTN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190197	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN2&submit=Quick%0D%15138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN2	rs1042831	0.198882	0	0	1	0	0	UTR3	UTR3	UTR3	CNTN2(NM_005076:c.*357G>C)	CNTN2(uc001hbr.3:c.*357G>C,uc001hbs.3:c.*357G>C)	ENSG00000184144(ENST00000331830:c.*357G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	2032;70|84	Hom;G>C	4408;0|147
N	N	-	1	205290794	205290794	G	A	snp	nonsynonymous SNV	C95T	T32I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	NUAK2	Nuak2	ENSG00000163545	NUAK family kinase 2	chr1:205271187-205290883			Most homozygous null mice are exencephalic and die at E16.5 while survivors show a higher number of azoxymethane (AOM)-induced aberrant crypt foci (ACF) in colon. Heterozygotes show increased susceptibility to AOM-induced ACF formation and colon tumors, mature-onset obesity and metabolic disorders.		GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035556;intracellular signal transduction;IBA|GO:0042149;cellular response to glucose starvation;IDA|GO:0043066;negative regulation of apoptotic process;IDA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608131	http://www.informatics.jax.org/searchtool/Search.do?query=NUAK2&submit=Quick%0D%11006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUAK2	rs3738746	0.289936	0.3625	0.3255	1	0	0	exonic	UTR5	UTR5	NUAK2	NUAK2(uc001hce.3:c.-38C>T)	ENSG00000163545(ENST00000367157:c.-38C>T)	nonsynonymous SNV	Na	Na	NUAK2:NM_030952:exon1:c.C95T:p.T32I,	Na	Na	Het;G>A	948;54|48	Hom;G>A	2418;0|95
N	N	-	1	205308335	205308335	G	A	snp	synonymous SNV	C744T	F248F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	KLHDC8A	Klhdc8a	ENSG00000162873	kelch domain containing 8A	chr1:205305220-205326218	This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHDC8A			https://www.ncbi.nlm.nih.gov/omim/?term=614503	http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC8A&submit=Quick%0D%10817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC8A	rs1105385	0.183307	0.2768	0.2516	1	0	0	exonic	exonic	exonic	KLHDC8A	KLHDC8A	ENSG00000162873	synonymous SNV	synonymous SNV	unknown	KLHDC8A:NM_018203:exon4:c.C744T:p.F248F,KLHDC8A:NM_001271863:exon7:c.C744T:p.F248F,KLHDC8A:NM_001271864:exon5:c.C744T:p.F248F,KLHDC8A:NM_001271865:exon6:c.C744T:p.F248F,	KLHDC8A:uc031prx.1:exon5:c.C744T:p.F248F,KLHDC8A:uc001hcg.2:exon7:c.C744T:p.F248F,KLHDC8A:uc010prg.2:exon3:c.C342T:p.F114F,KLHDC8A:uc031prw.1:exon6:c.C744T:p.F248F,KLHDC8A:uc001hcf.2:exon4:c.C744T:p.F248F,	UNKNOWN	Het;G>A	1325;48|62	Hom;G>A	2669;2|100
N	N	-	1	205308368	205308368	C	T	snp	synonymous SNV	G711A	R237R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	KLHDC8A	Klhdc8a	ENSG00000162873	kelch domain containing 8A	chr1:205305220-205326218	This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHDC8A			https://www.ncbi.nlm.nih.gov/omim/?term=614503	http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC8A&submit=Quick%0D%10817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC8A	rs1105387	0.180112	0.2723	0.2448	1	0	0	exonic	exonic	exonic	KLHDC8A	KLHDC8A	ENSG00000162873	synonymous SNV	synonymous SNV	unknown	KLHDC8A:NM_018203:exon4:c.G711A:p.R237R,KLHDC8A:NM_001271863:exon7:c.G711A:p.R237R,KLHDC8A:NM_001271864:exon5:c.G711A:p.R237R,KLHDC8A:NM_001271865:exon6:c.G711A:p.R237R,	KLHDC8A:uc031prx.1:exon5:c.G711A:p.R237R,KLHDC8A:uc001hcg.2:exon7:c.G711A:p.R237R,KLHDC8A:uc010prg.2:exon3:c.G309A:p.R103R,KLHDC8A:uc031prw.1:exon6:c.G711A:p.R237R,KLHDC8A:uc001hcf.2:exon4:c.G711A:p.R237R,	UNKNOWN	Het;C>T	1779;75|87	Hom;C>T	3503;2|136
N	N	-	1	205308591	205308591	C	T	snp	intronic	 	 	 	 	KLHDC8A	Klhdc8a	ENSG00000162873	kelch domain containing 8A	chr1:205305220-205326218	This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHDC8A			https://www.ncbi.nlm.nih.gov/omim/?term=614503	http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC8A&submit=Quick%0D%10817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC8A	rs1105388	0.183906	0	0	1	0	0	intronic	intronic	intronic	KLHDC8A	KLHDC8A	ENSG00000162873	Na	Na	Na	Na	Na	Na	Het;C>T	192;13|8	Hom;C>T	438;0|15
N	N	-	1	205554085	205554085	G	C	snp	nonsynonymous SNV	G941C	G314A	aliphatic,neutral	aliphatic,hydrophobic,neutral	MFSD4	 																	rs7526132	0.425919	0.5382	0.4449	0.31	4	13	exonic	exonic	exonic	MFSD4	MFSD4	ENSG00000174514	nonsynonymous SNV	nonsynonymous SNV	unknown	MFSD4:NM_181644:exon5:c.G941C:p.G314A,	MFSD4:uc010prk.2:exon4:c.G680C:p.G227A,MFSD4:uc010prm.2:exon4:c.G776C:p.G259A,MFSD4:uc001hcv.4:exon5:c.G941C:p.G314A,	UNKNOWN	Het;G>C	3286;84|86	Hom;G>C	6553;2|151
N	N	-	1	205554095	205554095	A	C	snp	synonymous SNV	A690C	V230V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MFSD4	 																	rs7515820	0.359824	0.4929	0.4204	1	0	0	exonic	exonic	exonic	MFSD4	MFSD4	ENSG00000174514	synonymous SNV	synonymous SNV	unknown	MFSD4:NM_181644:exon5:c.A951C:p.V317V,	MFSD4:uc010prk.2:exon4:c.A690C:p.V230V,MFSD4:uc010prm.2:exon4:c.A786C:p.V262V,MFSD4:uc001hcv.4:exon5:c.A951C:p.V317V,	UNKNOWN	Het;A>C	3197;88|85	Hom;A>C	6621;2|158
N	N	-	1	205764640	205764640	G	A	snp	UTR5	-99C>T	 	 	 	SLC41A1	Slc41a1	ENSG00000133065	solute carrier family 41 member 1	chr1:205758221-205782876		Parkinson Disease; Parkinson's disease	 	Metal ion SLC transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0010961;cellular magnesium ion homeostasis;IMP|GO:0015693;magnesium ion transport;IDA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0070838;divalent metal ion transport;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:1903830;magnesium ion transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0043234;protein complex;IDA	GO:0008324;cation transmembrane transporter activity;IEA|GO:0015095;magnesium ion transmembrane transporter activity;TAS|GO:0022892;substrate-specific transporter activity;IDA|GO:0061768;magnesium:sodium antiporter activity;IMP|GO:0072509;divalent inorganic cation transmembrane transporter activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC41A1	https://www.uniprot.org/uniprot/Q8IVJ1		https://www.ncbi.nlm.nih.gov/omim/?term=610801	http://www.informatics.jax.org/searchtool/Search.do?query=SLC41A1&submit=Quick%0D%6788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC41A1	rs823156	0.649161	0.6841	0.7681	1	0	0	intronic	UTR5	intronic	SLC41A1	SLC41A1(uc001hdg.1:c.-99C>T)	ENSG00000133065	Na	Na	Na	Na	Na	Na	Het;G>A	1336;87|64	Hom;G>A	3529;2|133
N	N	-	1	205766159	205766160	CA	C	indel	intronic	 	 	 	 	SLC41A1	Slc41a1	ENSG00000133065	solute carrier family 41 member 1	chr1:205758221-205782876		Parkinson Disease; Parkinson's disease	 	Metal ion SLC transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0010961;cellular magnesium ion homeostasis;IMP|GO:0015693;magnesium ion transport;IDA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0070838;divalent metal ion transport;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:1903830;magnesium ion transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0043234;protein complex;IDA	GO:0008324;cation transmembrane transporter activity;IEA|GO:0015095;magnesium ion transmembrane transporter activity;TAS|GO:0022892;substrate-specific transporter activity;IDA|GO:0061768;magnesium:sodium antiporter activity;IMP|GO:0072509;divalent inorganic cation transmembrane transporter activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC41A1	https://www.uniprot.org/uniprot/Q8IVJ1		https://www.ncbi.nlm.nih.gov/omim/?term=610801	http://www.informatics.jax.org/searchtool/Search.do?query=SLC41A1&submit=Quick%0D%6788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC41A1	rs397982731	0.723842	0.7905	0.8381	1	0	0	intronic	intronic	intronic	SLC41A1	SLC41A1	ENSG00000133065	Na	Na	Na	Na	Na	Na	Het;-A	155;23|8	Hom;-A	463;0|14
N	N	-	1	205797413	205797413	G	T	snp	UTR3	*335C>A	 	 	 	PM20D1	Pm20d1	ENSG00000162877	peptidase M20 domain containing 1	chr1:205797150-205819260		Parkinson's disease; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006508;proteolysis;IEA|GO:0006520;cellular amino acid metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0043604;amide biosynthetic process;IDA|GO:0043605;cellular amide catabolic process;IDA|GO:0044255;cellular lipid metabolic process;IDA|GO:0097009;energy homeostasis;IEA|GO:1901215;negative regulation of neuron death;IMP|GO:1990845;adaptive thermogenesis;IEA|GO:2000275;regulation of oxidative phosphorylation uncoupler activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA	GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PM20D1			https://www.ncbi.nlm.nih.gov/omim/?term=617124	http://www.informatics.jax.org/searchtool/Search.do?query=PM20D1&submit=Quick%0D%10818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PM20D1	rs823086	0.487819	0	0	1	0	0	UTR3	UTR3	UTR3	PM20D1(NM_152491:c.*335C>A)	PM20D1(uc001hdj.3:c.*335C>A)	ENSG00000162877(ENST00000367136:c.*335C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1565;76|73	Hom;G>T	3587;0|128
N	N	-	1	205814497	205814497	T	C	snp	nonsynonymous SNV	A445G	I149V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PM20D1	Pm20d1	ENSG00000162877	peptidase M20 domain containing 1	chr1:205797150-205819260		Parkinson's disease; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006508;proteolysis;IEA|GO:0006520;cellular amino acid metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0043604;amide biosynthetic process;IDA|GO:0043605;cellular amide catabolic process;IDA|GO:0044255;cellular lipid metabolic process;IDA|GO:0097009;energy homeostasis;IEA|GO:1901215;negative regulation of neuron death;IMP|GO:1990845;adaptive thermogenesis;IEA|GO:2000275;regulation of oxidative phosphorylation uncoupler activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA	GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PM20D1			https://www.ncbi.nlm.nih.gov/omim/?term=617124	http://www.informatics.jax.org/searchtool/Search.do?query=PM20D1&submit=Quick%0D%10818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PM20D1	rs1891460	0.838458	0.9250	0.8833	0.23	3	13	exonic	exonic	exonic	PM20D1	PM20D1	ENSG00000162877	nonsynonymous SNV	nonsynonymous SNV	unknown	PM20D1:NM_152491:exon3:c.A445G:p.I149V,	PM20D1:uc001hdj.3:exon3:c.A445G:p.I149V,	UNKNOWN	Het;T>C	1049;65|46	Hom;T>C	2833;0|108
N	N	-	1	206758077	206758077	T	A	snp	nonsynonymous SNV	T1049A	L350H	aliphatic,hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	RASSF5	Rassf5	ENSG00000266094	Ras association domain family member 5	chr1:206680879-206762616	This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	smoking cessation; breast cancer; Tobacco Use Disorder	Homozygotes for a null allele have defects in lymphocyte homing to lymphoid tissues, B cell maturation and dendritic cell function, and display lymphocyte hyperproliferation leading to lupus glomerulonephritis and lymphomas. Homozygotes for another null allele are resistant to TNF-induced apoptosis.		GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0031398;positive regulation of protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:1900180;regulation of protein localization to nucleus;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA	GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASSF5			https://www.ncbi.nlm.nih.gov/omim/?term=607020	http://www.informatics.jax.org/searchtool/Search.do?query=RASSF5&submit=Quick%0D%20616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASSF5	rs4418597	0.727436	0	0.7986	1	0	0	intronic	exonic	intronic	RASSF5	RASSF5	ENSG00000136653	Na	nonsynonymous SNV	Na	Na	RASSF5:uc001hec.1:exon4:c.T1049A:p.L350H,	Na	Het;T>A	706;23|31	Hom;T>A	1587;0|62
N	N	-	1	206941864	206941864	A	G	snp	UTR3	*117T>C	 	 	 	IL10	Il10	ENSG00000136634	interleukin 10	chr1:206940947-206945839	The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011]	allograft outcome; asthma; eczema; allergic disease; acute and chronic kidney transplant outcome; aging; Helicobacter Infections|Stomach Neoplasms; respiratory syncytial virus bronchiolitis; bacterial vaginosis; C-reactive protein myocardial infarct; Hepatitis C|Pregnancy Complications, Infectious; chronic obstructive pulmonary disease; Heart Failure, Diastolic|Inflammation|Kidney Failure, Chronic; chronic lymphocytic leukaemia; Multiple Sclerosis; Aggressive Periodontitis|Periodontitis, Juvenile; Respiratory Tract Infections; Autoimmune Diseases|Pelvic Pain|Prostatitis|Syndrome; Cardiovascular Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Aspergillosis|Lung Diseases, Fungal; Gastritis|Helicobacter Infections|Lymphoma, B-Cell, Marginal Zone|Metaplasia|Stomach Neoplasms; BILIARY CIRRHOSIS|Hepatitis, Autoimmune|Liver Cirrhosis, Biliary; Lymphoma; psoriasis psoriatic arthritis; cholesterol cholesterol, HDL cholesterol, LDL cholesterol, VLDL lipoprotein triglycerides; hemophilia; periodontitis; Critical Illness|Sepsis; Lymphoma, Non-Hodgkin|Neoplasm Invasiveness; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Cerebrovascular Disorders; Helicobacter Infections|Peptic Ulcer; Infection|Postoperative Complications; celiac disease; asthma; candidiasis; high-altitude illness; tacrolimus pharmacokinetics; Graft vs Host Disease; knee osteoarthritis; Alcoholism|Liver Diseases, Alcoholic; Abortion, Habitual; Carcinoma|Colorectal Neoplasms; Myocardial Infarction; Choroidal Neovascularization|Macular Degeneration; Psoriasis; renal transplantation, protein secretion in; allograft rejection, heart; heart transplant; testicular cancer; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; atherosclerosis, coronary; cardiovascular disease; periodontal disease; HTLV-1 infection; hepatitis C virus infection.; increased development of adult T-cell leukemia/lymphoma; Periodontitis; Lymphoma, Non-Hodgkin; Hepatitis B|Liver Failure, Acute; obesity|Type 2 diabetes; Hyperparathyroidism, Secondary; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Pulmonary Disease, Chronic Obstructive; H. pylori infection; Asthma; hepatitis C infection; gene polymorphism coding for increased IL-10 production; Scleroderma, Systemic; diabetes, type 2; Premature Birth|Uterine Cervical Incompetence; biliary atresia; parvovirus B19 infection; reactive arthritis; Inflammation|Venous Thromboembolism; Focal segmental glomsclerosis|Glomerulonephritis, IGA|Glomerulosclerosis, Focal Segmental|IGA Glomerulonephritides; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Hodgkin Disease|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; Inflammation; Pemphigus; asthma; lipids; C-reactive protein; obesity; glucose; leptin; atopy; graft rejection, liver; bone density; osteoporosis; Cardiovascular Diseases|Fever|; Giant Cell Arteritis|Temporal Arteritis; lung cancer; Dermatitis, Atopic|Eczema allergic; allergic rhinitis; prostate cancer; cardiovascular; suppression of induction of contact sensitivity; Cystic Fibrosis|; Alzheimer's disease ; ulcerative colitis; Stomatitis, Aphthous; Autoimmune Diseases|Gastritis; Infection|Kidney Failure, Acute; Scleroderma, Systemic|Systemic Scleroderma; Carcinoma, Renal Cell|Kidney Neoplasms; major trauma; Vitiligo; Bronchiolitis, Viral; Mouth Neoplasms; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Liver Failure; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; meningococcal disease; bullous pemphigoid; inflammatory bowel disease/UC; non-Hodgkin lymphoma; Gastritis, Atrophic|Helicobacter Infections|Metaplasia|Peptic Ulcer; Eclampsia|Pre-Eclampsia; Carcinoma, Squamous Cell|Mouth Neoplasms; Diabetes mellitus|Myocardial Infarction; Carcinoma, Hepatocellular|Hepatitis B|LCC - Liver cell carcinoma; recurrent pregnancy loss; palmoplanta pustulosis; Churg-Strauss Syndrome|Wegener Granulomatosis; preterm birth; Biliary Tract Neoplasms|Inflammation; cervical cancer; Lung Diseases, Interstitial|Scleroderma, Systemic; Infection|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Infection|Sudden Infant Death; Cystic Fibrosis|Pseudomonas Infections; Hepatitis C, Chronic|Schistosomiasis mansoni; Endometriosis|; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; familial early onset psoriasis.; leukopenia neutropenia stomatitis thrombocytopenia; Gallbladder Diseases|; Tuberculosis; cystic fibrosis; breast cancer ; Drug Hypersensitivity; Bronchopulmonary Dysplasia; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Disease Susceptibility|Substance-Related Disorders; Dental Plaque|Periodontitis; Crohn's disease; acute rejection; Parkinson's disease ; Lupus Erythematosus, Systemic; Alveolitis, Extrinsic Allergic|Bird Fancier's Lung|Extrinsic allergic alveolitis; Cardiovascular Diseases; herpes zoster; aortic stenosis; lung cancer ; Boutonneuse Fever|; Bacteremia|Meningococcal Infections; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's|Translocation, Genetic; Diabetes, Gestational|Gestational diabetes mellitus ; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; hepatitis B; hepatitis C; Atopic asthma; hepatitis C, chronic; spontaneous preterm birth; rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders; arthritis; osteoarthritis; mood disorders; major depressive disorder; diabetes, type 1 ; rubella vaccination; Celiac Disease|IgA Deficiency; benzene toxicity; noncardia gastric cancer; heart transplant complications; leukemia; Hypersensitivity; Atherosclerosis|Inflammation|Retinal Vein Occlusion; Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms; eosinophilia; osteosarcoma; Carcinoma, Papillary|Thyroid Neoplasms; Drug-Induced Liver Injury|; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Alcoholic Liver Diseases|Alcoholism|Liver Diseases|Liver Diseases, Alcoholic; Breast Neoplasms|Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell|Lupus Erythematosus, Systemic|Mammary Neoplasms|Systemic lupus erythematosus; Hepatitis B, Chronic|Hepatitis C, Chronic; bone density; liver transplant; Crohn's disease; ulcerative colitis; genetic polymorphisms; increased interleukin-10 (IL-10) plasma levels; Burns|Sepsis|Systemic infection; Fabry Disease; Hepatitis; Uveitis, Anterior; Inflammation|Neoplasms; Helicobacter Infections; Occupational Diseases|Pulmonary Disease, Chronic Obstructive; cardiomyopathy; heart anomalies, congenital; kidney cancer; Alzheimer's Disease; thromboembolism, venous; Cardiovascular Diseases|; Arthritis, Rheumatoid; Cachexia|Esophageal Neoplasms|Stomach Neoplasms; Helicobacter Infections|Metaplasia; Corneal Ulcer|Eye Infections, Bacterial|; Lung Diseases; B-Cell Lymphomas|Hepatitis C, Chronic|Lymphoma, B-Cell; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; Nasopharyngeal Neoplasms; stomach cancer; autoimmune hepatitis; preterm delivery; pregnancy loss; common variable immunodeficiency; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Brain Ischemia|Coronary Artery Disease|Intracranial Arteriosclerosis|Myocardial Infarction|Stroke|Vasculitis; Thromboembolism|Venous Thrombosis; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; pancreatitis; Acquired Immunodeficiency Syndrome|; Leptospirosis|Swamp fever; Aortic Aneurysm, Abdominal|Inflammation|Postoperative Complications; G6PD deficiency; GVHD; uveitis; Pre-Eclampsia; renal transplantation, rejection after; Graft vs Host Disease|Hematologic Neoplasms; tuberculosis tumor necrosis factor-alpha; Multiple Myeloma; gastric disease; Brain Hypoxia|Burns|Hypoxia, Brain|Spinal Cord Injuries; Graft vs Host Disease|Hematologic Neoplasms|Postoperative Complications; Rheumatic Heart Disease; Seizures, Febrile; Arthritis, Rheumatoid|Disease Susceptibility|Rheumatoid Arthritis; graft-versus-host disease; chronic fatigue syndrome; allograft dysfunction, renal; heart failure; Behcet Syndrome|; Sudden Infant Death; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; HIV Infections|HIV Seropositivity|Papillomavirus Infections|[X]Human immunodeficiency virus disease; Chagas Disease; pemphigus; Crohn Disease|; Wegener's granulomatosis; Cerebral Palsy; Duodenal Ulcer|Helicobacter Infections|Stomach Neoplasms|Stomach Ulcer; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; preeclampsia; Clonorchiasis|Fibrosis; Glomerulonephritis, IGA; Schizophrenia; Lupus Erythematosus, Systemic|Oral Ulcer|Systemic lupus erythematosus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Guillain-Barre Syndrome; B-Cell Lymphomas|Lymphoma, B-Cell|Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; allergies; common cold; small for gestational age; irritable bowel syndrome; HIV Infections; Kidney Diseases; Common Cold|; Carcinoma, Hepatocellular|Diabetes Complications|Diabetes Mellitus|Inflammation|Liver Neoplasms; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Uveitis; Atrial Fibrillation|Inflammation; Trypanosomiasis, African; renal transplant; infertility, tubal factor; lung transplant complications; Epstein-Barr virus infection; Hepatitis C, Chronic; renal allograft rejection; Chorioretinitis|Toxoplasmosis, Ocular; cervical intraepithelial neoplasia grade 3; Cardiovascular Disease; Esophagitis|Gastritis, Atrophic|Gastroesophageal Reflux|Helicobacter Infections; Multiple System Atrophy; Adult Respiratory Distress Syndrome|Multiple Organ Failure|Respiratory Distress Syndrome, Adult|Wounds and Injuries; Polyarteritis Nodosa|Wegener Granulomatosis; hypertension; hepatitis A vaccination, humoral immune response; Human Longevity; periodontal disease; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; pancreatitis; sepsis; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Sepsis|Systemic infection; Behcet Syndrome|Disease Susceptibility|Skin Diseases; Lymphadenitis|Tuberculosis|Tuberculosis, Pulmonary; Otitis Media|Recurrence; hepatitis C; longevity; skin squamous cell carcinoma; lymphoproliferative disorders, post-transplant; Omenn syndrome severe combined immunideficiency; giant cell arteritis; HTLV-I Infections|Paraparesis, Tropical Spastic|Spinal Cord Diseases; Gastritis|Helicobacter Infections|Metaplasia|Precancerous Conditions|Stomach Neoplasms; Coronary Restenosis|Inflammation; blastomycosis; Brazilian|Paracoccidioidomycosis; Retinal Artery Occlusion; Hepatitis B|Hepatitis C; Cervical Neoplasm|Uterine Cervical Neoplasms; liver cancer; chronic obstructive pulmonary disease/COPD; cytomegalovirus; rheumatoid arthritis; Cytomegalovirus Infections|Epstein-Barr Virus Infections|Herpes Simplex|Herpes Simplex Infections|Herpesviridae Infections; Aortic Aneurysm, Abdominal|Aortic Rupture; Helicobacter Infections|Precancerous Conditions|Stomach Neoplasms; Schistosomiasis mansoni; liver disease, alcoholic; hematopoietic stem cell transplantation; Hepatitis B; Hepatitis C; Brain Ischemia|Inflammation|Stroke; Herpes Zoster; Aortic Aneurysm, Abdominal; Inflammation|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Periodontal Diseases; Aspergillosis|Cystic Fibrosis|Lung Diseases, Fungal; Alzheimer's disease; melanoma; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hypertension/complications*; Fetal Death|Pre-Eclampsia|Pregnancy Complications|Premature Birth; Anemia|Malaria|Malaria, Falciparum|Parasitemia; metabolic syndrome; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse|Remission, Spontaneous; Dermatomyositis; Ophthalmia, Sympathetic; arthritis; respiratory syncytial virus; Longevity; Chronic Periodontitis; Silicosis|Tuberculosis, Pulmonary; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Adenocarcinoma|Stomach Neoplasms; inflammatory bowel disease ; Hepatitis B|Hypersensitivity|Uremia; Heart Valve Diseases|Rheumatic Heart Disease; Food Hypersensitivity; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; cytokine production; cardiovascular risk; Gingivitis; Multiple Organ Failure|Wounds and Injuries; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's|Lymphoma, T-Cell|T-Cell Lymphoma; herpesvirus, Kaposi sarcoma-associated; bronchodilator response; Adenocarcinoma|Helicobacter Infections|Stomach Neoplasms; Hodgkin Disease; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; leukemia, acute myeloid; myelodysplasia; arteriosclerosis; microinflammation; epidermodysplasia verruciformis; Infection|Inflammation|Premature Birth; Premature Birth; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse; Type 2 Diabetes| edema | rosiglitazone; Cardiovascular Diseases|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Malaria, Falciparum; Cachexia|Stomach Neoplasms; Acute Lung Injury|Inflammation; Colitis, Ulcerative; diabetes, type 1; Gastritis, Atrophic|Helicobacter Infections; Mucocutaneous Lymph Node Syndrome; Leukemia, Lymphocytic, Chronic, B-Cell; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; Hepatitis, Viral, Human|Liver Failure, Acute; Parkinson's disease; tuberculosis; trypanosomiasis; Q fever; kidney transplant; hepatitis C; Schistosoma mansoni infection; kidney failure; liver disease; atopy beta-lactam allergy; infection, postoperative; Sarcoidosis; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Behcet Syndrome; Tuberculosis|Tuberculosis, Pulmonary; longevity; Sjogrens syndrome; major depressive disorder and panic disorder; Osteolysis|Prosthesis Failure; measles vaccine immunity; Diarrhea|Escherichia coli Infections; Melanoma|Skin Neoplasms; Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Epstein-Barr Virus Infections|Hodgkin Disease|Pseudolymphoma; non-Hodgkin's lymphoma; sarcoidosis; anti-Ro autoantibodies; hepatitis B and C virus infection; Diffuse Scleroderma|Limited Scleroderma|Scleroderma, Diffuse|Scleroderma, Limited; Adenoma|Colorectal Neoplasms|Recurrence; type 1 diabetes; Neovascularization, Pathologic|Retinal Vasculitis; Coronary Disease|Coronary heart disease|Mucocutaneous Lymph Node Syndrome; Adenomatous Polyps|Colorectal Neoplasms|Neoplasm Recurrence, Local; Graves Ophthalmopathy|Thyroid associated opthalmopathies; atopy; leukemia, acute myeloid; longevity; myelodysplasia; graft versus host disease; Chlamydia; Myasthenia Gravis|Thymoma|Thymus Neoplasms; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; parvovirus; multiple sclerosis; sudden infant death syndrome; kidney transplant complications; SARS (severe acute respiratory syndrome); Gastritis, Atrophic|Stomach Neoplasms; Chlamydia Infections|Infertility, Female; Hepatitis B|Hepatitis C|Reperfusion Injury; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; paediatric renal allograft; Acquired Immunodeficiency Syndrome|AIDS-Related Opportunistic Infections|Cytomegalovirus Retinitis; Crohn Disease|Crohn's disease; Lupus Nephritis|Nephritis SLE; Pneumococcal septic shock; Duodenal Diseases|Helicobacter Infections|Stomach Diseases; benzene haematotoxicity; AHG deficiency disease|Hemophilia A; Hypersensitivity|Occupational Diseases; Hepatitis C|Hepatitis C, Chronic; Irritable Bowel Syndrome; Cardiovascular Diseases|Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; systemic lupus erythematosus; pneumonia; graft-vs-host disease; Kidney Failure, Chronic; Carcinoma, Renal Cell|Inflammation|Kidney Neoplasms|Neoplasm Metastasis; ankylosing spondylitis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Fibrosis|Hepatitis C; Drug-Induced Liver Injury|Hepatitis, Toxic; Cadaver; IgA Deficiency; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis, Alcoholic; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; psoriasis; liver disease; hepatitis C, chronic; bone marrow transplantation; pharmacogenetic studies; nasopharyngeal cancer; Arthritis, Rheumatoid|; Tuberculosis, Pulmonary; acute rejection after kidney transplantation; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Chronic renal failure|Inflammation|Kidney Failure, Chronic|Malnutrition; Chronic renal failure|Kidney Failure, Chronic; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; malaria; Sjogren's Syndrome; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Precancerous Conditions|Squamous cell carcinoma|Uterine Cervical Neoplasms; interleukin-10 response after cardiopulmonary bypass.; juvenile arthritis; breast cancer; dermatitis and eczema; atrial fibrillation; schizophrenia; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; Premature Birth|Vaginosis, Bacterial; Fatty Liver|Hepatitis C, Chronic|Insulin Resistance; Dengue Hemorrhagic Fever; Barrett Esophagus|Hernia, Hiatal|Inflammation; Cardiovascular Diseases|Peripheral Vascular Diseases; melanoma|Skin Neoplasms; Cervical Neoplasm|Neoplasm Invasiveness|Uterine Cervical Neoplasms; myocardial infarct; Lymphoma, Large B-Cell, Diffuse; Hepatitis B|Recurrence; Leprosy; Common Cold|Otitis Media|Picornaviridae Infections; Acute Coronary Syndrome; Lymphadenitis|Mycobacterium Infections|Periodontitis; Hepatitis C|Recurrence; bronchiolitis obliterans syndrome; cell-surface B7 expression; cytokine production; Coronary Heart Disease and Myocardial Infarction; inflammatory bowel disease; Alphavirus Infections|Infectious Mononucleosis|Q Fever; Duodenal Diseases|Helicobacter Infections|Stomach Neoplasms; Disease|Gastritis|Stomach Neoplasms; interstitial lung diseases; Pneumonia|Respiratory Distress Syndrome, Newborn|Sepsis; Constipation|Diarrhea|Gastroenteritis|Irritable Bowel Syndrome; HTLV-I Infections; Diabetes Mellitus, Type 2|Obesity|Polycystic Ovary Syndrome; Arthritis, Psoriatic|Psoriatic arthropathy; Hepatitis B, Chronic|Liver Cirrhosis; coronary artery disease; pancreatitis, chronic; lymphoma; Endometriosis; Asthma|; Glomerulonephritis, IGA|Recurrence; Hodgkin Disease|Inflammation; Coronary Disease|Coronary heart disease|Myocardial Infarction; Bronchitis, Chronic|Bronchopneumonia|Chronic bronchitis |Communicable Diseases; Lupus; Rubella vaccine, cytokine response to; adenocarcinoma ; lipoprotein level; Erythema Nodosum|Sarcoidosis; Severe Acute Respiratory Syndrome; Coronary Artery Disease|Inflammation; Chlamydia Infections|Inflammation|Trachoma; Asthma|Drug Hypersensitivity|Rhinitis, Allergic, Perennial|Sinusitis; Lymphoproliferative Disorders; kidney; failure|Renal Insufficiency; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; null; Hepatitis B, Chronic; normal variation; epithelial ovarian cancer ; Lymphocytosis|Lymphoproliferative Disorders; Delayed Graft Function|Inflammation; Hepatitis C, Chronic|Viremia; Trachoma; Wounds and Injuries; Endotoxemia; sepsis; kawasaki disease; Endometriosis|Uterine Diseases; lung function; Prostatitis; Myasthenia Gravis|Thymoma; esophageal cancer ; Cytomegalovirus Infections; syncytial virus bronchiolitis; Neoplasms; Coronary Disease; Malaria, Falciparum|Parasitemia; desensitization in solid organ transplant recipients ; Inflammation|Premature Birth; Graves Disease|Graves' Disease; Gastritis|Helicobacter Infections|Peptic Ulcer|Stomach Neoplasms; Carcinoma|Nasopharyngeal Neoplasms; Multiple Organ Failure|Multiple Trauma|Sepsis|Systemic infection; Aspergillosis|Graft vs Host Disease; asthma; ovarian cancer; Sjogren's syndrome; atherosclerosis; Carcinoma, Hepatocellular|Hepatitis B|LCC - Liver cell carcinoma|Liver neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Coronary Disease|Coronary heart disease; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; gastric carcinoma; Liver Diseases, Alcoholic; pemphigus vulgaris; anticardiolipin antibody production lupus erythematosus; Stomach Neoplasms; Dermatitis, Atopic|Dermatitis, Irritant|Dermatitis, Occupational|Hand Dermatoses; Critical Illness|Sepsis|Systemic infection|Wounds and Injuries; Albuminuria|Inflammation|Kidney Diseases; Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Neoplasm Invasiveness|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney graft survival; aphthous stomatitis; Hodgkin's disease; respiratory distress syndrome, neonatal; Crohn Disease; gastric cancer; Carcinoma, Renal Cell|Colonic Neoplasms|Kidney Neoplasms|Renal Cell Carcinoma; Critical Illness|Sepsis|Systemic infection; Kidney Failure, Acute; pregnancy loss, recurrent; Asthma. DRS. Total IgE; Bacteremia|; Brucellosis; Degenerative arthropathy |Osteoarthritis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; cirrhosis, biliary primary; nephropathy, IgA; bladder cancer; Epstein-Barr Virus Infections|Hodgkin Disease; myasthenia gravis; Colitis, Ulcerative|; Chagas Cardiomyopathy|; Aggressive Periodontitis|Chronic Periodontitis|; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; kidney disease; vascular disease; Non-Hodgkin's B cell lymphoma; prostatic hyperplasia; Total serum IgE; sclerosis, systemic; colorectal cancer; Migraine Disorders; Graves disease; Carotid artery stenosis|Carotid Stenosis; Type 2 diabetes; Arthritis; Hypercholesterolemia|LDLC levels; Wegener Granulomatosis; pulmonary fibrosis; acute GVHD; cytokine lung function; renal allograft outcome; Colonic Neoplasms|; gastroenteritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Lichen Planus, Oral; Coronary Restenosis|Postoperative Complications; Critical Illness|Pneumonia|Sepsis|Systemic infection; Osteoarthritis, Knee; Celiac Disease; Papillomavirus Infections; HIV; skin cancer, non-melanoma; lupus erythematosus; Leishmaniasis, Cutaneous; haemophilia A; Delayed Graft Function; Dermatitis, Atopic|; obesity; Pancreatitis; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Lupus Erythematosus, Discoid|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; brucellosis; patent ductus arteriosus; Brucellosis|; Disease Models, Animal|Fever|Seizures, Febrile; miscarriage; Abortion, Spontaneous; Acidosis, Lactic; Aneurysm, Ruptured|Aortic Aneurysm, Abdominal; Coronary Artery Disease; panencephalitis, subacute sclerosing; disc disease, intervertebral; hemophilia A; Inflammation| AGING; Chronic ulcerative colitis|Colitis, Ulcerative; Adult Respiratory Distress Syndrome|Respiratory Distress Syndrome, Adult; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Glomerulonephritis|Kidney Failure, Chronic; Coronary Restenosis|Coronary Stenosis|Myocardial Infarction	Homozygotes for a targeted null mutation exhibit retarded growth, anemia, chronic enterocolitis, a high incidence of colorectal adenocarcinomas, and altered responses to various infectious organisms such as Mycobacterium bovis and Leishmania donovani.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0001818;negative regulation of cytokine production;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0002237;response to molecule of bacterial origin;IDA|GO:0002740;negative regulation of cytokine secretion involved in immune response;IDA|GO:0002875;negative regulation of chronic inflammatory response to antigenic stimulus;IEA|GO:0002904;positive regulation of B cell apoptotic process;IDA|GO:0006954;inflammatory response;IDA|GO:0006955;immune response;IEA|GO:0007253;cytoplasmic sequestering of NF-kappaB;NAS|GO:0007267;cell-cell signaling;IC|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IDA|GO:0014823;response to activity;IEA|GO:0014854;response to inactivity;IEA|GO:0030097;hemopoiesis;TAS|GO:0030183;B cell differentiation;NAS|GO:0030595;leukocyte chemotaxis;TAS|GO:0030886;negative regulation of myeloid dendritic cell activation;IEA|GO:0030889;negative regulation of B cell proliferation;IDA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032689;negative regulation of interferon-gamma production;IEA|GO:0032692;negative regulation of interleukin-1 production;TAS|GO:0032695;negative regulation of interleukin-12 production;TAS|GO:0032701;negative regulation of interleukin-18 production;TAS|GO:0032715;negative regulation of interleukin-6 production;TAS|GO:0032717;negative regulation of interleukin-8 production;TAS|GO:0032720;negative regulation of tumor necrosis factor production;TAS|GO:0032800;receptor biosynthetic process;IDA|GO:0032868;response to insulin;IEA|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IEA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;ISS|GO:0034465;response to carbon monoxide;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IEA|GO:0042092;type 2 immune response;TAS|GO:0042100;B cell proliferation;NAS|GO:0042130;negative regulation of T cell proliferation;NAS|GO:0042493;response to drug;IEA|GO:0042536;negative regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043032;positive regulation of macrophage activation;IEA|GO:0043066;negative regulation of apoptotic process;NAS|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0045191;regulation of isotype switching;NAS|GO:0045347;negative regulation of MHC class II biosynthetic process;TAS|GO:0045348;positive regulation of MHC class II biosynthetic process;IEA|GO:0045355;negative regulation of interferon-alpha biosynthetic process;NAS|GO:0045787;positive regulation of cell cycle;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050715;positive regulation of cytokine secretion;IDA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050807;regulation of synapse organization;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051384;response to glucocorticoid;IDA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0060302;negative regulation of cytokine activity;IMP|GO:0060670;branching involved in labyrinthine layer morphogenesis;IEA|GO:0071222;cellular response to lipopolysaccharide;NAS|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071650;negative regulation of chemokine (C-C motif) ligand 5 production;TAS|GO:0072577;endothelial cell apoptotic process;ISS|GO:0097421;liver regeneration;IEA|GO:1903034;regulation of response to wounding;IEA|GO:1904057;negative regulation of sensory perception of pain;IEA|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;ISS|GO:2000352;negative regulation of endothelial cell apoptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA	GO:0005125;cytokine activity;NAS|GO:0005141;interleukin-10 receptor binding;NAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL10	https://www.uniprot.org/uniprot/P22301	https://hpo.jax.org/app/browse/search?q=IL10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=124092	http://www.informatics.jax.org/searchtool/Search.do?query=IL10&submit=Quick%0D%7374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL10	rs3024496	0.28774	0	0	1	0	0	UTR3	UTR3	UTR3	IL10(NM_000572:c.*117T>C)	IL10(uc001hen.1:c.*117T>C)	ENSG00000136634(ENST00000423557:c.*117T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	44;2|2	Hom;A>G	97;0|3
N	N	-	1	207014472	207014472	A	C	snp	intronic	 	 	 	 	IL19	Il19	ENSG00000142224	interleukin 19	chr1:206972215-207016324	The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]	respiratory syncytial virus bronchiolitis; hepatitis C; diabetes, type 1 ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis B; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Multiple Myeloma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis B, Chronic; benzene haematotoxicity; palmoplanta pustulosis; HIV Infections|[X]Human immunodeficiency virus disease; major depressive disorder; major depressive disorder and panic disorder; Tobacco Use Disorder; longevity; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; ulcerative colitis; Inflammation|Venous Thromboembolism	Mice homozygous for a knock-out allele exhibit interleukin-23 (IL-23)-dependent epidermal hyperplasia. Mice homozygous for a different knock-out allele exhibit increased susceptibility to induced colitis with reduced B cell infiltration in chronic colitis.	Interleukin-19,20,22,24,26,28 and 29 signaling	GO:0006915;apoptotic process;IEA|GO:0006955;immune response;NAS|GO:0007165;signal transduction;NAS|GO:0042226;interleukin-6 biosynthetic process;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL19	https://www.uniprot.org/uniprot/Q9UHD0		https://www.ncbi.nlm.nih.gov/omim/?term=605687	http://www.informatics.jax.org/searchtool/Search.do?query=IL19&submit=Quick%0D%8265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL19	rs2243188	0.613818	0.7135	0.6920	1	0	0	intronic	intronic	intronic	IL19	IL19	ENSG00000142224	Na	Na	Na	Na	Na	Na	Het;A>C	190;33|13	Hom;A>C	930;2|36
N	N	-	1	207015957	207015957	T	C	snp	nonsynonymous SNV	T524C	F175S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	IL19	Il19	ENSG00000142224	interleukin 19	chr1:206972215-207016324	The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]	respiratory syncytial virus bronchiolitis; hepatitis C; diabetes, type 1 ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis B; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Multiple Myeloma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis B, Chronic; benzene haematotoxicity; palmoplanta pustulosis; HIV Infections|[X]Human immunodeficiency virus disease; major depressive disorder; major depressive disorder and panic disorder; Tobacco Use Disorder; longevity; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; ulcerative colitis; Inflammation|Venous Thromboembolism	Mice homozygous for a knock-out allele exhibit interleukin-23 (IL-23)-dependent epidermal hyperplasia. Mice homozygous for a different knock-out allele exhibit increased susceptibility to induced colitis with reduced B cell infiltration in chronic colitis.	Interleukin-19,20,22,24,26,28 and 29 signaling	GO:0006915;apoptotic process;IEA|GO:0006955;immune response;NAS|GO:0007165;signal transduction;NAS|GO:0042226;interleukin-6 biosynthetic process;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL19	https://www.uniprot.org/uniprot/Q9UHD0		https://www.ncbi.nlm.nih.gov/omim/?term=605687	http://www.informatics.jax.org/searchtool/Search.do?query=IL19&submit=Quick%0D%8265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL19	rs2243191	0.672923	0.7963	0.7479	0.15	2	13	exonic	exonic	exonic	IL19	IL19	ENSG00000142224	nonsynonymous SNV	nonsynonymous SNV	unknown	IL19:NM_013371:exon7:c.T524C:p.F175S,IL19:NM_153758:exon6:c.T638C:p.F213S,	IL19:uc001hep.3:exon7:c.T524C:p.F175S,IL19:uc001heo.3:exon6:c.T638C:p.F213S,	UNKNOWN	Het;T>C	990;42|45	Hom;T>C	2548;0|90
N	N	-	1	207040659	207040659	G	A	snp	intronic	 	 	 	 	IL20	Il20	ENSG00000162891	interleukin 20	chr1:207038699-207042568	The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hepatitis C; palmoplanta pustulosis; respiratory syncytial virus bronchiolitis; HIV Infections|[X]Human immunodeficiency virus disease; major depressive disorder; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; Hepatitis B, Chronic	Homozygous mice show an increased inflammatory response in contact hypersensitivity assays.	Interleukin-19,20,22,24,26,28 and 29 signaling	GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;TAS|GO:0045606;positive regulation of epidermal cell differentiation;TAS|GO:0045618;positive regulation of keratinocyte differentiation;TAS|GO:0045672;positive regulation of osteoclast differentiation;IEA|GO:0050727;regulation of inflammatory response;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0045517;interleukin-20 receptor binding;TAS|GO:0045518;interleukin-22 receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL20			https://www.ncbi.nlm.nih.gov/omim/?term=605619	http://www.informatics.jax.org/searchtool/Search.do?query=IL20&submit=Quick%0D%10824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL20	rs2232360	0.673323	0	0	1	0	0	intronic	intronic	intronic	IL20	IL20	ENSG00000162891	Na	Na	Na	Na	Na	Na	Het;G>A	219;21|11	Hom;G>A	736;0|25
N	N	-	1	207291436	207291436	A	T	snp	intronic	 	 	 	 	C4BPA		ENSG00000123838	complement component 4 binding protein alpha	chr1:207277607-207318317	This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]	Macular Degeneration; Lymphoma, Non-Hodgkin; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; plasma C4b binding protein levels ; Hemolytic-Uremic Syndrome|Macular Degeneration; atypical hemolytic uremic syndrome; Hemolytic-Uremic Syndrome|Kidney Failure, Acute; Meningeal Neoplasms|meningioma		Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0045959;negative regulation of complement activation, classical pathway;IDA|GO:1903027;regulation of opsonization;IC	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0044216;other organism cell;IDA|GO:0072562;blood microparticle;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C4BPA	https://www.uniprot.org/uniprot/P04003		https://www.ncbi.nlm.nih.gov/omim/?term=120830	http://www.informatics.jax.org/searchtool/Search.do?query=C4BPA&submit=Quick%0D%5566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4BPA	rs5003928	0.598243	0	0	1	0	0	intronic	intronic	intronic	C4BPA	C4BPA	ENSG00000123838	Na	Na	Na	Na	Na	Na	Het;A>T	176;2|5	Hom;A>T	377;0|9
N	N	-	1	207291454	207291458	TTATC	T	indel	intronic	 	 	 	 	C4BPA		ENSG00000123838	complement component 4 binding protein alpha	chr1:207277607-207318317	This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]	Macular Degeneration; Lymphoma, Non-Hodgkin; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; plasma C4b binding protein levels ; Hemolytic-Uremic Syndrome|Macular Degeneration; atypical hemolytic uremic syndrome; Hemolytic-Uremic Syndrome|Kidney Failure, Acute; Meningeal Neoplasms|meningioma		Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0045959;negative regulation of complement activation, classical pathway;IDA|GO:1903027;regulation of opsonization;IC	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0044216;other organism cell;IDA|GO:0072562;blood microparticle;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C4BPA	https://www.uniprot.org/uniprot/P04003		https://www.ncbi.nlm.nih.gov/omim/?term=120830	http://www.informatics.jax.org/searchtool/Search.do?query=C4BPA&submit=Quick%0D%5566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4BPA	rs5780373	0.598043	0	0	1	0	0	intronic	intronic	intronic	C4BPA	C4BPA	ENSG00000123838	Na	Na	Na	Na	Na	Na	Het;-TATC	167;2|5	Hom;-TATC	368;0|9
N	N	-	1	207291482	207291482	G	A	snp	intronic	 	 	 	 	C4BPA		ENSG00000123838	complement component 4 binding protein alpha	chr1:207277607-207318317	This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]	Macular Degeneration; Lymphoma, Non-Hodgkin; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; plasma C4b binding protein levels ; Hemolytic-Uremic Syndrome|Macular Degeneration; atypical hemolytic uremic syndrome; Hemolytic-Uremic Syndrome|Kidney Failure, Acute; Meningeal Neoplasms|meningioma		Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0045959;negative regulation of complement activation, classical pathway;IDA|GO:1903027;regulation of opsonization;IC	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0044216;other organism cell;IDA|GO:0072562;blood microparticle;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C4BPA	https://www.uniprot.org/uniprot/P04003		https://www.ncbi.nlm.nih.gov/omim/?term=120830	http://www.informatics.jax.org/searchtool/Search.do?query=C4BPA&submit=Quick%0D%5566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4BPA	rs5003929	0.597644	0	0	1	0	0	intronic	intronic	intronic	C4BPA	C4BPA	ENSG00000123838	Na	Na	Na	Na	Na	Na	Het;G>A	364;2|10	Hom;G>A	377;0|9
N	N	-	1	207291506	207291514	GTCTGTCTA	G	indel	intronic	 	 	 	 	C4BPA		ENSG00000123838	complement component 4 binding protein alpha	chr1:207277607-207318317	This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]	Macular Degeneration; Lymphoma, Non-Hodgkin; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; plasma C4b binding protein levels ; Hemolytic-Uremic Syndrome|Macular Degeneration; atypical hemolytic uremic syndrome; Hemolytic-Uremic Syndrome|Kidney Failure, Acute; Meningeal Neoplasms|meningioma		Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0045959;negative regulation of complement activation, classical pathway;IDA|GO:1903027;regulation of opsonization;IC	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0044216;other organism cell;IDA|GO:0072562;blood microparticle;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C4BPA	https://www.uniprot.org/uniprot/P04003		https://www.ncbi.nlm.nih.gov/omim/?term=120830	http://www.informatics.jax.org/searchtool/Search.do?query=C4BPA&submit=Quick%0D%5566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4BPA	rs34582755	0	0	0	1	0	0	intronic	intronic	intronic	C4BPA	C4BPA	ENSG00000123838	Na	Na	Na	Na	Na	Na	Het;-TCTGTCTA	355;2|10	Hom;-TCTGTCTA	368;0|9
N	N	-	1	207314388	207314388	C	T	snp	intronic	 	 	 	 	C4BPA		ENSG00000123838	complement component 4 binding protein alpha	chr1:207277607-207318317	This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]	Macular Degeneration; Lymphoma, Non-Hodgkin; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; plasma C4b binding protein levels ; Hemolytic-Uremic Syndrome|Macular Degeneration; atypical hemolytic uremic syndrome; Hemolytic-Uremic Syndrome|Kidney Failure, Acute; Meningeal Neoplasms|meningioma		Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0045959;negative regulation of complement activation, classical pathway;IDA|GO:1903027;regulation of opsonization;IC	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0044216;other organism cell;IDA|GO:0072562;blood microparticle;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C4BPA	https://www.uniprot.org/uniprot/P04003		https://www.ncbi.nlm.nih.gov/omim/?term=120830	http://www.informatics.jax.org/searchtool/Search.do?query=C4BPA&submit=Quick%0D%5566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4BPA	rs12043615	0.0800719	0	0	1	0	0	intronic	intronic	intronic	C4BPA	C4BPA	ENSG00000123838	Na	Na	Na	Na	Na	Na	Het;C>T	166;3|7	Hom;C>T	194;0|7
N	N	-	1	207874739	207874739	C	G	snp	intronic	 	 	 	 	CR1L	Cr1l	ENSG00000197721	complement C3b/C4b receptor 1 like	chr1:207818458-207911761		LDL cholesterol; Blood Sedimentation; Lipoproteins, LDL; Cholesterol, LDL	Mice homozygous for a knock-out allele die by E16.5 with abnormal C3 deposition.  Mice homozygous for a null allele activated in single positive thymocytes exhibit T cell lymphopenia.			GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0043235;receptor complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CR1L			https://www.ncbi.nlm.nih.gov/omim/?term=605886	http://www.informatics.jax.org/searchtool/Search.do?query=CR1L&submit=Quick%0D%16698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CR1L	rs34828104	0.323283	0	0	1	0	0	intronic	intronic	intronic	CR1L	CR1L	ENSG00000197721	Na	Na	Na	Na	Na	Na	Het;C>G	181;5|7	Hom;C>G	215;0|6
N	N	-	1	208219164	208219164	A	C	snp	intronic	 	 	 	 	PLXNA2	Plxna2	ENSG00000076356	plexin A2	chr1:208195587-208417665	This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Parkinson's disease ; bone density fractures, vertebral osteoporosis, postmenopausal; schizophrenia; Cardiovascular Diseases; Cardiomegaly; anxiety depression neuroticism psychological distress; Blood Pressure Determination; Life Expectancy; Triglycerides; Hip; Blood Pressure; Neuroblastoma; Anxiety; Schizophrenia; Myocardial Infarction	Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance.	Other semaphorin interactions	GO:0001756;somitogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021915;neural tube development;IEA|GO:0021935;cerebellar granule cell precursor tangential migration;IEA|GO:0030334;regulation of cell migration;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0051642;centrosome localization;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060174;limb bud formation;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA2	https://www.uniprot.org/uniprot/O75051		https://www.ncbi.nlm.nih.gov/omim/?term=601054	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA2&submit=Quick%0D%1583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA2	rs1536471	0.755192	0	0	1	0	0	intronic	intronic	intronic	PLXNA2	PLXNA2	ENSG00000076356	Na	Na	Na	Na	Na	Na	Het;A>C	510;8|18	Hom;A>C	932;0|28
N	N	-	1	208255877	208255877	T	C	snp	intronic	 	 	 	 	PLXNA2	Plxna2	ENSG00000076356	plexin A2	chr1:208195587-208417665	This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Parkinson's disease ; bone density fractures, vertebral osteoporosis, postmenopausal; schizophrenia; Cardiovascular Diseases; Cardiomegaly; anxiety depression neuroticism psychological distress; Blood Pressure Determination; Life Expectancy; Triglycerides; Hip; Blood Pressure; Neuroblastoma; Anxiety; Schizophrenia; Myocardial Infarction	Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance.	Other semaphorin interactions	GO:0001756;somitogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021915;neural tube development;IEA|GO:0021935;cerebellar granule cell precursor tangential migration;IEA|GO:0030334;regulation of cell migration;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0051642;centrosome localization;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060174;limb bud formation;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA2	https://www.uniprot.org/uniprot/O75051		https://www.ncbi.nlm.nih.gov/omim/?term=601054	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA2&submit=Quick%0D%1583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA2	rs6540453	0.563898	0.6265	0.6435	1	0	0	intronic	intronic	intronic	PLXNA2	PLXNA2	ENSG00000076356	Na	Na	Na	Na	Na	Na	Het;T>C	766;34|37	Hom;T>C	2406;0|91
N	N	-	1	20915589	20915590	TC	T	indel	UTR5	-34_-33delinsT	 	 	 	CDA	Cda	ENSG00000158825	cytidine deaminase	chr1:20915441-20945401	This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]	Mucositis|Neoplasm, Residual|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombocytopenia; melanoma; Colorectal Neoplasms; Leukocyte Count; gemcitabine pharmacokinetics neutropenia; esophageal adenocarcinoma; Leukemia, Myeloid, Acute; lung cancer; null; Adenocarcinoma|Neoplasm Recurrence, Local|Stomach Neoplasms; Hearing Loss; pancreatic neoplasm; Neoplasms; leukemia, acute myeloblastic; lung cancer ; pancreatic cancer; Chronic renal failure|Kidney Failure, Chronic	 	Pyrimidine salvage	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0008655;pyrimidine-containing compound salvage;NAS|GO:0009972;cytidine deamination;IDA|GO:0019858;cytosine metabolic process;TAS|GO:0030308;negative regulation of cell growth;IDA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045980;negative regulation of nucleotide metabolic process;IDA|GO:0051289;protein homotetramerization;IDA	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0001882;nucleoside binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004126;cytidine deaminase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDA			https://www.ncbi.nlm.nih.gov/omim/?term=123920	http://www.informatics.jax.org/searchtool/Search.do?query=CDA&submit=Quick%0D%10258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDA	rs3215400	0.540535	0.5835	0.5407	1	0	0	UTR5	UTR5	UTR5	CDA(NM_001785:c.-34_-33delinsT)	CDA(uc001bdk.3:c.-34_-33delinsT)	ENSG00000158825(ENST00000375071:c.-34_-33delinsT)	Na	Na	Na	Na	Na	Na	Het;-C	1125;41|42	Hom;-C	2005;0|60
N	N	-	1	20969551	20969551	C	T	snp	ncRNA_exonic	 	 	 	 	PINK1-AS																		rs7550319	0.289137	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	PINK1-AS	PINK1	ENSG00000117242	Na	Na	Na	Na	Na	Na	Het;C>T	640;43|30	Hom;C>T	2748;0|102
N	N	-	1	20977000	20977000	A	C	snp	nonsynonymous SNV	A1562C	N521T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PINK1	Pink1	ENSG00000158828	PTEN induced putative kinase 1	chr1:20959948-20978004	This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]	Parkinsons disease; Parkinson's disease ; Chronic renal failure|Kidney Failure, Chronic; Parkinsonian Disorders; null; Parkinson Disease; Parkinson's disease; Diabetes Mellitus, Type 2; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Some mice homozygous for null mutations exhibit decreased dopamine content, reduced long term potentional and depression, mitochondrial abnormalities, and/or behavioral abnormalities. Some null mice model the early stages of Parkinson Disease.	Pink/Parkin Mediated Mitophagy	GO:0000422;mitophagy;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002082;regulation of oxidative phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0006914;autophagy;IEA|GO:0006950;response to stress;IDA|GO:0006979;response to oxidative stress;IGI|GO:0007005;mitochondrion organization;IMP|GO:0010310;regulation of hydrogen peroxide metabolic process;IEA|GO:0010629;negative regulation of gene expression;ISS|GO:0010821;regulation of mitochondrion organization;IMP|GO:0010952;positive regulation of peptidase activity;TAS|GO:0016236;macroautophagy;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;NAS|GO:0016567;protein ubiquitination;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0022904;respiratory electron transport chain;IEA|GO:0031396;regulation of protein ubiquitination;IMP|GO:0031398;positive regulation of protein ubiquitination;ISS|GO:0032148;activation of protein kinase B activity;IC|GO:0032226;positive regulation of synaptic transmission, dopaminergic;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033603;positive regulation of dopamine secretion;IEA|GO:0033605;positive regulation of catecholamine secretion;IEA|GO:0034599;cellular response to oxidative stress;IMP|GO:0035307;positive regulation of protein dephosphorylation;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0038203;TORC2 signaling;IC|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043254;regulation of protein complex assembly;IDA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0045727;positive regulation of translation;IEA|GO:0046329;negative regulation of JNK cascade;TAS|GO:0050821;protein stabilization;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051443;positive regulation of ubiquitin-protein transferase activity;TAS|GO:0051881;regulation of mitochondrial membrane potential;IGI|GO:0051897;positive regulation of protein kinase B signaling;IC|GO:0061136;regulation of proteasomal protein catabolic process;NAS|GO:0071456;cellular response to hypoxia;IMP|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090141;positive regulation of mitochondrial fission;IBA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IMP|GO:0090258;negative regulation of mitochondrial fission;IMP|GO:0097237;cellular response to toxic substance;TAS|GO:0098779;positive regulation of macromitophagy in response to mitochondrial depolarization;IMP|GO:0099074;mitochondrion to lysosome transport;IMP|GO:1900407;regulation of cellular response to oxidative stress;IMP|GO:1901727;positive regulation of histone deacetylase activity;IEA|GO:1902803;regulation of synaptic vesicle transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1902958;positive regulation of mitochondrial electron transport, NADH to ubiquinone;TAS|GO:1903146;regulation of mitophagy;TAS|GO:1903147;negative regulation of mitophagy;IMP|GO:1903202;negative regulation of oxidative stress-induced cell death;IDA|GO:1903204;negative regulation of oxidative stress-induced neuron death;TAS|GO:1903214;regulation of protein targeting to mitochondrion;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IEA|GO:1903384;negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway;IDA|GO:1903751;negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IDA|GO:1903852;positive regulation of cristae formation;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:1904544;positive regulation of free ubiquitin chain polymerization;ISS|GO:2000377;regulation of reactive oxygen species metabolic process;IGI|GO:2000378;negative regulation of reactive oxygen species metabolic process;IMP|GO:2001171;positive regulation of ATP biosynthetic process;TAS	GO:0000151;ubiquitin ligase complex;ISS|GO:0000785;chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005742;mitochondrial outer membrane translocase complex;IMP|GO:0005743;mitochondrial inner membrane;IDA|GO:0005758;mitochondrial intermembrane space;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IDA|GO:0031307;integral component of mitochondrial outer membrane;IDA|GO:0031932;TORC2 complex;IPI|GO:0044297;cell body;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097413;Lewy body;TAS|GO:0097449;astrocyte projection;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0002020;protease binding;IPI|GO:0004672;protein kinase activity;IMP|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010857;calcium-dependent protein kinase activity;IDA|GO:0016301;kinase activity;NAS|GO:0016504;peptidase activator activity;TAS|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0043422;protein kinase B binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055131;C3HC4-type RING finger domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PINK1		https://hpo.jax.org/app/browse/search?q=PINK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608309	http://www.informatics.jax.org/searchtool/Search.do?query=PINK1&submit=Quick%0D%10259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PINK1	rs1043424	0.300519	0.2700	0.2974	0.08	1	13	exonic	exonic	exonic	PINK1	PINK1	ENSG00000158828	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	PINK1:NM_032409:exon8:c.A1562C:p.N521T,	PINK1:uc001bdm.3:exon8:c.A1562C:p.N521T,PINK1:uc001bdn.3:exon4:c.A641C:p.N214T,	ENSG00000158828:ENST00000321556:exon8:c.A1562C:p.N521T,	Het;A>C	1762;102|78	Hom;A>C	4426;0|149
N	N	-	1	20977380	20977380	T	C	snp	ncRNA_exonic	 	 	 	 	PINK1-AS																		rs1043443	0.30012	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	PINK1-AS	PINK1(uc001bdm.3:c.*196T>C,uc001bdn.3:c.*196T>C)	ENSG00000117242	Na	Na	Na	Na	Na	Na	Het;T>C	922;51|46	Hom;T>C	2938;1|108
N	N	-	1	20977748	20977748	T	G	snp	ncRNA_exonic	 	 	 	 	PINK1-AS																		rs1043502	0.29992	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	PINK1-AS	PINK1(uc001bdm.3:c.*564T>G,uc001bdn.3:c.*564T>G)	ENSG00000117242	Na	Na	Na	Na	Na	Na	Het;T>G	2301;80|97	Hom;T>G	5555;0|190
N	N	-	1	20977856	20977856	T	C	snp	ncRNA_exonic	 	 	 	 	PINK1-AS																		rs2078073	0.302716	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	PINK1-AS	PINK1(uc001bdm.3:c.*672T>C,uc001bdn.3:c.*672T>C)	ENSG00000117242	Na	Na	Na	Na	Na	Na	Het;T>C	2663;112|119	Hom;T>C	6363;0|220
N	N	-	1	210156770	210156770	G	A	snp	intronic	 	 	 	 	SYT14	Syt14	ENSG00000143469	synaptotagmin 14	chr1:210111538-210337636	This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]	Blood Pressure; Tobacco Use Disorder; Echocardiography; Glucose; monocyte chemoattractant protein 1 (66-77); Myocardial Infarction; Creatinine; Glomerular Filtration Rate	 		GO:0006906;vesicle fusion;IBA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IBA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SYT14	https://www.uniprot.org/uniprot/Q8NB59	https://hpo.jax.org/app/browse/search?q=SYT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610949	http://www.informatics.jax.org/searchtool/Search.do?query=SYT14&submit=Quick%0D%8451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT14	rs7525980	0.732228	0	0	1	0	0	intronic	intronic	intronic	SYT14	SYT14	ENSG00000143469	Na	Na	Na	Na	Na	Na	Het;G>A	356;39|22	Hom;G>A	1493;0|57
N	N	-	1	210337043	210337043	A	G	snp	UTR3	*2656A>G	 	 	 	SYT14	Syt14	ENSG00000143469	synaptotagmin 14	chr1:210111538-210337636	This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]	Blood Pressure; Tobacco Use Disorder; Echocardiography; Glucose; monocyte chemoattractant protein 1 (66-77); Myocardial Infarction; Creatinine; Glomerular Filtration Rate	 		GO:0006906;vesicle fusion;IBA	GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IBA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SYT14	https://www.uniprot.org/uniprot/Q8NB59	https://hpo.jax.org/app/browse/search?q=SYT14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610949	http://www.informatics.jax.org/searchtool/Search.do?query=SYT14&submit=Quick%0D%8451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT14	rs4844954	0.857628	0	0.8090	1	0	0	UTR3	UTR3	UTR3	SYT14(NM_001146264:c.*2656A>G,NM_001146261:c.*2656A>G,NM_001146262:c.*2656A>G,NM_001256006:c.*2656A>G,NM_153262:c.*2656A>G)	SYT14(uc001hhs.5:c.*2656A>G,uc001hht.5:c.*2656A>G,uc010psn.3:c.*2656A>G,uc010pso.3:c.*2656A>G,uc009xcv.4:c.*2656A>G,uc010psp.2:c.*2656A>G)	ENSG00000143469(ENST00000537238:c.*2656A>G,ENST00000399639:c.*3006A>G,ENST00000534859:c.*2656A>G,ENST00000422431:c.*2656A>G,ENST00000367015:c.*2656A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1585;66|70	Hom;A>G	3810;0|133
N	N	-	1	210407339	210407339	T	A	snp	ncRNA_exonic	 	 	 	 	SERTAD4-AS1																		rs34824193	0	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	SERTAD4-AS1	SERTAD4-AS1(uc001hhx.4:c.-60A>T)	ENSG00000203706	Na	Na	Na	Na	Na	Na	Het;T>A	739;48|41	Hom;T>A	2442;5|79
N	N	-	1	210459159	210459159	A	G	snp	intergenic	 	 	 	 	ST13P19																		rs649009	0.81889	0	0	1	0	0	intergenic	intergenic	intergenic	SERTAD4(dist=42719),HHAT(dist=42437)	SERTAD4(dist=42719),HHAT(dist=42437)	ENSG00000228110(dist=18572),ENSG00000233455(dist=17870)	Na	Na	Na	Na	Na	Na	Het;A>G	116;6|6	Hom;A>G	485;0|14
N	N	-	1	2111376	2111376	A	G	snp	intronic	 	 	 	 	PRKCZ	Prkcz	ENSG00000067606	protein kinase C zeta	chr1:1981909-2116834	Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Intuition; Body Height; diabetes, type 2; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone	Young, not mature, homozygous null mice have reduced B cell numbers and abnormal secondary lymph organ structure. Young mice have fewer Peyer's patches, poor delineation of B & T cell zones, and fewer follicles of small size. Spleens have less prominent B cell follicles and abnormal marginal zones.	VEGFR2 mediated cell proliferation	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0001954;positive regulation of cell-matrix adhesion;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007616;long-term memory;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030010;establishment of cell polarity;IEA|GO:0031333;negative regulation of protein complex assembly;IMP|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0031584;activation of phospholipase D activity;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045630;positive regulation of T-helper 2 cell differentiation;IEA|GO:0046326;positive regulation of glucose import;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0047496;vesicle transport along microtubule;IEA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051222;positive regulation of protein transport;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0051899;membrane depolarization;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0070528;protein kinase C signaling;IEA|GO:0072659;protein localization to plasma membrane;IEA|GO:1990138;neuron projection extension;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000553;positive regulation of T-helper 2 cell cytokine production;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA|GO:2001181;positive regulation of interleukin-10 secretion;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;TAS|GO:0005768;endosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;TAS|GO:0016324;apical plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;TAS|GO:0031252;cell leading edge;IEA|GO:0031941;filamentous actin;IEA|GO:0031982;vesicle;IDA|GO:0035748;myelin sheath abaxonal region;IEA|GO:0043203;axon hillock;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045179;apical cortex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004697;protein kinase C activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015459;potassium channel regulator activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043274;phospholipase binding;IEA|GO:0043560;insulin receptor substrate binding;IC|GO:0046872;metal ion binding;IEA|GO:0071889;14-3-3 protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRKCZ	https://www.uniprot.org/uniprot/Q05513		https://www.ncbi.nlm.nih.gov/omim/?term=176982	http://www.informatics.jax.org/searchtool/Search.do?query=PRKCZ&submit=Quick%0D%1259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCZ	rs2480711	0.473243	0	0	1	0	0	intronic	intronic	intronic	PRKCZ	PRKCZ	ENSG00000067606	Na	Na	Na	Na	Na	Na	Het;A>G	40;4|3	Hom;A>G	113;0|5
N	N	-	1	211192707	211192707	G	A	snp	intronic	 	 	 	 	KCNH1	Kcnh1	ENSG00000283965	potassium voltage-gated channel subfamily H member 1	chr1:210856555-211307457	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Glomerular Filtration Rate; Stroke; Alcoholism; Body Weight; Long QT Syndrome|Sinus Tachycardia|Tachycardia, Sinus; Schizophrenia; Tobacco Use Disorder; Body Mass Index; Creatinine	Homozygous mutant mice exhibit a decreased depressive-like response during tail suspension testing. Mice homozygous for a different knock-out allele exhibit longer latency to move in haloperidol-treated mice and mild hyperactivity.					http://www.genecards.org/index.php?path=/Search/keyword/KCNH1	https://www.uniprot.org/uniprot/O95259	https://hpo.jax.org/app/browse/search?q=KCNH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603305	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH1&submit=Quick%0D%22863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH1	rs11119658	0.358826	0	0	1	0	0	intronic	intronic	intronic	KCNH1	KCNH1	ENSG00000143473	Na	Na	Na	Na	Na	Na	Het;G>A	335;1|12	Hom;G>A	531;0|17
N	N	-	1	212669490	212669490	T	C	snp	intergenic	 	 	 	 	AC092803.1																		rs665276	0.604233	0	0	1	0	0	intergenic	intergenic	intergenic	NENF(dist=49769),LOC101929565(dist=49546)	NENF(dist=49769),ATF3(dist=69186)	ENSG00000224535(dist=28405),ENSG00000228067(dist=49546)	Na	Na	Na	Na	Na	Na	Het;T>C	339;27|17	Hom;T>C	700;0|26
N	N	-	1	213168190	213168190	C	G	snp	UTR3	*193G>C	 	 	 	ANGEL2	Angel2	ENSG00000174606	angel homolog 2	chr1:213165524-213189168			 		GO:0045930;negative regulation of mitotic cell cycle;IMP|GO:0070935;3'-UTR-mediated mRNA stabilization;IMP	GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA	GO:0003730;mRNA 3'-UTR binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANGEL2				http://www.informatics.jax.org/searchtool/Search.do?query=ANGEL2&submit=Quick%0D%13552ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANGEL2	rs1045868	0.567492	0	0	1	0	0	UTR3	UTR3	UTR3	ANGEL2(NM_001300755:c.*193G>C,NM_001300757:c.*193G>C,NM_144567:c.*193G>C,NM_001300758:c.*193G>C,NM_001300753:c.*193G>C)	ANGEL2(uc010pto.2:c.*193G>C,uc001hjz.3:c.*193G>C,uc010ptp.2:c.*193G>C,uc001hka.3:c.*193G>C)	ENSG00000174606(ENST00000360506:c.*193G>C,ENST00000366962:c.*193G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	459;35|21	Hom;C>G	1966;0|67
N	N	-	1	213181916	213181916	T	C	snp	intronic	 	 	 	 	ANGEL2	Angel2	ENSG00000174606	angel homolog 2	chr1:213165524-213189168			 		GO:0045930;negative regulation of mitotic cell cycle;IMP|GO:0070935;3'-UTR-mediated mRNA stabilization;IMP	GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA	GO:0003730;mRNA 3'-UTR binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANGEL2				http://www.informatics.jax.org/searchtool/Search.do?query=ANGEL2&submit=Quick%0D%13552ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANGEL2	rs3002284	0.511581	0	0	1	0	0	intronic	intronic	intronic	ANGEL2	ANGEL2	ENSG00000174606	Na	Na	Na	Na	Na	Na	Het;T>C	274;5|10	Hom;T>C	313;0|8
N	N	-	1	213646106	213646106	A	T	snp	intergenic	 	 	 	 	RPL31P13																		rs320484	0.386781	0	0	1	0	0	intergenic	intergenic	intergenic	RPS6KC1(dist=199298),PROX1-AS1(dist=346878)	RPS6KC1(dist=199298),AK092251(dist=346872)	ENSG00000228646(dist=43686),ENSG00000225233(dist=19538)	Na	Na	Na	Na	Na	Na	Het;A>T	205;19|12	Hom;A>T	740;0|29
N	N	-	1	214491536	214491536	G	C	snp	intronic	 	 	 	 	SMYD2	Smyd2	ENSG00000143499	SET and MYND domain containing 2	chr1:214454445-214510474	SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]	Creatinine; Lipids; Celiac Disease|	Mice homozygous for a targeted allele exhibit increased circulating total and LDL cholesterol levels and decreased circulating sodium and chloride levels.	Regulation of TP53 Activity through Methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010452;histone H3-K36 methylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0018026;peptidyl-lysine monomethylation;IDA|GO:0018027;peptidyl-lysine dimethylation;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0043516;regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0000993;RNA polymerase II core binding;IEA|GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016278;lysine N-methyltransferase activity;TAS|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0046975;histone methyltransferase activity (H3-K36 specific);IEA	http://www.genecards.org/index.php?path=/Search/keyword/SMYD2	https://www.uniprot.org/uniprot/Q9NRG4		https://www.ncbi.nlm.nih.gov/omim/?term=610663	http://www.informatics.jax.org/searchtool/Search.do?query=SMYD2&submit=Quick%0D%8459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMYD2	rs55760458	0.191094	0.3071	0	1	0	0	intronic	intronic	intronic	SMYD2	SMYD2	ENSG00000143499	Na	Na	Na	Na	Na	Na	Het;G>C	186;13|9	Hom;G>C	531;0|20
N	N	-	1	214500907	214500907	A	C	snp	intronic	 	 	 	 	SMYD2	Smyd2	ENSG00000143499	SET and MYND domain containing 2	chr1:214454445-214510474	SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]	Creatinine; Lipids; Celiac Disease|	Mice homozygous for a targeted allele exhibit increased circulating total and LDL cholesterol levels and decreased circulating sodium and chloride levels.	Regulation of TP53 Activity through Methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010452;histone H3-K36 methylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0018026;peptidyl-lysine monomethylation;IDA|GO:0018027;peptidyl-lysine dimethylation;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0043516;regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0000993;RNA polymerase II core binding;IEA|GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016278;lysine N-methyltransferase activity;TAS|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0046975;histone methyltransferase activity (H3-K36 specific);IEA	http://www.genecards.org/index.php?path=/Search/keyword/SMYD2	https://www.uniprot.org/uniprot/Q9NRG4		https://www.ncbi.nlm.nih.gov/omim/?term=610663	http://www.informatics.jax.org/searchtool/Search.do?query=SMYD2&submit=Quick%0D%8459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMYD2	rs17022608	0.207069	0	0	1	0	0	intronic	intronic	intronic	SMYD2	SMYD2	ENSG00000143499	Na	Na	Na	Na	Na	Na	Het;A>C	577;24|28	Hom;A>C	965;0|32
N	N	-	1	214637882	214637882	A	G	snp	intronic	 	 	 	 	PTPN14	Ptpn14	ENSG00000152104	protein tyrosine phosphatase, non-receptor type 14	chr1:214522039-214725792	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]	Blood Flow Velocity; Blood Cells; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia.		GO:0001946;lymphangiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046825;regulation of protein export from nucleus;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA	GO:0003712;transcription cofactor activity;IMP|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0030971;receptor tyrosine kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPN14	https://www.uniprot.org/uniprot/Q15678	https://hpo.jax.org/app/browse/search?q=PTPN14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603155	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN14&submit=Quick%0D%9506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN14	rs7528315	0.826078	0	0	1	0	0	intronic	intronic	intronic	PTPN14	PTPN14	ENSG00000152104	Na	Na	Na	Na	Na	Na	Het;A>G	152;4|5	Hom;A>G	613;0|17
N	N	-	1	214638172	214638172	C	T	snp	UTR5	-66867G>A	 	 	 	PTPN14	Ptpn14	ENSG00000152104	protein tyrosine phosphatase, non-receptor type 14	chr1:214522039-214725792	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]	Blood Flow Velocity; Blood Cells; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia.		GO:0001946;lymphangiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046825;regulation of protein export from nucleus;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA	GO:0003712;transcription cofactor activity;IMP|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0030971;receptor tyrosine kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPN14	https://www.uniprot.org/uniprot/Q15678	https://hpo.jax.org/app/browse/search?q=PTPN14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603155	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN14&submit=Quick%0D%9506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN14	rs10864100	0.826078	0.8344	0.8081	1	0	0	UTR5	UTR5	UTR5	PTPN14(NM_005401:c.-26G>A)	PTPN14(uc021piy.1:c.-66867G>A,uc001hkk.2:c.-26G>A)	ENSG00000152104(ENST00000366956:c.-26G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	680;40|35	Hom;C>T	1766;0|66
N	N	-	1	214656413	214656413	T	C	snp	ncRNA_exonic	 	 	 	 	BC171896																		rs74407488	0	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	PTPN14	BC171896	ENSG00000213036	Na	Na	Na	Na	Na	Na	Het;T>C	2369;47|94	Hom;T>C	2722;9|96
N	N	-	1	215044768	215044768	C	G	snp	ncRNA_exonic	 	 	 	 	GAPDHP24																		rs869379	0.549121	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CENPF(dist=206854),KCNK2(dist=134117)	CENPF(dist=206854),KCNK2(dist=134117)	ENSG00000185221	Na	Na	Na	Na	Na	Na	Het;C>G	123;6|7	Hom;C>G	198;0|8
N	N	-	1	215345263	215345269	GTCTCTC	G	indel	intronic	 	 	 	 	KCNK2	Kcnk2	ENSG00000082482	potassium two pore domain channel subfamily K member 2	chr1:215179118-215410436	This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	antidepressant response; smoking cessation; Lipids; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis; Migraine without Aura; depression; Triglycerides; major depressive disorder	Homozygous null mice display increased sensitivity to pharmacologically induced seizures and ischemia.	Phase 4 - resting membrane potential	GO:0003231;cardiac ventricle development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007613;memory;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0048678;response to axon injury;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0090102;cochlea development;IEA|GO:1900039;positive regulation of cellular response to hypoxia;IEA|GO:2000279;negative regulation of DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030424;axon;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043679;axon terminus;IEA|GO:0044305;calyx of Held;IEA|GO:0097449;astrocyte projection;IEA	GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0015271;outward rectifier potassium channel activity;IEA|GO:0022841;potassium ion leak channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNK2	https://www.uniprot.org/uniprot/O95069		https://www.ncbi.nlm.nih.gov/omim/?term=603219	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK2&submit=Quick%0D%1803ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK2	rs3834061	0	0	0	1	0	0	intronic	intronic	intronic	KCNK2	KCNK2	ENSG00000082482	Na	Na	Na	Na	Na	Na	Het;-TCTCTC	80;3|3	Hom;-TCTCTC	212;0|6
N	N	-	1	215848641	215848641	T	C	snp	synonymous SNV	A12612G	T4204T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	USH2A	Ush2a	ENSG00000042781	usherin	chr1:215796236-216596738	This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Hemoglobins; Hip; recessive retinitis pigmentosa; Blindness|Retinitis Pigmentosa; Retinitis Pigmentosa; Glucose; Usher Syndromes; smoking cessation; Body Height; hearing loss/deafness; retinal disease; Erythrocyte Count; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; Apolipoproteins C; usher syndrome; Retinal Diseases; Monocytes; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; retinitis pigmentosa; Usher syndrome; Prostatic Neoplasms; Tobacco Use Disorder	Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.		GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IMP|GO:0035315;hair cell differentiation;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0060113;inner ear receptor cell differentiation;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0002141;stereocilia ankle link;IEA|GO:0002142;stereocilia ankle link complex;IEA|GO:0005576;extracellular region;IEA|GO:0005604;basement membrane;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060171;stereocilium membrane;IEA|GO:1990075;periciliary membrane compartment;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0017022;myosin binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USH2A	https://www.uniprot.org/uniprot/O75445	https://hpo.jax.org/app/browse/search?q=USH2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608400	http://www.informatics.jax.org/searchtool/Search.do?query=USH2A&submit=Quick%0D%838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USH2A	rs2797235	0.689696	0.7544	0.7662	1	0	0	exonic	exonic	exonic	USH2A	USH2A	ENSG00000042781	synonymous SNV	synonymous SNV	unknown	USH2A:NM_206933:exon63:c.A12612G:p.T4204T,	USH2A:uc001hku.1:exon63:c.A12612G:p.T4204T,	UNKNOWN	Het;T>C	2088;111|94	Hom;T>C	5486;1|200
N	N	-	1	215916713	215916713	C	CAT	indel	intronic	 	 	 	 	USH2A	Ush2a	ENSG00000042781	usherin	chr1:215796236-216596738	This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Hemoglobins; Hip; recessive retinitis pigmentosa; Blindness|Retinitis Pigmentosa; Retinitis Pigmentosa; Glucose; Usher Syndromes; smoking cessation; Body Height; hearing loss/deafness; retinal disease; Erythrocyte Count; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; Apolipoproteins C; usher syndrome; Retinal Diseases; Monocytes; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; retinitis pigmentosa; Usher syndrome; Prostatic Neoplasms; Tobacco Use Disorder	Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.		GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IMP|GO:0035315;hair cell differentiation;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0060113;inner ear receptor cell differentiation;IEA	GO:0001917;photoreceptor inner segment;IEA|GO:0002141;stereocilia ankle link;IEA|GO:0002142;stereocilia ankle link complex;IEA|GO:0005576;extracellular region;IEA|GO:0005604;basement membrane;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060171;stereocilium membrane;IEA|GO:1990075;periciliary membrane compartment;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0017022;myosin binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USH2A	https://www.uniprot.org/uniprot/O75445	https://hpo.jax.org/app/browse/search?q=USH2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608400	http://www.informatics.jax.org/searchtool/Search.do?query=USH2A&submit=Quick%0D%838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USH2A	rs376081393	0	0.6954	0.1368	1	0	0	intronic	intronic	intronic	USH2A	USH2A	ENSG00000042781	Na	Na	Na	Na	Na	Na	Het;+AT	224;11|9	Hom;+AT	340;0|12
N	N	-	1	216246675	216246676	AG	A	indel	ncRNA_intronic	 	 	 	 	LOC102723833																		rs35944387	0.78734	0.7085	0.7320	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC102723833	USH2A	ENSG00000233620	Na	Na	Na	Na	Na	Na	Het;-G	1160;28|41	Hom;-G	2268;0|67
N	N	-	1	217196776	217196776	A	G	snp	intronic	 	 	 	 	ESRRG	Esrrg	ENSG00000196482	estrogen related receptor gamma	chr1:216676588-217311097	This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]	Triglycerides; breast cancer ; Diabetes Mellitus, Type 2; gamma-Glutamylcyclotransferase; Eye; Bone Phenotypes; Creatinine; colorectal cancer; Tobacco Use Disorder; Occipital Lobe; Body Height; Cardiomegaly; Echocardiography; Cholesterol, HDL	Nullizygous mutations lead to postnatal lethality. Homozygotes for a null allele show reduced birth weight, fasting hyperlactatemia, altered electrocardiograms and mitochondrial function, and agenesis of the renal papilla. Surviving homozygotes for a different null allele exhibit hearing loss.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;IEA|GO:0005496;steroid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050682;AF-2 domain binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ESRRG			https://www.ncbi.nlm.nih.gov/omim/?term=602969	http://www.informatics.jax.org/searchtool/Search.do?query=ESRRG&submit=Quick%0D%16380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESRRG	rs1934123	0.441094	0	0	1	0	0	intronic	intronic	intronic	ESRRG	ESRRG	ENSG00000196482	Na	Na	Na	Na	Na	Na	Het;A>G	265;10|12	Hom;A>G	654;0|21
N	N	-	1	217396532	217396534	GTT	G	indel	intergenic	 	 	 	 	ESRRG	Esrrg	ENSG00000196482	estrogen related receptor gamma	chr1:216676588-217311097	This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]	Triglycerides; breast cancer ; Diabetes Mellitus, Type 2; gamma-Glutamylcyclotransferase; Eye; Bone Phenotypes; Creatinine; colorectal cancer; Tobacco Use Disorder; Occipital Lobe; Body Height; Cardiomegaly; Echocardiography; Cholesterol, HDL	Nullizygous mutations lead to postnatal lethality. Homozygotes for a null allele show reduced birth weight, fasting hyperlactatemia, altered electrocardiograms and mitochondrial function, and agenesis of the renal papilla. Surviving homozygotes for a different null allele exhibit hearing loss.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;IEA|GO:0005496;steroid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050682;AF-2 domain binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ESRRG			https://www.ncbi.nlm.nih.gov/omim/?term=602969	http://www.informatics.jax.org/searchtool/Search.do?query=ESRRG&submit=Quick%0D%16380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESRRG	rs56666321	0	0	0	1	0	0	intergenic	intergenic	intergenic	ESRRG(dist=85435),GPATCH2(dist=203801)	ESRRG(dist=85435),GPATCH2(dist=207300)	ENSG00000196482(dist=85435),ENSG00000092978(dist=203800)	Na	Na	Na	Na	Na	Na	Het;-TT	128;2|6	Hom;-TT	100;0|4
N	N	-	1	217396792	217396792	C	A	snp	intergenic	 	 	 	 	ESRRG	Esrrg	ENSG00000196482	estrogen related receptor gamma	chr1:216676588-217311097	This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]	Triglycerides; breast cancer ; Diabetes Mellitus, Type 2; gamma-Glutamylcyclotransferase; Eye; Bone Phenotypes; Creatinine; colorectal cancer; Tobacco Use Disorder; Occipital Lobe; Body Height; Cardiomegaly; Echocardiography; Cholesterol, HDL	Nullizygous mutations lead to postnatal lethality. Homozygotes for a null allele show reduced birth weight, fasting hyperlactatemia, altered electrocardiograms and mitochondrial function, and agenesis of the renal papilla. Surviving homozygotes for a different null allele exhibit hearing loss.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;IEA|GO:0005496;steroid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050682;AF-2 domain binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ESRRG			https://www.ncbi.nlm.nih.gov/omim/?term=602969	http://www.informatics.jax.org/searchtool/Search.do?query=ESRRG&submit=Quick%0D%16380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESRRG	rs11117808	0.638179	0	0	1	0	0	intergenic	intergenic	intergenic	ESRRG(dist=85695),GPATCH2(dist=203543)	ESRRG(dist=85695),GPATCH2(dist=207042)	ENSG00000196482(dist=85695),ENSG00000092978(dist=203542)	Na	Na	Na	Na	Na	Na	Het;C>A	263;6|11	Hom;C>A	488;0|19
N	N	-	1	21791694	21791694	G	A	snp	intronic	 	 	 	 	NBPF3	 	ENSG00000142794	NBPF member 3	chr1:21766621-21811498	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]	plasma levels of liver enzymes; Metabolism; Phosphorus; Alkaline Phosphatase; Triglycerides; Vitamin B 6	 		GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF3	https://www.uniprot.org/uniprot/Q9H094		https://www.ncbi.nlm.nih.gov/omim/?term=612992	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF3&submit=Quick%0D%8335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF3	rs4654941	0	0	0	1	0	0	intronic	intronic	intronic	NBPF3	NBPF3	ENSG00000142794	Na	Na	Na	Na	Na	Na	Het;G>A	250;28|15	Hom;G>A	107;0|5
N	N	-	1	21808207	21808207	A	C	snp	synonymous SNV	A1341C	G447G	aliphatic,neutral	aliphatic,neutral	NBPF3	 	ENSG00000142794	NBPF member 3	chr1:21766621-21811498	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]	plasma levels of liver enzymes; Metabolism; Phosphorus; Alkaline Phosphatase; Triglycerides; Vitamin B 6	 		GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF3	https://www.uniprot.org/uniprot/Q9H094		https://www.ncbi.nlm.nih.gov/omim/?term=612992	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF3&submit=Quick%0D%8335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF3	rs61779178	0	0	0.4490	1	0	0	exonic	exonic	exonic	NBPF3	NBPF3	ENSG00000142794	synonymous SNV	synonymous SNV	synonymous SNV	NBPF3:NM_001256416:exon13:c.A1515C:p.G505G,NBPF3:NM_001256417:exon12:c.A1341C:p.G447G,NBPF3:NM_032264:exon13:c.A1551C:p.G517G,	NBPF3:uc010odm.3:exon12:c.A1341C:p.G447G,NBPF3:uc001bes.4:exon16:c.A1383C:p.G461G,NBPF3:uc001ber.4:exon13:c.A1551C:p.G517G,NBPF3:uc009vqb.4:exon13:c.A1515C:p.G505G,	ENSG00000142794:ENST00000318249:exon13:c.A1551C:p.G517G,ENSG00000142794:ENST00000454000:exon12:c.A1341C:p.G447G,ENSG00000142794:ENST00000434838:exon17:c.A1383C:p.G461G,ENSG00000142794:ENST00000318220:exon16:c.A1383C:p.G461G,ENSG00000142794:ENST00000342104:exon13:c.A1515C:p.G505G,	Het;A>C	237;4|9	Hom;A>C	491;0|19
N	N	-	1	21808223	21808223	T	C	snp	synonymous SNV	T1357C	L453L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NBPF3	 	ENSG00000142794	NBPF member 3	chr1:21766621-21811498	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]	plasma levels of liver enzymes; Metabolism; Phosphorus; Alkaline Phosphatase; Triglycerides; Vitamin B 6	 		GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF3	https://www.uniprot.org/uniprot/Q9H094		https://www.ncbi.nlm.nih.gov/omim/?term=612992	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF3&submit=Quick%0D%8335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF3	rs145079058	0	0	0.4252	1	0	0	exonic	exonic	exonic	NBPF3	NBPF3	ENSG00000142794	synonymous SNV	synonymous SNV	synonymous SNV	NBPF3:NM_001256416:exon13:c.T1531C:p.L511L,NBPF3:NM_001256417:exon12:c.T1357C:p.L453L,NBPF3:NM_032264:exon13:c.T1567C:p.L523L,	NBPF3:uc010odm.3:exon12:c.T1357C:p.L453L,NBPF3:uc001bes.4:exon16:c.T1399C:p.L467L,NBPF3:uc001ber.4:exon13:c.T1567C:p.L523L,NBPF3:uc009vqb.4:exon13:c.T1531C:p.L511L,	ENSG00000142794:ENST00000318249:exon13:c.T1567C:p.L523L,ENSG00000142794:ENST00000454000:exon12:c.T1357C:p.L453L,ENSG00000142794:ENST00000434838:exon17:c.T1399C:p.L467L,ENSG00000142794:ENST00000318220:exon16:c.T1399C:p.L467L,ENSG00000142794:ENST00000342104:exon13:c.T1531C:p.L511L,	Het;T>C	146;4|5	Hom;T>C	435;0|17
N	N	-	1	218091648	218091648	T	A	snp	ncRNA_splicing	 	 	 	 	LINC00210																		rs17740800	0.583866	0	0	1	0	0	ncRNA_splicing	ncRNA_splicing	ncRNA_splicing	LINC00210(NR_048550:exon3:c.363+2T>A)	LINC00210(uc031psc.1:exon3:c.363+2T>A)	ENSG00000231814(ENST00000431637:exon3:c.363+2T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	520;35|28	Hom;T>A	1784;0|68
N	N	-	1	218093252	218093252	C	G	snp	ncRNA_exonic	 	 	 	 	LINC00210																		rs6664994	0.521166	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00210	LINC00210	ENSG00000231814	Na	Na	Na	Na	Na	Na	Het;C>G	1347;57|58	Hom;C>G	3356;0|120
N	N	-	1	218094151	218094151	G	A	snp	downstream	 	 	 	 	LINC00210																		rs6604568	0.640775	0	0	1	0	0	downstream	downstream	downstream	LINC00210	LINC00210	ENSG00000231814	Na	Na	Na	Na	Na	Na	Het;G>A	470;26|25	Hom;G>A	1575;0|63
N	N	-	1	21810586	21810586	C	T	snp	UTR3	*707C>T	 	 	 	NBPF3	 	ENSG00000142794	NBPF member 3	chr1:21766621-21811498	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]	plasma levels of liver enzymes; Metabolism; Phosphorus; Alkaline Phosphatase; Triglycerides; Vitamin B 6	 		GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF3	https://www.uniprot.org/uniprot/Q9H094		https://www.ncbi.nlm.nih.gov/omim/?term=612992	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF3&submit=Quick%0D%8335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF3	rs78156905	0.566094	0	0	1	0	0	UTR3	UTR3	UTR3	NBPF3(NM_032264:c.*707C>T,NM_001256417:c.*707C>T,NM_001256416:c.*707C>T)	NBPF3(uc001bes.4:c.*707C>T,uc001ber.4:c.*707C>T,uc009vqb.4:c.*707C>T,uc010odm.3:c.*707C>T)	ENSG00000142794(ENST00000318220:c.*707C>T,ENST00000318249:c.*707C>T,ENST00000342104:c.*707C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1165;2|29	Hom;C>T	1821;0|42
N	N	-	1	21810587	21810587	A	G	snp	UTR3	*708A>G	 	 	 	NBPF3	 	ENSG00000142794	NBPF member 3	chr1:21766621-21811498	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]	plasma levels of liver enzymes; Metabolism; Phosphorus; Alkaline Phosphatase; Triglycerides; Vitamin B 6	 		GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF3	https://www.uniprot.org/uniprot/Q9H094		https://www.ncbi.nlm.nih.gov/omim/?term=612992	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF3&submit=Quick%0D%8335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF3	rs3010180	0.596046	0	0	1	0	0	UTR3	UTR3	UTR3	NBPF3(NM_032264:c.*708A>G,NM_001256417:c.*708A>G,NM_001256416:c.*708A>G)	NBPF3(uc001bes.4:c.*708A>G,uc001ber.4:c.*708A>G,uc009vqb.4:c.*708A>G,uc010odm.3:c.*708A>G)	ENSG00000142794(ENST00000318220:c.*708A>G,ENST00000318249:c.*708A>G,ENST00000342104:c.*708A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1165;2|28	Hom;A>G	1821;0|40
N	N	-	1	21845550	21845550	C	T	snp	intronic	 	 	 	 	ALPL	Alpl	ENSG00000162551	alkaline phosphatase, liver/bone/kidney	chr1:21835858-21904905	This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]	Tobacco Use Disorder; infantile hypophosphatasia; folate pathway vitamin levels; ankylosing spondylitis; osteoporosis, postmenopausal; plasma levels of liver enzymes; Bone Mineral Density; hypophosphatasia; arthropathy, peripheral; Alzheimer's disease ; Tunica Media; null; Hypophosphatasia; bone density; chondrocalcinosis; Fractures, Bone|; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; obesity; Chronic renal failure|Kidney Failure, Chronic; liver enzymes	Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0001501;skeletal system development;TAS|GO:0001649;osteoblast differentiation;IDA|GO:0001958;endochondral ossification;IEA|GO:0003006;developmental process involved in reproduction;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0008152;metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0031214;biomineral tissue development;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033280;response to vitamin D;IEP|GO:0046677;response to antibiotic;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071529;cementum mineralization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0065010;extracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004035;alkaline phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016462;pyrophosphatase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALPL		https://hpo.jax.org/app/browse/search?q=ALPL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=171760	http://www.informatics.jax.org/searchtool/Search.do?query=ALPL&submit=Quick%0D%10729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALPL	rs10917003	0.303315	0	0	1	0	0	intronic	intronic	intronic	ALPL	ALPL	ENSG00000162551	Na	Na	Na	Na	Na	Na	Het;C>T	260;28|16	Hom;C>T	996;0|39
N	N	-	1	21845773	21845773	T	C	snp	intronic	 	 	 	 	ALPL	Alpl	ENSG00000162551	alkaline phosphatase, liver/bone/kidney	chr1:21835858-21904905	This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]	Tobacco Use Disorder; infantile hypophosphatasia; folate pathway vitamin levels; ankylosing spondylitis; osteoporosis, postmenopausal; plasma levels of liver enzymes; Bone Mineral Density; hypophosphatasia; arthropathy, peripheral; Alzheimer's disease ; Tunica Media; null; Hypophosphatasia; bone density; chondrocalcinosis; Fractures, Bone|; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; obesity; Chronic renal failure|Kidney Failure, Chronic; liver enzymes	Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0001501;skeletal system development;TAS|GO:0001649;osteoblast differentiation;IDA|GO:0001958;endochondral ossification;IEA|GO:0003006;developmental process involved in reproduction;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0008152;metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0031214;biomineral tissue development;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033280;response to vitamin D;IEP|GO:0046677;response to antibiotic;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071529;cementum mineralization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0065010;extracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004035;alkaline phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016462;pyrophosphatase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALPL		https://hpo.jax.org/app/browse/search?q=ALPL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=171760	http://www.informatics.jax.org/searchtool/Search.do?query=ALPL&submit=Quick%0D%10729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALPL	rs2800773	0.699081	0	0	1	0	0	intronic	intronic	intronic	ALPL	ALPL	ENSG00000162551	Na	Na	Na	Na	Na	Na	Het;T>C	236;3|7	Hom;T>C	175;0|5
N	N	-	1	218857079	218857079	G	GT	indel	ncRNA_exonic	 	 	 	 	MIR548F3																		rs141481248	0.0521166	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	MIR548F3	TGFB2(dist=239118),LOC643723(dist=397238)	ENSG00000212610(dist=141838),ENSG00000226693(dist=197863)	Na	Na	Na	Na	Na	Na	Het;+T	964;46|43	Hom;+T	2099;1|74
N	N	-	1	218857137	218857137	A	AAGAC	indel	ncRNA_intronic	 	 	 	 	MIR548F3																		rs112905886	0.522764	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	MIR548F3	TGFB2(dist=239176),LOC643723(dist=397180)	ENSG00000212610(dist=141896),ENSG00000226693(dist=197805)	Na	Na	Na	Na	Na	Na	Het;+AGAC	1445;38|39	Hom;+AGAC	2420;0|56
N	N	-	1	218907032	218907032	A	G	snp	ncRNA_intronic	 	 	 	 	MIR548F3																		rs4846505	0.621605	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	MIR548F3	TGFB2(dist=289071),LOC643723(dist=347285)	ENSG00000212610(dist=191791),ENSG00000226693(dist=147910)	Na	Na	Na	Na	Na	Na	Het;A>G	107;9|6	Hom;A>G	695;0|21
N	N	-	1	218907204	218907204	T	C	snp	ncRNA_intronic	 	 	 	 	MIR548F3																		rs957521	0.736422	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	MIR548F3	TGFB2(dist=289243),LOC643723(dist=347113)	ENSG00000212610(dist=191963),ENSG00000226693(dist=147738)	Na	Na	Na	Na	Na	Na	Het;T>C	456;25|24	Hom;T>C	1000;0|35
N	N	-	1	220275378	220275378	G	A	snp	ncRNA_intronic	 	 	 	 	RNU5F-1																		rs2789788	0.514776	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	RNU5F-1	RNU5F-1	ENSG00000067704	Na	Na	Na	Na	Na	Na	Het;G>A	118;3|5	Hom;G>A	429;1|15
N	N	-	1	220406291	220406291	A	G	snp	intronic	 	 	 	 	RAB3GAP2	Rab3gap2	ENSG00000118873	RAB3 GTPase activating non-catalytic protein subunit 2	chr1:220321635-220445796	The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]	Abdominal Fat; C-Reactive Protein; Body Mass Index; Body Weight; Cholesterol, HDL	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006886;intracellular protein transport;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043087;regulation of GTPase activity;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097051;establishment of protein localization to endoplasmic reticulum membrane;IMP|GO:1903061;positive regulation of protein lipidation;IMP|GO:1903373;positive regulation of endoplasmic reticulum tubular network organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0043234;protein complex;IDA	GO:0005096;GTPase activator activity;TAS|GO:0008047;enzyme activator activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IMP|GO:0017137;Rab GTPase binding;IPI|GO:0030234;enzyme regulator activity;ISS|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RAB3GAP2	https://www.uniprot.org/uniprot/Q9H2M9	https://hpo.jax.org/app/browse/search?q=RAB3GAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609275	http://www.informatics.jax.org/searchtool/Search.do?query=RAB3GAP2&submit=Quick%0D%5014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3GAP2	rs10863538	0.500799	0	0	1	0	0	intronic	intronic	intronic	RAB3GAP2	RAB3GAP2	ENSG00000118873	Na	Na	Na	Na	Na	Na	Het;A>G	401;7|15	Hom;A>G	436;0|12
N	N	-	1	220440885	220440885	C	CT	indel	ncRNA_exonic	 	 	 	 	AURKAPS1																		rs34147613	0.496206	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	AURKAPS1	AURKAPS1	ENSG00000213033	Na	Na	Na	Na	Na	Na	Het;+T	1708;104|74	Hom;+T	4395;0|144
N	N	-	1	220789355	220789356	AT	A	indel	intronic	 	 	 	 	MARK1	Mark1	ENSG00000116141	microtubule affinity regulating kinase 1	chr1:220701568-220837803		Autism; Body Mass Index; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit no obvious defects in lung epithelium morphology or apical cytoskeletal organization.		GO:0000226;microtubule cytoskeleton organization;IEA|GO:0001764;neuron migration;ISS|GO:0006468;protein phosphorylation;TAS|GO:0007010;cytoskeleton organization;ISS|GO:0016055;Wnt signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0030010;establishment of cell polarity;IEA|GO:0035556;intracellular signal transduction;IDA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015630;microtubule cytoskeleton;TAS|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001786;phosphatidylserine binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005524;ATP binding;IDA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050321;tau-protein kinase activity;IEA|GO:0070300;phosphatidic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MARK1	https://www.uniprot.org/uniprot/Q9P0L2		https://www.ncbi.nlm.nih.gov/omim/?term=606511	http://www.informatics.jax.org/searchtool/Search.do?query=MARK1&submit=Quick%0D%4709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARK1	rs369680057	0	0	0.3000	1	0	0	intronic	intronic	intronic	MARK1	MARK1	ENSG00000116141	Na	Na	Na	Na	Na	Na	Het;-T	523;42|33	Hom;-T	1215;6|62
N	N	-	1	220921945	220921945	G	C	snp	synonymous SNV	G72C	G24G	aliphatic,neutral	aliphatic,neutral	MARC2	Marc2	ENSG00000117791	mitochondrial amidoxime reducing component 2	chr1:220921567-220958150	The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]	response to antipsychotic therapy (extrapyramidal side effects); Acquired Immunodeficiency Syndrome|Disease Progression; Disease; Cornea; Tobacco Use Disorder	 	Phase I - Functionalization of compounds	GO:0006805;xenobiotic metabolic process;TAS|GO:0042126;nitrate metabolic process;IDA|GO:0051410;detoxification of nitrogen compound;NAS|GO:0055114;oxidation-reduction process;IDA	GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005777;peroxisome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0008940;nitrate reductase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0030151;molybdenum ion binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0043546;molybdopterin cofactor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MARC2	https://www.uniprot.org/uniprot/Q969Z3		https://www.ncbi.nlm.nih.gov/omim/?term=614127	http://www.informatics.jax.org/searchtool/Search.do?query=MARC2&submit=Quick%0D%4924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARC2	rs337188	0.206869	0.0765	0.2272	1	0	0	exonic	exonic	exonic	MARC2	MARC2	ENSG00000117791	synonymous SNV	synonymous SNV	unknown	MARC2:NM_017898:exon1:c.G72C:p.G24G,	MARC2:uc001hmr.3:exon1:c.G72C:p.G24G,MARC2:uc001hmq.3:exon1:c.G72C:p.G24G,MARC2:uc009xdx.3:exon1:c.G72C:p.G24G,	UNKNOWN	Het;G>C	44;5|4	Hom;G>C	426;0|16
N	N	-	1	220935081	220935081	G	A	snp	synonymous SNV	G528A	A176A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MARC2	Marc2	ENSG00000117791	mitochondrial amidoxime reducing component 2	chr1:220921567-220958150	The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]	response to antipsychotic therapy (extrapyramidal side effects); Acquired Immunodeficiency Syndrome|Disease Progression; Disease; Cornea; Tobacco Use Disorder	 	Phase I - Functionalization of compounds	GO:0006805;xenobiotic metabolic process;TAS|GO:0042126;nitrate metabolic process;IDA|GO:0051410;detoxification of nitrogen compound;NAS|GO:0055114;oxidation-reduction process;IDA	GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005777;peroxisome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0008940;nitrate reductase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0030151;molybdenum ion binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0043546;molybdopterin cofactor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MARC2	https://www.uniprot.org/uniprot/Q969Z3		https://www.ncbi.nlm.nih.gov/omim/?term=614127	http://www.informatics.jax.org/searchtool/Search.do?query=MARC2&submit=Quick%0D%4924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARC2	rs2275575	0.208067	0.1460	0.1928	1	0	0	exonic	exonic	exonic	MARC2	MARC2	ENSG00000117791	synonymous SNV	synonymous SNV	unknown	MARC2:NM_017898:exon3:c.G528A:p.A176A,	MARC2:uc001hmr.3:exon3:c.G528A:p.A176A,MARC2:uc001hmq.3:exon3:c.G528A:p.A176A,MARC2:uc009xdx.3:exon3:c.G528A:p.A176A,	UNKNOWN	Het;G>A	919;69|50	Hom;G>A	3713;2|148
N	N	-	1	221509682	221509682	C	CT	indel	upstream	 	 	 	 	C1orf140																		rs397754419	0.424521	0	0	1	0	0	upstream	upstream	upstream	C1orf140	C1orf140	ENSG00000234754	Na	Na	Na	Na	Na	Na	Het;+T	521;34|33	Hom;+T	1409;7|68
N	N	-	1	22168216	22168216	C	T	snp	intronic	 	 	 	 	HSPG2	Hspg2	ENSG00000142798	heparan sulfate proteoglycan 2	chr1:22148738-22263790	This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	Intracranial Aneurysm; Alzheimer's disease; Nephrolithiasis; diabetes, type 1; Spinal Muscular Atrophies of Childhood; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's Disease; periodontitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; abdominal aortic aneurysm; Alzheimer's disease ; Dyskinesia, Drug-Induced; mitral valve prolapse	Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.	Amyloid fiber formation	GO:0001523;retinoid metabolic process;TAS|GO:0001525;angiogenesis;IEA|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPG2	https://www.uniprot.org/uniprot/P98160	https://hpo.jax.org/app/browse/search?q=HSPG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142461	http://www.informatics.jax.org/searchtool/Search.do?query=HSPG2&submit=Quick%0D%8336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPG2	rs7556412	0.623802	0.6071	0.6516	1	0	0	intronic	intronic	intronic	HSPG2	HSPG2	ENSG00000142798	Na	Na	Na	Na	Na	Na	Het;C>T	1923;98|94	Hom;C>T	3657;0|134
N	N	-	1	221958189	221958189	C	T	snp	intergenic	 	 	 	 	DUSP10	Dusp10	ENSG00000143507	dual specificity phosphatase 10	chr1:221874766-221915518	Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	Tobacco Use Disorder; Colorectal Neoplasms; Keloid; Supranuclear Palsy, Progressive; Prostatic Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Asthma	Mice homozygous for a knock-out allele display alterations in both innate and adaptive immune responses.	Negative regulation of MAPK pathway	GO:0000188;inactivation of MAPK activity;IDA|GO:0002819;regulation of adaptive immune response;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006950;response to stress;TAS|GO:0007254;JNK cascade;TAS|GO:0010033;response to organic substance;IEA|GO:0016311;dephosphorylation;IDA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032873;negative regulation of stress-activated MAPK cascade;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IEA|GO:0045088;regulation of innate immune response;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IMP|GO:0046329;negative regulation of JNK cascade;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0060266;negative regulation of respiratory burst involved in inflammatory response;IEA|GO:0090335;regulation of brown fat cell differentiation;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0004721;phosphoprotein phosphatase activity;TAS|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0017017;MAP kinase tyrosine/serine/threonine phosphatase activity;IEA|GO:0033549;MAP kinase phosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DUSP10	https://www.uniprot.org/uniprot/Q9Y6W6		https://www.ncbi.nlm.nih.gov/omim/?term=608867	http://www.informatics.jax.org/searchtool/Search.do?query=DUSP10&submit=Quick%0D%8461ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP10	rs4240927	0.50639	0	0	1	0	0	intergenic	intergenic	intergenic	DUSP10(dist=42671),LOC101929771(dist=42819)	DUSP10(dist=42673),TRNA_Thr(dist=680158)	ENSG00000143507(dist=42671),ENSG00000227925(dist=42819)	Na	Na	Na	Na	Na	Na	Het;C>T	369;5|16	Hom;C>T	671;0|26
N	N	-	1	22199245	22199245	C	T	snp	synonymous SNV	G3897A	V1299V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HSPG2	Hspg2	ENSG00000142798	heparan sulfate proteoglycan 2	chr1:22148738-22263790	This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	Intracranial Aneurysm; Alzheimer's disease; Nephrolithiasis; diabetes, type 1; Spinal Muscular Atrophies of Childhood; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's Disease; periodontitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; abdominal aortic aneurysm; Alzheimer's disease ; Dyskinesia, Drug-Induced; mitral valve prolapse	Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.	Amyloid fiber formation	GO:0001523;retinoid metabolic process;TAS|GO:0001525;angiogenesis;IEA|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPG2	https://www.uniprot.org/uniprot/P98160	https://hpo.jax.org/app/browse/search?q=HSPG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142461	http://www.informatics.jax.org/searchtool/Search.do?query=HSPG2&submit=Quick%0D%8336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPG2	rs2229482	0.42492	0.5247	0.6066	1	0	0	exonic	exonic	exonic	HSPG2	HSPG2	ENSG00000142798	synonymous SNV	synonymous SNV	synonymous SNV	HSPG2:NM_005529:exon32:c.G3897A:p.V1299V,HSPG2:NM_001291860:exon32:c.G3900A:p.V1300V,	HSPG2:uc001bfj.3:exon32:c.G3897A:p.V1299V,HSPG2:uc009vqd.3:exon32:c.G3900A:p.V1300V,	ENSG00000142798:ENST00000374695:exon32:c.G3897A:p.V1299V,	Het;C>T	738;31|37	Hom;C>T	1475;0|59
N	N	-	1	22199821	22199821	G	A	snp	intronic	 	 	 	 	HSPG2	Hspg2	ENSG00000142798	heparan sulfate proteoglycan 2	chr1:22148738-22263790	This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	Intracranial Aneurysm; Alzheimer's disease; Nephrolithiasis; diabetes, type 1; Spinal Muscular Atrophies of Childhood; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's Disease; periodontitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; abdominal aortic aneurysm; Alzheimer's disease ; Dyskinesia, Drug-Induced; mitral valve prolapse	Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.	Amyloid fiber formation	GO:0001523;retinoid metabolic process;TAS|GO:0001525;angiogenesis;IEA|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPG2	https://www.uniprot.org/uniprot/P98160	https://hpo.jax.org/app/browse/search?q=HSPG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142461	http://www.informatics.jax.org/searchtool/Search.do?query=HSPG2&submit=Quick%0D%8336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPG2	rs2454290	0.742013	0.7333	0.8192	1	0	0	intronic	intronic	intronic	HSPG2	HSPG2	ENSG00000142798	Na	Na	Na	Na	Na	Na	Het;G>A	184;20|10	Hom;G>A	744;0|28
N	N	-	1	222302072	222302072	T	C	snp	ncRNA_intronic	 	 	 	 	AL356108.1																		rs1845724	0.23103	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101929771(dist=288064),HHIPL2(dist=393530)	DUSP10(dist=386556),TRNA_Thr(dist=336275)	ENSG00000236230	Na	Na	Na	Na	Na	Na	Het;T>C	61;10|4	Hom;T>C	432;0|16
N	N	-	1	222642096	222642096	T	G	snp	ncRNA_exonic	 	 	 	 	CICP13																		rs61824106	0.720248	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101929771(dist=628088),HHIPL2(dist=53506)	TRNA_Thr(dist=3677),DQ587965(dist=3914)	ENSG00000234419	Na	Na	Na	Na	Na	Na	Het;T>G	274;27|13	Hom;T>G	1232;0|28
N	N	-	1	222643352	222643353	AT	A	indel	ncRNA_exonic	 	 	 	 	CICP13																		rs71175162	0.851837	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101929771(dist=629344),HHIPL2(dist=52249)	TRNA_Thr(dist=4933),DQ587965(dist=2657)	ENSG00000234419	Na	Na	Na	Na	Na	Na	Het;-T	631;55|25	Hom;-T	2260;0|63
N	N	-	1	222645371	222645371	C	T	snp	downstream	 	 	 	 	DQ587965																		rs35913230	0.55012	0	0	1	0	0	intergenic	downstream	intergenic	LOC101929771(dist=631363),HHIPL2(dist=50231)	DQ587965	ENSG00000234419(dist=1147),ENSG00000222399(dist=31603)	Na	Na	Na	Na	Na	Na	Het;C>T	2878;152|137	Hom;C>T	7094;0|265
N	N	-	1	222646973	222646973	G	A	snp	upstream;downstream	 	 	 	 	DQ573170																		rs34340043	0.491613	0	0	1	0	0	intergenic	upstream;downstream	intergenic	LOC101929771(dist=632965),HHIPL2(dist=48629)	DQ573170,DQ576410,DQ587965;DQ584993	ENSG00000234419(dist=2749),ENSG00000222399(dist=30001)	Na	Na	Na	Na	Na	Na	Het;G>A	1377;32|54	Hom;G>A	2931;0|69
N	N	-	1	222647806	222647806	T	C	snp	upstream;downstream	 	 	 	 	DQ576410																		rs35583094	0.874601	0	0	1	0	0	intergenic	upstream;downstream	intergenic	LOC101929771(dist=633798),HHIPL2(dist=47796)	DQ576410,DQ584993;DQ575983,DQ584971,DQ597892	ENSG00000234419(dist=3582),ENSG00000222399(dist=29168)	Na	Na	Na	Na	Na	Na	Het;T>C	948;45|36	Hom;T>C	2168;0|73
N	N	-	1	222647875	222647875	C	T	snp	upstream;downstream	 	 	 	 	DQ584993																		rs61824116	0.550919	0	0	1	0	0	intergenic	upstream;downstream	intergenic	LOC101929771(dist=633867),HHIPL2(dist=47727)	DQ584993;DQ575983,DQ584971,DQ597892	ENSG00000234419(dist=3651),ENSG00000222399(dist=29099)	Na	Na	Na	Na	Na	Na	Het;C>T	841;35|36	Hom;C>T	1700;0|56
N	N	-	1	222648295	222648295	C	T	snp	upstream;downstream	 	 	 	 	DQ584993																		rs61824117	0.553315	0	0	1	0	0	intergenic	upstream;downstream	intergenic	LOC101929771(dist=634287),HHIPL2(dist=47307)	DQ584993;DQ574659,DQ575983,DQ584609,DQ584971,DQ597892	ENSG00000234419(dist=4071),ENSG00000222399(dist=28679)	Na	Na	Na	Na	Na	Na	Het;C>T	1052;37|50	Hom;C>T	1285;1|50
N	N	-	1	222721288	222721288	C	T	snp	synonymous SNV	G99A	L33L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HHIPL2	Hhipl2	ENSG00000143512	HHIP like 2	chr1:222695602-222721445		Tobacco Use Disorder	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0016901;oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor;IEA|GO:0048038;quinone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HHIPL2	https://www.uniprot.org/uniprot/Q6UWX4			http://www.informatics.jax.org/searchtool/Search.do?query=HHIPL2&submit=Quick%0D%8462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HHIPL2	rs4846382	0.581869	0.5420	0.6369	1	0	0	exonic	exonic	exonic	HHIPL2	HHIPL2	ENSG00000143512	synonymous SNV	synonymous SNV	unknown	HHIPL2:NM_024746:exon1:c.G99A:p.L33L,	HHIPL2:uc001hnh.1:exon1:c.G99A:p.L33L,	UNKNOWN	Het;C>T	972;81|51	Hom;C>T	2453;1|89
N	N	-	1	222734803	222734803	G	C	snp	synonymous SNV	C1143G	G381G	aliphatic,neutral	aliphatic,neutral	TAF1A	Taf1a	ENSG00000143498	TATA-box binding protein associated factor, RNA polymerase I subunit A	chr1:222731244-222763275	This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]		 	RNA Polymerase I Transcription Termination	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006360;transcription from RNA polymerase I promoter;TAS|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS	GO:0000120;RNA polymerase I transcription factor complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TAF1A	https://www.uniprot.org/uniprot/Q15573	https://hpo.jax.org/app/browse/search?q=TAF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604903	http://www.informatics.jax.org/searchtool/Search.do?query=TAF1A&submit=Quick%0D%8458ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF1A	rs1134898	0.3125	0.3558	0.4328	1	0	0	exonic	exonic	exonic	TAF1A	TAF1A	ENSG00000143498	synonymous SNV	synonymous SNV	unknown	TAF1A:NM_139352:exon9:c.C801G:p.G267G,TAF1A:NM_001201536:exon10:c.C1143G:p.G381G,TAF1A:NM_005681:exon10:c.C1143G:p.G381G,	TAF1A:uc009xdz.2:exon10:c.C1143G:p.G381G,TAF1A:uc009xdy.1:exon3:c.C216G:p.G72G,TAF1A:uc001hni.2:exon9:c.C801G:p.G267G,TAF1A:uc001hnj.3:exon10:c.C1143G:p.G381G,	UNKNOWN	Het;G>C	580;42|27	Hom;G>C	1681;0|62
N	N	-	1	222761649	222761649	C	A	snp	intronic	 	 	 	 	TAF1A	Taf1a	ENSG00000143498	TATA-box binding protein associated factor, RNA polymerase I subunit A	chr1:222731244-222763275	This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]		 	RNA Polymerase I Transcription Termination	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006360;transcription from RNA polymerase I promoter;TAS|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS	GO:0000120;RNA polymerase I transcription factor complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TAF1A	https://www.uniprot.org/uniprot/Q15573	https://hpo.jax.org/app/browse/search?q=TAF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604903	http://www.informatics.jax.org/searchtool/Search.do?query=TAF1A&submit=Quick%0D%8458ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF1A	rs4525045	0.689097	0	0	1	0	0	intronic	intronic	intronic	TAF1A	TAF1A	ENSG00000143498	Na	Na	Na	Na	Na	Na	Het;C>A	200;6|8	Hom;C>A	315;0|10
N	N	-	1	223905532	223905532	G	A	snp	synonymous SNV	G306A	L102L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CAPN2	Capn2	ENSG00000162909	calpain 2	chr1:223889295-223963720	The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]	Parkinson's disease ; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma	Homozygous inactivation of this gene leads to complete prenatal lethality. Mice homozygous for one null allele display placental dysfunction, thin ventricular walls, and peripheral vessel failure.	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models	GO:0001666;response to hypoxia;IEA|GO:0001824;blastocyst development;IEA|GO:0006508;proteolysis;IEA|GO:0007520;myoblast fusion;IEA|GO:0016540;protein autoprocessing;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0051493;regulation of cytoskeleton organization;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:0071230;cellular response to amino acid stimulus;ISS	GO:0000785;chromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030425;dendrite;ISS|GO:0030864;cortical actin cytoskeleton;TAS|GO:0031143;pseudopodium;IDA|GO:0045121;membrane raft;IDA|GO:0070062;extracellular exosome;IDA|GO:0097038;perinuclear endoplasmic reticulum;IDA	GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;NAS|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAPN2			https://www.ncbi.nlm.nih.gov/omim/?term=114230	http://www.informatics.jax.org/searchtool/Search.do?query=CAPN2&submit=Quick%0D%10829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPN2	rs17596	0.595447	0.6625	0.7173	1	0	0	exonic	exonic	exonic	CAPN2	CAPN2	ENSG00000162909	synonymous SNV	synonymous SNV	unknown	CAPN2:NM_001146068:exon2:c.G72A:p.L24L,CAPN2:NM_001748:exon2:c.G306A:p.L102L,	CAPN2:uc001hob.4:exon2:c.G306A:p.L102L,CAPN2:uc010puy.2:exon2:c.G72A:p.L24L,	UNKNOWN	Het;G>A	853;57|43	Hom;G>A	2232;2|83
N	N	-	1	224090828	224090828	G	A	snp	intergenic	 	 	 	 	ACTBP11																		rs3868799	0.2502	0	0	1	0	0	intergenic	intergenic	intergenic	TP53BP2(dist=57154),FBXO28(dist=210961)	HM358976(dist=38522),DQ599872(dist=48894)	ENSG00000188460(dist=38275),ENSG00000233771(dist=44479)	Na	Na	Na	Na	Na	Na	Het;G>A	471;2|19	Hom;G>A	453;0|16
N	N	-	1	225156457	225156457	G	A	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs16858926	0.133586	0	0.1105	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;G>A	655;56|38	Hom;G>A	2890;0|112
N	N	-	1	2252759	2252759	A	G	snp	UTR3	*63T>C	 	 	 	MORN1	Morn1	ENSG00000116151	MORN repeat containing 1	chr1:2252692-2323146			 					http://www.genecards.org/index.php?path=/Search/keyword/MORN1	https://www.uniprot.org/uniprot/Q5T089			http://www.informatics.jax.org/searchtool/Search.do?query=MORN1&submit=Quick%0D%4711ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MORN1	rs35513983	0.483626	0	0	1	0	0	UTR3	UTR3	UTR3	MORN1(NM_024848:c.*63T>C)	MORN1(uc001ajb.1:c.*63T>C)	ENSG00000116151(ENST00000378531:c.*63T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	124;4|5	Hom;A>G	248;0|8
N	N	-	1	225439988	225439988	T	C	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs630120	0.485024	0.3473	0.3252	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;T>C	966;47|47	Hom;T>C	2046;0|77
N	N	-	1	225445652	225445652	G	T	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs670255	0.485024	0.3244	0.3248	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;G>T	551;27|26	Hom;G>T	1639;0|58
N	N	-	1	225460626	225460626	T	A	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs656649	0.442093	0.2086	0.3483	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;T>A	372;18|21	Hom;T>A	989;0|39
N	N	-	1	225477869	225477869	A	G	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs36116837	0.216054	0	0	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;A>G	127;10|5	Hom;A>G	204;0|8
N	N	-	1	225541372	225541372	A	G	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs6676935	0.479633	0	0	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;A>G	31;2|2	Hom;A>G	79;0|3
N	N	-	1	225552370	225552370	C	T	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs3933058	0.482428	0	0	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;C>T	48;6|3	Hom;C>T	375;0|12
N	N	-	1	225552624	225552624	G	A	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs10495239	0.481829	0.3909	0.4027	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;G>A	1030;43|49	Hom;G>A	2358;0|85
N	N	-	1	225552650	225552650	C	T	snp	intronic	 	 	 	 	DNAH14	Dnah14	ENSG00000185842	dynein axonemal heavy chain 14	chr1:225083964-225586996	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]		 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH14			https://www.ncbi.nlm.nih.gov/omim/?term=603341	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH14&submit=Quick%0D%15502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH14	rs12563830	0.48143	0	0	1	0	0	intronic	intronic	intronic	DNAH14	DNAH14	ENSG00000185842	Na	Na	Na	Na	Na	Na	Het;C>T	779;25|34	Hom;C>T	1524;0|54
N	N	-	1	225797957	225797957	T	C	snp	intronic	 	 	 	 	ENAH	Enah	ENSG00000154380	ENAH, actin regulator	chr1:225674537-225840844	This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Glomerulonephritis, IGA|Proteinuria	Mice homozygous for a targeted mutation show defects in major axonal projection pathways in brain, including malformation of the hippocampal commissure and pontocerebellar fibers and frequent agenesis of the corpus callosum due to a failure of axons to project across the midline during development.	Signaling by Robo receptor	GO:0007411;axon guidance;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0030175;filopodium;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ENAH	https://www.uniprot.org/uniprot/Q8N8S7		https://www.ncbi.nlm.nih.gov/omim/?term=609061	http://www.informatics.jax.org/searchtool/Search.do?query=ENAH&submit=Quick%0D%9766ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENAH	rs2769689	0.745008	0	0	1	0	0	intronic	intronic	intronic	ENAH	ENAH	ENSG00000154380	Na	Na	Na	Na	Na	Na	Het;T>C	32;2|2	Hom;T>C	282;0|9
N	N	-	1	226019653	226019653	G	A	snp	synonymous SNV	G357A	K119K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	EPHX1	Ephx1	ENSG00000143819	epoxide hydrolase 1	chr1:225997794-226033260	Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]	Type 2 Diabetes| edema | rosiglitazone; preeclampsia; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; null; preterm delivery; Lung Neoplasms|Neoplasm of lung ; lymphoma; Hodgkin's disease; COPD severity; alcohol abuse; smoking behavior; PAH-DNA adducts; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; lung cancer; perinatal mortality; stomach cancer; DNA Damage|; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; aplastic anemia, acquired; DNA damage; warfarin response; Hepatitis C; birth weight; colon polyps; asbestosis or pleural plaques; chronic obstructive pulmonary disease/COPD emphysema; Cleft Lip|Cleft Palate|Tooth Abnormalities; Multiple Myeloma; colorectal polyps; Cleft Lip|Cleft Palate; polycystic ovary syndrome.; cleft lip with cleft palate; cleft lip without cleft palate; exposure to 1,3-butadiene; chronic obstructive pulmonary disease; colorectal cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; emphysema; cervical cancer; Adenoma|Colorectal Neoplasms|; Hodgkin's disease; non-Hodgkin's lymphoma; chronic obstructive pulmonary disease/COPD; styrene toxicity; carbamazepine hypersensitivity; macular degeneration; Thrombosis; head and neck cancer; ovarian cancer; Emphysema; patent ductus arteriosus; orolaryngeal cancer; Asthma|; Adenoma|Colorectal Neoplasms; pharmacogenetic studies; encephalopathy, solvent-induced; Chronic Obstructive Pulmonary Disease; Adenoma|Carcinoma|Colorectal Neoplasms; Inflammation|Premature Birth; leukemia, acute myeloid; breast cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; prostate cancer; chronic benzene poisoning; Premature Birth; bronchitis; pneumonia; brain cancer; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Hepatitis C, Chronic|Liver Neoplasms; drug-related genes ; Chromosome Aberrations|DNA Damage; phenytoin-induced congenital malformations; lung cancer ; Pancreatic Diseases; COPD; esophageal adenocarcinoma; colorectal polyps (adenoma or hyperplastic); Pulmonary Disease, Chronic Obstructive; Tobacco Use Disorder; esophageal cancer; placental abruption; infant birthweight; Carcinoma, Squamous Cell|Mouth Neoplasms|Oropharyngeal Neoplasms; DNA damage, biomarkers of; warfarin sensitivity; carbamazepine; benzene toxicity; microsomal epoxide hydrolase; 1-hydroxypyrene, urinary Cytogenetic studies; malignant mesothelioma; Colonic Neoplasms|Microsatellite Instability; COPD | Chronic obstructive Pulmonary Disease; 1-hydroxypyrene, urinary; Body Weight; Bone Diseases|Multiple Myeloma; 1,3-butadiene sensitivity; liver cancer; Micronuclei, Chromosome-Defective; preeclampsia.; vinyl choride toxicity; hypertension, gestational; Calcium; DNA adducts; Carcinoma, Hepatocellular|Hepatitis|Liver Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; Stomach Neoplasms; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Crohn's disease; esophageal cancer ; cytogenetic studies; Infection|Inflammation|Premature Birth; Lymphoma, Non-Hodgkin; esophageal carcinoma; bladder cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; neuropathy; Epilepsy|; Chronic renal failure|Kidney Failure, Chronic; Epilepsy; myocardial infarct; 2-hydroxyethyl mercapturic acid; 1-hydroxypyrene, urinary; DNA adducts, aromatic; mutagenicity, urinary; laryngeal cancer; Parkinson's disease; epithelial ovarian cancer ; Leukemia, Myeloid, Acute; normal variation; DNA Damage; warfarin dose; 1,3-butadiene toxicity; lymphoma, Non-Hodgkin's; Breast Neoplasms|; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; breast cancer ; 1-hydroxypyrene, urinary OH-phenanthrenes; asthma; endometriosis; Genomic Instability|Mesothelioma|Pleural Neoplasms; cirrhosis; hepatocellular carcinoma; hepatitis; phenanthrene metabolite ratios, urinary; Occupational Diseases|Respiratory Tract Diseases; cleft lip with cleft palate cleft lip without cleft palate cleft palate; styrene; acrylamide; Hearing Loss; polycystic ovary syndrome; sister-chromatid exchanges; hepatocellular carcinoma; 1,3-butadiene	Mice homozygous for a knock-out allele are highly resistant to DMBA-induced skin carcinogenesis.	Phase I - Functionalization of compounds	GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009636;response to toxic substance;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019439;aromatic compound catabolic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0003824;catalytic activity;IEA|GO:0004301;epoxide hydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0033961;cis-stilbene-oxide hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/EPHX1	https://www.uniprot.org/uniprot/P07099	https://hpo.jax.org/app/browse/search?q=EPHX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=132810	http://www.informatics.jax.org/searchtool/Search.do?query=EPHX1&submit=Quick%0D%8520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHX1	rs1131873	0.191094	0.1445	0.1601	1	0	0	exonic	exonic	exonic	EPHX1	EPHX1	ENSG00000143819	synonymous SNV	synonymous SNV	unknown	EPHX1:NM_001291163:exon3:c.G357A:p.K119K,EPHX1:NM_000120:exon3:c.G357A:p.K119K,EPHX1:NM_001136018:exon3:c.G357A:p.K119K,	EPHX1:uc001hpl.3:exon3:c.G357A:p.K119K,EPHX1:uc001hpk.3:exon3:c.G357A:p.K119K,EPHX1:uc031psj.1:exon3:c.G357A:p.K119K,	UNKNOWN	Het;G>A	435;20|19	Hom;G>A	636;0|22
N	N	-	1	226182800	226182800	A	G	snp	intronic	 	 	 	 	SDE2	Sde2	ENSG00000143751	SDE2 telomere maintenance homolog	chr1:226170403-226187032			 			GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SDE2	https://www.uniprot.org/uniprot/Q6IQ49			http://www.informatics.jax.org/searchtool/Search.do?query=SDE2&submit=Quick%0D%8503ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDE2	rs4653702	0.321286	0	0	1	0	0	intronic	intronic	intronic	SDE2	SDE2	ENSG00000143751	Na	Na	Na	Na	Na	Na	Het;A>G	124;1|4	Hom;A>G	227;0|6
N	N	-	1	226352498	226352498	T	G	snp	nonsynonymous SNV	A561C	E187D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ACBD3	Acbd3	ENSG00000182827	acyl-CoA binding domain containing 3	chr1:226332380-226374431	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Lymphoma, Non-Hodgkin	 	Golgi Associated Vesicle Biogenesis	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006810;transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000062;fatty-acyl-CoA binding;IEA|GO:0005515;protein binding;IPI|GO:0034237;protein kinase A regulatory subunit binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ACBD3			https://www.ncbi.nlm.nih.gov/omim/?term=606809	http://www.informatics.jax.org/searchtool/Search.do?query=ACBD3&submit=Quick%0D%14863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACBD3	rs2306120	0.53115	0.5990	0.5747	0.46	6	13	exonic	exonic	exonic	ACBD3	ACBD3	ENSG00000182827	nonsynonymous SNV	nonsynonymous SNV	unknown	ACBD3:NM_022735:exon3:c.A561C:p.E187D,	ACBD3:uc001hpy.3:exon3:c.A561C:p.E187D,	UNKNOWN	Het;T>G	1217;88|58	Hom;T>G	3645;0|130
N	N	-	1	226474132	226474132	G	A	snp	synonymous SNV	C369T	F123F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	LIN9	Lin9	ENSG00000183814	lin-9 DREAM MuvB core complex component	chr1:226418850-226497570	This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death	Mice homozygous for a knock-out allele show increased body weight. Mice homozygous for a gene-trap allele die shortly after implantation with defects in early embryogenesis. Homozygous deletion in adult mice causes premature death, intestinal epithelium atrophy, and abnormal mitosis.	Cyclin A:Cdk2-associated events at S phase entry	GO:0006351;transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0051726;regulation of cell cycle;TAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0017053;transcriptional repressor complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LIN9			https://www.ncbi.nlm.nih.gov/omim/?term=609375	http://www.informatics.jax.org/searchtool/Search.do?query=LIN9&submit=Quick%0D%15087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN9	rs10799347	0.707468	0.7046	0.7070	1	0	0	exonic	exonic	exonic	LIN9	LIN9	ENSG00000183814	synonymous SNV	synonymous SNV	unknown	LIN9:NM_001270409:exon5:c.C369T:p.F123F,LIN9:NM_001270410:exon6:c.C270T:p.F90F,LIN9:NM_173083:exon6:c.C474T:p.F158F,	LIN9:uc009xel.2:exon5:c.C369T:p.F123F,LIN9:uc001hqb.3:exon5:c.C369T:p.F123F,LIN9:uc001hqc.4:exon6:c.C270T:p.F90F,LIN9:uc001hqa.3:exon6:c.C474T:p.F158F,	UNKNOWN	Het;G>A	470;58|27	Hom;G>A	2618;0|100
N	N	-	1	226485327	226485327	A	AT	indel	intronic	 	 	 	 	LIN9	Lin9	ENSG00000183814	lin-9 DREAM MuvB core complex component	chr1:226418850-226497570	This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death	Mice homozygous for a knock-out allele show increased body weight. Mice homozygous for a gene-trap allele die shortly after implantation with defects in early embryogenesis. Homozygous deletion in adult mice causes premature death, intestinal epithelium atrophy, and abnormal mitosis.	Cyclin A:Cdk2-associated events at S phase entry	GO:0006351;transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0051726;regulation of cell cycle;TAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0017053;transcriptional repressor complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LIN9			https://www.ncbi.nlm.nih.gov/omim/?term=609375	http://www.informatics.jax.org/searchtool/Search.do?query=LIN9&submit=Quick%0D%15087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN9	rs11390947	0.632588	0	0	1	0	0	intronic	intronic	intronic	LIN9	LIN9	ENSG00000183814	Na	Na	Na	Na	Na	Na	Het;+T	157;8|8	Hom;+T	504;0|18
N	N	-	1	227680783	227680783	T	C	snp	ncRNA_exonic	 	 	 	 	TUBB8P10																		rs2814075	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CDC42BPA(dist=174957),ZNF678(dist=70437)	BC039356(dist=62060),ZNF678(dist=70437)	ENSG00000237469	Na	Na	Na	Na	Na	Na	Het;T>C	670;17|32	Hom;T>C	713;0|28
N	N	-	1	227680868	227680868	T	C	snp	ncRNA_exonic	 	 	 	 	TUBB8P10																		rs28734771	0.635783	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CDC42BPA(dist=175042),ZNF678(dist=70352)	BC039356(dist=62145),ZNF678(dist=70352)	ENSG00000237469	Na	Na	Na	Na	Na	Na	Het;T>C	486;9|19	Hom;T>C	514;0|17
N	N	-	1	227681475	227681475	T	C	snp	ncRNA_exonic	 	 	 	 	TUBB8P10																		rs4653844	0.680112	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CDC42BPA(dist=175649),ZNF678(dist=69745)	BC039356(dist=62752),ZNF678(dist=69745)	ENSG00000237469	Na	Na	Na	Na	Na	Na	Het;T>C	646;36|28	Hom;T>C	1298;0|41
N	N	-	1	227757610	227757610	G	A	snp	intronic	 	 	 	 	ZNF678	Zfp595	ENSG00000181450	zinc finger protein 678	chr1:227751244-227865144		Tobacco Use Disorder; Body Height; Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF678				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF678&submit=Quick%0D%14622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF678	rs79206490	0	0	0	1	0	0	intronic	intronic	intronic	ZNF678	ZNF678	ENSG00000181450	Na	Na	Na	Na	Na	Na	Het;G>A	50;2|2	Hom;G>A	242;0|6
N	N	-	1	227757617	227757617	T	C	snp	intronic	 	 	 	 	ZNF678	Zfp595	ENSG00000181450	zinc finger protein 678	chr1:227751244-227865144		Tobacco Use Disorder; Body Height; Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF678				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF678&submit=Quick%0D%14622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF678	rs79280629	0	0	0	1	0	0	intronic	intronic	intronic	ZNF678	ZNF678	ENSG00000181450	Na	Na	Na	Na	Na	Na	Het;T>C	50;2|2	Hom;T>C	242;0|6
N	N	-	1	227757620	227757620	C	T	snp	intronic	 	 	 	 	ZNF678	Zfp595	ENSG00000181450	zinc finger protein 678	chr1:227751244-227865144		Tobacco Use Disorder; Body Height; Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF678				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF678&submit=Quick%0D%14622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF678	rs796997445	0	0	0	1	0	0	intronic	intronic	intronic	ZNF678	ZNF678	ENSG00000181450	Na	Na	Na	Na	Na	Na	Het;C>T	50;2|2	Hom;C>T	242;0|6
N	N	-	1	227757627	227757627	T	C	snp	intronic	 	 	 	 	ZNF678	Zfp595	ENSG00000181450	zinc finger protein 678	chr1:227751244-227865144		Tobacco Use Disorder; Body Height; Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF678				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF678&submit=Quick%0D%14622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF678	rs77111219	0	0	0	1	0	0	intronic	intronic	intronic	ZNF678	ZNF678	ENSG00000181450	Na	Na	Na	Na	Na	Na	Het;T>C	50;2|2	Hom;T>C	242;0|6
N	N	-	1	227757637	227757637	C	A	snp	intronic	 	 	 	 	ZNF678	Zfp595	ENSG00000181450	zinc finger protein 678	chr1:227751244-227865144		Tobacco Use Disorder; Body Height; Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF678				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF678&submit=Quick%0D%14622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF678	rs77614742	0	0	0	1	0	0	intronic	intronic	intronic	ZNF678	ZNF678	ENSG00000181450	Na	Na	Na	Na	Na	Na	Het;C>A	50;2|2	Hom;C>A	242;0|6
N	N	-	1	227757642	227757642	T	A	snp	intronic	 	 	 	 	ZNF678	Zfp595	ENSG00000181450	zinc finger protein 678	chr1:227751244-227865144		Tobacco Use Disorder; Body Height; Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF678				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF678&submit=Quick%0D%14622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF678	rs78221925	0	0	0	1	0	0	intronic	intronic	intronic	ZNF678	ZNF678	ENSG00000181450	Na	Na	Na	Na	Na	Na	Het;T>A	50;2|2	Hom;T>A	242;0|6
N	N	-	1	227757670	227757670	T	A	snp	intronic	 	 	 	 	ZNF678	Zfp595	ENSG00000181450	zinc finger protein 678	chr1:227751244-227865144		Tobacco Use Disorder; Body Height; Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF678				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF678&submit=Quick%0D%14622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF678	rs77701616	0	0	0	1	0	0	intronic	intronic	intronic	ZNF678	ZNF678	ENSG00000181450	Na	Na	Na	Na	Na	Na	Het;T>A	50;2|2	Hom;T>A	197;0|5
N	N	-	1	2281978	2281978	T	G	snp	ncRNA_exonic	 	 	 	 	LOC100129534																		rs1039063	0.541134	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100129534	LOC100129534	ENSG00000269896	Na	Na	Na	Na	Na	Na	Het;T>G	1458;76|70	Hom;T>G	3463;1|123
N	N	-	1	2282680	2282680	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100129534																		rs2279704	0.293331	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100129534	LOC100129534	ENSG00000269896	Na	Na	Na	Na	Na	Na	Het;C>T	2092;140|103	Hom;C>T	5293;0|195
N	N	-	1	2282776	2282776	G	C	snp	ncRNA_exonic	 	 	 	 	LOC100129534																		rs2254874	0.876797	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100129534	LOC100129534	ENSG00000269896	Na	Na	Na	Na	Na	Na	Het;G>C	2517;106|106	Hom;G>C	4744;0|162
N	N	-	1	2284003	2284003	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100129534																		rs2645082	0.876997	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100129534	LOC100129534	ENSG00000269896	Na	Na	Na	Na	Na	Na	Het;T>C	1232;69|59	Hom;T>C	2918;0|105
N	N	-	1	228405118	228405118	G	GA	indel	intronic	 	 	 	 	OBSCN	Obscn	ENSG00000154358	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	chr1:228395831-228566577	The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Macular Degeneration; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007275;multicellular organism development;IEA|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0036309;protein localization to M-band;ISS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045214;sarcomere organization;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0030016;myofibril;NAS|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;ISS|GO:0031430;M band;ISS|GO:0042383;sarcolemma;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008307;structural constituent of muscle;NAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0031432;titin binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OBSCN	https://www.uniprot.org/uniprot/Q5VST9		https://www.ncbi.nlm.nih.gov/omim/?term=608616	http://www.informatics.jax.org/searchtool/Search.do?query=OBSCN&submit=Quick%0D%9763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OBSCN	rs397726771	0.990016	0	0	1	0	0	intronic	intronic	intronic	OBSCN	OBSCN	ENSG00000154358	Na	Na	Na	Na	Na	Na	Het;+A	60;1|4	Hom;+A	46;0|3
N	N	-	1	2284195	2284195	T	C	snp	ncRNA_exonic	 	 	 	 	AL513477.1																		rs3795272	0.310703	0	0	1	0	0	intronic	intronic	ncRNA_exonic	MORN1	MORN1	ENSG00000269896	Na	Na	Na	Na	Na	Na	Het;T>C	159;3|8	Hom;T>C	253;0|8
N	N	-	1	228523447	228523447	T	C	snp	intronic	 	 	 	 	OBSCN	Obscn	ENSG00000154358	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	chr1:228395831-228566577	The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Macular Degeneration; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice.	G alpha (12/13) signalling events	GO:0006468;protein phosphorylation;IEA|GO:0007275;multicellular organism development;IEA|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0036309;protein localization to M-band;ISS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045214;sarcomere organization;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0030016;myofibril;NAS|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;ISS|GO:0031430;M band;ISS|GO:0042383;sarcolemma;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008307;structural constituent of muscle;NAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0031432;titin binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OBSCN	https://www.uniprot.org/uniprot/Q5VST9		https://www.ncbi.nlm.nih.gov/omim/?term=608616	http://www.informatics.jax.org/searchtool/Search.do?query=OBSCN&submit=Quick%0D%9763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OBSCN	rs10799473	0.813498	0.8711	0.8090	1	0	0	intronic	intronic	intronic	OBSCN	OBSCN	ENSG00000154358	Na	Na	Na	Na	Na	Na	Het;T>C	124;15|8	Hom;T>C	197;0|5
N	N	-	1	2286947	2286947	A	G	snp	intronic	 	 	 	 	MORN1	Morn1	ENSG00000116151	MORN repeat containing 1	chr1:2252692-2323146			 					http://www.genecards.org/index.php?path=/Search/keyword/MORN1	https://www.uniprot.org/uniprot/Q5T089			http://www.informatics.jax.org/searchtool/Search.do?query=MORN1&submit=Quick%0D%4711ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MORN1	rs1039100	0.882987	0	0.8443	1	0	0	intronic	intronic	intronic	MORN1	MORN1	ENSG00000116151	Na	Na	Na	Na	Na	Na	Het;A>G	467;31|25	Hom;A>G	1212;0|46
N	N	-	1	229082487	229082487	G	C	snp	intergenic	 	 	 	 	AL078624.1																		rs489686	0.70647	0	0	1	0	0	intergenic	intergenic	intergenic	RHOU(dist=200071),MIR4454(dist=227943)	AX748369(dist=29533),RAB4A(dist=324322)	ENSG00000271399(dist=88184),ENSG00000229840(dist=95431)	Na	Na	Na	Na	Na	Na	Het;G>C	112;6|7	Hom;G>C	202;0|8
N	N	-	1	229635267	229635267	T	G	snp	intronic	 	 	 	 	NUP133	Nup133	ENSG00000069248	nucleoporin 133	chr1:229577045-229644103	The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development.	Mitotic Prometaphase	GO:0000972;transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006325;chromatin organization;IBA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0021915;neural tube development;IEA|GO:0022008;neurogenesis;IEA|GO:0031081;nuclear pore distribution;IBA|GO:0048339;paraxial mesoderm development;IEA|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0061053;somite development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0000940;condensed chromosome outer kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IDA	GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IBA	http://www.genecards.org/index.php?path=/Search/keyword/NUP133	https://www.uniprot.org/uniprot/Q8WUM0	https://hpo.jax.org/app/browse/search?q=NUP133&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607613	http://www.informatics.jax.org/searchtool/Search.do?query=NUP133&submit=Quick%0D%1312ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP133	rs3738185	0.141174	0	0	1	0	0	intronic	intronic	intronic	NUP133	NUP133	ENSG00000069248	Na	Na	Na	Na	Na	Na	Het;T>G	47;2|3	Hom;T>G	134;0|4
N	N	-	1	229738236	229738236	G	A	snp	synonymous SNV	C678T	P226P	hydrophobic,neutral	hydrophobic,neutral	TAF5L	Taf5l	ENSG00000135801	TATA-box binding protein associated factor 5 like	chr1:229728858-229761794	The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Stroke; diabetes, type 1; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0043966;histone H3 acetylation;IDA	GO:0000932;P-body;IDA|GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030914;STAGA complex;IDA|GO:0033276;transcription factor TFTC complex;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TAF5L	https://www.uniprot.org/uniprot/O75529			http://www.informatics.jax.org/searchtool/Search.do?query=TAF5L&submit=Quick%0D%7222ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF5L	rs4925500	0.842053	0.8075	0.7898	1	0	0	exonic	exonic	exonic	TAF5L	TAF5L	ENSG00000135801	synonymous SNV	synonymous SNV	unknown	TAF5L:NM_014409:exon4:c.C678T:p.P226P,TAF5L:NM_001025247:exon4:c.C678T:p.P226P,	TAF5L:uc001htq.3:exon4:c.C678T:p.P226P,TAF5L:uc001htr.3:exon4:c.C678T:p.P226P,	UNKNOWN	Het;G>A	1482;85|71	Hom;G>A	4551;0|166
N	N	-	1	229750036	229750036	C	T	snp	unknown	 	 	 	 	TAF5L	Taf5l	ENSG00000135801	TATA-box binding protein associated factor 5 like	chr1:229728858-229761794	The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Stroke; diabetes, type 1; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0043966;histone H3 acetylation;IDA	GO:0000932;P-body;IDA|GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030914;STAGA complex;IDA|GO:0033276;transcription factor TFTC complex;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TAF5L	https://www.uniprot.org/uniprot/O75529			http://www.informatics.jax.org/searchtool/Search.do?query=TAF5L&submit=Quick%0D%7222ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF5L	rs7547607	0.18151	0.2152	0.2122	0.12	1	8	intronic	intronic	exonic	TAF5L	TAF5L	ENSG00000135801	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	457;11|20	Hom;C>T	586;0|21
N	N	-	1	23057190	23057190	G	A	snp	intronic	 	 	 	 	EPHB2	Ephb2	ENSG00000133216	EPH receptor B2	chr1:23037332-23241818	This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]	Cleft Lip|Cleft Palate; colorectal cancer hyperplastic polyposis; Parkinson's disease ; colorectal cancer; Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone; prostate cancer; Insulin	Mice homozygous for a null allele exhibit abnormal axon guidance, circling, head bobbing, and hyperactivity.	EPH-ephrin mediated repulsion of cells	GO:0001525;angiogenesis;ISS|GO:0001655;urogenital system development;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;ISS|GO:0007413;axonal fasciculation;ISS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;ISS|GO:0022038;corpus callosum development;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050878;regulation of body fluid levels;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060021;palate development;ISS|GO:0060996;dendritic spine development;ISS|GO:0060997;dendritic spine morphogenesis;ISS|GO:0071679;commissural neuron axon guidance;ISS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0098794;postsynapse;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005005;transmembrane-ephrin receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPHB2	https://www.uniprot.org/uniprot/P29323		https://www.ncbi.nlm.nih.gov/omim/?term=600997	http://www.informatics.jax.org/searchtool/Search.do?query=EPHB2&submit=Quick%0D%6814ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHB2	rs12732926	0.166933	0	0	1	0	0	intronic	intronic	intronic	EPHB2	EPHB2	ENSG00000133216	Na	Na	Na	Na	Na	Na	Het;G>A	46;1|3	Hom;G>A	57;0|3
N	N	-	1	230819479	230819479	G	GT	indel	intronic	 	 	 	 	COG2	Cog2	ENSG00000135775	component of oligomeric golgi complex 2	chr1:230778235-230829728	This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]	HIV Infections|[X]Human immunodeficiency virus disease; Alzheimer's disease ; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IMP|GO:0007030;Golgi organization;IMP|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IMP|GO:0032403;protein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COG2	https://www.uniprot.org/uniprot/Q14746	https://hpo.jax.org/app/browse/search?q=COG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606974	http://www.informatics.jax.org/searchtool/Search.do?query=COG2&submit=Quick%0D%7219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG2	rs397727454	0.613818	0	0	1	0	0	intronic	intronic	intronic	COG2	COG2	ENSG00000135775	Na	Na	Na	Na	Na	Na	Het;+T	106;3|8	Hom;+T	191;2|8
N	N	-	1	230928512	230928512	C	G	snp	ncRNA_intronic	 	 	 	 	AL512328.1																		rs7522057	0.419728	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CAPN9	CAPN9	ENSG00000244137	Na	Na	Na	Na	Na	Na	Het;C>G	101;4|5	Hom;C>G	210;0|8
N	N	-	1	231298699	231298699	T	G	snp	UTR5	-17T>G	 	 	 	TRIM67	Trim67	ENSG00000119283	tripartite motif containing 67	chr1:231297858-231357302		Heart Rate	Mice homozygous for a null allele display decreased brain size with forebrain abnormalities, impaired spatial learning, decreased response to social novelty, impaired coordiation and reduced grip strength.		GO:0010976;positive regulation of neuron projection development;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IEA|GO:2000060;positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM67	https://www.uniprot.org/uniprot/Q6ZTA4		https://www.ncbi.nlm.nih.gov/omim/?term=610584	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM67&submit=Quick%0D%5044ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM67	rs112692510	0.152356	0.0973	0.1262	1	0	0	UTR5	UTR5	UTR5	TRIM67(NM_001004342:c.-17T>G,NM_001300889:c.-17T>G)	TRIM67(uc009xfn.1:c.-17T>G)	ENSG00000119283(ENST00000444294:c.-17T>G,ENST00000366652:c.-17T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	589;34|31	Hom;T>G	1456;0|58
N	N	-	1	231298898	231298898	C	A	snp	synonymous SNV	C183A	A61A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRIM67	Trim67	ENSG00000119283	tripartite motif containing 67	chr1:231297858-231357302		Heart Rate	Mice homozygous for a null allele display decreased brain size with forebrain abnormalities, impaired spatial learning, decreased response to social novelty, impaired coordiation and reduced grip strength.		GO:0010976;positive regulation of neuron projection development;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IEA|GO:2000060;positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM67	https://www.uniprot.org/uniprot/Q6ZTA4		https://www.ncbi.nlm.nih.gov/omim/?term=610584	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM67&submit=Quick%0D%5044ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM67	rs61750990	0.0860623	0	0.0764	1	0	0	exonic	exonic	exonic	TRIM67	TRIM67	ENSG00000119283	synonymous SNV	synonymous SNV	unknown	TRIM67:NM_001004342:exon1:c.C183A:p.A61A,	TRIM67:uc009xfn.1:exon1:c.C183A:p.A61A,	UNKNOWN	Het;C>A	458;25|20	Hom;C>A	980;1|38
N	N	-	1	231377081	231377081	C	T	snp	UTR5	-19238C>T	 	 	 	GNPAT	Gnpat	ENSG00000116906	glyceronephosphate O-acyltransferase	chr1:231376953-231413719	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia sustained attention	Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.	Plasmalogen biosynthesis	GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0007416;synapse assembly;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008611;ether lipid biosynthetic process;TAS|GO:0021587;cerebellum morphogenesis;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042594;response to starvation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0061024;membrane organization;IEA|GO:0070542;response to fatty acid;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IDA	GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0008374;O-acyltransferase activity;IEA|GO:0016287;glycerone-phosphate O-acyltransferase activity;TAS|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPAT	https://www.uniprot.org/uniprot/O15228	https://hpo.jax.org/app/browse/search?q=GNPAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602744	http://www.informatics.jax.org/searchtool/Search.do?query=GNPAT&submit=Quick%0D%4810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPAT	rs518686	0.581869	0.5509	0.5490	1	0	0	UTR5	UTR5	UTR5	GNPAT(NM_014236:c.-44C>T)	GNPAT(uc009xfo.1:c.-19238C>T,uc001hup.4:c.-44C>T,uc009xfp.3:c.-44C>T)	ENSG00000116906(ENST00000436239:c.-44C>T,ENST00000366647:c.-44C>T,ENST00000366646:c.-44C>T,ENST00000416000:c.-44C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1394;78|70	Hom;C>T	3251;1|127
N	N	-	1	231386612	231386612	T	A	snp	intronic	 	 	 	 	GNPAT	Gnpat	ENSG00000116906	glyceronephosphate O-acyltransferase	chr1:231376953-231413719	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia sustained attention	Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.	Plasmalogen biosynthesis	GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0007416;synapse assembly;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008611;ether lipid biosynthetic process;TAS|GO:0021587;cerebellum morphogenesis;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042594;response to starvation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0061024;membrane organization;IEA|GO:0070542;response to fatty acid;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IDA	GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0008374;O-acyltransferase activity;IEA|GO:0016287;glycerone-phosphate O-acyltransferase activity;TAS|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPAT	https://www.uniprot.org/uniprot/O15228	https://hpo.jax.org/app/browse/search?q=GNPAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602744	http://www.informatics.jax.org/searchtool/Search.do?query=GNPAT&submit=Quick%0D%4810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPAT	rs508908	0.631789	0	0	1	0	0	intronic	intronic	intronic	GNPAT	GNPAT	ENSG00000116906	Na	Na	Na	Na	Na	Na	Het;T>A	96;3|4	Hom;T>A	185;0|6
N	N	-	1	231400905	231400905	A	G	snp	intronic	 	 	 	 	GNPAT	Gnpat	ENSG00000116906	glyceronephosphate O-acyltransferase	chr1:231376953-231413719	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia sustained attention	Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.	Plasmalogen biosynthesis	GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0007416;synapse assembly;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008611;ether lipid biosynthetic process;TAS|GO:0021587;cerebellum morphogenesis;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042594;response to starvation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0061024;membrane organization;IEA|GO:0070542;response to fatty acid;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IDA	GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0008374;O-acyltransferase activity;IEA|GO:0016287;glycerone-phosphate O-acyltransferase activity;TAS|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPAT	https://www.uniprot.org/uniprot/O15228	https://hpo.jax.org/app/browse/search?q=GNPAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602744	http://www.informatics.jax.org/searchtool/Search.do?query=GNPAT&submit=Quick%0D%4810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPAT	rs849714	0.613419	0	0	1	0	0	intronic	intronic	intronic	GNPAT	GNPAT	ENSG00000116906	Na	Na	Na	Na	Na	Na	Het;A>G	44;2|2	Hom;A>G	79;0|3
N	N	-	1	231401204	231401204	T	C	snp	intronic	 	 	 	 	GNPAT	Gnpat	ENSG00000116906	glyceronephosphate O-acyltransferase	chr1:231376953-231413719	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia sustained attention	Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.	Plasmalogen biosynthesis	GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0007416;synapse assembly;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008611;ether lipid biosynthetic process;TAS|GO:0021587;cerebellum morphogenesis;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042594;response to starvation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0061024;membrane organization;IEA|GO:0070542;response to fatty acid;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IDA	GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0008374;O-acyltransferase activity;IEA|GO:0016287;glycerone-phosphate O-acyltransferase activity;TAS|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPAT	https://www.uniprot.org/uniprot/O15228	https://hpo.jax.org/app/browse/search?q=GNPAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602744	http://www.informatics.jax.org/searchtool/Search.do?query=GNPAT&submit=Quick%0D%4810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPAT	rs6702011	0.267772	0.2702	0.2712	1	0	0	intronic	intronic	intronic	GNPAT	GNPAT	ENSG00000116906	Na	Na	Na	Na	Na	Na	Het;T>C	1281;46|56	Hom;T>C	2830;0|98
N	N	-	1	231401596	231401596	T	C	snp	intronic	 	 	 	 	GNPAT	Gnpat	ENSG00000116906	glyceronephosphate O-acyltransferase	chr1:231376953-231413719	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia sustained attention	Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.	Plasmalogen biosynthesis	GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0007416;synapse assembly;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008611;ether lipid biosynthetic process;TAS|GO:0021587;cerebellum morphogenesis;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042594;response to starvation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0061024;membrane organization;IEA|GO:0070542;response to fatty acid;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IDA	GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0008374;O-acyltransferase activity;IEA|GO:0016287;glycerone-phosphate O-acyltransferase activity;TAS|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPAT	https://www.uniprot.org/uniprot/O15228	https://hpo.jax.org/app/browse/search?q=GNPAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602744	http://www.informatics.jax.org/searchtool/Search.do?query=GNPAT&submit=Quick%0D%4810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPAT	rs532226	0.57528	0.5456	0	1	0	0	intronic	intronic	intronic	GNPAT	GNPAT	ENSG00000116906	Na	Na	Na	Na	Na	Na	Het;T>C	203;22|13	Hom;T>C	1464;0|50
N	N	-	1	231401902	231401902	G	A	snp	synonymous SNV	G915A	E305E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	GNPAT	Gnpat	ENSG00000116906	glyceronephosphate O-acyltransferase	chr1:231376953-231413719	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia sustained attention	Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.	Plasmalogen biosynthesis	GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0007416;synapse assembly;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008611;ether lipid biosynthetic process;TAS|GO:0021587;cerebellum morphogenesis;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042594;response to starvation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0061024;membrane organization;IEA|GO:0070542;response to fatty acid;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IDA	GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0008374;O-acyltransferase activity;IEA|GO:0016287;glycerone-phosphate O-acyltransferase activity;TAS|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNPAT	https://www.uniprot.org/uniprot/O15228	https://hpo.jax.org/app/browse/search?q=GNPAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602744	http://www.informatics.jax.org/searchtool/Search.do?query=GNPAT&submit=Quick%0D%4810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPAT	rs574553	0.628594	0.5948	0.5676	1	0	0	exonic	exonic	exonic	GNPAT	GNPAT	ENSG00000116906	synonymous SNV	synonymous SNV	unknown	GNPAT:NM_014236:exon7:c.G915A:p.E305E,	GNPAT:uc001hup.4:exon7:c.G915A:p.E305E,GNPAT:uc009xfp.3:exon6:c.G732A:p.E244E,GNPAT:uc009xfo.1:exon8:c.G588A:p.E196E,	UNKNOWN	Het;G>A	1149;97|60	Hom;G>A	3185;0|119
N	N	-	1	231559226	231559226	A	G	snp	UTR5	-1592T>C	 	 	 	EGLN1	Egln1	ENSG00000135766	egl-9 family hypoxia inducible factor 1	chr1:231499497-231560790	The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]	Altitude Sickness; Altitude Sickness|Pulmonary Edema	Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity.	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	GO:0001666;response to hypoxia;IDA|GO:0006879;cellular iron ion homeostasis;IEA|GO:0018401;peptidyl-proline hydroxylation to 4-hydroxy-L-proline;IDA|GO:0030821;negative regulation of cAMP catabolic process;ISS|GO:0032364;oxygen homeostasis;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045765;regulation of angiogenesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051344;negative regulation of cyclic-nucleotide phosphodiesterase activity;ISS|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060347;heart trabecula formation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060711;labyrinthine layer development;IEA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0071731;response to nitric oxide;IDA|GO:1901214;regulation of neuron death;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;IDA|GO:0019899;enzyme binding;ISS|GO:0031418;L-ascorbic acid binding;IEA|GO:0031543;peptidyl-proline dioxygenase activity;TAS|GO:0031545;peptidyl-proline 4-dioxygenase activity;EXP|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EGLN1	https://www.uniprot.org/uniprot/Q9GZT9	https://hpo.jax.org/app/browse/search?q=EGLN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606425	http://www.informatics.jax.org/searchtool/Search.do?query=EGLN1&submit=Quick%0D%7217ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGLN1	rs12406290	0.291534	0	0	1	0	0	UTR5	UTR5	UTR5	EGLN1(NM_022051:c.-1592T>C)	EGLN1(uc001huv.2:c.-1592T>C)	ENSG00000135766(ENST00000366641:c.-1592T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	274;11|13	Hom;A>G	988;0|35
N	N	-	1	231560220	231560220	A	G	snp	UTR5	-2586T>C	 	 	 	EGLN1	Egln1	ENSG00000135766	egl-9 family hypoxia inducible factor 1	chr1:231499497-231560790	The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]	Altitude Sickness; Altitude Sickness|Pulmonary Edema	Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity.	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	GO:0001666;response to hypoxia;IDA|GO:0006879;cellular iron ion homeostasis;IEA|GO:0018401;peptidyl-proline hydroxylation to 4-hydroxy-L-proline;IDA|GO:0030821;negative regulation of cAMP catabolic process;ISS|GO:0032364;oxygen homeostasis;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045765;regulation of angiogenesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051344;negative regulation of cyclic-nucleotide phosphodiesterase activity;ISS|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060347;heart trabecula formation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060711;labyrinthine layer development;IEA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0071731;response to nitric oxide;IDA|GO:1901214;regulation of neuron death;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;IDA|GO:0019899;enzyme binding;ISS|GO:0031418;L-ascorbic acid binding;IEA|GO:0031543;peptidyl-proline dioxygenase activity;TAS|GO:0031545;peptidyl-proline 4-dioxygenase activity;EXP|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EGLN1	https://www.uniprot.org/uniprot/Q9GZT9	https://hpo.jax.org/app/browse/search?q=EGLN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606425	http://www.informatics.jax.org/searchtool/Search.do?query=EGLN1&submit=Quick%0D%7217ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGLN1	rs2153364	0.29393	0	0	1	0	0	UTR5	UTR5	UTR5	EGLN1(NM_022051:c.-2586T>C)	EGLN1(uc001huv.2:c.-2586T>C)	ENSG00000135766(ENST00000366641:c.-2586T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	343;12|17	Hom;A>G	928;0|33
N	N	-	1	232476942	232476942	C	T	snp	intergenic	 	 	 	 	RN7SL299P																		rs585499	0.238219	0	0	1	0	0	intergenic	intergenic	intergenic	TSNAX-DISC1(dist=299923),SIPA1L2(dist=56770)	DISC1(dist=299923),SIPA1L2(dist=56770)	ENSG00000242794(dist=118051),ENSG00000116991(dist=56769)	Na	Na	Na	Na	Na	Na	Het;C>T	581;25|27	Hom;C>T	1225;0|41
N	N	-	1	233296908	233296908	T	G	snp	intronic	 	 	 	 	PCNXL2	 																	rs2296516	0.564497	0	0	1	0	0	intronic	intronic	intronic	PCNXL2	PCNXL2	ENSG00000135749	Na	Na	Na	Na	Na	Na	Het;T>G	63;8|3	Hom;T>G	706;0|19
N	N	-	1	2340200	2340200	T	C	snp	synonymous SNV	A291G	T97T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PEX10	Pex10	ENSG00000157911	peroxisomal biogenesis factor 10	chr1:2336236-2345236	This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	monocyte chemoattractant protein 1 (66-77); Azoospermia	Mice homozygous for an ENU-induced allele exhibit partial neonatal mortality due to respiratory distress, loss of embryonic movement, and prenatal pathology including altered biochemistry, defects in axonal integrity, decreased Schwann cell number, and defects at the neuromuscular junction.	E3 ubiquitin ligases ubiquitinate target proteins	GO:0007031;peroxisome organization;IDA|GO:0016558;protein import into peroxisome matrix;IDA|GO:0016567;protein ubiquitination;TAS	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005779;integral component of peroxisomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PEX10		https://hpo.jax.org/app/browse/search?q=PEX10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602859	http://www.informatics.jax.org/searchtool/Search.do?query=PEX10&submit=Quick%0D%10146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX10	rs2494598	0.698882	0.7438	0.7714	1	0	0	exonic	exonic	exonic	PEX10	PEX10	ENSG00000157911	synonymous SNV	synonymous SNV	synonymous SNV	PEX10:NM_153818:exon3:c.A291G:p.T97T,PEX10:NM_002617:exon3:c.A291G:p.T97T,	PEX10:uc001ajh.3:exon3:c.A291G:p.T97T,PEX10:uc001ajg.3:exon3:c.A291G:p.T97T,	ENSG00000157911:ENST00000507596:exon3:c.A291G:p.T97T,ENSG00000157911:ENST00000288774:exon3:c.A291G:p.T97T,ENSG00000157911:ENST00000510434:exon3:c.A291G:p.T97T,ENSG00000157911:ENST00000447513:exon3:c.A291G:p.T97T,	Het;T>C	1758;100|83	Hom;T>C	4436;0|155
N	N	-	1	234665436	234665437	TA	T	indel	ncRNA_exonic	 	 	 	 	LINC01354																		rs34160151	0.736222	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01354	LOC100506795	ENSG00000231768	Na	Na	Na	Na	Na	Na	Het;-A	202;6|15	Hom;-A	235;1|13
N	N	-	1	235017410	235017412	CTT	C	indel	intergenic	 	 	 	 	RNY4P16																		rs148065601	0.716054	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01132(dist=150020),LOC101927851(dist=75678)	LOC100506810(dist=150020),BC016972(dist=75678)	ENSG00000201638(dist=43590),ENSG00000239690(dist=22521)	Na	Na	Na	Na	Na	Na	Het;-TT	1321;9|55	Hom;-TT	1269;4|51
N	N	-	1	235093988	235093988	A	G	snp	ncRNA_intronic	 	 	 	 	BC016972																		rs2802927	0.96885	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927851	BC016972	ENSG00000237520,ENSG00000238005	Na	Na	Na	Na	Na	Na	Het;A>G	67;5|3	Hom;A>G	172;0|5
N	N	-	1	235095772	235095772	C	T	snp	ncRNA_intronic	 	 	 	 	BC016972																		rs3738620	0.258786	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927851	BC016972	ENSG00000238005	Na	Na	Na	Na	Na	Na	Het;C>T	167;4|8	Hom;C>T	181;0|7
N	N	-	1	236205121	236205121	T	C	snp	intronic	 	 	 	 	NID1	Nid1	ENSG00000116962	nidogen 1	chr1:236139130-236228462	This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]	Nevi and Melanomas	Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule.	Laminin interactions	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032836;glomerular basement membrane development;IEA|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005509;calcium ion binding;IEA|GO:0005518;collagen binding;IDA|GO:0043236;laminin binding;IDA|GO:0043237;laminin-1 binding;IEA|GO:0043394;proteoglycan binding;IPI|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NID1	https://www.uniprot.org/uniprot/P14543		https://www.ncbi.nlm.nih.gov/omim/?term=131390	http://www.informatics.jax.org/searchtool/Search.do?query=NID1&submit=Quick%0D%4815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID1	rs4297282	0.584864	0	0	1	0	0	intronic	intronic	intronic	NID1	NID1	ENSG00000116962	Na	Na	Na	Na	Na	Na	Het;T>C	136;6|5	Hom;T>C	151;0|6
N	N	-	1	236205704	236205704	C	T	snp	intronic	 	 	 	 	NID1	Nid1	ENSG00000116962	nidogen 1	chr1:236139130-236228462	This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]	Nevi and Melanomas	Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule.	Laminin interactions	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032836;glomerular basement membrane development;IEA|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005509;calcium ion binding;IEA|GO:0005518;collagen binding;IDA|GO:0043236;laminin binding;IDA|GO:0043237;laminin-1 binding;IEA|GO:0043394;proteoglycan binding;IPI|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NID1	https://www.uniprot.org/uniprot/P14543		https://www.ncbi.nlm.nih.gov/omim/?term=131390	http://www.informatics.jax.org/searchtool/Search.do?query=NID1&submit=Quick%0D%4815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID1	rs12033187	0.552316	0	0	1	0	0	intronic	intronic	intronic	NID1	NID1	ENSG00000116962	Na	Na	Na	Na	Na	Na	Het;C>T	116;5|5	Hom;C>T	105;0|4
N	N	-	1	236208773	236208773	C	T	snp	nonsynonymous SNV	G736A	V246I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NID1	Nid1	ENSG00000116962	nidogen 1	chr1:236139130-236228462	This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]	Nevi and Melanomas	Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule.	Laminin interactions	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032836;glomerular basement membrane development;IEA|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005509;calcium ion binding;IEA|GO:0005518;collagen binding;IDA|GO:0043236;laminin binding;IDA|GO:0043237;laminin-1 binding;IEA|GO:0043394;proteoglycan binding;IPI|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NID1	https://www.uniprot.org/uniprot/P14543		https://www.ncbi.nlm.nih.gov/omim/?term=131390	http://www.informatics.jax.org/searchtool/Search.do?query=NID1&submit=Quick%0D%4815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID1	rs10733133	0.58726	0.4933	0.4858	0.08	1	13	exonic	exonic	exonic	NID1	NID1	ENSG00000116962	nonsynonymous SNV	nonsynonymous SNV	unknown	NID1:NM_002508:exon3:c.G736A:p.V246I,	NID1:uc001hxo.3:exon3:c.G736A:p.V246I,NID1:uc009xgd.3:exon3:c.G736A:p.V246I,	UNKNOWN	Het;C>T	681;35|33	Hom;C>T	2011;0|73
N	N	-	1	236209024	236209024	C	G	snp	intronic	 	 	 	 	NID1	Nid1	ENSG00000116962	nidogen 1	chr1:236139130-236228462	This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]	Nevi and Melanomas	Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule.	Laminin interactions	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032836;glomerular basement membrane development;IEA|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005509;calcium ion binding;IEA|GO:0005518;collagen binding;IDA|GO:0043236;laminin binding;IDA|GO:0043237;laminin-1 binding;IEA|GO:0043394;proteoglycan binding;IPI|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NID1	https://www.uniprot.org/uniprot/P14543		https://www.ncbi.nlm.nih.gov/omim/?term=131390	http://www.informatics.jax.org/searchtool/Search.do?query=NID1&submit=Quick%0D%4815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID1	rs3768088	0.58726	0.4911	0.5117	1	0	0	intronic	intronic	intronic	NID1	NID1	ENSG00000116962	Na	Na	Na	Na	Na	Na	Het;C>G	571;25|26	Hom;C>G	1894;0|64
N	N	-	1	236209081	236209081	G	A	snp	intronic	 	 	 	 	NID1	Nid1	ENSG00000116962	nidogen 1	chr1:236139130-236228462	This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]	Nevi and Melanomas	Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule.	Laminin interactions	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032836;glomerular basement membrane development;IEA|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005509;calcium ion binding;IEA|GO:0005518;collagen binding;IDA|GO:0043236;laminin binding;IDA|GO:0043237;laminin-1 binding;IEA|GO:0043394;proteoglycan binding;IPI|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NID1	https://www.uniprot.org/uniprot/P14543		https://www.ncbi.nlm.nih.gov/omim/?term=131390	http://www.informatics.jax.org/searchtool/Search.do?query=NID1&submit=Quick%0D%4815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID1	rs3768089	0.565495	0	0	1	0	0	intronic	intronic	intronic	NID1	NID1	ENSG00000116962	Na	Na	Na	Na	Na	Na	Het;G>A	77;9|4	Hom;G>A	597;0|18
N	N	-	1	236267039	236267043	TATAC	T	indel	intergenic	 	 	 	 	NID1	Nid1	ENSG00000116962	nidogen 1	chr1:236139130-236228462	This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]	Nevi and Melanomas	Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule.	Laminin interactions	GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032836;glomerular basement membrane development;IEA|GO:0071711;basement membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA	GO:0005509;calcium ion binding;IEA|GO:0005518;collagen binding;IDA|GO:0043236;laminin binding;IDA|GO:0043237;laminin-1 binding;IEA|GO:0043394;proteoglycan binding;IPI|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NID1	https://www.uniprot.org/uniprot/P14543		https://www.ncbi.nlm.nih.gov/omim/?term=131390	http://www.informatics.jax.org/searchtool/Search.do?query=NID1&submit=Quick%0D%4815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NID1	rs10574590	0.463259	0	0	1	0	0	intergenic	intergenic	intergenic	NID1(dist=38558),GPR137B(dist=38789)	AX747246(dist=37260),GPR137B(dist=38789)	ENSG00000116962(dist=38577),ENSG00000235371(dist=6318)	Na	Na	Na	Na	Na	Na	Het;-ATAC	293;2|8	Hom;-ATAC	593;0|14
N	N	-	1	236686343	236686343	G	C	snp	intronic	 	 	 	 	LGALS8	Lgals8	ENSG00000116977	galectin 8	chr1:236681300-236716281	This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	longevity; Cholesterol	Mice homozygous for a knock-out allele exhibit reduced VEGF-C-induced lymphangiogenesis, and ameliorated corneal pathology and lymphangiogenesis in a model of herpes simplex virus keratitis. Mice homozygous for a gene trapped allele exhibit hyperactivity.		GO:0006914;autophagy;IEA|GO:0098586;cellular response to virus;IMP|GO:0098792;xenophagy;IMP	GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LGALS8	https://www.uniprot.org/uniprot/O00214		https://www.ncbi.nlm.nih.gov/omim/?term=606099	http://www.informatics.jax.org/searchtool/Search.do?query=LGALS8&submit=Quick%0D%4816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS8	rs2252043	0.780152	0	0	1	0	0	intronic	intronic	intronic	LGALS8	LGALS8	ENSG00000116977	Na	Na	Na	Na	Na	Na	Het;G>C	59;10|4	Hom;G>C	252;0|7
N	N	-	1	236899899	236899900	TC	T	indel	frameshift substitution	90_91T	 	 	 	ACTN2	Actn2	ENSG00000077522	actinin alpha 2	chr1:236849754-236927931	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]	Alcoholism; Tobacco Use Disorder; null; Psychiatric Disorders; several psychiatric disorders; Cardiomyopathy, Hypertrophic; suicide; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy	 	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0002576;platelet degranulation;TAS|GO:0006936;muscle contraction;IEA|GO:0007155;cell adhesion;TAS|GO:0030035;microspike assembly;IDA|GO:0030049;muscle filament sliding;TAS|GO:0042391;regulation of membrane potential;IMP|GO:0042981;regulation of apoptotic process;NAS|GO:0043267;negative regulation of potassium ion transport;IMP|GO:0043268;positive regulation of potassium ion transport;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045214;sarcomere organization;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051289;protein homotetramerization;IDA|GO:0051695;actin filament uncapping;IMP|GO:0055013;cardiac muscle cell development;IEA|GO:0086097;phospholipase C-activating angiotensin-activated signaling pathway;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:1901017;negative regulation of potassium ion transmembrane transporter activity;IMP|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IDA|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:2000009;negative regulation of protein localization to cell surface;IMP|GO:2000273;positive regulation of receptor activity;IEA|GO:2001137;positive regulation of endocytic recycling;IMP|GO:2001259;positive regulation of cation channel activity;IMP	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS|GO:0005884;actin filament;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IMP|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031143;pseudopodium;TAS|GO:0043197;dendritic spine;TAS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;TAS|GO:0019904;protein domain specific binding;IPI|GO:0030274;LIM domain binding;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0030375;thyroid hormone receptor coactivator activity;IEA|GO:0031432;titin binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IMP|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IDA|GO:0051015;actin filament binding;IEA|GO:0051373;FATZ binding;IDA|GO:0070080;titin Z domain binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACTN2	https://www.uniprot.org/uniprot/P35609	https://hpo.jax.org/app/browse/search?q=ACTN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102573	http://www.informatics.jax.org/searchtool/Search.do?query=ACTN2&submit=Quick%0D%1629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTN2	rs11355106	0.528155	0	0.6069	1	0	0	exonic	exonic	intronic	ACTN2	ACTN2	ENSG00000077522	frameshift substitution	frameshift substitution	Na	ACTN2:NM_001278344:exon10:c.90_91T,	ACTN2:uc001hyg.2:exon10:c.90_91T,	Na	Het;-C	1038;37|40	Hom;-C	1532;0|48
N	N	-	1	236902865	236902865	A	C	snp	intronic	 	 	 	 	ACTN2	Actn2	ENSG00000077522	actinin alpha 2	chr1:236849754-236927931	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]	Alcoholism; Tobacco Use Disorder; null; Psychiatric Disorders; several psychiatric disorders; Cardiomyopathy, Hypertrophic; suicide; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy	 	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0002576;platelet degranulation;TAS|GO:0006936;muscle contraction;IEA|GO:0007155;cell adhesion;TAS|GO:0030035;microspike assembly;IDA|GO:0030049;muscle filament sliding;TAS|GO:0042391;regulation of membrane potential;IMP|GO:0042981;regulation of apoptotic process;NAS|GO:0043267;negative regulation of potassium ion transport;IMP|GO:0043268;positive regulation of potassium ion transport;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045214;sarcomere organization;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051289;protein homotetramerization;IDA|GO:0051695;actin filament uncapping;IMP|GO:0055013;cardiac muscle cell development;IEA|GO:0086097;phospholipase C-activating angiotensin-activated signaling pathway;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:1901017;negative regulation of potassium ion transmembrane transporter activity;IMP|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IDA|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:2000009;negative regulation of protein localization to cell surface;IMP|GO:2000273;positive regulation of receptor activity;IEA|GO:2001137;positive regulation of endocytic recycling;IMP|GO:2001259;positive regulation of cation channel activity;IMP	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS|GO:0005884;actin filament;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IMP|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031143;pseudopodium;TAS|GO:0043197;dendritic spine;TAS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;TAS|GO:0019904;protein domain specific binding;IPI|GO:0030274;LIM domain binding;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0030375;thyroid hormone receptor coactivator activity;IEA|GO:0031432;titin binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IMP|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IDA|GO:0051015;actin filament binding;IEA|GO:0051373;FATZ binding;IDA|GO:0070080;titin Z domain binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACTN2	https://www.uniprot.org/uniprot/P35609	https://hpo.jax.org/app/browse/search?q=ACTN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102573	http://www.informatics.jax.org/searchtool/Search.do?query=ACTN2&submit=Quick%0D%1629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTN2	rs2288602	0.422724	0.5002	0.5854	1	0	0	intronic	intronic	intronic	ACTN2	ACTN2	ENSG00000077522	Na	Na	Na	Na	Na	Na	Het;A>C	358;53|23	Hom;A>C	2410;0|83
N	N	-	1	236902955	236902955	T	C	snp	intronic	 	 	 	 	ACTN2	Actn2	ENSG00000077522	actinin alpha 2	chr1:236849754-236927931	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]	Alcoholism; Tobacco Use Disorder; null; Psychiatric Disorders; several psychiatric disorders; Cardiomyopathy, Hypertrophic; suicide; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy	 	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0002576;platelet degranulation;TAS|GO:0006936;muscle contraction;IEA|GO:0007155;cell adhesion;TAS|GO:0030035;microspike assembly;IDA|GO:0030049;muscle filament sliding;TAS|GO:0042391;regulation of membrane potential;IMP|GO:0042981;regulation of apoptotic process;NAS|GO:0043267;negative regulation of potassium ion transport;IMP|GO:0043268;positive regulation of potassium ion transport;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045214;sarcomere organization;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051289;protein homotetramerization;IDA|GO:0051695;actin filament uncapping;IMP|GO:0055013;cardiac muscle cell development;IEA|GO:0086097;phospholipase C-activating angiotensin-activated signaling pathway;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:1901017;negative regulation of potassium ion transmembrane transporter activity;IMP|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IDA|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:2000009;negative regulation of protein localization to cell surface;IMP|GO:2000273;positive regulation of receptor activity;IEA|GO:2001137;positive regulation of endocytic recycling;IMP|GO:2001259;positive regulation of cation channel activity;IMP	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS|GO:0005884;actin filament;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IMP|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031143;pseudopodium;TAS|GO:0043197;dendritic spine;TAS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;TAS|GO:0019904;protein domain specific binding;IPI|GO:0030274;LIM domain binding;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0030375;thyroid hormone receptor coactivator activity;IEA|GO:0031432;titin binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IMP|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IDA|GO:0051015;actin filament binding;IEA|GO:0051373;FATZ binding;IDA|GO:0070080;titin Z domain binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACTN2	https://www.uniprot.org/uniprot/P35609	https://hpo.jax.org/app/browse/search?q=ACTN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102573	http://www.informatics.jax.org/searchtool/Search.do?query=ACTN2&submit=Quick%0D%1629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTN2	rs7544174	0.420727	0	0	1	0	0	intronic	intronic	intronic	ACTN2	ACTN2	ENSG00000077522	Na	Na	Na	Na	Na	Na	Het;T>C	194;19|10	Hom;T>C	425;0|14
N	N	-	1	236910863	236910863	T	C	snp	intronic	 	 	 	 	ACTN2	Actn2	ENSG00000077522	actinin alpha 2	chr1:236849754-236927931	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]	Alcoholism; Tobacco Use Disorder; null; Psychiatric Disorders; several psychiatric disorders; Cardiomyopathy, Hypertrophic; suicide; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy	 	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0002576;platelet degranulation;TAS|GO:0006936;muscle contraction;IEA|GO:0007155;cell adhesion;TAS|GO:0030035;microspike assembly;IDA|GO:0030049;muscle filament sliding;TAS|GO:0042391;regulation of membrane potential;IMP|GO:0042981;regulation of apoptotic process;NAS|GO:0043267;negative regulation of potassium ion transport;IMP|GO:0043268;positive regulation of potassium ion transport;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045214;sarcomere organization;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051289;protein homotetramerization;IDA|GO:0051695;actin filament uncapping;IMP|GO:0055013;cardiac muscle cell development;IEA|GO:0086097;phospholipase C-activating angiotensin-activated signaling pathway;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:1901017;negative regulation of potassium ion transmembrane transporter activity;IMP|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IDA|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:2000009;negative regulation of protein localization to cell surface;IMP|GO:2000273;positive regulation of receptor activity;IEA|GO:2001137;positive regulation of endocytic recycling;IMP|GO:2001259;positive regulation of cation channel activity;IMP	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS|GO:0005884;actin filament;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IMP|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031143;pseudopodium;TAS|GO:0043197;dendritic spine;TAS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;TAS|GO:0019904;protein domain specific binding;IPI|GO:0030274;LIM domain binding;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0030375;thyroid hormone receptor coactivator activity;IEA|GO:0031432;titin binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IMP|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IDA|GO:0051015;actin filament binding;IEA|GO:0051373;FATZ binding;IDA|GO:0070080;titin Z domain binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACTN2	https://www.uniprot.org/uniprot/P35609	https://hpo.jax.org/app/browse/search?q=ACTN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102573	http://www.informatics.jax.org/searchtool/Search.do?query=ACTN2&submit=Quick%0D%1629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTN2	rs10802557	0.327875	0	0	1	0	0	intronic	intronic	intronic	ACTN2	ACTN2	ENSG00000077522	Na	Na	Na	Na	Na	Na	Het;T>C	77;10|4	Hom;T>C	303;0|9
N	N	-	1	237057608	237057608	G	A	snp	intronic	 	 	 	 	MTR	Mtr	ENSG00000116984	5-methyltetrahydrofolate-homocysteine methyltransferase	chr1:236958610-237067281	This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]	cervical cancer; orofacial clefts; recurrent cardiovascular event; Down Syndrome|; Diseases in Twins|Myocardial ischemia; Edema|Malnutrition; leukemia; Autism; Alzheimer's disease|Parkinson's disease; Anemia, Iron-Deficiency|Avitaminosis; Down syndrome; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Congenital Abnormalities|; atherosclerosis, coronary; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bladder Neoplasm|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; lymphoma, non-Hodgkin; DNA damage; head and neck cancer; Congenital Abnormalities; bipolar disorder schizophrenia; Apoplexy|Brain Ischemia|Stroke; body mass; cholesterol, HDL; insulin; folate; homocysteine; Adenocarcinoma|Stomach Neoplasms; cardiac defects; Coronary Disease|Coronary heart disease; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Chromosome Aberrations|DNA Damage; Coronary Artery Disease|Folic Acid Deficiency; Polycystic Ovary Syndrome; Retinal Neoplasms|Retinoblastoma; obesity; Brain Neoplasms|Glioma|Meningeal Neoplasms|Meningioma; homocysteine metabolism, cognition, and white matter lesions; multiple myeloma; Bipolar Disorder; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; homocysteine; Spinal Dysraphism; Venous Thrombosis; esophageal cancer; chromosomal damage; Folic Acid Deficiency; esophageal adenocarcinoma; Myocardial Infarction; Down Syndrome; arsenic metabolism; lung cancer ; Cleft Lip|Cleft Palate; Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Cardiovascular Diseases; breast cancer ; Echocardiography; Hyperhomocysteinemia|Hyperlipidemias; DNA Damage; Crohn Disease; atherosclerosis; Alzheimer's disease ; embryo selection; Lymphoma, Non-Hodgkin; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Parkinson's disease ; Central Nervous System Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Neutropenia; Coronary Stenosis|Hyperhomocysteinemia; depression; Azoospermia|Oligospermia; preterm delivery small-for-gestational age; stomach cancer; chronic obstructive pulmonary disease; Coronary Disease; Marijuana Abuse|Psychoses, Substance-Induced; Multiple Myeloma; Apoplexy|Stroke; breast cancer ovarian cancer; homocysteine rheumatoid arthritis rheumatoid nodulosis; thrombosis, deep vein; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Breast Neoplasms; neural tube defects ; lymphoma; lung cancer; drug hypersensitivity; cleft lip with cleft palate cleft lip without cleft palate; Carcinoma|Carcinoma, Squamous Cell|Gastrointestinal Neoplasms; Cervical Intraepithelial Neoplasia; hyperhomocystinemia; Chronic progressive chorea|Huntington Disease; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss|Vascular Diseases; Lymphoma; methotrexate toxicity; Adenoma|Colorectal Neoplasms; Carcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; brain cancer; Parkinson's disease; breast cancer; myocardial infarction; folate; homocysteine; homocysteine; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal anticonvulsant syndrome; lymphoma; multiple myeloma; hypertension; Colitis, Ulcerative; null; colorectal cancer; Choroidal Neovascularization|Macular Degeneration; renal graft survival ; neural tube defects; Heart Defects, Congenital|Spinal Dysraphism; Coronary Artery Disease|Lupus Erythematosus, Systemic; Down Syndrome|Micronuclei, Chromosome-Defective; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; atrial fibrillation homocysteine; Intracranial Aneurysm; migraine ; DNA damage associated with exposure to air pollution; lymphoma, malignant; Stroke; Arthritis, Rheumatoid; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease|Hyperhomocysteinemia; Aortic Aneurysm, Abdominal|; Hyperhomocysteinemia; Congenital Heart Defects|Heart Defects, Congenital; colon cancer; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Hypertension; Glomerulonephritis, IGA; Cell Transformation, Neoplastic|Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Colorectal Neoplasms; Birth Weight|Fetal Growth Retardation|Placental Insufficiency|Pre-Eclampsia; non-Hodgkin's lymphoma; Exfoliation Syndrome|Glaucoma; colorectal adenoma; breast cancer estrogen progesterone; heart anomalies, congenital; kidney aging; Adrenoleukodystrophy|Demyelinating Diseases|Metabolic Diseases; infertility, male; patent ductus arteriosus; Epilepsy; Brain Neoplasms|Meningioma; Hyperhomocysteinemia|Phenylketonurias|Vitamin B Deficiency; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; frequency of micronucleated lymphocytes; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Hyperhomocysteinemia|Pre-Eclampsia; Bone Neoplasms|Gastrointestinal Diseases|Hematologic Diseases|Kidney Diseases|Osteosarcoma; Alzheimer's Disease; rheumatoid arthritis; 1-carbon metabolism; cerebrovascular disease, ischemic; plasma homocysteine; Pancreatic Neoplasms	Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5.  Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009086;methionine biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS|GO:0031103;axon regeneration;IEA|GO:0032259;methylation;TAS|GO:0042558;pteridine-containing compound metabolic process;IEA|GO:0044237;cellular metabolic process;IEA|GO:0048678;response to axon injury;IEA|GO:0071732;cellular response to nitric oxide;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008705;methionine synthase activity;IMP|GO:0008898;S-adenosylmethionine-homocysteine S-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031419;cobalamin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTR	https://www.uniprot.org/uniprot/Q99707	https://hpo.jax.org/app/browse/search?q=MTR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=156570	http://www.informatics.jax.org/searchtool/Search.do?query=MTR&submit=Quick%0D%4819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTR	rs2297965	0.53754	0.5606	0.5898	1	0	0	intronic	intronic	intronic	MTR	MTR	ENSG00000116984	Na	Na	Na	Na	Na	Na	Het;G>A	130;13|8	Hom;G>A	961;0|35
N	N	-	1	237058828	237058828	C	T	snp	synonymous SNV	C3138T	L1046L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MTR	Mtr	ENSG00000116984	5-methyltetrahydrofolate-homocysteine methyltransferase	chr1:236958610-237067281	This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]	cervical cancer; orofacial clefts; recurrent cardiovascular event; Down Syndrome|; Diseases in Twins|Myocardial ischemia; Edema|Malnutrition; leukemia; Autism; Alzheimer's disease|Parkinson's disease; Anemia, Iron-Deficiency|Avitaminosis; Down syndrome; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Congenital Abnormalities|; atherosclerosis, coronary; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bladder Neoplasm|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; lymphoma, non-Hodgkin; DNA damage; head and neck cancer; Congenital Abnormalities; bipolar disorder schizophrenia; Apoplexy|Brain Ischemia|Stroke; body mass; cholesterol, HDL; insulin; folate; homocysteine; Adenocarcinoma|Stomach Neoplasms; cardiac defects; Coronary Disease|Coronary heart disease; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Chromosome Aberrations|DNA Damage; Coronary Artery Disease|Folic Acid Deficiency; Polycystic Ovary Syndrome; Retinal Neoplasms|Retinoblastoma; obesity; Brain Neoplasms|Glioma|Meningeal Neoplasms|Meningioma; homocysteine metabolism, cognition, and white matter lesions; multiple myeloma; Bipolar Disorder; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; homocysteine; Spinal Dysraphism; Venous Thrombosis; esophageal cancer; chromosomal damage; Folic Acid Deficiency; esophageal adenocarcinoma; Myocardial Infarction; Down Syndrome; arsenic metabolism; lung cancer ; Cleft Lip|Cleft Palate; Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Cardiovascular Diseases; breast cancer ; Echocardiography; Hyperhomocysteinemia|Hyperlipidemias; DNA Damage; Crohn Disease; atherosclerosis; Alzheimer's disease ; embryo selection; Lymphoma, Non-Hodgkin; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Parkinson's disease ; Central Nervous System Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Neutropenia; Coronary Stenosis|Hyperhomocysteinemia; depression; Azoospermia|Oligospermia; preterm delivery small-for-gestational age; stomach cancer; chronic obstructive pulmonary disease; Coronary Disease; Marijuana Abuse|Psychoses, Substance-Induced; Multiple Myeloma; Apoplexy|Stroke; breast cancer ovarian cancer; homocysteine rheumatoid arthritis rheumatoid nodulosis; thrombosis, deep vein; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Breast Neoplasms; neural tube defects ; lymphoma; lung cancer; drug hypersensitivity; cleft lip with cleft palate cleft lip without cleft palate; Carcinoma|Carcinoma, Squamous Cell|Gastrointestinal Neoplasms; Cervical Intraepithelial Neoplasia; hyperhomocystinemia; Chronic progressive chorea|Huntington Disease; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss|Vascular Diseases; Lymphoma; methotrexate toxicity; Adenoma|Colorectal Neoplasms; Carcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; brain cancer; Parkinson's disease; breast cancer; myocardial infarction; folate; homocysteine; homocysteine; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal anticonvulsant syndrome; lymphoma; multiple myeloma; hypertension; Colitis, Ulcerative; null; colorectal cancer; Choroidal Neovascularization|Macular Degeneration; renal graft survival ; neural tube defects; Heart Defects, Congenital|Spinal Dysraphism; Coronary Artery Disease|Lupus Erythematosus, Systemic; Down Syndrome|Micronuclei, Chromosome-Defective; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; atrial fibrillation homocysteine; Intracranial Aneurysm; migraine ; DNA damage associated with exposure to air pollution; lymphoma, malignant; Stroke; Arthritis, Rheumatoid; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease|Hyperhomocysteinemia; Aortic Aneurysm, Abdominal|; Hyperhomocysteinemia; Congenital Heart Defects|Heart Defects, Congenital; colon cancer; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Hypertension; Glomerulonephritis, IGA; Cell Transformation, Neoplastic|Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Colorectal Neoplasms; Birth Weight|Fetal Growth Retardation|Placental Insufficiency|Pre-Eclampsia; non-Hodgkin's lymphoma; Exfoliation Syndrome|Glaucoma; colorectal adenoma; breast cancer estrogen progesterone; heart anomalies, congenital; kidney aging; Adrenoleukodystrophy|Demyelinating Diseases|Metabolic Diseases; infertility, male; patent ductus arteriosus; Epilepsy; Brain Neoplasms|Meningioma; Hyperhomocysteinemia|Phenylketonurias|Vitamin B Deficiency; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; frequency of micronucleated lymphocytes; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Hyperhomocysteinemia|Pre-Eclampsia; Bone Neoplasms|Gastrointestinal Diseases|Hematologic Diseases|Kidney Diseases|Osteosarcoma; Alzheimer's Disease; rheumatoid arthritis; 1-carbon metabolism; cerebrovascular disease, ischemic; plasma homocysteine; Pancreatic Neoplasms	Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5.  Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009086;methionine biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS|GO:0031103;axon regeneration;IEA|GO:0032259;methylation;TAS|GO:0042558;pteridine-containing compound metabolic process;IEA|GO:0044237;cellular metabolic process;IEA|GO:0048678;response to axon injury;IEA|GO:0071732;cellular response to nitric oxide;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008705;methionine synthase activity;IMP|GO:0008898;S-adenosylmethionine-homocysteine S-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031419;cobalamin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTR	https://www.uniprot.org/uniprot/Q99707	https://hpo.jax.org/app/browse/search?q=MTR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=156570	http://www.informatics.jax.org/searchtool/Search.do?query=MTR&submit=Quick%0D%4819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTR	rs1131449	0.529153	0.5461	0.6193	1	0	0	exonic	exonic	exonic	MTR	MTR	ENSG00000116984	synonymous SNV	synonymous SNV	unknown	MTR:NM_000254:exon31:c.C3576T:p.L1192L,MTR:NM_001291940:exon30:c.C2355T:p.L785L,MTR:NM_001291939:exon30:c.C3423T:p.L1141L,	MTR:uc010pxy.2:exon28:c.C3138T:p.L1046L,MTR:uc001hyi.4:exon31:c.C3576T:p.L1192L,MTR:uc010pxx.2:exon30:c.C3423T:p.L1141L,MTR:uc010pxw.2:exon30:c.C2355T:p.L785L,	UNKNOWN	Het;C>T	2479;89|118	Hom;C>T	4457;0|167
N	N	-	1	237061056	237061056	A	C	snp	UTR3	*112A>C	 	 	 	MTR	Mtr	ENSG00000116984	5-methyltetrahydrofolate-homocysteine methyltransferase	chr1:236958610-237067281	This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]	cervical cancer; orofacial clefts; recurrent cardiovascular event; Down Syndrome|; Diseases in Twins|Myocardial ischemia; Edema|Malnutrition; leukemia; Autism; Alzheimer's disease|Parkinson's disease; Anemia, Iron-Deficiency|Avitaminosis; Down syndrome; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Congenital Abnormalities|; atherosclerosis, coronary; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bladder Neoplasm|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; lymphoma, non-Hodgkin; DNA damage; head and neck cancer; Congenital Abnormalities; bipolar disorder schizophrenia; Apoplexy|Brain Ischemia|Stroke; body mass; cholesterol, HDL; insulin; folate; homocysteine; Adenocarcinoma|Stomach Neoplasms; cardiac defects; Coronary Disease|Coronary heart disease; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Chromosome Aberrations|DNA Damage; Coronary Artery Disease|Folic Acid Deficiency; Polycystic Ovary Syndrome; Retinal Neoplasms|Retinoblastoma; obesity; Brain Neoplasms|Glioma|Meningeal Neoplasms|Meningioma; homocysteine metabolism, cognition, and white matter lesions; multiple myeloma; Bipolar Disorder; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; homocysteine; Spinal Dysraphism; Venous Thrombosis; esophageal cancer; chromosomal damage; Folic Acid Deficiency; esophageal adenocarcinoma; Myocardial Infarction; Down Syndrome; arsenic metabolism; lung cancer ; Cleft Lip|Cleft Palate; Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Cardiovascular Diseases; breast cancer ; Echocardiography; Hyperhomocysteinemia|Hyperlipidemias; DNA Damage; Crohn Disease; atherosclerosis; Alzheimer's disease ; embryo selection; Lymphoma, Non-Hodgkin; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Parkinson's disease ; Central Nervous System Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Neutropenia; Coronary Stenosis|Hyperhomocysteinemia; depression; Azoospermia|Oligospermia; preterm delivery small-for-gestational age; stomach cancer; chronic obstructive pulmonary disease; Coronary Disease; Marijuana Abuse|Psychoses, Substance-Induced; Multiple Myeloma; Apoplexy|Stroke; breast cancer ovarian cancer; homocysteine rheumatoid arthritis rheumatoid nodulosis; thrombosis, deep vein; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Breast Neoplasms; neural tube defects ; lymphoma; lung cancer; drug hypersensitivity; cleft lip with cleft palate cleft lip without cleft palate; Carcinoma|Carcinoma, Squamous Cell|Gastrointestinal Neoplasms; Cervical Intraepithelial Neoplasia; hyperhomocystinemia; Chronic progressive chorea|Huntington Disease; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss|Vascular Diseases; Lymphoma; methotrexate toxicity; Adenoma|Colorectal Neoplasms; Carcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; brain cancer; Parkinson's disease; breast cancer; myocardial infarction; folate; homocysteine; homocysteine; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal anticonvulsant syndrome; lymphoma; multiple myeloma; hypertension; Colitis, Ulcerative; null; colorectal cancer; Choroidal Neovascularization|Macular Degeneration; renal graft survival ; neural tube defects; Heart Defects, Congenital|Spinal Dysraphism; Coronary Artery Disease|Lupus Erythematosus, Systemic; Down Syndrome|Micronuclei, Chromosome-Defective; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; atrial fibrillation homocysteine; Intracranial Aneurysm; migraine ; DNA damage associated with exposure to air pollution; lymphoma, malignant; Stroke; Arthritis, Rheumatoid; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease|Hyperhomocysteinemia; Aortic Aneurysm, Abdominal|; Hyperhomocysteinemia; Congenital Heart Defects|Heart Defects, Congenital; colon cancer; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Hypertension; Glomerulonephritis, IGA; Cell Transformation, Neoplastic|Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Colorectal Neoplasms; Birth Weight|Fetal Growth Retardation|Placental Insufficiency|Pre-Eclampsia; non-Hodgkin's lymphoma; Exfoliation Syndrome|Glaucoma; colorectal adenoma; breast cancer estrogen progesterone; heart anomalies, congenital; kidney aging; Adrenoleukodystrophy|Demyelinating Diseases|Metabolic Diseases; infertility, male; patent ductus arteriosus; Epilepsy; Brain Neoplasms|Meningioma; Hyperhomocysteinemia|Phenylketonurias|Vitamin B Deficiency; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; frequency of micronucleated lymphocytes; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Hyperhomocysteinemia|Pre-Eclampsia; Bone Neoplasms|Gastrointestinal Diseases|Hematologic Diseases|Kidney Diseases|Osteosarcoma; Alzheimer's Disease; rheumatoid arthritis; 1-carbon metabolism; cerebrovascular disease, ischemic; plasma homocysteine; Pancreatic Neoplasms	Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5.  Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009086;methionine biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS|GO:0031103;axon regeneration;IEA|GO:0032259;methylation;TAS|GO:0042558;pteridine-containing compound metabolic process;IEA|GO:0044237;cellular metabolic process;IEA|GO:0048678;response to axon injury;IEA|GO:0071732;cellular response to nitric oxide;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008705;methionine synthase activity;IMP|GO:0008898;S-adenosylmethionine-homocysteine S-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031419;cobalamin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTR	https://www.uniprot.org/uniprot/Q99707	https://hpo.jax.org/app/browse/search?q=MTR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=156570	http://www.informatics.jax.org/searchtool/Search.do?query=MTR&submit=Quick%0D%4819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTR	rs2853522	0.540136	0	0	1	0	0	UTR3	UTR3	UTR3	MTR(NM_000254:c.*112A>C,NM_001291939:c.*112A>C,NM_001291940:c.*112A>C)	MTR(uc001hyi.4:c.*112A>C,uc010pxw.2:c.*112A>C,uc010pxx.2:c.*112A>C,uc010pxy.2:c.*112A>C)	ENSG00000116984(ENST00000366577:c.*112A>C,ENST00000535889:c.*112A>C,ENST00000366576:c.*112A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	697;19|28	Hom;A>C	1559;0|56
N	N	-	1	237064626	237064626	T	G	snp	UTR3	*3682T>G	 	 	 	MTR	Mtr	ENSG00000116984	5-methyltetrahydrofolate-homocysteine methyltransferase	chr1:236958610-237067281	This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]	cervical cancer; orofacial clefts; recurrent cardiovascular event; Down Syndrome|; Diseases in Twins|Myocardial ischemia; Edema|Malnutrition; leukemia; Autism; Alzheimer's disease|Parkinson's disease; Anemia, Iron-Deficiency|Avitaminosis; Down syndrome; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Congenital Abnormalities|; atherosclerosis, coronary; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bladder Neoplasm|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; lymphoma, non-Hodgkin; DNA damage; head and neck cancer; Congenital Abnormalities; bipolar disorder schizophrenia; Apoplexy|Brain Ischemia|Stroke; body mass; cholesterol, HDL; insulin; folate; homocysteine; Adenocarcinoma|Stomach Neoplasms; cardiac defects; Coronary Disease|Coronary heart disease; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Chromosome Aberrations|DNA Damage; Coronary Artery Disease|Folic Acid Deficiency; Polycystic Ovary Syndrome; Retinal Neoplasms|Retinoblastoma; obesity; Brain Neoplasms|Glioma|Meningeal Neoplasms|Meningioma; homocysteine metabolism, cognition, and white matter lesions; multiple myeloma; Bipolar Disorder; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; homocysteine; Spinal Dysraphism; Venous Thrombosis; esophageal cancer; chromosomal damage; Folic Acid Deficiency; esophageal adenocarcinoma; Myocardial Infarction; Down Syndrome; arsenic metabolism; lung cancer ; Cleft Lip|Cleft Palate; Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Cardiovascular Diseases; breast cancer ; Echocardiography; Hyperhomocysteinemia|Hyperlipidemias; DNA Damage; Crohn Disease; atherosclerosis; Alzheimer's disease ; embryo selection; Lymphoma, Non-Hodgkin; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Parkinson's disease ; Central Nervous System Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Neutropenia; Coronary Stenosis|Hyperhomocysteinemia; depression; Azoospermia|Oligospermia; preterm delivery small-for-gestational age; stomach cancer; chronic obstructive pulmonary disease; Coronary Disease; Marijuana Abuse|Psychoses, Substance-Induced; Multiple Myeloma; Apoplexy|Stroke; breast cancer ovarian cancer; homocysteine rheumatoid arthritis rheumatoid nodulosis; thrombosis, deep vein; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Breast Neoplasms; neural tube defects ; lymphoma; lung cancer; drug hypersensitivity; cleft lip with cleft palate cleft lip without cleft palate; Carcinoma|Carcinoma, Squamous Cell|Gastrointestinal Neoplasms; Cervical Intraepithelial Neoplasia; hyperhomocystinemia; Chronic progressive chorea|Huntington Disease; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss|Vascular Diseases; Lymphoma; methotrexate toxicity; Adenoma|Colorectal Neoplasms; Carcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; brain cancer; Parkinson's disease; breast cancer; myocardial infarction; folate; homocysteine; homocysteine; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal anticonvulsant syndrome; lymphoma; multiple myeloma; hypertension; Colitis, Ulcerative; null; colorectal cancer; Choroidal Neovascularization|Macular Degeneration; renal graft survival ; neural tube defects; Heart Defects, Congenital|Spinal Dysraphism; Coronary Artery Disease|Lupus Erythematosus, Systemic; Down Syndrome|Micronuclei, Chromosome-Defective; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; atrial fibrillation homocysteine; Intracranial Aneurysm; migraine ; DNA damage associated with exposure to air pollution; lymphoma, malignant; Stroke; Arthritis, Rheumatoid; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease|Hyperhomocysteinemia; Aortic Aneurysm, Abdominal|; Hyperhomocysteinemia; Congenital Heart Defects|Heart Defects, Congenital; colon cancer; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Hypertension; Glomerulonephritis, IGA; Cell Transformation, Neoplastic|Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Colorectal Neoplasms; Birth Weight|Fetal Growth Retardation|Placental Insufficiency|Pre-Eclampsia; non-Hodgkin's lymphoma; Exfoliation Syndrome|Glaucoma; colorectal adenoma; breast cancer estrogen progesterone; heart anomalies, congenital; kidney aging; Adrenoleukodystrophy|Demyelinating Diseases|Metabolic Diseases; infertility, male; patent ductus arteriosus; Epilepsy; Brain Neoplasms|Meningioma; Hyperhomocysteinemia|Phenylketonurias|Vitamin B Deficiency; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; frequency of micronucleated lymphocytes; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Hyperhomocysteinemia|Pre-Eclampsia; Bone Neoplasms|Gastrointestinal Diseases|Hematologic Diseases|Kidney Diseases|Osteosarcoma; Alzheimer's Disease; rheumatoid arthritis; 1-carbon metabolism; cerebrovascular disease, ischemic; plasma homocysteine; Pancreatic Neoplasms	Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5.  Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009086;methionine biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS|GO:0031103;axon regeneration;IEA|GO:0032259;methylation;TAS|GO:0042558;pteridine-containing compound metabolic process;IEA|GO:0044237;cellular metabolic process;IEA|GO:0048678;response to axon injury;IEA|GO:0071732;cellular response to nitric oxide;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008705;methionine synthase activity;IMP|GO:0008898;S-adenosylmethionine-homocysteine S-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031419;cobalamin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTR	https://www.uniprot.org/uniprot/Q99707	https://hpo.jax.org/app/browse/search?q=MTR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=156570	http://www.informatics.jax.org/searchtool/Search.do?query=MTR&submit=Quick%0D%4819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTR	rs6676866	0.539736	0	0	1	0	0	UTR3	UTR3	UTR3	MTR(NM_000254:c.*3682T>G,NM_001291939:c.*3682T>G,NM_001291940:c.*3682T>G)	MTR(uc001hyi.4:c.*3682T>G,uc010pxw.2:c.*3682T>G,uc010pxx.2:c.*3682T>G,uc010pxy.2:c.*3682T>G)	ENSG00000116984(ENST00000366577:c.*3682T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	444;21|23	Hom;T>G	913;0|33
N	N	-	1	237065326	237065326	C	T	snp	UTR3	*4382C>T	 	 	 	MTR	Mtr	ENSG00000116984	5-methyltetrahydrofolate-homocysteine methyltransferase	chr1:236958610-237067281	This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]	cervical cancer; orofacial clefts; recurrent cardiovascular event; Down Syndrome|; Diseases in Twins|Myocardial ischemia; Edema|Malnutrition; leukemia; Autism; Alzheimer's disease|Parkinson's disease; Anemia, Iron-Deficiency|Avitaminosis; Down syndrome; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Congenital Abnormalities|; atherosclerosis, coronary; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bladder Neoplasm|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; lymphoma, non-Hodgkin; DNA damage; head and neck cancer; Congenital Abnormalities; bipolar disorder schizophrenia; Apoplexy|Brain Ischemia|Stroke; body mass; cholesterol, HDL; insulin; folate; homocysteine; Adenocarcinoma|Stomach Neoplasms; cardiac defects; Coronary Disease|Coronary heart disease; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Chromosome Aberrations|DNA Damage; Coronary Artery Disease|Folic Acid Deficiency; Polycystic Ovary Syndrome; Retinal Neoplasms|Retinoblastoma; obesity; Brain Neoplasms|Glioma|Meningeal Neoplasms|Meningioma; homocysteine metabolism, cognition, and white matter lesions; multiple myeloma; Bipolar Disorder; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; homocysteine; Spinal Dysraphism; Venous Thrombosis; esophageal cancer; chromosomal damage; Folic Acid Deficiency; esophageal adenocarcinoma; Myocardial Infarction; Down Syndrome; arsenic metabolism; lung cancer ; Cleft Lip|Cleft Palate; Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Cardiovascular Diseases; breast cancer ; Echocardiography; Hyperhomocysteinemia|Hyperlipidemias; DNA Damage; Crohn Disease; atherosclerosis; Alzheimer's disease ; embryo selection; Lymphoma, Non-Hodgkin; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Parkinson's disease ; Central Nervous System Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Neutropenia; Coronary Stenosis|Hyperhomocysteinemia; depression; Azoospermia|Oligospermia; preterm delivery small-for-gestational age; stomach cancer; chronic obstructive pulmonary disease; Coronary Disease; Marijuana Abuse|Psychoses, Substance-Induced; Multiple Myeloma; Apoplexy|Stroke; breast cancer ovarian cancer; homocysteine rheumatoid arthritis rheumatoid nodulosis; thrombosis, deep vein; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Breast Neoplasms; neural tube defects ; lymphoma; lung cancer; drug hypersensitivity; cleft lip with cleft palate cleft lip without cleft palate; Carcinoma|Carcinoma, Squamous Cell|Gastrointestinal Neoplasms; Cervical Intraepithelial Neoplasia; hyperhomocystinemia; Chronic progressive chorea|Huntington Disease; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss|Vascular Diseases; Lymphoma; methotrexate toxicity; Adenoma|Colorectal Neoplasms; Carcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; brain cancer; Parkinson's disease; breast cancer; myocardial infarction; folate; homocysteine; homocysteine; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal anticonvulsant syndrome; lymphoma; multiple myeloma; hypertension; Colitis, Ulcerative; null; colorectal cancer; Choroidal Neovascularization|Macular Degeneration; renal graft survival ; neural tube defects; Heart Defects, Congenital|Spinal Dysraphism; Coronary Artery Disease|Lupus Erythematosus, Systemic; Down Syndrome|Micronuclei, Chromosome-Defective; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; atrial fibrillation homocysteine; Intracranial Aneurysm; migraine ; DNA damage associated with exposure to air pollution; lymphoma, malignant; Stroke; Arthritis, Rheumatoid; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease|Hyperhomocysteinemia; Aortic Aneurysm, Abdominal|; Hyperhomocysteinemia; Congenital Heart Defects|Heart Defects, Congenital; colon cancer; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Hypertension; Glomerulonephritis, IGA; Cell Transformation, Neoplastic|Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Colorectal Neoplasms; Birth Weight|Fetal Growth Retardation|Placental Insufficiency|Pre-Eclampsia; non-Hodgkin's lymphoma; Exfoliation Syndrome|Glaucoma; colorectal adenoma; breast cancer estrogen progesterone; heart anomalies, congenital; kidney aging; Adrenoleukodystrophy|Demyelinating Diseases|Metabolic Diseases; infertility, male; patent ductus arteriosus; Epilepsy; Brain Neoplasms|Meningioma; Hyperhomocysteinemia|Phenylketonurias|Vitamin B Deficiency; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; frequency of micronucleated lymphocytes; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Hyperhomocysteinemia|Pre-Eclampsia; Bone Neoplasms|Gastrointestinal Diseases|Hematologic Diseases|Kidney Diseases|Osteosarcoma; Alzheimer's Disease; rheumatoid arthritis; 1-carbon metabolism; cerebrovascular disease, ischemic; plasma homocysteine; Pancreatic Neoplasms	Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5.  Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009086;methionine biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS|GO:0031103;axon regeneration;IEA|GO:0032259;methylation;TAS|GO:0042558;pteridine-containing compound metabolic process;IEA|GO:0044237;cellular metabolic process;IEA|GO:0048678;response to axon injury;IEA|GO:0071732;cellular response to nitric oxide;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008705;methionine synthase activity;IMP|GO:0008898;S-adenosylmethionine-homocysteine S-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031419;cobalamin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTR	https://www.uniprot.org/uniprot/Q99707	https://hpo.jax.org/app/browse/search?q=MTR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=156570	http://www.informatics.jax.org/searchtool/Search.do?query=MTR&submit=Quick%0D%4819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTR	rs4659746	0.544728	0	0	1	0	0	UTR3	UTR3	UTR3	MTR(NM_000254:c.*4382C>T,NM_001291939:c.*4382C>T,NM_001291940:c.*4382C>T)	MTR(uc001hyi.4:c.*4382C>T,uc010pxw.2:c.*4382C>T,uc010pxx.2:c.*4382C>T,uc010pxy.2:c.*4382C>T)	ENSG00000116984(ENST00000366577:c.*4382C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	681;42|36	Hom;C>T	1494;0|57
N	N	-	1	237813126	237813126	A	G	snp	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs625006	0.573083	0	0	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;A>G	649;25|28	Hom;A>G	1986;0|67
N	N	-	1	237814783	237814783	C	T	snp	synonymous SNV	C7806T	H2602H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs684923	0.554912	0.4507	0.5198	1	0	0	exonic	exonic	exonic	RYR2	RYR2	ENSG00000198626	synonymous SNV	synonymous SNV	unknown	RYR2:NM_001035:exon51:c.C7806T:p.H2602H,	RYR2:uc001hyl.1:exon51:c.C7806T:p.H2602H,	UNKNOWN	Het;C>T	877;67|46	Hom;C>T	3234;0|126
N	N	-	1	237814898	237814898	C	A	snp	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs2184014	0.55631	0	0	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;C>A	259;10|12	Hom;C>A	804;0|27
N	N	-	1	237923053	237923053	C	T	snp	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs2253831	0.761581	0.7260	0.7109	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;C>T	1021;70|55	Hom;C>T	3524;1|138
N	N	-	1	237946964	237946964	T	C	snp	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs790889	0.414736	0.3267	0.4859	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;T>C	1629;67|72	Hom;T>C	3673;1|135
N	N	-	1	237951451	237951451	A	G	snp	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs2256242	0.636581	0.6176	0.5750	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;A>G	716;31|31	Hom;A>G	2258;0|75
N	N	-	1	237955649	237955653	CTGTG	C	indel	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs529587905	0.528155	0	0.4514	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;-TGTG	579;12|16	Hom;-TGTG	1178;0|30
N	N	-	1	237955678	237955678	T	C	snp	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs144369382	0.528155	0	0	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;T>C	562;13|16	Hom;T>C	1252;0|30
N	N	-	1	237955680	237955680	T	C	snp	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs146659498	0.528155	0	0	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;T>C	649;13|15	Hom;T>C	1252;0|26
N	N	-	1	237955698	237955700	CGT	C	indel	intronic	 	 	 	 	RYR2	Ryr2	ENSG00000198626	ryanodine receptor 2	chr1:237205505-237997288	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]	Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.	Ion homeostasis	GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RYR2		https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180902	http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2	rs71162418	0	0	0	1	0	0	intronic	intronic	intronic	RYR2	RYR2	ENSG00000198626	Na	Na	Na	Na	Na	Na	Het;-GT	159;7|7	Hom;-GT	119;0|5
N	N	-	1	2379705	2379705	A	G	snp	intronic	 	 	 	 	PLCH2	Plch2	ENSG00000276429	phospholipase C eta 2	chr1:2357419-2436969	PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]		Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype.	Synthesis of IP3 and IP4 in the cytosol	GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008150;biological_process;ND|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCH2	https://www.uniprot.org/uniprot/O75038		https://www.ncbi.nlm.nih.gov/omim/?term=612836	http://www.informatics.jax.org/searchtool/Search.do?query=PLCH2&submit=Quick%0D%21607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCH2	rs942820	0.724241	0	0	1	0	0	intergenic	intergenic	intronic	PEX10(dist=35695),PLCH2(dist=19193)	PEX10(dist=35695),PLCH2(dist=28049)	ENSG00000149527	Na	Na	Na	Na	Na	Na	Het;A>G	83;1|4	Hom;A>G	111;0|4
N	N	-	1	238084427	238084427	G	T	snp	ncRNA_intronic	 	 	 	 	LOC100130331																		rs12132831	0.095647	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100130331	LOC100130331	ENSG00000237250	Na	Na	Na	Na	Na	Na	Het;G>T	406;17|17	Hom;G>T	1065;0|35
N	N	-	1	2381622	2381622	A	G	snp	intronic	 	 	 	 	PLCH2	Plch2	ENSG00000276429	phospholipase C eta 2	chr1:2357419-2436969	PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]		Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype.	Synthesis of IP3 and IP4 in the cytosol	GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008150;biological_process;ND|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCH2	https://www.uniprot.org/uniprot/O75038		https://www.ncbi.nlm.nih.gov/omim/?term=612836	http://www.informatics.jax.org/searchtool/Search.do?query=PLCH2&submit=Quick%0D%21607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCH2	rs867809	0.46905	0	0	1	0	0	intergenic	intergenic	intronic	PEX10(dist=37612),PLCH2(dist=17276)	PEX10(dist=37612),PLCH2(dist=26132)	ENSG00000149527	Na	Na	Na	Na	Na	Na	Het;A>G	41;2|2	Hom;A>G	103;0|4
N	N	-	1	238341500	238341500	A	T	snp	intergenic	 	 	 	 	YWHAQP9																		rs10925581	0.830272	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100130331(dist=249881),LINC01139(dist=302184)	TRNA_Pseudo(dist=234470),LOC339535(dist=302184)	ENSG00000230019(dist=69633),ENSG00000232989(dist=90294)	Na	Na	Na	Na	Na	Na	Het;A>T	88;4|4	Hom;A>T	71;0|3
N	N	-	1	2383756	2383756	A	G	snp	intronic	 	 	 	 	PLCH2	Plch2	ENSG00000276429	phospholipase C eta 2	chr1:2357419-2436969	PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]		Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype.	Synthesis of IP3 and IP4 in the cytosol	GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008150;biological_process;ND|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCH2	https://www.uniprot.org/uniprot/O75038		https://www.ncbi.nlm.nih.gov/omim/?term=612836	http://www.informatics.jax.org/searchtool/Search.do?query=PLCH2&submit=Quick%0D%21607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCH2	rs10797425	0.533147	0	0	1	0	0	intergenic	intergenic	intronic	PEX10(dist=39746),PLCH2(dist=15142)	PEX10(dist=39746),PLCH2(dist=23998)	ENSG00000149527	Na	Na	Na	Na	Na	Na	Het;A>G	46;2|3	Hom;A>G	269;0|12
N	N	-	1	239699124	239699124	C	T	snp	intergenic	 	 	 	 	NONE																		rs9287229	0.446286	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01139(dist=1049807),CHRM3(dist=93249)	NONE(dist=NONE),NONE(dist=NONE)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	346;11|17	Hom;C>T	778;0|29
N	N	-	1	2399119	2399119	A	G	snp	intronic	 	 	 	 	PLCH2	Plch2	ENSG00000276429	phospholipase C eta 2	chr1:2357419-2436969	PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]		Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype.	Synthesis of IP3 and IP4 in the cytosol	GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008150;biological_process;ND|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCH2	https://www.uniprot.org/uniprot/O75038		https://www.ncbi.nlm.nih.gov/omim/?term=612836	http://www.informatics.jax.org/searchtool/Search.do?query=PLCH2&submit=Quick%0D%21607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCH2	rs2494632	0.720048	0	0.6	1	0	0	intronic	intergenic	intronic	PLCH2	PEX10(dist=55109),PLCH2(dist=8635)	ENSG00000149527	Na	Na	Na	Na	Na	Na	Het;A>G	253;17|9	Hom;A>G	840;0|22
N	N	-	1	2399149	2399149	A	G	snp	intronic	 	 	 	 	PLCH2	Plch2	ENSG00000276429	phospholipase C eta 2	chr1:2357419-2436969	PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]		Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype.	Synthesis of IP3 and IP4 in the cytosol	GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008150;biological_process;ND|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003674;molecular_function;ND|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCH2	https://www.uniprot.org/uniprot/O75038		https://www.ncbi.nlm.nih.gov/omim/?term=612836	http://www.informatics.jax.org/searchtool/Search.do?query=PLCH2&submit=Quick%0D%21607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCH2	rs2494631	0.698682	0	0.5	1	0	0	intronic	intergenic	intronic	PLCH2	PEX10(dist=55139),PLCH2(dist=8605)	ENSG00000149527	Na	Na	Na	Na	Na	Na	Het;A>G	225;14|6	Hom;A>G	692;0|16
N	N	-	1	239932382	239932382	C	T	snp	intronic	 	 	 	 	CHRM3	Chrm3	ENSG00000133019	cholinergic receptor muscarinic 3	chr1:239549865-240078750	The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. [provided by RefSeq, Jul 2008]	alcohol consumption; hypertension; Marijuana Abuse|Psychoses, Substance-Induced; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Interleukin-6; Celiac Disease|; diabetes, type 2 insulin; BMI- Edema rosiglitazone or pioglitazone; asthma; several psychiatric disorders; Multiple Sclerosis; Glomerular Filtration Rate; Natriuretic Peptide, Brain; Hypercholesterolemia|LDLC levels; Respiratory Function Tests; bronchodilator response; bipolar disorder; asthma and atopy; Asthma|; Weight Gain	Homozygous null mice show reduced body weight and gonadal fat pad weight, decreased food intake, and low serum levels of leptin, triglycerides and insulin. Dilated pupils, hydronephrosis, and impaired contractility of smooth muscle are also observed.	G alpha (q) signalling events	GO:0003056;regulation of vascular smooth muscle contraction;IBA|GO:0006464;cellular protein modification process;TAS|GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007197;adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway;IBA|GO:0007207;phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway;IBA|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;ISS|GO:0007271;synaptic transmission, cholinergic;IBA|GO:0007399;nervous system development;TAS|GO:0007586;digestion;IEA|GO:0008283;cell proliferation;TAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0045987;positive regulation of smooth muscle contraction;IEA|GO:0046541;saliva secretion;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032279;asymmetric synapse;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IBA|GO:0045211;postsynaptic membrane;IEA	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IEA|GO:0016907;G-protein coupled acetylcholine receptor activity;TAS|GO:0042166;acetylcholine binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CHRM3	https://www.uniprot.org/uniprot/P20309	https://hpo.jax.org/app/browse/search?q=CHRM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=118494	http://www.informatics.jax.org/searchtool/Search.do?query=CHRM3&submit=Quick%0D%6777ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRM3	rs525389	0.686502	0	0	1	0	0	intronic	intronic	intronic	CHRM3	CHRM3	ENSG00000133019	Na	Na	Na	Na	Na	Na	Het;C>T	434;2|17	Hom;C>T	360;0|15
N	N	-	1	240932039	240932039	G	A	snp	intronic	 	 	 	 	RGS7	Rgs7	ENSG00000182901	regulator of G protein signaling 7	chr1:240931554-241520530		panic disorder; Cholesterol; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Cholesterol, LDL; Glucose; Triglycerides; Coronary Artery Disease; Lipids	Mice homozygous for a hypomorphic allele exhibit reduced exploration in a new environment, impaired glucose tolerance in males, and abnormal rod b-wave electrophysiology. Mice homozygous for a knock-out allele exhibit runting, delayed eye opening, and transient prolonged b-wave implicit time.	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0005096;GTPase activator activity;IDA|GO:0031681;G-protein beta-subunit binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS7			https://www.ncbi.nlm.nih.gov/omim/?term=602517	http://www.informatics.jax.org/searchtool/Search.do?query=RGS7&submit=Quick%0D%14877ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS7	rs1418479	0.661542	0	0	1	0	0	intergenic	intronic	intronic	MIR1273E(dist=19822),RGS7(dist=6775)	RGS7	ENSG00000182901	Na	Na	Na	Na	Na	Na	Het;G>A	73;3|4	Hom;G>A	158;0|7
N	N	-	1	240932067	240932067	C	T	snp	intronic	 	 	 	 	RGS7	Rgs7	ENSG00000182901	regulator of G protein signaling 7	chr1:240931554-241520530		panic disorder; Cholesterol; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Cholesterol, LDL; Glucose; Triglycerides; Coronary Artery Disease; Lipids	Mice homozygous for a hypomorphic allele exhibit reduced exploration in a new environment, impaired glucose tolerance in males, and abnormal rod b-wave electrophysiology. Mice homozygous for a knock-out allele exhibit runting, delayed eye opening, and transient prolonged b-wave implicit time.	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0005096;GTPase activator activity;IDA|GO:0031681;G-protein beta-subunit binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS7			https://www.ncbi.nlm.nih.gov/omim/?term=602517	http://www.informatics.jax.org/searchtool/Search.do?query=RGS7&submit=Quick%0D%14877ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS7	rs56997786	0.0443291	0	0	1	0	0	intergenic	intronic	intronic	MIR1273E(dist=19850),RGS7(dist=6747)	RGS7	ENSG00000182901	Na	Na	Na	Na	Na	Na	Het;C>T	111;5|6	Hom;C>T	156;0|7
N	N	-	1	243087106	243087106	T	C	snp	intergenic	 	 	 	 	ENSG00000264972																		rs3003542	0.403954	0	0	1	0	0	intergenic	intergenic	intergenic	PLD5(dist=399108),LINC01347(dist=132510)	PLD5(dist=399108),DQ576410(dist=131627)	ENSG00000264972(dist=25851),ENSG00000230199(dist=51201)	Na	Na	Na	Na	Na	Na	Het;T>C	632;72|35	Hom;T>C	3002;0|112
N	N	-	1	243087223	243087223	T	C	snp	intergenic	 	 	 	 	ENSG00000264972																		rs3003543	0.608027	0	0	1	0	0	intergenic	intergenic	intergenic	PLD5(dist=399225),LINC01347(dist=132393)	PLD5(dist=399225),DQ576410(dist=131510)	ENSG00000264972(dist=25968),ENSG00000230199(dist=51084)	Na	Na	Na	Na	Na	Na	Het;T>C	117;13|5	Hom;T>C	491;0|13
N	N	-	1	24434717	24434717	T	TC	indel	UTR5	-15220A>GA	 	 	 	MYOM3	Myom3	ENSG00000142661	myomesin 3	chr1:24382525-24438665		Body Mass Index; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Height; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke	 		GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA	GO:0008307;structural constituent of muscle;IBA|GO:0042803;protein homodimerization activity;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM3	https://www.uniprot.org/uniprot/Q5VTT5		https://www.ncbi.nlm.nih.gov/omim/?term=616832	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM3&submit=Quick%0D%8318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM3	rs11447181	0.274161	0	0	1	0	0	intronic	UTR5	intronic	MYOM3	MYOM3(uc001bip.1:c.-15220A>GA)	ENSG00000142661	Na	Na	Na	Na	Na	Na	Het;+C	99;1|5	Hom;+C	86;0|4
N	N	-	1	24448084	24448084	G	A	snp	synonymous SNV	C732T	P244P	hydrophobic,neutral	hydrophobic,neutral	IL22RA1	Il22ra1	ENSG00000142677	interleukin 22 receptor subunit alpha 1	chr1:24446261-24469611	The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008]	Body Height; Rhinitis|Sinusitis; Celiac Disease|	 	Interleukin-19,20,22,24,26,28 and 29 signaling	GO:0008150;biological_process;ND|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004904;interferon receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042015;interleukin-20 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL22RA1	https://www.uniprot.org/uniprot/Q8N6P7		https://www.ncbi.nlm.nih.gov/omim/?term=605457	http://www.informatics.jax.org/searchtool/Search.do?query=IL22RA1&submit=Quick%0D%8322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL22RA1	rs17852648	0.205272	0.2368	0.2915	1	0	0	exonic	exonic	exonic	IL22RA1	IL22RA1	ENSG00000142677	synonymous SNV	synonymous SNV	synonymous SNV	IL22RA1:NM_021258:exon7:c.C936T:p.P312P,	IL22RA1:uc010oeg.1:exon5:c.C732T:p.P244P,IL22RA1:uc009vrb.2:exon8:c.C528T:p.P176P,IL22RA1:uc010oeh.2:exon7:c.C936T:p.P312P,IL22RA1:uc001biq.2:exon7:c.C936T:p.P312P,	ENSG00000142677:ENST00000270800:exon7:c.C936T:p.P312P,	Het;G>A	2544;89|114	Hom;G>A	4410;1|159
N	N	-	1	24460797	24460797	T	G	snp	synonymous SNV	A111C	P37P	hydrophobic,neutral	hydrophobic,neutral	IL22RA1	Il22ra1	ENSG00000142677	interleukin 22 receptor subunit alpha 1	chr1:24446261-24469611	The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008]	Body Height; Rhinitis|Sinusitis; Celiac Disease|	 	Interleukin-19,20,22,24,26,28 and 29 signaling	GO:0008150;biological_process;ND|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004904;interferon receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042015;interleukin-20 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL22RA1	https://www.uniprot.org/uniprot/Q8N6P7		https://www.ncbi.nlm.nih.gov/omim/?term=605457	http://www.informatics.jax.org/searchtool/Search.do?query=IL22RA1&submit=Quick%0D%8322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL22RA1	rs17852649	0.523562	0.6332	0.5715	1	0	0	exonic	exonic	exonic	IL22RA1	IL22RA1	ENSG00000142677	synonymous SNV	synonymous SNV	synonymous SNV	IL22RA1:NM_021258:exon4:c.A435C:p.P145P,	IL22RA1:uc010oeg.1:exon2:c.A111C:p.P37P,IL22RA1:uc009vrb.2:exon5:c.A27C:p.P9P,IL22RA1:uc010oeh.2:exon4:c.A435C:p.P145P,IL22RA1:uc001biq.2:exon4:c.A435C:p.P145P,	ENSG00000142677:ENST00000270800:exon4:c.A435C:p.P145P,	Het;T>G	538;21|28	Hom;T>G	1865;0|69
N	N	-	1	24485941	24485941	T	C	snp	intronic	 	 	 	 	IFNLR1	Ifnlr1	ENSG00000185436	interferon lambda receptor 1	chr1:24480647-24514449	The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Erythrocyte Count; Psoriasis; null; allergic rhinitis; Adiponectin; Celiac Disease|	Homozygous null mice are viable and normal with respect to viral infection, however antiviral response evoked by TLRs are significantly reduced.	Interleukin-19,20,22,24,26,28 and 29 signaling	GO:0002385;mucosal immune response;IEA|GO:0008285;negative regulation of cell proliferation;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0034342;response to type III interferon;ISS|GO:0050691;regulation of defense response to virus by host;IDA|GO:0051607;defense response to virus;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032002;interleukin-28 receptor complex;IDA	GO:0004896;cytokine receptor activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFNLR1			https://www.ncbi.nlm.nih.gov/omim/?term=607404	http://www.informatics.jax.org/searchtool/Search.do?query=IFNLR1&submit=Quick%0D%15414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNLR1	rs4649195	0.593251	0.6208	0.6601	1	0	0	intronic	intronic	intronic	IFNLR1	IFNLR1	ENSG00000185436	Na	Na	Na	Na	Na	Na	Het;T>C	751;24|35	Hom;T>C	1443;0|50
N	N	-	1	246954313	246954313	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01341																		rs10924831	0.256589	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01341	LOC149134	ENSG00000227953	Na	Na	Na	Na	Na	Na	Het;A>G	2127;92|99	Hom;A>G	3864;0|138
N	N	-	1	247473889	247473889	C	T	snp	intronic	 	 	 	 	ZNF496	Zkscan17	ENSG00000162714	zinc finger protein 496	chr1:247460714-247495148		Amyotrophic Lateral Sclerosis; Diabetic Nephropathies	 	Generic Transcription Pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IBA|GO:0016604;nuclear body;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF496			https://www.ncbi.nlm.nih.gov/omim/?term=613911	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF496&submit=Quick%0D%10777ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF496	rs61838684	0.230032	0	0	1	0	0	intronic	intronic	intronic	ZNF496	ZNF496	ENSG00000162714	Na	Na	Na	Na	Na	Na	Het;C>T	168;10|7	Hom;C>T	401;0|13
N	N	-	1	247582466	247582466	A	T	snp	intronic	 	 	 	 	NLRP3	Nlrp3	ENSG00000162711	NLR family pyrin domain containing 3	chr1:247579458-247612410	This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]	Anaphylaxis|Drug Hypersensitivity|Food Hypersensitivity|; Chlamydia Infections|Fallopian Tube Diseases; Fibrinogen; Type 2 Diabetes| edema | rosiglitazone; Candidiasis, Vulvovaginal|Recurrence|Vulvar Vestibulitis; rheumatoid arthritis; neurohypophyseal diabetes insipidus; Arthritis, Juvenile Rheumatoid|Arthritis, Psoriatic|Familial Mediterranean Fever|; Hereditary Autoinflammatory Diseases|Lymphadenitis|Pharyngitis|Stomatitis, Aphthous|Syndrome; Autism; Arthritis; Familial Mediterranean Fever; hyper-IgD syndrome; Colitis, Ulcerative|Crohn Disease|Familial Mediterranean Fever|Inflammatory Bowel Diseases; Hematologic Neoplasms|Recurrence; fibrinogen; Behcet's disease; Crohn Disease|Crohn's disease; longevity; Arthritis, Rheumatoid; Crohn Disease|; null; hypertension; HIV Infections|[X]Human immunodeficiency virus disease; dermatitis and eczema; amyloidosis; Celiac Disease|Dermatitis, Atopic|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Eczema allergic; C-Reactive Protein	Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning.	The NLRP3 inflammasome	GO:0002376;immune system process;IEA|GO:0002674;negative regulation of acute inflammatory response;IMP|GO:0002830;positive regulation of type 2 immune response;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;NAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006952;defense response;TAS|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;NAS|GO:0009595;detection of biotic stimulus;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032611;interleukin-1 beta production;IEA|GO:0032621;interleukin-18 production;IEA|GO:0032736;positive regulation of interleukin-13 production;IEA|GO:0032753;positive regulation of interleukin-4 production;ISS|GO:0032754;positive regulation of interleukin-5 production;IEA|GO:0042347;negative regulation of NF-kappaB import into nucleus;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0044546;NLRP3 inflammasome complex assembly;IEA|GO:0045087;innate immune response;IEA|GO:0045630;positive regulation of T-helper 2 cell differentiation;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050701;interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IMP|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050727;regulation of inflammatory response;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051259;protein oligomerization;TAS|GO:0051607;defense response to virus;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:2000321;positive regulation of T-helper 17 cell differentiation;IEA|GO:2000553;positive regulation of T-helper 2 cell cytokine production;ISS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0061702;inflammasome complex;IEA|GO:0072559;NLRP3 inflammasome complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008134;transcription factor binding;ISS|GO:0042802;identical protein binding;IPI|GO:0042834;peptidoglycan binding;TAS|GO:0043565;sequence-specific DNA binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NLRP3		https://hpo.jax.org/app/browse/search?q=NLRP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606416	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP3&submit=Quick%0D%10776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP3	rs4998423	0.656749	0	0	1	0	0	intronic	intronic	intronic	NLRP3	NLRP3	ENSG00000162711	Na	Na	Na	Na	Na	Na	Het;A>T	311;3|13	Hom;A>T	656;0|14
N	N	-	1	247615261	247615262	GA	G	indel	frameshift substitution	23_24C	 	 	 	OR2B11	Olfr222	ENSG00000177535	olfactory receptor family 2 subfamily B member 11	chr1:247614255-247615308	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2B11				http://www.informatics.jax.org/searchtool/Search.do?query=OR2B11&submit=Quick%0D%14042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2B11	rs35305980	0.449081	0.3948	0.4629	1	0	0	exonic	exonic	exonic	OR2B11	OR2B11	ENSG00000177535	frameshift substitution	frameshift substitution	unknown	OR2B11:NM_001004492:exon1:c.23_24C,	OR2B11:uc010pyx.2:exon1:c.23_24C,	UNKNOWN	Het;-A	1054;84|39	Hom;-A	4271;0|115
N	N	-	1	248059423	248059423	C	T	snp	nonsynonymous SNV	C535T	R179C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	OR2W3	Olfr322	ENSG00000238243	olfactory receptor family 2 subfamily W member 3	chr1:248031277-248060449	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Lipoproteins, HDL	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2W3			https://www.ncbi.nlm.nih.gov/omim/?term=616729	http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3	rs10888267	0.388978	0.4300	0.4775	0.15	2	13	exonic	exonic	exonic	OR2W3	OR2W3,TRIM58	ENSG00000238243	nonsynonymous SNV	nonsynonymous SNV	unknown	OR2W3:NM_001001957:exon1:c.C535T:p.R179C,	OR2W3:uc010pzb.2:exon1:c.C535T:p.R179C,TRIM58:uc001idp.1:exon3:c.C535T:p.R179C,	UNKNOWN	Het;C>T	1336;68|61	Hom;C>T	3220;3|123
N	N	-	1	248059456	248059456	G	A	snp	nonsynonymous SNV	G568A	V190I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR2W3	Olfr322	ENSG00000238243	olfactory receptor family 2 subfamily W member 3	chr1:248031277-248060449	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Lipoproteins, HDL	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2W3			https://www.ncbi.nlm.nih.gov/omim/?term=616729	http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3	rs12135078	0.363618	0.4000	0.4613	0.08	1	13	exonic	exonic	exonic	OR2W3	OR2W3,TRIM58	ENSG00000238243	nonsynonymous SNV	nonsynonymous SNV	unknown	OR2W3:NM_001001957:exon1:c.G568A:p.V190I,	OR2W3:uc010pzb.2:exon1:c.G568A:p.V190I,TRIM58:uc001idp.1:exon3:c.G568A:p.V190I,	UNKNOWN	Het;G>A	1575;88|75	Hom;G>A	3841;2|142
N	N	-	1	248059703	248059703	T	A	snp	nonsynonymous SNV	T815A	M272K	hydrophobic,neutral	polar,hydrophilic,charged(+)	OR2W3	Olfr322	ENSG00000238243	olfactory receptor family 2 subfamily W member 3	chr1:248031277-248060449	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Lipoproteins, HDL	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2W3			https://www.ncbi.nlm.nih.gov/omim/?term=616729	http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3	rs11204545	0.478035	0.5499	0.5747	0.15	2	13	exonic	exonic	exonic	OR2W3	OR2W3,TRIM58	ENSG00000238243	nonsynonymous SNV	nonsynonymous SNV	unknown	OR2W3:NM_001001957:exon1:c.T815A:p.M272K,	OR2W3:uc010pzb.2:exon1:c.T815A:p.M272K,TRIM58:uc001idp.1:exon3:c.T815A:p.M272K,	UNKNOWN	Het;T>A	2094;78|58	Hom;T>A	4676;0|107
N	N	-	1	248059712	248059712	T	C	snp	nonsynonymous SNV	T824C	M275T	hydrophobic,neutral	polar,hydrophilic,neutral	OR2W3	Olfr322	ENSG00000238243	olfactory receptor family 2 subfamily W member 3	chr1:248031277-248060449	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Lipoproteins, HDL	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2W3			https://www.ncbi.nlm.nih.gov/omim/?term=616729	http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3	rs11204546	0.479832	0.5532	0.5799	0.23	3	13	exonic	exonic	exonic	OR2W3	OR2W3,TRIM58	ENSG00000238243	nonsynonymous SNV	nonsynonymous SNV	unknown	OR2W3:NM_001001957:exon1:c.T824C:p.M275T,	OR2W3:uc010pzb.2:exon1:c.T824C:p.M275T,TRIM58:uc001idp.1:exon3:c.T824C:p.M275T,	UNKNOWN	Het;T>C	2035;75|55	Hom;T>C	4678;0|105
N	N	-	1	248059856	248059856	T	C	snp	UTR3	*23T>C	 	 	 	OR2W3	Olfr322	ENSG00000238243	olfactory receptor family 2 subfamily W member 3	chr1:248031277-248060449	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Lipoproteins, HDL	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2W3			https://www.ncbi.nlm.nih.gov/omim/?term=616729	http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3	rs10888268	0.477236	0.5508	0.5940	1	0	0	downstream	UTR3	UTR3	OR2W3	TRIM58(uc001idp.1:c.*23T>C)	ENSG00000238243(ENST00000537741:c.*23T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	231;24|12	Hom;T>C	1289;0|48
N	N	-	1	248084434	248084434	G	A	snp	nonsynonymous SNV	G115A	G39S	aliphatic,neutral	polar,hydrophilic,neutral	OR2T8	Olfr314	ENSG00000177462		chr1:248084320-248085258	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2T8				http://www.informatics.jax.org/searchtool/Search.do?query=OR2T8&submit=Quick%0D%14026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2T8	rs11204563	0.462859	0	0.6421	0.25	3	12	exonic	exonic	exonic	OR2T8	OR2T8	ENSG00000177462	nonsynonymous SNV	nonsynonymous SNV	unknown	OR2T8:NM_001005522:exon1:c.G115A:p.G39S,	OR2T8:uc010pzc.2:exon1:c.G115A:p.G39S,	UNKNOWN	Het;G>A	358;16|14	Hom;G>A	1282;0|44
N	N	-	1	248085108	248085108	C	T	snp	synonymous SNV	C789T	H263H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	OR2T8	Olfr314	ENSG00000177462		chr1:248084320-248085258	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2T8				http://www.informatics.jax.org/searchtool/Search.do?query=OR2T8&submit=Quick%0D%14026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2T8	rs4625315	0	0	0.6774	1	0	0	exonic	exonic	exonic	OR2T8	OR2T8	ENSG00000177462	synonymous SNV	synonymous SNV	unknown	OR2T8:NM_001005522:exon1:c.C789T:p.H263H,	OR2T8:uc010pzc.2:exon1:c.C789T:p.H263H,	UNKNOWN	Het;C>T	755;65|39	Hom;C>T	1881;0|69
N	N	-	1	248085341	248085341	T	A	snp	downstream	 	 	 	 	OR2T8	Olfr314	ENSG00000177462		chr1:248084320-248085258	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2T8				http://www.informatics.jax.org/searchtool/Search.do?query=OR2T8&submit=Quick%0D%14026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2T8	rs4925773	0.625998	0	0	1	0	0	downstream	downstream	downstream	OR2T8	OR2T8	ENSG00000177462	Na	Na	Na	Na	Na	Na	Het;T>A	79;7|4	Hom;T>A	492;0|17
N	N	-	1	248112762	248112762	T	C	snp	synonymous SNV	T603C	S201S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OR2L8		ENSG00000279263	olfactory receptor family 2 subfamily L member 8 (gene/pseudogene)	chr1:248112160-248113098	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]			Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0008150;biological_process;ND|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2L8				http://www.informatics.jax.org/searchtool/Search.do?query=OR2L8&submit=Quick%0D%22171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2L8	rs4925789	0.729832	0.5555	0.7907	1	0	0	exonic	exonic	exonic	OR2L8	OR2L8	ENSG00000196936	synonymous SNV	synonymous SNV	unknown	OR2L8:NM_001001963:exon1:c.T603C:p.S201S,	OR2L8:uc001idt.1:exon1:c.T603C:p.S201S,	UNKNOWN	Het;T>C	386;2|10	Hom;T>C	940;0|22
N	N	-	1	248112763	248112763	G	A	snp	nonsynonymous SNV	G604A	A202T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	OR2L8		ENSG00000279263	olfactory receptor family 2 subfamily L member 8 (gene/pseudogene)	chr1:248112160-248113098	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]			Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0008150;biological_process;ND|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2L8				http://www.informatics.jax.org/searchtool/Search.do?query=OR2L8&submit=Quick%0D%22171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2L8	rs4925790	0.743211	0.5794	0.7948	0.08	1	13	exonic	exonic	exonic	OR2L8	OR2L8	ENSG00000196936	nonsynonymous SNV	nonsynonymous SNV	unknown	OR2L8:NM_001001963:exon1:c.G604A:p.A202T,	OR2L8:uc001idt.1:exon1:c.G604A:p.A202T,	UNKNOWN	Het;G>A	421;2|10	Hom;G>A	940;0|21
N	N	-	1	248112771	248112771	C	T	snp	synonymous SNV	C612T	I204I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR2L8		ENSG00000279263	olfactory receptor family 2 subfamily L member 8 (gene/pseudogene)	chr1:248112160-248113098	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]			Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0008150;biological_process;ND|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2L8				http://www.informatics.jax.org/searchtool/Search.do?query=OR2L8&submit=Quick%0D%22171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2L8	rs4925791	0	0.6326	0.7945	1	0	0	exonic	exonic	exonic	OR2L8	OR2L8	ENSG00000196936	synonymous SNV	synonymous SNV	unknown	OR2L8:NM_001001963:exon1:c.C612T:p.I204I,	OR2L8:uc001idt.1:exon1:c.C612T:p.I204I,	UNKNOWN	Het;C>T	421;2|11	Hom;C>T	830;0|20
N	N	-	1	2482921	2482921	T	C	snp	ncRNA_exonic	 	 	 	 	LOC115110																		rs2147905	0.660144	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC115110	LOC115110	ENSG00000238164	Na	Na	Na	Na	Na	Na	Het;T>C	2631;155|123	Hom;T>C	7838;0|279
N	N	-	1	2483270	2483270	T	C	snp	ncRNA_exonic	 	 	 	 	LOC115110																		rs3748825	0.613219	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC115110	LOC115110	ENSG00000238164	Na	Na	Na	Na	Na	Na	Het;T>C	1945;93|91	Hom;T>C	5218;0|178
N	N	-	1	2483298	2483298	C	G	snp	ncRNA_exonic	 	 	 	 	LOC115110																		rs2985858	0.624201	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC115110	LOC115110	ENSG00000238164	Na	Na	Na	Na	Na	Na	Het;C>G	2256;100|103	Hom;C>G	5474;0|183
N	N	-	1	2487663	2487663	C	A	snp	synonymous SNV	G399T	R133R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LOC100133445																		rs2227312	0.599241	0	0.6286	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC115110	LOC100133445	ENSG00000238164	Na	synonymous SNV	Na	Na	LOC100133445:uc021oev.1:exon2:c.G399T:p.R133R,	Na	Het;C>A	2094;112|100	Hom;C>A	4965;1|185
N	N	-	1	2487766	2487766	T	C	snp	nonsynonymous SNV	A296G	H99R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LOC100133445																		rs2227313	0.610823	0	0.5863	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC115110	LOC100133445	ENSG00000238164	Na	nonsynonymous SNV	Na	Na	LOC100133445:uc021oev.1:exon2:c.A296G:p.H99R,	Na	Het;T>C	1679;104|77	Hom;T>C	5198;1|187
N	N	-	1	2488153	2488153	A	G	snp	nonsynonymous SNV	A50G	K17R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TNFRSF14	Tnfrsf14	ENSG00000273936	TNF receptor superfamily member 14	chr1:2487078-2496821	This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid|	Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival.	TNFs bind their physiological receptors	GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14			https://www.ncbi.nlm.nih.gov/omim/?term=602746	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14	rs4870	0.614816	0.5580	0.5443	0.25	3	12	exonic	exonic	exonic	TNFRSF14	TNFRSF14	ENSG00000157873	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	TNFRSF14:NM_003820:exon1:c.A50G:p.K17R,TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,	TNFRSF14:uc001ajr.3:exon1:c.A50G:p.K17R,TNFRSF14:uc009vlf.1:exon1:c.A50G:p.K17R,TNFRSF14:uc010nzc.1:exon1:c.A50G:p.K17R,	ENSG00000157873:ENST00000355716:exon1:c.A50G:p.K17R,ENSG00000157873:ENST00000426449:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000409119:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000434817:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000451778:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000435221:exon2:c.A50G:p.K17R,	Het;A>G	1440;75|69	Hom;A>G	2428;0|84
N	N	-	1	2488608	2488608	T	C	snp	intronic	 	 	 	 	TNFRSF14	Tnfrsf14	ENSG00000273936	TNF receptor superfamily member 14	chr1:2487078-2496821	This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid|	Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival.	TNFs bind their physiological receptors	GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14			https://www.ncbi.nlm.nih.gov/omim/?term=602746	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14	rs1886730	0.645767	0	0	1	0	0	intronic	intronic	intronic	TNFRSF14	TNFRSF14	ENSG00000157873	Na	Na	Na	Na	Na	Na	Het;T>C	80;2|3	Hom;T>C	232;0|7
N	N	-	1	2490942	2490942	C	A	snp	nonsynonymous SNV	C494A	A165E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	TNFRSF14	Tnfrsf14	ENSG00000273936	TNF receptor superfamily member 14	chr1:2487078-2496821	This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid|	Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival.	TNFs bind their physiological receptors	GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14			https://www.ncbi.nlm.nih.gov/omim/?term=602746	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14	rs2281852	0.597843	0	0.5713	1	0	0	intronic	exonic	intronic	TNFRSF14	TNFRSF14	ENSG00000157873	Na	nonsynonymous SNV	Na	Na	TNFRSF14:uc001ajt.1:exon3:c.C494A:p.A165E,	Na	Het;C>A	2030;104|99	Hom;C>A	4761;0|175
N	N	-	1	2491205	2491205	C	T	snp	nonsynonymous SNV	C757T	R253C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	TNFRSF14	Tnfrsf14	ENSG00000273936	TNF receptor superfamily member 14	chr1:2487078-2496821	This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid|	Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival.	TNFs bind their physiological receptors	GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14			https://www.ncbi.nlm.nih.gov/omim/?term=602746	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14	rs2234161	0.64397	0	0.6596	1	0	0	intronic	exonic	intronic	TNFRSF14	TNFRSF14	ENSG00000157873	Na	nonsynonymous SNV	Na	Na	TNFRSF14:uc001ajt.1:exon3:c.C757T:p.R253C,	Na	Het;C>T	885;46|39	Hom;C>T	2018;0|69
N	N	-	1	24927561	24927561	T	C	snp	intronic	 	 	 	 	NCMAP	Ncmap	ENSG00000184454	non-compact myelin associated protein	chr1:24882602-24935819			 		GO:0031643;positive regulation of myelination;ISS|GO:0032290;peripheral nervous system myelin formation;ISS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033270;paranode region of axon;ISS|GO:0043220;Schmidt-Lanterman incisure;ISS	GO:0019911;structural constituent of myelin sheath;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NCMAP				http://www.informatics.jax.org/searchtool/Search.do?query=NCMAP&submit=Quick%0D%15210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCMAP	rs4553122	0.551917	0.5430	0.5617	1	0	0	intronic	intronic	intronic	NCMAP	NCMAP	ENSG00000184454	Na	Na	Na	Na	Na	Na	Het;T>C	405;12|17	Hom;T>C	782;0|27
N	N	-	1	2494785	2494785	G	A	snp	UTR3	*73G>A	 	 	 	TNFRSF14	Tnfrsf14	ENSG00000273936	TNF receptor superfamily member 14	chr1:2487078-2496821	This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid|	Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival.	TNFs bind their physiological receptors	GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14			https://www.ncbi.nlm.nih.gov/omim/?term=602746	http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14	rs8725	0.631989	0	0	1	0	0	UTR3	UTR3	UTR3	TNFRSF14(NM_001297605:c.*227G>A,NM_003820:c.*73G>A)	TNFRSF14(uc001ajt.1:c.*1725G>A,uc001ajr.3:c.*73G>A)	ENSG00000157873(ENST00000355716:c.*73G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1397;51|66	Hom;G>A	1981;0|77
N	N	-	1	2498027	2498027	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100996583																		rs2495365	0.669728	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100996583	TNFRSF14(dist=2760),FAM213B(dist=19872)	ENSG00000225931	Na	Na	Na	Na	Na	Na	Het;A>G	212;19|13	Hom;A>G	1684;0|45
N	N	-	1	2498052	2498052	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100996583																		rs61054170	0.590855	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC100996583	TNFRSF14(dist=2785),FAM213B(dist=19847)	ENSG00000225931	Na	Na	Na	Na	Na	Na	Het;C>T	185;13|11	Hom;C>T	1424;0|32
N	N	-	1	2499254	2499254	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100996583																		rs2182176	0.571286	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC100996583	TNFRSF14(dist=3987),FAM213B(dist=18645)	ENSG00000225931	Na	Na	Na	Na	Na	Na	Het;G>A	47;7|3	Hom;G>A	406;0|16
N	N	-	1	2500893	2500893	G	A	snp	ncRNA_exonic	 	 	 	 	AL139246.2																		rs4648647	0.578474	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_exonic	LOC100996583	TNFRSF14(dist=5626),FAM213B(dist=17006)	ENSG00000225931	Na	Na	Na	Na	Na	Na	Het;G>A	955;59|51	Hom;G>A	2383;0|90
N	N	-	1	2501338	2501338	C	T	snp	downstream	 	 	 	 	AL139246.2																		rs10797432	0.580471	0	0	1	0	0	ncRNA_intronic	intergenic	downstream	LOC100996583	TNFRSF14(dist=6071),FAM213B(dist=16561)	ENSG00000225931	Na	Na	Na	Na	Na	Na	Het;C>T	1494;72|67	Hom;C>T	3309;0|120
N	N	-	1	2501516	2501516	A	G	snp	downstream	 	 	 	 	AL139246.2																		rs10910092	0.580871	0	0	1	0	0	ncRNA_intronic	intergenic	downstream	LOC100996583	TNFRSF14(dist=6249),FAM213B(dist=16383)	ENSG00000225931	Na	Na	Na	Na	Na	Na	Het;A>G	1211;61|51	Hom;A>G	2006;0|69
N	N	-	1	2506488	2506488	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100996583																		rs10910094	0.625998	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC100996583	TNFRSF14(dist=11221),FAM213B(dist=11411)	ENSG00000225931(dist=5161),ENSG00000228037(dist=6511)	Na	Na	Na	Na	Na	Na	Het;C>T	359;10|16	Hom;C>T	544;0|20
N	N	-	1	2513055	2513055	A	T	snp	ncRNA_exonic	 	 	 	 	LOC100996583																		rs4486391	0.653754	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100996583	TNFRSF14(dist=17788),FAM213B(dist=4844)	ENSG00000228037	Na	Na	Na	Na	Na	Na	Het;A>T	1228;54|59	Hom;A>T	3380;2|134
N	N	-	1	2513216	2513216	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100996583																		rs734999	0.644569	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC100996583	TNFRSF14(dist=17949),FAM213B(dist=4683)	ENSG00000228037	Na	Na	Na	Na	Na	Na	Het;C>T	269;6|11	Hom;C>T	347;0|11
N	N	-	1	25611035	25611035	G	C	snp	intronic	 	 	 	 	RHD	Rhd	ENSG00000187010	Rh blood group D antigen	chr1:25598884-25656936	The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; cirrhosis, alcoholic; schizophrenia; RhD-negative sensitized pregnancy; hemolytic disease of the newborn; cirrhosis, alcoholic; null; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	Mice homozygous for a knock-out allele exhibit decreased ammonium and methylammonium transport in red cell ghosts, reduced basal adhesion of red blood cells to endothelial cells, and a slight increase in iron levels.		GO:0006810;transport;IEA|GO:0015695;organic cation transport;IBA|GO:0015696;ammonium transport;IEA|GO:0072488;ammonium transmembrane transport;IBA	GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008519;ammonium transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RHD			https://www.ncbi.nlm.nih.gov/omim/?term=111680	http://www.informatics.jax.org/searchtool/Search.do?query=RHD&submit=Quick%0D%15758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHD	rs2301153	0.622404	0.5623	0.7422	1	0	0	intronic	intronic	intronic	RHD	RHD	ENSG00000117616,ENSG00000187010	Na	Na	Na	Na	Na	Na	Het;G>C	1916;38|71	Hom;G>C	4323;0|148
N	N	-	1	25631436	25631436	A	T	snp	ncRNA_exonic	 	 	 	 	AX747205																		rs28685153	0.685503	0	0	1	0	0	intronic	ncRNA_exonic	intronic	RHD	AX747205	ENSG00000117616,ENSG00000187010	Na	Na	Na	Na	Na	Na	Het;A>T	124;5|5	Hom;A>T	209;0|7
N	N	-	1	25633531	25633531	G	C	snp	intronic	 	 	 	 	RHD	Rhd	ENSG00000187010	Rh blood group D antigen	chr1:25598884-25656936	The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary; cirrhosis, alcoholic; schizophrenia; RhD-negative sensitized pregnancy; hemolytic disease of the newborn; cirrhosis, alcoholic; null; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	Mice homozygous for a knock-out allele exhibit decreased ammonium and methylammonium transport in red cell ghosts, reduced basal adhesion of red blood cells to endothelial cells, and a slight increase in iron levels.		GO:0006810;transport;IEA|GO:0015695;organic cation transport;IBA|GO:0015696;ammonium transport;IEA|GO:0072488;ammonium transmembrane transport;IBA	GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008519;ammonium transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RHD			https://www.ncbi.nlm.nih.gov/omim/?term=111680	http://www.informatics.jax.org/searchtool/Search.do?query=RHD&submit=Quick%0D%15758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHD	rs3118453	0.685503	0	0	1	0	0	intronic	intronic	intronic	RHD	RHD	ENSG00000117616,ENSG00000187010	Na	Na	Na	Na	Na	Na	Het;G>C	125;5|5	Hom;G>C	364;0|13
N	N	-	1	25780668	25780668	C	T	snp	intronic	 	 	 	 	TMEM57	Tmem57	ENSG00000204178	transmembrane protein 57	chr1:25757388-25826700		Coronary Disease|; Cholesterol, total; Blood Sedimentation; Cholesterol, LDL; Cholesterol; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007420;brain development;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0031965;nuclear membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0044306;neuron projection terminus;ISS|GO:0045202;synapse;ISS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM57			https://www.ncbi.nlm.nih.gov/omim/?term=610301	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM57&submit=Quick%0D%17219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM57	rs34006994	0.496406	0	0	1	0	0	intronic	intronic	intronic	TMEM57	TMEM57	ENSG00000204178	Na	Na	Na	Na	Na	Na	Het;C>T	178;16|9	Hom;C>T	769;0|26
N	N	-	1	25780893	25780893	A	G	snp	intronic	 	 	 	 	TMEM57	Tmem57	ENSG00000204178	transmembrane protein 57	chr1:25757388-25826700		Coronary Disease|; Cholesterol, total; Blood Sedimentation; Cholesterol, LDL; Cholesterol; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007420;brain development;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0031965;nuclear membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0044306;neuron projection terminus;ISS|GO:0045202;synapse;ISS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM57			https://www.ncbi.nlm.nih.gov/omim/?term=610301	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM57&submit=Quick%0D%17219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM57	rs61775167	0.498403	0	0.5016	1	0	0	intronic	intronic	intronic	TMEM57	TMEM57	ENSG00000204178	Na	Na	Na	Na	Na	Na	Het;A>G	480;21|17	Hom;A>G	1673;0|45
N	N	-	1	25783066	25783066	A	G	snp	intronic	 	 	 	 	TMEM57	Tmem57	ENSG00000204178	transmembrane protein 57	chr1:25757388-25826700		Coronary Disease|; Cholesterol, total; Blood Sedimentation; Cholesterol, LDL; Cholesterol; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007420;brain development;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0031965;nuclear membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0044306;neuron projection terminus;ISS|GO:0045202;synapse;ISS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM57			https://www.ncbi.nlm.nih.gov/omim/?term=610301	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM57&submit=Quick%0D%17219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM57	rs35497030	0.471046	0	0	1	0	0	intronic	intronic	intronic	TMEM57	TMEM57	ENSG00000204178	Na	Na	Na	Na	Na	Na	Het;A>G	39;3|3	Hom;A>G	283;0|9
N	N	-	1	25785451	25785451	A	G	snp	intronic	 	 	 	 	TMEM57	Tmem57	ENSG00000204178	transmembrane protein 57	chr1:25757388-25826700		Coronary Disease|; Cholesterol, total; Blood Sedimentation; Cholesterol, LDL; Cholesterol; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007420;brain development;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0031965;nuclear membrane;ISS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0044306;neuron projection terminus;ISS|GO:0045202;synapse;ISS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM57			https://www.ncbi.nlm.nih.gov/omim/?term=610301	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM57&submit=Quick%0D%17219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM57	rs35530120	0.497204	0	0	1	0	0	intronic	intronic	intronic	TMEM57	TMEM57	ENSG00000204178	Na	Na	Na	Na	Na	Na	Het;A>G	231;12|9	Hom;A>G	821;0|26
N	N	-	1	25889342	25889344	CAG	C	indel	UTR5	-197_-195delinsC	 	 	 	LDLRAP1	Ldlrap1	ENSG00000157978	low density lipoprotein receptor adaptor protein 1	chr1:25870071-25895377	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]	cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|Myocardial Infarction	Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).	LDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0031623;receptor internalization;IMP|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0042632;cholesterol homeostasis;IMP|GO:0042982;amyloid precursor protein metabolic process;IMP|GO:0043393;regulation of protein binding;IMP|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:0090205;positive regulation of cholesterol metabolic process;IC|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;ISS|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0009925;basal plasma membrane;IDA|GO:0030121;AP-1 adaptor complex;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030424;axon;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0055037;recycling endosome;IDA	GO:0001540;beta-amyloid binding;IPI|GO:0001784;phosphotyrosine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0030159;receptor signaling complex scaffold activity;IMP|GO:0030276;clathrin binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:0035615;clathrin adaptor activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLRAP1		https://hpo.jax.org/app/browse/search?q=LDLRAP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605747	http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAP1&submit=Quick%0D%10151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAP1	rs10687390	0.434704	0	0	1	0	0	intronic	UTR5	intronic	LDLRAP1	LDLRAP1(uc009vrx.3:c.-197_-195delinsC)	ENSG00000157978	Na	Na	Na	Na	Na	Na	Het;-AG	122;3|4	Hom;-AG	143;0|4
N	N	-	1	25889422	25889422	C	T	snp	UTR5	-117C>T	 	 	 	LDLRAP1	Ldlrap1	ENSG00000157978	low density lipoprotein receptor adaptor protein 1	chr1:25870071-25895377	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]	cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|Myocardial Infarction	Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).	LDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0031623;receptor internalization;IMP|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0042632;cholesterol homeostasis;IMP|GO:0042982;amyloid precursor protein metabolic process;IMP|GO:0043393;regulation of protein binding;IMP|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:0090205;positive regulation of cholesterol metabolic process;IC|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;ISS|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0009925;basal plasma membrane;IDA|GO:0030121;AP-1 adaptor complex;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030424;axon;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0055037;recycling endosome;IDA	GO:0001540;beta-amyloid binding;IPI|GO:0001784;phosphotyrosine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0030159;receptor signaling complex scaffold activity;IMP|GO:0030276;clathrin binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:0035615;clathrin adaptor activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLRAP1		https://hpo.jax.org/app/browse/search?q=LDLRAP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605747	http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAP1&submit=Quick%0D%10151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAP1	rs12096438	0.433107	0	0	1	0	0	intronic	UTR5	intronic	LDLRAP1	LDLRAP1(uc009vrx.3:c.-117C>T)	ENSG00000157978	Na	Na	Na	Na	Na	Na	Het;C>T	353;6|12	Hom;C>T	249;0|8
N	N	-	1	25889632	25889632	T	C	snp	nonsynonymous SNV	T604C	S202P	polar,hydrophilic,neutral	hydrophobic,neutral	LDLRAP1	Ldlrap1	ENSG00000157978	low density lipoprotein receptor adaptor protein 1	chr1:25870071-25895377	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]	cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|Myocardial Infarction	Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).	LDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0031623;receptor internalization;IMP|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0042632;cholesterol homeostasis;IMP|GO:0042982;amyloid precursor protein metabolic process;IMP|GO:0043393;regulation of protein binding;IMP|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:0090205;positive regulation of cholesterol metabolic process;IC|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;ISS|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0009925;basal plasma membrane;IDA|GO:0030121;AP-1 adaptor complex;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030424;axon;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0055037;recycling endosome;IDA	GO:0001540;beta-amyloid binding;IPI|GO:0001784;phosphotyrosine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0030159;receptor signaling complex scaffold activity;IMP|GO:0030276;clathrin binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:0035615;clathrin adaptor activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLRAP1		https://hpo.jax.org/app/browse/search?q=LDLRAP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605747	http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAP1&submit=Quick%0D%10151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAP1	rs6687605	0.434904	0.4693	0.5011	0.08	1	13	exonic	exonic	exonic	LDLRAP1	LDLRAP1	ENSG00000157978	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	LDLRAP1:NM_015627:exon6:c.T604C:p.S202P,	LDLRAP1:uc001bkl.4:exon6:c.T604C:p.S202P,LDLRAP1:uc009vrx.3:exon1:c.T94C:p.S32P,	ENSG00000157978:ENST00000374338:exon6:c.T604C:p.S202P,	Het;T>C	874;53|43	Hom;T>C	3178;0|111
N	N	-	1	25889672	25889672	G	A	snp	intronic	 	 	 	 	LDLRAP1	Ldlrap1	ENSG00000157978	low density lipoprotein receptor adaptor protein 1	chr1:25870071-25895377	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]	cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|Myocardial Infarction	Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).	LDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0031623;receptor internalization;IMP|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0042632;cholesterol homeostasis;IMP|GO:0042982;amyloid precursor protein metabolic process;IMP|GO:0043393;regulation of protein binding;IMP|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:0090205;positive regulation of cholesterol metabolic process;IC|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;ISS|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0009925;basal plasma membrane;IDA|GO:0030121;AP-1 adaptor complex;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030424;axon;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0055037;recycling endosome;IDA	GO:0001540;beta-amyloid binding;IPI|GO:0001784;phosphotyrosine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0030159;receptor signaling complex scaffold activity;IMP|GO:0030276;clathrin binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:0035615;clathrin adaptor activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLRAP1		https://hpo.jax.org/app/browse/search?q=LDLRAP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605747	http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAP1&submit=Quick%0D%10151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAP1	rs6688931	0.416534	0.4467	0.4817	1	0	0	intronic	intronic	intronic	LDLRAP1	LDLRAP1	ENSG00000157978	Na	Na	Na	Na	Na	Na	Het;G>A	555;30|25	Hom;G>A	1815;0|66
N	N	-	1	25890050	25890050	A	G	snp	intronic	 	 	 	 	LDLRAP1	Ldlrap1	ENSG00000157978	low density lipoprotein receptor adaptor protein 1	chr1:25870071-25895377	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]	cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|Myocardial Infarction	Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).	LDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0031623;receptor internalization;IMP|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0042632;cholesterol homeostasis;IMP|GO:0042982;amyloid precursor protein metabolic process;IMP|GO:0043393;regulation of protein binding;IMP|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:0090205;positive regulation of cholesterol metabolic process;IC|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;ISS|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0009925;basal plasma membrane;IDA|GO:0030121;AP-1 adaptor complex;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030424;axon;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0055037;recycling endosome;IDA	GO:0001540;beta-amyloid binding;IPI|GO:0001784;phosphotyrosine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0030159;receptor signaling complex scaffold activity;IMP|GO:0030276;clathrin binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:0035615;clathrin adaptor activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLRAP1		https://hpo.jax.org/app/browse/search?q=LDLRAP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605747	http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAP1&submit=Quick%0D%10151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAP1	rs6661159	0.439297	0	0	1	0	0	intronic	intronic	intronic	LDLRAP1	LDLRAP1	ENSG00000157978	Na	Na	Na	Na	Na	Na	Het;A>G	484;13|16	Hom;A>G	1597;0|49
N	N	-	1	25890189	25890189	A	G	snp	synonymous SNV	A654G	T218T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LDLRAP1	Ldlrap1	ENSG00000157978	low density lipoprotein receptor adaptor protein 1	chr1:25870071-25895377	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]	cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|Myocardial Infarction	Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).	LDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0031623;receptor internalization;IMP|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0042632;cholesterol homeostasis;IMP|GO:0042982;amyloid precursor protein metabolic process;IMP|GO:0043393;regulation of protein binding;IMP|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:0090205;positive regulation of cholesterol metabolic process;IC|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;ISS|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0009925;basal plasma membrane;IDA|GO:0030121;AP-1 adaptor complex;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030424;axon;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0055037;recycling endosome;IDA	GO:0001540;beta-amyloid binding;IPI|GO:0001784;phosphotyrosine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0030159;receptor signaling complex scaffold activity;IMP|GO:0030276;clathrin binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:0035615;clathrin adaptor activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LDLRAP1		https://hpo.jax.org/app/browse/search?q=LDLRAP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605747	http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAP1&submit=Quick%0D%10151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAP1	rs28969504	0.586262	0.6322	0.5515	1	0	0	exonic	exonic	exonic	LDLRAP1	LDLRAP1	ENSG00000157978	synonymous SNV	synonymous SNV	synonymous SNV	LDLRAP1:NM_015627:exon7:c.A654G:p.T218T,	LDLRAP1:uc001bkl.4:exon7:c.A654G:p.T218T,LDLRAP1:uc009vrx.3:exon2:c.A144G:p.T48T,	ENSG00000157978:ENST00000374338:exon7:c.A654G:p.T218T,	Het;A>G	2345;104|111	Hom;A>G	5456;0|205
N	N	-	1	26517667	26517667	T	C	snp	intronic	 	 	 	 	CATSPER4	Catsper4	ENSG00000188782	cation channel sperm associated 4	chr1:26517052-26529459	Given their putative effect on protein structure, their location in conserved sequences or functional domains, and their absence in controls, the identified mutations may be a cause of asthenozoospermia in humans.	Chronic renal failure|Kidney Failure, Chronic; Heart Failure; height; skeletal frame size; Height; Body Height	Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032570;response to progesterone;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0048240;sperm capacitation;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036128;CatSper complex;IEA|GO:0042995;cell projection;IEA|GO:0097228;sperm principal piece;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0072345;NAADP-sensitive calcium-release channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CATSPER4			https://www.ncbi.nlm.nih.gov/omim/?term=609121	http://www.informatics.jax.org/searchtool/Search.do?query=CATSPER4&submit=Quick%0D%16108ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPER4	rs11247864	0.295527	0	0	1	0	0	intronic	intronic	intronic	CATSPER4	CATSPER4	ENSG00000188782	Na	Na	Na	Na	Na	Na	Het;T>C	36;3|2	Hom;T>C	128;0|4
N	N	-	1	26524016	26524016	T	A	snp	intronic	 	 	 	 	CATSPER4	Catsper4	ENSG00000188782	cation channel sperm associated 4	chr1:26517052-26529459	Given their putative effect on protein structure, their location in conserved sequences or functional domains, and their absence in controls, the identified mutations may be a cause of asthenozoospermia in humans.	Chronic renal failure|Kidney Failure, Chronic; Heart Failure; height; skeletal frame size; Height; Body Height	Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032570;response to progesterone;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0048240;sperm capacitation;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036128;CatSper complex;IEA|GO:0042995;cell projection;IEA|GO:0097228;sperm principal piece;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0072345;NAADP-sensitive calcium-release channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CATSPER4			https://www.ncbi.nlm.nih.gov/omim/?term=609121	http://www.informatics.jax.org/searchtool/Search.do?query=CATSPER4&submit=Quick%0D%16108ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPER4	rs10902719	0.672324	0	0	1	0	0	intronic	intronic	intronic	CATSPER4	CATSPER4	ENSG00000188782	Na	Na	Na	Na	Na	Na	Het;T>A	97;2|4	Hom;T>A	106;0|4
N	N	-	1	26524706	26524706	A	G	snp	intronic	 	 	 	 	CATSPER4	Catsper4	ENSG00000188782	cation channel sperm associated 4	chr1:26517052-26529459	Given their putative effect on protein structure, their location in conserved sequences or functional domains, and their absence in controls, the identified mutations may be a cause of asthenozoospermia in humans.	Chronic renal failure|Kidney Failure, Chronic; Heart Failure; height; skeletal frame size; Height; Body Height	Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032570;response to progesterone;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0048240;sperm capacitation;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036128;CatSper complex;IEA|GO:0042995;cell projection;IEA|GO:0097228;sperm principal piece;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0072345;NAADP-sensitive calcium-release channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CATSPER4			https://www.ncbi.nlm.nih.gov/omim/?term=609121	http://www.informatics.jax.org/searchtool/Search.do?query=CATSPER4&submit=Quick%0D%16108ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPER4	rs9970046	0.672524	0	0	1	0	0	intronic	intronic	intronic	CATSPER4	CATSPER4	ENSG00000188782	Na	Na	Na	Na	Na	Na	Het;A>G	552;21|21	Hom;A>G	1285;0|39
N	N	-	1	26545946	26545946	A	C	snp	ncRNA_intronic	 	 	 	 	AL355877.1																		rs6697521	0.72484	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CATSPER4(dist=16913),LOC101928303(dist=5865)	CATSPER4(dist=16913),BC030768(dist=5865)	ENSG00000236155	Na	Na	Na	Na	Na	Na	Het;A>C	218;29|13	Hom;A>C	1436;0|49
N	N	-	1	26546107	26546108	AT	A	indel	ncRNA_intronic	 	 	 	 	AL355877.1																		rs56050270	0.717053	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CATSPER4(dist=17074),LOC101928303(dist=5703)	CATSPER4(dist=17074),BC030768(dist=5703)	ENSG00000236155	Na	Na	Na	Na	Na	Na	Het;-T	236;24|16	Hom;-T	862;2|39
N	N	-	1	26551945	26551945	T	G	snp	ncRNA_exonic	 	 	 	 	LOC101928303																		rs6702987	0.724042	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101928303	BC030768	ENSG00000236155	Na	Na	Na	Na	Na	Na	Het;T>G	1326;54|60	Hom;T>G	2766;0|99
N	N	-	1	26583998	26583998	T	C	snp	intronic	 	 	 	 	CEP85	Cep85	ENSG00000130695	centrosomal protein 85	chr1:26560691-26605299	This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006469;negative regulation of protein kinase activity;IMP|GO:0007059;chromosome segregation;IEA|GO:0046602;regulation of mitotic centrosome separation;IMP	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP85	https://www.uniprot.org/uniprot/Q6P2H3			http://www.informatics.jax.org/searchtool/Search.do?query=CEP85&submit=Quick%0D%6411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85	rs4659417	0.726438	0	0	1	0	0	intronic	intronic	intronic	CEP85	CEP85	ENSG00000130695	Na	Na	Na	Na	Na	Na	Het;T>C	279;7|13	Hom;T>C	676;0|20
N	N	-	1	26597435	26597435	G	A	snp	intronic	 	 	 	 	CEP85	Cep85	ENSG00000130695	centrosomal protein 85	chr1:26560691-26605299	This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006469;negative regulation of protein kinase activity;IMP|GO:0007059;chromosome segregation;IEA|GO:0046602;regulation of mitotic centrosome separation;IMP	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP85	https://www.uniprot.org/uniprot/Q6P2H3			http://www.informatics.jax.org/searchtool/Search.do?query=CEP85&submit=Quick%0D%6411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85	rs4659419	0.726438	0	0	1	0	0	intronic	intronic	intronic	CEP85	CEP85	ENSG00000130695	Na	Na	Na	Na	Na	Na	Het;G>A	427;37|22	Hom;G>A	698;0|24
N	N	-	1	26609307	26609307	G	T	snp	intronic	 	 	 	 	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs6598952	0.726238	0.9186	0.8272	1	0	0	intronic	intronic	intronic	UBXN11	UBXN11	ENSG00000158062	Na	Na	Na	Na	Na	Na	Het;G>T	1914;132|91	Hom;G>T	5161;0|180
N	N	-	1	26610891	26610891	A	C	snp	nonsynonymous SNV	T575G	L192R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs4332350	0.727037	0.9192	0.8276	0.08	1	13	exonic	exonic	exonic	UBXN11	UBXN11	ENSG00000158062	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_183008:exon12:c.T935G:p.L312R,UBXN11:NM_145345:exon11:c.T836G:p.L279R,	UBXN11:uc001bly.3:exon7:c.T575G:p.L192R,UBXN11:uc001blz.1:exon10:c.T836G:p.L279R,UBXN11:uc001blw.3:exon12:c.T935G:p.L312R,UBXN11:uc001bma.3:exon11:c.T836G:p.L279R,UBXN11:uc001blx.3:exon8:c.T209G:p.L70R,	ENSG00000158062:ENST00000374222:exon12:c.T935G:p.L312R,ENSG00000158062:ENST00000374217:exon11:c.T836G:p.L279R,ENSG00000158062:ENST00000374221:exon12:c.T935G:p.L312R,ENSG00000158062:ENST00000314675:exon7:c.T575G:p.L192R,ENSG00000158062:ENST00000357089:exon10:c.T836G:p.L279R,ENSG00000158062:ENST00000374223:exon8:c.T206G:p.L69R,	Het;A>C	882;85|45	Hom;A>C	3572;0|129
N	N	-	1	26612042	26612042	A	G	snp	intronic	 	 	 	 	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs11247898	0.722843	0.9185	0.8326	1	0	0	intronic	intronic	intronic	UBXN11	UBXN11	ENSG00000158062	Na	Na	Na	Na	Na	Na	Het;A>G	285;10|15	Hom;A>G	928;0|37
N	N	-	1	26620846	26620846	C	CA	indel	intronic	 	 	 	 	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs3832184	0.719449	0.9131	0.8237	1	0	0	intronic	intronic	intronic	UBXN11	UBXN11	ENSG00000158062	Na	Na	Na	Na	Na	Na	Het;+A	1490;48|46	Hom;+A	2078;0|55
N	N	-	1	26624327	26624327	G	A	snp	intronic	 	 	 	 	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs4290051	0.719848	0	0	1	0	0	intronic	intronic	intronic	UBXN11	UBXN11	ENSG00000158062	Na	Na	Na	Na	Na	Na	Het;G>A	205;10|10	Hom;G>A	177;0|7
N	N	-	1	26627283	26627283	A	G	snp	intronic	 	 	 	 	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs4291487	0.720048	0	0	1	0	0	intronic	intronic	intronic	UBXN11	UBXN11	ENSG00000158062	Na	Na	Na	Na	Na	Na	Het;A>G	177;11|8	Hom;A>G	240;0|8
N	N	-	1	26627478	26627478	T	C	snp	synonymous SNV	A138G	S46S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs2276712	0.567292	0.7276	0.6687	1	0	0	exonic	exonic	exonic	UBXN11	UBXN11	ENSG00000158062	synonymous SNV	synonymous SNV	synonymous SNV	UBXN11:NM_001077262:exon4:c.A138G:p.S46S,UBXN11:NM_183008:exon5:c.A138G:p.S46S,	UBXN11:uc001bly.3:exon4:c.A138G:p.S46S,UBXN11:uc001blw.3:exon5:c.A138G:p.S46S,	ENSG00000158062:ENST00000421827:exon4:c.A138G:p.S46S,ENSG00000158062:ENST00000374222:exon5:c.A138G:p.S46S,ENSG00000158062:ENST00000423664:exon5:c.A24G:p.S8S,ENSG00000158062:ENST00000374221:exon5:c.A138G:p.S46S,ENSG00000158062:ENST00000314675:exon4:c.A138G:p.S46S,ENSG00000158062:ENST00000374215:exon4:c.A24G:p.S8S,	Het;T>C	1650;86|81	Hom;T>C	3917;2|151
N	N	-	1	26629465	26629465	G	C	snp	UTR5	-91C>G	 	 	 	UBXN11	Ubxn11	ENSG00000158062	UBX domain protein 11	chr1:26607819-26644854	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 		GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBXN11			https://www.ncbi.nlm.nih.gov/omim/?term=609151	http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11	rs11803933	0.567891	0	0	1	0	0	intronic	intronic	UTR5	UBXN11	UBXN11	ENSG00000158062(ENST00000442942:c.-91C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	194;10|10	Hom;G>C	255;0|10
N	N	-	1	26646726	26646726	A	G	snp	nonsynonymous SNV	A119G	N40S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CD52	 	ENSG00000169442	CD52 molecule	chr1:26644448-26647014			Mice homozygous for a null mutation are viable with no gross abnormalities and no defects in sperm development or function.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0045730;respiratory burst;NAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CD52			https://www.ncbi.nlm.nih.gov/omim/?term=114280	http://www.informatics.jax.org/searchtool/Search.do?query=CD52&submit=Quick%0D%12497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD52	rs1071849	0.580671	0.7320	0.6711	0.08	1	12	exonic	exonic	exonic	CD52	CD52	ENSG00000169442	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CD52:NM_001803:exon2:c.A119G:p.N40S,	CD52:uc001bmc.3:exon2:c.A119G:p.N40S,	ENSG00000169442:ENST00000374213:exon2:c.A119G:p.N40S,	Het;A>G	1358;36|36	Hom;A>G	4271;0|96
N	N	-	1	26646730	26646730	A	G	snp	nonsynonymous SNV	A123G	I41M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CD52	 	ENSG00000169442	CD52 molecule	chr1:26644448-26647014			Mice homozygous for a null mutation are viable with no gross abnormalities and no defects in sperm development or function.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0045730;respiratory burst;NAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CD52			https://www.ncbi.nlm.nih.gov/omim/?term=114280	http://www.informatics.jax.org/searchtool/Search.do?query=CD52&submit=Quick%0D%12497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD52	rs17645	0.580671	0.7320	0.6711	0.17	2	12	exonic	exonic	exonic	CD52	CD52	ENSG00000169442	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CD52:NM_001803:exon2:c.A123G:p.I41M,	CD52:uc001bmc.3:exon2:c.A123G:p.I41M,	ENSG00000169442:ENST00000374213:exon2:c.A123G:p.I41M,	Het;A>G	1323;37|34	Hom;A>G	4197;0|97
N	N	-	1	26648551	26648551	G	C	snp	intronic	 	 	 	 	AIM1L	Aim1l																	rs11247913	0.559704	0.7079	0.6672	1	0	0	intronic	intronic	intronic	AIM1L	AIM1L	ENSG00000176092	Na	Na	Na	Na	Na	Na	Het;G>C	1067;31|43	Hom;G>C	1934;0|71
N	N	-	1	26654937	26654937	G	C	snp	intronic	 	 	 	 	AIM1L	Aim1l																	rs11589684	0.678914	0	0	1	0	0	intronic	intronic	intronic	AIM1L	AIM1L	ENSG00000176092	Na	Na	Na	Na	Na	Na	Het;G>C	215;26|11	Hom;G>C	1095;0|34
N	N	-	1	26662774	26662774	C	T	snp	intronic	 	 	 	 	AIM1L	Aim1l																	rs7517559	0.671126	0.8268	0	1	0	0	intronic	intronic	intronic	AIM1L	AIM1L	ENSG00000176092	Na	Na	Na	Na	Na	Na	Het;C>T	422;13|20	Hom;C>T	687;1|27
N	N	-	1	27876482	27876482	C	A	snp	synonymous SNV	G2145T	P715P	hydrophobic,neutral	hydrophobic,neutral	AHDC1	Ahdc1	ENSG00000126705	AT-hook DNA binding motif containing 1	chr1:27860546-27930942	This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]	Xia-Gibbs syndrome	 				GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AHDC1	https://www.uniprot.org/uniprot/Q5TGY3	https://hpo.jax.org/app/browse/search?q=AHDC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615790	http://www.informatics.jax.org/searchtool/Search.do?query=AHDC1&submit=Quick%0D%5960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHDC1	rs2076457	0.792931	0.7169	0.6813	1	0	0	exonic	exonic	exonic	AHDC1	AHDC1	ENSG00000126705	synonymous SNV	synonymous SNV	synonymous SNV	AHDC1:NM_001029882:exon6:c.G2145T:p.P715P,	AHDC1:uc009vsz.1:exon5:c.G2145T:p.P715P,AHDC1:uc021ojw.1:exon1:c.G2145T:p.P715P,AHDC1:uc009vsy.3:exon6:c.G2145T:p.P715P,	ENSG00000126705:ENST00000247087:exon5:c.G2145T:p.P715P,ENSG00000126705:ENST00000374011:exon6:c.G2145T:p.P715P,	Het;C>A	712;43|35	Hom;C>A	2828;0|104
N	N	-	1	27975910	27975910	C	G	snp	upstream	 	 	 	 	AL031729.1																		rs475570	0.283147	0	0	1	0	0	intergenic	intergenic	upstream	FGR(dist=14183),IFI6(dist=16662)	FGR(dist=14183),IFI6(dist=16662)	ENSG00000235912	Na	Na	Na	Na	Na	Na	Het;C>G	121;4|6	Hom;C>G	685;0|25
N	N	-	1	27975941	27975941	C	T	snp	ncRNA_exonic	 	 	 	 	AL031729.1																		rs474802	0.216254	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FGR(dist=14214),IFI6(dist=16631)	FGR(dist=14214),IFI6(dist=16631)	ENSG00000235912	Na	Na	Na	Na	Na	Na	Het;C>T	75;2|4	Hom;C>T	493;0|19
N	N	-	1	29586703	29586703	A	C	snp	intronic	 	 	 	 	PTPRU	Ptpru	ENSG00000060656	protein tyrosine phosphatase, receptor type U	chr1:29563028-29653325	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]	Heart Rate; Body Weight; Schizophrenia; Blood Pressure; Triglycerides; Bipolar Disorder; Body Mass Index; Heart Failure; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Cholesterol, LDL; Diabetes Mellitus, Type 2; Cholesterol, HDL; Tobacco Use Disorder; Smoking; Chronic renal failure|Kidney Failure, Chronic; Body Height; Dehydroepiandrosterone; Prostatic Neoplasms	 	Signaling by SCF-KIT	GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016311;dephosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031100;animal organ regeneration;IEA|GO:0034109;homotypic cell-cell adhesion;IEA|GO:0034394;protein localization to cell surface;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRU	https://www.uniprot.org/uniprot/Q92729		https://www.ncbi.nlm.nih.gov/omim/?term=602454	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRU&submit=Quick%0D%1064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRU	rs12404526	0.257388	0	0	1	0	0	intronic	intronic	intronic	PTPRU	PTPRU	ENSG00000060656	Na	Na	Na	Na	Na	Na	Het;A>C	90;3|5	Hom;A>C	147;0|6
N	N	-	1	29602320	29602320	G	A	snp	intronic	 	 	 	 	PTPRU	Ptpru	ENSG00000060656	protein tyrosine phosphatase, receptor type U	chr1:29563028-29653325	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]	Heart Rate; Body Weight; Schizophrenia; Blood Pressure; Triglycerides; Bipolar Disorder; Body Mass Index; Heart Failure; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Cholesterol, LDL; Diabetes Mellitus, Type 2; Cholesterol, HDL; Tobacco Use Disorder; Smoking; Chronic renal failure|Kidney Failure, Chronic; Body Height; Dehydroepiandrosterone; Prostatic Neoplasms	 	Signaling by SCF-KIT	GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016311;dephosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031100;animal organ regeneration;IEA|GO:0034109;homotypic cell-cell adhesion;IEA|GO:0034394;protein localization to cell surface;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRU	https://www.uniprot.org/uniprot/Q92729		https://www.ncbi.nlm.nih.gov/omim/?term=602454	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRU&submit=Quick%0D%1064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRU	rs76920782	0.310104	0.1195	0.2002	1	0	0	intronic	intronic	intronic	PTPRU	PTPRU	ENSG00000060656	Na	Na	Na	Na	Na	Na	Het;G>A	720;38|35	Hom;G>A	2003;0|74
N	N	-	1	29609502	29609503	TG	T	indel	intronic	 	 	 	 	PTPRU	Ptpru	ENSG00000060656	protein tyrosine phosphatase, receptor type U	chr1:29563028-29653325	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]	Heart Rate; Body Weight; Schizophrenia; Blood Pressure; Triglycerides; Bipolar Disorder; Body Mass Index; Heart Failure; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Cholesterol, LDL; Diabetes Mellitus, Type 2; Cholesterol, HDL; Tobacco Use Disorder; Smoking; Chronic renal failure|Kidney Failure, Chronic; Body Height; Dehydroepiandrosterone; Prostatic Neoplasms	 	Signaling by SCF-KIT	GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016311;dephosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031100;animal organ regeneration;IEA|GO:0034109;homotypic cell-cell adhesion;IEA|GO:0034394;protein localization to cell surface;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRU	https://www.uniprot.org/uniprot/Q92729		https://www.ncbi.nlm.nih.gov/omim/?term=602454	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRU&submit=Quick%0D%1064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRU	rs111595207	0.460463	0.2881	0.2998	1	0	0	intronic	intronic	intronic	PTPRU	PTPRU	ENSG00000060656	Na	Na	Na	Na	Na	Na	Het;-G	229;17|11	Hom;-G	1642;0|53
N	N	-	1	29609536	29609536	G	A	snp	intronic	 	 	 	 	PTPRU	Ptpru	ENSG00000060656	protein tyrosine phosphatase, receptor type U	chr1:29563028-29653325	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]	Heart Rate; Body Weight; Schizophrenia; Blood Pressure; Triglycerides; Bipolar Disorder; Body Mass Index; Heart Failure; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Cholesterol, LDL; Diabetes Mellitus, Type 2; Cholesterol, HDL; Tobacco Use Disorder; Smoking; Chronic renal failure|Kidney Failure, Chronic; Body Height; Dehydroepiandrosterone; Prostatic Neoplasms	 	Signaling by SCF-KIT	GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016311;dephosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031100;animal organ regeneration;IEA|GO:0034109;homotypic cell-cell adhesion;IEA|GO:0034394;protein localization to cell surface;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRU	https://www.uniprot.org/uniprot/Q92729		https://www.ncbi.nlm.nih.gov/omim/?term=602454	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRU&submit=Quick%0D%1064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRU	rs72884571	0.328275	0	0	1	0	0	intronic	intronic	intronic	PTPRU	PTPRU	ENSG00000060656	Na	Na	Na	Na	Na	Na	Het;G>A	121;12|7	Hom;G>A	1032;0|37
N	N	-	1	29630455	29630455	C	T	snp	synonymous SNV	C2595T	Y865Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	PTPRU	Ptpru	ENSG00000060656	protein tyrosine phosphatase, receptor type U	chr1:29563028-29653325	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]	Heart Rate; Body Weight; Schizophrenia; Blood Pressure; Triglycerides; Bipolar Disorder; Body Mass Index; Heart Failure; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Cholesterol, LDL; Diabetes Mellitus, Type 2; Cholesterol, HDL; Tobacco Use Disorder; Smoking; Chronic renal failure|Kidney Failure, Chronic; Body Height; Dehydroepiandrosterone; Prostatic Neoplasms	 	Signaling by SCF-KIT	GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016311;dephosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031100;animal organ regeneration;IEA|GO:0034109;homotypic cell-cell adhesion;IEA|GO:0034394;protein localization to cell surface;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRU	https://www.uniprot.org/uniprot/Q92729		https://www.ncbi.nlm.nih.gov/omim/?term=602454	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRU&submit=Quick%0D%1064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRU	rs2295061	0.3752	0.2019	0.2631	1	0	0	exonic	exonic	exonic	PTPRU	PTPRU	ENSG00000060656	synonymous SNV	synonymous SNV	synonymous SNV	PTPRU:NM_133178:exon16:c.C2565T:p.Y855Y,PTPRU:NM_001195001:exon16:c.C2565T:p.Y855Y,PTPRU:NM_005704:exon17:c.C2595T:p.Y865Y,PTPRU:NM_133177:exon16:c.C2565T:p.Y855Y,	PTPRU:uc001bru.3:exon17:c.C2595T:p.Y865Y,PTPRU:uc001brw.3:exon16:c.C2565T:p.Y855Y,PTPRU:uc009vtr.3:exon16:c.C2565T:p.Y855Y,PTPRU:uc009vtq.3:exon16:c.C2565T:p.Y855Y,	ENSG00000060656:ENST00000345512:exon17:c.C2595T:p.Y865Y,ENSG00000060656:ENST00000356870:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000428026:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000460170:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000323874:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000373779:exon16:c.C2565T:p.Y855Y,	Het;C>T	1535;42|73	Hom;C>T	2238;0|85
N	N	-	1	29633491	29633491	T	TCAGCC	indel	intronic	 	 	 	 	PTPRU	Ptpru	ENSG00000060656	protein tyrosine phosphatase, receptor type U	chr1:29563028-29653325	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]	Heart Rate; Body Weight; Schizophrenia; Blood Pressure; Triglycerides; Bipolar Disorder; Body Mass Index; Heart Failure; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Cholesterol, LDL; Diabetes Mellitus, Type 2; Cholesterol, HDL; Tobacco Use Disorder; Smoking; Chronic renal failure|Kidney Failure, Chronic; Body Height; Dehydroepiandrosterone; Prostatic Neoplasms	 	Signaling by SCF-KIT	GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016311;dephosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031100;animal organ regeneration;IEA|GO:0034109;homotypic cell-cell adhesion;IEA|GO:0034394;protein localization to cell surface;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRU	https://www.uniprot.org/uniprot/Q92729		https://www.ncbi.nlm.nih.gov/omim/?term=602454	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRU&submit=Quick%0D%1064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRU	rs3835409	0.409545	0	0	1	0	0	intronic	intronic	intronic	PTPRU	PTPRU	ENSG00000060656	Na	Na	Na	Na	Na	Na	Het;+CAGCC	324;3|7	Hom;+CAGCC	782;0|17
N	N	-	1	3073555	3073555	T	C	snp	intronic	 	 	 	 	PRDM16	Prdm16	ENSG00000142611	PR/SET domain 16	chr1:2985732-3355185	The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Cholesterol; Hemoglobins; Celiac Disease|; Tunica Media; Migraine Disorders; Cleft Lip|Cleft Palate; Erythrocyte Count; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Neoplasms; Breath Tests	Mutant mice exhibit a cleft secondary palate, whitening of brown adipose tissue in older or fed a high-fat diet, and impaired adaptive thermogenesis.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0022008;neurogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0034968;histone lysine methylation;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0043457;regulation of cellular respiration;ISS|GO:0043586;tongue development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0050872;white fat cell differentiation;IEA|GO:0050873;brown fat cell differentiation;ISS|GO:0060021;palate development;IEA|GO:0090336;positive regulation of brown fat cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA|GO:0017053;transcriptional repressor complex;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;ISS|GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDM16	https://www.uniprot.org/uniprot/Q9HAZ2	https://hpo.jax.org/app/browse/search?q=PRDM16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605557	http://www.informatics.jax.org/searchtool/Search.do?query=PRDM16&submit=Quick%0D%8308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM16	rs207200	0.703674	0	0	1	0	0	intronic	intronic	intronic	PRDM16	PRDM16	ENSG00000142611	Na	Na	Na	Na	Na	Na	Het;T>C	754;39|34	Hom;T>C	2202;0|79
N	N	-	1	31905730	31905730	T	C	snp	intronic	 	 	 	 	SERINC2	Serinc2	ENSG00000168528	serine incorporator 2	chr1:31882412-31907525			 	Serine biosynthesis	GO:0006658;phosphatidylserine metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0015825;L-serine transport;IEA|GO:1904219;positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity;IEA|GO:1904222;positive regulation of serine C-palmitoyltransferase activity;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0015194;L-serine transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SERINC2			https://www.ncbi.nlm.nih.gov/omim/?term=614549	http://www.informatics.jax.org/searchtool/Search.do?query=SERINC2&submit=Quick%0D%12293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERINC2	rs7547845	0.739018	0	0	1	0	0	intronic	intronic	intronic	SERINC2	SERINC2	ENSG00000168528	Na	Na	Na	Na	Na	Na	Het;T>C	88;7|4	Hom;T>C	589;0|17
N	N	-	1	32280610	32280610	T	C	snp	nonsynonymous SNV	A325G	T109A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SPOCD1	Spocd1	ENSG00000134668	SPOC domain containing 1	chr1:32256023-32281652	This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0010923;negative regulation of phosphatase activity;IDA			http://www.genecards.org/index.php?path=/Search/keyword/SPOCD1	https://www.uniprot.org/uniprot/Q6ZMY3			http://www.informatics.jax.org/searchtool/Search.do?query=SPOCD1&submit=Quick%0D%7012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPOCD1	rs6664445	0.6875	0.6718	0.6822	0.08	1	12	exonic	exonic	exonic	SPOCD1	SPOCD1	ENSG00000134668	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.A325G:p.T109A,SPOCD1:NM_144569:exon2:c.A325G:p.T109A,	SPOCD1:uc001bts.1:exon2:c.A325G:p.T109A,SPOCD1:uc001btu.3:exon2:c.A325G:p.T109A,	ENSG00000134668:ENST00000360482:exon2:c.A325G:p.T109A,ENSG00000134668:ENST00000533231:exon1:c.A325G:p.T109A,ENSG00000134668:ENST00000373648:exon2:c.A325G:p.T109A,	Het;T>C	1788;67|74	Hom;T>C	3213;2|105
N	N	-	1	32658062	32658062	G	GGT	indel	intronic	 	 	 	 	TXLNA	Txlna	ENSG00000084652	taxilin alpha	chr1:32645287-32663886			 	Other interleukin signaling	GO:0006887;exocytosis;IEA|GO:0008283;cell proliferation;NAS|GO:0042113;B cell activation;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA	GO:0005125;cytokine activity;NAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IEA|GO:0030372;high molecular weight B cell growth factor receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TXLNA	https://www.uniprot.org/uniprot/P40222		https://www.ncbi.nlm.nih.gov/omim/?term=608676	http://www.informatics.jax.org/searchtool/Search.do?query=TXLNA&submit=Quick%0D%1865ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXLNA	rs397808632	0.828474	0.7129	0.6983	1	0	0	intronic	intronic	intronic	TXLNA	TXLNA	ENSG00000084652	Na	Na	Na	Na	Na	Na	Het;+GT	945;27|28	Hom;+GT	3125;0|73
N	N	-	1	3301721	3301721	C	T	snp	synonymous SNV	C444T	S148S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRDM16	Prdm16	ENSG00000142611	PR/SET domain 16	chr1:2985732-3355185	The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Cholesterol; Hemoglobins; Celiac Disease|; Tunica Media; Migraine Disorders; Cleft Lip|Cleft Palate; Erythrocyte Count; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Neoplasms; Breath Tests	Mutant mice exhibit a cleft secondary palate, whitening of brown adipose tissue in older or fed a high-fat diet, and impaired adaptive thermogenesis.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0022008;neurogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0034968;histone lysine methylation;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0043457;regulation of cellular respiration;ISS|GO:0043586;tongue development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0050872;white fat cell differentiation;IEA|GO:0050873;brown fat cell differentiation;ISS|GO:0060021;palate development;IEA|GO:0090336;positive regulation of brown fat cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA|GO:0017053;transcriptional repressor complex;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;ISS|GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDM16	https://www.uniprot.org/uniprot/Q9HAZ2	https://hpo.jax.org/app/browse/search?q=PRDM16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605557	http://www.informatics.jax.org/searchtool/Search.do?query=PRDM16&submit=Quick%0D%8308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM16	rs2282198	0.340455	0.2049	0.3295	1	0	0	exonic	exonic	exonic	PRDM16	PRDM16	ENSG00000142611	synonymous SNV	synonymous SNV	synonymous SNV	PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S,	PRDM16:uc001akc.3:exon4:c.C444T:p.S148S,PRDM16:uc001ake.3:exon4:c.C444T:p.S148S,PRDM16:uc001akf.3:exon4:c.C444T:p.S148S,	ENSG00000142611:ENST00000463591:exon2:c.C12T:p.S4S,ENSG00000142611:ENST00000514189:exon4:c.C447T:p.S149S,ENSG00000142611:ENST00000378398:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000378391:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000511072:exon4:c.C447T:p.S149S,ENSG00000142611:ENST00000442529:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000270722:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000441472:exon4:c.C444T:p.S148S,	Het;C>T	420;18|21	Hom;C>T	1391;0|52
N	N	-	1	33066299	33066299	C	A	snp	UTR3	*279C>A	 	 	 	ZBTB8A	Zbtb8a	ENSG00000160062	zinc finger and BTB domain containing 8A	chr1:33005028-33071540		Body Height; Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB8A				http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB8A&submit=Quick%0D%10396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB8A	rs2294815	0.175319	0	0	1	0	0	UTR3	UTR3	UTR3	ZBTB8A(NM_001291496:c.*401C>A,NM_001040441:c.*279C>A)	ZBTB8A(uc001bvn.3:c.*279C>A)	ENSG00000160062(ENST00000373510:c.*279C>A,ENST00000316459:c.*401C>A),ENSG00000254553(ENST00000480336:c.*1724C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	1217;61|58	Hom;C>A	3933;3|145
N	N	-	1	33068754	33068754	T	C	snp	UTR3	*2734T>C	 	 	 	ZBTB8A	Zbtb8a	ENSG00000160062	zinc finger and BTB domain containing 8A	chr1:33005028-33071540		Body Height; Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB8A				http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB8A&submit=Quick%0D%10396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB8A	rs422215	0.583067	0	0	1	0	0	UTR3	UTR3	UTR3	ZBTB8A(NM_001291496:c.*2856T>C,NM_001040441:c.*2734T>C)	ZBTB8A(uc001bvn.3:c.*2734T>C)	ENSG00000160062(ENST00000373510:c.*2734T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	682;44|34	Hom;T>C	2460;0|88
N	N	-	1	3312914	3312914	T	G	snp	intronic	 	 	 	 	PRDM16	Prdm16	ENSG00000142611	PR/SET domain 16	chr1:2985732-3355185	The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Cholesterol; Hemoglobins; Celiac Disease|; Tunica Media; Migraine Disorders; Cleft Lip|Cleft Palate; Erythrocyte Count; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Neoplasms; Breath Tests	Mutant mice exhibit a cleft secondary palate, whitening of brown adipose tissue in older or fed a high-fat diet, and impaired adaptive thermogenesis.	PKMTs methylate histone lysines	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0022008;neurogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0034968;histone lysine methylation;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0043457;regulation of cellular respiration;ISS|GO:0043586;tongue development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0050872;white fat cell differentiation;IEA|GO:0050873;brown fat cell differentiation;ISS|GO:0060021;palate development;IEA|GO:0090336;positive regulation of brown fat cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA|GO:0017053;transcriptional repressor complex;ISS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;ISS|GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDM16	https://www.uniprot.org/uniprot/Q9HAZ2	https://hpo.jax.org/app/browse/search?q=PRDM16&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605557	http://www.informatics.jax.org/searchtool/Search.do?query=PRDM16&submit=Quick%0D%8308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM16	rs871822	0.460264	0	0.4336	1	0	0	intronic	intronic	intronic	PRDM16	PRDM16	ENSG00000142611	Na	Na	Na	Na	Na	Na	Het;T>G	71;6|4	Hom;T>G	144;0|5
N	N	-	1	33322919	33322920	CT	C	indel	UTR3	*1280_*1281delinsC	 	 	 	S100PBP	S100pbp	ENSG00000116497	S100P binding protein	chr1:33282368-33324476	This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]		 			GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0048306;calcium-dependent protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/S100PBP	https://www.uniprot.org/uniprot/Q96BU1		https://www.ncbi.nlm.nih.gov/omim/?term=611889	http://www.informatics.jax.org/searchtool/Search.do?query=S100PBP&submit=Quick%0D%4746ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100PBP	rs11357885	0.661941	0	0	1	0	0	UTR3	UTR3	UTR3	S100PBP(NM_001256121:c.*1280_*1281delinsC,NM_022753:c.*1280_*1281delinsC)	S100PBP(uc001bvz.4:c.*1280_*1281delinsC,uc001bwc.4:c.*1280_*1281delinsC)	ENSG00000116497(ENST00000373476:c.*1280_*1281delinsC,ENST00000373475:c.*1280_*1281delinsC)	Na	Na	Na	Na	Na	Na	Het;-T	340;21|20	Hom;-T	528;1|24
N	N	-	1	33324136	33324136	T	C	snp	UTR3	*2497T>C	 	 	 	S100PBP	S100pbp	ENSG00000116497	S100P binding protein	chr1:33282368-33324476	This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]		 			GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0048306;calcium-dependent protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/S100PBP	https://www.uniprot.org/uniprot/Q96BU1		https://www.ncbi.nlm.nih.gov/omim/?term=611889	http://www.informatics.jax.org/searchtool/Search.do?query=S100PBP&submit=Quick%0D%4746ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100PBP	rs9500	0.67472	0	0	1	0	0	UTR3	UTR3	UTR3	S100PBP(NM_001256121:c.*2497T>C,NM_022753:c.*2497T>C)	S100PBP(uc001bvz.4:c.*2497T>C,uc001bwc.4:c.*2497T>C)	ENSG00000116497(ENST00000373475:c.*2497T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	3316;136|150	Hom;T>C	9099;0|330
N	N	-	1	33560338	33560338	A	G	snp	intronic	 	 	 	 	AZIN2	Azin2																	rs804428	0.988618	0.9604	0.9701	1	0	0	intronic	intronic	intronic	AZIN2	ADC	ENSG00000142920	Na	Na	Na	Na	Na	Na	Het;A>G	563;38|26	Hom;A>G	1358;0|50
N	N	-	1	33741615	33741615	T	A	snp	intronic	 	 	 	 	ZNF362	Zfp362	ENSG00000160094	zinc finger protein 362	chr1:33722146-33766320			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF362				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF362&submit=Quick%0D%10400ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF362	rs7514338	0.228235	0	0	1	0	0	intronic	intronic	intronic	ZNF362	ZNF362	ENSG00000160094	Na	Na	Na	Na	Na	Na	Het;T>A	324;22|16	Hom;T>A	594;0|22
N	N	-	1	34052605	34052605	A	G	snp	intronic	 	 	 	 	CSMD2	Csmd2	ENSG00000121904	CUB and Sushi multiple domains 2	chr1:33979609-34631443		Alcoholism; Lipoproteins; Brain structure ; Celiac Disease|; Type 2 Diabetes| edema | rosiglitazone; Inflammatory Bowel Diseases; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity; Brain; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; ADHD | attention-deficit hyperactivity disorder	 			GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD2	https://www.uniprot.org/uniprot/Q7Z408		https://www.ncbi.nlm.nih.gov/omim/?term=608398	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD2&submit=Quick%0D%5362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD2	rs7526990	0.697284	0	0	1	0	0	intronic	intronic	intronic	CSMD2	CSMD2	ENSG00000121904	Na	Na	Na	Na	Na	Na	Het;A>G	101;5|5	Hom;A>G	271;0|9
N	N	-	1	3413426	3413426	A	G	snp	intronic	 	 	 	 	MEGF6	Megf6	ENSG00000162591	multiple EGF like domains 6	chr1:3406484-3528059			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MEGF6			https://www.ncbi.nlm.nih.gov/omim/?term=604266	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF6&submit=Quick%0D%10735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF6	rs12405358	0.29393	0	0	1	0	0	intronic	intronic	intronic	MEGF6	MEGF6	ENSG00000162591	Na	Na	Na	Na	Na	Na	Het;A>G	629;16|25	Hom;A>G	892;0|31
N	N	-	1	3416449	3416449	C	A	snp	nonsynonymous SNV	G2747T	R916L	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	MEGF6	Megf6	ENSG00000162591	multiple EGF like domains 6	chr1:3406484-3528059			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MEGF6			https://www.ncbi.nlm.nih.gov/omim/?term=604266	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF6&submit=Quick%0D%10735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF6	rs7553399	0.568291	0.6374	0.7228	0.23	3	13	exonic	exonic	exonic	MEGF6	MEGF6	ENSG00000162591	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MEGF6:NM_001409:exon22:c.G2747T:p.R916L,	MEGF6:uc001akl.3:exon22:c.G2747T:p.R916L,MEGF6:uc001akk.3:exon19:c.G2432T:p.R811L,	ENSG00000162591:ENST00000294599:exon19:c.G2432T:p.R811L,ENSG00000162591:ENST00000356575:exon22:c.G2747T:p.R916L,ENSG00000162591:ENST00000485002:exon22:c.G2768T:p.R923L,	Het;C>A	971;32|46	Hom;C>A	1918;0|72
N	N	-	1	3417131	3417131	A	G	snp	intronic	 	 	 	 	MEGF6	Megf6	ENSG00000162591	multiple EGF like domains 6	chr1:3406484-3528059			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MEGF6			https://www.ncbi.nlm.nih.gov/omim/?term=604266	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF6&submit=Quick%0D%10735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF6	rs2821031	0.738618	0	0	1	0	0	intronic	intronic	intronic	MEGF6	MEGF6	ENSG00000162591	Na	Na	Na	Na	Na	Na	Het;A>G	356;10|16	Hom;A>G	285;0|10
N	N	-	1	3417960	3417960	G	A	snp	intronic	 	 	 	 	MEGF6	Megf6	ENSG00000162591	multiple EGF like domains 6	chr1:3406484-3528059			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MEGF6			https://www.ncbi.nlm.nih.gov/omim/?term=604266	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF6&submit=Quick%0D%10735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF6	rs4648507	0.571486	0	0	1	0	0	intronic	intronic	intronic	MEGF6	MEGF6	ENSG00000162591	Na	Na	Na	Na	Na	Na	Het;G>A	221;7|10	Hom;G>A	526;0|21
N	N	-	1	34238146	34238146	G	A	snp	UTR3	*16C>T	 	 	 	CSMD2	Csmd2	ENSG00000121904	CUB and Sushi multiple domains 2	chr1:33979609-34631443		Alcoholism; Lipoproteins; Brain structure ; Celiac Disease|; Type 2 Diabetes| edema | rosiglitazone; Inflammatory Bowel Diseases; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity; Brain; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; ADHD | attention-deficit hyperactivity disorder	 			GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD2	https://www.uniprot.org/uniprot/Q7Z408		https://www.ncbi.nlm.nih.gov/omim/?term=608398	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD2&submit=Quick%0D%5362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD2	rs76405888	0.0852636	0.0674	0.0895	1	0	0	intronic	intronic	UTR3	CSMD2	CSMD2	ENSG00000121904(ENST00000338325:c.*16C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	48;11|4	Hom;G>A	692;0|24
N	N	-	1	36203720	36203720	T	A	snp	intronic	 	 	 	 	CLSPN	Clspn	ENSG00000092853	claspin	chr1:36185819-36235568	The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]	breast cancer; Bipolar Disorder	Mice homozygous for a null mutation display embryonic lethality during organogenesis.	Processing of DNA double-strand break ends	GO:0000077;DNA damage checkpoint;IMP|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016579;protein deubiquitination;TAS|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0033314;mitotic DNA replication checkpoint;IMP|GO:0097194;execution phase of apoptosis;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010997;anaphase-promoting complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLSPN	https://www.uniprot.org/uniprot/Q9HAW4		https://www.ncbi.nlm.nih.gov/omim/?term=605434	http://www.informatics.jax.org/searchtool/Search.do?query=CLSPN&submit=Quick%0D%2204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSPN	rs201555109	0	0	0.3664	1	0	0	intronic	intronic	intronic	CLSPN	CLSPN	ENSG00000092853	Na	Na	Na	Na	Na	Na	Het;T>A	89;5|6	Hom;T>A	138;1|5
N	N	-	1	36203722	36203722	T	A	snp	intronic	 	 	 	 	CLSPN	Clspn	ENSG00000092853	claspin	chr1:36185819-36235568	The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]	breast cancer; Bipolar Disorder	Mice homozygous for a null mutation display embryonic lethality during organogenesis.	Processing of DNA double-strand break ends	GO:0000077;DNA damage checkpoint;IMP|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016579;protein deubiquitination;TAS|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0033314;mitotic DNA replication checkpoint;IMP|GO:0097194;execution phase of apoptosis;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010997;anaphase-promoting complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLSPN	https://www.uniprot.org/uniprot/Q9HAW4		https://www.ncbi.nlm.nih.gov/omim/?term=605434	http://www.informatics.jax.org/searchtool/Search.do?query=CLSPN&submit=Quick%0D%2204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSPN	rs199569493	0	0	0.4091	1	0	0	intronic	intronic	intronic	CLSPN	CLSPN	ENSG00000092853	Na	Na	Na	Na	Na	Na	Het;T>A	437;2|13	Hom;T>A	508;0|10
N	N	-	1	3644349	3644349	A	G	snp	intronic	 	 	 	 	TP73	Trp73	ENSG00000078900	tumor protein p73	chr1:3569084-3652765	This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]	colorectal cancer; esophageal cancer; stomach cancer; endometrial cancer; colorectal cancer; Colorectal Neoplasms; cervical cancer; Alzheimer's disease ; null; breast cancer ; lung cancer; Adenocarcinoma|Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; esophageal cancer; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; Adenocarcinoma|Pancreatic Neoplasms; squamous cell carcinoma of the head and neck; breast cancer; Rhinitis|Sinusitis; Carcinoma, Squamous Cell|Oropharyngeal Neoplasms|Papillomavirus Infections; Rectal Neoplasms; head and neck cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary; Stomach Neoplasms; lung cancer ; hypertension; esophageal cancer gastric cardiac cancer; cervical intraepithelial neoplasia grade 3; Cleft Lip|Cleft Palate|Tooth Abnormalities; Leukemia, Lymphocytic, Chronic, B-Cell; Leukoplakia|Mouth Neoplasms	Homozygous mutant mice display a variety of defects including hippocampal dysgenesis, hydrocephalus, chronic infections and inflammation, abnormal pheromone sensory pathways, eye abnormalities, impaired growth, and female infertility.	RUNX1 regulates transcription of genes involved in differentiation of HSCs	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0000187;activation of MAPK activity;IEA|GO:0001822;kidney development;IEA|GO:0006298;mismatch repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;TAS|GO:0010165;response to X-ray;IBA|GO:0010243;response to organonitrogen compound;IEA|GO:0010332;response to gamma radiation;IBA|GO:0010468;regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IBA|GO:0034644;cellular response to UV;IBA|GO:0042493;response to drug;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;IBA|GO:0043524;negative regulation of neuron apoptotic process;IBA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0051262;protein tetramerization;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IMP|GO:0071158;positive regulation of cell cycle arrest;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000785;chromatin;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IBA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003684;damaged DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0097371;MDM2/MDM4 family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TP73	https://www.uniprot.org/uniprot/O15350		https://www.ncbi.nlm.nih.gov/omim/?term=601990	http://www.informatics.jax.org/searchtool/Search.do?query=TP73&submit=Quick%0D%1680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP73	rs2181486	0.64996	0.7878	0.7240	1	0	0	intronic	intronic	intronic	TP73	TP73	ENSG00000078900	Na	Na	Na	Na	Na	Na	Het;A>G	628;28|30	Hom;A>G	1270;0|46
N	N	-	1	3644374	3644374	A	G	snp	intronic	 	 	 	 	TP73	Trp73	ENSG00000078900	tumor protein p73	chr1:3569084-3652765	This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]	colorectal cancer; esophageal cancer; stomach cancer; endometrial cancer; colorectal cancer; Colorectal Neoplasms; cervical cancer; Alzheimer's disease ; null; breast cancer ; lung cancer; Adenocarcinoma|Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; esophageal cancer; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; Adenocarcinoma|Pancreatic Neoplasms; squamous cell carcinoma of the head and neck; breast cancer; Rhinitis|Sinusitis; Carcinoma, Squamous Cell|Oropharyngeal Neoplasms|Papillomavirus Infections; Rectal Neoplasms; head and neck cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary; Stomach Neoplasms; lung cancer ; hypertension; esophageal cancer gastric cardiac cancer; cervical intraepithelial neoplasia grade 3; Cleft Lip|Cleft Palate|Tooth Abnormalities; Leukemia, Lymphocytic, Chronic, B-Cell; Leukoplakia|Mouth Neoplasms	Homozygous mutant mice display a variety of defects including hippocampal dysgenesis, hydrocephalus, chronic infections and inflammation, abnormal pheromone sensory pathways, eye abnormalities, impaired growth, and female infertility.	RUNX1 regulates transcription of genes involved in differentiation of HSCs	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0000187;activation of MAPK activity;IEA|GO:0001822;kidney development;IEA|GO:0006298;mismatch repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;TAS|GO:0010165;response to X-ray;IBA|GO:0010243;response to organonitrogen compound;IEA|GO:0010332;response to gamma radiation;IBA|GO:0010468;regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IBA|GO:0034644;cellular response to UV;IBA|GO:0042493;response to drug;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;IBA|GO:0043524;negative regulation of neuron apoptotic process;IBA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0051262;protein tetramerization;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IMP|GO:0071158;positive regulation of cell cycle arrest;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000785;chromatin;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IBA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003684;damaged DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0097371;MDM2/MDM4 family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TP73	https://www.uniprot.org/uniprot/O15350		https://www.ncbi.nlm.nih.gov/omim/?term=601990	http://www.informatics.jax.org/searchtool/Search.do?query=TP73&submit=Quick%0D%1680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP73	rs2146657	0.64996	0.7939	0.7272	1	0	0	intronic	intronic	intronic	TP73	TP73	ENSG00000078900	Na	Na	Na	Na	Na	Na	Het;A>G	598;24|28	Hom;A>G	1072;0|39
N	N	-	1	3692240	3692240	T	C	snp	intronic	 	 	 	 	SMIM1	Smim1	ENSG00000235169	small integral membrane protein 1 (Vel blood group)	chr1:3689352-3692546	This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]	BLOOD GROUP VEL SYSTEM	 			GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/SMIM1			https://www.ncbi.nlm.nih.gov/omim/?term=615242	http://www.informatics.jax.org/searchtool/Search.do?query=SMIM1&submit=Quick%0D%19317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMIM1	rs2282455	0.474241	0	0	1	0	0	intronic	intronic	intronic	SMIM1	SMIM1	ENSG00000235169	Na	Na	Na	Na	Na	Na	Het;T>C	49;11|3	Hom;T>C	189;0|7
N	N	-	1	3721963	3721963	C	G	snp	intergenic	 	 	 	 	LRRC47	Lrrc47	ENSG00000130764	leucine rich repeat containing 47	chr1:3696784-3713068			 				GO:0003723;RNA binding;IDA|GO:0004826;phenylalanine-tRNA ligase activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRRC47	https://www.uniprot.org/uniprot/Q8N1G4			http://www.informatics.jax.org/searchtool/Search.do?query=LRRC47&submit=Quick%0D%6438ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC47	rs6424053	0.691294	0	0	1	0	0	intergenic	intergenic	intergenic	LRRC47(dist=8895),CEP104(dist=6682)	LRRC47(dist=8895),CEP104(dist=6682)	ENSG00000130764(dist=8895),ENSG00000116198(dist=6682)	Na	Na	Na	Na	Na	Na	Het;C>G	99;1|6	Hom;C>G	71;0|4
N	N	-	1	3732103	3732103	T	C	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs4648409	0.656749	0.6527	0.6229	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;T>C	1436;46|69	Hom;T>C	1994;0|78
N	N	-	1	3732172	3732172	C	T	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs4233019	0.656749	0	0	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;C>T	634;15|29	Hom;C>T	992;0|35
N	N	-	1	3732782	3732782	T	C	snp	UTR3	*42A>G	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs6703035	0.691494	0	0.6782	1	0	0	intronic	intronic	UTR3	CEP104	CEP104	ENSG00000116198(ENST00000438539:c.*42A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	411;15|16	Hom;T>C	1109;0|36
N	N	-	1	3743109	3743109	A	G	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs2275834	0.697284	0	0	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;A>G	219;7|7	Hom;A>G	362;0|9
N	N	-	1	3743132	3743132	T	C	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs4648344	0.422125	0	0	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;T>C	167;5|5	Hom;T>C	242;0|6
N	N	-	1	3743319	3743319	G	A	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs6663840	0.473442	0.3805	0.3864	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;G>A	229;35|15	Hom;G>A	950;0|39
N	N	-	1	3745787	3745787	T	C	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs2275832	0.697684	0.6711	0.6272	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;T>C	722;22|31	Hom;T>C	1289;0|43
N	N	-	1	3751728	3751728	G	GT	indel	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs34966926	0.27516	0	0	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;+T	114;23|12	Hom;+T	851;2|35
N	N	-	1	3769033	3769033	A	T	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs3819006	0.319089	0	0	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;A>T	807;18|22	Hom;A>T	1135;0|27
N	N	-	1	3769034	3769034	A	T	snp	intronic	 	 	 	 	CEP104	Cep104	ENSG00000116198	centrosomal protein 104	chr1:3728645-3773778	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]	JOUBERT SYNDROME	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016594;glycine binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016596;thienylcyclohexylpiperidine binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP104	https://www.uniprot.org/uniprot/O60308	https://hpo.jax.org/app/browse/search?q=CEP104&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616690	http://www.informatics.jax.org/searchtool/Search.do?query=CEP104&submit=Quick%0D%4719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP104	rs3819007	0.319089	0	0	1	0	0	intronic	intronic	intronic	CEP104	CEP104	ENSG00000116198	Na	Na	Na	Na	Na	Na	Het;A>T	807;18|21	Hom;A>T	1135;0|25
N	N	-	1	3774130	3774130	A	G	snp	UTR5	-38A>G	 	 	 	DFFB	Dffb	ENSG00000169598	DNA fragmentation factor subunit beta	chr1:3773845-3801993	Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's	Mice homozygous for a knock-out allele are viable, fertile and developmentally normal; however, mutant thymocytes and other cell types fail to undergo apoptotic DNA fragmentation in response to dexamethasone or other apoptotic stimuli.	Activation of DNA fragmentation factor	GO:0006308;DNA catabolic process;IMP|GO:0006309;apoptotic DNA fragmentation;TAS|GO:0006915;apoptotic process;IEA|GO:0030263;apoptotic chromosome condensation;IDA|GO:0051260;protein homooligomerization;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004536;deoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IMP|GO:0097718;disordered domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DFFB			https://www.ncbi.nlm.nih.gov/omim/?term=601883	http://www.informatics.jax.org/searchtool/Search.do?query=DFFB&submit=Quick%0D%12524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DFFB	rs34891610	0.310304	0.3051	0.3336	1	0	0	UTR5	UTR5	UTR5	DFFB(NM_004402:c.-38A>G,NM_001282669:c.-38A>G)	DFFB(uc009vln.1:c.-38A>G,uc001ala.1:c.-38A>G,uc009vlo.1:c.-38A>G,uc001alc.3:c.-38A>G,uc010nzn.2:c.-38A>G,uc009vlr.3:c.-8152A>G,uc001ald.3:c.-8197A>G)	ENSG00000169598(ENST00000341385:c.-38A>G,ENST00000378212:c.-38A>G,ENST00000338895:c.-38A>G,ENST00000491998:c.-38A>G,ENST00000378209:c.-38A>G,ENST00000468793:c.-38A>G,ENST00000339350:c.-38A>G,ENST00000477548:c.-38A>G,ENST00000378206:c.-38A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	2579;83|69	Hom;A>G	4279;0|100
N	N	-	1	3774138	3774138	T	C	snp	UTR5	-30T>C	 	 	 	DFFB	Dffb	ENSG00000169598	DNA fragmentation factor subunit beta	chr1:3773845-3801993	Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's	Mice homozygous for a knock-out allele are viable, fertile and developmentally normal; however, mutant thymocytes and other cell types fail to undergo apoptotic DNA fragmentation in response to dexamethasone or other apoptotic stimuli.	Activation of DNA fragmentation factor	GO:0006308;DNA catabolic process;IMP|GO:0006309;apoptotic DNA fragmentation;TAS|GO:0006915;apoptotic process;IEA|GO:0030263;apoptotic chromosome condensation;IDA|GO:0051260;protein homooligomerization;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004536;deoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IMP|GO:0097718;disordered domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DFFB			https://www.ncbi.nlm.nih.gov/omim/?term=601883	http://www.informatics.jax.org/searchtool/Search.do?query=DFFB&submit=Quick%0D%12524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DFFB	rs12723005	0.310304	0.3118	0.3690	1	0	0	UTR5	UTR5	UTR5	DFFB(NM_004402:c.-30T>C,NM_001282669:c.-30T>C)	DFFB(uc009vln.1:c.-30T>C,uc001ala.1:c.-30T>C,uc009vlo.1:c.-30T>C,uc001alc.3:c.-30T>C,uc010nzn.2:c.-30T>C,uc009vlr.3:c.-8144T>C,uc001ald.3:c.-8189T>C)	ENSG00000169598(ENST00000341385:c.-30T>C,ENST00000378212:c.-30T>C,ENST00000338895:c.-30T>C,ENST00000491998:c.-30T>C,ENST00000378209:c.-30T>C,ENST00000468793:c.-30T>C,ENST00000339350:c.-30T>C,ENST00000477548:c.-30T>C,ENST00000378206:c.-30T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	2535;83|67	Hom;T>C	4047;0|90
N	N	-	1	3774296	3774296	A	G	snp	intronic	 	 	 	 	DFFB	Dffb	ENSG00000169598	DNA fragmentation factor subunit beta	chr1:3773845-3801993	Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's	Mice homozygous for a knock-out allele are viable, fertile and developmentally normal; however, mutant thymocytes and other cell types fail to undergo apoptotic DNA fragmentation in response to dexamethasone or other apoptotic stimuli.	Activation of DNA fragmentation factor	GO:0006308;DNA catabolic process;IMP|GO:0006309;apoptotic DNA fragmentation;TAS|GO:0006915;apoptotic process;IEA|GO:0030263;apoptotic chromosome condensation;IDA|GO:0051260;protein homooligomerization;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004536;deoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IMP|GO:0097718;disordered domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DFFB			https://www.ncbi.nlm.nih.gov/omim/?term=601883	http://www.informatics.jax.org/searchtool/Search.do?query=DFFB&submit=Quick%0D%12524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DFFB	rs12722891	0.310304	0.2825	0.3634	1	0	0	intronic	intronic	intronic	DFFB	DFFB	ENSG00000169598	Na	Na	Na	Na	Na	Na	Het;A>G	274;17|12	Hom;A>G	1033;0|35
N	N	-	1	3774312	3774312	T	C	snp	intronic	 	 	 	 	DFFB	Dffb	ENSG00000169598	DNA fragmentation factor subunit beta	chr1:3773845-3801993	Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's	Mice homozygous for a knock-out allele are viable, fertile and developmentally normal; however, mutant thymocytes and other cell types fail to undergo apoptotic DNA fragmentation in response to dexamethasone or other apoptotic stimuli.	Activation of DNA fragmentation factor	GO:0006308;DNA catabolic process;IMP|GO:0006309;apoptotic DNA fragmentation;TAS|GO:0006915;apoptotic process;IEA|GO:0030263;apoptotic chromosome condensation;IDA|GO:0051260;protein homooligomerization;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004536;deoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IMP|GO:0097718;disordered domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DFFB			https://www.ncbi.nlm.nih.gov/omim/?term=601883	http://www.informatics.jax.org/searchtool/Search.do?query=DFFB&submit=Quick%0D%12524ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DFFB	rs12726906	0.310304	0.2603	0.3601	1	0	0	intronic	intronic	intronic	DFFB	DFFB	ENSG00000169598	Na	Na	Na	Na	Na	Na	Het;T>C	201;15|9	Hom;T>C	852;0|31
N	N	-	1	39174617	39174617	G	A	snp	ncRNA_exonic	 	 	 	 	AL354702.1																		rs115579091	0.0135783	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01343(dist=494178),RRAGC(dist=129252)	LOC339442(dist=494178),RRAGC(dist=129252)	ENSG00000215895	Na	Na	Na	Na	Na	Na	Het;G>A	65;9|5	Hom;G>A	95;0|4
N	N	-	1	39325063	39325063	T	C	snp	intronic	 	 	 	 	RRAGC	Rragc	ENSG00000116954	Ras related GTP binding C	chr1:39303870-39325495	This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]		 	Regulation of PTEN gene transcription	GO:0006351;transcription, DNA-templated;NAS|GO:0006915;apoptotic process;NAS|GO:0007050;cell cycle arrest;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0008380;RNA splicing;NAS|GO:0016049;cell growth;NAS|GO:0016241;regulation of macroautophagy;TAS|GO:0032006;regulation of TOR signaling;IGI|GO:0034198;cellular response to amino acid starvation;IGI|GO:0034613;cellular protein localization;ISS|GO:0043200;response to amino acid;IMP|GO:0071230;cellular response to amino acid stimulus;ISS|GO:1903432;regulation of TORC1 signaling;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IMP|GO:0019003;GDP binding;IMP|GO:0046982;protein heterodimerization activity;IMP|GO:0051020;GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RRAGC	https://www.uniprot.org/uniprot/Q9HB90		https://www.ncbi.nlm.nih.gov/omim/?term=608267	http://www.informatics.jax.org/searchtool/Search.do?query=RRAGC&submit=Quick%0D%4813ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRAGC	rs1925678	0.418131	0	0.4998	1	0	0	intronic	intronic	intronic	RRAGC	RRAGC	ENSG00000116954	Na	Na	Na	Na	Na	Na	Het;T>C	228;5|9	Hom;T>C	830;0|30
N	N	-	1	39328203	39328203	A	C	snp	ncRNA_exonic	 	 	 	 	GJA9-MYCBP																		rs34393348	0.423123	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_intronic	GJA9-MYCBP	GJA9-MYCBP(uc021olq.1:c.*2139T>G),MYCBP(uc001ccs.3:c.*2139T>G)	ENSG00000228436	Na	Na	Na	Na	Na	Na	Het;A>C	1266;112|60	Hom;A>C	4749;0|167
N	N	-	1	39385086	39385086	A	C	snp	intronic	 	 	 	 	RHBDL2	Rhbdl2	ENSG00000158315	rhomboid like 2	chr1:39351479-39407471	The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]	prostate cancer; Menopause	 		GO:0006508;proteolysis;IEA|GO:0016485;protein processing;IBA	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RHBDL2			https://www.ncbi.nlm.nih.gov/omim/?term=608962	http://www.informatics.jax.org/searchtool/Search.do?query=RHBDL2&submit=Quick%0D%10193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBDL2	rs7522863	0.844249	0	0	1	0	0	intronic	intronic	intronic	RHBDL2	RHBDL2	ENSG00000158315	Na	Na	Na	Na	Na	Na	Het;A>C	357;13|12	Hom;A>C	677;0|22
N	N	-	1	40539076	40539076	C	T	snp	UTR3	*657G>A	 	 	 	PPT1	Ppt1	ENSG00000131238	palmitoyl-protein thioesterase 1	chr1:40538379-40563375	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]	Occipital Lobe; Neuronal Ceroid-Lipofuscinoses; schizophrenia	Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.	Fatty acyl-CoA biosynthesis	GO:0002084;protein depalmitoylation;IEA|GO:0006898;receptor-mediated endocytosis;IMP|GO:0006907;pinocytosis;IMP|GO:0007040;lysosome organization;IEA|GO:0007042;lysosomal lumen acidification;IMP|GO:0007269;neurotransmitter secretion;IEA|GO:0007399;nervous system development;IMP|GO:0007420;brain development;IMP|GO:0007601;visual perception;IEA|GO:0007625;grooming behavior;IEA|GO:0008306;associative learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0015031;protein transport;IMP|GO:0016042;lipid catabolic process;IDA|GO:0030149;sphingolipid catabolic process;TAS|GO:0030163;protein catabolic process;NAS|GO:0030308;negative regulation of cell growth;IMP|GO:0031579;membrane raft organization;IMP|GO:0032429;regulation of phospholipase A2 activity;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0044257;cellular protein catabolic process;IEA|GO:0044265;cellular macromolecule catabolic process;IEA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0048549;positive regulation of pinocytosis;IMP|GO:0048666;neuron development;TAS|GO:0050803;regulation of synapse structure or activity;NAS|GO:0050896;response to stimulus;IEA|GO:0051181;cofactor transport;IMP|GO:0051186;cofactor metabolic process;IMP	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;ISS|GO:0008021;synaptic vesicle;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008474;palmitoyl-(protein) hydrolase activity;IEA|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0098599;palmitoyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPT1	https://www.uniprot.org/uniprot/P50897	https://hpo.jax.org/app/browse/search?q=PPT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600722	http://www.informatics.jax.org/searchtool/Search.do?query=PPT1&submit=Quick%0D%6518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPT1	rs1126973	0.667332	0	0	1	0	0	UTR3	UTR3	UTR3	PPT1(NM_000310:c.*657G>A,NM_001142604:c.*657G>A)	PPT1(uc010ojf.1:c.*657G>A,uc001cfb.2:c.*657G>A,uc010ojg.1:c.*657G>A)	ENSG00000131238(ENST00000433473:c.*657G>A,ENST00000529905:c.*442G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	709;30|30	Hom;C>T	1541;1|58
N	N	-	1	40539203	40539203	A	ATGAT	indel	UTR3	*530T>ATCAT	 	 	 	PPT1	Ppt1	ENSG00000131238	palmitoyl-protein thioesterase 1	chr1:40538379-40563375	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]	Occipital Lobe; Neuronal Ceroid-Lipofuscinoses; schizophrenia	Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.	Fatty acyl-CoA biosynthesis	GO:0002084;protein depalmitoylation;IEA|GO:0006898;receptor-mediated endocytosis;IMP|GO:0006907;pinocytosis;IMP|GO:0007040;lysosome organization;IEA|GO:0007042;lysosomal lumen acidification;IMP|GO:0007269;neurotransmitter secretion;IEA|GO:0007399;nervous system development;IMP|GO:0007420;brain development;IMP|GO:0007601;visual perception;IEA|GO:0007625;grooming behavior;IEA|GO:0008306;associative learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0015031;protein transport;IMP|GO:0016042;lipid catabolic process;IDA|GO:0030149;sphingolipid catabolic process;TAS|GO:0030163;protein catabolic process;NAS|GO:0030308;negative regulation of cell growth;IMP|GO:0031579;membrane raft organization;IMP|GO:0032429;regulation of phospholipase A2 activity;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0044257;cellular protein catabolic process;IEA|GO:0044265;cellular macromolecule catabolic process;IEA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0048549;positive regulation of pinocytosis;IMP|GO:0048666;neuron development;TAS|GO:0050803;regulation of synapse structure or activity;NAS|GO:0050896;response to stimulus;IEA|GO:0051181;cofactor transport;IMP|GO:0051186;cofactor metabolic process;IMP	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;ISS|GO:0008021;synaptic vesicle;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008474;palmitoyl-(protein) hydrolase activity;IEA|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0098599;palmitoyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPT1	https://www.uniprot.org/uniprot/P50897	https://hpo.jax.org/app/browse/search?q=PPT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600722	http://www.informatics.jax.org/searchtool/Search.do?query=PPT1&submit=Quick%0D%6518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPT1	rs3841663	0.614018	0	0	1	0	0	UTR3	UTR3	UTR3	PPT1(NM_000310:c.*530T>ATCAT,NM_001142604:c.*530T>ATCAT)	PPT1(uc010ojf.1:c.*530T>ATCAT,uc001cfb.2:c.*530T>ATCAT,uc010ojg.1:c.*530T>ATCAT)	ENSG00000131238(ENST00000433473:c.*530T>ATCAT)	Na	Na	Na	Na	Na	Na	Het;+TGAT	1687;51|46	Hom;+TGAT	3123;3|74
N	N	-	1	40539228	40539228	G	C	snp	UTR3	*505C>G	 	 	 	PPT1	Ppt1	ENSG00000131238	palmitoyl-protein thioesterase 1	chr1:40538379-40563375	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]	Occipital Lobe; Neuronal Ceroid-Lipofuscinoses; schizophrenia	Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.	Fatty acyl-CoA biosynthesis	GO:0002084;protein depalmitoylation;IEA|GO:0006898;receptor-mediated endocytosis;IMP|GO:0006907;pinocytosis;IMP|GO:0007040;lysosome organization;IEA|GO:0007042;lysosomal lumen acidification;IMP|GO:0007269;neurotransmitter secretion;IEA|GO:0007399;nervous system development;IMP|GO:0007420;brain development;IMP|GO:0007601;visual perception;IEA|GO:0007625;grooming behavior;IEA|GO:0008306;associative learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0015031;protein transport;IMP|GO:0016042;lipid catabolic process;IDA|GO:0030149;sphingolipid catabolic process;TAS|GO:0030163;protein catabolic process;NAS|GO:0030308;negative regulation of cell growth;IMP|GO:0031579;membrane raft organization;IMP|GO:0032429;regulation of phospholipase A2 activity;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0044257;cellular protein catabolic process;IEA|GO:0044265;cellular macromolecule catabolic process;IEA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0048549;positive regulation of pinocytosis;IMP|GO:0048666;neuron development;TAS|GO:0050803;regulation of synapse structure or activity;NAS|GO:0050896;response to stimulus;IEA|GO:0051181;cofactor transport;IMP|GO:0051186;cofactor metabolic process;IMP	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;ISS|GO:0008021;synaptic vesicle;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008474;palmitoyl-(protein) hydrolase activity;IEA|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0098599;palmitoyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPT1	https://www.uniprot.org/uniprot/P50897	https://hpo.jax.org/app/browse/search?q=PPT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600722	http://www.informatics.jax.org/searchtool/Search.do?query=PPT1&submit=Quick%0D%6518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPT1	rs1126972	0.660743	0	0	1	0	0	UTR3	UTR3	UTR3	PPT1(NM_000310:c.*505C>G,NM_001142604:c.*505C>G)	PPT1(uc010ojf.1:c.*505C>G,uc001cfb.2:c.*505C>G,uc010ojg.1:c.*505C>G)	ENSG00000131238(ENST00000433473:c.*505C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	908;45|39	Hom;G>C	2180;2|78
N	N	-	1	40539448	40539448	A	C	snp	UTR3	*285T>G	 	 	 	PPT1	Ppt1	ENSG00000131238	palmitoyl-protein thioesterase 1	chr1:40538379-40563375	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]	Occipital Lobe; Neuronal Ceroid-Lipofuscinoses; schizophrenia	Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.	Fatty acyl-CoA biosynthesis	GO:0002084;protein depalmitoylation;IEA|GO:0006898;receptor-mediated endocytosis;IMP|GO:0006907;pinocytosis;IMP|GO:0007040;lysosome organization;IEA|GO:0007042;lysosomal lumen acidification;IMP|GO:0007269;neurotransmitter secretion;IEA|GO:0007399;nervous system development;IMP|GO:0007420;brain development;IMP|GO:0007601;visual perception;IEA|GO:0007625;grooming behavior;IEA|GO:0008306;associative learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0015031;protein transport;IMP|GO:0016042;lipid catabolic process;IDA|GO:0030149;sphingolipid catabolic process;TAS|GO:0030163;protein catabolic process;NAS|GO:0030308;negative regulation of cell growth;IMP|GO:0031579;membrane raft organization;IMP|GO:0032429;regulation of phospholipase A2 activity;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0044257;cellular protein catabolic process;IEA|GO:0044265;cellular macromolecule catabolic process;IEA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0048549;positive regulation of pinocytosis;IMP|GO:0048666;neuron development;TAS|GO:0050803;regulation of synapse structure or activity;NAS|GO:0050896;response to stimulus;IEA|GO:0051181;cofactor transport;IMP|GO:0051186;cofactor metabolic process;IMP	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;ISS|GO:0008021;synaptic vesicle;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008474;palmitoyl-(protein) hydrolase activity;IEA|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0098599;palmitoyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPT1	https://www.uniprot.org/uniprot/P50897	https://hpo.jax.org/app/browse/search?q=PPT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600722	http://www.informatics.jax.org/searchtool/Search.do?query=PPT1&submit=Quick%0D%6518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPT1	rs1126970	0.661142	0	0	1	0	0	UTR3	UTR3	UTR3	PPT1(NM_000310:c.*285T>G,NM_001142604:c.*285T>G)	PPT1(uc010ojf.1:c.*285T>G,uc001cfb.2:c.*285T>G,uc010ojg.1:c.*285T>G)	ENSG00000131238(ENST00000433473:c.*285T>G,ENST00000529905:c.*285T>G,ENST00000530704:c.*829T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	431;33|19	Hom;A>C	1455;0|49
N	N	-	1	40545964	40545964	T	G	snp	intronic	 	 	 	 	PPT1	Ppt1	ENSG00000131238	palmitoyl-protein thioesterase 1	chr1:40538379-40563375	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]	Occipital Lobe; Neuronal Ceroid-Lipofuscinoses; schizophrenia	Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.	Fatty acyl-CoA biosynthesis	GO:0002084;protein depalmitoylation;IEA|GO:0006898;receptor-mediated endocytosis;IMP|GO:0006907;pinocytosis;IMP|GO:0007040;lysosome organization;IEA|GO:0007042;lysosomal lumen acidification;IMP|GO:0007269;neurotransmitter secretion;IEA|GO:0007399;nervous system development;IMP|GO:0007420;brain development;IMP|GO:0007601;visual perception;IEA|GO:0007625;grooming behavior;IEA|GO:0008306;associative learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0015031;protein transport;IMP|GO:0016042;lipid catabolic process;IDA|GO:0030149;sphingolipid catabolic process;TAS|GO:0030163;protein catabolic process;NAS|GO:0030308;negative regulation of cell growth;IMP|GO:0031579;membrane raft organization;IMP|GO:0032429;regulation of phospholipase A2 activity;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0044257;cellular protein catabolic process;IEA|GO:0044265;cellular macromolecule catabolic process;IEA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0048549;positive regulation of pinocytosis;IMP|GO:0048666;neuron development;TAS|GO:0050803;regulation of synapse structure or activity;NAS|GO:0050896;response to stimulus;IEA|GO:0051181;cofactor transport;IMP|GO:0051186;cofactor metabolic process;IMP	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;ISS|GO:0008021;synaptic vesicle;IDA|GO:0016020;membrane;IDA|GO:0030424;axon;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008474;palmitoyl-(protein) hydrolase activity;IEA|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0098599;palmitoyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPT1	https://www.uniprot.org/uniprot/P50897	https://hpo.jax.org/app/browse/search?q=PPT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600722	http://www.informatics.jax.org/searchtool/Search.do?query=PPT1&submit=Quick%0D%6518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPT1	rs3122428	0.734225	0	0	1	0	0	intronic	intronic	intronic	PPT1	PPT1	ENSG00000131238	Na	Na	Na	Na	Na	Na	Het;T>G	446;9|14	Hom;T>G	822;0|23
N	N	-	1	40880804	40880804	C	T	snp	intronic	 	 	 	 	SMAP2	Smap2	ENSG00000084070	small ArfGAP2	chr1:40810522-40888998		asthma	Mice homozygous for a knock-out allele exhibit male infertility associated with globozoospermia, asthenozoospermia and abnormal acrosome formation.		GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SMAP2	https://www.uniprot.org/uniprot/Q8WU79		https://www.ncbi.nlm.nih.gov/omim/?term=616916	http://www.informatics.jax.org/searchtool/Search.do?query=SMAP2&submit=Quick%0D%1849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMAP2	rs2294755	0.204872	0	0	1	0	0	intronic	intronic	intronic	SMAP2	SMAP2	ENSG00000084070	Na	Na	Na	Na	Na	Na	Het;C>T	109;1|4	Hom;C>T	161;0|5
N	N	-	1	41101572	41101572	A	G	snp	intronic	 	 	 	 	RIMS3	Rims3	ENSG00000117016	regulating synaptic membrane exocytosis 3	chr1:41086351-41131329		Macular Degeneration; Autism	Mice exhibit normal hearing.		GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;IEA|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0042391;regulation of membrane potential;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA	GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0044325;ion channel binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS3	https://www.uniprot.org/uniprot/Q9UJD0		https://www.ncbi.nlm.nih.gov/omim/?term=611600	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS3&submit=Quick%0D%4828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS3	rs2253835	0.709065	0.8335	0.7393	1	0	0	intronic	intronic	intronic	RIMS3	RIMS3	ENSG00000117016	Na	Na	Na	Na	Na	Na	Het;A>G	751;37|35	Hom;A>G	2226;2|84
N	N	-	1	41107360	41107360	T	C	snp	intronic	 	 	 	 	RIMS3	Rims3	ENSG00000117016	regulating synaptic membrane exocytosis 3	chr1:41086351-41131329		Macular Degeneration; Autism	Mice exhibit normal hearing.		GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;IEA|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0042391;regulation of membrane potential;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA	GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0044325;ion channel binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS3	https://www.uniprot.org/uniprot/Q9UJD0		https://www.ncbi.nlm.nih.gov/omim/?term=611600	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS3&submit=Quick%0D%4828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS3	rs491619	0.697883	0.8243	0.7278	1	0	0	intronic	intronic	intronic	RIMS3	RIMS3	ENSG00000117016	Na	Na	Na	Na	Na	Na	Het;T>C	285;20|14	Hom;T>C	548;0|21
N	N	-	1	41107612	41107612	C	G	snp	UTR5	-15G>C	 	 	 	RIMS3	Rims3	ENSG00000117016	regulating synaptic membrane exocytosis 3	chr1:41086351-41131329		Macular Degeneration; Autism	Mice exhibit normal hearing.		GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;IEA|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0042391;regulation of membrane potential;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA	GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0044325;ion channel binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS3	https://www.uniprot.org/uniprot/Q9UJD0		https://www.ncbi.nlm.nih.gov/omim/?term=611600	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS3&submit=Quick%0D%4828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS3	rs2076332	0.215455	0.2551	0.2640	1	0	0	UTR5	UTR5	UTR5	RIMS3(NM_014747:c.-15G>C)	RIMS3(uc001cfu.1:c.-15G>C,uc001cfv.1:c.-15G>C)	ENSG00000117016(ENST00000372684:c.-15G>C,ENST00000372683:c.-15G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	732;51|34	Hom;C>G	2106;0|76
N	N	-	1	41107699	41107699	C	G	snp	intronic	 	 	 	 	RIMS3	Rims3	ENSG00000117016	regulating synaptic membrane exocytosis 3	chr1:41086351-41131329		Macular Degeneration; Autism	Mice exhibit normal hearing.		GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;IEA|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0042391;regulation of membrane potential;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA	GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0044325;ion channel binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS3	https://www.uniprot.org/uniprot/Q9UJD0		https://www.ncbi.nlm.nih.gov/omim/?term=611600	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS3&submit=Quick%0D%4828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS3	rs1534955	0.263379	0	0	1	0	0	intronic	intronic	intronic	RIMS3	RIMS3	ENSG00000117016	Na	Na	Na	Na	Na	Na	Het;C>G	140;6|6	Hom;C>G	485;0|16
N	N	-	1	41119775	41119775	C	T	snp	intronic	 	 	 	 	RIMS3	Rims3	ENSG00000117016	regulating synaptic membrane exocytosis 3	chr1:41086351-41131329		Macular Degeneration; Autism	Mice exhibit normal hearing.		GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;IEA|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0042391;regulation of membrane potential;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA	GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0044325;ion channel binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS3	https://www.uniprot.org/uniprot/Q9UJD0		https://www.ncbi.nlm.nih.gov/omim/?term=611600	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS3&submit=Quick%0D%4828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS3	rs61280821	0.257388	0	0	1	0	0	intronic	intronic	intronic	RIMS3	RIMS3	ENSG00000117016	Na	Na	Na	Na	Na	Na	Het;C>T	228;3|10	Hom;C>T	499;0|21
N	N	-	1	41154813	41154813	C	G	snp	ncRNA_exonic	 	 	 	 	NFYC-AS1																		rs552147	0.711861	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	NFYC-AS1	LOC100130557(uc010ojl.1:c.*2482G>C)	ENSG00000237899(dist=1553),ENSG00000272145(dist=1239)	Na	Na	Na	Na	Na	Na	Het;C>G	2134;90|96	Hom;C>G	3108;3|110
N	N	-	1	41155383	41155383	G	A	snp	ncRNA_exonic	 	 	 	 	NFYC-AS1																		rs2780952	0.709465	0	0	1	0	0	ncRNA_exonic	UTR3	downstream	NFYC-AS1	LOC100130557(uc010ojl.1:c.*1912C>T)	ENSG00000272145	Na	Na	Na	Na	Na	Na	Het;G>A	1095;73|53	Hom;G>A	3315;0|125
N	N	-	1	41155486	41155486	C	T	snp	ncRNA_exonic	 	 	 	 	NFYC-AS1																		rs2744801	0.283746	0	0	1	0	0	ncRNA_exonic	UTR3	downstream	NFYC-AS1	LOC100130557(uc010ojl.1:c.*1809G>A)	ENSG00000272145	Na	Na	Na	Na	Na	Na	Het;C>T	1964;94|89	Hom;C>T	4381;2|158
N	N	-	1	41286883	41286883	A	G	snp	intronic	 	 	 	 	KCNQ4	Kcnq4	ENSG00000117013	potassium voltage-gated channel subfamily Q member 4	chr1:41249684-41306124	The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	hearing loss, sensorineural nonsyndromic; Hearing Loss, Noise-Induced; hearing loss, age-related; hearing loss, noise-induced	Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells.	Voltage gated Potassium channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007605;sensory perception of sound;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNQ4	https://www.uniprot.org/uniprot/P56696	https://hpo.jax.org/app/browse/search?q=KCNQ4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603537	http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ4&submit=Quick%0D%4827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ4	rs3754173	0.446286	0	0	1	0	0	intronic	intronic	intronic	KCNQ4	KCNQ4	ENSG00000117013	Na	Na	Na	Na	Na	Na	Het;A>G	134;2|4	Hom;A>G	111;0|4
N	N	-	1	42314756	42314756	C	T	snp	intronic	 	 	 	 	HIVEP3	Hivep3	ENSG00000127124	human immunodeficiency virus type I enhancer binding protein 3	chr1:41972036-42501596	This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]	Mental Competency; Tobacco Use Disorder; Echocardiography; Parkinson's disease; Ocular Physiological Phenomena; Type 2 Diabetes| edema | rosiglitazone; Neuropsychological Tests	Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIVEP3	https://www.uniprot.org/uniprot/Q5T1R4		https://www.ncbi.nlm.nih.gov/omim/?term=606649	http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP3&submit=Quick%0D%6007ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP3	rs17365632	0.272564	0	0	1	0	0	intronic	intronic	intronic	HIVEP3	HIVEP3	ENSG00000127124	Na	Na	Na	Na	Na	Na	Het;C>T	698;38|33	Hom;C>T	1524;0|56
N	N	-	1	42506381	42506381	T	C	snp	ncRNA_exonic	 	 	 	 	HNRNPFP1																		rs10890177	0.772963	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NONE(dist=NONE),GUCA2B(dist=112711)	NONE(dist=NONE),GUCA2B(dist=112711)	ENSG00000227538	Na	Na	Na	Na	Na	Na	Het;T>C	188;11|10	Hom;T>C	399;0|16
N	N	-	1	42507013	42507013	T	G	snp	ncRNA_exonic	 	 	 	 	HNRNPFP1																		rs12758407	0.463858	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NONE(dist=NONE),GUCA2B(dist=112079)	NONE(dist=NONE),GUCA2B(dist=112079)	ENSG00000227538	Na	Na	Na	Na	Na	Na	Het;T>G	100;11|6	Hom;T>G	290;0|11
N	N	-	1	43232877	43232877	A	T	snp	upstream	 	 	 	 	C1orf50	AU022252	ENSG00000164008	chromosome 1 open reading frame 50	chr1:43232940-43263968			 				GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C1orf50				http://www.informatics.jax.org/searchtool/Search.do?query=C1orf50&submit=Quick%0D%11157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf50	rs3738505	0.285942	0	0	1	0	0	upstream	upstream	upstream	C1orf50,P3H1	C1orf50,LEPRE1	ENSG00000117385,ENSG00000164008	Na	Na	Na	Na	Na	Na	Het;A>T	548;22|29	Hom;A>T	1515;0|59
N	N	-	1	43393245	43393245	G	GGGTGAGAAAT	indel	intronic	 	 	 	 	SLC2A1	Slc2a1	ENSG00000117394	solute carrier family 2 member 1	chr1:43391052-43424530	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]	nephropathy; Type 2 diabetes; bladder cancer; Cardiomegaly; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Glomerulonephritis, IGA; Glucose Metabolism Disorders|Obesity|Spinal Dysraphism; HTLV-I Infections|Paraparesis, Tropical Spastic; Calcinosis|Diabetes Complications|Uremia|Vascular Diseases; diabetes, type 2; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Carbohydrate Metabolism, Inborn Errors|Dyskinesias|Dyskinetic syndrome|Epilepsy|Mental Retardation|Syndrome; Metabolism; lung cancer; Alzheimer's disease ; null; Hyperparathyroidism, Secondary; breast cancer; nephropathy in other diseases; diabetic nephropathy.; atherosclerosis; lung cancer ; Obesity; Hip; nephropathy, diabetic; chronic obstructive pulmonary disease; Diabetic microvascular complications; Chronic renal failure|Kidney Failure, Chronic	Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake.	Lactose synthesis	GO:0005989;lactose biosynthetic process;TAS|GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0006970;response to osmotic stress;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015758;glucose transport;TAS|GO:0019852;L-ascorbic acid metabolic process;TAS|GO:0042149;cellular response to glucose starvation;IEA|GO:0042908;xenobiotic transport;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0070837;dehydroascorbic acid transport;IEA|GO:1904659;glucose transmembrane transport;IMP	GO:0000139;Golgi membrane;TAS|GO:0001939;female pronucleus;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005901;caveola;IEA|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030496;midbody;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0031982;vesicle;IEA|GO:0042470;melanosome;IEA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005215;transporter activity;IEA|GO:0005355;glucose transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0033300;dehydroascorbic acid transporter activity;EXP|GO:0042802;identical protein binding;IPI|GO:0042910;xenobiotic transporter activity;IEA|GO:0043621;protein self-association;IDA|GO:0055056;D-glucose transmembrane transporter activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/SLC2A1	https://www.uniprot.org/uniprot/P11166	https://hpo.jax.org/app/browse/search?q=SLC2A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138140	http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A1&submit=Quick%0D%4867ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A1	rs11282849	0.617412	0.5553	0.5171	1	0	0	intronic	intronic	intronic	SLC2A1	SLC2A1	ENSG00000117394	Na	Na	Na	Na	Na	Na	Het;+GGTGAGAAAT	436;10|11	Hom;+GGTGAGAAAT	728;0|17
N	N	-	1	43524267	43524267	C	T	snp	intergenic	 	 	 	 	ENSG00000252803																		rs841407	0.672125	0	0	1	0	0	intergenic	intergenic	intergenic	SLC2A1-AS1(dist=75238),FAM183A(dist=89327)	U6(dist=34959),AK309744(dist=61552)	ENSG00000252803(dist=34959),ENSG00000186973(dist=86557)	Na	Na	Na	Na	Na	Na	Het;C>T	126;3|7	Hom;C>T	432;0|18
N	N	-	1	43663376	43663376	A	G	snp	intronic	 	 	 	 	CFAP57	Cfap57																	rs513009	0.71885	0.8061	0.8344	1	0	0	intronic	intronic	intronic	CFAP57	EBNA1BP2,WDR65	ENSG00000243710	Na	Na	Na	Na	Na	Na	Het;A>G	922;31|37	Hom;A>G	1900;0|64
N	N	-	1	43700140	43700140	A	G	snp	intronic	 	 	 	 	CFAP57	Cfap57																	rs2483688	0.796326	0	0.8312	1	0	0	intronic	intronic	intronic	CFAP57	EBNA1BP2,WDR65	ENSG00000243710	Na	Na	Na	Na	Na	Na	Het;A>G	2317;93|106	Hom;A>G	5423;0|193
N	N	-	1	44019731	44019731	C	T	snp	intronic	 	 	 	 	PTPRF	Ptprf	ENSG00000142949	protein tyrosine phosphatase, receptor type F	chr1:43990858-44089343	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]	triglycerides; insulin; obesity	Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups.  Other characteristics of null mice include defective nerve regeneration and hyperactivity.	Synaptic adhesion-like molecules	GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;TAS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0010975;regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0031102;neuron projection regeneration;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IMP|GO:0048679;regulation of axon regeneration;IEA|GO:1900121;negative regulation of receptor binding;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035373;chondroitin sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRF	https://www.uniprot.org/uniprot/P10586	https://hpo.jax.org/app/browse/search?q=PTPRF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179590	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRF&submit=Quick%0D%8346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRF	rs2842185	0.813898	0	0	1	0	0	intronic	intronic	intronic	PTPRF	PTPRF	ENSG00000142949	Na	Na	Na	Na	Na	Na	Het;C>T	159;6|7	Hom;C>T	271;0|9
N	N	-	1	44058265	44058265	C	A	snp	synonymous SNV	C1806A	A602A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PTPRF	Ptprf	ENSG00000142949	protein tyrosine phosphatase, receptor type F	chr1:43990858-44089343	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]	triglycerides; insulin; obesity	Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups.  Other characteristics of null mice include defective nerve regeneration and hyperactivity.	Synaptic adhesion-like molecules	GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;TAS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0010975;regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0031102;neuron projection regeneration;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IMP|GO:0048679;regulation of axon regeneration;IEA|GO:1900121;negative regulation of receptor binding;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035373;chondroitin sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRF	https://www.uniprot.org/uniprot/P10586	https://hpo.jax.org/app/browse/search?q=PTPRF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179590	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRF&submit=Quick%0D%8346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRF	rs3828151	0.446486	0.4217	0.4199	1	0	0	exonic	exonic	exonic	PTPRF	PTPRF	ENSG00000142949	synonymous SNV	synonymous SNV	synonymous SNV	PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A,	PTPRF:uc001cjr.3:exon11:c.C1806A:p.A602A,PTPRF:uc009vwt.3:exon3:c.C519A:p.A173A,PTPRF:uc001cjv.3:exon3:c.C519A:p.A173A,PTPRF:uc001cju.3:exon3:c.C519A:p.A173A,PTPRF:uc001cjs.3:exon11:c.C1806A:p.A602A,	ENSG00000142949:ENST00000422171:exon3:c.C183A:p.A61A,ENSG00000142949:ENST00000372414:exon9:c.C1806A:p.A602A,ENSG00000142949:ENST00000372413:exon9:c.C1806A:p.A602A,ENSG00000142949:ENST00000438120:exon11:c.C1806A:p.A602A,ENSG00000142949:ENST00000359947:exon11:c.C1806A:p.A602A,	Het;C>A	1590;67|75	Hom;C>A	4887;0|180
N	N	-	1	44064319	44064319	A	G	snp	UTR5	-248A>G	 	 	 	PTPRF	Ptprf	ENSG00000142949	protein tyrosine phosphatase, receptor type F	chr1:43990858-44089343	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]	triglycerides; insulin; obesity	Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups.  Other characteristics of null mice include defective nerve regeneration and hyperactivity.	Synaptic adhesion-like molecules	GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;TAS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0010975;regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0031102;neuron projection regeneration;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IMP|GO:0048679;regulation of axon regeneration;IEA|GO:1900121;negative regulation of receptor binding;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035373;chondroitin sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRF	https://www.uniprot.org/uniprot/P10586	https://hpo.jax.org/app/browse/search?q=PTPRF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179590	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRF&submit=Quick%0D%8346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRF	rs17849103	0.394768	0	0	1	0	0	intronic	UTR5	intronic	PTPRF	PTPRF(uc001cjw.3:c.-248A>G)	ENSG00000142949	Na	Na	Na	Na	Na	Na	Het;A>G	96;6|5	Hom;A>G	233;0|8
N	N	-	1	44067859	44067859	A	G	snp	intronic	 	 	 	 	PTPRF	Ptprf	ENSG00000142949	protein tyrosine phosphatase, receptor type F	chr1:43990858-44089343	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]	triglycerides; insulin; obesity	Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups.  Other characteristics of null mice include defective nerve regeneration and hyperactivity.	Synaptic adhesion-like molecules	GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;TAS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0010975;regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0031102;neuron projection regeneration;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IMP|GO:0048679;regulation of axon regeneration;IEA|GO:1900121;negative regulation of receptor binding;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035373;chondroitin sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRF	https://www.uniprot.org/uniprot/P10586	https://hpo.jax.org/app/browse/search?q=PTPRF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179590	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRF&submit=Quick%0D%8346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRF	rs12023161	0.394968	0	0	1	0	0	intronic	intronic	intronic	PTPRF	PTPRF	ENSG00000142949	Na	Na	Na	Na	Na	Na	Het;A>G	1096;39|48	Hom;A>G	2429;0|87
N	N	-	1	44078604	44078604	A	G	snp	intronic	 	 	 	 	PTPRF	Ptprf	ENSG00000142949	protein tyrosine phosphatase, receptor type F	chr1:43990858-44089343	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]	triglycerides; insulin; obesity	Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups.  Other characteristics of null mice include defective nerve regeneration and hyperactivity.	Synaptic adhesion-like molecules	GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;TAS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0010975;regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0031102;neuron projection regeneration;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IMP|GO:0048679;regulation of axon regeneration;IEA|GO:1900121;negative regulation of receptor binding;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035373;chondroitin sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRF	https://www.uniprot.org/uniprot/P10586	https://hpo.jax.org/app/browse/search?q=PTPRF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179590	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRF&submit=Quick%0D%8346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRF	rs10890267	0.140176	0	0	1	0	0	intronic	intronic	intronic	PTPRF	PTPRF	ENSG00000142949	Na	Na	Na	Na	Na	Na	Het;A>G	78;2|3	Hom;A>G	131;0|4
N	N	-	1	44125962	44125963	CA	C	indel	intronic	 	 	 	 	KDM4A	Kdm4a	ENSG00000066135	lysine demethylase 4A	chr1:44115829-44171186	This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]	Hypertension	 	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IDA|GO:0031667;response to nutrient levels;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032452;histone demethylase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0051864;histone demethylase activity (H3-K36 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/KDM4A	https://www.uniprot.org/uniprot/O75164		https://www.ncbi.nlm.nih.gov/omim/?term=609764	http://www.informatics.jax.org/searchtool/Search.do?query=KDM4A&submit=Quick%0D%1208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4A	rs3215843	0.547724	0	0.4373	1	0	0	intronic	intronic	intronic	KDM4A	KDM4A	ENSG00000066135	Na	Na	Na	Na	Na	Na	Het;-A	759;37|34	Hom;-A	2267;0|78
N	N	-	1	44126143	44126143	C	T	snp	intronic	 	 	 	 	KDM4A	Kdm4a	ENSG00000066135	lysine demethylase 4A	chr1:44115829-44171186	This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]	Hypertension	 	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IDA|GO:0031667;response to nutrient levels;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032452;histone demethylase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0051864;histone demethylase activity (H3-K36 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/KDM4A	https://www.uniprot.org/uniprot/O75164		https://www.ncbi.nlm.nih.gov/omim/?term=609764	http://www.informatics.jax.org/searchtool/Search.do?query=KDM4A&submit=Quick%0D%1208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4A	rs76017264	0.123003	0	0	1	0	0	intronic	intronic	intronic	KDM4A	KDM4A	ENSG00000066135	Na	Na	Na	Na	Na	Na	Het;C>T	658;25|31	Hom;C>T	1377;0|48
N	N	-	1	44184625	44184625	T	G	snp	ncRNA_intronic	 	 	 	 	LOC101929592																		rs12140156	0.307508	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101929592	ST3GAL3	ENSG00000229444	Na	Na	Na	Na	Na	Na	Het;T>G	203;17|9	Hom;T>G	1053;0|36
N	N	-	1	44258024	44258024	A	AGT	indel	intronic	 	 	 	 	ST3GAL3	St3gal3	ENSG00000126091	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	chr1:44171495-44396831	The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; Longevity	Mice homozygous for disruptions in this gene show an apparently normal phenotype.	Termination of O-glycan biosynthesis	GO:0006486;protein glycosylation;IEA|GO:0009311;oligosaccharide metabolic process;IBA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA	GO:0003836;beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;TAS|GO:0008118;N-acetyllactosaminide alpha-2,3-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST3GAL3	https://www.uniprot.org/uniprot/Q11203	https://hpo.jax.org/app/browse/search?q=ST3GAL3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606494	http://www.informatics.jax.org/searchtool/Search.do?query=ST3GAL3&submit=Quick%0D%5909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST3GAL3	rs34077566	0.379792	0	0	1	0	0	intronic	intronic	intronic	ST3GAL3	ST3GAL3	ENSG00000126091	Na	Na	Na	Na	Na	Na	Het;+GT	78;3|3	Hom;+GT	140;0|4
N	N	-	1	44280425	44280425	T	G	snp	intronic	 	 	 	 	ST3GAL3	St3gal3	ENSG00000126091	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	chr1:44171495-44396831	The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; Longevity	Mice homozygous for disruptions in this gene show an apparently normal phenotype.	Termination of O-glycan biosynthesis	GO:0006486;protein glycosylation;IEA|GO:0009311;oligosaccharide metabolic process;IBA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA	GO:0003836;beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;TAS|GO:0008118;N-acetyllactosaminide alpha-2,3-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST3GAL3	https://www.uniprot.org/uniprot/Q11203	https://hpo.jax.org/app/browse/search?q=ST3GAL3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606494	http://www.informatics.jax.org/searchtool/Search.do?query=ST3GAL3&submit=Quick%0D%5909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST3GAL3	rs3791064	0.404952	0	0	1	0	0	intronic	intronic	intronic	ST3GAL3	ST3GAL3	ENSG00000126091	Na	Na	Na	Na	Na	Na	Het;T>G	73;3|3	Hom;T>G	185;0|5
N	N	-	1	45223901	45223909	TATTAGCTG	T	indel	intronic	 	 	 	 	KIF2C	Kif2c	ENSG00000142945	kinesin family member 2C	chr1:45205490-45233439	This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	breast cancer	 	Kinesins	GO:0000278;mitotic cell cycle;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;IEA|GO:0007019;microtubule depolymerization;IDA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0008283;cell proliferation;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030951;establishment or maintenance of microtubule cytoskeleton polarity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051983;regulation of chromosome segregation;IMP|GO:0000278;mitotic cell cycle;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;IEA|GO:0007019;microtubule depolymerization;IDA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0008283;cell proliferation;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030951;establishment or maintenance of microtubule cytoskeleton polarity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051983;regulation of chromosome segregation;IMP	GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;ISS|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0035371;microtubule plus-end;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0019237;centromeric DNA binding;TAS|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIF2C	https://www.uniprot.org/uniprot/Q99661		https://www.ncbi.nlm.nih.gov/omim/?term=604538	http://www.informatics.jax.org/searchtool/Search.do?query=KIF2C&submit=Quick%0D%169ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF2C	rs111920953	0.46266	0	0	1	0	0	intronic	intronic	intronic	KIF2C	KIF2C	ENSG00000142945	Na	Na	Na	Na	Na	Na	Het;-ATTAGCTG	360;8|10	Hom;-ATTAGCTG	685;0|16
N	N	-	1	45293518	45293518	A	G	snp	synonymous SNV	T2055C	A685A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PTCH2	Ptch2	ENSG00000117425	patched 2	chr1:45285516-45308735	This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]	bladder cancer; keratocystic odontogenic tumors; Cleft Lip|Cleft Palate	Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0001709;cell fate determination;IEA|GO:0007165;signal transduction;IEA|GO:0008544;epidermis development;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0042633;hair cycle;IEA|GO:0043588;skin development;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IEA|GO:0045879;negative regulation of smoothened signaling pathway;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005119;smoothened binding;IPI|GO:0008158;hedgehog receptor activity;TAS|GO:0097108;hedgehog family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTCH2	https://www.uniprot.org/uniprot/Q9Y6C5	https://hpo.jax.org/app/browse/search?q=PTCH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603673	http://www.informatics.jax.org/searchtool/Search.do?query=PTCH2&submit=Quick%0D%4876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTCH2	rs7525308	0.445487	0.4244	0.3846	1	0	0	exonic	exonic	exonic	PTCH2	PTCH2	ENSG00000117425	synonymous SNV	synonymous SNV	synonymous SNV	PTCH2:NM_003738:exon14:c.T2055C:p.A685A,PTCH2:NM_001166292:exon14:c.T2055C:p.A685A,	PTCH2:uc021omv.1:exon14:c.T2055C:p.A685A,PTCH2:uc010olf.2:exon14:c.T2055C:p.A685A,PTCH2:uc010olg.2:exon13:c.T1149C:p.A383A,	ENSG00000117425:ENST00000447098:exon14:c.T2055C:p.A685A,ENSG00000117425:ENST00000372192:exon14:c.T2055C:p.A685A,	Het;A>G	1294;58|57	Hom;A>G	2770;2|106
N	N	-	1	45294156	45294156	T	C	snp	intronic	 	 	 	 	PTCH2	Ptch2	ENSG00000117425	patched 2	chr1:45285516-45308735	This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]	bladder cancer; keratocystic odontogenic tumors; Cleft Lip|Cleft Palate	Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0001709;cell fate determination;IEA|GO:0007165;signal transduction;IEA|GO:0008544;epidermis development;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0042633;hair cycle;IEA|GO:0043588;skin development;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IEA|GO:0045879;negative regulation of smoothened signaling pathway;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005119;smoothened binding;IPI|GO:0008158;hedgehog receptor activity;TAS|GO:0097108;hedgehog family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTCH2	https://www.uniprot.org/uniprot/Q9Y6C5	https://hpo.jax.org/app/browse/search?q=PTCH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603673	http://www.informatics.jax.org/searchtool/Search.do?query=PTCH2&submit=Quick%0D%4876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTCH2	rs2273940	0.443291	0.4215	0.3833	1	0	0	intronic	intronic	intronic	PTCH2	PTCH2	ENSG00000117425	Na	Na	Na	Na	Na	Na	Het;T>C	1662;70|78	Hom;T>C	4227;3|148
N	N	-	1	45307506	45307506	G	A	snp	intronic	 	 	 	 	PTCH2	Ptch2	ENSG00000117425	patched 2	chr1:45285516-45308735	This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]	bladder cancer; keratocystic odontogenic tumors; Cleft Lip|Cleft Palate	Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0001709;cell fate determination;IEA|GO:0007165;signal transduction;IEA|GO:0008544;epidermis development;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0042633;hair cycle;IEA|GO:0043588;skin development;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IEA|GO:0045879;negative regulation of smoothened signaling pathway;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005119;smoothened binding;IPI|GO:0008158;hedgehog receptor activity;TAS|GO:0097108;hedgehog family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTCH2	https://www.uniprot.org/uniprot/Q9Y6C5	https://hpo.jax.org/app/browse/search?q=PTCH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603673	http://www.informatics.jax.org/searchtool/Search.do?query=PTCH2&submit=Quick%0D%4876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTCH2	rs3795720	0.372005	0.3391	0.3675	1	0	0	intronic	intronic	intronic	PTCH2	PTCH2	ENSG00000117425	Na	Na	Na	Na	Na	Na	Het;G>A	423;13|18	Hom;G>A	817;0|28
N	N	-	1	45340282	45340282	C	T	snp	UTR3	*31G>A	 	 	 	EIF2B3	Eif2b3	ENSG00000070785	eukaryotic translation initiation factor 2B subunit gamma	chr1:45316450-45452282	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]	Brain Diseases|Multiple Sclerosis; Tobacco Use Disorder	 	Recycling of eIF2:GDP	GO:0006412;translation;IEA|GO:0006413;translational initiation;IDA|GO:0009058;biosynthetic process;IEA|GO:0009408;response to heat;IEA|GO:0009749;response to glucose;IEA|GO:0014003;oligodendrocyte development;IMP|GO:0021766;hippocampus development;IEA|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051716;cellular response to stimulus;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005851;eukaryotic translation initiation factor 2B complex;IDA	GO:0003743;translation initiation factor activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF2B3	https://www.uniprot.org/uniprot/Q9NR50	https://hpo.jax.org/app/browse/search?q=EIF2B3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606273	http://www.informatics.jax.org/searchtool/Search.do?query=EIF2B3&submit=Quick%0D%1375ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2B3	rs9988451	0.451677	0.4198	0.4112	1	0	0	UTR3	UTR3	UTR3	EIF2B3(NM_001166588:c.*31G>A)	EIF2B3(uc001cmw.4:c.*31G>A)	ENSG00000070785(ENST00000372183:c.*31G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	183;15|10	Hom;C>T	421;0|14
N	N	-	1	45362992	45362992	T	C	snp	intronic	 	 	 	 	EIF2B3	Eif2b3	ENSG00000070785	eukaryotic translation initiation factor 2B subunit gamma	chr1:45316450-45452282	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]	Brain Diseases|Multiple Sclerosis; Tobacco Use Disorder	 	Recycling of eIF2:GDP	GO:0006412;translation;IEA|GO:0006413;translational initiation;IDA|GO:0009058;biosynthetic process;IEA|GO:0009408;response to heat;IEA|GO:0009749;response to glucose;IEA|GO:0014003;oligodendrocyte development;IMP|GO:0021766;hippocampus development;IEA|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051716;cellular response to stimulus;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005851;eukaryotic translation initiation factor 2B complex;IDA	GO:0003743;translation initiation factor activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF2B3	https://www.uniprot.org/uniprot/Q9NR50	https://hpo.jax.org/app/browse/search?q=EIF2B3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606273	http://www.informatics.jax.org/searchtool/Search.do?query=EIF2B3&submit=Quick%0D%1375ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2B3	rs263978	0.791134	0.6611	0.6589	1	0	0	intronic	intronic	intronic	EIF2B3	EIF2B3	ENSG00000070785	Na	Na	Na	Na	Na	Na	Het;T>C	792;61|42	Hom;T>C	3525;0|122
N	N	-	1	45452227	45452227	G	C	snp	UTR5	-5387C>G	 	 	 	EIF2B3	Eif2b3	ENSG00000070785	eukaryotic translation initiation factor 2B subunit gamma	chr1:45316450-45452282	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]	Brain Diseases|Multiple Sclerosis; Tobacco Use Disorder	 	Recycling of eIF2:GDP	GO:0006412;translation;IEA|GO:0006413;translational initiation;IDA|GO:0009058;biosynthetic process;IEA|GO:0009408;response to heat;IEA|GO:0009749;response to glucose;IEA|GO:0014003;oligodendrocyte development;IMP|GO:0021766;hippocampus development;IEA|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051716;cellular response to stimulus;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005851;eukaryotic translation initiation factor 2B complex;IDA	GO:0003743;translation initiation factor activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF2B3	https://www.uniprot.org/uniprot/Q9NR50	https://hpo.jax.org/app/browse/search?q=EIF2B3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606273	http://www.informatics.jax.org/searchtool/Search.do?query=EIF2B3&submit=Quick%0D%1375ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2B3	rs489676	0.480631	0	0	1	0	0	UTR5	UTR5	UTR5	EIF2B3(NM_001261418:c.-5387C>G,NM_020365:c.-5387C>G,NM_001166588:c.-5387C>G)	EIF2B3(uc001cmt.3:c.-5387C>G,uc001cmu.3:c.-5387C>G,uc001cmw.4:c.-5387C>G)	ENSG00000070785(ENST00000360403:c.-5387C>G,ENST00000372183:c.-5387C>G,ENST00000372182:c.-5387C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	259;10|12	Hom;G>C	592;0|23
N	N	-	1	45457873	45457873	G	A	snp	upstream	 	 	 	 	MRPS17P1																		rs401665	0.479433	0	0	1	0	0	intergenic	intergenic	upstream	EIF2B3(dist=5479),HECTD3(dist=10347)	EIF2B3(dist=5479),HECTD3(dist=10347)	ENSG00000268949	Na	Na	Na	Na	Na	Na	Het;G>A	273;11|14	Hom;G>A	591;0|21
N	N	-	1	45671966	45671966	A	G	snp	synonymous SNV	T57C	A19A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZSWIM5	Zswim5	ENSG00000162415	zinc finger SWIM-type containing 5	chr1:45482071-45771881		Bone Density; Tobacco Use Disorder	 			GO:0005615;extracellular space;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSWIM5				http://www.informatics.jax.org/searchtool/Search.do?query=ZSWIM5&submit=Quick%0D%10699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSWIM5	rs4454584	0.283546	0.3185	0.3487	1	0	0	exonic	exonic	exonic	ZSWIM5	ZSWIM5	ENSG00000162415	synonymous SNV	synonymous SNV	synonymous SNV	ZSWIM5:NM_020883:exon1:c.T57C:p.A19A,	ZSWIM5:uc001cnd.2:exon1:c.T57C:p.A19A,	ENSG00000162415:ENST00000359600:exon1:c.T57C:p.A19A,	Het;A>G	616;29|27	Hom;A>G	1015;0|35
N	N	-	1	45720886	45720886	G	T	snp	intergenic	 	 	 	 	NONE																		rs3121732	0.289736	0	0	1	0	0	intergenic	intergenic	intergenic	ZSWIM5(dist=48636),LINC01144(dist=48696)	ZSWIM5(dist=48636),LOC400752(dist=48696)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>T	260;15|12	Hom;G>T	753;0|29
N	N	-	1	45965307	45965307	G	A	snp	ncRNA_exonic	 	 	 	 	CCDC163P	 																	rs12568144	0.471046	0.4143	0.5001	1	0	0	ncRNA_exonic	UTR5	UTR5	CCDC163P	CCDC163P(uc001cnw.3:c.-26C>T,uc009vxt.2:c.-26C>T)	ENSG00000236624(ENST00000415578:c.-26C>T,ENST00000515561:c.-26C>T,ENST00000490551:c.-26C>T,ENST00000514299:c.-26C>T,ENST00000432082:c.-26C>T,ENST00000488405:c.-26C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1011;66|50	Hom;G>A	4102;0|149
N	N	-	1	45965340	45965340	T	C	snp	ncRNA_exonic	 	 	 	 	CCDC163P	 																	rs7546268	0.82528	0.7076	0	1	0	0	ncRNA_exonic	UTR5	UTR5	CCDC163P	CCDC163P(uc001cnw.3:c.-59A>G,uc009vxt.2:c.-59A>G)	ENSG00000236624(ENST00000415578:c.-59A>G,ENST00000515561:c.-59A>G,ENST00000490551:c.-59A>G,ENST00000514299:c.-59A>G,ENST00000432082:c.-59A>G,ENST00000488405:c.-59A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1095;66|46	Hom;T>C	3417;0|118
N	N	-	1	45965703	45965703	G	T	snp	ncRNA_exonic	 	 	 	 	CCDC163P	 																	rs3748643	0.82528	0	0	1	0	0	ncRNA_exonic	UTR5	UTR5	CCDC163P	CCDC163P(uc001cnw.3:c.-422C>A,uc009vxt.2:c.-422C>A)	ENSG00000236624(ENST00000415578:c.-422C>A,ENST00000515561:c.-422C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1075;81|56	Hom;G>T	2928;0|104
N	N	-	1	45973928	45973928	G	A	snp	synonymous SNV	G321A	V107V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MMACHC	Mmachc	ENSG00000132763	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	chr1:45965725-45976739	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]	Homocystinuria|Vitamin B 12 Deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors|Hyperhomocysteinemia	 	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	GO:0006749;glutathione metabolic process;IDA|GO:0009235;cobalamin metabolic process;TAS|GO:0009236;cobalamin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070988;demethylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0031419;cobalamin binding;IEA|GO:0032451;demethylase activity;IDA|GO:0033787;cyanocobalamin reductase (cyanide-eliminating) activity;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043295;glutathione binding;IDA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMACHC	https://www.uniprot.org/uniprot/Q9Y4U1	https://hpo.jax.org/app/browse/search?q=MMACHC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609831	http://www.informatics.jax.org/searchtool/Search.do?query=MMACHC&submit=Quick%0D%6737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMACHC	rs2275276	0.47524	0.4162	0.4664	1	0	0	exonic	exonic	exonic	MMACHC	MMACHC	ENSG00000132763	synonymous SNV	synonymous SNV	synonymous SNV	MMACHC:NM_015506:exon3:c.G321A:p.V107V,	MMACHC:uc009vxv.3:exon3:c.G321A:p.V107V,	ENSG00000132763:ENST00000401061:exon3:c.G321A:p.V107V,	Het;G>A	1086;59|51	Hom;G>A	3269;0|128
N	N	-	1	45975856	45975856	C	G	snp	UTR3	*969C>G	 	 	 	MMACHC	Mmachc	ENSG00000132763	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	chr1:45965725-45976739	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]	Homocystinuria|Vitamin B 12 Deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors|Hyperhomocysteinemia	 	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	GO:0006749;glutathione metabolic process;IDA|GO:0009235;cobalamin metabolic process;TAS|GO:0009236;cobalamin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070988;demethylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0031419;cobalamin binding;IEA|GO:0032451;demethylase activity;IDA|GO:0033787;cyanocobalamin reductase (cyanide-eliminating) activity;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043295;glutathione binding;IDA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMACHC	https://www.uniprot.org/uniprot/Q9Y4U1	https://hpo.jax.org/app/browse/search?q=MMACHC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609831	http://www.informatics.jax.org/searchtool/Search.do?query=MMACHC&submit=Quick%0D%6737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMACHC	rs11580609	0.480431	0	0	1	0	0	UTR3	UTR3	UTR3	MMACHC(NM_015506:c.*969C>G)	MMACHC(uc009vxv.3:c.*969C>G)	ENSG00000132763(ENST00000401061:c.*969C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	437;23|24	Hom;C>G	932;0|36
N	N	-	1	45976147	45976147	G	A	snp	UTR3	*1260G>A	 	 	 	MMACHC	Mmachc	ENSG00000132763	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	chr1:45965725-45976739	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]	Homocystinuria|Vitamin B 12 Deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors|Hyperhomocysteinemia	 	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	GO:0006749;glutathione metabolic process;IDA|GO:0009235;cobalamin metabolic process;TAS|GO:0009236;cobalamin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070988;demethylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0031419;cobalamin binding;IEA|GO:0032451;demethylase activity;IDA|GO:0033787;cyanocobalamin reductase (cyanide-eliminating) activity;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043295;glutathione binding;IDA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMACHC	https://www.uniprot.org/uniprot/Q9Y4U1	https://hpo.jax.org/app/browse/search?q=MMACHC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609831	http://www.informatics.jax.org/searchtool/Search.do?query=MMACHC&submit=Quick%0D%6737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMACHC	rs882803	0.74381	0	0	1	0	0	UTR3	UTR3	UTR3	MMACHC(NM_015506:c.*1260G>A)	MMACHC(uc009vxv.3:c.*1260G>A)	ENSG00000132763(ENST00000401061:c.*1260G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	345;13|18	Hom;G>A	782;0|30
N	N	-	1	45976263	45976263	C	CT	indel	UTR3	*1376C>CT	 	 	 	MMACHC	Mmachc	ENSG00000132763	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	chr1:45965725-45976739	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]	Homocystinuria|Vitamin B 12 Deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors|Hyperhomocysteinemia	 	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	GO:0006749;glutathione metabolic process;IDA|GO:0009235;cobalamin metabolic process;TAS|GO:0009236;cobalamin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070988;demethylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0031419;cobalamin binding;IEA|GO:0032451;demethylase activity;IDA|GO:0033787;cyanocobalamin reductase (cyanide-eliminating) activity;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043295;glutathione binding;IDA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMACHC	https://www.uniprot.org/uniprot/Q9Y4U1	https://hpo.jax.org/app/browse/search?q=MMACHC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609831	http://www.informatics.jax.org/searchtool/Search.do?query=MMACHC&submit=Quick%0D%6737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMACHC	rs5773883	0.74381	0	0	1	0	0	UTR3	UTR3	UTR3	MMACHC(NM_015506:c.*1376C>CT)	MMACHC(uc009vxv.3:c.*1376C>CT)	ENSG00000132763(ENST00000401061:c.*1376C>CT)	Na	Na	Na	Na	Na	Na	Het;+T	635;18|20	Hom;+T	802;0|20
N	N	-	1	45976472	45976472	G	C	snp	UTR3	*1585G>C	 	 	 	MMACHC	Mmachc	ENSG00000132763	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	chr1:45965725-45976739	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]	Homocystinuria|Vitamin B 12 Deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors|Hyperhomocysteinemia	 	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	GO:0006749;glutathione metabolic process;IDA|GO:0009235;cobalamin metabolic process;TAS|GO:0009236;cobalamin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070988;demethylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0031419;cobalamin binding;IEA|GO:0032451;demethylase activity;IDA|GO:0033787;cyanocobalamin reductase (cyanide-eliminating) activity;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043295;glutathione binding;IDA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMACHC	https://www.uniprot.org/uniprot/Q9Y4U1	https://hpo.jax.org/app/browse/search?q=MMACHC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609831	http://www.informatics.jax.org/searchtool/Search.do?query=MMACHC&submit=Quick%0D%6737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMACHC	rs7903	0.480431	0	0	1	0	0	UTR3	UTR3	UTR3	MMACHC(NM_015506:c.*1585G>C)	MMACHC(uc009vxv.3:c.*1585G>C)	ENSG00000132763(ENST00000401061:c.*1585G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	485;23|24	Hom;G>C	1034;0|36
N	N	-	1	45976587	45976587	A	G	snp	UTR3	*1700A>G	 	 	 	MMACHC	Mmachc	ENSG00000132763	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	chr1:45965725-45976739	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]	Homocystinuria|Vitamin B 12 Deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors|Hyperhomocysteinemia	 	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	GO:0006749;glutathione metabolic process;IDA|GO:0009235;cobalamin metabolic process;TAS|GO:0009236;cobalamin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070988;demethylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0031419;cobalamin binding;IEA|GO:0032451;demethylase activity;IDA|GO:0033787;cyanocobalamin reductase (cyanide-eliminating) activity;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043295;glutathione binding;IDA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMACHC	https://www.uniprot.org/uniprot/Q9Y4U1	https://hpo.jax.org/app/browse/search?q=MMACHC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609831	http://www.informatics.jax.org/searchtool/Search.do?query=MMACHC&submit=Quick%0D%6737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMACHC	rs1044717	0.825479	0	0	1	0	0	UTR3	UTR3	UTR3	MMACHC(NM_015506:c.*1700A>G)	MMACHC(uc009vxv.3:c.*1700A>G)	ENSG00000132763(ENST00000401061:c.*1700A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	462;11|19	Hom;A>G	905;0|34
N	N	-	1	45981258	45981258	A	G	snp	intronic	 	 	 	 	PRDX1	Prdx1	ENSG00000117450	peroxiredoxin 1	chr1:45976708-45988719	This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]	Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length	Mutant mice exhibit defects in antioxidant defense that manifest as hemolytic anemia and malignancies. The phenotype is more severe in homozygous mutant mice which die prematurely.	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models	GO:0000302;response to reactive oxygen species;IEA|GO:0001501;skeletal system development;TAS|GO:0001895;retina homeostasis;IEP|GO:0006979;response to oxidative stress;IEA|GO:0008283;cell proliferation;TAS|GO:0019430;removal of superoxide radicals;IEA|GO:0030101;natural killer cell activation;IDA|GO:0032872;regulation of stress-activated MAPK cascade;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042267;natural killer cell mediated cytotoxicity;IEA|GO:0042345;regulation of NF-kappaB import into nucleus;IEA|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005615;extracellular space;IDA|GO:0005623;cell;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0031012;extracellular matrix;IDA|GO:0042470;melanosome;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0004601;peroxidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008379;thioredoxin peroxidase activity;IDA|GO:0016209;antioxidant activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051920;peroxiredoxin activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDX1	https://www.uniprot.org/uniprot/Q06830	https://hpo.jax.org/app/browse/search?q=PRDX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176763	http://www.informatics.jax.org/searchtool/Search.do?query=PRDX1&submit=Quick%0D%4878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDX1	rs7516006	0.82528	0	0	1	0	0	intronic	intronic	intronic	PRDX1	PRDX1	ENSG00000117450	Na	Na	Na	Na	Na	Na	Het;A>G	159;9|8	Hom;A>G	287;0|11
N	N	-	1	45981512	45981512	T	C	snp	intronic	 	 	 	 	PRDX1	Prdx1	ENSG00000117450	peroxiredoxin 1	chr1:45976708-45988719	This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]	Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length	Mutant mice exhibit defects in antioxidant defense that manifest as hemolytic anemia and malignancies. The phenotype is more severe in homozygous mutant mice which die prematurely.	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models	GO:0000302;response to reactive oxygen species;IEA|GO:0001501;skeletal system development;TAS|GO:0001895;retina homeostasis;IEP|GO:0006979;response to oxidative stress;IEA|GO:0008283;cell proliferation;TAS|GO:0019430;removal of superoxide radicals;IEA|GO:0030101;natural killer cell activation;IDA|GO:0032872;regulation of stress-activated MAPK cascade;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042267;natural killer cell mediated cytotoxicity;IEA|GO:0042345;regulation of NF-kappaB import into nucleus;IEA|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005615;extracellular space;IDA|GO:0005623;cell;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0031012;extracellular matrix;IDA|GO:0042470;melanosome;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0004601;peroxidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008379;thioredoxin peroxidase activity;IDA|GO:0016209;antioxidant activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051920;peroxiredoxin activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDX1	https://www.uniprot.org/uniprot/Q06830	https://hpo.jax.org/app/browse/search?q=PRDX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176763	http://www.informatics.jax.org/searchtool/Search.do?query=PRDX1&submit=Quick%0D%4878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDX1	rs2356559	0.81849	0	0.7272	1	0	0	intronic	intronic	intronic	PRDX1	PRDX1	ENSG00000117450	Na	Na	Na	Na	Na	Na	Het;T>C	333;20|14	Hom;T>C	995;0|36
N	N	-	1	46073489	46073489	G	A	snp	synonymous SNV	G912A	P304P	hydrophobic,neutral	hydrophobic,neutral	NASP	Nasp	ENSG00000132780	nuclear autoantigenic sperm protein	chr1:46049518-46084566	This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]		Mice homozygous for a null mutation display embryonic lethality before implantation.		GO:0001824;blastocyst development;ISS|GO:0006260;DNA replication;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006810;transport;IEA|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;ISS|GO:0008584;male gonad development;IEA|GO:0015031;protein transport;IEA|GO:0033574;response to testosterone;IEA|GO:0043486;histone exchange;ISS	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0051879;Hsp90 protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NASP	https://www.uniprot.org/uniprot/P49321		https://www.ncbi.nlm.nih.gov/omim/?term=603185	http://www.informatics.jax.org/searchtool/Search.do?query=NASP&submit=Quick%0D%6740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NASP	rs2230657	0.573482	0.5406	0.5181	1	0	0	exonic	exonic	exonic	NASP	NASP	ENSG00000132780	synonymous SNV	synonymous SNV	synonymous SNV	NASP:NM_001195193:exon4:c.G714A:p.P238P,NASP:NM_002482:exon6:c.G906A:p.P302P,	NASP:uc021omz.1:exon7:c.G912A:p.P304P,NASP:uc010olr.2:exon4:c.G714A:p.P238P,NASP:uc010olq.2:exon5:c.G795A:p.P265P,NASP:uc001cok.2:exon3:c.G555A:p.P185P,NASP:uc001coi.2:exon6:c.G906A:p.P302P,	ENSG00000132780:ENST00000470768:exon5:c.G795A:p.P265P,ENSG00000132780:ENST00000402363:exon7:c.G912A:p.P304P,ENSG00000132780:ENST00000350030:exon6:c.G906A:p.P302P,ENSG00000132780:ENST00000537798:exon4:c.G714A:p.P238P,	Het;G>A	820;84|42	Hom;G>A	2917;0|106
N	N	-	1	46347910	46347910	G	A	snp	intronic	 	 	 	 	MAST2	Mast2	ENSG00000086015	microtubule associated serine/threonine kinase 2	chr1:46252659-46501796		Calcium; Respiratory Function Tests	No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene.		GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST2	https://www.uniprot.org/uniprot/Q6P0Q8		https://www.ncbi.nlm.nih.gov/omim/?term=612257	http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2	rs6665193	0.874401	0	0	1	0	0	intronic	intronic	intronic	MAST2	MAST2	ENSG00000086015	Na	Na	Na	Na	Na	Na	Het;G>A	91;3|4	Hom;G>A	311;0|10
N	N	-	1	46397941	46397941	A	G	snp	intronic	 	 	 	 	MAST2	Mast2	ENSG00000086015	microtubule associated serine/threonine kinase 2	chr1:46252659-46501796		Calcium; Respiratory Function Tests	No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene.		GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST2	https://www.uniprot.org/uniprot/Q6P0Q8		https://www.ncbi.nlm.nih.gov/omim/?term=612257	http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2	rs6669522	0.484225	0	0	1	0	0	intronic	intronic	intronic	MAST2	MAST2	ENSG00000086015	Na	Na	Na	Na	Na	Na	Het;A>G	1477;57|73	Hom;A>G	3192;0|119
N	N	-	1	46466721	46466721	T	C	snp	intronic	 	 	 	 	MAST2	Mast2	ENSG00000086015	microtubule associated serine/threonine kinase 2	chr1:46252659-46501796		Calcium; Respiratory Function Tests	No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene.		GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST2	https://www.uniprot.org/uniprot/Q6P0Q8		https://www.ncbi.nlm.nih.gov/omim/?term=612257	http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2	rs11589562	0.484026	0	0	1	0	0	intronic	intronic	intronic	MAST2	MAST2	ENSG00000086015	Na	Na	Na	Na	Na	Na	Het;T>C	468;31|24	Hom;T>C	1517;0|55
N	N	-	1	46472153	46472153	G	A	snp	intronic	 	 	 	 	MAST2	Mast2	ENSG00000086015	microtubule associated serine/threonine kinase 2	chr1:46252659-46501796		Calcium; Respiratory Function Tests	No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene.		GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST2	https://www.uniprot.org/uniprot/Q6P0Q8		https://www.ncbi.nlm.nih.gov/omim/?term=612257	http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2	rs6429592	0.874401	0	0	1	0	0	intronic	intronic	intronic	MAST2	MAST2	ENSG00000086015	Na	Na	Na	Na	Na	Na	Het;G>A	1210;36|46	Hom;G>A	1675;0|58
N	N	-	1	46476587	46476587	T	G	snp	nonsynonymous SNV	T1164G	D388E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MAST2	Mast2	ENSG00000086015	microtubule associated serine/threonine kinase 2	chr1:46252659-46501796		Calcium; Respiratory Function Tests	No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene.		GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST2	https://www.uniprot.org/uniprot/Q6P0Q8		https://www.ncbi.nlm.nih.gov/omim/?term=612257	http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2	rs11211247	0.874401	0.7864	0.7924	0.08	1	13	exonic	exonic	exonic	MAST2	MAST2	ENSG00000086015	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MAST2:NM_015112:exon10:c.T1164G:p.D388E,	MAST2:uc001cow.3:exon10:c.T1164G:p.D388E,MAST2:uc001cov.3:exon10:c.T1164G:p.D388E,MAST2:uc001coz.1:exon8:c.T819G:p.D273E,MAST2:uc001coy.1:exon10:c.T288G:p.D96E,MAST2:uc009vya.3:exon9:c.T930G:p.D310E,	ENSG00000086015:ENST00000361297:exon10:c.T1164G:p.D388E,ENSG00000086015:ENST00000372008:exon8:c.T819G:p.D273E,	Het;T>G	543;37|26	Hom;T>G	2062;0|72
N	N	-	1	46487552	46487552	G	A	snp	intronic	 	 	 	 	MAST2	Mast2	ENSG00000086015	microtubule associated serine/threonine kinase 2	chr1:46252659-46501796		Calcium; Respiratory Function Tests	No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene.		GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST2	https://www.uniprot.org/uniprot/Q6P0Q8		https://www.ncbi.nlm.nih.gov/omim/?term=612257	http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2	rs2275426	0.484824	0	0	1	0	0	intronic	intronic	intronic	MAST2	MAST2	ENSG00000086015	Na	Na	Na	Na	Na	Na	Het;G>A	661;24|29	Hom;G>A	2181;0|48
N	N	-	1	46493460	46493460	T	G	snp	nonsynonymous SNV	T1977G	I659M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MAST2	Mast2	ENSG00000086015	microtubule associated serine/threonine kinase 2	chr1:46252659-46501796		Calcium; Respiratory Function Tests	No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene.		GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAST2	https://www.uniprot.org/uniprot/Q6P0Q8		https://www.ncbi.nlm.nih.gov/omim/?term=612257	http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2	rs1707336	0.485224	0.4297	0.4612	0.38	5	13	exonic	exonic	exonic	MAST2	MAST2	ENSG00000086015	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MAST2:NM_015112:exon17:c.T1977G:p.I659M,	MAST2:uc001cow.3:exon17:c.T1977G:p.I659M,MAST2:uc001cov.3:exon17:c.T1977G:p.I659M,MAST2:uc001coz.1:exon15:c.T1632G:p.I544M,MAST2:uc001coy.1:exon16:c.T999G:p.I333M,	ENSG00000086015:ENST00000361297:exon17:c.T1977G:p.I659M,ENSG00000086015:ENST00000372009:exon16:c.T1767G:p.I589M,ENSG00000086015:ENST00000372008:exon15:c.T1632G:p.I544M,	Het;T>G	757;37|33	Hom;T>G	1880;0|69
N	N	-	1	46546208	46546208	T	C	snp	intronic	 	 	 	 	PIK3R3	Pik3r3	ENSG00000117461	phosphoinositide-3-kinase regulatory subunit 3	chr1:46505812-46642160	Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]	Tobacco Use Disorder; prostate cancer	 	Regulation of signaling by CBL	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IBA|GO:2001275;positive regulation of glucose import in response to insulin stimulus;ISS	GO:0005829;cytosol;TAS|GO:0005942;phosphatidylinositol 3-kinase complex;IBA	GO:0001784;phosphotyrosine binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0035014;phosphatidylinositol 3-kinase regulator activity;IEA|GO:0046935;1-phosphatidylinositol-3-kinase regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3R3	https://www.uniprot.org/uniprot/Q92569		https://www.ncbi.nlm.nih.gov/omim/?term=606076	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3R3&submit=Quick%0D%4879ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3R3	rs1768803	0.496206	0	0	1	0	0	intronic	intronic	intronic	PIK3R3	PIK3R3	ENSG00000117461	Na	Na	Na	Na	Na	Na	Het;T>C	58;8|3	Hom;T>C	544;0|15
N	N	-	1	46598269	46598269	C	A	snp	UTR5	-645G>T	 	 	 	PIK3R3	Pik3r3	ENSG00000117461	phosphoinositide-3-kinase regulatory subunit 3	chr1:46505812-46642160	Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]	Tobacco Use Disorder; prostate cancer	 	Regulation of signaling by CBL	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IBA|GO:2001275;positive regulation of glucose import in response to insulin stimulus;ISS	GO:0005829;cytosol;TAS|GO:0005942;phosphatidylinositol 3-kinase complex;IBA	GO:0001784;phosphotyrosine binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0035014;phosphatidylinositol 3-kinase regulator activity;IEA|GO:0046935;1-phosphatidylinositol-3-kinase regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3R3	https://www.uniprot.org/uniprot/Q92569		https://www.ncbi.nlm.nih.gov/omim/?term=606076	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3R3&submit=Quick%0D%4879ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3R3	rs1707304	0.497404	0	0	1	0	0	UTR5	UTR5	UTR5	PIK3R3(NM_001303429:c.-645G>T,NM_003629:c.-645G>T)	PIK3R3(uc001cpb.4:c.-645G>T,uc009vyb.3:c.-645G>T)	ENSG00000117461(ENST00000262741:c.-645G>T,ENST00000423209:c.-645G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1064;84|58	Hom;C>A	5838;0|134
N	N	-	1	46598903	46598903	A	G	snp	intronic	 	 	 	 	PIK3R3	Pik3r3	ENSG00000117461	phosphoinositide-3-kinase regulatory subunit 3	chr1:46505812-46642160	Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]	Tobacco Use Disorder; prostate cancer	 	Regulation of signaling by CBL	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IBA|GO:2001275;positive regulation of glucose import in response to insulin stimulus;ISS	GO:0005829;cytosol;TAS|GO:0005942;phosphatidylinositol 3-kinase complex;IBA	GO:0001784;phosphotyrosine binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0035014;phosphatidylinositol 3-kinase regulator activity;IEA|GO:0046935;1-phosphatidylinositol-3-kinase regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PIK3R3	https://www.uniprot.org/uniprot/Q92569		https://www.ncbi.nlm.nih.gov/omim/?term=606076	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3R3&submit=Quick%0D%4879ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3R3	rs1355642	0.503395	0	0	1	0	0	intronic	intronic	intronic	PIK3R3	PIK3R3	ENSG00000117461	Na	Na	Na	Na	Na	Na	Het;A>G	99;11|6	Hom;A>G	193;0|7
N	N	-	1	47571902	47571902	C	T	snp	synonymous SNV	C1170T	I390I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CYP4Z1		ENSG00000186160	cytochrome P450 family 4 subfamily Z member 1	chr1:47533160-47583991	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]				GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4Z1				http://www.informatics.jax.org/searchtool/Search.do?query=CYP4Z1&submit=Quick%0D%15583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4Z1	rs4926802	0.589657	0.3834	0.4266	1	0	0	exonic	exonic	exonic	CYP4Z1	CYP4Z1	ENSG00000186160	synonymous SNV	synonymous SNV	synonymous SNV	CYP4Z1:NM_178134:exon9:c.C1170T:p.I390I,	CYP4Z1:uc001cqu.1:exon9:c.C1170T:p.I390I,	ENSG00000186160:ENST00000334194:exon9:c.C1170T:p.I390I,	Het;C>T	2421;72|65	Hom;C>T	6370;0|147
N	N	-	1	47571905	47571905	C	T	snp	synonymous SNV	C1173T	T391T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CYP4Z1		ENSG00000186160	cytochrome P450 family 4 subfamily Z member 1	chr1:47533160-47583991	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]				GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4Z1				http://www.informatics.jax.org/searchtool/Search.do?query=CYP4Z1&submit=Quick%0D%15583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4Z1	rs28463559	0.579473	0	0.4241	1	0	0	exonic	exonic	exonic	CYP4Z1	CYP4Z1	ENSG00000186160	synonymous SNV	synonymous SNV	synonymous SNV	CYP4Z1:NM_178134:exon9:c.C1173T:p.T391T,	CYP4Z1:uc001cqu.1:exon9:c.C1173T:p.T391T,	ENSG00000186160:ENST00000334194:exon9:c.C1173T:p.T391T,	Het;C>T	2369;72|63	Hom;C>T	6321;0|141
N	N	-	1	47571996	47571996	T	C	snp	ncRNA_intronic	 	 	 	 	CYP4A22-AS1																		rs4926804	0.595248	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CYP4Z1	CYP4Z1	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;T>C	366;11|12	Hom;T>C	1167;0|37
N	N	-	1	47572046	47572046	C	T	snp	ncRNA_intronic	 	 	 	 	CYP4A22-AS1																		rs4926805	0.592851	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CYP4Z1	CYP4Z1	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;C>T	61;4|3	Hom;C>T	160;0|6
N	N	-	1	47581122	47581122	A	T	snp	ncRNA_intronic	 	 	 	 	CYP4A22-AS1																		rs7547893	0.58107	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CYP4Z1	CYP4Z1	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;A>T	419;7|16	Hom;A>T	887;0|28
N	N	-	1	47582292	47582292	T	G	snp	ncRNA_intronic	 	 	 	 	CYP4A22-AS1																		rs10890465	0.59345	0.3898	0.4640	1	0	0	intronic	intronic	ncRNA_intronic	CYP4Z1	CYP4Z1	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;T>G	194;31|7	Hom;T>G	1184;0|32
N	N	-	1	47583415	47583415	G	T	snp	ncRNA_intronic	 	 	 	 	CYP4A22-AS1																		rs6664496	0.59345	0.3892	0.4640	1	0	0	intronic	intronic	ncRNA_intronic	CYP4Z1	CYP4Z1	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;G>T	445;21|22	Hom;G>T	999;0|36
N	N	-	1	47603033	47603034	GT	G	indel	upstream	 	 	 	 	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs34164833	0.580272	0	0	1	0	0	upstream	upstream	ncRNA_intronic	CYP4A22	CYP4A22	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;-T	98;10|4	Hom;-T	443;0|12
N	N	-	1	47607851	47607851	A	T	snp	nonsynonymous SNV	A454T	N152Y	polar,hydrophilic,neutral	aromatic,polar,hydrophobic	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs2056899	0.730831	0.5429	0.5301	0.08	1	13	exonic	exonic	exonic	CYP4A22	CYP4A22	ENSG00000162365	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CYP4A22:NM_001010969:exon4:c.A454T:p.N152Y,	CYP4A22:uc009vyp.3:exon4:c.A454T:p.N152Y,CYP4A22:uc001cqv.1:exon4:c.A454T:p.N152Y,CYP4A22:uc009vyo.3:exon4:c.A454T:p.N152Y,	ENSG00000162365:ENST00000294337:exon4:c.A454T:p.N152Y,ENSG00000162365:ENST00000371890:exon4:c.A454T:p.N152Y,ENSG00000162365:ENST00000371891:exon4:c.A454T:p.N152Y,	Het;A>T	1759;60|84	Hom;A>T	2900;0|107
N	N	-	1	47609489	47609489	T	C	snp	nonsynonymous SNV	T691C	C231R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs10789501	0.580671	0.3917	0.4542	0.08	1	13	exonic	exonic	exonic	CYP4A22	CYP4A22	ENSG00000162365	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CYP4A22:NM_001010969:exon6:c.T691C:p.C231R,	CYP4A22:uc001cqv.1:exon6:c.T691C:p.C231R,CYP4A22:uc009vyo.3:exon6:c.T691C:p.C231R,	ENSG00000162365:ENST00000294337:exon6:c.T691C:p.C231R,ENSG00000162365:ENST00000371891:exon6:c.T691C:p.C231R,	Het;T>C	1770;109|85	Hom;T>C	5053;0|182
N	N	-	1	47609668	47609668	T	C	snp	ncRNA_intronic	 	 	 	 	CYP4A22-AS1																		rs911909	0.579673	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CYP4A22	CYP4A22	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;T>C	547;11|23	Hom;T>C	937;0|30
N	N	-	1	47614185	47614185	G	C	snp	ncRNA_intronic	 	 	 	 	CYP4A22-AS1																		rs760440	0.582867	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CYP4A22	CYP4A22	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;G>C	340;12|11	Hom;G>C	953;0|29
N	N	-	1	47614485	47614485	A	G	snp	UTR3	*16A>G	 	 	 	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs72684327	0.211462	0.1691	0.1701	1	0	0	UTR3	UTR3	ncRNA_intronic	CYP4A22(NM_001010969:c.*16A>G)	CYP4A22(uc001cqv.1:c.*16A>G)	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;A>G	1870;61|77	Hom;A>G	4022;0|133
N	N	-	1	47614621	47614621	A	G	snp	downstream	 	 	 	 	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs11211469	0.585463	0	0	1	0	0	downstream	downstream	ncRNA_intronic	CYP4A22	CYP4A22	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;A>G	534;17|17	Hom;A>G	1685;0|50
N	N	-	1	47614664	47614664	A	C	snp	downstream	 	 	 	 	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs10789502	0.73762	0	0	1	0	0	downstream	downstream	ncRNA_intronic	CYP4A22	CYP4A22	ENSG00000225506	Na	Na	Na	Na	Na	Na	Het;A>C	86;17|4	Hom;A>C	776;0|18
N	N	-	1	47726087	47726087	T	C	snp	nonsynonymous SNV	A2951G	H984R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	STIL	Stil	ENSG00000123473	STIL, centriolar assembly protein	chr1:47715811-47779819	This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for disruptions in this gene die as embryos with various neural tube defects.		GO:0000578;embryonic axis specification;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001843;neural tube closure;ISS|GO:0001947;heart looping;ISS|GO:0007052;mitotic spindle organization;IMP|GO:0007224;smoothened signaling pathway;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0008283;cell proliferation;TAS|GO:0021915;neural tube development;ISS|GO:0030900;forebrain development;ISS|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0035264;multicellular organism growth;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0046599;regulation of centriole replication;IMP|GO:0051298;centrosome duplication;IDA|GO:0071539;protein localization to centrosome;IMP	GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STIL	https://www.uniprot.org/uniprot/Q15468	https://hpo.jax.org/app/browse/search?q=STIL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=181590	http://www.informatics.jax.org/searchtool/Search.do?query=STIL&submit=Quick%0D%5532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STIL	rs13376679	0.178315	0.2826	0.2421	0.08	1	13	exonic	exonic	exonic	STIL	STIL	ENSG00000123473	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	STIL:NM_001282936:exon17:c.A2951G:p.H984R,STIL:NM_001282939:exon18:c.A2759G:p.H920R,STIL:NM_001282938:exon18:c.A2813G:p.H938R,STIL:NM_001282937:exon17:c.A2900G:p.H967R,STIL:NM_001048166:exon16:c.A2954G:p.H985R,STIL:NM_003035:exon16:c.A2951G:p.H984R,	STIL:uc001crd.1:exon16:c.A2954G:p.H985R,STIL:uc001crg.1:exon18:c.A2759G:p.H920R,STIL:uc010omn.1:exon17:c.A2813G:p.H938R,STIL:uc010omo.1:exon16:c.A2900G:p.H967R,STIL:uc001cre.1:exon17:c.A2951G:p.H984R,STIL:uc001crc.1:exon16:c.A2951G:p.H984R,STIL:uc001crf.1:exon6:c.A1790G:p.H597R,	ENSG00000123473:ENST00000337817:exon16:c.A2951G:p.H984R,ENSG00000123473:ENST00000360380:exon17:c.A2951G:p.H984R,ENSG00000123473:ENST00000396221:exon16:c.A2900G:p.H967R,ENSG00000123473:ENST00000371877:exon16:c.A2954G:p.H985R,ENSG00000123473:ENST00000243182:exon16:c.A2951G:p.H984R,	Het;T>C	1655;69|77	Hom;T>C	4258;2|164
N	N	-	1	47746993	47746993	G	A	snp	intronic	 	 	 	 	STIL	Stil	ENSG00000123473	STIL, centriolar assembly protein	chr1:47715811-47779819	This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for disruptions in this gene die as embryos with various neural tube defects.		GO:0000578;embryonic axis specification;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001843;neural tube closure;ISS|GO:0001947;heart looping;ISS|GO:0007052;mitotic spindle organization;IMP|GO:0007224;smoothened signaling pathway;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0008283;cell proliferation;TAS|GO:0021915;neural tube development;ISS|GO:0030900;forebrain development;ISS|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0035264;multicellular organism growth;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0046599;regulation of centriole replication;IMP|GO:0051298;centrosome duplication;IDA|GO:0071539;protein localization to centrosome;IMP	GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STIL	https://www.uniprot.org/uniprot/Q15468	https://hpo.jax.org/app/browse/search?q=STIL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=181590	http://www.informatics.jax.org/searchtool/Search.do?query=STIL&submit=Quick%0D%5532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STIL	rs11211505	0.184105	0	0	1	0	0	intronic	intronic	intronic	STIL	STIL	ENSG00000123473	Na	Na	Na	Na	Na	Na	Het;G>A	190;3|7	Hom;G>A	256;0|8
N	N	-	1	47770806	47770806	T	C	snp	UTR5	-82A>G	 	 	 	STIL	Stil	ENSG00000123473	STIL, centriolar assembly protein	chr1:47715811-47779819	This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for disruptions in this gene die as embryos with various neural tube defects.		GO:0000578;embryonic axis specification;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001843;neural tube closure;ISS|GO:0001947;heart looping;ISS|GO:0007052;mitotic spindle organization;IMP|GO:0007224;smoothened signaling pathway;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0008283;cell proliferation;TAS|GO:0021915;neural tube development;ISS|GO:0030900;forebrain development;ISS|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0035264;multicellular organism growth;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0046599;regulation of centriole replication;IMP|GO:0051298;centrosome duplication;IDA|GO:0071539;protein localization to centrosome;IMP	GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STIL	https://www.uniprot.org/uniprot/Q15468	https://hpo.jax.org/app/browse/search?q=STIL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=181590	http://www.informatics.jax.org/searchtool/Search.do?query=STIL&submit=Quick%0D%5532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STIL	rs12129594	0.179712	0	0	1	0	0	intronic	intronic	UTR5	STIL	STIL	ENSG00000123473(ENST00000413565:c.-82A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	286;11|13	Hom;T>C	380;0|13
N	N	-	1	47851881	47851881	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01389																		rs2406105	0.710863	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01389	CMPK1(dist=7370),AX748181(dist=7569)	ENSG00000225762	Na	Na	Na	Na	Na	Na	Het;C>T	354;13|17	Hom;C>T	852;0|31
N	N	-	1	47875484	47875484	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01389																		rs11577621	0.303315	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LINC01389	AX748181(dist=14269),FOXE3(dist=6260)	ENSG00000225762(dist=1335),ENSG00000186790(dist=6260)	Na	Na	Na	Na	Na	Na	Het;T>C	602;33|32	Hom;T>C	1105;0|42
N	N	-	1	47875536	47875536	G	C	snp	ncRNA_exonic	 	 	 	 	LINC01389																		rs12065137	0.157947	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LINC01389	AX748181(dist=14321),FOXE3(dist=6208)	ENSG00000225762(dist=1387),ENSG00000186790(dist=6208)	Na	Na	Na	Na	Na	Na	Het;G>C	606;33|30	Hom;G>C	743;0|29
N	N	-	1	47899563	47899563	A	C	snp	ncRNA_exonic	 	 	 	 	FOXD2-AS1																		rs10890480	0.156749	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FOXD2-AS1	FOXD2-AS1	ENSG00000237424	Na	Na	Na	Na	Na	Na	Het;A>C	1236;52|55	Hom;A>C	2773;2|98
N	N	-	1	47902886	47902886	C	T	snp	UTR5	-922C>T	 	 	 	FOXD2	Foxd2	ENSG00000186564	forkhead box D2	chr1:47901689-47906363	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]	Antidepressive Agents	Homozygotes for a targeted null mutation exhibit renal abnormalities including kidney hypoplasia and hydroureter. Penetrance is reduced, and dependent upon the genetic background.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FOXD2			https://www.ncbi.nlm.nih.gov/omim/?term=602211	http://www.informatics.jax.org/searchtool/Search.do?query=FOXD2&submit=Quick%0D%15670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXD2	rs12141529	0.156749	0	0	1	0	0	ncRNA_intronic	UTR5	UTR5	LINC01389	FOXD2(uc001crm.3:c.-922C>T)	ENSG00000186564(ENST00000334793:c.-922C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	87;9|5	Hom;C>T	739;0|27
N	N	-	1	48367471	48367471	C	T	snp	intronic	 	 	 	 	TRABD2B	Trabd2b	ENSG00000269113	TraB domain containing 2B	chr1:48226200-48462567		Brain Mapping	 		GO:0006508;proteolysis;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:1904808;positive regulation of protein oxidation;IDA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031301;integral component of organelle membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0004222;metalloendopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017147;Wnt-protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRABD2B			https://www.ncbi.nlm.nih.gov/omim/?term=614913	http://www.informatics.jax.org/searchtool/Search.do?query=TRABD2B&submit=Quick%0D%20746ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRABD2B	rs12739172	0.416733	0	0	1	0	0	intronic	intronic	intronic	TRABD2B	TRABD2B	ENSG00000269113	Na	Na	Na	Na	Na	Na	Het;C>T	366;17|17	Hom;C>T	779;0|29
N	N	-	1	52272722	52272725	TTAG	T	indel	intronic	 	 	 	 	NRD1	 																	rs34531885	0.795927	0	0	1	0	0	intronic	intronic	intronic	NRD1	NRD1	ENSG00000078618	Na	Na	Na	Na	Na	Na	Het;-TAG	222;12|8	Hom;-TAG	593;0|14
N	N	-	1	52293570	52293570	G	A	snp	intronic	 	 	 	 	NRD1	 																	rs2077725	0.624601	0.5496	0.6242	1	0	0	intronic	intronic	intronic	NRD1	NRD1	ENSG00000078618	Na	Na	Na	Na	Na	Na	Het;G>A	493;30|26	Hom;G>A	1064;0|40
N	N	-	1	52402856	52402856	T	G	snp	intronic	 	 	 	 	RAB3B	Rab3b	ENSG00000169213	RAB3B, member RAS oncogene family	chr1:52373628-52456436			Mice homozygous for a knock-out allele are viable with no apparent decrease in weight or fertility.	RAB geranylgeranylation	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0018125;peptidyl-cysteine methylation;IEA|GO:0019882;antigen processing and presentation;IMP|GO:0051586;positive regulation of dopamine uptake involved in synaptic transmission;IDA|GO:0097494;regulation of vesicle size;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0030141;secretory granule;IEA|GO:0031982;vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0030742;GTP-dependent protein binding;IEA|GO:0031489;myosin V binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB3B			https://www.ncbi.nlm.nih.gov/omim/?term=179510	http://www.informatics.jax.org/searchtool/Search.do?query=RAB3B&submit=Quick%0D%12439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3B	rs10888741	0.881789	0	0	1	0	0	intronic	intronic	intronic	RAB3B	RAB3B	ENSG00000169213	Na	Na	Na	Na	Na	Na	Het;T>G	99;7|4	Hom;T>G	492;0|13
N	N	-	1	52402956	52402956	G	A	snp	intronic	 	 	 	 	RAB3B	Rab3b	ENSG00000169213	RAB3B, member RAS oncogene family	chr1:52373628-52456436			Mice homozygous for a knock-out allele are viable with no apparent decrease in weight or fertility.	RAB geranylgeranylation	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0018125;peptidyl-cysteine methylation;IEA|GO:0019882;antigen processing and presentation;IMP|GO:0051586;positive regulation of dopamine uptake involved in synaptic transmission;IDA|GO:0097494;regulation of vesicle size;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0030141;secretory granule;IEA|GO:0031982;vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0030742;GTP-dependent protein binding;IEA|GO:0031489;myosin V binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB3B			https://www.ncbi.nlm.nih.gov/omim/?term=179510	http://www.informatics.jax.org/searchtool/Search.do?query=RAB3B&submit=Quick%0D%12439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3B	rs10888742	0.881589	0.8819	0.9327	1	0	0	intronic	intronic	intronic	RAB3B	RAB3B	ENSG00000169213	Na	Na	Na	Na	Na	Na	Het;G>A	1018;46|46	Hom;G>A	2475;0|85
N	N	-	1	53535478	53535478	G	A	snp	nonsynonymous SNV	G38A	R13H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	PODN	Podn	ENSG00000174348	podocan	chr1:53527854-53551174	The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PODN			https://www.ncbi.nlm.nih.gov/omim/?term=608661	http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN	rs1288386	0.357428	0.3408	0.5010	0.09	1	11	exonic	exonic	exonic	PODN	PODN	ENSG00000174348	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	PODN:NM_001199080:exon4:c.G38A:p.R13H,PODN:NM_001199082:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_153703:exon2:c.G95A:p.R32H,	PODN:uc001cuw.3:exon4:c.G38A:p.R13H,PODN:uc010ons.2:exon2:c.G95A:p.R32H,PODN:uc010onr.2:exon3:c.G38A:p.R13H,PODN:uc001cuv.3:exon2:c.G95A:p.R32H,	ENSG00000174348:ENST00000371500:exon4:c.G38A:p.R13H,ENSG00000174348:ENST00000395871:exon2:c.G95A:p.R32H,ENSG00000174348:ENST00000312553:exon2:c.G95A:p.R32H,	Het;G>A	463;17|23	Hom;G>A	1182;0|45
N	N	-	1	53537266	53537266	G	A	snp	synonymous SNV	G459A	T153T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PODN	Podn	ENSG00000174348	podocan	chr1:53527854-53551174	The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PODN			https://www.ncbi.nlm.nih.gov/omim/?term=608661	http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN	rs1769316	0.55611	0.4872	0.5116	1	0	0	exonic	exonic	exonic	PODN	PODN	ENSG00000174348	synonymous SNV	synonymous SNV	synonymous SNV	PODN:NM_001199080:exon5:c.G459A:p.T153T,PODN:NM_001199081:exon4:c.G459A:p.T153T,PODN:NM_153703:exon3:c.G516A:p.T172T,	PODN:uc001cuw.3:exon5:c.G459A:p.T153T,PODN:uc010onr.2:exon4:c.G459A:p.T153T,PODN:uc001cuv.3:exon3:c.G516A:p.T172T,	ENSG00000174348:ENST00000371500:exon5:c.G459A:p.T153T,ENSG00000174348:ENST00000312553:exon3:c.G516A:p.T172T,	Het;G>A	1104;90|59	Hom;G>A	4557;2|176
N	N	-	1	53544439	53544439	G	A	snp	synonymous SNV	G1344A	P448P	hydrophobic,neutral	hydrophobic,neutral	PODN	Podn	ENSG00000174348	podocan	chr1:53527854-53551174	The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PODN			https://www.ncbi.nlm.nih.gov/omim/?term=608661	http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN	rs1288388	0.410543	0.5710	0.5900	1	0	0	exonic	exonic	exonic	PODN	PODN	ENSG00000174348	synonymous SNV	synonymous SNV	synonymous SNV	PODN:NM_001199080:exon10:c.G1344A:p.P448P,PODN:NM_001199082:exon4:c.G975A:p.P325P,PODN:NM_001199081:exon9:c.G1344A:p.P448P,PODN:NM_153703:exon8:c.G1401A:p.P467P,	PODN:uc001cuw.3:exon10:c.G1344A:p.P448P,PODN:uc010ons.2:exon4:c.G975A:p.P325P,PODN:uc010onr.2:exon9:c.G1344A:p.P448P,PODN:uc001cuv.3:exon8:c.G1401A:p.P467P,	ENSG00000174348:ENST00000371500:exon10:c.G1344A:p.P448P,ENSG00000174348:ENST00000395871:exon4:c.G975A:p.P325P,ENSG00000174348:ENST00000312553:exon8:c.G1401A:p.P467P,	Het;G>A	1743;94|85	Hom;G>A	5394;0|202
N	N	-	1	53544597	53544597	T	C	snp	nonsynonymous SNV	T1502C	V501A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PODN	Podn	ENSG00000174348	podocan	chr1:53527854-53551174	The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PODN			https://www.ncbi.nlm.nih.gov/omim/?term=608661	http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN	rs1288389	0.560903	0.7460	0.7717	0.23	3	13	exonic	exonic	exonic	PODN	PODN	ENSG00000174348	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	PODN:NM_001199080:exon10:c.T1502C:p.V501A,PODN:NM_001199082:exon4:c.T1133C:p.V378A,PODN:NM_001199081:exon9:c.T1502C:p.V501A,PODN:NM_153703:exon8:c.T1559C:p.V520A,	PODN:uc001cuw.3:exon10:c.T1502C:p.V501A,PODN:uc010ons.2:exon4:c.T1133C:p.V378A,PODN:uc010onr.2:exon9:c.T1502C:p.V501A,PODN:uc001cuv.3:exon8:c.T1559C:p.V520A,	ENSG00000174348:ENST00000371500:exon10:c.T1502C:p.V501A,ENSG00000174348:ENST00000395871:exon4:c.T1133C:p.V378A,ENSG00000174348:ENST00000312553:exon8:c.T1559C:p.V520A,	Het;T>C	587;26|26	Hom;T>C	1913;0|67
N	N	-	1	53553485	53553485	A	G	snp	UTR3	*196T>C	 	 	 	SLC1A7	Slc1a7	ENSG00000162383	solute carrier family 1 member 7	chr1:53552855-53608289		Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic; Hyperparathyroidism, Secondary; several psychiatric disorders; Amyotrophic Lateral Sclerosis	 	Transport of inorganic cations/anions and amino acids/oligopeptides	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006835;dicarboxylic acid transport;TAS|GO:0014047;glutamate secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0005314;high-affinity glutamate transmembrane transporter activity;TAS|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC1A7			https://www.ncbi.nlm.nih.gov/omim/?term=604471	http://www.informatics.jax.org/searchtool/Search.do?query=SLC1A7&submit=Quick%0D%10686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC1A7	rs1288399	0.667931	0	0	1	0	0	UTR3	UTR3	UTR3	SLC1A7(NM_006671:c.*196T>C,NM_001287595:c.*196T>C,NM_001287597:c.*263T>C)	SLC1A7(uc021onm.1:c.*263T>C,uc001cux.3:c.*196T>C,uc001cuy.3:c.*196T>C,uc021onn.1:c.*196T>C)	ENSG00000162383(ENST00000371494:c.*196T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1672;92|77	Hom;A>G	4551;0|158
N	N	-	1	53553754	53553754	T	C	snp	nonsynonymous SNV	A1787G	Q596R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	SLC1A7	Slc1a7	ENSG00000162383	solute carrier family 1 member 7	chr1:53552855-53608289		Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic; Hyperparathyroidism, Secondary; several psychiatric disorders; Amyotrophic Lateral Sclerosis	 	Transport of inorganic cations/anions and amino acids/oligopeptides	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006835;dicarboxylic acid transport;TAS|GO:0014047;glutamate secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0005314;high-affinity glutamate transmembrane transporter activity;TAS|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC1A7			https://www.ncbi.nlm.nih.gov/omim/?term=604471	http://www.informatics.jax.org/searchtool/Search.do?query=SLC1A7&submit=Quick%0D%10686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC1A7	rs1288401	0.410144	0.5706	0.5929	0.31	4	13	exonic	exonic	exonic	SLC1A7	SLC1A7	ENSG00000162383	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	SLC1A7:NM_001287595:exon11:c.A1787G:p.Q596R,SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R,	SLC1A7:uc021onn.1:exon11:c.A1787G:p.Q596R,SLC1A7:uc001cux.3:exon3:c.A569G:p.Q190R,SLC1A7:uc001cuy.3:exon11:c.A1610G:p.Q537R,	ENSG00000162383:ENST00000371494:exon11:c.A1610G:p.Q537R,	Het;T>C	1569;68|69	Hom;T>C	2915;1|101
N	N	-	1	53555783	53555783	A	C	snp	synonymous SNV	T9G	L3L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC1A7	Slc1a7	ENSG00000162383	solute carrier family 1 member 7	chr1:53552855-53608289		Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic; Hyperparathyroidism, Secondary; several psychiatric disorders; Amyotrophic Lateral Sclerosis	 	Transport of inorganic cations/anions and amino acids/oligopeptides	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006835;dicarboxylic acid transport;TAS|GO:0014047;glutamate secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0005314;high-affinity glutamate transmembrane transporter activity;TAS|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC1A7			https://www.ncbi.nlm.nih.gov/omim/?term=604471	http://www.informatics.jax.org/searchtool/Search.do?query=SLC1A7&submit=Quick%0D%10686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC1A7	rs1288403	0.546725	0	0.7843	1	0	0	intronic	exonic	intronic	SLC1A7	SLC1A7	ENSG00000162383	Na	synonymous SNV	Na	Na	SLC1A7:uc001cux.3:exon1:c.T9G:p.L3L,	Na	Het;A>C	171;4|8	Hom;A>C	376;0|13
N	N	-	1	54606804	54606804	C	T	snp	nonsynonymous SNV	G730A	G244R	aliphatic,neutral	polar,hydrophilic,charged(+)	CDCP2	Cdcp2	ENSG00000157211	CUB domain containing protein 2	chr1:54598747-54619443		Parkinson Disease; Parkinson's disease	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CDCP2			https://www.ncbi.nlm.nih.gov/omim/?term=612320	http://www.informatics.jax.org/searchtool/Search.do?query=CDCP2&submit=Quick%0D%10068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDCP2	rs3766465	0.824081	0.8248	0.8286	0.46	6	13	exonic	exonic	exonic	CDCP2	CDCP2	ENSG00000157211	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CDCP2:NM_201546:exon3:c.G730A:p.G244R,	CDCP2:uc001cwv.2:exon3:c.G730A:p.G244R,	ENSG00000157211:ENST00000371330:exon3:c.G730A:p.G244R,	Het;C>T	1491;71|64	Hom;C>T	3713;0|133
N	N	-	1	54607157	54607157	G	A	snp	intronic	 	 	 	 	CDCP2	Cdcp2	ENSG00000157211	CUB domain containing protein 2	chr1:54598747-54619443		Parkinson Disease; Parkinson's disease	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CDCP2			https://www.ncbi.nlm.nih.gov/omim/?term=612320	http://www.informatics.jax.org/searchtool/Search.do?query=CDCP2&submit=Quick%0D%10068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDCP2	rs671539	0.876398	0.8478	0.8482	1	0	0	intronic	intronic	intronic	CDCP2	CDCP2	ENSG00000157211	Na	Na	Na	Na	Na	Na	Het;G>A	572;27|28	Hom;G>A	1839;0|69
N	N	-	1	55119289	55119289	G	C	snp	synonymous SNV	G690C	L230L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MROH7	Mroh7	ENSG00000184313	maestro heat like repeat family member 7	chr1:55107463-55175939		Tobacco Use Disorder; Cholesterol, LDL	 			GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH7				http://www.informatics.jax.org/searchtool/Search.do?query=MROH7&submit=Quick%0D%15180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH7	rs9332417	0.420527	0.5191	0.5070	1	0	0	exonic	exonic	exonic	MROH7	MROH7	ENSG00000184313,ENSG00000271723	synonymous SNV	synonymous SNV	synonymous SNV	MROH7:NM_001039464:exon3:c.G690C:p.L230L,	MROH7:uc010oog.1:exon1:c.G690C:p.L230L,MROH7:uc001cxo.2:exon3:c.G690C:p.L230L,MROH7:uc010ooe.1:exon3:c.G690C:p.L230L,	ENSG00000184313:ENST00000395690:exon3:c.G690C:p.L230L,ENSG00000271723:ENST00000414150:exon3:c.G690C:p.L230L,ENSG00000271723:ENST00000425300:exon3:c.G690C:p.L230L,ENSG00000271723:ENST00000606515:exon3:c.G690C:p.L230L,ENSG00000184313:ENST00000422659:exon2:c.G690C:p.L230L,ENSG00000184313:ENST00000413188:exon2:c.G690C:p.L230L,ENSG00000184313:ENST00000440047:exon3:c.G690C:p.L230L,ENSG00000184313:ENST00000421030:exon3:c.G690C:p.L230L,ENSG00000184313:ENST00000438846:exon1:c.G690C:p.L230L,ENSG00000184313:ENST00000339553:exon3:c.G690C:p.L230L,	Het;G>C	1528;77|63	Hom;G>C	4612;0|156
N	N	-	1	55247852	55247852	A	G	snp	intronic	 	 	 	 	TTC22	Ttc22	ENSG00000006555	tetratricopeptide repeat domain 22	chr1:55245385-55266940	This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]		 					http://www.genecards.org/index.php?path=/Search/keyword/TTC22	https://www.uniprot.org/uniprot/Q5TAA0			http://www.informatics.jax.org/searchtool/Search.do?query=TTC22&submit=Quick%0D%405ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC22	rs12143541	0.067492	0	0	1	0	0	intronic	intronic	intronic	TTC22	TTC22	ENSG00000006555	Na	Na	Na	Na	Na	Na	Het;A>G	66;1|3	Hom;A>G	107;0|5
N	N	-	1	55399711	55399711	C	CT	indel	intergenic	 	 	 	 	AC096536.1																		rs35877944	0.579473	0	0	1	0	0	intergenic	intergenic	intergenic	DHCR24(dist=46790),TMEM61(dist=46626)	HP08874(dist=45828),TRNA_Lys(dist=23831)	ENSG00000233203(dist=45188),ENSG00000143001(dist=46754)	Na	Na	Na	Na	Na	Na	Het;+T	276;23|12	Hom;+T	1434;0|44
N	N	-	1	55399825	55399825	A	G	snp	intergenic	 	 	 	 	AC096536.1																		rs646268	0.579473	0	0	1	0	0	intergenic	intergenic	intergenic	DHCR24(dist=46904),TMEM61(dist=46512)	HP08874(dist=45942),TRNA_Lys(dist=23717)	ENSG00000233203(dist=45302),ENSG00000143001(dist=46640)	Na	Na	Na	Na	Na	Na	Het;A>G	585;40|33	Hom;A>G	1860;0|70
N	N	-	1	55399948	55399948	A	C	snp	intergenic	 	 	 	 	AC096536.1																		rs688014	0.579473	0	0	1	0	0	intergenic	intergenic	intergenic	DHCR24(dist=47027),TMEM61(dist=46389)	HP08874(dist=46065),TRNA_Lys(dist=23594)	ENSG00000233203(dist=45425),ENSG00000143001(dist=46517)	Na	Na	Na	Na	Na	Na	Het;A>C	34;5|2	Hom;A>C	227;0|6
N	N	-	1	55741377	55741377	G	A	snp	intergenic	 	 	 	 	MIR4422HG																		rs6588555	0.822284	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4422(dist=49981),PPAP2B(dist=1219042)	MIR4422(dist=49981),7SK(dist=100822)	ENSG00000231090(dist=41527),ENSG00000231900(dist=91762)	Na	Na	Na	Na	Na	Na	Het;G>A	1409;72|71	Hom;G>A	3477;0|127
N	N	-	1	56441329	56441329	C	T	snp	intergenic	 	 	 	 	LINC01755																		rs11206702	0.288738	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4422(dist=749933),PPAP2B(dist=519090)	AK127270(dist=240654),PPAP2B(dist=519090)	ENSG00000233079(dist=25537),ENSG00000235612(dist=170064)	Na	Na	Na	Na	Na	Na	Het;C>T	1018;39|47	Hom;C>T	2200;0|78
N	N	-	1	57537062	57537062	G	A	snp	intronic	 	 	 	 	DAB1	Dab1	ENSG00000173406	DAB1, reelin adaptor protein	chr1:57460451-59012406	The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; HIV-1; Blood Coagulation Factors; Cholesterol, LDL; Blood Pressure; Tobacco Use Disorder; smoking cessation; Erythrocytes; Eosinophils; Vitamin D Deficiency; Triglycerides; Alzheimer Disease; Body Fat Distribution	Homozygous null display unstable gait and whole-body tremor with a hypoplastic cerebellum devoid of folia, a probable consequence of defective neuronal migration.	Reelin signalling pathway	GO:0001764;neuron migration;IEA|GO:0007162;negative regulation of cell adhesion;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;TAS|GO:0007420;brain development;IEA|GO:0007494;midgut development;IEA|GO:0007628;adult walking behavior;IEA|GO:0016358;dendrite development;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021589;cerebellum structural organization;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0021799;cerebral cortex radially oriented cell migration;IEA|GO:0021813;cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration;IEA|GO:0021942;radial glia guided migration of Purkinje cell;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030154;cell differentiation;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0046426;negative regulation of JAK-STAT cascade;IEA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0051645;Golgi localization;IEA|GO:0097477;lateral motor column neuron migration;IEA	GO:0005829;cytosol;TAS|GO:0005903;brush border;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045177;apical part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAB1		https://hpo.jax.org/app/browse/search?q=DAB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603448	http://www.informatics.jax.org/searchtool/Search.do?query=DAB1&submit=Quick%0D%13351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAB1	rs12754054	0.116414	0	0	1	0	0	intronic	intronic	intronic	DAB1	DAB1	ENSG00000173406	Na	Na	Na	Na	Na	Na	Het;G>A	51;5|3	Hom;G>A	380;0|13
N	N	-	1	59127086	59127086	G	A	snp	synonymous SNV	C480T	L160L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MYSM1	Mysm1	ENSG00000162601	Myb like, SWIRM and MPN domains 1	chr1:59120411-59165764		Triglycerides; Lipids	Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen.	Metalloprotease DUBs	GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030334;regulation of cell migration;IEA|GO:0035522;monoubiquitinated histone H2A deubiquitination;IMP|GO:0043473;pigmentation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051797;regulation of hair follicle development;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYSM1		https://hpo.jax.org/app/browse/search?q=MYSM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612176	http://www.informatics.jax.org/searchtool/Search.do?query=MYSM1&submit=Quick%0D%10742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYSM1	rs7523134	0.247804	0.2572	0.2821	1	0	0	exonic	exonic	exonic	MYSM1	MYSM1	ENSG00000162601	synonymous SNV	synonymous SNV	synonymous SNV	MYSM1:NM_001085487:exon18:c.C2262T:p.L754L,	MYSM1:uc001cza.3:exon5:c.C480T:p.L160L,MYSM1:uc009wab.2:exon18:c.C2262T:p.L754L,	ENSG00000162601:ENST00000472487:exon18:c.C2262T:p.L754L,	Het;G>A	1843;123|88	Hom;G>A	4410;0|160
N	N	-	1	59127193	59127193	C	T	snp	intronic	 	 	 	 	MYSM1	Mysm1	ENSG00000162601	Myb like, SWIRM and MPN domains 1	chr1:59120411-59165764		Triglycerides; Lipids	Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen.	Metalloprotease DUBs	GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030334;regulation of cell migration;IEA|GO:0035522;monoubiquitinated histone H2A deubiquitination;IMP|GO:0043473;pigmentation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051797;regulation of hair follicle development;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYSM1		https://hpo.jax.org/app/browse/search?q=MYSM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612176	http://www.informatics.jax.org/searchtool/Search.do?query=MYSM1&submit=Quick%0D%10742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYSM1	rs7525365	0.240016	0.2489	0.2828	1	0	0	intronic	intronic	intronic	MYSM1	MYSM1	ENSG00000162601	Na	Na	Na	Na	Na	Na	Het;C>T	2131;92|100	Hom;C>T	4086;0|154
N	N	-	1	59131311	59131311	G	T	snp	intronic	 	 	 	 	MYSM1	Mysm1	ENSG00000162601	Myb like, SWIRM and MPN domains 1	chr1:59120411-59165764		Triglycerides; Lipids	Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen.	Metalloprotease DUBs	GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030334;regulation of cell migration;IEA|GO:0035522;monoubiquitinated histone H2A deubiquitination;IMP|GO:0043473;pigmentation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051797;regulation of hair follicle development;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYSM1		https://hpo.jax.org/app/browse/search?q=MYSM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612176	http://www.informatics.jax.org/searchtool/Search.do?query=MYSM1&submit=Quick%0D%10742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYSM1	rs232790	0.895168	0.8648	0.8933	1	0	0	intronic	intronic	intronic	MYSM1	MYSM1	ENSG00000162601	Na	Na	Na	Na	Na	Na	Het;G>T	273;21|14	Hom;G>T	575;0|22
N	N	-	1	59150941	59150941	G	A	snp	intronic	 	 	 	 	MYSM1	Mysm1	ENSG00000162601	Myb like, SWIRM and MPN domains 1	chr1:59120411-59165764		Triglycerides; Lipids	Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen.	Metalloprotease DUBs	GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030334;regulation of cell migration;IEA|GO:0035522;monoubiquitinated histone H2A deubiquitination;IMP|GO:0043473;pigmentation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051797;regulation of hair follicle development;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032403;protein complex binding;IDA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYSM1		https://hpo.jax.org/app/browse/search?q=MYSM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612176	http://www.informatics.jax.org/searchtool/Search.do?query=MYSM1&submit=Quick%0D%10742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYSM1	rs2206764	0.728834	0	0.8994	1	0	0	intronic	intronic	intronic	MYSM1	MYSM1	ENSG00000162601	Na	Na	Na	Na	Na	Na	Het;G>A	484;33|27	Hom;G>A	2098;0|79
N	N	-	1	5923788	5923788	T	G	snp	UTR3	*2641A>C	 	 	 	NPHP4	Nphp4	ENSG00000131697	nephrocystin 4	chr1:5922871-6052533	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	kidney disease; QT interval; Tobacco Use Disorder	Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.	Anchoring of the basal body to the plasma membrane	GO:0007165;signal transduction;NAS|GO:0007632;visual behavior;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0030317;flagellated sperm motility;IEA|GO:0035329;hippo signaling;TAS|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1903348;positive regulation of bicellular tight junction assembly;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IC|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0097470;ribbon synapse;IEA|GO:0097546;ciliary base;IEA|GO:0097730;non-motile cilium;IEA	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPHP4	https://www.uniprot.org/uniprot/O75161	https://hpo.jax.org/app/browse/search?q=NPHP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607215	http://www.informatics.jax.org/searchtool/Search.do?query=NPHP4&submit=Quick%0D%6571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHP4	rs11121648	0.502596	0	0	1	0	0	intronic	UTR3	intronic	NPHP4	NPHP4(uc001alr.1:c.*2641A>C)	ENSG00000131697	Na	Na	Na	Na	Na	Na	Het;T>G	122;1|4	Hom;T>G	150;0|5
N	N	-	1	5934490	5934490	A	G	snp	intronic	 	 	 	 	NPHP4	Nphp4	ENSG00000131697	nephrocystin 4	chr1:5922871-6052533	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	kidney disease; QT interval; Tobacco Use Disorder	Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.	Anchoring of the basal body to the plasma membrane	GO:0007165;signal transduction;NAS|GO:0007632;visual behavior;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0030317;flagellated sperm motility;IEA|GO:0035329;hippo signaling;TAS|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1903348;positive regulation of bicellular tight junction assembly;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IC|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0097470;ribbon synapse;IEA|GO:0097546;ciliary base;IEA|GO:0097730;non-motile cilium;IEA	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPHP4	https://www.uniprot.org/uniprot/O75161	https://hpo.jax.org/app/browse/search?q=NPHP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607215	http://www.informatics.jax.org/searchtool/Search.do?query=NPHP4&submit=Quick%0D%6571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHP4	rs868163	0.569289	0.6729	0.6566	1	0	0	intronic	intronic	intronic	NPHP4	NPHP4	ENSG00000131697	Na	Na	Na	Na	Na	Na	Het;A>G	705;18|33	Hom;A>G	1153;0|43
N	N	-	1	5935162	5935162	A	T	snp	splicing	1279-2T>A	 	 	 	NPHP4	Nphp4	ENSG00000131697	nephrocystin 4	chr1:5922871-6052533	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	kidney disease; QT interval; Tobacco Use Disorder	Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.	Anchoring of the basal body to the plasma membrane	GO:0007165;signal transduction;NAS|GO:0007632;visual behavior;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0030317;flagellated sperm motility;IEA|GO:0035329;hippo signaling;TAS|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1903348;positive regulation of bicellular tight junction assembly;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IC|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0097470;ribbon synapse;IEA|GO:0097546;ciliary base;IEA|GO:0097730;non-motile cilium;IEA	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPHP4	https://www.uniprot.org/uniprot/O75161	https://hpo.jax.org/app/browse/search?q=NPHP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607215	http://www.informatics.jax.org/searchtool/Search.do?query=NPHP4&submit=Quick%0D%6571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHP4	rs1287637	0.843251	0.8431	0.8362	1	0	0	splicing	splicing	splicing	NPHP4(NM_001291593:exon18:c.1279-2T>A,NM_001291594:exon17:c.1282-2T>A,NM_015102:exon21:c.2818-2T>A)	NPHP4(uc001alq.2:exon21:c.2818-2T>A)	ENSG00000131697(ENST00000489180:exon24:c.3365-2T>A,ENST00000378156:exon21:c.2818-2T>A,ENST00000378169:exon18:c.2508-2T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	661;43|31	Hom;A>T	1551;1|60
N	N	-	1	5935222	5935222	T	C	snp	intronic	 	 	 	 	NPHP4	Nphp4	ENSG00000131697	nephrocystin 4	chr1:5922871-6052533	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	kidney disease; QT interval; Tobacco Use Disorder	Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.	Anchoring of the basal body to the plasma membrane	GO:0007165;signal transduction;NAS|GO:0007632;visual behavior;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0030317;flagellated sperm motility;IEA|GO:0035329;hippo signaling;TAS|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1903348;positive regulation of bicellular tight junction assembly;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IC|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0097470;ribbon synapse;IEA|GO:0097546;ciliary base;IEA|GO:0097730;non-motile cilium;IEA	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPHP4	https://www.uniprot.org/uniprot/O75161	https://hpo.jax.org/app/browse/search?q=NPHP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607215	http://www.informatics.jax.org/searchtool/Search.do?query=NPHP4&submit=Quick%0D%6571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHP4	rs963030	0.362021	0	0	1	0	0	intronic	intronic	intronic	NPHP4	NPHP4	ENSG00000131697	Na	Na	Na	Na	Na	Na	Het;T>C	397;23|18	Hom;T>C	1098;0|36
N	N	-	1	6184092	6184092	A	G	snp	nonsynonymous SNV	T4615C	S1539P	polar,hydrophilic,neutral	hydrophobic,neutral	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2843493	0.727636	0.5880	0.6570	0.23	3	13	exonic	exonic	exonic	CHD5	CHD5	ENSG00000116254	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CHD5:NM_015557:exon31:c.T4615C:p.S1539P,	CHD5:uc001alz.2:exon11:c.T1186C:p.S396P,CHD5:uc001amb.2:exon31:c.T4615C:p.S1539P,	ENSG00000116254:ENST00000262450:exon31:c.T4615C:p.S1539P,ENSG00000116254:ENST00000378021:exon31:c.T1186C:p.S396P,	Het;A>G	1462;104|70	Hom;A>G	3569;0|131
N	N	-	1	6184192	6184192	A	G	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2273041	0.638379	0.4995	0.5608	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;A>G	1603;107|81	Hom;A>G	3920;0|144
N	N	-	1	6184286	6184286	A	G	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2273040	0.669728	0	0	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;A>G	304;21|12	Hom;A>G	1154;0|35
N	N	-	1	6188803	6188803	T	A	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs1883766	0.133786	0	0	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;T>A	293;8|10	Hom;T>A	621;0|20
N	N	-	1	6190215	6190215	C	T	snp	nonsynonymous SNV	G283A	G95S	aliphatic,neutral	polar,hydrophilic,neutral	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs9434662	0.283946	0.1738	0.2335	1	0	0	intronic	UTR5	exonic	CHD5	CHD5(uc001alz.2:c.-1128G>A)	ENSG00000116254	Na	Na	nonsynonymous SNV	Na	Na	ENSG00000116254:ENST00000377999:exon2:c.G283A:p.G95S,	Het;C>T	385;33|18	Hom;C>T	1565;0|56
N	N	-	1	6194347	6194347	T	G	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs3765452	0.33726	0.2243	0.2461	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;T>G	1379;62|66	Hom;T>G	2674;0|98
N	N	-	1	6195024	6195024	C	T	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2746067	0.551318	0	0	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;C>T	180;6|10	Hom;C>T	477;0|15
N	N	-	1	6195493	6195493	G	A	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2250504	0.509984	0.3788	0.4817	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;G>A	740;36|36	Hom;G>A	1158;0|41
N	N	-	1	6195598	6195598	A	C	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs9434673	0.51238	0	0	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;A>C	237;5|10	Hom;A>C	336;0|12
N	N	-	1	6196493	6196493	A	G	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs7526887	0.516973	0	0	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;A>G	149;6|6	Hom;A>G	119;0|4
N	N	-	1	6196517	6196517	G	A	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs7513548	0.516773	0	0	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;G>A	237;9|9	Hom;G>A	149;0|5
N	N	-	1	6196869	6196869	A	G	snp	synonymous SNV	T2493C	I831I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2250358	0.517772	0.3900	0.4835	1	0	0	exonic	exonic	exonic	CHD5	CHD5	ENSG00000116254	synonymous SNV	synonymous SNV	synonymous SNV	CHD5:NM_015557:exon16:c.T2493C:p.I831I,	CHD5:uc001amb.2:exon16:c.T2493C:p.I831I,	ENSG00000116254:ENST00000262450:exon16:c.T2493C:p.I831I,ENSG00000116254:ENST00000496404:exon16:c.T2493C:p.I831I,	Het;A>G	740;54|34	Hom;A>G	2385;0|81
N	N	-	1	6196943	6196943	A	G	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2746066	0.516973	0.3900	0.4784	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;A>G	596;46|19	Hom;A>G	2121;0|50
N	N	-	1	6196951	6196951	T	A	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2785582	0.517173	0.3899	0.4769	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;T>A	605;41|19	Hom;T>A	2022;0|46
N	N	-	1	6202245	6202245	G	A	snp	synonymous SNV	C2379T	N793N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs2273032	0.132788	0.0948	0.1181	1	0	0	exonic	exonic	exonic	CHD5	CHD5	ENSG00000116254	synonymous SNV	synonymous SNV	synonymous SNV	CHD5:NM_015557:exon15:c.C2379T:p.N793N,	CHD5:uc001amb.2:exon15:c.C2379T:p.N793N,	ENSG00000116254:ENST00000262450:exon15:c.C2379T:p.N793N,ENSG00000116254:ENST00000496404:exon15:c.C2379T:p.N793N,	Het;G>A	958;44|48	Hom;G>A	2441;0|95
N	N	-	1	6208754	6208754	T	C	snp	intronic	 	 	 	 	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs12129474	0.458466	0	0	1	0	0	intronic	intronic	intronic	CHD5	CHD5	ENSG00000116254	Na	Na	Na	Na	Na	Na	Het;T>C	85;1|3	Hom;T>C	385;0|12
N	N	-	1	6211183	6211183	G	A	snp	synonymous SNV	C903T	F301F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CHD5	Chd5	ENSG00000116254	chromodomain helicase DNA binding protein 5	chr1:6161853-6240183	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]	ovarian cancer	Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS	GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHD5	https://www.uniprot.org/uniprot/Q8TDI0		https://www.ncbi.nlm.nih.gov/omim/?term=610771	http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5	rs9434711	0.50619	0.3940	0.3806	1	0	0	exonic	exonic	exonic	CHD5	CHD5	ENSG00000116254	synonymous SNV	synonymous SNV	synonymous SNV	CHD5:NM_015557:exon7:c.C903T:p.F301F,	CHD5:uc001amb.2:exon7:c.C903T:p.F301F,	ENSG00000116254:ENST00000262450:exon7:c.C903T:p.F301F,ENSG00000116254:ENST00000496404:exon7:c.C903T:p.F301F,	Het;G>A	1553;70|77	Hom;G>A	4055;0|150
N	N	-	1	62120581	62120581	A	G	snp	ncRNA_exonic	 	 	 	 	MGC34796																		rs7532358	0.366414	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	MGC34796	MGC34796	ENSG00000223920	Na	Na	Na	Na	Na	Na	Het;A>G	1680;59|70	Hom;A>G	3921;0|137
N	N	-	1	62121100	62121100	A	C	snp	ncRNA_exonic	 	 	 	 	MGC34796																		rs1061882	0.475439	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	MGC34796	MGC34796	ENSG00000223920	Na	Na	Na	Na	Na	Na	Het;A>C	990;50|48	Hom;A>C	2927;0|107
N	N	-	1	62121272	62121272	T	C	snp	ncRNA_exonic	 	 	 	 	MGC34796																		rs6587940	0.473842	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	MGC34796	MGC34796	ENSG00000223920	Na	Na	Na	Na	Na	Na	Het;T>C	549;58|32	Hom;T>C	1704;0|59
N	N	-	1	62121303	62121303	T	C	snp	ncRNA_exonic	 	 	 	 	MGC34796																		rs6700526	0.230032	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	MGC34796	MGC34796	ENSG00000223920	Na	Na	Na	Na	Na	Na	Het;T>C	637;56|32	Hom;T>C	1660;0|57
N	N	-	1	62121409	62121409	G	A	snp	ncRNA_exonic	 	 	 	 	MGC34796																		rs6587941	0.474042	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	MGC34796	MGC34796	ENSG00000223920	Na	Na	Na	Na	Na	Na	Het;G>A	1566;92|78	Hom;G>A	4350;0|161
N	N	-	1	62231924	62231924	T	TTGA	indel	intronic	 	 	 	 	INADL	 																	rs10631100	0.683107	0.6116	0.6741	1	0	0	intronic	intronic	intronic	INADL	INADL	ENSG00000132849	Na	Na	Na	Na	Na	Na	Het;+TGA	338;15|10	Hom;+TGA	1125;0|23
N	N	-	1	62232130	62232130	T	C	snp	synonymous SNV	T369C	I123I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	INADL	 																	rs11207827	0.25639	0.2704	0.2442	1	0	0	exonic	exonic	exonic	INADL	INADL	ENSG00000132849	synonymous SNV	synonymous SNV	synonymous SNV	INADL:NM_176877:exon4:c.T369C:p.I123I,	INADL:uc001dab.3:exon4:c.T369C:p.I123I,INADL:uc001daa.2:exon4:c.T369C:p.I123I,INADL:uc009waf.1:exon4:c.T369C:p.I123I,	ENSG00000132849:ENST00000316485:exon4:c.T369C:p.I123I,ENSG00000132849:ENST00000371158:exon4:c.T369C:p.I123I,	Het;T>C	536;28|24	Hom;T>C	1731;0|61
N	N	-	1	62732421	62732421	T	C	snp	nonsynonymous SNV	A2302G	T768A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KANK4	Kank4	ENSG00000132854	KN motif and ankyrin repeat domains 4	chr1:62702651-62785085		Waist Circumference; Tunica Media	 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA		http://www.genecards.org/index.php?path=/Search/keyword/KANK4	https://www.uniprot.org/uniprot/Q5T7N3		https://www.ncbi.nlm.nih.gov/omim/?term=614612	http://www.informatics.jax.org/searchtool/Search.do?query=KANK4&submit=Quick%0D%6755ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK4	rs11207949	0.305511	0.2374	0.2850	0.31	4	13	exonic	exonic	exonic	KANK4	KANK4	ENSG00000132854	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	KANK4:NM_181712:exon6:c.A2302G:p.T768A,	KANK4:uc001dah.4:exon6:c.A2302G:p.T768A,KANK4:uc001dai.4:exon5:c.A418G:p.T140A,KANK4:uc001dag.4:exon3:c.A370G:p.T124A,	ENSG00000132854:ENST00000371150:exon3:c.A370G:p.T124A,ENSG00000132854:ENST00000371153:exon6:c.A2302G:p.T768A,ENSG00000132854:ENST00000354381:exon5:c.A418G:p.T140A,	Het;T>C	1199;37|53	Hom;T>C	2246;0|85
N	N	-	1	65255018	65255018	G	A	snp	intronic	 	 	 	 	RAVER2	Raver2	ENSG00000162437	ribonucleoprotein, PTB binding 2	chr1:65210778-65298915			 		GO:0000398;mRNA splicing, via spliceosome;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IBA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAVER2			https://www.ncbi.nlm.nih.gov/omim/?term=609953	http://www.informatics.jax.org/searchtool/Search.do?query=RAVER2&submit=Quick%0D%10705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAVER2	rs2500232	0.534944	0	0	1	0	0	intronic	intronic	intronic	RAVER2	RAVER2	ENSG00000162437	Na	Na	Na	Na	Na	Na	Het;G>A	79;11|5	Hom;G>A	437;0|14
N	N	-	1	66202755	66202755	G	A	snp	intergenic	 	 	 	 	LEPR	Lepr	ENSG00000116678	leptin receptor	chr1:65886248-66107242	The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]	Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Body Weight; Heart Failure; Body Weight|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Fetal Weight|Obesity|Pregnancy in Diabetics; Alzheimer's disease ; Diabetes Mellitus, Type 2; insulin; metabolic syndrome; weight gain; Insulin Resistance; Alzheimer's disease; diabetes, type 2; liver disease; Hypercholesterolemia; Atherosclerosis|Inflammation; Obesity, Morbid; Weight Gain; Obesity, Morbid|Postoperative Complications|Weight Loss; preeclampsia; prostate cancer; Body Weight|Diabetes Mellitus, Type 1|Obesity|Pregnancy in Diabetics; C-reactive protein; Acute-Phase Serum Amyloid A; bone density; Serum Insulin Levels in obese; body mass; cholesterol; insulin; glucose; blood pressure, arterial; sleep apnea; triglyceral; Obesity|Sleep Apnea, Obstructive; hunger and satiety; null; Obesity|Weight Loss; obesity; Metabolic Diseases|Metabolic Syndrome X; Breast Neoplasms|Endometrial Neoplasms|Glucose Intolerance|Insulin Resistance; obesity (BMI = 30 kg/m2); chronic obstructive pulmonary disease; Diabetes Complications|Diabetes Mellitus, Type 2|Fatty Liver|; diabetes, type 2; weight loss; weight gain; body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1; Bone Mineral Density; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; leptin levels; Colonic Neoplasms; several psychiatric disorders; BMI. Fat Mass. and Leptin Levels; Overfeeding; Adiposity; plasma HDL cholesterol (HDL-C) levels; Adenoma|Colorectal Neoplasms|Precancerous Conditions; hypertension; adiposity; normal variation; BMI; C-Reactive Protein; esophageal adenocarcinoma; Spinal Fractures; lymphoma; diabetes, type 2; body mass; leptin; fat mass; obesity; metabolic syndrome; Glucose Metabolism Disorders|Obesity|Spinal Dysraphism; Hypertension; soluble leptin receptor levels ; Coronary Disease; Adenocarcinoma; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Disease, Chronic Obstructive; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols; Inflammation|Obesity|Weight Loss; Polycystic Ovary Syndrome (PCOS); Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Mouth Neoplasms; Obesity; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; fatty acid; uric acid; Acute Coronary Syndrome|Osteoporosis; Fatty Liver|Hepatitis C, Chronic|Insulin Resistance; Body Weight|Puberty, Delayed; HELLP Syndrome; body mass; Insulin Resistance|Metabolic Diseases; lung cancer; Juvenile Obesity; eating patterns; Insulin Resistance|Obesity; Colonic Neoplasms|Microsatellite Instability; Autism; Bulimia; Receptors, Leptin; body mass obesity; other metabolic traits; Birth Weight or Maternal BMI; hyperphagia obesity; body mass index and waist circumference; lymphoma; obesity, localized; Diabetes Mellitus; asthma; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity; Breast Neoplasms|Carcinoma|Mammary Neoplasms|Neovascularization, Pathologic; early-onset prostate cancer; lung cancer ; Churg-Strauss Syndrome|Wegener Granulomatosis; metabolic rate; respiratory quotient; BMI- Edema rosiglitazone or pioglitazone; Type 2 diabetes; Hypercholesterolemia|LDLC levels; colorectal cancer; Pre-Eclampsia; breast cancer ; longevity; Sleep Apnea, Obstructive; binge eating; breast cancer; liver disease, nonalcoholic fatty; diabetes, type 1 ; bladder cancer; Insulin in Obese Women with Impaired Glucose Tolerance (IGT); Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Weight Loss	Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting.	Signaling by Leptin	GO:0001525;angiogenesis;IMP|GO:0006112;energy reserve metabolic process;TAS|GO:0006909;phagocytosis;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;TAS|GO:0008203;cholesterol metabolic process;IEA|GO:0010507;negative regulation of autophagy;IDA|GO:0019953;sexual reproduction;ISS|GO:0030217;T cell differentiation;ISS|GO:0033210;leptin-mediated signaling pathway;ISS|GO:0042593;glucose homeostasis;ISS|GO:0044321;response to leptin;ISS|GO:0045721;negative regulation of gluconeogenesis;IEA|GO:0046850;regulation of bone remodeling;ISS|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0097009;energy homeostasis;ISS|GO:0098868;bone growth;ISS|GO:2000505;regulation of energy homeostasis;ISS|GO:0001525;angiogenesis;IMP|GO:0006112;energy reserve metabolic process;TAS|GO:0006909;phagocytosis;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;TAS|GO:0008203;cholesterol metabolic process;IEA|GO:0010507;negative regulation of autophagy;IDA|GO:0019953;sexual reproduction;ISS|GO:0030217;T cell differentiation;ISS|GO:0033210;leptin-mediated signaling pathway;ISS|GO:0042593;glucose homeostasis;ISS|GO:0044321;response to leptin;ISS|GO:0045721;negative regulation of gluconeogenesis;IEA|GO:0046850;regulation of bone remodeling;ISS|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0097009;energy homeostasis;ISS|GO:0098868;bone growth;ISS|GO:2000505;regulation of energy homeostasis;ISS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0038021;leptin receptor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/LEPR	https://www.uniprot.org/uniprot/P48357	https://hpo.jax.org/app/browse/search?q=LEPR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601007	http://www.informatics.jax.org/searchtool/Search.do?query=LEPR&submit=Quick%0D%120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LEPR	rs10789198	0.523762	0	0	1	0	0	intergenic	intergenic	intergenic	LEPR(dist=99579),PDE4B(dist=55438)	LEPR(dist=99579),PDE4B(dist=55438)	ENSG00000116678(dist=95513),ENSG00000239319(dist=23988)	Na	Na	Na	Na	Na	Na	Het;G>A	125;7|8	Hom;G>A	365;0|14
N	N	-	1	67292473	67292473	A	AT	indel	intronic	 	 	 	 	WDR78	Wdr78	ENSG00000152763	WD repeat domain 78	chr1:67278568-67390570			 		GO:0002244;hematopoietic progenitor cell differentiation;IEA			http://www.genecards.org/index.php?path=/Search/keyword/WDR78	https://www.uniprot.org/uniprot/Q5VTH9			http://www.informatics.jax.org/searchtool/Search.do?query=WDR78&submit=Quick%0D%9587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR78	rs34718535	0.46865	0.4602	0.4985	1	0	0	intronic	intronic	intronic	WDR78	WDR78	ENSG00000152763	Na	Na	Na	Na	Na	Na	Het;+T	290;3|8	Hom;+T	638;0|15
N	N	-	1	67292478	67292478	T	A	snp	intronic	 	 	 	 	WDR78	Wdr78	ENSG00000152763	WD repeat domain 78	chr1:67278568-67390570			 		GO:0002244;hematopoietic progenitor cell differentiation;IEA			http://www.genecards.org/index.php?path=/Search/keyword/WDR78	https://www.uniprot.org/uniprot/Q5VTH9			http://www.informatics.jax.org/searchtool/Search.do?query=WDR78&submit=Quick%0D%9587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR78	rs36067642	0.46905	0.4619	0.4987	1	0	0	intronic	intronic	intronic	WDR78	WDR78	ENSG00000152763	Na	Na	Na	Na	Na	Na	Het;T>A	364;3|11	Hom;T>A	647;0|15
N	N	-	1	67303303	67303303	A	G	snp	UTR3	*33T>C	 	 	 	WDR78	Wdr78	ENSG00000152763	WD repeat domain 78	chr1:67278568-67390570			 		GO:0002244;hematopoietic progenitor cell differentiation;IEA			http://www.genecards.org/index.php?path=/Search/keyword/WDR78	https://www.uniprot.org/uniprot/Q5VTH9			http://www.informatics.jax.org/searchtool/Search.do?query=WDR78&submit=Quick%0D%9587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR78	rs6698076	0.498802	0.3939	0.5304	1	0	0	UTR3	UTR3	UTR3	WDR78(NM_207014:c.*33T>C)	WDR78(uc001dcy.3:c.*33T>C)	ENSG00000152763(ENST00000371023:c.*33T>C,ENST00000531552:c.*33T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1009;41|41	Hom;A>G	1890;0|63
N	N	-	1	67359195	67359195	T	A	snp	intronic	 	 	 	 	WDR78	Wdr78	ENSG00000152763	WD repeat domain 78	chr1:67278568-67390570			 		GO:0002244;hematopoietic progenitor cell differentiation;IEA			http://www.genecards.org/index.php?path=/Search/keyword/WDR78	https://www.uniprot.org/uniprot/Q5VTH9			http://www.informatics.jax.org/searchtool/Search.do?query=WDR78&submit=Quick%0D%9587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR78	rs3008881	0.321885	0	0	1	0	0	intronic	intronic	intronic	WDR78	WDR78	ENSG00000152763	Na	Na	Na	Na	Na	Na	Het;T>A	167;9|8	Hom;T>A	435;0|13
N	N	-	1	67508080	67508084	CCACT	C	indel	intronic	 	 	 	 	SLC35D1	Slc35d1	ENSG00000116704	solute carrier family 35 member D1	chr1:67465015-67519782	Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit neonatal lethality and chondrodystrophy associated with impaired chondroitin sulfate biosynthesis.	Transport of nucleotide sugars	GO:0006065;UDP-glucuronate biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015781;pyrimidine nucleotide-sugar transport;IEA|GO:0015787;UDP-glucuronic acid transport;IEA|GO:0030206;chondroitin sulfate biosynthetic process;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0090481;pyrimidine nucleotide-sugar transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005461;UDP-glucuronic acid transmembrane transporter activity;TAS|GO:0015165;pyrimidine nucleotide-sugar transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC35D1	https://www.uniprot.org/uniprot/Q9NTN3	https://hpo.jax.org/app/browse/search?q=SLC35D1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610804	http://www.informatics.jax.org/searchtool/Search.do?query=SLC35D1&submit=Quick%0D%4774ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35D1	rs10543599	0.373802	0	0	1	0	0	intronic	intronic	intronic	SLC35D1	SLC35D1	ENSG00000116704	Na	Na	Na	Na	Na	Na	Het;-CACT	554;13|15	Hom;-CACT	1248;1|30
N	N	-	1	67591611	67591612	GA	G	indel	intronic	 	 	 	 	C1orf141	4921539E11Rik	ENSG00000203963	chromosome 1 open reading frame 141	chr1:67557848-67697536		Leprosy	 					http://www.genecards.org/index.php?path=/Search/keyword/C1orf141				http://www.informatics.jax.org/searchtool/Search.do?query=C1orf141&submit=Quick%0D%17173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf141	rs11336462	0.542931	0	0.2438	1	0	0	intronic	intronic	intronic	C1orf141	C1orf141	ENSG00000203963	Na	Na	Na	Na	Na	Na	Het;-A	272;9|21	Hom;-A	459;3|25
N	N	-	1	68947318	68947318	C	CA	indel	UTR5	-157G>TG	 	 	 	DEPDC1	Depdc1a	ENSG00000024526	DEP domain containing 1	chr1:68939835-68962904		Phosphorus; Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IBA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DEPDC1	https://www.uniprot.org/uniprot/Q5TB30		https://www.ncbi.nlm.nih.gov/omim/?term=612002	http://www.informatics.jax.org/searchtool/Search.do?query=DEPDC1&submit=Quick%0D%695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEPDC1	rs3833522	0.621605	0.8035	0.7368	1	0	0	intronic	UTR5	ncRNA_intronic	DEPDC1	DEPDC1(uc001dej.4:c.-157G>TG)	ENSG00000233589	Na	Na	Na	Na	Na	Na	Het;+A	747;40|33	Hom;+A	1101;0|36
N	N	-	1	69003582	69003582	C	T	snp	ncRNA_exonic	 	 	 	 	DEPDC1-AS1																		rs912499	0.641773	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DEPDC1-AS1	BC020917	ENSG00000234264	Na	Na	Na	Na	Na	Na	Het;C>T	2203;131|110	Hom;C>T	5984;0|219
N	N	-	1	69003756	69003756	C	A	snp	ncRNA_exonic	 	 	 	 	DEPDC1-AS1																		rs912498	0.604832	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DEPDC1-AS1	BC020917	ENSG00000234264	Na	Na	Na	Na	Na	Na	Het;C>A	1284;89|64	Hom;C>A	3625;0|133
N	N	-	1	69704245	69704245	T	G	snp	intergenic	 	 	 	 	LINC01707																		rs2245510	0.680511	0	0	1	0	0	intergenic	intergenic	intergenic	DEPDC1-AS1(dist=699935),LRRC7(dist=521613)	BC020917(dist=699935),LRRC7(dist=328623)	ENSG00000223883(dist=53559),ENSG00000235446(dist=4810)	Na	Na	Na	Na	Na	Na	Het;T>G	142;13|8	Hom;T>G	997;0|36
N	N	-	1	69704299	69704299	T	TA	indel	intergenic	 	 	 	 	LINC01707																		rs11449596	0.680511	0	0	1	0	0	intergenic	intergenic	intergenic	DEPDC1-AS1(dist=699989),LRRC7(dist=521559)	BC020917(dist=699989),LRRC7(dist=328569)	ENSG00000223883(dist=53613),ENSG00000235446(dist=4756)	Na	Na	Na	Na	Na	Na	Het;+A	235;18|12	Hom;+A	1278;2|52
N	N	-	1	70226125	70226125	T	C	snp	intronic	 	 	 	 	LRRC7	Lrrc7	ENSG00000033122	leucine rich repeat containing 7	chr1:70034081-70617628	Densin is a junction protein suggested to play a role in establishment of specific cell-cell contacts in the post-synaptic densities of the brain and the slit diaphragm of the kidney podocyte. 	Body Height; Hypertension; Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity	Mice homozygous for a knock-out allele exhibit limb grasping, reduced long term depression, increased anxiety, increased aggression towards other mice, impaired spatial memory, decreased prepulse inhibition, decreased nesting building behavior, and abnormal dendritic spines.	Neutrophil degranulation	GO:0007165;signal transduction;IBA|GO:0010976;positive regulation of neuron projection development;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0007165;signal transduction;IBA|GO:0010976;positive regulation of neuron projection development;IBA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0035580;specific granule lumen;TAS|GO:0043005;neuron projection;IBA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRRC7	https://www.uniprot.org/uniprot/Q96NW7		https://www.ncbi.nlm.nih.gov/omim/?term=614453	http://www.informatics.jax.org/searchtool/Search.do?query=LRRC7&submit=Quick%0D%66ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC7	rs12407496	0.173323	0.1592	0.1705	1	0	0	intronic	intronic	intronic	LRRC7	LRRC7	ENSG00000033122	Na	Na	Na	Na	Na	Na	Het;T>C	158;4|6	Hom;T>C	724;0|27
N	N	-	1	71093897	71093897	A	G	snp	intergenic	 	 	 	 	AL354872.1																		rs1334994	0.709665	0	0	1	0	0	intergenic	intergenic	intergenic	CTH(dist=188363),LOC101927244(dist=78239)	CTH(dist=188363),BC041441(dist=78239)	ENSG00000233020(dist=96722),ENSG00000237033(dist=32443)	Na	Na	Na	Na	Na	Na	Het;A>G	90;4|6	Hom;A>G	152;0|6
N	N	-	1	71105331	71105331	T	A	snp	intergenic	 	 	 	 	AL354872.1																		rs9633289	0.107628	0	0	1	0	0	intergenic	intergenic	intergenic	CTH(dist=199797),LOC101927244(dist=66805)	CTH(dist=199797),BC041441(dist=66805)	ENSG00000233020(dist=108156),ENSG00000237033(dist=21009)	Na	Na	Na	Na	Na	Na	Het;T>A	1620;69|80	Hom;T>A	3576;0|135
N	N	-	1	71126765	71126765	C	T	snp	ncRNA_exonic	 	 	 	 	CASP3P1																		rs2820533	0.724441	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CTH(dist=221231),LOC101927244(dist=45371)	CTH(dist=221231),BC041441(dist=45371)	ENSG00000237033	Na	Na	Na	Na	Na	Na	Het;C>T	148;19|9	Hom;C>T	552;0|18
N	N	-	1	71126822	71126822	G	A	snp	ncRNA_exonic	 	 	 	 	CASP3P1																		rs2820532	0.724441	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CTH(dist=221288),LOC101927244(dist=45314)	CTH(dist=221288),BC041441(dist=45314)	ENSG00000237033	Na	Na	Na	Na	Na	Na	Het;G>A	346;19|18	Hom;G>A	879;0|34
N	N	-	1	71127022	71127022	C	G	snp	upstream	 	 	 	 	CASP3P1																		rs13375164	0.0686901	0	0	1	0	0	intergenic	intergenic	upstream	CTH(dist=221488),LOC101927244(dist=45114)	CTH(dist=221488),BC041441(dist=45114)	ENSG00000237033	Na	Na	Na	Na	Na	Na	Het;C>G	37;3|2	Hom;C>G	132;0|4
N	N	-	1	72053347	72053357	GCACACACACA	G	indel	intronic	 	 	 	 	NEGR1	Negr1	ENSG00000172260	neuronal growth regulator 1	chr1:71861623-72748417		Mental Competency; Type 2 Diabetes| edema | rosiglitazone; Tissue Plasminogen Activator; Echocardiography; Body mass index; Diabetic Nephropathies; Type 2 diabetes; Hip; obesity|Type 2 diabetes; Tobacco Use Disorder; obesity|asthma; Erythrocyte Count; anorexia nervosa; Diabetes Mellitus, Type 2|Obesity; Cholesterol, HDL; Body Mass Index; Parkinson Disease; Parkinson's disease ; weight ; systemic lupus erythematosus; Body Weight|Obesity; obesity; hemostatic factors and hematological phenotypes; Body Weight; Lymphocytes; Lupus Erythematosus, Systemic	Mice homozygous for a knock-out or ENU-induced allele exhibit reduced body weight.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007626;locomotory behavior;IEA|GO:0007631;feeding behavior;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;IEA	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NEGR1			https://www.ncbi.nlm.nih.gov/omim/?term=613173	http://www.informatics.jax.org/searchtool/Search.do?query=NEGR1&submit=Quick%0D%13116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEGR1	rs67250351	0.849441	0	0	1	0	0	intronic	intronic	intronic	NEGR1	NEGR1	ENSG00000172260	Na	Na	Na	Na	Na	Na	Het;-CACACACACA	86;1|3	Hom;-CACACACACA	143;0|4
N	N	-	1	75006027	75006027	A	G	snp	intronic	 	 	 	 	FPGT-TNNI3K		ENSG00000259030	FPGT-TNNI3K readthrough	chr1:74663919-75009666	This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. [provided by RefSeq, Dec 2010]				GO:0002027;regulation of heart rate;IBA|GO:0006468;protein phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:1903779;regulation of cardiac conduction;IBA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA	GO:0004672;protein kinase activity;IBA|GO:0004871;signal transducer activity;IBA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FPGT-TNNI3K				http://www.informatics.jax.org/searchtool/Search.do?query=FPGT-TNNI3K&submit=Quick%0D%20317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FPGT-TNNI3K	rs3895907	0.324481	0.4446	0.4555	1	0	0	intronic	intronic	intronic	FPGT-TNNI3K,TNNI3K	FPGT-TNNI3K,TNNI3K	ENSG00000116783,ENSG00000259030	Na	Na	Na	Na	Na	Na	Het;A>G	787;15|34	Hom;A>G	1196;0|40
N	N	-	1	75065441	75065441	C	T	snp	nonsynonymous SNV	G1664A	R555H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ERICH3	Erich3																	rs696698	0.0976438	0.0584	0.0639	0.00	0	12	exonic	exonic	exonic	ERICH3	C1orf173	ENSG00000178965	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	ERICH3:NM_001002912:exon11:c.G1664A:p.R555H,	C1orf173:uc001dgg.3:exon11:c.G1664A:p.R555H,C1orf173:uc001dgi.4:exon6:c.G1046A:p.R349H,	ENSG00000178965:ENST00000326665:exon11:c.G1664A:p.R555H,ENSG00000178965:ENST00000420661:exon6:c.G1073A:p.R358H,	Het;C>T	1193;106|65	Hom;C>T	3695;4|141
N	N	-	1	75072165	75072165	C	A	snp	ncRNA_intronic	 	 	 	 	CR627203																		rs699847	0.0756789	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ERICH3-AS1	CR627203	ENSG00000234497	Na	Na	Na	Na	Na	Na	Het;C>A	154;3|6	Hom;C>A	271;0|9
N	N	-	1	75081036	75081037	TA	T	indel	ncRNA_intronic	 	 	 	 	CR627203																		rs3214831	0.081869	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ERICH3-AS1	CR627203	ENSG00000234497	Na	Na	Na	Na	Na	Na	Het;-A	741;19|29	Hom;-A	1249;2|43
N	N	-	1	75086412	75086412	G	C	snp	ncRNA_intronic	 	 	 	 	CR627203																		rs41289218	0.171925	0.0966	0.1602	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ERICH3-AS1	CR627203	ENSG00000234497	Na	Na	Na	Na	Na	Na	Het;G>C	593;28|27	Hom;G>C	2256;0|78
N	N	-	1	75088911	75088911	A	G	snp	nonsynonymous SNV	T287C	L96P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	ERICH3	Erich3																	rs1417586	0.173522	0	0.375	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	ERICH3-AS1	CR627203	ENSG00000178965	Na	Na	nonsynonymous SNV	Na	Na	ENSG00000178965:ENST00000479666:exon3:c.T287C:p.L96P,	Het;A>G	2137;87|94	Hom;A>G	4535;0|154
N	N	-	1	75089136	75089136	T	C	snp	ncRNA_exonic	 	 	 	 	ERICH3-AS1																		rs699856	0.647165	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	ERICH3-AS1	CR627203	ENSG00000178965	Na	Na	Na	Na	Na	Na	Het;T>C	2127;79|85	Hom;T>C	3418;1|114
N	N	-	1	75089200	75089200	A	G	snp	ncRNA_exonic	 	 	 	 	ERICH3-AS1																		rs1340986	0.170327	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	ERICH3-AS1	CR627203	ENSG00000178965	Na	Na	Na	Na	Na	Na	Het;A>G	1846;86|85	Hom;A>G	3585;0|130
N	N	-	1	75089442	75089442	A	G	snp	ncRNA_exonic	 	 	 	 	ERICH3-AS1																		rs7512964	0.173722	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	ERICH3-AS1	CR627203	ENSG00000178965	Na	Na	Na	Na	Na	Na	Het;A>G	2185;95|93	Hom;A>G	5102;0|171
N	N	-	1	75090379	75090379	C	A	snp	ncRNA_exonic	 	 	 	 	ERICH3-AS1																		rs670928	0.18131	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	ERICH3-AS1	CR627203	ENSG00000178965	Na	Na	Na	Na	Na	Na	Het;C>A	823;69|43	Hom;C>A	2497;0|94
N	N	-	1	75091063	75091063	A	G	snp	ncRNA_exonic	 	 	 	 	ERICH3-AS1																		rs75912175	0.184904	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	ERICH3-AS1	CR627203	ENSG00000178965	Na	Na	Na	Na	Na	Na	Het;A>G	3041;147|136	Hom;A>G	8701;2|311
N	N	-	1	75108863	75108863	A	C	snp	intronic	 	 	 	 	ERICH3	Erich3																	rs623171	0.674521	0	0	1	0	0	intronic	intronic	intronic	ERICH3	C1orf173	ENSG00000178965	Na	Na	Na	Na	Na	Na	Het;A>C	171;7|8	Hom;A>C	427;0|15
N	N	-	1	75190452	75190452	C	T	snp	synonymous SNV	G54A	G18G	aliphatic,neutral	aliphatic,neutral	CRYZ	Cryz	ENSG00000116791	crystallin zeta	chr1:75171170-75199092	Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]	Parkinson's disease	 		GO:0007601;visual perception;TAS|GO:0042178;xenobiotic catabolic process;IDA|GO:0051289;protein homotetramerization;IPI|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0003960;NADPH:quinone reductase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0070402;NADPH binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CRYZ	https://www.uniprot.org/uniprot/Q08257		https://www.ncbi.nlm.nih.gov/omim/?term=123691	http://www.informatics.jax.org/searchtool/Search.do?query=CRYZ&submit=Quick%0D%4794ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYZ	rs1051122	0.773562	0.7669	0.7529	1	0	0	exonic	exonic	exonic	CRYZ	CRYZ	ENSG00000116791	synonymous SNV	synonymous SNV	synonymous SNV	CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G,CRYZ:NM_001130043:exon2:c.G54A:p.G18G,	CRYZ:uc001dgl.3:exon2:c.G54A:p.G18G,CRYZ:uc001dgk.3:exon3:c.G54A:p.G18G,CRYZ:uc001dgj.3:exon2:c.G54A:p.G18G,	ENSG00000116791:ENST00000370870:exon3:c.G54A:p.G18G,ENSG00000116791:ENST00000340866:exon2:c.G54A:p.G18G,ENSG00000116791:ENST00000441120:exon2:c.G54A:p.G18G,ENSG00000116791:ENST00000370871:exon2:c.G54A:p.G18G,ENSG00000116791:ENST00000417775:exon3:c.G54A:p.G18G,	Het;C>T	936;46|47	Hom;C>T	1983;0|77
N	N	-	1	7520601	7520601	T	C	snp	intronic	 	 	 	 	CAMTA1	Camta1	ENSG00000171735	calmodulin binding transcription activator 1	chr1:6845384-7829766		Stroke; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; memory disturbance; Waist Circumference; Type 2 diabetes; hypertension; Tobacco Use Disorder; Heart Failure; Fibrinogen; Interleukin-6; Coronary Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMTA1		https://hpo.jax.org/app/browse/search?q=CAMTA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611501	http://www.informatics.jax.org/searchtool/Search.do?query=CAMTA1&submit=Quick%0D%12997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMTA1	rs1750837	0.508187	0	0	1	0	0	intronic	intronic	intronic	CAMTA1	CAMTA1	ENSG00000171735	Na	Na	Na	Na	Na	Na	Het;T>C	53;2|4	Hom;T>C	104;0|4
N	N	-	1	7520629	7520629	T	C	snp	intronic	 	 	 	 	CAMTA1	Camta1	ENSG00000171735	calmodulin binding transcription activator 1	chr1:6845384-7829766		Stroke; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; memory disturbance; Waist Circumference; Type 2 diabetes; hypertension; Tobacco Use Disorder; Heart Failure; Fibrinogen; Interleukin-6; Coronary Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMTA1		https://hpo.jax.org/app/browse/search?q=CAMTA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611501	http://www.informatics.jax.org/searchtool/Search.do?query=CAMTA1&submit=Quick%0D%12997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMTA1	rs1725233	0.758786	0	0	1	0	0	intronic	intronic	intronic	CAMTA1	CAMTA1	ENSG00000171735	Na	Na	Na	Na	Na	Na	Het;T>C	53;2|4	Hom;T>C	103;0|4
N	N	-	1	7520653	7520654	GC	G	indel	intronic	 	 	 	 	CAMTA1	Camta1	ENSG00000171735	calmodulin binding transcription activator 1	chr1:6845384-7829766		Stroke; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; memory disturbance; Waist Circumference; Type 2 diabetes; hypertension; Tobacco Use Disorder; Heart Failure; Fibrinogen; Interleukin-6; Coronary Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMTA1		https://hpo.jax.org/app/browse/search?q=CAMTA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611501	http://www.informatics.jax.org/searchtool/Search.do?query=CAMTA1&submit=Quick%0D%12997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMTA1	rs79831740	0.508986	0	0	1	0	0	intronic	intronic	intronic	CAMTA1	CAMTA1	ENSG00000171735	Na	Na	Na	Na	Na	Na	Het;-C	125;1|6	Hom;-C	146;0|6
N	N	-	1	752721	752721	A	G	snp	upstream	 	 	 	 	FAM87B																		rs3131972	0.653355	0	0	1	0	0	upstream	intergenic	ncRNA_intronic	FAM87B	LOC100288069(dist=38653),LINC00115(dist=8865)	ENSG00000240453	Na	Na	Na	Na	Na	Na	Het;A>G	647;21|29	Hom;A>G	1925;0|64
N	N	-	1	7527996	7527996	T	C	snp	intronic	 	 	 	 	CAMTA1	Camta1	ENSG00000171735	calmodulin binding transcription activator 1	chr1:6845384-7829766		Stroke; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; memory disturbance; Waist Circumference; Type 2 diabetes; hypertension; Tobacco Use Disorder; Heart Failure; Fibrinogen; Interleukin-6; Coronary Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMTA1		https://hpo.jax.org/app/browse/search?q=CAMTA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611501	http://www.informatics.jax.org/searchtool/Search.do?query=CAMTA1&submit=Quick%0D%12997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMTA1	rs1201529	0.464058	0.6066	0.4988	1	0	0	intronic	intronic	intronic	CAMTA1	CAMTA1	ENSG00000171735	Na	Na	Na	Na	Na	Na	Het;T>C	412;16|18	Hom;T>C	851;0|32
N	N	-	1	753405	753405	C	A	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs3115860	0.751797	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=39337),LINC00115(dist=8181)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;C>A	2104;167|104	Hom;C>A	5347;0|192
N	N	-	1	753425	753425	T	C	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs3131970	0.749002	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=39357),LINC00115(dist=8161)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;T>C	2103;178|103	Hom;T>C	5413;0|184
N	N	-	1	753474	753474	C	G	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs2073814	0.611422	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=39406),LINC00115(dist=8112)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;C>G	2663;154|118	Hom;C>G	6073;0|203
N	N	-	1	754182	754182	A	G	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs3131969	0.678514	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=40114),LINC00115(dist=7404)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;A>G	6605;164|176	Hom;A>G	14882;0|340
N	N	-	1	754192	754192	A	G	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs3131968	0.678514	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=40124),LINC00115(dist=7394)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;A>G	6565;166|169	Hom;A>G	9320;4|338
N	N	-	1	754334	754334	T	C	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs3131967	0.684305	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=40266),LINC00115(dist=7252)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;T>C	2630;127|124	Hom;T>C	8295;0|301
N	N	-	1	754503	754503	G	A	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs3115859	0.663938	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=40435),LINC00115(dist=7083)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;G>A	1237;106|63	Hom;G>A	4743;0|172
N	N	-	1	754964	754964	C	T	snp	ncRNA_exonic	 	 	 	 	FAM87B																		rs3131966	0.663339	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	FAM87B	LOC100288069(dist=40896),LINC00115(dist=6622)	ENSG00000177757	Na	Na	Na	Na	Na	Na	Het;C>T	2630;111|118	Hom;C>T	5551;2|201
N	N	-	1	75681511	75681511	T	C	snp	synonymous SNV	A1656G	Q552Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs595009	0.896565	0.8492	0.8680	1	0	0	exonic	exonic	exonic	SLC44A5	SLC44A5	ENSG00000137968	synonymous SNV	synonymous SNV	synonymous SNV	SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,	SLC44A5:uc001dgu.3:exon19:c.A1656G:p.Q552Q,SLC44A5:uc001dgt.2:exon19:c.A1656G:p.Q552Q,SLC44A5:uc001dgr.2:exon21:c.A1530G:p.Q510Q,SLC44A5:uc010oqz.1:exon18:c.A1773G:p.Q591Q,SLC44A5:uc010ora.2:exon17:c.A1638G:p.Q546Q,SLC44A5:uc001dgs.2:exon20:c.A1530G:p.Q510Q,SLC44A5:uc010orb.2:exon17:c.A1266G:p.Q422Q,	ENSG00000137968:ENST00000370859:exon19:c.A1656G:p.Q552Q,ENSG00000137968:ENST00000370855:exon19:c.A1656G:p.Q552Q,ENSG00000137968:ENST00000535611:exon16:c.A1266G:p.Q422Q,	Het;T>C	1538;106|75	Hom;T>C	4645;0|165
N	N	-	1	75684529	75684529	A	G	snp	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs610159	0.915335	0	0	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;A>G	70;3|3	Hom;A>G	335;0|9
N	N	-	1	75699646	75699646	T	C	snp	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs10493564	0.233626	0.2968	0.2557	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;T>C	753;27|38	Hom;T>C	2008;0|73
N	N	-	1	75699771	75699771	A	G	snp	synonymous SNV	T753C	I251I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs10493565	0.233626	0.2967	0.2557	1	0	0	exonic	exonic	exonic	SLC44A5	SLC44A5	ENSG00000137968	synonymous SNV	synonymous SNV	synonymous SNV	SLC44A5:NM_152697:exon12:c.T753C:p.I251I,SLC44A5:NM_001130058:exon12:c.T753C:p.I251I,	SLC44A5:uc001dgu.3:exon12:c.T753C:p.I251I,SLC44A5:uc001dgt.2:exon12:c.T753C:p.I251I,SLC44A5:uc001dgr.2:exon14:c.T627C:p.I209I,SLC44A5:uc010oqz.1:exon11:c.T870C:p.I290I,SLC44A5:uc010ora.2:exon10:c.T735C:p.I245I,SLC44A5:uc001dgs.2:exon13:c.T627C:p.I209I,SLC44A5:uc010orb.2:exon10:c.T363C:p.I121I,	ENSG00000137968:ENST00000370859:exon12:c.T753C:p.I251I,ENSG00000137968:ENST00000370855:exon12:c.T753C:p.I251I,ENSG00000137968:ENST00000535611:exon9:c.T363C:p.I121I,	Het;A>G	531;44|29	Hom;A>G	2583;0|99
N	N	-	1	75699831	75699831	G	A	snp	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs10493566	0.233626	0.2960	0.2551	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;G>A	193;17|11	Hom;G>A	1515;0|54
N	N	-	1	75707652	75707652	C	T	snp	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs7556057	0.224042	0.2866	0.2521	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;C>T	303;13|15	Hom;C>T	741;0|27
N	N	-	1	75708529	75708529	A	T	snp	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs1856128	0.217053	0.2751	0.2475	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;A>T	457;26|21	Hom;A>T	1879;0|68
N	N	-	1	76007232	76007232	C	T	snp	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs211744	0.185703	0	0	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;C>T	88;2|5	Hom;C>T	511;0|18
N	N	-	1	76019568	76019571	CAGG	C	indel	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs145770159	0	0	0	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;-AGG	40;2|2	Hom;-AGG	141;0|4
N	N	-	1	76044120	76044120	T	G	snp	intronic	 	 	 	 	SLC44A5	Slc44a5	ENSG00000137968	solute carrier family 44 member 5	chr1:75667816-76076801		Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5	https://www.uniprot.org/uniprot/Q8NCS7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5	rs55694101	0.139776	0	0	1	0	0	intronic	intronic	intronic	SLC44A5	SLC44A5	ENSG00000137968	Na	Na	Na	Na	Na	Na	Het;T>G	473;19|21	Hom;T>G	1142;0|37
N	N	-	1	761732	761732	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00115																		rs2286139	0.625799	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LINC00115	LINC00115(uc010nxx.2:c.*348G>A)	ENSG00000225880	Na	Na	Na	Na	Na	Na	Het;C>T	272;52|18	Hom;C>T	780;0|30
N	N	-	1	76190216	76190216	G	A	snp	UTR5	-257G>A	 	 	 	ACADM	Acadm	ENSG00000117054	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	chr1:76190036-76253260	This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Disorder of muscle, unspec|Lipid Metabolism, Inborn Errors|Muscular Diseases; plasma HDL cholesterol (HDL-C) levels; MCADD (medium chain acyl-coA hydrhydrogenase defin; medium-chain acyl-CoA dehydrogenase deficiency; Death, Sudden; serum metabolites; SCAD deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; null; lipid metabolism disorders; medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; Lipid Metabolism, Inborn Errors; Type 2 Diabetes| edema | rosiglitazone; Deficiency Diseases; metabolite profiles; normal variation	Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting.	Beta oxidation of octanoyl-CoA to hexanoyl-CoA	GO:0001889;liver development;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0006082;organic acid metabolic process;IEA|GO:0006111;regulation of gluconeogenesis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0007507;heart development;IEA|GO:0008152;metabolic process;IEA|GO:0009409;response to cold;IEA|GO:0009437;carnitine metabolic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019254;carnitine metabolic process, CoA-linked;IMP|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0042594;response to starvation;IEA|GO:0045329;carnitine biosynthetic process;IMP|GO:0051791;medium-chain fatty acid metabolic process;IDA|GO:0051793;medium-chain fatty acid catabolic process;IDA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055114;oxidation-reduction process;IDA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0016607;nuclear speck;IDA|GO:0030424;axon;IDA|GO:0070062;extracellular exosome;IDA	GO:0003995;acyl-CoA dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0042802;identical protein binding;IDA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0070991;medium-chain-acyl-CoA dehydrogenase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ACADM	https://www.uniprot.org/uniprot/P11310	https://hpo.jax.org/app/browse/search?q=ACADM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607008	http://www.informatics.jax.org/searchtool/Search.do?query=ACADM&submit=Quick%0D%4831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACADM	rs17848068	0.204273	0	0	1	0	0	UTR5	UTR5	UTR5	ACADM(NM_000016:c.-257G>A,NM_001286043:c.-257G>A,NM_001127328:c.-257G>A,NM_001286044:c.-15548G>A,NM_001286042:c.-277G>A)	ACADM(uc010orc.1:c.-257G>A,uc010ord.2:c.-8364G>A,uc001dgw.4:c.-257G>A,uc009wbp.3:c.-257G>A,uc009wbr.3:c.-257G>A,uc010ore.2:c.-277G>A,uc010orf.2:c.-15548G>A)	ENSG00000117054(ENST00000370841:c.-257G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1046;36|48	Hom;G>A	2246;0|81
N	N	-	1	76207745	76207745	A	G	snp	ncRNA_exonic	 	 	 	 	DLSTP1																		rs74090730	0.203075	0	0	1	0	0	ncRNA_exonic	intronic	intronic	DLSTP1	ACADM	ENSG00000117054	Na	Na	Na	Na	Na	Na	Het;A>G	940;44|45	Hom;A>G	1384;0|54
N	N	-	1	76208989	76208989	T	G	snp	ncRNA_exonic	 	 	 	 	DLSTP1																		rs11578480	0.194888	0	0	1	0	0	ncRNA_exonic	intronic	intronic	DLSTP1	ACADM	ENSG00000117054	Na	Na	Na	Na	Na	Na	Het;T>G	2735;101|124	Hom;T>G	6524;0|234
N	N	-	1	76210524	76210524	T	C	snp	ncRNA_exonic	 	 	 	 	DLSTP1																		rs17647178	0.194888	0	0	1	0	0	ncRNA_exonic	intronic	intronic	DLSTP1	ACADM	ENSG00000117054	Na	Na	Na	Na	Na	Na	Het;T>C	1779;65|77	Hom;T>C	2914;0|105
N	N	-	1	762273	762273	G	A	snp	nonsynonymous SNV	C299T	P100L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	LINC00115																		rs3115849	0.731829	0	0.8060	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LINC00115	LINC00115	ENSG00000225880	Na	nonsynonymous SNV	Na	Na	LINC00115:uc010nxx.2:exon1:c.C299T:p.P100L,	Na	Het;G>A	918;88|45	Hom;G>A	2800;0|100
N	N	-	1	76251746	76251746	T	C	snp	UTR3	*50T>C	 	 	 	ACADM	Acadm	ENSG00000117054	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	chr1:76190036-76253260	This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Disorder of muscle, unspec|Lipid Metabolism, Inborn Errors|Muscular Diseases; plasma HDL cholesterol (HDL-C) levels; MCADD (medium chain acyl-coA hydrhydrogenase defin; medium-chain acyl-CoA dehydrogenase deficiency; Death, Sudden; serum metabolites; SCAD deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; null; lipid metabolism disorders; medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; Lipid Metabolism, Inborn Errors; Type 2 Diabetes| edema | rosiglitazone; Deficiency Diseases; metabolite profiles; normal variation	Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting.	Beta oxidation of octanoyl-CoA to hexanoyl-CoA	GO:0001889;liver development;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0006082;organic acid metabolic process;IEA|GO:0006111;regulation of gluconeogenesis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0007507;heart development;IEA|GO:0008152;metabolic process;IEA|GO:0009409;response to cold;IEA|GO:0009437;carnitine metabolic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019254;carnitine metabolic process, CoA-linked;IMP|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0042594;response to starvation;IEA|GO:0045329;carnitine biosynthetic process;IMP|GO:0051791;medium-chain fatty acid metabolic process;IDA|GO:0051793;medium-chain fatty acid catabolic process;IDA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055114;oxidation-reduction process;IDA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0016607;nuclear speck;IDA|GO:0030424;axon;IDA|GO:0070062;extracellular exosome;IDA	GO:0003995;acyl-CoA dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0042802;identical protein binding;IDA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0070991;medium-chain-acyl-CoA dehydrogenase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ACADM	https://www.uniprot.org/uniprot/P11310	https://hpo.jax.org/app/browse/search?q=ACADM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607008	http://www.informatics.jax.org/searchtool/Search.do?query=ACADM&submit=Quick%0D%4831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACADM	rs1146632	0.493011	0	0	1	0	0	upstream	upstream	UTR3	RABGGTB	RABGGTB	ENSG00000117054(ENST00000528016:c.*50T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	41;2|2	Hom;T>C	141;0|5
N	N	-	1	76252011	76252011	G	A	snp	intronic	 	 	 	 	RABGGTB	Rabggtb	ENSG00000137955	Rab geranylgeranyltransferase beta subunit	chr1:76251879-76260764	This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder	 	RAB geranylgeranylation	GO:0006464;cellular protein modification process;NAS|GO:0007601;visual perception;TAS|GO:0018344;protein geranylgeranylation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IBA	GO:0003824;catalytic activity;IEA|GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RABGGTB	https://www.uniprot.org/uniprot/P53611		https://www.ncbi.nlm.nih.gov/omim/?term=179080	http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTB&submit=Quick%0D%7638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTB	rs1146634	0.493011	0.6427	0.5230	1	0	0	intronic	intronic	intronic	RABGGTB	RABGGTB	ENSG00000117054,ENSG00000137955	Na	Na	Na	Na	Na	Na	Het;G>A	668;19|29	Hom;G>A	1322;0|48
N	N	-	1	76252687	76252687	T	C	snp	intronic	 	 	 	 	RABGGTB	Rabggtb	ENSG00000137955	Rab geranylgeranyltransferase beta subunit	chr1:76251879-76260764	This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder	 	RAB geranylgeranylation	GO:0006464;cellular protein modification process;NAS|GO:0007601;visual perception;TAS|GO:0018344;protein geranylgeranylation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IBA	GO:0003824;catalytic activity;IEA|GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RABGGTB	https://www.uniprot.org/uniprot/P53611		https://www.ncbi.nlm.nih.gov/omim/?term=179080	http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTB&submit=Quick%0D%7638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTB	rs1146636	0.493211	0	0	1	0	0	intronic	intronic	intronic	RABGGTB	RABGGTB	ENSG00000117054,ENSG00000137955	Na	Na	Na	Na	Na	Na	Het;T>C	298;14|13	Hom;T>C	939;0|29
N	N	-	1	76253045	76253045	T	TA	indel	intronic	 	 	 	 	RABGGTB	Rabggtb	ENSG00000137955	Rab geranylgeranyltransferase beta subunit	chr1:76251879-76260764	This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder	 	RAB geranylgeranylation	GO:0006464;cellular protein modification process;NAS|GO:0007601;visual perception;TAS|GO:0018344;protein geranylgeranylation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IBA	GO:0003824;catalytic activity;IEA|GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RABGGTB	https://www.uniprot.org/uniprot/P53611		https://www.ncbi.nlm.nih.gov/omim/?term=179080	http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTB&submit=Quick%0D%7638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTB	rs3831900	0.209465	0	0	1	0	0	intronic	intronic	intronic	RABGGTB	RABGGTB	ENSG00000117054,ENSG00000137955	Na	Na	Na	Na	Na	Na	Het;+A	95;2|4	Hom;+A	150;0|5
N	N	-	1	76255613	76255613	A	G	snp	intronic	 	 	 	 	RABGGTB	Rabggtb	ENSG00000137955	Rab geranylgeranyltransferase beta subunit	chr1:76251879-76260764	This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder	 	RAB geranylgeranylation	GO:0006464;cellular protein modification process;NAS|GO:0007601;visual perception;TAS|GO:0018344;protein geranylgeranylation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IBA	GO:0003824;catalytic activity;IEA|GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RABGGTB	https://www.uniprot.org/uniprot/P53611		https://www.ncbi.nlm.nih.gov/omim/?term=179080	http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTB&submit=Quick%0D%7638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTB	rs11588643	0.209465	0.2916	0.2613	1	0	0	intronic	intronic	intronic	RABGGTB	RABGGTB	ENSG00000137955	Na	Na	Na	Na	Na	Na	Het;A>G	542;23|21	Hom;A>G	1309;0|44
N	N	-	1	76256040	76256042	TAA	T	indel	intronic	 	 	 	 	RABGGTB	Rabggtb	ENSG00000137955	Rab geranylgeranyltransferase beta subunit	chr1:76251879-76260764	This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder	 	RAB geranylgeranylation	GO:0006464;cellular protein modification process;NAS|GO:0007601;visual perception;TAS|GO:0018344;protein geranylgeranylation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IBA	GO:0003824;catalytic activity;IEA|GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RABGGTB	https://www.uniprot.org/uniprot/P53611		https://www.ncbi.nlm.nih.gov/omim/?term=179080	http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTB&submit=Quick%0D%7638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTB	rs398053124	0.490016	0	0	1	0	0	intronic	intronic	intronic	RABGGTB	RABGGTB	ENSG00000137955	Na	Na	Na	Na	Na	Na	Het;-AA	410;20|16	Hom;-AA	1281;1|38
N	N	-	1	762589	762589	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00115																		rs3115848	0.751597	0	0.7773	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC00115	LINC00115(uc010nxx.2:c.-18C>G)	ENSG00000225880	Na	Na	Na	Na	Na	Na	Het;G>C	4354;61|109	Hom;G>C	6520;2|148
N	N	-	1	762592	762592	C	G	snp	ncRNA_exonic	 	 	 	 	LINC00115																		rs3131950	0.751597	0	0.7761	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC00115	LINC00115(uc010nxx.2:c.-21G>C)	ENSG00000225880	Na	Na	Na	Na	Na	Na	Het;C>G	4396;61|109	Hom;C>G	6485;2|146
N	N	-	1	762601	762601	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00115																		rs3131949	0.751597	0	0.7756	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC00115	LINC00115(uc010nxx.2:c.-30A>G)	ENSG00000225880	Na	Na	Na	Na	Na	Na	Het;T>C	4435;60|113	Hom;T>C	6441;1|143
N	N	-	1	762632	762632	T	A	snp	ncRNA_exonic	 	 	 	 	LINC00115																		rs3131948	0.751997	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC00115	LINC00115(uc010nxx.2:c.-61A>T)	ENSG00000225880	Na	Na	Na	Na	Na	Na	Het;T>A	2491;53|107	Hom;T>A	4360;0|158
N	N	-	1	76269372	76269372	T	C	snp	intronic	 	 	 	 	MSH4	Msh4	ENSG00000057468	mutS homolog 4	chr1:76262567-76378923	This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]	Ovarian Failure, Premature; Chronic renal failure|Kidney Failure, Chronic; Azoospermia|Oligospermia; epithelial ovarian cancer 	Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.	Meiotic recombination	GO:0001541;ovarian follicle development;IEA|GO:0006298;mismatch repair;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007283;spermatogenesis;IEA|GO:0007292;female gamete generation;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0005634;nucleus;TAS|GO:0005713;recombination nodule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0030983;mismatched DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MSH4	https://www.uniprot.org/uniprot/O15457		https://www.ncbi.nlm.nih.gov/omim/?term=602105	http://www.informatics.jax.org/searchtool/Search.do?query=MSH4&submit=Quick%0D%1019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH4	rs5745323	0.383387	0.5379	0.4859	1	0	0	intronic	intronic	intronic	MSH4	MSH4	ENSG00000057468	Na	Na	Na	Na	Na	Na	Het;T>C	436;7|18	Hom;T>C	480;0|15
N	N	-	1	76269460	76269460	G	A	snp	nonsynonymous SNV	G289A	A97T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MSH4	Msh4	ENSG00000057468	mutS homolog 4	chr1:76262567-76378923	This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]	Ovarian Failure, Premature; Chronic renal failure|Kidney Failure, Chronic; Azoospermia|Oligospermia; epithelial ovarian cancer 	Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.	Meiotic recombination	GO:0001541;ovarian follicle development;IEA|GO:0006298;mismatch repair;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007283;spermatogenesis;IEA|GO:0007292;female gamete generation;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0005634;nucleus;TAS|GO:0005713;recombination nodule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0030983;mismatched DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MSH4	https://www.uniprot.org/uniprot/O15457		https://www.ncbi.nlm.nih.gov/omim/?term=602105	http://www.informatics.jax.org/searchtool/Search.do?query=MSH4&submit=Quick%0D%1019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH4	rs5745325	0.212859	0.2996	0.2634	0.15	2	13	exonic	exonic	exonic	MSH4	MSH4	ENSG00000057468	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MSH4:NM_002440:exon2:c.G289A:p.A97T,	MSH4:uc001dhd.2:exon2:c.G289A:p.A97T,	ENSG00000057468:ENST00000263187:exon2:c.G289A:p.A97T,	Het;G>A	1065;36|48	Hom;G>A	2694;0|97
N	N	-	1	76349534	76349534	C	G	snp	intronic	 	 	 	 	MSH4	Msh4	ENSG00000057468	mutS homolog 4	chr1:76262567-76378923	This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]	Ovarian Failure, Premature; Chronic renal failure|Kidney Failure, Chronic; Azoospermia|Oligospermia; epithelial ovarian cancer 	Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.	Meiotic recombination	GO:0001541;ovarian follicle development;IEA|GO:0006298;mismatch repair;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007283;spermatogenesis;IEA|GO:0007292;female gamete generation;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0005634;nucleus;TAS|GO:0005713;recombination nodule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0030983;mismatched DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MSH4	https://www.uniprot.org/uniprot/O15457		https://www.ncbi.nlm.nih.gov/omim/?term=602105	http://www.informatics.jax.org/searchtool/Search.do?query=MSH4&submit=Quick%0D%1019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH4	rs5745485	0.222843	0.3109	0.2681	1	0	0	intronic	intronic	intronic	MSH4	MSH4	ENSG00000057468	Na	Na	Na	Na	Na	Na	Het;C>G	594;41|27	Hom;C>G	2161;0|73
N	N	-	1	76363505	76363505	A	C	snp	intronic	 	 	 	 	MSH4	Msh4	ENSG00000057468	mutS homolog 4	chr1:76262567-76378923	This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]	Ovarian Failure, Premature; Chronic renal failure|Kidney Failure, Chronic; Azoospermia|Oligospermia; epithelial ovarian cancer 	Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.	Meiotic recombination	GO:0001541;ovarian follicle development;IEA|GO:0006298;mismatch repair;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007283;spermatogenesis;IEA|GO:0007292;female gamete generation;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0005634;nucleus;TAS|GO:0005713;recombination nodule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0030983;mismatched DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MSH4	https://www.uniprot.org/uniprot/O15457		https://www.ncbi.nlm.nih.gov/omim/?term=602105	http://www.informatics.jax.org/searchtool/Search.do?query=MSH4&submit=Quick%0D%1019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH4	rs2029680	0.205471	0	0	1	0	0	intronic	intronic	intronic	MSH4	MSH4	ENSG00000057468	Na	Na	Na	Na	Na	Na	Het;A>C	109;4|5	Hom;A>C	231;0|8
N	N	-	1	76378275	76378275	G	C	snp	intronic	 	 	 	 	MSH4	Msh4	ENSG00000057468	mutS homolog 4	chr1:76262567-76378923	This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]	Ovarian Failure, Premature; Chronic renal failure|Kidney Failure, Chronic; Azoospermia|Oligospermia; epithelial ovarian cancer 	Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.	Meiotic recombination	GO:0001541;ovarian follicle development;IEA|GO:0006298;mismatch repair;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007283;spermatogenesis;IEA|GO:0007292;female gamete generation;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0005634;nucleus;TAS|GO:0005713;recombination nodule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0030983;mismatched DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MSH4	https://www.uniprot.org/uniprot/O15457		https://www.ncbi.nlm.nih.gov/omim/?term=602105	http://www.informatics.jax.org/searchtool/Search.do?query=MSH4&submit=Quick%0D%1019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH4	rs5745547	0.221046	0	0	1	0	0	intronic	intronic	intronic	MSH4	MSH4	ENSG00000057468	Na	Na	Na	Na	Na	Na	Het;G>C	39;2|2	Hom;G>C	131;0|4
N	N	-	1	77042405	77042405	G	A	snp	intronic	 	 	 	 	ST6GALNAC3	St6galnac3	ENSG00000184005	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	chr1:76540404-77100286	ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]	Alcoholism; Tobacco Use Disorder	 	Termination of O-glycan biosynthesis	GO:0006486;protein glycosylation;IEA|GO:0006677;glycosylceramide metabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;IDA|GO:0009100;glycoprotein metabolic process;IDA|GO:0009311;oligosaccharide metabolic process;IBA|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001665;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST6GALNAC3			https://www.ncbi.nlm.nih.gov/omim/?term=610133	http://www.informatics.jax.org/searchtool/Search.do?query=ST6GALNAC3&submit=Quick%0D%15119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST6GALNAC3	rs315029	0.300719	0	0	1	0	0	intronic	intronic	intronic	ST6GALNAC3	ST6GALNAC3	ENSG00000184005	Na	Na	Na	Na	Na	Na	Het;G>A	123;3|5	Hom;G>A	740;0|23
N	N	-	1	77558057	77558057	G	C	snp	UTR3	*2C>G	 	 	 	PIGK	Pigk	ENSG00000142892	phosphatidylinositol glycan anchor biosynthesis class K	chr1:77554675-77685115	This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 	Attachment of GPI anchor to uPAR	GO:0006506;GPI anchor biosynthetic process;IEA|GO:0006508;proteolysis;IEA|GO:0016255;attachment of GPI anchor to protein;TAS|GO:0034394;protein localization to cell surface;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;NAS|GO:0042765;GPI-anchor transamidase complex;IMP	GO:0003756;protein disulfide isomerase activity;TAS|GO:0003923;GPI-anchor transamidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034235;GPI anchor binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIGK	https://www.uniprot.org/uniprot/Q92643		https://www.ncbi.nlm.nih.gov/omim/?term=605087	http://www.informatics.jax.org/searchtool/Search.do?query=PIGK&submit=Quick%0D%8342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGK	rs1048575	0.357628	0.2982	0.2936	1	0	0	UTR3	UTR3	UTR3	PIGK(NM_005482:c.*2C>G)	PIGK(uc001dhk.3:c.*2C>G,uc010orj.2:c.*2C>G,uc009wbx.3:c.*2C>G)	ENSG00000142892(ENST00000445065:c.*2C>G,ENST00000370812:c.*2C>G,ENST00000370813:c.*2C>G,ENST00000487906:c.*679C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	370;30|20	Hom;G>C	1156;0|41
N	N	-	1	777122	777122	A	T	snp	ncRNA_exonic	 	 	 	 	LINC01128																		rs2980319	0.747204	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01128	LOC643837	ENSG00000228794	Na	Na	Na	Na	Na	Na	Het;A>T	1496;67|68	Hom;A>T	3471;0|122
N	N	-	1	78355040	78355041	CT	C	indel	ncRNA_intronic	 	 	 	 	NEXN-AS1																		rs35488678	0.86262	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NEXN-AS1	NEXN	ENSG00000235927	Na	Na	Na	Na	Na	Na	Het;-T	41;1|6	Hom;-T	68;1|5
N	N	-	1	787262	787262	C	G	snp	ncRNA_exonic	 	 	 	 	LINC01128																		rs2905056	0.752796	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC01128	LOC643837	ENSG00000228794	Na	Na	Na	Na	Na	Na	Het;C>G	252;6|9	Hom;C>G	973;0|30
N	N	-	1	787399	787399	G	T	snp	ncRNA_exonic	 	 	 	 	LINC01128																		rs2905055	0.646366	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01128	LOC643837	ENSG00000228794	Na	Na	Na	Na	Na	Na	Het;G>T	1207;62|61	Hom;G>T	3970;0|148
N	N	-	1	78762998	78762998	A	G	snp	ncRNA_intronic	 	 	 	 	MGC27382																		rs2882802	0.707668	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	MGC27382	MGC27382	ENSG00000237413	Na	Na	Na	Na	Na	Na	Het;A>G	85;7|5	Hom;A>G	306;0|9
N	N	-	1	78834258	78834258	T	C	snp	ncRNA_exonic	 	 	 	 	MGC27382																		rs6424768	0.94389	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MGC27382	MGC27382	ENSG00000237413	Na	Na	Na	Na	Na	Na	Het;T>C	191;12|11	Hom;T>C	603;0|23
N	N	-	1	790758	790760	GTA	G	indel	ncRNA_exonic	 	 	 	 	LINC01128																		rs3039191	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01128	LOC643837	ENSG00000228794	Na	Na	Na	Na	Na	Na	Het;-TA	1898;62|51	Hom;-TA	4493;0|102
N	N	-	1	79128320	79128320	A	G	snp	intronic	 	 	 	 	IFI44	Ifi44	ENSG00000137965	interferon induced protein 44	chr1:79115481-79129763		Respiratory Syncytial Virus Infections; hepatitis C, chronic	 		GO:0009615;response to virus;TAS	GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFI44	https://www.uniprot.org/uniprot/Q8TCB0		https://www.ncbi.nlm.nih.gov/omim/?term=610468	http://www.informatics.jax.org/searchtool/Search.do?query=IFI44&submit=Quick%0D%7642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI44	rs11577395	0.441494	0	0	1	0	0	intronic	intronic	intronic	IFI44	IFI44	ENSG00000137965	Na	Na	Na	Na	Na	Na	Het;A>G	87;5|4	Hom;A>G	336;0|11
N	N	-	1	79128570	79128570	G	GT	indel	unknown	 	 	 	 	IFI44	Ifi44	ENSG00000137965	interferon induced protein 44	chr1:79115481-79129763		Respiratory Syncytial Virus Infections; hepatitis C, chronic	 		GO:0009615;response to virus;TAS	GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFI44	https://www.uniprot.org/uniprot/Q8TCB0		https://www.ncbi.nlm.nih.gov/omim/?term=610468	http://www.informatics.jax.org/searchtool/Search.do?query=IFI44&submit=Quick%0D%7642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI44	rs368139253	0.429113	0.4509	0.4093	1	0	0	intronic	intronic	exonic	IFI44	IFI44	ENSG00000137965	Na	Na	unknown	Na	Na	UNKNOWN	Het;+T	1082;13|31	Hom;+T	1739;0|45
N	N	-	1	792263	792263	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01128																		rs1044922	0.785942	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01128	LOC643837	ENSG00000228794	Na	Na	Na	Na	Na	Na	Het;A>G	1022;61|48	Hom;A>G	2889;0|104
N	N	-	1	793429	793429	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01128																		rs2519067	0.420727	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01128	LOC643837	ENSG00000228794	Na	Na	Na	Na	Na	Na	Het;T>C	1091;50|50	Hom;T>C	2602;5|101
N	N	-	1	808928	808928	C	T	snp	ncRNA_exonic	 	 	 	 	TUBB8P11																		rs11240780	0.452276	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	FAM41C	FAM41C	ENSG00000234711	Na	Na	Na	Na	Na	Na	Het;C>T	1065;63|51	Hom;C>T	4372;0|99
N	N	-	1	81212467	81212467	G	T	snp	intergenic	 	 	 	 	LINC01781																		rs6692988	0.770367	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927412(dist=99994),LOC101927434(dist=767098)	ELTD1(dist=1739972),LPHN2(dist=559378)	ENSG00000234184(dist=99994),ENSG00000227937(dist=334008)	Na	Na	Na	Na	Na	Na	Het;G>T	158;13|9	Hom;G>T	420;0|17
N	N	-	1	81262524	81262524	G	A	snp	intergenic	 	 	 	 	LINC01781																		rs4650485	0.670527	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927412(dist=150051),LOC101927434(dist=717041)	ELTD1(dist=1790029),LPHN2(dist=509321)	ENSG00000234184(dist=150051),ENSG00000227937(dist=283951)	Na	Na	Na	Na	Na	Na	Het;G>A	1136;84|60	Hom;G>A	5387;2|197
N	N	-	1	81262642	81262642	C	G	snp	intergenic	 	 	 	 	LINC01781																		rs2209199	0.672724	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927412(dist=150169),LOC101927434(dist=716923)	ELTD1(dist=1790147),LPHN2(dist=509203)	ENSG00000234184(dist=150169),ENSG00000227937(dist=283833)	Na	Na	Na	Na	Na	Na	Het;C>G	108;4|4	Hom;C>G	550;0|14
N	N	-	1	81411595	81411595	T	TAA	indel	intergenic	 	 	 	 	LINC01781																		rs112408740	0.577476	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927412(dist=299122),LOC101927434(dist=567970)	ELTD1(dist=1939100),LPHN2(dist=360250)	ENSG00000234184(dist=299122),ENSG00000227937(dist=134880)	Na	Na	Na	Na	Na	Na	Het;+AA	308;9|7	Hom;+AA	267;0|7
N	N	-	1	81411604	81411604	T	A	snp	intergenic	 	 	 	 	LINC01781																		rs74995471	0.609625	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927412(dist=299131),LOC101927434(dist=567961)	ELTD1(dist=1939109),LPHN2(dist=360241)	ENSG00000234184(dist=299131),ENSG00000227937(dist=134871)	Na	Na	Na	Na	Na	Na	Het;T>A	446;9|15	Hom;T>A	324;0|9
N	N	-	1	82173326	82173329	ATGT	A	indel	intronic	 	 	 	 	ADGRL2	Adgrl2																	rs371902493	0.201877	0	0	1	0	0	intronic	intronic	intronic	ADGRL2	LPHN2	ENSG00000117114	Na	Na	Na	Na	Na	Na	Het;-TGT	368;13|11	Hom;-TGT	1448;0|33
N	N	-	1	82173334	82173334	G	A	snp	intronic	 	 	 	 	ADGRL2	Adgrl2																	rs5002076	0.295727	0	0	1	0	0	intronic	intronic	intronic	ADGRL2	LPHN2	ENSG00000117114	Na	Na	Na	Na	Na	Na	Het;G>A	377;14|12	Hom;G>A	1566;0|38
N	N	-	1	8421092	8421092	C	T	snp	synonymous SNV	G813A	P271P	hydrophobic,neutral	hydrophobic,neutral	RERE	Rere	ENSG00000142599	arginine-glutamic acid dipeptide repeats	chr1:8412457-8877702	This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Osteoporosis; Tobacco Use Disorder; Vitiligo; Schizophrenia; Optic Disk; Autoimmune Diseases|melanoma|Vitiligo	Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0007275;multicellular organism development;IEA|GO:0021549;cerebellum development;IEA|GO:0021691;cerebellar Purkinje cell layer maturation;IEA|GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0021942;radial glia guided migration of Purkinje cell;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048755;branching morphogenesis of a nerve;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;TAS	GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0001106;RNA polymerase II transcription corepressor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008267;poly-glutamine tract binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RERE	https://www.uniprot.org/uniprot/Q9P2R6	https://hpo.jax.org/app/browse/search?q=RERE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605226	http://www.informatics.jax.org/searchtool/Search.do?query=RERE&submit=Quick%0D%8305ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RERE	rs2784735	0.457867	0.3275	0.5310	1	0	0	exonic	exonic	exonic	RERE	RERE	ENSG00000142599	synonymous SNV	synonymous SNV	synonymous SNV	RERE:NM_001042681:exon18:c.G2475A:p.P825P,RERE:NM_001042682:exon8:c.G813A:p.P271P,RERE:NM_012102:exon19:c.G2475A:p.P825P,	RERE:uc001apd.3:exon8:c.G813A:p.P271P,RERE:uc001ape.3:exon19:c.G2475A:p.P825P,RERE:uc010nzx.1:exon12:c.G1671A:p.P557P,RERE:uc001apf.3:exon18:c.G2475A:p.P825P,	ENSG00000142599:ENST00000476556:exon8:c.G813A:p.P271P,ENSG00000142599:ENST00000377464:exon12:c.G1671A:p.P557P,ENSG00000142599:ENST00000400908:exon18:c.G2475A:p.P825P,ENSG00000142599:ENST00000337907:exon19:c.G2475A:p.P825P,	Het;C>T	1136;62|61	Hom;C>T	2147;0|82
N	N	-	1	8421203	8421203	T	C	snp	synonymous SNV	A702G	P234P	hydrophobic,neutral	hydrophobic,neutral	RERE	Rere	ENSG00000142599	arginine-glutamic acid dipeptide repeats	chr1:8412457-8877702	This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Osteoporosis; Tobacco Use Disorder; Vitiligo; Schizophrenia; Optic Disk; Autoimmune Diseases|melanoma|Vitiligo	Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0007275;multicellular organism development;IEA|GO:0021549;cerebellum development;IEA|GO:0021691;cerebellar Purkinje cell layer maturation;IEA|GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0021942;radial glia guided migration of Purkinje cell;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048755;branching morphogenesis of a nerve;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;TAS	GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0001106;RNA polymerase II transcription corepressor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008267;poly-glutamine tract binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RERE	https://www.uniprot.org/uniprot/Q9P2R6	https://hpo.jax.org/app/browse/search?q=RERE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605226	http://www.informatics.jax.org/searchtool/Search.do?query=RERE&submit=Quick%0D%8305ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RERE	rs13596	0.79992	0.7292	0.7516	1	0	0	exonic	exonic	exonic	RERE	RERE	ENSG00000142599	synonymous SNV	synonymous SNV	synonymous SNV	RERE:NM_001042681:exon18:c.A2364G:p.P788P,RERE:NM_001042682:exon8:c.A702G:p.P234P,RERE:NM_012102:exon19:c.A2364G:p.P788P,	RERE:uc001apd.3:exon8:c.A702G:p.P234P,RERE:uc001ape.3:exon19:c.A2364G:p.P788P,RERE:uc010nzx.1:exon12:c.A1560G:p.P520P,RERE:uc001apf.3:exon18:c.A2364G:p.P788P,	ENSG00000142599:ENST00000476556:exon8:c.A702G:p.P234P,ENSG00000142599:ENST00000377464:exon12:c.A1560G:p.P520P,ENSG00000142599:ENST00000400908:exon18:c.A2364G:p.P788P,ENSG00000142599:ENST00000337907:exon19:c.A2364G:p.P788P,	Het;T>C	1584;79|67	Hom;T>C	3184;1|115
N	N	-	1	8422676	8422676	T	C	snp	intronic	 	 	 	 	RERE	Rere	ENSG00000142599	arginine-glutamic acid dipeptide repeats	chr1:8412457-8877702	This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Osteoporosis; Tobacco Use Disorder; Vitiligo; Schizophrenia; Optic Disk; Autoimmune Diseases|melanoma|Vitiligo	Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0007275;multicellular organism development;IEA|GO:0021549;cerebellum development;IEA|GO:0021691;cerebellar Purkinje cell layer maturation;IEA|GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0021942;radial glia guided migration of Purkinje cell;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048755;branching morphogenesis of a nerve;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;TAS	GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0001106;RNA polymerase II transcription corepressor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008267;poly-glutamine tract binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RERE	https://www.uniprot.org/uniprot/Q9P2R6	https://hpo.jax.org/app/browse/search?q=RERE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605226	http://www.informatics.jax.org/searchtool/Search.do?query=RERE&submit=Quick%0D%8305ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RERE	rs2252865	0.798123	0	0	1	0	0	intronic	intronic	intronic	RERE	RERE	ENSG00000142599	Na	Na	Na	Na	Na	Na	Het;T>C	158;16|8	Hom;T>C	554;0|16
N	N	-	1	844300	844300	C	G	snp	ncRNA_intronic	 	 	 	 	AL645608.7																		rs61769713	0.817292	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FAM41C(dist=32118),LOC100130417(dist=7898)	FAM41C(dist=32118),AK056486(dist=2515)	ENSG00000272438	Na	Na	Na	Na	Na	Na	Het;C>G	44;4|2	Hom;C>G	132;0|4
N	N	-	1	84963000	84963000	A	G	snp	intronic	 	 	 	 	RPF1	Rpf1	ENSG00000117133	ribosome production factor 1 homolog	chr1:84944942-84963473			 		GO:0000027;ribosomal large subunit assembly;IBA|GO:0000460;maturation of 5.8S rRNA;IBA|GO:0000470;maturation of LSU-rRNA;IBA|GO:0006364;rRNA processing;IEA|GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0030687;preribosome, large subunit precursor;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA|GO:0042134;rRNA primary transcript binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RPF1	https://www.uniprot.org/uniprot/Q9H9Y2			http://www.informatics.jax.org/searchtool/Search.do?query=RPF1&submit=Quick%0D%4839ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPF1	rs1246159	0.466853	0	0	1	0	0	intronic	intronic	intronic	RPF1	RPF1	ENSG00000117133	Na	Na	Na	Na	Na	Na	Het;A>G	32;2|2	Hom;A>G	396;0|14
N	N	-	1	84991488	84991488	T	G	snp	ncRNA_intronic	 	 	 	 	SPATA1	Spata1	ENSG00000122432	spermatogenesis associated 1	chr1:84971974-85031877		Chronic renal failure|Kidney Failure, Chronic	 					http://www.genecards.org/index.php?path=/Search/keyword/SPATA1	https://www.uniprot.org/uniprot/A0A1W2PQB0			http://www.informatics.jax.org/searchtool/Search.do?query=SPATA1&submit=Quick%0D%5411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA1	rs2292808	0.21885	0.1722	0.2005	1	0	0	intergenic	intronic	ncRNA_intronic	GNG5(dist=19226),CTBS(dist=27316)	SPATA1	ENSG00000122432	Na	Na	Na	Na	Na	Na	Het;T>G	1754;85|79	Hom;T>G	3967;2|138
N	N	-	1	84998445	84998445	C	G	snp	ncRNA_intronic	 	 	 	 	SPATA1	Spata1	ENSG00000122432	spermatogenesis associated 1	chr1:84971974-85031877		Chronic renal failure|Kidney Failure, Chronic	 					http://www.genecards.org/index.php?path=/Search/keyword/SPATA1	https://www.uniprot.org/uniprot/A0A1W2PQB0			http://www.informatics.jax.org/searchtool/Search.do?query=SPATA1&submit=Quick%0D%5411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA1	rs6690204	0.370407	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	GNG5(dist=26183),CTBS(dist=20359)	SPATA1	ENSG00000122432	Na	Na	Na	Na	Na	Na	Het;C>G	201;6|9	Hom;C>G	631;0|19
N	N	-	1	84999227	84999227	G	C	snp	ncRNA_intronic	 	 	 	 	SPATA1	Spata1	ENSG00000122432	spermatogenesis associated 1	chr1:84971974-85031877		Chronic renal failure|Kidney Failure, Chronic	 					http://www.genecards.org/index.php?path=/Search/keyword/SPATA1	https://www.uniprot.org/uniprot/A0A1W2PQB0			http://www.informatics.jax.org/searchtool/Search.do?query=SPATA1&submit=Quick%0D%5411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA1	rs11164000	0.162141	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	GNG5(dist=26965),CTBS(dist=19577)	SPATA1	ENSG00000122432	Na	Na	Na	Na	Na	Na	Het;G>C	85;1|3	Hom;G>C	138;0|4
N	N	-	1	84999571	84999571	T	C	snp	ncRNA_intronic	 	 	 	 	SPATA1	Spata1	ENSG00000122432	spermatogenesis associated 1	chr1:84971974-85031877		Chronic renal failure|Kidney Failure, Chronic	 					http://www.genecards.org/index.php?path=/Search/keyword/SPATA1	https://www.uniprot.org/uniprot/A0A1W2PQB0			http://www.informatics.jax.org/searchtool/Search.do?query=SPATA1&submit=Quick%0D%5411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA1	rs10874451	0.370807	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	GNG5(dist=27309),CTBS(dist=19233)	SPATA1	ENSG00000122432	Na	Na	Na	Na	Na	Na	Het;T>C	80;3|3	Hom;T>C	295;0|9
N	N	-	1	85009894	85009894	A	G	snp	nonsynonymous SNV	A793G	K265E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	SPATA1	Spata1	ENSG00000122432	spermatogenesis associated 1	chr1:84971974-85031877		Chronic renal failure|Kidney Failure, Chronic	 					http://www.genecards.org/index.php?path=/Search/keyword/SPATA1	https://www.uniprot.org/uniprot/A0A1W2PQB0			http://www.informatics.jax.org/searchtool/Search.do?query=SPATA1&submit=Quick%0D%5411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA1	rs12143652	0.235823	0.2319	0.3230	1	0	0	intergenic	exonic	ncRNA_exonic	GNG5(dist=37632),CTBS(dist=8910)	SPATA1	ENSG00000122432	Na	nonsynonymous SNV	Na	Na	SPATA1:uc021opb.1:exon9:c.A793G:p.K265E,	Na	Het;A>G	67;25|7	Hom;A>G	1036;0|39
N	N	-	1	85016177	85016177	A	G	snp	ncRNA_exonic	 	 	 	 	SPATA1	Spata1	ENSG00000122432	spermatogenesis associated 1	chr1:84971974-85031877		Chronic renal failure|Kidney Failure, Chronic	 					http://www.genecards.org/index.php?path=/Search/keyword/SPATA1	https://www.uniprot.org/uniprot/A0A1W2PQB0			http://www.informatics.jax.org/searchtool/Search.do?query=SPATA1&submit=Quick%0D%5411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA1	rs1400777	0.476238	0.4606	0.5023	1	0	0	intergenic	intergenic	ncRNA_exonic	GNG5(dist=43915),CTBS(dist=2627)	SPATA1(dist=1530),CTBS(dist=2627)	ENSG00000122432	Na	Na	Na	Na	Na	Na	Het;A>G	677;27|31	Hom;A>G	1407;0|55
N	N	-	1	85029077	85029077	C	T	snp	nonsynonymous SNV	G820A	V274I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CTBS	Ctbs	ENSG00000117151	chitobiase	chr1:85015289-85040163	Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]		Mice homozygous for a knock-out allele exhibit accumulation of oligosaccharides.		GO:0005975;carbohydrate metabolic process;IEA|GO:0006032;chitin catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IEA	GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;IEA|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTBS	https://www.uniprot.org/uniprot/Q01459		https://www.ncbi.nlm.nih.gov/omim/?term=600873	http://www.informatics.jax.org/searchtool/Search.do?query=CTBS&submit=Quick%0D%4843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBS	rs15911	0.148163	0.1872	0.1973	0.38	5	13	exonic	exonic	exonic	CTBS	CTBS	ENSG00000117151	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CTBS:NM_004388:exon6:c.G820A:p.V274I,	CTBS:uc001dka.2:exon6:c.G820A:p.V274I,CTBS:uc001dkc.3:exon6:c.G547A:p.V183I,CTBS:uc001dkb.2:exon5:c.G202A:p.V68I,	ENSG00000117151:ENST00000370630:exon6:c.G820A:p.V274I,	Het;C>T	991;60|47	Hom;C>T	2497;0|94
N	N	-	1	85031630	85031630	G	A	snp	synonymous SNV	C591T	I197I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CTBS	Ctbs	ENSG00000117151	chitobiase	chr1:85015289-85040163	Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]		Mice homozygous for a knock-out allele exhibit accumulation of oligosaccharides.		GO:0005975;carbohydrate metabolic process;IEA|GO:0006032;chitin catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IEA	GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;IEA|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTBS	https://www.uniprot.org/uniprot/Q01459		https://www.ncbi.nlm.nih.gov/omim/?term=600873	http://www.informatics.jax.org/searchtool/Search.do?query=CTBS&submit=Quick%0D%4843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBS	rs2994953	0.296725	0.2820	0.2713	1	0	0	exonic	exonic	exonic	CTBS	CTBS	ENSG00000117151	synonymous SNV	synonymous SNV	synonymous SNV	CTBS:NM_004388:exon4:c.C591T:p.I197I,	CTBS:uc001dka.2:exon4:c.C591T:p.I197I,CTBS:uc001dkc.3:exon4:c.C318T:p.I106I,	ENSG00000117151:ENST00000370630:exon4:c.C591T:p.I197I,	Het;G>A	1213;63|55	Hom;G>A	4736;0|176
N	N	-	1	85036239	85036239	C	G	snp	intronic	 	 	 	 	CTBS	Ctbs	ENSG00000117151	chitobiase	chr1:85015289-85040163	Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]		Mice homozygous for a knock-out allele exhibit accumulation of oligosaccharides.		GO:0005975;carbohydrate metabolic process;IEA|GO:0006032;chitin catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IEA	GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;IEA|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTBS	https://www.uniprot.org/uniprot/Q01459		https://www.ncbi.nlm.nih.gov/omim/?term=600873	http://www.informatics.jax.org/searchtool/Search.do?query=CTBS&submit=Quick%0D%4843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBS	rs2303306	0.440495	0.4211	0.3371	1	0	0	intronic	intronic	intronic	CTBS	CTBS	ENSG00000117151	Na	Na	Na	Na	Na	Na	Het;C>G	458;65|26	Hom;C>G	2217;0|77
N	N	-	1	85094275	85094277	ATG	A	indel	ncRNA_exonic	 	 	 	 	LINC01555																		rs10531253	0	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LINC01555	C1orf180(uc010ory.1:c.*2022_*2020delinsT,uc001dke.2:c.*2022_*2020delinsT)	ENSG00000180869(ENST00000327308:c.*2022_*2020delinsT,ENST00000370624:c.*2022_*2020delinsT)	Na	Na	Na	Na	Na	Na	Het;-TG	537;23|22	Hom;-TG	1586;1|45
N	N	-	1	852133	852133	C	T	snp	downstream	 	 	 	 	AL645608.1																		rs7518702	0.728834	0	0	1	0	0	downstream	downstream	downstream	LOC100130417	LOC100130417	ENSG00000223764,ENSG00000272438	Na	Na	Na	Na	Na	Na	Het;C>T	421;7|16	Hom;C>T	643;0|21
N	N	-	1	852964	852964	T	G	snp	ncRNA_exonic	 	 	 	 	LOC100130417																		rs4970461	0.752396	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100130417	LOC100130417	ENSG00000223764	Na	Na	Na	Na	Na	Na	Het;T>G	1309;100|68	Hom;T>G	3352;2|128
N	N	-	1	85418307	85418307	C	G	snp	intronic	 	 	 	 	MCOLN2	Mcoln2	ENSG00000153898	mucolipin 2	chr1:85391268-85462796	Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced chemokine production in bone marrow-derived macrophages and impaired recruitment of peripheral macrophages in response to i.p. injections of LPS or live bacteria.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MCOLN2	https://www.uniprot.org/uniprot/Q8IZK6		https://www.ncbi.nlm.nih.gov/omim/?term=607399	http://www.informatics.jax.org/searchtool/Search.do?query=MCOLN2&submit=Quick%0D%9698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCOLN2	rs677476	0.570487	0	0	1	0	0	intronic	intronic	intronic	MCOLN2	MCOLN2	ENSG00000153898	Na	Na	Na	Na	Na	Na	Het;C>G	274;8|10	Hom;C>G	661;0|19
N	N	-	1	85422061	85422061	C	T	snp	intronic	 	 	 	 	MCOLN2	Mcoln2	ENSG00000153898	mucolipin 2	chr1:85391268-85462796	Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced chemokine production in bone marrow-derived macrophages and impaired recruitment of peripheral macrophages in response to i.p. injections of LPS or live bacteria.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MCOLN2	https://www.uniprot.org/uniprot/Q8IZK6		https://www.ncbi.nlm.nih.gov/omim/?term=607399	http://www.informatics.jax.org/searchtool/Search.do?query=MCOLN2&submit=Quick%0D%9698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCOLN2	rs632545	0.553115	0	0	1	0	0	intronic	intronic	intronic	MCOLN2	MCOLN2	ENSG00000153898	Na	Na	Na	Na	Na	Na	Het;C>T	440;36|21	Hom;C>T	1318;0|44
N	N	-	1	85462582	85462582	C	G	snp	UTR5	-27G>C	 	 	 	MCOLN2	Mcoln2	ENSG00000153898	mucolipin 2	chr1:85391268-85462796	Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced chemokine production in bone marrow-derived macrophages and impaired recruitment of peripheral macrophages in response to i.p. injections of LPS or live bacteria.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MCOLN2	https://www.uniprot.org/uniprot/Q8IZK6		https://www.ncbi.nlm.nih.gov/omim/?term=607399	http://www.informatics.jax.org/searchtool/Search.do?query=MCOLN2&submit=Quick%0D%9698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCOLN2	rs11161503	0.452077	0.4201	0.4714	1	0	0	UTR5	UTR5	UTR5	MCOLN2(NM_153259:c.-27G>C)	MCOLN2(uc001dkm.3:c.-27G>C)	ENSG00000153898(ENST00000370608:c.-27G>C,ENST00000463065:c.-27G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	598;35|28	Hom;C>G	1555;0|54
N	N	-	1	85462652	85462652	G	T	snp	UTR5	-97C>A	 	 	 	MCOLN2	Mcoln2	ENSG00000153898	mucolipin 2	chr1:85391268-85462796	Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced chemokine production in bone marrow-derived macrophages and impaired recruitment of peripheral macrophages in response to i.p. injections of LPS or live bacteria.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MCOLN2	https://www.uniprot.org/uniprot/Q8IZK6		https://www.ncbi.nlm.nih.gov/omim/?term=607399	http://www.informatics.jax.org/searchtool/Search.do?query=MCOLN2&submit=Quick%0D%9698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCOLN2	rs11161504	0.451478	0	0	1	0	0	UTR5	UTR5	UTR5	MCOLN2(NM_153259:c.-97C>A)	MCOLN2(uc001dkm.3:c.-97C>A)	ENSG00000153898(ENST00000463065:c.-97C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	178;12|6	Hom;G>T	713;0|17
N	N	-	1	85462665	85462665	T	G	snp	UTR5	-110A>C	 	 	 	MCOLN2	Mcoln2	ENSG00000153898	mucolipin 2	chr1:85391268-85462796	Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]	Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit reduced chemokine production in bone marrow-derived macrophages and impaired recruitment of peripheral macrophages in response to i.p. injections of LPS or live bacteria.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MCOLN2	https://www.uniprot.org/uniprot/Q8IZK6		https://www.ncbi.nlm.nih.gov/omim/?term=607399	http://www.informatics.jax.org/searchtool/Search.do?query=MCOLN2&submit=Quick%0D%9698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCOLN2	rs11161505	0.451478	0	0	1	0	0	UTR5	UTR5	UTR5	MCOLN2(NM_153259:c.-110A>C)	MCOLN2(uc001dkm.3:c.-110A>C)	ENSG00000153898(ENST00000463065:c.-110A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	190;8|5	Hom;T>G	681;0|15
N	N	-	1	85560313	85560313	T	C	snp	intronic	 	 	 	 	WDR63	Wdr63	ENSG00000162643	WD repeat domain 63	chr1:85464830-85598821		Tobacco Use Disorder	Mice homozygous for a null allele exhibit no overt abnormalities in body size, development, behavior, or fertility.					http://www.genecards.org/index.php?path=/Search/keyword/WDR63				http://www.informatics.jax.org/searchtool/Search.do?query=WDR63&submit=Quick%0D%10760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR63	rs709765	0.571885	0	0	1	0	0	intronic	intronic	intronic	WDR63	WDR63	ENSG00000162643	Na	Na	Na	Na	Na	Na	Het;T>C	375;26|18	Hom;T>C	1240;0|42
N	N	-	1	85561546	85561546	T	C	snp	intronic	 	 	 	 	WDR63	Wdr63	ENSG00000162643	WD repeat domain 63	chr1:85464830-85598821		Tobacco Use Disorder	Mice homozygous for a null allele exhibit no overt abnormalities in body size, development, behavior, or fertility.					http://www.genecards.org/index.php?path=/Search/keyword/WDR63				http://www.informatics.jax.org/searchtool/Search.do?query=WDR63&submit=Quick%0D%10760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR63	rs709766	0.569888	0	0	1	0	0	intronic	intronic	intronic	WDR63	WDR63	ENSG00000162643	Na	Na	Na	Na	Na	Na	Het;T>C	134;9|7	Hom;T>C	866;0|27
N	N	-	1	85564138	85564138	A	G	snp	intronic	 	 	 	 	WDR63	Wdr63	ENSG00000162643	WD repeat domain 63	chr1:85464830-85598821		Tobacco Use Disorder	Mice homozygous for a null allele exhibit no overt abnormalities in body size, development, behavior, or fertility.					http://www.genecards.org/index.php?path=/Search/keyword/WDR63				http://www.informatics.jax.org/searchtool/Search.do?query=WDR63&submit=Quick%0D%10760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR63	rs817489	0.570487	0	0	1	0	0	intronic	intronic	intronic	WDR63	WDR63	ENSG00000162643	Na	Na	Na	Na	Na	Na	Het;A>G	278;10|12	Hom;A>G	200;0|8
N	N	-	1	85589939	85589940	GT	G	indel	intronic	 	 	 	 	WDR63	Wdr63	ENSG00000162643	WD repeat domain 63	chr1:85464830-85598821		Tobacco Use Disorder	Mice homozygous for a null allele exhibit no overt abnormalities in body size, development, behavior, or fertility.					http://www.genecards.org/index.php?path=/Search/keyword/WDR63				http://www.informatics.jax.org/searchtool/Search.do?query=WDR63&submit=Quick%0D%10760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR63	rs11356964	0.665335	0.6652	0.7125	1	0	0	intronic	intronic	intronic	WDR63	WDR63	ENSG00000162643	Na	Na	Na	Na	Na	Na	Het;-T	2028;56|65	Hom;-T	4182;0|113
N	N	-	1	85595645	85595645	C	T	snp	intronic	 	 	 	 	WDR63	Wdr63	ENSG00000162643	WD repeat domain 63	chr1:85464830-85598821		Tobacco Use Disorder	Mice homozygous for a null allele exhibit no overt abnormalities in body size, development, behavior, or fertility.					http://www.genecards.org/index.php?path=/Search/keyword/WDR63				http://www.informatics.jax.org/searchtool/Search.do?query=WDR63&submit=Quick%0D%10760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR63	rs1020770	0.598842	0.6120	0.6840	1	0	0	intronic	intronic	intronic	WDR63	WDR63	ENSG00000162643	Na	Na	Na	Na	Na	Na	Het;C>T	126;14|8	Hom;C>T	776;0|30
N	N	-	1	85743452	85743452	G	A	snp	ncRNA_exonic	 	 	 	 	LOC646626																		rs11555520	0.0896565	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LOC646626	LOC646626	ENSG00000223653	Na	Na	Na	Na	Na	Na	Het;G>A	1400;50|62	Hom;G>A	2986;1|112
N	N	-	1	86146672	86146672	G	A	snp	intronic	 	 	 	 	ZNHIT6	Znhit6	ENSG00000117174	zinc finger HIT-type containing 6	chr1:86115106-86174116		Tobacco Use Disorder	 		GO:0000492;box C/D snoRNP assembly;IMP|GO:0042254;ribosome biogenesis;IEA|GO:0048254;snoRNA localization;IMP|GO:0051259;protein oligomerization;IMP	GO:0070062;extracellular exosome;IDA|GO:0070761;pre-snoRNP complex;IDA	GO:0001094;TFIID-class transcription factor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZNHIT6	https://www.uniprot.org/uniprot/Q9NWK9			http://www.informatics.jax.org/searchtool/Search.do?query=ZNHIT6&submit=Quick%0D%4848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNHIT6	rs3767162	0.383586	0	0	1	0	0	intronic	intronic	intronic	ZNHIT6	ZNHIT6	ENSG00000117174	Na	Na	Na	Na	Na	Na	Het;G>A	131;10|7	Hom;G>A	479;0|16
N	N	-	1	86334316	86334316	T	C	snp	intronic	 	 	 	 	COL24A1	Col24a1	ENSG00000171502	collagen type XXIV alpha 1 chain	chr1:86194916-86622626		Cholesterol, LDL; Platelet Count; Hip; Osteoporosis; Tobacco Use Disorder; Forced Expiratory Volume; Type 2 Diabetes| edema | rosiglitazone	 	Collagen chain trimerization	GO:0002244;hematopoietic progenitor cell differentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL24A1			https://www.ncbi.nlm.nih.gov/omim/?term=610025	http://www.informatics.jax.org/searchtool/Search.do?query=COL24A1&submit=Quick%0D%12949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL24A1	rs17411495	0.465855	0.3969	0.4591	1	0	0	intronic	intronic	intronic	COL24A1	COL24A1	ENSG00000171502	Na	Na	Na	Na	Na	Na	Het;T>C	324;41|19	Hom;T>C	1887;0|67
N	N	-	1	86340892	86340892	A	G	snp	intronic	 	 	 	 	COL24A1	Col24a1	ENSG00000171502	collagen type XXIV alpha 1 chain	chr1:86194916-86622626		Cholesterol, LDL; Platelet Count; Hip; Osteoporosis; Tobacco Use Disorder; Forced Expiratory Volume; Type 2 Diabetes| edema | rosiglitazone	 	Collagen chain trimerization	GO:0002244;hematopoietic progenitor cell differentiation;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL24A1			https://www.ncbi.nlm.nih.gov/omim/?term=610025	http://www.informatics.jax.org/searchtool/Search.do?query=COL24A1&submit=Quick%0D%12949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL24A1	rs7536101	0.435304	0.3782	0	1	0	0	intronic	intronic	intronic	COL24A1	COL24A1	ENSG00000171502	Na	Na	Na	Na	Na	Na	Het;A>G	210;17|12	Hom;A>G	869;0|28
N	N	-	1	86952324	86952324	A	G	snp	nonsynonymous SNV	A1070G	N357S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CLCA1	Clca1	ENSG00000016490	chloride channel accessory 1	chr1:86934051-86965972	This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]	Cystic Fibrosis|Ileus; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; kidney aging; Waist Circumference; Meningeal Neoplasms|meningioma; asthma; Respiratory Function Tests	Mice homozygous for a null allele exhibit an exacerbated mucin response.	Stimuli-sensing channels	GO:0006508;proteolysis;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0071456;cellular response to hypoxia;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;IEA|GO:0042589;zymogen granule membrane;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005229;intracellular calcium activated chloride channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCA1	https://www.uniprot.org/uniprot/A8K7I4		https://www.ncbi.nlm.nih.gov/omim/?term=603906	http://www.informatics.jax.org/searchtool/Search.do?query=CLCA1&submit=Quick%0D%629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCA1	rs2734705	0.886981	0.8691	0.8629	0.15	2	13	exonic	exonic	exonic	CLCA1	CLCA1	ENSG00000016490	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CLCA1:NM_001285:exon7:c.A1070G:p.N357S,	CLCA1:uc001dls.1:exon7:c.A887G:p.N296S,CLCA1:uc001dlt.3:exon7:c.A1070G:p.N357S,	ENSG00000016490:ENST00000394711:exon7:c.A1070G:p.N357S,ENSG00000016490:ENST00000234701:exon8:c.A1070G:p.N357S,	Het;A>G	1007;61|46	Hom;A>G	1814;0|67
N	N	-	1	86959014	86959014	T	C	snp	intronic	 	 	 	 	CLCA1	Clca1	ENSG00000016490	chloride channel accessory 1	chr1:86934051-86965972	This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]	Cystic Fibrosis|Ileus; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; kidney aging; Waist Circumference; Meningeal Neoplasms|meningioma; asthma; Respiratory Function Tests	Mice homozygous for a null allele exhibit an exacerbated mucin response.	Stimuli-sensing channels	GO:0006508;proteolysis;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0071456;cellular response to hypoxia;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;IEA|GO:0042589;zymogen granule membrane;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005229;intracellular calcium activated chloride channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCA1	https://www.uniprot.org/uniprot/A8K7I4		https://www.ncbi.nlm.nih.gov/omim/?term=603906	http://www.informatics.jax.org/searchtool/Search.do?query=CLCA1&submit=Quick%0D%629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCA1	rs2753346	0.854034	0	0	1	0	0	intronic	intronic	intronic	CLCA1	CLCA1	ENSG00000016490	Na	Na	Na	Na	Na	Na	Het;T>C	490;18|20	Hom;T>C	1438;0|46
N	N	-	1	86959173	86959173	T	C	snp	nonsynonymous SNV	T1571C	M524T	hydrophobic,neutral	polar,hydrophilic,neutral	CLCA1	Clca1	ENSG00000016490	chloride channel accessory 1	chr1:86934051-86965972	This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]	Cystic Fibrosis|Ileus; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; kidney aging; Waist Circumference; Meningeal Neoplasms|meningioma; asthma; Respiratory Function Tests	Mice homozygous for a null allele exhibit an exacerbated mucin response.	Stimuli-sensing channels	GO:0006508;proteolysis;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0071456;cellular response to hypoxia;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;IEA|GO:0042589;zymogen granule membrane;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005229;intracellular calcium activated chloride channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCA1	https://www.uniprot.org/uniprot/A8K7I4		https://www.ncbi.nlm.nih.gov/omim/?term=603906	http://www.informatics.jax.org/searchtool/Search.do?query=CLCA1&submit=Quick%0D%629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCA1	rs2791494	0.849641	0.8017	0.8419	0.08	1	13	exonic	exonic	exonic	CLCA1	CLCA1	ENSG00000016490	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CLCA1:NM_001285:exon10:c.T1571C:p.M524T,	CLCA1:uc001dls.1:exon10:c.T1388C:p.M463T,CLCA1:uc001dlt.3:exon10:c.T1571C:p.M524T,	ENSG00000016490:ENST00000394711:exon10:c.T1571C:p.M524T,ENSG00000016490:ENST00000234701:exon11:c.T1571C:p.M524T,	Het;T>C	1493;144|77	Hom;T>C	4960;0|180
N	N	-	1	86959796	86959796	C	T	snp	intronic	 	 	 	 	CLCA1	Clca1	ENSG00000016490	chloride channel accessory 1	chr1:86934051-86965972	This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]	Cystic Fibrosis|Ileus; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; kidney aging; Waist Circumference; Meningeal Neoplasms|meningioma; asthma; Respiratory Function Tests	Mice homozygous for a null allele exhibit an exacerbated mucin response.	Stimuli-sensing channels	GO:0006508;proteolysis;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0071456;cellular response to hypoxia;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;IEA|GO:0042589;zymogen granule membrane;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005229;intracellular calcium activated chloride channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCA1	https://www.uniprot.org/uniprot/A8K7I4		https://www.ncbi.nlm.nih.gov/omim/?term=603906	http://www.informatics.jax.org/searchtool/Search.do?query=CLCA1&submit=Quick%0D%629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCA1	rs1321689	0.721246	0	0	1	0	0	intronic	intronic	intronic	CLCA1	CLCA1	ENSG00000016490	Na	Na	Na	Na	Na	Na	Het;C>T	133;6|5	Hom;C>T	326;0|10
N	N	-	1	87169592	87169595	TAAG	T	indel	ncRNA_exonic	 	 	 	 	AL049597.2																		rs3834007	0.348642	0	0	1	0	0	upstream	upstream	ncRNA_exonic	SH3GLB1	SH3GLB1	ENSG00000261737	Na	Na	Na	Na	Na	Na	Het;-AAG	5452;144|142	Hom;-AAG	12385;0|276
N	N	-	1	87200729	87200729	C	G	snp	intronic	 	 	 	 	SH3GLB1	Sh3glb1	ENSG00000097033	SH3 domain containing GRB2 like, endophilin B1	chr1:87170259-87213867	This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]	Breast Neoplasms|Carcinoma|Carcinoma, Large Cell|Colorectal Neoplasms|Leukemia, Lymphoid|Lung Neoplasms|Neoplasms|Stomach Neoplasms	Homozygous mutation of this gene results in delayed apoptosis of embryonic fibroblasts in response to serum withdrawal or treatment with a mitochondrial stress inducer.		GO:0006654;phosphatidic acid biosynthetic process;IEA|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0010508;positive regulation of autophagy;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0031647;regulation of protein stability;IMP|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032465;regulation of cytokinesis;IMP|GO:0032801;receptor catabolic process;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0042149;cellular response to glucose starvation;IMP|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048102;autophagic cell death;IMP|GO:0051084;'de novo' posttranslational protein folding;IEA|GO:0051259;protein oligomerization;IDA|GO:0090148;membrane fission;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;IEA|GO:1903527;positive regulation of membrane tubulation;IMP|GO:1903778;protein localization to vacuolar membrane;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0000421;autophagosome membrane;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005504;fatty acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042171;lysophosphatidic acid acyltransferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SH3GLB1	https://www.uniprot.org/uniprot/Q9Y371		https://www.ncbi.nlm.nih.gov/omim/?term=609287	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GLB1&submit=Quick%0D%2293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GLB1	rs263483	0.569489	0.4788	0.4316	1	0	0	intronic	intronic	intronic	SH3GLB1	SH3GLB1	ENSG00000097033	Na	Na	Na	Na	Na	Na	Het;C>G	1553;50|66	Hom;C>G	3328;0|112
N	N	-	1	87208953	87208953	T	A	snp	UTR3	*35T>A	 	 	 	SH3GLB1	Sh3glb1	ENSG00000097033	SH3 domain containing GRB2 like, endophilin B1	chr1:87170259-87213867	This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]	Breast Neoplasms|Carcinoma|Carcinoma, Large Cell|Colorectal Neoplasms|Leukemia, Lymphoid|Lung Neoplasms|Neoplasms|Stomach Neoplasms	Homozygous mutation of this gene results in delayed apoptosis of embryonic fibroblasts in response to serum withdrawal or treatment with a mitochondrial stress inducer.		GO:0006654;phosphatidic acid biosynthetic process;IEA|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0010508;positive regulation of autophagy;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0031647;regulation of protein stability;IMP|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032465;regulation of cytokinesis;IMP|GO:0032801;receptor catabolic process;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0042149;cellular response to glucose starvation;IMP|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048102;autophagic cell death;IMP|GO:0051084;'de novo' posttranslational protein folding;IEA|GO:0051259;protein oligomerization;IDA|GO:0090148;membrane fission;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;IEA|GO:1903527;positive regulation of membrane tubulation;IMP|GO:1903778;protein localization to vacuolar membrane;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0000421;autophagosome membrane;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005504;fatty acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042171;lysophosphatidic acid acyltransferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SH3GLB1	https://www.uniprot.org/uniprot/Q9Y371		https://www.ncbi.nlm.nih.gov/omim/?term=609287	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GLB1&submit=Quick%0D%2293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GLB1	rs7805	0.342252	0.3565	0.2533	1	0	0	UTR3	UTR3	UTR3	SH3GLB1(NM_001206653:c.*35T>A,NM_001206652:c.*35T>A,NM_016009:c.*35T>A,NM_001206651:c.*35T>A)	SH3GLB1(uc001dlx.3:c.*35T>A,uc001dly.3:c.*35T>A,uc001dlw.3:c.*35T>A,uc001dlz.3:c.*35T>A)	ENSG00000097033(ENST00000370558:c.*35T>A,ENST00000535010:c.*35T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	559;51|28	Hom;T>A	2452;3|87
N	N	-	1	87328308	87328308	C	T	snp	UTR3	*849G>A	 	 	 	SELENOF																		rs540049	0.232228	0	0	1	0	0	UTR3	UTR3	UTR3	SEP15(NM_004261:c.*849G>A,NM_203341:c.*922G>A)	SEP15(uc021oph.1:c.*849G>A,uc021opi.1:c.*922G>A)	ENSG00000183291(ENST00000331835:c.*849G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	449;24|24	Hom;C>T	1303;0|48
N	N	-	1	87328525	87328525	C	T	snp	UTR3	*632G>A	 	 	 	SELENOF																		rs5859	0.280351	0	0	1	0	0	UTR3	UTR3	UTR3	SEP15(NM_004261:c.*632G>A,NM_203341:c.*705G>A)	SEP15(uc021oph.1:c.*632G>A,uc021opi.1:c.*705G>A)	ENSG00000183291(ENST00000331835:c.*632G>A,ENST00000370554:c.*705G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1315;53|59	Hom;C>T	3279;1|118
N	N	-	1	87328839	87328839	G	A	snp	UTR3	*318C>T	 	 	 	SELENOF																		rs5845	0.280551	0	0	1	0	0	UTR3	UTR3	UTR3	SEP15(NM_004261:c.*318C>T,NM_203341:c.*391C>T)	SEP15(uc021oph.1:c.*318C>T,uc021opi.1:c.*391C>T)	ENSG00000183291(ENST00000331835:c.*318C>T,ENST00000370554:c.*391C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	3050;102|131	Hom;G>A	5889;0|203
N	N	-	1	87368917	87368917	A	G	snp	intronic	 	 	 	 	SEP15	Sep15																	rs573680	0.231829	0.2775	0.2045	1	0	0	intronic	intronic	intronic	SEP15	SEP15	ENSG00000183291	Na	Na	Na	Na	Na	Na	Het;A>G	128;6|6	Hom;A>G	905;0|29
N	N	-	1	87369176	87369176	C	T	snp	intronic	 	 	 	 	SEP15	Sep15																	rs571015	0.231629	0.2688	0.2200	1	0	0	intronic	intronic	intronic	SEP15	SEP15	ENSG00000183291	Na	Na	Na	Na	Na	Na	Het;C>T	540;9|22	Hom;C>T	1002;0|36
N	N	-	1	87379637	87379637	C	T	snp	intronic	 	 	 	 	SEP15	Sep15																	rs578851	0.108826	0	0	1	0	0	intronic	intronic	intronic	SEP15	SEP15	ENSG00000183291	Na	Na	Na	Na	Na	Na	Het;C>T	1157;71|46	Hom;C>T	3230;0|112
N	N	-	1	87379996	87379996	G	T	snp	UTR5	-202C>A	 	 	 	SEP15	Sep15																	rs101028	0.219449	0	0	1	0	0	UTR5	UTR5	UTR5	SEP15(NM_004261:c.-202C>A,NM_203341:c.-202C>A)	SEP15(uc021oph.1:c.-202C>A,uc021opi.1:c.-202C>A)	ENSG00000183291(ENST00000331835:c.-211C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	658;10|29	Hom;G>T	1648;0|59
N	N	-	1	87380631	87380631	C	T	snp	UTR5	-89C>T	 	 	 	HS2ST1	Hs2st1	ENSG00000153936	heparan sulfate 2-O-sulfotransferase 1	chr1:87380331-87602334	Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]	Smoking; Tobacco Use Disorder; Eosinophils; Erythrocyte Count; Stroke; Glucose; Blood Pressure	A mutation in this gene causes bilateral renal agenesis, bone defects, eye development abnormalities and cataracts in homozygous mice.	HS-GAG biosynthesis	GO:0006024;glycosaminoglycan biosynthetic process;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004394;heparan sulfate 2-O-sulfotransferase activity;TAS|GO:0008146;sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HS2ST1	https://www.uniprot.org/uniprot/Q7LGA3		https://www.ncbi.nlm.nih.gov/omim/?term=604844	http://www.informatics.jax.org/searchtool/Search.do?query=HS2ST1&submit=Quick%0D%9705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HS2ST1	rs548649	0.0519169	0	0	1	0	0	UTR5	UTR5	UTR5	HS2ST1(NM_001134492:c.-89C>T,NM_012262:c.-89C>T)	HS2ST1(uc001dmc.4:c.-89C>T,uc010osk.2:c.-89C>T)	ENSG00000153936(ENST00000370551:c.-89C>T,ENST00000370550:c.-89C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	52;5|3	Hom;C>T	310;0|11
N	N	-	1	874950	874950	T	TCCCTGGAGGACC	indel	intronic	 	 	 	 	SAMD11	Samd11	ENSG00000187634	sterile alpha motif domain containing 11	chr1:860260-879955			 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SAMD11			https://www.ncbi.nlm.nih.gov/omim/?term=616765	http://www.informatics.jax.org/searchtool/Search.do?query=SAMD11&submit=Quick%0D%15862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD11	rs6143081	0.729832	0	0	1	0	0	intronic	intronic	intronic	SAMD11	SAMD11	ENSG00000187634	Na	Na	Na	Na	Na	Na	Het;+CCCTGGAGGACC	200;5|6	Hom;+CCCTGGAGGACC	505;0|13
N	N	-	1	87510759	87510759	C	A	snp	ncRNA_exonic	 	 	 	 	AC093155.2																		rs181483699	0.00199681	0	0	1	0	0	intronic	intronic	ncRNA_exonic	HS2ST1	HS2ST1,LOC339524	ENSG00000235251	Na	Na	Na	Na	Na	Na	Het;C>A	371;11|18	Hom;C>A	722;0|26
N	N	-	1	89225976	89225976	T	C	snp	synonymous SNV	T421C	L141L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PKN2	Pkn2	ENSG00000065243	protein kinase N2	chr1:89149905-89301938		Tobacco Use Disorder; diabetes, type 2; Monocytes; Cleft Lip|Cleft Palate|Tooth Abnormalities; Glomerular Filtration Rate; Type 2 diabetes; Hip; Type 2 Diabetes| edema | rosiglitazone; Respiratory Function Tests	Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired mesenchymal cell proliferation and neural crest cell migration.	RHO GTPases activate PKNs	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0010631;epithelial cell migration;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035556;intracellular signal transduction;IBA|GO:0043297;apical junction assembly;IMP|GO:0045070;positive regulation of viral genome replication;IMP|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0051301;cell division;IEA|GO:2000145;regulation of cell motility;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IDA|GO:0032154;cleavage furrow;IDA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0043296;apical junction complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IDA|GO:0045296;cadherin binding;IDA|GO:0070063;RNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKN2	https://www.uniprot.org/uniprot/Q16513		https://www.ncbi.nlm.nih.gov/omim/?term=602549	http://www.informatics.jax.org/searchtool/Search.do?query=PKN2&submit=Quick%0D%1164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKN2	rs430600	0.750599	0.7153	0.6929	1	0	0	exonic	exonic	exonic	PKN2	PKN2	ENSG00000065243	synonymous SNV	synonymous SNV	synonymous SNV	PKN2:NM_006256:exon3:c.T421C:p.L141L,	PKN2:uc010osp.2:exon3:c.T421C:p.L141L,PKN2:uc001dmn.3:exon3:c.T421C:p.L141L,PKN2:uc009wcv.3:exon3:c.T421C:p.L141L,	ENSG00000065243:ENST00000370513:exon3:c.T421C:p.L141L,ENSG00000065243:ENST00000370521:exon3:c.T421C:p.L141L,ENSG00000065243:ENST00000316005:exon3:c.T421C:p.L141L,	Het;T>C	1288;60|58	Hom;T>C	3153;0|117
N	N	-	1	89236029	89236029	T	A	snp	intronic	 	 	 	 	PKN2	Pkn2	ENSG00000065243	protein kinase N2	chr1:89149905-89301938		Tobacco Use Disorder; diabetes, type 2; Monocytes; Cleft Lip|Cleft Palate|Tooth Abnormalities; Glomerular Filtration Rate; Type 2 diabetes; Hip; Type 2 Diabetes| edema | rosiglitazone; Respiratory Function Tests	Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired mesenchymal cell proliferation and neural crest cell migration.	RHO GTPases activate PKNs	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0010631;epithelial cell migration;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035556;intracellular signal transduction;IBA|GO:0043297;apical junction assembly;IMP|GO:0045070;positive regulation of viral genome replication;IMP|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0051301;cell division;IEA|GO:2000145;regulation of cell motility;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IDA|GO:0032154;cleavage furrow;IDA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0043296;apical junction complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IDA|GO:0045296;cadherin binding;IDA|GO:0070063;RNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKN2	https://www.uniprot.org/uniprot/Q16513		https://www.ncbi.nlm.nih.gov/omim/?term=602549	http://www.informatics.jax.org/searchtool/Search.do?query=PKN2&submit=Quick%0D%1164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKN2	rs7541301	0.510184	0.5117	0.5666	1	0	0	intronic	intronic	intronic	PKN2	PKN2	ENSG00000065243	Na	Na	Na	Na	Na	Na	Het;T>A	1171;62|58	Hom;T>A	2073;0|79
N	N	-	1	89271574	89271574	T	C	snp	synonymous SNV	T1206C	S402S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PKN2	Pkn2	ENSG00000065243	protein kinase N2	chr1:89149905-89301938		Tobacco Use Disorder; diabetes, type 2; Monocytes; Cleft Lip|Cleft Palate|Tooth Abnormalities; Glomerular Filtration Rate; Type 2 diabetes; Hip; Type 2 Diabetes| edema | rosiglitazone; Respiratory Function Tests	Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired mesenchymal cell proliferation and neural crest cell migration.	RHO GTPases activate PKNs	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0010631;epithelial cell migration;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035556;intracellular signal transduction;IBA|GO:0043297;apical junction assembly;IMP|GO:0045070;positive regulation of viral genome replication;IMP|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0051301;cell division;IEA|GO:2000145;regulation of cell motility;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IDA|GO:0032154;cleavage furrow;IDA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0043296;apical junction complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IDA|GO:0045296;cadherin binding;IDA|GO:0070063;RNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKN2	https://www.uniprot.org/uniprot/Q16513		https://www.ncbi.nlm.nih.gov/omim/?term=602549	http://www.informatics.jax.org/searchtool/Search.do?query=PKN2&submit=Quick%0D%1164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKN2	rs786906	0.511581	0.5139	0.5640	1	0	0	exonic	exonic	exonic	PKN2	PKN2	ENSG00000065243	synonymous SNV	synonymous SNV	synonymous SNV	PKN2:NM_006256:exon12:c.T1677C:p.S559S,	PKN2:uc010osq.2:exon11:c.T1206C:p.S402S,PKN2:uc010osr.2:exon7:c.T672C:p.S224S,PKN2:uc010osp.2:exon12:c.T1629C:p.S543S,PKN2:uc001dmn.3:exon12:c.T1677C:p.S559S,PKN2:uc009wcv.3:exon11:c.T1533C:p.S511S,	ENSG00000065243:ENST00000544045:exon7:c.T699C:p.S233S,ENSG00000065243:ENST00000370513:exon11:c.T1533C:p.S511S,ENSG00000065243:ENST00000370521:exon12:c.T1677C:p.S559S,ENSG00000065243:ENST00000370505:exon11:c.T1206C:p.S402S,	Het;T>C	1077;24|45	Hom;T>C	1936;0|66
N	N	-	1	89569155	89569155	C	A	snp	downstream	 	 	 	 	PTGES3P1																		rs1807754	0.626797	0	0	1	0	0	intergenic	intergenic	downstream	GBP1(dist=38112),GBP2(dist=2661)	GBP1(dist=38112),GBP2(dist=4155)	ENSG00000234518	Na	Na	Na	Na	Na	Na	Het;C>A	153;1|6	Hom;C>A	110;0|4
N	N	-	1	9073801	9073801	C	T	snp	intronic	 	 	 	 	SLC2A7	Slc2a7	ENSG00000197241	solute carrier family 2 member 7	chr1:9063359-9086404	SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]		 	Cellular hexose transport	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0034219;carbohydrate transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0051119;sugar transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC2A7			https://www.ncbi.nlm.nih.gov/omim/?term=610371	http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A7&submit=Quick%0D%16578ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A7	rs7537425	0.424321	0	0	1	0	0	intronic	intronic	intronic	SLC2A7	SLC2A7	ENSG00000197241	Na	Na	Na	Na	Na	Na	Het;C>T	124;1|6	Hom;C>T	295;0|10
N	N	-	1	91781413	91781413	T	G	snp	synonymous SNV	A2151C	I717I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HFM1	Hfm1	ENSG00000162669	HFM1, ATP dependent DNA helicase homolog	chr1:91726323-91870426	The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]	longevity; Tobacco Use Disorder	Meiosis ais disrupted in homozygotes and bothe sexes are sterile		GO:0000712;resolution of meiotic recombination intermediates;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0051321;meiotic cell cycle;IEA		GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HFM1		https://hpo.jax.org/app/browse/search?q=HFM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615684	http://www.informatics.jax.org/searchtool/Search.do?query=HFM1&submit=Quick%0D%10765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HFM1	rs281992	0.762979	0.6881	0.7059	1	0	0	exonic	exonic	exonic	HFM1	HFM1	ENSG00000162669	synonymous SNV	synonymous SNV	synonymous SNV	HFM1:NM_001017975:exon28:c.A3099C:p.I1033I,	HFM1:uc010osv.1:exon22:c.A2151C:p.I717I,HFM1:uc001dob.4:exon9:c.A663C:p.I221I,HFM1:uc010osu.2:exon24:c.A2136C:p.I712I,HFM1:uc001doa.4:exon28:c.A3099C:p.I1033I,	ENSG00000162669:ENST00000294696:exon28:c.A795C:p.I265I,ENSG00000162669:ENST00000370424:exon24:c.A2136C:p.I712I,ENSG00000162669:ENST00000370425:exon28:c.A3099C:p.I1033I,	Het;T>G	943;64|48	Hom;T>G	2647;0|99
N	N	-	1	91794091	91794091	G	C	snp	ncRNA_exonic	 	 	 	 	FEN1P1																		rs7541566	0.338259	0	0	1	0	0	intronic	intronic	ncRNA_exonic	HFM1	HFM1	ENSG00000215873	Na	Na	Na	Na	Na	Na	Het;G>C	1026;35|44	Hom;G>C	2207;0|78
N	N	-	1	91794248	91794248	G	A	snp	ncRNA_exonic	 	 	 	 	FEN1P1																		rs281973	0.439896	0	0	1	0	0	intronic	intronic	ncRNA_exonic	HFM1	HFM1	ENSG00000215873	Na	Na	Na	Na	Na	Na	Het;G>A	416;13|17	Hom;G>A	1217;0|42
N	N	-	1	91794494	91794494	G	A	snp	ncRNA_exonic	 	 	 	 	FEN1P1																		rs3893101	0.332867	0	0	1	0	0	intronic	intronic	ncRNA_exonic	HFM1	HFM1	ENSG00000215873	Na	Na	Na	Na	Na	Na	Het;G>A	799;33|35	Hom;G>A	1904;0|69
N	N	-	1	91794940	91794940	C	A	snp	ncRNA_exonic	 	 	 	 	FEN1P1																		Na	0	0	0	1	0	0	intronic	intronic	ncRNA_exonic	HFM1	HFM1	ENSG00000215873	Na	Na	Na	Na	Na	Na	Het;C>A	763;36|37	Hom;C>A	923;1|36
N	N	-	1	91967142	91967142	G	GC	indel	intronic	 	 	 	 	CDC7	Cdc7	ENSG00000097046	cell division cycle 7	chr1:91966408-91991321	This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]	Blood Pressure; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Body Mass Index	Homozygous mutation of this gene results in embryonic lethality between E3.5-E6.5. In conjunction with a Trp53-null allele, double homozygous mutant embryos survive up to E8.5.	Activation of the pre-replicative complex	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006909;phagocytosis;IBA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008360;regulation of cell shape;IBA|GO:0010571;positive regulation of nuclear cell cycle DNA replication;IMP|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0044770;cell cycle phase transition;IMP|GO:0051301;cell division;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0045171;intercellular bridge;IDA|GO:0072686;mitotic spindle;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IMP|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDC7	https://www.uniprot.org/uniprot/O00311		https://www.ncbi.nlm.nih.gov/omim/?term=603311	http://www.informatics.jax.org/searchtool/Search.do?query=CDC7&submit=Quick%0D%2294ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC7	rs13447458	0.242013	0	0	1	0	0	intronic	intronic	intronic	CDC7	CDC7	ENSG00000097046	Na	Na	Na	Na	Na	Na	Het;+C	126;3|5	Hom;+C	186;0|6
N	N	-	1	91989572	91989572	T	G	snp	intronic	 	 	 	 	CDC7	Cdc7	ENSG00000097046	cell division cycle 7	chr1:91966408-91991321	This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]	Blood Pressure; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Body Mass Index	Homozygous mutation of this gene results in embryonic lethality between E3.5-E6.5. In conjunction with a Trp53-null allele, double homozygous mutant embryos survive up to E8.5.	Activation of the pre-replicative complex	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006909;phagocytosis;IBA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008360;regulation of cell shape;IBA|GO:0010571;positive regulation of nuclear cell cycle DNA replication;IMP|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0044770;cell cycle phase transition;IMP|GO:0051301;cell division;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0045171;intercellular bridge;IDA|GO:0072686;mitotic spindle;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IMP|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDC7	https://www.uniprot.org/uniprot/O00311		https://www.ncbi.nlm.nih.gov/omim/?term=603311	http://www.informatics.jax.org/searchtool/Search.do?query=CDC7&submit=Quick%0D%2294ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC7	rs488126	0.988419	0.9890	0.9749	1	0	0	intronic	intronic	intronic	CDC7	CDC7	ENSG00000097046	Na	Na	Na	Na	Na	Na	Het;T>G	454;22|22	Hom;T>G	859;0|26
N	N	-	1	92262874	92262874	T	C	snp	synonymous SNV	A90G	A30A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TGFBR3	Tgfbr3	ENSG00000069702	transforming growth factor beta receptor 3	chr1:92145902-92371892	This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]	asthma; bacteremia; C-Reactive Protein; Dupuytren's disease; Bone Mineral Density; Intracranial Aneurysm|Stroke; Tobacco Use Disorder; Heart Failure; keloid disease; Hyperparathyroidism, Secondary; Bone Density; premature ovarian failure primary amenorrhea; Cleft Lip|Cleft Palate|Tooth Abnormalities; prostate cancer; keloid disease; priapism; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Hepatitis C, Chronic|Liver Cirrhosis; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hip Fractures|Osteoporosis; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema	Mice homozygous for disruptions in this gene usually die as embryos.  The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system.		GO:0001666;response to hypoxia;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001889;liver development;ISS|GO:0003007;heart morphogenesis;ISS|GO:0003150;muscular septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;ISS|GO:0003223;ventricular compact myocardium morphogenesis;ISS|GO:0006461;protein complex assembly;IEA|GO:0006955;immune response;IMP|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007181;transforming growth factor beta receptor complex assembly;IEA|GO:0016049;cell growth;ISS|GO:0016477;cell migration;ISS|GO:0030509;BMP signaling pathway;IDA|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0031100;animal organ regeneration;IEA|GO:0032354;response to follicle-stimulating hormone;IDA|GO:0034695;response to prostaglandin E;IDA|GO:0034699;response to luteinizing hormone;IDA|GO:0035556;intracellular signal transduction;IMP|GO:0043393;regulation of protein binding;IEA|GO:0050680;negative regulation of epithelial cell proliferation;ISS|GO:0051271;negative regulation of cellular component movement;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060021;palate development;ISS|GO:0060038;cardiac muscle cell proliferation;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060216;definitive hemopoiesis;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IDA|GO:0060318;definitive erythrocyte differentiation;ISS|GO:0060347;heart trabecula formation;ISS|GO:0060389;pathway-restricted SMAD protein phosphorylation;IMP|GO:0060412;ventricular septum morphogenesis;ISS|GO:0060939;epicardium-derived cardiac fibroblast cell development;ISS|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;ISS|GO:0061384;heart trabecula morphogenesis;ISS	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;ISS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034673;inhibin-betaglycan-ActRII complex;IDA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005024;transforming growth factor beta-activated receptor activity;IDA|GO:0005114;type II transforming growth factor beta receptor binding;IDA|GO:0005160;transforming growth factor beta receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0005539;glycosaminoglycan binding;ISS|GO:0008201;heparin binding;ISS|GO:0015026;coreceptor activity;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0030165;PDZ domain binding;ISS|GO:0046332;SMAD binding;IMP|GO:0048185;activin binding;IEA|GO:0050431;transforming growth factor beta binding;IDA|GO:0070123;transforming growth factor beta receptor activity, type III;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TGFBR3	https://www.uniprot.org/uniprot/Q03167	https://hpo.jax.org/app/browse/search?q=TGFBR3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600742	http://www.informatics.jax.org/searchtool/Search.do?query=TGFBR3&submit=Quick%0D%1325ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFBR3	rs2810904	0.715256	0.6786	0.6631	1	0	0	exonic	exonic	exonic	TGFBR3	TGFBR3	ENSG00000069702	synonymous SNV	synonymous SNV	synonymous SNV	TGFBR3:NM_001195684:exon4:c.A216G:p.A72A,TGFBR3:NM_003243:exon3:c.A216G:p.A72A,TGFBR3:NM_001195683:exon3:c.A216G:p.A72A,	TGFBR3:uc010osy.2:exon4:c.A90G:p.A30A,TGFBR3:uc001doh.3:exon3:c.A216G:p.A72A,TGFBR3:uc001doj.3:exon4:c.A216G:p.A72A,TGFBR3:uc001doi.3:exon3:c.A216G:p.A72A,	ENSG00000069702:ENST00000370399:exon4:c.A216G:p.A72A,ENSG00000069702:ENST00000212355:exon3:c.A216G:p.A72A,ENSG00000069702:ENST00000525962:exon2:c.A216G:p.A72A,ENSG00000069702:ENST00000533089:exon2:c.A216G:p.A72A,ENSG00000069702:ENST00000465892:exon3:c.A216G:p.A72A,	Het;T>C	577;38|30	Hom;T>C	1487;0|57
N	N	-	1	92568263	92568263	A	G	snp	intronic	 	 	 	 	BTBD8	Btbd8	ENSG00000284413	BTB domain containing 8	chr1:92545862-92613393			 		GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/BTBD8				http://www.informatics.jax.org/searchtool/Search.do?query=BTBD8&submit=Quick%0D%23010ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD8	rs527412	0.778355	0.6983	0.7060	1	0	0	intronic	intronic	intronic	BTBD8	BTBD8	ENSG00000189195	Na	Na	Na	Na	Na	Na	Het;A>G	193;9|9	Hom;A>G	895;0|28
N	N	-	1	92573670	92573670	G	A	snp	intronic	 	 	 	 	BTBD8	Btbd8	ENSG00000284413	BTB domain containing 8	chr1:92545862-92613393			 		GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/BTBD8				http://www.informatics.jax.org/searchtool/Search.do?query=BTBD8&submit=Quick%0D%23010ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD8	rs11166163	0.205272	0	0	1	0	0	intronic	intronic	intronic	BTBD8	BTBD8	ENSG00000189195	Na	Na	Na	Na	Na	Na	Het;G>A	514;19|21	Hom;G>A	1232;0|41
N	N	-	1	92591916	92591916	G	A	snp	ncRNA_exonic	 	 	 	 	PRKAR1AP1																		rs3851272	0.726038	0	0	1	0	0	intronic	intronic	ncRNA_exonic	BTBD8	BTBD8	ENSG00000233401	Na	Na	Na	Na	Na	Na	Het;G>A	316;17|15	Hom;G>A	1010;0|36
N	N	-	1	92592063	92592063	C	CG	indel	intronic	 	 	 	 	BTBD8	Btbd8	ENSG00000284413	BTB domain containing 8	chr1:92545862-92613393			 		GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/BTBD8				http://www.informatics.jax.org/searchtool/Search.do?query=BTBD8&submit=Quick%0D%23010ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD8	rs145850947	0.73742	0	0	1	0	0	intronic	intronic	intronic	BTBD8	BTBD8	ENSG00000189195	Na	Na	Na	Na	Na	Na	Het;+G	354;10|11	Hom;+G	1193;0|28
N	N	-	1	92592064	92592064	T	TA	indel	intronic	 	 	 	 	BTBD8	Btbd8	ENSG00000284413	BTB domain containing 8	chr1:92545862-92613393			 		GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/BTBD8				http://www.informatics.jax.org/searchtool/Search.do?query=BTBD8&submit=Quick%0D%23010ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD8	rs151243048	0.73742	0	0	1	0	0	intronic	intronic	intronic	BTBD8	BTBD8	ENSG00000189195	Na	Na	Na	Na	Na	Na	Het;+A	354;10|9	Hom;+A	1193;0|27
N	N	-	1	92646021	92646021	G	A	snp	synonymous SNV	G1467A	K489K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	KIAA1107	A830010M20Rik	ENSG00000069712	KIAA1107	chr1:92632542-92650280			 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA1107	https://www.uniprot.org/uniprot/Q9UPP5			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1107&submit=Quick%0D%1326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1107	rs1483022	0.710863	0	0.6736	1	0	0	exonic	exonic	exonic	KIAA1107	KIAA1107	ENSG00000069712	synonymous SNV	synonymous SNV	synonymous SNV	KIAA1107:NM_015237:exon8:c.G1467A:p.K489K,	KIAA1107:uc010otd.2:exon8:c.G1467A:p.K489K,KIAA1107:uc001dop.3:exon6:c.G1242A:p.K414K,	ENSG00000069712:ENST00000370378:exon8:c.G1467A:p.K489K,ENSG00000069712:ENST00000409154:exon8:c.G1632A:p.K544K,	Het;G>A	281;35|18	Hom;G>A	2184;0|82
N	N	-	1	92647223	92647223	A	G	snp	nonsynonymous SNV	A2669G	N890S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KIAA1107	A830010M20Rik	ENSG00000069712	KIAA1107	chr1:92632542-92650280			 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA1107	https://www.uniprot.org/uniprot/Q9UPP5			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1107&submit=Quick%0D%1326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1107	rs560389	0.83127	0.7511	0.7387	0.15	2	13	exonic	exonic	exonic	KIAA1107	KIAA1107	ENSG00000069712	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	KIAA1107:NM_015237:exon8:c.A2669G:p.N890S,	KIAA1107:uc010otd.2:exon8:c.A2669G:p.N890S,KIAA1107:uc001dop.3:exon6:c.A2444G:p.N815S,	ENSG00000069712:ENST00000370378:exon8:c.A2669G:p.N890S,ENSG00000069712:ENST00000409154:exon8:c.A2834G:p.N945S,	Het;A>G	766;40|34	Hom;A>G	2072;0|72
N	N	-	1	92711067	92711067	A	T	snp	intronic	 	 	 	 	C1orf146	1700028K03Rik	ENSG00000203910	chromosome 1 open reading frame 146	chr1:92683497-92711370			 					http://www.genecards.org/index.php?path=/Search/keyword/C1orf146				http://www.informatics.jax.org/searchtool/Search.do?query=C1orf146&submit=Quick%0D%17166ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf146	rs3131827	0.620807	0.4528	0.5246	1	0	0	intronic	intronic	intronic	C1orf146	C1orf146	ENSG00000203910	Na	Na	Na	Na	Na	Na	Het;A>T	642;21|32	Hom;A>T	1783;0|65
N	N	-	1	92711972	92711972	C	G	snp	UTR3	*115G>C	 	 	 	GLMN	Glmn	ENSG00000174842	glomulin, FKBP associated protein	chr1:92711959-92764544	This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]	GLOMUVENOUS MALFORMATIONS	Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0001570;vasculogenesis;IMP|GO:0001843;neural tube closure;IEA|GO:0031397;negative regulation of protein ubiquitination;IEA|GO:0032434;regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042130;negative regulation of T cell proliferation;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042692;muscle cell differentiation;IMP|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IMP|GO:0050715;positive regulation of cytokine secretion;IMP|GO:0072359;circulatory system development;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IBA|GO:0031461;cullin-RING ubiquitin ligase complex;IPI|GO:0031462;Cul2-RING ubiquitin ligase complex;IPI|GO:0031463;Cul3-RING ubiquitin ligase complex;IPI|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IPI	GO:0005171;hepatocyte growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0055105;ubiquitin-protein transferase inhibitor activity;IGI	http://www.genecards.org/index.php?path=/Search/keyword/GLMN		https://hpo.jax.org/app/browse/search?q=GLMN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601749	http://www.informatics.jax.org/searchtool/Search.do?query=GLMN&submit=Quick%0D%13587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLMN	rs2046620	0.616014	0	0	1	0	0	UTR3	UTR3	UTR3	GLMN(NM_053274:c.*115G>C)	GLMN(uc001dor.3:c.*115G>C,uc001dos.3:c.*115G>C)	ENSG00000174842(ENST00000370360:c.*115G>C,ENST00000534881:c.*115G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	227;16|10	Hom;C>G	659;0|22
N	N	-	1	92712598	92712600	GAA	G	indel	intronic	 	 	 	 	GLMN	Glmn	ENSG00000174842	glomulin, FKBP associated protein	chr1:92711959-92764544	This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]	GLOMUVENOUS MALFORMATIONS	Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0001570;vasculogenesis;IMP|GO:0001843;neural tube closure;IEA|GO:0031397;negative regulation of protein ubiquitination;IEA|GO:0032434;regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042130;negative regulation of T cell proliferation;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042692;muscle cell differentiation;IMP|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IMP|GO:0050715;positive regulation of cytokine secretion;IMP|GO:0072359;circulatory system development;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IBA|GO:0031461;cullin-RING ubiquitin ligase complex;IPI|GO:0031462;Cul2-RING ubiquitin ligase complex;IPI|GO:0031463;Cul3-RING ubiquitin ligase complex;IPI|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IPI	GO:0005171;hepatocyte growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0055105;ubiquitin-protein transferase inhibitor activity;IGI	http://www.genecards.org/index.php?path=/Search/keyword/GLMN		https://hpo.jax.org/app/browse/search?q=GLMN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601749	http://www.informatics.jax.org/searchtool/Search.do?query=GLMN&submit=Quick%0D%13587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLMN	rs35752451	0.61881	0.45	0.5242	1	0	0	intronic	intronic	intronic	GLMN	GLMN	ENSG00000174842	Na	Na	Na	Na	Na	Na	Het;-AA	719;13|19	Hom;-AA	1577;0|36
N	N	-	1	92729446	92729446	C	T	snp	intronic	 	 	 	 	GLMN	Glmn	ENSG00000174842	glomulin, FKBP associated protein	chr1:92711959-92764544	This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]	GLOMUVENOUS MALFORMATIONS	Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0001570;vasculogenesis;IMP|GO:0001843;neural tube closure;IEA|GO:0031397;negative regulation of protein ubiquitination;IEA|GO:0032434;regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042130;negative regulation of T cell proliferation;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042692;muscle cell differentiation;IMP|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IMP|GO:0050715;positive regulation of cytokine secretion;IMP|GO:0072359;circulatory system development;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IBA|GO:0031461;cullin-RING ubiquitin ligase complex;IPI|GO:0031462;Cul2-RING ubiquitin ligase complex;IPI|GO:0031463;Cul3-RING ubiquitin ligase complex;IPI|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IPI	GO:0005171;hepatocyte growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0055105;ubiquitin-protein transferase inhibitor activity;IGI	http://www.genecards.org/index.php?path=/Search/keyword/GLMN		https://hpo.jax.org/app/browse/search?q=GLMN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601749	http://www.informatics.jax.org/searchtool/Search.do?query=GLMN&submit=Quick%0D%13587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLMN	rs3103176	0.619209	0	0	1	0	0	intronic	intronic	intronic	GLMN	GLMN	ENSG00000174842	Na	Na	Na	Na	Na	Na	Het;C>T	127;3|5	Hom;C>T	353;0|12
N	N	-	1	92735359	92735359	T	C	snp	intronic	 	 	 	 	GLMN	Glmn	ENSG00000174842	glomulin, FKBP associated protein	chr1:92711959-92764544	This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]	GLOMUVENOUS MALFORMATIONS	Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0001570;vasculogenesis;IMP|GO:0001843;neural tube closure;IEA|GO:0031397;negative regulation of protein ubiquitination;IEA|GO:0032434;regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042130;negative regulation of T cell proliferation;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042692;muscle cell differentiation;IMP|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IMP|GO:0050715;positive regulation of cytokine secretion;IMP|GO:0072359;circulatory system development;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IBA|GO:0031461;cullin-RING ubiquitin ligase complex;IPI|GO:0031462;Cul2-RING ubiquitin ligase complex;IPI|GO:0031463;Cul3-RING ubiquitin ligase complex;IPI|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IPI	GO:0005171;hepatocyte growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0055105;ubiquitin-protein transferase inhibitor activity;IGI	http://www.genecards.org/index.php?path=/Search/keyword/GLMN		https://hpo.jax.org/app/browse/search?q=GLMN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601749	http://www.informatics.jax.org/searchtool/Search.do?query=GLMN&submit=Quick%0D%13587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLMN	rs1487540	0.619808	0.4544	0.5443	1	0	0	intronic	intronic	intronic	GLMN	GLMN	ENSG00000174842	Na	Na	Na	Na	Na	Na	Het;T>C	135;15|8	Hom;T>C	641;0|25
N	N	-	1	92755943	92755943	G	A	snp	intronic	 	 	 	 	GLMN	Glmn	ENSG00000174842	glomulin, FKBP associated protein	chr1:92711959-92764544	This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]	GLOMUVENOUS MALFORMATIONS	Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0001570;vasculogenesis;IMP|GO:0001843;neural tube closure;IEA|GO:0031397;negative regulation of protein ubiquitination;IEA|GO:0032434;regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042130;negative regulation of T cell proliferation;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042692;muscle cell differentiation;IMP|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IMP|GO:0050715;positive regulation of cytokine secretion;IMP|GO:0072359;circulatory system development;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IBA|GO:0031461;cullin-RING ubiquitin ligase complex;IPI|GO:0031462;Cul2-RING ubiquitin ligase complex;IPI|GO:0031463;Cul3-RING ubiquitin ligase complex;IPI|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IPI	GO:0005171;hepatocyte growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0055105;ubiquitin-protein transferase inhibitor activity;IGI	http://www.genecards.org/index.php?path=/Search/keyword/GLMN		https://hpo.jax.org/app/browse/search?q=GLMN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601749	http://www.informatics.jax.org/searchtool/Search.do?query=GLMN&submit=Quick%0D%13587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLMN	rs3103178	0.73143	0	0	1	0	0	intronic	intronic	intronic	GLMN	GLMN	ENSG00000174842	Na	Na	Na	Na	Na	Na	Het;G>A	435;8|19	Hom;G>A	629;0|23
N	N	-	1	92765848	92765848	A	T	snp	intronic	 	 	 	 	RPAP2	Rpap2	ENSG00000122484	RNA polymerase II associated protein 2	chr1:92764522-92867613			 	RNA polymerase II transcribes snRNA genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009301;snRNA transcription;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0070940;dephosphorylation of RNA polymerase II C-terminal domain;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016591;DNA-directed RNA polymerase II, holoenzyme;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;EXP|GO:0005515;protein binding;IPI|GO:0008420;CTD phosphatase activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPAP2	https://www.uniprot.org/uniprot/Q8IXW5		https://www.ncbi.nlm.nih.gov/omim/?term=611476	http://www.informatics.jax.org/searchtool/Search.do?query=RPAP2&submit=Quick%0D%5417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP2	rs1542685	0.619609	0.4479	0.5231	1	0	0	intronic	intronic	intronic	RPAP2	RPAP2	ENSG00000122484	Na	Na	Na	Na	Na	Na	Het;A>T	1194;19|50	Hom;A>T	2422;0|86
N	N	-	1	92941357	92941357	A	G	snp	UTR3	*229T>C	 	 	 	GFI1	Gfi1	ENSG00000162676	growth factor independent 1 transcriptional repressor	chr1:92940319-92952433	This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]	multiple sclerosis; Leukemia, Myeloid, Acute|Translocation, Genetic	Homozygotes for targeted null mutations exhibit loss of inner ear hair cells, ataxia, circling, and deafness. Mutants also show a block in granulocyte and neutrophil maturation, and are hypersensitive to endotoxin stimulation.		GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010956;negative regulation of calcidiol 1-monooxygenase activity;IDA|GO:0010957;negative regulation of vitamin D biosynthetic process;IC|GO:0010977;negative regulation of neuron projection development;IDA|GO:0016032;viral process;TAS|GO:0030097;hemopoiesis;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;ISS|GO:0034121;regulation of toll-like receptor signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0070105;positive regulation of interleukin-6-mediated signaling pathway;IDA|GO:0071222;cellular response to lipopolysaccharide;IEP	GO:0005634;nucleus;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GFI1		https://hpo.jax.org/app/browse/search?q=GFI1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600871	http://www.informatics.jax.org/searchtool/Search.do?query=GFI1&submit=Quick%0D%10767ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GFI1	rs4970714	0.808307	0	0	1	0	0	UTR3	UTR3	UTR3	GFI1(NM_001127216:c.*229T>C,NM_001127215:c.*229T>C,NM_005263:c.*229T>C)	GFI1(uc001dou.4:c.*229T>C,uc001dov.4:c.*229T>C,uc001dow.4:c.*229T>C)	ENSG00000162676(ENST00000427103:c.*229T>C,ENST00000370332:c.*229T>C,ENST00000294702:c.*229T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	313;26|18	Hom;A>G	1127;0|40
N	N	-	1	92979331	92979331	A	G	snp	nonsynonymous SNV	T2315C	V772A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EVI5	Evi5	ENSG00000067208	ecotropic viral integration site 5	chr1:92974253-93257961		Multiple Sclerosis; Cholesterol; multiple sclerosis	 		GO:0006886;intracellular protein transport;IBA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0031338;regulation of vesicle fusion;IBA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0051301;cell division;IEA|GO:0090630;activation of GTPase activity;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA	GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EVI5	https://www.uniprot.org/uniprot/O60447		https://www.ncbi.nlm.nih.gov/omim/?term=602942	http://www.informatics.jax.org/searchtool/Search.do?query=EVI5&submit=Quick%0D%1248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EVI5	rs147173044	0	0.0011	0.0007	0.00	0	13	exonic	exonic	exonic	EVI5	EVI5	ENSG00000067208	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	EVI5:NM_005665:exon18:c.T2315C:p.V772A,	EVI5:uc001dox.3:exon18:c.T2315C:p.V772A,EVI5:uc010otf.2:exon19:c.T2348C:p.V783A,	ENSG00000067208:ENST00000540033:exon18:c.T2315C:p.V772A,ENSG00000067208:ENST00000543509:exon19:c.T2348C:p.V783A,ENSG00000067208:ENST00000370331:exon18:c.T2315C:p.V772A,	Het;A>G	1006;60|48	Hom;A>G	1577;2|59
N	N	-	1	93163385	93163385	A	G	snp	intronic	 	 	 	 	EVI5	Evi5	ENSG00000067208	ecotropic viral integration site 5	chr1:92974253-93257961		Multiple Sclerosis; Cholesterol; multiple sclerosis	 		GO:0006886;intracellular protein transport;IBA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0031338;regulation of vesicle fusion;IBA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0051301;cell division;IEA|GO:0090630;activation of GTPase activity;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA	GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EVI5	https://www.uniprot.org/uniprot/O60447		https://www.ncbi.nlm.nih.gov/omim/?term=602942	http://www.informatics.jax.org/searchtool/Search.do?query=EVI5&submit=Quick%0D%1248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EVI5	rs7418336	0.709065	0.601	0.6838	1	0	0	intronic	intronic	intronic	EVI5	EVI5	ENSG00000067208	Na	Na	Na	Na	Na	Na	Het;A>G	218;35|13	Hom;A>G	1247;0|47
N	N	-	1	93306317	93306317	G	A	snp	synonymous SNV	G318A	A106A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RPL5	Rpl5	ENSG00000122406	ribosomal protein L5	chr1:93297582-93307481	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Diamond-Blackfan anemia; Anemia, Diamond-Blackfan|Diamond-Blackfan anemia; multiple sclerosis; Schizophrenia	Mice homozygous die by E11 to E12.	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000027;ribosomal large subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;TAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0019083;viral transcription;TAS|GO:0042273;ribosomal large subunit biogenesis;IMP|GO:0045727;positive regulation of translation;IDA|GO:0050821;protein stabilization;IMP|GO:1904667;negative regulation of ubiquitin protein ligase activity;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:2000435;negative regulation of protein neddylation;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;TAS|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;TAS|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0003735;structural constituent of ribosome;TAS|GO:0005515;protein binding;IPI|GO:0008097;5S rRNA binding;IDA|GO:0019843;rRNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0048027;mRNA 5'-UTR binding;IDA|GO:1990948;ubiquitin ligase inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPL5	https://www.uniprot.org/uniprot/P46777	https://hpo.jax.org/app/browse/search?q=RPL5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603634	http://www.informatics.jax.org/searchtool/Search.do?query=RPL5&submit=Quick%0D%5408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL5	rs10874744	0.691893	0.5691	0.6770	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	SNORA66	RPL5	ENSG00000207523	Na	synonymous SNV	Na	Na	RPL5:uc001dpd.3:exon3:c.G318A:p.A106A,	Na	Het;G>A	1929;106|93	Hom;G>A	5243;1|196
N	N	-	1	93619296	93619296	A	G	snp	UTR3	*931T>C	 	 	 	TMED5	Tmed5	ENSG00000117500	transmembrane p24 trafficking protein 5	chr1:93615299-93646285			 	WNT ligand biogenesis and trafficking	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0090161;Golgi ribbon formation;IMP	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0070971;endoplasmic reticulum exit site;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMED5	https://www.uniprot.org/uniprot/Q9Y3A6		https://www.ncbi.nlm.nih.gov/omim/?term=616876	http://www.informatics.jax.org/searchtool/Search.do?query=TMED5&submit=Quick%0D%4886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMED5	rs1064797	0.0852636	0	0	1	0	0	UTR3	UTR3	UTR3	TMED5(NM_001167830:c.*1088T>C,NM_016040:c.*931T>C)	TMED5(uc001dpo.3:c.*1088T>C,uc001dpn.3:c.*931T>C)	ENSG00000117500(ENST00000370282:c.*931T>C,ENST00000370290:c.*1329T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	724;36|31	Hom;A>G	1725;1|58
N	N	-	1	93649111	93649111	G	A	snp	intronic	 	 	 	 	CCDC18	Ccdc18	ENSG00000122483	coiled-coil domain containing 18	chr1:93645476-93744287			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC18	https://www.uniprot.org/uniprot/Q5T9S5			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18	rs17131709	0.0840655	0	0	1	0	0	intronic	intronic	intronic	CCDC18	CCDC18	ENSG00000122483	Na	Na	Na	Na	Na	Na	Het;G>A	616;16|26	Hom;G>A	1275;0|46
N	N	-	1	93672688	93672688	C	T	snp	synonymous SNV	C942T	N314N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CCDC18	Ccdc18	ENSG00000122483	coiled-coil domain containing 18	chr1:93645476-93744287			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC18	https://www.uniprot.org/uniprot/Q5T9S5			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18	rs2783499	0.232228	0.1699	0.2193	1	0	0	exonic	exonic	exonic	CCDC18	CCDC18	ENSG00000122483	synonymous SNV	synonymous SNV	synonymous SNV	CCDC18:NM_206886:exon9:c.C942T:p.N314N,	CCDC18:uc021opx.1:exon9:c.C942T:p.N314N,	ENSG00000122483:ENST00000401026:exon9:c.C942T:p.N314N,ENSG00000122483:ENST00000455267:exon2:c.C102T:p.N34N,ENSG00000122483:ENST00000557479:exon9:c.C1296T:p.N432N,ENSG00000122483:ENST00000343253:exon9:c.C942T:p.N314N,ENSG00000122483:ENST00000338949:exon9:c.C339T:p.N113N,	Het;C>T	521;16|23	Hom;C>T	1476;0|58
N	N	-	1	93683210	93683210	A	G	snp	intronic	 	 	 	 	CCDC18	Ccdc18	ENSG00000122483	coiled-coil domain containing 18	chr1:93645476-93744287			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC18	https://www.uniprot.org/uniprot/Q5T9S5			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18	rs624131	0.508187	0	0	1	0	0	intronic	intronic	intronic	CCDC18	CCDC18	ENSG00000122483	Na	Na	Na	Na	Na	Na	Het;A>G	130;2|6	Hom;A>G	107;0|4
N	N	-	1	93687091	93687091	G	T	snp	intronic	 	 	 	 	CCDC18	Ccdc18	ENSG00000122483	coiled-coil domain containing 18	chr1:93645476-93744287			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC18	https://www.uniprot.org/uniprot/Q5T9S5			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18	rs797661	0.484425	0	0	1	0	0	intronic	intronic	intronic	CCDC18	CCDC18	ENSG00000122483	Na	Na	Na	Na	Na	Na	Het;G>T	68;5|4	Hom;G>T	535;0|17
N	N	-	1	93702119	93702119	A	T	snp	intronic	 	 	 	 	CCDC18	Ccdc18	ENSG00000122483	coiled-coil domain containing 18	chr1:93645476-93744287			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC18	https://www.uniprot.org/uniprot/Q5T9S5			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18	rs797672	0.484026	0	0	1	0	0	intronic	intronic	intronic	CCDC18	CCDC18	ENSG00000122483	Na	Na	Na	Na	Na	Na	Het;A>T	58;3|3	Hom;A>T	119;0|4
N	N	-	1	93704793	93704794	CT	C	indel	intronic	 	 	 	 	CCDC18	Ccdc18	ENSG00000122483	coiled-coil domain containing 18	chr1:93645476-93744287			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC18	https://www.uniprot.org/uniprot/Q5T9S5			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18	rs397980841	0.485224	0	0	1	0	0	intronic	intronic	intronic	CCDC18	CCDC18	ENSG00000122483	Na	Na	Na	Na	Na	Na	Het;-T	71;8|6	Hom;-T	172;0|8
N	N	-	1	93720070	93720070	C	G	snp	nonsynonymous SNV	C3241G	L1081V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCDC18	Ccdc18	ENSG00000122483	coiled-coil domain containing 18	chr1:93645476-93744287			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC18	https://www.uniprot.org/uniprot/Q5T9S5			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18	rs12030843	0.232228	0.1702	0.2110	0.46	6	13	exonic	exonic	exonic	CCDC18	CCDC18	ENSG00000122483	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CCDC18:NM_206886:exon24:c.C3241G:p.L1081V,	CCDC18:uc021opx.1:exon24:c.C3241G:p.L1081V,	ENSG00000122483:ENST00000401026:exon24:c.C3241G:p.L1081V,ENSG00000122483:ENST00000557479:exon24:c.C3595G:p.L1199V,ENSG00000122483:ENST00000343253:exon24:c.C3238G:p.L1080V,	Het;C>G	249;12|13	Hom;C>G	600;0|21
N	N	-	1	94343233	94343233	T	C	snp	synonymous SNV	A258G	E86E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	DNTTIP2	Dnttip2	ENSG00000067334	deoxynucleotidyltransferase terminal interacting protein 2	chr1:94333373-94345474	This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]	Bone Mineral Density	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNTTIP2	https://www.uniprot.org/uniprot/Q5QJE6		https://www.ncbi.nlm.nih.gov/omim/?term=611199	http://www.informatics.jax.org/searchtool/Search.do?query=DNTTIP2&submit=Quick%0D%1252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNTTIP2	rs3789457	0.759185	0.7256	0.7170	1	0	0	exonic	exonic	exonic	DNTTIP2	DNTTIP2	ENSG00000067334	synonymous SNV	synonymous SNV	synonymous SNV	DNTTIP2:NM_014597:exon2:c.A258G:p.E86E,	DNTTIP2:uc001dqf.3:exon2:c.A258G:p.E86E,	ENSG00000067334:ENST00000359208:exon2:c.A258G:p.E86E,ENSG00000067334:ENST00000436063:exon2:c.A258G:p.E86E,ENSG00000067334:ENST00000528680:exon2:c.A279G:p.E93E,	Het;T>C	1639;89|72	Hom;T>C	4305;0|144
N	N	-	1	94344580	94344580	C	A	snp	intronic	 	 	 	 	DNTTIP2	Dnttip2	ENSG00000067334	deoxynucleotidyltransferase terminal interacting protein 2	chr1:94333373-94345474	This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]	Bone Mineral Density	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNTTIP2	https://www.uniprot.org/uniprot/Q5QJE6		https://www.ncbi.nlm.nih.gov/omim/?term=611199	http://www.informatics.jax.org/searchtool/Search.do?query=DNTTIP2&submit=Quick%0D%1252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNTTIP2	rs6675820	0.329673	0.3693	0	1	0	0	intronic	intronic	intronic	DNTTIP2	DNTTIP2	ENSG00000067334	Na	Na	Na	Na	Na	Na	Het;C>A	912;16|40	Hom;C>A	1249;0|45
N	N	-	1	94360107	94360107	C	A	snp	intronic	 	 	 	 	GCLM	Gclm	ENSG00000023909	glutamate-cysteine ligase modifier subunit	chr1:94350761-94374966	Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]	atherosclerosis, coronary; Glomerulonephritis, IGA; Coronary Disease; body burden of methylmercury; Type 2 Diabetes| edema | rosiglitazone; arsnic exposure; 2-thiothiazolidine-4-carboxylic acid levels; schizophrenia; Atherosclerosis|Diabetes Complications|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myocardial Infarction; myocardial infarction; Asthma; immunologic markers among vulcanization workers ; chronic obstructive pulmonary disease/COPD; Atherosclerosis|Carotid Artery Diseases|Diabetes Mellitus, Type 2|; cognitive impairment, vascular stroke, ischemic; methylmercury retention; atherosclerosis; Pulmonary Disease, Chronic Obstructive; metabolic syndrome; berylliosis; lung cancer; Kidney Failure, Chronic; Schizophrenia	Mice homozygous for one null allele demonstrate increased sensitivity to acetaminophen-induced hepatotoxicity and mice homozygous for another null allele exhibit increased cellular sensitivity to hydrogen peroxide.	Glutathione synthesis and recycling	GO:0006534;cysteine metabolic process;IEA|GO:0006536;glutamate metabolic process;IDA|GO:0006749;glutathione metabolic process;IEA|GO:0006750;glutathione biosynthetic process;TAS|GO:0006979;response to oxidative stress;IDA|GO:0007568;aging;IEA|GO:0007584;response to nutrient;IEA|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0014823;response to activity;IEA|GO:0035229;positive regulation of glutamate-cysteine ligase activity;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IEA|GO:0035733;hepatic stellate cell activation;IEA|GO:0042493;response to drug;IDA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0044752;response to human chorionic gonadotropin;IEA|GO:0050880;regulation of blood vessel size;IMP|GO:0051409;response to nitrosative stress;IEA|GO:0051900;regulation of mitochondrial depolarization;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IEA|GO:0097069;cellular response to thyroxine stimulus;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0005829;cytosol;TAS|GO:0017109;glutamate-cysteine ligase complex;IEA	GO:0004357;glutamate-cysteine ligase activity;IEA|GO:0030234;enzyme regulator activity;IBA|GO:0035226;glutamate-cysteine ligase catalytic subunit binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCLM	https://www.uniprot.org/uniprot/P48507		https://www.ncbi.nlm.nih.gov/omim/?term=601176	http://www.informatics.jax.org/searchtool/Search.do?query=GCLM&submit=Quick%0D%692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCLM	rs769211	0.21905	0	0	1	0	0	intronic	intronic	intronic	GCLM	GCLM	ENSG00000023909	Na	Na	Na	Na	Na	Na	Het;C>A	664;16|24	Hom;C>A	676;0|21
N	N	-	1	94367097	94367097	G	A	snp	intronic	 	 	 	 	GCLM	Gclm	ENSG00000023909	glutamate-cysteine ligase modifier subunit	chr1:94350761-94374966	Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]	atherosclerosis, coronary; Glomerulonephritis, IGA; Coronary Disease; body burden of methylmercury; Type 2 Diabetes| edema | rosiglitazone; arsnic exposure; 2-thiothiazolidine-4-carboxylic acid levels; schizophrenia; Atherosclerosis|Diabetes Complications|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myocardial Infarction; myocardial infarction; Asthma; immunologic markers among vulcanization workers ; chronic obstructive pulmonary disease/COPD; Atherosclerosis|Carotid Artery Diseases|Diabetes Mellitus, Type 2|; cognitive impairment, vascular stroke, ischemic; methylmercury retention; atherosclerosis; Pulmonary Disease, Chronic Obstructive; metabolic syndrome; berylliosis; lung cancer; Kidney Failure, Chronic; Schizophrenia	Mice homozygous for one null allele demonstrate increased sensitivity to acetaminophen-induced hepatotoxicity and mice homozygous for another null allele exhibit increased cellular sensitivity to hydrogen peroxide.	Glutathione synthesis and recycling	GO:0006534;cysteine metabolic process;IEA|GO:0006536;glutamate metabolic process;IDA|GO:0006749;glutathione metabolic process;IEA|GO:0006750;glutathione biosynthetic process;TAS|GO:0006979;response to oxidative stress;IDA|GO:0007568;aging;IEA|GO:0007584;response to nutrient;IEA|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0014823;response to activity;IEA|GO:0035229;positive regulation of glutamate-cysteine ligase activity;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IEA|GO:0035733;hepatic stellate cell activation;IEA|GO:0042493;response to drug;IDA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0044752;response to human chorionic gonadotropin;IEA|GO:0050880;regulation of blood vessel size;IMP|GO:0051409;response to nitrosative stress;IEA|GO:0051900;regulation of mitochondrial depolarization;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IEA|GO:0097069;cellular response to thyroxine stimulus;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0005829;cytosol;TAS|GO:0017109;glutamate-cysteine ligase complex;IEA	GO:0004357;glutamate-cysteine ligase activity;IEA|GO:0030234;enzyme regulator activity;IBA|GO:0035226;glutamate-cysteine ligase catalytic subunit binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCLM	https://www.uniprot.org/uniprot/P48507		https://www.ncbi.nlm.nih.gov/omim/?term=601176	http://www.informatics.jax.org/searchtool/Search.do?query=GCLM&submit=Quick%0D%692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCLM	rs7515191	0.420727	0.4619	0.3645	1	0	0	intronic	intronic	intronic	GCLM	GCLM	ENSG00000023909	Na	Na	Na	Na	Na	Na	Het;G>A	217;13|10	Hom;G>A	936;0|34
N	N	-	1	94516985	94516985	A	C	snp	intronic	 	 	 	 	ABCA4	Abca4	ENSG00000198691	ATP binding cassette subfamily A member 4	chr1:94458393-94586688	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]	Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; cone-rod dystrophy macular dystrophy retinitis pigmentosa; Chronic renal failure|Kidney Failure, Chronic; Blind Vision|Blindness|Retinal Diseases; macular degeneration; Carcinoma, Squamous Cell|Esophageal Neoplasms; maculopathy; Macular Degeneration; Body Height; Late-onset Stargardt disease; Tunica Media; age-related maculopathy.; atherosclerosis; Eye Diseases, Hereditary|Macular Degeneration|Retinal Degeneration; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; cone-rod dystrophy; Retinal Diseases; Toxoplasmosis, Congenital; cone-rod dystrophy; retinitis pigmentosa; Retinitis Pigmentosa; Stargardt disease; Retinal Degeneration; Cleft Lip|Cleft Palate; Tobacco Use Disorder; Echocardiography; fibrin fragment D; Diabetes Mellitus, Type 2; Macular Degeneration|Vision, Low; macular degeneration; Stargardt disease; Coronary Artery Disease	Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.	ABC-family proteins mediated transport	GO:0001523;retinoid metabolic process;TAS|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;TAS|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;TAS|GO:0045332;phospholipid translocation;IDA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;TAS	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097381;photoreceptor disc membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005215;transporter activity;TAS|GO:0005395;eye pigment precursor transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0005548;phospholipid transporter activity;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090555;phosphatidylethanolamine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA4		https://hpo.jax.org/app/browse/search?q=ABCA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601691	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA4&submit=Quick%0D%16963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA4	rs1191231	0.222843	0	0	1	0	0	intronic	intronic	intronic	ABCA4	ABCA4	ENSG00000198691	Na	Na	Na	Na	Na	Na	Het;A>C	98;7|4	Hom;A>C	125;0|4
N	N	-	1	94544135	94544135	A	AC	indel	intronic	 	 	 	 	ABCA4	Abca4	ENSG00000198691	ATP binding cassette subfamily A member 4	chr1:94458393-94586688	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]	Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; cone-rod dystrophy macular dystrophy retinitis pigmentosa; Chronic renal failure|Kidney Failure, Chronic; Blind Vision|Blindness|Retinal Diseases; macular degeneration; Carcinoma, Squamous Cell|Esophageal Neoplasms; maculopathy; Macular Degeneration; Body Height; Late-onset Stargardt disease; Tunica Media; age-related maculopathy.; atherosclerosis; Eye Diseases, Hereditary|Macular Degeneration|Retinal Degeneration; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; cone-rod dystrophy; Retinal Diseases; Toxoplasmosis, Congenital; cone-rod dystrophy; retinitis pigmentosa; Retinitis Pigmentosa; Stargardt disease; Retinal Degeneration; Cleft Lip|Cleft Palate; Tobacco Use Disorder; Echocardiography; fibrin fragment D; Diabetes Mellitus, Type 2; Macular Degeneration|Vision, Low; macular degeneration; Stargardt disease; Coronary Artery Disease	Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.	ABC-family proteins mediated transport	GO:0001523;retinoid metabolic process;TAS|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;TAS|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;TAS|GO:0045332;phospholipid translocation;IDA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;TAS	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097381;photoreceptor disc membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005215;transporter activity;TAS|GO:0005395;eye pigment precursor transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0005548;phospholipid transporter activity;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090555;phosphatidylethanolamine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA4		https://hpo.jax.org/app/browse/search?q=ABCA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601691	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA4&submit=Quick%0D%16963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA4	rs281865386	0	0.7241	0.7369	1	0	0	intronic	intronic	intronic	ABCA4	ABCA4	ENSG00000198691	Na	Na	Na	Na	Na	Na	Het;+C	51;8|4	Hom;+C	86;0|3
N	N	-	1	94544234	94544234	T	C	snp	nonsynonymous SNV	A1268G	H423R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ABCA4	Abca4	ENSG00000198691	ATP binding cassette subfamily A member 4	chr1:94458393-94586688	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]	Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; cone-rod dystrophy macular dystrophy retinitis pigmentosa; Chronic renal failure|Kidney Failure, Chronic; Blind Vision|Blindness|Retinal Diseases; macular degeneration; Carcinoma, Squamous Cell|Esophageal Neoplasms; maculopathy; Macular Degeneration; Body Height; Late-onset Stargardt disease; Tunica Media; age-related maculopathy.; atherosclerosis; Eye Diseases, Hereditary|Macular Degeneration|Retinal Degeneration; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; cone-rod dystrophy; Retinal Diseases; Toxoplasmosis, Congenital; cone-rod dystrophy; retinitis pigmentosa; Retinitis Pigmentosa; Stargardt disease; Retinal Degeneration; Cleft Lip|Cleft Palate; Tobacco Use Disorder; Echocardiography; fibrin fragment D; Diabetes Mellitus, Type 2; Macular Degeneration|Vision, Low; macular degeneration; Stargardt disease; Coronary Artery Disease	Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.	ABC-family proteins mediated transport	GO:0001523;retinoid metabolic process;TAS|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;TAS|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;TAS|GO:0045332;phospholipid translocation;IDA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;TAS	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097381;photoreceptor disc membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005215;transporter activity;TAS|GO:0005395;eye pigment precursor transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0005548;phospholipid transporter activity;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090555;phosphatidylethanolamine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA4		https://hpo.jax.org/app/browse/search?q=ABCA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601691	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA4&submit=Quick%0D%16963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA4	rs3112831	0.220847	0.2606	0.2553	0.31	4	13	exonic	exonic	exonic	ABCA4	ABCA4	ENSG00000198691	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	ABCA4:NM_000350:exon10:c.A1268G:p.H423R,	ABCA4:uc010otn.1:exon10:c.A1268G:p.H423R,ABCA4:uc001dqh.3:exon10:c.A1268G:p.H423R,	ENSG00000198691:ENST00000370225:exon10:c.A1268G:p.H423R,ENSG00000198691:ENST00000535735:exon10:c.A1268G:p.H423R,	Het;T>C	453;38|27	Hom;T>C	1822;0|71
N	N	-	1	94549029	94549029	A	G	snp	intronic	 	 	 	 	ABCA4	Abca4	ENSG00000198691	ATP binding cassette subfamily A member 4	chr1:94458393-94586688	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]	Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; cone-rod dystrophy macular dystrophy retinitis pigmentosa; Chronic renal failure|Kidney Failure, Chronic; Blind Vision|Blindness|Retinal Diseases; macular degeneration; Carcinoma, Squamous Cell|Esophageal Neoplasms; maculopathy; Macular Degeneration; Body Height; Late-onset Stargardt disease; Tunica Media; age-related maculopathy.; atherosclerosis; Eye Diseases, Hereditary|Macular Degeneration|Retinal Degeneration; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; cone-rod dystrophy; Retinal Diseases; Toxoplasmosis, Congenital; cone-rod dystrophy; retinitis pigmentosa; Retinitis Pigmentosa; Stargardt disease; Retinal Degeneration; Cleft Lip|Cleft Palate; Tobacco Use Disorder; Echocardiography; fibrin fragment D; Diabetes Mellitus, Type 2; Macular Degeneration|Vision, Low; macular degeneration; Stargardt disease; Coronary Artery Disease	Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.	ABC-family proteins mediated transport	GO:0001523;retinoid metabolic process;TAS|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;TAS|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;TAS|GO:0045332;phospholipid translocation;IDA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;TAS	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097381;photoreceptor disc membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005215;transporter activity;TAS|GO:0005395;eye pigment precursor transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0005548;phospholipid transporter activity;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090555;phosphatidylethanolamine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA4		https://hpo.jax.org/app/browse/search?q=ABCA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601691	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA4&submit=Quick%0D%16963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA4	rs526016	0.197684	0.2449	0.2461	1	0	0	intronic	intronic	intronic	ABCA4	ABCA4	ENSG00000198691	Na	Na	Na	Na	Na	Na	Het;A>G	565;34|28	Hom;A>G	1821;0|69
N	N	-	1	94549083	94549083	T	C	snp	intronic	 	 	 	 	ABCA4	Abca4	ENSG00000198691	ATP binding cassette subfamily A member 4	chr1:94458393-94586688	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]	Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; cone-rod dystrophy macular dystrophy retinitis pigmentosa; Chronic renal failure|Kidney Failure, Chronic; Blind Vision|Blindness|Retinal Diseases; macular degeneration; Carcinoma, Squamous Cell|Esophageal Neoplasms; maculopathy; Macular Degeneration; Body Height; Late-onset Stargardt disease; Tunica Media; age-related maculopathy.; atherosclerosis; Eye Diseases, Hereditary|Macular Degeneration|Retinal Degeneration; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; cone-rod dystrophy; Retinal Diseases; Toxoplasmosis, Congenital; cone-rod dystrophy; retinitis pigmentosa; Retinitis Pigmentosa; Stargardt disease; Retinal Degeneration; Cleft Lip|Cleft Palate; Tobacco Use Disorder; Echocardiography; fibrin fragment D; Diabetes Mellitus, Type 2; Macular Degeneration|Vision, Low; macular degeneration; Stargardt disease; Coronary Artery Disease	Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.	ABC-family proteins mediated transport	GO:0001523;retinoid metabolic process;TAS|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;TAS|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;TAS|GO:0045332;phospholipid translocation;IDA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;TAS	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097381;photoreceptor disc membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005215;transporter activity;TAS|GO:0005395;eye pigment precursor transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0005548;phospholipid transporter activity;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090555;phosphatidylethanolamine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA4		https://hpo.jax.org/app/browse/search?q=ABCA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601691	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA4&submit=Quick%0D%16963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA4	rs574741	0.745407	0	0	1	0	0	intronic	intronic	intronic	ABCA4	ABCA4	ENSG00000198691	Na	Na	Na	Na	Na	Na	Het;T>C	254;12|10	Hom;T>C	607;0|20
N	N	-	1	9486033	9486033	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100506022																		rs66663433	0.175519	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC100506022	SPSB1(dist=56443),5S_rRNA(dist=11695)	ENSG00000171621(dist=56442),ENSG00000252956(dist=11695)	Na	Na	Na	Na	Na	Na	Het;G>A	1362;96|70	Hom;G>A	4375;2|156
N	N	-	1	9486622	9486622	C	A	snp	ncRNA_exonic	 	 	 	 	LOC100506022																		rs67798200	0.179712	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC100506022	SPSB1(dist=57032),5S_rRNA(dist=11106)	ENSG00000171621(dist=57031),ENSG00000252956(dist=11106)	Na	Na	Na	Na	Na	Na	Het;C>A	2828;155|134	Hom;C>A	7993;4|293
N	N	-	1	948870	948870	C	G	snp	UTR5	-84C>G	 	 	 	ISG15	Isg15	ENSG00000187608	ISG15 ubiquitin-like modifier	chr1:948803-949920	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]	Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Syncytial Virus Infections; ovarian cancer	Homozygous null mice are viable and fertile and do not display immunological abnormalities.	Negative regulators of DDX58/IFIH1 signaling	GO:0002376;immune system process;IEA|GO:0016032;viral process;IEA|GO:0019941;modification-dependent protein catabolic process;IEA|GO:0019985;translesion synthesis;TAS|GO:0030501;positive regulation of bone mineralization;IEA|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032649;regulation of interferon-gamma production;IMP|GO:0034340;response to type I interferon;IDA|GO:0042742;defense response to bacterium;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0031386;protein tag;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG15		https://hpo.jax.org/app/browse/search?q=ISG15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147571	http://www.informatics.jax.org/searchtool/Search.do?query=ISG15&submit=Quick%0D%15854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG15	rs4615788	0.902955	0.8898	0	1	0	0	UTR5	UTR5	UTR5	ISG15(NM_005101:c.-84C>G)	ISG15(uc001acj.4:c.-84C>G)	ENSG00000187608(ENST00000379389:c.-84C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	52;6|3	Hom;C>G	635;0|19
N	N	-	1	9489161	9489161	A	T	snp	upstream	 	 	 	 	LOC100506022																		rs11121410	0.205272	0	0	1	0	0	upstream	intergenic	intergenic	LOC100506022	SPSB1(dist=59571),5S_rRNA(dist=8567)	ENSG00000171621(dist=59570),ENSG00000252956(dist=8567)	Na	Na	Na	Na	Na	Na	Het;A>T	207;14|9	Hom;A>T	716;0|23
N	N	-	1	948921	948921	T	C	snp	UTR5	-33T>C	 	 	 	ISG15	Isg15	ENSG00000187608	ISG15 ubiquitin-like modifier	chr1:948803-949920	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]	Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Syncytial Virus Infections; ovarian cancer	Homozygous null mice are viable and fertile and do not display immunological abnormalities.	Negative regulators of DDX58/IFIH1 signaling	GO:0002376;immune system process;IEA|GO:0016032;viral process;IEA|GO:0019941;modification-dependent protein catabolic process;IEA|GO:0019985;translesion synthesis;TAS|GO:0030501;positive regulation of bone mineralization;IEA|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032649;regulation of interferon-gamma production;IMP|GO:0034340;response to type I interferon;IDA|GO:0042742;defense response to bacterium;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0031386;protein tag;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG15		https://hpo.jax.org/app/browse/search?q=ISG15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147571	http://www.informatics.jax.org/searchtool/Search.do?query=ISG15&submit=Quick%0D%15854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG15	rs15842	0.903155	0.8858	0.9416	1	0	0	UTR5	UTR5	UTR5	ISG15(NM_005101:c.-33T>C)	ISG15(uc001acj.4:c.-33T>C)	ENSG00000187608(ENST00000379389:c.-33T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	432;12|19	Hom;T>C	1035;0|38
N	N	-	1	94924046	94924046	A	G	snp	intronic	 	 	 	 	ABCD3	Abcd3	ENSG00000117528	ATP binding cassette subfamily D member 3	chr1:94883933-94984222	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null mutation show enlarged livers, abnormal bile composition and peroxisome abnormalities.	ABC transporters in lipid homeostasis	GO:0006633;fatty acid biosynthetic process;IMP|GO:0006635;fatty acid beta-oxidation;IGI|GO:0006810;transport;IEA|GO:0007031;peroxisome organization;IDA|GO:0014070;response to organic cyclic compound;IEA|GO:0015910;peroxisomal long-chain fatty acid import;IEA|GO:0042493;response to drug;IEA|GO:0042760;very long-chain fatty acid catabolic process;IGI|GO:0055085;transmembrane transport;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005782;peroxisomal matrix;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005324;long-chain fatty acid transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABCD3	https://www.uniprot.org/uniprot/P28288	https://hpo.jax.org/app/browse/search?q=ABCD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=170995	http://www.informatics.jax.org/searchtool/Search.do?query=ABCD3&submit=Quick%0D%4892ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCD3	rs2147794	0.275759	0	0	1	0	0	intronic	intronic	intronic	ABCD3	ABCD3	ENSG00000117528	Na	Na	Na	Na	Na	Na	Het;A>G	307;1|10	Hom;A>G	476;0|14
N	N	-	1	949654	949654	A	G	snp	synonymous SNV	A294G	V98V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ISG15	Isg15	ENSG00000187608	ISG15 ubiquitin-like modifier	chr1:948803-949920	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]	Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Syncytial Virus Infections; ovarian cancer	Homozygous null mice are viable and fertile and do not display immunological abnormalities.	Negative regulators of DDX58/IFIH1 signaling	GO:0002376;immune system process;IEA|GO:0016032;viral process;IEA|GO:0019941;modification-dependent protein catabolic process;IEA|GO:0019985;translesion synthesis;TAS|GO:0030501;positive regulation of bone mineralization;IEA|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032649;regulation of interferon-gamma production;IMP|GO:0034340;response to type I interferon;IDA|GO:0042742;defense response to bacterium;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0031386;protein tag;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG15		https://hpo.jax.org/app/browse/search?q=ISG15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147571	http://www.informatics.jax.org/searchtool/Search.do?query=ISG15&submit=Quick%0D%15854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG15	rs8997	0.825679	0.8204	0.9122	1	0	0	exonic	exonic	exonic	ISG15	ISG15	ENSG00000187608	synonymous SNV	synonymous SNV	synonymous SNV	ISG15:NM_005101:exon2:c.A294G:p.V98V,	ISG15:uc001acj.4:exon2:c.A294G:p.V98V,	ENSG00000187608:ENST00000379389:exon2:c.A294G:p.V98V,	Het;A>G	1926;101|86	Hom;A>G	4910;0|170
N	N	-	1	949925	949925	C	T	snp	downstream	 	 	 	 	ISG15	Isg15	ENSG00000187608	ISG15 ubiquitin-like modifier	chr1:948803-949920	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]	Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Syncytial Virus Infections; ovarian cancer	Homozygous null mice are viable and fertile and do not display immunological abnormalities.	Negative regulators of DDX58/IFIH1 signaling	GO:0002376;immune system process;IEA|GO:0016032;viral process;IEA|GO:0019941;modification-dependent protein catabolic process;IEA|GO:0019985;translesion synthesis;TAS|GO:0030501;positive regulation of bone mineralization;IEA|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032649;regulation of interferon-gamma production;IMP|GO:0034340;response to type I interferon;IDA|GO:0042742;defense response to bacterium;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0031386;protein tag;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG15		https://hpo.jax.org/app/browse/search?q=ISG15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147571	http://www.informatics.jax.org/searchtool/Search.do?query=ISG15&submit=Quick%0D%15854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG15	rs2799070	0.872804	0	0	1	0	0	downstream	downstream	downstream	ISG15	ISG15	ENSG00000187608	Na	Na	Na	Na	Na	Na	Het;C>T	350;23|19	Hom;C>T	864;0|29
N	N	-	1	950716	950716	A	T	snp	downstream	 	 	 	 	ISG15	Isg15	ENSG00000187608	ISG15 ubiquitin-like modifier	chr1:948803-949920	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]	Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Respiratory Syncytial Virus Infections; ovarian cancer	Homozygous null mice are viable and fertile and do not display immunological abnormalities.	Negative regulators of DDX58/IFIH1 signaling	GO:0002376;immune system process;IEA|GO:0016032;viral process;IEA|GO:0019941;modification-dependent protein catabolic process;IEA|GO:0019985;translesion synthesis;TAS|GO:0030501;positive regulation of bone mineralization;IEA|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032649;regulation of interferon-gamma production;IMP|GO:0034340;response to type I interferon;IDA|GO:0042742;defense response to bacterium;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0031386;protein tag;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISG15		https://hpo.jax.org/app/browse/search?q=ISG15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147571	http://www.informatics.jax.org/searchtool/Search.do?query=ISG15&submit=Quick%0D%15854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISG15	rs2799069	0.919728	0	0	1	0	0	downstream	downstream	downstream	ISG15	ISG15	ENSG00000187608	Na	Na	Na	Na	Na	Na	Het;A>T	42;2|3	Hom;A>T	206;0|9
N	N	-	1	95286658	95286658	C	A	snp	intronic	 	 	 	 	SLC44A3	Slc44a3	ENSG00000143036	solute carrier family 44 member 3	chr1:95285898-95360802		Lipoproteins; Mental Competency; Fibrinogen; Iron; Tobacco Use Disorder	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A3	https://www.uniprot.org/uniprot/Q8N4M1			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A3&submit=Quick%0D%8356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A3	rs6676991	0.556909	0.5865	0.6260	1	0	0	intronic	intronic	intronic	SLC44A3	SLC44A3	ENSG00000143036	Na	Na	Na	Na	Na	Na	Het;C>A	1099;66|52	Hom;C>A	3508;0|128
N	N	-	1	95286675	95286688	GTCCCAAATGTAAA	G	indel	intronic	 	 	 	 	SLC44A3	Slc44a3	ENSG00000143036	solute carrier family 44 member 3	chr1:95285898-95360802		Lipoproteins; Mental Competency; Fibrinogen; Iron; Tobacco Use Disorder	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A3	https://www.uniprot.org/uniprot/Q8N4M1			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A3&submit=Quick%0D%8356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A3	rs11274910	0.556709	0	0	1	0	0	intronic	intronic	intronic	SLC44A3	SLC44A3	ENSG00000143036	Na	Na	Na	Na	Na	Na	Het;-TCCCAAATGTAAA	1617;48|44	Hom;-TCCCAAATGTAAA	4161;0|96
N	N	-	1	95290003	95290003	C	T	snp	intronic	 	 	 	 	SLC44A3	Slc44a3	ENSG00000143036	solute carrier family 44 member 3	chr1:95285898-95360802		Lipoproteins; Mental Competency; Fibrinogen; Iron; Tobacco Use Disorder	 	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0015220;choline transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC44A3	https://www.uniprot.org/uniprot/Q8N4M1			http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A3&submit=Quick%0D%8356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A3	rs6687749	0.557109	0.5983	0.6009	1	0	0	intronic	intronic	intronic	SLC44A3	SLC44A3	ENSG00000143036	Na	Na	Na	Na	Na	Na	Het;C>T	571;20|26	Hom;C>T	1026;0|37
N	N	-	1	95630252	95630252	A	C	snp	ncRNA_exonic	 	 	 	 	LOC101928118																		rs11165327	0.363818	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101928118	AK090700	ENSG00000226026	Na	Na	Na	Na	Na	Na	Het;A>C	1022;69|48	Hom;A>C	2345;0|87
N	N	-	1	95630621	95630621	T	A	snp	ncRNA_exonic	 	 	 	 	LOC101928118																		rs11165329	0.363818	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101928118	AK090700	ENSG00000226026	Na	Na	Na	Na	Na	Na	Het;T>A	1141;72|60	Hom;T>A	3443;1|126
N	N	-	1	96471768	96471768	T	A	snp	ncRNA_exonic	 	 	 	 	LOC102723661																		rs321249	0.416733	0	0	1	0	0	ncRNA_exonic	intergenic	intronic	LOC102723661	BC067883(dist=490748),7SK(dist=689644)	ENSG00000237435	Na	Na	Na	Na	Na	Na	Het;T>A	379;20|18	Hom;T>A	823;2|33
N	N	-	1	96471975	96471975	A	T	snp	ncRNA_exonic	 	 	 	 	LOC102723661																		rs321248	0.436102	0	0	1	0	0	ncRNA_exonic	intergenic	intronic	LOC102723661	BC067883(dist=490955),7SK(dist=689437)	ENSG00000237435	Na	Na	Na	Na	Na	Na	Het;A>T	890;46|43	Hom;A>T	2870;2|111
N	N	-	1	96884330	96884330	C	T	snp	ncRNA_exonic	 	 	 	 	UBE2WP1																		rs17115225	0.357228	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101928241(dist=44649),PTBP2(dist=302831)	BC067883(dist=903310),7SK(dist=277082)	ENSG00000234422	Na	Na	Na	Na	Na	Na	Het;C>T	476;30|23	Hom;C>T	1576;0|57
N	N	-	1	96886167	96886167	G	A	snp	intergenic	 	 	 	 	UBE2WP1																		rs17131755	0.356829	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928241(dist=46486),PTBP2(dist=300994)	BC067883(dist=905147),7SK(dist=275245)	ENSG00000234422(dist=1678),ENSG00000228502(dist=26319)	Na	Na	Na	Na	Na	Na	Het;G>A	560;39|29	Hom;G>A	1348;0|51
N	N	-	1	96989786	96989786	A	G	snp	intergenic	 	 	 	 	EEF1A1P11																		rs1988854	0.328275	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928241(dist=150105),PTBP2(dist=197375)	BC067883(dist=1008766),7SK(dist=171626)	ENSG00000228502(dist=75912),ENSG00000241992(dist=58979)	Na	Na	Na	Na	Na	Na	Het;A>G	279;12|13	Hom;A>G	947;0|35
N	N	-	1	970549	970552	TGGG	T	indel	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs540588706	0.997204	0	0	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;-GGG	164;3|5	Hom;-GGG	54;0|2
N	N	-	1	97700589	97700589	C	T	snp	ncRNA_intronic	 	 	 	 	DPYD-AS1																		rs12137711	0.0880591	0.0875	0.1176	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DPYD-AS1	DPYD-AS1	ENSG00000232878	Na	Na	Na	Na	Na	Na	Het;C>T	1305;61|58	Hom;C>T	3496;0|123
N	N	-	1	977330	977330	T	C	snp	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs2799066	0.885184	0.8526	0.9166	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;T>C	694;53|37	Hom;T>C	2382;0|85
N	N	-	1	977570	977570	G	A	snp	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs2710876	0.794129	0.7741	0.8946	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;G>A	646;12|26	Hom;G>A	510;0|17
N	N	-	1	981087	981087	A	G	snp	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs3128098	0.869409	0.8321	0.9128	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;A>G	1071;21|38	Hom;A>G	1769;0|56
N	N	-	1	981931	981931	A	G	snp	synonymous SNV	A3066G	S1022S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs2465128	0.797724	0.7802	0.8767	1	0	0	exonic	exonic	exonic	AGRN	AGRN	ENSG00000188157	synonymous SNV	synonymous SNV	synonymous SNV	AGRN:NM_198576:exon18:c.A3066G:p.S1022S,	AGRN:uc001ack.2:exon18:c.A3066G:p.S1022S,	ENSG00000188157:ENST00000379370:exon18:c.A3066G:p.S1022S,	Het;A>G	1598;67|72	Hom;A>G	3274;0|118
N	N	-	1	982444	982444	A	G	snp	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs3128099	0.821885	0	0	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;A>G	64;8|3	Hom;A>G	280;0|9
N	N	-	1	982941	982941	T	C	snp	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs3128102	0.79992	0.7666	0.8859	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;T>C	2721;144|124	Hom;T>C	5321;2|192
N	N	-	1	982994	982994	T	C	snp	synonymous SNV	T3558C	F1186F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs10267	0.835863	0.7912	0.8989	1	0	0	exonic	exonic	exonic	AGRN	AGRN	ENSG00000188157	synonymous SNV	synonymous SNV	synonymous SNV	AGRN:NM_198576:exon21:c.T3558C:p.F1186F,	AGRN:uc001ack.2:exon21:c.T3558C:p.F1186F,	ENSG00000188157:ENST00000379370:exon21:c.T3558C:p.F1186F,	Het;T>C	3040;139|138	Hom;T>C	6091;0|207
N	N	-	1	98676367	98676367	G	A	snp	ncRNA_splicing	 	 	 	 	LINC01776																		rs12097515	0.373602	0	0	1	0	0	ncRNA_splicing	ncRNA_splicing	ncRNA_splicing	LOC729987(NR_046088:exon1:c.100+1G>A)	LOC729987(uc031pnf.1:exon1:c.100+1G>A)	ENSG00000226053(ENST00000418344:exon1:c.64+1G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1381;80|67	Hom;G>A	3054;0|114
N	N	-	1	987200	987200	C	T	snp	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs9803031	0.788738	0.7569	0.8757	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;C>T	1210;57|53	Hom;C>T	3597;0|128
N	N	-	1	988932	988932	G	C	snp	intronic	 	 	 	 	AGRN	Agrn	ENSG00000188157	agrin	chr1:955503-991496	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]	Autism; Body Mass Index	Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0043113;receptor clustering;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0045162;clustering of voltage-gated sodium channels;TAS|GO:0045887;positive regulation of synaptic growth at neuromuscular junction;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050808;synapse organization;TAS|GO:0051491;positive regulation of filopodium assembly;ISS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005605;basal lamina;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0002162;dystroglycan binding;ISS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0033691;sialic acid binding;ISS|GO:0035374;chondroitin sulfate binding;ISS|GO:0043236;laminin binding;TAS|GO:0043395;heparan sulfate proteoglycan binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AGRN		https://hpo.jax.org/app/browse/search?q=AGRN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=103320	http://www.informatics.jax.org/searchtool/Search.do?query=AGRN&submit=Quick%0D%15976ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGRN	rs2710871	0.775359	0	0	1	0	0	intronic	intronic	intronic	AGRN	AGRN	ENSG00000188157	Na	Na	Na	Na	Na	Na	Het;G>C	713;37|37	Hom;G>C	1924;1|73
N	N	-	1	990417	990417	T	C	snp	ncRNA_exonic	 	 	 	 	AL645608.6																		rs2465136	0.383986	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	AGRN(NM_198576:c.*56T>C,NM_001305275:c.*56T>C)	AGRN(uc001ack.2:c.*56T>C)	ENSG00000242590	Na	Na	Na	Na	Na	Na	Het;T>C	351;10|17	Hom;T>C	314;0|12
N	N	-	20	10414950	10414950	A	T	snp	upstream	 	 	 	 	MKKS	Mkks	ENSG00000125863	McKusick-Kaufman syndrome	chr20:10381657-10414870	This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]	metabolic syndrome obesity; obesity; metabolic syndrome; Type 2 Diabetes| edema | rosiglitazone; adiposity; Retinal Diseases	Homozygous null mice display partial embryonic lethality, retinal degeneration, obesity, increased food intake, hypoactivity, increased blood pressure, male infertility with the absence of flagella on spermatozoa, decreased aggression, and impaired olfaction but, do not display limb deformities.	BBSome-mediated cargo-targeting to cilium	GO:0001947;heart looping;ISS|GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007286;spermatid development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0007507;heart development;TAS|GO:0007601;visual perception;IEA|GO:0007608;sensory perception of smell;IEA|GO:0008406;gonad development;TAS|GO:0010629;negative regulation of gene expression;IEA|GO:0014824;artery smooth muscle contraction;IEA|GO:0021756;striatum development;IEA|GO:0021766;hippocampus development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0032402;melanosome transport;ISS|GO:0033210;leptin-mediated signaling pathway;IEA|GO:0034260;negative regulation of GTPase activity;IEA|GO:0035176;social behavior;IEA|GO:0038108;negative regulation of appetite by leptin-mediated signaling pathway;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042311;vasodilation;IEA|GO:0044321;response to leptin;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0046907;intracellular transport;ISS|GO:0048854;brain morphogenesis;IEA|GO:0050896;response to stimulus;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0051131;chaperone-mediated protein complex assembly;IEA|GO:0051216;cartilage development;IEA|GO:0051492;regulation of stress fiber assembly;IEA|GO:0051877;pigment granule aggregation in cell center;ISS|GO:0060027;convergent extension involved in gastrulation;ISS|GO:0060271;cilium assembly;IEA|GO:0060296;regulation of cilium beat frequency involved in ciliary motility;IEA|GO:0060324;face development;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:1905515;non-motile cilium assembly;IEA	GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:1902636;kinociliary basal body;IEA	GO:0000166;nucleotide binding;IEA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0044183;protein binding involved in protein folding;IBA|GO:0051082;unfolded protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MKKS	https://www.uniprot.org/uniprot/Q9NPJ1	https://hpo.jax.org/app/browse/search?q=MKKS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604896	http://www.informatics.jax.org/searchtool/Search.do?query=MKKS&submit=Quick%0D%5861ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MKKS	rs2013178	0.289337	0	0	1	0	0	upstream	upstream	upstream	MKKS	MKKS	ENSG00000125863	Na	Na	Na	Na	Na	Na	Het;A>T	578;2|24	Hom;A>T	425;0|17
N	N	-	20	10623035	10623036	CT	C	indel	intronic	 	 	 	 	JAG1	Jag1	ENSG00000101384	jagged 1	chr20:10625847-10627014	The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein.  Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch.  Mutations that alter the jagged 1 protein cause Alagille syndrome.  Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]	Neurobehavioral Manifestations; Alzheimer's disease ; Alagille Syndrome|paucity of interlobular bile ducts (PILBD)|Pulmonary Valve Stenosis|Tetralogy of Fallot; Type 2 Diabetes| edema | rosiglitazone; multiple sclerosis; Cleft Lip|Cleft Palate; Bone Density; Hepatitis C|Remission, Spontaneous; renal function and chronic kidney disease; Alagille syndrome; Tetralogy of Fallot; Cholesterol, LDL; Prostatic Neoplasms; tetralogy of Fallot; leukoencephalopathy; Bone Mineral Density	Homozygous null mutants exhibit extensive hemorrhaging and die prior to embryonic day 11.5, while heterozygotes exhibit defects of the eye.  Heterozygotes for missense mutations have inner ear abnormalities. Other mutant mice display abnormal head movements.	RUNX3 regulates NOTCH signaling	GO:0001525;angiogenesis;NAS|GO:0001709;cell fate determination;NAS|GO:0001974;blood vessel remodeling;IEA|GO:0002011;morphogenesis of an epithelial sheet;IEA|GO:0002456;T cell mediated immunity;IMP|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003215;cardiac right ventricle morphogenesis;IEA|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0030097;hemopoiesis;NAS|GO:0030216;keratinocyte differentiation;NAS|GO:0030334;regulation of cell migration;NAS|GO:0032495;response to muramyl dipeptide;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0042127;regulation of cell proliferation;NAS|GO:0042491;auditory receptor cell differentiation;IEA|GO:0043010;camera-type eye development;IEA|GO:0045445;myoblast differentiation;NAS|GO:0045446;endothelial cell differentiation;NAS|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IEA|GO:0045639;positive regulation of myeloid cell differentiation;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048839;inner ear development;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0061073;ciliary body morphogenesis;IEA|GO:0061156;pulmonary artery morphogenesis;IMP|GO:0061309;cardiac neural crest cell development involved in outflow tract morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IC|GO:0061444;endocardial cushion cell development;IEA|GO:0072006;nephron development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0072017;distal tubule development;IEA|GO:0072070;loop of Henle development;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:2000737;negative regulation of stem cell differentiation;IMP	GO:0005576;extracellular region;NAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005912;adherens junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0045177;apical part of cell;IEA	GO:0005112;Notch binding;IPI|GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IMP|GO:0008083;growth factor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/JAG1	https://www.uniprot.org/uniprot/P78504	https://hpo.jax.org/app/browse/search?q=JAG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601920	http://www.informatics.jax.org/searchtool/Search.do?query=JAG1&submit=Quick%0D%2725ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG1	rs3830830	0.427716	0	0	1	0	0	intronic	intronic	intronic	JAG1	JAG1	ENSG00000101384	Na	Na	Na	Na	Na	Na	Het;-T	775;4|31	Hom;-T	1135;0|31
N	N	-	20	10875387	10875387	C	G	snp	ncRNA_exonic	 	 	 	 	LOC101929413																		rs6040226	0.454073	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929413	JAG1(dist=220693),7SK(dist=160870)	ENSG00000232900	Na	Na	Na	Na	Na	Na	Het;C>G	1535;89|71	Hom;C>G	4791;0|177
N	N	-	20	11039845	11039845	G	A	snp	intergenic	 	 	 	 	C20orf187	 																	rs451992	0.828075	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101929413(dist=149925),LOC339593(dist=207462)	7SK(dist=3352),LOC339593(dist=207462)	ENSG00000125899(dist=29831),ENSG00000230990(dist=174973)	Na	Na	Na	Na	Na	Na	Het;G>A	131;1|5	Hom;G>A	117;0|4
N	N	-	20	11040002	11040002	C	T	snp	intergenic	 	 	 	 	C20orf187	 																	rs398911	0.82508	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101929413(dist=150082),LOC339593(dist=207305)	7SK(dist=3509),LOC339593(dist=207305)	ENSG00000125899(dist=29988),ENSG00000230990(dist=174816)	Na	Na	Na	Na	Na	Na	Het;C>T	219;15|13	Hom;C>T	703;0|27
N	N	-	20	11248314	11248316	ATG	A	indel	ncRNA_exonic	 	 	 	 	LOC339593																		rs146266788	0	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_intronic	LOC339593	LOC339593(uc002wnx.4:c.*896_*894delinsT)	ENSG00000230990	Na	Na	Na	Na	Na	Na	Het;-TG	3436;83|130	Hom;-TG	4974;6|207
N	N	-	20	11248580	11248580	C	G	snp	ncRNA_exonic	 	 	 	 	LOC339593																		rs6033077	0.76278	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_intronic	LOC339593	LOC339593(uc002wnx.4:c.*630G>C)	ENSG00000230990	Na	Na	Na	Na	Na	Na	Het;C>G	1213;35|52	Hom;C>G	2604;0|90
N	N	-	20	11790885	11790885	C	CTT	indel	ncRNA_exonic;splicing	 	 	 	 	ENSG00000228422																		rs3036550	0.619609	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic;splicing	LINC00687	LOC339593(dist=536854),BTBD3(dist=80592)	ENSG00000228422;ENSG00000256874(ENST00000544332:exon2:c.210+1G>AAG,ENST00000544332:exon2:c.211-1G>AAG)	Na	Na	Na	Na	Na	Na	Het;+TT	2813;76|76	Hom;+TT	5387;1|126
N	N	-	20	11791008	11791008	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00687																		rs803665	0.947684	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00687	LOC339593(dist=536977),BTBD3(dist=80469)	ENSG00000228422,ENSG00000256874	Na	Na	Na	Na	Na	Na	Het;C>T	1961;83|92	Hom;C>T	4837;2|182
N	N	-	20	11820967	11820967	C	T	snp	ncRNA_intronic	 	 	 	 	LINC00687																		rs803868	0.658546	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC00687	LOC339593(dist=566936),BTBD3(dist=50510)	ENSG00000228422	Na	Na	Na	Na	Na	Na	Het;C>T	338;21|15	Hom;C>T	710;0|25
N	N	-	20	11821257	11821257	G	A	snp	ncRNA_intronic	 	 	 	 	LINC00687																		rs803869	0.668331	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC00687	LOC339593(dist=567226),BTBD3(dist=50220)	ENSG00000228422	Na	Na	Na	Na	Na	Na	Het;G>A	132;2|5	Hom;G>A	149;0|5
N	N	-	20	11851347	11851347	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00687																		rs803879	0.691294	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00687	LOC339593(dist=597316),BTBD3(dist=20130)	ENSG00000228422	Na	Na	Na	Na	Na	Na	Het;C>T	940;57|49	Hom;C>T	2224;0|86
N	N	-	20	126310	126312	ACC	A	indel	frameshift substitution	313_315A	 	 	 	DEFB126		ENSG00000125788	defensin beta 126	chr20:123010-126392	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014]	Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma		Defensins	GO:0006952;defense response;IEA|GO:0007338;single fertilization;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB126	https://www.uniprot.org/uniprot/Q9BYW3			http://www.informatics.jax.org/searchtool/Search.do?query=DEFB126&submit=Quick%0D%5835ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB126	rs11467417	0	0.5662	0.5534	1	0	0	exonic	exonic	exonic	DEFB126	DEFB126	ENSG00000125788	frameshift substitution	frameshift substitution	unknown	DEFB126:NM_030931:exon2:c.313_315A,	DEFB126:uc002wcx.3:exon2:c.313_315A,	UNKNOWN	Het;-CC	811;49|24	Hom;-CC	2226;0|51
N	N	-	20	1291076	1291076	G	C	snp	ncRNA_exonic	 	 	 	 	FKBP1A-SDCBP2																		rs1048628	0.631789	0.4768	0.5820	1	0	0	ncRNA_exonic	UTR3	UTR3	FKBP1A-SDCBP2	FKBP1A-SDCBP2(uc021vzo.1:c.*9C>G),SDCBP2(uc002weu.4:c.*9C>G,uc021vzn.1:c.*9C>G,uc002wev.4:c.*9C>G)	ENSG00000125775(ENST00000360779:c.*9C>G,ENST00000339987:c.*9C>G,ENST00000381812:c.*9C>G,ENST00000381808:c.*9C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	428;41|23	Hom;G>C	1607;2|60
N	N	-	20	1293008	1293008	C	T	snp	synonymous SNV	G705A	V235V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FKBP1A-SDCBP2																		rs2273958	0.665335	0.5243	0.6033	1	0	0	exonic	exonic	exonic	SDCBP2	FKBP1A-SDCBP2,SDCBP2	ENSG00000125775	synonymous SNV	synonymous SNV	unknown	SDCBP2:NM_080489:exon7:c.G705A:p.V235V,SDCBP2:NM_015685:exon3:c.G450A:p.V150V,SDCBP2:NM_001199784:exon7:c.G705A:p.V235V,	SDCBP2:uc021vzn.1:exon7:c.G705A:p.V235V,FKBP1A-SDCBP2:uc021vzo.1:exon8:c.G705A:p.V235V,SDCBP2:uc002wev.4:exon7:c.G705A:p.V235V,SDCBP2:uc002weu.4:exon3:c.G450A:p.V150V,	UNKNOWN	Het;C>T	615;26|26	Hom;C>T	829;0|30
N	N	-	20	1293536	1293536	A	G	snp	UTR3	*358T>C	 	 	 	SDCBP2	Sdcbp2	ENSG00000125775	syndecan binding protein 2	chr20:1290619-1309883	The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]	Potassium	 		GO:0007399;nervous system development;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0046907;intracellular transport;NAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IC|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SDCBP2	https://www.uniprot.org/uniprot/Q9H190		https://www.ncbi.nlm.nih.gov/omim/?term=617358	http://www.informatics.jax.org/searchtool/Search.do?query=SDCBP2&submit=Quick%0D%5831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDCBP2	rs2281711	0.710863	0	0	1	0	0	ncRNA_intronic	UTR3	intronic	FKBP1A-SDCBP2	SDCBP2(uc010zpq.2:c.*358T>C)	ENSG00000125775	Na	Na	Na	Na	Na	Na	Het;A>G	43;1|2	Hom;A>G	332;0|10
N	N	-	20	12989901	12989901	T	C	snp	UTR5	-15T>C	 	 	 	SPTLC3	Sptlc3	ENSG00000172296	serine palmitoyltransferase long chain base subunit 3	chr20:12989627-13147411	The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]	Personality; normal variation; Tobacco Use Disorder; sphingolipid concentrations; Type 2 Diabetes| edema | rosiglitazone	 	Sphingolipid de novo biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0046520;sphingoid biosynthetic process;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017059;serine C-palmitoyltransferase complex;IDA	GO:0003824;catalytic activity;IEA|GO:0004758;serine C-palmitoyltransferase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPTLC3			https://www.ncbi.nlm.nih.gov/omim/?term=611120	http://www.informatics.jax.org/searchtool/Search.do?query=SPTLC3&submit=Quick%0D%13124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTLC3	rs3761896	0.217452	0.1814	0.2521	1	0	0	UTR5	UTR5	UTR5	SPTLC3(NM_018327:c.-15T>C)	SPTLC3(uc002woc.3:c.-15T>C,uc002wod.1:c.-15T>C)	ENSG00000172296(ENST00000434210:c.-15T>C,ENST00000399002:c.-15T>C,ENST00000378194:c.-15T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	306;17|15	Hom;T>C	980;0|33
N	N	-	20	12990057	12990057	T	A	snp	intronic	 	 	 	 	SPTLC3	Sptlc3	ENSG00000172296	serine palmitoyltransferase long chain base subunit 3	chr20:12989627-13147411	The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]	Personality; normal variation; Tobacco Use Disorder; sphingolipid concentrations; Type 2 Diabetes| edema | rosiglitazone	 	Sphingolipid de novo biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0046520;sphingoid biosynthetic process;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017059;serine C-palmitoyltransferase complex;IDA	GO:0003824;catalytic activity;IEA|GO:0004758;serine C-palmitoyltransferase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPTLC3			https://www.ncbi.nlm.nih.gov/omim/?term=611120	http://www.informatics.jax.org/searchtool/Search.do?query=SPTLC3&submit=Quick%0D%13124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTLC3	rs3761894	0.222045	0.1849	0.2528	1	0	0	intronic	intronic	intronic	SPTLC3	SPTLC3	ENSG00000172296	Na	Na	Na	Na	Na	Na	Het;T>A	421;25|23	Hom;T>A	1631;0|62
N	N	-	20	1423533	1423533	A	T	snp	UTR3	*861T>A	 	 	 	NSFL1C	Nsfl1c	ENSG00000088833	NSFL1 cofactor	chr20:1422807-1454487	N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]		 		GO:0007030;Golgi organization;IBA|GO:0031468;nuclear envelope reassembly;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0061025;membrane fusion;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:1990730;VCP-NSFL1C complex;ISS	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA|GO:0043130;ubiquitin binding;IBA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NSFL1C	https://www.uniprot.org/uniprot/Q9UNZ2		https://www.ncbi.nlm.nih.gov/omim/?term=606610	http://www.informatics.jax.org/searchtool/Search.do?query=NSFL1C&submit=Quick%0D%2017ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NSFL1C	rs3210915	0.682907	0	0	1	0	0	UTR3	UTR3	UTR3	NSFL1C(NM_001206736:c.*861T>A,NM_016143:c.*861T>A,NM_018839:c.*861T>A)	NSFL1C(uc002wfc.3:c.*861T>A,uc021vzq.1:c.*861T>A,uc002wfe.3:c.*861T>A,uc031rsc.1:c.*861T>A)	ENSG00000088833(ENST00000216879:c.*861T>A,ENST00000476071:c.*861T>A,ENST00000555944:c.*1673T>A,ENST00000353088:c.*861T>A,ENST00000381658:c.*861T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	1069;42|46	Hom;A>T	2205;0|75
N	N	-	20	1423848	1423848	G	T	snp	UTR3	*546C>A	 	 	 	NSFL1C	Nsfl1c	ENSG00000088833	NSFL1 cofactor	chr20:1422807-1454487	N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]		 		GO:0007030;Golgi organization;IBA|GO:0031468;nuclear envelope reassembly;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0061025;membrane fusion;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:1990730;VCP-NSFL1C complex;ISS	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA|GO:0043130;ubiquitin binding;IBA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NSFL1C	https://www.uniprot.org/uniprot/Q9UNZ2		https://www.ncbi.nlm.nih.gov/omim/?term=606610	http://www.informatics.jax.org/searchtool/Search.do?query=NSFL1C&submit=Quick%0D%2017ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NSFL1C	rs13063	0.614617	0	0	1	0	0	UTR3	UTR3	UTR3	NSFL1C(NM_001206736:c.*546C>A,NM_016143:c.*546C>A,NM_018839:c.*546C>A)	NSFL1C(uc002wfc.3:c.*546C>A,uc021vzq.1:c.*546C>A,uc002wfe.3:c.*546C>A,uc031rsc.1:c.*546C>A)	ENSG00000088833(ENST00000216879:c.*546C>A,ENST00000476071:c.*546C>A,ENST00000555944:c.*1358C>A,ENST00000353088:c.*546C>A,ENST00000381658:c.*546C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1155;74|59	Hom;G>T	2830;2|105
N	N	-	20	1423909	1423909	C	T	snp	UTR3	*485G>A	 	 	 	NSFL1C	Nsfl1c	ENSG00000088833	NSFL1 cofactor	chr20:1422807-1454487	N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]		 		GO:0007030;Golgi organization;IBA|GO:0031468;nuclear envelope reassembly;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0061025;membrane fusion;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:1990730;VCP-NSFL1C complex;ISS	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA|GO:0043130;ubiquitin binding;IBA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NSFL1C	https://www.uniprot.org/uniprot/Q9UNZ2		https://www.ncbi.nlm.nih.gov/omim/?term=606610	http://www.informatics.jax.org/searchtool/Search.do?query=NSFL1C&submit=Quick%0D%2017ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NSFL1C	rs3171292	0.614617	0	0	1	0	0	UTR3	UTR3	UTR3	NSFL1C(NM_001206736:c.*485G>A,NM_016143:c.*485G>A,NM_018839:c.*485G>A)	NSFL1C(uc002wfc.3:c.*485G>A,uc021vzq.1:c.*485G>A,uc002wfe.3:c.*485G>A,uc031rsc.1:c.*485G>A)	ENSG00000088833(ENST00000216879:c.*485G>A,ENST00000476071:c.*485G>A,ENST00000555944:c.*1297G>A,ENST00000353088:c.*485G>A,ENST00000381658:c.*485G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1182;86|58	Hom;C>T	2686;1|99
N	N	-	20	15874189	15874189	A	T	snp	ncRNA_exonic	 	 	 	 	LOC613266																		rs6080011	0.443291	0	0	1	0	0	ncRNA_exonic	UTR3	intronic	LOC613266	AK125594(uc002wpc.3:c.*94T>A)	ENSG00000172264	Na	Na	Na	Na	Na	Na	Het;A>T	1780;84|78	Hom;A>T	3393;1|120
N	N	-	20	15967327	15967327	A	G	snp	intronic	 	 	 	 	MACROD2	Macrod2	ENSG00000172264	MACRO domain containing 2	chr20:13976015-16033842		Blood Pressure; Cholesterol; Schizophrenia; Abnormalities, Multiple|Mental Retardation|Syndrome; Lipoproteins; null; Celiac Disease|; Coronary Artery Disease; Echocardiography; Tobacco Use Disorder; Platelet Count; Myocardial Infarction; Aorta; Body Weight Changes; Hip; Erythrocytes; Urinalysis; Autistic Disorder; Obesity; autism; Hematocrit; Arteries; Parkinson Disease; Alcoholism; Nonalcoholic Fatty Liver Disease; Waist-Hip Ratio; Amyotrophic Lateral Sclerosis|	Mice homozygous for a knock-out allele are viable, healthy and overtly normal and show no significant changes in irradiation-induced lethality, high fat diet-induced obesity, or response to glucose or insulin challenge relative to wild-type controls.		GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007420;brain development;IEA|GO:0042278;purine nucleoside metabolic process;IDA|GO:0051725;protein de-ADP-ribosylation;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA	GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IDA|GO:0019213;deacetylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MACROD2			https://www.ncbi.nlm.nih.gov/omim/?term=611567	http://www.informatics.jax.org/searchtool/Search.do?query=MACROD2&submit=Quick%0D%13118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MACROD2	rs34675181	0.371206	0.387	0.4701	1	0	0	intronic	intronic	intronic	MACROD2	MACROD2	ENSG00000172264	Na	Na	Na	Na	Na	Na	Het;A>G	41;6|4	Hom;A>G	771;0|28
N	N	-	20	1727927	1727927	T	C	snp	intergenic	 	 	 	 	AL109809.2																		rs565075	0.733027	0	0	1	0	0	intergenic	intergenic	intergenic	SIRPG(dist=89502),LOC100289473(dist=26084)	SIRPG(dist=89502),LOC100289473(dist=26084)	ENSG00000234282(dist=24744),ENSG00000271461(dist=9475)	Na	Na	Na	Na	Na	Na	Het;T>C	77;3|3	Hom;T>C	185;0|5
N	N	-	20	1727964	1727964	T	C	snp	intergenic	 	 	 	 	AL109809.2																		rs564402	0.733027	0	0	1	0	0	intergenic	intergenic	intergenic	SIRPG(dist=89539),LOC100289473(dist=26047)	SIRPG(dist=89539),LOC100289473(dist=26047)	ENSG00000234282(dist=24781),ENSG00000271461(dist=9438)	Na	Na	Na	Na	Na	Na	Het;T>C	31;2|2	Hom;T>C	112;0|4
N	N	-	20	17462150	17462150	C	T	snp	intronic	 	 	 	 	PCSK2	Pcsk2	ENSG00000125851	proprotein convertase subtilisin/kexin type 2	chr20:17206752-17465223	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]	smoking cessation; hypertension; Cholesterol, HDL; Tobacco Use Disorder; Biochemical measures; Fibrinogen; diabetes, type 2; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Alzheimer's disease ; Kidney Diseases; Obesity; Stroke; normal variation; Carotid Artery Diseases; Diabetes Mellitus, Type 2	Mice homozygous for disruptions of this gene display abnormalities in the maturation of peptide hormones leading to reduced female fertility, increased blood pressure on a high salt diet, and abnormal glucose metabolism.	Insulin processing	GO:0006508;proteolysis;IDA|GO:0007399;nervous system development;IEA|GO:0016485;protein processing;IEA|GO:0016486;peptide hormone processing;IEA|GO:0016540;protein autoprocessing;IEA|GO:0030070;insulin processing;IDA|GO:0034230;enkephalin processing;ISS|GO:0034231;islet amyloid polypeptide processing;ISS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;IEA|GO:0030141;secretory granule;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004175;endopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032403;protein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCSK2	https://www.uniprot.org/uniprot/P16519		https://www.ncbi.nlm.nih.gov/omim/?term=162151	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK2&submit=Quick%0D%5859ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK2	rs11907226	0.236621	0	0	1	0	0	intronic	intronic	intronic	PCSK2	PCSK2	ENSG00000125851	Na	Na	Na	Na	Na	Na	Het;C>T	58;12|5	Hom;C>T	332;0|10
N	N	-	20	1759398	1759398	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100289473																		rs202555	0.477037	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100289473	LOC100289473	ENSG00000232528	Na	Na	Na	Na	Na	Na	Het;G>A	1116;55|51	Hom;G>A	3061;2|111
N	N	-	20	18359512	18359512	T	C	snp	upstream	 	 	 	 	LINC00851																		rs2300804	0.832069	0	0	1	0	0	upstream	upstream	upstream	LINC00851	LINC00851	ENSG00000237282	Na	Na	Na	Na	Na	Na	Het;T>C	86;1|3	Hom;T>C	297;0|8
N	N	-	20	18361603	18361603	T	C	snp	nonsynonymous SNV	T89C	L30P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	LINC00851																		rs1883938	0.796326	0	0.8419	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LINC00851	LINC00851	ENSG00000237282	Na	nonsynonymous SNV	Na	Na	LINC00851:uc021wbc.1:exon2:c.T89C:p.L30P,	Na	Het;T>C	813;45|38	Hom;T>C	2149;0|77
N	N	-	20	18362176	18362176	C	T	snp	downstream	 	 	 	 	LINC00851																		rs2328292	0.790535	0	0	1	0	0	downstream	downstream	downstream	LINC00851	LINC00851	ENSG00000237282	Na	Na	Na	Na	Na	Na	Het;C>T	585;34|28	Hom;C>T	1257;0|47
N	N	-	20	18362297	18362297	C	T	snp	downstream	 	 	 	 	LINC00851																		rs2328293	0.790935	0	0	1	0	0	downstream	downstream	downstream	LINC00851	LINC00851	ENSG00000237282	Na	Na	Na	Na	Na	Na	Het;C>T	119;5|5	Hom;C>T	113;0|4
N	N	-	20	18364964	18364964	A	G	snp	UTR3	*1544T>C	 	 	 	DZANK1	Dzank1	ENSG00000089091	double zinc ribbon and ankyrin repeat domains 1	chr20:18364011-18447925	This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are viable.				GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZANK1	https://www.uniprot.org/uniprot/Q9NVP4			http://www.informatics.jax.org/searchtool/Search.do?query=DZANK1&submit=Quick%0D%2041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZANK1	rs36048101	0.305711	0	0	1	0	0	UTR3	UTR3	UTR3	DZANK1(NM_001099407:c.*79T>C)	DZANK1(uc010zrz.2:c.*79T>C,uc002wqp.4:c.*79T>C,uc002wqs.4:c.*79T>C,uc002wqq.4:c.*79T>C,uc010zsa.2:c.*79T>C)	ENSG00000089091(ENST00000377630:c.*1544T>C,ENST00000357236:c.*79T>C,ENST00000329494:c.*79T>C,ENST00000262547:c.*79T>C,ENST00000358866:c.*79T>C,ENST00000608192:c.*1877T>C,ENST00000609267:c.*797T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	35;5|2	Hom;A>G	239;0|8
N	N	-	20	18393275	18393275	C	T	snp	intronic	 	 	 	 	DZANK1	Dzank1	ENSG00000089091	double zinc ribbon and ankyrin repeat domains 1	chr20:18364011-18447925	This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are viable.				GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZANK1	https://www.uniprot.org/uniprot/Q9NVP4			http://www.informatics.jax.org/searchtool/Search.do?query=DZANK1&submit=Quick%0D%2041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZANK1	rs59695827	0.289936	0.3804	0.3768	1	0	0	intronic	intronic	intronic	DZANK1	DZANK1	ENSG00000089091	Na	Na	Na	Na	Na	Na	Het;C>T	194;19|10	Hom;C>T	712;0|25
N	N	-	20	18465001	18465001	C	A	snp	UTR3	*799C>A	 	 	 	POLR3F	Polr3f	ENSG00000132664	RNA polymerase III subunit F	chr20:18447771-18465287	The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	HIV Infections|[X]Human immunodeficiency virus disease	 	RNA Polymerase III Transcription Initiation From Type 3 Promoter	GO:0002376;immune system process;IEA|GO:0006359;regulation of transcription from RNA polymerase III promoter;NAS|GO:0006383;transcription from RNA polymerase III promoter;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032728;positive regulation of interferon-beta production;IMP|GO:0045087;innate immune response;IEA|GO:0045089;positive regulation of innate immune response;IMP|GO:0051607;defense response to virus;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IDA|GO:0005829;cytosol;TAS	GO:0001056;RNA polymerase III activity;IBA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/POLR3F	https://www.uniprot.org/uniprot/Q9H1D9		https://www.ncbi.nlm.nih.gov/omim/?term=617455	http://www.informatics.jax.org/searchtool/Search.do?query=POLR3F&submit=Quick%0D%6715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR3F	rs5867	0.605631	0	0	1	0	0	UTR3	UTR3	UTR3	POLR3F(NM_001282526:c.*799C>A,NM_006466:c.*799C>A)	POLR3F(uc002wqv.3:c.*799C>A,uc002wqx.3:c.*799C>A)	ENSG00000132664(ENST00000377603:c.*799C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	1111;37|31	Hom;C>A	2906;0|67
N	N	-	20	18465004	18465004	C	G	snp	UTR3	*802C>G	 	 	 	POLR3F	Polr3f	ENSG00000132664	RNA polymerase III subunit F	chr20:18447771-18465287	The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	HIV Infections|[X]Human immunodeficiency virus disease	 	RNA Polymerase III Transcription Initiation From Type 3 Promoter	GO:0002376;immune system process;IEA|GO:0006359;regulation of transcription from RNA polymerase III promoter;NAS|GO:0006383;transcription from RNA polymerase III promoter;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032728;positive regulation of interferon-beta production;IMP|GO:0045087;innate immune response;IEA|GO:0045089;positive regulation of innate immune response;IMP|GO:0051607;defense response to virus;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IDA|GO:0005829;cytosol;TAS	GO:0001056;RNA polymerase III activity;IBA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/POLR3F	https://www.uniprot.org/uniprot/Q9H1D9		https://www.ncbi.nlm.nih.gov/omim/?term=617455	http://www.informatics.jax.org/searchtool/Search.do?query=POLR3F&submit=Quick%0D%6715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR3F	rs1133724	0.604433	0	0	1	0	0	UTR3	UTR3	UTR3	POLR3F(NM_001282526:c.*802C>G,NM_006466:c.*802C>G)	POLR3F(uc002wqv.3:c.*802C>G,uc002wqx.3:c.*802C>G)	ENSG00000132664(ENST00000377603:c.*802C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1117;35|29	Hom;C>G	2906;0|62
N	N	-	20	18477870	18477870	T	A	snp	UTR5	-59A>T	 	 	 	RBBP9	Rbbp9	ENSG00000089050	RB binding protein 9, serine hydrolase	chr20:18467184-18477887	The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]		 		GO:0042127;regulation of cell proliferation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBBP9	https://www.uniprot.org/uniprot/O75884		https://www.ncbi.nlm.nih.gov/omim/?term=602908	http://www.informatics.jax.org/searchtool/Search.do?query=RBBP9&submit=Quick%0D%2036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBBP9	rs2247757	0.772963	0	0	1	0	0	UTR5	UTR5	UTR5	RBBP9(NM_006606:c.-59A>T)	RBBP9(uc002wqy.3:c.-59A>T)	ENSG00000089050(ENST00000337227:c.-59A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	138;23|8	Hom;T>A	581;0|20
N	N	-	20	18488399	18488399	C	G	snp	UTR5	-3081C>G	 	 	 	SEC23B	Sec23b	ENSG00000101310	Sec23 homolog B, coat complex II component	chr20:18488137-18542059	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Tobacco Use Disorder	Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;TAS|GO:0030127;COPII vesicle coat;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23B	https://www.uniprot.org/uniprot/Q15437	https://hpo.jax.org/app/browse/search?q=SEC23B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610512	http://www.informatics.jax.org/searchtool/Search.do?query=SEC23B&submit=Quick%0D%2705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23B	rs4813333	0.771965	0	0	1	0	0	UTR5	UTR5	UTR5	SEC23B(NM_032985:c.-3081C>G,NM_006363:c.-3081C>G,NM_001172746:c.-3081C>G)	SEC23B(uc010zsb.2:c.-3081C>G,uc002wra.2:c.-3081C>G,uc002wqz.2:c.-3081C>G)	ENSG00000101310(ENST00000336714:c.-3081C>G,ENST00000262544:c.-3081C>G,ENST00000377475:c.-3081C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	715;26|27	Hom;C>G	2172;0|73
N	N	-	20	18505403	18505403	G	C	snp	intronic	 	 	 	 	SEC23B	Sec23b	ENSG00000101310	Sec23 homolog B, coat complex II component	chr20:18488137-18542059	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Tobacco Use Disorder	Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;TAS|GO:0030127;COPII vesicle coat;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23B	https://www.uniprot.org/uniprot/Q15437	https://hpo.jax.org/app/browse/search?q=SEC23B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610512	http://www.informatics.jax.org/searchtool/Search.do?query=SEC23B&submit=Quick%0D%2705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23B	rs3762200	0.617212	0	0	1	0	0	intronic	intronic	intronic	SEC23B	SEC23B	ENSG00000101310	Na	Na	Na	Na	Na	Na	Het;G>C	267;1|9	Hom;G>C	491;0|14
N	N	-	20	18506617	18506617	G	A	snp	intronic	 	 	 	 	SEC23B	Sec23b	ENSG00000101310	Sec23 homolog B, coat complex II component	chr20:18488137-18542059	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Tobacco Use Disorder	Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;TAS|GO:0030127;COPII vesicle coat;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23B	https://www.uniprot.org/uniprot/Q15437	https://hpo.jax.org/app/browse/search?q=SEC23B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610512	http://www.informatics.jax.org/searchtool/Search.do?query=SEC23B&submit=Quick%0D%2705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23B	rs1555353	0.253195	0.1000	0.3071	1	0	0	intronic	intronic	intronic	SEC23B	SEC23B	ENSG00000101310	Na	Na	Na	Na	Na	Na	Het;G>A	1030;69|51	Hom;G>A	2916;2|109
N	N	-	20	18511504	18511504	T	C	snp	intronic	 	 	 	 	SEC23B	Sec23b	ENSG00000101310	Sec23 homolog B, coat complex II component	chr20:18488137-18542059	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Tobacco Use Disorder	Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;TAS|GO:0030127;COPII vesicle coat;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23B	https://www.uniprot.org/uniprot/Q15437	https://hpo.jax.org/app/browse/search?q=SEC23B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610512	http://www.informatics.jax.org/searchtool/Search.do?query=SEC23B&submit=Quick%0D%2705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23B	rs3762201	0.617212	0	0	1	0	0	intronic	intronic	intronic	SEC23B	SEC23B	ENSG00000101310	Na	Na	Na	Na	Na	Na	Het;T>C	192;26|13	Hom;T>C	1905;0|66
N	N	-	20	18523864	18523864	C	T	snp	intronic	 	 	 	 	SEC23B	Sec23b	ENSG00000101310	Sec23 homolog B, coat complex II component	chr20:18488137-18542059	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Tobacco Use Disorder	Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;TAS|GO:0030127;COPII vesicle coat;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23B	https://www.uniprot.org/uniprot/Q15437	https://hpo.jax.org/app/browse/search?q=SEC23B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610512	http://www.informatics.jax.org/searchtool/Search.do?query=SEC23B&submit=Quick%0D%2705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23B	rs2295557	0.608427	0.6836	0.7077	1	0	0	intronic	intronic	intronic	SEC23B	SEC23B	ENSG00000101310	Na	Na	Na	Na	Na	Na	Het;C>T	799;36|36	Hom;C>T	1258;0|43
N	N	-	20	18529107	18529107	G	C	snp	intronic	 	 	 	 	SEC23B	Sec23b	ENSG00000101310	Sec23 homolog B, coat complex II component	chr20:18488137-18542059	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]	Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Tobacco Use Disorder	Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;TAS|GO:0030127;COPII vesicle coat;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC23B	https://www.uniprot.org/uniprot/Q15437	https://hpo.jax.org/app/browse/search?q=SEC23B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610512	http://www.informatics.jax.org/searchtool/Search.do?query=SEC23B&submit=Quick%0D%2705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC23B	rs6136406	0.617412	0	0	1	0	0	intronic	intronic	intronic	SEC23B	SEC23B	ENSG00000101310	Na	Na	Na	Na	Na	Na	Het;G>C	82;2|3	Hom;G>C	139;0|4
N	N	-	20	18548293	18548294	TC	T	indel	ncRNA_intronic	 	 	 	 	LINC00493																		rs11475009	0.252396	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LINC00493	LINC00493	ENSG00000232388	Na	Na	Na	Na	Na	Na	Het;-C	706;39|28	Hom;-C	2320;0|69
N	N	-	20	18608945	18608945	G	C	snp	intronic	 	 	 	 	DTD1	Dtd1	ENSG00000125821	D-tyrosyl-tRNA deacylase 1	chr20:18568537-18744561	The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose	 		GO:0006260;DNA replication;IEA|GO:0006399;tRNA metabolic process;IBA|GO:0006450;regulation of translational fidelity;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0002161;aminoacyl-tRNA editing activity;IEA|GO:0003677;DNA binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051499;D-aminoacyl-tRNA deacylase activity;IEA|GO:0051500;D-tyrosyl-tRNA(Tyr) deacylase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DTD1	https://www.uniprot.org/uniprot/Q8TEA8		https://www.ncbi.nlm.nih.gov/omim/?term=610996	http://www.informatics.jax.org/searchtool/Search.do?query=DTD1&submit=Quick%0D%5846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTD1	rs3818220	0.44389	0	0	1	0	0	intronic	intronic	intronic	DTD1	DTD1	ENSG00000125821	Na	Na	Na	Na	Na	Na	Het;G>C	660;12|27	Hom;G>C	786;0|24
N	N	-	20	18609016	18609016	T	C	snp	intronic	 	 	 	 	DTD1	Dtd1	ENSG00000125821	D-tyrosyl-tRNA deacylase 1	chr20:18568537-18744561	The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose	 		GO:0006260;DNA replication;IEA|GO:0006399;tRNA metabolic process;IBA|GO:0006450;regulation of translational fidelity;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0002161;aminoacyl-tRNA editing activity;IEA|GO:0003677;DNA binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051499;D-aminoacyl-tRNA deacylase activity;IEA|GO:0051500;D-tyrosyl-tRNA(Tyr) deacylase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DTD1	https://www.uniprot.org/uniprot/Q8TEA8		https://www.ncbi.nlm.nih.gov/omim/?term=610996	http://www.informatics.jax.org/searchtool/Search.do?query=DTD1&submit=Quick%0D%5846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTD1	rs2295574	0.442093	0	0	1	0	0	intronic	intronic	intronic	DTD1	DTD1	ENSG00000125821	Na	Na	Na	Na	Na	Na	Het;T>C	188;1|8	Hom;T>C	164;0|6
N	N	-	20	18623128	18623128	G	A	snp	intronic	 	 	 	 	DTD1	Dtd1	ENSG00000125821	D-tyrosyl-tRNA deacylase 1	chr20:18568537-18744561	The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose	 		GO:0006260;DNA replication;IEA|GO:0006399;tRNA metabolic process;IBA|GO:0006450;regulation of translational fidelity;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0002161;aminoacyl-tRNA editing activity;IEA|GO:0003677;DNA binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051499;D-aminoacyl-tRNA deacylase activity;IEA|GO:0051500;D-tyrosyl-tRNA(Tyr) deacylase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DTD1	https://www.uniprot.org/uniprot/Q8TEA8		https://www.ncbi.nlm.nih.gov/omim/?term=610996	http://www.informatics.jax.org/searchtool/Search.do?query=DTD1&submit=Quick%0D%5846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTD1	rs6075382	0.39996	0	0	1	0	0	intronic	intronic	intronic	DTD1	DTD1	ENSG00000125821	Na	Na	Na	Na	Na	Na	Het;G>A	31;2|2	Hom;G>A	198;0|7
N	N	-	20	18623341	18623341	C	G	snp	intronic	 	 	 	 	DTD1	Dtd1	ENSG00000125821	D-tyrosyl-tRNA deacylase 1	chr20:18568537-18744561	The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose	 		GO:0006260;DNA replication;IEA|GO:0006399;tRNA metabolic process;IBA|GO:0006450;regulation of translational fidelity;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0002161;aminoacyl-tRNA editing activity;IEA|GO:0003677;DNA binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051499;D-aminoacyl-tRNA deacylase activity;IEA|GO:0051500;D-tyrosyl-tRNA(Tyr) deacylase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DTD1	https://www.uniprot.org/uniprot/Q8TEA8		https://www.ncbi.nlm.nih.gov/omim/?term=610996	http://www.informatics.jax.org/searchtool/Search.do?query=DTD1&submit=Quick%0D%5846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTD1	rs6132093	0.440096	0	0	1	0	0	intronic	intronic	intronic	DTD1	DTD1	ENSG00000125821	Na	Na	Na	Na	Na	Na	Het;C>G	115;7|6	Hom;C>G	442;0|17
N	N	-	20	18623549	18623549	C	CTTTCT	indel	ncRNA_exonic	 	 	 	 	DUXAP7																		rs140434521	0	0	0	1	0	0	intronic	intronic	ncRNA_exonic	DTD1	DTD1	ENSG00000232136	Na	Na	Na	Na	Na	Na	Het;+TTTCT	100;8|5	Hom;+TTTCT	306;0|9
N	N	-	20	18623568	18623568	A	T	snp	ncRNA_exonic	 	 	 	 	DUXAP7																		rs6081269	0	0	0	1	0	0	intronic	intronic	ncRNA_exonic	DTD1	DTD1	ENSG00000232136	Na	Na	Na	Na	Na	Na	Het;A>T	109;8|2	Hom;A>T	316;0|9
N	N	-	20	18623837	18623837	T	G	snp	ncRNA_exonic	 	 	 	 	DUXAP7																		rs6132094	0.441494	0	0	1	0	0	intronic	intronic	ncRNA_exonic	DTD1	DTD1	ENSG00000232136	Na	Na	Na	Na	Na	Na	Het;T>G	90;4|6	Hom;T>G	170;0|8
N	N	-	20	18659394	18659394	G	A	snp	ncRNA_intronic	 	 	 	 	LOC101929526																		rs6136465	0.294329	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101929526	DTD1	ENSG00000233993	Na	Na	Na	Na	Na	Na	Het;G>A	336;13|10	Hom;G>A	1271;0|28
N	N	-	20	18659402	18659402	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101929526																		rs6132098	0.78115	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101929526	DTD1	ENSG00000233993	Na	Na	Na	Na	Na	Na	Het;T>C	384;16|12	Hom;T>C	1384;0|34
N	N	-	20	18659537	18659537	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101929526																		rs6136466	0.324481	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101929526	DTD1	ENSG00000233993	Na	Na	Na	Na	Na	Na	Het;C>T	559;44|31	Hom;C>T	1351;2|52
N	N	-	20	18659617	18659617	T	G	snp	ncRNA_exonic	 	 	 	 	LOC101929526																		rs6132099	0.309904	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101929526	DTD1	ENSG00000233993	Na	Na	Na	Na	Na	Na	Het;T>G	293;29|15	Hom;T>G	936;2|35
N	N	-	20	18675931	18675931	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101929526																		rs6081305	0.311502	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101929526	DTD1	ENSG00000233993	Na	Na	Na	Na	Na	Na	Het;T>C	244;6|11	Hom;T>C	305;0|10
N	N	-	20	18769602	18769602	G	C	snp	ncRNA_intronic	 	 	 	 	LINC00652																		rs859033	0.396765	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00652	LINC00652	ENSG00000179935	Na	Na	Na	Na	Na	Na	Het;G>C	233;8|9	Hom;G>C	611;0|18
N	N	-	20	18776786	18776786	T	C	snp	downstream	 	 	 	 	AL035563.1																		rs6081377	0.28754	0	0	1	0	0	downstream	downstream	downstream	LOC100270804	LOC100270804	ENSG00000273148	Na	Na	Na	Na	Na	Na	Het;T>C	160;2|5	Hom;T>C	232;0|7
N	N	-	20	1896244	1896244	A	G	snp	intronic	 	 	 	 	SIRPA	Sirpa	ENSG00000198053	signal regulatory protein alpha	chr20:1875154-1920543	The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]	Aorta; Myocardial Infarction; Waist-Hip Ratio; mean platelet volume; Metabolism; Platelet Count; Body Fat Distribution	Homozygous null mice display mild thrombocytopenia, fatty livers, decreased body weight, decreased proportion of single positive T cells, enhanced peritoneal macrophage phagocytosis and impaired Langerhans cell migration.	Neutrophil degranulation	GO:0007155;cell adhesion;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0050900;leukocyte migration;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIRPA			https://www.ncbi.nlm.nih.gov/omim/?term=602461	http://www.informatics.jax.org/searchtool/Search.do?query=SIRPA&submit=Quick%0D%16798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIRPA	rs6136376	0.446286	0	0	1	0	0	intronic	intronic	intronic	SIRPA	SIRPA	ENSG00000198053	Na	Na	Na	Na	Na	Na	Het;A>G	65;8|3	Hom;A>G	160;0|5
N	N	-	20	1928146	1928147	GC	G	indel	ncRNA_exonic	 	 	 	 	AL034562.1																		rs11478790	0.336861	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	SIRPA(dist=7606),PDYN(dist=31255)	AK090681	ENSG00000233896	Na	Na	Na	Na	Na	Na	Het;-C	1122;50|38	Hom;-C	4315;0|116
N	N	-	20	19560555	19560556	GA	G	indel	intronic	 	 	 	 	SLC24A3	Slc24a3	ENSG00000185052	solute carrier family 24 member 3	chr20:19193290-19703581	Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]	Respiratory Function Tests; Cholesterol, LDL; Heart Rate; serum Matrix Metalloproteinase; Exercise Test; Blood Proteins; smoking cessation; Blood Pressure; Matrix Metalloproteinases; Cholesterol; Echocardiography; Asthma; Lymphocytes; Neuroblastoma; Neutrophils; Tobacco Use Disorder; Glucose	 	Sodium/Calcium exchangers	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IBA|GO:0008273;calcium, potassium:sodium antiporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0030955;potassium ion binding;IBA|GO:0031402;sodium ion binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC24A3			https://www.ncbi.nlm.nih.gov/omim/?term=609839	http://www.informatics.jax.org/searchtool/Search.do?query=SLC24A3&submit=Quick%0D%15333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC24A3	rs11087288	0.778155	0	0	1	0	0	intronic	intronic	intronic	SLC24A3	SLC24A3	ENSG00000185052	Na	Na	Na	Na	Na	Na	Het;-A	80;18|5	Hom;-A	554;0|15
N	N	-	20	19560664	19560664	G	A	snp	synonymous SNV	G369A	A123A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC24A3	Slc24a3	ENSG00000185052	solute carrier family 24 member 3	chr20:19193290-19703581	Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]	Respiratory Function Tests; Cholesterol, LDL; Heart Rate; serum Matrix Metalloproteinase; Exercise Test; Blood Proteins; smoking cessation; Blood Pressure; Matrix Metalloproteinases; Cholesterol; Echocardiography; Asthma; Lymphocytes; Neuroblastoma; Neutrophils; Tobacco Use Disorder; Glucose	 	Sodium/Calcium exchangers	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IBA|GO:0008273;calcium, potassium:sodium antiporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0030955;potassium ion binding;IBA|GO:0031402;sodium ion binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC24A3			https://www.ncbi.nlm.nih.gov/omim/?term=609839	http://www.informatics.jax.org/searchtool/Search.do?query=SLC24A3&submit=Quick%0D%15333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC24A3	rs3790261	0.652756	0.6786	0.7292	1	0	0	exonic	exonic	exonic	SLC24A3	SLC24A3	ENSG00000185052	synonymous SNV	synonymous SNV	unknown	SLC24A3:NM_020689:exon4:c.G369A:p.A123A,	SLC24A3:uc002wrl.3:exon4:c.G369A:p.A123A,	UNKNOWN	Het;G>A	784;63|44	Hom;G>A	2256;0|86
N	N	-	20	19829307	19829307	G	GT	indel	intergenic	 	 	 	 	RPL12P12																		rs11480052	0.685903	0	0	1	0	0	intergenic	intergenic	intergenic	SLC24A3(dist=125766),RIN2(dist=37858)	BC090059(dist=38370),RIN2(dist=37858)	ENSG00000236992(dist=24720),ENSG00000132669(dist=37858)	Na	Na	Na	Na	Na	Na	Het;+T	35;1|3	Hom;+T	76;0|4
N	N	-	20	19941538	19941538	A	T	snp	intronic	 	 	 	 	RIN2	Rin2	ENSG00000132669	Ras and Rab interactor 2	chr20:19867165-19983101	The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]	Erythrocyte Count; Magnesium; Stroke	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0061024;membrane organization;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0030695;GTPase regulator activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/RIN2	https://www.uniprot.org/uniprot/Q8WYP3	https://hpo.jax.org/app/browse/search?q=RIN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610222	http://www.informatics.jax.org/searchtool/Search.do?query=RIN2&submit=Quick%0D%6716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN2	rs199562	0.340056	0	0	1	0	0	intronic	intronic	intronic	RIN2	RIN2	ENSG00000132669	Na	Na	Na	Na	Na	Na	Het;A>T	578;14|24	Hom;A>T	1084;0|39
N	N	-	20	19945493	19945493	T	C	snp	intronic	 	 	 	 	RIN2	Rin2	ENSG00000132669	Ras and Rab interactor 2	chr20:19867165-19983101	The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]	Erythrocyte Count; Magnesium; Stroke	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0061024;membrane organization;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0030695;GTPase regulator activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/RIN2	https://www.uniprot.org/uniprot/Q8WYP3	https://hpo.jax.org/app/browse/search?q=RIN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610222	http://www.informatics.jax.org/searchtool/Search.do?query=RIN2&submit=Quick%0D%6716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN2	rs6046489	0.211262	0	0	1	0	0	intronic	intronic	intronic	RIN2	RIN2	ENSG00000132669	Na	Na	Na	Na	Na	Na	Het;T>C	129;1|5	Hom;T>C	182;0|6
N	N	-	20	19951660	19951660	C	T	snp	intronic	 	 	 	 	RIN2	Rin2	ENSG00000132669	Ras and Rab interactor 2	chr20:19867165-19983101	The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]	Erythrocyte Count; Magnesium; Stroke	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0061024;membrane organization;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0030695;GTPase regulator activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/RIN2	https://www.uniprot.org/uniprot/Q8WYP3	https://hpo.jax.org/app/browse/search?q=RIN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610222	http://www.informatics.jax.org/searchtool/Search.do?query=RIN2&submit=Quick%0D%6716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN2	rs3803982	0.16853	0	0	1	0	0	intronic	intronic	intronic	RIN2	RIN2	ENSG00000132669	Na	Na	Na	Na	Na	Na	Het;C>T	326;14|13	Hom;C>T	762;2|26
N	N	-	20	20257958	20257958	C	T	snp	synonymous SNV	C2652T	S884S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C20orf26	 																	rs2424317	0.133986	0.2056	0.1977	1	0	0	exonic	exonic	exonic	CFAP61	C20orf26	ENSG00000089101	synonymous SNV	synonymous SNV	unknown	CFAP61:NM_015585:exon22:c.C2652T:p.S884S,	C20orf26:uc002wru.3:exon22:c.C2652T:p.S884S,C20orf26:uc010zse.2:exon22:c.C2592T:p.S864S,	UNKNOWN	Het;C>T	2894;94|132	Hom;C>T	6031;0|224
N	N	-	20	20269631	20269631	C	G	snp	intronic	 	 	 	 	CFAP61																		rs1410263	0.418331	0.4634	0.4737	1	0	0	intronic	intronic	intronic	CFAP61	C20orf26	ENSG00000089101	Na	Na	Na	Na	Na	Na	Het;C>G	272;16|12	Hom;C>G	805;0|25
N	N	-	20	20348962	20348962	C	T	snp	synonymous SNV	C51T	S17S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	INSM1	Insm1	ENSG00000173404	INSM transcriptional repressor 1	chr20:20348765-20351590	Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele display perinatal and neonatal lethality, respiratory failure, and impaired pancreatic and intestinal endocrine cell development.	Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0003309;type B pancreatic cell differentiation;IEA|GO:0003310;pancreatic A cell differentiation;IEA|GO:0003323;type B pancreatic cell development;IEA|GO:0003358;noradrenergic neuron development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031018;endocrine pancreas development;TAS|GO:0035270;endocrine system development;IEA|GO:0042421;norepinephrine biosynthetic process;IEA|GO:0043254;regulation of protein complex assembly;IDA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0060290;transdifferentiation;IDA|GO:0061104;adrenal chromaffin cell differentiation;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0071158;positive regulation of cell cycle arrest;IDA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0017053;transcriptional repressor complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0030332;cyclin binding;IPI|GO:0031490;chromatin DNA binding;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/INSM1			https://www.ncbi.nlm.nih.gov/omim/?term=600010	http://www.informatics.jax.org/searchtool/Search.do?query=INSM1&submit=Quick%0D%13350ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INSM1	rs111558392	0.0738818	0.1167	0.2115	1	0	0	exonic	exonic	exonic	INSM1	INSM1	ENSG00000173404	synonymous SNV	synonymous SNV	unknown	INSM1:NM_002196:exon1:c.C51T:p.S17S,	INSM1:uc002wrx.3:exon1:c.C51T:p.S17S,	UNKNOWN	Het;C>T	147;14|10	Hom;C>T	516;0|22
N	N	-	20	20493222	20493222	G	A	snp	synonymous SNV	C4791T	P1597P	hydrophobic,neutral	hydrophobic,neutral	RALGAPA2	Ralgapa2	ENSG00000188559	Ral GTPase activating protein catalytic alpha subunit 2	chr20:20370196-20693131			Mice homozygous for a knock-out allele exhibit increased incidence and severity of induced urothelial bladder tumors.	Translocation of GLUT4 to the plasma membrane	GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA|GO:0090630;activation of GTPase activity;IBA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0005096;GTPase activator activity;IEA|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RALGAPA2				http://www.informatics.jax.org/searchtool/Search.do?query=RALGAPA2&submit=Quick%0D%16056ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RALGAPA2	rs35039408	0.270567	0.3124	0.3774	1	0	0	exonic	exonic	exonic	RALGAPA2	RALGAPA2	ENSG00000188559	synonymous SNV	synonymous SNV	unknown	RALGAPA2:NM_020343:exon32:c.C4791T:p.P1597P,	RALGAPA2:uc002wrz.3:exon32:c.C4791T:p.P1597P,RALGAPA2:uc002wry.3:exon23:c.C3636T:p.P1212P,RALGAPA2:uc002wsa.1:exon5:c.C1107T:p.P369P,RALGAPA2:uc010zsg.2:exon30:c.C3135T:p.P1045P,	UNKNOWN	Het;G>A	1709;85|79	Hom;G>A	3284;0|123
N	N	-	20	20742956	20742956	C	G	snp	intergenic	 	 	 	 	ENSG00000264361																		rs6112999	0.244209	0	0	1	0	0	intergenic	intergenic	intergenic	RALGAPA2(dist=49690),KIZ(dist=363668)	RALGAPA2(dist=49690),PLK1S1(dist=363668)	ENSG00000264361(dist=23582),ENSG00000225803(dist=91808)	Na	Na	Na	Na	Na	Na	Het;C>G	62;2|3	Hom;C>G	151;0|5
N	N	-	20	21284236	21284236	T	C	snp	intronic	 	 	 	 	XRN2	Xrn2	ENSG00000088930	5'-3' exoribonuclease 2	chr20:21283942-21370463	This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000738;DNA catabolic process, exonucleolytic;IDA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0006401;RNA catabolic process;TAS|GO:0007283;spermatogenesis;IEP|GO:0016049;cell growth;IEA|GO:0016070;RNA metabolic process;IEA|GO:0021766;hippocampus development;IEA|GO:0030182;neuron differentiation;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016235;aggresome;IDA	GO:0000175;3'-5'-exoribonuclease activity;EXP|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004518;nuclease activity;TAS|GO:0004527;exonuclease activity;IEA|GO:0004534;5'-3' exoribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0008409;5'-3' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/XRN2	https://www.uniprot.org/uniprot/Q9H0D6		https://www.ncbi.nlm.nih.gov/omim/?term=608851	http://www.informatics.jax.org/searchtool/Search.do?query=XRN2&submit=Quick%0D%2026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XRN2	rs2295412	0.298922	0	0	1	0	0	intronic	intronic	intronic	XRN2	XRN2	ENSG00000088930	Na	Na	Na	Na	Na	Na	Het;T>C	260;9|11	Hom;T>C	482;0|16
N	N	-	20	22381961	22381961	T	C	snp	ncRNA_intronic	 	 	 	 	LOC284788																		rs199771	0.518371	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC284788	LOC284788	ENSG00000204684	Na	Na	Na	Na	Na	Na	Het;T>C	860;50|37	Hom;T>C	2460;1|91
N	N	-	20	22400907	22400907	T	G	snp	ncRNA_exonic	 	 	 	 	LOC284788																		rs1204631	0.479433	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC284788	LOC284788	ENSG00000204684	Na	Na	Na	Na	Na	Na	Het;T>G	2598;91|115	Hom;T>G	5684;3|196
N	N	-	20	2290333	2290333	C	A	snp	nonsynonymous SNV	C38A	T13K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	TGM3	Tgm3	ENSG00000125780	transglutaminase 3	chr20:2276647-2321724	Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; hair thickness	Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs.		GO:0006464;cellular protein modification process;NAS|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IEP|GO:0031069;hair follicle morphogenesis;TAS|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0051262;protein tetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IDA|GO:0003824;catalytic activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM3	https://www.uniprot.org/uniprot/Q08188	https://hpo.jax.org/app/browse/search?q=TGM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600238	http://www.informatics.jax.org/searchtool/Search.do?query=TGM3&submit=Quick%0D%5833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM3	rs214803	0.742612	0.7070	0.8102	0.23	3	13	exonic	exonic	exonic	TGM3	TGM3	ENSG00000125780	nonsynonymous SNV	nonsynonymous SNV	unknown	TGM3:NM_003245:exon2:c.C38A:p.T13K,	TGM3:uc002wfx.4:exon2:c.C38A:p.T13K,	UNKNOWN	Het;C>A	421;26|19	Hom;C>A	1322;1|48
N	N	-	20	2290532	2290532	T	G	snp	intronic	 	 	 	 	TGM3	Tgm3	ENSG00000125780	transglutaminase 3	chr20:2276647-2321724	Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; hair thickness	Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs.		GO:0006464;cellular protein modification process;NAS|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IEP|GO:0031069;hair follicle morphogenesis;TAS|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0051262;protein tetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IDA|GO:0003824;catalytic activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM3	https://www.uniprot.org/uniprot/Q08188	https://hpo.jax.org/app/browse/search?q=TGM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600238	http://www.informatics.jax.org/searchtool/Search.do?query=TGM3&submit=Quick%0D%5833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM3	rs214804	0.869209	0	0	1	0	0	intronic	intronic	intronic	TGM3	TGM3	ENSG00000125780	Na	Na	Na	Na	Na	Na	Het;T>G	730;13|29	Hom;T>G	1959;0|67
N	N	-	20	2290547	2290547	C	T	snp	intronic	 	 	 	 	TGM3	Tgm3	ENSG00000125780	transglutaminase 3	chr20:2276647-2321724	Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; hair thickness	Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs.		GO:0006464;cellular protein modification process;NAS|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IEP|GO:0031069;hair follicle morphogenesis;TAS|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0051262;protein tetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IDA|GO:0003824;catalytic activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM3	https://www.uniprot.org/uniprot/Q08188	https://hpo.jax.org/app/browse/search?q=TGM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600238	http://www.informatics.jax.org/searchtool/Search.do?query=TGM3&submit=Quick%0D%5833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM3	rs214805	0.86901	0	0	1	0	0	intronic	intronic	intronic	TGM3	TGM3	ENSG00000125780	Na	Na	Na	Na	Na	Na	Het;C>T	545;6|25	Hom;C>T	1478;0|53
N	N	-	20	2291888	2291888	A	T	snp	intronic	 	 	 	 	TGM3	Tgm3	ENSG00000125780	transglutaminase 3	chr20:2276647-2321724	Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; hair thickness	Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs.		GO:0006464;cellular protein modification process;NAS|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IEP|GO:0031069;hair follicle morphogenesis;TAS|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0051262;protein tetramerization;IDA	GO:0005737;cytoplasm;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IDA|GO:0003824;catalytic activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM3	https://www.uniprot.org/uniprot/Q08188	https://hpo.jax.org/app/browse/search?q=TGM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600238	http://www.informatics.jax.org/searchtool/Search.do?query=TGM3&submit=Quick%0D%5833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM3	rs214806	0.867812	0	0	1	0	0	intronic	intronic	intronic	TGM3	TGM3	ENSG00000125780	Na	Na	Na	Na	Na	Na	Het;A>T	250;12|9	Hom;A>T	735;0|21
N	N	-	20	2361684	2361684	C	T	snp	intronic	 	 	 	 	TGM6	Tgm6	ENSG00000166948	transglutaminase 6	chr20:2361554-2413399	The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Stroke	 		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IEA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM6		https://hpo.jax.org/app/browse/search?q=TGM6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613900	http://www.informatics.jax.org/searchtool/Search.do?query=TGM6&submit=Quick%0D%11916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM6	rs2422753	0.690895	0.7898	0	1	0	0	intronic	intronic	intronic	TGM6	TGM6	ENSG00000166948	Na	Na	Na	Na	Na	Na	Het;C>T	390;8|20	Hom;C>T	522;0|22
N	N	-	20	2380396	2380396	G	A	snp	intronic	 	 	 	 	TGM6	Tgm6	ENSG00000166948	transglutaminase 6	chr20:2361554-2413399	The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Stroke	 		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IEA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM6		https://hpo.jax.org/app/browse/search?q=TGM6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613900	http://www.informatics.jax.org/searchtool/Search.do?query=TGM6&submit=Quick%0D%11916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM6	rs2076404	0.574081	0.6170	0.6616	1	0	0	intronic	intronic	intronic	TGM6	TGM6	ENSG00000166948	Na	Na	Na	Na	Na	Na	Het;G>A	1247;37|57	Hom;G>A	2055;0|81
N	N	-	20	238435	238441	CTGGTCT	C	indel	nonframeshift substitution	16_22C	 	 	 	DEFB132		ENSG00000186458	defensin beta 132	chr20:238377-241737	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]			Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB132				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132	rs371825938	0	0.6087	0.5892	1	0	0	exonic	exonic	exonic	DEFB132	DEFB132	ENSG00000186458	nonframeshift substitution	nonframeshift substitution	unknown	DEFB132:NM_207469:exon1:c.16_22C,	DEFB132:uc002wdb.3:exon1:c.16_22C,	UNKNOWN	Het;-TGGTCT	2063;49|54	Hom;-TGGTCT	2598;2|61
N	N	-	20	238507	238507	A	C	snp	intronic	 	 	 	 	DEFB132		ENSG00000186458	defensin beta 132	chr20:238377-241737	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]			Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB132				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132	rs373225	0.461062	0.4616	0.5327	1	0	0	intronic	intronic	intronic	DEFB132	DEFB132	ENSG00000186458	Na	Na	Na	Na	Na	Na	Het;A>C	474;39|25	Hom;A>C	970;2|36
N	N	-	20	238530	238530	T	G	snp	intronic	 	 	 	 	DEFB132		ENSG00000186458	defensin beta 132	chr20:238377-241737	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]			Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB132				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132	rs412143	0.667732	0.6531	0	1	0	0	intronic	intronic	intronic	DEFB132	DEFB132	ENSG00000186458	Na	Na	Na	Na	Na	Na	Het;T>G	399;26|13	Hom;T>G	1033;2|25
N	N	-	20	238540	238540	C	T	snp	intronic	 	 	 	 	DEFB132		ENSG00000186458	defensin beta 132	chr20:238377-241737	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]			Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB132				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132	rs416360	0.628594	0.6159	0	1	0	0	intronic	intronic	intronic	DEFB132	DEFB132	ENSG00000186458	Na	Na	Na	Na	Na	Na	Het;C>T	368;18|11	Hom;C>T	1082;0|24
N	N	-	20	239664	239664	T	C	snp	intronic	 	 	 	 	DEFB132		ENSG00000186458	defensin beta 132	chr20:238377-241737	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]			Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB132				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132	rs420525	0.627396	0	0	1	0	0	intronic	intronic	intronic	DEFB132	DEFB132	ENSG00000186458	Na	Na	Na	Na	Na	Na	Het;T>C	358;7|14	Hom;T>C	691;0|23
N	N	-	20	239688	239688	G	A	snp	intronic	 	 	 	 	DEFB132		ENSG00000186458	defensin beta 132	chr20:238377-241737	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]			Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB132				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132	rs399083	0.589856	0.6037	0.5952	1	0	0	intronic	intronic	intronic	DEFB132	DEFB132	ENSG00000186458	Na	Na	Na	Na	Na	Na	Het;G>A	680;14|18	Hom;G>A	1432;0|31
N	N	-	20	239697	239697	G	C	snp	intronic	 	 	 	 	DEFB132		ENSG00000186458	defensin beta 132	chr20:238377-241737	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]			Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB132				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132	rs399094	0.632588	0.6462	0.6076	1	0	0	intronic	intronic	intronic	DEFB132	DEFB132	ENSG00000186458	Na	Na	Na	Na	Na	Na	Het;G>C	689;20|19	Hom;G>C	1631;0|39
N	N	-	20	24950373	24950373	A	C	snp	intronic	 	 	 	 	APMAP	Apmap	ENSG00000101474	adipocyte plasma membrane associated protein	chr20:24943561-24973615			Homozygotes for a null allele show spatial memory deficits. Under a high-fat diet, homozygous deletion of exon 1 results in increased insulin sensitivity, improved glucose tolerance, increased respiratory exchange ratio, decreased inflammatory marker gene expression, and reduced adipocyte size.		GO:0008150;biological_process;ND|GO:0009058;biosynthetic process;IEA	GO:0005783;endoplasmic reticulum;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004064;arylesterase activity;IDA|GO:0016844;strictosidine synthase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APMAP	https://www.uniprot.org/uniprot/Q9HDC9		https://www.ncbi.nlm.nih.gov/omim/?term=615884	http://www.informatics.jax.org/searchtool/Search.do?query=APMAP&submit=Quick%0D%2754ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APMAP	rs2064404	0.801717	0	0	1	0	0	intronic	intronic	intronic	APMAP	APMAP	ENSG00000101474	Na	Na	Na	Na	Na	Na	Het;A>C	603;12|25	Hom;A>C	1058;1|37
N	N	-	20	25124088	25124088	G	A	snp	ncRNA_exonic	 	 	 	 	LOC284798																		rs6050363	0.859225	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC284798	LOC284798	ENSG00000230725	Na	Na	Na	Na	Na	Na	Het;G>A	1641;104|83	Hom;G>A	5047;0|194
N	N	-	20	256573	256573	A	G	snp	intronic	 	 	 	 	C20orf96	6820408C15Rik	ENSG00000196476	chromosome 20 open reading frame 96	chr20:251504-271390			 		GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C20orf96				http://www.informatics.jax.org/searchtool/Search.do?query=C20orf96&submit=Quick%0D%16379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf96	rs6075567	0.46885	0.4987	0.4678	1	0	0	intronic	intronic	intronic	C20orf96	C20orf96	ENSG00000196476	Na	Na	Na	Na	Na	Na	Het;A>G	415;18|20	Hom;A>G	778;0|30
N	N	-	20	256727	256727	T	A	snp	nonsynonymous SNV	A910T	I304F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	C20orf96	6820408C15Rik	ENSG00000196476	chromosome 20 open reading frame 96	chr20:251504-271390			 		GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C20orf96				http://www.informatics.jax.org/searchtool/Search.do?query=C20orf96&submit=Quick%0D%16379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf96	rs3827147	0.635184	0.6545	0.6024	0.08	1	13	exonic	exonic	exonic	C20orf96	C20orf96	ENSG00000196476	nonsynonymous SNV	nonsynonymous SNV	unknown	C20orf96:NM_080571:exon10:c.A910T:p.I304F,C20orf96:NM_153269:exon10:c.A913T:p.I305F,	C20orf96:uc010zpi.2:exon9:c.A754T:p.I252F,C20orf96:uc002wde.2:exon10:c.A913T:p.I305F,C20orf96:uc021vzl.1:exon10:c.A910T:p.I304F,	UNKNOWN	Het;T>A	425;25|22	Hom;T>A	1351;0|53
N	N	-	20	257733	257733	A	G	snp	synonymous SNV	T618C	S206S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C20orf96	6820408C15Rik	ENSG00000196476	chromosome 20 open reading frame 96	chr20:251504-271390			 		GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C20orf96				http://www.informatics.jax.org/searchtool/Search.do?query=C20orf96&submit=Quick%0D%16379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf96	rs2277781	0.647165	0.6758	0.6197	1	0	0	exonic	exonic	exonic	C20orf96	C20orf96	ENSG00000196476	synonymous SNV	synonymous SNV	unknown	C20orf96:NM_080571:exon8:c.T774C:p.S258S,C20orf96:NM_153269:exon8:c.T777C:p.S259S,	C20orf96:uc010zpi.2:exon7:c.T618C:p.S206S,C20orf96:uc002wde.2:exon8:c.T777C:p.S259S,C20orf96:uc010zpk.2:exon6:c.T591C:p.S197S,C20orf96:uc021vzl.1:exon8:c.T774C:p.S258S,C20orf96:uc010zpj.1:exon6:c.T672C:p.S224S,	UNKNOWN	Het;A>G	331;19|16	Hom;A>G	1338;0|54
N	N	-	20	257812	257812	T	C	snp	intronic	 	 	 	 	C20orf96	6820408C15Rik	ENSG00000196476	chromosome 20 open reading frame 96	chr20:251504-271390			 		GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C20orf96				http://www.informatics.jax.org/searchtool/Search.do?query=C20orf96&submit=Quick%0D%16379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf96	rs6046375	0.677516	0.7050	0.6240	1	0	0	intronic	intronic	intronic	C20orf96	C20orf96	ENSG00000196476	Na	Na	Na	Na	Na	Na	Het;T>C	1044;40|48	Hom;T>C	2663;2|96
N	N	-	20	25837581	25837581	A	G	snp	ncRNA_intronic	 	 	 	 	FAM182B	 	ENSG00000175170	family with sequence similarity 182 member B	chr20:25744102-25848861			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM182B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM182B&submit=Quick%0D%13648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM182B	rs796317293	0	0	0	1	0	0	intergenic	ncRNA_intronic	intronic	LOC101926935(dist=2924),LOC101926955(dist=98867)	FAM182B	ENSG00000175170	Na	Na	Na	Na	Na	Na	Het;A>G	44;4|2	Hom;A>G	152;0|4
N	N	-	20	25837582	25837582	T	G	snp	ncRNA_intronic	 	 	 	 	FAM182B	 	ENSG00000175170	family with sequence similarity 182 member B	chr20:25744102-25848861			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM182B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM182B&submit=Quick%0D%13648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM182B	rs796933144	0	0	0	1	0	0	intergenic	ncRNA_intronic	intronic	LOC101926935(dist=2925),LOC101926955(dist=98866)	FAM182B	ENSG00000175170	Na	Na	Na	Na	Na	Na	Het;T>G	44;4|2	Hom;T>G	152;0|4
N	N	-	20	25837590	25837590	T	C	snp	ncRNA_intronic	 	 	 	 	FAM182B	 	ENSG00000175170	family with sequence similarity 182 member B	chr20:25744102-25848861			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM182B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM182B&submit=Quick%0D%13648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM182B	rs796166211	0	0	0	1	0	0	intergenic	ncRNA_intronic	intronic	LOC101926935(dist=2933),LOC101926955(dist=98858)	FAM182B	ENSG00000175170	Na	Na	Na	Na	Na	Na	Het;T>C	44;4|2	Hom;T>C	152;0|4
N	N	-	20	25837597	25837597	G	C	snp	ncRNA_intronic	 	 	 	 	FAM182B	 	ENSG00000175170	family with sequence similarity 182 member B	chr20:25744102-25848861			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM182B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM182B&submit=Quick%0D%13648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM182B	rs77242173	0	0	0	1	0	0	intergenic	ncRNA_intronic	intronic	LOC101926935(dist=2940),LOC101926955(dist=98851)	FAM182B	ENSG00000175170	Na	Na	Na	Na	Na	Na	Het;G>C	47;3|2	Hom;G>C	152;0|4
N	N	-	20	2593006	2593006	A	G	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs1015159	0.650559	0.5574	0.6308	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;A>G	1108;39|49	Hom;A>G	2434;0|82
N	N	-	20	2596969	2596969	T	A	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs4621228	0	0	0	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;T>A	58;3|3	Hom;T>A	211;0|7
N	N	-	20	2597978	2597978	G	A	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs4815428	0.489816	0.5191	0.6184	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;G>A	1664;54|75	Hom;G>A	2170;0|76
N	N	-	20	2598019	2598019	C	T	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs6083866	0.533946	0	0	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;C>T	834;24|36	Hom;C>T	978;0|36
N	N	-	20	259969	259969	G	C	snp	synonymous SNV	C150G	T50T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C20orf96	6820408C15Rik	ENSG00000196476	chromosome 20 open reading frame 96	chr20:251504-271390			 		GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA		GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C20orf96				http://www.informatics.jax.org/searchtool/Search.do?query=C20orf96&submit=Quick%0D%16379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf96	rs7271033	0.66853	0.6370	0.5762	1	0	0	exonic	exonic	exonic	C20orf96	C20orf96	ENSG00000196476	synonymous SNV	synonymous SNV	unknown	C20orf96:NM_080571:exon5:c.C306G:p.T102T,C20orf96:NM_153269:exon5:c.C309G:p.T103T,	C20orf96:uc010zpi.2:exon4:c.C150G:p.T50T,C20orf96:uc002wde.2:exon5:c.C309G:p.T103T,C20orf96:uc010zpk.2:exon3:c.C123G:p.T41T,C20orf96:uc021vzl.1:exon5:c.C306G:p.T102T,C20orf96:uc010zpj.1:exon3:c.C204G:p.T68T,	UNKNOWN	Het;G>C	839;37|42	Hom;G>C	2312;0|84
N	N	-	20	26078778	26078778	A	G	snp	intergenic	 	 	 	 	FAM182A																		rs78847942	0	0	0	1	0	0	intergenic	intergenic	intergenic	FAM182A(dist=11225),NCOR1P1(dist=5274)	FAM182A(dist=11225),NCOR1P1(dist=5274)	ENSG00000125804(dist=5095),ENSG00000240108(dist=5274)	Na	Na	Na	Na	Na	Na	Het;A>G	160;1|5	Hom;A>G	152;0|4
N	N	-	20	26084435	26084435	T	C	snp	ncRNA_intronic	 	 	 	 	NCOR1P1																		rs62211565	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	NCOR1P1	NCOR1P1	ENSG00000240108	Na	Na	Na	Na	Na	Na	Het;T>C	201;4|6	Hom;T>C	421;1|11
N	N	-	20	2616556	2616556	T	C	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs910271	0.786542	0.7403	0.7787	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;T>C	516;29|25	Hom;T>C	1741;0|59
N	N	-	20	2616679	2616679	C	G	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs2422808	0.778754	0.7338	0.7770	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;C>G	618;45|31	Hom;C>G	1612;0|58
N	N	-	20	2618094	2618094	G	A	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs6037181	0.778954	0.7336	0.7763	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;G>A	452;28|21	Hom;G>A	963;0|35
N	N	-	20	2618140	2618140	T	C	snp	synonymous SNV	T2406C	S802S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs6083915	0.778954	0.7339	0.7765	1	0	0	exonic	exonic	exonic	TMC2	TMC2	ENSG00000149488	synonymous SNV	synonymous SNV	unknown	TMC2:NM_080751:exon19:c.T2406C:p.S802S,	TMC2:uc002wgf.1:exon19:c.T2406C:p.S802S,TMC2:uc002wgg.1:exon18:c.T2358C:p.S786S,	UNKNOWN	Het;T>C	851;56|43	Hom;T>C	2306;0|84
N	N	-	20	2618308	2618308	C	T	snp	intronic	 	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs6050771	0.778954	0	0	1	0	0	intronic	intronic	intronic	TMC2	TMC2	ENSG00000149488	Na	Na	Na	Na	Na	Na	Het;C>T	277;19|15	Hom;C>T	626;0|21
N	N	-	20	2621998	2621998	T	C	snp	UTR3	*1T>C	 	 	 	TMC2	Tmc2	ENSG00000149488	transmembrane channel like 2	chr20:2517253-2622430	This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]	Lupus Erythematosus, Systemic	Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA	GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMC2	https://www.uniprot.org/uniprot/Q8TDI7		https://www.ncbi.nlm.nih.gov/omim/?term=606707	http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2	rs6050798	0.531949	0.5180	0.5474	1	0	0	UTR3	UTR3	UTR3	TMC2(NM_080751:c.*1T>C)	TMC2(uc002wgf.1:c.*1T>C,uc002wgg.1:c.*1T>C)	ENSG00000149488(ENST00000358864:c.*1T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	874;40|41	Hom;T>C	1817;2|68
N	N	-	20	278687	278690	CCGG	C	indel	nonframeshift substitution	460_463C	 	 	 	ZCCHC3	Zcchc3	ENSG00000247315	zinc finger CCHC-type containing 3	chr20:277737-280965		Bipolar Disorder	 				GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC3				http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC3&submit=Quick%0D%19874ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC3	rs11468351	0.865615	0	0.8900	1	0	0	exonic	exonic	exonic	ZCCHC3	ZCCHC3	ENSG00000177764	nonframeshift substitution	nonframeshift substitution	unknown	ZCCHC3:NM_033089:exon1:c.460_463C,	ZCCHC3:uc002wdf.3:exon1:c.460_463C,	UNKNOWN	Het;-CGG	154;17|6	Hom;-CGG	1321;0|31
N	N	-	20	2842102	2842102	T	C	snp	intronic	 	 	 	 	VPS16	Vps16	ENSG00000215305	VPS16, CORVET/HOPS core subunit	chr20:2821349-2847378	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]		Mice with a homozygous point mutation in exon 3 display impaired motor function.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006914;autophagy;IEA|GO:0007033;vacuole organization;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0032889;regulation of vacuole fusion, non-autophagic;IBA|GO:0035542;regulation of SNARE complex assembly;IBA|GO:0097352;autophagosome maturation;IMP	GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IEA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030424;axon;IEA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0055037;recycling endosome;IDA	GO:0003779;actin binding;IBA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VPS16			https://www.ncbi.nlm.nih.gov/omim/?term=608550	http://www.informatics.jax.org/searchtool/Search.do?query=VPS16&submit=Quick%0D%18329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS16	rs6138920	0.563299	0	0	1	0	0	intronic	intronic	intronic	VPS16	VPS16	ENSG00000215305	Na	Na	Na	Na	Na	Na	Het;T>C	45;3|3	Hom;T>C	129;0|4
N	N	-	20	29632564	29632564	G	A	snp	ncRNA_intronic	 	 	 	 	FRG1B	 																	rs2379677	0.489816	0	0.7460	1	0	0	ncRNA_intronic	intronic	intronic	FRG1B	FRG1B	ENSG00000149531	Na	Na	Na	Na	Na	Na	Het;G>A	2942;23|106	Hom;G>A	3980;15|147
N	N	-	20	29632925	29632925	A	C	snp	ncRNA_intronic	 	 	 	 	FRG1B	 																	rs6057188	0	0	0	1	0	0	ncRNA_intronic	intronic	intronic	FRG1B	FRG1B	ENSG00000149531	Na	Na	Na	Na	Na	Na	Het;A>C	462;4|13	Hom;A>C	376;0|10
N	N	-	20	30452782	30452782	C	T	snp	synonymous SNV	G153A	P51P	hydrophobic,neutral	hydrophobic,neutral	DUSP15	Dusp15	ENSG00000149599	dual specificity phosphatase 15	chr20:30435440-30458550	The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]		 		GO:0006470;protein dephosphorylation;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IBA|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042127;regulation of cell proliferation;IBA|GO:0046330;positive regulation of JNK cascade;IBA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DUSP15	https://www.uniprot.org/uniprot/Q9H1R2		https://www.ncbi.nlm.nih.gov/omim/?term=616776	http://www.informatics.jax.org/searchtool/Search.do?query=DUSP15&submit=Quick%0D%9261ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP15	rs4911536	0.284944	0.2540	0.3123	0.29	2	7	exonic	exonic	exonic	DUSP15	DUSP15	ENSG00000149599	synonymous SNV	synonymous SNV	unknown	DUSP15:NM_080611:exon4:c.G162A:p.P54P,	DUSP15:uc002wwu.1:exon4:c.G153A:p.P51P,DUSP15:uc002wwx.1:exon4:c.G162A:p.P54P,	UNKNOWN	Het;C>T	1093;56|52	Hom;C>T	2129;0|82
N	N	-	20	30532709	30532709	T	C	snp	UTR3	*1251T>C	 	 	 	TTLL9	Ttll9	ENSG00000131044	tubulin tyrosine ligase like 9	chr20:30458505-30532764			Mice homozygous for a knock-out allele exhibit male infertility associated with oligozoospermia, detached sperm flagella, abnormal sperm axonemes with loss of doublet 7 and reduced polyglutamylation of doublet 5, and asthenozoospermia with frequent stalls after anti-hook bending.	Carboxyterminal post-translational modifications of tubulin	GO:0006464;cellular protein modification process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTLL9	https://www.uniprot.org/uniprot/Q3SXZ7			http://www.informatics.jax.org/searchtool/Search.do?query=TTLL9&submit=Quick%0D%6483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL9	rs6061046	0.439297	0	0	1	0	0	downstream	UTR3	UTR3	PDRG1	TTLL9(uc002wxc.2:c.*1885T>C)	ENSG00000131044(ENST00000375921:c.*1251T>C,ENST00000375938:c.*995T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1229;66|58	Hom;T>C	2837;0|103
N	N	-	20	31369136	31369137	AC	A	indel	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs3835238	0.619409	0.4356	0.5074	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;-C	940;38|30	Hom;-C	2286;0|59
N	N	-	20	31374259	31374259	C	T	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs2424913	0.688099	0.5080	0.5576	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;C>T	382;12|18	Hom;C>T	890;0|29
N	N	-	20	31374520	31374520	A	G	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs2424914	0.767173	0	0	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;A>G	818;53|38	Hom;A>G	2079;0|73
N	N	-	20	31374991	31374991	G	A	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs4911107	0.617612	0.4347	0.5075	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;G>A	338;16|16	Hom;G>A	754;0|27
N	N	-	20	31375311	31375311	A	G	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs4911108	0.55631	0	0	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;A>G	334;11|14	Hom;A>G	670;0|20
N	N	-	20	31379665	31379665	C	T	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs910084	0.530751	0	0	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;C>T	232;5|9	Hom;C>T	508;0|19
N	N	-	20	31381229	31381229	G	A	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs993419	0.658347	0	0	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;G>A	279;6|10	Hom;G>A	530;0|17
N	N	-	20	31383353	31383353	T	G	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs910085	0.584864	0.4029	0.4836	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;T>G	1208;92|62	Hom;T>G	3426;0|116
N	N	-	20	31383530	31383530	C	T	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs875041	0.658546	0.4806	0.5069	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;C>T	698;43|35	Hom;C>T	2888;0|108
N	N	-	20	31386347	31386347	T	C	snp	synonymous SNV	T1512C	C504C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs6058891	0.755791	0.5791	0.5806	1	0	0	exonic	exonic	exonic	DNMT3B	DNMT3B	ENSG00000088305	synonymous SNV	synonymous SNV	unknown	DNMT3B:NM_175848:exon14:c.T1512C:p.C504C,DNMT3B:NM_006892:exon15:c.T1572C:p.C524C,DNMT3B:NM_175849:exon14:c.T1512C:p.C504C,DNMT3B:NM_001207056:exon12:c.T1284C:p.C428C,DNMT3B:NM_175850:exon14:c.T1548C:p.C516C,DNMT3B:NM_001207055:exon13:c.T1386C:p.C462C,	DNMT3B:uc002wye.3:exon14:c.T1512C:p.C504C,DNMT3B:uc002wyg.3:exon8:c.T669C:p.C223C,DNMT3B:uc010zua.2:exon12:c.T1284C:p.C428C,DNMT3B:uc002wyd.3:exon14:c.T1512C:p.C504C,DNMT3B:uc010ztz.2:exon13:c.T1386C:p.C462C,DNMT3B:uc002wyf.3:exon14:c.T1548C:p.C516C,DNMT3B:uc002wyc.3:exon15:c.T1572C:p.C524C,	UNKNOWN	Het;T>C	781;37|36	Hom;T>C	1628;0|56
N	N	-	20	31386449	31386449	T	C	snp	synonymous SNV	T1614C	Y538Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs2424922	0.755791	0.5777	0.5792	1	0	0	exonic	exonic	exonic	DNMT3B	DNMT3B	ENSG00000088305	synonymous SNV	synonymous SNV	unknown	DNMT3B:NM_175848:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_006892:exon15:c.T1674C:p.Y558Y,DNMT3B:NM_175849:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_001207056:exon12:c.T1386C:p.Y462Y,DNMT3B:NM_175850:exon14:c.T1650C:p.Y550Y,DNMT3B:NM_001207055:exon13:c.T1488C:p.Y496Y,	DNMT3B:uc002wye.3:exon14:c.T1614C:p.Y538Y,DNMT3B:uc002wyg.3:exon8:c.T771C:p.Y257Y,DNMT3B:uc010zua.2:exon12:c.T1386C:p.Y462Y,DNMT3B:uc002wyd.3:exon14:c.T1614C:p.Y538Y,DNMT3B:uc010ztz.2:exon13:c.T1488C:p.Y496Y,DNMT3B:uc002wyf.3:exon14:c.T1650C:p.Y550Y,DNMT3B:uc002wyc.3:exon15:c.T1674C:p.Y558Y,	UNKNOWN	Het;T>C	1136;53|57	Hom;T>C	2719;0|102
N	N	-	20	31387954	31387954	C	G	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs1997797	0.714058	0.5340	0.5663	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;C>G	640;17|29	Hom;C>G	1552;0|57
N	N	-	20	31388636	31388636	T	C	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs2424928	0.742612	0.5621	0.5737	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;T>C	414;21|21	Hom;T>C	1046;0|38
N	N	-	20	31389009	31389009	C	T	snp	intronic	 	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs2065576	0.742612	0	0	1	0	0	intronic	intronic	intronic	DNMT3B	DNMT3B	ENSG00000088305	Na	Na	Na	Na	Na	Na	Het;C>T	222;19|12	Hom;C>T	926;0|35
N	N	-	20	31396536	31396536	A	G	snp	UTR3	*827A>G	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs2424932	0.804712	0	0	1	0	0	UTR3	UTR3	UTR3	DNMT3B(NM_175849:c.*827A>G,NM_175848:c.*827A>G,NM_001207056:c.*827A>G,NM_001207055:c.*827A>G,NM_006892:c.*827A>G,NM_175850:c.*827A>G)	DNMT3B(uc002wyc.3:c.*827A>G,uc002wyd.3:c.*827A>G,uc002wye.3:c.*827A>G,uc010ztz.2:c.*827A>G,uc010zua.2:c.*827A>G,uc002wyf.3:c.*827A>G,uc002wyg.3:c.*827A>G,uc010geg.3:c.*831A>G)	ENSG00000088305(ENST00000328111:c.*827A>G,ENST00000348286:c.*827A>G,ENST00000353855:c.*827A>G,ENST00000344505:c.*831A>G,ENST00000201963:c.*827A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	511;22|23	Hom;A>G	1165;0|37
N	N	-	20	31397019	31397020	AT	A	indel	UTR3	*1310_*1311delinsA	 	 	 	DNMT3B	Dnmt3b	ENSG00000088305	DNA methyltransferase 3 beta	chr20:31350191-31397162	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]	overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced	Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.	DNA methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B	https://www.uniprot.org/uniprot/Q9UBC3	https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602900	http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B	rs398088406	0.709265	0	0	1	0	0	UTR3	UTR3	UTR3	DNMT3B(NM_175849:c.*1310_*1311delinsA,NM_175848:c.*1310_*1311delinsA,NM_001207056:c.*1310_*1311delinsA,NM_001207055:c.*1310_*1311delinsA,NM_006892:c.*1310_*1311delinsA,NM_175850:c.*1310_*1311delinsA)	DNMT3B(uc002wyc.3:c.*1310_*1311delinsA,uc002wyd.3:c.*1310_*1311delinsA,uc002wye.3:c.*1310_*1311delinsA,uc010ztz.2:c.*1310_*1311delinsA,uc010zua.2:c.*1310_*1311delinsA,uc002wyf.3:c.*1310_*1311delinsA,uc002wyg.3:c.*1310_*1311delinsA,uc010geg.3:c.*1314_*1315delinsA)	ENSG00000088305(ENST00000328111:c.*1310_*1311delinsA,ENST00000348286:c.*1310_*1311delinsA,ENST00000353855:c.*1310_*1311delinsA,ENST00000344505:c.*1314_*1315delinsA,ENST00000201963:c.*1310_*1311delinsA)	Na	Na	Na	Na	Na	Na	Het;-T	1050;76|57	Hom;-T	2876;0|111
N	N	-	20	3147024	3147024	G	A	snp	intronic	 	 	 	 	LZTS3	Lzts3	ENSG00000088899	leucine zipper tumor suppressor family member 3	chr20:3143263-3154192			 			GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LZTS3	https://www.uniprot.org/uniprot/O60299		https://www.ncbi.nlm.nih.gov/omim/?term=610484	http://www.informatics.jax.org/searchtool/Search.do?query=LZTS3&submit=Quick%0D%2024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTS3	rs7260750	0.826078	0.7346	0.7040	1	0	0	intronic	intronic	intronic	LZTS3	LZTS3	ENSG00000088899	Na	Na	Na	Na	Na	Na	Het;G>A	1189;48|54	Hom;G>A	2931;0|106
N	N	-	20	31577394	31577394	G	A	snp	intronic	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs6058991	0.44988	0	0.3955	1	0	0	intronic	intronic	intronic	SUN5	SUN5	ENSG00000167098	Na	Na	Na	Na	Na	Na	Het;G>A	395;26|20	Hom;G>A	1102;0|42
N	N	-	20	31577572	31577572	C	T	snp	intronic	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs6088057	0.449681	0	0	1	0	0	intronic	intronic	intronic	SUN5	SUN5	ENSG00000167098	Na	Na	Na	Na	Na	Na	Het;C>T	209;5|9	Hom;C>T	346;1|14
N	N	-	20	31583384	31583384	A	G	snp	intronic	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs2070310	0.45028	0.3134	0.3950	1	0	0	intronic	intronic	intronic	SUN5	SUN5	ENSG00000167098	Na	Na	Na	Na	Na	Na	Het;A>G	1068;31|46	Hom;A>G	2216;0|81
N	N	-	20	31585292	31585292	A	G	snp	intronic	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs221975	0.723642	0	0	1	0	0	intronic	intronic	intronic	SUN5	SUN5	ENSG00000167098	Na	Na	Na	Na	Na	Na	Het;A>G	33;2|2	Hom;A>G	406;0|11
N	N	-	20	31585351	31585351	C	G	snp	intronic	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs452299	0.560703	0	0	1	0	0	intronic	intronic	intronic	SUN5	SUN5	ENSG00000167098	Na	Na	Na	Na	Na	Na	Het;C>G	313;16|14	Hom;C>G	1230;0|46
N	N	-	20	31585415	31585415	T	C	snp	intronic	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs190097	0.45008	0.3227	0.3958	1	0	0	intronic	intronic	intronic	SUN5	SUN5	ENSG00000167098	Na	Na	Na	Na	Na	Na	Het;T>C	846;43|41	Hom;T>C	2321;0|87
N	N	-	20	31585545	31585545	C	T	snp	intronic	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs440139	0.45008	0.3160	0.3958	1	0	0	intronic	intronic	intronic	SUN5	SUN5	ENSG00000167098	Na	Na	Na	Na	Na	Na	Het;C>T	329;12|15	Hom;C>T	670;0|23
N	N	-	20	31587793	31587793	A	G	snp	unknown	 	 	 	 	SUN5	Sun5	ENSG00000167098	Sad1 and UNC84 domain containing 5	chr20:31571579-31592239	Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis.	SPERMATOGENIC FAILURE 16	Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies.		GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SUN5	https://www.uniprot.org/uniprot/Q8TC36	https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613942	http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5	rs15850	0.621206	0	0.6021	0.22	2	9	intronic	intronic	exonic	SUN5	SUN5	ENSG00000167098	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	94;10|6	Hom;A>G	323;0|13
N	N	-	20	31688868	31688868	G	C	snp	intronic	 	 	 	 	BPIFB4	Bpifb4	ENSG00000186191	BPI fold containing family B member 4	chr20:31667450-31699557			 	Antimicrobial peptides		GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA	GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4			https://www.ncbi.nlm.nih.gov/omim/?term=615718	http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4	rs761931	0.444289	0	0	1	0	0	intronic	intronic	intronic	BPIFB4	BPIFB4	ENSG00000186191	Na	Na	Na	Na	Na	Na	Het;G>C	99;1|6	Hom;G>C	112;0|5
N	N	-	20	3172584	3172584	T	G	snp	intronic	 	 	 	 	DDRGK1	Ddrgk1																	rs67249524	0.351837	0	0	1	0	0	intronic	intronic	intronic	DDRGK1	DDRGK1	ENSG00000198171	Na	Na	Na	Na	Na	Na	Het;T>G	64;1|3	Hom;T>G	227;0|8
N	N	-	20	3175556	3175556	C	G	snp	intronic	 	 	 	 	DDRGK1	Ddrgk1																	rs2295549	0.415136	0.3372	0.3858	1	0	0	intronic	intronic	intronic	DDRGK1	DDRGK1	ENSG00000198171	Na	Na	Na	Na	Na	Na	Het;C>G	195;22|11	Hom;C>G	1014;0|36
N	N	-	20	3175694	3175694	G	A	snp	intronic	 	 	 	 	DDRGK1	Ddrgk1																	rs2295550	0.439097	0	0	1	0	0	intronic	intronic	intronic	DDRGK1	DDRGK1	ENSG00000198171	Na	Na	Na	Na	Na	Na	Het;G>A	71;4|4	Hom;G>A	119;0|4
N	N	-	20	3175742	3175742	A	G	snp	intronic	 	 	 	 	DDRGK1	Ddrgk1																	rs2295551	0.366014	0	0	1	0	0	intronic	intronic	intronic	DDRGK1	DDRGK1	ENSG00000198171	Na	Na	Na	Na	Na	Na	Het;A>G	148;6|6	Hom;A>G	282;0|9
N	N	-	20	3176009	3176009	T	C	snp	intronic	 	 	 	 	DDRGK1	Ddrgk1																	rs2295552	0.433107	0.4159	0.4148	1	0	0	intronic	intronic	intronic	DDRGK1	DDRGK1	ENSG00000198171	Na	Na	Na	Na	Na	Na	Het;T>C	1286;52|53	Hom;T>C	2371;0|86
N	N	-	20	32553047	32553047	T	G	snp	ncRNA_exonic	 	 	 	 	PIGPP3																		rs4012234	0.530751	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CHMP4B(dist=110874),RALY-AS1(dist=27247)	CHMP4B(dist=110874),RALY(dist=28411)	ENSG00000228958	Na	Na	Na	Na	Na	Na	Het;T>G	48;11|4	Hom;T>G	403;0|16
N	N	-	20	32553095	32553095	C	T	snp	ncRNA_exonic	 	 	 	 	PIGPP3																		rs4911382	0.530751	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CHMP4B(dist=110922),RALY-AS1(dist=27199)	CHMP4B(dist=110922),RALY(dist=28363)	ENSG00000228958	Na	Na	Na	Na	Na	Na	Het;C>T	61;16|6	Hom;C>T	318;0|12
N	N	-	20	32684309	32684309	G	A	snp	intronic	 	 	 	 	EIF2S2	Eif2s2	ENSG00000125977	eukaryotic translation initiation factor 2 subunit beta	chr20:32676104-32700138	Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		Mice homozygous for a gene trap allele exhibit embryonic lethallity prior to E8.5.  Mice heterozygous for a gene trap allele exhibit reduced incidence of testicular germ cell tumors.	Recycling of eIF2:GDP	GO:0001701;in utero embryonic development;IEA|GO:0002176;male germ cell proliferation;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0008584;male gonad development;IEA|GO:0055085;transmembrane transport;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005850;eukaryotic translation initiation factor 2 complex;TAS	GO:0003723;RNA binding;TAS|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF2S2	https://www.uniprot.org/uniprot/P20042		https://www.ncbi.nlm.nih.gov/omim/?term=603908	http://www.informatics.jax.org/searchtool/Search.do?query=EIF2S2&submit=Quick%0D%5894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2S2	rs2235596	0.656749	0	0	1	0	0	intronic	intronic	intronic	EIF2S2	EIF2S2	ENSG00000125977	Na	Na	Na	Na	Na	Na	Het;G>A	248;5|10	Hom;G>A	649;0|20
N	N	-	20	3342643	3342643	T	C	snp	ncRNA_exonic	 	 	 	 	UBE2V1P1																		rs11087580	0.415735	0	0	1	0	0	intronic	intronic	ncRNA_exonic	C20orf194	C20orf194	ENSG00000226632	Na	Na	Na	Na	Na	Na	Het;T>C	686;23|32	Hom;T>C	1943;0|69
N	N	-	20	3361908	3361908	G	A	snp	intronic	 	 	 	 	C20orf194	4930402H24Rik	ENSG00000088854	chromosome 20 open reading frame 194	chr20:3229951-3388272	This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]	Tobacco Use Disorder; Hepatitis C, Chronic	 					http://www.genecards.org/index.php?path=/Search/keyword/C20orf194	https://www.uniprot.org/uniprot/Q5TEA3		https://www.ncbi.nlm.nih.gov/omim/?term=614146	http://www.informatics.jax.org/searchtool/Search.do?query=C20orf194&submit=Quick%0D%2019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf194	rs2008901	0.383786	0	0	1	0	0	intronic	intronic	intronic	C20orf194	C20orf194	ENSG00000088854	Na	Na	Na	Na	Na	Na	Het;G>A	108;2|5	Hom;G>A	141;0|6
N	N	-	20	36202348	36202348	C	T	snp	intergenic	 	 	 	 	PPIAP3																		rs6066892	0.48742	0	0	1	0	0	intergenic	intergenic	intergenic	BLCAP(dist=46015),LINC00489(dist=45352)	BLCAP(dist=46015),LINC00489(dist=45352)	ENSG00000235044(dist=43403),ENSG00000228234(dist=28906)	Na	Na	Na	Na	Na	Na	Het;C>T	223;6|11	Hom;C>T	690;0|27
N	N	-	20	36202366	36202366	A	AGGAGGAG	indel	intergenic	 	 	 	 	PPIAP3																		rs11473315	0.486222	0	0	1	0	0	intergenic	intergenic	intergenic	BLCAP(dist=46033),LINC00489(dist=45334)	BLCAP(dist=46033),LINC00489(dist=45334)	ENSG00000235044(dist=43421),ENSG00000228234(dist=28888)	Na	Na	Na	Na	Na	Na	Het;+GGAGGAG	449;6|12	Hom;+GGAGGAG	1512;0|33
N	N	-	20	36231369	36231369	A	G	snp	ncRNA_exonic	 	 	 	 	GLRXP1																		rs4810923	0.644768	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BLCAP(dist=75036),LINC00489(dist=16331)	BLCAP(dist=75036),LINC00489(dist=16331)	ENSG00000228234	Na	Na	Na	Na	Na	Na	Het;A>G	42;2|3	Hom;A>G	92;0|4
N	N	-	20	36250698	36250698	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00489																		rs13042748	0.667532	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00489	LINC00489	ENSG00000225759	Na	Na	Na	Na	Na	Na	Het;A>G	560;1|13	Hom;A>G	782;0|18
N	N	-	20	36305516	36305516	T	C	snp	ncRNA_intronic	 	 	 	 	LOC100287792																		rs6020131	0.604034	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100287792	LOC100287792	ENSG00000204117	Na	Na	Na	Na	Na	Na	Het;T>C	467;24|22	Hom;T>C	1597;0|57
N	N	-	20	3657803	3657803	A	G	snp	intronic	 	 	 	 	ADAM33	Adam33	ENSG00000149451	ADAM metallopeptidase domain 33	chr20:3648612-3662893	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]	Pulmonary Disease, Chronic Obstructive; Dermatitis, Atopic|; Asthma|Bronchial Hyperreactivity; Psoriasis; Asthma; brain cancer; bronchodilator response; Asthma|; lung function; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; COPD | Chronic obstructive Pulmonary Disease; Asthma|Respiratory Sounds; allergic rhinitis; asthma bronchial hyperresponsiveness lung function; null; asthma, aspirin-intolerant; atherosclerosis; BHR; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; asthma; Asthma|Rhinitis, Allergic, Perennial; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 1; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Mice homozygous for a targeted gene deletion are viable, fertile, developmentally normal and display normal allergen-induced airway hyperreactivity, IgE production, mucus metaplasia, and airway inflammation in an OVA-induced model of allergic asthma.		GO:0006508;proteolysis;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;NAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM33	https://www.uniprot.org/uniprot/Q9BZ11		https://www.ncbi.nlm.nih.gov/omim/?term=607114	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM33&submit=Quick%0D%9231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM33	rs568251	0.904752	0.6839	0.8702	1	0	0	intronic	intronic	intronic	ADAM33	ADAM33	ENSG00000149451	Na	Na	Na	Na	Na	Na	Het;A>G	1164;54|33	Hom;A>G	3426;0|79
N	N	-	20	3657804	3657804	T	A	snp	intronic	 	 	 	 	ADAM33	Adam33	ENSG00000149451	ADAM metallopeptidase domain 33	chr20:3648612-3662893	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]	Pulmonary Disease, Chronic Obstructive; Dermatitis, Atopic|; Asthma|Bronchial Hyperreactivity; Psoriasis; Asthma; brain cancer; bronchodilator response; Asthma|; lung function; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; COPD | Chronic obstructive Pulmonary Disease; Asthma|Respiratory Sounds; allergic rhinitis; asthma bronchial hyperresponsiveness lung function; null; asthma, aspirin-intolerant; atherosclerosis; BHR; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; asthma; Asthma|Rhinitis, Allergic, Perennial; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 1; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Mice homozygous for a targeted gene deletion are viable, fertile, developmentally normal and display normal allergen-induced airway hyperreactivity, IgE production, mucus metaplasia, and airway inflammation in an OVA-induced model of allergic asthma.		GO:0006508;proteolysis;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;NAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM33	https://www.uniprot.org/uniprot/Q9BZ11		https://www.ncbi.nlm.nih.gov/omim/?term=607114	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM33&submit=Quick%0D%9231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM33	rs597165	0.904952	0.6763	0.8704	1	0	0	intronic	intronic	intronic	ADAM33	ADAM33	ENSG00000149451	Na	Na	Na	Na	Na	Na	Het;T>A	1164;53|32	Hom;T>A	3426;0|76
N	N	-	20	3670061	3670061	G	A	snp	UTR3	*492C>T	 	 	 	SIGLEC1	Siglec1	ENSG00000088827	sialic acid binding Ig like lectin 1	chr20:3667617-3687775	This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]	longevity	Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1	https://www.uniprot.org/uniprot/Q9BZZ2		https://www.ncbi.nlm.nih.gov/omim/?term=600751	http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1	rs3746634	0.256789	0	0	1	0	0	intronic	UTR3	UTR3	SIGLEC1	SIGLEC1(uc002wjb.1:c.*492C>T)	ENSG00000088827(ENST00000419548:c.*492C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	145;2|5	Hom;G>A	158;0|5
N	N	-	20	3671891	3671891	G	A	snp	intronic	 	 	 	 	SIGLEC1	Siglec1	ENSG00000088827	sialic acid binding Ig like lectin 1	chr20:3667617-3687775	This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]	longevity	Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1	https://www.uniprot.org/uniprot/Q9BZZ2		https://www.ncbi.nlm.nih.gov/omim/?term=600751	http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1	rs3859664	0.377196	0	0	1	0	0	intronic	intronic	intronic	SIGLEC1	SIGLEC1	ENSG00000088827	Na	Na	Na	Na	Na	Na	Het;G>A	178;4|9	Hom;G>A	450;0|15
N	N	-	20	3672836	3672836	G	A	snp	synonymous SNV	C4044T	D1348D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SIGLEC1	Siglec1	ENSG00000088827	sialic acid binding Ig like lectin 1	chr20:3667617-3687775	This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]	longevity	Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1	https://www.uniprot.org/uniprot/Q9BZZ2		https://www.ncbi.nlm.nih.gov/omim/?term=600751	http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1	rs910653	0.380391	0.3258	0.4059	1	0	0	exonic	exonic	exonic	SIGLEC1	SIGLEC1	ENSG00000088827	synonymous SNV	synonymous SNV	unknown	SIGLEC1:NM_023068:exon16:c.C4044T:p.D1348D,	SIGLEC1:uc002wja.3:exon16:c.C4044T:p.D1348D,SIGLEC1:uc002wiz.4:exon16:c.C4044T:p.D1348D,	UNKNOWN	Het;G>A	701;31|33	Hom;G>A	1301;0|52
N	N	-	20	3675333	3675333	G	A	snp	nonsynonymous SNV	C2921T	A974V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SIGLEC1	Siglec1	ENSG00000088827	sialic acid binding Ig like lectin 1	chr20:3667617-3687775	This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]	longevity	Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1	https://www.uniprot.org/uniprot/Q9BZZ2		https://www.ncbi.nlm.nih.gov/omim/?term=600751	http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1	rs3746638	0.584864	0.4875	0.5684	0.23	3	13	exonic	exonic	exonic	SIGLEC1	SIGLEC1	ENSG00000088827	nonsynonymous SNV	nonsynonymous SNV	unknown	SIGLEC1:NM_023068:exon11:c.C2921T:p.A974V,	SIGLEC1:uc002wja.3:exon11:c.C2921T:p.A974V,SIGLEC1:uc002wiz.4:exon11:c.C2921T:p.A974V,	UNKNOWN	Het;G>A	962;42|48	Hom;G>A	2156;0|82
N	N	-	20	3675498	3675498	T	G	snp	nonsynonymous SNV	A2756C	H919P	aromatic,polar,hydrophilic,charged(+)	hydrophobic,neutral	SIGLEC1	Siglec1	ENSG00000088827	sialic acid binding Ig like lectin 1	chr20:3667617-3687775	This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]	longevity	Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1	https://www.uniprot.org/uniprot/Q9BZZ2		https://www.ncbi.nlm.nih.gov/omim/?term=600751	http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1	rs709012	0.741414	0.6665	0.6838	0.23	3	13	exonic	exonic	exonic	SIGLEC1	SIGLEC1	ENSG00000088827	nonsynonymous SNV	nonsynonymous SNV	unknown	SIGLEC1:NM_023068:exon11:c.A2756C:p.H919P,	SIGLEC1:uc002wja.3:exon11:c.A2756C:p.H919P,SIGLEC1:uc002wiz.4:exon11:c.A2756C:p.H919P,	UNKNOWN	Het;T>G	627;29|30	Hom;T>G	1871;0|71
N	N	-	20	3677736	3677736	T	G	snp	synonymous SNV	A2376C	V792V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SIGLEC1	Siglec1	ENSG00000088827	sialic acid binding Ig like lectin 1	chr20:3667617-3687775	This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]	longevity	Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1	https://www.uniprot.org/uniprot/Q9BZZ2		https://www.ncbi.nlm.nih.gov/omim/?term=600751	http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1	rs673114	0.717652	0.6626	0.6631	1	0	0	exonic	exonic	exonic	SIGLEC1	SIGLEC1	ENSG00000088827	synonymous SNV	synonymous SNV	unknown	SIGLEC1:NM_023068:exon9:c.A2376C:p.V792V,	SIGLEC1:uc002wja.3:exon9:c.A2376C:p.V792V,SIGLEC1:uc002wiz.4:exon9:c.A2376C:p.V792V,	UNKNOWN	Het;T>G	592;24|24	Hom;T>G	1388;0|46
N	N	-	20	36989269	36989269	C	T	snp	intronic	 	 	 	 	LBP	Lbp	ENSG00000129988	lipopolysaccharide binding protein	chr20:36974759-37005665	The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]	Sepsis; antibody response to pertussis vaccination; Endocarditis, Bacterial|Gram-Positive Bacterial Infections|Staphylococcal Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; C-reactive protein; Burns|Sepsis|Systemic infection; sepsis; Pregnancy Complications, Infectious|Vaginosis, Bacterial; Gram-Negative Bacterial Infections|Neutropenia; longevity; Meningeal Neoplasms|meningioma; myocardial infarct; Nonsurvivors of sepsis (male only)	Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria.	Interleukin-4 and 13 signaling	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002281;macrophage activation involved in immune response;IMP|GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006953;acute-phase response;IEP|GO:0006968;cellular defense response;ISS|GO:0008228;opsonization;IC|GO:0015920;lipopolysaccharide transport;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032490;detection of molecule of bacterial origin;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0033036;macromolecule localization;IDA|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045087;innate immune response;IC|GO:0045919;positive regulation of cytolysis;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071223;cellular response to lipoteichoic acid;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;ISS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0070891;lipoteichoic acid binding;IDA|GO:0071723;lipopeptide binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LBP	https://www.uniprot.org/uniprot/P18428		https://www.ncbi.nlm.nih.gov/omim/?term=151990	http://www.informatics.jax.org/searchtool/Search.do?query=LBP&submit=Quick%0D%6299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBP	rs1780623	0.397564	0	0	1	0	0	intronic	intronic	intronic	LBP	LBP	ENSG00000129988	Na	Na	Na	Na	Na	Na	Het;C>T	45;7|3	Hom;C>T	124;0|5
N	N	-	20	36989302	36989302	C	G	snp	intronic	 	 	 	 	LBP	Lbp	ENSG00000129988	lipopolysaccharide binding protein	chr20:36974759-37005665	The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]	Sepsis; antibody response to pertussis vaccination; Endocarditis, Bacterial|Gram-Positive Bacterial Infections|Staphylococcal Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; C-reactive protein; Burns|Sepsis|Systemic infection; sepsis; Pregnancy Complications, Infectious|Vaginosis, Bacterial; Gram-Negative Bacterial Infections|Neutropenia; longevity; Meningeal Neoplasms|meningioma; myocardial infarct; Nonsurvivors of sepsis (male only)	Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria.	Interleukin-4 and 13 signaling	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002281;macrophage activation involved in immune response;IMP|GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006953;acute-phase response;IEP|GO:0006968;cellular defense response;ISS|GO:0008228;opsonization;IC|GO:0015920;lipopolysaccharide transport;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032490;detection of molecule of bacterial origin;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0033036;macromolecule localization;IDA|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045087;innate immune response;IC|GO:0045919;positive regulation of cytolysis;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071223;cellular response to lipoteichoic acid;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;ISS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0070891;lipoteichoic acid binding;IDA|GO:0071723;lipopeptide binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LBP	https://www.uniprot.org/uniprot/P18428		https://www.ncbi.nlm.nih.gov/omim/?term=151990	http://www.informatics.jax.org/searchtool/Search.do?query=LBP&submit=Quick%0D%6299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBP	rs1780624	0.649161	0.5550	0	1	0	0	intronic	intronic	intronic	LBP	LBP	ENSG00000129988	Na	Na	Na	Na	Na	Na	Het;C>G	247;10|12	Hom;C>G	491;0|18
N	N	-	20	36989381	36989381	G	A	snp	synonymous SNV	G612A	S204S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LBP	Lbp	ENSG00000129988	lipopolysaccharide binding protein	chr20:36974759-37005665	The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]	Sepsis; antibody response to pertussis vaccination; Endocarditis, Bacterial|Gram-Positive Bacterial Infections|Staphylococcal Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; C-reactive protein; Burns|Sepsis|Systemic infection; sepsis; Pregnancy Complications, Infectious|Vaginosis, Bacterial; Gram-Negative Bacterial Infections|Neutropenia; longevity; Meningeal Neoplasms|meningioma; myocardial infarct; Nonsurvivors of sepsis (male only)	Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria.	Interleukin-4 and 13 signaling	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002281;macrophage activation involved in immune response;IMP|GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006953;acute-phase response;IEP|GO:0006968;cellular defense response;ISS|GO:0008228;opsonization;IC|GO:0015920;lipopolysaccharide transport;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032490;detection of molecule of bacterial origin;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0033036;macromolecule localization;IDA|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045087;innate immune response;IC|GO:0045919;positive regulation of cytolysis;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071223;cellular response to lipoteichoic acid;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;ISS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0070891;lipoteichoic acid binding;IDA|GO:0071723;lipopeptide binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LBP	https://www.uniprot.org/uniprot/P18428		https://www.ncbi.nlm.nih.gov/omim/?term=151990	http://www.informatics.jax.org/searchtool/Search.do?query=LBP&submit=Quick%0D%6299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBP	rs2232596	0.649361	0.5479	0.5553	1	0	0	exonic	exonic	exonic	LBP	LBP	ENSG00000129988	synonymous SNV	synonymous SNV	unknown	LBP:NM_004139:exon6:c.G612A:p.S204S,	LBP:uc002xic.2:exon6:c.G612A:p.S204S,	UNKNOWN	Het;G>A	606;22|30	Hom;G>A	1262;0|49
N	N	-	20	36995340	36995340	C	T	snp	intronic	 	 	 	 	LBP	Lbp	ENSG00000129988	lipopolysaccharide binding protein	chr20:36974759-37005665	The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]	Sepsis; antibody response to pertussis vaccination; Endocarditis, Bacterial|Gram-Positive Bacterial Infections|Staphylococcal Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; C-reactive protein; Burns|Sepsis|Systemic infection; sepsis; Pregnancy Complications, Infectious|Vaginosis, Bacterial; Gram-Negative Bacterial Infections|Neutropenia; longevity; Meningeal Neoplasms|meningioma; myocardial infarct; Nonsurvivors of sepsis (male only)	Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria.	Interleukin-4 and 13 signaling	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002281;macrophage activation involved in immune response;IMP|GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006953;acute-phase response;IEP|GO:0006968;cellular defense response;ISS|GO:0008228;opsonization;IC|GO:0015920;lipopolysaccharide transport;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032490;detection of molecule of bacterial origin;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0033036;macromolecule localization;IDA|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045087;innate immune response;IC|GO:0045919;positive regulation of cytolysis;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071223;cellular response to lipoteichoic acid;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;ISS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0070891;lipoteichoic acid binding;IDA|GO:0071723;lipopeptide binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LBP	https://www.uniprot.org/uniprot/P18428		https://www.ncbi.nlm.nih.gov/omim/?term=151990	http://www.informatics.jax.org/searchtool/Search.do?query=LBP&submit=Quick%0D%6299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBP	rs1739639	0.666933	0	0	1	0	0	intronic	intronic	intronic	LBP	LBP	ENSG00000129988	Na	Na	Na	Na	Na	Na	Het;C>T	481;16|22	Hom;C>T	784;0|27
N	N	-	20	36997632	36997632	T	C	snp	intronic	 	 	 	 	LBP	Lbp	ENSG00000129988	lipopolysaccharide binding protein	chr20:36974759-37005665	The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]	Sepsis; antibody response to pertussis vaccination; Endocarditis, Bacterial|Gram-Positive Bacterial Infections|Staphylococcal Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; C-reactive protein; Burns|Sepsis|Systemic infection; sepsis; Pregnancy Complications, Infectious|Vaginosis, Bacterial; Gram-Negative Bacterial Infections|Neutropenia; longevity; Meningeal Neoplasms|meningioma; myocardial infarct; Nonsurvivors of sepsis (male only)	Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria.	Interleukin-4 and 13 signaling	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002281;macrophage activation involved in immune response;IMP|GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006953;acute-phase response;IEP|GO:0006968;cellular defense response;ISS|GO:0008228;opsonization;IC|GO:0015920;lipopolysaccharide transport;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032490;detection of molecule of bacterial origin;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0033036;macromolecule localization;IDA|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045087;innate immune response;IC|GO:0045919;positive regulation of cytolysis;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071223;cellular response to lipoteichoic acid;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;ISS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0070891;lipoteichoic acid binding;IDA|GO:0071723;lipopeptide binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LBP	https://www.uniprot.org/uniprot/P18428		https://www.ncbi.nlm.nih.gov/omim/?term=151990	http://www.informatics.jax.org/searchtool/Search.do?query=LBP&submit=Quick%0D%6299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBP	rs1780627	0.653355	0.5530	0.5739	1	0	0	intronic	intronic	intronic	LBP	LBP	ENSG00000129988	Na	Na	Na	Na	Na	Na	Het;T>C	545;24|22	Hom;T>C	1687;0|52
N	N	-	20	37001934	37001934	T	C	snp	intronic	 	 	 	 	LBP	Lbp	ENSG00000129988	lipopolysaccharide binding protein	chr20:36974759-37005665	The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]	Sepsis; antibody response to pertussis vaccination; Endocarditis, Bacterial|Gram-Positive Bacterial Infections|Staphylococcal Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; C-reactive protein; Burns|Sepsis|Systemic infection; sepsis; Pregnancy Complications, Infectious|Vaginosis, Bacterial; Gram-Negative Bacterial Infections|Neutropenia; longevity; Meningeal Neoplasms|meningioma; myocardial infarct; Nonsurvivors of sepsis (male only)	Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria.	Interleukin-4 and 13 signaling	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002281;macrophage activation involved in immune response;IMP|GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006953;acute-phase response;IEP|GO:0006968;cellular defense response;ISS|GO:0008228;opsonization;IC|GO:0015920;lipopolysaccharide transport;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032490;detection of molecule of bacterial origin;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0033036;macromolecule localization;IDA|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045087;innate immune response;IC|GO:0045919;positive regulation of cytolysis;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071223;cellular response to lipoteichoic acid;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;ISS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0070891;lipoteichoic acid binding;IDA|GO:0071723;lipopeptide binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LBP	https://www.uniprot.org/uniprot/P18428		https://www.ncbi.nlm.nih.gov/omim/?term=151990	http://www.informatics.jax.org/searchtool/Search.do?query=LBP&submit=Quick%0D%6299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBP	rs1739640	0.65595	0	0	1	0	0	intronic	intronic	intronic	LBP	LBP	ENSG00000129988	Na	Na	Na	Na	Na	Na	Het;T>C	72;3|4	Hom;T>C	184;0|6
N	N	-	20	37266561	37266561	T	C	snp	intronic	 	 	 	 	ARHGAP40	Arhgap40	ENSG00000124143	Rho GTPase activating protein 40	chr20:37230577-37279678			 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP40	https://www.uniprot.org/uniprot/Q5TG30			http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP40&submit=Quick%0D%5596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP40	rs220538	0.514377	0	0	1	0	0	intronic	intronic	intronic	ARHGAP40	ARHGAP40	ENSG00000124143	Na	Na	Na	Na	Na	Na	Het;T>C	41;3|2	Hom;T>C	139;0|5
N	N	-	20	37272589	37272589	G	A	snp	intronic	 	 	 	 	ARHGAP40	Arhgap40	ENSG00000124143	Rho GTPase activating protein 40	chr20:37230577-37279678			 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP40	https://www.uniprot.org/uniprot/Q5TG30			http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP40&submit=Quick%0D%5596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP40	rs419162	0.491613	0.4829	0.5256	1	0	0	intronic	intronic	intronic	ARHGAP40	ARHGAP40	ENSG00000124143	Na	Na	Na	Na	Na	Na	Het;G>A	738;34|37	Hom;G>A	1256;0|48
N	N	-	20	37274559	37274559	C	CA	indel	intronic	 	 	 	 	ARHGAP40	Arhgap40	ENSG00000124143	Rho GTPase activating protein 40	chr20:37230577-37279678			 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP40	https://www.uniprot.org/uniprot/Q5TG30			http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP40&submit=Quick%0D%5596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP40	rs11426603	0	0	0	1	0	0	intronic	intronic	intronic	ARHGAP40	ARHGAP40	ENSG00000124143	Na	Na	Na	Na	Na	Na	Het;+A	79;3|4	Hom;+A	102;0|4
N	N	-	20	37274861	37274861	A	G	snp	intronic	 	 	 	 	ARHGAP40	Arhgap40	ENSG00000124143	Rho GTPase activating protein 40	chr20:37230577-37279678			 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP40	https://www.uniprot.org/uniprot/Q5TG30			http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP40&submit=Quick%0D%5596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP40	rs117796	0.49381	0	0.5546	1	0	0	intronic	intronic	intronic	ARHGAP40	ARHGAP40	ENSG00000124143	Na	Na	Na	Na	Na	Na	Het;A>G	695;35|32	Hom;A>G	1301;0|46
N	N	-	20	37718231	37718231	G	A	snp	intergenic	 	 	 	 	DHX35	Dhx35	ENSG00000101452	DEAH-box helicase 35	chr20:37590942-37668366	DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]	Tobacco Use Disorder	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006396;RNA processing;IBA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA	GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IBA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHX35	https://www.uniprot.org/uniprot/Q9H5Z1			http://www.informatics.jax.org/searchtool/Search.do?query=DHX35&submit=Quick%0D%2747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX35	rs34214971	0.333666	0	0	1	0	0	intergenic	intergenic	intergenic	DHX35(dist=49865),LOC339568(dist=124193)	DHX35(dist=49865),miR-449b-3P(dist=16163)	ENSG00000101452(dist=49865),ENSG00000230324(dist=124189)	Na	Na	Na	Na	Na	Na	Het;G>A	64;2|3	Hom;G>A	117;0|4
N	N	-	20	38003308	38003308	T	G	snp	intergenic	 	 	 	 	ENSG00000241840																		rs6028414	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC339568(dist=149917),LINC01370(dist=629795)	Mir_584(dist=103008),SNORD112(dist=1042207)	ENSG00000241840(dist=21634),ENSG00000229976(dist=411055)	Na	Na	Na	Na	Na	Na	Het;T>G	160;2|10	Hom;T>G	387;0|13
N	N	-	20	39406048	39406048	C	A	snp	intergenic	 	 	 	 	AL035665.1																		rs13043888	0.284545	0	0	1	0	0	intergenic	intergenic	intergenic	MAFB(dist=88168),TOP1(dist=251414)	MAFB(dist=88172),5S_rRNA(dist=76711)	ENSG00000229771(dist=78792),ENSG00000238908(dist=76711)	Na	Na	Na	Na	Na	Na	Het;C>A	86;2|5	Hom;C>A	120;0|6
N	N	-	20	41316944	41316944	T	G	snp	ncRNA_exonic	 	 	 	 	LOC101927159																		rs2425524	0.509185	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927159	BC040166	ENSG00000229042	Na	Na	Na	Na	Na	Na	Het;T>G	1619;73|73	Hom;T>G	4789;0|136
N	N	-	20	4176677	4176677	C	A	snp	downstream	 	 	 	 	LINC01433																		rs1217363	0.765974	0	0	1	0	0	downstream	downstream	downstream	LINC01433	LOC728228	ENSG00000230176	Na	Na	Na	Na	Na	Na	Het;C>A	330;17|18	Hom;C>A	745;0|27
N	N	-	20	4202802	4202802	A	G	snp	intronic	 	 	 	 	ADRA1D	Adra1d	ENSG00000171873	adrenoceptor alpha 1D	chr20:4201329-4229721	Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Gastroparesis; Alcoholism; left ventricular fractional shortening; Erythrocyte Count; interstitial cystitis; several psychiatric disorders; Uric Acid; Respiratory Function Tests	Mice homozygous for disruptions in this gene display hypotension or reduced rearing behavior in a novel environment, decreased wheel-running activity during the night, and reduced hyperlocomotion after amphetamine administration.	G alpha (12/13) signalling events	GO:0001994;norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure;IBA|GO:0006259;DNA metabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IBA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IBA|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0045907;positive regulation of vasoconstriction;IBA|GO:0045987;positive regulation of smooth muscle contraction;IBA|GO:0071875;adrenergic receptor signaling pathway;IEA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004937;alpha1-adrenergic receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ADRA1D			https://www.ncbi.nlm.nih.gov/omim/?term=104219	http://www.informatics.jax.org/searchtool/Search.do?query=ADRA1D&submit=Quick%0D%13038ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRA1D	rs835873	0.834265	0.8215	0.8255	1	0	0	intronic	intronic	intronic	ADRA1D	ADRA1D	ENSG00000171873	Na	Na	Na	Na	Na	Na	Het;A>G	513;38|25	Hom;A>G	1851;0|68
N	N	-	20	42205061	42205061	G	A	snp	intronic	 	 	 	 	SGK2	Sgk2	ENSG00000101049	SGK2, serine/threonine kinase 2	chr20:42187608-42216877	This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]		 	Stimuli-sensing channels	GO:0001558;regulation of cell growth;TAS|GO:0006468;protein phosphorylation;NAS|GO:0006979;response to oxidative stress;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032411;positive regulation of transporter activity;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0035556;intracellular signal transduction;TAS|GO:0042127;regulation of cell proliferation;TAS|GO:0042981;regulation of apoptotic process;IBA	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005246;calcium channel regulator activity;IBA|GO:0005524;ATP binding;IEA|GO:0015459;potassium channel regulator activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017080;sodium channel regulator activity;NAS|GO:0017081;chloride channel regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SGK2	https://www.uniprot.org/uniprot/Q9HBY8		https://www.ncbi.nlm.nih.gov/omim/?term=607589	http://www.informatics.jax.org/searchtool/Search.do?query=SGK2&submit=Quick%0D%2642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGK2	rs763227	0.724241	0.7146	0.7604	1	0	0	intronic	intronic	intronic	SGK2	SGK2	ENSG00000101049	Na	Na	Na	Na	Na	Na	Het;G>A	663;52|36	Hom;G>A	1715;0|64
N	N	-	20	42225114	42225114	G	A	snp	synonymous SNV	G159A	V53V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IFT52	Ift52	ENSG00000101052	intraflagellar transport 52	chr20:42219571-42275936		SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10.	Intraflagellar transport	GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA	GO:0008022;protein C-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IFT52	https://www.uniprot.org/uniprot/Q9Y366	https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617094	http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52	rs2664519	0.744409	0.7420	0.7806	1	0	0	exonic	exonic	exonic	IFT52	IFT52	ENSG00000101052	synonymous SNV	synonymous SNV	unknown	IFT52:NM_001303458:exon3:c.G159A:p.V53V,IFT52:NM_016004:exon3:c.G159A:p.V53V,IFT52:NM_001303459:exon3:c.G159A:p.V53V,	IFT52:uc002xkz.3:exon3:c.G159A:p.V53V,IFT52:uc002xkw.3:exon3:c.G159A:p.V53V,	UNKNOWN	Het;G>A	721;61|37	Hom;G>A	1493;1|61
N	N	-	20	42242700	42242700	C	T	snp	intronic	 	 	 	 	IFT52	Ift52	ENSG00000101052	intraflagellar transport 52	chr20:42219571-42275936		SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10.	Intraflagellar transport	GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA	GO:0008022;protein C-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IFT52	https://www.uniprot.org/uniprot/Q9Y366	https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617094	http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52	rs4473450	0.761182	0	0	1	0	0	intronic	intronic	intronic	IFT52	IFT52	ENSG00000101052	Na	Na	Na	Na	Na	Na	Het;C>T	439;14|17	Hom;C>T	972;0|29
N	N	-	20	42264502	42264502	G	A	snp	intronic	 	 	 	 	IFT52	Ift52	ENSG00000101052	intraflagellar transport 52	chr20:42219571-42275936		SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10.	Intraflagellar transport	GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA	GO:0008022;protein C-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IFT52	https://www.uniprot.org/uniprot/Q9Y366	https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617094	http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52	rs6031007	0.7502	0	0	1	0	0	intronic	intronic	intronic	IFT52	IFT52	ENSG00000101052	Na	Na	Na	Na	Na	Na	Het;G>A	307;8|12	Hom;G>A	361;0|14
N	N	-	20	42264726	42264726	T	C	snp	intronic	 	 	 	 	IFT52	Ift52	ENSG00000101052	intraflagellar transport 52	chr20:42219571-42275936		SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10.	Intraflagellar transport	GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA	GO:0008022;protein C-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IFT52	https://www.uniprot.org/uniprot/Q9Y366	https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617094	http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52	rs2273523	0.763778	0	0	1	0	0	intronic	intronic	intronic	IFT52	IFT52	ENSG00000101052	Na	Na	Na	Na	Na	Na	Het;T>C	242;7|12	Hom;T>C	450;0|14
N	N	-	20	42265700	42265700	T	C	snp	intronic	 	 	 	 	IFT52	Ift52	ENSG00000101052	intraflagellar transport 52	chr20:42219571-42275936		SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10.	Intraflagellar transport	GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA	GO:0008022;protein C-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IFT52	https://www.uniprot.org/uniprot/Q9Y366	https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617094	http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52	rs6065638	0.873003	0	0	1	0	0	intronic	intronic	intronic	IFT52	IFT52	ENSG00000101052	Na	Na	Na	Na	Na	Na	Het;T>C	290;7|10	Hom;T>C	213;0|6
N	N	-	20	42265966	42265966	G	A	snp	intronic	 	 	 	 	IFT52	Ift52	ENSG00000101052	intraflagellar transport 52	chr20:42219571-42275936		SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10.	Intraflagellar transport	GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA	GO:0008022;protein C-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IFT52	https://www.uniprot.org/uniprot/Q9Y366	https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617094	http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52	rs6031008	0.733427	0	0	1	0	0	intronic	intronic	intronic	IFT52	IFT52	ENSG00000101052	Na	Na	Na	Na	Na	Na	Het;G>A	288;11|15	Hom;G>A	951;0|33
N	N	-	20	42271374	42271374	T	G	snp	intronic	 	 	 	 	IFT52	Ift52	ENSG00000101052	intraflagellar transport 52	chr20:42219571-42275936		SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10.	Intraflagellar transport	GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA	GO:0008022;protein C-terminus binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IFT52	https://www.uniprot.org/uniprot/Q9Y366	https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617094	http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52	rs426197	0.761981	0	0	1	0	0	intronic	intronic	intronic	IFT52	IFT52	ENSG00000101052	Na	Na	Na	Na	Na	Na	Het;T>G	300;6|9	Hom;T>G	535;0|17
N	N	-	20	42302371	42302371	C	T	snp	intronic	 	 	 	 	MYBL2	Mybl2	ENSG00000101057	MYB proto-oncogene like 2	chr20:42295754-42345136	The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	lung cancer ; bladder cancer; chronic obstructive pulmonary disease; lung cancer	Mice homozygous for disruptions in this gene die as embryos shortly after implantation.	TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030154;cell differentiation;IBA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051726;regulation of cell cycle;TAS|GO:0090307;mitotic spindle assembly;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0031523;Myb complex;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYBL2	https://www.uniprot.org/uniprot/P10244		https://www.ncbi.nlm.nih.gov/omim/?term=601415	http://www.informatics.jax.org/searchtool/Search.do?query=MYBL2&submit=Quick%0D%2644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBL2	rs826950	0.776558	0.8104	0.8290	1	0	0	intronic	intronic	intronic	MYBL2	MYBL2	ENSG00000101057	Na	Na	Na	Na	Na	Na	Het;C>T	63;8|4	Hom;C>T	349;0|12
N	N	-	20	42310509	42310509	T	C	snp	intronic	 	 	 	 	MYBL2	Mybl2	ENSG00000101057	MYB proto-oncogene like 2	chr20:42295754-42345136	The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	lung cancer ; bladder cancer; chronic obstructive pulmonary disease; lung cancer	Mice homozygous for disruptions in this gene die as embryos shortly after implantation.	TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030154;cell differentiation;IBA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051726;regulation of cell cycle;TAS|GO:0090307;mitotic spindle assembly;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0031523;Myb complex;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYBL2	https://www.uniprot.org/uniprot/P10244		https://www.ncbi.nlm.nih.gov/omim/?term=601415	http://www.informatics.jax.org/searchtool/Search.do?query=MYBL2&submit=Quick%0D%2644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBL2	rs442143	0.825679	0.8537	0.8496	1	0	0	intronic	intronic	intronic	MYBL2	MYBL2	ENSG00000101057	Na	Na	Na	Na	Na	Na	Het;T>C	421;27|22	Hom;T>C	1213;0|46
N	N	-	20	42966025	42966025	T	C	snp	synonymous SNV	T228C	S76S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	R3HDML	R3hdml	ENSG00000101074	R3H domain containing like	chr20:42965626-42979875			 		GO:0010466;negative regulation of peptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/R3HDML	https://www.uniprot.org/uniprot/Q9H3Y0			http://www.informatics.jax.org/searchtool/Search.do?query=R3HDML&submit=Quick%0D%2645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=R3HDML	rs1884612	0.246805	0.2816	0.2821	1	0	0	exonic	exonic	exonic	R3HDML	R3HDML	ENSG00000101074	synonymous SNV	synonymous SNV	unknown	R3HDML:NM_178491:exon1:c.T228C:p.S76S,	R3HDML:uc002xls.2:exon1:c.T228C:p.S76S,	UNKNOWN	Het;T>C	1051;65|53	Hom;T>C	1931;0|72
N	N	-	20	42972275	42972275	G	A	snp	intronic	 	 	 	 	R3HDML	R3hdml	ENSG00000101074	R3H domain containing like	chr20:42965626-42979875			 		GO:0010466;negative regulation of peptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/R3HDML	https://www.uniprot.org/uniprot/Q9H3Y0			http://www.informatics.jax.org/searchtool/Search.do?query=R3HDML&submit=Quick%0D%2645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=R3HDML	rs4812826	0.416534	0	0	1	0	0	intronic	intronic	intronic	R3HDML	R3HDML	ENSG00000101074	Na	Na	Na	Na	Na	Na	Het;G>A	151;7|6	Hom;G>A	199;0|6
N	N	-	20	43043051	43043051	C	G	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs3212194	0.0990415	0	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;C>G	55;5|3	Hom;C>G	330;0|11
N	N	-	20	43043095	43043095	G	A	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs3212195	0.142772	0.2006	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;G>A	423;18|18	Hom;G>A	834;0|28
N	N	-	20	43047293	43047293	A	G	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs6103731	0.454073	0	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;A>G	325;14|12	Hom;A>G	971;0|27
N	N	-	20	43047348	43047348	G	A	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs11086925	0.0680911	0	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;G>A	138;2|6	Hom;G>A	117;0|5
N	N	-	20	43048685	43048685	A	G	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs3212201	0.448283	0	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;A>G	240;1|7	Hom;A>G	225;0|7
N	N	-	20	43052570	43052570	T	C	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs2273618	0.499201	0	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;T>C	131;9|5	Hom;T>C	335;0|9
N	N	-	20	43058012	43058012	A	C	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs74173201	0.0597045	0	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;A>C	40;3|2	Hom;A>C	95;0|3
N	N	-	20	43058096	43058096	C	G	snp	intronic	 	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs3746575	0.498802	0	0	1	0	0	intronic	intronic	intronic	HNF4A	HNF4A	ENSG00000101076	Na	Na	Na	Na	Na	Na	Het;C>G	281;8|12	Hom;C>G	719;0|26
N	N	-	20	43058697	43058697	T	G	snp	UTR3	*1584T>G	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs11086926	0.124002	0	0	1	0	0	UTR3	UTR3	UTR3	HNF4A(NM_001030003:c.*392T>G,NM_175914:c.*392T>G,NM_001287182:c.*392T>G,NM_001287183:c.*392T>G,NM_001258355:c.*392T>G,NM_178849:c.*392T>G,NM_000457:c.*392T>G)	HNF4A(uc002xlu.4:c.*392T>G,uc002xlv.4:c.*392T>G,uc010ggq.4:c.*392T>G,uc002xlz.4:c.*392T>G,uc002xma.4:c.*392T>G)	ENSG00000101076(ENST00000372920:c.*1584T>G,ENST00000316099:c.*392T>G,ENST00000415691:c.*392T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	1702;76|71	Hom;T>G	3741;1|137
N	N	-	20	43059211	43059211	A	C	snp	UTR3	*2098A>C	 	 	 	HNF4A	Hnf4a	ENSG00000101076	hepatocyte nuclear factor 4 alpha	chr20:42984340-43061485	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]	Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic	Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNF4A	https://www.uniprot.org/uniprot/P41235	https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600281	http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A	rs3212210	0.571286	0	0	1	0	0	UTR3	UTR3	UTR3	HNF4A(NM_001030003:c.*906A>C,NM_175914:c.*906A>C,NM_001287182:c.*906A>C,NM_001287183:c.*906A>C,NM_001258355:c.*906A>C,NM_178849:c.*906A>C,NM_000457:c.*906A>C)	HNF4A(uc002xlu.4:c.*906A>C,uc002xlv.4:c.*906A>C,uc010ggq.4:c.*906A>C,uc002xlz.4:c.*906A>C,uc002xma.4:c.*906A>C)	ENSG00000101076(ENST00000372920:c.*2098A>C,ENST00000316099:c.*906A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	75;9|6	Hom;A>C	218;0|6
N	N	-	20	43566787	43566787	A	G	snp	synonymous SNV	A393G	S131S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PABPC1L	Pabpc1l	ENSG00000101104	poly(A) binding protein cytoplasmic 1 like	chr20:43538703-43587676			Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility.		GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L	https://www.uniprot.org/uniprot/Q4VXU2			http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L	rs11780	0.446685	0.4440	0.3923	0.25	2	8	exonic	exonic	exonic	PABPC1L	PABPC1L	ENSG00000101104	synonymous SNV	synonymous SNV	unknown	PABPC1L:NM_001124756:exon13:c.A1731G:p.S577S,	PABPC1L:uc002xmw.2:exon4:c.A393G:p.S131S,PABPC1L:uc002xmx.3:exon4:c.A393G:p.S131S,PABPC1L:uc010ggv.1:exon13:c.A1731G:p.S577S,	UNKNOWN	Het;A>G	261;14|14	Hom;A>G	969;0|39
N	N	-	20	43956191	43956191	T	C	snp	intronic	 	 	 	 	SDC4	Sdc4	ENSG00000124145	syndecan 4	chr20:43953928-43977064	The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]	Varicose Ulcer; Cholesterol, LDL; atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; Psoriasis	Mice homozygous or heterozygous for a knock-out allele show delayed wound healing and impaired angiogenesis. Homozygotes for a different knock-out allele exhibit degenerated fetal vessels in the placental labyrinth, abnormal cell adhesion, and high susceptibility to induced renal and hepatic injury.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0001657;ureteric bud development;IEA|GO:0001843;neural tube closure;IEA|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0010762;regulation of fibroblast migration;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0042060;wound healing;IEA|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0050900;leukocyte migration;TAS|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0051894;positive regulation of focal adhesion assembly;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005925;focal adhesion;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043034;costamere;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0001968;fibronectin binding;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0070053;thrombospondin receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/SDC4	https://www.uniprot.org/uniprot/P31431		https://www.ncbi.nlm.nih.gov/omim/?term=600017	http://www.informatics.jax.org/searchtool/Search.do?query=SDC4&submit=Quick%0D%5597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDC4	rs2076025	0.496605	0	0	1	0	0	intronic	intronic	intronic	SDC4	SDC4	ENSG00000124145	Na	Na	Na	Na	Na	Na	Het;T>C	135;12|7	Hom;T>C	185;0|6
N	N	-	20	44174423	44174423	G	A	snp	unknown	 	 	 	 	EPPIN	Wfdc6a	ENSG00000101448	epididymal peptidase inhibitor	chr20:44165625-44176391	This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]	Infertility, Male	 	Antimicrobial peptides	GO:0010466;negative regulation of peptidase activity;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0042742;defense response to bacterium;IDA|GO:0051259;protein oligomerization;IDA|GO:0090281;negative regulation of calcium ion import;IMP|GO:1901318;negative regulation of flagellated sperm motility;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0043234;protein complex;IDA|GO:0097524;sperm plasma membrane;TAS	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPPIN	https://www.uniprot.org/uniprot/O95925		https://www.ncbi.nlm.nih.gov/omim/?term=609031	http://www.informatics.jax.org/searchtool/Search.do?query=EPPIN&submit=Quick%0D%2746ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPIN	rs765156	0.670927	0.6912	0.6759	1	0	0	intronic	intronic	exonic	EPPIN,EPPIN-WFDC6	EPPIN,EPPIN-WFDC6	ENSG00000101448	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	1025;84|53	Hom;G>A	2989;0|112
N	N	-	20	44191024	44191024	A	G	snp	intronic	 	 	 	 	WFDC8	Wfdc8	ENSG00000158901	WAP four-disulfide core domain 8	chr20:44179792-44207965	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]		 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WFDC8				http://www.informatics.jax.org/searchtool/Search.do?query=WFDC8&submit=Quick%0D%10270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC8	rs909879	0.483027	0	0	1	0	0	intronic	intronic	intronic	WFDC8	WFDC8	ENSG00000158901	Na	Na	Na	Na	Na	Na	Het;A>G	149;2|6	Hom;A>G	179;0|6
N	N	-	20	44374505	44374506	TC	T	indel	ncRNA_exonic	 	 	 	 	HNRNPA1P3																		rs35009905	0.521765	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SPINT4(dist=20170),WFDC3(dist=28341)	SPINT4(dist=20170),WFDC3(dist=28341)	ENSG00000226188	Na	Na	Na	Na	Na	Na	Het;-C	269;7|10	Hom;-C	566;0|17
N	N	-	20	44374747	44374747	C	T	snp	ncRNA_exonic	 	 	 	 	HNRNPA1P3																		rs454402	0.5	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SPINT4(dist=20412),WFDC3(dist=28100)	SPINT4(dist=20412),WFDC3(dist=28100)	ENSG00000226188	Na	Na	Na	Na	Na	Na	Het;C>T	93;3|6	Hom;C>T	239;0|11
N	N	-	20	44417643	44417643	A	G	snp	synonymous SNV	T138C	G46G	aliphatic,neutral	aliphatic,neutral	WFDC3	Wfdc3	ENSG00000124116	WAP four-disulfide core domain 3	chr20:44376583-44420571	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]		 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WFDC3	https://www.uniprot.org/uniprot/Q8IUB2			http://www.informatics.jax.org/searchtool/Search.do?query=WFDC3&submit=Quick%0D%5591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC3	rs6032537	0.654553	0.6971	0.6888	1	0	0	exonic	exonic	exonic	WFDC3	WFDC3	ENSG00000124116	synonymous SNV	synonymous SNV	unknown	WFDC3:NM_080614:exon3:c.T138C:p.G46G,	WFDC3:uc002xpf.1:exon3:c.T138C:p.G46G,	UNKNOWN	Het;A>G	593;55|35	Hom;A>G	1828;0|71
N	N	-	20	44417675	44417675	G	C	snp	nonsynonymous SNV	C106G	H36D	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	WFDC3	Wfdc3	ENSG00000124116	WAP four-disulfide core domain 3	chr20:44376583-44420571	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]		 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WFDC3	https://www.uniprot.org/uniprot/Q8IUB2			http://www.informatics.jax.org/searchtool/Search.do?query=WFDC3&submit=Quick%0D%5591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC3	rs6032538	0.654553	0.6972	0.6887	0.08	1	13	exonic	exonic	exonic	WFDC3	WFDC3	ENSG00000124116	nonsynonymous SNV	nonsynonymous SNV	unknown	WFDC3:NM_080614:exon3:c.C106G:p.H36D,	WFDC3:uc002xpf.1:exon3:c.C106G:p.H36D,	UNKNOWN	Het;G>C	544;48|32	Hom;G>C	1354;0|50
N	N	-	20	44418471	44418471	G	C	snp	intronic	 	 	 	 	WFDC3	Wfdc3	ENSG00000124116	WAP four-disulfide core domain 3	chr20:44376583-44420571	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]		 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WFDC3	https://www.uniprot.org/uniprot/Q8IUB2			http://www.informatics.jax.org/searchtool/Search.do?query=WFDC3&submit=Quick%0D%5591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC3	rs411945	0.670327	0	0	1	0	0	intronic	intronic	intronic	WFDC3	WFDC3	ENSG00000124116	Na	Na	Na	Na	Na	Na	Het;G>C	250;13|11	Hom;G>C	668;0|22
N	N	-	20	44418564	44418564	A	G	snp	synonymous SNV	T51C	S17S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	WFDC3	Wfdc3	ENSG00000124116	WAP four-disulfide core domain 3	chr20:44376583-44420571	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]		 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WFDC3	https://www.uniprot.org/uniprot/Q8IUB2			http://www.informatics.jax.org/searchtool/Search.do?query=WFDC3&submit=Quick%0D%5591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC3	rs3746493	0.626398	0.6495	0.6435	1	0	0	exonic	exonic	exonic	WFDC3	WFDC3	ENSG00000124116	synonymous SNV	synonymous SNV	unknown	WFDC3:NM_080614:exon2:c.T51C:p.S17S,	WFDC3:uc002xpf.1:exon2:c.T51C:p.S17S,	UNKNOWN	Het;A>G	899;44|46	Hom;A>G	1945;0|70
N	N	-	20	44420682	44420682	T	C	snp	synonymous SNV	T39C	P13P	hydrophobic,neutral	hydrophobic,neutral	DNTTIP1	Dnttip1	ENSG00000101457	deoxynucleotidyltransferase terminal interacting protein 1	chr20:44420576-44440066	DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]	Lipoproteins, HDL	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA	GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IDA|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNTTIP1	https://www.uniprot.org/uniprot/Q9H147		https://www.ncbi.nlm.nih.gov/omim/?term=611388	http://www.informatics.jax.org/searchtool/Search.do?query=DNTTIP1&submit=Quick%0D%2748ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNTTIP1	rs2664591	0.670527	0.7530	0.7302	1	0	0	exonic	exonic	exonic	DNTTIP1	DNTTIP1	ENSG00000101457	synonymous SNV	synonymous SNV	unknown	DNTTIP1:NM_052951:exon1:c.T39C:p.P13P,	DNTTIP1:uc002xpk.3:exon1:c.T39C:p.P13P,	UNKNOWN	Het;T>C	122;6|7	Hom;T>C	160;0|7
N	N	-	20	44451901	44451901	T	C	snp	UTR3	*86A>G	 	 	 	TNNC2	Tnnc2	ENSG00000101470	troponin C2, fast skeletal type	chr20:44451853-44462384	Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 	Striated Muscle Contraction	GO:0003009;skeletal muscle contraction;IDA|GO:0006937;regulation of muscle contraction;TAS|GO:0030049;muscle filament sliding;TAS	GO:0005829;cytosol;TAS|GO:0005861;troponin complex;IDA	GO:0003779;actin binding;IDA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IBA|GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TNNC2	https://www.uniprot.org/uniprot/P02585		https://www.ncbi.nlm.nih.gov/omim/?term=191039	http://www.informatics.jax.org/searchtool/Search.do?query=TNNC2&submit=Quick%0D%2752ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNNC2	rs8860	0.628594	0	0	1	0	0	UTR3	UTR3	UTR3	TNNC2(NM_003279:c.*86A>G)	TNNC2(uc002xpr.3:c.*86A>G)	ENSG00000101470(ENST00000372557:c.*86A>G,ENST00000372555:c.*86A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	296;15|12	Hom;T>C	717;0|27
N	N	-	20	44517360	44517360	T	C	snp	UTR3	*123A>G	 	 	 	NEURL2	Neurl2	ENSG00000124257	neuralized E3 ubiquitin protein ligase 2	chr20:44517264-44519926	This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]	Muscular Dystrophies, Limb-Girdle	Homozygous null mice display myofiber abnormalities in skeletal muscle and decreased body weight.	Neddylation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS		http://www.genecards.org/index.php?path=/Search/keyword/NEURL2	https://www.uniprot.org/uniprot/Q9BR09		https://www.ncbi.nlm.nih.gov/omim/?term=608597	http://www.informatics.jax.org/searchtool/Search.do?query=NEURL2&submit=Quick%0D%5637ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL2	rs1516580	0.616014	0.6003	0.6267	1	0	0	UTR3	UTR3	UTR3	NEURL2(NM_080749:c.*37A>G,NM_001278535:c.*123A>G)	NEURL2(uc002xqg.2:c.*37A>G)	ENSG00000124257(ENST00000545238:c.*123A>G,ENST00000372518:c.*37A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	100;6|4	Hom;T>C	385;0|13
N	N	-	20	44518843	44518843	A	T	snp	UTR5	-1122A>T	 	 	 	CTSA	Ctsa	ENSG00000064601	cathepsin A	chr20:44518783-44527459	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]	GALACTOSIALIDOSIS	Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months.	Neutrophil degranulation	GO:0006508;proteolysis;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006886;intracellular protein transport;TAS|GO:0031647;regulation of protein stability;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1904715;negative regulation of chaperone-mediated autophagy;IGI	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0098575;lumenal side of lysosomal membrane;TAS	GO:0001948;glycoprotein binding;IEA|GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0004308;exo-alpha-sialidase activity;TAS|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSA	https://www.uniprot.org/uniprot/P10619	https://hpo.jax.org/app/browse/search?q=CTSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613111	http://www.informatics.jax.org/searchtool/Search.do?query=CTSA&submit=Quick%0D%1135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSA	rs3817731	0.588658	0.5714	0.6169	1	0	0	intronic	intronic	UTR5	NEURL2	NEURL2	ENSG00000064601(ENST00000606788:c.-1122A>T)	Na	Na	Na	Na	Na	Na	Het;A>T	945;32|46	Hom;A>T	2972;0|108
N	N	-	20	44522005	44522005	A	G	snp	ncRNA_exonic	 	 	 	 	AL008726.1																		rs742034	0.61222	0.5979	0	1	0	0	intronic	intronic	ncRNA_exonic	CTSA	CTSA	ENSG00000271984	Na	Na	Na	Na	Na	Na	Het;A>G	156;3|7	Hom;A>G	605;0|20
N	N	-	20	44522594	44522594	A	G	snp	intronic	 	 	 	 	CTSA	Ctsa	ENSG00000064601	cathepsin A	chr20:44518783-44527459	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]	GALACTOSIALIDOSIS	Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months.	Neutrophil degranulation	GO:0006508;proteolysis;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006886;intracellular protein transport;TAS|GO:0031647;regulation of protein stability;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1904715;negative regulation of chaperone-mediated autophagy;IGI	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0098575;lumenal side of lysosomal membrane;TAS	GO:0001948;glycoprotein binding;IEA|GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0004308;exo-alpha-sialidase activity;TAS|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSA	https://www.uniprot.org/uniprot/P10619	https://hpo.jax.org/app/browse/search?q=CTSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613111	http://www.informatics.jax.org/searchtool/Search.do?query=CTSA&submit=Quick%0D%1135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSA	rs4810476	0.680112	0.6372	0.6610	1	0	0	intronic	intronic	intronic	CTSA	CTSA	ENSG00000064601	Na	Na	Na	Na	Na	Na	Het;A>G	356;17|18	Hom;A>G	980;0|34
N	N	-	20	44523248	44523248	T	C	snp	intronic	 	 	 	 	CTSA	Ctsa	ENSG00000064601	cathepsin A	chr20:44518783-44527459	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]	GALACTOSIALIDOSIS	Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months.	Neutrophil degranulation	GO:0006508;proteolysis;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006886;intracellular protein transport;TAS|GO:0031647;regulation of protein stability;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1904715;negative regulation of chaperone-mediated autophagy;IGI	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0098575;lumenal side of lysosomal membrane;TAS	GO:0001948;glycoprotein binding;IEA|GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0004308;exo-alpha-sialidase activity;TAS|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSA	https://www.uniprot.org/uniprot/P10619	https://hpo.jax.org/app/browse/search?q=CTSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613111	http://www.informatics.jax.org/searchtool/Search.do?query=CTSA&submit=Quick%0D%1135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSA	rs2075962	0.626997	0.6068	0.6275	1	0	0	intronic	intronic	intronic	CTSA	CTSA	ENSG00000064601	Na	Na	Na	Na	Na	Na	Het;T>C	477;16|22	Hom;T>C	1019;0|33
N	N	-	20	44523547	44523547	G	A	snp	intronic	 	 	 	 	CTSA	Ctsa	ENSG00000064601	cathepsin A	chr20:44518783-44527459	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]	GALACTOSIALIDOSIS	Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months.	Neutrophil degranulation	GO:0006508;proteolysis;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006886;intracellular protein transport;TAS|GO:0031647;regulation of protein stability;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1904715;negative regulation of chaperone-mediated autophagy;IGI	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0098575;lumenal side of lysosomal membrane;TAS	GO:0001948;glycoprotein binding;IEA|GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0004308;exo-alpha-sialidase activity;TAS|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSA	https://www.uniprot.org/uniprot/P10619	https://hpo.jax.org/app/browse/search?q=CTSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613111	http://www.informatics.jax.org/searchtool/Search.do?query=CTSA&submit=Quick%0D%1135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSA	rs2075961	0.678315	0.6349	0.6602	1	0	0	intronic	intronic	intronic	CTSA	CTSA	ENSG00000064601	Na	Na	Na	Na	Na	Na	Het;G>A	1537;57|68	Hom;G>A	4518;0|164
N	N	-	20	44523782	44523782	C	T	snp	intronic	 	 	 	 	CTSA	Ctsa	ENSG00000064601	cathepsin A	chr20:44518783-44527459	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]	GALACTOSIALIDOSIS	Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months.	Neutrophil degranulation	GO:0006508;proteolysis;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006886;intracellular protein transport;TAS|GO:0031647;regulation of protein stability;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1904715;negative regulation of chaperone-mediated autophagy;IGI	GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0098575;lumenal side of lysosomal membrane;TAS	GO:0001948;glycoprotein binding;IEA|GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0004308;exo-alpha-sialidase activity;TAS|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSA	https://www.uniprot.org/uniprot/P10619	https://hpo.jax.org/app/browse/search?q=CTSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613111	http://www.informatics.jax.org/searchtool/Search.do?query=CTSA&submit=Quick%0D%1135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSA	rs4608591	0.679912	0.6366	0.6608	1	0	0	intronic	intronic	intronic	CTSA	CTSA	ENSG00000064601	Na	Na	Na	Na	Na	Na	Het;C>T	1682;80|78	Hom;C>T	3585;0|132
N	N	-	20	44530838	44530838	G	T	snp	intronic	 	 	 	 	PLTP	Pltp	ENSG00000100979	phospholipid transfer protein	chr20:44527399-44540794	The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	HDL cholesterol; Hyperlipoproteinemias; Alzheimer's disease; plasma HDL cholesterol (HDL-C) levels; cholesterol, HDL cholesterol, LDL; Triglycerides; Hyperlipidemias; cholesterol, HDL; hypoalphalipoproteinemia; triglyceride; null; Type 2 diabetes; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone; dementia; Lipoproteins, HDL; atherosclerosis; Lipid Metabolism; triglycerides; Cholesterol, HDL; obesity; Dyslipidemias|Syndrome	Mice homozygous for disruptions in this gene have lower levels of circulating HDL and exhibit symptoms of dry eye syndrome such as corneal epithelial damage.	HDL remodeling	GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010189;vitamin E biosynthetic process;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0030317;flagellated sperm motility;IEA|GO:0034375;high-density lipoprotein particle remodeling;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA	GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLTP	https://www.uniprot.org/uniprot/P55058		https://www.ncbi.nlm.nih.gov/omim/?term=172425	http://www.informatics.jax.org/searchtool/Search.do?query=PLTP&submit=Quick%0D%2628ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLTP	rs553359	0.66853	0	0	1	0	0	intronic	intronic	intronic	PLTP	PLTP	ENSG00000100979	Na	Na	Na	Na	Na	Na	Het;G>T	254;21|12	Hom;G>T	748;0|25
N	N	-	20	44578776	44578776	A	G	snp	intronic	 	 	 	 	ZNF335	Zfp335	ENSG00000198026	zinc finger protein 335	chr20:44577292-44600833	The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0001701;in utero embryonic development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IMP|GO:0010468;regulation of gene expression;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0048812;neuron projection morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IMP|GO:0050767;regulation of neurogenesis;IEA|GO:0050769;positive regulation of neurogenesis;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0035097;histone methyltransferase complex;IEA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF335		https://hpo.jax.org/app/browse/search?q=ZNF335&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610827	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF335&submit=Quick%0D%16789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF335	rs6065910	0.860024	0	0	1	0	0	intronic	intronic	intronic	ZNF335	ZNF335	ENSG00000198026	Na	Na	Na	Na	Na	Na	Het;A>G	577;15|19	Hom;A>G	1130;0|33
N	N	-	20	44586036	44586036	G	A	snp	intronic	 	 	 	 	ZNF335	Zfp335	ENSG00000198026	zinc finger protein 335	chr20:44577292-44600833	The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0001701;in utero embryonic development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IMP|GO:0010468;regulation of gene expression;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0048812;neuron projection morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IMP|GO:0050767;regulation of neurogenesis;IEA|GO:0050769;positive regulation of neurogenesis;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0035097;histone methyltransferase complex;IEA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF335		https://hpo.jax.org/app/browse/search?q=ZNF335&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610827	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF335&submit=Quick%0D%16789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF335	rs3746506	0.616014	0	0	1	0	0	intronic	intronic	intronic	ZNF335	ZNF335	ENSG00000198026	Na	Na	Na	Na	Na	Na	Het;G>A	100;1|4	Hom;G>A	149;0|5
N	N	-	20	44588109	44588109	G	A	snp	intronic	 	 	 	 	ZNF335	Zfp335	ENSG00000198026	zinc finger protein 335	chr20:44577292-44600833	The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0001701;in utero embryonic development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IMP|GO:0010468;regulation of gene expression;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0048812;neuron projection morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IMP|GO:0050767;regulation of neurogenesis;IEA|GO:0050769;positive regulation of neurogenesis;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0035097;histone methyltransferase complex;IEA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF335		https://hpo.jax.org/app/browse/search?q=ZNF335&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610827	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF335&submit=Quick%0D%16789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF335	rs3746507	0.860224	0.9462	0.9004	1	0	0	intronic	intronic	intronic	ZNF335	ZNF335	ENSG00000198026	Na	Na	Na	Na	Na	Na	Het;G>A	780;22|35	Hom;G>A	1644;0|56
N	N	-	20	44596207	44596207	C	G	snp	nonsynonymous SNV	G881C	S294T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF335	Zfp335	ENSG00000198026	zinc finger protein 335	chr20:44577292-44600833	The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0001701;in utero embryonic development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IMP|GO:0010468;regulation of gene expression;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0048812;neuron projection morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IMP|GO:0050767;regulation of neurogenesis;IEA|GO:0050769;positive regulation of neurogenesis;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0035097;histone methyltransferase complex;IEA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF335		https://hpo.jax.org/app/browse/search?q=ZNF335&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610827	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF335&submit=Quick%0D%16789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF335	rs6032606	0.777756	0.9245	0.8493	0.23	3	13	exonic	exonic	exonic	ZNF335	ZNF335	ENSG00000198026	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF335:NM_022095:exon6:c.G881C:p.S294T,	ZNF335:uc010zxk.2:exon3:c.G416C:p.S139T,ZNF335:uc002xqw.3:exon6:c.G881C:p.S294T,ZNF335:uc002xqy.3:exon2:c.G416C:p.S139T,ZNF335:uc002xqx.1:exon4:c.G785C:p.S262T,	UNKNOWN	Het;C>G	385;23|18	Hom;C>G	1469;2|51
N	N	-	20	44599839	44599839	G	C	snp	intronic	 	 	 	 	ZNF335	Zfp335	ENSG00000198026	zinc finger protein 335	chr20:44577292-44600833	The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0001701;in utero embryonic development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IMP|GO:0010468;regulation of gene expression;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0048812;neuron projection morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IMP|GO:0050767;regulation of neurogenesis;IEA|GO:0050769;positive regulation of neurogenesis;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0035097;histone methyltransferase complex;IEA	GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF335		https://hpo.jax.org/app/browse/search?q=ZNF335&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610827	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF335&submit=Quick%0D%16789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF335	rs6017715	0.859824	0.9542	0.8938	1	0	0	intronic	intronic	intronic	ZNF335	ZNF335	ENSG00000198026	Na	Na	Na	Na	Na	Na	Het;G>C	559;20|29	Hom;G>C	798;0|30
N	N	-	20	44660699	44660699	T	G	snp	intronic	 	 	 	 	SLC12A5	Slc12a5	ENSG00000124140	solute carrier family 12 member 5	chr20:44650356-44688784	K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]	BMI; Tobacco Use Disorder; Cleft Lip|Cleft Palate|Tooth Abnormalities; diabetes, type 2	Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures.	Cation-coupled Chloride cotransporters	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006873;cellular ion homeostasis;NAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007612;learning;IEA|GO:0030644;cellular chloride ion homeostasis;IDA|GO:0035264;multicellular organism growth;IEA|GO:0040040;thermosensory behavior;IEA|GO:0042493;response to drug;IEA|GO:0055085;transmembrane transport;IEA|GO:0060996;dendritic spine development;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA	GO:0005215;transporter activity;IEA|GO:0015108;chloride transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A5	https://www.uniprot.org/uniprot/Q9H2X9	https://hpo.jax.org/app/browse/search?q=SLC12A5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606726	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A5&submit=Quick%0D%5595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A5	rs3859613	0.403155	0	0	1	0	0	intronic	intronic	intronic	SLC12A5	SLC12A5	ENSG00000124140	Na	Na	Na	Na	Na	Na	Het;T>G	104;5|6	Hom;T>G	459;0|19
N	N	-	20	45192253	45192253	G	GA	indel	UTR5	-96C>TC	 	 	 	SLC13A3	Slc13a3	ENSG00000158296	solute carrier family 13 member 3	chr20:45186463-45304714	Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]	Body Height; diabetes, type 2	 	Sodium-coupled sulphate, di- and tri-carboxylate transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006835;dicarboxylic acid transport;IEA|GO:0015746;citrate transport;IBA|GO:0055085;transmembrane transport;IEA|GO:0071422;succinate transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015137;citrate transmembrane transporter activity;IBA|GO:0015141;succinate transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA|GO:0015362;high-affinity sodium:dicarboxylate symporter activity;TAS|GO:0017153;sodium:dicarboxylate symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC13A3			https://www.ncbi.nlm.nih.gov/omim/?term=606411	http://www.informatics.jax.org/searchtool/Search.do?query=SLC13A3&submit=Quick%0D%10191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC13A3	rs59207395	0	0	0	1	0	0	intronic	UTR5	intronic	SLC13A3	SLC13A3(uc002xse.2:c.-96C>TC)	ENSG00000158296	Na	Na	Na	Na	Na	Na	Het;+A	1021;33|31	Hom;+A	2348;0|58
N	N	-	20	45432804	45432805	AG	A	indel	intergenic	 	 	 	 	SLC2A10	Slc2a10	ENSG00000197496	solute carrier family 2 member 10	chr20:45338126-45364965	This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]	diabetes, type 2; Body Fat Distribution; insulin; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes	Mice carrying ENU-induced mutations in this gene display thickening and aberrant vessel wall shape of large and medium size arteries, with significantly increased elastic fiber number and size. Cerebral arteries appear normal with no evidence of tortuosity, stenosis/dilatation or aneurysm.	Cellular hexose transport	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015758;glucose transport;NAS|GO:0015992;proton transport;IEA|GO:0035428;hexose transmembrane transport;IBA|GO:0046323;glucose import;IBA|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IEA|GO:0005351;sugar:proton symporter activity;NAS|GO:0005355;glucose transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0055056;D-glucose transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC2A10		https://hpo.jax.org/app/browse/search?q=SLC2A10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606145	http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A10&submit=Quick%0D%16642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A10	rs151283765	0.208067	0	0	1	0	0	intergenic	intergenic	intergenic	SLC2A10(dist=67819),EYA2(dist=90458)	SLC2A10(dist=67819),EYA2(dist=90458)	ENSG00000197496(dist=67839),ENSG00000266136(dist=6672)	Na	Na	Na	Na	Na	Na	Het;-G	111;5|5	Hom;-G	953;0|22
N	N	-	20	45464987	45464987	A	T	snp	intergenic	 	 	 	 	ENSG00000266136																		rs3092090	0.275559	0	0	1	0	0	intergenic	intergenic	intergenic	SLC2A10(dist=100002),EYA2(dist=58276)	SLC2A10(dist=100002),EYA2(dist=58276)	ENSG00000266136(dist=25426),ENSG00000222874(dist=22985)	Na	Na	Na	Na	Na	Na	Het;A>T	163;8|8	Hom;A>T	330;0|11
N	N	-	20	46365571	46365571	A	G	snp	synonymous SNV	T291C	T97T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SULF2	Sulf2	ENSG00000196562	sulfatase 2	chr20:46285092-46415360	Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]	Attention Deficit Disorder with Hyperactivity; Attention deficit hyperactivity disorder (time to onset); Atrial Fibrillation; Heart Failure; Inflammatory Bowel Diseases; Myocardial Infarction	Homozygous disruption of this gene may lead to a partially penetrant, strain-dependent phenotype of embryonic lethality, reduced postnatal body weight, lung abnormalities, brain malformations, and reduced fertility. Mice homozygous for a hypomorphic gene-trap allele display skeletal defects.		GO:0001822;kidney development;IEA|GO:0002063;chondrocyte development;IEA|GO:0003094;glomerular filtration;IEA|GO:0008152;metabolic process;IEA|GO:0009611;response to wounding;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0014846;esophagus smooth muscle contraction;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0032836;glomerular basement membrane development;IEA|GO:0035413;positive regulation of catenin import into nucleus;IEA|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;IEA|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0051216;cartilage development;IEA|GO:0060348;bone development;IEA|GO:0060384;innervation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA	GO:0005615;extracellular space;NAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA	GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SULF2			https://www.ncbi.nlm.nih.gov/omim/?term=610013	http://www.informatics.jax.org/searchtool/Search.do?query=SULF2&submit=Quick%0D%16402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF2	rs3810526	0.655751	0.6688	0.6142	1	0	0	exonic	exonic	exonic	SULF2	SULF2	ENSG00000196562	synonymous SNV	synonymous SNV	unknown	SULF2:NM_198596:exon3:c.T291C:p.T97T,SULF2:NM_001161841:exon3:c.T291C:p.T97T,SULF2:NM_018837:exon3:c.T291C:p.T97T,	SULF2:uc002xto.3:exon3:c.T291C:p.T97T,SULF2:uc002xtq.3:exon3:c.T291C:p.T97T,SULF2:uc010ghv.1:exon3:c.T291C:p.T97T,SULF2:uc002xtr.3:exon3:c.T291C:p.T97T,	UNKNOWN	Het;A>G	1385;82|66	Hom;A>G	3823;0|142
N	N	-	20	47874239	47874240	CT	C	indel	intronic	 	 	 	 	ZNFX1	Znfx1	ENSG00000124201	zinc finger NFX1-type containing 1	chr20:47854483-47894963			 		GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNFX1	https://www.uniprot.org/uniprot/Q9P2E3			http://www.informatics.jax.org/searchtool/Search.do?query=ZNFX1&submit=Quick%0D%5613ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNFX1	rs11295162	0.501198	0	0.4191	1	0	0	intronic	intronic	intronic	ZNFX1	ZNFX1	ENSG00000124201	Na	Na	Na	Na	Na	Na	Het;-T	208;2|12	Hom;-T	364;3|22
N	N	-	20	480620	480620	A	T	snp	intronic	 	 	 	 	CSNK2A1	Csnk2a1	ENSG00000101266	casein kinase 2 alpha 1	chr20:459116-524465	Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. While this gene is found on chromosome 20, a related transcribed pseudogene is found on chromosome 11. Three transcript variants encoding two different proteins have been found for this gene. [provided by RefSeq, Jul 2014]	colorectal cancer; schizophrenia | bipolar disorder; breast cancer; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for the null in the major catalytic subunit die by E11.5 and exhibit defects in neural, cardiac and limb development.	Regulation of PTEN stability and activity	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006457;protein folding;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0030307;positive regulation of cell growth;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0048511;rhythmic process;IEA|GO:0061077;chaperone-mediated protein folding;TAS|GO:0071174;mitotic spindle checkpoint;IMP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005956;protein kinase CK2 complex;IDA|GO:0016580;Sin3 complex;IDA|GO:0016581;NuRD complex;IDA|GO:0031519;PcG protein complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051879;Hsp90 protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CSNK2A1	https://www.uniprot.org/uniprot/P68400	https://hpo.jax.org/app/browse/search?q=CSNK2A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=115440	http://www.informatics.jax.org/searchtool/Search.do?query=CSNK2A1&submit=Quick%0D%2695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSNK2A1	rs205904	0.410942	0	0.3667	1	0	0	intronic	intronic	intronic	CSNK2A1	CSNK2A1	ENSG00000101266	Na	Na	Na	Na	Na	Na	Het;A>T	579;23|20	Hom;A>T	1885;4|50
N	N	-	20	48140682	48140682	C	T	snp	synonymous SNV	G768A	L256L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PTGIS	Ptgis	ENSG00000124212	prostaglandin I2 synthase	chr20:48120411-48184683	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]	Myocardial Infarction; lung cancer ; Respiratory Syncytial Virus Infections|Respiratory Tract Infections; epithelial ovarian cancer ; hypertension; Ventricular Remodeling; cardiovascular; esophageal adenocarcinoma; Chronic renal failure|Kidney Failure, Chronic; Brain Ischemia|Myocardial Infarction|Stroke; cerebral infarction; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease ; Hepatopulmonary Syndrome|Liver Cirrhosis; metabolic syndrome; breast cancer ; pulmonary hypertension; Hypertension; colon polyps; patent ductus arteriosus; Kidney Failure, Chronic; myocardial infarction	Homozygous mutation of this gene results in increased blood urea nitrogen and creatinine levels, thickening of the aorta with age, mildly increased blood pressure, and kidney abnormalities including cysts, fibrosis, necrosis, and renal vascular congestion.	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	GO:0001516;prostaglandin biosynthetic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006690;icosanoid metabolic process;TAS|GO:0006693;prostaglandin metabolic process;IEA|GO:0007566;embryo implantation;IEA|GO:0019371;cyclooxygenase pathway;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0035360;positive regulation of peroxisome proliferator activated receptor signaling pathway;IDA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IDA|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046697;decidualization;IEA|GO:0050728;negative regulation of inflammatory response;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0071347;cellular response to interleukin-1;IEP|GO:0071354;cellular response to interleukin-6;IEP|GO:0071456;cellular response to hypoxia;IDA|GO:0097190;apoptotic signaling pathway;IDA|GO:1900119;positive regulation of execution phase of apoptosis;IDA	GO:0005615;extracellular space;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005901;caveola;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008116;prostaglandin-I synthase activity;TAS|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016853;isomerase activity;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTGIS	https://www.uniprot.org/uniprot/Q16647	https://hpo.jax.org/app/browse/search?q=PTGIS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601699	http://www.informatics.jax.org/searchtool/Search.do?query=PTGIS&submit=Quick%0D%5619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGIS	rs5628	0.123802	0.0926	0.0812	1	0	0	exonic	exonic	exonic	PTGIS	PTGIS	ENSG00000124212	synonymous SNV	synonymous SNV	unknown	PTGIS:NM_000961:exon6:c.G768A:p.L256L,	PTGIS:uc002xut.3:exon6:c.G768A:p.L256L,PTGIS:uc010zyi.2:exon5:c.G351A:p.L117L,	UNKNOWN	Het;C>T	984;72|53	Hom;C>T	3365;2|134
N	N	-	20	48697791	48697791	T	A	snp	UTR3	*1514A>T	 	 	 	TMEM189-UBE2V1		ENSG00000124208	TMEM189-UBE2V1 readthrough	chr20:48697661-48770174	The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010]	Narcolepsy			GO:0006301;postreplication repair;IBA|GO:0070534;protein K63-linked ubiquitination;IBA	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM189-UBE2V1	https://www.uniprot.org/uniprot/I3L0A0			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM189-UBE2V1&submit=Quick%0D%5617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM189-UBE2V1	rs1049871	0.201478	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM189-UBE2V1(NM_199203:c.*1514A>T),UBE2V1(NM_021988:c.*1514A>T,NM_001257396:c.*1514A>T,NM_001257395:c.*1514A>T,NM_001257394:c.*1514A>T,NM_001257399:c.*1514A>T,NM_001257398:c.*1514A>T,NM_001257397:c.*1514A>T,NM_199144:c.*1514A>T,NM_001032288:c.*1514A>T,NM_001257393:c.*1514A>T,NM_022442:c.*1514A>T,NM_001282579:c.*1514A>T,NM_001282576:c.*1514A>T,NM_001282575:c.*1514A>T,NM_001282578:c.*1514A>T,NM_001282577:c.*1514A>T)	TMEM189-UBE2V1(uc002xvf.3:c.*1514A>T),UBE2V1(uc002xva.4:c.*1514A>T,uc031rty.1:c.*1514A>T,uc031rtz.1:c.*1514A>T,uc031rua.1:c.*1514A>T,uc031ruc.1:c.*1514A>T,uc031rud.1:c.*1514A>T,uc031rue.1:c.*1514A>T,uc031ruf.1:c.*1514A>T,uc002xvd.4:c.*1514A>T,uc002xvc.4:c.*1514A>T,uc002xve.4:c.*1514A>T,uc031rug.1:c.*1514A>T)	ENSG00000124208(ENST00000341698:c.*1514A>T),ENSG00000240849(ENST00000557021:c.*1514A>T),ENSG00000244687(ENST00000420027:c.*1514A>T,ENST00000371677:c.*1514A>T,ENST00000415862:c.*1514A>T,ENST00000340309:c.*1514A>T,ENST00000371674:c.*1514A>T,ENST00000371657:c.*1514A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	1513;62|81	Hom;T>A	2686;0|105
N	N	-	20	48698923	48698923	G	A	snp	UTR3	*382C>T	 	 	 	TMEM189-UBE2V1		ENSG00000124208	TMEM189-UBE2V1 readthrough	chr20:48697661-48770174	The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010]	Narcolepsy			GO:0006301;postreplication repair;IBA|GO:0070534;protein K63-linked ubiquitination;IBA	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM189-UBE2V1	https://www.uniprot.org/uniprot/I3L0A0			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM189-UBE2V1&submit=Quick%0D%5617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM189-UBE2V1	rs8585	0.36861	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM189-UBE2V1(NM_199203:c.*382C>T),UBE2V1(NM_021988:c.*382C>T,NM_001257396:c.*382C>T,NM_001257395:c.*382C>T,NM_001257394:c.*382C>T,NM_001257399:c.*382C>T,NM_001257398:c.*382C>T,NM_001257397:c.*382C>T,NM_199144:c.*382C>T,NM_001032288:c.*382C>T,NM_001257393:c.*382C>T,NM_022442:c.*382C>T,NM_001282579:c.*382C>T,NM_001282576:c.*382C>T,NM_001282575:c.*382C>T,NM_001282578:c.*382C>T,NM_001282577:c.*382C>T)	TMEM189-UBE2V1(uc002xvf.3:c.*382C>T),UBE2V1(uc002xva.4:c.*382C>T,uc031rty.1:c.*382C>T,uc031rtz.1:c.*382C>T,uc031rua.1:c.*382C>T,uc031ruc.1:c.*382C>T,uc031rud.1:c.*382C>T,uc031rue.1:c.*382C>T,uc031ruf.1:c.*382C>T,uc002xvd.4:c.*382C>T,uc002xvc.4:c.*382C>T,uc002xve.4:c.*382C>T,uc031rug.1:c.*382C>T)	ENSG00000124208(ENST00000341698:c.*382C>T),ENSG00000240849(ENST00000557021:c.*382C>T),ENSG00000244687(ENST00000420027:c.*382C>T,ENST00000371677:c.*382C>T,ENST00000415862:c.*382C>T,ENST00000340309:c.*382C>T,ENST00000371674:c.*382C>T,ENST00000371657:c.*382C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	2240;72|105	Hom;G>A	3592;1|133
N	N	-	20	48740545	48740545	G	A	snp	UTR3	*1050C>T	 	 	 	TMEM189	Tmem189	ENSG00000240849	transmembrane protein 189	chr20:48697663-48770335	Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]		 		GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM189			https://www.ncbi.nlm.nih.gov/omim/?term=610994	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM189&submit=Quick%0D%19636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM189	rs2664558	0.287939	0	0	1	0	0	UTR3	UTR3	UTR3	TMEM189(NM_001162505:c.*1050C>T,NM_199129:c.*1050C>T)	TMEM189(uc010zyp.1:c.*1050C>T,uc002xvg.2:c.*1050C>T,uc010gif.2:c.*1050C>T)	ENSG00000240849(ENST00000371650:c.*1050C>T,ENST00000371652:c.*1050C>T,ENST00000371656:c.*1050C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1645;60|76	Hom;G>A	3591;2|129
N	N	-	20	48746189	48746189	C	T	snp	synonymous SNV	G372A	P124P	hydrophobic,neutral	hydrophobic,neutral	TMEM189	Tmem189	ENSG00000240849	transmembrane protein 189	chr20:48697663-48770335	Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]		 		GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TMEM189			https://www.ncbi.nlm.nih.gov/omim/?term=610994	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM189&submit=Quick%0D%19636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM189	rs6122878	0.287141	0.2823	0.2789	1	0	0	exonic	exonic	exonic	TMEM189,TMEM189-UBE2V1	TMEM189,TMEM189-UBE2V1	ENSG00000124208,ENSG00000240849	synonymous SNV	synonymous SNV	unknown	TMEM189:NM_199129:exon4:c.G372A:p.P124P,TMEM189:NM_001162505:exon4:c.G363A:p.P121P,TMEM189-UBE2V1:NM_199203:exon4:c.G372A:p.P124P,	TMEM189:uc002xvg.2:exon4:c.G372A:p.P124P,TMEM189-UBE2V1:uc002xvf.3:exon4:c.G372A:p.P124P,TMEM189:uc010zyp.1:exon3:c.G147A:p.P49P,TMEM189:uc010gif.2:exon4:c.G363A:p.P121P,	UNKNOWN	Het;C>T	1636;82|78	Hom;C>T	4043;0|150
N	N	-	20	4880308	4880308	G	A	snp	synonymous SNV	C372T	A124A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC23A2	Slc23a2	ENSG00000089057	solute carrier family 23 member 2	chr20:4833002-4990939	The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]	Hemoglobin A, Glycosylated; bladder cancer; Adenoma|Colorectal Neoplasms; Exercise Test; Tobacco Use Disorder; lung cancer ; chronic obstructive pulmonary disease; esophageal adenocarcinoma; Stomach Neoplasms; lung cancer; smoking cessation; preterm delivery; Lymphoma, Non-Hodgkin; head and neck cancer	Mice homozygous for disruptions in this gene die within minutes of birth from respiratory distress.	Vitamin C (ascorbate) metabolism	GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0015851;nucleobase transport;TAS|GO:0015882;L-ascorbic acid transport;IDA|GO:0015993;molecular hydrogen transport;NAS|GO:0019852;L-ascorbic acid metabolic process;TAS|GO:0035461;vitamin transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070904;transepithelial L-ascorbic acid transport;IDA|GO:1905039;carboxylic acid transmembrane transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA	GO:0005215;transporter activity;IEA|GO:0008520;L-ascorbate:sodium symporter activity;IEA|GO:0008523;sodium-dependent multivitamin transmembrane transporter activity;NAS|GO:0015205;nucleobase transmembrane transporter activity;TAS|GO:0015229;L-ascorbic acid transporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0070890;sodium-dependent L-ascorbate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC23A2	https://www.uniprot.org/uniprot/Q9UGH3		https://www.ncbi.nlm.nih.gov/omim/?term=603791	http://www.informatics.jax.org/searchtool/Search.do?query=SLC23A2&submit=Quick%0D%2038ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC23A2	rs1776964	0.450479	0.4350	0.4713	1	0	0	exonic	exonic	exonic	SLC23A2	SLC23A2	ENSG00000089057	synonymous SNV	synonymous SNV	unknown	SLC23A2:NM_203327:exon6:c.C375T:p.A125A,SLC23A2:NM_005116:exon6:c.C375T:p.A125A,	SLC23A2:uc010zqr.1:exon6:c.C372T:p.A124A,SLC23A2:uc002wlg.1:exon6:c.C375T:p.A125A,SLC23A2:uc002wli.3:exon6:c.C372T:p.A124A,SLC23A2:uc002wlh.1:exon6:c.C375T:p.A125A,	UNKNOWN	Het;G>A	2059;95|103	Hom;G>A	4298;2|160
N	N	-	20	48803500	48803500	A	AC	indel	ncRNA_intronic	 	 	 	 	CEBPB-AS1																		rs11482047	0.394169	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	CEBPB-AS1	TMEM189-UBE2V1(dist=33165),CEBPB(dist=3620)	ENSG00000231742(dist=10404),ENSG00000172216(dist=3876)	Na	Na	Na	Na	Na	Na	Het;+C	97;1|5	Hom;+C	115;0|5
N	N	-	20	48892144	48892145	GT	G	indel	ncRNA_intronic	 	 	 	 	SMIM25																		rs11086306	0.452676	0	0	1	0	0	intronic	intronic	ncRNA_intronic	LINC01272	AK307192	ENSG00000224397	Na	Na	Na	Na	Na	Na	Het;-T	525;16|27	Hom;-T	467;2|21
N	N	-	20	48914922	48914922	G	C	snp	ncRNA_exonic	 	 	 	 	LINC01270																		rs6063499	0.365415	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01270	LOC284751	ENSG00000203999	Na	Na	Na	Na	Na	Na	Het;G>C	2233;79|99	Hom;G>C	4668;0|167
N	N	-	20	49181345	49181345	T	A	snp	intronic	 	 	 	 	PTPN1	Ptpn1	ENSG00000196396	protein tyrosine phosphatase, non-receptor type 1	chr20:49126891-49201299	The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	glucose tolerance; insulin; Chronic renal failure|Kidney Failure, Chronic; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2 obesity; Type 2 diabetes; ovarian cancer; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Obesity; Kidney Failure, Chronic; anthropometric parameters diabetes, type 2 insulin; diabetes, type 2; glucose tolerance; atherosclerosis; Alzheimer's disease ; glucose tolerance; insulin; body fat; atherosclerosis, diabetic; body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1; diabetes or impaired glucose tolerance; Atrophy|Helicobacter Infections|Stomach Neoplasms; insulin; body fat; metabolic syndrome; diabetes, type 2 glucose insulin obesity; Obesity, Morbid; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Noonan Syndrome|Pulmonary Valve Stenosis|Syndrome|Turner's phenotype, karyotype normal; type 1 diabetes; Lymphoma, Non-Hodgkin; Insulin Resistance|Metabolic Syndrome X; obesity; hypertension; diabetes, type 2	Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin.	Growth hormone receptor signaling	GO:0006470;protein dephosphorylation;IMP|GO:0006987;activation of signaling protein activity involved in unfolded protein response;TAS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009966;regulation of signal transduction;IMP|GO:0009968;negative regulation of signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0030100;regulation of endocytosis;IDA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0030968;endoplasmic reticulum unfolded protein response;IDA|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0033157;regulation of intracellular protein transport;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IMP|GO:0036498;IRE1-mediated unfolded protein response;IEA|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0046626;regulation of insulin receptor signaling pathway;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;NAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1902202;regulation of hepatocyte growth factor receptor signaling pathway;IMP|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903896;positive regulation of IRE1-mediated unfolded protein response;TAS|GO:1903898;negative regulation of PERK-mediated unfolded protein response;IDA|GO:1990264;peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity;ISS|GO:2000646;positive regulation of receptor catabolic process;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0097443;sorting endosome;ISS|GO:0098554;cytoplasmic side of endoplasmic reticulum membrane;IDA	GO:0003723;RNA binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0051721;protein phosphatase 2A binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPN1			https://www.ncbi.nlm.nih.gov/omim/?term=176885	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN1&submit=Quick%0D%16348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN1	rs16995294	0.511182	0	0	1	0	0	intronic	intronic	intronic	PTPN1	PTPN1	ENSG00000196396	Na	Na	Na	Na	Na	Na	Het;T>A	191;4|7	Hom;T>A	153;0|5
N	N	-	20	49191228	49191228	A	C	snp	ncRNA_exonic	 	 	 	 	AL133230.1																		rs1885177	0.511781	0.4617	0.5280	1	0	0	intronic	intronic	ncRNA_exonic	PTPN1	PTPN1	ENSG00000232043	Na	Na	Na	Na	Na	Na	Het;A>C	970;39|45	Hom;A>C	2194;0|77
N	N	-	20	49194866	49194866	A	AT	indel	intronic	 	 	 	 	PTPN1	Ptpn1	ENSG00000196396	protein tyrosine phosphatase, non-receptor type 1	chr20:49126891-49201299	The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	glucose tolerance; insulin; Chronic renal failure|Kidney Failure, Chronic; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2 obesity; Type 2 diabetes; ovarian cancer; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Obesity; Kidney Failure, Chronic; anthropometric parameters diabetes, type 2 insulin; diabetes, type 2; glucose tolerance; atherosclerosis; Alzheimer's disease ; glucose tolerance; insulin; body fat; atherosclerosis, diabetic; body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1; diabetes or impaired glucose tolerance; Atrophy|Helicobacter Infections|Stomach Neoplasms; insulin; body fat; metabolic syndrome; diabetes, type 2 glucose insulin obesity; Obesity, Morbid; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Noonan Syndrome|Pulmonary Valve Stenosis|Syndrome|Turner's phenotype, karyotype normal; type 1 diabetes; Lymphoma, Non-Hodgkin; Insulin Resistance|Metabolic Syndrome X; obesity; hypertension; diabetes, type 2	Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin.	Growth hormone receptor signaling	GO:0006470;protein dephosphorylation;IMP|GO:0006987;activation of signaling protein activity involved in unfolded protein response;TAS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009966;regulation of signal transduction;IMP|GO:0009968;negative regulation of signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0030100;regulation of endocytosis;IDA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0030968;endoplasmic reticulum unfolded protein response;IDA|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0033157;regulation of intracellular protein transport;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IMP|GO:0036498;IRE1-mediated unfolded protein response;IEA|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0046626;regulation of insulin receptor signaling pathway;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;NAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1902202;regulation of hepatocyte growth factor receptor signaling pathway;IMP|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903896;positive regulation of IRE1-mediated unfolded protein response;TAS|GO:1903898;negative regulation of PERK-mediated unfolded protein response;IDA|GO:1990264;peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity;ISS|GO:2000646;positive regulation of receptor catabolic process;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0097443;sorting endosome;ISS|GO:0098554;cytoplasmic side of endoplasmic reticulum membrane;IDA	GO:0003723;RNA binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0051721;protein phosphatase 2A binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPN1			https://www.ncbi.nlm.nih.gov/omim/?term=176885	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN1&submit=Quick%0D%16348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN1	rs3215684	0.630591	0	0	1	0	0	intronic	intronic	intronic	PTPN1	PTPN1	ENSG00000196396	Na	Na	Na	Na	Na	Na	Het;+T	101;4|4	Hom;+T	524;0|13
N	N	-	20	49195248	49195248	G	A	snp	intronic	 	 	 	 	PTPN1	Ptpn1	ENSG00000196396	protein tyrosine phosphatase, non-receptor type 1	chr20:49126891-49201299	The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	glucose tolerance; insulin; Chronic renal failure|Kidney Failure, Chronic; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2 obesity; Type 2 diabetes; ovarian cancer; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Obesity; Kidney Failure, Chronic; anthropometric parameters diabetes, type 2 insulin; diabetes, type 2; glucose tolerance; atherosclerosis; Alzheimer's disease ; glucose tolerance; insulin; body fat; atherosclerosis, diabetic; body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1; diabetes or impaired glucose tolerance; Atrophy|Helicobacter Infections|Stomach Neoplasms; insulin; body fat; metabolic syndrome; diabetes, type 2 glucose insulin obesity; Obesity, Morbid; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Noonan Syndrome|Pulmonary Valve Stenosis|Syndrome|Turner's phenotype, karyotype normal; type 1 diabetes; Lymphoma, Non-Hodgkin; Insulin Resistance|Metabolic Syndrome X; obesity; hypertension; diabetes, type 2	Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin.	Growth hormone receptor signaling	GO:0006470;protein dephosphorylation;IMP|GO:0006987;activation of signaling protein activity involved in unfolded protein response;TAS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009966;regulation of signal transduction;IMP|GO:0009968;negative regulation of signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0030100;regulation of endocytosis;IDA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0030968;endoplasmic reticulum unfolded protein response;IDA|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0033157;regulation of intracellular protein transport;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IMP|GO:0036498;IRE1-mediated unfolded protein response;IEA|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0046626;regulation of insulin receptor signaling pathway;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;NAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1902202;regulation of hepatocyte growth factor receptor signaling pathway;IMP|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903896;positive regulation of IRE1-mediated unfolded protein response;TAS|GO:1903898;negative regulation of PERK-mediated unfolded protein response;IDA|GO:1990264;peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity;ISS|GO:2000646;positive regulation of receptor catabolic process;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0097443;sorting endosome;ISS|GO:0098554;cytoplasmic side of endoplasmic reticulum membrane;IDA	GO:0003723;RNA binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0051721;protein phosphatase 2A binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPN1			https://www.ncbi.nlm.nih.gov/omim/?term=176885	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN1&submit=Quick%0D%16348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN1	rs968701	0.499002	0	0	1	0	0	intronic	intronic	intronic	PTPN1	PTPN1	ENSG00000196396	Na	Na	Na	Na	Na	Na	Het;G>A	58;3|3	Hom;G>A	120;0|5
N	N	-	20	49196167	49196167	T	C	snp	intronic	 	 	 	 	PTPN1	Ptpn1	ENSG00000196396	protein tyrosine phosphatase, non-receptor type 1	chr20:49126891-49201299	The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	glucose tolerance; insulin; Chronic renal failure|Kidney Failure, Chronic; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2 obesity; Type 2 diabetes; ovarian cancer; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Obesity; Kidney Failure, Chronic; anthropometric parameters diabetes, type 2 insulin; diabetes, type 2; glucose tolerance; atherosclerosis; Alzheimer's disease ; glucose tolerance; insulin; body fat; atherosclerosis, diabetic; body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1; diabetes or impaired glucose tolerance; Atrophy|Helicobacter Infections|Stomach Neoplasms; insulin; body fat; metabolic syndrome; diabetes, type 2 glucose insulin obesity; Obesity, Morbid; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Noonan Syndrome|Pulmonary Valve Stenosis|Syndrome|Turner's phenotype, karyotype normal; type 1 diabetes; Lymphoma, Non-Hodgkin; Insulin Resistance|Metabolic Syndrome X; obesity; hypertension; diabetes, type 2	Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin.	Growth hormone receptor signaling	GO:0006470;protein dephosphorylation;IMP|GO:0006987;activation of signaling protein activity involved in unfolded protein response;TAS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009966;regulation of signal transduction;IMP|GO:0009968;negative regulation of signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0030100;regulation of endocytosis;IDA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0030968;endoplasmic reticulum unfolded protein response;IDA|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0033157;regulation of intracellular protein transport;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IMP|GO:0036498;IRE1-mediated unfolded protein response;IEA|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0046626;regulation of insulin receptor signaling pathway;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;NAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1902202;regulation of hepatocyte growth factor receptor signaling pathway;IMP|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903896;positive regulation of IRE1-mediated unfolded protein response;TAS|GO:1903898;negative regulation of PERK-mediated unfolded protein response;IDA|GO:1990264;peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity;ISS|GO:2000646;positive regulation of receptor catabolic process;IMP	GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0097443;sorting endosome;ISS|GO:0098554;cytoplasmic side of endoplasmic reticulum membrane;IDA	GO:0003723;RNA binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0051721;protein phosphatase 2A binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPN1			https://www.ncbi.nlm.nih.gov/omim/?term=176885	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN1&submit=Quick%0D%16348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN1	rs2282147	0.625599	0	0	1	0	0	intronic	intronic	intronic	PTPN1	PTPN1	ENSG00000196396	Na	Na	Na	Na	Na	Na	Het;T>C	112;15|5	Hom;T>C	605;0|17
N	N	-	20	49261880	49261880	G	C	snp	intronic	 	 	 	 	FAM65C	Fam65c																	rs2295721	0.177516	0	0	1	0	0	intronic	intronic	intronic	FAM65C	FAM65C	ENSG00000042062	Na	Na	Na	Na	Na	Na	Het;G>C	68;5|3	Hom;G>C	176;0|5
N	N	-	20	49626971	49626971	C	T	snp	intronic	 	 	 	 	KCNG1	Kcng1	ENSG00000026559	potassium voltage-gated channel modifier subfamily G member 1	chr20:49620193-49639666	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]		 	Voltage gated Potassium channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902259;regulation of delayed rectifier potassium channel activity;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005251;delayed rectifier potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNG1	https://www.uniprot.org/uniprot/Q9UIX4		https://www.ncbi.nlm.nih.gov/omim/?term=603788	http://www.informatics.jax.org/searchtool/Search.do?query=KCNG1&submit=Quick%0D%711ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNG1	rs6122994	0.344649	0	0	1	0	0	intronic	intronic	intronic	KCNG1	KCNG1	ENSG00000026559	Na	Na	Na	Na	Na	Na	Het;C>T	88;5|4	Hom;C>T	390;0|13
N	N	-	20	50244098	50244098	T	C	snp	intronic	 	 	 	 	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs2426317	0.707867	0.7417	0.7829	1	0	0	intronic	intronic	intronic	ATP9A	ATP9A	ENSG00000054793	Na	Na	Na	Na	Na	Na	Het;T>C	271;30|16	Hom;T>C	1781;0|61
N	N	-	20	50255762	50255762	T	C	snp	intronic	 	 	 	 	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs2426333	0.822484	0	0	1	0	0	intronic	intronic	intronic	ATP9A	ATP9A	ENSG00000054793	Na	Na	Na	Na	Na	Na	Het;T>C	254;8|8	Hom;T>C	339;0|9
N	N	-	20	50256107	50256107	T	C	snp	intronic	 	 	 	 	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs2426334	0.884984	0	0	1	0	0	intronic	intronic	intronic	ATP9A	ATP9A	ENSG00000054793	Na	Na	Na	Na	Na	Na	Het;T>C	562;18|21	Hom;T>C	1076;0|34
N	N	-	20	50287736	50287736	C	T	snp	synonymous SNV	G1098A	S366S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs2255341	0.532947	0.4656	0.5286	1	0	0	exonic	exonic	exonic	ATP9A	ATP9A	ENSG00000054793	synonymous SNV	synonymous SNV	unknown	ATP9A:NM_006045:exon12:c.G1098A:p.S366S,	ATP9A:uc002xwg.1:exon12:c.G1098A:p.S366S,ATP9A:uc010gih.1:exon7:c.G690A:p.S230S,	UNKNOWN	Het;C>T	930;67|46	Hom;C>T	1922;0|69
N	N	-	20	50287790	50287790	A	G	snp	synonymous SNV	T1044C	R348R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs2255342	0.704073	0.7325	0.7666	1	0	0	exonic	exonic	exonic	ATP9A	ATP9A	ENSG00000054793	synonymous SNV	synonymous SNV	unknown	ATP9A:NM_006045:exon12:c.T1044C:p.R348R,	ATP9A:uc002xwg.1:exon12:c.T1044C:p.R348R,ATP9A:uc010gih.1:exon7:c.T636C:p.R212R,	UNKNOWN	Het;A>G	888;68|47	Hom;A>G	2115;3|81
N	N	-	20	50287925	50287925	A	G	snp	intronic	 	 	 	 	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs2255358	0.786542	0	0	1	0	0	intronic	intronic	intronic	ATP9A	ATP9A	ENSG00000054793	Na	Na	Na	Na	Na	Na	Het;A>G	272;24|13	Hom;A>G	581;1|18
N	N	-	20	50290654	50290654	T	C	snp	intronic	 	 	 	 	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs6091346	0.713458	0.7324	0.7734	1	0	0	intronic	intronic	intronic	ATP9A	ATP9A	ENSG00000054793	Na	Na	Na	Na	Na	Na	Het;T>C	640;25|30	Hom;T>C	1855;0|63
N	N	-	20	50365487	50365487	T	C	snp	intronic	 	 	 	 	ATP9A	Atp9a	ENSG00000054793	ATPase phospholipid transporting 9A (putative)	chr20:50213053-50385173		Tobacco Use Disorder	 	Ion transport by P-type ATPases	GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP9A	https://www.uniprot.org/uniprot/O75110		https://www.ncbi.nlm.nih.gov/omim/?term=609126	http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A	rs1571959	0.36242	0	0	1	0	0	intronic	intronic	intronic	ATP9A	ATP9A	ENSG00000054793	Na	Na	Na	Na	Na	Na	Het;T>C	324;16|10	Hom;T>C	368;0|14
N	N	-	20	50727509	50727509	C	T	snp	ncRNA_exonic	 	 	 	 	ERP29P1																		rs12624819	0.180312	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ZFP64	ZFP64	ENSG00000233347	Na	Na	Na	Na	Na	Na	Het;C>T	478;32|24	Hom;C>T	1038;0|38
N	N	-	20	50727547	50727547	C	G	snp	ncRNA_exonic	 	 	 	 	ERP29P1																		rs12624823	0.180312	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ZFP64	ZFP64	ENSG00000233347	Na	Na	Na	Na	Na	Na	Het;C>G	282;31|13	Hom;C>G	1084;0|38
N	N	-	20	50768672	50768673	GT	G	indel	UTR3	*13_*12delinsC	 	 	 	ZFP64	Zfp64	ENSG00000020256	ZFP64 zinc finger protein	chr20:50668202-50820847		Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP64	https://www.uniprot.org/uniprot/Q9NPA5			http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64	rs3838014	0.273363	0.3731	0.3772	1	0	0	UTR3	UTR3	UTR3	ZFP64(NM_022088:c.*13_*12delinsC,NM_018197:c.*13_*12delinsC,NM_199426:c.*13_*12delinsC)	ZFP64(uc002xwl.3:c.*13_*12delinsC,uc002xwm.3:c.*13_*12delinsC,uc002xwn.3:c.*13_*12delinsC)	ENSG00000020256(ENST00000216923:c.*13_*12delinsC,ENST00000371515:c.*13_*12delinsC,ENST00000346617:c.*13_*12delinsC)	Na	Na	Na	Na	Na	Na	Het;-T	752;33|35	Hom;-T	2187;0|80
N	N	-	20	50769183	50769183	G	A	snp	synonymous SNV	C1542T	A514A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZFP64	Zfp64	ENSG00000020256	ZFP64 zinc finger protein	chr20:50668202-50820847		Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP64	https://www.uniprot.org/uniprot/Q9NPA5			http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64	rs3746415	0.155751	0.1779	0.2186	1	0	0	exonic	exonic	exonic	ZFP64	ZFP64	ENSG00000020256	synonymous SNV	synonymous SNV	unknown	ZFP64:NM_199426:exon6:c.C1542T:p.A514A,ZFP64:NM_018197:exon6:c.C1548T:p.A516A,ZFP64:NM_022088:exon5:c.C1386T:p.A462A,	ZFP64:uc002xwm.3:exon6:c.C1542T:p.A514A,ZFP64:uc002xwn.3:exon5:c.C1386T:p.A462A,ZFP64:uc002xwl.3:exon6:c.C1548T:p.A516A,	UNKNOWN	Het;G>A	2334;138|113	Hom;G>A	6414;2|236
N	N	-	20	50769379	50769379	C	T	snp	nonsynonymous SNV	G1346A	S449N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZFP64	Zfp64	ENSG00000020256	ZFP64 zinc finger protein	chr20:50668202-50820847		Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP64	https://www.uniprot.org/uniprot/Q9NPA5			http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64	rs3746414	0.169329	0.1951	0.2181	0.15	2	13	exonic	exonic	exonic	ZFP64	ZFP64	ENSG00000020256	nonsynonymous SNV	nonsynonymous SNV	unknown	ZFP64:NM_199426:exon6:c.G1346A:p.S449N,ZFP64:NM_018197:exon6:c.G1352A:p.S451N,ZFP64:NM_022088:exon5:c.G1190A:p.S397N,	ZFP64:uc002xwm.3:exon6:c.G1346A:p.S449N,ZFP64:uc002xwn.3:exon5:c.G1190A:p.S397N,ZFP64:uc002xwl.3:exon6:c.G1352A:p.S451N,	UNKNOWN	Het;C>T	2174;91|97	Hom;C>T	4937;0|174
N	N	-	20	50769549	50769549	A	G	snp	synonymous SNV	T1176C	H392H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZFP64	Zfp64	ENSG00000020256	ZFP64 zinc finger protein	chr20:50668202-50820847		Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP64	https://www.uniprot.org/uniprot/Q9NPA5			http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64	rs3746413	0.167732	0.1942	0.2169	1	0	0	exonic	exonic	exonic	ZFP64	ZFP64	ENSG00000020256	synonymous SNV	synonymous SNV	unknown	ZFP64:NM_199426:exon6:c.T1176C:p.H392H,ZFP64:NM_018197:exon6:c.T1182C:p.H394H,ZFP64:NM_022088:exon5:c.T1020C:p.H340H,	ZFP64:uc002xwm.3:exon6:c.T1176C:p.H392H,ZFP64:uc002xwn.3:exon5:c.T1020C:p.H340H,ZFP64:uc002xwl.3:exon6:c.T1182C:p.H394H,	UNKNOWN	Het;A>G	1640;98|78	Hom;A>G	3879;0|140
N	N	-	20	50776522	50776522	A	C	snp	intronic	 	 	 	 	ZFP64	Zfp64	ENSG00000020256	ZFP64 zinc finger protein	chr20:50668202-50820847		Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP64	https://www.uniprot.org/uniprot/Q9NPA5			http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64	rs6021761	0.419129	0	0	1	0	0	intronic	intronic	intronic	ZFP64	ZFP64	ENSG00000020256	Na	Na	Na	Na	Na	Na	Het;A>C	67;5|3	Hom;A>C	208;0|6
N	N	-	20	51264981	51264987	TTGTGTG	T	indel	ncRNA_exonic	 	 	 	 	LINC01524																		rs11469270	0	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01524	TRNA_Pseudo(dist=46566),TSHZ2(dist=323959)	ENSG00000234948	Na	Na	Na	Na	Na	Na	Het;-TGTGTG	1346;51|46	Hom;-TGTGTG	5348;0|131
N	N	-	20	53259964	53259964	G	C	snp	intronic	 	 	 	 	DOK5	Dok5	ENSG00000101134	docking protein 5	chr20:53092136-53267710	The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Amygdala; Creatinine; Cholesterol, HDL; Blood Pressure Determination; Albuminuria; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Macular Degeneration; Waist-Hip Ratio; obesity|Type 2 diabetes	 	RET signaling	GO:0000165;MAPK cascade;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;TAS|GO:0051386;regulation of neurotrophin TRK receptor signaling pathway;IMP	GO:0005829;cytosol;TAS	GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005158;insulin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOK5	https://www.uniprot.org/uniprot/Q9P104		https://www.ncbi.nlm.nih.gov/omim/?term=608334	http://www.informatics.jax.org/searchtool/Search.do?query=DOK5&submit=Quick%0D%2656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK5	rs6064099	0.378195	0.3601	0.3093	1	0	0	intronic	intronic	intronic	DOK5	DOK5	ENSG00000101134	Na	Na	Na	Na	Na	Na	Het;G>C	1246;52|59	Hom;G>C	2901;0|104
N	N	-	20	53467118	53467119	AT	A	indel	intergenic	 	 	 	 	DOK5	Dok5	ENSG00000101134	docking protein 5	chr20:53092136-53267710	The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Amygdala; Creatinine; Cholesterol, HDL; Blood Pressure Determination; Albuminuria; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Macular Degeneration; Waist-Hip Ratio; obesity|Type 2 diabetes	 	RET signaling	GO:0000165;MAPK cascade;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;TAS|GO:0051386;regulation of neurotrophin TRK receptor signaling pathway;IMP	GO:0005829;cytosol;TAS	GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005158;insulin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOK5	https://www.uniprot.org/uniprot/Q9P104		https://www.ncbi.nlm.nih.gov/omim/?term=608334	http://www.informatics.jax.org/searchtool/Search.do?query=DOK5&submit=Quick%0D%2656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK5	rs5842035	0.48143	0	0	1	0	0	intergenic	intergenic	intergenic	DOK5(dist=199408),LINC01441(dist=569755)	DOK5(dist=199408),U4atac(dist=9108)	ENSG00000101134(dist=199408),ENSG00000252089(dist=9108)	Na	Na	Na	Na	Na	Na	Het;-T	191;8|11	Hom;-T	476;0|20
N	N	-	20	53965364	53965364	A	C	snp	intergenic	 	 	 	 	RPL12P4																		rs11696476	0.369209	0	0	1	0	0	intergenic	intergenic	intergenic	DOK5(dist=697654),LINC01441(dist=71510)	U4atac(dist=489013),CBLN4(dist=607049)	ENSG00000185834(dist=273679),ENSG00000224008(dist=71510)	Na	Na	Na	Na	Na	Na	Het;A>C	886;27|41	Hom;A>C	1696;1|62
N	N	-	20	54143328	54143328	T	C	snp	intergenic	 	 	 	 	LINC01440																		rs2749797	0.233427	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01441(dist=99593),CBLN4(dist=429085)	U4atac(dist=666977),CBLN4(dist=429085)	ENSG00000235166(dist=58576),ENSG00000054803(dist=429168)	Na	Na	Na	Na	Na	Na	Het;T>C	254;4|8	Hom;T>C	588;0|18
N	N	-	20	55152586	55152586	C	CTTATT	indel	upstream	 	 	 	 	LINC01716																		rs11472977	0.631989	0	0	1	0	0	intergenic	intergenic	upstream	FAM209B(dist=41012),TFAP2C(dist=51772)	FAM209B(dist=41012),TFAP2C(dist=51772)	ENSG00000225657	Na	Na	Na	Na	Na	Na	Het;+TTATT	1407;61|35	Hom;+TTATT	3209;1|71
N	N	-	20	55154354	55154354	G	A	snp	ncRNA_intronic	 	 	 	 	LINC01716																		rs6024965	0.680511	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FAM209B(dist=42780),TFAP2C(dist=50004)	FAM209B(dist=42780),TFAP2C(dist=50004)	ENSG00000225657	Na	Na	Na	Na	Na	Na	Het;G>A	70;7|5	Hom;G>A	136;0|6
N	N	-	20	55155151	55155151	G	A	snp	ncRNA_intronic	 	 	 	 	LINC01716																		rs1570531	0.609824	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FAM209B(dist=43577),TFAP2C(dist=49207)	FAM209B(dist=43577),TFAP2C(dist=49207)	ENSG00000225657	Na	Na	Na	Na	Na	Na	Het;G>A	127;9|7	Hom;G>A	242;0|9
N	N	-	20	55155404	55155404	G	A	snp	ncRNA_intronic	 	 	 	 	LINC01716																		rs1570530	0.625399	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FAM209B(dist=43830),TFAP2C(dist=48954)	FAM209B(dist=43830),TFAP2C(dist=48954)	ENSG00000225657	Na	Na	Na	Na	Na	Na	Het;G>A	937;45|44	Hom;G>A	2249;0|86
N	N	-	20	55789914	55789914	G	A	snp	ncRNA_exonic	 	 	 	 	BMP7-AS1																		rs3764677	0.578674	0	0	1	0	0	ncRNA_exonic	intronic	intronic	BMP7-AS1	BMP7	ENSG00000101144	Na	Na	Na	Na	Na	Na	Het;G>A	888;78|50	Hom;G>A	2980;0|113
N	N	-	20	56089869	56089870	GT	G	indel	UTR3	*800_*799delinsC	 	 	 	CTCFL	Ctcfl	ENSG00000124092	CCCTC-binding factor like	chr20:56071035-56100708	CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Silver-Russell Syndrome; breast cancer	Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility.		GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTCFL	https://www.uniprot.org/uniprot/Q8NI51		https://www.ncbi.nlm.nih.gov/omim/?term=607022	http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL	rs11086612	0.629792	0	0	1	0	0	intronic	UTR3	intronic	CTCFL	CTCFL(uc021wfe.1:c.*800_*799delinsC,uc021wfg.1:c.*800_*799delinsC)	ENSG00000124092	Na	Na	Na	Na	Na	Na	Het;-T	130;10|10	Hom;-T	407;2|22
N	N	-	20	56098070	56098071	GA	G	indel	intronic	 	 	 	 	CTCFL	Ctcfl	ENSG00000124092	CCCTC-binding factor like	chr20:56071035-56100708	CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Silver-Russell Syndrome; breast cancer	Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility.		GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTCFL	https://www.uniprot.org/uniprot/Q8NI51		https://www.ncbi.nlm.nih.gov/omim/?term=607022	http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL	rs11477755	0.274361	0	0	1	0	0	intronic	intronic	intronic	CTCFL	CTCFL	ENSG00000124092	Na	Na	Na	Na	Na	Na	Het;-A	173;7|9	Hom;-A	199;0|8
N	N	-	20	56098733	56098733	T	C	snp	nonsynonymous SNV	A529G	T177A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	CTCFL	Ctcfl	ENSG00000124092	CCCTC-binding factor like	chr20:56071035-56100708	CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Silver-Russell Syndrome; breast cancer	Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility.		GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTCFL	https://www.uniprot.org/uniprot/Q8NI51		https://www.ncbi.nlm.nih.gov/omim/?term=607022	http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL	rs6025606	0.749002	0.7148	0.6630	0.08	1	13	exonic	exonic	exonic	CTCFL	CTCFL	ENSG00000124092	nonsynonymous SNV	nonsynonymous SNV	unknown	CTCFL:NM_001269051:exon2:c.A529G:p.T177A,CTCFL:NM_001269045:exon2:c.A529G:p.T177A,CTCFL:NM_001269046:exon2:c.A529G:p.T177A,CTCFL:NM_001269042:exon2:c.A529G:p.T177A,CTCFL:NM_001269048:exon1:c.A529G:p.T177A,CTCFL:NM_001269047:exon2:c.A529G:p.T177A,CTCFL:NM_001269041:exon1:c.A529G:p.T177A,CTCFL:NM_001269040:exon2:c.A529G:p.T177A,CTCFL:NM_080618:exon3:c.A529G:p.T177A,CTCFL:NM_001269044:exon1:c.A529G:p.T177A,CTCFL:NM_001269052:exon1:c.A529G:p.T177A,CTCFL:NM_001269043:exon2:c.A529G:p.T177A,	CTCFL:uc031ruh.1:exon2:c.A529G:p.T177A,CTCFL:uc010gjl.2:exon2:c.A529G:p.T177A,CTCFL:uc010gjj.2:exon2:c.A529G:p.T177A,CTCFL:uc021wfe.1:exon1:c.A529G:p.T177A,CTCFL:uc010gje.3:exon1:c.A529G:p.T177A,CTCFL:uc010gjk.2:exon1:c.A529G:p.T177A,CTCFL:uc010gix.1:exon1:c.A529G:p.T177A,CTCFL:uc010gjd.1:exon3:c.A529G:p.T177A,CTCFL:uc010giw.1:exon2:c.A529G:p.T177A,CTCFL:uc010gjb.2:exon2:c.A529G:p.T177A,CTCFL:uc010gja.2:exon2:c.A529G:p.T177A,CTCFL:uc010gjc.1:exon2:c.A529G:p.T177A,CTCFL:uc031ruj.1:exon2:c.A529G:p.T177A,CTCFL:uc010gjh.2:exon1:c.A529G:p.T177A,	UNKNOWN	Het;T>C	1301;29|49	Hom;T>C	2222;1|77
N	N	-	20	56099114	56099114	C	G	snp	nonsynonymous SNV	G148C	E50Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	CTCFL	Ctcfl	ENSG00000124092	CCCTC-binding factor like	chr20:56071035-56100708	CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Silver-Russell Syndrome; breast cancer	Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility.		GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTCFL	https://www.uniprot.org/uniprot/Q8NI51		https://www.ncbi.nlm.nih.gov/omim/?term=607022	http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL	rs6070128	0.285144	0.3135	0.3644	0.08	1	13	exonic	exonic	exonic	CTCFL	CTCFL	ENSG00000124092	nonsynonymous SNV	nonsynonymous SNV	unknown	CTCFL:NM_001269051:exon2:c.G148C:p.E50Q,CTCFL:NM_001269045:exon2:c.G148C:p.E50Q,CTCFL:NM_001269046:exon2:c.G148C:p.E50Q,CTCFL:NM_001269042:exon2:c.G148C:p.E50Q,CTCFL:NM_001269048:exon1:c.G148C:p.E50Q,CTCFL:NM_001269047:exon2:c.G148C:p.E50Q,CTCFL:NM_001269041:exon1:c.G148C:p.E50Q,CTCFL:NM_001269040:exon2:c.G148C:p.E50Q,CTCFL:NM_080618:exon3:c.G148C:p.E50Q,CTCFL:NM_001269044:exon1:c.G148C:p.E50Q,CTCFL:NM_001269052:exon1:c.G148C:p.E50Q,CTCFL:NM_001269043:exon2:c.G148C:p.E50Q,	CTCFL:uc031ruh.1:exon2:c.G148C:p.E50Q,CTCFL:uc010gjl.2:exon2:c.G148C:p.E50Q,CTCFL:uc010gjj.2:exon2:c.G148C:p.E50Q,CTCFL:uc021wfe.1:exon1:c.G148C:p.E50Q,CTCFL:uc010gje.3:exon1:c.G148C:p.E50Q,CTCFL:uc010gjk.2:exon1:c.G148C:p.E50Q,CTCFL:uc010gix.1:exon1:c.G148C:p.E50Q,CTCFL:uc010gjd.1:exon3:c.G148C:p.E50Q,CTCFL:uc010giw.1:exon2:c.G148C:p.E50Q,CTCFL:uc010gjb.2:exon2:c.G148C:p.E50Q,CTCFL:uc010gja.2:exon2:c.G148C:p.E50Q,CTCFL:uc010gjc.1:exon2:c.G148C:p.E50Q,CTCFL:uc031ruj.1:exon2:c.G148C:p.E50Q,CTCFL:uc010gjh.2:exon1:c.G148C:p.E50Q,	UNKNOWN	Het;C>G	1347;94|64	Hom;C>G	4022;0|143
N	N	-	20	56099741	56099741	G	T	snp	UTR5	-480C>A	 	 	 	CTCFL	Ctcfl	ENSG00000124092	CCCTC-binding factor like	chr20:56071035-56100708	CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Silver-Russell Syndrome; breast cancer	Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility.		GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTCFL	https://www.uniprot.org/uniprot/Q8NI51		https://www.ncbi.nlm.nih.gov/omim/?term=607022	http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL	rs2865388	0.832468	0	0	1	0	0	UTR5	UTR5	UTR5	CTCFL(NM_001269041:c.-480C>A,NM_001269044:c.-480C>A,NM_001269048:c.-480C>A,NM_001269052:c.-480C>A)	CTCFL(uc010gix.1:c.-480C>A,uc010gje.3:c.-480C>A,uc010gjh.2:c.-480C>A,uc021wfe.1:c.-480C>A,uc010gjk.2:c.-480C>A)	ENSG00000124092(ENST00000608263:c.-480C>A,ENST00000422109:c.-480C>A,ENST00000426658:c.-480C>A,ENST00000432255:c.-480C>A,ENST00000608720:c.-480C>A,ENST00000608158:c.-480C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1677;75|76	Hom;G>T	3330;0|123
N	N	-	20	56136536	56136536	A	G	snp	synonymous SNV	A69G	L23L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PCK1	Pck1	ENSG00000124253	phosphoenolpyruvate carboxykinase 1	chr20:56136136-56141513	This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; metabolic syndrome; longevity; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease; Alzheimer's disease ; atherosclerosis; triglycerides; diabetes, type 2; lipoprotein; schizophrenia; diabetes, type 2; BMI- Edema rosiglitazone or pioglitazone; obesity; Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels	Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry.	Gluconeogenesis	GO:0006006;glucose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006107;oxaloacetate metabolic process;IEA|GO:0006475;internal protein amino acid acetylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0007568;aging;IEA|GO:0014823;response to activity;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033993;response to lipid;IEA|GO:0042593;glucose homeostasis;IEA|GO:0046327;glycerol biosynthetic process from pyruvate;IEA|GO:0051365;cellular response to potassium ion starvation;IEA|GO:0061402;positive regulation of transcription from RNA polymerase II promoter in response to acidic pH;IEA|GO:0070741;response to interleukin-6;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071332;cellular response to fructose stimulus;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:1904640;response to methionine;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004611;phosphoenolpyruvate carboxykinase activity;IEA|GO:0004613;phosphoenolpyruvate carboxykinase (GTP) activity;TAS|GO:0005525;GTP binding;IDA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0017076;purine nucleotide binding;IEA|GO:0019003;GDP binding;IEA|GO:0030145;manganese ion binding;IDA|GO:0031406;carboxylic acid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCK1	https://www.uniprot.org/uniprot/P35558	https://hpo.jax.org/app/browse/search?q=PCK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614168	http://www.informatics.jax.org/searchtool/Search.do?query=PCK1&submit=Quick%0D%5635ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCK1	rs1042521	0.396965	0.4479	0.4539	1	0	0	exonic	exonic	exonic	PCK1	PCK1	ENSG00000124253	synonymous SNV	synonymous SNV	unknown	PCK1:NM_002591:exon2:c.A69G:p.L23L,	PCK1:uc002xyn.4:exon2:c.A69G:p.L23L,	UNKNOWN	Het;A>G	645;16|28	Hom;A>G	1257;0|43
N	N	-	20	56137061	56137061	C	T	snp	intronic	 	 	 	 	PCK1	Pck1	ENSG00000124253	phosphoenolpyruvate carboxykinase 1	chr20:56136136-56141513	This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; metabolic syndrome; longevity; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease; Alzheimer's disease ; atherosclerosis; triglycerides; diabetes, type 2; lipoprotein; schizophrenia; diabetes, type 2; BMI- Edema rosiglitazone or pioglitazone; obesity; Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels	Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry.	Gluconeogenesis	GO:0006006;glucose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006107;oxaloacetate metabolic process;IEA|GO:0006475;internal protein amino acid acetylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0007568;aging;IEA|GO:0014823;response to activity;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033993;response to lipid;IEA|GO:0042593;glucose homeostasis;IEA|GO:0046327;glycerol biosynthetic process from pyruvate;IEA|GO:0051365;cellular response to potassium ion starvation;IEA|GO:0061402;positive regulation of transcription from RNA polymerase II promoter in response to acidic pH;IEA|GO:0070741;response to interleukin-6;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071332;cellular response to fructose stimulus;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:1904640;response to methionine;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004611;phosphoenolpyruvate carboxykinase activity;IEA|GO:0004613;phosphoenolpyruvate carboxykinase (GTP) activity;TAS|GO:0005525;GTP binding;IDA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0017076;purine nucleotide binding;IEA|GO:0019003;GDP binding;IEA|GO:0030145;manganese ion binding;IDA|GO:0031406;carboxylic acid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCK1	https://www.uniprot.org/uniprot/P35558	https://hpo.jax.org/app/browse/search?q=PCK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614168	http://www.informatics.jax.org/searchtool/Search.do?query=PCK1&submit=Quick%0D%5635ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCK1	rs8123020	0.058107	0	0	1	0	0	intronic	intronic	intronic	PCK1	PCK1	ENSG00000124253	Na	Na	Na	Na	Na	Na	Het;C>T	374;7|15	Hom;C>T	77;0|3
N	N	-	20	56137807	56137807	A	G	snp	synonymous SNV	A462G	S154S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PCK1	Pck1	ENSG00000124253	phosphoenolpyruvate carboxykinase 1	chr20:56136136-56141513	This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; metabolic syndrome; longevity; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease; Alzheimer's disease ; atherosclerosis; triglycerides; diabetes, type 2; lipoprotein; schizophrenia; diabetes, type 2; BMI- Edema rosiglitazone or pioglitazone; obesity; Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels	Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry.	Gluconeogenesis	GO:0006006;glucose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006107;oxaloacetate metabolic process;IEA|GO:0006475;internal protein amino acid acetylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0007568;aging;IEA|GO:0014823;response to activity;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033993;response to lipid;IEA|GO:0042593;glucose homeostasis;IEA|GO:0046327;glycerol biosynthetic process from pyruvate;IEA|GO:0051365;cellular response to potassium ion starvation;IEA|GO:0061402;positive regulation of transcription from RNA polymerase II promoter in response to acidic pH;IEA|GO:0070741;response to interleukin-6;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071332;cellular response to fructose stimulus;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:1904640;response to methionine;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004611;phosphoenolpyruvate carboxykinase activity;IEA|GO:0004613;phosphoenolpyruvate carboxykinase (GTP) activity;TAS|GO:0005525;GTP binding;IDA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0017076;purine nucleotide binding;IEA|GO:0019003;GDP binding;IEA|GO:0030145;manganese ion binding;IDA|GO:0031406;carboxylic acid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCK1	https://www.uniprot.org/uniprot/P35558	https://hpo.jax.org/app/browse/search?q=PCK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614168	http://www.informatics.jax.org/searchtool/Search.do?query=PCK1&submit=Quick%0D%5635ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCK1	rs1042523	0.313299	0.4496	0.4111	1	0	0	exonic	exonic	exonic	PCK1	PCK1	ENSG00000124253	synonymous SNV	synonymous SNV	unknown	PCK1:NM_002591:exon4:c.A462G:p.S154S,	PCK1:uc002xyn.4:exon4:c.A462G:p.S154S,	UNKNOWN	Het;A>G	2019;66|56	Hom;A>G	3078;0|87
N	N	-	20	56137834	56137834	A	G	snp	synonymous SNV	A489G	S163S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PCK1	Pck1	ENSG00000124253	phosphoenolpyruvate carboxykinase 1	chr20:56136136-56141513	This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; metabolic syndrome; longevity; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease; Alzheimer's disease ; atherosclerosis; triglycerides; diabetes, type 2; lipoprotein; schizophrenia; diabetes, type 2; BMI- Edema rosiglitazone or pioglitazone; obesity; Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels	Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry.	Gluconeogenesis	GO:0006006;glucose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006107;oxaloacetate metabolic process;IEA|GO:0006475;internal protein amino acid acetylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0007568;aging;IEA|GO:0014823;response to activity;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033993;response to lipid;IEA|GO:0042593;glucose homeostasis;IEA|GO:0046327;glycerol biosynthetic process from pyruvate;IEA|GO:0051365;cellular response to potassium ion starvation;IEA|GO:0061402;positive regulation of transcription from RNA polymerase II promoter in response to acidic pH;IEA|GO:0070741;response to interleukin-6;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071332;cellular response to fructose stimulus;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:1904640;response to methionine;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004611;phosphoenolpyruvate carboxykinase activity;IEA|GO:0004613;phosphoenolpyruvate carboxykinase (GTP) activity;TAS|GO:0005525;GTP binding;IDA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0017076;purine nucleotide binding;IEA|GO:0019003;GDP binding;IEA|GO:0030145;manganese ion binding;IDA|GO:0031406;carboxylic acid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCK1	https://www.uniprot.org/uniprot/P35558	https://hpo.jax.org/app/browse/search?q=PCK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614168	http://www.informatics.jax.org/searchtool/Search.do?query=PCK1&submit=Quick%0D%5635ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCK1	rs1062601	0.314097	0.4496	0.4145	1	0	0	exonic	exonic	exonic	PCK1	PCK1	ENSG00000124253	synonymous SNV	synonymous SNV	unknown	PCK1:NM_002591:exon4:c.A489G:p.S163S,	PCK1:uc002xyn.4:exon4:c.A489G:p.S163S,	UNKNOWN	Het;A>G	1273;68|63	Hom;A>G	2560;0|95
N	N	-	20	56190634	56190634	C	T	snp	nonsynonymous SNV	G262A	E88K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ZBP1	Zbp1	ENSG00000124256	Z-DNA binding protein 1	chr20:56178902-56195632	This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	hippocampal atrophy; Body Fat Distribution; Hippocampus; Coronary Disease	Mice homozygous for a knock-out allele display normal innate immune activation by double-stranded B-form DNA (B-DNA) as well as normal adaptive immune responses to DNA vaccination.	Regulation of innate immune responses to cytosolic DNA	GO:0002376;immune system process;IEA|GO:0008150;biological_process;ND|GO:0032479;regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045087;innate immune response;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0003677;DNA binding;IDA|GO:0003692;left-handed Z-DNA binding;NAS|GO:0003723;RNA binding;IEA|GO:0003726;double-stranded RNA adenosine deaminase activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZBP1	https://www.uniprot.org/uniprot/Q9H171		https://www.ncbi.nlm.nih.gov/omim/?term=606750	http://www.informatics.jax.org/searchtool/Search.do?query=ZBP1&submit=Quick%0D%5636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBP1	rs2073145	0.604633	0.5581	0.6861	0.08	1	13	exonic	exonic	exonic	ZBP1	ZBP1	ENSG00000124256	nonsynonymous SNV	nonsynonymous SNV	unknown	ZBP1:NM_001160419:exon3:c.G262A:p.E88K,ZBP1:NM_001160418:exon2:c.G37A:p.E13K,ZBP1:NM_030776:exon3:c.G262A:p.E88K,ZBP1:NM_001160417:exon3:c.G262A:p.E88K,	ZBP1:uc002xyp.3:exon2:c.G37A:p.E13K,ZBP1:uc010zzn.2:exon3:c.G262A:p.E88K,ZBP1:uc010gjm.3:exon3:c.G262A:p.E88K,ZBP1:uc002xyo.3:exon3:c.G262A:p.E88K,	UNKNOWN	Het;C>T	584;32|31	Hom;C>T	1260;0|50
N	N	-	20	56807969	56807969	A	G	snp	unknown	 	 	 	 	PPP4R1L	 																	rs3818744	0.416733	0	0.4803	1	0	0	ncRNA_exonic	intergenic	exonic	PPP4R1L	C20orf85(dist=71786),PPP4R1L(dist=12870)	ENSG00000124224	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	1040;52|49	Hom;A>G	2075;8|86
N	N	-	20	56811400	56811400	C	A	snp	ncRNA_intronic	 	 	 	 	PPP4R1L	 																	rs474212	0.997404	0	0	1	0	0	ncRNA_intronic	intergenic	intronic	PPP4R1L	NONE(dist=NONE),PPP4R1L(dist=9439)	ENSG00000124224	Na	Na	Na	Na	Na	Na	Het;C>A	221;3|11	Hom;C>A	525;0|18
N	N	-	20	56820880	56820880	C	T	snp	ncRNA_exonic	 	 	 	 	PPP4R1L	 																	rs3746406	0.422724	0	0.4123	1	0	0	ncRNA_exonic	UTR3	UTR5;UTR3	PPP4R1L	PPP4R1L(uc002xyy.1:c.*134G>A)	ENSG00000124224(ENST00000497138:c.-20G>A);ENSG00000124224(ENST00000334187:c.*134G>A,ENST00000493688:c.*134G>A,ENST00000244070:c.*134G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1181;97|62	Hom;C>T	3932;0|146
N	N	-	20	56821127	56821127	A	G	snp	nonsynonymous SNV	T1135C	C379R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	PPP4R1L	 																	rs3746405	0.421526	0	0.3951	1	0	0	ncRNA_exonic	exonic	exonic	PPP4R1L	PPP4R1L	ENSG00000124224	Na	nonsynonymous SNV	unknown	Na	PPP4R1L:uc002xyy.1:exon10:c.T1135C:p.C379R,	UNKNOWN	Het;A>G	1226;71|58	Hom;A>G	4165;2|152
N	N	-	20	56822536	56822536	G	A	snp	synonymous SNV	C795T	L265L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PPP4R1L	 																	rs4811972	0.400359	0	0.3887	1	0	0	ncRNA_exonic	exonic	exonic	PPP4R1L	PPP4R1L	ENSG00000124224	Na	synonymous SNV	unknown	Na	PPP4R1L:uc002xyy.1:exon9:c.C795T:p.L265L,	UNKNOWN	Het;G>A	791;16|38	Hom;G>A	1115;0|43
N	N	-	20	56825826	56825826	A	C	snp	ncRNA_intronic	 	 	 	 	PPP4R1L	 																	rs2282205	0.397364	0	0	1	0	0	ncRNA_intronic	intronic	intronic	PPP4R1L	PPP4R1L	ENSG00000124224	Na	Na	Na	Na	Na	Na	Het;A>C	135;7|5	Hom;A>C	447;0|12
N	N	-	20	56826668	56826668	C	T	snp	ncRNA_intronic	 	 	 	 	PPP4R1L	 																	rs1537479	0.392971	0	0	1	0	0	ncRNA_intronic	intronic	intronic	PPP4R1L	PPP4R1L	ENSG00000124224	Na	Na	Na	Na	Na	Na	Het;C>T	130;2|5	Hom;C>T	113;0|4
N	N	-	20	56826934	56826934	T	A	snp	ncRNA_intronic	 	 	 	 	PPP4R1L	 																	rs6064631	0.393171	0	0.3880	1	0	0	ncRNA_intronic	intronic	intronic	PPP4R1L	PPP4R1L	ENSG00000124224	Na	Na	Na	Na	Na	Na	Het;T>A	422;41|25	Hom;T>A	2212;2|90
N	N	-	20	56847696	56847696	C	G	snp	ncRNA_intronic	 	 	 	 	PPP4R1L	 																	rs6064635	0.395767	0	0	1	0	0	ncRNA_intronic	intronic	intronic	PPP4R1L	PPP4R1L	ENSG00000124224	Na	Na	Na	Na	Na	Na	Het;C>G	209;9|7	Hom;C>G	137;0|4
N	N	-	20	56861637	56861637	A	G	snp	ncRNA_intronic	 	 	 	 	PPP4R1L	 																	rs6026181	0.688099	0	0	1	0	0	ncRNA_intronic	intronic	intronic	PPP4R1L	PPP4R1L	ENSG00000124224	Na	Na	Na	Na	Na	Na	Het;A>G	65;4|3	Hom;A>G	212;0|6
N	N	-	20	57274151	57274151	G	C	snp	ncRNA_intronic	 	 	 	 	STX16-NPEPL1	 	ENSG00000254995	STX16-NPEPL1 readthrough (NMD candidate)	chr20:57226490-57290466	This locus represents naturally occurring read-through transcription between the neighboring syntaxin 16 (STX16) and aminopeptidase-like 1 (NPEPL1) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011]		 		GO:0006886;intracellular protein transport;IBA|GO:0006906;vesicle fusion;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0048278;vesicle docking;IBA	GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0031201;SNARE complex;IBA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/STX16-NPEPL1				http://www.informatics.jax.org/searchtool/Search.do?query=STX16-NPEPL1&submit=Quick%0D%20098ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX16-NPEPL1	rs2296528	0.616214	0	0	1	0	0	ncRNA_intronic	intronic	intronic	STX16-NPEPL1	NPEPL1	ENSG00000215440,ENSG00000254995	Na	Na	Na	Na	Na	Na	Het;G>C	198;5|9	Hom;G>C	127;0|4
N	N	-	20	57594684	57594684	C	T	snp	intronic	 	 	 	 	TUBB1	Tubb1	ENSG00000101162	tubulin beta 1 class VI	chr20:57594309-57601709	This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]	Acute Coronary Syndrome|Myocardial Infarction; Hemorrhagic Disorders; cardiovascular disease	Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets.  The platelets that are produced have structural and functional defects.	Kinesins	GO:0007017;microtubule-based process;IEA|GO:0051225;spindle assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBB1	https://www.uniprot.org/uniprot/Q9H4B7	https://hpo.jax.org/app/browse/search?q=TUBB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612901	http://www.informatics.jax.org/searchtool/Search.do?query=TUBB1&submit=Quick%0D%2665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB1	rs34524896	0.0760783	0.0428	0.0740	1	0	0	intronic	intronic	intronic	TUBB1	TUBB1	ENSG00000101162	Na	Na	Na	Na	Na	Na	Het;C>T	143;12|9	Hom;C>T	1006;0|40
N	N	-	20	57597970	57597970	A	C	snp	nonsynonymous SNV	A128C	Q43P	polar,hydrophilic,neutral	hydrophobic,neutral	TUBB1	Tubb1	ENSG00000101162	tubulin beta 1 class VI	chr20:57594309-57601709	This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]	Acute Coronary Syndrome|Myocardial Infarction; Hemorrhagic Disorders; cardiovascular disease	Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets.  The platelets that are produced have structural and functional defects.	Kinesins	GO:0007017;microtubule-based process;IEA|GO:0051225;spindle assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBB1	https://www.uniprot.org/uniprot/Q9H4B7	https://hpo.jax.org/app/browse/search?q=TUBB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612901	http://www.informatics.jax.org/searchtool/Search.do?query=TUBB1&submit=Quick%0D%2665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB1	rs463312	0.0842652	0.0398	0.0771	0.77	10	13	exonic	exonic	exonic	TUBB1	TUBB1	ENSG00000101162	nonsynonymous SNV	nonsynonymous SNV	unknown	TUBB1:NM_030773:exon2:c.A128C:p.Q43P,	TUBB1:uc002yak.3:exon2:c.A128C:p.Q43P,	UNKNOWN	Het;A>C	2091;105|58	Hom;A>C	5369;5|126
N	N	-	20	57597971	57597971	G	C	snp	nonsynonymous SNV	G129C	Q43H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	TUBB1	Tubb1	ENSG00000101162	tubulin beta 1 class VI	chr20:57594309-57601709	This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]	Acute Coronary Syndrome|Myocardial Infarction; Hemorrhagic Disorders; cardiovascular disease	Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets.  The platelets that are produced have structural and functional defects.	Kinesins	GO:0007017;microtubule-based process;IEA|GO:0051225;spindle assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBB1	https://www.uniprot.org/uniprot/Q9H4B7	https://hpo.jax.org/app/browse/search?q=TUBB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612901	http://www.informatics.jax.org/searchtool/Search.do?query=TUBB1&submit=Quick%0D%2665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB1	rs415064	0.0842652	0.0400	0.0770	0.69	9	13	exonic	exonic	exonic	TUBB1	TUBB1	ENSG00000101162	nonsynonymous SNV	nonsynonymous SNV	unknown	TUBB1:NM_030773:exon2:c.G129C:p.Q43H,	TUBB1:uc002yak.3:exon2:c.G129C:p.Q43H,	UNKNOWN	Het;G>C	2042;103|58	Hom;G>C	5369;5|125
N	N	-	20	57767043	57767043	G	C	snp	synonymous SNV	G969C	A323A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF831	Zfp831	ENSG00000124203	zinc finger protein 831	chr20:57766075-57834168		Waist-Hip Ratio; Stroke; HIV Infections|[X]Human immunodeficiency virus disease; Intercellular Adhesion Molecule-1; Myopia; Pancreatic Neoplasms	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;IBA	GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF831	https://www.uniprot.org/uniprot/Q5JPB2			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF831&submit=Quick%0D%5614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF831	rs259984	0.360024	0.2266	0.2786	1	0	0	exonic	exonic	exonic	ZNF831	ZNF831	ENSG00000124203	synonymous SNV	synonymous SNV	unknown	ZNF831:NM_178457:exon1:c.G969C:p.A323A,	ZNF831:uc002yan.3:exon1:c.G969C:p.A323A,	UNKNOWN	Het;G>C	818;59|41	Hom;G>C	1946;2|72
N	N	-	20	57768399	57768399	T	C	snp	synonymous SNV	T2325C	A775A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF831	Zfp831	ENSG00000124203	zinc finger protein 831	chr20:57766075-57834168		Waist-Hip Ratio; Stroke; HIV Infections|[X]Human immunodeficiency virus disease; Intercellular Adhesion Molecule-1; Myopia; Pancreatic Neoplasms	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;IBA	GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF831	https://www.uniprot.org/uniprot/Q5JPB2			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF831&submit=Quick%0D%5614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF831	rs442091	0.361022	0.3084	0.2956	1	0	0	exonic	exonic	exonic	ZNF831	ZNF831	ENSG00000124203	synonymous SNV	synonymous SNV	unknown	ZNF831:NM_178457:exon1:c.T2325C:p.A775A,	ZNF831:uc002yan.3:exon1:c.T2325C:p.A775A,	UNKNOWN	Het;T>C	948;52|42	Hom;T>C	2714;0|87
N	N	-	20	57769854	57769854	A	G	snp	intronic	 	 	 	 	ZNF831	Zfp831	ENSG00000124203	zinc finger protein 831	chr20:57766075-57834168		Waist-Hip Ratio; Stroke; HIV Infections|[X]Human immunodeficiency virus disease; Intercellular Adhesion Molecule-1; Myopia; Pancreatic Neoplasms	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;IBA	GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF831	https://www.uniprot.org/uniprot/Q5JPB2			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF831&submit=Quick%0D%5614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF831	rs454356	0.326478	0.2564	0.2786	1	0	0	intronic	intronic	intronic	ZNF831	ZNF831	ENSG00000124203	Na	Na	Na	Na	Na	Na	Het;A>G	1018;57|44	Hom;A>G	2027;1|69
N	N	-	20	590456	590456	A	G	snp	synonymous SNV	T426C	R142R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TCF15	Tcf15	ENSG00000125878	transcription factor 15	chr20:584441-591042	The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]		In homozygotes for a targeted null mutation, cells of the paraxial mesoderm fail to form epithelia resulting in disrupted somites, patterning defects of the axial skeleton, peripheral nerves, and skeletal muscles, and perinatal lethality.		GO:0001756;somitogenesis;IEA|GO:0003016;respiratory system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007498;mesoderm development;TAS|GO:0007517;muscle organ development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043583;ear development;IEA|GO:0043588;skin development;IEA|GO:0045198;establishment of epithelial cell apical/basal polarity;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0048644;muscle organ morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0060231;mesenchymal to epithelial transition;IEA|GO:1903053;regulation of extracellular matrix organization;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCF15	https://www.uniprot.org/uniprot/Q12870		https://www.ncbi.nlm.nih.gov/omim/?term=601010	http://www.informatics.jax.org/searchtool/Search.do?query=TCF15&submit=Quick%0D%5870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF15	rs282164	0.862021	0.7851	0.8370	1	0	0	exonic	exonic	exonic	TCF15	TCF15	ENSG00000125878	synonymous SNV	synonymous SNV	unknown	TCF15:NM_004609:exon1:c.T426C:p.R142R,	TCF15:uc002wdz.3:exon1:c.T426C:p.R142R,	UNKNOWN	Het;A>G	278;17|13	Hom;A>G	282;0|11
N	N	-	20	59829847	59829847	C	T	snp	intronic	 	 	 	 	CDH4	Cdh4	ENSG00000280641	cadherin 4	chr20:59827482-60515673	This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Tobacco Use Disorder; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Volumetric brain MRI	Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH4			https://www.ncbi.nlm.nih.gov/omim/?term=603006	http://www.informatics.jax.org/searchtool/Search.do?query=CDH4&submit=Quick%0D%22229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH4	rs3752252	0.544129	0.5608	0.6062	1	0	0	intronic	intronic	intronic	CDH4	CDH4	ENSG00000179242	Na	Na	Na	Na	Na	Na	Het;C>T	546;13|27	Hom;C>T	887;0|34
N	N	-	20	60210709	60210709	A	G	snp	intronic	 	 	 	 	CDH4	Cdh4	ENSG00000280641	cadherin 4	chr20:59827482-60515673	This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Tobacco Use Disorder; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Volumetric brain MRI	Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH4			https://www.ncbi.nlm.nih.gov/omim/?term=603006	http://www.informatics.jax.org/searchtool/Search.do?query=CDH4&submit=Quick%0D%22229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH4	rs732832	0.568091	0	0	1	0	0	intronic	intronic	intronic	CDH4	CDH4	ENSG00000179242	Na	Na	Na	Na	Na	Na	Het;A>G	47;4|4	Hom;A>G	159;0|7
N	N	-	20	60499658	60499658	G	C	snp	intronic	 	 	 	 	CDH4	Cdh4	ENSG00000280641	cadherin 4	chr20:59827482-60515673	This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Tobacco Use Disorder; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Volumetric brain MRI	Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH4			https://www.ncbi.nlm.nih.gov/omim/?term=603006	http://www.informatics.jax.org/searchtool/Search.do?query=CDH4&submit=Quick%0D%22229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH4	rs2236069	0.360823	0	0	1	0	0	intronic	intronic	intronic	CDH4	CDH4	ENSG00000179242	Na	Na	Na	Na	Na	Na	Het;G>C	404;14|14	Hom;G>C	889;0|27
N	N	-	20	60560172	60560174	CAT	C	indel	intronic	 	 	 	 	TAF4	Taf4	ENSG00000280529	TATA-box binding protein associated factor 4	chr20:60528525-60640866	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]	Stroke; Tobacco Use Disorder; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for deletions of this marker die embryonically sometime around E9.5.  Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth.		GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005669;transcription factor TFIID complex;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAF4			https://www.ncbi.nlm.nih.gov/omim/?term=601796	http://www.informatics.jax.org/searchtool/Search.do?query=TAF4&submit=Quick%0D%22214ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF4	rs34504653	0.409744	0	0	1	0	0	intronic	intronic	intronic	TAF4	TAF4	ENSG00000130699	Na	Na	Na	Na	Na	Na	Het;-AT	125;2|4	Hom;-AT	368;0|9
N	N	-	20	60572663	60572663	C	A	snp	synonymous SNV	G3033T	A1011A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TAF4	Taf4	ENSG00000280529	TATA-box binding protein associated factor 4	chr20:60528525-60640866	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]	Stroke; Tobacco Use Disorder; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for deletions of this marker die embryonically sometime around E9.5.  Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth.		GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005669;transcription factor TFIID complex;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAF4			https://www.ncbi.nlm.nih.gov/omim/?term=601796	http://www.informatics.jax.org/searchtool/Search.do?query=TAF4&submit=Quick%0D%22214ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF4	rs2296081	0.587061	0.6081	0.6131	1	0	0	exonic	exonic	exonic	TAF4	TAF4	ENSG00000130699	synonymous SNV	synonymous SNV	unknown	TAF4:NM_003185:exon14:c.G3033T:p.A1011A,	TAF4:uc002ybs.3:exon14:c.G3033T:p.A1011A,	UNKNOWN	Het;C>A	2053;135|103	Hom;C>A	4370;4|168
N	N	-	20	60574216	60574216	C	T	snp	intronic	 	 	 	 	TAF4	Taf4	ENSG00000280529	TATA-box binding protein associated factor 4	chr20:60528525-60640866	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]	Stroke; Tobacco Use Disorder; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for deletions of this marker die embryonically sometime around E9.5.  Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth.		GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005669;transcription factor TFIID complex;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAF4			https://www.ncbi.nlm.nih.gov/omim/?term=601796	http://www.informatics.jax.org/searchtool/Search.do?query=TAF4&submit=Quick%0D%22214ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF4	rs2296083	0.591853	0.6088	0.6147	1	0	0	intronic	intronic	intronic	TAF4	TAF4	ENSG00000130699	Na	Na	Na	Na	Na	Na	Het;C>T	293;17|16	Hom;C>T	639;0|24
N	N	-	20	60582540	60582540	T	A	snp	intronic	 	 	 	 	TAF4	Taf4	ENSG00000280529	TATA-box binding protein associated factor 4	chr20:60528525-60640866	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]	Stroke; Tobacco Use Disorder; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for deletions of this marker die embryonically sometime around E9.5.  Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth.		GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005669;transcription factor TFIID complex;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAF4			https://www.ncbi.nlm.nih.gov/omim/?term=601796	http://www.informatics.jax.org/searchtool/Search.do?query=TAF4&submit=Quick%0D%22214ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF4	rs2281735	0.605831	0	0	1	0	0	intronic	intronic	intronic	TAF4	TAF4	ENSG00000130699	Na	Na	Na	Na	Na	Na	Het;T>A	391;17|16	Hom;T>A	1377;0|45
N	N	-	20	60584328	60584328	T	A	snp	intronic	 	 	 	 	TAF4	Taf4	ENSG00000280529	TATA-box binding protein associated factor 4	chr20:60528525-60640866	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]	Stroke; Tobacco Use Disorder; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for deletions of this marker die embryonically sometime around E9.5.  Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth.		GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005669;transcription factor TFIID complex;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAF4			https://www.ncbi.nlm.nih.gov/omim/?term=601796	http://www.informatics.jax.org/searchtool/Search.do?query=TAF4&submit=Quick%0D%22214ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF4	rs2296087	0.323682	0	0	1	0	0	intronic	intronic	intronic	TAF4	TAF4	ENSG00000130699	Na	Na	Na	Na	Na	Na	Het;T>A	264;5|10	Hom;T>A	311;0|10
N	N	-	20	60892692	60892692	C	T	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs6062216	0.868411	0.8814	0.8886	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;C>T	635;28|31	Hom;C>T	1339;2|49
N	N	-	20	60895738	60895738	A	G	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs6089346	0.857029	0.8834	0.9118	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;A>G	1215;57|53	Hom;A>G	2435;0|85
N	N	-	20	60897071	60897071	A	G	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2274936	0.822284	0.8574	0.8744	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;A>G	631;12|29	Hom;A>G	1287;0|45
N	N	-	20	60900481	60900481	A	G	snp	nonsynonymous SNV	T5420C	F1807S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2427284	0.89397	0.9156	0.9185	0.23	3	13	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMA5:NM_005560:exon41:c.T5420C:p.F1807S,	LAMA5:uc021wfw.1:exon41:c.T5420C:p.F1807S,LAMA5:uc002ycq.3:exon41:c.T5420C:p.F1807S,	UNKNOWN	Het;A>G	825;50|41	Hom;A>G	2308;0|84
N	N	-	20	60900579	60900579	C	A	snp	synonymous SNV	G5322T	T1774T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2427285	0.89397	0.9155	0.9186	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon41:c.G5322T:p.T1774T,	LAMA5:uc021wfw.1:exon41:c.G5322T:p.T1774T,LAMA5:uc002ycq.3:exon41:c.G5322T:p.T1774T,	UNKNOWN	Het;C>A	550;74|33	Hom;C>A	2639;0|95
N	N	-	20	60902883	60902883	C	T	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs4925375	0.712859	0.6656	0.7191	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;C>T	390;18|16	Hom;C>T	703;0|23
N	N	-	20	60904853	60904853	T	C	snp	nonsynonymous SNV	A4099G	K1367E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2427286	0.908746	0.9306	0.9227	0.23	3	13	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMA5:NM_005560:exon32:c.A4099G:p.K1367E,	LAMA5:uc021wfw.1:exon32:c.A4099G:p.K1367E,LAMA5:uc002ycq.3:exon32:c.A4099G:p.K1367E,	UNKNOWN	Het;T>C	1214;64|57	Hom;T>C	2748;0|100
N	N	-	20	60905878	60905878	A	G	snp	nonsynonymous SNV	T3773C	M1258T	hydrophobic,neutral	polar,hydrophilic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs3810548	0.756589	0.8066	0.8510	0.08	1	13	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMA5:NM_005560:exon30:c.T3773C:p.M1258T,	LAMA5:uc021wfw.1:exon30:c.T3773C:p.M1258T,LAMA5:uc002ycq.3:exon30:c.T3773C:p.M1258T,	UNKNOWN	Het;A>G	1388;53|66	Hom;A>G	2748;0|100
N	N	-	20	60907446	60907446	T	C	snp	synonymous SNV	A3534G	E1178E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2151513	0.731629	0.7690	0.8570	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon28:c.A3534G:p.E1178E,	LAMA5:uc021wfw.1:exon28:c.A3534G:p.E1178E,LAMA5:uc002ycq.3:exon28:c.A3534G:p.E1178E,	UNKNOWN	Het;T>C	451;13|23	Hom;T>C	1301;0|48
N	N	-	20	60908964	60908964	G	A	snp	synonymous SNV	C2871T	C957C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs13044266	0.721446	0.7462	0.8465	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon23:c.C2871T:p.C957C,	LAMA5:uc021wfw.1:exon23:c.C2871T:p.C957C,LAMA5:uc002ycq.3:exon23:c.C2871T:p.C957C,	UNKNOWN	Het;G>A	1318;53|36	Hom;G>A	3509;0|75
N	N	-	20	60908969	60908969	T	C	snp	nonsynonymous SNV	A2866G	T956A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs13042941	0.721246	0.7479	0.8464	0.15	2	13	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMA5:NM_005560:exon23:c.A2866G:p.T956A,	LAMA5:uc021wfw.1:exon23:c.A2866G:p.T956A,LAMA5:uc002ycq.3:exon23:c.A2866G:p.T956A,	UNKNOWN	Het;T>C	1337;56|37	Hom;T>C	3640;0|87
N	N	-	20	60909060	60909060	A	G	snp	synonymous SNV	T2775C	P925P	hydrophobic,neutral	hydrophobic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs13038331	0.756589	0.7969	0.8586	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon23:c.T2775C:p.P925P,	LAMA5:uc021wfw.1:exon23:c.T2775C:p.P925P,LAMA5:uc002ycq.3:exon23:c.T2775C:p.P925P,	UNKNOWN	Het;A>G	905;74|46	Hom;A>G	2706;0|103
N	N	-	20	60909466	60909466	G	A	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2379127	0.71885	0	0	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;G>A	525;40|25	Hom;G>A	1243;0|45
N	N	-	20	60909974	60909974	T	C	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs12625368	0.756789	0	0	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;T>C	119;3|5	Hom;T>C	456;0|13
N	N	-	20	60912683	60912683	T	C	snp	synonymous SNV	A2127G	T709T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2427289	0.740815	0.7800	0.8587	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon16:c.A2127G:p.T709T,	LAMA5:uc021wfw.1:exon16:c.A2127G:p.T709T,LAMA5:uc002ycq.3:exon16:c.A2127G:p.T709T,	UNKNOWN	Het;T>C	1380;52|65	Hom;T>C	2908;0|99
N	N	-	20	60913495	60913495	T	C	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs2151512	0.50619	0.5176	0.6534	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;T>C	2133;92|97	Hom;T>C	4779;0|170
N	N	-	20	60920887	60920887	G	A	snp	synonymous SNV	C1464T	A488A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs11204472	0.522564	0.5390	0.6030	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon11:c.C1464T:p.A488A,	LAMA5:uc021wfw.1:exon11:c.C1464T:p.A488A,LAMA5:uc002ycq.3:exon11:c.C1464T:p.A488A,	UNKNOWN	Het;G>A	1089;63|56	Hom;G>A	2214;0|83
N	N	-	20	60921044	60921044	T	C	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs4925386	0.542133	0	0	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;T>C	313;24|12	Hom;T>C	1698;0|54
N	N	-	20	60927349	60927349	C	T	snp	synonymous SNV	G636A	A212A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs483876	0.751198	0.7929	0.8605	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon4:c.G636A:p.A212A,	LAMA5:uc021wfw.1:exon4:c.G636A:p.A212A,LAMA5:uc002ycq.3:exon4:c.G636A:p.A212A,	UNKNOWN	Het;C>T	803;54|37	Hom;C>T	3176;0|120
N	N	-	20	60927412	60927412	G	A	snp	synonymous SNV	C573T	S191S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs624313	0.51897	0.5159	0.6360	1	0	0	exonic	exonic	exonic	LAMA5	LAMA5	ENSG00000130702	synonymous SNV	synonymous SNV	unknown	LAMA5:NM_005560:exon4:c.C573T:p.S191S,	LAMA5:uc021wfw.1:exon4:c.C573T:p.S191S,LAMA5:uc002ycq.3:exon4:c.C573T:p.S191S,	UNKNOWN	Het;G>A	551;21|26	Hom;G>A	2293;0|88
N	N	-	20	60927482	60927482	G	A	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs482220	0.523762	0	0	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;G>A	173;5|6	Hom;G>A	630;0|21
N	N	-	20	60927538	60927538	C	T	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs623834	0.467053	0	0	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;C>T	59;4|3	Hom;C>T	277;0|7
N	N	-	20	60927551	60927551	A	G	snp	intronic	 	 	 	 	LAMA5	Lama5	ENSG00000130702	laminin subunit alpha 5	chr20:60883011-60942368	This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]	Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms	Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.	MET activates PTK2 signaling	GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/LAMA5	https://www.uniprot.org/uniprot/O15230		https://www.ncbi.nlm.nih.gov/omim/?term=601033	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5	rs482010	0.519569	0	0	1	0	0	intronic	intronic	intronic	LAMA5	LAMA5	ENSG00000130702	Na	Na	Na	Na	Na	Na	Het;A>G	34;5|2	Hom;A>G	242;0|6
N	N	-	20	60930334	60930334	C	T	snp	ncRNA_exonic	 	 	 	 	LAMA5-AS1																		rs688157	0.533746	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LAMA5-AS1	LAMA5	ENSG00000228812	Na	Na	Na	Na	Na	Na	Het;C>T	492;24|23	Hom;C>T	953;2|37
N	N	-	20	61141981	61141981	T	G	snp	ncRNA_exonic	 	 	 	 	C20orf166-AS1																		rs6062284	0.564297	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_exonic	C20orf166-AS1	C20orf166-AS1(uc002ycz.3:c.*1873A>C)	ENSG00000174403	Na	Na	Na	Na	Na	Na	Het;T>G	128;14|7	Hom;T>G	1149;0|40
N	N	-	20	61143279	61143279	T	C	snp	ncRNA_exonic	 	 	 	 	C20orf166-AS1																		rs7271454	0.552915	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	C20orf166-AS1	C20orf166-AS1(uc002ycz.3:c.*575A>G)	ENSG00000174403	Na	Na	Na	Na	Na	Na	Het;T>C	1316;37|54	Hom;T>C	3479;0|126
N	N	-	20	61143487	61143487	T	C	snp	nonsynonymous SNV	A361G	I121V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C20orf166-AS1																		rs3934574	0.551518	0.5328	0.5605	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	C20orf166-AS1	C20orf166-AS1	ENSG00000174403	Na	nonsynonymous SNV	Na	Na	C20orf166-AS1:uc021wfy.2:exon1:c.A361G:p.I121V,	Na	Het;T>C	2515;128|117	Hom;T>C	5027;2|178
N	N	-	20	61143945	61143945	T	G	snp	nonsynonymous SNV	A275C	Q92P	polar,hydrophilic,neutral	hydrophobic,neutral	C20orf166-AS1																		rs3934573	0.497204	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	C20orf166-AS1	C20orf166-AS1	ENSG00000174403	Na	nonsynonymous SNV	Na	Na	C20orf166-AS1:uc002ycz.3:exon3:c.A275C:p.Q92P,	Na	Het;T>G	1400;77|65	Hom;T>G	4392;0|117
N	N	-	20	61144941	61144941	A	G	snp	ncRNA_intronic	 	 	 	 	C20orf166-AS1																		rs6062278	0.566693	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	C20orf166-AS1	C20orf166-AS1	ENSG00000174403	Na	Na	Na	Na	Na	Na	Het;A>G	1304;52|61	Hom;A>G	3446;0|113
N	N	-	20	61145597	61145597	A	G	snp	ncRNA_exonic	 	 	 	 	C20orf166-AS1																		rs6062277	0.570687	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	C20orf166-AS1	C20orf166-AS1	ENSG00000174403	Na	Na	Na	Na	Na	Na	Het;A>G	1277;78|60	Hom;A>G	3155;0|112
N	N	-	20	61150928	61150928	A	G	snp	intronic	 	 	 	 	MIR1-1HG																		rs12624794	0.567292	0	0	1	0	0	intronic	intronic	intronic	MIR1-1HG	C20orf166	ENSG00000174407	Na	Na	Na	Na	Na	Na	Het;A>G	868;33|42	Hom;A>G	1317;0|47
N	N	-	20	61179499	61179499	C	G	snp	intergenic	 	 	 	 	BX640514.1																		rs28567483	0.772364	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1-1HG(dist=11528),SLCO4A1(dist=94298)	C20orf166(dist=11528),SLCO4A1(dist=94298)	ENSG00000264490(dist=4785),ENSG00000232121(dist=85534)	Na	Na	Na	Na	Na	Na	Het;C>G	41;5|2	Hom;C>G	161;0|6
N	N	-	20	61202523	61202523	A	G	snp	intergenic	 	 	 	 	BX640514.1																		rs28442088	0.511382	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1-1HG(dist=34552),SLCO4A1(dist=71274)	C20orf166(dist=34552),SLCO4A1(dist=71274)	ENSG00000264490(dist=27809),ENSG00000232121(dist=62510)	Na	Na	Na	Na	Na	Na	Het;A>G	203;1|9	Hom;A>G	92;0|4
N	N	-	20	61666495	61666531	AGCAGGACACGCATGCAGGGTCACGGGTCAGCCACCC	A	indel	ncRNA_intronic	 	 	 	 	LINC00029																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00029,LOC63930	LINC00029,LOC63930	ENSG00000125514,ENSG00000272259	Na	Na	Na	Na	Na	Na	Het;-GCAGGACACGCATGCAGGGTCACGGGTCAGCCACCC	125;2|5	Hom;-GCAGGACACGCATGCAGGGTCACGGGTCAGCCACCC	542;0|17
N	N	-	20	61727060	61727060	C	G	snp	ncRNA_exonic	 	 	 	 	HAR1B																		rs12625159	0.577276	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HAR1B	HAR1B	ENSG00000231133	Na	Na	Na	Na	Na	Na	Het;C>G	1197;86|57	Hom;C>G	3995;0|149
N	N	-	20	61882102	61882102	A	G	snp	intronic	 	 	 	 	NKAIN4	Nkain4	ENSG00000101198	sodium/potassium transporting ATPase interacting 4	chr20:61872136-61904046	NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]		 		GO:0002028;regulation of sodium ion transport;IBA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NKAIN4	https://www.uniprot.org/uniprot/Q8IVV8		https://www.ncbi.nlm.nih.gov/omim/?term=612873	http://www.informatics.jax.org/searchtool/Search.do?query=NKAIN4&submit=Quick%0D%2677ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKAIN4	rs79931870	0.0493211	0	0	1	0	0	intronic	intronic	intronic	NKAIN4	NKAIN4	ENSG00000101198	Na	Na	Na	Na	Na	Na	Het;A>G	75;5|4	Hom;A>G	143;0|5
N	N	-	20	61918164	61918164	C	G	snp	ncRNA_exonic	 	 	 	 	MIR4326																		rs6062431	0.690296	0	0.6357	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4326	MIR4326	ENSG00000266104	Na	Na	Na	Na	Na	Na	Het;C>G	258;14|13	Hom;C>G	799;0|30
N	N	-	20	62074003	62074006	TCAC	T	indel	intronic	 	 	 	 	KCNQ2	Kcnq2	ENSG00000281151	potassium voltage-gated channel subfamily Q member 2	chr20:62037542-62103993	The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	epilepsy; Epilepsy|Syndrome	Mice homozygous for a null mutation die perinatally with pulmonary atelectasis.  Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole.  Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNQ2		https://hpo.jax.org/app/browse/search?q=KCNQ2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602235	http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ2&submit=Quick%0D%22275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ2	rs372494294	0	0	0	1	0	0	intronic	intronic	intronic	KCNQ2	KCNQ2	ENSG00000075043	Na	Na	Na	Na	Na	Na	Het;-CAC	41;2|2	Hom;-CAC	267;0|7
N	N	-	20	62078360	62078360	G	A	snp	intronic	 	 	 	 	KCNQ2	Kcnq2	ENSG00000281151	potassium voltage-gated channel subfamily Q member 2	chr20:62037542-62103993	The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	epilepsy; Epilepsy|Syndrome	Mice homozygous for a null mutation die perinatally with pulmonary atelectasis.  Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole.  Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNQ2		https://hpo.jax.org/app/browse/search?q=KCNQ2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602235	http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ2&submit=Quick%0D%22275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ2	rs2297387	0.597045	0	0	1	0	0	intronic	intronic	intronic	KCNQ2	KCNQ2	ENSG00000075043	Na	Na	Na	Na	Na	Na	Het;G>A	66;4|3	Hom;G>A	152;0|5
N	N	-	20	62124459	62124459	G	T	snp	intronic	 	 	 	 	EEF1A2	Eef1a2	ENSG00000101210	eukaryotic translation elongation factor 1 alpha 2	chr20:62119366-62130505	This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]	Early infantile epileptic encephalopathy 5	Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age.	Eukaryotic Translation Elongation	GO:0006412;translation;IEA|GO:0006414;translational elongation;IEA|GO:0010035;response to inorganic substance;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0090218;positive regulation of lipid kinase activity;IDA|GO:1904714;regulation of chaperone-mediated autophagy;NAS	GO:0005737;cytoplasm;IDA|GO:0005853;eukaryotic translation elongation factor 1 complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0098574;cytoplasmic side of lysosomal membrane;NAS	GO:0000166;nucleotide binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0003924;GTPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008135;translation factor activity, RNA binding;NAS|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EEF1A2	https://www.uniprot.org/uniprot/Q05639	https://hpo.jax.org/app/browse/search?q=EEF1A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602959	http://www.informatics.jax.org/searchtool/Search.do?query=EEF1A2&submit=Quick%0D%2682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EEF1A2	rs12480745	0.166534	0.1861	0.2579	1	0	0	intronic	intronic	intronic	EEF1A2	EEF1A2	ENSG00000101210	Na	Na	Na	Na	Na	Na	Het;G>T	207;10|11	Hom;G>T	839;0|33
N	N	-	20	62127121	62127121	T	C	snp	intronic	 	 	 	 	EEF1A2	Eef1a2	ENSG00000101210	eukaryotic translation elongation factor 1 alpha 2	chr20:62119366-62130505	This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]	Early infantile epileptic encephalopathy 5	Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age.	Eukaryotic Translation Elongation	GO:0006412;translation;IEA|GO:0006414;translational elongation;IEA|GO:0010035;response to inorganic substance;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0090218;positive regulation of lipid kinase activity;IDA|GO:1904714;regulation of chaperone-mediated autophagy;NAS	GO:0005737;cytoplasm;IDA|GO:0005853;eukaryotic translation elongation factor 1 complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0098574;cytoplasmic side of lysosomal membrane;NAS	GO:0000166;nucleotide binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0003924;GTPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008135;translation factor activity, RNA binding;NAS|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EEF1A2	https://www.uniprot.org/uniprot/Q05639	https://hpo.jax.org/app/browse/search?q=EEF1A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602959	http://www.informatics.jax.org/searchtool/Search.do?query=EEF1A2&submit=Quick%0D%2682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EEF1A2	rs310618	0.509185	0	0	1	0	0	intronic	intronic	intronic	EEF1A2	EEF1A2	ENSG00000101210	Na	Na	Na	Na	Na	Na	Het;T>C	75;7|5	Hom;T>C	259;0|8
N	N	-	20	62127521	62127521	G	A	snp	intronic	 	 	 	 	EEF1A2	Eef1a2	ENSG00000101210	eukaryotic translation elongation factor 1 alpha 2	chr20:62119366-62130505	This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]	Early infantile epileptic encephalopathy 5	Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age.	Eukaryotic Translation Elongation	GO:0006412;translation;IEA|GO:0006414;translational elongation;IEA|GO:0010035;response to inorganic substance;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0090218;positive regulation of lipid kinase activity;IDA|GO:1904714;regulation of chaperone-mediated autophagy;NAS	GO:0005737;cytoplasm;IDA|GO:0005853;eukaryotic translation elongation factor 1 complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0098574;cytoplasmic side of lysosomal membrane;NAS	GO:0000166;nucleotide binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0003924;GTPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008135;translation factor activity, RNA binding;NAS|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EEF1A2	https://www.uniprot.org/uniprot/Q05639	https://hpo.jax.org/app/browse/search?q=EEF1A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602959	http://www.informatics.jax.org/searchtool/Search.do?query=EEF1A2&submit=Quick%0D%2682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EEF1A2	rs310619	0.516174	0	0	1	0	0	intronic	intronic	intronic	EEF1A2	EEF1A2	ENSG00000101210	Na	Na	Na	Na	Na	Na	Het;G>A	106;3|4	Hom;G>A	293;0|9
N	N	-	20	62163812	62163812	G	T	snp	intronic	 	 	 	 	PTK6	Ptk6	ENSG00000101213	protein tyrosine kinase 6	chr20:62159778-62168723	The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation.	PTK6 promotes HIF1A stabilization	GO:0006468;protein phosphorylation;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007260;tyrosine phosphorylation of STAT protein;IDA|GO:0009968;negative regulation of signal transduction;TAS|GO:0010976;positive regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IDA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045787;positive regulation of cell cycle;TAS|GO:0045926;negative regulation of growth;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0060575;intestinal epithelial cell differentiation;IEA|GO:0061099;negative regulation of protein tyrosine kinase activity;IDA|GO:0071300;cellular response to retinoic acid;IMP	GO:0001726;ruffle;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTK6	https://www.uniprot.org/uniprot/Q13882		https://www.ncbi.nlm.nih.gov/omim/?term=602004	http://www.informatics.jax.org/searchtool/Search.do?query=PTK6&submit=Quick%0D%2683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTK6	rs13041839	0.0828674	0	0	1	0	0	intronic	intronic	intronic	PTK6	PTK6	ENSG00000101213	Na	Na	Na	Na	Na	Na	Het;G>T	469;7|21	Hom;G>T	820;0|29
N	N	-	20	62173029	62173029	A	G	snp	intronic	 	 	 	 	SRMS	Srms	ENSG00000125508	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	chr20:62172163-62178857			Homozygous mice exhibit no detectable abnormalities.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009968;negative regulation of signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IDA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SRMS	https://www.uniprot.org/uniprot/Q9H3Y6			http://www.informatics.jax.org/searchtool/Search.do?query=SRMS&submit=Quick%0D%5789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRMS	rs310656	0.94349	0	0	1	0	0	intronic	intronic	intronic	SRMS	SRMS	ENSG00000125508	Na	Na	Na	Na	Na	Na	Het;A>G	314;31|16	Hom;A>G	972;0|36
N	N	-	20	62187187	62187187	T	C	snp	synonymous SNV	T171C	S57S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C20orf195	BC051628																	rs3746348	0.663139	0.4607	0.5441	1	0	0	exonic	exonic	exonic	C20orf195	C20orf195	ENSG00000125531	synonymous SNV	synonymous SNV	unknown	C20orf195:NM_024059:exon2:c.T171C:p.S57S,	C20orf195:uc021wgc.1:exon1:c.T171C:p.S57S,C20orf195:uc002yfj.3:exon2:c.T171C:p.S57S,	UNKNOWN	Het;T>C	2144;93|93	Hom;T>C	6048;3|211
N	N	-	20	62187439	62187439	T	C	snp	synonymous SNV	T423C	D141D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	C20orf195	BC051628																	rs734750	0.683706	0.4935	0.5716	1	0	0	exonic	exonic	exonic	C20orf195	C20orf195	ENSG00000125531	synonymous SNV	synonymous SNV	unknown	C20orf195:NM_024059:exon2:c.T423C:p.D141D,	C20orf195:uc021wgc.1:exon1:c.T423C:p.D141D,C20orf195:uc002yfj.3:exon2:c.T423C:p.D141D,	UNKNOWN	Het;T>C	1167;79|55	Hom;T>C	2748;0|91
N	N	-	20	62191475	62191475	T	G	snp	intronic	 	 	 	 	HELZ2	Helz2	ENSG00000130589	helicase with zinc finger 2	chr20:62189439-62205592	The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet.	RUNX3 regulates YAP1-mediated transcription	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ2	https://www.uniprot.org/uniprot/Q9BYK8		https://www.ncbi.nlm.nih.gov/omim/?term=611265	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ2&submit=Quick%0D%6396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ2	rs3810478	0.433706	0.3081	0.4324	1	0	0	intronic	intronic	intronic	HELZ2	HELZ2	ENSG00000130589	Na	Na	Na	Na	Na	Na	Het;T>G	608;51|27	Hom;T>G	1607;0|55
N	N	-	20	62193587	62193587	T	C	snp	intronic	 	 	 	 	HELZ2	Helz2	ENSG00000130589	helicase with zinc finger 2	chr20:62189439-62205592	The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet.	RUNX3 regulates YAP1-mediated transcription	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ2	https://www.uniprot.org/uniprot/Q9BYK8		https://www.ncbi.nlm.nih.gov/omim/?term=611265	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ2&submit=Quick%0D%6396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ2	rs3810482	0.280551	0.2206	0.2895	1	0	0	intronic	intronic	intronic	HELZ2	HELZ2	ENSG00000130589	Na	Na	Na	Na	Na	Na	Het;T>C	462;20|21	Hom;T>C	1426;0|50
N	N	-	20	62194030	62194030	G	C	snp	nonsynonymous SNV	C6145G	Q2049E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	HELZ2	Helz2	ENSG00000130589	helicase with zinc finger 2	chr20:62189439-62205592	The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet.	RUNX3 regulates YAP1-mediated transcription	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ2	https://www.uniprot.org/uniprot/Q9BYK8		https://www.ncbi.nlm.nih.gov/omim/?term=611265	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ2&submit=Quick%0D%6396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ2	rs3810483	0.536741	0.3968	0.5245	0.23	3	13	exonic	exonic	exonic	HELZ2	HELZ2	ENSG00000130589	nonsynonymous SNV	nonsynonymous SNV	unknown	HELZ2:NM_001037335:exon9:c.C6145G:p.Q2049E,HELZ2:NM_033405:exon3:c.C4438G:p.Q1480E,	HELZ2:uc002yfl.1:exon3:c.C4438G:p.Q1480E,HELZ2:uc002yfm.2:exon9:c.C6145G:p.Q2049E,	UNKNOWN	Het;G>C	1235;53|54	Hom;G>C	3441;2|121
N	N	-	20	62194103	62194103	A	G	snp	synonymous SNV	T4365C	P1455P	hydrophobic,neutral	hydrophobic,neutral	HELZ2	Helz2	ENSG00000130589	helicase with zinc finger 2	chr20:62189439-62205592	The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet.	RUNX3 regulates YAP1-mediated transcription	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ2	https://www.uniprot.org/uniprot/Q9BYK8		https://www.ncbi.nlm.nih.gov/omim/?term=611265	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ2&submit=Quick%0D%6396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ2	rs3810484	0.547125	0.3982	0.5158	1	0	0	exonic	exonic	exonic	HELZ2	HELZ2	ENSG00000130589	synonymous SNV	synonymous SNV	unknown	HELZ2:NM_001037335:exon9:c.T6072C:p.P2024P,HELZ2:NM_033405:exon3:c.T4365C:p.P1455P,	HELZ2:uc002yfl.1:exon3:c.T4365C:p.P1455P,HELZ2:uc002yfm.2:exon9:c.T6072C:p.P2024P,	UNKNOWN	Het;A>G	1080;63|51	Hom;A>G	3367;2|120
N	N	-	20	62194128	62194128	G	A	snp	nonsynonymous SNV	C6047T	P2016L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	HELZ2	Helz2	ENSG00000130589	helicase with zinc finger 2	chr20:62189439-62205592	The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet.	RUNX3 regulates YAP1-mediated transcription	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELZ2	https://www.uniprot.org/uniprot/Q9BYK8		https://www.ncbi.nlm.nih.gov/omim/?term=611265	http://www.informatics.jax.org/searchtool/Search.do?query=HELZ2&submit=Quick%0D%6396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ2	rs3810485	0.274561	0.2418	0.3035	0.15	2	13	exonic	exonic	exonic	HELZ2	HELZ2	ENSG00000130589	nonsynonymous SNV	nonsynonymous SNV	unknown	HELZ2:NM_001037335:exon9:c.C6047T:p.P2016L,HELZ2:NM_033405:exon3:c.C4340T:p.P1447L,	HELZ2:uc002yfl.1:exon3:c.C4340T:p.P1447L,HELZ2:uc002yfm.2:exon9:c.C6047T:p.P2016L,	UNKNOWN	Het;G>A	973;69|49	Hom;G>A	3423;2|121
N	N	-	20	62320674	62320674	C	T	snp	ncRNA_intronic	 	 	 	 	RTEL1-TNFRSF6B	Rtel1	ENSG00000026036	RTEL1-TNFRSF6B readthrough (NMD candidate)	chr20:62290653-62330037	This locus represents naturally occurring read-through transcription between the neighboring RTEL1 (regulator of telomere elongation helicase 1) and TNFRSF6B (tumor necrosis factor receptor superfamily, member 6b, decoy) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011]		Homozygous null mice display embryonic lethality with abnormal development of the neural tube, brain, heart, vasculature, placenta, and allantois and chromosomal abnormalities in differentiating cells.		GO:0000723;telomere maintenance;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010569;regulation of double-strand break repair via homologous recombination;IEA|GO:0032508;DNA duplex unwinding;IEA	GO:0005634;nucleus;IEA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RTEL1-TNFRSF6B	https://www.uniprot.org/uniprot/F6WH68			http://www.informatics.jax.org/searchtool/Search.do?query=RTEL1-TNFRSF6B&submit=Quick%0D%708ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTEL1-TNFRSF6B	rs16983884	0.129593	0	0	1	0	0	ncRNA_intronic	intronic	intronic	RTEL1-TNFRSF6B	RTEL1,RTEL1-TNFRSF6B	ENSG00000026036,ENSG00000258366	Na	Na	Na	Na	Na	Na	Het;C>T	67;2|3	Hom;C>T	113;0|4
N	N	-	20	62698844	62698849	GCTGGA	G	indel	intronic	 	 	 	 	TCEA2	Tcea2	ENSG00000171703	transcription elongation factor A2	chr20:62681189-62703700	The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Waist-Hip Ratio	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;NAS|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006414;translational elongation;IEA|GO:0032784;regulation of DNA-templated transcription, elongation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA|GO:0008023;transcription elongation factor complex;NAS	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCEA2			https://www.ncbi.nlm.nih.gov/omim/?term=604784	http://www.informatics.jax.org/searchtool/Search.do?query=TCEA2&submit=Quick%0D%12989ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCEA2	rs371799362	0.221446	0	0	1	0	0	intronic	intronic	intronic	TCEA2	TCEA2	ENSG00000171703	Na	Na	Na	Na	Na	Na	Het;-CTGGA	315;2|9	Hom;-CTGGA	463;0|12
N	N	-	20	62836520	62836520	T	C	snp	intronic	 	 	 	 	MYT1	Myt1	ENSG00000276876	myelin transcription factor 1	chr20:62783144-62873604	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]	Basophils; breast cancer 	Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYT1			https://www.ncbi.nlm.nih.gov/omim/?term=600379	http://www.informatics.jax.org/searchtool/Search.do?query=MYT1&submit=Quick%0D%21705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYT1	rs6062662	0.196086	0.1975	0	1	0	0	intronic	intronic	intronic	MYT1	MYT1	ENSG00000196132	Na	Na	Na	Na	Na	Na	Het;T>C	727;28|33	Hom;T>C	1284;0|48
N	N	-	20	62851020	62851020	T	C	snp	intronic	 	 	 	 	MYT1	Myt1	ENSG00000276876	myelin transcription factor 1	chr20:62783144-62873604	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]	Basophils; breast cancer 	Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYT1			https://www.ncbi.nlm.nih.gov/omim/?term=600379	http://www.informatics.jax.org/searchtool/Search.do?query=MYT1&submit=Quick%0D%21705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYT1	rs6122274	0.248802	0.2869	0.2266	1	0	0	intronic	intronic	intronic	MYT1	MYT1	ENSG00000196132	Na	Na	Na	Na	Na	Na	Het;T>C	360;17|16	Hom;T>C	1282;0|48
N	N	-	20	62854417	62854417	C	T	snp	intronic	 	 	 	 	MYT1	Myt1	ENSG00000276876	myelin transcription factor 1	chr20:62783144-62873604	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]	Basophils; breast cancer 	Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYT1			https://www.ncbi.nlm.nih.gov/omim/?term=600379	http://www.informatics.jax.org/searchtool/Search.do?query=MYT1&submit=Quick%0D%21705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYT1	rs34047908	0.101837	0.1372	0.1310	1	0	0	intronic	intronic	intronic	MYT1	MYT1	ENSG00000196132	Na	Na	Na	Na	Na	Na	Het;C>T	700;35|32	Hom;C>T	2206;0|85
N	N	-	20	62868043	62868043	A	C	snp	intronic	 	 	 	 	MYT1	Myt1	ENSG00000276876	myelin transcription factor 1	chr20:62783144-62873604	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]	Basophils; breast cancer 	Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYT1			https://www.ncbi.nlm.nih.gov/omim/?term=600379	http://www.informatics.jax.org/searchtool/Search.do?query=MYT1&submit=Quick%0D%21705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYT1	rs2983431	0.165535	0.1776	0.1282	1	0	0	intronic	intronic	intronic	MYT1	MYT1	ENSG00000196132	Na	Na	Na	Na	Na	Na	Het;A>C	248;10|12	Hom;A>C	384;0|16
N	N	-	20	62868948	62868948	A	G	snp	intronic	 	 	 	 	MYT1	Myt1	ENSG00000276876	myelin transcription factor 1	chr20:62783144-62873604	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]	Basophils; breast cancer 	Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYT1			https://www.ncbi.nlm.nih.gov/omim/?term=600379	http://www.informatics.jax.org/searchtool/Search.do?query=MYT1&submit=Quick%0D%21705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYT1	rs3003145	0.223442	0	0	1	0	0	intronic	intronic	intronic	MYT1	MYT1	ENSG00000196132	Na	Na	Na	Na	Na	Na	Het;A>G	95;8|4	Hom;A>G	86;0|3
N	N	-	20	62871009	62871009	G	A	snp	intronic	 	 	 	 	MYT1	Myt1	ENSG00000276876	myelin transcription factor 1	chr20:62783144-62873604	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]	Basophils; breast cancer 	Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYT1			https://www.ncbi.nlm.nih.gov/omim/?term=600379	http://www.informatics.jax.org/searchtool/Search.do?query=MYT1&submit=Quick%0D%21705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYT1	rs3003148	0.121605	0	0	1	0	0	intronic	intronic	intronic	MYT1	MYT1	ENSG00000196132	Na	Na	Na	Na	Na	Na	Het;G>A	300;4|12	Hom;G>A	400;0|14
N	N	-	20	62871232	62871232	C	T	snp	synonymous SNV	C2190T	L730L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MYT1	Myt1	ENSG00000276876	myelin transcription factor 1	chr20:62783144-62873604	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]	Basophils; breast cancer 	Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYT1			https://www.ncbi.nlm.nih.gov/omim/?term=600379	http://www.informatics.jax.org/searchtool/Search.do?query=MYT1&submit=Quick%0D%21705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYT1	rs3003149	0.164337	0.1773	0.1276	1	0	0	exonic	exonic	exonic	MYT1	MYT1	ENSG00000196132	synonymous SNV	synonymous SNV	unknown	MYT1:NM_004535:exon22:c.C3213T:p.L1071L,	MYT1:uc002yij.3:exon16:c.C2190T:p.L730L,MYT1:uc002yii.3:exon22:c.C3213T:p.L1071L,	UNKNOWN	Het;C>T	1113;61|57	Hom;C>T	3105;2|122
N	N	-	20	62904542	62904542	A	G	snp	intronic	 	 	 	 	PCMTD2	Pcmtd2	ENSG00000280663	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	chr20:62887094-62926855			 		GO:0006464;cellular protein modification process;IEA|GO:0006479;protein methylation;IEA|GO:0032259;methylation;IEA	GO:0005737;cytoplasm;IEA	GO:0004719;protein-L-isoaspartate (D-aspartate) O-methyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PCMTD2				http://www.informatics.jax.org/searchtool/Search.do?query=PCMTD2&submit=Quick%0D%22231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCMTD2	rs6062361	0.500799	0.5597	0.4675	1	0	0	intronic	intronic	intronic	PCMTD2	PCMTD2	ENSG00000203880	Na	Na	Na	Na	Na	Na	Het;A>G	190;10|9	Hom;A>G	639;0|22
N	N	-	20	62923305	62923305	A	G	snp	ncRNA_exonic	 	 	 	 	CICP4																		rs761821825	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00266-1	LINC00266-1	ENSG00000232852	Na	Na	Na	Na	Na	Na	Het;A>G	203;1|6	Hom;A>G	180;0|5
N	N	-	20	62959184	62959184	T	C	snp	intergenic	 	 	 	 	LINC00266-1																		rs2760707	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00266-1(dist=24477),NONE(dist=NONE)	LINC00266-1(dist=24477),NONE(dist=NONE)	ENSG00000149656(dist=14699),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	432;14|20	Hom;T>C	71;0|4
N	N	-	20	6304002	6304002	A	ATG	indel	intergenic	 	 	 	 	ENSG00000221449																		rs143621419	0.400958	0	0	1	0	0	intergenic	intergenic	intergenic	FERMT1(dist=199811),CASC20(dist=103377)	FERMT1(dist=199811),BMP2(dist=444743)	ENSG00000221449(dist=94407),ENSG00000229876(dist=123368)	Na	Na	Na	Na	Na	Na	Het;+TG	93;5|5	Hom;+TG	35;0|2
N	N	-	20	6751034	6751034	A	G	snp	synonymous SNV	A261G	S87S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	BMP2	Bmp2	ENSG00000125845	bone morphogenetic protein 2	chr20:6748311-6760927	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; osteoarthritis; Type 2 Diabetes| edema | rosiglitazone; Body Height; Osteoporosis|Overweight; SIDS/sudden infant death syndrome; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; Cleft Lip|Cleft Palate; Ossification of Posterior Longitudinal Ligament; null; Uric Acid; C-Reactive Protein; bone density; Chronic renal failure|Kidney Failure, Chronic; Calcinosis|Diabetes Mellitus, Type 2|; Erythrocyte Count; osteoporosis; iron burden; Body mass index; Erythrocytes; Cholesterol, HDL; height; Hemochromatosis; Calcium; Heart Failure; Echocardiography; obesity; colorectal cancer; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Coronary Disease; Bone Mineral Density; Abortion, Spontaneous; Narcolepsy; Triglycerides; Hyperparathyroidism, Secondary; Stroke; Height	Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity.	Molecules associated with elastic fibres	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000187;activation of MAPK activity;IDA|GO:0001501;skeletal system development;TAS|GO:0001503;ossification;IEA|GO:0001649;osteoblast differentiation;IDA|GO:0001658;branching involved in ureteric bud morphogenesis;ISS|GO:0001666;response to hypoxia;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0002062;chondrocyte differentiation;IDA|GO:0003130;BMP signaling pathway involved in heart induction;IDA|GO:0003181;atrioventricular valve morphogenesis;ISS|GO:0003203;endocardial cushion morphogenesis;ISS|GO:0003308;negative regulation of Wnt signaling pathway involved in heart development;IDA|GO:0006029;proteoglycan metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;ISS|GO:0007219;Notch signaling pathway;ISS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009790;embryo development;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010628;positive regulation of gene expression;IGI|GO:0010629;negative regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010894;negative regulation of steroid biosynthetic process;IDA|GO:0010922;positive regulation of phosphatase activity;IDA|GO:0021537;telencephalon development;IDA|GO:0021978;telencephalon regionalization;ISS|GO:0030154;cell differentiation;IEA|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030335;positive regulation of cell migration;ISS|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030509;BMP signaling pathway;TAS|GO:0031648;protein destabilization;IEA|GO:0032092;positive regulation of protein binding;IDA|GO:0032348;negative regulation of aldosterone biosynthetic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;ISS|GO:0035051;cardiocyte differentiation;IMP|GO:0035054;embryonic heart tube anterior/posterior pattern specification;ISS|GO:0035630;bone mineralization involved in bone maturation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0042482;positive regulation of odontogenesis;ISS|GO:0042487;regulation of odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043569;negative regulation of insulin-like growth factor receptor signaling pathway;IDA|GO:0045165;cell fate commitment;ISS|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045600;positive regulation of fat cell differentiation;ISS|GO:0045666;positive regulation of neuron differentiation;ISS|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0045778;positive regulation of ossification;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048468;cell development;IBA|GO:0048711;positive regulation of astrocyte differentiation;ISS|GO:0048762;mesenchymal cell differentiation;IDA|GO:0048839;inner ear development;ISS|GO:0051042;negative regulation of calcium-independent cell-cell adhesion;IDA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IMP|GO:0055008;cardiac muscle tissue morphogenesis;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0060039;pericardium development;ISS|GO:0060128;corticotropin hormone secreting cell differentiation;ISS|GO:0060129;thyroid-stimulating hormone-secreting cell differentiation;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IDA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060485;mesenchyme development;IMP|GO:0060804;positive regulation of Wnt signaling pathway by BMP signaling pathway;ISS|GO:0061036;positive regulation of cartilage development;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071773;cellular response to BMP stimulus;IDA|GO:0072138;mesenchymal cell proliferation involved in ureteric bud development;ISS|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEP|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1901522;positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:2000065;negative regulation of cortisol biosynthetic process;IDA|GO:2000726;negative regulation of cardiac muscle cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070724;BMP receptor complex;IDA	GO:0004745;retinol dehydrogenase activity;ISS|GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019211;phosphatase activator activity;IDA|GO:0039706;co-receptor binding;IPI|GO:0046332;SMAD binding;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0070700;BMP receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BMP2	https://www.uniprot.org/uniprot/P12643	https://hpo.jax.org/app/browse/search?q=BMP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=112261	http://www.informatics.jax.org/searchtool/Search.do?query=BMP2&submit=Quick%0D%5856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BMP2	rs1049007	0.746006	0.7083	0.6723	1	0	0	exonic	exonic	exonic	BMP2	BMP2	ENSG00000125845	synonymous SNV	synonymous SNV	unknown	BMP2:NM_001200:exon2:c.A261G:p.S87S,	BMP2:uc002wmu.1:exon2:c.A261G:p.S87S,	UNKNOWN	Het;A>G	625;42|33	Hom;A>G	2011;0|72
N	N	-	20	6959832	6959832	C	T	snp	intergenic	 	 	 	 	ENSG00000251833																		rs6117536	0.464856	0	0	1	0	0	intergenic	intergenic	intergenic	BMP2(dist=198922),LINC01428(dist=167282)	BMP2(dist=198922),BC043288(dist=368282)	ENSG00000251833(dist=118077),ENSG00000232271(dist=90429)	Na	Na	Na	Na	Na	Na	Het;C>T	753;31|36	Hom;C>T	1546;0|59
N	N	-	20	76962	76962	T	C	snp	synonymous SNV	T375C	S125S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DEFB125		ENSG00000178591	defensin beta 125	chr20:67891-77735	Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]	Myocardial Infarction		Defensins	GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DEFB125				http://www.informatics.jax.org/searchtool/Search.do?query=DEFB125&submit=Quick%0D%14204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB125	rs6111385	0.773363	0.8149	0.7862	1	0	0	exonic	exonic	exonic	DEFB125	DEFB125	ENSG00000178591	synonymous SNV	synonymous SNV	unknown	DEFB125:NM_153325:exon2:c.T375C:p.S125S,	DEFB125:uc002wcw.3:exon2:c.T375C:p.S125S,	UNKNOWN	Het;T>C	4121;203|196	Hom;T>C	9336;6|356
N	N	-	20	7752335	7752335	C	T	snp	intergenic	 	 	 	 	ENSG00000221726																		rs6077250	0.309305	0	0	1	0	0	intergenic	intergenic	intergenic	MIR8062(dist=399996),HAO1(dist=111296)	Metazoa_SRP(dist=137837),HAO1(dist=111296)	ENSG00000221726(dist=74711),ENSG00000215586(dist=60110)	Na	Na	Na	Na	Na	Na	Het;C>T	1080;117|63	Hom;C>T	2601;2|103
N	N	-	20	7752366	7752366	C	T	snp	intergenic	 	 	 	 	ENSG00000221726																		rs6077251	0.182508	0	0	1	0	0	intergenic	intergenic	intergenic	MIR8062(dist=400027),HAO1(dist=111265)	Metazoa_SRP(dist=137868),HAO1(dist=111265)	ENSG00000221726(dist=74742),ENSG00000215586(dist=60079)	Na	Na	Na	Na	Na	Na	Het;C>T	952;116|59	Hom;C>T	2429;2|98
N	N	-	20	7812208	7812208	A	G	snp	downstream	 	 	 	 	AL031679.1																		rs2423278	0.355631	0	0	1	0	0	intergenic	intergenic	downstream	MIR8062(dist=459869),HAO1(dist=51423)	Metazoa_SRP(dist=197710),HAO1(dist=51423)	ENSG00000215586	Na	Na	Na	Na	Na	Na	Het;A>G	281;8|12	Hom;A>G	684;0|24
N	N	-	20	7812350	7812350	T	C	snp	downstream	 	 	 	 	AL031679.1																		rs2423279	0.364417	0	0	1	0	0	intergenic	intergenic	downstream	MIR8062(dist=460011),HAO1(dist=51281)	Metazoa_SRP(dist=197852),HAO1(dist=51281)	ENSG00000215586	Na	Na	Na	Na	Na	Na	Het;T>C	592;24|28	Hom;T>C	1184;0|45
N	N	-	20	7848195	7848195	A	G	snp	intergenic	 	 	 	 	AL031679.1																		rs6086259	0.483826	0	0	1	0	0	intergenic	intergenic	intergenic	MIR8062(dist=495856),HAO1(dist=15436)	Metazoa_SRP(dist=233697),HAO1(dist=15436)	ENSG00000215586(dist=35226),ENSG00000101323(dist=15433)	Na	Na	Na	Na	Na	Na	Het;A>G	158;7|8	Hom;A>G	71;0|4
N	N	-	20	7887025	7887025	G	C	snp	intronic	 	 	 	 	HAO1	Hao1	ENSG00000101323	hydroxyacid oxidase 1	chr20:7863628-7921121	This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; Acute lymphoblastic leukemia 	Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129.	Glyoxylate metabolism and glycine degradation	GO:0001561;fatty acid alpha-oxidation;IDA|GO:0006979;response to oxidative stress;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046296;glycolate catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0008891;glycolate oxidase activity;TAS|GO:0010181;FMN binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0047969;glyoxylate oxidase activity;TAS|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;IEA|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO1	https://www.uniprot.org/uniprot/Q9UJM8		https://www.ncbi.nlm.nih.gov/omim/?term=605023	http://www.informatics.jax.org/searchtool/Search.do?query=HAO1&submit=Quick%0D%2707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO1	rs6055387	0.685903	0.4852	0.5007	1	0	0	intronic	intronic	intronic	HAO1	HAO1	ENSG00000101323	Na	Na	Na	Na	Na	Na	Het;G>C	469;12|19	Hom;G>C	602;0|20
N	N	-	20	7893640	7893640	A	G	snp	intronic	 	 	 	 	HAO1	Hao1	ENSG00000101323	hydroxyacid oxidase 1	chr20:7863628-7921121	This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; Acute lymphoblastic leukemia 	Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129.	Glyoxylate metabolism and glycine degradation	GO:0001561;fatty acid alpha-oxidation;IDA|GO:0006979;response to oxidative stress;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046296;glycolate catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0008891;glycolate oxidase activity;TAS|GO:0010181;FMN binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0047969;glyoxylate oxidase activity;TAS|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;IEA|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO1	https://www.uniprot.org/uniprot/Q9UJM8		https://www.ncbi.nlm.nih.gov/omim/?term=605023	http://www.informatics.jax.org/searchtool/Search.do?query=HAO1&submit=Quick%0D%2707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO1	rs2423326	0.351438	0	0	1	0	0	intronic	intronic	intronic	HAO1	HAO1	ENSG00000101323	Na	Na	Na	Na	Na	Na	Het;A>G	531;25|26	Hom;A>G	729;0|28
N	N	-	20	7893736	7893736	T	G	snp	intronic	 	 	 	 	HAO1	Hao1	ENSG00000101323	hydroxyacid oxidase 1	chr20:7863628-7921121	This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; Acute lymphoblastic leukemia 	Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129.	Glyoxylate metabolism and glycine degradation	GO:0001561;fatty acid alpha-oxidation;IDA|GO:0006979;response to oxidative stress;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046296;glycolate catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0008891;glycolate oxidase activity;TAS|GO:0010181;FMN binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0047969;glyoxylate oxidase activity;TAS|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;IEA|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO1	https://www.uniprot.org/uniprot/Q9UJM8		https://www.ncbi.nlm.nih.gov/omim/?term=605023	http://www.informatics.jax.org/searchtool/Search.do?query=HAO1&submit=Quick%0D%2707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO1	rs12625244	0.185304	0	0	1	0	0	intronic	intronic	intronic	HAO1	HAO1	ENSG00000101323	Na	Na	Na	Na	Na	Na	Het;T>G	92;12|6	Hom;T>G	375;0|14
N	N	-	20	7909142	7909143	CT	C	indel	intronic	 	 	 	 	HAO1	Hao1	ENSG00000101323	hydroxyacid oxidase 1	chr20:7863628-7921121	This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; Acute lymphoblastic leukemia 	Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129.	Glyoxylate metabolism and glycine degradation	GO:0001561;fatty acid alpha-oxidation;IDA|GO:0006979;response to oxidative stress;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046296;glycolate catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0003973;(S)-2-hydroxy-acid oxidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0008891;glycolate oxidase activity;TAS|GO:0010181;FMN binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0047969;glyoxylate oxidase activity;TAS|GO:0052852;very-long-chain-(S)-2-hydroxy-acid oxidase activity;IEA|GO:0052853;long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity;IEA|GO:0052854;medium-chain-(S)-2-hydroxy-acid oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAO1	https://www.uniprot.org/uniprot/Q9UJM8		https://www.ncbi.nlm.nih.gov/omim/?term=605023	http://www.informatics.jax.org/searchtool/Search.do?query=HAO1&submit=Quick%0D%2707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAO1	rs35798481	0	0	0	1	0	0	intronic	intronic	intronic	HAO1	HAO1	ENSG00000101323	Na	Na	Na	Na	Na	Na	Het;-T	298;16|24	Hom;-T	289;0|13
N	N	-	20	9487033	9487033	C	A	snp	ncRNA_intronic	 	 	 	 	LAMP5-AS1																		rs6056656	0.545727	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LAMP5-AS1	PLCB4(dist=25571),LAMP5(dist=7972)	ENSG00000225988	Na	Na	Na	Na	Na	Na	Het;C>A	648;15|27	Hom;C>A	1559;0|58
N	N	-	20	9874495	9874495	C	T	snp	intergenic	 	 	 	 	PAK5																		rs6056980	0	0	0	1	0	0	intergenic	intergenic	intergenic	PAK7(dist=54808),LOC101929371(dist=92486)	PAK7(dist=54808),SNAP25-AS1(dist=129965)	ENSG00000101349(dist=54806),ENSG00000243961(dist=92241)	Na	Na	Na	Na	Na	Na	Het;C>T	40;11|4	Hom;C>T	204;0|10
N	N	-	21	10702343	10702343	G	A	snp	intergenic	 	 	 	 	CR382285.1																		rs28871075	0	0	0	1	0	0	intergenic	intergenic	intergenic	TEKT4P2(dist=733749),TPTE(dist=203844)	AK311573(dist=104901),TPTE(dist=204400)	ENSG00000270533(dist=226282),ENSG00000169861(dist=160279)	Na	Na	Na	Na	Na	Na	Het;G>A	176;2|5	Hom;G>A	377;0|9
N	N	-	21	10702363	10702363	C	G	snp	intergenic	 	 	 	 	CR382285.1																		rs28827310	0	0	0	1	0	0	intergenic	intergenic	intergenic	TEKT4P2(dist=733769),TPTE(dist=203824)	AK311573(dist=104921),TPTE(dist=204380)	ENSG00000270533(dist=226302),ENSG00000169861(dist=160259)	Na	Na	Na	Na	Na	Na	Het;C>G	134;2|4	Hom;C>G	377;0|9
N	N	-	21	10898210	10898210	A	C	snp	upstream	 	 	 	 	ENSG00000223925																		rs28621728	0.649161	0	0	1	0	0	intergenic	intergenic	upstream	TEKT4P2(dist=929616),TPTE(dist=7977)	AK311573(dist=300768),TPTE(dist=8533)	ENSG00000223925	Na	Na	Na	Na	Na	Na	Het;A>C	39;1|2	Hom;A>C	170;0|5
N	N	-	21	11097830	11097830	A	C	snp	ncRNA_intronic	 	 	 	 	BAGE2																		rs77330564	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	BAGE,BAGE2,BAGE3,BAGE4,BAGE5	BAGE,BAGE3	ENSG00000187172	Na	Na	Na	Na	Na	Na	Het;A>C	543;1|13	Hom;A>C	751;1|15
N	N	-	21	11097831	11097831	G	C	snp	ncRNA_intronic	 	 	 	 	BAGE2																		rs78866140	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	BAGE,BAGE2,BAGE3,BAGE4,BAGE5	BAGE,BAGE3	ENSG00000187172	Na	Na	Na	Na	Na	Na	Het;G>C	543;1|13	Hom;G>C	719;1|15
N	N	-	21	11124187	11124187	C	T	snp	intergenic	 	 	 	 	BAGE2																		rs12626566	0.593051	0	0	1	0	0	intergenic	intergenic	intergenic	BAGE(dist=25250),NONE(dist=NONE)	BAGE3(dist=25250),NONE(dist=NONE)	ENSG00000187172(dist=25207),ENSG00000231962(dist=29650)	Na	Na	Na	Na	Na	Na	Het;C>T	293;6|10	Hom;C>T	522;0|14
N	N	-	21	11154412	11154412	A	G	snp	ncRNA_exonic	 	 	 	 	ENSG00000231962																		rs3879425	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BAGE(dist=55475),NONE(dist=NONE)	BAGE3(dist=55475),NONE(dist=NONE)	ENSG00000231962	Na	Na	Na	Na	Na	Na	Het;A>G	84;4|5	Hom;A>G	120;0|6
N	N	-	21	15289026	15289026	T	A	snp	ncRNA_intronic	 	 	 	 	ANKRD20A11P																		rs438579	0.70647	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CYP4F29P(dist=68341),ANKRD20A11P(dist=27070)	DQ579969(dist=8801),ANKRD20A11P(dist=27070)	ENSG00000215559	Na	Na	Na	Na	Na	Na	Het;T>A	51;11|4	Hom;T>A	446;1|15
N	N	-	21	15297624	15297624	C	T	snp	ncRNA_intronic	 	 	 	 	ANKRD20A11P																		rs394632	0.703874	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CYP4F29P(dist=76939),ANKRD20A11P(dist=18472)	DQ579969(dist=17399),ANKRD20A11P(dist=18472)	ENSG00000215559	Na	Na	Na	Na	Na	Na	Het;C>T	308;21|16	Hom;C>T	1622;0|61
N	N	-	21	15306301	15306301	G	A	snp	ncRNA_exonic	 	 	 	 	ANKRD20A11P																		rs403540	0.58147	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CYP4F29P(dist=85616),ANKRD20A11P(dist=9795)	DQ579969(dist=26076),ANKRD20A11P(dist=9795)	ENSG00000215559	Na	Na	Na	Na	Na	Na	Het;G>A	1433;44|66	Hom;G>A	3891;0|143
N	N	-	21	15306573	15306573	C	CT	indel	ncRNA_intronic	 	 	 	 	ANKRD20A11P																		rs35851520	0.394369	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CYP4F29P(dist=85888),ANKRD20A11P(dist=9523)	DQ579969(dist=26348),ANKRD20A11P(dist=9523)	ENSG00000215559	Na	Na	Na	Na	Na	Na	Het;+T	112;14|8	Hom;+T	523;2|23
N	N	-	21	15310354	15310354	G	A	snp	ncRNA_exonic	 	 	 	 	ANKRD20A11P																		rs432543	0.779752	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CYP4F29P(dist=89669),ANKRD20A11P(dist=5742)	DQ579969(dist=30129),ANKRD20A11P(dist=5742)	ENSG00000215559	Na	Na	Na	Na	Na	Na	Het;G>A	354;37|19	Hom;G>A	899;0|32
N	N	-	21	15326329	15326329	T	G	snp	ncRNA_intronic	 	 	 	 	ANKRD20A11P																		rs381239	0.764776	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ANKRD20A11P	ANKRD20A11P	ENSG00000215559	Na	Na	Na	Na	Na	Na	Het;T>G	606;43|30	Hom;T>G	2492;0|82
N	N	-	21	15333206	15333206	C	T	snp	ncRNA_intronic	 	 	 	 	ANKRD20A11P																		rs413639	0.746605	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ANKRD20A11P	ANKRD20A11P	ENSG00000215559	Na	Na	Na	Na	Na	Na	Het;C>T	271;7|14	Hom;C>T	593;0|22
N	N	-	21	15588775	15588775	G	A	snp	intronic	 	 	 	 	RBM11	Rbm11	ENSG00000185272	RNA binding motif protein 11	chr21:15588451-15600693			 		GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IDA|GO:0006397;mRNA processing;IEA|GO:0007275;multicellular organism development;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RBM11				http://www.informatics.jax.org/searchtool/Search.do?query=RBM11&submit=Quick%0D%15383ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM11	rs56113127	0.385383	0	0	1	0	0	intronic	intronic	intronic	RBM11	RBM11	ENSG00000185272	Na	Na	Na	Na	Na	Na	Het;G>A	92;5|4	Hom;G>A	177;0|7
N	N	-	21	15672510	15672510	C	T	snp	ncRNA_exonic	 	 	 	 	ABCC13																		rs1153313	0.603035	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ABCC13	ABCC13(uc002yjr.3:c.*524C>T,uc010gkx.3:c.*524C>T)	ENSG00000243064	Na	Na	Na	Na	Na	Na	Het;C>T	1611;88|75	Hom;C>T	4265;1|159
N	N	-	21	15673444	15673444	C	A	snp	ncRNA_exonic	 	 	 	 	ABCC13																		rs1014266	0.601637	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ABCC13	ABCC13(uc002yjr.3:c.*1458C>A,uc010gkx.3:c.*1458C>A)	ENSG00000243064	Na	Na	Na	Na	Na	Na	Het;C>A	124;12|7	Hom;C>A	979;0|37
N	N	-	21	15918714	15918714	A	G	snp	intronic	 	 	 	 	SAMSN1	Samsn1	ENSG00000155307	SAM domain, SH3 domain and nuclear localization signals 1	chr21:15857549-15955723	SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]	Blood Pressure; Tobacco Use Disorder; Body Weight; Breath Tests; Urinalysis; Body Height; Calcium; Body Mass Index	Mice homozygous for a knock-out allele exhibit enhanced adaptive immunity.		GO:0002820;negative regulation of adaptive immune response;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050869;negative regulation of B cell activation;ISS	GO:0001726;ruffle;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0042995;cell projection;IEA	GO:0001784;phosphotyrosine binding;IDA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SAMSN1	https://www.uniprot.org/uniprot/Q9NSI8		https://www.ncbi.nlm.nih.gov/omim/?term=607978	http://www.informatics.jax.org/searchtool/Search.do?query=SAMSN1&submit=Quick%0D%9858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMSN1	rs12329657	0.600839	0	0	1	0	0	intronic	intronic	intronic	SAMSN1	SAMSN1	ENSG00000155307	Na	Na	Na	Na	Na	Na	Het;A>G	111;3|4	Hom;A>G	362;0|10
N	N	-	21	16015250	16015250	A	G	snp	intronic	 	 	 	 	LOC388813																		rs458292	0.74361	0	0	1	0	0	intronic	intronic	intronic	LOC388813	LOC388813	ENSG00000243440	Na	Na	Na	Na	Na	Na	Het;A>G	186;11|9	Hom;A>G	588;0|18
N	N	-	21	16890487	16890487	A	AT	indel	intergenic	 	 	 	 	AJ009632.1																		rs556900897	0.00239617	0	0	1	0	0	intergenic	intergenic	intergenic	NRIP1(dist=453361),USP25(dist=211857)	NRIP1(dist=452256),USP25(dist=212009)	ENSG00000224247(dist=22044),ENSG00000212564(dist=96115)	Na	Na	Na	Na	Na	Na	Het;+T	138;10|5	Hom;+T	93;0|3
N	N	-	21	16890549	16890549	T	C	snp	intergenic	 	 	 	 	AJ009632.1																		rs73892642	0.224441	0	0	1	0	0	intergenic	intergenic	intergenic	NRIP1(dist=453423),USP25(dist=211795)	NRIP1(dist=452318),USP25(dist=211947)	ENSG00000224247(dist=22106),ENSG00000212564(dist=96053)	Na	Na	Na	Na	Na	Na	Het;T>C	830;31|38	Hom;T>C	1389;2|51
N	N	-	21	16890734	16890734	A	G	snp	intergenic	 	 	 	 	AJ009632.1																		rs6650846	0.224641	0	0	1	0	0	intergenic	intergenic	intergenic	NRIP1(dist=453608),USP25(dist=211610)	NRIP1(dist=452503),USP25(dist=211762)	ENSG00000224247(dist=22291),ENSG00000212564(dist=95868)	Na	Na	Na	Na	Na	Na	Het;A>G	195;1|6	Hom;A>G	177;0|5
N	N	-	21	18153882	18153882	T	C	snp	ncRNA_intronic	 	 	 	 	AF130359.1																		rs2026855	0.545727	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR99AHG(dist=171788),LINC01549(dist=657326)	LINC00478(dist=171788),C21orf37(dist=657326)	ENSG00000237735	Na	Na	Na	Na	Na	Na	Het;T>C	427;45|25	Hom;T>C	2800;0|103
N	N	-	21	18932934	18932934	T	A	snp	intronic	 	 	 	 	CXADR	Cxadr	ENSG00000154639	CXADR, Ig-like cell adhesion molecule	chr21:18884700-18965897	The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]	Tobacco Use Disorder; Cardiomyopathy, Dilated|Coxsackievirus Infections; Anterior Wall Myocardial Infarction|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Disease Susceptibility|Heart Arrest|Myocardial Infarction|Sudden Cardiac Death|Ventricular Fibrillation; adenoviral infection and decreased lung function	Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging.	Cell surface interactions at the vascular wall	GO:0007005;mitochondrion organization;ISS|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0007507;heart development;ISS|GO:0008354;germ cell migration;ISS|GO:0010669;epithelial structure maintenance;IMP|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0045216;cell-cell junction organization;ISS|GO:0046629;gamma-delta T cell activation;ISS|GO:0046718;viral entry into host cell;IEA|GO:0048739;cardiac muscle fiber development;ISS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0070633;transepithelial transport;IMP|GO:0086067;AV node cell to bundle of His cell communication;ISS|GO:0086072;AV node cell-bundle of His cell adhesion involved in cell communication;ISS|GO:0098904;regulation of AV node cell action potential;ISS	GO:0001669;acrosomal vesicle;ISS|GO:0005576;extracellular region;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0030175;filopodium;ISS|GO:0030426;growth cone;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;IDA|GO:0044297;cell body;ISS|GO:0045121;membrane raft;IDA	GO:0001618;virus receptor activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0050839;cell adhesion molecule binding;IPI|GO:0071253;connexin binding;ISS|GO:0086082;cell adhesive protein binding involved in AV node cell-bundle of His cell communication;IC	http://www.genecards.org/index.php?path=/Search/keyword/CXADR	https://www.uniprot.org/uniprot/P78310		https://www.ncbi.nlm.nih.gov/omim/?term=602621	http://www.informatics.jax.org/searchtool/Search.do?query=CXADR&submit=Quick%0D%9788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXADR	rs979190	0.644369	0	0	1	0	0	intronic	intronic	intronic	CXADR	CXADR	ENSG00000154639	Na	Na	Na	Na	Na	Na	Het;T>A	177;13|11	Hom;T>A	790;0|27
N	N	-	21	18933561	18933561	C	CAT	indel	intronic	 	 	 	 	CXADR	Cxadr	ENSG00000154639	CXADR, Ig-like cell adhesion molecule	chr21:18884700-18965897	The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]	Tobacco Use Disorder; Cardiomyopathy, Dilated|Coxsackievirus Infections; Anterior Wall Myocardial Infarction|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Disease Susceptibility|Heart Arrest|Myocardial Infarction|Sudden Cardiac Death|Ventricular Fibrillation; adenoviral infection and decreased lung function	Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging.	Cell surface interactions at the vascular wall	GO:0007005;mitochondrion organization;ISS|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0007507;heart development;ISS|GO:0008354;germ cell migration;ISS|GO:0010669;epithelial structure maintenance;IMP|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0045216;cell-cell junction organization;ISS|GO:0046629;gamma-delta T cell activation;ISS|GO:0046718;viral entry into host cell;IEA|GO:0048739;cardiac muscle fiber development;ISS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0070633;transepithelial transport;IMP|GO:0086067;AV node cell to bundle of His cell communication;ISS|GO:0086072;AV node cell-bundle of His cell adhesion involved in cell communication;ISS|GO:0098904;regulation of AV node cell action potential;ISS	GO:0001669;acrosomal vesicle;ISS|GO:0005576;extracellular region;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0030175;filopodium;ISS|GO:0030426;growth cone;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;IDA|GO:0044297;cell body;ISS|GO:0045121;membrane raft;IDA	GO:0001618;virus receptor activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0050839;cell adhesion molecule binding;IPI|GO:0071253;connexin binding;ISS|GO:0086082;cell adhesive protein binding involved in AV node cell-bundle of His cell communication;IC	http://www.genecards.org/index.php?path=/Search/keyword/CXADR	https://www.uniprot.org/uniprot/P78310		https://www.ncbi.nlm.nih.gov/omim/?term=602621	http://www.informatics.jax.org/searchtool/Search.do?query=CXADR&submit=Quick%0D%9788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXADR	rs56962067	0.937899	0	0	1	0	0	intronic	intronic	intronic	CXADR	CXADR	ENSG00000154639	Na	Na	Na	Na	Na	Na	Het;+AT	96;8|4	Hom;+AT	500;0|11
N	N	-	21	18938176	18938176	G	A	snp	UTR3	*166G>A	 	 	 	CXADR	Cxadr	ENSG00000154639	CXADR, Ig-like cell adhesion molecule	chr21:18884700-18965897	The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]	Tobacco Use Disorder; Cardiomyopathy, Dilated|Coxsackievirus Infections; Anterior Wall Myocardial Infarction|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Disease Susceptibility|Heart Arrest|Myocardial Infarction|Sudden Cardiac Death|Ventricular Fibrillation; adenoviral infection and decreased lung function	Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging.	Cell surface interactions at the vascular wall	GO:0007005;mitochondrion organization;ISS|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0007507;heart development;ISS|GO:0008354;germ cell migration;ISS|GO:0010669;epithelial structure maintenance;IMP|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0045216;cell-cell junction organization;ISS|GO:0046629;gamma-delta T cell activation;ISS|GO:0046718;viral entry into host cell;IEA|GO:0048739;cardiac muscle fiber development;ISS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0070633;transepithelial transport;IMP|GO:0086067;AV node cell to bundle of His cell communication;ISS|GO:0086072;AV node cell-bundle of His cell adhesion involved in cell communication;ISS|GO:0098904;regulation of AV node cell action potential;ISS	GO:0001669;acrosomal vesicle;ISS|GO:0005576;extracellular region;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0030175;filopodium;ISS|GO:0030426;growth cone;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;IDA|GO:0044297;cell body;ISS|GO:0045121;membrane raft;IDA	GO:0001618;virus receptor activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0050839;cell adhesion molecule binding;IPI|GO:0071253;connexin binding;ISS|GO:0086082;cell adhesive protein binding involved in AV node cell-bundle of His cell communication;IC	http://www.genecards.org/index.php?path=/Search/keyword/CXADR	https://www.uniprot.org/uniprot/P78310		https://www.ncbi.nlm.nih.gov/omim/?term=602621	http://www.informatics.jax.org/searchtool/Search.do?query=CXADR&submit=Quick%0D%9788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXADR	rs2245943	0.436701	0	0	1	0	0	UTR3	UTR3	UTR3	CXADR(NM_001207065:c.*371G>A,NM_001207064:c.*243G>A,NM_001207063:c.*243G>A,NM_001338:c.*166G>A)	CXADR(uc002yki.3:c.*166G>A,uc002ykh.2:c.*243G>A,uc010gld.2:c.*243G>A,uc010gle.2:c.*371G>A,uc021whp.1:c.*166G>A)	ENSG00000154639(ENST00000284878:c.*166G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	365;10|13	Hom;G>A	454;0|15
N	N	-	21	19159523	19159523	A	G	snp	ncRNA_exonic	 	 	 	 	C21orf91-OT1																		rs243599	0.53155	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	C21orf91-OT1	C21orf91-OT1	ENSG00000240770	Na	Na	Na	Na	Na	Na	Het;A>G	742;31|36	Hom;A>G	2188;0|76
N	N	-	21	19190427	19190427	C	T	snp	intronic	 	 	 	 	C21orf91	D16Ertd472e	ENSG00000154642	chromosome 21 open reading frame 91	chr21:19161284-19191703			 					http://www.genecards.org/index.php?path=/Search/keyword/C21orf91	https://www.uniprot.org/uniprot/Q9NYK6			http://www.informatics.jax.org/searchtool/Search.do?query=C21orf91&submit=Quick%0D%9790ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C21orf91	rs243556	0.876797	0	0	1	0	0	intronic	intronic	intronic	C21orf91	C21orf91	ENSG00000154642	Na	Na	Na	Na	Na	Na	Het;C>T	433;13|18	Hom;C>T	1160;0|38
N	N	-	21	19701421	19701423	GCT	G	indel	intronic	 	 	 	 	TMPRSS15	Tmprss15	ENSG00000154646	transmembrane protease, serine 15	chr21:19641433-19858197	This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]	Creatinine; CD40 Ligand; Alcoholism; Cholesterol, HDL; Electrocardiography; Cholesterol; Waist-Hip Ratio; Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;IEA	GO:0005903;brush border;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS15	https://www.uniprot.org/uniprot/P98073	https://hpo.jax.org/app/browse/search?q=TMPRSS15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606635	http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS15&submit=Quick%0D%9792ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS15	rs3077993	0.357228	0	0	1	0	0	intronic	intronic	intronic	TMPRSS15	TMPRSS15	ENSG00000154646	Na	Na	Na	Na	Na	Na	Het;-CT	553;15|17	Hom;-CT	1418;0|33
N	N	-	21	20230102	20230102	C	T	snp	ncRNA_exonic	 	 	 	 	PPIAP22																		rs2825212	0.276358	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101927797(dist=97972),LINC00320(dist=1884806)	BC051441(dist=97972),LINC00320(dist=1884811)	ENSG00000198618	Na	Na	Na	Na	Na	Na	Het;C>T	130;2|7	Hom;C>T	120;0|6
N	N	-	21	21060179	21060179	T	A	snp	intergenic	 	 	 	 	AP000403.1																		rs2825748	0.606629	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927797(dist=928049),LINC00320(dist=1054729)	BC051441(dist=928049),LINC00320(dist=1054734)	ENSG00000271486(dist=66320),ENSG00000229336(dist=51844)	Na	Na	Na	Na	Na	Na	Het;T>A	155;17|11	Hom;T>A	704;0|28
N	N	-	21	21560492	21560492	C	T	snp	intergenic	 	 	 	 	LINC01683																		rs2826067	0.884784	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927797(dist=1428362),LINC00320(dist=554416)	BC051441(dist=1428362),LINC00320(dist=554421)	ENSG00000233480(dist=288423),ENSG00000233236(dist=68573)	Na	Na	Na	Na	Na	Na	Het;C>T	219;16|13	Hom;C>T	803;0|31
N	N	-	21	21809639	21809639	A	C	snp	intergenic	 	 	 	 	RPS3AP1																		rs1613101	0.411542	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927797(dist=1677509),LINC00320(dist=305269)	BC051441(dist=1677509),LINC00320(dist=305274)	ENSG00000233206(dist=6565),ENSG00000224924(dist=305269)	Na	Na	Na	Na	Na	Na	Het;A>C	513;30|27	Hom;A>C	985;0|38
N	N	-	21	22696837	22696837	C	G	snp	intronic	 	 	 	 	NCAM2	Ncam2	ENSG00000154654	neural cell adhesion molecule 2	chr21:22370633-22915650	The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008]	Hypertrophy, Left Ventricular; Amyotrophic Lateral Sclerosis; Obesity; Triglycerides; Lipids; Alcoholism; Hemoglobins; Metabolism; Alzheimer Disease|Alzheimer's Disease; Tobacco Use Disorder; Erythrocyte Count; Macular Degeneration; Longevity; several psychiatric disorders; Glucose	A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit exhibit increased proliferation rate and clonogenic frequency in spinal cord-derived neurospheres.		GO:0007155;cell adhesion;IEA|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007413;axonal fasciculation;IEA|GO:0007608;sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016604;nuclear body;IDA|GO:0030424;axon;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NCAM2	https://www.uniprot.org/uniprot/O15394		https://www.ncbi.nlm.nih.gov/omim/?term=602040	http://www.informatics.jax.org/searchtool/Search.do?query=NCAM2&submit=Quick%0D%9793ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAM2	rs232467	0.621006	0.7096	0.7073	1	0	0	intronic	intronic	intronic	NCAM2	NCAM2	ENSG00000154654	Na	Na	Na	Na	Na	Na	Het;C>G	702;59|37	Hom;C>G	2484;0|85
N	N	-	21	23099210	23099210	C	T	snp	ncRNA_intronic	 	 	 	 	LINC00317																		rs2826971	0.464457	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00317	LINC00317	ENSG00000238265	Na	Na	Na	Na	Na	Na	Het;C>T	127;2|5	Hom;C>T	76;0|3
N	N	-	21	24388786	24388786	T	C	snp	intergenic	 	 	 	 	AP000949.1																		rs2827793	0.281949	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00308(dist=899939),D21S2088E(dist=344640)	Z49979(dist=848052),D21S2088E(dist=344640)	ENSG00000225906(dist=132465),ENSG00000230972(dist=49027)	Na	Na	Na	Na	Na	Na	Het;T>C	515;22|24	Hom;T>C	1114;0|39
N	N	-	21	24780690	24780690	A	G	snp	ncRNA_intronic	 	 	 	 	TUBAP																		rs1041752	0.291933	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	D21S2088E(dist=23534),LOC101927869(dist=896173)	D21S2088E(dist=23534),AK124194(dist=1020364)	ENSG00000237569	Na	Na	Na	Na	Na	Na	Het;A>G	43;2|3	Hom;A>G	314;0|10
N	N	-	21	24795540	24795540	G	A	snp	intergenic	 	 	 	 	TUBAP																		rs2174337	0.278954	0	0	1	0	0	intergenic	intergenic	intergenic	D21S2088E(dist=38384),LOC101927869(dist=881323)	D21S2088E(dist=38384),AK124194(dist=1005514)	ENSG00000237569(dist=14092),ENSG00000199698(dist=8961)	Na	Na	Na	Na	Na	Na	Het;G>A	419;20|23	Hom;G>A	1928;0|75
N	N	-	21	25195496	25195496	A	G	snp	intergenic	 	 	 	 	AP000459.1																		rs207460	0.451278	0	0	1	0	0	intergenic	intergenic	intergenic	D21S2088E(dist=438340),LOC101927869(dist=481367)	D21S2088E(dist=438340),AK124194(dist=605558)	ENSG00000227716(dist=332453),ENSG00000231986(dist=65618)	Na	Na	Na	Na	Na	Na	Het;A>G	751;50|36	Hom;A>G	2627;2|100
N	N	-	21	25743396	25743396	T	C	snp	intergenic	 	 	 	 	LINC01689																		rs2211959	0.665136	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927869(dist=49706),LOC339622(dist=469468)	D21S2088E(dist=986240),AK124194(dist=57658)	ENSG00000224832(dist=49706),ENSG00000237484(dist=57658)	Na	Na	Na	Na	Na	Na	Het;T>C	103;9|6	Hom;T>C	211;0|9
N	N	-	21	26070148	26070149	TG	T	indel	intergenic	 	 	 	 	LINC01684																		rs35442705	0.540136	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927869(dist=376458),LOC339622(dist=142715)	AK124194(dist=207527),LOC339622(dist=142715)	ENSG00000237484(dist=149892),ENSG00000226983(dist=142715)	Na	Na	Na	Na	Na	Na	Het;-G	42;6|3	Hom;-G	607;0|18
N	N	-	21	26070229	26070229	T	C	snp	intergenic	 	 	 	 	LINC01684																		rs2829272	0.540335	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927869(dist=376539),LOC339622(dist=142635)	AK124194(dist=207608),LOC339622(dist=142635)	ENSG00000237484(dist=149973),ENSG00000226983(dist=142635)	Na	Na	Na	Na	Na	Na	Het;T>C	392;42|23	Hom;T>C	1965;0|73
N	N	-	21	26402111	26402111	C	T	snp	ncRNA_exonic	 	 	 	 	LOC339622																		rs4283495	0.700879	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC339622	LOC339622	ENSG00000226983	Na	Na	Na	Na	Na	Na	Het;C>T	546;41|30	Hom;C>T	2028;0|80
N	N	-	21	26797010	26797010	A	T	snp	ncRNA_exonic	 	 	 	 	LINC00158																		rs2829745	0.301717	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00158	LINC00158	ENSG00000185433	Na	Na	Na	Na	Na	Na	Het;A>T	146;9|9	Hom;A>T	781;0|29
N	N	-	21	26803851	26803852	CA	C	indel	ncRNA_exonic	 	 	 	 	LINC00158																		rs11298305	0.332867	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00158	LINC00158	ENSG00000185433	Na	Na	Na	Na	Na	Na	Het;-A	887;39|51	Hom;-A	1409;2|68
N	N	-	21	26955000	26955000	A	T	snp	downstream	 	 	 	 	AP000223.1																		rs2244498	0.438299	0	0	1	0	0	downstream	downstream	downstream	LINC00515	LINC00515	ENSG00000260583	Na	Na	Na	Na	Na	Na	Het;A>T	340;13|17	Hom;A>T	371;0|14
N	N	-	21	26960189	26960189	T	G	snp	intronic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs2829806	0.445687	0	0	1	0	0	intronic	intronic	intronic	MRPL39	MRPL39	ENSG00000154719	Na	Na	Na	Na	Na	Na	Het;T>G	182;4|6	Hom;T>G	91;0|3
N	N	-	21	26961086	26961086	T	C	snp	intronic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs2829807	0.445487	0.6694	0	1	0	0	intronic	intronic	intronic	MRPL39	MRPL39	ENSG00000154719	Na	Na	Na	Na	Na	Na	Het;T>C	435;13|18	Hom;T>C	492;0|18
N	N	-	21	26965100	26965100	C	A	snp	intronic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs2829809	0.600439	0.7299	0.7195	1	0	0	intronic	intronic	intronic	MRPL39	MRPL39	ENSG00000154719	Na	Na	Na	Na	Na	Na	Het;C>A	576;33|26	Hom;C>A	1172;1|41
N	N	-	21	26965148	26965148	G	A	snp	synonymous SNV	C897T	G299G	aliphatic,neutral	aliphatic,neutral	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs1135638	0.732428	0.8010	0.7728	1	0	0	exonic	exonic	exonic	MRPL39	MRPL39	ENSG00000154719	synonymous SNV	synonymous SNV	unknown	MRPL39:NM_080794:exon8:c.C897T:p.G299G,MRPL39:NM_017446:exon8:c.C897T:p.G299G,	MRPL39:uc002yln.3:exon8:c.C897T:p.G299G,MRPL39:uc002ylo.3:exon8:c.C897T:p.G299G,	UNKNOWN	Het;G>A	1106;65|56	Hom;G>A	2098;0|78
N	N	-	21	26965205	26965205	T	C	snp	synonymous SNV	A840G	V280V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs1057885	0.732428	0.8011	0.7729	1	0	0	exonic	exonic	exonic	MRPL39	MRPL39	ENSG00000154719	synonymous SNV	synonymous SNV	unknown	MRPL39:NM_080794:exon8:c.A840G:p.V280V,MRPL39:NM_017446:exon8:c.A840G:p.V280V,	MRPL39:uc002yln.3:exon8:c.A840G:p.V280V,MRPL39:uc002ylo.3:exon8:c.A840G:p.V280V,	UNKNOWN	Het;T>C	1281;71|61	Hom;T>C	3015;0|111
N	N	-	21	26966317	26966317	A	G	snp	intronic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs13048408	0.419329	0.6334	0.6085	1	0	0	intronic	intronic	intronic	MRPL39	MRPL39	ENSG00000154719	Na	Na	Na	Na	Na	Na	Het;A>G	770;35|32	Hom;A>G	1750;0|59
N	N	-	21	26969703	26969703	T	C	snp	synonymous SNV	A612G	K204K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs1135618	0.732827	0.8025	0.7817	1	0	0	exonic	exonic	exonic	MRPL39	MRPL39	ENSG00000154719	synonymous SNV	synonymous SNV	unknown	MRPL39:NM_080794:exon6:c.A612G:p.K204K,MRPL39:NM_017446:exon6:c.A612G:p.K204K,	MRPL39:uc002yln.3:exon6:c.A612G:p.K204K,MRPL39:uc002ylo.3:exon6:c.A612G:p.K204K,	UNKNOWN	Het;T>C	46;14|3	Hom;T>C	572;0|20
N	N	-	21	26973663	26973663	A	ATATACT	indel	intronic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs140202502	0.732628	0	0.7734	1	0	0	intronic	intronic	intronic	MRPL39	MRPL39	ENSG00000154719	Na	Na	Na	Na	Na	Na	Het;+TATACT	2106;41|54	Hom;+TATACT	3005;0|64
N	N	-	21	26976250	26976250	A	G	snp	intronic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs7278164	0.451278	0.6656	0.6169	1	0	0	intronic	intronic	intronic	MRPL39	MRPL39	ENSG00000154719	Na	Na	Na	Na	Na	Na	Het;A>G	788;38|42	Hom;A>G	2097;0|82
N	N	-	21	26979628	26979628	G	A	snp	intronic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs9653688	0.418131	0	0	1	0	0	intronic	intronic	intronic	MRPL39	MRPL39	ENSG00000154719	Na	Na	Na	Na	Na	Na	Het;G>A	670;31|27	Hom;G>A	720;0|25
N	N	-	21	26987261	26987261	C	T	snp	intergenic	 	 	 	 	MRPL39	Mrpl39	ENSG00000154719	mitochondrial ribosomal protein L39	chr21:26957968-26979829	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance	 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL39	https://www.uniprot.org/uniprot/Q9NYK5		https://www.ncbi.nlm.nih.gov/omim/?term=611845	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL39&submit=Quick%0D%9797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL39	rs7280370	0.621406	0	0	1	0	0	intergenic	intergenic	intergenic	MRPL39(dist=7460),JAM2(dist=24333)	MRPL39(dist=7460),JAM2(dist=24333)	ENSG00000154719(dist=7432),ENSG00000154721(dist=24323)	Na	Na	Na	Na	Na	Na	Het;C>T	39;4|3	Hom;C>T	71;0|4
N	N	-	21	27326859	27326859	G	A	snp	intronic	 	 	 	 	APP	App	ENSG00000142192	amyloid beta precursor protein	chr21:27252861-27543446	This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]	Cholesterol, HDL; Arteriosclerosis|Cardiovascular Diseases; Alzheimer's disease; Macular Degeneration; Tobacco Use Disorder; Alzheimers disease; Alzheimer's disease ; Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal; dementia; Type 2 Diabetes| edema | rosiglitazone; cognitive function; Alzheimer's Disease; Aging/ Telomere Length; Alzheimer Disease|Down Syndrome|; Lewy Body Formation; Celiac Disease|; Body Height; cognitive trait; Amyloidosis, Familial|Cerebral Hemorrhage|Cerebral Hemorrhages	Mice homozygous for disruptions in this gene exhibit reduced body weight, brain weight, size of forebrain commissures, locomotor activity, forelimb grip strength, and spatial learning scores. Many mice also exhibit agenesis of the corpus callosum, and extensive reactive gliosis.	Amyloid fiber formation	GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001967;suckling behavior;IEA|GO:0002576;platelet degranulation;TAS|GO:0006378;mRNA polyadenylation;ISS|GO:0006417;regulation of translation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0006878;cellular copper ion homeostasis;ISS|GO:0006897;endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007155;cell adhesion;IEA|GO:0007176;regulation of epidermal growth factor-activated receptor activity;ISS|GO:0007219;Notch signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;ISS|GO:0007611;learning or memory;IGI|GO:0007617;mating behavior;ISS|GO:0007626;locomotory behavior;ISS|GO:0008088;axo-dendritic transport;ISS|GO:0008203;cholesterol metabolic process;IEA|GO:0008344;adult locomotory behavior;ISS|GO:0008542;visual learning;ISS|GO:0009987;cellular process;IMP|GO:0010288;response to lead ion;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0016322;neuron remodeling;ISS|GO:0016358;dendrite development;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030900;forebrain development;IEA|GO:0031175;neuron projection development;ISS|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0040014;regulation of multicellular organism growth;ISS|GO:0043393;regulation of protein binding;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;TAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045931;positive regulation of mitotic cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048167;regulation of synaptic plasticity;IGI|GO:0048669;collateral sprouting in absence of injury;ISS|GO:0050803;regulation of synapse structure or activity;ISS|GO:0050808;synapse organization;IGI|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051247;positive regulation of protein metabolic process;IMP|GO:0051402;neuron apoptotic process;IMP|GO:0051563;smooth endoplasmic reticulum calcium ion homeostasis;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071874;cellular response to norepinephrine stimulus;IEA|GO:0090647;modulation of age-related behavioral decline;TAS|GO:1990000;amyloid fibril formation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000310;regulation of NMDA receptor activity;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005641;nuclear envelope lumen;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0005911;cell-cell junction;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IEA|GO:0030424;axon;ISS|GO:0030426;growth cone;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0035253;ciliary rootlet;IEA|GO:0043005;neuron projection;IEA|GO:0043195;terminal bouton;IEA|GO:0043197;dendritic spine;IDA|GO:0043198;dendritic shaft;IDA|GO:0043235;receptor complex;IDA|GO:0044304;main axon;IEA|GO:0045121;membrane raft;IDA|GO:0045177;apical part of cell;IEA|GO:0045202;synapse;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0051233;spindle midzone;IEA|GO:0070062;extracellular exosome;IDA|GO:0097449;astrocyte projection;IEA|GO:1990761;growth cone lamellipodium;IEA|GO:1990812;growth cone filopodium;IEA	GO:0003677;DNA binding;ISS|GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0016504;peptidase activator activity;IEA|GO:0019899;enzyme binding;IPI|GO:0030414;peptidase inhibitor activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA|GO:0051425;PTB domain binding;IPI|GO:0070851;growth factor receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APP	https://www.uniprot.org/uniprot/P05067	https://hpo.jax.org/app/browse/search?q=APP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104760	http://www.informatics.jax.org/searchtool/Search.do?query=APP&submit=Quick%0D%8261ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APP	rs2829997	0.468251	0.4843	0.6116	1	0	0	intronic	intronic	intronic	APP	APP	ENSG00000142192	Na	Na	Na	Na	Na	Na	Het;G>A	568;14|27	Hom;G>A	1312;0|49
N	N	-	21	27425859	27425859	G	C	snp	intronic	 	 	 	 	APP	App	ENSG00000142192	amyloid beta precursor protein	chr21:27252861-27543446	This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]	Cholesterol, HDL; Arteriosclerosis|Cardiovascular Diseases; Alzheimer's disease; Macular Degeneration; Tobacco Use Disorder; Alzheimers disease; Alzheimer's disease ; Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal; dementia; Type 2 Diabetes| edema | rosiglitazone; cognitive function; Alzheimer's Disease; Aging/ Telomere Length; Alzheimer Disease|Down Syndrome|; Lewy Body Formation; Celiac Disease|; Body Height; cognitive trait; Amyloidosis, Familial|Cerebral Hemorrhage|Cerebral Hemorrhages	Mice homozygous for disruptions in this gene exhibit reduced body weight, brain weight, size of forebrain commissures, locomotor activity, forelimb grip strength, and spatial learning scores. Many mice also exhibit agenesis of the corpus callosum, and extensive reactive gliosis.	Amyloid fiber formation	GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001967;suckling behavior;IEA|GO:0002576;platelet degranulation;TAS|GO:0006378;mRNA polyadenylation;ISS|GO:0006417;regulation of translation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0006878;cellular copper ion homeostasis;ISS|GO:0006897;endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007155;cell adhesion;IEA|GO:0007176;regulation of epidermal growth factor-activated receptor activity;ISS|GO:0007219;Notch signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;ISS|GO:0007611;learning or memory;IGI|GO:0007617;mating behavior;ISS|GO:0007626;locomotory behavior;ISS|GO:0008088;axo-dendritic transport;ISS|GO:0008203;cholesterol metabolic process;IEA|GO:0008344;adult locomotory behavior;ISS|GO:0008542;visual learning;ISS|GO:0009987;cellular process;IMP|GO:0010288;response to lead ion;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0016322;neuron remodeling;ISS|GO:0016358;dendrite development;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030900;forebrain development;IEA|GO:0031175;neuron projection development;ISS|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0040014;regulation of multicellular organism growth;ISS|GO:0043393;regulation of protein binding;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;TAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045931;positive regulation of mitotic cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048167;regulation of synaptic plasticity;IGI|GO:0048669;collateral sprouting in absence of injury;ISS|GO:0050803;regulation of synapse structure or activity;ISS|GO:0050808;synapse organization;IGI|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051247;positive regulation of protein metabolic process;IMP|GO:0051402;neuron apoptotic process;IMP|GO:0051563;smooth endoplasmic reticulum calcium ion homeostasis;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071874;cellular response to norepinephrine stimulus;IEA|GO:0090647;modulation of age-related behavioral decline;TAS|GO:1990000;amyloid fibril formation;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000310;regulation of NMDA receptor activity;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005641;nuclear envelope lumen;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0005911;cell-cell junction;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IEA|GO:0030424;axon;ISS|GO:0030426;growth cone;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0035253;ciliary rootlet;IEA|GO:0043005;neuron projection;IEA|GO:0043195;terminal bouton;IEA|GO:0043197;dendritic spine;IDA|GO:0043198;dendritic shaft;IDA|GO:0043235;receptor complex;IDA|GO:0044304;main axon;IEA|GO:0045121;membrane raft;IDA|GO:0045177;apical part of cell;IEA|GO:0045202;synapse;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0051233;spindle midzone;IEA|GO:0070062;extracellular exosome;IDA|GO:0097449;astrocyte projection;IEA|GO:1990761;growth cone lamellipodium;IEA|GO:1990812;growth cone filopodium;IEA	GO:0003677;DNA binding;ISS|GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0016504;peptidase activator activity;IEA|GO:0019899;enzyme binding;IPI|GO:0030414;peptidase inhibitor activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA|GO:0051425;PTB domain binding;IPI|GO:0070851;growth factor receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APP	https://www.uniprot.org/uniprot/P05067	https://hpo.jax.org/app/browse/search?q=APP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104760	http://www.informatics.jax.org/searchtool/Search.do?query=APP&submit=Quick%0D%8261ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APP	rs2830027	0.208866	0	0	1	0	0	intronic	intronic	intronic	APP	APP	ENSG00000142192	Na	Na	Na	Na	Na	Na	Het;G>C	48;1|2	Hom;G>C	178;0|6
N	N	-	21	27808458	27808458	A	G	snp	ncRNA_intronic	 	 	 	 	CYYR1-AS1																		rs150760	0.465056	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	APP(dist=265012),CYYR1(dist=30070)	APP(dist=265012),CYYR1(dist=30070)	ENSG00000197934,ENSG00000232692	Na	Na	Na	Na	Na	Na	Het;A>G	636;22|28	Hom;A>G	880;0|32
N	N	-	21	28488585	28488585	C	G	snp	intergenic	 	 	 	 	ADAMTS5	Adamts5	ENSG00000154736	ADAM metallopeptidase with thrombospondin type 1 motif 5	chr21:28290231-28338832	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]	Arteries; kidney aging; Degenerative arthropathy |Osteoarthritis; Triglycerides; Osteoarthritis	Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect.	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0042742;defense response to bacterium;IEA|GO:0044691;tooth eruption;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS5	https://www.uniprot.org/uniprot/Q9UNA0		https://www.ncbi.nlm.nih.gov/omim/?term=605007	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS5&submit=Quick%0D%9802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS5	rs10470084	0.865615	0	0	1	0	0	intergenic	intergenic	intergenic	ADAMTS5(dist=149146),MIR5009(dist=171237)	ADAMTS5(dist=149146),BC043580(dist=242619)	ENSG00000154736(dist=149753),ENSG00000215326(dist=27078)	Na	Na	Na	Na	Na	Na	Het;C>G	35;5|2	Hom;C>G	136;0|6
N	N	-	21	28888680	28888680	A	C	snp	ncRNA_intronic	 	 	 	 	MIR5009																		rs2830992	0.210463	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	MIR5009	BC043580(dist=67782),LINC00113(dist=206018)	ENSG00000219592(dist=24100),ENSG00000234052(dist=122332)	Na	Na	Na	Na	Na	Na	Het;A>C	640;29|29	Hom;A>C	1875;0|68
N	N	-	21	29488409	29488409	A	G	snp	ncRNA_intronic	 	 	 	 	AX747935																		rs9978992	0.54972	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC284825	AX747935	ENSG00000232079	Na	Na	Na	Na	Na	Na	Het;A>G	572;34|18	Hom;A>G	1515;2|42
N	N	-	21	29488434	29488434	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs9979855	0.546326	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;T>C	485;30|15	Hom;T>C	1277;2|31
N	N	-	21	29489037	29489037	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs9980484	0.49381	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;T>C	293;29|17	Hom;T>C	1691;1|57
N	N	-	21	29489222	29489222	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs10222172	0.754593	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;G>A	132;12|8	Hom;G>A	378;0|14
N	N	-	21	29489648	29489648	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs73183134	0.214457	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;C>T	1120;61|54	Hom;C>T	2539;0|94
N	N	-	21	29489932	29489932	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776146	0.49381	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;C>T	146;10|6	Hom;C>T	690;0|24
N	N	-	21	29490308	29490308	A	T	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs12151952	0.215256	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;A>T	109;36|10	Hom;A>T	1357;0|53
N	N	-	21	29490495	29490495	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2746190	0.504393	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;A>G	858;81|43	Hom;A>G	3101;1|114
N	N	-	21	29490999	29490999	T	G	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776150	0.504393	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;T>G	1185;77|50	Hom;T>G	3387;0|109
N	N	-	21	29491197	29491197	A	T	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2746191	0.504393	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;A>T	2092;130|102	Hom;A>T	5260;2|196
N	N	-	21	29491223	29491223	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2746192	0.504193	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;A>G	1803;109|81	Hom;A>G	4357;3|146
N	N	-	21	29491298	29491298	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776151	0.504193	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;T>C	1166;54|52	Hom;T>C	2505;0|81
N	N	-	21	29491481	29491481	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776153	0.504593	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;T>C	715;29|31	Hom;T>C	1848;0|58
N	N	-	21	29491572	29491572	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776154	0.758187	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;G>C	368;22|18	Hom;G>C	2128;0|64
N	N	-	21	29491652	29491652	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776155	0.491414	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;G>A	1088;41|30	Hom;G>A	4307;0|101
N	N	-	21	29491661	29491661	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs73183136	0.213059	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;A>G	1101;45|30	Hom;A>G	4233;0|95
N	N	-	21	29491730	29491730	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776156	0.491813	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;C>T	955;56|47	Hom;C>T	2610;0|90
N	N	-	21	29491834	29491834	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2746193	0.504193	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;A>G	1178;34|49	Hom;A>G	1954;0|74
N	N	-	21	29492172	29492172	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927973																		rs2776158	0.504193	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927973	BC047600	ENSG00000236532	Na	Na	Na	Na	Na	Na	Het;C>T	80;4|5	Hom;C>T	408;0|14
N	N	-	21	30566044	30566048	TTTTG	T	indel	ncRNA_exonic	 	 	 	 	LINC00189																		rs149895218	0.809305	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00189	LINC00189	ENSG00000215533	Na	Na	Na	Na	Na	Na	Het;-TTTG	1836;41|48	Hom;-TTTG	2963;0|70
N	N	-	21	30566236	30566236	T	A	snp	ncRNA_exonic	 	 	 	 	LINC00189																		rs11088112	0.442891	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00189	LINC00189	ENSG00000215533	Na	Na	Na	Na	Na	Na	Het;T>A	90;5|4	Hom;T>A	202;0|7
N	N	-	21	30595369	30595369	C	T	snp	ncRNA_exonic	 	 	 	 	GAPDHP14																		rs4816342	0.403754	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00189	LINC00189	ENSG00000236056	Na	Na	Na	Na	Na	Na	Het;C>T	42;2|3	Hom;C>T	71;0|4
N	N	-	21	30613466	30613466	C	A	snp	ncRNA_intronic	 	 	 	 	LINC00189																		rs2832279	0.230032	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00189	LINC00189	ENSG00000215533	Na	Na	Na	Na	Na	Na	Het;C>A	832;68|44	Hom;C>A	1858;0|67
N	N	-	21	31186193	31186193	A	T	snp	intronic	 	 	 	 	GRIK1	Grik1	ENSG00000171189	glutamate ionotropic receptor kainate type subunit 1	chr21:30909254-31312351	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]	Sleep; several psychiatric disorders; alcohol consumption; Tobacco Use Disorder; Huntington disease; Body Mass Index; esophageal adenocarcinoma; hyperactive-impulsive symptoms; Leukocyte Count; schizophrenia; Attention Deficit Disorder with Hyperactivity; Body Weight; Breast cancer; Alcoholism; major depressive disorder; epilepsy	Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain.  Response to chemical pain stimuli is also reduced.	Activation of Ca-permeable Kainate Receptor	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007399;nervous system development;TAS|GO:0007417;central nervous system development;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;TAS|GO:0060079;excitatory postsynaptic potential;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015277;kainate selective glutamate receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GRIK1			https://www.ncbi.nlm.nih.gov/omim/?term=138245	http://www.informatics.jax.org/searchtool/Search.do?query=GRIK1&submit=Quick%0D%12871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIK1	rs2832445	0.36262	0	0	1	0	0	intronic	intronic	intronic	GRIK1	GRIK1	ENSG00000171189	Na	Na	Na	Na	Na	Na	Het;A>T	1168;92|62	Hom;A>T	3616;0|138
N	N	-	21	31186319	31186319	C	A	snp	intronic	 	 	 	 	GRIK1	Grik1	ENSG00000171189	glutamate ionotropic receptor kainate type subunit 1	chr21:30909254-31312351	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]	Sleep; several psychiatric disorders; alcohol consumption; Tobacco Use Disorder; Huntington disease; Body Mass Index; esophageal adenocarcinoma; hyperactive-impulsive symptoms; Leukocyte Count; schizophrenia; Attention Deficit Disorder with Hyperactivity; Body Weight; Breast cancer; Alcoholism; major depressive disorder; epilepsy	Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain.  Response to chemical pain stimuli is also reduced.	Activation of Ca-permeable Kainate Receptor	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007399;nervous system development;TAS|GO:0007417;central nervous system development;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;TAS|GO:0060079;excitatory postsynaptic potential;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015277;kainate selective glutamate receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GRIK1			https://www.ncbi.nlm.nih.gov/omim/?term=138245	http://www.informatics.jax.org/searchtool/Search.do?query=GRIK1&submit=Quick%0D%12871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIK1	rs7282811	0.407947	0	0	1	0	0	intronic	intronic	intronic	GRIK1	GRIK1	ENSG00000171189	Na	Na	Na	Na	Na	Na	Het;C>A	540;13|26	Hom;C>A	754;0|28
N	N	-	21	31973342	31973342	C	G	snp	upstream	 	 	 	 	KRTAP22-1		ENSG00000186924	keratin associated protein 22-1	chr21:31973414-31973612				Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP22-1				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP22-1&submit=Quick%0D%15740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP22-1	rs198913	0.21226	0	0	1	0	0	upstream	upstream	upstream	KRTAP22-1	KRTAP22-1	ENSG00000186924	Na	Na	Na	Na	Na	Na	Het;C>G	80;8|4	Hom;C>G	92;0|4
N	N	-	21	32689328	32689328	G	A	snp	intronic	 	 	 	 	TIAM1	Tiam1	ENSG00000156299	T-cell lymphoma invasion and metastasis 1	chr21:32490734-32932290		Hip; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis; coronary spastic angina; Breath Tests; Obesity; Neuroblastoma	Mice homozygous for a targeted null allele display resistance to chemically-induced tumors, however, tumors that do develop progress to malignancy. Mice homozygous for a gene trap allele display anencephaly, exencephaly and/or neural tube defects.	G alpha (12/13) signalling events	GO:0003300;cardiac muscle hypertrophy;IEA|GO:0006915;apoptotic process;IEA|GO:0007160;cell-matrix adhesion;IMP|GO:0007165;signal transduction;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010717;regulation of epithelial to mesenchymal transition;IDA|GO:0010718;positive regulation of epithelial to mesenchymal transition;NAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016477;cell migration;IMP|GO:0016601;Rac protein signal transduction;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042220;response to cocaine;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IEA|GO:0072657;protein localization to membrane;IEA|GO:0090630;activation of GTPase activity;IDA|GO:0098989;NMDA selective glutamate receptor signaling pathway;IEA|GO:1904268;positive regulation of Schwann cell chemotaxis;IEA|GO:1904338;regulation of dopaminergic neuron differentiation;ISS|GO:1905274;regulation of modification of postsynaptic actin cytoskeleton;IEA|GO:1990138;neuron projection extension;IEA|GO:2000050;regulation of non-canonical Wnt signaling pathway;ISS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0032587;ruffle membrane;IEA|GO:0036477;somatodendritic compartment;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0044295;axonal growth cone;IEA|GO:0044304;main axon;IEA|GO:0045202;synapse;IEA	GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008289;lipid binding;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0048365;Rac GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIAM1	https://www.uniprot.org/uniprot/Q13009		https://www.ncbi.nlm.nih.gov/omim/?term=600687	http://www.informatics.jax.org/searchtool/Search.do?query=TIAM1&submit=Quick%0D%9967ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIAM1	rs845968	0.479233	0	0	1	0	0	intronic	intronic	intronic	TIAM1	TIAM1	ENSG00000156299	Na	Na	Na	Na	Na	Na	Het;G>A	369;21|20	Hom;G>A	1558;0|59
N	N	-	21	33684415	33684415	A	G	snp	UTR3	*2814T>C	 	 	 	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs2833761	0.223842	0	0	1	0	0	UTR3	UTR3	UTR3	MRAP(NM_178817:c.*108A>G,NM_001285394:c.*108A>G),URB1(NM_014825:c.*2814T>C)	MRAP(uc002ypj.3:c.*108A>G,uc011ado.2:c.*108A>G,uc002ypl.3:c.*108A>G),URB1(uc002ypn.2:c.*2814T>C)	ENSG00000142207(ENST00000382751:c.*2814T>C),ENSG00000170262(ENST00000399784:c.*108A>G,ENST00000303645:c.*108A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	544;55|30	Hom;A>G	2050;0|79
N	N	-	21	33688865	33688865	A	G	snp	synonymous SNV	T6546C	A2182A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs7279896	0.25	0.2486	0.1769	1	0	0	exonic	exonic	exonic	URB1	URB1	ENSG00000142207	synonymous SNV	synonymous SNV	unknown	URB1:NM_014825:exon38:c.T6546C:p.A2182A,	URB1:uc002ypn.2:exon38:c.T6546C:p.A2182A,	UNKNOWN	Het;A>G	1492;64|73	Hom;A>G	3237;0|120
N	N	-	21	33694257	33694257	A	T	snp	intronic	 	 	 	 	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs2833765	0.162141	0.1647	0.1470	1	0	0	intronic	intronic	intronic	URB1	URB1	ENSG00000142207	Na	Na	Na	Na	Na	Na	Het;A>T	523;25|26	Hom;A>T	1914;0|68
N	N	-	21	33694586	33694586	A	T	snp	intronic	 	 	 	 	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs2833766	0.16234	0	0	1	0	0	intronic	intronic	intronic	URB1	URB1	ENSG00000142207	Na	Na	Na	Na	Na	Na	Het;A>T	64;1|3	Hom;A>T	103;0|4
N	N	-	21	33697000	33697000	G	A	snp	intronic	 	 	 	 	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs2070377	0.20028	0	0	1	0	0	intronic	intronic	intronic	URB1	URB1	ENSG00000142207	Na	Na	Na	Na	Na	Na	Het;G>A	306;8|16	Hom;G>A	623;0|22
N	N	-	21	33711229	33711229	G	C	snp	intronic	 	 	 	 	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs9978210	0.167133	0	0.1505	1	0	0	intronic	intronic	intronic	URB1	URB1	ENSG00000142207	Na	Na	Na	Na	Na	Na	Het;G>C	780;44|38	Hom;G>C	2258;0|82
N	N	-	21	33713885	33713885	T	C	snp	intronic	 	 	 	 	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs2833778	0.162939	0.1656	0	1	0	0	intronic	intronic	intronic	URB1	URB1	ENSG00000142207	Na	Na	Na	Na	Na	Na	Het;T>C	449;8|20	Hom;T>C	900;0|30
N	N	-	21	33717877	33717877	G	A	snp	synonymous SNV	C3876T	S1292S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs2833779	0.172923	0.1730	0.1691	1	0	0	exonic	exonic	exonic	URB1	URB1	ENSG00000142207	synonymous SNV	synonymous SNV	unknown	URB1:NM_014825:exon23:c.C3876T:p.S1292S,	URB1:uc002ypn.2:exon23:c.C3876T:p.S1292S,	UNKNOWN	Het;G>A	161;7|9	Hom;G>A	550;0|20
N	N	-	21	33719400	33719400	A	G	snp	synonymous SNV	T3733C	L1245L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs9981151	0.223243	0.2179	0.1745	1	0	0	exonic	exonic	exonic	URB1	URB1	ENSG00000142207	synonymous SNV	synonymous SNV	unknown	URB1:NM_014825:exon22:c.T3733C:p.L1245L,	URB1:uc002ypn.2:exon22:c.T3733C:p.L1245L,	UNKNOWN	Het;A>G	583;53|29	Hom;A>G	2446;0|85
N	N	-	21	33721455	33721455	T	C	snp	intronic	 	 	 	 	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs73903307	0.182907	0	0	1	0	0	intronic	intronic	intronic	URB1	URB1	ENSG00000142207	Na	Na	Na	Na	Na	Na	Het;T>C	34;4|2	Hom;T>C	130;0|4
N	N	-	21	33755763	33755763	G	A	snp	synonymous SNV	C535T	L179L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	URB1	Urb1	ENSG00000142207	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	chr21:33683329-33765335			 		GO:0008150;biological_process;ND	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/URB1	https://www.uniprot.org/uniprot/O60287		https://www.ncbi.nlm.nih.gov/omim/?term=608865	http://www.informatics.jax.org/searchtool/Search.do?query=URB1&submit=Quick%0D%8263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=URB1	rs2833795	0.555112	0.4396	0.3902	1	0	0	exonic	exonic	exonic	URB1	URB1	ENSG00000142207	synonymous SNV	synonymous SNV	unknown	URB1:NM_014825:exon4:c.C535T:p.L179L,	URB1:uc002ypn.2:exon4:c.C535T:p.L179L,	UNKNOWN	Het;G>A	606;28|29	Hom;G>A	1328;0|49
N	N	-	21	34638031	34638031	C	T	snp	ncRNA_exonic	 	 	 	 	IL10RB-AS1																		rs999788	0.303914	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	IL10RB-AS1	IL10RB-AS1	ENSG00000223799	Na	Na	Na	Na	Na	Na	Het;C>T	1105;78|58	Hom;C>T	2963;0|109
N	N	-	21	34640788	34640788	A	G	snp	nonsynonymous SNV	A139G	K47E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	IL10RB	Il10rb	ENSG00000243646	interleukin 10 receptor subunit beta	chr21:34638663-34669539	The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]	Inflammation|Premature Birth; Infection|Inflammation|Premature Birth; Premature Birth|Vaginosis, Bacterial; Type 2 Diabetes| edema | rosiglitazone; Multiple Myeloma; Hyperparathyroidism, Secondary; Premature Birth; HIV Infections|[X]Human immunodeficiency virus disease; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Graft vs Host Disease; lung cancer; measles vaccine immunity; Scleroderma, Diffuse; Hepatitis B, Chronic; longevity; lung cancer ; benzene haematotoxicity; Measles|Mumps|Rubella; respiratory syncytial virus bronchiolitis; graft-versus-host disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Most mice homozygous for a knock-out allele develop moderate to severe colitis without small intestinal involvement and splenomegaly with a hyperproliferative splenic red pulp.	Interleukin-19,20,22,24,26,28 and 29 signaling	GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0051607;defense response to virus;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0032002;interleukin-28 receptor complex;NAS|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS|GO:0004920;interleukin-10 receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL10RB		https://hpo.jax.org/app/browse/search?q=IL10RB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=123889	http://www.informatics.jax.org/searchtool/Search.do?query=IL10RB&submit=Quick%0D%19794ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL10RB	rs2834167	0.339457	0.2145	0.3189	0.15	2	13	exonic	exonic	exonic	IL10RB	IL10RB	ENSG00000243646,ENSG00000249624	nonsynonymous SNV	nonsynonymous SNV	unknown	IL10RB:NM_000628:exon2:c.A139G:p.K47E,	IL10RB:uc002yrl.2:exon1:c.A145G:p.K49E,IL10RB:uc002yrk.2:exon2:c.A139G:p.K47E,IL10RB:uc002yrh.1:exon3:c.A349G:p.K117E,	UNKNOWN	Het;A>G	850;55|42	Hom;A>G	2089;0|81
N	N	-	21	34707808	34707808	T	G	snp	intronic	 	 	 	 	IFNAR1	Ifnar1	ENSG00000142166	interferon alpha and beta receptor subunit 1	chr21:34696734-34732168	The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; myeloid leukemia; hepatitis C; thyroid cancer; Hepatitis B; Respiratory Syncytial Virus Infections; lung cancer ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C, Chronic; bone density; Hepatitis C, Chronic|Liver Cirrhosis; depression; HIV; malaria; hepatocellular carcinoma; Hepatitis C|Remission, Spontaneous; Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver Cirrhosis|Liver Failure|Liver neoplasms; Severe Malaria; hepatitis B, chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lung cancer; Hepatitis B, Chronic; Bone Mineral Density; multiple sclerosis; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; Hepatitis C, Chronic|Multiple Sclerosis; respiratory syncytial virus bronchiolitis; Asthma. total IgE. SPT; Dengue Hemorrhagic Fever	Homozygotes for targeted null mutations exhibit increased susceptibility to viral infection, elevated levels of myeloid lineage cells in the peripheral blood and bone marrow, and reduced immune response to immunostimulatory DNA.	Regulation of IFNA signaling	GO:0007259;JAK-STAT cascade;TAS|GO:0009615;response to virus;TAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0042110;T cell activation;IEA|GO:0045351;type I interferon biosynthetic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS	GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004904;interferon receptor activity;IEA|GO:0004905;type I interferon receptor activity;IDA|GO:0004920;interleukin-10 receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019962;type I interferon binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IFNAR1	https://www.uniprot.org/uniprot/P17181		https://www.ncbi.nlm.nih.gov/omim/?term=107450	http://www.informatics.jax.org/searchtool/Search.do?query=IFNAR1&submit=Quick%0D%8253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNAR1	rs2243592	0.362819	0.3724	0.4275	1	0	0	intronic	intronic	intronic	IFNAR1	IFNAR1	ENSG00000142166	Na	Na	Na	Na	Na	Na	Het;T>G	643;32|29	Hom;T>G	1348;0|46
N	N	-	21	34708061	34708061	A	G	snp	intronic	 	 	 	 	IFNAR1	Ifnar1	ENSG00000142166	interferon alpha and beta receptor subunit 1	chr21:34696734-34732168	The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; myeloid leukemia; hepatitis C; thyroid cancer; Hepatitis B; Respiratory Syncytial Virus Infections; lung cancer ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C, Chronic; bone density; Hepatitis C, Chronic|Liver Cirrhosis; depression; HIV; malaria; hepatocellular carcinoma; Hepatitis C|Remission, Spontaneous; Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver Cirrhosis|Liver Failure|Liver neoplasms; Severe Malaria; hepatitis B, chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lung cancer; Hepatitis B, Chronic; Bone Mineral Density; multiple sclerosis; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; Hepatitis C, Chronic|Multiple Sclerosis; respiratory syncytial virus bronchiolitis; Asthma. total IgE. SPT; Dengue Hemorrhagic Fever	Homozygotes for targeted null mutations exhibit increased susceptibility to viral infection, elevated levels of myeloid lineage cells in the peripheral blood and bone marrow, and reduced immune response to immunostimulatory DNA.	Regulation of IFNA signaling	GO:0007259;JAK-STAT cascade;TAS|GO:0009615;response to virus;TAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0042110;T cell activation;IEA|GO:0045351;type I interferon biosynthetic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS	GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004904;interferon receptor activity;IEA|GO:0004905;type I interferon receptor activity;IDA|GO:0004920;interleukin-10 receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019962;type I interferon binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IFNAR1	https://www.uniprot.org/uniprot/P17181		https://www.ncbi.nlm.nih.gov/omim/?term=107450	http://www.informatics.jax.org/searchtool/Search.do?query=IFNAR1&submit=Quick%0D%8253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNAR1	rs2243594	0.362819	0	0	1	0	0	intronic	intronic	intronic	IFNAR1	IFNAR1	ENSG00000142166	Na	Na	Na	Na	Na	Na	Het;A>G	129;9|5	Hom;A>G	573;0|17
N	N	-	21	34959776	34959776	G	A	snp	intronic	 	 	 	 	DONSON	Donson	ENSG00000159147	downstream neighbor of SON	chr21:34931848-34961014	This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]		Homozygous knockout is early embryonic lethal. Heterozygous knockout causes no observable phenotype.		GO:0007275;multicellular organism development;IEA|GO:0008150;biological_process;ND|GO:0033260;nuclear DNA replication;IBA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/DONSON		https://hpo.jax.org/app/browse/search?q=DONSON&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611428	http://www.informatics.jax.org/searchtool/Search.do?query=DONSON&submit=Quick%0D%10288ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DONSON	rs7283856	0.710264	0	0	1	0	0	intronic	intronic	intronic	DONSON	DONSON	ENSG00000159147,ENSG00000249209	Na	Na	Na	Na	Na	Na	Het;G>A	569;4|27	Hom;G>A	344;2|16
N	N	-	21	35857700	35857700	T	C	snp	intronic	 	 	 	 	KCNE1	Kcne1	ENSG00000180509	potassium voltage-gated channel subfamily E regulatory subunit 1	chr21:35818988-35884573	The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]	Arrhythmias, Cardiac|; atriventricular block long QT syndrome; meniere's disease; hearing impairment|Hearing Loss; Long QT Syndrome; cardiovascular; long-QT syndrome; Atrial Fibrillation|; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; Death, Sudden, Cardiac|Long QT Syndrome; Diabetes Mellitus, Type 2|Long QT Syndrome; EKG, abnormal; atrial fibrillation; Brugada Syndrome|Chromosome Deletion|Death, Sudden, Cardiac|Long QT Syndrome|Sudden Cardiac Death; Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Hyperparathyroidism, Secondary; Hearing Loss, Noise-Induced; Death, Sudden, Cardiac|Sudden Cardiac Death; null; Arrhythmias, Cardiac|Brugada Syndrome|Cardiomyopathies|Channelopathies|Death, Sudden, Cardiac|Sudden Cardiac Death; Atrioventricular Block|Death, Sudden|Syncope|Torsades de Pointes; EKG, abnormal; Brugada syndrome; Arrhythmias, Cardiac|Cardiovascular Diseases; Gastroparesis; Atrial Fibrillation; Electrocardiography; Arrhythmias, Cardiac|Long QT Syndrome; SIDS/sudden infant death syndrome; Arrhythmias, Cardiac|Myocardial Infarction; long QT syndrome; Long QT Syndrome|Sudden Infant Death	Homozygotes for targeted and spontaneous null mutations exhibit head-shaking, circling, ataxia, and severe deafness associated with inner ear defects. Older mutants show increased numbers of T cells. Study of cardiac myocytes in one line revealed physiologic defects.	Phase 2 - plateau phase	GO:0006487;protein N-linked glycosylation;IDA|GO:0006493;protein O-linked glycosylation;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007605;sensory perception of sound;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0061337;cardiac conduction;TAS|GO:0071320;cellular response to cAMP;IDA|GO:0071435;potassium ion export;IDA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086009;membrane repolarization;IDA|GO:0086011;membrane repolarization during action potential;IDA|GO:0086013;membrane repolarization during cardiac muscle cell action potential;IDA|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090315;negative regulation of protein targeting to membrane;ISS|GO:0098915;membrane repolarization during ventricular cardiac muscle cell action potential;IMP|GO:1901379;regulation of potassium ion transmembrane transport;IDA|GO:1901381;positive regulation of potassium ion transmembrane transport;IDA|GO:1902259;regulation of delayed rectifier potassium channel activity;IDA|GO:1902260;negative regulation of delayed rectifier potassium channel activity;IDA	GO:0005764;lysosome;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IC|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030018;Z disc;ISS|GO:0045121;membrane raft;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005251;delayed rectifier potassium channel activity;IDA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0031433;telethonin binding;IPI|GO:0086008;voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization;IDA|GO:1902282;voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;IMP	http://www.genecards.org/index.php?path=/Search/keyword/KCNE1		https://hpo.jax.org/app/browse/search?q=KCNE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176261	http://www.informatics.jax.org/searchtool/Search.do?query=KCNE1&submit=Quick%0D%14490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNE1	rs4817659	0.586661	0	0	1	0	0	intronic	intronic	intronic	KCNE1	KCNE1	ENSG00000180509	Na	Na	Na	Na	Na	Na	Het;T>C	220;8|11	Hom;T>C	531;0|20
N	N	-	21	35893737	35893737	T	C	snp	nonsynonymous SNV	A481G	R161G	polar,hydrophilic,charged(+)	aliphatic,neutral	RCAN1	Rcan1	ENSG00000159200	regulator of calcineurin 1	chr21:35885440-35987441	The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]	Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder	Unstressed homozygous mutant mice show no overt phenotype other than a slight reduction in heart size and an impaired T helper 1 response. Stress-induced cardiac hypertrophy, however, is attenuated in mutant mice.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS|GO:0007519;skeletal muscle tissue development;IEA|GO:0008015;blood circulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0019722;calcium-mediated signaling;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IEA|GO:0043627;response to estrogen;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0051151;negative regulation of smooth muscle cell differentiation;IEA|GO:0070884;regulation of calcineurin-NFAT signaling cascade;IBA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0008597;calcium-dependent protein serine/threonine phosphatase regulator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RCAN1			https://www.ncbi.nlm.nih.gov/omim/?term=602917	http://www.informatics.jax.org/searchtool/Search.do?query=RCAN1&submit=Quick%0D%10299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RCAN1	rs8131131	0.59385	0	0.5032	0.25	1	4	intronic	exonic	exonic	RCAN1	RCAN1	ENSG00000159200	Na	nonsynonymous SNV	unknown	Na	RCAN1:uc011adx.1:exon3:c.A481G:p.R161G,	UNKNOWN	Het;T>C	1297;41|56	Hom;T>C	2002;2|77
N	N	-	21	36884344	36884344	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100506403																		rs2142100	0.95028	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	LOC100506403	LOC100506403	ENSG00000159216	Na	Na	Na	Na	Na	Na	Het;G>A	125;6|6	Hom;G>A	303;0|12
N	N	-	21	37377890	37377890	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01436																		rs2276228	0.751398	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01436	NONE(dist=NONE),SETD4(dist=28949)	ENSG00000231106	Na	Na	Na	Na	Na	Na	Het;A>C	1084;56|54	Hom;A>C	2592;0|93
N	N	-	21	37378153	37378153	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01436																		rs2254446	0.751398	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01436	NONE(dist=NONE),SETD4(dist=28686)	ENSG00000231106	Na	Na	Na	Na	Na	Na	Het;T>C	1736;62|76	Hom;T>C	2856;0|105
N	N	-	21	37379588	37379588	T	C	snp	ncRNA_intronic	 	 	 	 	LINC01436																		rs4816517	0.333466	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01436	NONE(dist=NONE),SETD4(dist=27251)	ENSG00000231106	Na	Na	Na	Na	Na	Na	Het;T>C	502;14|22	Hom;T>C	1041;0|36
N	N	-	21	37406849	37406849	G	A	snp	UTR3	*1442C>T	 	 	 	SETD4	Setd4	ENSG00000185917	SET domain containing 4	chr21:37406839-37451687			 		GO:0018023;peptidyl-lysine trimethylation;IBA|GO:0018026;peptidyl-lysine monomethylation;IBA|GO:0032259;methylation;IEA|GO:0042254;ribosome biogenesis;IBA	GO:0005730;nucleolus;IBA	GO:0008168;methyltransferase activity;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IBA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SETD4				http://www.informatics.jax.org/searchtool/Search.do?query=SETD4&submit=Quick%0D%15522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETD4	rs762364	0.74361	0	0	1	0	0	UTR3	UTR3	UTR3	SETD4(NM_001286752:c.*1566C>T,NM_017438:c.*1442C>T)	SETD4(uc021wiy.1:c.*1442C>T,uc002yuw.2:c.*1566C>T,uc002yux.2:c.*1566C>T)	ENSG00000185917(ENST00000332131:c.*1442C>T,ENST00000399212:c.*1566C>T,ENST00000399215:c.*1566C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	361;9|15	Hom;G>A	880;0|30
N	N	-	21	37408608	37408612	AACGT	A	indel	intronic	 	 	 	 	SETD4	Setd4	ENSG00000185917	SET domain containing 4	chr21:37406839-37451687			 		GO:0018023;peptidyl-lysine trimethylation;IBA|GO:0018026;peptidyl-lysine monomethylation;IBA|GO:0032259;methylation;IEA|GO:0042254;ribosome biogenesis;IBA	GO:0005730;nucleolus;IBA	GO:0008168;methyltransferase activity;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IBA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SETD4				http://www.informatics.jax.org/searchtool/Search.do?query=SETD4&submit=Quick%0D%15522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETD4	rs368480506	0.745607	0	0	1	0	0	intronic	intronic	intronic	SETD4	SETD4	ENSG00000185917,ENSG00000268098	Na	Na	Na	Na	Na	Na	Het;-ACGT	347;12|10	Hom;-ACGT	1633;0|38
N	N	-	21	37420650	37420650	G	A	snp	synonymous SNV	C180T	T60T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SETD4	Setd4	ENSG00000185917	SET domain containing 4	chr21:37406839-37451687			 		GO:0018023;peptidyl-lysine trimethylation;IBA|GO:0018026;peptidyl-lysine monomethylation;IBA|GO:0032259;methylation;IEA|GO:0042254;ribosome biogenesis;IBA	GO:0005730;nucleolus;IBA	GO:0008168;methyltransferase activity;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IBA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SETD4				http://www.informatics.jax.org/searchtool/Search.do?query=SETD4&submit=Quick%0D%15522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETD4	rs8738	0.124201	0.0839	0.1290	1	0	0	exonic	exonic	exonic	SETD4	SETD4	ENSG00000185917	synonymous SNV	synonymous SNV	unknown	SETD4:NM_001007261:exon6:c.C180T:p.T60T,SETD4:NM_001007259:exon5:c.C252T:p.T84T,SETD4:NM_001286752:exon6:c.C180T:p.T60T,SETD4:NM_017438:exon5:c.C252T:p.T84T,	SETD4:uc002yuz.3:exon6:c.C180T:p.T60T,SETD4:uc002yva.3:exon6:c.C180T:p.T60T,SETD4:uc002yuy.3:exon5:c.C252T:p.T84T,SETD4:uc002yux.2:exon6:c.C180T:p.T60T,SETD4:uc021wiy.1:exon5:c.C252T:p.T84T,SETD4:uc002yuw.2:exon4:c.C252T:p.T84T,	UNKNOWN	Het;G>A	1078;131|63	Hom;G>A	4046;0|153
N	N	-	21	37422966	37422966	C	T	snp	ncRNA_exonic	 	 	 	 	RIMKLBP1																		rs2018721	0.745008	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SETD4	SETD4	ENSG00000189089	Na	Na	Na	Na	Na	Na	Het;C>T	802;36|37	Hom;C>T	1855;0|65
N	N	-	21	37425955	37425955	C	T	snp	intronic	 	 	 	 	SETD4	Setd4	ENSG00000185917	SET domain containing 4	chr21:37406839-37451687			 		GO:0018023;peptidyl-lysine trimethylation;IBA|GO:0018026;peptidyl-lysine monomethylation;IBA|GO:0032259;methylation;IEA|GO:0042254;ribosome biogenesis;IBA	GO:0005730;nucleolus;IBA	GO:0008168;methyltransferase activity;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IBA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SETD4				http://www.informatics.jax.org/searchtool/Search.do?query=SETD4&submit=Quick%0D%15522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETD4	rs762360	0.738618	0.7260	0.7250	1	0	0	intronic	intronic	intronic	SETD4	SETD4	ENSG00000185917	Na	Na	Na	Na	Na	Na	Het;C>T	374;29|20	Hom;C>T	1289;0|49
N	N	-	21	37425971	37425971	C	T	snp	intronic	 	 	 	 	SETD4	Setd4	ENSG00000185917	SET domain containing 4	chr21:37406839-37451687			 		GO:0018023;peptidyl-lysine trimethylation;IBA|GO:0018026;peptidyl-lysine monomethylation;IBA|GO:0032259;methylation;IEA|GO:0042254;ribosome biogenesis;IBA	GO:0005730;nucleolus;IBA	GO:0008168;methyltransferase activity;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IBA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SETD4				http://www.informatics.jax.org/searchtool/Search.do?query=SETD4&submit=Quick%0D%15522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETD4	rs762361	0.738419	0.7212	0	1	0	0	intronic	intronic	intronic	SETD4	SETD4	ENSG00000185917	Na	Na	Na	Na	Na	Na	Het;C>T	313;20|16	Hom;C>T	987;0|36
N	N	-	21	37433156	37433156	T	G	snp	upstream	 	 	 	 	SETD4	Setd4	ENSG00000185917	SET domain containing 4	chr21:37406839-37451687			 		GO:0018023;peptidyl-lysine trimethylation;IBA|GO:0018026;peptidyl-lysine monomethylation;IBA|GO:0032259;methylation;IEA|GO:0042254;ribosome biogenesis;IBA	GO:0005730;nucleolus;IBA	GO:0008168;methyltransferase activity;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IBA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SETD4				http://www.informatics.jax.org/searchtool/Search.do?query=SETD4&submit=Quick%0D%15522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETD4	rs7281482	0.739816	0	0	1	0	0	upstream	intronic	ncRNA_intronic	SETD4	SETD4	ENSG00000236677	Na	Na	Na	Na	Na	Na	Het;T>G	459;14|20	Hom;T>G	1018;0|36
N	N	-	21	37442632	37442632	G	C	snp	synonymous SNV	G219C	L73L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CBR1	Cbr1	ENSG00000159228	carbonyl reductase 1	chr21:37442239-37445464	The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]	carbonyl reductase 1; lung cancer; chronic obstructive pulmonary disease; bladder cancer; Breast Neoplasms; lung cancer ; breast cancer ; Socioeconomic Factors	 	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	GO:0017144;drug metabolic process;IDA|GO:0019371;cyclooxygenase pathway;TAS|GO:0030855;epithelial cell differentiation;IEP|GO:0042373;vitamin K metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004090;carbonyl reductase (NADPH) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0047021;15-hydroxyprostaglandin dehydrogenase (NADP+) activity;IEA|GO:0050221;prostaglandin-E2 9-reductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CBR1			https://www.ncbi.nlm.nih.gov/omim/?term=114830	http://www.informatics.jax.org/searchtool/Search.do?query=CBR1&submit=Quick%0D%10308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR1	rs25678	0.160543	0.1210	0.1616	1	0	0	exonic	exonic	exonic	CBR1	CBR1	ENSG00000159228	synonymous SNV	synonymous SNV	unknown	CBR1:NM_001757:exon1:c.G219C:p.L73L,CBR1:NM_001286789:exon1:c.G219C:p.L73L,	CBR1:uc010gmy.1:exon1:c.G219C:p.L73L,CBR1:uc010gmx.1:exon1:c.G219C:p.L73L,CBR1:uc002yvb.1:exon1:c.G219C:p.L73L,	UNKNOWN	Het;G>C	2189;121|99	Hom;G>C	5253;0|174
N	N	-	21	37444120	37444120	C	T	snp	synonymous SNV	C405T	C135C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	CBR1	Cbr1	ENSG00000159228	carbonyl reductase 1	chr21:37442239-37445464	The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]	carbonyl reductase 1; lung cancer; chronic obstructive pulmonary disease; bladder cancer; Breast Neoplasms; lung cancer ; breast cancer ; Socioeconomic Factors	 	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	GO:0017144;drug metabolic process;IDA|GO:0019371;cyclooxygenase pathway;TAS|GO:0030855;epithelial cell differentiation;IEP|GO:0042373;vitamin K metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004090;carbonyl reductase (NADPH) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0047021;15-hydroxyprostaglandin dehydrogenase (NADP+) activity;IEA|GO:0050221;prostaglandin-E2 9-reductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CBR1			https://www.ncbi.nlm.nih.gov/omim/?term=114830	http://www.informatics.jax.org/searchtool/Search.do?query=CBR1&submit=Quick%0D%10308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR1	rs35710857	0.126198	0	0.1523	1	0	0	exonic	exonic	exonic	CBR1	CBR1	ENSG00000159228	synonymous SNV	synonymous SNV	unknown	CBR1:NM_001286789:exon3:c.C405T:p.C135C,	CBR1:uc010gmy.1:exon3:c.C405T:p.C135C,	UNKNOWN	Het;C>T	754;44|40	Hom;C>T	1690;2|65
N	N	-	21	37444696	37444696	C	T	snp	unknown	 	 	 	 	CBR1	Cbr1	ENSG00000159228	carbonyl reductase 1	chr21:37442239-37445464	The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]	carbonyl reductase 1; lung cancer; chronic obstructive pulmonary disease; bladder cancer; Breast Neoplasms; lung cancer ; breast cancer ; Socioeconomic Factors	 	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	GO:0017144;drug metabolic process;IDA|GO:0019371;cyclooxygenase pathway;TAS|GO:0030855;epithelial cell differentiation;IEP|GO:0042373;vitamin K metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004090;carbonyl reductase (NADPH) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0047021;15-hydroxyprostaglandin dehydrogenase (NADP+) activity;IEA|GO:0050221;prostaglandin-E2 9-reductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CBR1			https://www.ncbi.nlm.nih.gov/omim/?term=114830	http://www.informatics.jax.org/searchtool/Search.do?query=CBR1&submit=Quick%0D%10308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR1	rs2835265	0.126398	0.0860	0.1362	0.22	2	9	ncRNA_intronic	ncRNA_intronic	exonic	LOC100133286	LOC100133286	ENSG00000159228	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	130;13|6	Hom;C>T	473;0|20
N	N	-	21	37444973	37444973	C	T	snp	synonymous SNV	C627T	A209A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CBR1	Cbr1	ENSG00000159228	carbonyl reductase 1	chr21:37442239-37445464	The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]	carbonyl reductase 1; lung cancer; chronic obstructive pulmonary disease; bladder cancer; Breast Neoplasms; lung cancer ; breast cancer ; Socioeconomic Factors	 	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	GO:0017144;drug metabolic process;IDA|GO:0019371;cyclooxygenase pathway;TAS|GO:0030855;epithelial cell differentiation;IEP|GO:0042373;vitamin K metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004090;carbonyl reductase (NADPH) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0047021;15-hydroxyprostaglandin dehydrogenase (NADP+) activity;IEA|GO:0050221;prostaglandin-E2 9-reductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CBR1			https://www.ncbi.nlm.nih.gov/omim/?term=114830	http://www.informatics.jax.org/searchtool/Search.do?query=CBR1&submit=Quick%0D%10308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR1	rs20572	0.1252	0.0863	0.1327	1	0	0	exonic	exonic	exonic	CBR1	CBR1	ENSG00000159228	synonymous SNV	synonymous SNV	unknown	CBR1:NM_001757:exon3:c.C627T:p.A209A,	CBR1:uc002yvb.1:exon3:c.C627T:p.A209A,	UNKNOWN	Het;C>T	1323;66|63	Hom;C>T	3453;3|129
N	N	-	21	37505138	37505138	A	G	snp	ncRNA_exonic	 	 	 	 	CBR3-AS1																		rs13047406	0.314896	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CBR3-AS1	CBR3-AS1	ENSG00000214889,ENSG00000236830	Na	Na	Na	Na	Na	Na	Het;A>G	788;46|36	Hom;A>G	1095;4|44
N	N	-	21	37507769	37507769	C	T	snp	synonymous SNV	C279T	V93V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CBR3	Cbr3	ENSG00000159231	carbonyl reductase 3	chr21:37507210-37518864	Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols.  The enzyme is classified as a monomeric NADPH-dependent oxidoreductase.  CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]	breast cancer ; Breast Neoplasms; Heart Failure|Neoplasms; bladder cancer; chronic obstructive pulmonary disease; lung cancer ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; lung cancer	 	Phase I - Functionalization of compounds	GO:0006805;xenobiotic metabolic process;TAS|GO:0042376;phylloquinone catabolic process;IEA|GO:0050890;cognition;IMP|GO:0055114;oxidation-reduction process;IEA	GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000253;3-keto sterol reductase activity;IEA|GO:0004090;carbonyl reductase (NADPH) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0070402;NADPH binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CBR3			https://www.ncbi.nlm.nih.gov/omim/?term=603608	http://www.informatics.jax.org/searchtool/Search.do?query=CBR3&submit=Quick%0D%10309ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR3	rs881712	0.308506	0.3390	0.4123	1	0	0	exonic	exonic	exonic	CBR3	CBR3	ENSG00000159231	synonymous SNV	synonymous SNV	unknown	CBR3:NM_001236:exon1:c.C279T:p.V93V,	CBR3:uc002yve.3:exon1:c.C279T:p.V93V,	UNKNOWN	Het;C>T	1122;60|55	Hom;C>T	3550;0|130
N	N	-	21	37514155	37514155	G	A	snp	ncRNA_exonic	 	 	 	 	CBR3-AS1																		rs9305578	0.32488	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CBR3-AS1	CBR3-AS1	ENSG00000236830	Na	Na	Na	Na	Na	Na	Het;G>A	746;22|31	Hom;G>A	2007;0|69
N	N	-	21	37858951	37858951	C	G	snp	ncRNA_exonic	 	 	 	 	PSMD4P1																		rs8132946	0.144968	0	0	1	0	0	intronic	intronic	ncRNA_exonic	CLDN14	CLDN14	ENSG00000223741	Na	Na	Na	Na	Na	Na	Het;C>G	630;26|28	Hom;C>G	1729;0|53
N	N	-	21	38113998	38113998	C	A	snp	intronic	 	 	 	 	SIM2	Sim2	ENSG00000159263	single-minded family bHLH transcription factor 2	chr21:38071433-38122218	This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]	Scoliosis; Iron	Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0009880;embryonic pattern specification;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIM2			https://www.ncbi.nlm.nih.gov/omim/?term=600892	http://www.informatics.jax.org/searchtool/Search.do?query=SIM2&submit=Quick%0D%10316ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIM2	rs2070519	0.547125	0.6904	0.6143	1	0	0	intronic	intronic	intronic	SIM2	SIM2	ENSG00000159263	Na	Na	Na	Na	Na	Na	Het;C>A	891;50|45	Hom;C>A	2406;0|88
N	N	-	21	39494820	39494820	A	G	snp	ncRNA_intronic	 	 	 	 	DSCR8	 	ENSG00000198054	Down syndrome critical region 8 (non-protein coding)	chr21:39493545-39560110			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DSCR8			https://www.ncbi.nlm.nih.gov/omim/?term=613396	http://www.informatics.jax.org/searchtool/Search.do?query=DSCR8&submit=Quick%0D%16799ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCR8	rs2211855	0.696685	0	0	1	0	0	ncRNA_intronic	intronic	intronic	DSCR8	DSCR8	ENSG00000198054	Na	Na	Na	Na	Na	Na	Het;A>G	620;22|23	Hom;A>G	1441;0|47
N	N	-	21	39578221	39578221	T	C	snp	upstream	 	 	 	 	DSCR10																		rs1573271	0.463259	0	0	1	0	0	upstream	upstream	intronic	DSCR10	DSCR10	ENSG00000157551	Na	Na	Na	Na	Na	Na	Het;T>C	500;16|19	Hom;T>C	679;0|20
N	N	-	21	40072376	40072376	C	T	snp	intergenic	 	 	 	 	ERG	Erg	ENSG00000157554	ERG, ETS transcription factor	chr21:39751949-40033704	This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]	Lupus Vulgaris; Neutrophils; Hemoglobin A, Glycosylated; prostate cancer; Hematocrit; Erythrocyte Count; bone density; Tobacco Use Disorder; Glucose	Mice homozygous for an ENU-induced mutation or a knock-out of isoforms 5 - 7 die during organogenesis and  exhibit embryonic growth retardation. Mice homozygous for a knock-out of isoforms 1 - 4 are viable and fertile with no overt abnnormalities. Homozygous knock-out mice develop pulmonary venoocclusive disease, with pancytopenia, pulmonary hemorrhage and hypertension, and heart right ventricle hypertrophy.		GO:0003197;endocardial cushion development;IEA|GO:0003199;endocardial cushion to mesenchymal transition involved in heart valve formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0016477;cell migration;IEA|GO:0030154;cell differentiation;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:2000504;positive regulation of blood vessel remodeling;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030529;intracellular ribonucleoprotein complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERG			https://www.ncbi.nlm.nih.gov/omim/?term=165080	http://www.informatics.jax.org/searchtool/Search.do?query=ERG&submit=Quick%0D%10107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERG	rs6517477	0.795727	0	0	1	0	0	intergenic	intergenic	intergenic	ERG(dist=38672),LINC00114(dist=38503)	ERG(dist=38672),LINC00114(dist=38503)	ENSG00000157554(dist=38672),ENSG00000223806(dist=38569)	Na	Na	Na	Na	Na	Na	Het;C>T	45;1|3	Hom;C>T	425;0|16
N	N	-	21	40112319	40112319	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00114																		rs2836654	0.424121	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00114	LINC00114	ENSG00000223806	Na	Na	Na	Na	Na	Na	Het;T>C	932;50|43	Hom;T>C	2916;0|109
N	N	-	21	40112346	40112346	T	TA	indel	ncRNA_intronic	 	 	 	 	LINC00114																		rs34058533	0.414736	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00114	LINC00114	ENSG00000223806	Na	Na	Na	Na	Na	Na	Het;+A	655;36|30	Hom;+A	2215;0|74
N	N	-	21	40182177	40182177	T	C	snp	intronic	 	 	 	 	ETS2	Ets2	ENSG00000157557	ETS proto-oncogene 2, transcription factor	chr21:40177231-40196879	This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]	Bone Mineral Density; Tobacco Use Disorder	Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size.	Oncogene Induced Senescence	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0001712;ectodermal cell fate commitment;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007498;mesoderm development;IEA|GO:0030154;cell differentiation;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0090009;primitive streak formation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0035259;glucocorticoid receptor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ETS2			https://www.ncbi.nlm.nih.gov/omim/?term=164740	http://www.informatics.jax.org/searchtool/Search.do?query=ETS2&submit=Quick%0D%10108ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ETS2	rs3746882	0.175719	0	0	1	0	0	intronic	intronic	intronic	ETS2	ETS2	ENSG00000157557	Na	Na	Na	Na	Na	Na	Het;T>C	88;2|4	Hom;T>C	185;0|6
N	N	-	21	40543216	40543216	T	C	snp	ncRNA_exonic	 	 	 	 	PCBP2P1																		rs2836927	0.213259	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101928435(dist=193516),PSMG1(dist=4156)	SNORA62(dist=276425),PSMG1(dist=4156)	ENSG00000235701	Na	Na	Na	Na	Na	Na	Het;T>C	161;5|8	Hom;T>C	112;0|5
N	N	-	21	40763895	40763895	T	C	snp	UTR3	*91T>C	 	 	 	WRB	Wrb	ENSG00000182093	tryptophan rich basic protein	chr21:40752170-40800454	This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]		 		GO:0071816;tail-anchored membrane protein insertion into ER membrane;IEA	GO:0005634;nucleus;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WRB			https://www.ncbi.nlm.nih.gov/omim/?term=602915	http://www.informatics.jax.org/searchtool/Search.do?query=WRB&submit=Quick%0D%14715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WRB	rs2837001	0.697085	0	0	1	0	0	intronic	UTR3	intronic	WRB	WRB(uc011aep.1:c.*91T>C)	ENSG00000182093	Na	Na	Na	Na	Na	Na	Het;T>C	91;4|4	Hom;T>C	110;0|4
N	N	-	21	40778182	40778182	C	T	snp	nonsynonymous SNV	G1639A	G547S	aliphatic,neutral	polar,hydrophilic,neutral	LCA5L	Lca5l	ENSG00000157578	LCA5L, lebercilin like	chr21:40777770-40817731			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LCA5L				http://www.informatics.jax.org/searchtool/Search.do?query=LCA5L&submit=Quick%0D%10110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCA5L	rs11558767	0.0485224	0.0831	0.0849	0.00	0	13	exonic	exonic	exonic	LCA5L	LCA5L	ENSG00000157578	nonsynonymous SNV	nonsynonymous SNV	unknown	LCA5L:NM_152505:exon10:c.G1639A:p.G547S,	LCA5L:uc002yxv.3:exon10:c.G1639A:p.G547S,LCA5L:uc002yxu.3:exon10:c.G1639A:p.G547S,	UNKNOWN	Het;C>T	2258;135|107	Hom;C>T	5493;0|201
N	N	-	21	40871810	40871810	T	C	snp	nonsynonymous SNV	T563C	V188A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SH3BGR	Sh3bgr	ENSG00000185437	SH3 domain binding glutamate rich protein	chr21:40817781-40887433		obesity; Glucose	 		GO:0006461;protein complex assembly;TAS|GO:0009967;positive regulation of signal transduction;IEA	GO:0005829;cytosol;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3BGR			https://www.ncbi.nlm.nih.gov/omim/?term=602230	http://www.informatics.jax.org/searchtool/Search.do?query=SH3BGR&submit=Quick%0D%15415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BGR	rs9974333	0.550919	0.5061	0.5566	0.08	1	13	exonic	exonic	exonic	SH3BGR	SH3BGR	ENSG00000185437	nonsynonymous SNV	nonsynonymous SNV	unknown	SH3BGR:NM_007341:exon4:c.T563C:p.V188A,SH3BGR:NM_001001713:exon4:c.T230C:p.V77A,	SH3BGR:uc002yya.3:exon4:c.T563C:p.V188A,SH3BGR:uc002yxz.3:exon4:c.T230C:p.V77A,	UNKNOWN	Het;T>C	1115;80|52	Hom;T>C	3216;0|118
N	N	-	21	40872085	40872085	G	T	snp	intronic	 	 	 	 	SH3BGR	Sh3bgr	ENSG00000185437	SH3 domain binding glutamate rich protein	chr21:40817781-40887433		obesity; Glucose	 		GO:0006461;protein complex assembly;TAS|GO:0009967;positive regulation of signal transduction;IEA	GO:0005829;cytosol;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3BGR			https://www.ncbi.nlm.nih.gov/omim/?term=602230	http://www.informatics.jax.org/searchtool/Search.do?query=SH3BGR&submit=Quick%0D%15415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BGR	rs4818040	0.549521	0	0	1	0	0	intronic	intronic	intronic	SH3BGR	SH3BGR	ENSG00000185437	Na	Na	Na	Na	Na	Na	Het;G>T	56;1|4	Hom;G>T	108;0|5
N	N	-	21	40880881	40880886	CTTGAA	C	indel	intronic	 	 	 	 	SH3BGR	Sh3bgr	ENSG00000185437	SH3 domain binding glutamate rich protein	chr21:40817781-40887433		obesity; Glucose	 		GO:0006461;protein complex assembly;TAS|GO:0009967;positive regulation of signal transduction;IEA	GO:0005829;cytosol;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3BGR			https://www.ncbi.nlm.nih.gov/omim/?term=602230	http://www.informatics.jax.org/searchtool/Search.do?query=SH3BGR&submit=Quick%0D%15415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BGR	rs138818478	0.432109	0	0.5056	1	0	0	intronic	intronic	intronic	SH3BGR	SH3BGR	ENSG00000185437	Na	Na	Na	Na	Na	Na	Het;-TTGAA	5802;168|153	Hom;-TTGAA	6878;2|244
N	N	-	21	40883671	40883671	G	GAGA	indel	nonframeshift substitution	689_689delinsGAGA	 	 	 	SH3BGR	Sh3bgr	ENSG00000185437	SH3 domain binding glutamate rich protein	chr21:40817781-40887433		obesity; Glucose	 		GO:0006461;protein complex assembly;TAS|GO:0009967;positive regulation of signal transduction;IEA	GO:0005829;cytosol;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3BGR			https://www.ncbi.nlm.nih.gov/omim/?term=602230	http://www.informatics.jax.org/searchtool/Search.do?query=SH3BGR&submit=Quick%0D%15415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BGR	rs111921581	0	0.5513	0.5921	1	0	0	exonic	exonic	exonic	SH3BGR	SH3BGR	ENSG00000185437	nonframeshift substitution	nonframeshift substitution	unknown	SH3BGR:NM_007341:exon6:c.689_689delinsGAGA,SH3BGR:NM_001001713:exon6:c.356_356delinsGAGA,	SH3BGR:uc002yya.3:exon6:c.689_689delinsGAGA,SH3BGR:uc002yxz.3:exon6:c.356_356delinsGAGA,	UNKNOWN	Het;+AGA	943;23|25	Hom;+AGA	1419;0|33
N	N	-	21	40969621	40969621	C	T	snp	ncRNA_exonic	 	 	 	 	B3GALT5-AS1																		rs661650	0.205072	0	0.2904	1	0	0	ncRNA_exonic	UTR3	UTR3	B3GALT5-AS1	C21orf88(uc010gok.4:c.*10G>A)	ENSG00000184809(ENST00000380612:c.*10G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	869;43|43	Hom;C>T	2614;0|101
N	N	-	21	40977826	40977826	A	G	snp	ncRNA_exonic	 	 	 	 	B3GALT5-AS1																		rs506382	0.603634	0	0	1	0	0	ncRNA_exonic	intronic	UTR3	B3GALT5-AS1	B3GALT5,C21orf88	ENSG00000184809(ENST00000329618:c.*331T>C,ENST00000380604:c.*61T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	438;56|22	Hom;A>G	1539;0|56
N	N	-	21	41514421	41514421	G	C	snp	intronic	 	 	 	 	DSCAM	Dscam	ENSG00000171587	DS cell adhesion molecule	chr21:41382926-42219065	This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Echocardiography; bipolar disorder; Carcinoma, Non-Small-Cell Lung; Tobacco Use Disorder; Calcium; Arthritis, Rheumatoid; Neutrophils; Celiac Disease|; Sleep; Follicle Stimulating Hormone; Respiratory Function Tests; Hemoglobin A, Glycosylated	Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia.	DSCAM interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007162;negative regulation of cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007626;locomotory behavior;IEA|GO:0010842;retina layer formation;ISS|GO:0042327;positive regulation of phosphorylation;IDA|GO:0048813;dendrite morphogenesis;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IDA|GO:0060060;post-embryonic retina morphogenesis in camera-type eye;IEA|GO:0060219;camera-type eye photoreceptor cell differentiation;ISS|GO:0070593;dendrite self-avoidance;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DSCAM			https://www.ncbi.nlm.nih.gov/omim/?term=602523	http://www.informatics.jax.org/searchtool/Search.do?query=DSCAM&submit=Quick%0D%12968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAM	rs11701139	0.385583	0	0	1	0	0	intronic	intronic	intronic	DSCAM	DSCAM	ENSG00000171587	Na	Na	Na	Na	Na	Na	Het;G>C	777;29|33	Hom;G>C	1679;0|54
N	N	-	21	41514688	41514689	TA	T	indel	intronic	 	 	 	 	DSCAM	Dscam	ENSG00000171587	DS cell adhesion molecule	chr21:41382926-42219065	This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Echocardiography; bipolar disorder; Carcinoma, Non-Small-Cell Lung; Tobacco Use Disorder; Calcium; Arthritis, Rheumatoid; Neutrophils; Celiac Disease|; Sleep; Follicle Stimulating Hormone; Respiratory Function Tests; Hemoglobin A, Glycosylated	Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia.	DSCAM interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007162;negative regulation of cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007626;locomotory behavior;IEA|GO:0010842;retina layer formation;ISS|GO:0042327;positive regulation of phosphorylation;IDA|GO:0048813;dendrite morphogenesis;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IDA|GO:0060060;post-embryonic retina morphogenesis in camera-type eye;IEA|GO:0060219;camera-type eye photoreceptor cell differentiation;ISS|GO:0070593;dendrite self-avoidance;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DSCAM			https://www.ncbi.nlm.nih.gov/omim/?term=602523	http://www.informatics.jax.org/searchtool/Search.do?query=DSCAM&submit=Quick%0D%12968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAM	rs35155500	0.736821	0	0	1	0	0	intronic	intronic	intronic	DSCAM	DSCAM	ENSG00000171587	Na	Na	Na	Na	Na	Na	Het;-A	2429;72|79	Hom;-A	3793;1|104
N	N	-	21	41516322	41516322	T	G	snp	intronic	 	 	 	 	DSCAM	Dscam	ENSG00000171587	DS cell adhesion molecule	chr21:41382926-42219065	This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Echocardiography; bipolar disorder; Carcinoma, Non-Small-Cell Lung; Tobacco Use Disorder; Calcium; Arthritis, Rheumatoid; Neutrophils; Celiac Disease|; Sleep; Follicle Stimulating Hormone; Respiratory Function Tests; Hemoglobin A, Glycosylated	Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia.	DSCAM interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007162;negative regulation of cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007626;locomotory behavior;IEA|GO:0010842;retina layer formation;ISS|GO:0042327;positive regulation of phosphorylation;IDA|GO:0048813;dendrite morphogenesis;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IDA|GO:0060060;post-embryonic retina morphogenesis in camera-type eye;IEA|GO:0060219;camera-type eye photoreceptor cell differentiation;ISS|GO:0070593;dendrite self-avoidance;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DSCAM			https://www.ncbi.nlm.nih.gov/omim/?term=602523	http://www.informatics.jax.org/searchtool/Search.do?query=DSCAM&submit=Quick%0D%12968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAM	rs2297265	0.389377	0	0	1	0	0	intronic	intronic	intronic	DSCAM	DSCAM	ENSG00000171587	Na	Na	Na	Na	Na	Na	Het;T>G	97;12|6	Hom;T>G	337;0|11
N	N	-	21	41755231	41755231	C	A	snp	ncRNA_exonic	 	 	 	 	DSCAM-AS1																		rs2017995	0.451677	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DSCAM-AS1	DSCAM-AS1	ENSG00000235123	Na	Na	Na	Na	Na	Na	Het;C>A	85;4|4	Hom;C>A	454;0|15
N	N	-	21	41755499	41755499	C	G	snp	ncRNA_exonic	 	 	 	 	DSCAM-AS1																		rs2837597	0.459465	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DSCAM-AS1	DSCAM-AS1	ENSG00000235123	Na	Na	Na	Na	Na	Na	Het;C>G	1836;75|80	Hom;C>G	3885;3|141
N	N	-	21	41757196	41757196	C	T	snp	ncRNA_exonic	 	 	 	 	DSCAM-AS1																		rs2837599	0.739417	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DSCAM-AS1	DSCAM-AS1	ENSG00000235123	Na	Na	Na	Na	Na	Na	Het;C>T	911;31|40	Hom;C>T	1195;0|42
N	N	-	21	42369070	42369070	T	C	snp	intergenic	 	 	 	 	YRDCP3																		rs8133497	0.618411	0	0	1	0	0	intergenic	intergenic	intergenic	DSCAM(dist=150031),LINC00323(dist=144357)	DSCAM(dist=150031),LINC00323(dist=144357)	ENSG00000230859(dist=132671),ENSG00000226496(dist=144357)	Na	Na	Na	Na	Na	Na	Het;T>C	638;53|35	Hom;T>C	2614;0|98
N	N	-	21	42749189	42749189	A	G	snp	intronic	 	 	 	 	MX2	 	ENSG00000183486	MX dynamin like GTPase 2	chr21:42733870-42781317	The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008]	Melanoma; Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Cataplexy|Narcolepsy; Magnesium	Mx1+ strains do not express MX2 protein. The Mx2 gene in BALB/cJ and CBA/J is interrupted by an open reading frame mutation. Mutagenesis correcting the frameshift permits Mx2 expression in 3T3 cells. This protein did not inhibit influenza virus but conferred resistance to vesicular stomatitis virus.	Interferon alpha/beta signaling	GO:0000266;mitochondrial fission;IBA|GO:0002376;immune system process;IEA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006810;transport;IEA|GO:0006952;defense response;TAS|GO:0009615;response to virus;IDA|GO:0015031;protein transport;IEA|GO:0035455;response to interferon-alpha;IDA|GO:0045087;innate immune response;IEA|GO:0046822;regulation of nucleocytoplasmic transport;IMP|GO:0051028;mRNA transport;IEA|GO:0051607;defense response to virus;IEA|GO:0051726;regulation of cell cycle;IMP|GO:0060337;type I interferon signaling pathway;TAS|GO:0061025;membrane fusion;IBA	GO:0005634;nucleus;TAS|GO:0005643;nuclear pore;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031966;mitochondrial membrane;IBA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MX2			https://www.ncbi.nlm.nih.gov/omim/?term=147890	http://www.informatics.jax.org/searchtool/Search.do?query=MX2&submit=Quick%0D%14999ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MX2	rs379839	0.59405	0	0	1	0	0	intronic	intronic	intronic	MX2	MX2	ENSG00000183486	Na	Na	Na	Na	Na	Na	Het;A>G	104;5|4	Hom;A>G	327;0|9
N	N	-	21	43099472	43099472	C	CTTTCCACATACGAA	indel	ncRNA_exonic	 	 	 	 	LINC00111																		rs11273403	0.59385	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00111	LINC00111	ENSG00000227702	Na	Na	Na	Na	Na	Na	Het;+TTTCCACATACGAA	581;20|14	Hom;+TTTCCACATACGAA	2563;0|48
N	N	-	21	43160908	43160908	A	G	snp	UTR3	*90T>C	 	 	 	RIPK4	Ripk4	ENSG00000183421	receptor interacting serine/threonine kinase 4	chr21:43159529-43187266	The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis.		GO:0002009;morphogenesis of an epithelium;IMP|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIPK4		https://hpo.jax.org/app/browse/search?q=RIPK4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605706	http://www.informatics.jax.org/searchtool/Search.do?query=RIPK4&submit=Quick%0D%14986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIPK4	rs6586232	0.769169	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	RIPK4(NM_020639:c.*90T>C)	RIPK4(uc002yzn.1:c.*90T>C)	ENSG00000236883	Na	Na	Na	Na	Na	Na	Het;A>G	855;35|36	Hom;A>G	1432;0|49
N	N	-	21	43161357	43161357	T	C	snp	nonsynonymous SNV	A1996G	M666V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	RIPK4	Ripk4	ENSG00000183421	receptor interacting serine/threonine kinase 4	chr21:43159529-43187266	The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis.		GO:0002009;morphogenesis of an epithelium;IMP|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIPK4		https://hpo.jax.org/app/browse/search?q=RIPK4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605706	http://www.informatics.jax.org/searchtool/Search.do?query=RIPK4&submit=Quick%0D%14986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIPK4	rs3746891	0.956869	0.9802	0.9652	0.08	1	13	exonic	exonic	exonic	RIPK4	RIPK4	ENSG00000183421	nonsynonymous SNV	nonsynonymous SNV	unknown	RIPK4:NM_020639:exon8:c.A1996G:p.M666V,	RIPK4:uc002yzn.1:exon8:c.A1996G:p.M666V,	UNKNOWN	Het;T>C	2425;114|112	Hom;T>C	5586;0|198
N	N	-	21	43161805	43161805	G	A	snp	synonymous SNV	C1548T	D516D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	RIPK4	Ripk4	ENSG00000183421	receptor interacting serine/threonine kinase 4	chr21:43159529-43187266	The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis.		GO:0002009;morphogenesis of an epithelium;IMP|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIPK4		https://hpo.jax.org/app/browse/search?q=RIPK4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605706	http://www.informatics.jax.org/searchtool/Search.do?query=RIPK4&submit=Quick%0D%14986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIPK4	rs2838113	0.53095	0.5144	0.6020	1	0	0	exonic	exonic	exonic	RIPK4	RIPK4	ENSG00000183421	synonymous SNV	synonymous SNV	unknown	RIPK4:NM_020639:exon8:c.C1548T:p.D516D,	RIPK4:uc002yzn.1:exon8:c.C1548T:p.D516D,	UNKNOWN	Het;G>A	1867;104|88	Hom;G>A	3253;3|123
N	N	-	21	43164345	43164345	A	C	snp	intronic	 	 	 	 	RIPK4	Ripk4	ENSG00000183421	receptor interacting serine/threonine kinase 4	chr21:43159529-43187266	The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis.		GO:0002009;morphogenesis of an epithelium;IMP|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIPK4		https://hpo.jax.org/app/browse/search?q=RIPK4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605706	http://www.informatics.jax.org/searchtool/Search.do?query=RIPK4&submit=Quick%0D%14986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIPK4	rs2277790	0.682708	0.7221	0.6931	1	0	0	intronic	intronic	intronic	RIPK4	RIPK4	ENSG00000183421	Na	Na	Na	Na	Na	Na	Het;A>C	232;5|10	Hom;A>C	492;0|15
N	N	-	21	43242207	43242207	G	A	snp	intronic	 	 	 	 	PRDM15	Prdm15	ENSG00000141956	PR/SET domain 15	chr21:43218385-43299591		tanning	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032259;methylation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDM15	https://www.uniprot.org/uniprot/P57071			http://www.informatics.jax.org/searchtool/Search.do?query=PRDM15&submit=Quick%0D%8234ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM15	rs28360603	0.345248	0.3739	0	1	0	0	intronic	intronic	intronic	PRDM15	PRDM15	ENSG00000141956	Na	Na	Na	Na	Na	Na	Het;G>A	857;40|38	Hom;G>A	1776;0|63
N	N	-	21	43444513	43444513	T	C	snp	ncRNA_exonic	 	 	 	 	ZNF295-AS1																		rs220220	0.780751	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ZNF295-AS1	ZNF295-AS1(uc011aeu.1:c.*1991T>C)	ENSG00000237232	Na	Na	Na	Na	Na	Na	Het;T>C	3373;135|158	Hom;T>C	10143;0|366
N	N	-	21	43504228	43504228	T	C	snp	synonymous SNV	T138C	P46P	hydrophobic,neutral	hydrophobic,neutral	UMODL1	Umodl1	ENSG00000177398	uromodulin like 1	chr21:43483068-43563563		Fibrinogen; Myopia; Tobacco Use Disorder	 		GO:0007338;single fertilization;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010468;regulation of gene expression;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0048609;multicellular organismal reproductive process;IEA|GO:0060612;adipose tissue development;IEA|GO:0097211;cellular response to gonadotropin-releasing hormone;IEA|GO:2000354;regulation of ovarian follicle development;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UMODL1			https://www.ncbi.nlm.nih.gov/omim/?term=613859	http://www.informatics.jax.org/searchtool/Search.do?query=UMODL1&submit=Quick%0D%14016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UMODL1	rs7278485	0.667332	0.6720	0.6431	1	0	0	exonic	exonic	exonic	UMODL1	UMODL1	ENSG00000177398	synonymous SNV	synonymous SNV	unknown	UMODL1:NM_001004416:exon3:c.T354C:p.P118P,UMODL1:NM_001199527:exon3:c.T138C:p.P46P,UMODL1:NM_001199528:exon3:c.T138C:p.P46P,UMODL1:NM_173568:exon3:c.T354C:p.P118P,	UMODL1:uc002zad.1:exon3:c.T138C:p.P46P,UMODL1:uc002zaf.1:exon3:c.T354C:p.P118P,UMODL1:uc002zag.1:exon3:c.T354C:p.P118P,UMODL1:uc002zae.1:exon3:c.T138C:p.P46P,	UNKNOWN	Het;T>C	1447;53|68	Hom;T>C	3057;0|110
N	N	-	21	43531848	43531848	C	T	snp	intronic	 	 	 	 	UMODL1	Umodl1	ENSG00000177398	uromodulin like 1	chr21:43483068-43563563		Fibrinogen; Myopia; Tobacco Use Disorder	 		GO:0007338;single fertilization;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010468;regulation of gene expression;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0048609;multicellular organismal reproductive process;IEA|GO:0060612;adipose tissue development;IEA|GO:0097211;cellular response to gonadotropin-releasing hormone;IEA|GO:2000354;regulation of ovarian follicle development;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UMODL1			https://www.ncbi.nlm.nih.gov/omim/?term=613859	http://www.informatics.jax.org/searchtool/Search.do?query=UMODL1&submit=Quick%0D%14016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UMODL1	rs220131	0.387181	0.4158	0.4907	1	0	0	intronic	intronic	intronic	UMODL1	UMODL1	ENSG00000177398	Na	Na	Na	Na	Na	Na	Het;C>T	651;35|31	Hom;C>T	1490;0|52
N	N	-	21	43541478	43541480	CGT	C	indel	intronic	 	 	 	 	UMODL1	Umodl1	ENSG00000177398	uromodulin like 1	chr21:43483068-43563563		Fibrinogen; Myopia; Tobacco Use Disorder	 		GO:0007338;single fertilization;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010468;regulation of gene expression;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0048609;multicellular organismal reproductive process;IEA|GO:0060612;adipose tissue development;IEA|GO:0097211;cellular response to gonadotropin-releasing hormone;IEA|GO:2000354;regulation of ovarian follicle development;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UMODL1			https://www.ncbi.nlm.nih.gov/omim/?term=613859	http://www.informatics.jax.org/searchtool/Search.do?query=UMODL1&submit=Quick%0D%14016ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UMODL1	rs67090851	0.210264	0	0	1	0	0	intronic	intronic	intronic	UMODL1	UMODL1	ENSG00000177398	Na	Na	Na	Na	Na	Na	Het;-GT	55;3|3	Hom;-GT	127;0|4
N	N	-	21	43732425	43732425	C	T	snp	intronic	 	 	 	 	TFF3	Tff3	ENSG00000160180	trefoil factor 3	chr21:43731777-43735761	Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]	lung cancer ; bladder cancer; chronic obstructive pulmonary disease; lung cancer	Homozygous mutation of this gene results in impaired intestinal mucosal healing and death from colitis after administration of dextran sulfate sodium. Mice show poor epithelial regeneration after injury.		GO:0010906;regulation of glucose metabolic process;IEA	GO:0030141;secretory granule;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TFF3			https://www.ncbi.nlm.nih.gov/omim/?term=600633	http://www.informatics.jax.org/searchtool/Search.do?query=TFF3&submit=Quick%0D%10410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TFF3	rs533093	0.220248	0.3032	0.3278	1	0	0	intronic	intronic	intronic	TFF3	TFF3	ENSG00000160180	Na	Na	Na	Na	Na	Na	Het;C>T	892;31|41	Hom;C>T	2024;0|76
N	N	-	21	43862466	43862466	G	A	snp	intronic	 	 	 	 	UBASH3A	Ubash3a	ENSG00000160185	ubiquitin associated and SH3 domain containing A	chr21:43824008-43867791	This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Vitiligo; Autoimmune Diseases|melanoma|Vitiligo; type 1 diabetes; Hemoglobins; Autoimmune Diseases; Eosinophils; diabetes, type 1 ; Arthritis, Rheumatoid; Diabetes Mellitus, Type 1; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1	Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages.		GO:0001817;regulation of cytokine production;IEA|GO:0050860;negative regulation of T cell receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBASH3A			https://www.ncbi.nlm.nih.gov/omim/?term=605736	http://www.informatics.jax.org/searchtool/Search.do?query=UBASH3A&submit=Quick%0D%10414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBASH3A	rs2254368	0.496206	0	0	1	0	0	intronic	intronic	intronic	UBASH3A	UBASH3A	ENSG00000160185	Na	Na	Na	Na	Na	Na	Het;G>A	193;3|7	Hom;G>A	396;1|13
N	N	-	21	43864519	43864519	G	A	snp	intronic	 	 	 	 	UBASH3A	Ubash3a	ENSG00000160185	ubiquitin associated and SH3 domain containing A	chr21:43824008-43867791	This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Vitiligo; Autoimmune Diseases|melanoma|Vitiligo; type 1 diabetes; Hemoglobins; Autoimmune Diseases; Eosinophils; diabetes, type 1 ; Arthritis, Rheumatoid; Diabetes Mellitus, Type 1; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1	Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages.		GO:0001817;regulation of cytokine production;IEA|GO:0050860;negative regulation of T cell receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBASH3A			https://www.ncbi.nlm.nih.gov/omim/?term=605736	http://www.informatics.jax.org/searchtool/Search.do?query=UBASH3A&submit=Quick%0D%10414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBASH3A	rs4920104	0.487021	0	0	1	0	0	intronic	intronic	intronic	UBASH3A	UBASH3A	ENSG00000160185	Na	Na	Na	Na	Na	Na	Het;G>A	135;4|6	Hom;G>A	185;0|6
N	N	-	21	43987329	43987329	G	C	snp	intronic	 	 	 	 	SLC37A1	Slc37a1	ENSG00000160190	solute carrier family 37 member 1	chr21:43916118-44001550	The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Magnesium; Lipoproteins, HDL; Creatinine; CD40 Ligand; Atrial Natriuretic Factor; Body Weight	 	Gluconeogenesis	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA	GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC37A1			https://www.ncbi.nlm.nih.gov/omim/?term=608094	http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A1&submit=Quick%0D%10416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A1	rs9979646	0.545727	0	0	1	0	0	intronic	intronic	intronic	SLC37A1	SLC37A1	ENSG00000160190	Na	Na	Na	Na	Na	Na	Het;G>C	50;2|2	Hom;G>C	197;0|5
N	N	-	21	44778478	44778478	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01679																		rs587329	0.726637	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00322(dist=26559),SIK1(dist=55920)	CRYAA(dist=185565),SIK1(dist=55920)	ENSG00000237989	Na	Na	Na	Na	Na	Na	Het;A>G	1239;40|52	Hom;A>G	1923;0|52
N	N	-	21	44779082	44779082	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01679																		rs579870	0.811302	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00322(dist=27163),SIK1(dist=55316)	CRYAA(dist=186169),SIK1(dist=55316)	ENSG00000237989	Na	Na	Na	Na	Na	Na	Het;C>T	1635;71|77	Hom;C>T	2863;3|105
N	N	-	21	44779138	44779138	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01679																		rs580007	0.683107	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00322(dist=27219),SIK1(dist=55260)	CRYAA(dist=186225),SIK1(dist=55260)	ENSG00000237989	Na	Na	Na	Na	Na	Na	Het;C>T	1864;76|82	Hom;C>T	3394;2|126
N	N	-	21	44781444	44781444	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01679																		rs554253	0.806709	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00322(dist=29525),SIK1(dist=52954)	CRYAA(dist=188531),SIK1(dist=52954)	ENSG00000237989	Na	Na	Na	Na	Na	Na	Het;T>C	644;63|34	Hom;T>C	2508;1|96
N	N	-	21	44781984	44781984	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01679																		rs559480	0.807308	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00322(dist=30065),SIK1(dist=52414)	CRYAA(dist=189071),SIK1(dist=52414)	ENSG00000237989	Na	Na	Na	Na	Na	Na	Het;T>C	1927;59|83	Hom;T>C	3440;0|125
N	N	-	21	44782051	44782051	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01679																		rs559652	0.803315	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00322(dist=30132),SIK1(dist=52347)	CRYAA(dist=189138),SIK1(dist=52347)	ENSG00000237989	Na	Na	Na	Na	Na	Na	Het;T>C	2088;74|92	Hom;T>C	4366;0|156
N	N	-	21	45078035	45078035	C	T	snp	UTR5	-13800G>A	 	 	 	HSF2BP	Hsf2bp	ENSG00000160207	heat shock transcription factor 2 binding protein	chr21:44949072-45079374	HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 		GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HSF2BP			https://www.ncbi.nlm.nih.gov/omim/?term=604554	http://www.informatics.jax.org/searchtool/Search.do?query=HSF2BP&submit=Quick%0D%10424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF2BP	rs2838343	0.634585	0	0	1	0	0	UTR5	UTR5	UTR5	HSF2BP(NM_007031:c.-58G>A)	HSF2BP(uc011aey.2:c.-13800G>A,uc002zdi.3:c.-58G>A)	ENSG00000160207(ENST00000291560:c.-58G>A,ENST00000443485:c.-58G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	108;2|5	Hom;C>T	71;0|4
N	N	-	21	45169005	45169005	A	G	snp	intronic	 	 	 	 	PDXK	Pdxk	ENSG00000160209	pyridoxal kinase	chr21:45138975-45182188	The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	several psychiatric disorders; Parkinson's disease; Parkinson's disease 	 	Vitamins B6 activation to pyridoxal phosphate	GO:0008283;cell proliferation;IDA|GO:0009443;pyridoxal 5'-phosphate salvage;IEA|GO:0016310;phosphorylation;IEA|GO:0042816;vitamin B6 metabolic process;TAS|GO:0042823;pyridoxal phosphate biosynthetic process;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0008283;cell proliferation;IDA|GO:0009443;pyridoxal 5'-phosphate salvage;IEA|GO:0016310;phosphorylation;IEA|GO:0042816;vitamin B6 metabolic process;TAS|GO:0042823;pyridoxal phosphate biosynthetic process;IDA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0005524;ATP binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0008478;pyridoxal kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0030955;potassium ion binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0031403;lithium ion binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDXK	https://www.uniprot.org/uniprot/O00764		https://www.ncbi.nlm.nih.gov/omim/?term=179020	http://www.informatics.jax.org/searchtool/Search.do?query=PDXK&submit=Quick%0D%194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDXK	rs9974827	0.394968	0.3415	0.3876	1	0	0	intronic	intronic	intronic	PDXK	PDXK	ENSG00000160209	Na	Na	Na	Na	Na	Na	Het;A>G	243;15|11	Hom;A>G	378;0|14
N	N	-	21	45172628	45172628	G	A	snp	intronic	 	 	 	 	PDXK	Pdxk	ENSG00000160209	pyridoxal kinase	chr21:45138975-45182188	The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	several psychiatric disorders; Parkinson's disease; Parkinson's disease 	 	Vitamins B6 activation to pyridoxal phosphate	GO:0008283;cell proliferation;IDA|GO:0009443;pyridoxal 5'-phosphate salvage;IEA|GO:0016310;phosphorylation;IEA|GO:0042816;vitamin B6 metabolic process;TAS|GO:0042823;pyridoxal phosphate biosynthetic process;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0008283;cell proliferation;IDA|GO:0009443;pyridoxal 5'-phosphate salvage;IEA|GO:0016310;phosphorylation;IEA|GO:0042816;vitamin B6 metabolic process;TAS|GO:0042823;pyridoxal phosphate biosynthetic process;IDA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0005524;ATP binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0008478;pyridoxal kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0030955;potassium ion binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0031403;lithium ion binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDXK	https://www.uniprot.org/uniprot/O00764		https://www.ncbi.nlm.nih.gov/omim/?term=179020	http://www.informatics.jax.org/searchtool/Search.do?query=PDXK&submit=Quick%0D%194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDXK	rs2010795	0.360823	0	0	1	0	0	intronic	intronic	intronic	PDXK	PDXK	ENSG00000160209	Na	Na	Na	Na	Na	Na	Het;G>A	227;4|8	Hom;G>A	446;0|14
N	N	-	21	45175958	45175958	T	C	snp	UTR3	*14T>C	 	 	 	PDXK	Pdxk	ENSG00000160209	pyridoxal kinase	chr21:45138975-45182188	The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	several psychiatric disorders; Parkinson's disease; Parkinson's disease 	 	Vitamins B6 activation to pyridoxal phosphate	GO:0008283;cell proliferation;IDA|GO:0009443;pyridoxal 5'-phosphate salvage;IEA|GO:0016310;phosphorylation;IEA|GO:0042816;vitamin B6 metabolic process;TAS|GO:0042823;pyridoxal phosphate biosynthetic process;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0008283;cell proliferation;IDA|GO:0009443;pyridoxal 5'-phosphate salvage;IEA|GO:0016310;phosphorylation;IEA|GO:0042816;vitamin B6 metabolic process;TAS|GO:0042823;pyridoxal phosphate biosynthetic process;IDA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0005524;ATP binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0008478;pyridoxal kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0030955;potassium ion binding;IDA|GO:0031402;sodium ion binding;IDA|GO:0031403;lithium ion binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDXK	https://www.uniprot.org/uniprot/O00764		https://www.ncbi.nlm.nih.gov/omim/?term=179020	http://www.informatics.jax.org/searchtool/Search.do?query=PDXK&submit=Quick%0D%194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDXK	rs7527	0.58147	0.4784	0.5696	1	0	0	UTR3	UTR3	UTR3	PDXK(NM_003681:c.*14T>C)	PDXK(uc002zdm.4:c.*14T>C,uc002zdn.4:c.*14T>C)	ENSG00000160209(ENST00000468090:c.*14T>C,ENST00000291565:c.*14T>C,ENST00000467908:c.*14T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1079;44|50	Hom;T>C	2457;0|87
N	N	-	21	45712977	45712977	T	C	snp	synonymous SNV	T819C	A273A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AIRE	Aire	ENSG00000160224	autoimmune regulator	chr21:45705721-45718531	This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]	Vitiligo; hypoparathyroidism; Addison Disease|Candidiasis|Hypoparathyroidism|Polyendocrinopathies, Autoimmune; Arthritis, Rheumatoid; autoimmune; polyendocrinopathy-candidiasis-ectodermal dystrophy; polyendocrinopathy-candidiasis-ectodermal; dystrophy, autoimmune; Addison Disease|Polyendocrinopathies, Autoimmune|Syndrome; melanoma; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Triglycerides; diabetes, type 1 ; diabetes, type 1; sclerosis, systemic; Hypercholesterolemia|LDLC levels; diabetes, type 1; Addison's disease; Graves; thyroiditis, Hashimoto; Autoimmune Diseases|Skin Diseases, Genetic|Vitiligo; Hepatitis, Autoimmune; Polyendocrinopathies, Autoimmune; Alopecia Areata|Autoimmune Diseases|Polyendocrinopathies, Autoimmune; alopecia areata; Hypoparathyroidism|Polyendocrinopathies, Autoimmune	Targeted mutations that inactivate the gene result in immune system dysfunction characterized by multiorgan lymphocytic infiltration and circulating autoantibodies. Whereas one line is fertile, another exhibits male and female sterility.		GO:0002458;peripheral T cell tolerance induction;IEA|GO:0002509;central tolerance induction to self antigen;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006417;regulation of translation;IEA|GO:0006955;immune response;TAS|GO:0006959;humoral immune response;IEA|GO:0032602;chemokine production;IEA|GO:0045060;negative thymic T cell selection;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0097536;thymus epithelium morphogenesis;IEA|GO:2000410;regulation of thymocyte migration;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0045182;translation regulator activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIRE		https://hpo.jax.org/app/browse/search?q=AIRE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607358	http://www.informatics.jax.org/searchtool/Search.do?query=AIRE&submit=Quick%0D%10434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIRE	rs1800521	0.35623	0.3935	0.3780	1	0	0	exonic	exonic	exonic	AIRE	AIRE	ENSG00000160224	synonymous SNV	synonymous SNV	unknown	AIRE:NM_000383:exon10:c.T1197C:p.A399A,	AIRE:uc031rvv.1:exon3:c.T819C:p.A273A,AIRE:uc002zej.3:exon4:c.T606C:p.A202A,AIRE:uc002zei.3:exon10:c.T1197C:p.A399A,	UNKNOWN	Het;T>C	1082;70|54	Hom;T>C	2541;0|97
N	N	-	21	45854925	45854925	G	A	snp	intronic	 	 	 	 	TRPM2	Trpm2	ENSG00000142185	transient receptor potential cation channel subfamily M member 2	chr21:45770046-45862964	The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]	bipolar disorder; Bipolar Disorder; Type 2 diabetes	Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model.	Neutrophil degranulation	GO:0001659;temperature homeostasis;ISS|GO:0002407;dendritic cell chemotaxis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006828;manganese ion transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0009408;response to heat;IEA|GO:0014074;response to purine-containing compound;IMP|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035584;calcium-mediated signaling using intracellular calcium source;ISS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044849;estrous cycle;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051489;regulation of filopodium assembly;IMP|GO:0055085;transmembrane transport;IEA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071277;cellular response to calcium ion;IMP|GO:0071415;cellular response to purine-containing compound;ISS|GO:0071421;manganese ion transmembrane transport;IEA|GO:0071502;cellular response to temperature stimulus;ISS|GO:0071577;zinc II ion transmembrane transport;IMP|GO:0097028;dendritic cell differentiation;ISS|GO:0097553;calcium ion transmembrane import into cytosol;IMP|GO:0098655;cation transmembrane transport;IEA|GO:0098703;calcium ion import across plasma membrane;ISS|GO:1903223;positive regulation of oxidative stress-induced neuron death;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0035579;specific granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IMP|GO:0005262;calcium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0005384;manganese ion transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IMP|GO:0015278;calcium-release channel activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0047631;ADP-ribose diphosphatase activity;IEA|GO:0099604;ligand-gated calcium channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRPM2	https://www.uniprot.org/uniprot/O94759		https://www.ncbi.nlm.nih.gov/omim/?term=603749	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM2&submit=Quick%0D%8258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM2	rs41277556	0.717851	0	0	1	0	0	intronic	intronic	intronic	TRPM2	TRPM2	ENSG00000142185	Na	Na	Na	Na	Na	Na	Het;G>A	176;12|10	Hom;G>A	332;1|14
N	N	-	21	45862093	45862093	G	A	snp	UTR3	*393G>A	 	 	 	TRPM2	Trpm2	ENSG00000142185	transient receptor potential cation channel subfamily M member 2	chr21:45770046-45862964	The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]	bipolar disorder; Bipolar Disorder; Type 2 diabetes	Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model.	Neutrophil degranulation	GO:0001659;temperature homeostasis;ISS|GO:0002407;dendritic cell chemotaxis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006828;manganese ion transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0009408;response to heat;IEA|GO:0014074;response to purine-containing compound;IMP|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035584;calcium-mediated signaling using intracellular calcium source;ISS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044849;estrous cycle;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051489;regulation of filopodium assembly;IMP|GO:0055085;transmembrane transport;IEA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071277;cellular response to calcium ion;IMP|GO:0071415;cellular response to purine-containing compound;ISS|GO:0071421;manganese ion transmembrane transport;IEA|GO:0071502;cellular response to temperature stimulus;ISS|GO:0071577;zinc II ion transmembrane transport;IMP|GO:0097028;dendritic cell differentiation;ISS|GO:0097553;calcium ion transmembrane import into cytosol;IMP|GO:0098655;cation transmembrane transport;IEA|GO:0098703;calcium ion import across plasma membrane;ISS|GO:1903223;positive regulation of oxidative stress-induced neuron death;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IMP	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0035579;specific granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IMP|GO:0005262;calcium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0005384;manganese ion transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IMP|GO:0015278;calcium-release channel activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0047631;ADP-ribose diphosphatase activity;IEA|GO:0099604;ligand-gated calcium channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRPM2	https://www.uniprot.org/uniprot/O94759		https://www.ncbi.nlm.nih.gov/omim/?term=603749	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM2&submit=Quick%0D%8258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM2	rs9975657	0.718251	0	0	1	0	0	UTR3	UTR3	UTR3	TRPM2(NM_003307:c.*393G>A)	TRPM2(uc002zet.1:c.*393G>A,uc002zeu.1:c.*393G>A,uc002zew.1:c.*393G>A,uc010gpt.1:c.*393G>A,uc002zex.1:c.*393G>A,uc002zey.1:c.*393G>A,uc011aff.1:c.*393G>A)	ENSG00000142185(ENST00000300482:c.*393G>A,ENST00000397928:c.*393G>A,ENST00000300481:c.*393G>A,ENST00000397932:c.*393G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1090;65|52	Hom;G>A	2718;0|100
N	N	-	21	45870975	45870975	T	C	snp	ncRNA_exonic	 	 	 	 	LRRC3-AS1																		rs11088953	0.8125	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LRRC3-AS1	LRRC3-AS1	ENSG00000229356	Na	Na	Na	Na	Na	Na	Het;T>C	1871;63|85	Hom;T>C	4166;0|153
N	N	-	21	45875045	45875045	C	G	snp	ncRNA_intronic	 	 	 	 	LRRC3-AS1																		rs9978193	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC3-AS1	LRRC3-AS1	ENSG00000229356	Na	Na	Na	Na	Na	Na	Het;C>G	196;10|8	Hom;C>G	831;0|32
N	N	-	21	45978587	45978587	A	G	snp	synonymous SNV	T12C	S4S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KRTAP10-3		ENSG00000212935	keratin associated protein 10-3	chr21:45977673-45978643	This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]			Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP10-3				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP10-3&submit=Quick%0D%18071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP10-3	rs448908	0.209465	0.2673	0.2836	1	0	0	exonic	exonic	exonic	KRTAP10-3	KRTAP10-3	ENSG00000212935	synonymous SNV	synonymous SNV	unknown	KRTAP10-3:NM_198696:exon1:c.T12C:p.S4S,	KRTAP10-3:uc002zfj.1:exon1:c.T12C:p.S4S,	UNKNOWN	Het;A>G	134;2|4	Hom;A>G	152;0|4
N	N	-	21	45978592	45978592	T	C	snp	nonsynonymous SNV	A7G	T3A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KRTAP10-3		ENSG00000212935	keratin associated protein 10-3	chr21:45977673-45978643	This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]			Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP10-3				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP10-3&submit=Quick%0D%18071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP10-3	rs452472	0.213059	0.2745	0.2885	0.08	1	12	exonic	exonic	exonic	KRTAP10-3	KRTAP10-3	ENSG00000212935	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP10-3:NM_198696:exon1:c.A7G:p.T3A,	KRTAP10-3:uc002zfj.1:exon1:c.A7G:p.T3A,	UNKNOWN	Het;T>C	134;2|4	Hom;T>C	152;0|4
N	N	-	21	45979255	45979255	G	A	snp	intronic	 	 	 	 	TSPEAR	Tspear	ENSG00000175894	thrombospondin type laminin G domain and EAR repeats	chr21:45917775-46131495	This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]	Hemoglobin A, Glycosylated; Iron	 		GO:0007605;sensory perception of sound;IMP	GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TSPEAR		https://hpo.jax.org/app/browse/search?q=TSPEAR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612920	http://www.informatics.jax.org/searchtool/Search.do?query=TSPEAR&submit=Quick%0D%13770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPEAR	rs233253	0.874601	0	0	1	0	0	intronic	intronic	intronic	TSPEAR	TSPEAR	ENSG00000175894	Na	Na	Na	Na	Na	Na	Het;G>A	227;2|12	Hom;G>A	385;0|15
N	N	-	21	46074091	46074091	C	T	snp	intronic	 	 	 	 	TSPEAR	Tspear	ENSG00000175894	thrombospondin type laminin G domain and EAR repeats	chr21:45917775-46131495	This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]	Hemoglobin A, Glycosylated; Iron	 		GO:0007605;sensory perception of sound;IMP	GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TSPEAR		https://hpo.jax.org/app/browse/search?q=TSPEAR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612920	http://www.informatics.jax.org/searchtool/Search.do?query=TSPEAR&submit=Quick%0D%13770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPEAR	rs58403526	0.0507188	0	0	1	0	0	intronic	intronic	intronic	TSPEAR	TSPEAR	ENSG00000175894	Na	Na	Na	Na	Na	Na	Het;C>T	148;5|6	Hom;C>T	147;0|5
N	N	-	21	46074565	46074565	C	G	snp	UTR5	-34G>C	 	 	 	KRTAP12-4		ENSG00000212933	keratin associated protein 12-4	chr21:46074130-46074576				Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRTAP12-4				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP12-4&submit=Quick%0D%18070ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP12-4	rs12482041	0.202077	0.2184	0.2817	1	0	0	UTR5	UTR5	UTR5	KRTAP12-4(NM_198698:c.-34G>C)	KRTAP12-4(uc002zfs.1:c.-34G>C)	ENSG00000212933(ENST00000391618:c.-34G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	69;8|4	Hom;C>G	880;0|34
N	N	-	21	46086488	46086488	C	T	snp	nonsynonymous SNV	G316A	V106M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	KRTAP12-2	Gm10142	ENSG00000221864	keratin associated protein 12-2	chr21:46086106-46086844			 	Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRTAP12-2				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP12-2&submit=Quick%0D%18410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP12-2	rs75799438	0.0279553	0.0393	0.0382	0.08	1	12	exonic	exonic	exonic	KRTAP12-2	KRTAP12-2	ENSG00000221864	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP12-2:NM_181684:exon1:c.G316A:p.V106M,	KRTAP12-2:uc002zfu.3:exon1:c.G316A:p.V106M,	UNKNOWN	Het;C>T	3647;137|158	Hom;C>T	8308;27|311
N	N	-	21	46096038	46096038	G	A	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs73234830	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;G>A	224;8|11	Hom;G>A	466;2|20
N	N	-	21	46096157	46096157	C	T	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs17284167	0.0307508	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;C>T	91;22|7	Hom;C>T	409;2|17
N	N	-	21	46096239	46096239	C	A	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs73234831	0.0279553	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;C>A	188;28|12	Hom;C>A	1184;0|29
N	N	-	21	46096293	46096293	C	T	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs17211921	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;C>T	363;40|23	Hom;C>T	1088;0|42
N	N	-	21	46096356	46096356	G	A	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs73234832	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;G>A	502;31|25	Hom;G>A	1240;0|48
N	N	-	21	46096429	46096429	A	G	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs73234833	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;A>G	509;17|14	Hom;A>G	1212;0|28
N	N	-	21	46096434	46096434	C	T	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs73234834	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;C>T	509;16|14	Hom;C>T	1212;0|27
N	N	-	21	46096476	46096476	T	G	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs78577698	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;T>G	342;10|10	Hom;T>G	917;0|21
N	N	-	21	46096484	46096484	T	C	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs78846425	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;T>C	323;9|9	Hom;T>C	1018;0|24
N	N	-	21	46096575	46096575	A	G	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs73234835	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;A>G	510;26|25	Hom;A>G	2023;0|74
N	N	-	21	46096950	46096952	TAA	T	indel	ncRNA_exonic	 	 	 	 	IMMTP1																		rs143486715	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;-AA	479;10|13	Hom;-AA	832;0|19
N	N	-	21	46096961	46096961	T	C	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs117256288	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;T>C	449;8|12	Hom;T>C	799;0|19
N	N	-	21	46096998	46096998	G	C	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs80024589	0.0301518	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;G>C	259;11|14	Hom;G>C	516;0|12
N	N	-	21	46097057	46097057	A	G	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs79184150	0.0299521	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;A>G	187;6|9	Hom;A>G	453;0|17
N	N	-	21	46097641	46097641	A	C	snp	ncRNA_exonic	 	 	 	 	IMMTP1																		rs2838628	0.0449281	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000229880	Na	Na	Na	Na	Na	Na	Het;A>C	1109;38|51	Hom;A>C	2486;0|93
N	N	-	21	46101934	46101934	G	A	snp	synonymous SNV	C105T	C35C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	KRTAP12-1	Gm29802	ENSG00000187175	keratin associated protein 12-1	chr21:46101491-46102078			 	Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRTAP12-1				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP12-1&submit=Quick%0D%15795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP12-1	rs56135164	0.0341454	0.0505	0.0504	1	0	0	exonic	exonic	exonic	KRTAP12-1	KRTAP12-1	ENSG00000187175	synonymous SNV	synonymous SNV	unknown	KRTAP12-1:NM_181686:exon1:c.C105T:p.C35C,	KRTAP12-1:uc002zfv.3:exon1:c.C105T:p.C35C,	UNKNOWN	Het;G>A	4546;255|221	Hom;G>A	11740;4|431
N	N	-	21	46101993	46101993	C	T	snp	nonsynonymous SNV	G46A	A16T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	KRTAP12-1	Gm29802	ENSG00000187175	keratin associated protein 12-1	chr21:46101491-46102078			 	Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRTAP12-1				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP12-1&submit=Quick%0D%15795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP12-1	rs55881656	0.0427316	0.0585	0.0529	0.08	1	12	exonic	exonic	exonic	KRTAP12-1	KRTAP12-1	ENSG00000187175	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP12-1:NM_181686:exon1:c.G46A:p.A16T,	KRTAP12-1:uc002zfv.3:exon1:c.G46A:p.A16T,	UNKNOWN	Het;C>T	3606;186|170	Hom;C>T	7442;4|275
N	N	-	21	46122413	46122413	T	C	snp	ncRNA_exonic	 	 	 	 	KRTAP10-13P																		rs113985571	0.296925	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000236382	Na	Na	Na	Na	Na	Na	Het;T>C	535;22|22	Hom;T>C	1444;0|49
N	N	-	21	46122586	46122586	G	A	snp	ncRNA_exonic	 	 	 	 	KRTAP10-13P																		rs9982940	0.295527	0	0	1	0	0	intronic	intronic	ncRNA_exonic	TSPEAR	TSPEAR	ENSG00000236382	Na	Na	Na	Na	Na	Na	Het;G>A	1334;66|69	Hom;G>A	2590;2|99
N	N	-	21	46424507	46424507	G	T	snp	ncRNA_exonic	 	 	 	 	LINC00162																		rs13047060	0.500998	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00162	LINC00162	ENSG00000224930	Na	Na	Na	Na	Na	Na	Het;G>T	1106;38|47	Hom;G>T	2051;0|69
N	N	-	21	46424569	46424569	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00162																		rs7277744	0.508986	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00162	LINC00162	ENSG00000224930	Na	Na	Na	Na	Na	Na	Het;C>T	1366;51|65	Hom;C>T	2481;2|92
N	N	-	21	46491155	46491155	G	C	snp	ncRNA_exonic	 	 	 	 	SSR4P1																		rs7282639	0.78734	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	SSR4P1	SSR4P1	ENSG00000235374	Na	Na	Na	Na	Na	Na	Het;G>C	1722;81|79	Hom;G>C	5304;0|188
N	N	-	21	46493003	46493003	G	A	snp	ncRNA_exonic	 	 	 	 	SSR4P1																		rs915814	0.393371	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	SSR4P1	SSR4P1	ENSG00000235374	Na	Na	Na	Na	Na	Na	Het;G>A	1072;49|49	Hom;G>A	2237;2|87
N	N	-	21	46825214	46825214	G	C	snp	intronic	 	 	 	 	COL18A1	Col18a1	ENSG00000182871	collagen type XVIII alpha 1 chain	chr21:46825052-46933634	This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis	Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL18A1		https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120328	http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1	rs113272297	0	0	0	1	0	0	intronic	intronic	intronic	COL18A1	COL18A1	ENSG00000182871	Na	Na	Na	Na	Na	Na	Het;G>C	222;2|5	Hom;G>C	602;0|14
N	N	-	21	46825223	46825223	G	C	snp	intronic	 	 	 	 	COL18A1	Col18a1	ENSG00000182871	collagen type XVIII alpha 1 chain	chr21:46825052-46933634	This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis	Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL18A1		https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120328	http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1	rs60499034	0	0	0	1	0	0	intronic	intronic	intronic	COL18A1	COL18A1	ENSG00000182871	Na	Na	Na	Na	Na	Na	Het;G>C	182;1|7	Hom;G>C	602;0|14
N	N	-	21	47320377	47320377	C	T	snp	intronic	 	 	 	 	PCBP3	Pcbp3	ENSG00000183570	poly(rC) binding protein 3	chr21:47063608-47362368	This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Bipolar Disorder	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0016071;mRNA metabolic process;NAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:1990829;C-rich single-stranded DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCBP3			https://www.ncbi.nlm.nih.gov/omim/?term=608502	http://www.informatics.jax.org/searchtool/Search.do?query=PCBP3&submit=Quick%0D%15012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCBP3	rs2075891	0.40615	0	0	1	0	0	intronic	intronic	intronic	PCBP3	PCBP3	ENSG00000183570	Na	Na	Na	Na	Na	Na	Het;C>T	130;4|5	Hom;C>T	47;0|2
N	N	-	21	47392954	47392954	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101928796																		rs1005467	0.532947	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928796	PCBP3(dist=30586),COL6A1(dist=8709)	ENSG00000183570(dist=30586),ENSG00000142156(dist=8697)	Na	Na	Na	Na	Na	Na	Het;C>T	534;58|33	Hom;C>T	2003;0|78
N	N	-	21	47401494	47401513	CCCCGCCCCGCCCCTCCCCT	C	indel	upstream	 	 	 	 	COL6A1	Col6a1	ENSG00000142156	collagen type VI alpha 1 chain	chr21:47401651-47424964	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine	Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy.  Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.	Collagen chain trimerization	GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A1	https://www.uniprot.org/uniprot/P12109	https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120220	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1	Na	0	0	0	1	0	0	upstream	upstream	upstream	COL6A1	COL6A1	ENSG00000142156	Na	Na	Na	Na	Na	Na	Het;-CCCGCCCCGCCCCTCCCCT	115;2|4	Hom;-CCCGCCCCGCCCCTCCCCT	153;0|6
N	N	-	21	47401760	47401760	C	G	snp	UTR5	-5C>G	 	 	 	COL6A1	Col6a1	ENSG00000142156	collagen type VI alpha 1 chain	chr21:47401651-47424964	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine	Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy.  Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.	Collagen chain trimerization	GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A1	https://www.uniprot.org/uniprot/P12109	https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120220	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1	rs7671	0.536542	0.4283	0.6132	1	0	0	UTR5	UTR5	UTR5	COL6A1(NM_001848:c.-5C>G)	COL6A1(uc002zhu.1:c.-5C>G)	ENSG00000142156(ENST00000361866:c.-5C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	496;24|23	Hom;C>G	1131;0|41
N	N	-	21	47404397	47404397	A	G	snp	intronic	 	 	 	 	COL6A1	Col6a1	ENSG00000142156	collagen type VI alpha 1 chain	chr21:47401651-47424964	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine	Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy.  Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.	Collagen chain trimerization	GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A1	https://www.uniprot.org/uniprot/P12109	https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120220	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1	rs3746993	0.880391	0.8632	0.8644	1	0	0	intronic	intronic	intronic	COL6A1	COL6A1	ENSG00000142156	Na	Na	Na	Na	Na	Na	Het;A>G	985;30|43	Hom;A>G	2075;0|70
N	N	-	21	47406612	47406612	C	A	snp	intronic	 	 	 	 	COL6A1	Col6a1	ENSG00000142156	collagen type VI alpha 1 chain	chr21:47401651-47424964	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine	Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy.  Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.	Collagen chain trimerization	GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A1	https://www.uniprot.org/uniprot/P12109	https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120220	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1	rs754507	0.695887	0	0.7215	1	0	0	intronic	intronic	intronic	COL6A1	COL6A1	ENSG00000142156	Na	Na	Na	Na	Na	Na	Het;C>A	2287;89|111	Hom;C>A	4748;5|196
N	N	-	21	47409503	47409503	A	G	snp	intronic	 	 	 	 	COL6A1	Col6a1	ENSG00000142156	collagen type VI alpha 1 chain	chr21:47401651-47424964	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine	Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy.  Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.	Collagen chain trimerization	GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A1	https://www.uniprot.org/uniprot/P12109	https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120220	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1	rs2277814	0.876797	0.8629	0.8618	1	0	0	intronic	intronic	intronic	COL6A1	COL6A1	ENSG00000142156	Na	Na	Na	Na	Na	Na	Het;A>G	1264;84|64	Hom;A>G	3460;2|127
N	N	-	21	47410931	47410931	T	C	snp	synonymous SNV	T1095C	G365G	aliphatic,neutral	aliphatic,neutral	COL6A1	Col6a1	ENSG00000142156	collagen type VI alpha 1 chain	chr21:47401651-47424964	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine	Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy.  Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.	Collagen chain trimerization	GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A1	https://www.uniprot.org/uniprot/P12109	https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120220	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1	rs1980982	0.544928	0.6239	0.5315	1	0	0	exonic	exonic	exonic	COL6A1	COL6A1	ENSG00000142156	synonymous SNV	synonymous SNV	unknown	COL6A1:NM_001848:exon15:c.T1095C:p.G365G,	COL6A1:uc002zhu.1:exon15:c.T1095C:p.G365G,	UNKNOWN	Het;T>C	1139;70|61	Hom;T>C	2775;0|107
N	N	-	21	47411216	47411216	G	A	snp	intronic	 	 	 	 	COL6A1	Col6a1	ENSG00000142156	collagen type VI alpha 1 chain	chr21:47401651-47424964	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine	Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy.  Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.	Collagen chain trimerization	GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A1	https://www.uniprot.org/uniprot/P12109	https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120220	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1	rs55726338	0.124601	0	0	1	0	0	intronic	intronic	intronic	COL6A1	COL6A1	ENSG00000142156	Na	Na	Na	Na	Na	Na	Het;G>A	63;2|3	Hom;G>A	152;0|7
N	N	-	21	47484458	47484458	A	G	snp	intergenic	 	 	 	 	AP001476.2																		rs10084568	0.599441	0	0	1	0	0	intergenic	intergenic	intergenic	COL6A1(dist=59495),COL6A2(dist=33575)	COL6A1(dist=59495),COL6A2(dist=33575)	ENSG00000226115(dist=6977),ENSG00000233767(dist=7541)	Na	Na	Na	Na	Na	Na	Het;A>G	50;2|2	Hom;A>G	242;0|6
N	N	-	21	47484465	47484465	G	C	snp	intergenic	 	 	 	 	AP001476.2																		rs11700594	0.227436	0	0	1	0	0	intergenic	intergenic	intergenic	COL6A1(dist=59502),COL6A2(dist=33568)	COL6A1(dist=59502),COL6A2(dist=33568)	ENSG00000226115(dist=6984),ENSG00000233767(dist=7534)	Na	Na	Na	Na	Na	Na	Het;G>C	50;2|2	Hom;G>C	242;0|6
N	N	-	21	47614443	47614443	A	G	snp	synonymous SNV	T1710C	H570H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs2254522	0.338458	0.2398	0.2594	1	0	0	exonic	exonic	exonic	LSS	LSS	ENSG00000160285	synonymous SNV	synonymous SNV	unknown	LSS:NM_002340:exon20:c.T1950C:p.H650H,LSS:NM_001001438:exon20:c.T1950C:p.H650H,LSS:NM_001145436:exon20:c.T1917C:p.H639H,LSS:NM_001145437:exon19:c.T1710C:p.H570H,	LSS:uc002zik.2:exon19:c.T1710C:p.H570H,LSS:uc011afv.1:exon20:c.T1917C:p.H639H,LSS:uc002zil.2:exon20:c.T1950C:p.H650H,LSS:uc002zij.3:exon20:c.T1950C:p.H650H,	UNKNOWN	Het;A>G	170;34|13	Hom;A>G	991;0|35
N	N	-	21	47614469	47614469	A	C	snp	nonsynonymous SNV	T1924G	L642V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs2254524	0.732228	0.7417	0.6750	0.15	2	13	exonic	exonic	exonic	LSS	LSS	ENSG00000160285	nonsynonymous SNV	nonsynonymous SNV	unknown	LSS:NM_002340:exon20:c.T1924G:p.L642V,LSS:NM_001001438:exon20:c.T1924G:p.L642V,LSS:NM_001145436:exon20:c.T1891G:p.L631V,LSS:NM_001145437:exon19:c.T1684G:p.L562V,	LSS:uc002zik.2:exon19:c.T1684G:p.L562V,LSS:uc011afv.1:exon20:c.T1891G:p.L631V,LSS:uc002zil.2:exon20:c.T1924G:p.L642V,LSS:uc002zij.3:exon20:c.T1924G:p.L642V,	UNKNOWN	Het;A>C	279;38|18	Hom;A>C	1130;0|42
N	N	-	21	47614660	47614660	G	T	snp	intronic	 	 	 	 	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs2277824	0.220248	0	0	1	0	0	intronic	intronic	intronic	LSS	LSS	ENSG00000160285	Na	Na	Na	Na	Na	Na	Het;G>T	195;4|9	Hom;G>T	174;0|6
N	N	-	21	47614975	47614975	C	T	snp	intronic	 	 	 	 	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs9981910	0.220447	0	0	1	0	0	intronic	intronic	intronic	LSS	LSS	ENSG00000160285	Na	Na	Na	Na	Na	Na	Het;C>T	89;2|5	Hom;C>T	332;0|13
N	N	-	21	47616071	47616071	G	C	snp	intronic	 	 	 	 	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs7282841	0.598842	0.6207	0.6268	1	0	0	intronic	intronic	intronic	LSS	LSS	ENSG00000160285	Na	Na	Na	Na	Na	Na	Het;G>C	1060;29|28	Hom;G>C	2541;0|56
N	N	-	21	47616080	47616080	G	A	snp	intronic	 	 	 	 	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs2839140	0.58127	0.5772	0.5847	1	0	0	intronic	intronic	intronic	LSS	LSS	ENSG00000160285	Na	Na	Na	Na	Na	Na	Het;G>A	1293;34|39	Hom;G>A	2739;0|66
N	N	-	21	47639492	47639492	C	G	snp	intronic	 	 	 	 	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs2277826	0.51897	0.5068	0.5756	1	0	0	intronic	intronic	intronic	LSS	LSS	ENSG00000160285	Na	Na	Na	Na	Na	Na	Het;C>G	508;34|28	Hom;C>G	1104;0|40
N	N	-	21	47641700	47641700	G	T	snp	ncRNA_exonic	 	 	 	 	AP001469.1																		rs2839157	0.727835	0	0	1	0	0	intronic	intronic	ncRNA_exonic	LSS	LSS	ENSG00000223901	Na	Na	Na	Na	Na	Na	Het;G>T	452;17|20	Hom;G>T	693;1|25
N	N	-	21	47649060	47649060	C	G	snp	upstream	 	 	 	 	LSS	Lss	ENSG00000281289	lanosterol synthase	chr21:47608055-47648738	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]	Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder	 				GO:0016866;intramolecular transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LSS		https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600909	http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS	rs371862238	0	0	0	1	0	0	upstream	upstream	upstream	LSS,MCM3AP-AS1	LSS,MCM3AP-AS1	ENSG00000160285,ENSG00000215424	Na	Na	Na	Na	Na	Na	Het;C>G	105;0|3	Hom;C>G	209;0|6
N	N	-	21	47731495	47731495	G	A	snp	intronic	 	 	 	 	C21orf58	2610028H24Rik	ENSG00000160298	chromosome 21 open reading frame 58	chr21:47720095-47743789			 					http://www.genecards.org/index.php?path=/Search/keyword/C21orf58				http://www.informatics.jax.org/searchtool/Search.do?query=C21orf58&submit=Quick%0D%10446ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C21orf58	rs13049522	0.242013	0.1204	0.2507	1	0	0	intronic	intronic	intronic	C21orf58	C21orf58	ENSG00000160298	Na	Na	Na	Na	Na	Na	Het;G>A	1070;27|45	Hom;G>A	1940;0|68
N	N	-	21	47766139	47766139	T	C	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs9982233	0.67512	0.6891	0.6408	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;T>C	1239;47|56	Hom;T>C	2407;0|90
N	N	-	21	47766232	47766232	A	C	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs9979907	0.675319	0	0	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;A>C	319;13|17	Hom;A>C	674;0|26
N	N	-	21	47767008	47767008	G	A	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs9981892	0.161142	0	0	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;G>A	275;19|14	Hom;G>A	460;0|17
N	N	-	21	47767295	47767295	G	C	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs75756987	0.158147	0	0	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;G>C	103;9|6	Hom;G>C	473;0|13
N	N	-	21	47769134	47769134	A	T	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs35210219	0.313099	0.2543	0.2034	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;A>T	1104;65|53	Hom;A>T	2404;0|88
N	N	-	21	47773177	47773177	C	T	snp	nonsynonymous SNV	C1616T	T539I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs2249060	0.159345	0.1176	0.1471	0.17	2	12	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon10:c.C1616T:p.T539I,	PCNT:uc002zji.4:exon10:c.C1616T:p.T539I,PCNT:uc002zjj.3:exon10:c.C1262T:p.T421I,	UNKNOWN	Het;C>T	1154;37|57	Hom;C>T	2752;0|103
N	N	-	21	47786524	47786524	A	G	snp	nonsynonymous SNV	A2635G	T879A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs2839227	0.316693	0.2597	0.2050	0.08	1	13	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon15:c.A2635G:p.T879A,	PCNT:uc002zji.4:exon15:c.A2635G:p.T879A,PCNT:uc002zjj.3:exon15:c.A2281G:p.T761A,	UNKNOWN	Het;A>G	1097;55|51	Hom;A>G	3155;0|116
N	N	-	21	47801504	47801504	G	A	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs34950974	0.157149	0	0	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;G>A	58;4|3	Hom;G>A	93;0|4
N	N	-	21	47808617	47808617	C	T	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs7279052	0.151957	0.1070	0.1471	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;C>T	663;36|33	Hom;C>T	1046;0|37
N	N	-	21	47808679	47808679	C	T	snp	nonsynonymous SNV	C3487T	R1163C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs7279204	0.152157	0.1075	0.1479	0.54	7	13	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon18:c.C3487T:p.R1163C,	PCNT:uc002zji.4:exon18:c.C3487T:p.R1163C,PCNT:uc002zjj.3:exon18:c.C3133T:p.R1045C,	UNKNOWN	Het;C>T	1191;60|61	Hom;C>T	2672;1|102
N	N	-	21	47810101	47810101	G	A	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs4819244	0.149161	0	0	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;G>A	130;2|5	Hom;G>A	226;0|9
N	N	-	21	47821588	47821588	A	G	snp	nonsynonymous SNV	A4915G	I1639V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs6518291	0.334665	0.3136	0.2494	0.08	1	13	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon26:c.A4915G:p.I1639V,	PCNT:uc002zji.4:exon26:c.A4915G:p.I1639V,PCNT:uc002zjj.3:exon26:c.A4561G:p.I1521V,	UNKNOWN	Het;A>G	1570;72|73	Hom;A>G	3330;0|119
N	N	-	21	47832012	47832012	A	AT	indel	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs386394895	0.148562	0.1033	0.1440	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;+T	893;65|47	Hom;+T	2058;9|84
N	N	-	21	47834619	47834649	ACTCCTCCTCCTGGACACACAGCTGCCCACC	A	indel	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	Na	0	0	0	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;-CTCCTCCTCCTGGACACACAGCTGCCCACC	159;2|5	Hom;-CTCCTCCTCCTGGACACACAGCTGCCCACC	301;0|8
N	N	-	21	47847852	47847852	T	C	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs2073374	0.684305	0	0	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;T>C	349;13|15	Hom;T>C	1151;0|41
N	N	-	21	47850178	47850178	C	T	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs57385578	0.105232	0.0499	0.1067	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;C>T	1862;129|94	Hom;C>T	5712;2|211
N	N	-	21	47850405	47850405	C	T	snp	intronic	 	 	 	 	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs2839257	0.669129	0.7056	0.6653	1	0	0	intronic	intronic	intronic	PCNT	PCNT	ENSG00000160299	Na	Na	Na	Na	Na	Na	Het;C>T	691;32|35	Hom;C>T	1582;0|59
N	N	-	21	47850484	47850484	G	C	snp	nonsynonymous SNV	G7977C	Q2659H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs2070426	0.488219	0.4841	0.5774	0.08	1	13	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon37:c.G7977C:p.Q2659H,	PCNT:uc002zji.4:exon37:c.G7977C:p.Q2659H,PCNT:uc002zjj.3:exon37:c.G7623C:p.Q2541H,	UNKNOWN	Het;G>C	1113;48|52	Hom;G>C	1797;0|59
N	N	-	21	47851753	47851753	A	G	snp	nonsynonymous SNV	A8375G	Q2792R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs2073376	0.669928	0.6918	0.6397	0.08	1	13	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon38:c.A8375G:p.Q2792R,	PCNT:uc002zji.4:exon38:c.A8375G:p.Q2792R,PCNT:uc002zjj.3:exon38:c.A8021G:p.Q2674R,	UNKNOWN	Het;A>G	1314;73|61	Hom;A>G	3470;0|122
N	N	-	21	47851796	47851796	G	A	snp	synonymous SNV	G8418A	A2806A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs9983522	0.146565	0.1025	0.1406	1	0	0	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	synonymous SNV	synonymous SNV	unknown	PCNT:NM_006031:exon38:c.G8418A:p.A2806A,	PCNT:uc002zji.4:exon38:c.G8418A:p.A2806A,PCNT:uc002zjj.3:exon38:c.G8064A:p.A2688A,	UNKNOWN	Het;G>A	1458;85|70	Hom;G>A	3637;4|137
N	N	-	21	47855876	47855876	A	G	snp	synonymous SNV	A8811G	T2937T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs17371795	0.146965	0.1027	0.1413	1	0	0	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	synonymous SNV	synonymous SNV	unknown	PCNT:NM_006031:exon39:c.A8811G:p.T2937T,	PCNT:uc002zji.4:exon39:c.A8811G:p.T2937T,PCNT:uc002zjj.3:exon39:c.A8220G:p.T2740T,	UNKNOWN	Het;A>G	1239;115|67	Hom;A>G	3177;2|121
N	N	-	21	9451738	9451738	G	A	snp	intergenic	 	 	 	 	NONE																		rs71273877	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR3648-1(dist=374094)	NONE(dist=NONE),DQ579288(dist=238333)	NONE(dist=NONE),ENSG00000238411(dist=231453)	Na	Na	Na	Na	Na	Na	Het;G>A	4055;10|96	Hom;G>A	4233;4|103
N	N	-	21	9577247	9577247	T	C	snp	intergenic	 	 	 	 	NONE																		rs77203822	0.790136	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR3648-1(dist=248585)	NONE(dist=NONE),DQ579288(dist=112824)	NONE(dist=NONE),ENSG00000238411(dist=105944)	Na	Na	Na	Na	Na	Na	Het;T>C	1649;31|65	Hom;T>C	2362;0|81
N	N	-	21	9665913	9665913	C	T	snp	intergenic	 	 	 	 	NONE																		rs80201192	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR3648-1(dist=159919)	NONE(dist=NONE),DQ579288(dist=24158)	NONE(dist=NONE),ENSG00000238411(dist=17278)	Na	Na	Na	Na	Na	Na	Het;C>T	2146;42|101	Hom;C>T	2712;0|107
N	N	-	21	9666045	9666046	AT	A	indel	intergenic	 	 	 	 	NONE																		rs375907199	0.85004	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR3648-1(dist=159786)	NONE(dist=NONE),DQ579288(dist=24025)	NONE(dist=NONE),ENSG00000238411(dist=17145)	Na	Na	Na	Na	Na	Na	Het;-T	571;11|32	Hom;-T	460;0|21
N	N	-	21	9766178	9766178	C	T	snp	intergenic	 	 	 	 	ENSG00000238411																		rs527706209	0.653754	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR3648-1(dist=59654)	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000238411(dist=82906),ENSG00000264462(dist=59654)	Na	Na	Na	Na	Na	Na	Het;C>T	240;12|10	Hom;C>T	94;0|4
N	N	-	21	9857504	9857504	G	T	snp	intergenic	 	 	 	 	MIR3687-2																		rs756201706	0	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3687-1(dist=31241),TEKT4P2(dist=49685)	MIR3687(dist=31241),TEKT4P2(dist=49685)	ENSG00000264063(dist=31241),ENSG00000188681(dist=49686)	Na	Na	Na	Na	Na	Na	Het;G>T	78;5|5	Hom;G>T	143;0|6
N	N	-	21	9866248	9866248	T	A	snp	intergenic	 	 	 	 	MIR3687-2																		rs144043309	0.915935	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3687-1(dist=39985),TEKT4P2(dist=40941)	MIR3687(dist=39985),TEKT4P2(dist=40941)	ENSG00000264063(dist=39985),ENSG00000188681(dist=40942)	Na	Na	Na	Na	Na	Na	Het;T>A	166;3|6	Hom;T>A	257;0|8
N	N	-	21	9867260	9867260	T	G	snp	intergenic	 	 	 	 	MIR3687-2																		rs1809759	0.55631	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3687-1(dist=40997),TEKT4P2(dist=39929)	MIR3687(dist=40997),TEKT4P2(dist=39929)	ENSG00000264063(dist=40997),ENSG00000188681(dist=39930)	Na	Na	Na	Na	Na	Na	Het;T>G	337;2|10	Hom;T>G	121;0|4
N	N	-	21	9885882	9885882	T	C	snp	intergenic	 	 	 	 	MIR3687-2																		rs77669077	0.627596	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3687-1(dist=59619),TEKT4P2(dist=21307)	MIR3687(dist=59619),TEKT4P2(dist=21307)	ENSG00000264063(dist=59619),ENSG00000188681(dist=21308)	Na	Na	Na	Na	Na	Na	Het;T>C	1153;8|48	Hom;T>C	1933;0|61
N	N	-	21	9885917	9885917	C	A	snp	intergenic	 	 	 	 	MIR3687-2																		rs4621513	0	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3687-1(dist=59654),TEKT4P2(dist=21272)	MIR3687(dist=59654),TEKT4P2(dist=21272)	ENSG00000264063(dist=59654),ENSG00000188681(dist=21273)	Na	Na	Na	Na	Na	Na	Het;C>A	1565;34|41	Hom;C>A	3168;0|79
N	N	-	21	9891901	9891901	C	T	snp	intergenic	 	 	 	 	MIR3687-2																		rs6605427	0.0169728	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3687-1(dist=65638),TEKT4P2(dist=15288)	MIR3687(dist=65638),TEKT4P2(dist=15288)	ENSG00000264063(dist=65638),ENSG00000188681(dist=15289)	Na	Na	Na	Na	Na	Na	Het;C>T	163;1|8	Hom;C>T	150;0|7
N	N	-	21	9913390	9913390	G	A	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs78323050	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;G>A	450;15|21	Hom;G>A	895;0|31
N	N	-	21	9913430	9913430	A	G	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs77061955	0.866214	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;A>G	651;14|30	Hom;A>G	1084;0|40
N	N	-	21	9913491	9913491	A	G	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs79996646	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;A>G	859;22|37	Hom;A>G	2117;0|57
N	N	-	21	9913524	9913524	C	T	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs146296987	0.837061	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;C>T	1871;32|46	Hom;C>T	3392;0|75
N	N	-	21	9913526	9913526	G	A	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs138189880	0.837061	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;G>A	1871;32|47	Hom;G>A	3392;0|76
N	N	-	21	9913537	9913537	G	A	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs142868790	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;G>A	1907;36|53	Hom;G>A	3612;0|84
N	N	-	21	9926900	9926900	G	T	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs868156975	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;G>T	700;22|31	Hom;G>T	1102;0|38
N	N	-	21	9927444	9927444	G	A	snp	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs377222329	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;G>A	128;1|5	Hom;G>A	114;0|4
N	N	-	21	9956704	9956704	A	AG	indel	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs200389137	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;+G	683;12|18	Hom;+G	548;0|13
N	N	-	21	9956707	9956707	A	AAAT	indel	ncRNA_intronic	 	 	 	 	TEKT4P2																		rs376888039	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TEKT4P2	TEKT4P2	ENSG00000188681	Na	Na	Na	Na	Na	Na	Het;+AAT	704;12|18	Hom;+AAT	572;0|13
N	N	-	22	16499554	16499554	T	TAC	indel	intergenic	 	 	 	 	YME1L1P1																		rs575510567	0	0	0	1	0	0	intergenic	intergenic	intergenic	OR11H1(dist=49750),CCT8L2(dist=572094)	OR11H1(dist=49750),DQ571479(dist=530062)	ENSG00000236831(dist=11581),ENSG00000265406(dist=70370)	Na	Na	Na	Na	Na	Na	Het;+AC	229;2|10	Hom;+AC	85;0|4
N	N	-	22	17229353	17229353	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01665																		rs2079586	0.669529	0	0	1	0	0	intergenic	upstream	ncRNA_exonic	ANKRD62P1-PARP4P3(dist=72923),XKR3(dist=34953)	BC038197	ENSG00000235343	Na	Na	Na	Na	Na	Na	Het;T>C	946;71|45	Hom;T>C	2803;8|114
N	N	-	22	17231719	17231719	C	T	snp	intergenic	 	 	 	 	LINC01665																		rs5993996	0.697684	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD62P1-PARP4P3(dist=75289),XKR3(dist=32587)	BC038197(dist=2391),XKR3(dist=32587)	ENSG00000235343(dist=2184),ENSG00000172967(dist=32583)	Na	Na	Na	Na	Na	Na	Het;C>T	96;28|9	Hom;C>T	924;0|32
N	N	-	22	17309362	17309362	G	T	snp	ncRNA_intronic	 	 	 	 	HSFY1P1																		rs175147	0.539537	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	HSFY1P1	HSFY1P1	ENSG00000229027	Na	Na	Na	Na	Na	Na	Het;G>T	90;3|4	Hom;G>T	150;0|6
N	N	-	22	17338687	17338687	C	G	snp	ncRNA_exonic	 	 	 	 	ZNF402P																		rs165740	0.444289	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HSFY1P1(dist=28462),GAB4(dist=104140)	HSFY1P1(dist=28462),IGKV1-12(dist=46628)	ENSG00000220248	Na	Na	Na	Na	Na	Na	Het;C>G	466;23|22	Hom;C>G	891;0|33
N	N	-	22	17585465	17585465	G	T	snp	intronic	 	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs2302520	0.83766	0	0	1	0	0	intronic	intronic	intronic	IL17RA	IL17RA	ENSG00000177663	Na	Na	Na	Na	Na	Na	Het;G>T	293;7|12	Hom;G>T	864;0|29
N	N	-	22	17586471	17586471	C	T	snp	intronic	 	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs2241046	0.832268	0.8145	0.8115	1	0	0	intronic	intronic	intronic	IL17RA	IL17RA	ENSG00000177663	Na	Na	Na	Na	Na	Na	Het;C>T	729;55|37	Hom;C>T	2234;0|84
N	N	-	22	17586610	17586610	T	G	snp	intronic	 	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs11089412	0.20647	0	0	1	0	0	intronic	intronic	intronic	IL17RA	IL17RA	ENSG00000177663	Na	Na	Na	Na	Na	Na	Het;T>G	206;18|8	Hom;T>G	760;0|19
N	N	-	22	17589246	17589246	G	A	snp	synonymous SNV	G1137A	K379K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs879576	0.121406	0.1587	0.1153	1	0	0	exonic	exonic	exonic	IL17RA	IL17RA	ENSG00000177663	synonymous SNV	synonymous SNV	unknown	IL17RA:NM_001289905:exon12:c.G1035A:p.K345K,IL17RA:NM_014339:exon13:c.G1137A:p.K379K,	IL17RA:uc002zly.4:exon13:c.G1137A:p.K379K,	UNKNOWN	Het;G>A	1039;44|46	Hom;G>A	2088;2|80
N	N	-	22	17590180	17590180	G	A	snp	nonsynonymous SNV	G1969A	A657T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs41323645	0.113818	0.1282	0.3023	0.38	5	13	exonic	exonic	exonic	IL17RA	IL17RA	ENSG00000177663	nonsynonymous SNV	nonsynonymous SNV	unknown	IL17RA:NM_001289905:exon12:c.G1969A:p.A657T,IL17RA:NM_014339:exon13:c.G2071A:p.A691T,	IL17RA:uc002zly.4:exon13:c.G2071A:p.A691T,	UNKNOWN	Het;G>A	668;44|31	Hom;G>A	2117;2|80
N	N	-	22	17591089	17591089	G	A	snp	UTR3	*379G>A	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs2895332	0.73103	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*379G>A,NM_014339:c.*379G>A)	IL17RA(uc002zly.4:c.*379G>A)	ENSG00000177663(ENST00000319363:c.*379G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	276;25|16	Hom;G>A	1560;2|62
N	N	-	22	17591144	17591144	C	T	snp	UTR3	*434C>T	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs3179921	0.539736	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*434C>T,NM_014339:c.*434C>T)	IL17RA(uc002zly.4:c.*434C>T)	ENSG00000177663(ENST00000319363:c.*434C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	144;18|8	Hom;C>T	607;1|27
N	N	-	22	17591697	17591697	G	A	snp	UTR3	*987G>A	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs882644	0.555511	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*987G>A,NM_014339:c.*987G>A)	IL17RA(uc002zly.4:c.*987G>A)	ENSG00000177663(ENST00000319363:c.*987G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	362;11|18	Hom;G>A	840;0|31
N	N	-	22	17591973	17591973	G	T	snp	UTR3	*1263G>T	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs887795	0	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*1263G>T,NM_014339:c.*1263G>T)	IL17RA(uc002zly.4:c.*1263G>T)	ENSG00000177663(ENST00000319363:c.*1263G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	75;9|7	Hom;G>T	353;0|13
N	N	-	22	17593047	17593049	CAT	C	indel	UTR3	*2337_*2339delinsC	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs57380532	0.115216	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*2337_*2339delinsC,NM_014339:c.*2337_*2339delinsC)	IL17RA(uc002zly.4:c.*2337_*2339delinsC)	ENSG00000177663(ENST00000319363:c.*2337_*2339delinsC)	Na	Na	Na	Na	Na	Na	Het;-AT	1322;44|36	Hom;-AT	2269;0|52
N	N	-	22	17593685	17593685	G	A	snp	UTR3	*2975G>A	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs887796	0.836661	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*2975G>A,NM_014339:c.*2975G>A)	IL17RA(uc002zly.4:c.*2975G>A)	ENSG00000177663(ENST00000319363:c.*2975G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	644;25|25	Hom;G>A	1130;0|37
N	N	-	22	17593879	17593880	GT	G	indel	UTR3	*3169_*3170delinsG	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs111392920	0	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*3169_*3170delinsG,NM_014339:c.*3169_*3170delinsG)	IL17RA(uc002zly.4:c.*3169_*3170delinsG)	ENSG00000177663(ENST00000319363:c.*3169_*3170delinsG)	Na	Na	Na	Na	Na	Na	Het;-T	601;74|39	Hom;-T	3635;3|117
N	N	-	22	17594623	17594623	C	T	snp	UTR3	*3913C>T	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs11702918	0.113419	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*3913C>T,NM_014339:c.*3913C>T)	IL17RA(uc002zly.4:c.*3913C>T)	ENSG00000177663(ENST00000319363:c.*3913C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1139;54|53	Hom;C>T	2259;1|80
N	N	-	22	17594755	17594755	G	A	snp	UTR3	*4045G>A	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs11703539	0.0984425	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*4045G>A,NM_014339:c.*4045G>A)	IL17RA(uc002zly.4:c.*4045G>A)	ENSG00000177663(ENST00000319363:c.*4045G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	528;39|27	Hom;G>A	1293;0|46
N	N	-	22	17594886	17594886	T	C	snp	UTR3	*4176T>C	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs738035	0.48742	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*4176T>C,NM_014339:c.*4176T>C)	IL17RA(uc002zly.4:c.*4176T>C)	ENSG00000177663(ENST00000319363:c.*4176T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	297;22|12	Hom;T>C	1173;0|40
N	N	-	22	17594915	17594915	G	A	snp	UTR3	*4205G>A	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs738034	0.486422	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*4205G>A,NM_014339:c.*4205G>A)	IL17RA(uc002zly.4:c.*4205G>A)	ENSG00000177663(ENST00000319363:c.*4205G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	458;35|23	Hom;G>A	1702;0|64
N	N	-	22	17595070	17595070	T	G	snp	UTR3	*4360T>G	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs5992628	0.486022	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*4360T>G,NM_014339:c.*4360T>G)	IL17RA(uc002zly.4:c.*4360T>G)	ENSG00000177663(ENST00000319363:c.*4360T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	1078;43|39	Hom;T>G	2592;0|78
N	N	-	22	17596178	17596178	T	C	snp	UTR3	*5468T>C	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs4819962	0.61861	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*5468T>C,NM_014339:c.*5468T>C)	IL17RA(uc002zly.4:c.*5468T>C)	ENSG00000177663(ENST00000319363:c.*5468T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	433;26|21	Hom;T>C	1327;0|45
N	N	-	22	17596388	17596388	G	C	snp	UTR3	*5678G>C	 	 	 	IL17RA	Il17ra	ENSG00000177663	interleukin 17 receptor A	chr22:17565844-17596583	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis.	Interleukin-17 signaling	GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL17RA		https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605461	http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA	rs1654	0.836861	0	0	1	0	0	UTR3	UTR3	UTR3	IL17RA(NM_001289905:c.*5678G>C,NM_014339:c.*5678G>C)	IL17RA(uc002zly.4:c.*5678G>C)	ENSG00000177663(ENST00000319363:c.*5678G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	544;33|28	Hom;G>C	1417;0|53
N	N	-	22	17600977	17600977	G	A	snp	synonymous SNV	C1041T	F347F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CECR6	Cecr6	ENSG00000183307	cat eye syndrome chromosome region, candidate 6	chr22:17597189-17602257		Platelet Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CECR6				http://www.informatics.jax.org/searchtool/Search.do?query=CECR6&submit=Quick%0D%14963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CECR6	rs5994165	0.476837	0.4058	0.4307	1	0	0	exonic	exonic	exonic	CECR6	CECR6	ENSG00000183307	synonymous SNV	synonymous SNV	unknown	CECR6:NM_031890:exon1:c.C1041T:p.F347F,	CECR6:uc002zmb.2:exon1:c.C1041T:p.F347F,	UNKNOWN	Het;G>A	1320;75|67	Hom;G>A	3921;4|155
N	N	-	22	17601748	17601748	C	T	snp	synonymous SNV	G270A	V90V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CECR6	Cecr6	ENSG00000183307	cat eye syndrome chromosome region, candidate 6	chr22:17597189-17602257		Platelet Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CECR6				http://www.informatics.jax.org/searchtool/Search.do?query=CECR6&submit=Quick%0D%14963ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CECR6	rs9606620	0.333666	0.3435	0.5732	1	0	0	exonic	exonic	exonic	CECR6	CECR6	ENSG00000183307	synonymous SNV	synonymous SNV	unknown	CECR6:NM_031890:exon1:c.G270A:p.V90V,	CECR6:uc002zmb.2:exon1:c.G270A:p.V90V,	UNKNOWN	Het;C>T	239;8|11	Hom;C>T	451;0|19
N	N	-	22	17602839	17602839	G	A	snp	unknown	 	 	 	 	LINC01664																		rs5992629	0.878195	0	0.8590	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	LOC100996342	BC021738	ENSG00000235478	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	772;32|37	Hom;G>A	1662;0|62
N	N	-	22	17623880	17623880	G	GC	indel	intronic	 	 	 	 	CECR5	Cecr5																	rs34058953	0.885583	0	0	1	0	0	intronic	intronic	intronic	CECR5	CECR5	ENSG00000069998	Na	Na	Na	Na	Na	Na	Het;+C	34;6|3	Hom;+C	385;0|13
N	N	-	22	17640399	17640399	G	GGGC	indel	ncRNA_exonic	 	 	 	 	CECR5-AS1																		rs148919630	0.318091	0	0.3547	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CECR5-AS1	CECR5-AS1	ENSG00000185837	Na	Na	Na	Na	Na	Na	Het;+GGC	553;27|16	Hom;+GGC	2302;0|51
N	N	-	22	17662591	17662591	C	G	snp	intronic	 	 	 	 	CECR1	 																	rs11703884	0.186901	0	0	1	0	0	intronic	intronic	intronic	CECR1	CECR1	ENSG00000093072	Na	Na	Na	Na	Na	Na	Het;C>G	97;8|4	Hom;C>G	278;0|9
N	N	-	22	17662679	17662679	C	T	snp	intronic	 	 	 	 	CECR1	 																	rs41282461	0.1873	0.2935	0.2499	1	0	0	intronic	intronic	intronic	CECR1	CECR1	ENSG00000093072	Na	Na	Na	Na	Na	Na	Het;C>T	521;29|27	Hom;C>T	1210;0|45
N	N	-	22	17662699	17662699	A	G	snp	intronic	 	 	 	 	CECR1	 																	rs58754958	0.1873	0.2989	0.2568	1	0	0	intronic	intronic	intronic	CECR1	CECR1	ENSG00000093072	Na	Na	Na	Na	Na	Na	Het;A>G	768;49|38	Hom;A>G	1633;0|63
N	N	-	22	17662793	17662793	A	G	snp	synonymous SNV	T1233C	Y411Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	CECR1	 																	rs7289170	0.191893	0.3021	0.2565	1	0	0	exonic	exonic	exonic	CECR1	CECR1	ENSG00000093072	synonymous SNV	synonymous SNV	unknown	CECR1:NM_001282228:exon9:c.T1233C:p.Y411Y,CECR1:NM_001282229:exon8:c.T999C:p.Y333Y,CECR1:NM_177405:exon6:c.T636C:p.Y212Y,CECR1:NM_001282225:exon9:c.T1359C:p.Y453Y,CECR1:NM_001282227:exon9:c.T1233C:p.Y411Y,CECR1:NM_001282226:exon9:c.T1359C:p.Y453Y,	CECR1:uc011agi.1:exon9:c.T1233C:p.Y411Y,CECR1:uc010gqu.1:exon9:c.T1359C:p.Y453Y,CECR1:uc002zmk.1:exon8:c.T1359C:p.Y453Y,CECR1:uc002zmj.1:exon6:c.T636C:p.Y212Y,	UNKNOWN	Het;A>G	1287;80|62	Hom;A>G	2833;0|103
N	N	-	22	17662917	17662917	G	C	snp	intronic	 	 	 	 	CECR1	 																	rs3764846	0.186302	0.2922	0.2510	1	0	0	intronic	intronic	intronic	CECR1	CECR1	ENSG00000093072	Na	Na	Na	Na	Na	Na	Het;G>C	932;29|40	Hom;G>C	1239;0|43
N	N	-	22	17669306	17669306	T	C	snp	nonsynonymous SNV	A878G	H293R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CECR1	 																	rs2231495	0.364617	0.4056	0.3473	0.15	2	13	exonic	exonic	exonic	CECR1	CECR1	ENSG00000093072	nonsynonymous SNV	nonsynonymous SNV	unknown	CECR1:NM_001282228:exon7:c.A878G:p.H293R,CECR1:NM_001282229:exon6:c.A644G:p.H215R,CECR1:NM_177405:exon4:c.A281G:p.H94R,CECR1:NM_001282225:exon7:c.A1004G:p.H335R,CECR1:NM_001282227:exon7:c.A878G:p.H293R,CECR1:NM_001282226:exon7:c.A1004G:p.H335R,	CECR1:uc011agi.1:exon7:c.A878G:p.H293R,CECR1:uc010gqu.1:exon7:c.A1004G:p.H335R,CECR1:uc002zmk.1:exon6:c.A1004G:p.H335R,CECR1:uc002zmj.1:exon4:c.A281G:p.H94R,	UNKNOWN	Het;T>C	890;36|44	Hom;T>C	2145;0|78
N	N	-	22	17669406	17669406	G	C	snp	intronic	 	 	 	 	CECR1	 																	rs9619005	0.563099	0	0	1	0	0	intronic	intronic	intronic	CECR1	CECR1	ENSG00000093072	Na	Na	Na	Na	Na	Na	Het;G>C	225;8|9	Hom;G>C	517;0|17
N	N	-	22	17680519	17680519	A	C	snp	UTR5	-51T>G	 	 	 	CECR1	 																	rs17807317	0.3123	0.4297	0.4115	1	0	0	UTR5	UTR5	UTR5	CECR1(NM_177405:c.-51T>G)	CECR1(uc002zmj.1:c.-51T>G)	ENSG00000093072(ENST00000330232:c.-51T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	370;10|19	Hom;A>C	1255;0|47
N	N	-	22	17690409	17690409	G	A	snp	synonymous SNV	C33T	N11N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CECR1	 																	rs362129	0.311302	0.4496	0.4341	1	0	0	exonic	exonic	exonic	CECR1	CECR1	ENSG00000093072	synonymous SNV	synonymous SNV	unknown	CECR1:NM_001282228:exon2:c.C33T:p.N11N,CECR1:NM_001282225:exon2:c.C159T:p.N53N,CECR1:NM_001282227:exon2:c.C33T:p.N11N,CECR1:NM_001282226:exon2:c.C159T:p.N53N,	CECR1:uc011agi.1:exon2:c.C33T:p.N11N,CECR1:uc010gqu.1:exon2:c.C159T:p.N53N,CECR1:uc002zmk.1:exon1:c.C159T:p.N53N,CECR1:uc011agj.1:exon2:c.C33T:p.N11N,	UNKNOWN	Het;G>A	597;33|29	Hom;G>A	2251;0|87
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	17739036	17739036	G	C	snp	ncRNA_exonic	 	 	 	 	CECR3																		rs9605248	0.316294	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CECR3	CECR3	ENSG00000241832	Na	Na	Na	Na	Na	Na	Het;G>C	1571;90|72	Hom;G>C	3882;1|140
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	17898755	17898755	C	CTGTTTCCTCCTTCGTAGCGTGCTGT	indel	ncRNA_exonic	 	 	 	 	FO681548.1																		rs148821229	0	0	0	1	0	0	intronic	intronic	ncRNA_exonic	CECR2	CECR2	ENSG00000229492	Na	Na	Na	Na	Na	Na	Het;+TGTTTCCTCCTTCGTAGCGTGCTGT	176;29|3	Hom;+TGTTTCCTCCTTCGTAGCGTGCTGT	1215;0|21
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	17899113	17899113	C	G	snp	intronic	 	 	 	 	CECR2	Cecr2	ENSG00000099954	CECR2, histone acetyl-lysine reader	chr22:17840837-18037850	This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Tobacco Use Disorder	Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background.		GO:0000910;cytokinesis;NAS|GO:0001842;neural fold formation;IEA|GO:0001843;neural tube closure;IEA|GO:0006309;apoptotic DNA fragmentation;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007338;single fertilization;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0021915;neural tube development;IEA|GO:0043044;ATP-dependent chromatin remodeling;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0090102;cochlea development;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005634;nucleus;IDA|GO:0005719;nuclear euchromatin;IEA|GO:0031010;ISWI-type complex;IEA|GO:0090537;CERF complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CECR2	https://www.uniprot.org/uniprot/Q9BXF3		https://www.ncbi.nlm.nih.gov/omim/?term=607576	http://www.informatics.jax.org/searchtool/Search.do?query=CECR2&submit=Quick%0D%2358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CECR2	rs5992687	0.253195	0	0	1	0	0	intronic	intronic	intronic	CECR2	CECR2	ENSG00000099954	Na	Na	Na	Na	Na	Na	Het;C>G	732;50|34	Hom;C>G	2026;0|65
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18021505	18021505	T	C	snp	intronic	 	 	 	 	CECR2	Cecr2	ENSG00000099954	CECR2, histone acetyl-lysine reader	chr22:17840837-18037850	This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Tobacco Use Disorder	Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background.		GO:0000910;cytokinesis;NAS|GO:0001842;neural fold formation;IEA|GO:0001843;neural tube closure;IEA|GO:0006309;apoptotic DNA fragmentation;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007338;single fertilization;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0021915;neural tube development;IEA|GO:0043044;ATP-dependent chromatin remodeling;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0090102;cochlea development;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005634;nucleus;IDA|GO:0005719;nuclear euchromatin;IEA|GO:0031010;ISWI-type complex;IEA|GO:0090537;CERF complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CECR2	https://www.uniprot.org/uniprot/Q9BXF3		https://www.ncbi.nlm.nih.gov/omim/?term=607576	http://www.informatics.jax.org/searchtool/Search.do?query=CECR2&submit=Quick%0D%2358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CECR2	rs2268776	0.091853	0.0493	0.0856	1	0	0	intronic	intronic	intronic	CECR2	CECR2	ENSG00000099954	Na	Na	Na	Na	Na	Na	Het;T>C	155;18|9	Hom;T>C	773;0|27
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18064010	18064012	CGT	C	indel	ncRNA_intronic	 	 	 	 	AC007666.1																		rs140144096	0.091853	0	0	1	0	0	intronic	intronic	ncRNA_intronic	LOC101929372,SLC25A18	SLC25A18	ENSG00000236754	Na	Na	Na	Na	Na	Na	Het;-GT	747;26|23	Hom;-GT	1155;0|27
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18171650	18171650	C	T	snp	intronic	 	 	 	 	BCL2L13	Bcl2l13	ENSG00000099968	BCL2 like 13	chr22:18111621-18213388	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0042981;regulation of apoptotic process;IEA	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L13	https://www.uniprot.org/uniprot/Q9BXK5			http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L13&submit=Quick%0D%2363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L13	rs5013026	0.60623	0	0	1	0	0	intronic	intronic	intronic	BCL2L13	BCL2L13	ENSG00000099968	Na	Na	Na	Na	Na	Na	Het;C>T	189;4|8	Hom;C>T	341;0|12
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18178859	18178859	C	T	snp	intronic	 	 	 	 	BCL2L13	Bcl2l13	ENSG00000099968	BCL2 like 13	chr22:18111621-18213388	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0042981;regulation of apoptotic process;IEA	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L13	https://www.uniprot.org/uniprot/Q9BXK5			http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L13&submit=Quick%0D%2363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L13	rs2257083	0.858626	0.8649	0.8413	1	0	0	intronic	intronic	intronic	BCL2L13	BCL2L13	ENSG00000099968	Na	Na	Na	Na	Na	Na	Het;C>T	666;31|32	Hom;C>T	1483;0|56
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18209613	18209613	A	G	snp	synonymous SNV	A285G	S95S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	BCL2L13	Bcl2l13	ENSG00000099968	BCL2 like 13	chr22:18111621-18213388	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0042981;regulation of apoptotic process;IEA	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L13	https://www.uniprot.org/uniprot/Q9BXK5			http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L13&submit=Quick%0D%2363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L13	rs4488761	0.665935	0.5524	0.5914	1	0	0	exonic	exonic	exonic	BCL2L13	BCL2L13	ENSG00000099968	synonymous SNV	synonymous SNV	unknown	BCL2L13:NM_001270729:exon6:c.A285G:p.S95S,BCL2L13:NM_001270726:exon6:c.A843G:p.S281S,BCL2L13:NM_001270727:exon5:c.A699G:p.S233S,BCL2L13:NM_015367:exon7:c.A771G:p.S257S,BCL2L13:NM_001270731:exon6:c.A285G:p.S95S,BCL2L13:NM_001270730:exon5:c.A285G:p.S95S,	BCL2L13:uc002zmz.4:exon6:c.A285G:p.S95S,BCL2L13:uc002zmw.4:exon7:c.A771G:p.S257S,BCL2L13:uc031rwg.1:exon6:c.A843G:p.S281S,BCL2L13:uc031rwh.1:exon5:c.A699G:p.S233S,BCL2L13:uc002zmx.4:exon6:c.A285G:p.S95S,BCL2L13:uc031rwi.1:exon5:c.A285G:p.S95S,	UNKNOWN	Het;A>G	775;70|40	Hom;A>G	3058;0|110
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18211205	18211205	T	C	snp	UTR3	*905T>C	 	 	 	BCL2L13	Bcl2l13	ENSG00000099968	BCL2 like 13	chr22:18111621-18213388	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0042981;regulation of apoptotic process;IEA	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L13	https://www.uniprot.org/uniprot/Q9BXK5			http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L13&submit=Quick%0D%2363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L13	rs9967	0.541933	0	0	1	0	0	UTR3	UTR3	UTR3	BCL2L13(NM_015367:c.*905T>C,NM_001270734:c.*1633T>C,NM_001270726:c.*905T>C,NM_001270735:c.*1749T>C,NM_001270732:c.*1749T>C,NM_001270730:c.*905T>C,NM_001270729:c.*905T>C,NM_001270731:c.*905T>C,NM_001270727:c.*905T>C,NM_001270728:c.*1749T>C,NM_001270733:c.*905T>C)	BCL2L13(uc002zmw.4:c.*905T>C,uc031rwf.1:c.*1749T>C,uc011agk.3:c.*1749T>C,uc002zmz.4:c.*905T>C,uc002zmx.4:c.*905T>C,uc010gqy.4:c.*1749T>C,uc031rwg.1:c.*905T>C,uc002zmy.4:c.*1633T>C,uc031rwh.1:c.*905T>C,uc031rwi.1:c.*905T>C,uc031rwj.1:c.*905T>C,uc010gqz.4:c.*905T>C,uc002zna.4:c.*905T>C)	ENSG00000099968(ENST00000317582:c.*905T>C,ENST00000543133:c.*905T>C,ENST00000498133:c.*1969T>C,ENST00000355028:c.*1633T>C,ENST00000399777:c.*1861T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	737;42|36	Hom;T>C	1714;0|64
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18211983	18211983	T	C	snp	UTR3	*2411T>C	 	 	 	BCL2L13	Bcl2l13	ENSG00000099968	BCL2 like 13	chr22:18111621-18213388	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0042981;regulation of apoptotic process;IEA	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L13	https://www.uniprot.org/uniprot/Q9BXK5			http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L13&submit=Quick%0D%2363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L13	rs5746469	0.151358	0	0	1	0	0	UTR3	UTR3	UTR3	BCL2L13(NM_015367:c.*1683T>C,NM_001270734:c.*2411T>C,NM_001270726:c.*1683T>C,NM_001270735:c.*2527T>C,NM_001270732:c.*2527T>C,NM_001270730:c.*1683T>C,NM_001270729:c.*1683T>C,NM_001270731:c.*1683T>C,NM_001270727:c.*1683T>C,NM_001270728:c.*2527T>C,NM_001270733:c.*1683T>C)	BCL2L13(uc002zmw.4:c.*1683T>C,uc031rwf.1:c.*2527T>C,uc011agk.3:c.*2527T>C,uc002zmz.4:c.*1683T>C,uc002zmx.4:c.*1683T>C,uc010gqy.4:c.*2527T>C,uc031rwg.1:c.*1683T>C,uc002zmy.4:c.*2411T>C,uc031rwh.1:c.*1683T>C,uc031rwi.1:c.*1683T>C,uc031rwj.1:c.*1683T>C,uc010gqz.4:c.*1683T>C,uc002zna.4:c.*1683T>C)	ENSG00000099968(ENST00000355028:c.*2411T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	2688;115|120	Hom;T>C	6849;1|246
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18213057	18213057	G	A	snp	UTR3	*3485G>A	 	 	 	BCL2L13	Bcl2l13	ENSG00000099968	BCL2 like 13	chr22:18111621-18213388	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0042981;regulation of apoptotic process;IEA	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L13	https://www.uniprot.org/uniprot/Q9BXK5			http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L13&submit=Quick%0D%2363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L13	rs8919	0.537141	0	0	1	0	0	UTR3	UTR3	UTR3	BCL2L13(NM_015367:c.*2757G>A,NM_001270734:c.*3485G>A,NM_001270726:c.*2757G>A,NM_001270735:c.*3601G>A,NM_001270732:c.*3601G>A,NM_001270730:c.*2757G>A,NM_001270729:c.*2757G>A,NM_001270731:c.*2757G>A,NM_001270727:c.*2757G>A,NM_001270728:c.*3601G>A,NM_001270733:c.*2757G>A)	BCL2L13(uc002zmw.4:c.*2757G>A,uc031rwf.1:c.*3601G>A,uc011agk.3:c.*3601G>A,uc002zmz.4:c.*2757G>A,uc002zmx.4:c.*2757G>A,uc010gqy.4:c.*3601G>A,uc031rwg.1:c.*2757G>A,uc002zmy.4:c.*3485G>A,uc031rwh.1:c.*2757G>A,uc031rwi.1:c.*2757G>A,uc031rwj.1:c.*2757G>A,uc010gqz.4:c.*2757G>A,uc002zna.4:c.*2757G>A)	ENSG00000099968(ENST00000355028:c.*3485G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1775;111|86	Hom;G>A	4847;1|177
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18218464	18218464	T	C	snp	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs181382	0.865216	0	0	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;T>C	385;17|12	Hom;T>C	1241;0|31
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18218475	18218475	C	G	snp	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs181383	0.850439	0	0	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;C>G	269;12|8	Hom;C>G	962;0|22
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18221942	18221945	ATCT	A	indel	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs398061817	0.672524	0	0	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;-TCT	38;3|2	Hom;-TCT	133;0|4
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18221958	18221958	T	G	snp	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs4819626	0.509984	0	0	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;T>G	86;4|3	Hom;T>G	287;0|7
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18221966	18221966	A	G	snp	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs181389	0.672524	0	0	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;A>G	83;5|3	Hom;A>G	328;0|8
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18222263	18222263	A	G	snp	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs181390	0.741813	0.6855	0.7081	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;A>G	292;26|15	Hom;A>G	972;0|36
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18226521	18226521	C	T	snp	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs738094	0.535543	0.4482	0.5809	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;C>T	39;2|3	Hom;C>T	91;0|4
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18233000	18233000	G	A	snp	intronic	 	 	 	 	BID	Bid	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID	rs181405	0.46885	0	0	1	0	0	intronic	intronic	intronic	BID	BID	ENSG00000015475	Na	Na	Na	Na	Na	Na	Het;G>A	380;21|19	Hom;G>A	1054;0|41
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18262301	18262301	T	A	snp	downstream	 	 	 	 	LINC00528																		rs9605406	0.29353	0	0	1	0	0	downstream	intergenic	downstream	LINC00528	BID(dist=4870),MICAL3(dist=8115)	ENSG00000269220	Na	Na	Na	Na	Na	Na	Het;T>A	179;10|11	Hom;T>A	245;0|9
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18518651	18518651	T	C	snp	ncRNA_exonic	 	 	 	 	FLJ41941																		rs1076115	0.208067	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ41941	FLJ41941	ENSG00000235295	Na	Na	Na	Na	Na	Na	Het;T>C	2107;152|103	Hom;T>C	6925;2|244
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18518783	18518783	T	C	snp	ncRNA_exonic	 	 	 	 	FLJ41941																		rs13057610	0.295327	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ41941	FLJ41941	ENSG00000235295	Na	Na	Na	Na	Na	Na	Het;T>C	2249;131|107	Hom;T>C	6178;1|216
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18520612	18520612	G	A	snp	ncRNA_exonic	 	 	 	 	FLJ41941																		rs8142189	0.172524	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ41941	FLJ41941	ENSG00000235295	Na	Na	Na	Na	Na	Na	Het;G>A	1821;124|84	Hom;G>A	6061;0|229
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18520654	18520654	G	A	snp	ncRNA_exonic	 	 	 	 	FLJ41941																		rs415606	0.753195	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ41941	FLJ41941	ENSG00000235295	Na	Na	Na	Na	Na	Na	Het;G>A	1098;84|58	Hom;G>A	4047;0|152
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18562888	18562888	C	T	snp	intronic	 	 	 	 	PEX26	Pex26	ENSG00000215193	peroxisomal biogenesis factor 26	chr22:18560689-18613905	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]	peroxisome-biogenesis disorder	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IDA|GO:0045046;protein import into peroxisome membrane;IEA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0032403;protein complex binding;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX26		https://hpo.jax.org/app/browse/search?q=PEX26&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608666	http://www.informatics.jax.org/searchtool/Search.do?query=PEX26&submit=Quick%0D%18317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX26	rs464541	0.575679	0	0	1	0	0	intronic	intronic	intronic	PEX26	PEX26	ENSG00000215193	Na	Na	Na	Na	Na	Na	Het;C>T	474;18|21	Hom;C>T	1074;0|36
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18571008	18571008	G	A	snp	UTR3	*167G>A	 	 	 	PEX26	Pex26	ENSG00000215193	peroxisomal biogenesis factor 26	chr22:18560689-18613905	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]	peroxisome-biogenesis disorder	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IDA|GO:0045046;protein import into peroxisome membrane;IEA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0032403;protein complex binding;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX26		https://hpo.jax.org/app/browse/search?q=PEX26&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608666	http://www.informatics.jax.org/searchtool/Search.do?query=PEX26&submit=Quick%0D%18317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX26	rs464385	0.422724	0	0.6133	1	0	0	UTR3	UTR3	UTR3	PEX26(NM_001199319:c.*167G>A,NM_017929:c.*167G>A,NM_001127649:c.*167G>A)	PEX26(uc002znp.4:c.*167G>A,uc002znt.3:c.*167G>A,uc002znq.4:c.*167G>A)	ENSG00000215193(ENST00000329627:c.*167G>A,ENST00000399744:c.*167G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	990;59|47	Hom;G>A	2670;0|90
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18572106	18572106	T	A	snp	UTR3	*1265T>A	 	 	 	PEX26	Pex26	ENSG00000215193	peroxisomal biogenesis factor 26	chr22:18560689-18613905	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]	peroxisome-biogenesis disorder	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IDA|GO:0045046;protein import into peroxisome membrane;IEA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0032403;protein complex binding;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX26		https://hpo.jax.org/app/browse/search?q=PEX26&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608666	http://www.informatics.jax.org/searchtool/Search.do?query=PEX26&submit=Quick%0D%18317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX26	rs456551	0.423123	0	0	1	0	0	UTR3	UTR3	UTR3	PEX26(NM_001199319:c.*1265T>A,NM_017929:c.*1265T>A,NM_001127649:c.*1265T>A)	PEX26(uc002znp.4:c.*1265T>A,uc002znt.3:c.*1265T>A,uc002znq.4:c.*1265T>A)	ENSG00000215193(ENST00000329627:c.*1265T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	487;15|21	Hom;T>A	1351;0|51
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18584433	18584433	T	C	snp	ncRNA_exonic	 	 	 	 	AC016027.4																		rs3827281	0.46845	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PEX26(dist=10636),TUBA8(dist=9020)	PEX26(dist=10636),TUBA8(dist=9020)	ENSG00000235617	Na	Na	Na	Na	Na	Na	Het;T>C	145;10|8	Hom;T>C	336;2|15
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18655860	18655860	G	A	snp	intronic	 	 	 	 	USP18	Usp18	ENSG00000184979	ubiquitin specific peptidase 18	chr22:18632666-18660164	The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]	Severe pseudo-TORCH syndrome (type 1 interferonopathy)	Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS.	Regulation of IFNA signaling	GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019785;ISG15-specific protease activity;EXP|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/USP18		https://hpo.jax.org/app/browse/search?q=USP18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607057	http://www.informatics.jax.org/searchtool/Search.do?query=USP18&submit=Quick%0D%15306ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP18	rs4819484	0.813498	0	0	1	0	0	intronic	intronic	intronic	USP18	USP18	ENSG00000184979	Na	Na	Na	Na	Na	Na	Het;G>A	420;12|21	Hom;G>A	1166;0|45
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18847134	18847136	AGG	A	indel	ncRNA_exonic	 	 	 	 	AL117485																		rs374135010	0.0591054	0	0	1	0	0	intergenic	ncRNA_exonic	upstream	GGT3P(dist=67660),DGCR6(dist=46600)	AL117485	ENSG00000215544	Na	Na	Na	Na	Na	Na	Het;-GG	824;7|40	Hom;-GG	1304;0|35
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18897795	18897795	A	G	snp	intronic	 	 	 	 	DGCR6	Dgcr6	ENSG00000183628	DiGeorge syndrome critical region gene 6	chr22:18893541-18901751	DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]	Psychiatric Disorders	 		GO:0007155;cell adhesion;TAS|GO:0009887;animal organ morphogenesis;TAS	GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/DGCR6		https://hpo.jax.org/app/browse/search?q=DGCR6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601279	http://www.informatics.jax.org/searchtool/Search.do?query=DGCR6&submit=Quick%0D%15028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR6	rs56190723	0.090655	0.0543	0.0787	1	0	0	intronic	intronic	intronic	DGCR6	DGCR6	ENSG00000183628	Na	Na	Na	Na	Na	Na	Het;A>G	369;36|21	Hom;A>G	995;0|37
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18913312	18913312	G	A	snp	intronic	 	 	 	 	PRODH	Prodh	ENSG00000100033	proline dehydrogenase 1	chr22:18900294-18924066	This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]	schizophrenia; bipolar disorder; Marijuana Abuse|Psychoses, Substance-Induced; schizotypal traits; bipolar disorder; schizophrenia | autism; CATCH 22 syndrome; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors; schizophrenia; null; Acquired Immunodeficiency Syndrome|Disease Progression; Psychiatric Disorders	Homozygotes for a spontaneous null mutation exhibit a slight reduction in male body weight, hyperprolinemia, increased startle reflex, and regionally altered brain levels of proline, glutamate, gamma-aminobutyric acid, and aspartate.	Proline catabolism	GO:0006560;proline metabolic process;TAS|GO:0006562;proline catabolic process;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;NAS|GO:0010133;proline catabolic process to glutamate;IEA|GO:0010942;positive regulation of cell death;IDA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005759;mitochondrial matrix;IEA	GO:0004657;proline dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRODH	https://www.uniprot.org/uniprot/O43272	https://hpo.jax.org/app/browse/search?q=PRODH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606810	http://www.informatics.jax.org/searchtool/Search.do?query=PRODH&submit=Quick%0D%2384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRODH	rs17810231	0.0605032	0.1099	0	1	0	0	intronic	intronic	intronic	PRODH	PRODH	ENSG00000100033	Na	Na	Na	Na	Na	Na	Het;G>A	602;35|32	Hom;G>A	1324;0|50
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18973471	18973471	T	C	snp	ncRNA_exonic	 	 	 	 	DGCR5																		rs2518800	0.573882	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	DGCR5	DGCR5	ENSG00000237517	Na	Na	Na	Na	Na	Na	Het;T>C	555;25|28	Hom;T>C	1324;0|50
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18979405	18979405	A	C	snp	ncRNA_exonic	 	 	 	 	DGCR5																		rs1210635	0.517372	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DGCR5	DGCR5	ENSG00000237517	Na	Na	Na	Na	Na	Na	Het;A>C	3986;191|185	Hom;A>C	6943;0|250
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18980443	18980443	T	C	snp	ncRNA_exonic	 	 	 	 	DGCR5																		rs1210637	0.5625	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DGCR5	DGCR5	ENSG00000237517	Na	Na	Na	Na	Na	Na	Het;T>C	1479;130|75	Hom;T>C	4909;2|182
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18981563	18981563	T	C	snp	ncRNA_exonic	 	 	 	 	DGCR5																		rs1210638	0.669529	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DGCR5	DGCR5	ENSG00000237517	Na	Na	Na	Na	Na	Na	Het;T>C	2445;109|112	Hom;T>C	5001;4|182
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18982097	18982097	G	A	snp	ncRNA_exonic	 	 	 	 	DGCR5																		rs2913	0.519569	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DGCR5	DGCR5	ENSG00000237517	Na	Na	Na	Na	Na	Na	Het;G>A	1667;71|78	Hom;G>A	2913;0|107
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	18984848	18984848	A	G	snp	ncRNA_exonic	 	 	 	 	AC007326.1																		rs1210641	0.560703	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	DGCR5	DGCR5	ENSG00000271275	Na	Na	Na	Na	Na	Na	Het;A>G	1036;38|46	Hom;A>G	2007;0|75
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19035524	19035524	G	A	snp	ncRNA_exonic	 	 	 	 	DGCR11																		rs111958116	0.000599042	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DGCR11	DGCR11	ENSG00000273311	Na	Na	Na	Na	Na	Na	Het;G>A	133;14|6	Hom;G>A	690;0|22
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19109865	19109865	C	G	snp	UTR5	-146G>C	 	 	 	DGCR2	Dgcr2	ENSG00000070413	DiGeorge syndrome critical region gene 2	chr22:19023795-19109967	Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	schizophrenia; Schizophrenia	 		GO:0007155;cell adhesion;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0050890;cognition;IMP	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DGCR2	https://www.uniprot.org/uniprot/P98153	https://hpo.jax.org/app/browse/search?q=DGCR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600594	http://www.informatics.jax.org/searchtool/Search.do?query=DGCR2&submit=Quick%0D%1355ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR2	rs181415181	0.000798722	0	0	1	0	0	UTR5	UTR5	ncRNA_intronic	DGCR2(NM_001173534:c.-146G>C,NM_001173533:c.-146G>C,NM_001184781:c.-146G>C,NM_005137:c.-146G>C)	DGCR2(uc002zoq.1:c.-146G>C,uc021wkx.1:c.-146G>C,uc021wky.1:c.-146G>C,uc021wkz.1:c.-65237G>C,uc011agr.1:c.-146G>C,uc002zor.1:c.-65237G>C)	ENSG00000223461	Na	Na	Na	Na	Na	Na	Het;C>G	549;31|28	Hom;C>G	1306;0|48
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19122498	19122498	C	T	snp	intronic	 	 	 	 	DGCR14	Dgcr14	ENSG00000100056		chr22:19117792-19132197	This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Chronic renal failure|Kidney Failure, Chronic; schizophrenia; Type 2 Diabetes| edema | rosiglitazone	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;ISS|GO:0008380;RNA splicing;IEA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DGCR14	https://www.uniprot.org/uniprot/Q96DF8			http://www.informatics.jax.org/searchtool/Search.do?query=DGCR14&submit=Quick%0D%2390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR14	rs2240110	0.432907	0	0	1	0	0	intronic	intronic	intronic	DGCR14	DGCR14	ENSG00000100056	Na	Na	Na	Na	Na	Na	Het;C>T	531;12|24	Hom;C>T	1191;0|44
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19130247	19130247	G	A	snp	nonsynonymous SNV	C296T	P99L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	DGCR14	Dgcr14	ENSG00000100056		chr22:19117792-19132197	This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Chronic renal failure|Kidney Failure, Chronic; schizophrenia; Type 2 Diabetes| edema | rosiglitazone	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;ISS|GO:0008380;RNA splicing;IEA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DGCR14	https://www.uniprot.org/uniprot/Q96DF8			http://www.informatics.jax.org/searchtool/Search.do?query=DGCR14&submit=Quick%0D%2390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR14	rs111488352	0.00139776	0.0080	0.0077	0.46	6	13	exonic	exonic	exonic	DGCR14	DGCR14	ENSG00000100056	nonsynonymous SNV	nonsynonymous SNV	unknown	DGCR14:NM_022719:exon2:c.C296T:p.P99L,	DGCR14:uc002zou.3:exon2:c.C296T:p.P99L,	UNKNOWN	Het;G>A	1426;80|65	Hom;G>A	2825;0|107
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19217613	19217613	C	T	snp	intronic	 	 	 	 	CLTCL1	 	ENSG00000070371	clathrin heavy chain like 1	chr22:19166986-19279239	This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]	Tobacco Use Disorder	 	Clathrin-mediated endocytosis	GO:0000278;mitotic cell cycle;IDA|GO:0006886;intracellular protein transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046326;positive regulation of glucose import;IMP|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005770;late endosome;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0016020;membrane;IDA|GO:0030130;clathrin coat of trans-Golgi network vesicle;IEA|GO:0030132;clathrin coat of coated pit;IEA|GO:0030135;coated vesicle;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA|GO:0097443;sorting endosome;IDA	GO:0004871;signal transducer activity;TAS|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLTCL1	https://www.uniprot.org/uniprot/P53675		https://www.ncbi.nlm.nih.gov/omim/?term=601273	http://www.informatics.jax.org/searchtool/Search.do?query=CLTCL1&submit=Quick%0D%1352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLTCL1	rs2800963	0	0	0	1	0	0	intronic	intronic	intronic	CLTCL1	CLTCL1	ENSG00000070371	Na	Na	Na	Na	Na	Na	Het;C>T	112;3|8	Hom;C>T	821;0|20
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19217617	19217617	C	T	snp	intronic	 	 	 	 	CLTCL1	 	ENSG00000070371	clathrin heavy chain like 1	chr22:19166986-19279239	This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]	Tobacco Use Disorder	 	Clathrin-mediated endocytosis	GO:0000278;mitotic cell cycle;IDA|GO:0006886;intracellular protein transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046326;positive regulation of glucose import;IMP|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005770;late endosome;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0016020;membrane;IDA|GO:0030130;clathrin coat of trans-Golgi network vesicle;IEA|GO:0030132;clathrin coat of coated pit;IEA|GO:0030135;coated vesicle;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA|GO:0097443;sorting endosome;IDA	GO:0004871;signal transducer activity;TAS|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLTCL1	https://www.uniprot.org/uniprot/P53675		https://www.ncbi.nlm.nih.gov/omim/?term=601273	http://www.informatics.jax.org/searchtool/Search.do?query=CLTCL1&submit=Quick%0D%1352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLTCL1	rs113338080	0	0	0	1	0	0	intronic	intronic	intronic	CLTCL1	CLTCL1	ENSG00000070371	Na	Na	Na	Na	Na	Na	Het;C>T	112;3|8	Hom;C>T	772;0|17
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19217621	19217621	G	T	snp	intronic	 	 	 	 	CLTCL1	 	ENSG00000070371	clathrin heavy chain like 1	chr22:19166986-19279239	This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]	Tobacco Use Disorder	 	Clathrin-mediated endocytosis	GO:0000278;mitotic cell cycle;IDA|GO:0006886;intracellular protein transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046326;positive regulation of glucose import;IMP|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005770;late endosome;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0016020;membrane;IDA|GO:0030130;clathrin coat of trans-Golgi network vesicle;IEA|GO:0030132;clathrin coat of coated pit;IEA|GO:0030135;coated vesicle;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA|GO:0097443;sorting endosome;IDA	GO:0004871;signal transducer activity;TAS|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLTCL1	https://www.uniprot.org/uniprot/P53675		https://www.ncbi.nlm.nih.gov/omim/?term=601273	http://www.informatics.jax.org/searchtool/Search.do?query=CLTCL1&submit=Quick%0D%1352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLTCL1	rs9306213	0	0	0	1	0	0	intronic	intronic	intronic	CLTCL1	CLTCL1	ENSG00000070371	Na	Na	Na	Na	Na	Na	Het;G>T	113;3|8	Hom;G>T	692;0|12
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19349590	19349590	G	C	snp	intronic	 	 	 	 	HIRA	Hira	ENSG00000100084	histone cell cycle regulator	chr22:19318221-19435224	This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]	Echocardiography; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a targeted null mutation exhibit disrupted gastrulation, malformations of axial and paraxial mesoendoderm, abnormal placentas, failure of cardiac development, and lethality by embryonic day 11.	Formation of Senescence-Associated Heterochromatin Foci (SAHF)	GO:0001649;osteoblast differentiation;IEA|GO:0006325;chromatin organization;IEA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007369;gastrulation;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0031935;regulation of chromatin silencing;IBA|GO:0042692;muscle cell differentiation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0016605;PML body;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HIRA	https://www.uniprot.org/uniprot/P54198	https://hpo.jax.org/app/browse/search?q=HIRA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600237	http://www.informatics.jax.org/searchtool/Search.do?query=HIRA&submit=Quick%0D%2399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIRA	rs916594	0.343051	0	0	1	0	0	intronic	intronic	intronic	HIRA	HIRA	ENSG00000100084,ENSG00000242259	Na	Na	Na	Na	Na	Na	Het;G>C	41;2|2	Hom;G>C	348;0|9
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19470249	19470249	G	A	snp	nonsynonymous SNV	G241A	V81I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CDC45	Cdc45	ENSG00000093009	cell division cycle 45	chr22:19466982-19508135	The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Colorectal Neoplasms|; Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder	Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile.	Activation of the pre-replicative complex	GO:0000076;DNA replication checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0031938;regulation of chromatin silencing at telomere;IBA|GO:0032508;DNA duplex unwinding;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IBA|GO:1902977;mitotic DNA replication preinitiation complex assembly;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0031261;DNA replication preinitiation complex;IBA|GO:0031298;replication fork protection complex;IBA	GO:0003682;chromatin binding;IBA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0043138;3'-5' DNA helicase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CDC45	https://www.uniprot.org/uniprot/O75419	https://hpo.jax.org/app/browse/search?q=CDC45&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603465	http://www.informatics.jax.org/searchtool/Search.do?query=CDC45&submit=Quick%0D%2212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC45	rs13447203	0.0061901	0.0078	0.0099	0.15	2	13	exonic	exonic	exonic	CDC45	CDC45	ENSG00000093009	nonsynonymous SNV	nonsynonymous SNV	unknown	CDC45:NM_001178010:exon4:c.G241A:p.V81I,CDC45:NM_003504:exon4:c.G241A:p.V81I,	CDC45:uc011agz.1:exon4:c.G226A:p.V76I,CDC45:uc011aha.2:exon4:c.G241A:p.V81I,CDC45:uc002zpr.3:exon4:c.G241A:p.V81I,	UNKNOWN	Het;G>A	1093;67|57	Hom;G>A	2137;0|81
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19495967	19495967	G	A	snp	intronic	 	 	 	 	CDC45	Cdc45	ENSG00000093009	cell division cycle 45	chr22:19466982-19508135	The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Colorectal Neoplasms|; Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder	Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile.	Activation of the pre-replicative complex	GO:0000076;DNA replication checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0031938;regulation of chromatin silencing at telomere;IBA|GO:0032508;DNA duplex unwinding;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IBA|GO:1902977;mitotic DNA replication preinitiation complex assembly;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0031261;DNA replication preinitiation complex;IBA|GO:0031298;replication fork protection complex;IBA	GO:0003682;chromatin binding;IBA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0043138;3'-5' DNA helicase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CDC45	https://www.uniprot.org/uniprot/O75419	https://hpo.jax.org/app/browse/search?q=CDC45&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603465	http://www.informatics.jax.org/searchtool/Search.do?query=CDC45&submit=Quick%0D%2212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC45	rs2073736	0.304313	0	0	1	0	0	intronic	intronic	intronic	CDC45	CDC45	ENSG00000093009	Na	Na	Na	Na	Na	Na	Het;G>A	248;24|13	Hom;G>A	1248;0|42
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19504318	19504318	G	A	snp	intronic	 	 	 	 	CDC45	Cdc45	ENSG00000093009	cell division cycle 45	chr22:19466982-19508135	The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Colorectal Neoplasms|; Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder	Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile.	Activation of the pre-replicative complex	GO:0000076;DNA replication checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0031938;regulation of chromatin silencing at telomere;IBA|GO:0032508;DNA duplex unwinding;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IBA|GO:1902977;mitotic DNA replication preinitiation complex assembly;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0031261;DNA replication preinitiation complex;IBA|GO:0031298;replication fork protection complex;IBA	GO:0003682;chromatin binding;IBA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0043138;3'-5' DNA helicase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CDC45	https://www.uniprot.org/uniprot/O75419	https://hpo.jax.org/app/browse/search?q=CDC45&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603465	http://www.informatics.jax.org/searchtool/Search.do?query=CDC45&submit=Quick%0D%2212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC45	rs2073733	0.303714	0.3577	0.4148	1	0	0	intronic	intronic	intronic	CDC45	CDC45	ENSG00000093009	Na	Na	Na	Na	Na	Na	Het;G>A	271;21|15	Hom;G>A	1231;0|49
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19506456	19506456	G	T	snp	intronic	 	 	 	 	CDC45	Cdc45	ENSG00000093009	cell division cycle 45	chr22:19466982-19508135	The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Colorectal Neoplasms|; Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder	Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile.	Activation of the pre-replicative complex	GO:0000076;DNA replication checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0031938;regulation of chromatin silencing at telomere;IBA|GO:0032508;DNA duplex unwinding;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IBA|GO:1902977;mitotic DNA replication preinitiation complex assembly;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0031261;DNA replication preinitiation complex;IBA|GO:0031298;replication fork protection complex;IBA	GO:0003682;chromatin binding;IBA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0043138;3'-5' DNA helicase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CDC45	https://www.uniprot.org/uniprot/O75419	https://hpo.jax.org/app/browse/search?q=CDC45&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603465	http://www.informatics.jax.org/searchtool/Search.do?query=CDC45&submit=Quick%0D%2212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC45	rs2073760	0.288339	0.3075	0.3814	1	0	0	intronic	intronic	intronic	CDC45	CDC45	ENSG00000093009	Na	Na	Na	Na	Na	Na	Het;G>T	706;43|36	Hom;G>T	2711;0|104
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19751829	19751829	C	T	snp	synonymous SNV	C664T	L222L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TBX1	Tbx1	ENSG00000184058	T-box 1	chr22:19744226-19771116	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	patent ductus arteriosus; congenital heart defects; heart anomalies, congenital; Chromosome Deletion; Cleft Lip|Cleft Palate; tetralogy of Fallot; null; Marijuana Abuse|Psychoses, Substance-Induced; Erythrocyte Count; Schizophrenia; DiGeorge syndrome	Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries.		GO:0001525;angiogenesis;ISS|GO:0001568;blood vessel development;ISS|GO:0001708;cell fate specification;ISS|GO:0001755;neural crest cell migration;ISS|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0001945;lymph vessel development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003007;heart morphogenesis;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0007389;pattern specification process;ISS|GO:0007498;mesoderm development;ISS|GO:0007507;heart development;IMP|GO:0007517;muscle organ development;ISS|GO:0007605;sensory perception of sound;ISS|GO:0008283;cell proliferation;ISS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0009952;anterior/posterior pattern specification;ISS|GO:0021644;vagus nerve morphogenesis;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030878;thyroid gland development;ISS|GO:0035176;social behavior;ISS|GO:0035909;aorta morphogenesis;ISS|GO:0042471;ear morphogenesis;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042473;outer ear morphogenesis;ISS|GO:0042474;middle ear morphogenesis;ISS|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0042693;muscle cell fate commitment;ISS|GO:0043410;positive regulation of MAPK cascade;ISS|GO:0043587;tongue morphogenesis;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;ISS|GO:0045596;negative regulation of cell differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048384;retinoic acid receptor signaling pathway;ISS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048538;thymus development;IMP|GO:0048644;muscle organ morphogenesis;ISS|GO:0048701;embryonic cranial skeleton morphogenesis;ISS|GO:0048703;embryonic viscerocranium morphogenesis;IMP|GO:0048752;semicircular canal morphogenesis;ISS|GO:0048844;artery morphogenesis;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0060017;parathyroid gland development;IMP|GO:0060023;soft palate development;IMP|GO:0060037;pharyngeal system development;IMP|GO:0060325;face morphogenesis;ISS|GO:0060415;muscle tissue morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;ISS|GO:0070166;enamel mineralization;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097152;mesenchymal cell apoptotic process;ISS|GO:2000027;regulation of organ morphogenesis;ISS|GO:2001037;positive regulation of tongue muscle cell differentiation;ISS|GO:2001054;negative regulation of mesenchymal cell apoptotic process;ISS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TBX1		https://hpo.jax.org/app/browse/search?q=TBX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602054	http://www.informatics.jax.org/searchtool/Search.do?query=TBX1&submit=Quick%0D%15129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX1	rs2301558	0.341254	0.3440	0.2806	1	0	0	exonic	exonic	exonic	TBX1	TBX1	ENSG00000184058	synonymous SNV	synonymous SNV	unknown	TBX1:NM_005992:exon5:c.C664T:p.L222L,TBX1:NM_080647:exon5:c.C664T:p.L222L,TBX1:NM_080646:exon5:c.C664T:p.L222L,	TBX1:uc002zqa.1:exon5:c.C664T:p.L222L,TBX1:uc002zqb.3:exon5:c.C664T:p.L222L,TBX1:uc002zqc.3:exon5:c.C664T:p.L222L,	UNKNOWN	Het;C>T	2383;132|107	Hom;C>T	5026;2|184
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19766782	19766782	C	T	snp	nonsynonymous SNV	C1049T	T350M	polar,hydrophilic,neutral	hydrophobic,neutral	TBX1	Tbx1	ENSG00000184058	T-box 1	chr22:19744226-19771116	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	patent ductus arteriosus; congenital heart defects; heart anomalies, congenital; Chromosome Deletion; Cleft Lip|Cleft Palate; tetralogy of Fallot; null; Marijuana Abuse|Psychoses, Substance-Induced; Erythrocyte Count; Schizophrenia; DiGeorge syndrome	Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries.		GO:0001525;angiogenesis;ISS|GO:0001568;blood vessel development;ISS|GO:0001708;cell fate specification;ISS|GO:0001755;neural crest cell migration;ISS|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0001945;lymph vessel development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003007;heart morphogenesis;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0007389;pattern specification process;ISS|GO:0007498;mesoderm development;ISS|GO:0007507;heart development;IMP|GO:0007517;muscle organ development;ISS|GO:0007605;sensory perception of sound;ISS|GO:0008283;cell proliferation;ISS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0009952;anterior/posterior pattern specification;ISS|GO:0021644;vagus nerve morphogenesis;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030878;thyroid gland development;ISS|GO:0035176;social behavior;ISS|GO:0035909;aorta morphogenesis;ISS|GO:0042471;ear morphogenesis;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042473;outer ear morphogenesis;ISS|GO:0042474;middle ear morphogenesis;ISS|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0042693;muscle cell fate commitment;ISS|GO:0043410;positive regulation of MAPK cascade;ISS|GO:0043587;tongue morphogenesis;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;ISS|GO:0045596;negative regulation of cell differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048384;retinoic acid receptor signaling pathway;ISS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048538;thymus development;IMP|GO:0048644;muscle organ morphogenesis;ISS|GO:0048701;embryonic cranial skeleton morphogenesis;ISS|GO:0048703;embryonic viscerocranium morphogenesis;IMP|GO:0048752;semicircular canal morphogenesis;ISS|GO:0048844;artery morphogenesis;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0060017;parathyroid gland development;IMP|GO:0060023;soft palate development;IMP|GO:0060037;pharyngeal system development;IMP|GO:0060325;face morphogenesis;ISS|GO:0060415;muscle tissue morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;ISS|GO:0070166;enamel mineralization;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097152;mesenchymal cell apoptotic process;ISS|GO:2000027;regulation of organ morphogenesis;ISS|GO:2001037;positive regulation of tongue muscle cell differentiation;ISS|GO:2001054;negative regulation of mesenchymal cell apoptotic process;ISS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TBX1		https://hpo.jax.org/app/browse/search?q=TBX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602054	http://www.informatics.jax.org/searchtool/Search.do?query=TBX1&submit=Quick%0D%15129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX1	rs4819522	0.209265	0.1725	0.2111	0.42	5	12	exonic	exonic	exonic	TBX1	TBX1	ENSG00000184058	nonsynonymous SNV	nonsynonymous SNV	unknown	TBX1:NM_080646:exon9:c.C1049T:p.T350M,	TBX1:uc002zqb.3:exon9:c.C1049T:p.T350M,	UNKNOWN	Het;C>T	1427;66|68	Hom;C>T	2982;0|109
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	19767051	19767051	G	T	snp	UTR3	*121G>T	 	 	 	TBX1	Tbx1	ENSG00000184058	T-box 1	chr22:19744226-19771116	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	patent ductus arteriosus; congenital heart defects; heart anomalies, congenital; Chromosome Deletion; Cleft Lip|Cleft Palate; tetralogy of Fallot; null; Marijuana Abuse|Psychoses, Substance-Induced; Erythrocyte Count; Schizophrenia; DiGeorge syndrome	Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries.		GO:0001525;angiogenesis;ISS|GO:0001568;blood vessel development;ISS|GO:0001708;cell fate specification;ISS|GO:0001755;neural crest cell migration;ISS|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0001945;lymph vessel development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003007;heart morphogenesis;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0007389;pattern specification process;ISS|GO:0007498;mesoderm development;ISS|GO:0007507;heart development;IMP|GO:0007517;muscle organ development;ISS|GO:0007605;sensory perception of sound;ISS|GO:0008283;cell proliferation;ISS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0009952;anterior/posterior pattern specification;ISS|GO:0021644;vagus nerve morphogenesis;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030878;thyroid gland development;ISS|GO:0035176;social behavior;ISS|GO:0035909;aorta morphogenesis;ISS|GO:0042471;ear morphogenesis;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042473;outer ear morphogenesis;ISS|GO:0042474;middle ear morphogenesis;ISS|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0042693;muscle cell fate commitment;ISS|GO:0043410;positive regulation of MAPK cascade;ISS|GO:0043587;tongue morphogenesis;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;ISS|GO:0045596;negative regulation of cell differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048384;retinoic acid receptor signaling pathway;ISS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048538;thymus development;IMP|GO:0048644;muscle organ morphogenesis;ISS|GO:0048701;embryonic cranial skeleton morphogenesis;ISS|GO:0048703;embryonic viscerocranium morphogenesis;IMP|GO:0048752;semicircular canal morphogenesis;ISS|GO:0048844;artery morphogenesis;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0060017;parathyroid gland development;IMP|GO:0060023;soft palate development;IMP|GO:0060037;pharyngeal system development;IMP|GO:0060325;face morphogenesis;ISS|GO:0060415;muscle tissue morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;ISS|GO:0070166;enamel mineralization;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097152;mesenchymal cell apoptotic process;ISS|GO:2000027;regulation of organ morphogenesis;ISS|GO:2001037;positive regulation of tongue muscle cell differentiation;ISS|GO:2001054;negative regulation of mesenchymal cell apoptotic process;ISS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TBX1		https://hpo.jax.org/app/browse/search?q=TBX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602054	http://www.informatics.jax.org/searchtool/Search.do?query=TBX1&submit=Quick%0D%15129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX1	rs5746826	0.592652	0	0	1	0	0	UTR3	UTR3	UTR3	TBX1(NM_080646:c.*121G>T)	TBX1(uc002zqb.3:c.*121G>T)	ENSG00000184058(ENST00000329705:c.*121G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	120;9|5	Hom;G>T	386;0|11
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20290949	20290949	G	A	snp	upstream	 	 	 	 	KIAA1653																		rs56185412	0.106629	0	0	1	0	0	intergenic	upstream	ncRNA_intronic	RTN4R(dist=35133),DGCR6L(dist=10812)	KIAA1653	ENSG00000161132	Na	Na	Na	Na	Na	Na	Het;G>A	105;3|5	Hom;G>A	156;0|7
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20295420	20295420	G	T	snp	ncRNA_exonic	 	 	 	 	AC007663.1																		rs4425183	0.256789	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	RTN4R(dist=39604),DGCR6L(dist=6341)	KIAA1653	ENSG00000161132	Na	Na	Na	Na	Na	Na	Het;G>T	901;35|43	Hom;G>T	1650;0|63
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20307256	20307256	G	A	snp	synonymous SNV	C177T	T59T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DGCR6L	Dgcr6	ENSG00000128185	DiGeorge syndrome critical region gene 6 like	chr22:20301799-20307603	This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]		 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DGCR6L	https://www.uniprot.org/uniprot/Q9BY27		https://www.ncbi.nlm.nih.gov/omim/?term=609459	http://www.informatics.jax.org/searchtool/Search.do?query=DGCR6L&submit=Quick%0D%6104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR6L	rs7235	0.239217	0.3454	0.3602	0.11	1	9	exonic	exonic	exonic	DGCR6L	DGCR6L	ENSG00000128185	synonymous SNV	synonymous SNV	unknown	DGCR6L:NM_033257:exon2:c.C177T:p.T59T,	DGCR6L:uc002zrx.3:exon2:c.C177T:p.T59T,DGCR6L:uc010gsc.3:exon2:c.C177T:p.T59T,	UNKNOWN	Het;G>A	1845;119|92	Hom;G>A	5129;2|192
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20716218	20716245	CGAGGACTCCGTATACGGCATCGCTAAT	C	indel	UTR3	*5232_*5259delinsC	 	 	 	AC007731.1																		Na	0	0	0	1	0	0	intergenic	intronic	UTR3	RIMBP3(dist=254432),ZNF74(dist=32160)	USP41	ENSG00000188280(ENST00000434783:c.*5232_*5259delinsC)	Na	Na	Na	Na	Na	Na	Het;-GAGGACTCCGTATACGGCATCGCTAAT	684;30|31	Hom;-GAGGACTCCGTATACGGCATCGCTAAT	2371;0|54
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20718692	20718692	G	A	snp	intronic	 	 	 	 	USP41	Usp18	ENSG00000161133	ubiquitin specific peptidase 41	chr22:20704868-20745048			Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS.	ISG15 antiviral mechanism	GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP41				http://www.informatics.jax.org/searchtool/Search.do?query=USP41&submit=Quick%0D%10559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP41	rs1807536	0.207468	0	0	1	0	0	intergenic	intronic	intronic	RIMBP3(dist=256906),ZNF74(dist=29713)	USP41	ENSG00000161133	Na	Na	Na	Na	Na	Na	Het;G>A	208;19|11	Hom;G>A	748;0|24
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20749813	20749813	G	A	snp	intronic	 	 	 	 	ZNF74	 	ENSG00000185252	zinc finger protein 74	chr22:20748405-20762745		schizophrenia	A subset of male chimeras hemizygous for a gene trapped allele exhibit embryonic growth retardation. Mice heterozygous and homozygous for a gene trap allele exhibit premature death.	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0007275;multicellular organism development;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0003723;RNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF74			https://www.ncbi.nlm.nih.gov/omim/?term=194548	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF74&submit=Quick%0D%15376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF74	rs569622702	0.00359425	0	0	1	0	0	intronic	intronic	intronic	ZNF74	ZNF74	ENSG00000185252	Na	Na	Na	Na	Na	Na	Het;G>A	192;2|9	Hom;G>A	227;0|8
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20754689	20754689	C	T	snp	intronic	 	 	 	 	ZNF74	 	ENSG00000185252	zinc finger protein 74	chr22:20748405-20762745		schizophrenia	A subset of male chimeras hemizygous for a gene trapped allele exhibit embryonic growth retardation. Mice heterozygous and homozygous for a gene trap allele exhibit premature death.	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0007275;multicellular organism development;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0003723;RNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF74			https://www.ncbi.nlm.nih.gov/omim/?term=194548	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF74&submit=Quick%0D%15376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF74	rs4546090	0.296126	0	0	1	0	0	intronic	intronic	intronic	ZNF74	ZNF74	ENSG00000185252	Na	Na	Na	Na	Na	Na	Het;C>T	115;3|6	Hom;C>T	107;0|5
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20779604	20779604	T	G	snp	UTR3	*61A>C	 	 	 	SCARF2	Scarf2	ENSG00000244486	scavenger receptor class F member 2	chr22:20778874-20792146	The protein encoded by this gene is similar to  SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic	 		GO:0006898;receptor-mediated endocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA	GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCARF2		https://hpo.jax.org/app/browse/search?q=SCARF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613619	http://www.informatics.jax.org/searchtool/Search.do?query=SCARF2&submit=Quick%0D%19851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCARF2	rs7286419	0.534944	0	0	1	0	0	UTR3	UTR3	UTR3	SCARF2(NM_153334:c.*61A>C,NM_182895:c.*61A>C)	SCARF2(uc002zsj.2:c.*61A>C,uc002zsk.2:c.*61A>C)	ENSG00000244486(ENST00000405555:c.*61A>C,ENST00000266214:c.*61A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	172;12|8	Hom;T>G	660;0|23
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20779768	20779768	G	C	snp	nonsynonymous SNV	C2494G	R832G	polar,hydrophilic,charged(+)	aliphatic,neutral	SCARF2	Scarf2	ENSG00000244486	scavenger receptor class F member 2	chr22:20778874-20792146	The protein encoded by this gene is similar to  SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic	 		GO:0006898;receptor-mediated endocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA	GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCARF2		https://hpo.jax.org/app/browse/search?q=SCARF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613619	http://www.informatics.jax.org/searchtool/Search.do?query=SCARF2&submit=Quick%0D%19851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCARF2	rs874101	0.534545	0.6539	0.5814	0.10	1	10	exonic	exonic	exonic	SCARF2	SCARF2	ENSG00000244486	nonsynonymous SNV	nonsynonymous SNV	unknown	SCARF2:NM_182895:exon12:c.C2494G:p.R832G,SCARF2:NM_153334:exon12:c.C2509G:p.R837G,	SCARF2:uc002zsj.2:exon11:c.C2510G:p.A837G,SCARF2:uc002zsk.2:exon11:c.C2495G:p.A832G,	UNKNOWN	Het;G>C	924;65|50	Hom;G>C	2595;0|96
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20791821	20791821	G	A	snp	intronic	 	 	 	 	SCARF2	Scarf2	ENSG00000244486	scavenger receptor class F member 2	chr22:20778874-20792146	The protein encoded by this gene is similar to  SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic	 		GO:0006898;receptor-mediated endocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA	GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCARF2		https://hpo.jax.org/app/browse/search?q=SCARF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613619	http://www.informatics.jax.org/searchtool/Search.do?query=SCARF2&submit=Quick%0D%19851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCARF2	rs9619753	0.331869	0.2354	0.3376	1	0	0	intronic	intronic	intronic	SCARF2	SCARF2	ENSG00000099910,ENSG00000244486	Na	Na	Na	Na	Na	Na	Het;G>A	226;8|12	Hom;G>A	229;1|11
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20942217	20942217	G	A	snp	ncRNA_exonic	 	 	 	 	CCDC74BP1																		rs2240029	0.1252	0	0	1	0	0	downstream	downstream	ncRNA_exonic	MED15	MED15	ENSG00000250261	Na	Na	Na	Na	Na	Na	Het;G>A	306;1|9	Hom;G>A	316;0|9
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20942219	20942219	A	AGT	indel	ncRNA_exonic	 	 	 	 	CCDC74BP1																		rs361870	0	0	0	1	0	0	downstream	downstream	ncRNA_exonic	MED15	MED15	ENSG00000250261	Na	Na	Na	Na	Na	Na	Het;+GT	297;1|7	Hom;+GT	307;0|8
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20959252	20959252	A	G	snp	ncRNA_exonic	 	 	 	 	SMPD4P1																		rs526942	0.432907	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MED15(dist=17333),POM121L4P(dist=84591)	MED15(dist=17333),BC035867(dist=11265)	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;A>G	417;16|19	Hom;A>G	1164;0|42
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20959349	20959350	TA	T	indel	ncRNA_exonic	 	 	 	 	SMPD4P1																		rs34877965	0.415136	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MED15(dist=17430),POM121L4P(dist=84493)	MED15(dist=17430),BC035867(dist=11167)	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;-A	871;8|26	Hom;-A	1899;0|50
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20960567	20960567	T	TG	indel	ncRNA_intronic	 	 	 	 	SMPD4P1																		rs34944089	0.210863	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MED15(dist=18648),POM121L4P(dist=83276)	MED15(dist=18648),BC035867(dist=9950)	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;+G	347;6|14	Hom;+G	439;0|15
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20961109	20961109	C	T	snp	ncRNA_exonic	 	 	 	 	SMPD4P1																		rs13340098	0.202676	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MED15(dist=19190),POM121L4P(dist=82734)	MED15(dist=19190),BC035867(dist=9408)	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;C>T	284;6|12	Hom;C>T	607;0|23
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20975690	20975690	A	G	snp	ncRNA_exonic	 	 	 	 	SMPD4P1																		rs623679	0.417532	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	MED15(dist=33771),POM121L4P(dist=68153)	BC035867	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;A>G	283;4|13	Hom;A>G	402;0|15
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20975866	20975870	TAATA	T	indel	ncRNA_exonic	 	 	 	 	SMPD4P1																		rs111319236	0.0557109	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	MED15(dist=33947),POM121L4P(dist=67973)	BC035867	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;-AATA	272;9|8	Hom;-AATA	638;0|15
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20976038	20976038	T	A	snp	ncRNA_exonic	 	 	 	 	SMPD4P1																		rs73386180	0.0796725	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	MED15(dist=34119),POM121L4P(dist=67805)	BC035867	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;T>A	118;6|7	Hom;T>A	463;0|18
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20980308	20980308	A	G	snp	ncRNA_intronic	 	 	 	 	BC035867																		rs1861078	0.363818	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	MED15(dist=38389),POM121L4P(dist=63535)	BC035867	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;A>G	106;7|4	Hom;A>G	326;0|10
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	20980559	20980559	G	T	snp	ncRNA_intronic	 	 	 	 	BC035867																		rs4822365	0.410343	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	MED15(dist=38640),POM121L4P(dist=63284)	BC035867	ENSG00000223553	Na	Na	Na	Na	Na	Na	Het;G>T	64;13|6	Hom;G>T	373;0|15
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21052265	21052265	G	C	snp	ncRNA_exonic	 	 	 	 	BCRP5																		rs3930342	0.439497	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	POM121L4P(dist=6256),TMEM191A(dist=3137)	DQ571461(dist=6229),TMEM191A(dist=3137)	ENSG00000235062	Na	Na	Na	Na	Na	Na	Het;G>C	2009;15|86	Hom;G>C	2865;15|117
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21058179	21058179	A	G	snp	ncRNA_exonic	 	 	 	 	TMEM191A																		rs6003975	0.410942	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	TMEM191A	TMEM191A	ENSG00000226287	Na	Na	Na	Na	Na	Na	Het;A>G	332;19|15	Hom;A>G	920;0|30
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21061985	21061985	C	T	snp	UTR3	*350G>A	 	 	 	PI4KA	Pi4ka	ENSG00000241973	phosphatidylinositol 4-kinase alpha	chr22:21061979-21213705	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]	Schizophrenia; bipolar disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Amphetamine-Related Disorders|	Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality.	Synthesis of PIPs at the Golgi membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;NAS|GO:0016310;phosphorylation;IDA|GO:0039694;viral RNA genome replication;IMP|GO:0044803;multi-organism membrane organization;IMP|GO:0046786;viral replication complex formation and maintenance;IMP|GO:0046854;phosphatidylinositol phosphorylation;ISS|GO:0048015;phosphatidylinositol-mediated signaling;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0019034;viral replication complex;IMP|GO:0030660;Golgi-associated vesicle membrane;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PI4KA		https://hpo.jax.org/app/browse/search?q=PI4KA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600286	http://www.informatics.jax.org/searchtool/Search.do?query=PI4KA&submit=Quick%0D%19701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4KA	rs5760136	0.11262	0	0	1	0	0	UTR3	UTR3	UTR3	PI4KA(NM_058004:c.*350G>A)	PI4KA(uc002zsy.4:c.*350G>A,uc002zsz.5:c.*350G>A)	ENSG00000241973(ENST00000255882:c.*350G>A,ENST00000414196:c.*350G>A,ENST00000572273:c.*350G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	324;27|14	Hom;C>T	985;0|37
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21064387	21064387	C	T	snp	intronic	 	 	 	 	PI4KA	Pi4ka	ENSG00000241973	phosphatidylinositol 4-kinase alpha	chr22:21061979-21213705	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]	Schizophrenia; bipolar disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Amphetamine-Related Disorders|	Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality.	Synthesis of PIPs at the Golgi membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;NAS|GO:0016310;phosphorylation;IDA|GO:0039694;viral RNA genome replication;IMP|GO:0044803;multi-organism membrane organization;IMP|GO:0046786;viral replication complex formation and maintenance;IMP|GO:0046854;phosphatidylinositol phosphorylation;ISS|GO:0048015;phosphatidylinositol-mediated signaling;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0019034;viral replication complex;IMP|GO:0030660;Golgi-associated vesicle membrane;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PI4KA		https://hpo.jax.org/app/browse/search?q=PI4KA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600286	http://www.informatics.jax.org/searchtool/Search.do?query=PI4KA&submit=Quick%0D%19701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4KA	rs5760150	0.107827	0	0	1	0	0	intronic	intronic	intronic	PI4KA	PI4KA	ENSG00000241973	Na	Na	Na	Na	Na	Na	Het;C>T	170;14|8	Hom;C>T	1005;0|34
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21153590	21153590	C	T	snp	intronic	 	 	 	 	PI4KA	Pi4ka	ENSG00000241973	phosphatidylinositol 4-kinase alpha	chr22:21061979-21213705	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]	Schizophrenia; bipolar disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Amphetamine-Related Disorders|	Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality.	Synthesis of PIPs at the Golgi membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;NAS|GO:0016310;phosphorylation;IDA|GO:0039694;viral RNA genome replication;IMP|GO:0044803;multi-organism membrane organization;IMP|GO:0046786;viral replication complex formation and maintenance;IMP|GO:0046854;phosphatidylinositol phosphorylation;ISS|GO:0048015;phosphatidylinositol-mediated signaling;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0019034;viral replication complex;IMP|GO:0030660;Golgi-associated vesicle membrane;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PI4KA		https://hpo.jax.org/app/browse/search?q=PI4KA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600286	http://www.informatics.jax.org/searchtool/Search.do?query=PI4KA&submit=Quick%0D%19701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4KA	rs165758	0.419129	0.3915	0.3577	1	0	0	intronic	intronic	intronic	PI4KA	PI4KA	ENSG00000241973	Na	Na	Na	Na	Na	Na	Het;C>T	379;16|16	Hom;C>T	877;0|29
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21167605	21167605	G	GACA	indel	intronic	 	 	 	 	PI4KA	Pi4ka	ENSG00000241973	phosphatidylinositol 4-kinase alpha	chr22:21061979-21213705	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]	Schizophrenia; bipolar disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Amphetamine-Related Disorders|	Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality.	Synthesis of PIPs at the Golgi membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;NAS|GO:0016310;phosphorylation;IDA|GO:0039694;viral RNA genome replication;IMP|GO:0044803;multi-organism membrane organization;IMP|GO:0046786;viral replication complex formation and maintenance;IMP|GO:0046854;phosphatidylinositol phosphorylation;ISS|GO:0048015;phosphatidylinositol-mediated signaling;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0019034;viral replication complex;IMP|GO:0030660;Golgi-associated vesicle membrane;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PI4KA		https://hpo.jax.org/app/browse/search?q=PI4KA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600286	http://www.informatics.jax.org/searchtool/Search.do?query=PI4KA&submit=Quick%0D%19701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4KA	rs362114	0.491414	0.4622	0.4234	1	0	0	intronic	intronic	intronic	PI4KA	PI4KA	ENSG00000241973	Na	Na	Na	Na	Na	Na	Het;+ACA	952;34|26	Hom;+ACA	3052;1|66
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21167787	21167787	G	A	snp	synonymous SNV	C864T	C288C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	PI4KA	Pi4ka	ENSG00000241973	phosphatidylinositol 4-kinase alpha	chr22:21061979-21213705	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]	Schizophrenia; bipolar disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Amphetamine-Related Disorders|	Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality.	Synthesis of PIPs at the Golgi membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;NAS|GO:0016310;phosphorylation;IDA|GO:0039694;viral RNA genome replication;IMP|GO:0044803;multi-organism membrane organization;IMP|GO:0046786;viral replication complex formation and maintenance;IMP|GO:0046854;phosphatidylinositol phosphorylation;ISS|GO:0048015;phosphatidylinositol-mediated signaling;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0019034;viral replication complex;IMP|GO:0030660;Golgi-associated vesicle membrane;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PI4KA		https://hpo.jax.org/app/browse/search?q=PI4KA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600286	http://www.informatics.jax.org/searchtool/Search.do?query=PI4KA&submit=Quick%0D%19701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4KA	rs165854	0.491414	0.4616	0.4233	1	0	0	exonic	exonic	exonic	PI4KA	PI4KA	ENSG00000241973	synonymous SNV	synonymous SNV	unknown	PI4KA:NM_058004:exon8:c.C864T:p.C288C,	PI4KA:uc002zsz.5:exon8:c.C864T:p.C288C,PI4KA:uc010gsq.2:exon8:c.C948T:p.C316C,	UNKNOWN	Het;G>A	1779;88|86	Hom;G>A	3421;1|131
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21241854	21241854	T	C	snp	intronic	 	 	 	 	SNAP29	Snap29	ENSG00000099940	synaptosome associated protein 29	chr22:21213271-21245506	This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]	Urogenital Abnormalities; several psychiatric disorders; schizophrenia	Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress.	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006903;vesicle targeting;TAS|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0016240;autophagosome docking;IDA|GO:0030030;cell projection organization;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0060271;cilium assembly;IMP|GO:0061025;membrane fusion;TAS|GO:0097352;autophagosome maturation;IMP	GO:0000139;Golgi membrane;TAS|GO:0000421;autophagosome membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SNAP29	https://www.uniprot.org/uniprot/O95721	https://hpo.jax.org/app/browse/search?q=SNAP29&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604202	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP29&submit=Quick%0D%2354ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP29	rs165877	0.401558	0	0	1	0	0	intronic	intronic	intronic	SNAP29	SNAP29	ENSG00000099940	Na	Na	Na	Na	Na	Na	Het;T>C	108;8|5	Hom;T>C	355;0|10
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21242544	21242544	A	G	snp	UTR3	*420A>G	 	 	 	SNAP29	Snap29	ENSG00000099940	synaptosome associated protein 29	chr22:21213271-21245506	This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]	Urogenital Abnormalities; several psychiatric disorders; schizophrenia	Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress.	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006903;vesicle targeting;TAS|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0016240;autophagosome docking;IDA|GO:0030030;cell projection organization;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0060271;cilium assembly;IMP|GO:0061025;membrane fusion;TAS|GO:0097352;autophagosome maturation;IMP	GO:0000139;Golgi membrane;TAS|GO:0000421;autophagosome membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SNAP29	https://www.uniprot.org/uniprot/O95721	https://hpo.jax.org/app/browse/search?q=SNAP29&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604202	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP29&submit=Quick%0D%2354ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP29	rs178077	0.426717	0	0	1	0	0	UTR3	UTR3	UTR3	SNAP29(NM_004782:c.*420A>G)	SNAP29(uc011ahw.2:c.*420A>G)	ENSG00000099940(ENST00000215730:c.*420A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	233;22|10	Hom;A>G	915;0|28
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21243253	21243253	T	C	snp	UTR3	*1129T>C	 	 	 	SNAP29	Snap29	ENSG00000099940	synaptosome associated protein 29	chr22:21213271-21245506	This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]	Urogenital Abnormalities; several psychiatric disorders; schizophrenia	Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress.	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006903;vesicle targeting;TAS|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0016240;autophagosome docking;IDA|GO:0030030;cell projection organization;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0060271;cilium assembly;IMP|GO:0061025;membrane fusion;TAS|GO:0097352;autophagosome maturation;IMP	GO:0000139;Golgi membrane;TAS|GO:0000421;autophagosome membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SNAP29	https://www.uniprot.org/uniprot/O95721	https://hpo.jax.org/app/browse/search?q=SNAP29&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604202	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP29&submit=Quick%0D%2354ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP29	rs165801	0.426118	0	0	1	0	0	UTR3	UTR3	UTR3	SNAP29(NM_004782:c.*1129T>C)	SNAP29(uc011ahw.2:c.*1129T>C)	ENSG00000099940(ENST00000215730:c.*1129T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	500;49|29	Hom;T>C	1399;1|52
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21243643	21243643	T	C	snp	UTR3	*1519T>C	 	 	 	SNAP29	Snap29	ENSG00000099940	synaptosome associated protein 29	chr22:21213271-21245506	This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]	Urogenital Abnormalities; several psychiatric disorders; schizophrenia	Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress.	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006903;vesicle targeting;TAS|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0016240;autophagosome docking;IDA|GO:0030030;cell projection organization;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0060271;cilium assembly;IMP|GO:0061025;membrane fusion;TAS|GO:0097352;autophagosome maturation;IMP	GO:0000139;Golgi membrane;TAS|GO:0000421;autophagosome membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SNAP29	https://www.uniprot.org/uniprot/O95721	https://hpo.jax.org/app/browse/search?q=SNAP29&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604202	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP29&submit=Quick%0D%2354ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP29	rs165861	0.409744	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	SNAP29(NM_004782:c.*1519T>C)	SNAP29(uc011ahw.2:c.*1519T>C)	ENSG00000272600	Na	Na	Na	Na	Na	Na	Het;T>C	627;26|29	Hom;T>C	1417;0|52
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21244385	21244385	G	T	snp	UTR3	*2261G>T	 	 	 	SNAP29	Snap29	ENSG00000099940	synaptosome associated protein 29	chr22:21213271-21245506	This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]	Urogenital Abnormalities; several psychiatric disorders; schizophrenia	Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress.	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006903;vesicle targeting;TAS|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0016240;autophagosome docking;IDA|GO:0030030;cell projection organization;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0060271;cilium assembly;IMP|GO:0061025;membrane fusion;TAS|GO:0097352;autophagosome maturation;IMP	GO:0000139;Golgi membrane;TAS|GO:0000421;autophagosome membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SNAP29	https://www.uniprot.org/uniprot/O95721	https://hpo.jax.org/app/browse/search?q=SNAP29&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604202	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP29&submit=Quick%0D%2354ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP29	rs165744	0.410343	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	SNAP29(NM_004782:c.*2261G>T)	SNAP29(uc011ahw.2:c.*2261G>T)	ENSG00000272600	Na	Na	Na	Na	Na	Na	Het;G>T	350;35|19	Hom;G>T	1880;0|69
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21330787	21330787	C	T	snp	synonymous SNV	C990T	A330A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AIFM3	Aifm3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3	rs7285694	0.191294	0.2717	0.2415	1	0	0	exonic	exonic	exonic	AIFM3	AIFM3	ENSG00000183773	synonymous SNV	synonymous SNV	unknown	AIFM3:NM_001146288:exon11:c.C1008T:p.A336A,AIFM3:NM_144704:exon11:c.C990T:p.A330A,AIFM3:NM_001018060:exon11:c.C990T:p.A330A,	AIFM3:uc002ztk.2:exon11:c.C990T:p.A330A,AIFM3:uc002ztj.2:exon11:c.C990T:p.A330A,AIFM3:uc002ztl.2:exon11:c.C1008T:p.A336A,AIFM3:uc011ahx.1:exon10:c.C954T:p.A318A,	UNKNOWN	Het;C>T	1610;62|69	Hom;C>T	2855;2|104
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21331504	21331504	T	TG	indel	intronic	 	 	 	 	AIFM3	Aifm3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3	rs67757517	0	0	0	1	0	0	intronic	intronic	intronic	AIFM3	AIFM3	ENSG00000183773	Na	Na	Na	Na	Na	Na	Het;+G	96;7|4	Hom;+G	393;0|10
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21331509	21331509	A	C	snp	intronic	 	 	 	 	AIFM3	Aifm3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3	rs115738595	0	0	0	1	0	0	intronic	intronic	intronic	AIFM3	AIFM3	ENSG00000183773	Na	Na	Na	Na	Na	Na	Het;A>C	105;7|3	Hom;A>C	402;0|9
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21331918	21331918	C	G	snp	intronic	 	 	 	 	AIFM3	Aifm3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3	rs178275	0.348043	0	0	1	0	0	intronic	intronic	intronic	AIFM3	AIFM3	ENSG00000183773	Na	Na	Na	Na	Na	Na	Het;C>G	726;35|33	Hom;C>G	1631;0|52
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21332122	21332122	G	A	snp	intronic	 	 	 	 	AIFM3	Aifm3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3	rs178277	0.347244	0.3616	0	1	0	0	intronic	intronic	intronic	AIFM3	AIFM3	ENSG00000183773	Na	Na	Na	Na	Na	Na	Het;G>A	1788;79|81	Hom;G>A	4552;2|156
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21334924	21334924	G	C	snp	intronic	 	 	 	 	AIFM3	Aifm3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3	rs105034	0.342652	0	0	1	0	0	intronic	intronic	intronic	AIFM3	AIFM3,LZTR1	ENSG00000183773	Na	Na	Na	Na	Na	Na	Het;G>C	166;5|8	Hom;G>C	270;0|8
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21335259	21335259	C	A	snp	intronic	 	 	 	 	AIFM3	Aifm3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3	rs178278	0.340256	0.3440	0.3930	1	0	0	intronic	intronic	intronic	AIFM3	AIFM3,LZTR1	ENSG00000183773	Na	Na	Na	Na	Na	Na	Het;C>A	704;27|31	Hom;C>A	1751;0|62
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21337266	21337266	G	A	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs178280	0.357428	0.3721	0.4203	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;G>A	1031;38|47	Hom;G>A	1635;0|58
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21343992	21343998	GGGCGCA	G	indel	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs750229323	0	0	0.6178	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;-GGCGCA	772;36|22	Hom;-GGCGCA	1857;0|45
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21344001	21344032	TAGAGGAGGTGAGGGGCACGGGGAGCCAGGGC	T	indel	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs779746818	0	0	0.6210	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;-AGAGGAGGTGAGGGGCACGGGGAGCCAGGGC	770;36|22	Hom;-AGAGGAGGTGAGGGGCACGGGGAGCCAGGGC	1882;0|46
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21344592	21344592	A	C	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs55660821	0.428714	0	0	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;A>C	517;25|17	Hom;A>C	1172;0|38
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21344884	21344884	C	T	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs2073989	0.1875	0	0	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;C>T	793;33|38	Hom;C>T	1763;1|68
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21344905	21344905	A	G	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs178290	0.712061	0	0	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;A>G	462;29|23	Hom;A>G	923;0|33
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21344920	21344920	G	C	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs17820542	0.413738	0	0	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;G>C	368;21|18	Hom;G>C	833;0|28
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21346277	21346277	C	T	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs62238541	0.185703	0	0	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;C>T	73;3|4	Hom;C>T	151;0|5
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21346485	21346485	T	C	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs112544	0.64397	0.7312	0.7070	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;T>C	1449;62|71	Hom;T>C	2281;0|81
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21346719	21346719	A	C	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs756876	0.591653	0	0	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;A>C	986;30|40	Hom;A>C	1703;0|58
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21348084	21348084	T	C	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs178291	0.743011	0.7799	0.7534	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;T>C	423;22|22	Hom;T>C	1414;0|51
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21349037	21349037	A	G	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs178292	0.752196	0.8031	0.7544	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;A>G	837;50|40	Hom;A>G	1938;0|70
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21350461	21350461	A	G	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs178294	0.754393	0	0	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;A>G	623;25|28	Hom;A>G	1326;0|46
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21350936	21350936	G	A	snp	intronic	 	 	 	 	LZTR1	Lztr1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1	rs11704198	0.208666	0.3164	0.2913	1	0	0	intronic	intronic	intronic	LZTR1	LZTR1	ENSG00000099949	Na	Na	Na	Na	Na	Na	Het;G>A	213;19|11	Hom;G>A	659;0|24
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21357006	21357006	C	T	snp	ncRNA_exonic	 	 	 	 	THAP7-AS1																		rs4822808	0.185703	0	0.2500	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	THAP7-AS1	THAP7-AS1	ENSG00000230513	Na	Na	Na	Na	Na	Na	Het;C>T	126;5|6	Hom;C>T	224;0|8
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21357624	21357627	TGAC	T	indel	ncRNA_intronic	 	 	 	 	THAP7-AS1																		rs71797613	0.275559	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	THAP7-AS1	THAP7-AS1	ENSG00000161149,ENSG00000230513	Na	Na	Na	Na	Na	Na	Het;-GAC	313;16|10	Hom;-GAC	897;0|21
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21357664	21357667	TCTC	T	indel	ncRNA_intronic	 	 	 	 	THAP7-AS1																		rs143711904	0.185703	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	THAP7-AS1	THAP7-AS1	ENSG00000161149,ENSG00000230513	Na	Na	Na	Na	Na	Na	Het;-CTC	83;2|3	Hom;-CTC	458;0|11
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21362474	21362474	A	C	snp	ncRNA_intronic	 	 	 	 	THAP7-AS1																		rs2516536	0.275359	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	THAP7-AS1	THAP7-AS1	ENSG00000161149,ENSG00000230513	Na	Na	Na	Na	Na	Na	Het;A>C	106;21|8	Hom;A>C	502;0|21
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21362720	21362720	T	C	snp	ncRNA_exonic	 	 	 	 	TUBA3FP																		rs383737	0.525958	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TUBA3FP	TUBA3FP	ENSG00000161149	Na	Na	Na	Na	Na	Na	Het;T>C	148;3|5	Hom;T>C	625;0|18
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21363306	21363306	G	A	snp	ncRNA_exonic	 	 	 	 	THAP7-AS1																		rs2075274	0.1875	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	THAP7-AS1,TUBA3FP	THAP7-AS1,TUBA3FP	ENSG00000161149,ENSG00000230513	Na	Na	Na	Na	Na	Na	Het;G>A	1392;109|70	Hom;G>A	4159;1|157
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21363392	21363392	G	A	snp	ncRNA_exonic	 	 	 	 	THAP7-AS1																		rs28522842	0.276358	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	THAP7-AS1,TUBA3FP	THAP7-AS1,TUBA3FP	ENSG00000161149,ENSG00000230513	Na	Na	Na	Na	Na	Na	Het;G>A	1509;61|69	Hom;G>A	3636;1|138
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21363744	21363744	T	C	snp	ncRNA_exonic;splicing	 	 	 	 	ENSG00000230513																		rs2075276	0.27516	0	0	1	0	0	ncRNA_exonic;splicing	ncRNA_exonic;splicing	ncRNA_exonic;splicing	THAP7-AS1;TUBA3FP(NR_003608:exon3:c.714-2A>G)	THAP7-AS1;TUBA3FP(uc002zty.4:exon3:c.714-2A>G)	ENSG00000230513;ENSG00000161149(ENST00000422086:exon3:c.714-2A>G,ENST00000292748:exon4:c.862-2A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	190;19|10	Hom;T>C	1264;0|43
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21365384	21365384	A	G	snp	ncRNA_intronic	 	 	 	 	TUBA3FP																		rs399647	0.525559	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TUBA3FP	TUBA3FP	ENSG00000161149	Na	Na	Na	Na	Na	Na	Het;A>G	1047;30|28	Hom;A>G	2235;0|51
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21365387	21365387	G	A	snp	ncRNA_intronic	 	 	 	 	TUBA3FP																		rs62240968	0.187899	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TUBA3FP	TUBA3FP	ENSG00000161149	Na	Na	Na	Na	Na	Na	Het;G>A	1047;30|28	Hom;G>A	2235;0|51
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21365759	21365759	G	A	snp	ncRNA_exonic	 	 	 	 	TUBA3FP																		rs146547300	0.188099	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TUBA3FP	TUBA3FP	ENSG00000161149	Na	Na	Na	Na	Na	Na	Het;G>A	337;26|17	Hom;G>A	934;0|32
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21366074	21366074	G	T	snp	ncRNA_intronic	 	 	 	 	TUBA3FP																		rs62240969	0.188099	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TUBA3FP	TUBA3FP	ENSG00000161149	Na	Na	Na	Na	Na	Na	Het;G>T	706;44|36	Hom;G>T	2046;1|79
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21366164	21366164	A	G	snp	ncRNA_intronic	 	 	 	 	TUBA3FP																		rs408288	0.591853	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TUBA3FP	TUBA3FP	ENSG00000161149	Na	Na	Na	Na	Na	Na	Het;A>G	690;32|33	Hom;A>G	1545;0|50
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21369676	21369676	G	C	snp	intronic	 	 	 	 	P2RX6	P2rx6	ENSG00000099957	purinergic receptor P2X 6	chr22:21364097-21383119	The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]	Celiac Disease|; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Hypertension	Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures.	Platelet homeostasis	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0033198;response to ATP;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0051260;protein homooligomerization;IPI|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0098794;postsynapse;IEA	GO:0001614;purinergic nucleotide receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004931;extracellular ATP-gated cation channel activity;NAS|GO:0005216;ion channel activity;IEA|GO:0005524;ATP binding;NAS|GO:0015267;channel activity;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/P2RX6	https://www.uniprot.org/uniprot/O15547		https://www.ncbi.nlm.nih.gov/omim/?term=608077	http://www.informatics.jax.org/searchtool/Search.do?query=P2RX6&submit=Quick%0D%2360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX6	rs3893495	0.224441	0	0.3316	1	0	0	intronic	intronic	intronic	P2RX6	P2RX6	ENSG00000099957	Na	Na	Na	Na	Na	Na	Het;G>C	245;16|13	Hom;G>C	813;0|32
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21372467	21372467	C	G	snp	UTR3	*204C>G	 	 	 	P2RX6	P2rx6	ENSG00000099957	purinergic receptor P2X 6	chr22:21364097-21383119	The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]	Celiac Disease|; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Hypertension	Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures.	Platelet homeostasis	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0033198;response to ATP;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0051260;protein homooligomerization;IPI|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0098794;postsynapse;IEA	GO:0001614;purinergic nucleotide receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004931;extracellular ATP-gated cation channel activity;NAS|GO:0005216;ion channel activity;IEA|GO:0005524;ATP binding;NAS|GO:0015267;channel activity;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/P2RX6	https://www.uniprot.org/uniprot/O15547		https://www.ncbi.nlm.nih.gov/omim/?term=608077	http://www.informatics.jax.org/searchtool/Search.do?query=P2RX6&submit=Quick%0D%2360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX6	rs2073599	0.458267	0	0	1	0	0	intronic	UTR3	intronic	P2RX6	P2RX6(uc010gst.1:c.*204C>G)	ENSG00000099957	Na	Na	Na	Na	Na	Na	Het;C>G	231;6|8	Hom;C>G	348;0|9
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21377071	21377071	C	T	snp	intronic	 	 	 	 	P2RX6	P2rx6	ENSG00000099957	purinergic receptor P2X 6	chr22:21364097-21383119	The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]	Celiac Disease|; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Hypertension	Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures.	Platelet homeostasis	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0033198;response to ATP;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0051260;protein homooligomerization;IPI|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0098794;postsynapse;IEA	GO:0001614;purinergic nucleotide receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004931;extracellular ATP-gated cation channel activity;NAS|GO:0005216;ion channel activity;IEA|GO:0005524;ATP binding;NAS|GO:0015267;channel activity;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/P2RX6	https://www.uniprot.org/uniprot/O15547		https://www.ncbi.nlm.nih.gov/omim/?term=608077	http://www.informatics.jax.org/searchtool/Search.do?query=P2RX6&submit=Quick%0D%2360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX6	rs9613540	0.133387	0.2300	0.2289	1	0	0	intronic	intronic	intronic	P2RX6	P2RX6	ENSG00000099957	Na	Na	Na	Na	Na	Na	Het;C>T	263;23|15	Hom;C>T	1108;0|45
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21385985	21385985	C	T	snp	synonymous SNV	G117A	T39T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC7A4	Slc7a4	ENSG00000099960	solute carrier family 7 member 4	chr22:21383007-21387129			 		GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:1990822;basic amino acid transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015174;basic amino acid transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A4	https://www.uniprot.org/uniprot/O43246		https://www.ncbi.nlm.nih.gov/omim/?term=603752	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A4&submit=Quick%0D%2362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A4	rs402931	0.113019	0.2237	0.2175	1	0	0	exonic	exonic	exonic	SLC7A4	SLC7A4	ENSG00000099960	synonymous SNV	synonymous SNV	unknown	SLC7A4:NM_004173:exon2:c.G117A:p.T39T,	SLC7A4:uc002zue.3:exon2:c.G117A:p.T39T,SLC7A4:uc002zud.3:exon2:c.G117A:p.T39T,	UNKNOWN	Het;C>T	1571;58|72	Hom;C>T	3739;0|138
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21406460	21406460	G	A	snp	ncRNA_intronic	 	 	 	 	LOC400891																		rs117587161	0.0153754	0	0	1	0	0	intronic	ncRNA_intronic	intronic	LRRC74B	LOC400891	ENSG00000187905	Na	Na	Na	Na	Na	Na	Het;G>A	142;6|7	Hom;G>A	547;0|21
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	21469148	21469148	T	TA	indel	ncRNA_exonic	 	 	 	 	AP000550.1																		rs537019424	0.670327	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	BCRP2	AL117485	ENSG00000197210	Na	Na	Na	Na	Na	Na	Het;+A	3162;60|134	Hom;+A	3438;4|125
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22026646	22026646	C	T	snp	synonymous SNV	C219T	Y73Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	PPIL2	Ppil2	ENSG00000100023	peptidylprolyl isomerase like 2	chr22:22006559-22054304	This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Alzheimer's disease 	 	Basigin interactions	GO:0000209;protein polyubiquitination;IDA|GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0016567;protein ubiquitination;IEA|GO:0050900;leukocyte migration;TAS|GO:0072659;protein localization to plasma membrane;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IDA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPIL2	https://www.uniprot.org/uniprot/Q13356		https://www.ncbi.nlm.nih.gov/omim/?term=607588	http://www.informatics.jax.org/searchtool/Search.do?query=PPIL2&submit=Quick%0D%2377ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIL2	rs773717734	0	0	9.068e-05	1	0	0	exonic	exonic	exonic	PPIL2	PPIL2	ENSG00000100023	synonymous SNV	synonymous SNV	unknown	PPIL2:NM_148175:exon5:c.C219T:p.Y73Y,PPIL2:NM_014337:exon5:c.C219T:p.Y73Y,PPIL2:NM_148176:exon5:c.C219T:p.Y73Y,	PPIL2:uc002zvi.4:exon5:c.C219T:p.Y73Y,PPIL2:uc011aij.2:exon4:c.C156T:p.Y52Y,PPIL2:uc010gtj.1:exon5:c.C219T:p.Y73Y,PPIL2:uc002zvg.4:exon5:c.C219T:p.Y73Y,PPIL2:uc002zvh.4:exon5:c.C219T:p.Y73Y,	UNKNOWN	Het;C>T	337;42|21	Hom;C>T	1318;0|49
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22042918	22042918	C	T	snp	intronic	 	 	 	 	PPIL2	Ppil2	ENSG00000100023	peptidylprolyl isomerase like 2	chr22:22006559-22054304	This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Alzheimer's disease 	 	Basigin interactions	GO:0000209;protein polyubiquitination;IDA|GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0016567;protein ubiquitination;IEA|GO:0050900;leukocyte migration;TAS|GO:0072659;protein localization to plasma membrane;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IDA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPIL2	https://www.uniprot.org/uniprot/Q13356		https://www.ncbi.nlm.nih.gov/omim/?term=607588	http://www.informatics.jax.org/searchtool/Search.do?query=PPIL2&submit=Quick%0D%2377ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIL2	rs2278118	0.238019	0	0	1	0	0	intronic	intronic	intronic	PPIL2	PPIL2	ENSG00000100023	Na	Na	Na	Na	Na	Na	Het;C>T	235;1|9	Hom;C>T	699;0|24
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22287862	22287862	G	A	snp	synonymous SNV	C648T	N216N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PPM1F	Ppm1f	ENSG00000100034	protein phosphatase, Mg2+/Mn2+ dependent 1F	chr22:22273793-22307209	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold.		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0016576;histone dephosphorylation;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IDA|GO:0035690;cellular response to drug;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045927;positive regulation of growth;IMP|GO:0050921;positive regulation of chemotaxis;IMP|GO:0051496;positive regulation of stress fiber assembly;IDA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0097193;intrinsic apoptotic signaling pathway;IDA	GO:0005829;cytosol;IDA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPM1F	https://www.uniprot.org/uniprot/P49593			http://www.informatics.jax.org/searchtool/Search.do?query=PPM1F&submit=Quick%0D%2385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1F	rs2027789	0.247005	0.3551	0.3137	1	0	0	exonic	exonic	exonic	PPM1F	PPM1F	ENSG00000100034	synonymous SNV	synonymous SNV	unknown	PPM1F:NM_014634:exon5:c.C648T:p.N216N,	PPM1F:uc002zvp.2:exon5:c.C648T:p.N216N,PPM1F:uc011aik.2:exon3:c.C336T:p.N112N,PPM1F:uc002zvq.3:exon5:c.C648T:p.N216N,	UNKNOWN	Het;G>A	1245;61|61	Hom;G>A	3262;2|128
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22287964	22287964	T	C	snp	intronic	 	 	 	 	PPM1F	Ppm1f	ENSG00000100034	protein phosphatase, Mg2+/Mn2+ dependent 1F	chr22:22273793-22307209	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold.		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0016576;histone dephosphorylation;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IDA|GO:0035690;cellular response to drug;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045927;positive regulation of growth;IMP|GO:0050921;positive regulation of chemotaxis;IMP|GO:0051496;positive regulation of stress fiber assembly;IDA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0097193;intrinsic apoptotic signaling pathway;IDA	GO:0005829;cytosol;IDA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPM1F	https://www.uniprot.org/uniprot/P49593			http://www.informatics.jax.org/searchtool/Search.do?query=PPM1F&submit=Quick%0D%2385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1F	rs2027790	0.34385	0.4139	0.3765	1	0	0	intronic	intronic	intronic	PPM1F	PPM1F	ENSG00000100034	Na	Na	Na	Na	Na	Na	Het;T>C	768;30|35	Hom;T>C	1464;0|55
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22288309	22288309	T	C	snp	intronic	 	 	 	 	PPM1F	Ppm1f	ENSG00000100034	protein phosphatase, Mg2+/Mn2+ dependent 1F	chr22:22273793-22307209	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold.		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0016576;histone dephosphorylation;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IDA|GO:0035690;cellular response to drug;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045927;positive regulation of growth;IMP|GO:0050921;positive regulation of chemotaxis;IMP|GO:0051496;positive regulation of stress fiber assembly;IDA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0097193;intrinsic apoptotic signaling pathway;IDA	GO:0005829;cytosol;IDA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPM1F	https://www.uniprot.org/uniprot/P49593			http://www.informatics.jax.org/searchtool/Search.do?query=PPM1F&submit=Quick%0D%2385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1F	rs94194	0.531949	0	0	1	0	0	intronic	intronic	intronic	PPM1F	PPM1F	ENSG00000100034	Na	Na	Na	Na	Na	Na	Het;T>C	347;5|15	Hom;T>C	732;0|23
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22313733	22313733	G	A	snp	UTR3	*1722C>T	 	 	 	TOP3B	Top3b	ENSG00000100038	topoisomerase (DNA) III beta	chr22:22311397-22337213	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]	Myocardial Infarction	Homozygous null mice develop to maturity but die prematurely showing enlargement of lymphatic organs and glomerulonephritis. Intercrossing of mutant mice progressively results in infertility that is correlated to increased aneuploidy in germ cells.		GO:0006265;DNA topological change;IEA|GO:0007059;chromosome segregation;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;TAS	GO:0003677;DNA binding;TAS|GO:0003723;RNA binding;IDA|GO:0003916;DNA topoisomerase activity;TAS|GO:0003917;DNA topoisomerase type I activity;IEA|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TOP3B	https://www.uniprot.org/uniprot/O95985		https://www.ncbi.nlm.nih.gov/omim/?term=603582	http://www.informatics.jax.org/searchtool/Search.do?query=TOP3B&submit=Quick%0D%2387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP3B	rs75104161	0.052516	0	0	1	0	0	intronic	intronic	UTR3	TOP3B	TOP3B	ENSG00000100038(ENST00000444502:c.*1722C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	103;3|4	Hom;G>A	280;0|9
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22398127	22398127	C	T	snp	ncRNA_exonic	 	 	 	 	PRAMENP																		rs986645	0.630791	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TOP3B(dist=60887),VPREB1(dist=201065)	AK131325	ENSG00000197549,ENSG00000253794	Na	Na	Na	Na	Na	Na	Het;C>T	1109;22|45	Hom;C>T	1122;1|41
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22471884	22471884	T	C	snp	ncRNA_exonic	 	 	 	 	ENSG00000182502																		rs1934535	0.325679	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	TOP3B(dist=134644),VPREB1(dist=127308)	abParts	ENSG00000182502	Na	Na	Na	Na	Na	Na	Het;T>C	401;17|15	Hom;T>C	711;0|23
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22471985	22471985	A	G	snp	ncRNA_exonic	 	 	 	 	ENSG00000182502																		rs6000999	0.342652	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	TOP3B(dist=134745),VPREB1(dist=127207)	abParts	ENSG00000182502	Na	Na	Na	Na	Na	Na	Het;A>G	1143;58|53	Hom;A>G	2470;0|88
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22472029	22472029	T	C	snp	ncRNA_exonic	 	 	 	 	ENSG00000182502																		rs6001000	0.342452	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	TOP3B(dist=134789),VPREB1(dist=127163)	abParts	ENSG00000182502	Na	Na	Na	Na	Na	Na	Het;T>C	1063;67|50	Hom;T>C	2033;0|74
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22472059	22472059	A	G	snp	ncRNA_exonic	 	 	 	 	ENSG00000182502																		rs8136946	0.342452	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	TOP3B(dist=134819),VPREB1(dist=127133)	abParts	ENSG00000182502	Na	Na	Na	Na	Na	Na	Het;A>G	826;71|42	Hom;A>G	1931;0|68
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22472099	22472099	G	A	snp	ncRNA_exonic	 	 	 	 	ENSG00000182502																		rs8135482	0.315296	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	TOP3B(dist=134859),VPREB1(dist=127093)	abParts	ENSG00000182502	Na	Na	Na	Na	Na	Na	Het;G>A	524;63|27	Hom;G>A	1379;0|49
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22472191	22472191	T	C	snp	ncRNA_exonic	 	 	 	 	ENSG00000182502																		rs149448276	0.302716	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	TOP3B(dist=134951),VPREB1(dist=127001)	abParts	ENSG00000182502	Na	Na	Na	Na	Na	Na	Het;T>C	219;25|12	Hom;T>C	775;0|30
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22472213	22472213	A	G	snp	ncRNA_exonic	 	 	 	 	ENSG00000182502																		rs143883272	0.324681	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	TOP3B(dist=134973),VPREB1(dist=126979)	abParts	ENSG00000182502	Na	Na	Na	Na	Na	Na	Het;A>G	66;21|6	Hom;A>G	449;0|18
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22661055	22661055	A	G	snp	ncRNA_intronic	 	 	 	 	LOC96610																		rs8139186	0.441893	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	BMS1P20	LOC96610,abParts	ENSG00000236850,ENSG00000272779	Na	Na	Na	Na	Na	Na	Het;A>G	161;2|5	Hom;A>G	234;0|8
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22890492	22890492	G	A	snp	synonymous SNV	C1527T	N509N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRAME	 	ENSG00000275013	preferentially expressed antigen in melanoma	chr22:22890123-22901768	This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0030154;cell differentiation;IEA|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045596;negative regulation of cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0042974;retinoic acid receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRAME			https://www.ncbi.nlm.nih.gov/omim/?term=606021	http://www.informatics.jax.org/searchtool/Search.do?query=PRAME&submit=Quick%0D%21252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAME	rs13604	0.0527157	0.1156	0.1122	1	0	0	exonic	exonic	exonic	PRAME	PRAME	ENSG00000185686	synonymous SNV	synonymous SNV	unknown	PRAME:NM_206955:exon6:c.C1527T:p.N509N,PRAME:NM_001291716:exon5:c.C1527T:p.N509N,PRAME:NM_001291719:exon4:c.C1479T:p.N493N,PRAME:NM_001291717:exon5:c.C1479T:p.N493N,PRAME:NM_001291715:exon5:c.C1527T:p.N509N,PRAME:NM_206956:exon6:c.C1527T:p.N509N,PRAME:NM_206954:exon6:c.C1527T:p.N509N,PRAME:NM_006115:exon6:c.C1527T:p.N509N,PRAME:NM_206953:exon5:c.C1527T:p.N509N,	PRAME:uc002zwk.3:exon5:c.C1527T:p.N509N,PRAME:uc002zwg.3:exon6:c.C1527T:p.N509N,PRAME:uc002zwi.3:exon6:c.C1527T:p.N509N,PRAME:uc002zwf.3:exon5:c.C1527T:p.N509N,PRAME:uc010gtr.3:exon5:c.C1527T:p.N509N,PRAME:uc002zwh.3:exon6:c.C1527T:p.N509N,PRAME:uc002zwj.3:exon6:c.C1527T:p.N509N,PRAME:uc011air.2:exon4:c.C1479T:p.N493N,	UNKNOWN	Het;G>A	528;20|22	Hom;G>A	1292;0|44
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22890752	22890752	A	G	snp	synonymous SNV	T1267C	L423L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PRAME	 	ENSG00000275013	preferentially expressed antigen in melanoma	chr22:22890123-22901768	This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0030154;cell differentiation;IEA|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045596;negative regulation of cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0042974;retinoic acid receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRAME			https://www.ncbi.nlm.nih.gov/omim/?term=606021	http://www.informatics.jax.org/searchtool/Search.do?query=PRAME&submit=Quick%0D%21252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAME	rs17497512	0.0704872	0.1188	0.1223	1	0	0	exonic	exonic	exonic	PRAME	PRAME	ENSG00000185686	synonymous SNV	synonymous SNV	unknown	PRAME:NM_206955:exon6:c.T1267C:p.L423L,PRAME:NM_001291716:exon5:c.T1267C:p.L423L,PRAME:NM_001291719:exon4:c.T1219C:p.L407L,PRAME:NM_001291717:exon5:c.T1219C:p.L407L,PRAME:NM_001291715:exon5:c.T1267C:p.L423L,PRAME:NM_206956:exon6:c.T1267C:p.L423L,PRAME:NM_206954:exon6:c.T1267C:p.L423L,PRAME:NM_006115:exon6:c.T1267C:p.L423L,PRAME:NM_206953:exon5:c.T1267C:p.L423L,	PRAME:uc002zwk.3:exon5:c.T1267C:p.L423L,PRAME:uc002zwg.3:exon6:c.T1267C:p.L423L,PRAME:uc002zwi.3:exon6:c.T1267C:p.L423L,PRAME:uc002zwf.3:exon5:c.T1267C:p.L423L,PRAME:uc010gtr.3:exon5:c.T1267C:p.L423L,PRAME:uc002zwh.3:exon6:c.T1267C:p.L423L,PRAME:uc002zwj.3:exon6:c.T1267C:p.L423L,PRAME:uc011air.2:exon4:c.T1219C:p.L407L,	UNKNOWN	Het;A>G	1131;58|48	Hom;A>G	3759;0|127
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22890792	22890792	T	C	snp	synonymous SNV	A1227G	T409T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRAME	 	ENSG00000275013	preferentially expressed antigen in melanoma	chr22:22890123-22901768	This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0030154;cell differentiation;IEA|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045596;negative regulation of cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0042974;retinoic acid receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRAME			https://www.ncbi.nlm.nih.gov/omim/?term=606021	http://www.informatics.jax.org/searchtool/Search.do?query=PRAME&submit=Quick%0D%21252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAME	rs17497547	0.0704872	0.1188	0.1223	1	0	0	exonic	exonic	exonic	PRAME	PRAME	ENSG00000185686	synonymous SNV	synonymous SNV	unknown	PRAME:NM_206955:exon6:c.A1227G:p.T409T,PRAME:NM_001291716:exon5:c.A1227G:p.T409T,PRAME:NM_001291719:exon4:c.A1179G:p.T393T,PRAME:NM_001291717:exon5:c.A1179G:p.T393T,PRAME:NM_001291715:exon5:c.A1227G:p.T409T,PRAME:NM_206956:exon6:c.A1227G:p.T409T,PRAME:NM_206954:exon6:c.A1227G:p.T409T,PRAME:NM_006115:exon6:c.A1227G:p.T409T,PRAME:NM_206953:exon5:c.A1227G:p.T409T,	PRAME:uc002zwk.3:exon5:c.A1227G:p.T409T,PRAME:uc002zwg.3:exon6:c.A1227G:p.T409T,PRAME:uc002zwi.3:exon6:c.A1227G:p.T409T,PRAME:uc002zwf.3:exon5:c.A1227G:p.T409T,PRAME:uc010gtr.3:exon5:c.A1227G:p.T409T,PRAME:uc002zwh.3:exon6:c.A1227G:p.T409T,PRAME:uc002zwj.3:exon6:c.A1227G:p.T409T,PRAME:uc011air.2:exon4:c.A1179G:p.T393T,	UNKNOWN	Het;T>C	1474;60|64	Hom;T>C	4203;0|146
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22908420	22908420	C	T	snp	ncRNA_exonic	 	 	 	 	LL22NC03-63E9.3																		rs12158749	0.0652955	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	UTR3	LL22NC03-63E9.3	DKFZp667J0810,abParts	ENSG00000220891(ENST00000407120:c.*2199C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	2326;130|108	Hom;C>T	4168;3|163
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22922128	22922128	G	C	snp	upstream	 	 	 	 	IGLV2-34																		rs1807539	0.471046	0	0	1	0	0	intergenic	ncRNA_intronic	upstream	LL22NC03-63E9.3(dist=13124),POM121L1P(dist=51900)	DKFZp667J0810,abParts	ENSG00000253120	Na	Na	Na	Na	Na	Na	Het;G>C	129;1|6	Hom;G>C	132;0|5
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22974357	22974357	G	A	snp	ncRNA_exonic	 	 	 	 	POM121L1P																		rs537044105	0.0133786	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	POM121L1P	POM121L1P	ENSG00000215456	Na	Na	Na	Na	Na	Na	Het;G>A	1857;80|80	Hom;G>A	3631;0|125
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22980181	22980181	C	A	snp	ncRNA_intronic	 	 	 	 	DKFZp667J0810																		rs55792368	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	POM121L1P	DKFZp667J0810,POM121L1P,abParts	ENSG00000215456(dist=1557),ENSG00000183169(dist=1467)	Na	Na	Na	Na	Na	Na	Het;C>A	1241;33|33	Hom;C>A	3548;1|81
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22980183	22980185	GCT	G	indel	ncRNA_intronic	 	 	 	 	DKFZp667J0810																		rs372492596	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	POM121L1P	DKFZp667J0810,POM121L1P,abParts	ENSG00000215456(dist=1559),ENSG00000183169(dist=1463)	Na	Na	Na	Na	Na	Na	Het;-CT	1229;34|33	Hom;-CT	2196;3|80
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22985443	22985443	G	C	snp	ncRNA_exonic	 	 	 	 	POM121L1P																		rs71316770	0.145367	0	0.1895	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	POM121L1P	POM121L1P	ENSG00000183169	Na	Na	Na	Na	Na	Na	Het;G>C	2263;86|98	Hom;G>C	4136;0|145
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22986606	22986606	A	G	snp	ncRNA_exonic	 	 	 	 	POM121L1P																		rs200849081	0.453874	0	0.4260	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	POM121L1P	POM121L1P	ENSG00000183169	Na	Na	Na	Na	Na	Na	Het;A>G	1188;45|57	Hom;A>G	2578;1|99
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22988749	22988749	T	C	snp	upstream	 	 	 	 	GGTLC2	Ggt1	ENSG00000100121	gamma-glutamyltransferase light chain 2	chr22:22988780-22990368	This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]		 		GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;NAS|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS	GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0036374;glutathione hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGTLC2	https://www.uniprot.org/uniprot/Q14390		https://www.ncbi.nlm.nih.gov/omim/?term=612339	http://www.informatics.jax.org/searchtool/Search.do?query=GGTLC2&submit=Quick%0D%2411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGTLC2	rs539929693	0.223442	0	0	1	0	0	intronic	ncRNA_intronic	upstream	GGTLC2	DKFZp667J0810,abParts	ENSG00000100121	Na	Na	Na	Na	Na	Na	Het;T>C	274;16|11	Hom;T>C	471;0|16
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22989270	22989270	G	A	snp	nonsynonymous SNV	G223A	D75N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	GGTLC2	Ggt1	ENSG00000100121	gamma-glutamyltransferase light chain 2	chr22:22988780-22990368	This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]		 		GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;NAS|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS	GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0036374;glutathione hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGTLC2	https://www.uniprot.org/uniprot/Q14390		https://www.ncbi.nlm.nih.gov/omim/?term=612339	http://www.informatics.jax.org/searchtool/Search.do?query=GGTLC2&submit=Quick%0D%2411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGTLC2	rs2330126	0.16893	0	0.1739	0.08	1	12	exonic	exonic	exonic	GGTLC2	GGTLC2	ENSG00000100121	nonsynonymous SNV	nonsynonymous SNV	unknown	GGTLC2:NM_001282879:exon3:c.G223A:p.D75N,GGTLC2:NM_199127:exon2:c.G223A:p.D75N,	GGTLC2:uc010gts.2:exon2:c.G223A:p.D75N,GGTLC2:uc010gtt.2:exon2:c.G223A:p.D75N,	UNKNOWN	Het;G>A	1363;75|41	Hom;G>A	4406;0|96
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	22989281	22989281	T	C	snp	synonymous SNV	T234C	D78D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	GGTLC2	Ggt1	ENSG00000100121	gamma-glutamyltransferase light chain 2	chr22:22988780-22990368	This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]		 		GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;NAS|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS	GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0036374;glutathione hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGTLC2	https://www.uniprot.org/uniprot/Q14390		https://www.ncbi.nlm.nih.gov/omim/?term=612339	http://www.informatics.jax.org/searchtool/Search.do?query=GGTLC2&submit=Quick%0D%2411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGTLC2	rs3966363	0.174321	0.1272	0.1864	1	0	0	exonic	exonic	exonic	GGTLC2	GGTLC2	ENSG00000100121	synonymous SNV	synonymous SNV	unknown	GGTLC2:NM_001282879:exon3:c.T234C:p.D78D,GGTLC2:NM_199127:exon2:c.T234C:p.D78D,	GGTLC2:uc010gts.2:exon2:c.T234C:p.D78D,GGTLC2:uc010gtt.2:exon2:c.T234C:p.D78D,	UNKNOWN	Het;T>C	1435;75|41	Hom;T>C	4634;0|109
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23073958	23073958	G	A	snp	ncRNA_intronic	 	 	 	 	DKFZp667J0810																		rs5759417	0.329673	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	GGTLC2(dist=83590),MIR650(dist=91312)	DKFZp667J0810,abParts	ENSG00000211663(dist=10328),ENSG00000264629(dist=3105)	Na	Na	Na	Na	Na	Na	Het;G>A	127;8|5	Hom;G>A	480;0|14
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23128943	23128943	G	C	snp	ncRNA_intronic	 	 	 	 	DKFZp667J0810																		rs4822314	0.449681	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	GGTLC2(dist=138575),MIR650(dist=36327)	DKFZp667J0810,abParts	ENSG00000231392(dist=11759),ENSG00000207833(dist=6034)	Na	Na	Na	Na	Na	Na	Het;G>C	462;6|22	Hom;G>C	712;0|27
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23128957	23128957	G	T	snp	ncRNA_intronic	 	 	 	 	DKFZp667J0810																		rs4822315	0.449481	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	GGTLC2(dist=138589),MIR650(dist=36313)	DKFZp667J0810,abParts	ENSG00000231392(dist=11773),ENSG00000207833(dist=6020)	Na	Na	Na	Na	Na	Na	Het;G>T	533;5|25	Hom;G>T	742;1|30
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23128973	23128973	G	T	snp	ncRNA_intronic	 	 	 	 	DKFZp667J0810																		rs4822316	0.449481	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	GGTLC2(dist=138605),MIR650(dist=36297)	DKFZp667J0810,abParts	ENSG00000231392(dist=11789),ENSG00000207833(dist=6004)	Na	Na	Na	Na	Na	Na	Het;G>T	493;5|23	Hom;G>T	767;0|30
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23129036	23129036	G	A	snp	ncRNA_intronic	 	 	 	 	DKFZp667J0810																		rs12484751	0.449481	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	GGTLC2(dist=138668),MIR650(dist=36234)	DKFZp667J0810,abParts	ENSG00000231392(dist=11852),ENSG00000207833(dist=5941)	Na	Na	Na	Na	Na	Na	Het;G>A	295;4|13	Hom;G>A	580;0|22
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23660916	23660916	A	G	snp	downstream	 	 	 	 	BCR	Bcr	ENSG00000186716	BCR, RhoGEF and GTPase activating protein	chr22:23521891-23660224	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	skin cancer, non-melanoma; depressive disorder, major; bipolar disorder; height; breast cancer colorectal cancer stomach cancer; Chromosome Breakage|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; lung cancer; endometriosis; ovarian cancer; lung cancer ; coronary spastic angina; Tobacco Use Disorder; melanoma; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; bladder cancer; colorectal cancer; thyroid cancer; melanoma; nevi; chronic obstructive pulmonary disease; leukemia; Alzheimer's disease 	Homozygous null mutants are defective in hormonal and behavioral stress response regulation and prone to septic shock, whereas chimeric mice carrying a BCR-ABL fusion mutation mimicking human Philadelphia chromosome develop chronic myeloid leukemia.	Signaling by FGFR1 in disease	GO:0002692;negative regulation of cellular extravasation;IEA|GO:0003014;renal system process;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0007420;brain development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0043114;regulation of vascular permeability;IEA|GO:0043314;negative regulation of neutrophil degranulation;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0046777;protein autophosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051171;regulation of nitrogen compound metabolic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0060216;definitive hemopoiesis;IEA|GO:0060268;negative regulation of respiratory burst;IEA|GO:0060313;negative regulation of blood vessel remodeling;IEA|GO:0065002;intracellular protein transmembrane transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCR		https://hpo.jax.org/app/browse/search?q=BCR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=151410	http://www.informatics.jax.org/searchtool/Search.do?query=BCR&submit=Quick%0D%15697ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCR	rs370864433	0.164936	0	0	1	0	0	downstream	downstream	downstream	BCR	BCR	ENSG00000186716	Na	Na	Na	Na	Na	Na	Het;A>G	1160;12|35	Hom;A>G	1519;0|39
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23733392	23733392	A	G	snp	ncRNA_exonic	 	 	 	 	ZDHHC8P1																		rs6003683	0.73742	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ZDHHC8P1	ZDHHC8P1(uc002zxb.5:c.*564T>C,uc002zwz.5:c.*564T>C)	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;A>G	1697;75|75	Hom;A>G	4321;0|152
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23733546	23733547	CT	C	indel	ncRNA_exonic	 	 	 	 	ZDHHC8P1																		rs11326923	0.348842	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ZDHHC8P1	ZDHHC8P1(uc002zxb.5:c.*410_*409delinsG,uc002zwz.5:c.*410_*409delinsG)	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;-T	258;14|23	Hom;-T	373;4|23
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23733799	23733799	T	C	snp	ncRNA_exonic	 	 	 	 	ZDHHC8P1																		rs6003684	0.919728	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ZDHHC8P1	ZDHHC8P1(uc002zxb.5:c.*157A>G,uc002zwz.5:c.*157A>G)	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;T>C	1085;77|51	Hom;T>C	3921;0|137
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23734769	23734769	C	T	snp	ncRNA_intronic	 	 	 	 	ZDHHC8P1																		rs5751644	0.372005	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;C>T	97;1|4	Hom;C>T	244;0|8
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23734930	23734930	G	A	snp	ncRNA_exonic	 	 	 	 	ZDHHC8P1																		rs1807113	0.377196	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;G>A	826;19|36	Hom;G>A	1516;0|55
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23735751	23735751	T	C	snp	ncRNA_intronic	 	 	 	 	ZDHHC8P1																		rs8139944	0.884585	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519,ENSG00000248409	Na	Na	Na	Na	Na	Na	Het;T>C	153;2|5	Hom;T>C	595;0|13
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23735765	23735765	C	T	snp	ncRNA_intronic	 	 	 	 	ZDHHC8P1																		rs8135962	0.51278	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519,ENSG00000248409	Na	Na	Na	Na	Na	Na	Het;C>T	153;3|5	Hom;C>T	619;0|15
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23736180	23736180	C	T	snp	ncRNA_exonic	 	 	 	 	ZDHHC8P1																		rs5759766	0.357228	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;C>T	1209;66|62	Hom;C>T	2220;0|87
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23736338	23736338	G	A	snp	ncRNA_intronic	 	 	 	 	ZDHHC8P1																		rs5751645	0.357228	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;G>A	277;12|15	Hom;G>A	882;0|38
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23742105	23742105	G	A	snp	synonymous SNV	C351T	S117S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZDHHC8P1																		rs2003752	0.579273	0.6209	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519	Na	synonymous SNV	Na	Na	ZDHHC8P1:uc002zxb.5:exon4:c.C351T:p.S117S,ZDHHC8P1:uc002zwz.5:exon2:c.C351T:p.S117S,	Na	Het;G>A	3350;152|160	Hom;G>A	7479;0|279
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23744161	23744161	C	G	snp	ncRNA_intronic	 	 	 	 	ZDHHC8P1																		rs11090244	0.54992	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZDHHC8P1	ZDHHC8P1	ENSG00000133519	Na	Na	Na	Na	Na	Na	Het;C>G	2251;65|96	Hom;C>G	4576;0|163
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23813258	23813258	T	G	snp	ncRNA_exonic	 	 	 	 	LOC388882																		rs6519442	0.174321	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC388882	LOC388882	ENSG00000178248	Na	Na	Na	Na	Na	Na	Het;T>G	2735;149|122	Hom;T>G	7210;2|258
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23813308	23813308	G	C	snp	ncRNA_exonic	 	 	 	 	LOC388882																		rs6519443	0.174321	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC388882	LOC388882	ENSG00000178248	Na	Na	Na	Na	Na	Na	Het;G>C	2180;120|104	Hom;G>C	5182;4|184
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23915652	23915652	G	A	snp	nonsynonymous SNV	C443T	T148I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	IGLL1	Igll1	ENSG00000128322	immunoglobulin lambda like polypeptide 1	chr22:23915312-23922495	The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Cholesterol; height; Migraine without Aura	Mice homozygous for a knock-out allele exhibit spleen hypoplasia, a leaky blockade of B cell development at the pre-B stage, and decreased IgG levels in response to a T-cell dependent antigen.	Cell surface interactions at the vascular wall	GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006955;immune response;NAS|GO:0006958;complement activation, classical pathway;IBA|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0009897;external side of plasma membrane;IBA|GO:0016020;membrane;NAS|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IBA	GO:0003823;antigen binding;IBA|GO:0034987;immunoglobulin receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGLL1	https://www.uniprot.org/uniprot/P15814	https://hpo.jax.org/app/browse/search?q=IGLL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146770	http://www.informatics.jax.org/searchtool/Search.do?query=IGLL1&submit=Quick%0D%6128ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLL1	rs73157031	0.138778	0.0981	0.1500	0.08	1	13	exonic	exonic	exonic	IGLL1	IGLL1	ENSG00000128322	nonsynonymous SNV	nonsynonymous SNV	unknown	IGLL1:NM_020070:exon3:c.C443T:p.T148I,	IGLL1:uc002zxd.3:exon3:c.C443T:p.T148I,	UNKNOWN	Het;G>A	2436;124|116	Hom;G>A	5378;0|198
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23962744	23962744	T	TTTC	indel	intronic	 	 	 	 	DRICH1																		rs72559613	0.294329	0.3106	0.3766	1	0	0	intronic	intronic	intronic	DRICH1	C22orf43	ENSG00000189269	Na	Na	Na	Na	Na	Na	Het;+TTC	1060;54|30	Hom;+TTC	3786;0|83
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23980968	23980968	T	A	snp	ncRNA_exonic	 	 	 	 	GUSBP11																		rs13056126	0.228435	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUSBP11	GUSBP11	ENSG00000211683,ENSG00000228315,ENSG00000234353	Na	Na	Na	Na	Na	Na	Het;T>A	1779;68|84	Hom;T>A	4352;0|160
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23982724	23982724	T	C	snp	ncRNA_exonic	 	 	 	 	AP000346.2																		rs56397271	0.7498	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GUSBP11	GUSBP11	ENSG00000234353	Na	Na	Na	Na	Na	Na	Het;T>C	678;10|18	Hom;T>C	692;0|16
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	23982727	23982727	A	G	snp	ncRNA_exonic	 	 	 	 	AP000346.2																		rs28645846	0.7498	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GUSBP11	GUSBP11	ENSG00000234353	Na	Na	Na	Na	Na	Na	Het;A>G	654;8|16	Hom;A>G	692;0|16
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24094337	24094337	C	CG	indel	downstream	 	 	 	 	VPREB3	Vpreb3	ENSG00000128218	V-set pre-B cell surrogate light chain 3	chr22:24094930-24096655	The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]		 	Cell surface interactions at the vascular wall	GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;NAS		http://www.genecards.org/index.php?path=/Search/keyword/VPREB3	https://www.uniprot.org/uniprot/Q9UKI3		https://www.ncbi.nlm.nih.gov/omim/?term=605017	http://www.informatics.jax.org/searchtool/Search.do?query=VPREB3&submit=Quick%0D%6107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPREB3	rs59101705	0	0	0	1	0	0	downstream	downstream	downstream	VPREB3	VPREB3	ENSG00000128218	Na	Na	Na	Na	Na	Na	Het;+G	31;2|2	Hom;+G	133;0|5
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24094476	24094476	T	G	snp	downstream	 	 	 	 	VPREB3	Vpreb3	ENSG00000128218	V-set pre-B cell surrogate light chain 3	chr22:24094930-24096655	The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]		 	Cell surface interactions at the vascular wall	GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;NAS		http://www.genecards.org/index.php?path=/Search/keyword/VPREB3	https://www.uniprot.org/uniprot/Q9UKI3		https://www.ncbi.nlm.nih.gov/omim/?term=605017	http://www.informatics.jax.org/searchtool/Search.do?query=VPREB3&submit=Quick%0D%6107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPREB3	rs731545	0.562899	0	0	1	0	0	downstream	downstream	downstream	VPREB3	VPREB3	ENSG00000128218	Na	Na	Na	Na	Na	Na	Het;T>G	312;10|10	Hom;T>G	950;0|22
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24094485	24094485	G	A	snp	downstream	 	 	 	 	VPREB3	Vpreb3	ENSG00000128218	V-set pre-B cell surrogate light chain 3	chr22:24094930-24096655	The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]		 	Cell surface interactions at the vascular wall	GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;NAS		http://www.genecards.org/index.php?path=/Search/keyword/VPREB3	https://www.uniprot.org/uniprot/Q9UKI3		https://www.ncbi.nlm.nih.gov/omim/?term=605017	http://www.informatics.jax.org/searchtool/Search.do?query=VPREB3&submit=Quick%0D%6107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPREB3	rs12628882	0.153954	0	0	1	0	0	downstream	downstream	downstream	VPREB3	VPREB3	ENSG00000128218	Na	Na	Na	Na	Na	Na	Het;G>A	239;9|7	Hom;G>A	872;0|20
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24158899	24158899	C	A	snp	intronic	 	 	 	 	SMARCB1	Smarcb1	ENSG00000275837	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	chr22:24129150-24176703	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	rhabdoid tumors; Rhabdoid predisposition syndrome; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Rhabdoid Tumor; Pancreatic Neoplasms; bronchodilator response	Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0006281;DNA repair;IBA|GO:0006337;nucleosome disassembly;IDA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0007049;cell cycle;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;IBA|GO:0015074;DNA integration;TAS|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IBA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;IDA|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043923;positive regulation by host of viral transcription;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IDA|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP	GO:0000228;nuclear chromosome;IEA|GO:0000790;nuclear chromatin;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IDA|GO:0071564;npBAF complex;ISS|GO:0071565;nBAF complex;ISS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IDA|GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0030957;Tat protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMARCB1	https://www.uniprot.org/uniprot/Q12824	https://hpo.jax.org/app/browse/search?q=SMARCB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601607	http://www.informatics.jax.org/searchtool/Search.do?query=SMARCB1&submit=Quick%0D%21462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCB1	rs2070457	0.271366	0	0	1	0	0	intronic	intronic	intronic	SMARCB1	SMARCB1	ENSG00000099956	Na	Na	Na	Na	Na	Na	Het;C>A	87;10|6	Hom;C>A	531;0|18
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24650079	24650079	T	A	snp	ncRNA_intronic	 	 	 	 	POM121L9P																		rs9612577	0.360224	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	POM121L9P	POM121L9P	ENSG00000128262	Na	Na	Na	Na	Na	Na	Het;T>A	619;16|28	Hom;T>A	1074;0|40
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24825511	24825511	C	T	snp	ncRNA_exonic	 	 	 	 	ADORA2A-AS1																		rs2298383	0.400559	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ADORA2A-AS1	ADORA2A-AS1	ENSG00000178803	Na	Na	Na	Na	Na	Na	Het;C>T	1668;83|78	Hom;C>T	3358;2|122
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24826155	24826155	G	A	snp	ncRNA_exonic	 	 	 	 	ADORA2A-AS1																		rs3761420	0.327276	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ADORA2A-AS1	ADORA2A-AS1	ENSG00000178803	Na	Na	Na	Na	Na	Na	Het;G>A	738;72|40	Hom;G>A	2908;0|106
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24867882	24867882	G	C	snp	ncRNA_intronic	 	 	 	 	ADORA2A-AS1																		rs3966269	0.402556	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ADORA2A-AS1	ADORA2A-AS1	ENSG00000178803	Na	Na	Na	Na	Na	Na	Het;G>C	526;59|28	Hom;G>C	1962;0|69
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24871078	24871078	G	A	snp	ncRNA_exonic	 	 	 	 	ADORA2A-AS1																		rs4822495	0.329073	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ADORA2A-AS1	ADORA2A-AS1	ENSG00000178803	Na	Na	Na	Na	Na	Na	Het;G>A	1044;45|50	Hom;G>A	2424;4|94
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	24898310	24898310	C	T	snp	unknown	 	 	 	 	UPB1	Upb1	ENSG00000100024	beta-ureidopropionase 1	chr22:24863206-24924358	This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]	Colorectal Neoplasms; Heart Failure; Type 2 Diabetes| edema | rosiglitazone	 	Pyrimidine catabolism	GO:0006807;nitrogen compound metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019483;beta-alanine biosynthetic process;IEA|GO:0046135;pyrimidine nucleoside catabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003837;beta-ureidopropionase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UPB1	https://www.uniprot.org/uniprot/Q9UBR1	https://hpo.jax.org/app/browse/search?q=UPB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606673	http://www.informatics.jax.org/searchtool/Search.do?query=UPB1&submit=Quick%0D%2378ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UPB1	rs2232866	0.555911	0.5917	0.5407	0.33	3	9	intronic	intronic	exonic	UPB1	UPB1	ENSG00000100024	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	218;3|8	Hom;C>T	289;0|9
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	25097248	25097248	T	G	snp	intergenic	 	 	 	 	AP000357.1																		rs743377	0.429912	0	0	1	0	0	intergenic	intergenic	intergenic	POM121L10P(dist=42134),PIWIL3(dist=17753)	POM121L10P(dist=42134),PIWIL3(dist=17753)	ENSG00000224334(dist=13194),ENSG00000237601(dist=2067)	Na	Na	Na	Na	Na	Na	Het;T>G	236;8|11	Hom;T>G	431;0|16
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	25145471	25145471	A	G	snp	nonsynonymous SNV	T1234C	C412R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	PIWIL3	 	ENSG00000184571	piwi like RNA-mediated gene silencing 3	chr22:25115001-25170687	This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Azoospermia|Oligospermia	Homozygotes for a targeted null mutation exhibit male sterility due to a block in spermatogenesis beginning at the round spermatid stage.		GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIWIL3			https://www.ncbi.nlm.nih.gov/omim/?term=610314	http://www.informatics.jax.org/searchtool/Search.do?query=PIWIL3&submit=Quick%0D%15235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIWIL3	rs1892722	0.672923	0.6173	0.6206	0.08	1	13	exonic	exonic	exonic	PIWIL3	PIWIL3	ENSG00000184571	nonsynonymous SNV	nonsynonymous SNV	unknown	PIWIL3:NM_001008496:exon11:c.T1234C:p.C412R,PIWIL3:NM_001255975:exon11:c.T1234C:p.C412R,	PIWIL3:uc011ajx.2:exon12:c.T907C:p.C303R,PIWIL3:uc010gut.2:exon11:c.T1234C:p.C412R,PIWIL3:uc003abd.2:exon11:c.T1234C:p.C412R,PIWIL3:uc011ajy.2:exon12:c.T907C:p.C303R,	UNKNOWN	Het;A>G	582;60|32	Hom;A>G	2760;2|100
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	25161325	25161325	C	G	snp	ncRNA_exonic	 	 	 	 	TOP1P2																		rs5760624	0.695887	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	TOP1P2	TOP1P2	ENSG00000184571	Na	Na	Na	Na	Na	Na	Het;C>G	913;77|42	Hom;C>G	3183;0|101
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	25161356	25161356	C	T	snp	ncRNA_exonic	 	 	 	 	TOP1P2																		rs5760625	0.694688	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	TOP1P2	TOP1P2	ENSG00000184571	Na	Na	Na	Na	Na	Na	Het;C>T	1319;86|39	Hom;C>T	3257;0|119
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	25161380	25161380	A	G	snp	ncRNA_exonic	 	 	 	 	TOP1P2																		rs6004266	0.694688	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	TOP1P2	TOP1P2	ENSG00000184571	Na	Na	Na	Na	Na	Na	Het;A>G	1844;90|52	Hom;A>G	4990;0|148
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	25161574	25161574	T	C	snp	ncRNA_exonic	 	 	 	 	TOP1P2																		rs6004268	0.695288	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	TOP1P2	TOP1P2	ENSG00000184571	Na	Na	Na	Na	Na	Na	Het;T>C	3388;157|162	Hom;T>C	8399;0|322
22_4.194_23.194	Chr22:17733575-25291782	0.374	22	25282765	25282765	T	C	snp	intronic	 	 	 	 	SGSM1	Sgsm1	ENSG00000167037	small G protein signaling modulator 1	chr22:25202236-25323545		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0005096;GTPase activator activity;IDA|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGSM1			https://www.ncbi.nlm.nih.gov/omim/?term=611417	http://www.informatics.jax.org/searchtool/Search.do?query=SGSM1&submit=Quick%0D%11935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGSM1	rs139719	0.6873	0	0	1	0	0	intronic	intronic	intronic	SGSM1	SGSM1	ENSG00000167037	Na	Na	Na	Na	Na	Na	Het;T>C	486;28|23	Hom;T>C	841;0|31
N	N	-	22	25297965	25297965	T	C	snp	intronic	 	 	 	 	SGSM1	Sgsm1	ENSG00000167037	small G protein signaling modulator 1	chr22:25202236-25323545		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0005096;GTPase activator activity;IDA|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGSM1			https://www.ncbi.nlm.nih.gov/omim/?term=611417	http://www.informatics.jax.org/searchtool/Search.do?query=SGSM1&submit=Quick%0D%11935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGSM1	rs139739	0.628994	0.5429	0.6438	1	0	0	intronic	intronic	intronic	SGSM1	SGSM1	ENSG00000167037	Na	Na	Na	Na	Na	Na	Het;T>C	47;7|5	Hom;T>C	197;0|10
N	N	-	22	25471521	25471521	T	C	snp	intronic	 	 	 	 	KIAA1671	2900026A02Rik	ENSG00000197077	KIAA1671	chr22:25348697-25593415			 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA1671				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1671&submit=Quick%0D%16538ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1671	rs6004426	0.44988	0	0	1	0	0	intronic	intronic	intronic	KIAA1671	KIAA1671	ENSG00000197077	Na	Na	Na	Na	Na	Na	Het;T>C	165;8|8	Hom;T>C	617;0|23
N	N	-	22	25577930	25577930	A	G	snp	intronic	 	 	 	 	KIAA1671	2900026A02Rik	ENSG00000197077	KIAA1671	chr22:25348697-25593415			 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA1671				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1671&submit=Quick%0D%16538ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1671	rs5996848	0.867013	0	0	1	0	0	intronic	intronic	intronic	KIAA1671	KIAA1671	ENSG00000197077	Na	Na	Na	Na	Na	Na	Het;A>G	79;1|3	Hom;A>G	134;0|4
N	N	-	22	25586744	25586744	T	G	snp	synonymous SNV	T939G	V313V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KIAA1671	2900026A02Rik	ENSG00000197077	KIAA1671	chr22:25348697-25593415			 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA1671				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1671&submit=Quick%0D%16538ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1671	rs2330986	0.0383387	0.0721	0.0674	1	0	0	exonic	exonic	exonic	KIAA1671	KIAA1671	ENSG00000197077	synonymous SNV	synonymous SNV	unknown	KIAA1671:NM_001145206:exon10:c.T5418G:p.V1806V,	KIAA1671:uc003abl.3:exon7:c.T939G:p.V313V,KIAA1671:uc003abn.3:exon10:c.T5418G:p.V1806V,	UNKNOWN	Het;T>G	660;35|30	Hom;T>G	1266;0|49
N	N	-	22	25714218	25714218	A	T	snp	upstream	 	 	 	 	IGLL3P																		rs2072869	0.397364	0.4446	0.4971	1	0	0	upstream	upstream	upstream	IGLL3P	IGLL3P	ENSG00000206066	Na	Na	Na	Na	Na	Na	Het;A>T	2882;76|129	Hom;A>T	4229;0|148
N	N	-	22	25745894	25745894	C	CTTCT	indel	ncRNA_exonic	 	 	 	 	AL022324.2																		rs133184	0.830671	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IGLL3P(dist=29701),LRP5L(dist=1491)	IGLL3P(dist=29701),LRP5L(dist=1491)	ENSG00000231466	Na	Na	Na	Na	Na	Na	Het;+TTCT	498;7|12	Hom;+TTCT	1898;0|43
N	N	-	22	25750814	25750814	C	CAGGGCA	indel	intronic	 	 	 	 	LRP5L	 	ENSG00000100068	LDL receptor related protein 5 like	chr22:25747385-25801344			 					http://www.genecards.org/index.php?path=/Search/keyword/LRP5L	https://www.uniprot.org/uniprot/A4QPB2			http://www.informatics.jax.org/searchtool/Search.do?query=LRP5L&submit=Quick%0D%2393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP5L	rs141812512	0	0.4345	0.4649	1	0	0	intronic	intronic	intronic	LRP5L	LRP5L	ENSG00000100068	Na	Na	Na	Na	Na	Na	Het;+AGGGCA	1472;36|40	Hom;+AGGGCA	3431;0|78
N	N	-	22	25750873	25750873	G	A	snp	intronic	 	 	 	 	LRP5L	 	ENSG00000100068	LDL receptor related protein 5 like	chr22:25747385-25801344			 					http://www.genecards.org/index.php?path=/Search/keyword/LRP5L	https://www.uniprot.org/uniprot/A4QPB2			http://www.informatics.jax.org/searchtool/Search.do?query=LRP5L&submit=Quick%0D%2393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP5L	rs133189	0.836661	0	0	1	0	0	intronic	intronic	intronic	LRP5L	LRP5L	ENSG00000100068	Na	Na	Na	Na	Na	Na	Het;G>A	255;12|13	Hom;G>A	722;0|27
N	N	-	22	25753231	25753231	G	A	snp	synonymous SNV	C429T	D143D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LRP5L	 	ENSG00000100068	LDL receptor related protein 5 like	chr22:25747385-25801344			 					http://www.genecards.org/index.php?path=/Search/keyword/LRP5L	https://www.uniprot.org/uniprot/A4QPB2			http://www.informatics.jax.org/searchtool/Search.do?query=LRP5L&submit=Quick%0D%2393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP5L	rs133194	0.419129	0.4565	0.4785	1	0	0	exonic	exonic	exonic	LRP5L	LRP5L	ENSG00000100068	synonymous SNV	synonymous SNV	unknown	LRP5L:NM_001135772:exon4:c.C429T:p.D143D,LRP5L:NM_182492:exon2:c.C429T:p.D143D,	LRP5L:uc010guw.1:exon4:c.C429T:p.D143D,LRP5L:uc011ajz.2:exon4:c.C429T:p.D143D,LRP5L:uc003abs.3:exon2:c.C429T:p.D143D,	UNKNOWN	Het;G>A	1681;74|77	Hom;G>A	4428;0|166
N	N	-	22	25844021	25844021	T	C	snp	upstream	 	 	 	 	CRYBB2P1																		rs576585	0.667732	0	0	1	0	0	upstream	upstream	upstream	CRYBB2P1	CRYBB2P1	ENSG00000100058	Na	Na	Na	Na	Na	Na	Het;T>C	337;16|15	Hom;T>C	403;0|12
N	N	-	22	25906860	25906860	G	C	snp	ncRNA_exonic	 	 	 	 	CRYBB2P1																		rs476416	0.671925	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CRYBB2P1(dist=49215),ADRBK2(dist=54001)	NONE(dist=NONE),ADRBK2(dist=54001)	ENSG00000100058	Na	Na	Na	Na	Na	Na	Het;G>C	80;1|3	Hom;G>C	162;0|5
N	N	-	22	25906898	25906898	A	G	snp	ncRNA_exonic	 	 	 	 	CRYBB2P1																		rs614580	0.708666	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CRYBB2P1(dist=49253),ADRBK2(dist=53963)	NONE(dist=NONE),ADRBK2(dist=53963)	ENSG00000100058	Na	Na	Na	Na	Na	Na	Het;A>G	121;4|5	Hom;A>G	320;0|10
N	N	-	22	26239850	26239850	C	A	snp	nonsynonymous SNV	C3357A	H1119Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MYO18B	Myo18b	ENSG00000133454	myosin XVIIIB	chr22:26138111-26427007	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]	Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders	Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO18B	https://www.uniprot.org/uniprot/Q8IUG5	https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607295	http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B	rs5761268	0.723442	0.6421	0.7340	0.15	2	13	exonic	exonic	exonic	MYO18B	MYO18B	ENSG00000133454	nonsynonymous SNV	nonsynonymous SNV	unknown	MYO18B:NM_032608:exon18:c.C3357A:p.H1119Q,	MYO18B:uc010guz.1:exon16:c.C3000A:p.H1000Q,MYO18B:uc003aca.1:exon16:c.C3000A:p.H1000Q,MYO18B:uc011aka.1:exon15:c.C819A:p.H273Q,MYO18B:uc010guy.1:exon16:c.C3003A:p.H1001Q,MYO18B:uc003abz.1:exon18:c.C3357A:p.H1119Q,MYO18B:uc011akb.1:exon14:c.C1896A:p.H632Q,	UNKNOWN	Het;C>A	542;47|28	Hom;C>A	1466;0|56
N	N	-	22	26239906	26239906	A	G	snp	intronic	 	 	 	 	MYO18B	Myo18b	ENSG00000133454	myosin XVIIIB	chr22:26138111-26427007	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]	Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders	Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO18B	https://www.uniprot.org/uniprot/Q8IUG5	https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607295	http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B	rs5761269	0.734026	0.6530	0.7313	1	0	0	intronic	intronic	intronic	MYO18B	MYO18B	ENSG00000133454	Na	Na	Na	Na	Na	Na	Het;A>G	256;23|11	Hom;A>G	876;0|31
N	N	-	22	26247456	26247456	G	A	snp	synonymous SNV	G3438A	G1146G	aliphatic,neutral	aliphatic,neutral	MYO18B	Myo18b	ENSG00000133454	myosin XVIIIB	chr22:26138111-26427007	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]	Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders	Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO18B	https://www.uniprot.org/uniprot/Q8IUG5	https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607295	http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B	rs5996988	0.242013	0.3179	0.3586	1	0	0	exonic	exonic	exonic	MYO18B	MYO18B	ENSG00000133454	synonymous SNV	synonymous SNV	unknown	MYO18B:NM_032608:exon21:c.G3795A:p.G1265G,	MYO18B:uc010guz.1:exon19:c.G3438A:p.G1146G,MYO18B:uc003aca.1:exon19:c.G3438A:p.G1146G,MYO18B:uc011aka.1:exon18:c.G1257A:p.G419G,MYO18B:uc010guy.1:exon19:c.G3441A:p.G1147G,MYO18B:uc003abz.1:exon21:c.G3795A:p.G1265G,MYO18B:uc011akb.1:exon17:c.G2334A:p.G778G,	UNKNOWN	Het;G>A	2141;95|103	Hom;G>A	4602;3|176
N	N	-	22	26247607	26247607	C	T	snp	intronic	 	 	 	 	MYO18B	Myo18b	ENSG00000133454	myosin XVIIIB	chr22:26138111-26427007	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]	Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders	Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO18B	https://www.uniprot.org/uniprot/Q8IUG5	https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607295	http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B	rs6004798	0.245807	0	0	1	0	0	intronic	intronic	intronic	MYO18B	MYO18B	ENSG00000133454	Na	Na	Na	Na	Na	Na	Het;C>T	877;33|41	Hom;C>T	2033;0|75
N	N	-	22	26273834	26273834	A	C	snp	intronic	 	 	 	 	MYO18B	Myo18b	ENSG00000133454	myosin XVIIIB	chr22:26138111-26427007	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]	Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders	Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO18B	https://www.uniprot.org/uniprot/Q8IUG5	https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607295	http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B	rs4822666	0.429113	0	0	1	0	0	intronic	intronic	intronic	MYO18B	MYO18B	ENSG00000133454	Na	Na	Na	Na	Na	Na	Het;A>C	167;4|5	Hom;A>C	197;0|5
N	N	-	22	26273836	26273836	G	T	snp	intronic	 	 	 	 	MYO18B	Myo18b	ENSG00000133454	myosin XVIIIB	chr22:26138111-26427007	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]	Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders	Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO18B	https://www.uniprot.org/uniprot/Q8IUG5	https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607295	http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B	rs4822667	0.428714	0	0	1	0	0	intronic	intronic	intronic	MYO18B	MYO18B	ENSG00000133454	Na	Na	Na	Na	Na	Na	Het;G>T	164;5|5	Hom;G>T	197;0|5
N	N	-	22	26273893	26273893	G	C	snp	intronic	 	 	 	 	MYO18B	Myo18b	ENSG00000133454	myosin XVIIIB	chr22:26138111-26427007	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]	Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders	Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO18B	https://www.uniprot.org/uniprot/Q8IUG5	https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607295	http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B	rs4822668	0.429912	0.4084	0.4521	1	0	0	intronic	intronic	intronic	MYO18B	MYO18B	ENSG00000133454	Na	Na	Na	Na	Na	Na	Het;G>C	258;11|11	Hom;G>C	503;0|17
N	N	-	22	26689201	26689201	A	T	snp	intronic	 	 	 	 	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs653361	0.159744	0	0	1	0	0	intronic	intronic	intronic	SEZ6L	SEZ6L	ENSG00000100095	Na	Na	Na	Na	Na	Na	Het;A>T	152;9|8	Hom;A>T	727;0|26
N	N	-	22	26690407	26690407	T	C	snp	intronic	 	 	 	 	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs137204	0.210264	0.3598	0.3074	1	0	0	intronic	intronic	intronic	SEZ6L	SEZ6L	ENSG00000100095	Na	Na	Na	Na	Na	Na	Het;T>C	724;49|32	Hom;T>C	2742;0|99
N	N	-	22	26690539	26690539	G	A	snp	intronic	 	 	 	 	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs137205	0.138778	0	0	1	0	0	intronic	intronic	intronic	SEZ6L	SEZ6L	ENSG00000100095	Na	Na	Na	Na	Na	Na	Het;G>A	263;2|8	Hom;G>A	260;0|8
N	N	-	22	26695077	26695077	G	T	snp	nonsynonymous SNV	G1290T	M430I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs663048	0.187899	0.2606	0.2093	0.08	1	13	exonic	exonic	exonic	SEZ6L	SEZ6L	ENSG00000100095	nonsynonymous SNV	nonsynonymous SNV	unknown	SEZ6L:NM_021115:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184773:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184775:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184776:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184777:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184774:exon5:c.G1290T:p.M430I,	SEZ6L:uc011akd.2:exon5:c.G1290T:p.M430I,SEZ6L:uc003ace.3:exon5:c.G1290T:p.M430I,SEZ6L:uc003acb.3:exon5:c.G1290T:p.M430I,SEZ6L:uc011akc.2:exon5:c.G1290T:p.M430I,SEZ6L:uc010gvc.1:exon4:c.G609T:p.M203I,SEZ6L:uc003acc.3:exon5:c.G1290T:p.M430I,SEZ6L:uc003acd.3:exon5:c.G1290T:p.M430I,SEZ6L:uc003acf.1:exon4:c.G609T:p.M203I,	UNKNOWN	Het;G>T	313;23|18	Hom;G>T	1594;0|58
N	N	-	22	26701854	26701856	TTC	T	indel	intronic	 	 	 	 	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs3070663	0.376797	0	0	1	0	0	intronic	intronic	intronic	SEZ6L	SEZ6L	ENSG00000100095	Na	Na	Na	Na	Na	Na	Het;-TC	146;3|6	Hom;-TC	185;0|6
N	N	-	22	26702015	26702015	A	C	snp	synonymous SNV	A1419C	T473T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs1210894	0.362819	0.4975	0.3748	1	0	0	exonic	exonic	exonic	SEZ6L	SEZ6L	ENSG00000100095	synonymous SNV	synonymous SNV	unknown	SEZ6L:NM_021115:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184773:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184775:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184776:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184777:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184774:exon6:c.A1419C:p.T473T,	SEZ6L:uc011akd.2:exon6:c.A1419C:p.T473T,SEZ6L:uc003ace.3:exon6:c.A1419C:p.T473T,SEZ6L:uc003acb.3:exon6:c.A1419C:p.T473T,SEZ6L:uc011akc.2:exon6:c.A1419C:p.T473T,SEZ6L:uc010gvc.1:exon5:c.A738C:p.T246T,SEZ6L:uc003acc.3:exon6:c.A1419C:p.T473T,SEZ6L:uc003acd.3:exon6:c.A1419C:p.T473T,SEZ6L:uc003acf.1:exon5:c.A738C:p.T246T,	UNKNOWN	Het;A>C	1203;31|51	Hom;A>C	2583;0|92
N	N	-	22	26706826	26706826	T	C	snp	intronic	 	 	 	 	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs666999	0.194289	0.2615	0.2092	1	0	0	intronic	intronic	intronic	SEZ6L	SEZ6L	ENSG00000100095	Na	Na	Na	Na	Na	Na	Het;T>C	1056;63|51	Hom;T>C	2983;1|101
N	N	-	22	26706885	26706885	T	C	snp	intronic	 	 	 	 	SEZ6L	Sez6l	ENSG00000100095	seizure related 6 homolog like	chr22:26565440-26779562		Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.		GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L	https://www.uniprot.org/uniprot/Q9BYH1		https://www.ncbi.nlm.nih.gov/omim/?term=607021	http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L	rs666627	0.154752	0	0	1	0	0	intronic	intronic	intronic	SEZ6L	SEZ6L	ENSG00000100095	Na	Na	Na	Na	Na	Na	Het;T>C	370;18|17	Hom;T>C	1073;0|33
N	N	-	22	26860269	26860269	G	C	snp	nonsynonymous SNV	C1312G	L438V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HPS4	Hps4	ENSG00000100099	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	chr22:26839389-26879803	This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]	Glucose; oculocutaneous albinism; colitis	Homozygotes for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis.	RAB GEFs exchange GTP for GDP on RABs	GO:0006605;protein targeting;IDA|GO:0006996;organelle organization;IEA|GO:0007040;lysosome organization;IDA|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;TAS|GO:0030318;melanocyte differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048075;positive regulation of eye pigmentation;TAS|GO:0050821;protein stabilization;IPI|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IEA|GO:0042470;melanosome;IDA|GO:0042827;platelet dense granule;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS4	https://www.uniprot.org/uniprot/Q9NQG7	https://hpo.jax.org/app/browse/search?q=HPS4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606682	http://www.informatics.jax.org/searchtool/Search.do?query=HPS4&submit=Quick%0D%2403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS4	rs2014410	0.354233	0.3781	0.3829	0.23	3	13	exonic	exonic	exonic	HPS4	HPS4	ENSG00000100099	nonsynonymous SNV	nonsynonymous SNV	unknown	HPS4:NM_152841:exon9:c.C1312G:p.L438V,HPS4:NM_022081:exon11:c.C1327G:p.L443V,	HPS4:uc003acl.4:exon11:c.C1327G:p.L443V,HPS4:uc003acj.4:exon10:c.C919G:p.L307V,HPS4:uc003aci.4:exon9:c.C1312G:p.L438V,HPS4:uc003acn.4:exon11:c.C865G:p.L289V,HPS4:uc003ack.4:exon10:c.C700G:p.L234V,HPS4:uc010gvd.2:exon12:c.C1381G:p.L461V,HPS4:uc003ach.4:exon6:c.C532G:p.L178V,	UNKNOWN	Het;G>C	1783;64|74	Hom;G>C	3761;4|139
N	N	-	22	27456410	27456410	A	G	snp	ncRNA_exonic	 	 	 	 	AL008638.2																		rs61744687	0.320887	0	0	1	0	0	intergenic	UTR5	ncRNA_exonic	LINC01422(dist=139837),MN1(dist=687855)	AK055980(uc003adg.3:c.-92T>C)	ENSG00000236858	Na	Na	Na	Na	Na	Na	Het;A>G	86;4|3	Hom;A>G	148;0|4
N	N	-	22	29904519	29904519	T	C	snp	intronic	 	 	 	 	THOC5	Thoc5	ENSG00000100296	THO complex 5	chr22:29901868-29951205		Carotid atherosclerosis in HIV infection	Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E5.5.	mRNA 3'-end processing	GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0030224;monocyte differentiation;IDA|GO:0031124;mRNA 3'-end processing;TAS|GO:0032786;positive regulation of DNA-templated transcription, elongation;IMP|GO:0046784;viral mRNA export from host cell nucleus;IDA|GO:0051028;mRNA transport;IEA|GO:0060215;primitive hemopoiesis;ISS|GO:2000002;negative regulation of DNA damage checkpoint;IMP	GO:0000346;transcription export complex;IDA|GO:0000347;THO complex;IDA|GO:0000445;THO complex part of transcription export complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/THOC5	https://www.uniprot.org/uniprot/Q13769		https://www.ncbi.nlm.nih.gov/omim/?term=612733	http://www.informatics.jax.org/searchtool/Search.do?query=THOC5&submit=Quick%0D%2463ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOC5	rs2283859	0.201877	0.2244	0.2267	1	0	0	intronic	intronic	intronic	THOC5	THOC5	ENSG00000100296	Na	Na	Na	Na	Na	Na	Het;T>C	846;35|38	Hom;T>C	1514;0|55
N	N	-	22	30860830	30860830	C	T	snp	nonsynonymous SNV	G410A	R137H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	SEC14L3	Sec14l3	ENSG00000100012	SEC14 like lipid binding 3	chr22:30843946-30868036	The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	Blood Pressure	 		GO:0006810;transport;IEA	GO:0005622;intracellular;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC14L3	https://www.uniprot.org/uniprot/Q9UDX4		https://www.ncbi.nlm.nih.gov/omim/?term=612824	http://www.informatics.jax.org/searchtool/Search.do?query=SEC14L3&submit=Quick%0D%2375ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC14L3	rs2269961	0.220048	0.2187	0.2157	0.77	10	13	exonic	exonic	exonic	SEC14L3	SEC14L3	ENSG00000100012	nonsynonymous SNV	nonsynonymous SNV	unknown	SEC14L3:NM_001257378:exon10:c.G410A:p.R137H,SEC14L3:NM_001257379:exon9:c.G464A:p.R155H,SEC14L3:NM_174975:exon8:c.G641A:p.R214H,SEC14L3:NM_001257382:exon9:c.G464A:p.R155H,	SEC14L3:uc003aib.3:exon9:c.G464A:p.R155H,SEC14L3:uc003ahz.3:exon10:c.G410A:p.R137H,SEC14L3:uc003aia.3:exon9:c.G464A:p.R155H,SEC14L3:uc003ahy.3:exon8:c.G641A:p.R214H,	UNKNOWN	Het;C>T	1345;49|64	Hom;C>T	2310;0|91
N	N	-	22	30866380	30866380	T	C	snp	intronic	 	 	 	 	SEC14L3	Sec14l3	ENSG00000100012	SEC14 like lipid binding 3	chr22:30843946-30868036	The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	Blood Pressure	 		GO:0006810;transport;IEA	GO:0005622;intracellular;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC14L3	https://www.uniprot.org/uniprot/Q9UDX4		https://www.ncbi.nlm.nih.gov/omim/?term=612824	http://www.informatics.jax.org/searchtool/Search.do?query=SEC14L3&submit=Quick%0D%2375ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC14L3	rs2269964	0.228235	0	0	1	0	0	intronic	intronic	intronic	SEC14L3	SEC14L3	ENSG00000100012	Na	Na	Na	Na	Na	Na	Het;T>C	102;13|5	Hom;T>C	173;0|6
N	N	-	22	30975861	30975861	C	T	snp	nonsynonymous SNV	G814A	A272T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PES1	Pes1	ENSG00000100029	pescadillo ribosomal biogenesis factor 1	chr22:30972612-31003070	This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]		Targeted disuption of the mouse gene results in embryonic arrest at morula stages of development, as well as failure of nucleologenesis and disruption of ribosome biogenesis.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000463;maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000466;maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0006364;rRNA processing;TAS|GO:0007000;nucleolus organization;IEA|GO:0008283;cell proliferation;IMP|GO:0033365;protein localization to organelle;IEA|GO:0042254;ribosome biogenesis;IEA|GO:0042273;ribosomal large subunit biogenesis;IEA|GO:0051726;regulation of cell cycle;IMP	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0030687;preribosome, large subunit precursor;IEA|GO:0070545;PeBoW complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PES1	https://www.uniprot.org/uniprot/O00541		https://www.ncbi.nlm.nih.gov/omim/?term=605819	http://www.informatics.jax.org/searchtool/Search.do?query=PES1&submit=Quick%0D%2381ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PES1	rs34123894	0.0944489	0.0375	0.0554	0.31	4	13	exonic	exonic	exonic	PES1	PES1	ENSG00000100029	nonsynonymous SNV	nonsynonymous SNV	unknown	PES1:NM_001282328:exon14:c.G814A:p.A272T,PES1:NM_001243225:exon12:c.G1216A:p.A406T,PES1:NM_014303:exon12:c.G1231A:p.A411T,PES1:NM_001282327:exon14:c.G814A:p.A272T,	PES1:uc003aio.1:exon14:c.G814A:p.A272T,PES1:uc003ain.1:exon14:c.G814A:p.A272T,PES1:uc003aik.2:exon12:c.G1216A:p.A406T,PES1:uc003aij.2:exon12:c.G1231A:p.A411T,	UNKNOWN	Het;C>T	862;49|43	Hom;C>T	2715;2|103
N	N	-	22	31010997	31010997	C	T	snp	intronic	 	 	 	 	TCN2	Tcn2	ENSG00000185339	transcobalamin 2	chr22:31002825-31023265	This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Intracranial Aneurysm; Down Syndrome; Cleft Lip|Cleft Palate; Heart Defects, Congenital|Hyperhomocysteinemia; colorectal cancer; oxidative stress; Adenocarcinoma|Stomach Neoplasms; homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid; null; pregnancy loss, second trimester; orofacial clefts; brain cancer; Hyperhomocysteinemia; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; prostate cancer; Chronic renal failure|Kidney Failure, Chronic; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease, ischemic; Congenital Abnormalities|; Cleft Lip|Cleft Palate|; Alcoholism; Colitis, Ulcerative; neural tube defects; vascular disease; Brain Neoplasms|Meningioma; atherosclerosis; Alzheimer's Disease; Spinal Dysraphism; omphalocele; Premature Birth; neural tube defects ; cardiac defects; Central Nervous System Neoplasms|Lymphoma; Anemia, Iron-Deficiency|Avitaminosis; female infertility; malaria, plasmodium falciparum; Congenital Heart Defects|Heart Defects, Congenital; Congenital Heart Defects|Heart Defects, Congenital|Obesity; 1-carbon metabolism; spontaneous abortion; Infection|Inflammation|Premature Birth; folate homocysteine vitamin B12; Aortic Aneurysm, Abdominal|; Cerebrovascular Disorders; cleft lip with cleft palate cleft lip without cleft palate; kidney transplant complications; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Inflammation|Premature Birth	This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686).	Defective CD320 causes methylmalonic aciduria	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCN2		https://hpo.jax.org/app/browse/search?q=TCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613441	http://www.informatics.jax.org/searchtool/Search.do?query=TCN2&submit=Quick%0D%15398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCN2	rs2267162	0.160343	0	0	1	0	0	intronic	intronic	intronic	TCN2	TCN2	ENSG00000185339	Na	Na	Na	Na	Na	Na	Het;C>T	138;5|6	Hom;C>T	254;0|9
N	N	-	22	31011280	31011280	A	C	snp	intronic	 	 	 	 	TCN2	Tcn2	ENSG00000185339	transcobalamin 2	chr22:31002825-31023265	This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Intracranial Aneurysm; Down Syndrome; Cleft Lip|Cleft Palate; Heart Defects, Congenital|Hyperhomocysteinemia; colorectal cancer; oxidative stress; Adenocarcinoma|Stomach Neoplasms; homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid; null; pregnancy loss, second trimester; orofacial clefts; brain cancer; Hyperhomocysteinemia; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; prostate cancer; Chronic renal failure|Kidney Failure, Chronic; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease, ischemic; Congenital Abnormalities|; Cleft Lip|Cleft Palate|; Alcoholism; Colitis, Ulcerative; neural tube defects; vascular disease; Brain Neoplasms|Meningioma; atherosclerosis; Alzheimer's Disease; Spinal Dysraphism; omphalocele; Premature Birth; neural tube defects ; cardiac defects; Central Nervous System Neoplasms|Lymphoma; Anemia, Iron-Deficiency|Avitaminosis; female infertility; malaria, plasmodium falciparum; Congenital Heart Defects|Heart Defects, Congenital; Congenital Heart Defects|Heart Defects, Congenital|Obesity; 1-carbon metabolism; spontaneous abortion; Infection|Inflammation|Premature Birth; folate homocysteine vitamin B12; Aortic Aneurysm, Abdominal|; Cerebrovascular Disorders; cleft lip with cleft palate cleft lip without cleft palate; kidney transplant complications; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Inflammation|Premature Birth	This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686).	Defective CD320 causes methylmalonic aciduria	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCN2		https://hpo.jax.org/app/browse/search?q=TCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613441	http://www.informatics.jax.org/searchtool/Search.do?query=TCN2&submit=Quick%0D%15398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCN2	rs7290898	0.157149	0.1118	0.0776	1	0	0	intronic	intronic	intronic	TCN2	TCN2	ENSG00000185339	Na	Na	Na	Na	Na	Na	Het;A>C	252;22|11	Hom;A>C	1725;0|57
N	N	-	22	31011557	31011557	T	C	snp	intronic	 	 	 	 	TCN2	Tcn2	ENSG00000185339	transcobalamin 2	chr22:31002825-31023265	This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Intracranial Aneurysm; Down Syndrome; Cleft Lip|Cleft Palate; Heart Defects, Congenital|Hyperhomocysteinemia; colorectal cancer; oxidative stress; Adenocarcinoma|Stomach Neoplasms; homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid; null; pregnancy loss, second trimester; orofacial clefts; brain cancer; Hyperhomocysteinemia; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; prostate cancer; Chronic renal failure|Kidney Failure, Chronic; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease, ischemic; Congenital Abnormalities|; Cleft Lip|Cleft Palate|; Alcoholism; Colitis, Ulcerative; neural tube defects; vascular disease; Brain Neoplasms|Meningioma; atherosclerosis; Alzheimer's Disease; Spinal Dysraphism; omphalocele; Premature Birth; neural tube defects ; cardiac defects; Central Nervous System Neoplasms|Lymphoma; Anemia, Iron-Deficiency|Avitaminosis; female infertility; malaria, plasmodium falciparum; Congenital Heart Defects|Heart Defects, Congenital; Congenital Heart Defects|Heart Defects, Congenital|Obesity; 1-carbon metabolism; spontaneous abortion; Infection|Inflammation|Premature Birth; folate homocysteine vitamin B12; Aortic Aneurysm, Abdominal|; Cerebrovascular Disorders; cleft lip with cleft palate cleft lip without cleft palate; kidney transplant complications; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Inflammation|Premature Birth	This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686).	Defective CD320 causes methylmalonic aciduria	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCN2		https://hpo.jax.org/app/browse/search?q=TCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613441	http://www.informatics.jax.org/searchtool/Search.do?query=TCN2&submit=Quick%0D%15398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCN2	rs2267163	0.579872	0.6331	0.5670	1	0	0	intronic	intronic	intronic	TCN2	TCN2	ENSG00000185339	Na	Na	Na	Na	Na	Na	Het;T>C	450;8|15	Hom;T>C	780;1|26
N	N	-	22	31011610	31011610	G	C	snp	nonsynonymous SNV	G695C	R232P	polar,hydrophilic,charged(+)	hydrophobic,neutral	TCN2	Tcn2	ENSG00000185339	transcobalamin 2	chr22:31002825-31023265	This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Intracranial Aneurysm; Down Syndrome; Cleft Lip|Cleft Palate; Heart Defects, Congenital|Hyperhomocysteinemia; colorectal cancer; oxidative stress; Adenocarcinoma|Stomach Neoplasms; homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid; null; pregnancy loss, second trimester; orofacial clefts; brain cancer; Hyperhomocysteinemia; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; prostate cancer; Chronic renal failure|Kidney Failure, Chronic; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease, ischemic; Congenital Abnormalities|; Cleft Lip|Cleft Palate|; Alcoholism; Colitis, Ulcerative; neural tube defects; vascular disease; Brain Neoplasms|Meningioma; atherosclerosis; Alzheimer's Disease; Spinal Dysraphism; omphalocele; Premature Birth; neural tube defects ; cardiac defects; Central Nervous System Neoplasms|Lymphoma; Anemia, Iron-Deficiency|Avitaminosis; female infertility; malaria, plasmodium falciparum; Congenital Heart Defects|Heart Defects, Congenital; Congenital Heart Defects|Heart Defects, Congenital|Obesity; 1-carbon metabolism; spontaneous abortion; Infection|Inflammation|Premature Birth; folate homocysteine vitamin B12; Aortic Aneurysm, Abdominal|; Cerebrovascular Disorders; cleft lip with cleft palate cleft lip without cleft palate; kidney transplant complications; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Inflammation|Premature Birth	This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686).	Defective CD320 causes methylmalonic aciduria	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCN2		https://hpo.jax.org/app/browse/search?q=TCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613441	http://www.informatics.jax.org/searchtool/Search.do?query=TCN2&submit=Quick%0D%15398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCN2	rs1801198	0.579673	0.6333	0.5673	0.23	3	13	exonic	exonic	exonic	TCN2	TCN2	ENSG00000185339	nonsynonymous SNV	nonsynonymous SNV	unknown	TCN2:NM_001184726:exon6:c.G695C:p.R232P,TCN2:NM_000355:exon6:c.G776C:p.R259P,	TCN2:uc003air.2:exon6:c.G695C:p.R232P,TCN2:uc003aip.2:exon6:c.G776C:p.R259P,	UNKNOWN	Het;G>C	386;16|16	Hom;G>C	1322;0|41
N	N	-	22	31013296	31013296	G	A	snp	intronic	 	 	 	 	TCN2	Tcn2	ENSG00000185339	transcobalamin 2	chr22:31002825-31023265	This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Intracranial Aneurysm; Down Syndrome; Cleft Lip|Cleft Palate; Heart Defects, Congenital|Hyperhomocysteinemia; colorectal cancer; oxidative stress; Adenocarcinoma|Stomach Neoplasms; homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid; null; pregnancy loss, second trimester; orofacial clefts; brain cancer; Hyperhomocysteinemia; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; prostate cancer; Chronic renal failure|Kidney Failure, Chronic; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease, ischemic; Congenital Abnormalities|; Cleft Lip|Cleft Palate|; Alcoholism; Colitis, Ulcerative; neural tube defects; vascular disease; Brain Neoplasms|Meningioma; atherosclerosis; Alzheimer's Disease; Spinal Dysraphism; omphalocele; Premature Birth; neural tube defects ; cardiac defects; Central Nervous System Neoplasms|Lymphoma; Anemia, Iron-Deficiency|Avitaminosis; female infertility; malaria, plasmodium falciparum; Congenital Heart Defects|Heart Defects, Congenital; Congenital Heart Defects|Heart Defects, Congenital|Obesity; 1-carbon metabolism; spontaneous abortion; Infection|Inflammation|Premature Birth; folate homocysteine vitamin B12; Aortic Aneurysm, Abdominal|; Cerebrovascular Disorders; cleft lip with cleft palate cleft lip without cleft palate; kidney transplant complications; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Inflammation|Premature Birth	This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686).	Defective CD320 causes methylmalonic aciduria	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCN2		https://hpo.jax.org/app/browse/search?q=TCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613441	http://www.informatics.jax.org/searchtool/Search.do?query=TCN2&submit=Quick%0D%15398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCN2	rs2283873	0.167133	0.1182	0.0871	1	0	0	intronic	intronic	intronic	TCN2	TCN2	ENSG00000185339	Na	Na	Na	Na	Na	Na	Het;G>A	735;35|34	Hom;G>A	2191;2|83
N	N	-	22	31022733	31022733	A	T	snp	UTR3	*225A>T	 	 	 	TCN2	Tcn2	ENSG00000185339	transcobalamin 2	chr22:31002825-31023265	This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Intracranial Aneurysm; Down Syndrome; Cleft Lip|Cleft Palate; Heart Defects, Congenital|Hyperhomocysteinemia; colorectal cancer; oxidative stress; Adenocarcinoma|Stomach Neoplasms; homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid; null; pregnancy loss, second trimester; orofacial clefts; brain cancer; Hyperhomocysteinemia; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; prostate cancer; Chronic renal failure|Kidney Failure, Chronic; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease, ischemic; Congenital Abnormalities|; Cleft Lip|Cleft Palate|; Alcoholism; Colitis, Ulcerative; neural tube defects; vascular disease; Brain Neoplasms|Meningioma; atherosclerosis; Alzheimer's Disease; Spinal Dysraphism; omphalocele; Premature Birth; neural tube defects ; cardiac defects; Central Nervous System Neoplasms|Lymphoma; Anemia, Iron-Deficiency|Avitaminosis; female infertility; malaria, plasmodium falciparum; Congenital Heart Defects|Heart Defects, Congenital; Congenital Heart Defects|Heart Defects, Congenital|Obesity; 1-carbon metabolism; spontaneous abortion; Infection|Inflammation|Premature Birth; folate homocysteine vitamin B12; Aortic Aneurysm, Abdominal|; Cerebrovascular Disorders; cleft lip with cleft palate cleft lip without cleft palate; kidney transplant complications; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Inflammation|Premature Birth	This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686).	Defective CD320 causes methylmalonic aciduria	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCN2		https://hpo.jax.org/app/browse/search?q=TCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613441	http://www.informatics.jax.org/searchtool/Search.do?query=TCN2&submit=Quick%0D%15398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCN2	rs2072195	0.171925	0	0	1	0	0	UTR3	UTR3	UTR3	TCN2(NM_000355:c.*225A>T,NM_001184726:c.*225A>T)	TCN2(uc003air.2:c.*225A>T,uc003aip.2:c.*225A>T)	ENSG00000185339(ENST00000215838:c.*225A>T,ENST00000450638:c.*1520A>T,ENST00000405742:c.*225A>T,ENST00000407817:c.*225A>T)	Na	Na	Na	Na	Na	Na	Het;A>T	1400;62|66	Hom;A>T	3143;0|118
N	N	-	22	31043117	31043117	G	A	snp	UTR3	*99G>A	 	 	 	SLC35E4	Slc35e4	ENSG00000100036	solute carrier family 35 member E4	chr22:31031639-31065003			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SLC35E4	https://www.uniprot.org/uniprot/Q6ICL7			http://www.informatics.jax.org/searchtool/Search.do?query=SLC35E4&submit=Quick%0D%2386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35E4	rs2013928	0.0998403	0	0	1	0	0	UTR3	UTR3	UTR3	SLC35E4(NM_001001479:c.*99G>A)	SLC35E4(uc003ais.1:c.*99G>A)	ENSG00000100036(ENST00000343605:c.*99G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	218;7|9	Hom;G>A	643;0|20
N	N	-	22	31060029	31060029	G	C	snp	UTR5	-39C>G	 	 	 	DUSP18	Dusp18	ENSG00000167065	dual specificity phosphatase 18	chr22:31048038-31063877	Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP18 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]	Stroke	 		GO:0000188;inactivation of MAPK activity;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0017017;MAP kinase tyrosine/serine/threonine phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DUSP18			https://www.ncbi.nlm.nih.gov/omim/?term=611446	http://www.informatics.jax.org/searchtool/Search.do?query=DUSP18&submit=Quick%0D%11936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP18	rs1005887	0.48762	0.4226	0.3911	1	0	0	UTR5	UTR5	UTR5	DUSP18(NM_001304795:c.-39C>G,NM_001304794:c.-39C>G,NM_001304796:c.-39C>G,NM_152511:c.-39C>G)	DUSP18(uc003aiu.3:c.-39C>G,uc010gwa.3:c.-130C>G,uc003aiw.1:c.-39C>G)	ENSG00000167065(ENST00000407308:c.-39C>G,ENST00000404885:c.-39C>G,ENST00000377087:c.-39C>G,ENST00000403268:c.-39C>G,ENST00000334679:c.-39C>G,ENST00000342474:c.-39C>G,ENST00000442752:c.-39C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	309;25|15	Hom;G>C	1495;0|52
N	N	-	22	31503569	31503569	G	GCCCCGCCCCCGC	indel	upstream	 	 	 	 	INPP5J	Inpp5j	ENSG00000185133	inositol polyphosphate-5-phosphatase J	chr22:31518717-31530682			Mice homozygous for a null allele are viable, fertile, and show normal mammary gland development and no spontaneous mammary tumors. However, in an oncogene-driven breast cancer mouse model, mice show increased mammary hyperplasia and tumor growth paradoxically associated with reduced lung metastases.	Synthesis of IP3 and IP4 in the cytosol	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0031115;negative regulation of microtubule polymerization;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IEA	GO:0001726;ruffle;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0030426;growth cone;IEA|GO:0043198;dendritic shaft;IEA	GO:0004439;phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;TAS|GO:0004445;inositol-polyphosphate 5-phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0034485;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052658;inositol-1,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP5J			https://www.ncbi.nlm.nih.gov/omim/?term=606481	http://www.informatics.jax.org/searchtool/Search.do?query=INPP5J&submit=Quick%0D%15352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5J	rs28372912	0	0	0	1	0	0	upstream	upstream	intronic	SELM	INPP5J,SELM	ENSG00000198832	Na	Na	Na	Na	Na	Na	Het;+CCCCGCCCCCGC	409;4|11	Hom;+CCCCGCCCCCGC	367;0|9
N	N	-	22	31521404	31521404	G	A	snp	nonsynonymous SNV	G679A	A227T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	INPP5J	Inpp5j	ENSG00000185133	inositol polyphosphate-5-phosphatase J	chr22:31518717-31530682			Mice homozygous for a null allele are viable, fertile, and show normal mammary gland development and no spontaneous mammary tumors. However, in an oncogene-driven breast cancer mouse model, mice show increased mammary hyperplasia and tumor growth paradoxically associated with reduced lung metastases.	Synthesis of IP3 and IP4 in the cytosol	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0031115;negative regulation of microtubule polymerization;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IEA	GO:0001726;ruffle;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0030426;growth cone;IEA|GO:0043198;dendritic shaft;IEA	GO:0004439;phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;TAS|GO:0004445;inositol-polyphosphate 5-phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0034485;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052658;inositol-1,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP5J			https://www.ncbi.nlm.nih.gov/omim/?term=606481	http://www.informatics.jax.org/searchtool/Search.do?query=INPP5J&submit=Quick%0D%15352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5J	rs2240432	0.378395	0	0.3789	0.25	3	12	exonic	exonic	exonic	INPP5J	INPP5J	ENSG00000185133	nonsynonymous SNV	nonsynonymous SNV	unknown	INPP5J:NM_001284285:exon2:c.G679A:p.A227T,INPP5J:NM_001284286:exon3:c.G478A:p.A160T,	INPP5J:uc003aju.4:exon2:c.G679A:p.A227T,INPP5J:uc011alk.2:exon3:c.G478A:p.A160T,INPP5J:uc010gwf.3:exon4:c.G679A:p.A227T,	UNKNOWN	Het;G>A	1291;71|63	Hom;G>A	2657;2|100
N	N	-	22	31843567	31843567	G	C	snp	intronic	 	 	 	 	EIF4ENIF1	Eif4enif1	ENSG00000184708	eukaryotic translation initiation factor 4E nuclear import factor 1	chr22:31832963-31892094	The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]	Electrocardiography; Echocardiography; Respiratory Function Tests	 		GO:0006413;translational initiation;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0017148;negative regulation of translation;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045665;negative regulation of neuron differentiation;IEA	GO:0000932;P-body;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016605;PML body;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/EIF4ENIF1			https://www.ncbi.nlm.nih.gov/omim/?term=607445	http://www.informatics.jax.org/searchtool/Search.do?query=EIF4ENIF1&submit=Quick%0D%15260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF4ENIF1	rs2273251	0.238019	0.2022	0.2723	1	0	0	intronic	intronic	intronic	EIF4ENIF1	EIF4ENIF1	ENSG00000184708,ENSG00000185721	Na	Na	Na	Na	Na	Na	Het;G>C	821;40|40	Hom;G>C	1782;0|66
N	N	-	22	31904262	31904264	CTT	C	indel	UTR5;UTR3	-9_-7delinsC	 	 	 	SFI1	Sfi1	ENSG00000198089	SFI1 centrin binding protein	chr22:31884674-32014572			 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFI1			https://www.ncbi.nlm.nih.gov/omim/?term=612765	http://www.informatics.jax.org/searchtool/Search.do?query=SFI1&submit=Quick%0D%16812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFI1	rs146128116	0.0403355	0.0387	0.0569	1	0	0	UTR5	UTR5	UTR5;UTR3	SFI1(NM_001258326:c.-9_-7delinsC,NM_001258325:c.-9_-7delinsC,NM_014775:c.-9_-7delinsC,NM_001258327:c.-9_-7delinsC,NM_001007467:c.-9_-7delinsC)	SFI1(uc003ald.2:c.-9_-7delinsC,uc003ale.4:c.-9_-7delinsC,uc003alf.4:c.-9_-7delinsC,uc003alg.4:c.-9_-7delinsC,uc011alp.3:c.-9_-7delinsC,uc011alq.3:c.-9_-7delinsC)	ENSG00000198089(ENST00000414585:c.-9_-7delinsC,ENST00000443326:c.-9_-7delinsC,ENST00000540643:c.-9_-7delinsC,ENST00000432498:c.-9_-7delinsC,ENST00000443011:c.-9_-7delinsC,ENST00000411518:c.-9_-7delinsC,ENST00000400289:c.-9_-7delinsC,ENST00000444859:c.-9_-7delinsC,ENST00000400288:c.-9_-7delinsC,ENST00000524296:c.-9_-7delinsC);ENSG00000185721(ENST00000548143:c.*18_*20delinsC)	Na	Na	Na	Na	Na	Na	Het;-TT	1163;41|32	Hom;-TT	1378;2|54
N	N	-	22	31942770	31942770	G	A	snp	intronic	 	 	 	 	SFI1	Sfi1	ENSG00000198089	SFI1 centrin binding protein	chr22:31884674-32014572			 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFI1			https://www.ncbi.nlm.nih.gov/omim/?term=612765	http://www.informatics.jax.org/searchtool/Search.do?query=SFI1&submit=Quick%0D%16812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFI1	rs1968023	0.119609	0	0	1	0	0	intronic	intronic	intronic	SFI1	SFI1	ENSG00000198089	Na	Na	Na	Na	Na	Na	Het;G>A	290;13|13	Hom;G>A	513;0|18
N	N	-	22	32341141	32341141	T	C	snp	UTR5	-11108T>C	 	 	 	YWHAH	Ywhah	ENSG00000128245	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	chr22:32340447-32353590	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]	Parkinson's disease; Bipolar Disorder; breast cancer ; alcoholism; schizophrenia	 	Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	GO:0002028;regulation of sodium ion transport;IDA|GO:0006713;glucocorticoid catabolic process;IDA|GO:0006886;intracellular protein transport;ISS|GO:0021762;substantia nigra development;IEP|GO:0042921;glucocorticoid receptor signaling pathway;IDA|GO:0045664;regulation of neuron differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048167;regulation of synaptic plasticity;ISS|GO:0050774;negative regulation of dendrite morphogenesis;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0061024;membrane organization;TAS|GO:0086010;membrane depolarization during action potential;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA	GO:0005737;cytoplasm;ISS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0014704;intercalated disc;IC|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0004497;monooxygenase activity;IEA|GO:0005159;insulin-like growth factor receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;ISS|GO:0035259;glucocorticoid receptor binding;IPI|GO:0044325;ion channel binding;IPI|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/YWHAH	https://www.uniprot.org/uniprot/Q04917		https://www.ncbi.nlm.nih.gov/omim/?term=113508	http://www.informatics.jax.org/searchtool/Search.do?query=YWHAH&submit=Quick%0D%6110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAH	rs13057194	0.33127	0	0	1	0	0	intronic	UTR5	intronic	C22orf24,YWHAH	YWHAH(uc003ama.3:c.-11108T>C)	ENSG00000128245,ENSG00000128254	Na	Na	Na	Na	Na	Na	Het;T>C	164;5|8	Hom;T>C	475;0|13
N	N	-	22	32395966	32395966	T	TG	indel	intergenic	 	 	 	 	RN7SL305P																		rs201031998	0.0317492	0	0	1	0	0	intergenic	intergenic	intergenic	YWHAH(dist=42376),SLC5A1(dist=43053)	YWHAH(dist=42376),SLC5A1(dist=43053)	ENSG00000240647(dist=18552),ENSG00000232346(dist=39511)	Na	Na	Na	Na	Na	Na	Het;+G	3706;68|97	Hom;+G	10761;0|249
N	N	-	22	32395970	32395970	T	TG	indel	intergenic	 	 	 	 	RN7SL305P																		rs201783890	0.0317492	0	0	1	0	0	intergenic	intergenic	intergenic	YWHAH(dist=42380),SLC5A1(dist=43049)	YWHAH(dist=42380),SLC5A1(dist=43049)	ENSG00000240647(dist=18556),ENSG00000232346(dist=39507)	Na	Na	Na	Na	Na	Na	Het;+G	3664;63|90	Hom;+G	10768;0|234
N	N	-	22	32445946	32445946	A	G	snp	nonsynonymous SNV	A152G	N51S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs17683011	0.0211661	0.0511	0.0495	0.38	5	13	exonic	exonic	exonic	SLC5A1	SLC5A1	ENSG00000100170	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC5A1:NM_000343:exon2:c.A152G:p.N51S,	SLC5A1:uc003amc.3:exon2:c.A152G:p.N51S,	UNKNOWN	Het;A>G	444;56|28	Hom;A>G	2198;1|83
N	N	-	22	32463135	32463135	C	G	snp	intronic	 	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs55695217	0.0211661	0	0	1	0	0	intronic	intronic	intronic	SLC5A1	SLC5A1	ENSG00000100170	Na	Na	Na	Na	Na	Na	Het;C>G	32;7|2	Hom;C>G	320;0|12
N	N	-	22	32482321	32482321	T	G	snp	intronic	 	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs5998233	0.454073	0.5215	0.3742	1	0	0	intronic	intronic	intronic	SLC5A1	SLC5A1	ENSG00000100170	Na	Na	Na	Na	Na	Na	Het;T>G	1238;75|61	Hom;T>G	3440;3|126
N	N	-	22	32487700	32487700	G	A	snp	nonsynonymous SNV	G1231A	A411T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs17683430	0.0221645	0.0510	0.0501	0.23	3	13	exonic	exonic	exonic	SLC5A1	SLC5A1	ENSG00000100170	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC5A1:NM_000343:exon11:c.G1231A:p.A411T,SLC5A1:NM_001256314:exon10:c.G850A:p.A284T,	SLC5A1:uc003amc.3:exon11:c.G1231A:p.A411T,SLC5A1:uc011alz.2:exon10:c.G850A:p.A284T,	UNKNOWN	Het;G>A	802;47|40	Hom;G>A	2378;2|92
N	N	-	22	32487744	32487744	C	T	snp	synonymous SNV	C1275T	A425A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs17683448	0.0221645	0.0510	0.0502	1	0	0	exonic	exonic	exonic	SLC5A1	SLC5A1	ENSG00000100170	synonymous SNV	synonymous SNV	unknown	SLC5A1:NM_000343:exon11:c.C1275T:p.A425A,SLC5A1:NM_001256314:exon10:c.C894T:p.A298A,	SLC5A1:uc003amc.3:exon11:c.C1275T:p.A425A,SLC5A1:uc011alz.2:exon10:c.C894T:p.A298A,	UNKNOWN	Het;C>T	507;34|24	Hom;C>T	1770;4|70
N	N	-	22	32487815	32487815	C	G	snp	intronic	 	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs17683471	0.0215655	0	0	1	0	0	intronic	intronic	intronic	SLC5A1	SLC5A1	ENSG00000100170	Na	Na	Na	Na	Na	Na	Het;C>G	76;19|6	Hom;C>G	737;0|23
N	N	-	22	32501006	32501006	T	C	snp	intronic	 	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs77132907	0.0221645	0	0	1	0	0	intronic	intronic	intronic	SLC5A1	SLC5A1	ENSG00000100170	Na	Na	Na	Na	Na	Na	Het;T>C	251;15|11	Hom;T>C	697;0|20
N	N	-	22	32506041	32506041	A	G	snp	synonymous SNV	A1836G	L612L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs17683704	0.0221645	0.0510	0.0500	1	0	0	exonic	exonic	exonic	SLC5A1	SLC5A1	ENSG00000100170	synonymous SNV	synonymous SNV	unknown	SLC5A1:NM_000343:exon15:c.A1836G:p.L612L,SLC5A1:NM_001256314:exon14:c.A1455G:p.L485L,	SLC5A1:uc003amc.3:exon15:c.A1836G:p.L612L,SLC5A1:uc011alz.2:exon14:c.A1455G:p.L485L,	UNKNOWN	Het;A>G	1807;90|50	Hom;A>G	4763;6|114
N	N	-	22	32506050	32506050	C	G	snp	nonsynonymous SNV	C1845G	H615Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs33954001	0.0221645	0.0509	0.0500	0.08	1	13	exonic	exonic	exonic	SLC5A1	SLC5A1	ENSG00000100170	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC5A1:NM_000343:exon15:c.C1845G:p.H615Q,SLC5A1:NM_001256314:exon14:c.C1464G:p.H488Q,	SLC5A1:uc003amc.3:exon15:c.C1845G:p.H615Q,SLC5A1:uc011alz.2:exon14:c.C1464G:p.H488Q,	UNKNOWN	Het;C>G	1841;95|52	Hom;C>G	5101;6|129
N	N	-	22	32506143	32506143	C	T	snp	synonymous SNV	C1938T	N646N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs33954397	0.0221645	0.0510	0.0501	1	0	0	exonic	exonic	exonic	SLC5A1	SLC5A1	ENSG00000100170	synonymous SNV	synonymous SNV	unknown	SLC5A1:NM_000343:exon15:c.C1938T:p.N646N,SLC5A1:NM_001256314:exon14:c.C1557T:p.N519N,	SLC5A1:uc003amc.3:exon15:c.C1938T:p.N646N,SLC5A1:uc011alz.2:exon14:c.C1557T:p.N519N,	UNKNOWN	Het;C>T	978;82|53	Hom;C>T	3167;1|122
N	N	-	22	32508004	32508004	T	C	snp	UTR3	*1804T>C	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs17683807	0.17492	0	0	1	0	0	UTR3	UTR3	UTR3	SLC5A1(NM_000343:c.*1804T>C,NM_001256314:c.*1804T>C)	SLC5A1(uc003amc.3:c.*1804T>C,uc011alz.2:c.*1804T>C)	ENSG00000100170(ENST00000266088:c.*1804T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	181;26|12	Hom;T>C	570;0|20
N	N	-	22	32508140	32508140	G	A	snp	UTR3	*1940G>A	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs117112619	0.0221645	0	0	1	0	0	UTR3	UTR3	UTR3	SLC5A1(NM_000343:c.*1940G>A,NM_001256314:c.*1940G>A)	SLC5A1(uc003amc.3:c.*1940G>A,uc011alz.2:c.*1940G>A)	ENSG00000100170(ENST00000266088:c.*1940G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	200;16|11	Hom;G>A	1258;0|50
N	N	-	22	32515891	32515891	G	A	snp	intergenic	 	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs76859275	0.0217652	0	0	1	0	0	intergenic	intergenic	intergenic	SLC5A1(dist=6880),AP1B1P1(dist=2073)	SLC5A1(dist=6880),AP1B1P1(dist=2073)	ENSG00000100170(dist=6875),ENSG00000234479(dist=2073)	Na	Na	Na	Na	Na	Na	Het;G>A	78;3|3	Hom;G>A	197;0|5
N	N	-	22	32515901	32515901	G	A	snp	intergenic	 	 	 	 	SLC5A1	Slc5a1	ENSG00000100170	solute carrier family 5 member 1	chr22:32439019-32509016	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption.	Intestinal hexose absorption	GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1	https://www.uniprot.org/uniprot/P13866	https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182380	http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1	rs117656576	0.0215655	0	0	1	0	0	intergenic	intergenic	intergenic	SLC5A1(dist=6890),AP1B1P1(dist=2063)	SLC5A1(dist=6890),AP1B1P1(dist=2063)	ENSG00000100170(dist=6885),ENSG00000234479(dist=2063)	Na	Na	Na	Na	Na	Na	Het;G>A	78;3|3	Hom;G>A	197;0|5
N	N	-	22	32518130	32518130	C	T	snp	ncRNA_intronic	 	 	 	 	AP1B1P1																		rs5994466	0.470647	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	AP1B1P1	AP1B1P1	ENSG00000234479	Na	Na	Na	Na	Na	Na	Het;C>T	921;63|48	Hom;C>T	2445;0|91
N	N	-	22	32519810	32519810	A	C	snp	ncRNA_intronic	 	 	 	 	AP1B1P1																		rs117129307	0.0215655	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	AP1B1P1	AP1B1P1	ENSG00000234479	Na	Na	Na	Na	Na	Na	Het;A>C	245;17|11	Hom;A>C	644;0|20
N	N	-	22	32519836	32519836	G	A	snp	ncRNA_intronic	 	 	 	 	AP1B1P1																		rs9609433	0.453474	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	AP1B1P1	AP1B1P1	ENSG00000234479	Na	Na	Na	Na	Na	Na	Het;G>A	295;27|17	Hom;G>A	1051;0|39
N	N	-	22	32520016	32520016	A	G	snp	ncRNA_exonic	 	 	 	 	AP1B1P1																		rs77661466	0.0215655	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	AP1B1P1	AP1B1P1	ENSG00000234479	Na	Na	Na	Na	Na	Na	Het;A>G	843;44|42	Hom;A>G	1760;2|68
N	N	-	22	32530256	32530256	A	C	snp	downstream	 	 	 	 	AP1B1P2																		rs2006253	0.135982	0	0	1	0	0	downstream	downstream	downstream	AP1B1P1	AP1B1P1	ENSG00000232707,ENSG00000234479	Na	Na	Na	Na	Na	Na	Het;A>C	37;4|2	Hom;A>C	566;0|14
N	N	-	22	32545762	32545762	C	T	snp	synonymous SNV	G660A	K220K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	C22orf42	 	ENSG00000205856	chromosome 22 open reading frame 42	chr22:32544993-32555309			 					http://www.genecards.org/index.php?path=/Search/keyword/C22orf42				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf42&submit=Quick%0D%17572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf42	rs45494991	0.0231629	0.0485	0.0535	1	0	0	exonic	exonic	exonic	C22orf42	C22orf42	ENSG00000205856	synonymous SNV	synonymous SNV	unknown	C22orf42:NM_001010859:exon8:c.G660A:p.K220K,	C22orf42:uc003amd.3:exon8:c.G660A:p.K220K,	UNKNOWN	Het;C>T	381;86|25	Hom;C>T	1093;2|44
N	N	-	22	32545789	32545789	C	T	snp	intronic	 	 	 	 	C22orf42	 	ENSG00000205856	chromosome 22 open reading frame 42	chr22:32544993-32555309			 					http://www.genecards.org/index.php?path=/Search/keyword/C22orf42				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf42&submit=Quick%0D%17572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf42	rs45462396	0.0231629	0.0508	0.0523	1	0	0	intronic	intronic	intronic	C22orf42	C22orf42	ENSG00000205856	Na	Na	Na	Na	Na	Na	Het;C>T	518;89|32	Hom;C>T	1140;2|47
N	N	-	22	32547626	32547626	T	C	snp	intronic	 	 	 	 	C22orf42	 	ENSG00000205856	chromosome 22 open reading frame 42	chr22:32544993-32555309			 					http://www.genecards.org/index.php?path=/Search/keyword/C22orf42				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf42&submit=Quick%0D%17572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf42	rs5998254	0.440096	0	0	1	0	0	intronic	intronic	intronic	C22orf42	C22orf42	ENSG00000205856	Na	Na	Na	Na	Na	Na	Het;T>C	422;24|18	Hom;T>C	1019;0|34
N	N	-	22	32554996	32554996	C	T	snp	synonymous SNV	G207A	T69T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C22orf42	 	ENSG00000205856	chromosome 22 open reading frame 42	chr22:32544993-32555309			 					http://www.genecards.org/index.php?path=/Search/keyword/C22orf42				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf42&submit=Quick%0D%17572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf42	rs12160688	0.053115	0.0731	0.0588	1	0	0	exonic	exonic	exonic	C22orf42	C22orf42	ENSG00000205856	synonymous SNV	synonymous SNV	unknown	C22orf42:NM_001010859:exon1:c.G207A:p.T69T,	C22orf42:uc003amd.3:exon1:c.G207A:p.T69T,	UNKNOWN	Het;C>T	744;27|35	Hom;C>T	2528;0|66
N	N	-	22	32589023	32589023	C	T	snp	nonsynonymous SNV	G239A	C80Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	RFPL2		ENSG00000128253	ret finger protein like 2	chr22:32586422-32600718							GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RFPL2	https://www.uniprot.org/uniprot/O75678		https://www.ncbi.nlm.nih.gov/omim/?term=605969	http://www.informatics.jax.org/searchtool/Search.do?query=RFPL2&submit=Quick%0D%6112ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RFPL2	rs136478	0.367812	0.4676	0.3960	0.09	1	11	exonic	exonic	exonic	RFPL2	RFPL2	ENSG00000128253	nonsynonymous SNV	nonsynonymous SNV	unknown	RFPL2:NM_006605:exon1:c.G239A:p.C80Y,RFPL2:NM_001159545:exon3:c.G152A:p.C51Y,RFPL2:NM_001159546:exon3:c.G152A:p.C51Y,RFPL2:NM_001098527:exon4:c.G422A:p.C141Y,	RFPL2:uc003amh.3:exon3:c.G152A:p.C51Y,RFPL2:uc003amg.3:exon4:c.G422A:p.C141Y,RFPL2:uc003amf.3:exon3:c.G152A:p.C51Y,RFPL2:uc003ame.3:exon1:c.G239A:p.C80Y,	UNKNOWN	Het;C>T	3458;151|155	Hom;C>T	7480;0|260
N	N	-	22	32589417	32589417	C	G	snp	UTR5	-156G>C	 	 	 	RFPL2		ENSG00000128253	ret finger protein like 2	chr22:32586422-32600718							GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RFPL2	https://www.uniprot.org/uniprot/O75678		https://www.ncbi.nlm.nih.gov/omim/?term=605969	http://www.informatics.jax.org/searchtool/Search.do?query=RFPL2&submit=Quick%0D%6112ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RFPL2	rs3986033	0.033147	0	0	1	0	0	UTR5	UTR5	UTR5	RFPL2(NM_006605:c.-156G>C)	RFPL2(uc003ame.3:c.-156G>C)	ENSG00000128253(ENST00000248980:c.-156G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	477;33|23	Hom;C>G	1053;0|33
N	N	-	22	32590150	32590150	T	C	snp	intronic	 	 	 	 	RFPL2		ENSG00000128253	ret finger protein like 2	chr22:32586422-32600718							GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RFPL2	https://www.uniprot.org/uniprot/O75678		https://www.ncbi.nlm.nih.gov/omim/?term=605969	http://www.informatics.jax.org/searchtool/Search.do?query=RFPL2&submit=Quick%0D%6112ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RFPL2	rs62239001	0.0327476	0	0	1	0	0	intronic	intronic	intronic	RFPL2	RFPL2	ENSG00000128253	Na	Na	Na	Na	Na	Na	Het;T>C	1229;68|56	Hom;T>C	2285;6|90
N	N	-	22	32598529	32598529	C	T	snp	UTR5	-9355G>A	 	 	 	RFPL2		ENSG00000128253	ret finger protein like 2	chr22:32586422-32600718							GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RFPL2	https://www.uniprot.org/uniprot/O75678		https://www.ncbi.nlm.nih.gov/omim/?term=605969	http://www.informatics.jax.org/searchtool/Search.do?query=RFPL2&submit=Quick%0D%6112ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RFPL2	rs78293816	0.0269569	0	0	1	0	0	UTR5	UTR5	UTR5	RFPL2(NM_001159545:c.-9355G>A,NM_001159546:c.-9355G>A,NM_001098527:c.-91G>A)	RFPL2(uc003amf.3:c.-9355G>A,uc003amg.3:c.-91G>A,uc003amh.3:c.-9355G>A)	ENSG00000128253(ENST00000400236:c.-9355G>A,ENST00000248983:c.-9355G>A,ENST00000400237:c.-91G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	726;24|33	Hom;C>T	950;1|34
N	N	-	22	32617129	32617129	T	C	snp	ncRNA_intronic	 	 	 	 	SLC5A4-AS1																		rs78572284	0.0245607	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SLC5A4	SLC5A4	ENSG00000242082	Na	Na	Na	Na	Na	Na	Het;T>C	137;11|6	Hom;T>C	546;0|15
N	N	-	22	32701395	32701395	T	G	snp	intergenic	 	 	 	 	AL008723.3																		rs62241122	0.217252	0	0	1	0	0	intergenic	intergenic	intergenic	SLC5A4(dist=50077),RFPL3(dist=49477)	SLC5A4(dist=50077),JB153905(dist=42728)	ENSG00000273325(dist=20277),ENSG00000234626(dist=21763)	Na	Na	Na	Na	Na	Na	Het;T>G	90;4|6	Hom;T>G	393;1|16
N	N	-	22	32740835	32740835	G	A	snp	intergenic	 	 	 	 	AL021937.3																		rs73166353	0.0231629	0	0	1	0	0	intergenic	intergenic	intergenic	SLC5A4(dist=89517),RFPL3(dist=10037)	SLC5A4(dist=89517),JB153905(dist=3288)	ENSG00000234626(dist=1743),ENSG00000128276(dist=10037)	Na	Na	Na	Na	Na	Na	Het;G>A	301;7|14	Hom;G>A	711;0|27
N	N	-	22	33196693	33196693	T	C	snp	intronic	 	 	 	 	SYN3	Syn3	ENSG00000185666	synapsin III	chr22:32908539-33454358	This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]	Glucose; Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting; Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Macular Degeneration; Eosinophils; Body Weight; attention deficit hyperactivity disorder; Narcolepsy; multiple sclerosis; Chronic renal failure|Kidney Failure, Chronic; Insulin; bipolar disorder schizophrenia; Body Height; Tobacco Use Disorder; Electrocardiography; Albumins	Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons.	Dopamine Neurotransmitter Release Cycle	GO:0007269;neurotransmitter secretion;TAS|GO:0032228;regulation of synaptic transmission, GABAergic;TAS	GO:0008021;synaptic vesicle;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SYN3			https://www.ncbi.nlm.nih.gov/omim/?term=602705	http://www.informatics.jax.org/searchtool/Search.do?query=SYN3&submit=Quick%0D%15462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYN3	rs9619311	0.353834	0	0	1	0	0	intronic	intronic	intronic	SYN3	SYN3	ENSG00000185666	Na	Na	Na	Na	Na	Na	Het;T>C	61;4|3	Hom;T>C	118;0|4
N	N	-	22	33197074	33197074	A	G	snp	UTR5	-914A>G	 	 	 	TIMP3	Timp3	ENSG00000100234	TIMP metallopeptidase inhibitor 3	chr22:33197687-33259030	This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; breast cancer; ovarian cancer; diabetes, type 2; kidney aging; pancreatic endocrine tumors; pulmonary fibrosis; Pigeon breeders disease; retinopathy, diabetic; schizophrenia; breast cancer ; Inflammation|Premature Birth; abdominal aortic aneurysm; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Retinal Diseases; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; brain aneurysm; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Infection|Inflammation|Premature Birth; Lymphoma, Non-Hodgkin; Macular Degeneration; Hepatitis C, Chronic|Liver Cirrhosis; Choroidal Neovascularization|Geographic Atrophy	Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution.  Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy.	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0007601;visual perception;IEA|GO:0010033;response to organic substance;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0071310;cellular response to organic substance;IEA|GO:1903984;positive regulation of TRAIL-activated apoptotic signaling pathway;IMP|GO:1904684;negative regulation of metalloendopeptidase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IBA|GO:0004857;enzyme inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP3	https://www.uniprot.org/uniprot/P35625	https://hpo.jax.org/app/browse/search?q=TIMP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188826	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP3&submit=Quick%0D%2443ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP3	rs2234921	0.341853	0	0	1	0	0	UTR5	UTR5	intronic	TIMP3(NM_000362:c.-914A>G)	TIMP3(uc003anb.3:c.-914A>G)	ENSG00000185666	Na	Na	Na	Na	Na	Na	Het;A>G	272;24|16	Hom;A>G	536;0|21
N	N	-	22	33253280	33253280	T	C	snp	synonymous SNV	T249C	H83H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	TIMP3	Timp3	ENSG00000100234	TIMP metallopeptidase inhibitor 3	chr22:33197687-33259030	This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; breast cancer; ovarian cancer; diabetes, type 2; kidney aging; pancreatic endocrine tumors; pulmonary fibrosis; Pigeon breeders disease; retinopathy, diabetic; schizophrenia; breast cancer ; Inflammation|Premature Birth; abdominal aortic aneurysm; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Retinal Diseases; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; brain aneurysm; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Infection|Inflammation|Premature Birth; Lymphoma, Non-Hodgkin; Macular Degeneration; Hepatitis C, Chronic|Liver Cirrhosis; Choroidal Neovascularization|Geographic Atrophy	Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution.  Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy.	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0007601;visual perception;IEA|GO:0010033;response to organic substance;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0071310;cellular response to organic substance;IEA|GO:1903984;positive regulation of TRAIL-activated apoptotic signaling pathway;IMP|GO:1904684;negative regulation of metalloendopeptidase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IBA|GO:0004857;enzyme inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP3	https://www.uniprot.org/uniprot/P35625	https://hpo.jax.org/app/browse/search?q=TIMP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188826	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP3&submit=Quick%0D%2443ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP3	rs9862	0.650958	0.6127	0.5518	1	0	0	exonic	exonic	exonic	TIMP3	TIMP3	ENSG00000100234	synonymous SNV	synonymous SNV	unknown	TIMP3:NM_000362:exon3:c.T249C:p.H83H,	TIMP3:uc003anb.3:exon3:c.T249C:p.H83H,	UNKNOWN	Het;T>C	558;78|32	Hom;T>C	1961;0|70
N	N	-	22	33257322	33257322	T	C	snp	UTR3	*1958T>C	 	 	 	TIMP3	Timp3	ENSG00000100234	TIMP metallopeptidase inhibitor 3	chr22:33197687-33259030	This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; breast cancer; ovarian cancer; diabetes, type 2; kidney aging; pancreatic endocrine tumors; pulmonary fibrosis; Pigeon breeders disease; retinopathy, diabetic; schizophrenia; breast cancer ; Inflammation|Premature Birth; abdominal aortic aneurysm; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Retinal Diseases; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; brain aneurysm; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Infection|Inflammation|Premature Birth; Lymphoma, Non-Hodgkin; Macular Degeneration; Hepatitis C, Chronic|Liver Cirrhosis; Choroidal Neovascularization|Geographic Atrophy	Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution.  Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy.	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0007601;visual perception;IEA|GO:0010033;response to organic substance;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0071310;cellular response to organic substance;IEA|GO:1903984;positive regulation of TRAIL-activated apoptotic signaling pathway;IMP|GO:1904684;negative regulation of metalloendopeptidase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IBA|GO:0004857;enzyme inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP3	https://www.uniprot.org/uniprot/P35625	https://hpo.jax.org/app/browse/search?q=TIMP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188826	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP3&submit=Quick%0D%2443ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP3	rs1427384	0.241813	0	0	1	0	0	UTR3	UTR3	UTR3	TIMP3(NM_000362:c.*1958T>C)	TIMP3(uc003anb.3:c.*1958T>C)	ENSG00000100234(ENST00000266085:c.*1958T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	904;62|43	Hom;T>C	3319;3|125
N	N	-	22	33257378	33257378	C	CAGA	indel	UTR3	*2014C>CAGA	 	 	 	TIMP3	Timp3	ENSG00000100234	TIMP metallopeptidase inhibitor 3	chr22:33197687-33259030	This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; breast cancer; ovarian cancer; diabetes, type 2; kidney aging; pancreatic endocrine tumors; pulmonary fibrosis; Pigeon breeders disease; retinopathy, diabetic; schizophrenia; breast cancer ; Inflammation|Premature Birth; abdominal aortic aneurysm; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Retinal Diseases; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; brain aneurysm; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Infection|Inflammation|Premature Birth; Lymphoma, Non-Hodgkin; Macular Degeneration; Hepatitis C, Chronic|Liver Cirrhosis; Choroidal Neovascularization|Geographic Atrophy	Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution.  Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy.	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0007601;visual perception;IEA|GO:0010033;response to organic substance;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0071310;cellular response to organic substance;IEA|GO:1903984;positive regulation of TRAIL-activated apoptotic signaling pathway;IMP|GO:1904684;negative regulation of metalloendopeptidase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IBA|GO:0004857;enzyme inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP3	https://www.uniprot.org/uniprot/P35625	https://hpo.jax.org/app/browse/search?q=TIMP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188826	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP3&submit=Quick%0D%2443ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP3	rs16447	0.225439	0	0	1	0	0	UTR3	UTR3	UTR3	TIMP3(NM_000362:c.*2014C>CAGA)	TIMP3(uc003anb.3:c.*2014C>CAGA)	ENSG00000100234(ENST00000266085:c.*2014C>CAGA)	Na	Na	Na	Na	Na	Na	Het;+AGA	1607;71|44	Hom;+AGA	2417;3|89
N	N	-	22	33258288	33258288	T	C	snp	UTR3	*2924T>C	 	 	 	TIMP3	Timp3	ENSG00000100234	TIMP metallopeptidase inhibitor 3	chr22:33197687-33259030	This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; breast cancer; ovarian cancer; diabetes, type 2; kidney aging; pancreatic endocrine tumors; pulmonary fibrosis; Pigeon breeders disease; retinopathy, diabetic; schizophrenia; breast cancer ; Inflammation|Premature Birth; abdominal aortic aneurysm; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Retinal Diseases; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; brain aneurysm; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Infection|Inflammation|Premature Birth; Lymphoma, Non-Hodgkin; Macular Degeneration; Hepatitis C, Chronic|Liver Cirrhosis; Choroidal Neovascularization|Geographic Atrophy	Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution.  Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy.	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0007601;visual perception;IEA|GO:0010033;response to organic substance;IBA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0071310;cellular response to organic substance;IEA|GO:1903984;positive regulation of TRAIL-activated apoptotic signaling pathway;IMP|GO:1904684;negative regulation of metalloendopeptidase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IBA|GO:0004857;enzyme inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMP3	https://www.uniprot.org/uniprot/P35625	https://hpo.jax.org/app/browse/search?q=TIMP3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188826	http://www.informatics.jax.org/searchtool/Search.do?query=TIMP3&submit=Quick%0D%2443ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMP3	rs1065314	0.227236	0	0	1	0	0	UTR3	UTR3	UTR3	TIMP3(NM_000362:c.*2924T>C)	TIMP3(uc003anb.3:c.*2924T>C)	ENSG00000100234(ENST00000266085:c.*2924T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	703;35|33	Hom;T>C	2099;0|77
N	N	-	22	33259064	33259064	C	T	snp	intronic	 	 	 	 	SYN3	Syn3	ENSG00000185666	synapsin III	chr22:32908539-33454358	This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]	Glucose; Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting; Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Macular Degeneration; Eosinophils; Body Weight; attention deficit hyperactivity disorder; Narcolepsy; multiple sclerosis; Chronic renal failure|Kidney Failure, Chronic; Insulin; bipolar disorder schizophrenia; Body Height; Tobacco Use Disorder; Electrocardiography; Albumins	Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons.	Dopamine Neurotransmitter Release Cycle	GO:0007269;neurotransmitter secretion;TAS|GO:0032228;regulation of synaptic transmission, GABAergic;TAS	GO:0008021;synaptic vesicle;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SYN3			https://www.ncbi.nlm.nih.gov/omim/?term=602705	http://www.informatics.jax.org/searchtool/Search.do?query=SYN3&submit=Quick%0D%15462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYN3	rs5754315	0.222644	0	0	1	0	0	intronic	intronic	intronic	SYN3	SYN3	ENSG00000185666	Na	Na	Na	Na	Na	Na	Het;C>T	901;68|46	Hom;C>T	3070;0|117
N	N	-	22	33259104	33259104	A	G	snp	intronic	 	 	 	 	SYN3	Syn3	ENSG00000185666	synapsin III	chr22:32908539-33454358	This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]	Glucose; Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting; Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Macular Degeneration; Eosinophils; Body Weight; attention deficit hyperactivity disorder; Narcolepsy; multiple sclerosis; Chronic renal failure|Kidney Failure, Chronic; Insulin; bipolar disorder schizophrenia; Body Height; Tobacco Use Disorder; Electrocardiography; Albumins	Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons.	Dopamine Neurotransmitter Release Cycle	GO:0007269;neurotransmitter secretion;TAS|GO:0032228;regulation of synaptic transmission, GABAergic;TAS	GO:0008021;synaptic vesicle;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SYN3			https://www.ncbi.nlm.nih.gov/omim/?term=602705	http://www.informatics.jax.org/searchtool/Search.do?query=SYN3&submit=Quick%0D%15462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYN3	rs137487	0.578075	0	0	1	0	0	intronic	intronic	intronic	SYN3	SYN3	ENSG00000185666	Na	Na	Na	Na	Na	Na	Het;A>G	591;44|27	Hom;A>G	1859;0|66
N	N	-	22	33396759	33396759	C	T	snp	intronic	 	 	 	 	SYN3	Syn3	ENSG00000185666	synapsin III	chr22:32908539-33454358	This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]	Glucose; Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting; Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Macular Degeneration; Eosinophils; Body Weight; attention deficit hyperactivity disorder; Narcolepsy; multiple sclerosis; Chronic renal failure|Kidney Failure, Chronic; Insulin; bipolar disorder schizophrenia; Body Height; Tobacco Use Disorder; Electrocardiography; Albumins	Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons.	Dopamine Neurotransmitter Release Cycle	GO:0007269;neurotransmitter secretion;TAS|GO:0032228;regulation of synaptic transmission, GABAergic;TAS	GO:0008021;synaptic vesicle;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SYN3			https://www.ncbi.nlm.nih.gov/omim/?term=602705	http://www.informatics.jax.org/searchtool/Search.do?query=SYN3&submit=Quick%0D%15462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYN3	rs73162045	0.0788738	0	0	1	0	0	intronic	intronic	intronic	SYN3	SYN3	ENSG00000185666	Na	Na	Na	Na	Na	Na	Het;C>T	53;2|4	Hom;C>T	56;0|4
N	N	-	22	33411326	33411326	G	T	snp	ncRNA_exonic	 	 	 	 	Z83846.1																		rs5998693	0.212061	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SYN3	SYN3	ENSG00000228194	Na	Na	Na	Na	Na	Na	Het;G>T	743;33|38	Hom;G>T	1358;0|55
N	N	-	22	33411446	33411446	G	A	snp	ncRNA_exonic	 	 	 	 	Z83846.1																		rs470008	0.608427	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SYN3	SYN3	ENSG00000228194	Na	Na	Na	Na	Na	Na	Het;G>A	411;11|16	Hom;G>A	477;0|18
N	N	-	22	35845570	35845570	T	C	snp	intergenic	 	 	 	 	MCM5	Mcm5	ENSG00000100297	minichromosome maintenance complex component 5	chr22:35796056-35821423	The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]	Leukemia, Lymphocytic, Chronic, B-Cell; Chronic renal failure|Kidney Failure, Chronic; breast cancer	Mice homozygous for an ENU-induced allele exhibit embryonic lethality.	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;IEA|GO:0006270;DNA replication initiation;IEA|GO:0007049;cell cycle;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051301;cell division;IEA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IDA|GO:0042555;MCM complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003678;DNA helicase activity;IEA|GO:0003682;chromatin binding;IEA|GO:0003688;DNA replication origin binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MCM5	https://www.uniprot.org/uniprot/P33992	https://hpo.jax.org/app/browse/search?q=MCM5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602696	http://www.informatics.jax.org/searchtool/Search.do?query=MCM5&submit=Quick%0D%2464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM5	rs28582279	0	0	0	1	0	0	intergenic	intergenic	intergenic	MCM5(dist=25075),RASD2(dist=91782)	MCM5(dist=25075),RASD2(dist=91782)	ENSG00000100297(dist=24147),ENSG00000233388(dist=52338)	Na	Na	Na	Na	Na	Na	Het;T>C	260;3|13	Hom;T>C	538;0|20
N	N	-	22	36537500	36537500	A	T	snp	synonymous SNV	T357A	G119G	aliphatic,neutral	aliphatic,neutral	APOL3	Apol11b	ENSG00000128284	apolipoprotein L3	chr22:36536372-36562225	This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	prostate cancer; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Hip	 		GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0004871;signal transducer activity;IMP|GO:0005319;lipid transporter activity;TAS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOL3	https://www.uniprot.org/uniprot/O95236		https://www.ncbi.nlm.nih.gov/omim/?term=607253	http://www.informatics.jax.org/searchtool/Search.do?query=APOL3&submit=Quick%0D%6120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL3	rs132618	0.36262	0.3651	0.4488	1	0	0	exonic	exonic	exonic	APOL3	APOL3	ENSG00000128284	synonymous SNV	synonymous SNV	unknown	APOL3:NM_145641:exon5:c.T357A:p.G119G,APOL3:NM_145642:exon4:c.T357A:p.G119G,APOL3:NM_145640:exon3:c.T957A:p.G319G,	APOL3:uc021wol.1:exon1:c.T357A:p.G119G,APOL3:uc003aot.3:exon3:c.T957A:p.G319G,APOL3:uc003aos.3:exon4:c.T744A:p.G248G,APOL3:uc003aou.3:exon5:c.T357A:p.G119G,APOL3:uc003aoq.3:exon5:c.T744A:p.G248G,APOL3:uc003aor.3:exon4:c.T744A:p.G248G,APOL3:uc003aov.3:exon4:c.T357A:p.G119G,	UNKNOWN	Het;A>T	1037;66|50	Hom;A>T	2421;0|80
N	N	-	22	36541725	36541725	G	T	snp	intronic	 	 	 	 	APOL3	Apol11b	ENSG00000128284	apolipoprotein L3	chr22:36536372-36562225	This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	prostate cancer; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Hip	 		GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0004871;signal transducer activity;IMP|GO:0005319;lipid transporter activity;TAS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOL3	https://www.uniprot.org/uniprot/O95236		https://www.ncbi.nlm.nih.gov/omim/?term=607253	http://www.informatics.jax.org/searchtool/Search.do?query=APOL3&submit=Quick%0D%6120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL3	rs1807672	0.472644	0	0	1	0	0	intronic	intronic	intronic	APOL3	APOL3	ENSG00000128284	Na	Na	Na	Na	Na	Na	Het;G>T	198;5|8	Hom;G>T	310;0|11
N	N	-	22	36545137	36545137	A	T	snp	unknown	 	 	 	 	APOL3	Apol11b	ENSG00000128284	apolipoprotein L3	chr22:36536372-36562225	This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	prostate cancer; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Hip	 		GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0004871;signal transducer activity;IMP|GO:0005319;lipid transporter activity;TAS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOL3	https://www.uniprot.org/uniprot/O95236		https://www.ncbi.nlm.nih.gov/omim/?term=607253	http://www.informatics.jax.org/searchtool/Search.do?query=APOL3&submit=Quick%0D%6120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL3	rs132642	0.941693	0.8829	0.8839	1	0	0	intronic	UTR5	exonic	APOL3	APOL3(uc003aoq.3:c.-34T>A,uc003aor.3:c.-34T>A,uc003aos.3:c.-34T>A)	ENSG00000128284	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>T	812;34|39	Hom;A>T	1443;0|55
N	N	-	22	36551916	36551916	C	T	snp	intronic	 	 	 	 	APOL3	Apol11b	ENSG00000128284	apolipoprotein L3	chr22:36536372-36562225	This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	prostate cancer; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Hip	 		GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0004871;signal transducer activity;IMP|GO:0005319;lipid transporter activity;TAS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOL3	https://www.uniprot.org/uniprot/O95236		https://www.ncbi.nlm.nih.gov/omim/?term=607253	http://www.informatics.jax.org/searchtool/Search.do?query=APOL3&submit=Quick%0D%6120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL3	rs2097465	0.215056	0	0	1	0	0	intronic	intronic	intronic	APOL3	APOL3	ENSG00000128284	Na	Na	Na	Na	Na	Na	Het;C>T	218;4|8	Hom;C>T	318;0|14
N	N	-	22	36556823	36556823	G	T	snp	nonsynonymous SNV	C117A	S39R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	APOL3	Apol11b	ENSG00000128284	apolipoprotein L3	chr22:36536372-36562225	This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]	prostate cancer; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Hip	 		GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA	GO:0004871;signal transducer activity;IMP|GO:0005319;lipid transporter activity;TAS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOL3	https://www.uniprot.org/uniprot/O95236		https://www.ncbi.nlm.nih.gov/omim/?term=607253	http://www.informatics.jax.org/searchtool/Search.do?query=APOL3&submit=Quick%0D%6120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL3	rs132653	0.784744	0.7159	0.8306	0.31	4	13	exonic	exonic	exonic	APOL3	APOL3	ENSG00000128284	nonsynonymous SNV	nonsynonymous SNV	unknown	APOL3:NM_145640:exon1:c.C117A:p.S39R,	APOL3:uc003aot.3:exon1:c.C117A:p.S39R,	UNKNOWN	Het;G>T	367;22|18	Hom;G>T	755;0|28
N	N	-	22	36657596	36657596	A	G	snp	intronic	 	 	 	 	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs713929	0.864018	0.8515	0.8371	1	0	0	intronic	intronic	intronic	APOL1	APOL1	ENSG00000100342	Na	Na	Na	Na	Na	Na	Het;A>G	1079;43|49	Hom;A>G	1614;0|56
N	N	-	22	36657628	36657628	T	G	snp	intronic	 	 	 	 	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs136163	0.863818	0.8481	0.8342	1	0	0	intronic	intronic	intronic	APOL1	APOL1	ENSG00000100342	Na	Na	Na	Na	Na	Na	Het;T>G	1278;74|58	Hom;T>G	2755;0|99
N	N	-	22	36657789	36657789	T	C	snp	intronic	 	 	 	 	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs136164	0.665136	0.5803	0.6458	1	0	0	intronic	intronic	intronic	APOL1	APOL1	ENSG00000100342	Na	Na	Na	Na	Na	Na	Het;T>C	1268;63|55	Hom;T>C	3596;0|126
N	N	-	22	36661149	36661149	A	G	snp	intronic	 	 	 	 	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs136169	0.863818	0.8492	0.8339	1	0	0	intronic	intronic	intronic	APOL1	APOL1	ENSG00000100342	Na	Na	Na	Na	Na	Na	Het;A>G	581;7|15	Hom;A>G	1142;0|26
N	N	-	22	36661152	36661152	G	A	snp	intronic	 	 	 	 	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs28480494	0.861022	0.8492	0.8326	1	0	0	intronic	intronic	intronic	APOL1	APOL1	ENSG00000100342	Na	Na	Na	Na	Na	Na	Het;G>A	581;7|15	Hom;G>A	1167;0|27
N	N	-	22	36661330	36661330	G	A	snp	nonsynonymous SNV	G448A	E150K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs2239785	0.678115	0.6529	0.7800	0.23	3	13	exonic	exonic	exonic	APOL1	APOL1	ENSG00000100342	nonsynonymous SNV	nonsynonymous SNV	unknown	APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_145343:exon7:c.G496A:p.E166K,APOL1:NM_001136541:exon5:c.G394A:p.E132K,	APOL1:uc011amq.2:exon5:c.G394A:p.E132K,APOL1:uc011amo.2:exon3:c.G79A:p.E27K,APOL1:uc011amn.1:exon7:c.G79A:p.E27K,APOL1:uc011amp.2:exon6:c.G448A:p.E150K,APOL1:uc003apf.3:exon6:c.G448A:p.E150K,APOL1:uc010gwx.3:exon7:c.G79A:p.E27K,APOL1:uc003ape.3:exon7:c.G496A:p.E166K,	UNKNOWN	Het;G>A	1106;53|53	Hom;G>A	2342;0|85
N	N	-	22	36661536	36661536	C	A	snp	synonymous SNV	C600A	A200A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs136174	0.864217	0.8468	0.8360	1	0	0	exonic	exonic	exonic	APOL1	APOL1	ENSG00000100342	synonymous SNV	synonymous SNV	unknown	APOL1:NM_001136540:exon6:c.C654A:p.A218A,APOL1:NM_003661:exon6:c.C654A:p.A218A,APOL1:NM_145343:exon7:c.C702A:p.A234A,APOL1:NM_001136541:exon5:c.C600A:p.A200A,	APOL1:uc011amq.2:exon5:c.C600A:p.A200A,APOL1:uc011amo.2:exon3:c.C285A:p.A95A,APOL1:uc011amn.1:exon7:c.C285A:p.A95A,APOL1:uc011amp.2:exon6:c.C654A:p.A218A,APOL1:uc003apf.3:exon6:c.C654A:p.A218A,APOL1:uc010gwx.3:exon7:c.C285A:p.A95A,APOL1:uc003ape.3:exon7:c.C702A:p.A234A,	UNKNOWN	Het;C>A	2116;142|108	Hom;C>A	5910;0|200
N	N	-	22	36661566	36661566	G	A	snp	nonsynonymous SNV	G684A	M228I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs136175	0.864217	0.8469	0.8364	0.08	1	13	exonic	exonic	exonic	APOL1	APOL1	ENSG00000100342	nonsynonymous SNV	nonsynonymous SNV	unknown	APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_145343:exon7:c.G732A:p.M244I,APOL1:NM_001136541:exon5:c.G630A:p.M210I,	APOL1:uc011amq.2:exon5:c.G630A:p.M210I,APOL1:uc011amo.2:exon3:c.G315A:p.M105I,APOL1:uc011amn.1:exon7:c.G315A:p.M105I,APOL1:uc011amp.2:exon6:c.G684A:p.M228I,APOL1:uc003apf.3:exon6:c.G684A:p.M228I,APOL1:uc010gwx.3:exon7:c.G315A:p.M105I,APOL1:uc003ape.3:exon7:c.G732A:p.M244I,	UNKNOWN	Het;G>A	1872;139|94	Hom;G>A	5509;0|190
N	N	-	22	36661646	36661646	G	A	snp	nonsynonymous SNV	G764A	R255K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs136176	0.86262	0.8490	0.8349	0.08	1	13	exonic	exonic	exonic	APOL1	APOL1	ENSG00000100342	nonsynonymous SNV	nonsynonymous SNV	unknown	APOL1:NM_001136540:exon6:c.G764A:p.R255K,APOL1:NM_003661:exon6:c.G764A:p.R255K,APOL1:NM_145343:exon7:c.G812A:p.R271K,APOL1:NM_001136541:exon5:c.G710A:p.R237K,	APOL1:uc011amq.2:exon5:c.G710A:p.R237K,APOL1:uc011amo.2:exon3:c.G395A:p.R132K,APOL1:uc011amn.1:exon7:c.G395A:p.R132K,APOL1:uc011amp.2:exon6:c.G764A:p.R255K,APOL1:uc003apf.3:exon6:c.G764A:p.R255K,APOL1:uc010gwx.3:exon7:c.G395A:p.R132K,APOL1:uc003ape.3:exon7:c.G812A:p.R271K,	UNKNOWN	Het;G>A	1882;135|92	Hom;G>A	7168;0|252
N	N	-	22	36661842	36661842	G	A	snp	synonymous SNV	G906A	R302R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	APOL1	Apol11b	ENSG00000100342	apolipoprotein L1	chr22:36649056-36663576	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]	Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null	 	Post-translational protein phosphorylation	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA	GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOL1	https://www.uniprot.org/uniprot/O14791		https://www.ncbi.nlm.nih.gov/omim/?term=603743	http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1	rs136177	0.853235	0.8398	0.8319	1	0	0	exonic	exonic	exonic	APOL1	APOL1	ENSG00000100342	synonymous SNV	synonymous SNV	unknown	APOL1:NM_001136540:exon6:c.G960A:p.R320R,APOL1:NM_003661:exon6:c.G960A:p.R320R,APOL1:NM_145343:exon7:c.G1008A:p.R336R,APOL1:NM_001136541:exon5:c.G906A:p.R302R,	APOL1:uc011amq.2:exon5:c.G906A:p.R302R,APOL1:uc011amo.2:exon3:c.G591A:p.R197R,APOL1:uc011amn.1:exon7:c.G591A:p.R197R,APOL1:uc011amp.2:exon6:c.G960A:p.R320R,APOL1:uc003apf.3:exon6:c.G960A:p.R320R,APOL1:uc010gwx.3:exon7:c.G591A:p.R197R,APOL1:uc003ape.3:exon7:c.G1008A:p.R336R,	UNKNOWN	Het;G>A	2516;120|115	Hom;G>A	5009;0|179
N	N	-	22	36716209	36716209	G	A	snp	intronic	 	 	 	 	MYH9	Myh9	ENSG00000100345	myosin heavy chain 9	chr22:36677327-36784063	This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]	thrombocytopenia; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Glomerulonephritis|Hypertension|Kidney Failure, Chronic; Albuminuria|Hypertension; Cleft Lip|Cleft Palate; Chronic renal failure|Kidney Failure, Chronic; Eye; Cleft Lip|Cleft Palate|; AIDS-Associated Nephropathy|Glomerulosclerosis, Focal Segmental|Hypertension; Chronic renal failure|Diabetes mellitus|Endocrine System Diseases|Kidney Failure, Chronic|Urologic Diseases; null; Deafness; Type 2 diabetes; schizophrenia; Kidney Diseases; Schizophrenia; Lupus Nephritis|Nephritis SLE; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental	Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance. Mice homozygous or heterozygous for one of several knock-in alleles exhibit macrothrombocytopenia, nephritis, cataracts and deafness.	RHO GTPases activate PAKs	GO:0000212;meiotic spindle organization;IEA|GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001525;angiogenesis;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001768;establishment of T cell polarity;IEA|GO:0006509;membrane protein ectodomain proteolysis;IDA|GO:0006911;phagocytosis, engulfment;ISS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007520;myoblast fusion;IEA|GO:0008360;regulation of cell shape;IEA|GO:0015031;protein transport;IMP|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030048;actin filament-based movement;IDA|GO:0030220;platelet formation;IMP|GO:0030224;monocyte differentiation;IEP|GO:0031032;actomyosin structure organization;IDA|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0032506;cytokinetic process;IMP|GO:0032796;uropod organization;IEA|GO:0043534;blood vessel endothelial cell migration;IMP|GO:0050900;leukocyte migration;NAS|GO:0051295;establishment of meiotic spindle localization;IEA|GO:0070527;platelet aggregation;IMP|GO:1903919;negative regulation of actin filament severing;IMP|GO:1903923;positive regulation of protein processing in phagocytic vesicle;ISS	GO:0001725;stress fiber;IDA|GO:0001726;ruffle;IDA|GO:0001772;immunological synapse;IDA|GO:0001931;uropod;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005826;actomyosin contractile ring;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;ISS|GO:0005938;cell cortex;IEA|GO:0008180;COP9 signalosome;IDA|GO:0008305;integrin complex;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016460;myosin II complex;IDA|GO:0030863;cortical cytoskeleton;IEA|GO:0031012;extracellular matrix;IDA|GO:0031252;cell leading edge;IDA|GO:0031594;neuromuscular junction;IEA|GO:0032154;cleavage furrow;IDA|GO:0042641;actomyosin;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0097513;myosin II filament;IDA	GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003774;motor activity;NAS|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0019904;protein domain specific binding;IPI|GO:0030898;actin-dependent ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043495;protein anchor;IMP|GO:0043531;ADP binding;IDA|GO:0045296;cadherin binding;IDA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYH9	https://www.uniprot.org/uniprot/P35579	https://hpo.jax.org/app/browse/search?q=MYH9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=160775	http://www.informatics.jax.org/searchtool/Search.do?query=MYH9&submit=Quick%0D%2486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH9	rs3752463	0.358227	0	0	1	0	0	intronic	intronic	intronic	MYH9	MYH9	ENSG00000100345	Na	Na	Na	Na	Na	Na	Het;G>A	1143;2|30	Hom;G>A	1640;0|38
N	N	-	22	37267767	37267767	A	G	snp	intronic	 	 	 	 	NCF4	Ncf4	ENSG00000275990	neutrophil cytosolic factor 4	chr22:37257030-37274057	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Meningeal Neoplasms|meningioma; Dermatitis, Atopic; sarcoidosis tuberculosis; Brain Neoplasms|Occupational Diseases; Crohn Disease|Ileal Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative|Crohn Disease|; breast cancer ; Inflammatory Bowel Diseases; Lymphoma, Non-Hodgkin; HIV; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10.	RHO GTPases Activate NADPH Oxidases	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006955;immune response;TAS|GO:0016192;vesicle-mediated transport;IBA|GO:0034599;cellular response to oxidative stress;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045454;cell redox homeostasis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IDA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;IDA	GO:0005086;ARF guanyl-nucleotide exchange factor activity;IBA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0016176;superoxide-generating NADPH oxidase activator activity;IMP|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA|GO:0046983;protein dimerization activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCF4	https://www.uniprot.org/uniprot/Q15080	https://hpo.jax.org/app/browse/search?q=NCF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601488	http://www.informatics.jax.org/searchtool/Search.do?query=NCF4&submit=Quick%0D%21497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF4	rs2072708	0.626997	0.6328	0.7033	1	0	0	intronic	intronic	intronic	NCF4	NCF4	ENSG00000100365	Na	Na	Na	Na	Na	Na	Het;A>G	1394;78|65	Hom;A>G	3294;0|119
N	N	-	22	37267943	37267943	C	A	snp	intronic	 	 	 	 	NCF4	Ncf4	ENSG00000275990	neutrophil cytosolic factor 4	chr22:37257030-37274057	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Meningeal Neoplasms|meningioma; Dermatitis, Atopic; sarcoidosis tuberculosis; Brain Neoplasms|Occupational Diseases; Crohn Disease|Ileal Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative|Crohn Disease|; breast cancer ; Inflammatory Bowel Diseases; Lymphoma, Non-Hodgkin; HIV; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10.	RHO GTPases Activate NADPH Oxidases	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006955;immune response;TAS|GO:0016192;vesicle-mediated transport;IBA|GO:0034599;cellular response to oxidative stress;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045454;cell redox homeostasis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IDA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;IDA	GO:0005086;ARF guanyl-nucleotide exchange factor activity;IBA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0016176;superoxide-generating NADPH oxidase activator activity;IMP|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA|GO:0046983;protein dimerization activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCF4	https://www.uniprot.org/uniprot/Q15080	https://hpo.jax.org/app/browse/search?q=NCF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601488	http://www.informatics.jax.org/searchtool/Search.do?query=NCF4&submit=Quick%0D%21497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF4	rs2072709	0.703674	0	0	1	0	0	intronic	intronic	intronic	NCF4	NCF4	ENSG00000100365	Na	Na	Na	Na	Na	Na	Het;C>A	132;3|5	Hom;C>A	200;0|7
N	N	-	22	37268501	37268501	A	G	snp	intronic	 	 	 	 	NCF4	Ncf4	ENSG00000275990	neutrophil cytosolic factor 4	chr22:37257030-37274057	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Meningeal Neoplasms|meningioma; Dermatitis, Atopic; sarcoidosis tuberculosis; Brain Neoplasms|Occupational Diseases; Crohn Disease|Ileal Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative|Crohn Disease|; breast cancer ; Inflammatory Bowel Diseases; Lymphoma, Non-Hodgkin; HIV; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10.	RHO GTPases Activate NADPH Oxidases	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006955;immune response;TAS|GO:0016192;vesicle-mediated transport;IBA|GO:0034599;cellular response to oxidative stress;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045454;cell redox homeostasis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IDA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;IDA	GO:0005086;ARF guanyl-nucleotide exchange factor activity;IBA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0016176;superoxide-generating NADPH oxidase activator activity;IMP|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA|GO:0046983;protein dimerization activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCF4	https://www.uniprot.org/uniprot/Q15080	https://hpo.jax.org/app/browse/search?q=NCF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601488	http://www.informatics.jax.org/searchtool/Search.do?query=NCF4&submit=Quick%0D%21497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF4	rs2072710	0.629593	0.6326	0.7192	1	0	0	intronic	intronic	intronic	NCF4	NCF4	ENSG00000100365	Na	Na	Na	Na	Na	Na	Het;A>G	361;24|17	Hom;A>G	816;0|27
N	N	-	22	37268555	37268555	A	G	snp	intronic	 	 	 	 	NCF4	Ncf4	ENSG00000275990	neutrophil cytosolic factor 4	chr22:37257030-37274057	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Meningeal Neoplasms|meningioma; Dermatitis, Atopic; sarcoidosis tuberculosis; Brain Neoplasms|Occupational Diseases; Crohn Disease|Ileal Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative|Crohn Disease|; breast cancer ; Inflammatory Bowel Diseases; Lymphoma, Non-Hodgkin; HIV; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10.	RHO GTPases Activate NADPH Oxidases	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006955;immune response;TAS|GO:0016192;vesicle-mediated transport;IBA|GO:0034599;cellular response to oxidative stress;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045454;cell redox homeostasis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IDA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;IDA	GO:0005086;ARF guanyl-nucleotide exchange factor activity;IBA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0016176;superoxide-generating NADPH oxidase activator activity;IMP|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA|GO:0046983;protein dimerization activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCF4	https://www.uniprot.org/uniprot/Q15080	https://hpo.jax.org/app/browse/search?q=NCF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601488	http://www.informatics.jax.org/searchtool/Search.do?query=NCF4&submit=Quick%0D%21497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF4	rs2072711	0.828474	0	0	1	0	0	intronic	intronic	intronic	NCF4	NCF4	ENSG00000100365	Na	Na	Na	Na	Na	Na	Het;A>G	35;5|2	Hom;A>G	220;0|7
N	N	-	22	37271882	37271882	T	C	snp	nonsynonymous SNV	T815C	L272P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	NCF4	Ncf4	ENSG00000275990	neutrophil cytosolic factor 4	chr22:37257030-37274057	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Meningeal Neoplasms|meningioma; Dermatitis, Atopic; sarcoidosis tuberculosis; Brain Neoplasms|Occupational Diseases; Crohn Disease|Ileal Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative|Crohn Disease|; breast cancer ; Inflammatory Bowel Diseases; Lymphoma, Non-Hodgkin; HIV; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10.	RHO GTPases Activate NADPH Oxidases	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006955;immune response;TAS|GO:0016192;vesicle-mediated transport;IBA|GO:0034599;cellular response to oxidative stress;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045454;cell redox homeostasis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;TAS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IDA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;IDA	GO:0005086;ARF guanyl-nucleotide exchange factor activity;IBA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0016176;superoxide-generating NADPH oxidase activator activity;IMP|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA|GO:0046983;protein dimerization activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCF4	https://www.uniprot.org/uniprot/Q15080	https://hpo.jax.org/app/browse/search?q=NCF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601488	http://www.informatics.jax.org/searchtool/Search.do?query=NCF4&submit=Quick%0D%21497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF4	rs2075939	0.828075	0.8701	0.8337	0.17	2	12	exonic	exonic	exonic	NCF4	NCF4	ENSG00000100365	nonsynonymous SNV	nonsynonymous SNV	unknown	NCF4:NM_013416:exon8:c.T815C:p.L272P,	NCF4:uc003apz.4:exon8:c.T815C:p.L272P,	UNKNOWN	Het;T>C	3103;247|156	Hom;T>C	10607;1|379
N	N	-	22	37480269	37480269	A	G	snp	nonsynonymous SNV	T1262C	I421T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	TMPRSS6	Tmprss6	ENSG00000187045	transmembrane protease, serine 6	chr22:37461476-37505603	The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Parkinson Disease; Iron; Peripheral Vascular Diseases; Erythrocyte Indices; null; serum markers of iron status; Abortion, Spontaneous; hemoglobin levels; serum iron concentration; breast cancer; hemoglobin; hematocrit; hematological parameters; mean corpuscular volume; Hypertension; mean corpuscular hemoglobin; iron status and erythrocyte volume; Transferrin; Hematocrit; Hemoglobin A, Glycosylated; Iron-Regulatory Proteins; Iron Deficiency, Inherited; Hemoglobins	Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation.	Degradation of the extracellular matrix	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0001525;angiogenesis;NAS|GO:0006508;proteolysis;IDA|GO:0006879;cellular iron ion homeostasis;ISS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;NAS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030574;collagen catabolic process;TAS|GO:0033619;membrane protein proteolysis;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042730;fibrinolysis;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0055072;iron ion homeostasis;IMP|GO:0097264;self proteolysis;IMP	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS6		https://hpo.jax.org/app/browse/search?q=TMPRSS6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609862	http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS6&submit=Quick%0D%15765ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS6	rs2543519	0.247604	0	0.3367	0.11	1	9	intronic	exonic	exonic	TMPRSS6	TMPRSS6	ENSG00000187045	Na	nonsynonymous SNV	unknown	Na	TMPRSS6:uc003aqu.3:exon10:c.T1262C:p.I421T,	UNKNOWN	Het;A>G	80;6|5	Hom;A>G	389;0|12
N	N	-	22	37678551	37678551	A	G	snp	UTR5	-60A>G	 	 	 	CYTH4	Cyth4	ENSG00000100055	cytohesin 4	chr22:37678068-37711382	This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder	 	Intra-Golgi traffic	GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0000139;Golgi membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYTH4	https://www.uniprot.org/uniprot/Q9UIA0		https://www.ncbi.nlm.nih.gov/omim/?term=606514	http://www.informatics.jax.org/searchtool/Search.do?query=CYTH4&submit=Quick%0D%2389ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYTH4	rs3213556	0.691893	0.7913	0.6962	1	0	0	UTR5	UTR5	UTR5	CYTH4(NM_013385:c.-60A>G)	CYTH4(uc003ard.4:c.-60A>G,uc003are.2:c.-60A>G,uc003arf.3:c.-60A>G,uc011amw.2:c.-13493A>G)	ENSG00000100055(ENST00000457992:c.-60A>G,ENST00000248901:c.-60A>G,ENST00000402997:c.-60A>G,ENST00000405206:c.-60A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1025;36|43	Hom;A>G	2225;2|77
N	N	-	22	37678565	37678565	G	A	snp	UTR5	-46G>A	 	 	 	CYTH4	Cyth4	ENSG00000100055	cytohesin 4	chr22:37678068-37711382	This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder	 	Intra-Golgi traffic	GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0000139;Golgi membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYTH4	https://www.uniprot.org/uniprot/Q9UIA0		https://www.ncbi.nlm.nih.gov/omim/?term=606514	http://www.informatics.jax.org/searchtool/Search.do?query=CYTH4&submit=Quick%0D%2389ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYTH4	rs3213557	0.329073	0.4581	0.4389	1	0	0	UTR5	UTR5	UTR5	CYTH4(NM_013385:c.-46G>A)	CYTH4(uc003ard.4:c.-46G>A,uc003are.2:c.-46G>A,uc003arf.3:c.-46G>A,uc011amw.2:c.-13479G>A)	ENSG00000100055(ENST00000457992:c.-46G>A,ENST00000248901:c.-46G>A,ENST00000402997:c.-46G>A,ENST00000405206:c.-46G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	991;46|47	Hom;G>A	2396;3|92
N	N	-	22	37750293	37750293	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100506271																		rs4820283	0.269369	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506271	AK097787	ENSG00000237862	Na	Na	Na	Na	Na	Na	Het;C>T	1339;81|65	Hom;C>T	4123;2|146
N	N	-	22	37750347	37750347	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100506271																		rs4821636	0.275958	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506271	AK097787	ENSG00000237862	Na	Na	Na	Na	Na	Na	Het;T>C	1556;43|44	Hom;T>C	4274;0|96
N	N	-	22	37750349	37750349	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100506271																		rs2899289	0.626797	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506271	AK097787	ENSG00000237862	Na	Na	Na	Na	Na	Na	Het;T>C	1556;43|44	Hom;T>C	4274;0|93
N	N	-	22	38119754	38119757	TCAA	T	indel	nonframeshift substitution	1191_1194T	 	 	 	TRIOBP	Triobp	ENSG00000100106	TRIO and F-actin binding protein	chr22:38093011-38172563	This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]	Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration.		GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA	GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP	https://www.uniprot.org/uniprot/Q9H2D6	https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609761	http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP	rs55745992	0.336262	0.3532	0.3917	1	0	0	exonic	exonic	exonic	TRIOBP	TRIOBP	ENSG00000100106	nonframeshift substitution	nonframeshift substitution	unknown	TRIOBP:NM_001039141:exon7:c.1191_1194T,	TRIOBP:uc003atr.3:exon7:c.1191_1194T,TRIOBP:uc003ats.1:exon5:c.675_678T,TRIOBP:uc003atu.3:exon5:c.675_678T,TRIOBP:uc003atq.1:exon13:c.1191_1194T,	UNKNOWN	Het;-CAA	572;29|19	Hom;-CAA	2511;0|60
N	N	-	22	38121152	38121152	C	A	snp	nonsynonymous SNV	C2589A	N863K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	TRIOBP	Triobp	ENSG00000100106	TRIO and F-actin binding protein	chr22:38093011-38172563	This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]	Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration.		GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA	GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP	https://www.uniprot.org/uniprot/Q9H2D6	https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609761	http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP	rs9610841	0.336262	0.3464	0.3925	0.25	3	12	exonic	exonic	exonic	TRIOBP	TRIOBP	ENSG00000100106	nonsynonymous SNV	nonsynonymous SNV	unknown	TRIOBP:NM_001039141:exon7:c.C2589A:p.N863K,	TRIOBP:uc003atr.3:exon7:c.C2589A:p.N863K,TRIOBP:uc003ats.1:exon5:c.C2073A:p.N691K,TRIOBP:uc003atu.3:exon5:c.C2073A:p.N691K,TRIOBP:uc003atq.1:exon13:c.C2589A:p.N863K,	UNKNOWN	Het;C>A	1853;126|92	Hom;C>A	6692;2|245
N	N	-	22	38122122	38122122	T	C	snp	nonsynonymous SNV	T3559C	F1187L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRIOBP	Triobp	ENSG00000100106	TRIO and F-actin binding protein	chr22:38093011-38172563	This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]	Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration.		GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA	GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP	https://www.uniprot.org/uniprot/Q9H2D6	https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609761	http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP	rs5756795	0.336661	0.3501	0.3934	0.17	2	12	exonic	exonic	exonic	TRIOBP	TRIOBP	ENSG00000100106	nonsynonymous SNV	nonsynonymous SNV	unknown	TRIOBP:NM_001039141:exon7:c.T3559C:p.F1187L,	TRIOBP:uc003atr.3:exon7:c.T3559C:p.F1187L,TRIOBP:uc003ats.1:exon5:c.T3043C:p.F1015L,TRIOBP:uc003atu.3:exon5:c.T3043C:p.F1015L,TRIOBP:uc003atq.1:exon13:c.T3559C:p.F1187L,	UNKNOWN	Het;T>C	2011;78|90	Hom;T>C	4317;2|157
N	N	-	22	38122448	38122448	C	T	snp	synonymous SNV	C3885T	S1295S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TRIOBP	Triobp	ENSG00000100106	TRIO and F-actin binding protein	chr22:38093011-38172563	This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]	Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration.		GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA	GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP	https://www.uniprot.org/uniprot/Q9H2D6	https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609761	http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP	rs739137	0.336661	0.3419	0.4421	1	0	0	exonic	exonic	exonic	TRIOBP	TRIOBP	ENSG00000100106	synonymous SNV	synonymous SNV	unknown	TRIOBP:NM_001039141:exon7:c.C3885T:p.S1295S,	TRIOBP:uc003atr.3:exon7:c.C3885T:p.S1295S,TRIOBP:uc003ats.1:exon5:c.C3369T:p.S1123S,TRIOBP:uc003atu.3:exon5:c.C3369T:p.S1123S,TRIOBP:uc003atq.1:exon13:c.C3885T:p.S1295S,	UNKNOWN	Het;C>T	1381;27|40	Hom;C>T	2032;1|76
N	N	-	22	38122462	38122462	A	G	snp	nonsynonymous SNV	A3899G	H1300R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TRIOBP	Triobp	ENSG00000100106	TRIO and F-actin binding protein	chr22:38093011-38172563	This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]	Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration.		GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA	GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP	https://www.uniprot.org/uniprot/Q9H2D6	https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609761	http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP	rs739138	0.601038	0.6310	0.7412	0.17	2	12	exonic	exonic	exonic	TRIOBP	TRIOBP	ENSG00000100106	nonsynonymous SNV	nonsynonymous SNV	unknown	TRIOBP:NM_001039141:exon7:c.A3899G:p.H1300R,	TRIOBP:uc003atr.3:exon7:c.A3899G:p.H1300R,TRIOBP:uc003ats.1:exon5:c.A3383G:p.H1128R,TRIOBP:uc003atu.3:exon5:c.A3383G:p.H1128R,TRIOBP:uc003atq.1:exon13:c.A3899G:p.H1300R,	UNKNOWN	Het;A>G	1268;23|30	Hom;A>G	1318;1|46
N	N	-	22	38129332	38129332	G	A	snp	synonymous SNV	G3975A	Q1325Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TRIOBP	Triobp	ENSG00000100106	TRIO and F-actin binding protein	chr22:38093011-38172563	This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]	Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity	Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration.		GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA	GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP	https://www.uniprot.org/uniprot/Q9H2D6	https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609761	http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP	rs7284476	0.33726	0.3503	0.3898	1	0	0	exonic	exonic	exonic	TRIOBP	TRIOBP	ENSG00000100106	synonymous SNV	synonymous SNV	unknown	TRIOBP:NM_001039141:exon8:c.G3975A:p.Q1325Q,	TRIOBP:uc003atr.3:exon8:c.G3975A:p.Q1325Q,TRIOBP:uc003atu.3:exon6:c.G3459A:p.Q1153Q,	UNKNOWN	Het;G>A	798;47|42	Hom;G>A	1875;2|70
N	N	-	22	38204089	38204089	C	T	snp	nonsynonymous SNV	C115T	R39C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	GCAT	Gcat	ENSG00000100116	glycine C-acetyltransferase	chr22:38203912-38213183	The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit no gross abnormalities.	Threonine catabolism	GO:0006520;cellular amino acid metabolic process;NAS|GO:0006567;threonine catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019518;L-threonine catabolic process to glycine;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016607;nuclear speck;IDA	GO:0003824;catalytic activity;IEA|GO:0008890;glycine C-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCAT	https://www.uniprot.org/uniprot/O75600		https://www.ncbi.nlm.nih.gov/omim/?term=607422	http://www.informatics.jax.org/searchtool/Search.do?query=GCAT&submit=Quick%0D%2410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCAT	rs710187	0.597045	0.5688	0.6307	0.62	8	13	exonic	exonic	exonic	GCAT	GCAT	ENSG00000100116	nonsynonymous SNV	nonsynonymous SNV	unknown	GCAT:NM_014291:exon1:c.C115T:p.R39C,GCAT:NM_001171690:exon1:c.C115T:p.R39C,	GCAT:uc003atz.3:exon1:c.C115T:p.R39C,GCAT:uc003aua.2:exon1:c.C115T:p.R39C,	UNKNOWN	Het;C>T	675;16|32	Hom;C>T	1424;0|55
N	N	-	22	38211954	38211954	G	A	snp	intronic	 	 	 	 	GCAT	Gcat	ENSG00000100116	glycine C-acetyltransferase	chr22:38203912-38213183	The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit no gross abnormalities.	Threonine catabolism	GO:0006520;cellular amino acid metabolic process;NAS|GO:0006567;threonine catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019518;L-threonine catabolic process to glycine;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016607;nuclear speck;IDA	GO:0003824;catalytic activity;IEA|GO:0008890;glycine C-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCAT	https://www.uniprot.org/uniprot/O75600		https://www.ncbi.nlm.nih.gov/omim/?term=607422	http://www.informatics.jax.org/searchtool/Search.do?query=GCAT&submit=Quick%0D%2410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCAT	rs2285179	0.612819	0	0	1	0	0	intronic	intronic	intronic	GCAT	GCAT	ENSG00000100116	Na	Na	Na	Na	Na	Na	Het;G>A	206;16|9	Hom;G>A	639;0|23
N	N	-	22	38212068	38212068	C	T	snp	intronic	 	 	 	 	GCAT	Gcat	ENSG00000100116	glycine C-acetyltransferase	chr22:38203912-38213183	The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit no gross abnormalities.	Threonine catabolism	GO:0006520;cellular amino acid metabolic process;NAS|GO:0006567;threonine catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019518;L-threonine catabolic process to glycine;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016607;nuclear speck;IDA	GO:0003824;catalytic activity;IEA|GO:0008890;glycine C-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCAT	https://www.uniprot.org/uniprot/O75600		https://www.ncbi.nlm.nih.gov/omim/?term=607422	http://www.informatics.jax.org/searchtool/Search.do?query=GCAT&submit=Quick%0D%2410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCAT	rs739269	0.782947	0	0	1	0	0	intronic	intronic	intronic	GCAT	GCAT	ENSG00000100116	Na	Na	Na	Na	Na	Na	Het;C>T	119;6|7	Hom;C>T	291;0|10
N	N	-	22	38212762	38212762	A	G	snp	UTR3	*37A>G	 	 	 	GCAT	Gcat	ENSG00000100116	glycine C-acetyltransferase	chr22:38203912-38213183	The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit no gross abnormalities.	Threonine catabolism	GO:0006520;cellular amino acid metabolic process;NAS|GO:0006567;threonine catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019518;L-threonine catabolic process to glycine;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016607;nuclear speck;IDA	GO:0003824;catalytic activity;IEA|GO:0008890;glycine C-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCAT	https://www.uniprot.org/uniprot/O75600		https://www.ncbi.nlm.nih.gov/omim/?term=607422	http://www.informatics.jax.org/searchtool/Search.do?query=GCAT&submit=Quick%0D%2410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCAT	rs13911	0.753794	0.7042	0.6849	1	0	0	UTR3	UTR3	UTR3	GCAT(NM_014291:c.*37A>G)	GCAT(uc003atz.3:c.*37A>G)	ENSG00000100116(ENST00000248924:c.*37A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	722;46|32	Hom;A>G	2876;2|109
N	N	-	22	38220964	38220964	T	C	snp	synonymous SNV	T594C	A198A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GALR3	Galr3	ENSG00000128310	galanin receptor 3	chr22:38219389-38221502	The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior.  The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways.  GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]	alcoholism; Narcolepsy; several psychiatric disorders; Psychiatric Disorders	Mice homozygous for a null allele exhibit increased anxiety-like behavior and abnormal social investigation.	G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA|GO:0007194;negative regulation of adenylate cyclase activity;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IBA|GO:0007218;neuropeptide signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007611;learning or memory;TAS|GO:0007631;feeding behavior;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004966;galanin receptor activity;TAS|GO:0017046;peptide hormone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GALR3	https://www.uniprot.org/uniprot/O60755		https://www.ncbi.nlm.nih.gov/omim/?term=603692	http://www.informatics.jax.org/searchtool/Search.do?query=GALR3&submit=Quick%0D%6125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALR3	rs8138029	0.783746	0.7716	0.7250	1	0	0	exonic	exonic	exonic	GALR3	GALR3	ENSG00000128310	synonymous SNV	synonymous SNV	unknown	GALR3:NM_003614:exon2:c.T594C:p.A198A,	GALR3:uc003aub.1:exon2:c.T594C:p.A198A,	UNKNOWN	Het;T>C	134;4|8	Hom;T>C	71;0|4
N	N	-	22	38243675	38243675	A	T	snp	downstream	 	 	 	 	MIR659																		rs5750504	0.638578	0.5727	0.6124	1	0	0	downstream	downstream	intronic	MIR659	MIR659	ENSG00000100124	Na	Na	Na	Na	Na	Na	Het;A>T	412;39|23	Hom;A>T	723;0|29
N	N	-	22	38251686	38251686	T	C	snp	intronic	 	 	 	 	EIF3L	Eif3l	ENSG00000100129	eukaryotic translation initiation factor 3 subunit L	chr22:38244875-38285414		Monocytes	 	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0075525;viral translational termination-reinitiation;IDA	GO:0001650;fibrillar center;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016020;membrane;IDA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0033290;eukaryotic 48S preinitiation complex;IEA	GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3L	https://www.uniprot.org/uniprot/Q9Y262			http://www.informatics.jax.org/searchtool/Search.do?query=EIF3L&submit=Quick%0D%2414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3L	rs2157472	0.791134	0.7392	0.6989	1	0	0	intronic	intronic	intronic	EIF3L	EIF3L	ENSG00000100129	Na	Na	Na	Na	Na	Na	Het;T>C	251;16|14	Hom;T>C	607;0|24
N	N	-	22	38341134	38341134	T	C	snp	synonymous SNV	A396G	T132T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C22orf23	1700088E04Rik	ENSG00000128346	chromosome 22 open reading frame 23	chr22:38339528-38349676			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C22orf23	https://www.uniprot.org/uniprot/Q9BZE7			http://www.informatics.jax.org/searchtool/Search.do?query=C22orf23&submit=Quick%0D%6132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf23	rs139859	0.78135	0.7474	0.6933	1	0	0	exonic	exonic	exonic	C22orf23	C22orf23	ENSG00000128346	synonymous SNV	synonymous SNV	unknown	C22orf23:NM_001207062:exon4:c.A333G:p.T111T,C22orf23:NM_032561:exon5:c.A396G:p.T132T,	C22orf23:uc003auj.2:exon5:c.A396G:p.T132T,C22orf23:uc021wpl.1:exon4:c.A333G:p.T111T,	UNKNOWN	Het;T>C	663;31|34	Hom;T>C	1133;0|40
N	N	-	22	38364552	38364552	T	C	snp	UTR3	*830T>C	 	 	 	POLR2F	Polr2f	ENSG00000100142	RNA polymerase II subunit F	chr22:38348614-38437922	This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	bladder cancer	 	Signaling by FGFR2 IIIa TM	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;TAS|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006383;transcription from RNA polymerase III promoter;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016070;RNA metabolic process;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005665;DNA-directed RNA polymerase II, core complex;IDA|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005736;DNA-directed RNA polymerase I complex;IBA|GO:0005829;cytosol;TAS	GO:0001054;RNA polymerase I activity;IBA|GO:0001055;RNA polymerase II activity;IBA|GO:0001056;RNA polymerase III activity;IBA|GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR2F	https://www.uniprot.org/uniprot/P61218		https://www.ncbi.nlm.nih.gov/omim/?term=604414	http://www.informatics.jax.org/searchtool/Search.do?query=POLR2F&submit=Quick%0D%2417ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2F	rs139879	0.711462	0	0	1	0	0	UTR3	UTR3	UTR3	POLR2F(NM_021974:c.*830T>C,NM_001301129:c.*830T>C)	POLR2F(uc010gxi.3:c.*1249T>C,uc003aul.3:c.*830T>C)	ENSG00000100142(ENST00000442738:c.*830T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1258;33|51	Hom;T>C	2470;0|87
N	N	-	22	38369027	38369027	C	T	snp	UTR3	*475G>A	 	 	 	SOX10	Sox10	ENSG00000100146	SRY-box 10	chr22:38366693-38383429	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]	schizophrenia; Chronic renal failure|Kidney Failure, Chronic; Myelin deficiencies; Hirschsprung's disease; Melanoma|Neoplasm Metastasis|Skin Neoplasms; Melanoma|Skin Neoplasms; Monocytes; Hip	Homozygotes for null mutations lack peripheral glial cells, melanocytes, and autonomic and enteric neurons, and die neonatally or sooner. Heterozygotes exhibit white spotting and megacolon.		GO:0001701;in utero embryonic development;IEA|GO:0001755;neural crest cell migration;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007422;peripheral nervous system development;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0014015;positive regulation of gliogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0032808;lacrimal gland development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048469;cell maturation;IEA|GO:0048484;enteric nervous system development;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048589;developmental growth;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048863;stem cell differentiation;IEA|GO:0061138;morphogenesis of a branching epithelium;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0031315;extrinsic component of mitochondrial outer membrane;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0042802;identical protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOX10	https://www.uniprot.org/uniprot/P56693	https://hpo.jax.org/app/browse/search?q=SOX10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602229	http://www.informatics.jax.org/searchtool/Search.do?query=SOX10&submit=Quick%0D%2418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX10	rs139883	0.608427	0	0	1	0	0	UTR3	UTR3	UTR3	SOX10(NM_006941:c.*475G>A)	SOX10(uc003aun.1:c.*475G>A,uc003auo.1:c.*475G>A)	ENSG00000100146(ENST00000360880:c.*475G>A,ENST00000396884:c.*475G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	2413;64|113	Hom;C>T	4324;0|160
N	N	-	22	38369976	38369976	A	G	snp	synonymous SNV	T927C	H309H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	SOX10	Sox10	ENSG00000100146	SRY-box 10	chr22:38366693-38383429	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]	schizophrenia; Chronic renal failure|Kidney Failure, Chronic; Myelin deficiencies; Hirschsprung's disease; Melanoma|Neoplasm Metastasis|Skin Neoplasms; Melanoma|Skin Neoplasms; Monocytes; Hip	Homozygotes for null mutations lack peripheral glial cells, melanocytes, and autonomic and enteric neurons, and die neonatally or sooner. Heterozygotes exhibit white spotting and megacolon.		GO:0001701;in utero embryonic development;IEA|GO:0001755;neural crest cell migration;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007422;peripheral nervous system development;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0014015;positive regulation of gliogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0032808;lacrimal gland development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048469;cell maturation;IEA|GO:0048484;enteric nervous system development;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048589;developmental growth;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048863;stem cell differentiation;IEA|GO:0061138;morphogenesis of a branching epithelium;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0031315;extrinsic component of mitochondrial outer membrane;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0042802;identical protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOX10	https://www.uniprot.org/uniprot/P56693	https://hpo.jax.org/app/browse/search?q=SOX10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602229	http://www.informatics.jax.org/searchtool/Search.do?query=SOX10&submit=Quick%0D%2418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX10	rs139884	0.713259	0.6958	0.6537	1	0	0	exonic	exonic	exonic	SOX10	SOX10	ENSG00000100146	synonymous SNV	synonymous SNV	unknown	SOX10:NM_006941:exon4:c.T927C:p.H309H,	SOX10:uc003aun.1:exon4:c.T927C:p.H309H,SOX10:uc003auo.1:exon5:c.T927C:p.H309H,	UNKNOWN	Het;A>G	1025;66|48	Hom;A>G	2527;0|91
N	N	-	22	38463652	38463652	T	G	snp	ncRNA_intronic	 	 	 	 	AL031587.2																		rs2076369	0.72524	0.7107	0	1	0	0	intronic	intronic	ncRNA_intronic	PICK1	PICK1	ENSG00000233739	Na	Na	Na	Na	Na	Na	Het;T>G	269;14|13	Hom;T>G	562;2|24
N	N	-	22	38467784	38467784	G	C	snp	ncRNA_intronic	 	 	 	 	AL031587.2																		rs760975	0.722045	0.6884	0.6602	1	0	0	intronic	intronic	ncRNA_intronic	PICK1	PICK1	ENSG00000233739	Na	Na	Na	Na	Na	Na	Het;G>C	1457;52|66	Hom;G>C	2643;0|95
N	N	-	22	38474696	38474696	A	G	snp	nonsynonymous SNV	T1214C	V405A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC16A8	Slc16a8	ENSG00000100156	solute carrier family 16 member 8	chr22:38474141-38480100	SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]	Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit reduced visual function, putatively due to changes in the ionic composition of the outer retina.	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0015727;lactate transport;TAS|GO:0035873;lactate transmembrane transport;IEA|GO:0050900;leukocyte migration;TAS|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;EXP|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A8	https://www.uniprot.org/uniprot/O95907		https://www.ncbi.nlm.nih.gov/omim/?term=610409	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A8&submit=Quick%0D%2422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A8	rs2076371	0.810703	0.7953	0.7554	0.15	2	13	exonic	exonic	exonic	SLC16A8	SLC16A8	ENSG00000100156	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC16A8:NM_013356:exon5:c.T1214C:p.V405A,	SLC16A8:uc003auu.3:exon5:c.T1214C:p.V405A,	UNKNOWN	Het;A>G	323;18|14	Hom;A>G	1185;0|42
N	N	-	22	38476172	38476172	T	C	snp	intronic	 	 	 	 	SLC16A8	Slc16a8	ENSG00000100156	solute carrier family 16 member 8	chr22:38474141-38480100	SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]	Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit reduced visual function, putatively due to changes in the ionic composition of the outer retina.	Pyruvate metabolism	GO:0006090;pyruvate metabolic process;TAS|GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0015727;lactate transport;TAS|GO:0035873;lactate transmembrane transport;IEA|GO:0050900;leukocyte migration;TAS|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;EXP|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC16A8	https://www.uniprot.org/uniprot/O95907		https://www.ncbi.nlm.nih.gov/omim/?term=610409	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A8&submit=Quick%0D%2422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A8	rs79751681	0.0856629	0	0	1	0	0	intronic	intronic	intronic	SLC16A8	SLC16A8	ENSG00000100156	Na	Na	Na	Na	Na	Na	Het;T>C	33;4|2	Hom;T>C	105;0|4
N	N	-	22	38481516	38481516	G	A	snp	intronic	 	 	 	 	BAIAP2L2	Baiap2l2	ENSG00000128298	BAI1 associated protein 2 like 2	chr22:38480896-38506677	The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]		 		GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0061024;membrane organization;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IBA	GO:0005829;cytosol;IBA|GO:0005886;plasma membrane;IEA|GO:0012506;vesicle membrane;IDA|GO:0015629;actin cytoskeleton;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0071439;clathrin complex;IDA	GO:0005543;phospholipid binding;ISS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L2	https://www.uniprot.org/uniprot/Q6UXY1		https://www.ncbi.nlm.nih.gov/omim/?term=617536	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L2&submit=Quick%0D%6123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L2	rs9610902	0.364018	0	0	1	0	0	intronic	intronic	intronic	BAIAP2L2	BAIAP2L2	ENSG00000128298	Na	Na	Na	Na	Na	Na	Het;G>A	196;15|9	Hom;G>A	627;0|20
N	N	-	22	38485064	38485064	C	G	snp	intronic	 	 	 	 	BAIAP2L2	Baiap2l2	ENSG00000128298	BAI1 associated protein 2 like 2	chr22:38480896-38506677	The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]		 		GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0061024;membrane organization;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IBA	GO:0005829;cytosol;IBA|GO:0005886;plasma membrane;IEA|GO:0012506;vesicle membrane;IDA|GO:0015629;actin cytoskeleton;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0071439;clathrin complex;IDA	GO:0005543;phospholipid binding;ISS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L2	https://www.uniprot.org/uniprot/Q6UXY1		https://www.ncbi.nlm.nih.gov/omim/?term=617536	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L2&submit=Quick%0D%6123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L2	rs62235125	0.359026	0	0.4562	1	0	0	intronic	intronic	intronic	BAIAP2L2	BAIAP2L2	ENSG00000128298	Na	Na	Na	Na	Na	Na	Het;C>G	299;12|14	Hom;C>G	937;0|34
N	N	-	22	38485540	38485540	A	G	snp	nonsynonymous SNV	T754C	C252R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	BAIAP2L2	Baiap2l2	ENSG00000128298	BAI1 associated protein 2 like 2	chr22:38480896-38506677	The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]		 		GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0061024;membrane organization;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IBA	GO:0005829;cytosol;IBA|GO:0005886;plasma membrane;IEA|GO:0012506;vesicle membrane;IDA|GO:0015629;actin cytoskeleton;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0071439;clathrin complex;IDA	GO:0005543;phospholipid binding;ISS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L2	https://www.uniprot.org/uniprot/Q6UXY1		https://www.ncbi.nlm.nih.gov/omim/?term=617536	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L2&submit=Quick%0D%6123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L2	rs17856487	0.390775	0	1	0.08	1	12	exonic	exonic	exonic	BAIAP2L2	BAIAP2L2	ENSG00000128298	nonsynonymous SNV	nonsynonymous SNV	unknown	BAIAP2L2:NM_025045:exon8:c.T754C:p.C252R,	BAIAP2L2:uc003auw.3:exon8:c.T754C:p.C252R,	UNKNOWN	Het;A>G	109;5|6	Hom;A>G	156;0|7
N	N	-	22	38505347	38505347	G	A	snp	intronic	 	 	 	 	BAIAP2L2	Baiap2l2	ENSG00000128298	BAI1 associated protein 2 like 2	chr22:38480896-38506677	The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]		 		GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0061024;membrane organization;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IBA	GO:0005829;cytosol;IBA|GO:0005886;plasma membrane;IEA|GO:0012506;vesicle membrane;IDA|GO:0015629;actin cytoskeleton;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0071439;clathrin complex;IDA	GO:0005543;phospholipid binding;ISS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L2	https://www.uniprot.org/uniprot/Q6UXY1		https://www.ncbi.nlm.nih.gov/omim/?term=617536	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L2&submit=Quick%0D%6123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L2	rs6001008	0.533746	0	0	1	0	0	intronic	intronic	intronic	BAIAP2L2	BAIAP2L2	ENSG00000128298	Na	Na	Na	Na	Na	Na	Het;G>A	230;4|7	Hom;G>A	350;0|9
N	N	-	22	38505356	38505356	A	G	snp	intronic	 	 	 	 	BAIAP2L2	Baiap2l2	ENSG00000128298	BAI1 associated protein 2 like 2	chr22:38480896-38506677	The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]		 		GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0061024;membrane organization;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IBA	GO:0005829;cytosol;IBA|GO:0005886;plasma membrane;IEA|GO:0012506;vesicle membrane;IDA|GO:0015629;actin cytoskeleton;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0071439;clathrin complex;IDA	GO:0005543;phospholipid binding;ISS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L2	https://www.uniprot.org/uniprot/Q6UXY1		https://www.ncbi.nlm.nih.gov/omim/?term=617536	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L2&submit=Quick%0D%6123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L2	rs6001009	0.53734	0	0	1	0	0	intronic	intronic	intronic	BAIAP2L2	BAIAP2L2	ENSG00000128298	Na	Na	Na	Na	Na	Na	Het;A>G	158;6|5	Hom;A>G	280;0|6
N	N	-	22	38506688	38506688	T	C	snp	upstream;downstream	 	 	 	 	BAIAP2L2	Baiap2l2	ENSG00000128298	BAI1 associated protein 2 like 2	chr22:38480896-38506677	The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]		 		GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0061024;membrane organization;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IBA	GO:0005829;cytosol;IBA|GO:0005886;plasma membrane;IEA|GO:0012506;vesicle membrane;IDA|GO:0015629;actin cytoskeleton;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0071439;clathrin complex;IDA	GO:0005543;phospholipid binding;ISS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L2	https://www.uniprot.org/uniprot/Q6UXY1		https://www.ncbi.nlm.nih.gov/omim/?term=617536	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L2&submit=Quick%0D%6123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L2	rs9622726	0.313299	0	0	1	0	0	upstream;downstream	upstream;downstream	upstream;downstream	BAIAP2L2;PLA2G6	BAIAP2L2;PLA2G6	ENSG00000128298;ENSG00000184381	Na	Na	Na	Na	Na	Na	Het;T>C	55;5|3	Hom;T>C	253;0|8
N	N	-	22	38535946	38535946	G	A	snp	intronic	 	 	 	 	PLA2G6	Pla2g6	ENSG00000184381	phospholipase A2 group VI	chr22:38507502-38601697	The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]	lung cancer; schizophrenia; Nevi and Melanomas; bladder cancer; Melanoma|Nevus|Precancerous Conditions|Skin Neoplasms; Erythrocytes; Tobacco Use Disorder; Alzheimer's disease; Type 2 Diabetes| edema | rosiglitazone; melanoma|Nevus|Skin Neoplasms|Sunburn; Cutaneous nevi; lung cancer ; Dysplastic Nevus Syndrome; chronic obstructive pulmonary disease; Triglycerides; Melanoma; Parkinson's disease; Neurodegenerative Diseases	Homozygous null mice display impaired male fertility and asthenozoospermia.	COPI-independent Golgi-to-ER retrograde traffic	GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006935;chemotaxis;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007613;memory;IEA|GO:0008152;metabolic process;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019731;antibacterial humoral response;IDA|GO:0032049;cardiolipin biosynthetic process;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035774;positive regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0045921;positive regulation of exocytosis;IEA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0090037;positive regulation of protein kinase C signaling;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1901339;regulation of store-operated calcium channel activity;IEA|GO:2000304;positive regulation of ceramide biosynthetic process;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004623;phospholipase A2 activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0016787;hydrolase activity;TAS|GO:0019901;protein kinase binding;IEA|GO:0043008;ATP-dependent protein binding;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G6		https://hpo.jax.org/app/browse/search?q=PLA2G6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603604	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G6&submit=Quick%0D%15197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G6	rs12329956	0.279752	0.2879	0.3630	1	0	0	intronic	intronic	intronic	PLA2G6	PLA2G6	ENSG00000184381	Na	Na	Na	Na	Na	Na	Het;G>A	706;27|32	Hom;G>A	948;0|36
N	N	-	22	38539041	38539041	T	C	snp	intronic	 	 	 	 	PLA2G6	Pla2g6	ENSG00000184381	phospholipase A2 group VI	chr22:38507502-38601697	The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]	lung cancer; schizophrenia; Nevi and Melanomas; bladder cancer; Melanoma|Nevus|Precancerous Conditions|Skin Neoplasms; Erythrocytes; Tobacco Use Disorder; Alzheimer's disease; Type 2 Diabetes| edema | rosiglitazone; melanoma|Nevus|Skin Neoplasms|Sunburn; Cutaneous nevi; lung cancer ; Dysplastic Nevus Syndrome; chronic obstructive pulmonary disease; Triglycerides; Melanoma; Parkinson's disease; Neurodegenerative Diseases	Homozygous null mice display impaired male fertility and asthenozoospermia.	COPI-independent Golgi-to-ER retrograde traffic	GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006935;chemotaxis;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007613;memory;IEA|GO:0008152;metabolic process;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019731;antibacterial humoral response;IDA|GO:0032049;cardiolipin biosynthetic process;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035774;positive regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0045921;positive regulation of exocytosis;IEA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0090037;positive regulation of protein kinase C signaling;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1901339;regulation of store-operated calcium channel activity;IEA|GO:2000304;positive regulation of ceramide biosynthetic process;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004623;phospholipase A2 activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0016787;hydrolase activity;TAS|GO:0019901;protein kinase binding;IEA|GO:0043008;ATP-dependent protein binding;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G6		https://hpo.jax.org/app/browse/search?q=PLA2G6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603604	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G6&submit=Quick%0D%15197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G6	rs4375	0.497604	0	0	1	0	0	intronic	intronic	intronic	PLA2G6	PLA2G6	ENSG00000184381	Na	Na	Na	Na	Na	Na	Het;T>C	49;1|3	Hom;T>C	358;0|12
N	N	-	22	38541266	38541266	T	C	snp	intronic	 	 	 	 	PLA2G6	Pla2g6	ENSG00000184381	phospholipase A2 group VI	chr22:38507502-38601697	The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]	lung cancer; schizophrenia; Nevi and Melanomas; bladder cancer; Melanoma|Nevus|Precancerous Conditions|Skin Neoplasms; Erythrocytes; Tobacco Use Disorder; Alzheimer's disease; Type 2 Diabetes| edema | rosiglitazone; melanoma|Nevus|Skin Neoplasms|Sunburn; Cutaneous nevi; lung cancer ; Dysplastic Nevus Syndrome; chronic obstructive pulmonary disease; Triglycerides; Melanoma; Parkinson's disease; Neurodegenerative Diseases	Homozygous null mice display impaired male fertility and asthenozoospermia.	COPI-independent Golgi-to-ER retrograde traffic	GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006935;chemotaxis;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007613;memory;IEA|GO:0008152;metabolic process;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019731;antibacterial humoral response;IDA|GO:0032049;cardiolipin biosynthetic process;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035774;positive regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0045921;positive regulation of exocytosis;IEA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0090037;positive regulation of protein kinase C signaling;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1901339;regulation of store-operated calcium channel activity;IEA|GO:2000304;positive regulation of ceramide biosynthetic process;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004623;phospholipase A2 activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0016787;hydrolase activity;TAS|GO:0019901;protein kinase binding;IEA|GO:0043008;ATP-dependent protein binding;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2G6		https://hpo.jax.org/app/browse/search?q=PLA2G6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603604	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G6&submit=Quick%0D%15197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G6	rs1005529	0.469449	0	0	1	0	0	intronic	intronic	intronic	PLA2G6	PLA2G6	ENSG00000184381	Na	Na	Na	Na	Na	Na	Het;T>C	44;2|2	Hom;T>C	137;0|4
N	N	-	22	38851675	38851675	G	C	snp	upstream	 	 	 	 	KCNJ4	Kcnj4	ENSG00000168135	potassium voltage-gated channel subfamily J member 4	chr22:38822332-38851205	Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary	 	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005242;inward rectifier potassium channel activity;TAS|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ4			https://www.ncbi.nlm.nih.gov/omim/?term=600504	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ4&submit=Quick%0D%12202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ4	rs118047999	0.392772	0	0	1	0	0	upstream	upstream	upstream	KCNJ4	KCNJ4	ENSG00000168135	Na	Na	Na	Na	Na	Na	Het;G>C	90;4|6	Hom;G>C	219;0|10
N	N	-	22	38966413	38966413	C	G	snp	upstream	 	 	 	 	DMC1	Dmc1	ENSG00000100206	DNA meiotic recombinase 1	chr22:38914954-38966291	This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	breast cancer; Azoospermia|Oligospermia; Ovarian Failure, Premature; Chronic renal failure|Kidney Failure, Chronic	Homozygotes for targeted mutations are sterile with failure of homologous pairing in meiotic prophase in males and disrupted oogenesis in embryonic females with absence of germ cells in the adult ovary.	Meiotic recombination	GO:0000730;DNA recombinase assembly;IBA|GO:0001541;ovarian follicle development;IEA|GO:0001556;oocyte maturation;IEA|GO:0006259;DNA metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006312;mitotic recombination;IBA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007283;spermatogenesis;TAS|GO:0007286;spermatid development;IEA|GO:0007292;female gamete generation;TAS|GO:0010212;response to ionizing radiation;IBA|GO:0042148;strand invasion;IBA|GO:0051321;meiotic cell cycle;TAS|GO:0070192;chromosome organization involved in meiotic cell cycle;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0000794;condensed nuclear chromosome;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IBA|GO:0005694;chromosome;IEA	GO:0000150;recombinase activity;IBA|GO:0000166;nucleotide binding;IEA|GO:0000400;four-way junction DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0004520;endodeoxyribonuclease activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0008094;DNA-dependent ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DMC1	https://www.uniprot.org/uniprot/Q14565		https://www.ncbi.nlm.nih.gov/omim/?term=602721	http://www.informatics.jax.org/searchtool/Search.do?query=DMC1&submit=Quick%0D%2430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DMC1	rs2413537	0.986821	0	0	1	0	0	upstream	upstream	upstream	DMC1	DMC1	ENSG00000100206	Na	Na	Na	Na	Na	Na	Het;C>G	322;8|11	Hom;C>G	745;0|21
N	N	-	22	39418736	39418736	G	A	snp	intronic	 	 	 	 	APOBEC3D	 	ENSG00000243811	apolipoprotein B mRNA editing enzyme catalytic subunit 3D	chr22:39410368-39429281	This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]		 		GO:0002376;immune system process;IEA|GO:0010529;negative regulation of transposition;IDA|GO:0045087;innate immune response;IEA|GO:0045869;negative regulation of single stranded viral RNA replication via double stranded DNA intermediate;IDA|GO:0051607;defense response to virus;IDA|GO:0070383;DNA cytosine deamination;IDA	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA	GO:0003824;catalytic activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOBEC3D			https://www.ncbi.nlm.nih.gov/omim/?term=609900	http://www.informatics.jax.org/searchtool/Search.do?query=APOBEC3D&submit=Quick%0D%19811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOBEC3D	rs2179234	0.330072	0	0	1	0	0	intronic	intronic	intronic	APOBEC3D	APOBEC3D	ENSG00000243811	Na	Na	Na	Na	Na	Na	Het;G>A	267;3|10	Hom;G>A	714;0|26
N	N	-	22	39419112	39419116	CTATT	C	indel	intronic	 	 	 	 	APOBEC3D	 	ENSG00000243811	apolipoprotein B mRNA editing enzyme catalytic subunit 3D	chr22:39410368-39429281	This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]		 		GO:0002376;immune system process;IEA|GO:0010529;negative regulation of transposition;IDA|GO:0045087;innate immune response;IEA|GO:0045869;negative regulation of single stranded viral RNA replication via double stranded DNA intermediate;IDA|GO:0051607;defense response to virus;IDA|GO:0070383;DNA cytosine deamination;IDA	GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA	GO:0003824;catalytic activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOBEC3D			https://www.ncbi.nlm.nih.gov/omim/?term=609900	http://www.informatics.jax.org/searchtool/Search.do?query=APOBEC3D&submit=Quick%0D%19811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOBEC3D	rs542924634	0	0	0	1	0	0	intronic	intronic	intronic	APOBEC3D	APOBEC3D	ENSG00000243811	Na	Na	Na	Na	Na	Na	Het;-TATT	32;5|2	Hom;-TATT	100;0|3
N	N	-	22	39520396	39520396	A	G	snp	intergenic	 	 	 	 	COX5BP7																		rs10427883	0.490415	0	0	1	0	0	intergenic	intergenic	intergenic	APOBEC3H(dist=20324),CBX7(dist=6383)	APOBEC3H(dist=20324),CBX7(dist=6383)	ENSG00000226024(dist=3825),ENSG00000100307(dist=6381)	Na	Na	Na	Na	Na	Na	Het;A>G	34;1|3	Hom;A>G	161;0|7
N	N	-	22	39709776	39709776	T	C	snp	intronic	 	 	 	 	RPL3	Rpl3	ENSG00000100316	ribosomal protein L3	chr22:39708887-39716394	Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0071353;cellular response to interleukin-4;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0022625;cytosolic large ribosomal subunit;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI|GO:0008097;5S rRNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPL3	https://www.uniprot.org/uniprot/P39023		https://www.ncbi.nlm.nih.gov/omim/?term=604163	http://www.informatics.jax.org/searchtool/Search.do?query=RPL3&submit=Quick%0D%2474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL3	rs137620	0.290535	0.3932	0.4137	1	0	0	intronic	intronic	intronic	RPL3	RPL3	ENSG00000100316	Na	Na	Na	Na	Na	Na	Het;T>C	2875;124|134	Hom;T>C	6355;7|233
N	N	-	22	39710244	39710244	G	A	snp	intronic	 	 	 	 	RPL3	Rpl3	ENSG00000100316	ribosomal protein L3	chr22:39708887-39716394	Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0071353;cellular response to interleukin-4;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0022625;cytosolic large ribosomal subunit;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI|GO:0008097;5S rRNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPL3	https://www.uniprot.org/uniprot/P39023		https://www.ncbi.nlm.nih.gov/omim/?term=604163	http://www.informatics.jax.org/searchtool/Search.do?query=RPL3&submit=Quick%0D%2474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL3	rs137621	0.289936	0.3916	0.4098	1	0	0	intronic	intronic	intronic	RPL3	RPL3	ENSG00000100316	Na	Na	Na	Na	Na	Na	Het;G>A	77;13|5	Hom;G>A	360;0|14
N	N	-	22	39714490	39714490	C	T	snp	synonymous SNV	G111A	P37P	hydrophobic,neutral	hydrophobic,neutral	RPL3	Rpl3	ENSG00000100316	ribosomal protein L3	chr22:39708887-39716394	Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0071353;cellular response to interleukin-4;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0022625;cytosolic large ribosomal subunit;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI|GO:0008097;5S rRNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPL3	https://www.uniprot.org/uniprot/P39023		https://www.ncbi.nlm.nih.gov/omim/?term=604163	http://www.informatics.jax.org/searchtool/Search.do?query=RPL3&submit=Quick%0D%2474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL3	rs6509	0.29972	0.4029	0.4143	1	0	0	exonic	exonic	exonic	RPL3	RPL3	ENSG00000100316	synonymous SNV	synonymous SNV	unknown	RPL3:NM_000967:exon2:c.G111A:p.P37P,RPL3:NM_001033853:exon2:c.G111A:p.P37P,	RPL3:uc011aoj.1:exon2:c.G111A:p.P37P,RPL3:uc003axi.3:exon2:c.G111A:p.P37P,RPL3:uc003axh.3:exon2:c.G111A:p.P37P,	UNKNOWN	Het;C>T	272;9|12	Hom;C>T	480;2|20
N	N	-	22	39715140	39715140	C	T	snp	intronic	 	 	 	 	RPL3	Rpl3	ENSG00000100316	ribosomal protein L3	chr22:39708887-39716394	Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0071353;cellular response to interleukin-4;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0022625;cytosolic large ribosomal subunit;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI|GO:0008097;5S rRNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPL3	https://www.uniprot.org/uniprot/P39023		https://www.ncbi.nlm.nih.gov/omim/?term=604163	http://www.informatics.jax.org/searchtool/Search.do?query=RPL3&submit=Quick%0D%2474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL3	rs470082	0.338658	0.4491	0.4234	1	0	0	intronic	intronic	intronic	RPL3	RPL3	ENSG00000100316	Na	Na	Na	Na	Na	Na	Het;C>T	1076;22|50	Hom;C>T	2001;0|73
N	N	-	22	39913282	39913282	T	G	snp	UTR3	*2954T>G	 	 	 	MIEF1	Mief1	ENSG00000100335	mitochondrial elongation factor 1	chr22:39895437-39914137		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0000266;mitochondrial fission;IMP|GO:0090141;positive regulation of mitochondrial fission;IEA|GO:0090314;positive regulation of protein targeting to membrane;IDA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0019003;GDP binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043531;ADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MIEF1	https://www.uniprot.org/uniprot/L0R8F8		https://www.ncbi.nlm.nih.gov/omim/?term=615497	http://www.informatics.jax.org/searchtool/Search.do?query=MIEF1&submit=Quick%0D%2481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MIEF1	rs1048310	0.285144	0	0	1	0	0	UTR3	UTR3	UTR3	MIEF1(NM_001304564:c.*1904T>G,NM_019008:c.*2954T>G)	SMCR7L(uc003axx.3:c.*2954T>G,uc003axy.3:c.*2954T>G)	ENSG00000100335(ENST00000325301:c.*2954T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	2846;122|126	Hom;T>G	6386;1|231
N	N	-	22	39913420	39913420	C	T	snp	UTR3	*3092C>T	 	 	 	MIEF1	Mief1	ENSG00000100335	mitochondrial elongation factor 1	chr22:39895437-39914137		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0000266;mitochondrial fission;IMP|GO:0090141;positive regulation of mitochondrial fission;IEA|GO:0090314;positive regulation of protein targeting to membrane;IDA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0019003;GDP binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043531;ADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MIEF1	https://www.uniprot.org/uniprot/L0R8F8		https://www.ncbi.nlm.nih.gov/omim/?term=615497	http://www.informatics.jax.org/searchtool/Search.do?query=MIEF1&submit=Quick%0D%2481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MIEF1	rs710192	0.267572	0	0	1	0	0	UTR3	UTR3	UTR3	MIEF1(NM_001304564:c.*2042C>T,NM_019008:c.*3092C>T)	SMCR7L(uc003axx.3:c.*3092C>T,uc003axy.3:c.*3092C>T)	ENSG00000100335(ENST00000325301:c.*3092C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1167;84|59	Hom;C>T	3758;0|139
N	N	-	22	39913557	39913557	G	A	snp	UTR3	*3229G>A	 	 	 	MIEF1	Mief1	ENSG00000100335	mitochondrial elongation factor 1	chr22:39895437-39914137		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0000266;mitochondrial fission;IMP|GO:0090141;positive regulation of mitochondrial fission;IEA|GO:0090314;positive regulation of protein targeting to membrane;IDA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0019003;GDP binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043531;ADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MIEF1	https://www.uniprot.org/uniprot/L0R8F8		https://www.ncbi.nlm.nih.gov/omim/?term=615497	http://www.informatics.jax.org/searchtool/Search.do?query=MIEF1&submit=Quick%0D%2481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MIEF1	rs10854722	0.269169	0	0.3278	1	0	0	UTR3	UTR3	UTR3	MIEF1(NM_001304564:c.*2179G>A,NM_019008:c.*3229G>A)	SMCR7L(uc003axx.3:c.*3229G>A,uc003axy.3:c.*3229G>A)	ENSG00000100335(ENST00000325301:c.*3229G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	941;68|45	Hom;G>A	3518;0|131
N	N	-	22	39917515	39917515	A	C	snp	nonsynonymous SNV	A65C	Q22P	polar,hydrophilic,neutral	hydrophobic,neutral	ATF4	Atf4	ENSG00000128272	activating transcription factor 4	chr22:39915700-39918691	This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]	schizophrenia; Schizophrenia; bipolar disorder; Bone Mineral Density; Lithium response	Mice homozygous for one knock-out allele exhibit postnatal lethality, abnormal lens development, and reduced male fertility. Mice homozygous for a different knock-out allele exhibit abnormal pancreatic and skeletal development, glucose homeostasis, and insulin homeostasis.	ATF6 (ATF6-alpha) activates chaperone genes	GO:0006094;gluconeogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;ISS|GO:0006520;cellular amino acid metabolic process;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007623;circadian rhythm;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034198;cellular response to amino acid starvation;ISS|GO:0034644;cellular response to UV;ISS|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0036003;positive regulation of transcription from RNA polymerase II promoter in response to stress;IC|GO:0036091;positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress;IMP|GO:0036499;PERK-mediated unfolded protein response;TAS|GO:0042149;cellular response to glucose starvation;IMP|GO:0042789;mRNA transcription from RNA polymerase II promoter;ISS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043525;positive regulation of neuron apoptotic process;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048511;rhythmic process;IEA|GO:0061395;positive regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance;TAS|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:1903204;negative regulation of oxidative stress-induced neuron death;IGI|GO:1903351;cellular response to dopamine;IMP|GO:1990440;positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IDA|GO:1990737;response to manganese-induced endoplasmic reticulum stress;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032590;dendrite membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0043005;neuron projection;IDA|GO:1990037;Lewy body core;IDA|GO:1990589;ATF4-CREB1 transcription factor complex;IDA|GO:1990590;ATF1-ATF4 transcription factor complex;IDA|GO:1990617;CHOP-ATF4 complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IC|GO:0001046;core promoter sequence-specific DNA binding;ISS|GO:0001076;transcription factor activity, RNA polymerase II transcription factor binding;IC|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0043522;leucine zipper domain binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046982;protein heterodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/ATF4	https://www.uniprot.org/uniprot/P18848		https://www.ncbi.nlm.nih.gov/omim/?term=604064	http://www.informatics.jax.org/searchtool/Search.do?query=ATF4&submit=Quick%0D%6116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATF4	rs4894	0.273762	0.3022	0.3066	0.31	4	13	exonic	exonic	exonic	ATF4	ATF4	ENSG00000128272	nonsynonymous SNV	nonsynonymous SNV	unknown	ATF4:NM_001675:exon1:c.A65C:p.Q22P,ATF4:NM_182810:exon2:c.A65C:p.Q22P,	ATF4:uc003aya.3:exon1:c.A65C:p.Q22P,ATF4:uc003axz.3:exon2:c.A65C:p.Q22P,	UNKNOWN	Het;A>C	664;23|30	Hom;A>C	1389;0|53
N	N	-	22	39994293	39994293	C	CGCCCT	indel	intronic	 	 	 	 	CACNA1I	Cacna1i	ENSG00000100346	calcium voltage-gated channel subunit alpha1 I	chr22:39966758-40085742	This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	Hematocrit; epilepsy; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Neutrophils	 	NCAM1 interactions	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0019228;neuronal action potential;IBA|GO:0030317;flagellated sperm motility;IEA|GO:0030431;sleep;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008332;low voltage-gated calcium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1I	https://www.uniprot.org/uniprot/Q9P0X4		https://www.ncbi.nlm.nih.gov/omim/?term=608230	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1I&submit=Quick%0D%2487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1I	rs148307297	0.527356	0.3527	0.3877	1	0	0	intronic	intronic	intronic	CACNA1I	CACNA1I	ENSG00000100346	Na	Na	Na	Na	Na	Na	Het;+GCCCT	846;18|24	Hom;+GCCCT	1561;1|38
N	N	-	22	40015493	40015493	C	T	snp	intronic	 	 	 	 	CACNA1I	Cacna1i	ENSG00000100346	calcium voltage-gated channel subunit alpha1 I	chr22:39966758-40085742	This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	Hematocrit; epilepsy; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Neutrophils	 	NCAM1 interactions	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0019228;neuronal action potential;IBA|GO:0030317;flagellated sperm motility;IEA|GO:0030431;sleep;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008332;low voltage-gated calcium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1I	https://www.uniprot.org/uniprot/Q9P0X4		https://www.ncbi.nlm.nih.gov/omim/?term=608230	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1I&submit=Quick%0D%2487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1I	rs12628643	0.504393	0	0	1	0	0	intronic	intronic	intronic	CACNA1I	CACNA1I	ENSG00000100346	Na	Na	Na	Na	Na	Na	Het;C>T	576;19|23	Hom;C>T	1321;0|43
N	N	-	22	40068051	40068051	C	T	snp	intronic	 	 	 	 	CACNA1I	Cacna1i	ENSG00000100346	calcium voltage-gated channel subunit alpha1 I	chr22:39966758-40085742	This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	Hematocrit; epilepsy; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Neutrophils	 	NCAM1 interactions	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0019228;neuronal action potential;IBA|GO:0030317;flagellated sperm motility;IEA|GO:0030431;sleep;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008332;low voltage-gated calcium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1I	https://www.uniprot.org/uniprot/Q9P0X4		https://www.ncbi.nlm.nih.gov/omim/?term=608230	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1I&submit=Quick%0D%2487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1I	rs4820386	0.635583	0	0	1	0	0	intronic	intronic	intronic	CACNA1I	CACNA1I	ENSG00000100346	Na	Na	Na	Na	Na	Na	Het;C>T	151;4|6	Hom;C>T	217;0|7
N	N	-	22	40068853	40068853	T	C	snp	intronic	 	 	 	 	CACNA1I	Cacna1i	ENSG00000100346	calcium voltage-gated channel subunit alpha1 I	chr22:39966758-40085742	This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	Hematocrit; epilepsy; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Neutrophils	 	NCAM1 interactions	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0019228;neuronal action potential;IBA|GO:0030317;flagellated sperm motility;IEA|GO:0030431;sleep;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008332;low voltage-gated calcium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1I	https://www.uniprot.org/uniprot/Q9P0X4		https://www.ncbi.nlm.nih.gov/omim/?term=608230	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1I&submit=Quick%0D%2487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1I	rs2235342	0.638379	0	0	1	0	0	intronic	intronic	intronic	CACNA1I	CACNA1I	ENSG00000100346	Na	Na	Na	Na	Na	Na	Het;T>C	304;15|11	Hom;T>C	768;0|23
N	N	-	22	40069245	40069245	T	C	snp	intronic	 	 	 	 	CACNA1I	Cacna1i	ENSG00000100346	calcium voltage-gated channel subunit alpha1 I	chr22:39966758-40085742	This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]	Hematocrit; epilepsy; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Neutrophils	 	NCAM1 interactions	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0019228;neuronal action potential;IBA|GO:0030317;flagellated sperm motility;IEA|GO:0030431;sleep;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008332;low voltage-gated calcium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1I	https://www.uniprot.org/uniprot/Q9P0X4		https://www.ncbi.nlm.nih.gov/omim/?term=608230	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1I&submit=Quick%0D%2487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1I	rs738315	0.638978	0	0	1	0	0	intronic	intronic	intronic	CACNA1I	CACNA1I	ENSG00000100346	Na	Na	Na	Na	Na	Na	Het;T>C	227;9|10	Hom;T>C	577;0|19
N	N	-	22	41833116	41833116	C	T	snp	synonymous SNV	G234A	A78A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TOB2	Tob2	ENSG00000183864	transducer of ERBB2, 2	chr22:41829496-41843027	TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]		Mice homozygous for a targeted mutation display reduced bone mass due to increased osteoclast numbers and acceleration of the bone resorption rate.		GO:0007292;female gamete generation;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0023052;signaling;IBA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003714;transcription corepressor activity;IBA|GO:0005515;protein binding;IPI|GO:0042809;vitamin D receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TOB2			https://www.ncbi.nlm.nih.gov/omim/?term=607396	http://www.informatics.jax.org/searchtool/Search.do?query=TOB2&submit=Quick%0D%15099ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOB2	rs202641	0.71266	0.7486	0.7318	1	0	0	exonic	exonic	exonic	TOB2	TOB2	ENSG00000183864	synonymous SNV	synonymous SNV	unknown	TOB2:NM_016272:exon2:c.G234A:p.A78A,	TOB2:uc003azz.1:exon2:c.G234A:p.A78A,TOB2:uc021wqf.1:exon1:c.G234A:p.A78A,	UNKNOWN	Het;C>T	2396;162|121	Hom;C>T	7654;0|283
N	N	-	22	41833527	41833527	C	T	snp	intronic	 	 	 	 	TOB2	Tob2	ENSG00000183864	transducer of ERBB2, 2	chr22:41829496-41843027	TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]		Mice homozygous for a targeted mutation display reduced bone mass due to increased osteoclast numbers and acceleration of the bone resorption rate.		GO:0007292;female gamete generation;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0023052;signaling;IBA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003714;transcription corepressor activity;IBA|GO:0005515;protein binding;IPI|GO:0042809;vitamin D receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TOB2			https://www.ncbi.nlm.nih.gov/omim/?term=607396	http://www.informatics.jax.org/searchtool/Search.do?query=TOB2&submit=Quick%0D%15099ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOB2	rs202642	0.726837	0	0	1	0	0	intronic	intronic	intronic	TOB2	TOB2	ENSG00000183864	Na	Na	Na	Na	Na	Na	Het;C>T	94;2|4	Hom;C>T	221;0|7
N	N	-	22	41863423	41863423	A	G	snp	intronic	 	 	 	 	PHF5A	Phf5a	ENSG00000100410	PHD finger protein 5A	chr22:41855721-41864729	This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]		Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E6.	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005686;U2 snRNP;IDA|GO:0005689;U12-type spliceosomal complex;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PHF5A	https://www.uniprot.org/uniprot/Q7RTV0			http://www.informatics.jax.org/searchtool/Search.do?query=PHF5A&submit=Quick%0D%2512ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF5A	rs202631	0.741613	0.7835	0.7449	1	0	0	intronic	intronic	intronic	PHF5A	PHF5A	ENSG00000100410	Na	Na	Na	Na	Na	Na	Het;A>G	155;4|7	Hom;A>G	664;0|25
N	N	-	22	41864216	41864216	A	C	snp	intronic	 	 	 	 	PHF5A	Phf5a	ENSG00000100410	PHD finger protein 5A	chr22:41855721-41864729	This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]		Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E6.	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005686;U2 snRNP;IDA|GO:0005689;U12-type spliceosomal complex;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PHF5A	https://www.uniprot.org/uniprot/Q7RTV0			http://www.informatics.jax.org/searchtool/Search.do?query=PHF5A&submit=Quick%0D%2512ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF5A	rs505533	0.491813	0.6601	0	1	0	0	intronic	intronic	intronic	PHF5A	PHF5A	ENSG00000100410	Na	Na	Na	Na	Na	Na	Het;A>C	201;17|11	Hom;A>C	635;0|24
N	N	-	22	42031953	42031953	C	G	snp	intronic	 	 	 	 	XRCC6	Xrcc6	ENSG00000196419	X-ray repair cross complementing 6	chr22:42017123-42060044	The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]	breast cancer; Type 2 Diabetes| edema | rosiglitazone; prostate cancer; DNA Damage; brain cancer; head and neck cancer; esophageal adenocarcinoma; Adenocarcinoma|Carcinoma, Squamous Cell|Deglutition Disorders|Head and Neck Neoplasms|Radiodermatitis; Breast Neoplasms|; lung cancer ; Brain Neoplasms|Glioma; Chronic renal failure|Kidney Failure, Chronic; Pterygium; null; multiple sclerosis; Leukemia, Lymphocytic, Chronic, B-Cell; Neoplasms; epithelial ovarian cancer ; breast cancer ; lung cancer; bladder cancer	Mice homozygous for a knock-out allele exhibit neuron apoptosis, decreased body size, abnormal B and T cell morphology, increased incidence of tumorigenesis, and increased cellular sensitivity to irradiation.	Neutrophil degranulation	GO:0000723;telomere maintenance;IEA|GO:0006266;DNA ligation;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048660;regulation of smooth muscle cell proliferation;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0071475;cellular hyperosmotic salinity response;IEA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IEA|GO:0075713;establishment of integrated proviral latency;TAS|GO:0097680;double-strand break repair via classical nonhomologous end joining;IDA	GO:0000783;nuclear telomere cap complex;TAS|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0032993;protein-DNA complex;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043234;protein complex;IDA|GO:0043564;Ku70:Ku80 complex;IEA|GO:0070419;nonhomologous end joining complex;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;TAS|GO:0003691;double-stranded telomeric DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016829;lyase activity;IEA|GO:0042162;telomeric DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0044877;macromolecular complex binding;IPI|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/XRCC6			https://www.ncbi.nlm.nih.gov/omim/?term=152690	http://www.informatics.jax.org/searchtool/Search.do?query=XRCC6&submit=Quick%0D%16356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XRCC6	rs132774	0.660343	0	0	1	0	0	intronic	intronic	intronic	XRCC6	XRCC6	ENSG00000196419	Na	Na	Na	Na	Na	Na	Het;C>G	81;3|4	Hom;C>G	336;0|10
N	N	-	22	42076381	42076381	C	A	snp	intronic	 	 	 	 	NHP2L1	 																	rs5758405	0.777756	0.8355	0.7528	1	0	0	intronic	intronic	intronic	NHP2L1	NHP2L1	ENSG00000100138	Na	Na	Na	Na	Na	Na	Het;C>A	626;38|31	Hom;C>A	1697;0|62
N	N	-	22	42089623	42089623	T	C	snp	nonsynonymous SNV	T373C	W125R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	C22orf46	4930407I10Rik	ENSG00000184208	chromosome 22 open reading frame 46	chr22:42084943-42094140			 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C22orf46				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf46&submit=Quick%0D%15156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf46	rs739134	0.795727	0.8338	0.7770	0.27	3	11	exonic	exonic	exonic	C22orf46	C22orf46	ENSG00000184208	nonsynonymous SNV	nonsynonymous SNV	unknown	C22orf46:NM_001142964:exon2:c.T373C:p.W125R,	C22orf46:uc003bax.1:exon2:c.T373C:p.W125R,	UNKNOWN	Het;T>C	1540;109|79	Hom;T>C	5443;0|190
N	N	-	22	42090069	42090069	A	C	snp	UTR3	*87A>C	 	 	 	C22orf46	4930407I10Rik	ENSG00000184208	chromosome 22 open reading frame 46	chr22:42084943-42094140			 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C22orf46				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf46&submit=Quick%0D%15156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf46	rs739135	0.841653	0	0	1	0	0	UTR3	UTR3	UTR3	C22orf46(NM_001142964:c.*87A>C)	C22orf46(uc003bax.1:c.*87A>C)	ENSG00000184208(ENST00000402966:c.*87A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	616;13|21	Hom;A>C	419;0|13
N	N	-	22	42109917	42109917	A	G	snp	intronic	 	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs5758431	0.810503	0	0	1	0	0	intronic	intronic	intronic	MEI1	MEI1	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;A>G	261;7|9	Hom;A>G	407;1|11
N	N	-	22	42111896	42111896	A	T	snp	intronic	 	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs9306355	0.619808	0	0	1	0	0	intronic	intronic	intronic	MEI1	MEI1	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;A>T	93;2|4	Hom;A>T	242;0|9
N	N	-	22	42139054	42139054	G	A	snp	intronic	 	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs5751147	0.840256	0.8571	0.7971	1	0	0	intronic	intronic	intronic	MEI1	MEI1,bK250D10.C22.8	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;G>A	811;31|38	Hom;G>A	1611;0|61
N	N	-	22	42139078	42139078	A	G	snp	intronic	 	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs5751148	0.840655	0.8572	0.7905	1	0	0	intronic	intronic	intronic	MEI1	MEI1,bK250D10.C22.8	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;A>G	1227;41|51	Hom;A>G	2312;0|83
N	N	-	22	42148467	42148467	G	A	snp	UTR5	-1529G>A	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs715498	0.840655	0	0	1	0	0	intronic	UTR5	intronic	MEI1	MEI1(uc003bbb.1:c.-1529G>A,uc003bbc.1:c.-1529G>A,uc010gym.1:c.-1529G>A)	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;G>A	33;2|2	Hom;G>A	190;0|6
N	N	-	22	42150146	42150146	C	T	snp	intronic	 	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs1534932	0.841454	0	0	1	0	0	intronic	intronic	intronic	MEI1	MEI1,bK250D10.C22.8	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;C>T	132;5|6	Hom;C>T	114;0|4
N	N	-	22	42159072	42159072	A	G	snp	intronic	 	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs713988	0.841653	0	0	1	0	0	intronic	intronic	intronic	MEI1	MEI1,bK250D10.C22.8	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;A>G	77;7|3	Hom;A>G	332;0|8
N	N	-	22	42159073	42159073	T	C	snp	intronic	 	 	 	 	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs737749	0.841653	0	0	1	0	0	intronic	intronic	intronic	MEI1	MEI1,bK250D10.C22.8	ENSG00000167077	Na	Na	Na	Na	Na	Na	Het;T>C	77;7|3	Hom;T>C	332;0|8
N	N	-	22	42159229	42159229	G	T	snp	synonymous SNV	G276T	S92S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MEI1	Mei1	ENSG00000167077	meiotic double-stranded break formation protein 1	chr22:42095503-42195460	MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 	Tobacco Use Disorder	Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile.		GO:0007127;meiosis I;IBA|GO:0007141;male meiosis I;IEA|GO:0007276;gamete generation;IEA|GO:0007286;spermatid development;IEA|GO:0045141;meiotic telomere clustering;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005623;cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI1			https://www.ncbi.nlm.nih.gov/omim/?term=608797	http://www.informatics.jax.org/searchtool/Search.do?query=MEI1&submit=Quick%0D%11938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI1	rs2050033	0.841254	0.8575	0.7858	1	0	0	exonic	exonic	exonic	MEI1	MEI1	ENSG00000167077	synonymous SNV	synonymous SNV	unknown	MEI1:NM_152513:exon19:c.G2172T:p.S724S,	MEI1:uc010gym.1:exon4:c.G276T:p.S92S,MEI1:uc003baz.1:exon19:c.G2172T:p.S724S,MEI1:uc003bbc.1:exon4:c.G276T:p.S92S,	UNKNOWN	Het;G>T	1432;68|71	Hom;G>T	2960;0|111
N	N	-	22	42397042	42397042	G	T	snp	intronic	 	 	 	 	WBP2NL	Wbp2nl	ENSG00000183066	WBP2 N-terminal like	chr22:42394729-42454460	WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]		Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility.		GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0033011;perinuclear theca;IEA	GO:0050699;WW domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL			https://www.ncbi.nlm.nih.gov/omim/?term=610981	http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL	rs5758537	0.485623	0	0	1	0	0	intronic	intronic	intronic	WBP2NL	WBP2NL	ENSG00000183066	Na	Na	Na	Na	Na	Na	Het;G>T	117;11|6	Hom;G>T	811;1|31
N	N	-	22	42399325	42399325	G	A	snp	intronic	 	 	 	 	WBP2NL	Wbp2nl	ENSG00000183066	WBP2 N-terminal like	chr22:42394729-42454460	WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]		Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility.		GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0033011;perinuclear theca;IEA	GO:0050699;WW domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL			https://www.ncbi.nlm.nih.gov/omim/?term=610981	http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL	rs129855	0.485224	0	0	1	0	0	intronic	intronic	intronic	WBP2NL	WBP2NL	ENSG00000183066	Na	Na	Na	Na	Na	Na	Het;G>A	793;43|40	Hom;G>A	2197;1|86
N	N	-	22	42399396	42399396	C	G	snp	intronic	 	 	 	 	WBP2NL	Wbp2nl	ENSG00000183066	WBP2 N-terminal like	chr22:42394729-42454460	WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]		Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility.		GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0033011;perinuclear theca;IEA	GO:0050699;WW domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL			https://www.ncbi.nlm.nih.gov/omim/?term=610981	http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL	rs129856	0.482029	0	0	1	0	0	intronic	intronic	intronic	WBP2NL	WBP2NL	ENSG00000183066	Na	Na	Na	Na	Na	Na	Het;C>G	688;50|34	Hom;C>G	1586;2|59
N	N	-	22	42416056	42416056	A	G	snp	nonsynonymous SNV	A362G	D121G	polar,hydrophilic,charged(-)	aliphatic,neutral	WBP2NL	Wbp2nl	ENSG00000183066	WBP2 N-terminal like	chr22:42394729-42454460	WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]		Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility.		GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0033011;perinuclear theca;IEA	GO:0050699;WW domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL			https://www.ncbi.nlm.nih.gov/omim/?term=610981	http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL	rs133335	0.546126	0.4698	0.4998	0.23	3	13	exonic	exonic	exonic	WBP2NL	WBP2NL	ENSG00000183066	nonsynonymous SNV	nonsynonymous SNV	unknown	WBP2NL:NM_152613:exon4:c.A362G:p.D121G,	WBP2NL:uc003bbt.3:exon4:c.A362G:p.D121G,	UNKNOWN	Het;A>G	369;38|20	Hom;A>G	874;0|32
N	N	-	22	42423110	42423110	G	C	snp	nonsynonymous SNV	G855C	Q285H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	WBP2NL	Wbp2nl	ENSG00000183066	WBP2 N-terminal like	chr22:42394729-42454460	WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]		Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility.		GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0033011;perinuclear theca;IEA	GO:0050699;WW domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL			https://www.ncbi.nlm.nih.gov/omim/?term=610981	http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL	rs2301521	0.777756	0.7483	0.7059	0.08	1	12	exonic	exonic	exonic	WBP2NL	WBP2NL	ENSG00000183066	nonsynonymous SNV	nonsynonymous SNV	unknown	WBP2NL:NM_152613:exon6:c.G855C:p.Q285H,	WBP2NL:uc011apk.2:exon4:c.G471C:p.Q157H,WBP2NL:uc003bbt.3:exon6:c.G855C:p.Q285H,	UNKNOWN	Het;G>C	1723;74|85	Hom;G>C	4482;0|167
N	N	-	22	42454354	42454354	G	A	snp	UTR3	*334G>A	 	 	 	WBP2NL	Wbp2nl	ENSG00000183066	WBP2 N-terminal like	chr22:42394729-42454460	WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]		Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility.		GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0033011;perinuclear theca;IEA	GO:0050699;WW domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL			https://www.ncbi.nlm.nih.gov/omim/?term=610981	http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL	rs5758566	0.647564	0	0	1	0	0	UTR3	UTR3	UTR3	NAGA(NM_000262:c.*1929C>T)	NAGA(uc003bbw.4:c.*1929C>T)	ENSG00000183066(ENST00000436265:c.*334G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	403;27|23	Hom;G>A	870;0|35
N	N	-	22	42454950	42454950	A	G	snp	UTR3	*1333T>C	 	 	 	NAGA	Naga	ENSG00000198951	alpha-N-acetylgalactosaminidase	chr22:42454358-42466846	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]	Schindler disease	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016052;carbohydrate catabolic process;IDA|GO:0016139;glycoside catabolic process;IBA|GO:0019377;glycolipid catabolic process;IMP	GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004557;alpha-galactosidase activity;IBA|GO:0008456;alpha-N-acetylgalactosaminidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAGA		https://hpo.jax.org/app/browse/search?q=NAGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104170	http://www.informatics.jax.org/searchtool/Search.do?query=NAGA&submit=Quick%0D%17097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGA	rs1063392	0.459465	0	0	1	0	0	UTR3	UTR3	UTR3	NAGA(NM_000262:c.*1333T>C)	NAGA(uc003bbw.4:c.*1333T>C)	ENSG00000198951(ENST00000396398:c.*1333T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	354;8|15	Hom;A>G	1023;0|39
N	N	-	22	42463366	42463366	C	T	snp	intronic	 	 	 	 	NAGA	Naga	ENSG00000198951	alpha-N-acetylgalactosaminidase	chr22:42454358-42466846	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]	Schindler disease	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016052;carbohydrate catabolic process;IDA|GO:0016139;glycoside catabolic process;IBA|GO:0019377;glycolipid catabolic process;IMP	GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004557;alpha-galactosidase activity;IBA|GO:0008456;alpha-N-acetylgalactosaminidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAGA		https://hpo.jax.org/app/browse/search?q=NAGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104170	http://www.informatics.jax.org/searchtool/Search.do?query=NAGA&submit=Quick%0D%17097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGA	rs133367	0.471446	0	0	1	0	0	intronic	intronic	intronic	NAGA	NAGA	ENSG00000198951	Na	Na	Na	Na	Na	Na	Het;C>T	634;25|30	Hom;C>T	1172;0|44
N	N	-	22	42463689	42463689	T	C	snp	intronic	 	 	 	 	NAGA	Naga	ENSG00000198951	alpha-N-acetylgalactosaminidase	chr22:42454358-42466846	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]	Schindler disease	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016052;carbohydrate catabolic process;IDA|GO:0016139;glycoside catabolic process;IBA|GO:0019377;glycolipid catabolic process;IMP	GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004557;alpha-galactosidase activity;IBA|GO:0008456;alpha-N-acetylgalactosaminidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAGA		https://hpo.jax.org/app/browse/search?q=NAGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104170	http://www.informatics.jax.org/searchtool/Search.do?query=NAGA&submit=Quick%0D%17097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGA	rs133368	0.644369	0	0	1	0	0	intronic	intronic	intronic	NAGA	NAGA	ENSG00000198951	Na	Na	Na	Na	Na	Na	Het;T>C	179;6|11	Hom;T>C	312;0|10
N	N	-	22	42463814	42463814	C	T	snp	synonymous SNV	G279A	P93P	hydrophobic,neutral	hydrophobic,neutral	NAGA	Naga	ENSG00000198951	alpha-N-acetylgalactosaminidase	chr22:42454358-42466846	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]	Schindler disease	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016052;carbohydrate catabolic process;IDA|GO:0016139;glycoside catabolic process;IBA|GO:0019377;glycolipid catabolic process;IMP	GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004557;alpha-galactosidase activity;IBA|GO:0008456;alpha-N-acetylgalactosaminidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAGA		https://hpo.jax.org/app/browse/search?q=NAGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104170	http://www.informatics.jax.org/searchtool/Search.do?query=NAGA&submit=Quick%0D%17097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGA	rs133369	0.676917	0.6425	0.6728	1	0	0	exonic	exonic	exonic	NAGA	NAGA	ENSG00000198951	synonymous SNV	synonymous SNV	unknown	NAGA:NM_000262:exon3:c.G279A:p.P93P,	NAGA:uc003bbw.4:exon3:c.G279A:p.P93P,	UNKNOWN	Het;C>T	1506;45|65	Hom;C>T	2656;0|103
N	N	-	22	42466509	42466509	C	G	snp	UTR5	-208G>C	 	 	 	NAGA	Naga	ENSG00000198951	alpha-N-acetylgalactosaminidase	chr22:42454358-42466846	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]	Schindler disease	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016052;carbohydrate catabolic process;IDA|GO:0016139;glycoside catabolic process;IBA|GO:0019377;glycolipid catabolic process;IMP	GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004557;alpha-galactosidase activity;IBA|GO:0008456;alpha-N-acetylgalactosaminidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAGA		https://hpo.jax.org/app/browse/search?q=NAGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104170	http://www.informatics.jax.org/searchtool/Search.do?query=NAGA&submit=Quick%0D%17097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGA	rs133375	0.642372	0	0	1	0	0	UTR5	UTR5	UTR5	NAGA(NM_000262:c.-208G>C)	NAGA(uc003bbw.4:c.-208G>C)	ENSG00000198951(ENST00000396398:c.-208G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	814;40|38	Hom;C>G	1765;0|63
N	N	-	22	42466905	42466905	C	T	snp	upstream	 	 	 	 	NAGA	Naga	ENSG00000198951	alpha-N-acetylgalactosaminidase	chr22:42454358-42466846	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]	Schindler disease	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016052;carbohydrate catabolic process;IDA|GO:0016139;glycoside catabolic process;IBA|GO:0019377;glycolipid catabolic process;IMP	GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004557;alpha-galactosidase activity;IBA|GO:0008456;alpha-N-acetylgalactosaminidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAGA		https://hpo.jax.org/app/browse/search?q=NAGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=104170	http://www.informatics.jax.org/searchtool/Search.do?query=NAGA&submit=Quick%0D%17097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGA	rs133376	0.327476	0	0	1	0	0	upstream	upstream	upstream	NAGA	NAGA	ENSG00000198951	Na	Na	Na	Na	Na	Na	Het;C>T	211;13|12	Hom;C>T	648;0|24
N	N	-	22	42473603	42473603	C	T	snp	synonymous SNV	C306T	A102A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAM109B	Fam109b	ENSG00000177096	family with sequence similarity 109 member B	chr22:42470255-42475445			 		GO:0001881;receptor recycling;IMP|GO:0007032;endosome organization;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IDA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM109B			https://www.ncbi.nlm.nih.gov/omim/?term=614240	http://www.informatics.jax.org/searchtool/Search.do?query=FAM109B&submit=Quick%0D%13966ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM109B	rs133383	0.327476	0.3313	0.4372	1	0	0	exonic	exonic	exonic	FAM109B	FAM109B	ENSG00000177096	synonymous SNV	synonymous SNV	unknown	FAM109B:NM_001002034:exon3:c.C306T:p.A102A,	FAM109B:uc003bbz.3:exon3:c.C306T:p.A102A,FAM109B:uc021wqi.1:exon1:c.C306T:p.A102A,	UNKNOWN	Het;C>T	1686;76|79	Hom;C>T	5290;0|193
N	N	-	22	42522613	42522613	G	C	snp	nonsynonymous SNV	C1457G	T486S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CYP2D6	Cyp2d12	ENSG00000283284	cytochrome P450 family 2 subfamily D member 6	chr22:42522501-42526908	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; Parkinson's disease ; Agitation|Dyskinesia, Drug-Induced|Psychomotor Agitation; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; simvastatin treatment, efficacy and tolerability; arthritis; osteoarthritis; aging; Spondylitis, Ankylosing; Inflammation|Premature Birth; asthma; rhinitis; Autism; 9-Hydroxyrisperidone and Risperidone; fluoxetine pharmacokinetics; breast cancer; postoperative tramadol analgesia; Breast Neoplasms|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; Basal Ganglia Diseases; fatal drug intoxication; leukemia, adult acute; trimipramine pharmakokinetics; heart rate; risperidone metabolism; Breast Neoplasms|; Anemia, Sickle Cell; typical antipsychotics; Diabetes Mellitus; Neuroleptic Malignant Syndrome; CYP2D6 poor metabolizer phenotype.; lung cancer ; smoking; Multiple Chemical Sensitivity; multiple chemical sensitivity; Alzheimer's Disease; endoxifen; Atrial Fibrillation|Postoperative Complications|Tachycardia; plasma concentrations of carvedilol; personality disorders; Bone Mineral Density; Multiple Myeloma|Neoplasm Recurrence, Local; Hyperlipidemias; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; Cardiovascular Diseases; neuroleptic malignant syndrome; Muscular Diseases; Basal Ganglia Diseases|; personality; Low Back Pain; Breast Neoplasms|Mammary Neoplasms|Neoplasm Recurrence, Local; Opioid-Related Disorders|Pain; colorectal cancer; essential tremor; Infection|Inflammation|Premature Birth; patent ductus arteriosus; Amphetamine-Related Disorders|Brain Diseases, Metabolic; metoprolol; Breast Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; depression; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; efficacy and tolerability of simvastatin; bladder cancer; flecainide and paroxetine; Drug-Induced Liver Injury; Dyskinesia, Drug-Induced|Parkinsonian Disorders; Dyskinesia, Drug-Induced; HIV infection; CYP2C19 activity; CYP2D6 activitiy; multiple system atrophy; Hypertension|Pregnancy Complications, Cardiovascular; Nausea|Neoplasms|Vomiting; manganism, susceptibility to occupational chronic; CYP2D6 poor metabolizer phenotype; depressive disorder, major; Scleroderma, Diffuse|Scleroderma, Limited|Scleroderma, Systemic; Birth Weight|Fetal Growth Retardation; Amphetamine-Related Disorders; malignant melanoma; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; schizophrenia; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Porphyrias|porphyrin disorder; Dysmenorrhea; Hepatitis C, Chronic|Liver Cirrhosis; amitriptyline; nortriptyline; head and neck cancer; Asthma|; hypercholesterolemia; H. pylori infection; coagulation disorder; psychiatric disorders; breast cancer ; pharmacogenetic studies; Hypercholesterolemia|LDLC levels; Hypercholesterolemia; Depression, Postpartum|Pregnancy Complications; liver cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; citalopram; diabetes, type 2; preterm delivery; Breast Neoplasms|Mammary Neoplasms; diminished debrisoquine hydroxylase activity; CYP2D6 activitiy; Tuberculosis, Pulmonary; Stomach Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; opioid drug (tramadol) metabolite ratios; cardiovascular disease; Disorders of Excessive Somnolence|Fatigue|Gastrointestinal Diseases|Respiratory Tract Infections|Rhinitis|Urticaria|Xerostomia; Arrhythmias, Cardiac|Ventricular Premature Complexes; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lewy bodies; anticoagulant complications; treatment response in psychotic patients; Pulmonary Disease, Chronic Obstructive; Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; haloperidol, plasma; fluvoxamine toxicity; hypertension; Cardiovascular Diseases|Kidney Diseases; Schizophrenia; Body Weight; drug-related genes ; Adenoma|Pituitary Neoplasms; Human Longevity; doxepin metabolism; timolol pharmacokinetics; cervical cancer; phenytoin levels; clomipramine metabolism; Psychophysiologic Disorders; malignant syndrome; leukemia, myeloid; Glaucoma; Breast Neoplasms|Hot Flashes; nomal variation; nephropathy; prostate cancer; Leukemia; Anemia, Sickle Cell|Pain|Sickle cell anemia; macular degeneration; tardive dyskinesia; leukemia, childhood acute lymphoblastic; Parkinson's Disease; cirrhosis, biliary primary; Chromosome Aberrations; Hypertension; Apnea|Opioid-Related Disorders|Pain; Haematological Neoplasias; H. pylori infection; Heart Failure; clozapine; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Chromosome Aberrations|Chromosome abnormality; Pain, Postoperative|Stomach Neoplasms; Bradycardia|Glaucoma, Open-Angle|Ocular Hypertension; agranulocytosis; ADHD | attention-deficit hyperactivity disorder; liver cancer; liver disease; methadone toxicity; lung cancer; liver cancer; Atrial Fibrillation; Perioperative genomic profiles ; preeclampsia; hypoglycemia; ulcer, gastric; repaglinide pharmacology; coagulation disorder; breast cancer; tamoxifen, prophylactic effect of; drug oxidation; extrapyramidal side effects; atrial fibrillation; amitriptyline metabolism; tamoxifen, metabolism; drug hypersensitivity; HIV Infections; Adenoma|Colorectal Neoplasms; CYP2D7/CYP2D6 poor metabolizer phenotype.; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; liver disease; Basal Ganglia Diseases|Dyskinesia, Drug-Induced; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; tramadol pharmacokinetics; Polycystic Ovary Syndrome; antidepressant medication intolerance.; poor metabolizer of CYP2D6; methamphetamine use; Pain, Postoperative; Manganese Poisoning; Leukemia, Myeloid; Birth Weight|Critical Illness; smoking behavior; Alzheimer's disease ; Coronary Artery Disease|Hypertension; Postoperative Nausea and Vomiting; Heroin Dependence|Substance-Related Disorders; seizures; thrombosis, deep vein; systemic sclerosis; miscarriage; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; normal variation; Gastroparesis; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; null; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; dementia with Lewy bodies; citalopram metabolism; Cleft Lip|Cleft Palate; Parkinson's disease; treatment resistance to typical neuroleptics; voriconazole; Nausea; systemic lupus erythematosus; Substance Withdrawal Syndrome; Hyponatremia; plasma concentrations of fluoxetine and paroxetine; multiple sclerosis; major depressive disorder; Lichen Planus, Oral; inflammatory bowel disease ; Type 2 diabetes; Alzheimer's disease; Epilepsy, Tonic-Clonic; Alzheimer's disease|Parkinson's disease; loratadine pharmacokinetics	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2D6			https://www.ncbi.nlm.nih.gov/omim/?term=124030	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2D6&submit=Quick%0D%22715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2D6	rs1135840	0.401158	0.4083	0.4556	1	0	0	exonic	exonic	exonic	CYP2D6	CYP2D6	ENSG00000100197	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2D6:NM_000106:exon9:c.C1457G:p.T486S,CYP2D6:NM_001025161:exon8:c.C1304G:p.T435S,	CYP2D6:uc003bce.3:exon9:c.C1457G:p.T486S,CYP2D6:uc010gyu.3:exon7:c.C539G:p.T180S,CYP2D6:uc003bcf.3:exon8:c.C1304G:p.T435S,	UNKNOWN	Het;G>C	3577;122|96	Hom;G>C	10774;3|312
N	N	-	22	42523943	42523943	A	G	snp	nonsynonymous SNV	T886C	C296R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	CYP2D6	Cyp2d12	ENSG00000283284	cytochrome P450 family 2 subfamily D member 6	chr22:42522501-42526908	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; Parkinson's disease ; Agitation|Dyskinesia, Drug-Induced|Psychomotor Agitation; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; simvastatin treatment, efficacy and tolerability; arthritis; osteoarthritis; aging; Spondylitis, Ankylosing; Inflammation|Premature Birth; asthma; rhinitis; Autism; 9-Hydroxyrisperidone and Risperidone; fluoxetine pharmacokinetics; breast cancer; postoperative tramadol analgesia; Breast Neoplasms|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; Basal Ganglia Diseases; fatal drug intoxication; leukemia, adult acute; trimipramine pharmakokinetics; heart rate; risperidone metabolism; Breast Neoplasms|; Anemia, Sickle Cell; typical antipsychotics; Diabetes Mellitus; Neuroleptic Malignant Syndrome; CYP2D6 poor metabolizer phenotype.; lung cancer ; smoking; Multiple Chemical Sensitivity; multiple chemical sensitivity; Alzheimer's Disease; endoxifen; Atrial Fibrillation|Postoperative Complications|Tachycardia; plasma concentrations of carvedilol; personality disorders; Bone Mineral Density; Multiple Myeloma|Neoplasm Recurrence, Local; Hyperlipidemias; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; Cardiovascular Diseases; neuroleptic malignant syndrome; Muscular Diseases; Basal Ganglia Diseases|; personality; Low Back Pain; Breast Neoplasms|Mammary Neoplasms|Neoplasm Recurrence, Local; Opioid-Related Disorders|Pain; colorectal cancer; essential tremor; Infection|Inflammation|Premature Birth; patent ductus arteriosus; Amphetamine-Related Disorders|Brain Diseases, Metabolic; metoprolol; Breast Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; depression; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; efficacy and tolerability of simvastatin; bladder cancer; flecainide and paroxetine; Drug-Induced Liver Injury; Dyskinesia, Drug-Induced|Parkinsonian Disorders; Dyskinesia, Drug-Induced; HIV infection; CYP2C19 activity; CYP2D6 activitiy; multiple system atrophy; Hypertension|Pregnancy Complications, Cardiovascular; Nausea|Neoplasms|Vomiting; manganism, susceptibility to occupational chronic; CYP2D6 poor metabolizer phenotype; depressive disorder, major; Scleroderma, Diffuse|Scleroderma, Limited|Scleroderma, Systemic; Birth Weight|Fetal Growth Retardation; Amphetamine-Related Disorders; malignant melanoma; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; schizophrenia; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Porphyrias|porphyrin disorder; Dysmenorrhea; Hepatitis C, Chronic|Liver Cirrhosis; amitriptyline; nortriptyline; head and neck cancer; Asthma|; hypercholesterolemia; H. pylori infection; coagulation disorder; psychiatric disorders; breast cancer ; pharmacogenetic studies; Hypercholesterolemia|LDLC levels; Hypercholesterolemia; Depression, Postpartum|Pregnancy Complications; liver cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; citalopram; diabetes, type 2; preterm delivery; Breast Neoplasms|Mammary Neoplasms; diminished debrisoquine hydroxylase activity; CYP2D6 activitiy; Tuberculosis, Pulmonary; Stomach Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; opioid drug (tramadol) metabolite ratios; cardiovascular disease; Disorders of Excessive Somnolence|Fatigue|Gastrointestinal Diseases|Respiratory Tract Infections|Rhinitis|Urticaria|Xerostomia; Arrhythmias, Cardiac|Ventricular Premature Complexes; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lewy bodies; anticoagulant complications; treatment response in psychotic patients; Pulmonary Disease, Chronic Obstructive; Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; haloperidol, plasma; fluvoxamine toxicity; hypertension; Cardiovascular Diseases|Kidney Diseases; Schizophrenia; Body Weight; drug-related genes ; Adenoma|Pituitary Neoplasms; Human Longevity; doxepin metabolism; timolol pharmacokinetics; cervical cancer; phenytoin levels; clomipramine metabolism; Psychophysiologic Disorders; malignant syndrome; leukemia, myeloid; Glaucoma; Breast Neoplasms|Hot Flashes; nomal variation; nephropathy; prostate cancer; Leukemia; Anemia, Sickle Cell|Pain|Sickle cell anemia; macular degeneration; tardive dyskinesia; leukemia, childhood acute lymphoblastic; Parkinson's Disease; cirrhosis, biliary primary; Chromosome Aberrations; Hypertension; Apnea|Opioid-Related Disorders|Pain; Haematological Neoplasias; H. pylori infection; Heart Failure; clozapine; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Chromosome Aberrations|Chromosome abnormality; Pain, Postoperative|Stomach Neoplasms; Bradycardia|Glaucoma, Open-Angle|Ocular Hypertension; agranulocytosis; ADHD | attention-deficit hyperactivity disorder; liver cancer; liver disease; methadone toxicity; lung cancer; liver cancer; Atrial Fibrillation; Perioperative genomic profiles ; preeclampsia; hypoglycemia; ulcer, gastric; repaglinide pharmacology; coagulation disorder; breast cancer; tamoxifen, prophylactic effect of; drug oxidation; extrapyramidal side effects; atrial fibrillation; amitriptyline metabolism; tamoxifen, metabolism; drug hypersensitivity; HIV Infections; Adenoma|Colorectal Neoplasms; CYP2D7/CYP2D6 poor metabolizer phenotype.; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; liver disease; Basal Ganglia Diseases|Dyskinesia, Drug-Induced; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; tramadol pharmacokinetics; Polycystic Ovary Syndrome; antidepressant medication intolerance.; poor metabolizer of CYP2D6; methamphetamine use; Pain, Postoperative; Manganese Poisoning; Leukemia, Myeloid; Birth Weight|Critical Illness; smoking behavior; Alzheimer's disease ; Coronary Artery Disease|Hypertension; Postoperative Nausea and Vomiting; Heroin Dependence|Substance-Related Disorders; seizures; thrombosis, deep vein; systemic sclerosis; miscarriage; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; normal variation; Gastroparesis; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; null; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; dementia with Lewy bodies; citalopram metabolism; Cleft Lip|Cleft Palate; Parkinson's disease; treatment resistance to typical neuroleptics; voriconazole; Nausea; systemic lupus erythematosus; Substance Withdrawal Syndrome; Hyponatremia; plasma concentrations of fluoxetine and paroxetine; multiple sclerosis; major depressive disorder; Lichen Planus, Oral; inflammatory bowel disease ; Type 2 diabetes; Alzheimer's disease; Epilepsy, Tonic-Clonic; Alzheimer's disease|Parkinson's disease; loratadine pharmacokinetics	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2D6			https://www.ncbi.nlm.nih.gov/omim/?term=124030	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2D6&submit=Quick%0D%22715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2D6	rs16947	0.640775	0.5996	0.6567	1	0	0	exonic	exonic	exonic	CYP2D6	CYP2D6	ENSG00000100197	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2D6:NM_000106:exon6:c.T886C:p.C296R,CYP2D6:NM_001025161:exon5:c.T733C:p.C245R,	CYP2D6:uc003bce.3:exon6:c.T886C:p.C296R,CYP2D6:uc003bcf.3:exon5:c.T733C:p.C245R,	UNKNOWN	Het;A>G	1617;103|80	Hom;A>G	6407;2|240
N	N	-	22	42525132	42525132	G	C	snp	synonymous SNV	C408G	V136V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CYP2D6	Cyp2d12	ENSG00000283284	cytochrome P450 family 2 subfamily D member 6	chr22:42522501-42526908	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; Parkinson's disease ; Agitation|Dyskinesia, Drug-Induced|Psychomotor Agitation; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; simvastatin treatment, efficacy and tolerability; arthritis; osteoarthritis; aging; Spondylitis, Ankylosing; Inflammation|Premature Birth; asthma; rhinitis; Autism; 9-Hydroxyrisperidone and Risperidone; fluoxetine pharmacokinetics; breast cancer; postoperative tramadol analgesia; Breast Neoplasms|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; Basal Ganglia Diseases; fatal drug intoxication; leukemia, adult acute; trimipramine pharmakokinetics; heart rate; risperidone metabolism; Breast Neoplasms|; Anemia, Sickle Cell; typical antipsychotics; Diabetes Mellitus; Neuroleptic Malignant Syndrome; CYP2D6 poor metabolizer phenotype.; lung cancer ; smoking; Multiple Chemical Sensitivity; multiple chemical sensitivity; Alzheimer's Disease; endoxifen; Atrial Fibrillation|Postoperative Complications|Tachycardia; plasma concentrations of carvedilol; personality disorders; Bone Mineral Density; Multiple Myeloma|Neoplasm Recurrence, Local; Hyperlipidemias; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; Cardiovascular Diseases; neuroleptic malignant syndrome; Muscular Diseases; Basal Ganglia Diseases|; personality; Low Back Pain; Breast Neoplasms|Mammary Neoplasms|Neoplasm Recurrence, Local; Opioid-Related Disorders|Pain; colorectal cancer; essential tremor; Infection|Inflammation|Premature Birth; patent ductus arteriosus; Amphetamine-Related Disorders|Brain Diseases, Metabolic; metoprolol; Breast Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; depression; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; efficacy and tolerability of simvastatin; bladder cancer; flecainide and paroxetine; Drug-Induced Liver Injury; Dyskinesia, Drug-Induced|Parkinsonian Disorders; Dyskinesia, Drug-Induced; HIV infection; CYP2C19 activity; CYP2D6 activitiy; multiple system atrophy; Hypertension|Pregnancy Complications, Cardiovascular; Nausea|Neoplasms|Vomiting; manganism, susceptibility to occupational chronic; CYP2D6 poor metabolizer phenotype; depressive disorder, major; Scleroderma, Diffuse|Scleroderma, Limited|Scleroderma, Systemic; Birth Weight|Fetal Growth Retardation; Amphetamine-Related Disorders; malignant melanoma; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; schizophrenia; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Porphyrias|porphyrin disorder; Dysmenorrhea; Hepatitis C, Chronic|Liver Cirrhosis; amitriptyline; nortriptyline; head and neck cancer; Asthma|; hypercholesterolemia; H. pylori infection; coagulation disorder; psychiatric disorders; breast cancer ; pharmacogenetic studies; Hypercholesterolemia|LDLC levels; Hypercholesterolemia; Depression, Postpartum|Pregnancy Complications; liver cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; citalopram; diabetes, type 2; preterm delivery; Breast Neoplasms|Mammary Neoplasms; diminished debrisoquine hydroxylase activity; CYP2D6 activitiy; Tuberculosis, Pulmonary; Stomach Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; opioid drug (tramadol) metabolite ratios; cardiovascular disease; Disorders of Excessive Somnolence|Fatigue|Gastrointestinal Diseases|Respiratory Tract Infections|Rhinitis|Urticaria|Xerostomia; Arrhythmias, Cardiac|Ventricular Premature Complexes; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lewy bodies; anticoagulant complications; treatment response in psychotic patients; Pulmonary Disease, Chronic Obstructive; Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; haloperidol, plasma; fluvoxamine toxicity; hypertension; Cardiovascular Diseases|Kidney Diseases; Schizophrenia; Body Weight; drug-related genes ; Adenoma|Pituitary Neoplasms; Human Longevity; doxepin metabolism; timolol pharmacokinetics; cervical cancer; phenytoin levels; clomipramine metabolism; Psychophysiologic Disorders; malignant syndrome; leukemia, myeloid; Glaucoma; Breast Neoplasms|Hot Flashes; nomal variation; nephropathy; prostate cancer; Leukemia; Anemia, Sickle Cell|Pain|Sickle cell anemia; macular degeneration; tardive dyskinesia; leukemia, childhood acute lymphoblastic; Parkinson's Disease; cirrhosis, biliary primary; Chromosome Aberrations; Hypertension; Apnea|Opioid-Related Disorders|Pain; Haematological Neoplasias; H. pylori infection; Heart Failure; clozapine; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Chromosome Aberrations|Chromosome abnormality; Pain, Postoperative|Stomach Neoplasms; Bradycardia|Glaucoma, Open-Angle|Ocular Hypertension; agranulocytosis; ADHD | attention-deficit hyperactivity disorder; liver cancer; liver disease; methadone toxicity; lung cancer; liver cancer; Atrial Fibrillation; Perioperative genomic profiles ; preeclampsia; hypoglycemia; ulcer, gastric; repaglinide pharmacology; coagulation disorder; breast cancer; tamoxifen, prophylactic effect of; drug oxidation; extrapyramidal side effects; atrial fibrillation; amitriptyline metabolism; tamoxifen, metabolism; drug hypersensitivity; HIV Infections; Adenoma|Colorectal Neoplasms; CYP2D7/CYP2D6 poor metabolizer phenotype.; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; liver disease; Basal Ganglia Diseases|Dyskinesia, Drug-Induced; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; tramadol pharmacokinetics; Polycystic Ovary Syndrome; antidepressant medication intolerance.; poor metabolizer of CYP2D6; methamphetamine use; Pain, Postoperative; Manganese Poisoning; Leukemia, Myeloid; Birth Weight|Critical Illness; smoking behavior; Alzheimer's disease ; Coronary Artery Disease|Hypertension; Postoperative Nausea and Vomiting; Heroin Dependence|Substance-Related Disorders; seizures; thrombosis, deep vein; systemic sclerosis; miscarriage; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; normal variation; Gastroparesis; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; null; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; dementia with Lewy bodies; citalopram metabolism; Cleft Lip|Cleft Palate; Parkinson's disease; treatment resistance to typical neuroleptics; voriconazole; Nausea; systemic lupus erythematosus; Substance Withdrawal Syndrome; Hyponatremia; plasma concentrations of fluoxetine and paroxetine; multiple sclerosis; major depressive disorder; Lichen Planus, Oral; inflammatory bowel disease ; Type 2 diabetes; Alzheimer's disease; Epilepsy, Tonic-Clonic; Alzheimer's disease|Parkinson's disease; loratadine pharmacokinetics	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2D6			https://www.ncbi.nlm.nih.gov/omim/?term=124030	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2D6&submit=Quick%0D%22715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2D6	rs1058164	0.400958	0.3929	0.4515	1	0	0	exonic	exonic	exonic	CYP2D6	CYP2D6	ENSG00000100197	synonymous SNV	synonymous SNV	unknown	CYP2D6:NM_000106:exon3:c.C408G:p.V136V,	CYP2D6:uc003bce.3:exon3:c.C408G:p.V136V,	UNKNOWN	Het;G>C	2356;146|105	Hom;G>C	7629;0|256
N	N	-	22	42525952	42525952	C	A	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs28371702	0.370008	0	0.4740	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;C>A	129;10|6	Hom;C>A	704;0|26
N	N	-	22	42526484	42526484	A	C	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs28371699	0.368411	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;A>C	36;3|2	Hom;A>C	428;0|14
N	N	-	22	42526549	42526549	C	T	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs1081000	0.692692	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;C>T	648;19|27	Hom;C>T	2312;0|50
N	N	-	22	42526561	42526561	G	T	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs28695233	0.692891	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;G>T	1321;26|34	Hom;G>T	2717;0|59
N	N	-	22	42526562	42526562	G	C	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs75276289	0.692891	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;G>C	1363;26|34	Hom;G>C	2762;0|60
N	N	-	22	42526567	42526567	G	A	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs76312385	0.692692	0.0726	0.6493	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;G>A	1444;27|36	Hom;G>A	3167;0|69
N	N	-	22	42526571	42526571	C	G	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs74644586	0.692891	0.0571	0.6540	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;C>G	1504;31|38	Hom;C>G	3302;0|74
N	N	-	22	42526573	42526573	T	G	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs1080996	0.692891	0.6167	0.6566	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;T>G	1635;34|39	Hom;T>G	3450;0|74
N	N	-	22	42526580	42526580	G	C	snp	ncRNA_intronic	 	 	 	 	NDUFA6-AS1																		rs1080995	0.692891	0	0.6719	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929829	NDUFA6-AS1	ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;G>C	1741;40|50	Hom;G>C	3603;0|85
N	N	-	22	42528851	42528851	A	C	snp	ncRNA_exonic	 	 	 	 	AC254562.1																		rs28680494	0.401158	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	LOC101929829(dist=1968),CYP2D7(dist=7363)	NDUFA6-AS1	ENSG00000227370	Na	Na	Na	Na	Na	Na	Het;A>C	374;6|10	Hom;A>C	467;0|11
N	N	-	22	42528858	42528858	C	T	snp	ncRNA_exonic	 	 	 	 	AC254562.1																		rs28439297	0.401158	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	LOC101929829(dist=1975),CYP2D7(dist=7356)	NDUFA6-AS1	ENSG00000227370	Na	Na	Na	Na	Na	Na	Het;C>T	374;6|10	Hom;C>T	467;0|11
N	N	-	22	42536211	42536211	G	A	snp	upstream;downstream	 	 	 	 	ENSG00000232710																		rs2092118	0	0	0	1	0	0	downstream	downstream	upstream;downstream	CYP2D7	CYP2D7P1	ENSG00000232710;ENSG00000205702,ENSG00000237037	Na	Na	Na	Na	Na	Na	Het;G>A	561;33|25	Hom;G>A	2108;0|77
N	N	-	22	42537597	42537597	A	G	snp	nonsynonymous SNV	T662C	L221S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CYP2D7P1																		rs1800754	0.496206	0	0.4921	1	0	0	ncRNA_exonic	exonic	exonic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	nonsynonymous SNV	unknown	Na	CYP2D7P1:uc003bci.3:exon6:c.T662C:p.L221S,CYP2D7P1:uc010gyv.3:exon4:c.T14C:p.L5S,CYP2D7P1:uc010gyx.1:exon6:c.T662C:p.L221S,	UNKNOWN	Het;A>G	1953;74|89	Hom;A>G	4383;0|162
N	N	-	22	42538029	42538029	A	G	snp	nonsynonymous SNV	T422C	L141P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CYP2D7P1																		rs1058167	0.553315	0	0.6363	1	0	0	ncRNA_exonic	exonic	exonic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	nonsynonymous SNV	unknown	Na	CYP2D7P1:uc003bci.3:exon5:c.T422C:p.L141P,CYP2D7P1:uc010gyx.1:exon5:c.T422C:p.L141P,	UNKNOWN	Het;A>G	1631;120|79	Hom;A>G	4585;1|170
N	N	-	22	42538103	42538103	T	C	snp	ncRNA_intronic	 	 	 	 	CYP2D7																		rs3021083	0.401757	0	0.4224	1	0	0	ncRNA_intronic	intronic	intronic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	Na	Na	Na	Na	Na	Het;T>C	507;30|24	Hom;T>C	1311;0|42
N	N	-	22	42538229	42538229	G	A	snp	ncRNA_intronic	 	 	 	 	CYP2D7																		rs1807314	0.683706	0	0	1	0	0	ncRNA_intronic	intronic	intronic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	Na	Na	Na	Na	Na	Het;G>A	35;1|2	Hom;G>A	118;0|4
N	N	-	22	42538618	42538618	A	G	snp	synonymous SNV	T258C	G86G	aliphatic,neutral	aliphatic,neutral	CYP2D7P1																		rs2267448	0.401358	0	0.4058	1	0	0	ncRNA_exonic	exonic	exonic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	synonymous SNV	unknown	Na	CYP2D7P1:uc003bci.3:exon4:c.T258C:p.G86G,CYP2D7P1:uc010gyx.1:exon4:c.T258C:p.G86G,	UNKNOWN	Het;A>G	2224;169|109	Hom;A>G	5296;2|187
N	N	-	22	42538669	42538669	C	T	snp	ncRNA_intronic	 	 	 	 	CYP2D7																		rs2856955	0.282947	0	0.3678	1	0	0	ncRNA_intronic	intronic	intronic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	Na	Na	Na	Na	Na	Het;C>T	2510;173|122	Hom;C>T	6120;1|229
N	N	-	22	42538704	42538704	G	T	snp	ncRNA_intronic	 	 	 	 	CYP2D7																		rs2743459	0.357827	0	0.4993	1	0	0	ncRNA_intronic	intronic	intronic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	Na	Na	Na	Na	Na	Het;G>T	2076;153|105	Hom;G>T	5421;1|199
N	N	-	22	42538897	42538897	A	G	snp	ncRNA_intronic	 	 	 	 	CYP2D7																		rs2854740	0.372804	0	0.4753	1	0	0	ncRNA_intronic	intronic	intronic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	Na	Na	Na	Na	Na	Het;A>G	1328;68|58	Hom;A>G	2832;0|96
N	N	-	22	42539623	42539623	C	A	snp	ncRNA_intronic	 	 	 	 	CYP2D7																		rs769261	0.375998	0	0.4574	1	0	0	ncRNA_intronic	intronic	intronic	CYP2D7	CYP2D7P1	ENSG00000205702	Na	Na	Na	Na	Na	Na	Het;C>A	208;6|10	Hom;C>A	711;0|25
N	N	-	22	42540551	42540551	A	G	snp	ncRNA_exonic	 	 	 	 	CYP2D7																		rs2743461	0.375599	0	0	1	0	0	ncRNA_exonic	UTR5	UTR5	CYP2D7	CYP2D7P1(uc003bci.3:c.-1059T>C,uc010gyx.1:c.-1059T>C)	ENSG00000205702(ENST00000433992:c.-86T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	3526;182|161	Hom;A>G	9039;1|323
N	N	-	22	42546447	42546447	C	T	snp	ncRNA_intronic	 	 	 	 	CYP2D8P																		rs2070904	0.534345	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CYP2D7(dist=5871),TCF20(dist=9572)	CYP2D7P1(dist=5872),TCF20(dist=9572)	ENSG00000226450	Na	Na	Na	Na	Na	Na	Het;C>T	47;6|3	Hom;C>T	281;0|9
N	N	-	22	42548954	42548954	A	G	snp	ncRNA_intronic	 	 	 	 	CYP2D8P																		rs2743468	0.563698	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CYP2D7(dist=8378),TCF20(dist=7065)	CYP2D7P1(dist=8379),TCF20(dist=7065)	ENSG00000226450	Na	Na	Na	Na	Na	Na	Het;A>G	72;5|3	Hom;A>G	142;0|4
N	N	-	22	43082478	43082478	G	C	snp	intergenic	 	 	 	 	CYB5R3	Cyb5r3	ENSG00000100243	cytochrome b5 reductase 3	chr22:43013846-43045574	This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]	Chronic renal failure|Kidney Failure, Chronic	 	Neutrophil degranulation	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008015;blood circulation;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0016126;sterol biosynthetic process;IEA|GO:0019852;L-ascorbic acid metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005811;lipid particle;IDA|GO:0005833;hemoglobin complex;TAS|GO:0016020;membrane;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004128;cytochrome-b5 reductase activity, acting on NAD(P)H;TAS|GO:0016208;AMP binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0043531;ADP binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051287;NAD binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYB5R3	https://www.uniprot.org/uniprot/P00387	https://hpo.jax.org/app/browse/search?q=CYB5R3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613213	http://www.informatics.jax.org/searchtool/Search.do?query=CYB5R3&submit=Quick%0D%2447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYB5R3	rs130386	0.447484	0	0	1	0	0	intergenic	intergenic	intergenic	CYB5R3(dist=37073),A4GALT(dist=5649)	CYB5R3(dist=37073),A4GALT(dist=5649)	ENSG00000100243(dist=36904),ENSG00000128274(dist=5649)	Na	Na	Na	Na	Na	Na	Het;G>C	152;5|7	Hom;G>C	103;0|4
N	N	-	22	43182761	43182761	C	G	snp	upstream	 	 	 	 	DQ595055																		rs5751367	0.274561	0	0	1	0	0	intergenic	upstream	ncRNA_intronic	A4GALT(dist=65885),ARFGAP3(dist=9771)	DQ595055	ENSG00000229608	Na	Na	Na	Na	Na	Na	Het;C>G	62;7|3	Hom;C>G	58;0|3
N	N	-	22	43606143	43606143	C	T	snp	synonymous SNV	G2487A	A829A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SCUBE1	Scube1	ENSG00000159307	signal peptide, CUB domain and EGF like domain containing 1	chr22:43593289-43739394	This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]	Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Glucose; Cholesterol, LDL; Cholesterol; Blood Pressure Determination	A fraction of homozygotes die neonatally with acrania and loss of brain tissue. Early skull bone defects include lack of the interparietal and supraoccipital bones and cranial vault. Affected mutant embryos show exencephaly, a thick-walled forebrain neuroepithelium and hyperplastic cranial ganglia.	Degradation of the extracellular matrix	GO:0006954;inflammatory response;NAS|GO:0007165;signal transduction;IBA|GO:0007512;adult heart development;NAS|GO:0007596;blood coagulation;NAS|GO:0009791;post-embryonic development;NAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IBA|GO:0045446;endothelial cell differentiation;NAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0051260;protein homooligomerization;IPI	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0019897;extrinsic component of plasma membrane;IDA	GO:0005509;calcium ion binding;TAS|GO:0042802;identical protein binding;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SCUBE1			https://www.ncbi.nlm.nih.gov/omim/?term=611746	http://www.informatics.jax.org/searchtool/Search.do?query=SCUBE1&submit=Quick%0D%10319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCUBE1	rs5759217	0.696486	0.6276	0.7066	1	0	0	exonic	exonic	exonic	SCUBE1	SCUBE1	ENSG00000159307	synonymous SNV	synonymous SNV	unknown	SCUBE1:NM_173050:exon19:c.G2487A:p.A829A,	SCUBE1:uc003bdt.2:exon19:c.G2487A:p.A829A,	UNKNOWN	Het;C>T	2268;88|113	Hom;C>T	4866;0|182
N	N	-	22	44292448	44292448	T	C	snp	intergenic	 	 	 	 	PNPLA5	Pnpla5	ENSG00000100341	patatin like phospholipase domain containing 5	chr22:44275558-44287893	This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]	Insulin Resistance|Obesity; Myocardial Infarction	 	Triglyceride catabolism	GO:0006629;lipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019433;triglyceride catabolic process;TAS|GO:0055088;lipid homeostasis;IBA	GO:0005737;cytoplasm;IBA|GO:0005811;lipid particle;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IBA	GO:0004806;triglyceride lipase activity;EXP|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNPLA5	https://www.uniprot.org/uniprot/Q7Z6Z6		https://www.ncbi.nlm.nih.gov/omim/?term=611589	http://www.informatics.jax.org/searchtool/Search.do?query=PNPLA5&submit=Quick%0D%2483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPLA5	rs138137	0.933506	0	0	1	0	0	intergenic	intergenic	intergenic	PNPLA5(dist=4555),PNPLA3(dist=27171)	PNPLA5(dist=4555),PNPLA3(dist=27171)	ENSG00000100341(dist=4555),ENSG00000266837(dist=8028)	Na	Na	Na	Na	Na	Na	Het;T>C	46;2|3	Hom;T>C	71;0|4
N	N	-	22	44301176	44301176	G	A	snp	upstream	 	 	 	 	ENSG00000266837																		rs4823101	0.67492	0	0	1	0	0	intergenic	intergenic	upstream	PNPLA5(dist=13283),PNPLA3(dist=18443)	PNPLA5(dist=13283),PNPLA3(dist=18443)	ENSG00000266837	Na	Na	Na	Na	Na	Na	Het;G>A	43;2|3	Hom;G>A	95;0|4
N	N	-	22	44301272	44301272	C	T	snp	upstream	 	 	 	 	ENSG00000266837																		rs6519817	0.34405	0	0	1	0	0	intergenic	intergenic	upstream	PNPLA5(dist=13379),PNPLA3(dist=18347)	PNPLA5(dist=13379),PNPLA3(dist=18347)	ENSG00000266837	Na	Na	Na	Na	Na	Na	Het;C>T	204;3|6	Hom;C>T	345;0|11
N	N	-	22	44341986	44341986	T	C	snp	intronic	 	 	 	 	PNPLA3	Pnpla3	ENSG00000100344	patatin like phospholipase domain containing 3	chr22:44319619-44360368	The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]	obesity; Alcoholic Liver Diseases|Alcoholism|Fatty Liver, Alcoholic|Liver Cirrhosis, Alcoholic|Liver Diseases, Alcoholic; Fatty Liver|; Fatty Liver; Fatty Liver|Overweight; Aspartate Aminotransferases; plasma levels of liver enzymes; Alkaline Phosphatase; Fatty Liver|Obesity; Obesity; Fatty Liver|Fibrosis; Fatty Liver|Insulin Resistance; Non-alcoholic Fatty Liver Disease; diabetes, type 2; Insulin Resistance|Obesity; Type 2 diabetes; Fatty Liver|Metabolic Syndrome X; alcohol; Fatty Liver|Liver Diseases|Obesity|Overweight; Liver Cirrhosis, Alcoholic|Liver Diseases, Alcoholic; Alanine Transaminase; liver function; Fatty Liver|Liver Cirrhosis; Diabetes Mellitus, Type 2|Fatty Liver|Metabolic Syndrome X; liver enzymes	Mice homozygous for a knock-out allele exhibit normal energy, glucose, and lipid homeostasis.	Acyl chain remodeling of DAG and TAG	GO:0006629;lipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019432;triglyceride biosynthetic process;IDA|GO:0019433;triglyceride catabolic process;IDA|GO:0036153;triglyceride acyl-chain remodeling;IDA|GO:0036155;acylglycerol acyl-chain remodeling;TAS|GO:0055088;lipid homeostasis;IBA	GO:0005737;cytoplasm;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005811;lipid particle;IBA|GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA	GO:0004465;lipoprotein lipase activity;TAS|GO:0004623;phospholipase A2 activity;IDA|GO:0004806;triglyceride lipase activity;TAS|GO:0016411;acylglycerol O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0051264;mono-olein transacylation activity;IDA|GO:0051265;diolein transacylation activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PNPLA3	https://www.uniprot.org/uniprot/Q9NST1		https://www.ncbi.nlm.nih.gov/omim/?term=609567	http://www.informatics.jax.org/searchtool/Search.do?query=PNPLA3&submit=Quick%0D%2485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPLA3	rs2294917	0.375399	0.3281	0.3487	1	0	0	intronic	intronic	intronic	PNPLA3	PNPLA3	ENSG00000100344	Na	Na	Na	Na	Na	Na	Het;T>C	410;28|16	Hom;T>C	1277;0|41
N	N	-	22	44368741	44368741	C	T	snp	intronic	 	 	 	 	SAMM50	Samm50	ENSG00000100347	SAMM50 sorting and assembly machinery component	chr22:44351301-44406411	This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]	plasma levels of liver enzymes; Coronary Disease; Type 2 Diabetes| edema | rosiglitazone; liver enzymes; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Cristae formation	GO:0033108;mitochondrial respiratory chain complex assembly;IMP|GO:0042407;cristae formation;IMP|GO:0045040;protein import into mitochondrial outer membrane;IDA	GO:0001401;mitochondrial sorting and assembly machinery complex;IMP|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0019867;outer membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SAMM50	https://www.uniprot.org/uniprot/Q9Y512		https://www.ncbi.nlm.nih.gov/omim/?term=612058	http://www.informatics.jax.org/searchtool/Search.do?query=SAMM50&submit=Quick%0D%2488ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMM50	rs932430	0.692093	0.3697	0.4814	1	0	0	intronic	intronic	intronic	SAMM50	SAMM50	ENSG00000100347	Na	Na	Na	Na	Na	Na	Het;C>T	1049;4|32	Hom;C>T	2340;0|60
N	N	-	22	44535904	44535904	G	GCTTTCTGGCTGGCTCTGTCCCTCATCCTCCA	indel	intronic	 	 	 	 	PARVB	Parvb	ENSG00000188677	parvin beta	chr22:44395091-44568829	This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Hemoglobins; Coronary Disease; Erythrocyte Count; Tobacco Use Disorder; Asthma	Disruption of this marker has no apparent adverse consequences.	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	GO:0007155;cell adhesion;IEA|GO:0030031;cell projection assembly;IMP|GO:0030032;lamellipodium assembly;IMP|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0071963;establishment or maintenance of cell polarity regulating cell shape;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PARVB			https://www.ncbi.nlm.nih.gov/omim/?term=608121	http://www.informatics.jax.org/searchtool/Search.do?query=PARVB&submit=Quick%0D%16083ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVB	rs11270419	0.810104	0	0	1	0	0	intronic	intronic	intronic	PARVB	PARVB	ENSG00000188677	Na	Na	Na	Na	Na	Na	Het;+CTTTCTGGCTGGCTCTGTCCCTCATCCTCCA	285;16|4	Hom;+CTTTCTGGCTGGCTCTGTCCCTCATCCTCCA	633;0|14
N	N	-	22	44559645	44559645	C	T	snp	intronic	 	 	 	 	PARVB	Parvb	ENSG00000188677	parvin beta	chr22:44395091-44568829	This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Hemoglobins; Coronary Disease; Erythrocyte Count; Tobacco Use Disorder; Asthma	Disruption of this marker has no apparent adverse consequences.	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	GO:0007155;cell adhesion;IEA|GO:0030031;cell projection assembly;IMP|GO:0030032;lamellipodium assembly;IMP|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0071963;establishment or maintenance of cell polarity regulating cell shape;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PARVB			https://www.ncbi.nlm.nih.gov/omim/?term=608121	http://www.informatics.jax.org/searchtool/Search.do?query=PARVB&submit=Quick%0D%16083ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVB	rs139079	0.371805	0	0	1	0	0	intronic	intronic	intronic	PARVB	PARVB	ENSG00000188677	Na	Na	Na	Na	Na	Na	Het;C>T	230;3|10	Hom;C>T	452;0|14
N	N	-	22	44559842	44559842	A	G	snp	intronic	 	 	 	 	PARVB	Parvb	ENSG00000188677	parvin beta	chr22:44395091-44568829	This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Hemoglobins; Coronary Disease; Erythrocyte Count; Tobacco Use Disorder; Asthma	Disruption of this marker has no apparent adverse consequences.	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	GO:0007155;cell adhesion;IEA|GO:0030031;cell projection assembly;IMP|GO:0030032;lamellipodium assembly;IMP|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0071963;establishment or maintenance of cell polarity regulating cell shape;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PARVB			https://www.ncbi.nlm.nih.gov/omim/?term=608121	http://www.informatics.jax.org/searchtool/Search.do?query=PARVB&submit=Quick%0D%16083ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVB	rs139081	0.461062	0.4370	0.4194	1	0	0	intronic	intronic	intronic	PARVB	PARVB	ENSG00000188677	Na	Na	Na	Na	Na	Na	Het;A>G	460;13|20	Hom;A>G	1000;0|35
N	N	-	22	44602229	44602229	A	C	snp	synonymous SNV	A919C	R307R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PARVG	Parvg	ENSG00000138964	parvin gamma	chr22:44568836-44615413	Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]		Homozygous null mice are viable and fertile with a normal life span and normal immune cell development and function.		GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0031532;actin cytoskeleton reorganization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PARVG	https://www.uniprot.org/uniprot/Q9HBI0		https://www.ncbi.nlm.nih.gov/omim/?term=608122	http://www.informatics.jax.org/searchtool/Search.do?query=PARVG&submit=Quick%0D%7822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVG	rs139186	0.73123	0.8266	0.7886	1	0	0	exonic	exonic	exonic	PARVG	PARVG	ENSG00000138964	synonymous SNV	synonymous SNV	unknown	PARVG:NM_022141:exon14:c.A919C:p.R307R,PARVG:NM_001137605:exon14:c.A919C:p.R307R,	PARVG:uc011aqe.3:exon14:c.A919C:p.R307R,PARVG:uc003bep.4:exon14:c.A919C:p.R307R,	UNKNOWN	Het;A>C	1514;49|67	Hom;A>C	3305;0|124
N	N	-	22	45075738	45075738	T	C	snp	nonsynonymous SNV	T59C	M20T	hydrophobic,neutral	polar,hydrophilic,neutral	PRR5	Prr5	ENSG00000186654	proline rich 5	chr22:45064593-45133561	This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]	Myocardial Infarction; Tobacco Use Disorder	 	Regulation of TP53 Degradation	GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0031295;T cell costimulation;TAS|GO:0038203;TORC2 signaling;IBA|GO:0048015;phosphatidylinositol-mediated signaling;TAS	GO:0005829;cytosol;TAS|GO:0031932;TORC2 complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PRR5			https://www.ncbi.nlm.nih.gov/omim/?term=609406	http://www.informatics.jax.org/searchtool/Search.do?query=PRR5&submit=Quick%0D%15688ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR5	rs763213	0.703874	0.7020	0.6918	0.20	2	10	exonic	exonic	exonic	PRR5	PRR5	ENSG00000186654	nonsynonymous SNV	nonsynonymous SNV	unknown	PRR5:NM_001198721:exon2:c.T59C:p.M20T,	PRR5:uc010gzt.1:exon2:c.T59C:p.M20T,	UNKNOWN	Het;T>C	1131;92|59	Hom;T>C	3478;0|130
N	N	-	22	45255460	45255460	G	A	snp	intronic	 	 	 	 	ARHGAP8	Arhgap8	ENSG00000241484	Rho GTPase activating protein 8	chr22:45098355-45258665	This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]	Type 2 Diabetes| edema | rosiglitazone	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP8			https://www.ncbi.nlm.nih.gov/omim/?term=609405	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP8&submit=Quick%0D%19673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP8	rs4336044	0.225639	0	0	1	0	0	intronic	intronic	intronic	ARHGAP8,PRR5-ARHGAP8	ARHGAP8,PRR5-ARHGAP8	ENSG00000241484,ENSG00000248405	Na	Na	Na	Na	Na	Na	Het;G>A	111;8|5	Hom;G>A	247;0|9
N	N	-	22	45276966	45276966	C	T	snp	downstream	 	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs5765073	0.639377	0	0	1	0	0	downstream	downstream	downstream	PHF21B	PHF21B	ENSG00000056487	Na	Na	Na	Na	Na	Na	Het;C>T	198;8|7	Hom;C>T	172;0|6
N	N	-	22	45277702	45277702	A	G	snp	UTR3	*1264T>C	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs5766149	0.636182	0	0	1	0	0	UTR3	UTR3	UTR3	PHF21B(NM_001135862:c.*1264T>C,NM_001284296:c.*1264T>C,NM_001242450:c.*1264T>C,NM_138415:c.*1264T>C)	PHF21B(uc011aqk.2:c.*1264T>C,uc003bfm.3:c.*1264T>C,uc003bfn.3:c.*1264T>C,uc011aql.2:c.*1264T>C)	ENSG00000056487(ENST00000313237:c.*1264T>C,ENST00000403565:c.*1264T>C,ENST00000396103:c.*1264T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	2337;102|106	Hom;A>G	5698;2|210
N	N	-	22	45277826	45277826	G	T	snp	UTR3	*1140C>A	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs4392353	0.638179	0	0	1	0	0	UTR3	UTR3	UTR3	PHF21B(NM_001135862:c.*1140C>A,NM_001284296:c.*1140C>A,NM_001242450:c.*1140C>A,NM_138415:c.*1140C>A)	PHF21B(uc011aqk.2:c.*1140C>A,uc003bfm.3:c.*1140C>A,uc003bfn.3:c.*1140C>A,uc011aql.2:c.*1140C>A)	ENSG00000056487(ENST00000313237:c.*1140C>A,ENST00000403565:c.*1140C>A,ENST00000396103:c.*1140C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	1495;72|67	Hom;G>T	3751;4|139
N	N	-	22	45278109	45278109	G	A	snp	UTR3	*857C>T	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs762980	0.640176	0	0	1	0	0	UTR3	UTR3	UTR3	PHF21B(NM_001135862:c.*857C>T,NM_001284296:c.*857C>T,NM_001242450:c.*857C>T,NM_138415:c.*857C>T)	PHF21B(uc011aqk.2:c.*857C>T,uc003bfm.3:c.*857C>T,uc003bfn.3:c.*857C>T,uc011aql.2:c.*857C>T)	ENSG00000056487(ENST00000313237:c.*857C>T,ENST00000403565:c.*857C>T,ENST00000396103:c.*857C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	2551;148|119	Hom;G>A	6448;0|226
N	N	-	22	45278187	45278187	A	T	snp	UTR3	*779T>A	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs730773	0.639776	0	0	1	0	0	UTR3	UTR3	UTR3	PHF21B(NM_001135862:c.*779T>A,NM_001284296:c.*779T>A,NM_001242450:c.*779T>A,NM_138415:c.*779T>A)	PHF21B(uc011aqk.2:c.*779T>A,uc003bfm.3:c.*779T>A,uc003bfn.3:c.*779T>A,uc011aql.2:c.*779T>A)	ENSG00000056487(ENST00000313237:c.*779T>A,ENST00000403565:c.*779T>A,ENST00000396103:c.*779T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	1706;106|79	Hom;A>T	4679;1|166
N	N	-	22	45278499	45278499	C	T	snp	UTR3	*467G>A	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs3810628	0.64377	0	0	1	0	0	UTR3	UTR3	UTR3	PHF21B(NM_001135862:c.*467G>A,NM_001284296:c.*467G>A,NM_001242450:c.*467G>A,NM_138415:c.*467G>A)	PHF21B(uc011aqk.2:c.*467G>A,uc003bfm.3:c.*467G>A,uc003bfn.3:c.*467G>A,uc011aql.2:c.*467G>A)	ENSG00000056487(ENST00000313237:c.*467G>A,ENST00000403565:c.*467G>A,ENST00000396103:c.*467G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1239;68|56	Hom;C>T	2872;0|101
N	N	-	22	45278712	45278712	A	G	snp	UTR3	*254T>C	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs3747223	0.644569	0	0	1	0	0	UTR3	UTR3	UTR3	PHF21B(NM_001135862:c.*254T>C,NM_001284296:c.*254T>C,NM_001242450:c.*254T>C,NM_138415:c.*254T>C)	PHF21B(uc011aqk.2:c.*254T>C,uc003bfm.3:c.*254T>C,uc003bfn.3:c.*254T>C,uc011aql.2:c.*254T>C)	ENSG00000056487(ENST00000313237:c.*254T>C,ENST00000403565:c.*254T>C,ENST00000396103:c.*254T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	990;45|46	Hom;A>G	1974;0|67
N	N	-	22	45455489	45455489	A	G	snp	intergenic	 	 	 	 	PHF21B	Phf21b	ENSG00000056487	PHD finger protein 21B	chr22:45277042-45405880		Cholesterol; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005634;nucleus;IBA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF21B	https://www.uniprot.org/uniprot/Q96EK2		https://www.ncbi.nlm.nih.gov/omim/?term=616727	http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B	rs35006348	0.166534	0	0	1	0	0	intergenic	intergenic	intergenic	PHF21B(dist=49680),NUP50-AS1(dist=74150)	PHF21B(dist=49680),LOC100506714(dist=74150)	ENSG00000056487(dist=49609),ENSG00000226328(dist=73412)	Na	Na	Na	Na	Na	Na	Het;A>G	216;23|12	Hom;A>G	708;0|26
N	N	-	22	45559631	45559631	C	G	snp	ncRNA_exonic	 	 	 	 	NUP50-AS1																		rs132847	0.575879	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	NUP50-AS1	LOC100506714	ENSG00000226328	Na	Na	Na	Na	Na	Na	Het;C>G	931;37|38	Hom;C>G	2412;0|81
N	N	-	22	45560401	45560401	A	C	snp	intronic	 	 	 	 	NUP50	Nup50	ENSG00000093000	nucleoporin 50	chr22:45559722-45583896	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Coronary Artery Disease	Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation.	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0046907;intracellular transport;IEA|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/NUP50	https://www.uniprot.org/uniprot/Q9UKX7		https://www.ncbi.nlm.nih.gov/omim/?term=604646	http://www.informatics.jax.org/searchtool/Search.do?query=NUP50&submit=Quick%0D%2211ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP50	rs477067	0.720248	0	0	1	0	0	intronic	intronic	intronic	NUP50	NUP50	ENSG00000093000	Na	Na	Na	Na	Na	Na	Het;A>C	38;2|4	Hom;A>C	315;0|13
N	N	-	22	45828091	45828092	CA	C	indel	intronic	 	 	 	 	RIBC2	Ribc2	ENSG00000128408	RIB43A domain with coiled-coils 2	chr22:45809572-45828376		Hemoglobin A, Glycosylated	 					http://www.genecards.org/index.php?path=/Search/keyword/RIBC2	https://www.uniprot.org/uniprot/Q9H4K1			http://www.informatics.jax.org/searchtool/Search.do?query=RIBC2&submit=Quick%0D%6135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIBC2	rs35724408	0.692093	0	0	1	0	0	intronic	intronic	intronic	RIBC2	RIBC2	ENSG00000128408	Na	Na	Na	Na	Na	Na	Het;-A	106;3|9	Hom;-A	214;1|13
N	N	-	22	45943203	45943203	A	G	snp	intronic	 	 	 	 	FBLN1	Fbln1	ENSG00000077942	fibulin 1	chr22:45898118-45997015	Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]	Bipolar Disorder; Congenital Heart Defects|Heart Defects, Congenital; Tobacco Use Disorder; Abortion, Habitual|Infertility, Female; Cell Adhesion Molecules	Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos.  Most die within the first two days of life.  Those that survive this period develop normally and eventually recover from their early developmental abnormalities.	Molecules associated with elastic fibres	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007566;embryo implantation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0016032;viral process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA|GO:0072378;blood coagulation, fibrin clot formation;IDA|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:2000146;negative regulation of cell motility;IDA|GO:2000647;negative regulation of stem cell proliferation;IDA	GO:0005576;extracellular region;IEA|GO:0005577;fibrinogen complex;IDA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071953;elastic fiber;IDA	GO:0001968;fibronectin binding;IPI|GO:0005201;extracellular matrix structural constituent;IDA|GO:0005509;calcium ion binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016504;peptidase activator activity;IEA|GO:0032403;protein complex binding;IPI|GO:0042802;identical protein binding;IDA|GO:0070051;fibrinogen binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBLN1	https://www.uniprot.org/uniprot/P23142	https://hpo.jax.org/app/browse/search?q=FBLN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135820	http://www.informatics.jax.org/searchtool/Search.do?query=FBLN1&submit=Quick%0D%1638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBLN1	rs739270	0.843251	0	0	1	0	0	intronic	intronic	intronic	FBLN1	FBLN1	ENSG00000077942	Na	Na	Na	Na	Na	Na	Het;A>G	130;15|7	Hom;A>G	991;0|35
N	N	-	22	46314108	46314108	A	G	snp	intergenic	 	 	 	 	BX324167.1																		rs73175043	0.117812	0	0	1	0	0	intergenic	intergenic	intergenic	ATXN10(dist=72921),WNT7B(dist=2140)	ATXN10(dist=72921),WNT7B(dist=2140)	ENSG00000235091(dist=30480),ENSG00000188064(dist=2134)	Na	Na	Na	Na	Na	Na	Het;A>G	48;2|3	Hom;A>G	171;0|8
N	N	-	22	46436332	46436332	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00899																		rs1129657	0.0954473	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00899	LINC00899	ENSG00000231711	Na	Na	Na	Na	Na	Na	Het;T>C	390;18|16	Hom;T>C	1246;1|44
N	N	-	22	46436973	46436973	T	A	snp	ncRNA_exonic	 	 	 	 	LINC00899																		rs7511186	0.391973	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00899	LINC00899	ENSG00000231711	Na	Na	Na	Na	Na	Na	Het;T>A	171;9|10	Hom;T>A	567;1|25
N	N	-	22	46439737	46439737	A	C	snp	ncRNA_exonic	 	 	 	 	LINC00899																		rs61074283	0.219848	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00899	LINC00899	ENSG00000231711	Na	Na	Na	Na	Na	Na	Het;A>C	64;8|3	Hom;A>C	234;0|7
N	N	-	22	46440273	46440273	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00899																		rs8140558	0.459465	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LINC00899	LINC00899	ENSG00000231711	Na	Na	Na	Na	Na	Na	Het;A>G	124;1|4	Hom;A>G	113;0|5
N	N	-	22	46440605	46440605	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00899																		rs1135856	0.140575	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00899	LINC00899	ENSG00000231711	Na	Na	Na	Na	Na	Na	Het;T>C	1412;68|66	Hom;T>C	3844;1|135
N	N	-	22	48073864	48073864	C	T	snp	ncRNA_intronic	 	 	 	 	AK093107																		rs132145	0.715256	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC284930	AK093107	ENSG00000224271	Na	Na	Na	Na	Na	Na	Het;C>T	88;1|5	Hom;C>T	152;0|4
N	N	-	22	48870888	48870888	G	C	snp	intergenic	 	 	 	 	Z82249.1																		rs713887	0.243211	0	0	1	0	0	intergenic	intergenic	intergenic	MIR3201(dist=200661),FAM19A5(dist=14384)	MIR3201(dist=200661),FAM19A5(dist=14400)	ENSG00000233179(dist=23859),ENSG00000219438(dist=14384)	Na	Na	Na	Na	Na	Na	Het;G>C	92;2|5	Hom;G>C	113;0|5
N	N	-	22	49103660	49103660	T	C	snp	intronic	 	 	 	 	FAM19A5	Fam19a5	ENSG00000219438	family with sequence similarity 19 member A5, C-C motif chemokine like	chr22:48885272-49246724	This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013]	Amyotrophic Lateral Sclerosis; Body Height; Hematocrit; Blood Pressure Determination; Tunica Media; Cholesterol; Hemoglobins; Tobacco Use Disorder; Pancreatic Neoplasms; Lipids; Myocardial Infarction; Hemoglobin A, Glycosylated	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM19A5			https://www.ncbi.nlm.nih.gov/omim/?term=617499	http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A5&submit=Quick%0D%18386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A5	rs132234	0.691494	0.7538	0.7062	1	0	0	intronic	intronic	intronic	FAM19A5	FAM19A5	ENSG00000219438	Na	Na	Na	Na	Na	Na	Het;T>C	1062;62|54	Hom;T>C	2694;0|100
N	N	-	22	49103824	49103837	TTCCTGACCATCTG	T	indel	intronic	 	 	 	 	FAM19A5	Fam19a5	ENSG00000219438	family with sequence similarity 19 member A5, C-C motif chemokine like	chr22:48885272-49246724	This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013]	Amyotrophic Lateral Sclerosis; Body Height; Hematocrit; Blood Pressure Determination; Tunica Media; Cholesterol; Hemoglobins; Tobacco Use Disorder; Pancreatic Neoplasms; Lipids; Myocardial Infarction; Hemoglobin A, Glycosylated	 			GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM19A5			https://www.ncbi.nlm.nih.gov/omim/?term=617499	http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A5&submit=Quick%0D%18386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A5	rs130148	0.652955	0	0	1	0	0	intronic	intronic	intronic	FAM19A5	FAM19A5	ENSG00000219438	Na	Na	Na	Na	Na	Na	Het;-TCCTGACCATCTG	195;3|6	Hom;-TCCTGACCATCTG	168;0|5
N	N	-	22	49282834	49282834	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01310																		rs62228086	0.145966	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LINC01310	LOC100128946	ENSG00000219438(dist=36110),ENSG00000205632(dist=5895)	Na	Na	Na	Na	Na	Na	Het;G>A	228;20|13	Hom;G>A	1041;0|35
N	N	-	22	49444399	49444399	C	G	snp	intergenic	 	 	 	 	LINC01310																		rs5769847	0.492812	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01310(dist=150201),NONE(dist=NONE)	LOC100128946(dist=150201),BC033837(dist=363775)	ENSG00000205632(dist=150201),ENSG00000226142(dist=165438)	Na	Na	Na	Na	Na	Na	Het;C>G	608;8|19	Hom;C>G	443;0|13
N	N	-	22	50169157	50169157	A	G	snp	intronic	 	 	 	 	BRD1	Brd1	ENSG00000100425	bromodomain containing 1	chr22:50166931-50221160	This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	Tobacco Use Disorder; schizophrenia; schizophrenia | bipolar disorder	Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis.	Regulation of TP53 Activity through Acetylation	GO:0016569;covalent chromatin modification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0051602;response to electrical stimulus;IEA	GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030425;dendrite;IEA|GO:0043204;perikaryon;IEA|GO:0070776;MOZ/MORF histone acetyltransferase complex;IDA	GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRD1	https://www.uniprot.org/uniprot/O95696		https://www.ncbi.nlm.nih.gov/omim/?term=604589	http://www.informatics.jax.org/searchtool/Search.do?query=BRD1&submit=Quick%0D%2519ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD1	rs138823	0.422324	0	0	1	0	0	intronic	intronic	intronic	BRD1	BRD1	ENSG00000100425	Na	Na	Na	Na	Na	Na	Het;A>G	80;8|4	Hom;A>G	374;0|15
N	N	-	22	50169205	50169205	G	A	snp	intronic	 	 	 	 	BRD1	Brd1	ENSG00000100425	bromodomain containing 1	chr22:50166931-50221160	This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	Tobacco Use Disorder; schizophrenia; schizophrenia | bipolar disorder	Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis.	Regulation of TP53 Activity through Acetylation	GO:0016569;covalent chromatin modification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0051602;response to electrical stimulus;IEA	GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030425;dendrite;IEA|GO:0043204;perikaryon;IEA|GO:0070776;MOZ/MORF histone acetyltransferase complex;IDA	GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRD1	https://www.uniprot.org/uniprot/O95696		https://www.ncbi.nlm.nih.gov/omim/?term=604589	http://www.informatics.jax.org/searchtool/Search.do?query=BRD1&submit=Quick%0D%2519ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD1	rs916418	0.17472	0.1337	0.0854	1	0	0	intronic	intronic	intronic	BRD1	BRD1	ENSG00000100425	Na	Na	Na	Na	Na	Na	Het;G>A	454;21|18	Hom;G>A	1143;0|41
N	N	-	22	50169421	50169421	T	C	snp	intronic	 	 	 	 	BRD1	Brd1	ENSG00000100425	bromodomain containing 1	chr22:50166931-50221160	This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	Tobacco Use Disorder; schizophrenia; schizophrenia | bipolar disorder	Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis.	Regulation of TP53 Activity through Acetylation	GO:0016569;covalent chromatin modification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0051602;response to electrical stimulus;IEA	GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030425;dendrite;IEA|GO:0043204;perikaryon;IEA|GO:0070776;MOZ/MORF histone acetyltransferase complex;IDA	GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRD1	https://www.uniprot.org/uniprot/O95696		https://www.ncbi.nlm.nih.gov/omim/?term=604589	http://www.informatics.jax.org/searchtool/Search.do?query=BRD1&submit=Quick%0D%2519ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD1	rs916419	0.222045	0.1755	0.1074	1	0	0	intronic	intronic	intronic	BRD1	BRD1	ENSG00000100425	Na	Na	Na	Na	Na	Na	Het;T>C	882;43|39	Hom;T>C	2501;0|92
N	N	-	22	50170937	50170937	G	A	snp	intronic	 	 	 	 	BRD1	Brd1	ENSG00000100425	bromodomain containing 1	chr22:50166931-50221160	This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	Tobacco Use Disorder; schizophrenia; schizophrenia | bipolar disorder	Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis.	Regulation of TP53 Activity through Acetylation	GO:0016569;covalent chromatin modification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0051602;response to electrical stimulus;IEA	GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030425;dendrite;IEA|GO:0043204;perikaryon;IEA|GO:0070776;MOZ/MORF histone acetyltransferase complex;IDA	GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRD1	https://www.uniprot.org/uniprot/O95696		https://www.ncbi.nlm.nih.gov/omim/?term=604589	http://www.informatics.jax.org/searchtool/Search.do?query=BRD1&submit=Quick%0D%2519ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD1	rs4469	0.390375	0	0	1	0	0	intronic	intronic	intronic	BRD1	BRD1	ENSG00000100425	Na	Na	Na	Na	Na	Na	Het;G>A	41;2|3	Hom;G>A	293;0|12
N	N	-	22	50192174	50192174	C	T	snp	intronic	 	 	 	 	BRD1	Brd1	ENSG00000100425	bromodomain containing 1	chr22:50166931-50221160	This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	Tobacco Use Disorder; schizophrenia; schizophrenia | bipolar disorder	Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis.	Regulation of TP53 Activity through Acetylation	GO:0016569;covalent chromatin modification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0051602;response to electrical stimulus;IEA	GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030425;dendrite;IEA|GO:0043204;perikaryon;IEA|GO:0070776;MOZ/MORF histone acetyltransferase complex;IDA	GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRD1	https://www.uniprot.org/uniprot/O95696		https://www.ncbi.nlm.nih.gov/omim/?term=604589	http://www.informatics.jax.org/searchtool/Search.do?query=BRD1&submit=Quick%0D%2519ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD1	rs6009878	0.135783	0.1056	0.0642	1	0	0	intronic	intronic	intronic	BRD1	BRD1	ENSG00000100425	Na	Na	Na	Na	Na	Na	Het;C>T	635;18|29	Hom;C>T	1592;0|60
N	N	-	22	50211295	50211295	G	A	snp	ncRNA_exonic	 	 	 	 	Z98885.1																		rs138872	0.198083	0	0	1	0	0	intronic	intronic	ncRNA_exonic	BRD1	BRD1	ENSG00000236867	Na	Na	Na	Na	Na	Na	Het;G>A	38;7|4	Hom;G>A	345;0|14
N	N	-	22	50216754	50216754	G	A	snp	synonymous SNV	C1212T	V404V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	BRD1	Brd1	ENSG00000100425	bromodomain containing 1	chr22:50166931-50221160	This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	Tobacco Use Disorder; schizophrenia; schizophrenia | bipolar disorder	Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis.	Regulation of TP53 Activity through Acetylation	GO:0016569;covalent chromatin modification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0051602;response to electrical stimulus;IEA	GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030425;dendrite;IEA|GO:0043204;perikaryon;IEA|GO:0070776;MOZ/MORF histone acetyltransferase complex;IDA	GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BRD1	https://www.uniprot.org/uniprot/O95696		https://www.ncbi.nlm.nih.gov/omim/?term=604589	http://www.informatics.jax.org/searchtool/Search.do?query=BRD1&submit=Quick%0D%2519ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD1	rs2239848	0.141174	0.1004	0.0513	1	0	0	exonic	exonic	exonic	BRD1	BRD1	ENSG00000100425	synonymous SNV	synonymous SNV	unknown	BRD1:NM_014577:exon1:c.C1212T:p.V404V,BRD1:NM_001304808:exon2:c.C1212T:p.V404V,BRD1:NM_001304809:exon2:c.C1212T:p.V404V,	BRD1:uc003biv.3:exon1:c.C1212T:p.V404V,BRD1:uc011arg.2:exon1:c.C1212T:p.V404V,BRD1:uc003biu.4:exon2:c.C1212T:p.V404V,	UNKNOWN	Het;G>A	1620;58|76	Hom;G>A	3081;2|114
N	N	-	22	50297435	50297435	T	C	snp	unknown	 	 	 	 	ALG12	Alg12	ENSG00000182858	ALG12, alpha-1,6-mannosyltransferase	chr22:50293877-50312106	This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]	Congenital disorder of glycosylation type 1G	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006457;protein folding;NAS|GO:0006486;protein glycosylation;IEA|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000009;alpha-1,6-mannosyltransferase activity;IC|GO:0000030;mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0052917;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG12		https://hpo.jax.org/app/browse/search?q=ALG12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607144	http://www.informatics.jax.org/searchtool/Search.do?query=ALG12&submit=Quick%0D%14867ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG12	rs1321	0.402157	0.3809	0.2749	1	0	0	UTR3	UTR3	exonic	ALG12(NM_024105:c.*51A>G)	ALG12(uc003biy.3:c.*51A>G)	ENSG00000182858	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	920;49|42	Hom;T>C	2043;0|72
N	N	-	22	50301476	50301476	T	C	snp	synonymous SNV	A885G	A295A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ALG12	Alg12	ENSG00000182858	ALG12, alpha-1,6-mannosyltransferase	chr22:50293877-50312106	This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]	Congenital disorder of glycosylation type 1G	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006457;protein folding;NAS|GO:0006486;protein glycosylation;IEA|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000009;alpha-1,6-mannosyltransferase activity;IC|GO:0000030;mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0052917;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG12		https://hpo.jax.org/app/browse/search?q=ALG12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607144	http://www.informatics.jax.org/searchtool/Search.do?query=ALG12&submit=Quick%0D%14867ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG12	rs8135963	0.402157	0.3834	0.2704	1	0	0	exonic	exonic	exonic	ALG12	ALG12	ENSG00000182858	synonymous SNV	synonymous SNV	unknown	ALG12:NM_024105:exon7:c.A885G:p.A295A,	ALG12:uc003biy.3:exon7:c.A885G:p.A295A,	UNKNOWN	Het;T>C	1408;69|68	Hom;T>C	3441;0|130
N	N	-	22	50302850	50302850	A	G	snp	intronic	 	 	 	 	ALG12	Alg12	ENSG00000182858	ALG12, alpha-1,6-mannosyltransferase	chr22:50293877-50312106	This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]	Congenital disorder of glycosylation type 1G	 	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	GO:0006457;protein folding;NAS|GO:0006486;protein glycosylation;IEA|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000009;alpha-1,6-mannosyltransferase activity;IC|GO:0000030;mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0052917;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALG12		https://hpo.jax.org/app/browse/search?q=ALG12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607144	http://www.informatics.jax.org/searchtool/Search.do?query=ALG12&submit=Quick%0D%14867ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG12	rs4075331	0.401957	0.3828	0.2704	1	0	0	intronic	intronic	intronic	ALG12	ALG12	ENSG00000182858	Na	Na	Na	Na	Na	Na	Het;A>G	1035;37|48	Hom;A>G	2253;0|84
N	N	-	22	50312679	50312679	A	G	snp	intronic	 	 	 	 	CRELD2	Creld2	ENSG00000184164	cysteine rich with EGF like domains 2	chr22:50311815-50321188		Marijuana Abuse	 			GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRELD2			https://www.ncbi.nlm.nih.gov/omim/?term=607171	http://www.informatics.jax.org/searchtool/Search.do?query=CRELD2&submit=Quick%0D%15146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRELD2	rs61136468	0.402356	0	0	1	0	0	intronic	intronic	intronic	CRELD2	CRELD2	ENSG00000184164	Na	Na	Na	Na	Na	Na	Het;A>G	77;7|3	Hom;A>G	238;0|7
N	N	-	22	50315952	50315952	C	T	snp	synonymous SNV	C273T	T91T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CRELD2	Creld2	ENSG00000184164	cysteine rich with EGF like domains 2	chr22:50311815-50321188		Marijuana Abuse	 			GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRELD2			https://www.ncbi.nlm.nih.gov/omim/?term=607171	http://www.informatics.jax.org/searchtool/Search.do?query=CRELD2&submit=Quick%0D%15146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRELD2	rs7410276	0.222644	0.1934	0.1756	1	0	0	exonic	exonic	exonic	CRELD2	CRELD2	ENSG00000184164	synonymous SNV	synonymous SNV	unknown	CRELD2:NM_001135101:exon6:c.C600T:p.T200T,	CRELD2:uc031ryb.1:exon6:c.C273T:p.T91T,CRELD2:uc010hal.2:exon6:c.C600T:p.T200T,	UNKNOWN	Het;C>T	953;26|30	Hom;C>T	2477;0|61
N	N	-	22	50436846	50436846	G	GTCC	indel	intronic	 	 	 	 	IL17REL		ENSG00000188263	interleukin 17 receptor E like	chr22:50432942-50451088		Colitis, Ulcerative			GO:0019221;cytokine-mediated signaling pathway;IEA	GO:0005887;integral component of plasma membrane;IBA	GO:0030368;interleukin-17 receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IL17REL			https://www.ncbi.nlm.nih.gov/omim/?term=613414	http://www.informatics.jax.org/searchtool/Search.do?query=IL17REL&submit=Quick%0D%15997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17REL	rs137844	0.928115	0	0	1	0	0	intronic	intronic	intronic	IL17REL	IL17REL	ENSG00000188263	Na	Na	Na	Na	Na	Na	Het;+TCC	263;12|8	Hom;+TCC	472;0|12
N	N	-	22	50639965	50639965	C	A	snp	unknown	 	 	 	 	SELO	Selo																	rs2272846	0.607827	0	0.6506	0.17	2	12	exonic	exonic	exonic	SELO	SELO	ENSG00000073169	unknown	unknown	unknown	UNKNOWN	UNKNOWN	UNKNOWN	Het;C>A	234;4|12	Hom;C>A	253;0|12
N	N	-	22	50874893	50874893	C	T	snp	intronic	 	 	 	 	PPP6R2	Ppp6r2	ENSG00000100239	protein phosphatase 6 regulatory subunit 2	chr22:50781733-50883514	Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]		 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2	https://www.uniprot.org/uniprot/O75170		https://www.ncbi.nlm.nih.gov/omim/?term=610877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2	rs13054572	0.212061	0.2514	0.3048	1	0	0	intronic	intronic	intronic	PPP6R2	PPP6R2	ENSG00000100239	Na	Na	Na	Na	Na	Na	Het;C>T	940;64|50	Hom;C>T	2208;0|86
N	N	-	22	50876526	50876526	C	G	snp	intronic	 	 	 	 	PPP6R2	Ppp6r2	ENSG00000100239	protein phosphatase 6 regulatory subunit 2	chr22:50781733-50883514	Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]		 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2	https://www.uniprot.org/uniprot/O75170		https://www.ncbi.nlm.nih.gov/omim/?term=610877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2	rs11091018	0.13758	0	0	1	0	0	intronic	intronic	intronic	PPP6R2	PPP6R2	ENSG00000100239	Na	Na	Na	Na	Na	Na	Het;C>G	248;9|10	Hom;C>G	1141;1|34
N	N	-	22	50878196	50878196	G	A	snp	nonsynonymous SNV	G2117A	R706K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PPP6R2	Ppp6r2	ENSG00000100239	protein phosphatase 6 regulatory subunit 2	chr22:50781733-50883514	Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]		 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2	https://www.uniprot.org/uniprot/O75170		https://www.ncbi.nlm.nih.gov/omim/?term=610877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2	rs13057311	0.19369	0.2304	0.2447	0.15	2	13	exonic	exonic	exonic	PPP6R2	PPP6R2	ENSG00000100239	nonsynonymous SNV	nonsynonymous SNV	unknown	PPP6R2:NM_001242900:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242899:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242898:exon20:c.G2195A:p.R732K,PPP6R2:NM_014678:exon19:c.G2114A:p.R705K,	PPP6R2:uc003blc.3:exon20:c.G2195A:p.R732K,PPP6R2:uc003blb.2:exon21:c.G2195A:p.R732K,PPP6R2:uc003bkz.2:exon19:c.G2114A:p.R705K,PPP6R2:uc003bld.2:exon9:c.G794A:p.R265K,PPP6R2:uc003bky.2:exon19:c.G2117A:p.R706K,PPP6R2:uc003bla.2:exon19:c.G2117A:p.R706K,	UNKNOWN	Het;G>A	1320;41|64	Hom;G>A	2126;0|83
N	N	-	22	50882590	50882590	G	A	snp	intronic	 	 	 	 	PPP6R2	Ppp6r2	ENSG00000100239	protein phosphatase 6 regulatory subunit 2	chr22:50781733-50883514	Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]		 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2	https://www.uniprot.org/uniprot/O75170		https://www.ncbi.nlm.nih.gov/omim/?term=610877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2	rs6010031	0.190495	0.2316	0.2449	1	0	0	intronic	intronic	intronic	PPP6R2	PPP6R2	ENSG00000100239	Na	Na	Na	Na	Na	Na	Het;G>A	1275;57|58	Hom;G>A	2684;0|102
N	N	-	22	50882752	50882753	CT	C	indel	UTR3	*90_*91delinsC	 	 	 	PPP6R2	Ppp6r2	ENSG00000100239	protein phosphatase 6 regulatory subunit 2	chr22:50781733-50883514	Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]		 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2	https://www.uniprot.org/uniprot/O75170		https://www.ncbi.nlm.nih.gov/omim/?term=610877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2	rs59017944	0.602835	0	0	1	0	0	UTR3	UTR3	UTR3	PPP6R2(NM_001242898:c.*76_*77delinsC,NM_001242899:c.*76_*77delinsC,NM_014678:c.*76_*77delinsC,NM_001242900:c.*90_*91delinsC)	PPP6R2(uc003blc.3:c.*76_*77delinsC,uc003bky.2:c.*90_*91delinsC,uc003bla.2:c.*76_*77delinsC,uc003bkz.2:c.*76_*77delinsC,uc003blb.2:c.*76_*77delinsC,uc003bld.2:c.*76_*77delinsC)	ENSG00000100239(ENST00000359139:c.*90_*91delinsC,ENST00000395741:c.*76_*77delinsC,ENST00000395744:c.*76_*77delinsC,ENST00000216061:c.*76_*77delinsC,ENST00000401672:c.*76_*77delinsC,ENST00000427222:c.*76_*77delinsC)	Na	Na	Na	Na	Na	Na	Het;-T	250;12|16	Hom;-T	278;0|14
N	N	-	22	50895133	50895133	A	G	snp	intronic	 	 	 	 	SBF1	Sbf1	ENSG00000100241	SET binding factor 1	chr22:50883429-50913454	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension	Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells.	RAB GEFs exchange GTP for GDP on RABs	GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF1	https://www.uniprot.org/uniprot/O95248	https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603560	http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1	rs4824117	0.619808	0.7432	0.7083	1	0	0	intronic	intronic	intronic	SBF1	SBF1	ENSG00000100241	Na	Na	Na	Na	Na	Na	Het;A>G	736;27|34	Hom;A>G	2070;0|80
N	N	-	22	50899758	50899758	G	C	snp	intronic	 	 	 	 	SBF1	Sbf1	ENSG00000100241	SET binding factor 1	chr22:50883429-50913454	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension	Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells.	RAB GEFs exchange GTP for GDP on RABs	GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF1	https://www.uniprot.org/uniprot/O95248	https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603560	http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1	rs2073280	0.278155	0	0.4462	1	0	0	intronic	intronic	intronic	SBF1	SBF1	ENSG00000100241	Na	Na	Na	Na	Na	Na	Het;G>C	862;45|40	Hom;G>C	1975;3|70
N	N	-	22	50901259	50901259	G	T	snp	intronic	 	 	 	 	SBF1	Sbf1	ENSG00000100241	SET binding factor 1	chr22:50883429-50913454	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension	Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells.	RAB GEFs exchange GTP for GDP on RABs	GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF1	https://www.uniprot.org/uniprot/O95248	https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603560	http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1	rs9617014	0.276358	0.4477	0.3852	1	0	0	intronic	intronic	intronic	SBF1	SBF1	ENSG00000100241	Na	Na	Na	Na	Na	Na	Het;G>T	731;27|37	Hom;G>T	1464;2|58
N	N	-	22	50906518	50906518	G	A	snp	intronic	 	 	 	 	SBF1	Sbf1	ENSG00000100241	SET binding factor 1	chr22:50883429-50913454	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension	Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells.	RAB GEFs exchange GTP for GDP on RABs	GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF1	https://www.uniprot.org/uniprot/O95248	https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603560	http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1	rs1983679	0.258586	0	0	1	0	0	intronic	intronic	intronic	SBF1	SBF1	ENSG00000100241	Na	Na	Na	Na	Na	Na	Het;G>A	57;7|3	Hom;G>A	238;0|7
N	N	-	22	50906917	50906917	C	A	snp	intronic	 	 	 	 	SBF1	Sbf1	ENSG00000100241	SET binding factor 1	chr22:50883429-50913454	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension	Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells.	RAB GEFs exchange GTP for GDP on RABs	GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBF1	https://www.uniprot.org/uniprot/O95248	https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603560	http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1	rs9616852	0.258986	0.3797	0.4429	1	0	0	intronic	intronic	intronic	SBF1	SBF1	ENSG00000100241	Na	Na	Na	Na	Na	Na	Het;C>A	434;29|21	Hom;C>A	1406;0|53
N	N	-	22	50944128	50944128	G	A	snp	synonymous SNV	C816T	H272H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	LMF2	Lmf2	ENSG00000100258	lipase maturation factor 2	chr22:50941376-50946135			 	Assembly of active LPL and LIPC lipase complexes		GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LMF2	https://www.uniprot.org/uniprot/Q9BU23			http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2	rs743615	0.345847	0.2943	0.3093	1	0	0	exonic	exonic	exonic	LMF2	LMF2	ENSG00000100258	synonymous SNV	synonymous SNV	unknown	LMF2:NM_033200:exon6:c.C891T:p.H297H,	LMF2:uc003blo.2:exon6:c.C816T:p.H272H,LMF2:uc003blp.2:exon6:c.C891T:p.H297H,	UNKNOWN	Het;G>A	904;41|44	Hom;G>A	1701;0|63
N	N	-	22	50987287	50987287	A	G	snp	nonsynonymous SNV	A692G	Q231R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	KLHDC7B	Klhdc7b	ENSG00000130487	kelch domain containing 7B	chr22:50986462-50989451			 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHDC7B	https://www.uniprot.org/uniprot/Q96G42			http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC7B&submit=Quick%0D%6376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC7B	rs5770886	0.420927	0.2443	0.4189	0.31	4	13	exonic	exonic	exonic	KLHDC7B	KLHDC7B	ENSG00000130487	nonsynonymous SNV	nonsynonymous SNV	unknown	KLHDC7B:NM_138433:exon1:c.A692G:p.Q231R,	KLHDC7B:uc003bmi.3:exon1:c.A692G:p.Q231R,	UNKNOWN	Het;A>G	169;7|6	Hom;A>G	1185;0|39
N	N	-	22	51007452	51007452	C	T	snp	ncRNA_exonic	 	 	 	 	CHKB-CPT1B	Chkb	ENSG00000254413	CHKB-CPT1B readthrough (NMD candidate)	chr22:51007298-51021394	The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]		Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology.		GO:0016310;phosphorylation;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA		GO:0016301;kinase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHKB-CPT1B				http://www.informatics.jax.org/searchtool/Search.do?query=CHKB-CPT1B&submit=Quick%0D%20054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHKB-CPT1B	rs15195	0.109625	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	CHKB-CPT1B	CHKB-CPT1B(uc003bmp.3:c.*61G>A),CPT1B(uc003bmk.4:c.*61G>A,uc003bml.3:c.*61G>A,uc003bmm.3:c.*315G>A,uc003bmo.3:c.*61G>A,uc011asa.2:c.*61G>A,uc003bmn.3:c.*315G>A,uc011asb.2:c.*61G>A)	ENSG00000205560(ENST00000405237:c.*61G>A,ENST00000440709:c.*61G>A,ENST00000457250:c.*61G>A,ENST00000360719:c.*315G>A,ENST00000312108:c.*61G>A,ENST00000434492:c.*61G>A),ENSG00000254413(ENST00000453634:c.*2605G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	2081;76|99	Hom;C>T	5132;0|187
N	N	-	22	51010112	51010112	G	A	snp	ncRNA_exonic	 	 	 	 	BC048192																		rs5770907	0.470847	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	intronic	CHKB-CPT1B	BC048192	ENSG00000205560,ENSG00000254413	Na	Na	Na	Na	Na	Na	Het;G>A	203;6|9	Hom;G>A	302;0|10
N	N	-	22	51010838	51010838	T	A	snp	ncRNA_exonic	 	 	 	 	BC048192																		rs8137491	0.233626	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	intronic	CHKB-CPT1B	BC048192	ENSG00000205560,ENSG00000254413	Na	Na	Na	Na	Na	Na	Het;T>A	111;17|6	Hom;T>A	598;0|21
N	N	-	22	51011376	51011376	G	C	snp	nonsynonymous SNV	C1280G	S427C	polar,hydrophilic,neutral	polar,hydrophobic,neutral	CPT1B	Cpt1b	ENSG00000205560	carnitine palmitoyltransferase 1B	chr22:51007290-51017899	The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]	Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 2; Disorders of Excessive Somnolence|; obesity; plasma HDL cholesterol (HDL-C) levels; Acquired Immunodeficiency Syndrome|Disease Progression; Leukemia, Lymphocytic, Chronic, B-Cell; left ventricular hypertrophy; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; Narcolepsy; narcolepsy	Homozygous null mice die in utero prior to E9.5.  Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected.	Signaling by Retinoic Acid	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0006810;transport;IEA|GO:0006853;carnitine shuttle;TAS|GO:0015909;long-chain fatty acid transport;IEA	GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004095;carnitine O-palmitoyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPT1B			https://www.ncbi.nlm.nih.gov/omim/?term=601987	http://www.informatics.jax.org/searchtool/Search.do?query=CPT1B&submit=Quick%0D%17532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPT1B	rs8142477	0.422923	0.2687	0.2447	0.15	2	13	exonic	exonic	exonic	CPT1B	CHKB-CPT1B,CPT1B	ENSG00000205560	nonsynonymous SNV	nonsynonymous SNV	unknown	CPT1B:NM_001145135:exon11:c.C1280G:p.S427C,CPT1B:NM_001145137:exon10:c.C1280G:p.S427C,CPT1B:NM_152246:exon11:c.C1280G:p.S427C,CPT1B:NM_004377:exon11:c.C1280G:p.S427C,CPT1B:NM_152245:exon11:c.C1280G:p.S427C,CPT1B:NM_001145134:exon10:c.C1178G:p.S393C,	CPT1B:uc011asa.2:exon10:c.C1178G:p.S393C,CPT1B:uc003bmk.4:exon10:c.C1280G:p.S427C,CPT1B:uc003bmo.3:exon11:c.C1280G:p.S427C,CPT1B:uc003bml.3:exon11:c.C1280G:p.S427C,CHKB-CPT1B:uc003bmp.3:exon13:c.C671G:p.S224C,CPT1B:uc003bmm.3:exon11:c.C1280G:p.S427C,CPT1B:uc003bmn.3:exon11:c.C1280G:p.S427C,	UNKNOWN	Het;G>C	589;38|32	Hom;G>C	2132;2|77
N	N	-	22	51015557	51015557	C	T	snp	ncRNA_intronic	 	 	 	 	CHKB-CPT1B	Chkb	ENSG00000254413	CHKB-CPT1B readthrough (NMD candidate)	chr22:51007298-51021394	The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]		Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology.		GO:0016310;phosphorylation;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA		GO:0016301;kinase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHKB-CPT1B				http://www.informatics.jax.org/searchtool/Search.do?query=CHKB-CPT1B&submit=Quick%0D%20054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHKB-CPT1B	rs3752393	0.253594	0	0	1	0	0	ncRNA_intronic	intronic	intronic	CHKB-CPT1B	CHKB-CPT1B,CPT1B	ENSG00000205560,ENSG00000254413	Na	Na	Na	Na	Na	Na	Het;C>T	275;9|11	Hom;C>T	682;1|23
N	N	-	22	51016098	51016098	A	G	snp	ncRNA_intronic	 	 	 	 	CHKB-CPT1B	Chkb	ENSG00000254413	CHKB-CPT1B readthrough (NMD candidate)	chr22:51007298-51021394	The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]		Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology.		GO:0016310;phosphorylation;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA		GO:0016301;kinase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHKB-CPT1B				http://www.informatics.jax.org/searchtool/Search.do?query=CHKB-CPT1B&submit=Quick%0D%20054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHKB-CPT1B	rs5770916	0.282947	0	0	1	0	0	ncRNA_intronic	intronic	intronic	CHKB-CPT1B	CHKB-CPT1B,CPT1B	ENSG00000205560,ENSG00000254413	Na	Na	Na	Na	Na	Na	Het;A>G	270;7|10	Hom;A>G	348;0|9
N	N	-	22	51017514	51017514	C	G	snp	ncRNA_exonic	 	 	 	 	CHKB-CPT1B	Chkb	ENSG00000254413	CHKB-CPT1B readthrough (NMD candidate)	chr22:51007298-51021394	The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]		Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology.		GO:0016310;phosphorylation;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA		GO:0016301;kinase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHKB-CPT1B				http://www.informatics.jax.org/searchtool/Search.do?query=CHKB-CPT1B&submit=Quick%0D%20054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHKB-CPT1B	rs17001634	0.0690895	0	0	1	0	0	ncRNA_exonic	UTR5;UTR3	UTR5;UTR3	CHKB-CPT1B	CHKB-CPT1B(uc003bmp.3:c.-2798G>C);CHKB(uc003bmt.2:c.*96G>C,uc003bmu.3:c.*96G>C,uc003bmv.3:c.*96G>C)	ENSG00000205560(ENST00000434492:c.-2798G>C);ENSG00000100288(ENST00000406938:c.*96G>C),ENSG00000254413(ENST00000453634:c.*96G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	598;19|27	Hom;C>G	2192;1|80
N	N	-	22	51025326	51025326	A	G	snp	ncRNA_exonic	 	 	 	 	CHKB-AS1																		rs62239540	0.0710863	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	CHKB-AS1	CHKB-AS1(dist=2971),MAPK8IP2(dist=13805)	ENSG00000205559(dist=3020),ENSG00000272940(dist=10255)	Na	Na	Na	Na	Na	Na	Het;A>G	1547;89|79	Hom;A>G	3606;1|138
N	N	-	22	51025391	51025391	T	C	snp	ncRNA_intronic	 	 	 	 	CHKB-AS1																		rs62239541	0.0710863	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	CHKB-AS1	CHKB-AS1(dist=3036),MAPK8IP2(dist=13740)	ENSG00000205559(dist=3085),ENSG00000272940(dist=10190)	Na	Na	Na	Na	Na	Na	Het;T>C	1103;62|55	Hom;T>C	2618;2|99
N	N	-	22	51025469	51025469	G	T	snp	ncRNA_intronic	 	 	 	 	CHKB-AS1																		rs62239542	0.0710863	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	CHKB-AS1	CHKB-AS1(dist=3114),MAPK8IP2(dist=13662)	ENSG00000205559(dist=3163),ENSG00000272940(dist=10112)	Na	Na	Na	Na	Na	Na	Het;G>T	458;20|22	Hom;G>T	909;1|33
N	N	-	22	51025490	51025490	C	T	snp	ncRNA_intronic	 	 	 	 	CHKB-AS1																		rs59934938	0.0710863	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	CHKB-AS1	CHKB-AS1(dist=3135),MAPK8IP2(dist=13641)	ENSG00000205559(dist=3184),ENSG00000272940(dist=10091)	Na	Na	Na	Na	Na	Na	Het;C>T	214;18|10	Hom;C>T	712;1|24
N	N	-	2	101768104	101768104	T	C	snp	upstream	 	 	 	 	BC077729																		rs13392166	0.638978	0	0	1	0	0	upstream	upstream	upstream	TBC1D8	BC077729,TBC1D8	ENSG00000204634,ENSG00000272902	Na	Na	Na	Na	Na	Na	Het;T>C	389;2|17	Hom;T>C	275;0|10
N	N	-	2	10262920	10262920	T	G	snp	nonsynonymous SNV	T175G	S59A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	RRM2	Rrm2	ENSG00000171848	ribonucleotide reductase regulatory subunit M2	chr2:10262455-10271545	This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]	Abortion, Spontaneous	 	Activation of E2F1 target genes at G1/S	GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;IEA|GO:0009262;deoxyribonucleotide metabolic process;IEA|GO:0009263;deoxyribonucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0051259;protein oligomerization;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005971;ribonucleoside-diphosphate reductase complex;IEA	GO:0004748;ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor;IEA|GO:0005515;protein binding;IPI|GO:0008199;ferric iron binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RRM2			https://www.ncbi.nlm.nih.gov/omim/?term=180390	http://www.informatics.jax.org/searchtool/Search.do?query=RRM2&submit=Quick%0D%13026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRM2	rs1130609	0.651757	0.7736	0.7160	0.20	2	10	exonic	exonic	exonic	RRM2	RRM2	ENSG00000171848	nonsynonymous SNV	nonsynonymous SNV	unknown	RRM2:NM_001165931:exon1:c.T175G:p.S59A,	RRM2:uc021vdr.1:exon1:c.T175G:p.S59A,	UNKNOWN	Het;T>G	769;40|38	Hom;T>G	2363;2|87
N	N	-	2	10264057	10264057	T	C	snp	intronic	 	 	 	 	RRM2	Rrm2	ENSG00000171848	ribonucleotide reductase regulatory subunit M2	chr2:10262455-10271545	This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]	Abortion, Spontaneous	 	Activation of E2F1 target genes at G1/S	GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;IEA|GO:0009262;deoxyribonucleotide metabolic process;IEA|GO:0009263;deoxyribonucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0051259;protein oligomerization;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005971;ribonucleoside-diphosphate reductase complex;IEA	GO:0004748;ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor;IEA|GO:0005515;protein binding;IPI|GO:0008199;ferric iron binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RRM2			https://www.ncbi.nlm.nih.gov/omim/?term=180390	http://www.informatics.jax.org/searchtool/Search.do?query=RRM2&submit=Quick%0D%13026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRM2	rs6432065	0.65635	0	0	1	0	0	intronic	intronic	intronic	RRM2	RRM2	ENSG00000171848	Na	Na	Na	Na	Na	Na	Het;T>C	432;17|20	Hom;T>C	714;0|24
N	N	-	2	102785158	102785158	G	T	snp	intronic	 	 	 	 	IL1R1	Il1r1	ENSG00000115594	interleukin 1 receptor type 1	chr2:102681004-102796334	This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]	Alzheimer's disease ; thromboembolism, venous; bone mass; bone loss; metabolism disorders; Scleroderma, Systemic; Inflammation|Premature Birth; bladder cancer; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Q fever; Occupational Diseases|Osteoarthritis; Alcoholism; irritable bowel syndrome; interstitial lung diseases; bone density; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; arthritis; Coronary Disease|Coronary heart disease|Recurrence; Infection|Inflammation|Premature Birth; Cystic Fibrosis; Endometriosis; Seizures, Febrile; dengue hemorrhagic fever; graft-versus-host disease; Graves Disease|Graves' Disease; multiple sclerosis; benzene haematotoxicity; Lymphoproliferative Disorders; null; Arthritis, Rheumatoid|Rheumatoid Arthritis; Alzheimer's disease; restenosis; allograft rejection, heart; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; paratyphoid feber typhoid fever; sepsis; Gout; Total IgE; Graft vs Host Disease|Hematologic Diseases; Coronary Restenosis|Coronary Stenosis; lung cancer ; Coronary Artery Disease; Meningococcal Infections; kidney transplant complications; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; schizophrenia; arthritis, rheumatoid; Alzheimer's Disease; diabetes, type 1; Sjogren's syndrome; normal variation; renal transplantation, rejection after; Osteolysis|Prosthesis Failure; Multiple Myeloma; Hypercholesterolemia|LDLC levels; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; ankylosing spondylitis; HIV Seropositivity; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Chronic ulcerative colitis|Colitis, Ulcerative; diabetes, type 1; IL-1RI; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Sarcoidosis; Hepatitis B; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; periodontitis; ovarian cancer; Degenerative arthropathy |Osteoarthritis; Osteoarthritis, Knee; Hodgkin lymphoma; obesity; ulcerative colitis; inflammatory bowel disease; Blood Cells; thryoiditis, subacute granulomatous; Crohn's disease; Brain Ischemia|Stroke; hypertension; Lung Diseases, Obstructive|Scleroderma, Systemic|Systemic Scleroderma; lung cancer; Infection|Postoperative Complications; cardiovascular disease; periodontal disease; Urinary Calculi; Common Variable Immunodeficiency; Hemorrhagic Fever with Renal Syndrome; coronary artery disease; osteoarthritis; Asthma|; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; epithelial ovarian cancer ; Graves Ophthalmopathy; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; fat mass; Tuberculosis; Acquired Immunodeficiency Syndrome; Bone Mineral Density; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; juvenile arthritis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; longevity; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leptospirosis|Swamp fever; Arthritis, Psoriatic|Psoriasis|Psoriatic arthropathy; Bone mineral mass; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Pulmonary Fibrosis|Sarcoidosis, Pulmonary; desensitization in solid organ transplant recipients ; pulmonary fibrosis; pemphigus vulgaris; atherosclerosis; H. pylori infection; stomach cancer; Intervertebral Disk Displacement; obesity|asthma; Anemia|Malaria, Cerebral|Malaria, Falciparum|Parasitemia; nephropathy, IgA	Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoritinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity.	Interleukin-10 signaling	GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0070498;interleukin-1-mediated signaling pathway;IEA|GO:0070555;response to interleukin-1;IDA|GO:2000391;positive regulation of neutrophil extravasation;IEA|GO:2000661;positive regulation of interleukin-1-mediated signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0002020;protease binding;IEA|GO:0004871;signal transducer activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004908;interleukin-1 receptor activity;IEA|GO:0004909;interleukin-1, Type I, activating receptor activity;IEA|GO:0005161;platelet-derived growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019966;interleukin-1 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL1R1	https://www.uniprot.org/uniprot/P14778		https://www.ncbi.nlm.nih.gov/omim/?term=147810	http://www.informatics.jax.org/searchtool/Search.do?query=IL1R1&submit=Quick%0D%4631ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL1R1	rs3213735	0.347444	0.1323	0.3188	1	0	0	intronic	intronic	intronic	IL1R1	IL1R1	ENSG00000115594	Na	Na	Na	Na	Na	Na	Het;G>T	362;14|17	Hom;G>T	956;2|39
N	N	-	2	102792760	102792760	A	G	snp	ncRNA_intronic	 	 	 	 	AC007271.1																		rs3917318	0.371406	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IL1R1	IL1R1	ENSG00000226925	Na	Na	Na	Na	Na	Na	Het;A>G	315;12|12	Hom;A>G	777;0|23
N	N	-	2	10282147	10282147	T	C	snp	intronic	 	 	 	 	C2orf48																		rs11896140	0.486821	0.6060	0	1	0	0	intronic	intronic	intronic	C2orf48	C2orf48	ENSG00000163009	Na	Na	Na	Na	Na	Na	Het;T>C	676;42|32	Hom;T>C	974;0|34
N	N	-	2	103281540	103281540	G	GT	indel	intronic	 	 	 	 	SLC9A2	Slc9a2	ENSG00000115616	solute carrier family 9 member A2	chr2:103236166-103327777	This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]	hypertension; Tobacco Use Disorder	Gastric acid secretion is impaired in homozygous mutant mice. The gastric mucosa becomes inflamed and exhibits an altered cellular composition. Mutant mice do not breed well.	Sodium/Proton exchangers	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006885;regulation of pH;IEA|GO:0008104;protein localization;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IBA|GO:0098719;sodium ion import across plasma membrane;IBA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0015385;sodium:proton antiporter activity;TAS|GO:0015386;potassium:proton antiporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC9A2	https://www.uniprot.org/uniprot/Q9UBY0		https://www.ncbi.nlm.nih.gov/omim/?term=600530	http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A2&submit=Quick%0D%4637ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A2	rs35151143	0	0.2131	0.2551	1	0	0	intronic	intronic	intronic	SLC9A2	SLC9A2	ENSG00000115616	Na	Na	Na	Na	Na	Na	Het;+T	407;35|28	Hom;+T	1158;6|55
N	N	-	2	10544452	10544452	A	T	snp	intronic	 	 	 	 	HPCAL1	Hpcal1	ENSG00000115756	hippocalcin like 1	chr2:10443015-10567743	The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]	Magnesium; Hematocrit; hypertension; Hemoglobins	 			GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HPCAL1	https://www.uniprot.org/uniprot/P37235		https://www.ncbi.nlm.nih.gov/omim/?term=600207	http://www.informatics.jax.org/searchtool/Search.do?query=HPCAL1&submit=Quick%0D%4653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPCAL1	rs3771140	0.737021	0	0	1	0	0	intronic	intronic	intronic	HPCAL1	HPCAL1	ENSG00000115756	Na	Na	Na	Na	Na	Na	Het;A>T	41;6|4	Hom;A>T	67;0|4
N	N	-	2	105883624	105883652	TTTCCATGTACATTCATAGAGCCTGGTCA	T	indel	UTR3	*216_*188delinsA	 	 	 	TGFBRAP1	Tgfbrap1	ENSG00000135966	transforming growth factor beta receptor associated protein 1	chr2:105880871-105946491	This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]	Acquired Immunodeficiency Syndrome|HIV Seropositivity; Acquired Immunodeficiency Syndrome; AIDS; hepatitis C, chronic; Tobacco Use Disorder	 		GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0007165;signal transduction;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0016020;membrane;IDA|GO:0033263;CORVET complex;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005160;transforming growth factor beta receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TGFBRAP1	https://www.uniprot.org/uniprot/Q8WUH2		https://www.ncbi.nlm.nih.gov/omim/?term=606237	http://www.informatics.jax.org/searchtool/Search.do?query=TGFBRAP1&submit=Quick%0D%7259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFBRAP1	rs531353194	0.798522	0	0	1	0	0	UTR3	UTR3	UTR3	TGFBRAP1(NM_001142621:c.*216_*188delinsA,NM_004257:c.*216_*188delinsA)	TGFBRAP1(uc010fjc.3:c.*216_*188delinsA,uc002tcq.3:c.*216_*188delinsA,uc002tcr.4:c.*216_*188delinsA)	ENSG00000135966(ENST00000393359:c.*216_*188delinsA,ENST00000258449:c.*216_*188delinsA)	Na	Na	Na	Na	Na	Na	Het;-TTCCATGTACATTCATAGAGCCTGGTCA	2510;117|73	Hom;-TTCCATGTACATTCATAGAGCCTGGTCA	7162;2|170
N	N	-	2	105953938	105953938	G	GC	indel	unknown	 	 	 	 	C2orf49	AI597479	ENSG00000135974	chromosome 2 open reading frame 49	chr2:105953816-105965668			 	tRNA processing in the nucleus	GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0008150;biological_process;ND|GO:0048598;embryonic morphogenesis;IEA	GO:0005654;nucleoplasm;TAS|GO:0072669;tRNA-splicing ligase complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C2orf49	https://www.uniprot.org/uniprot/Q9BVC5			http://www.informatics.jax.org/searchtool/Search.do?query=C2orf49&submit=Quick%0D%7263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf49	rs3217439	0.770767	0	0.7650	1	0	0	UTR5	upstream	exonic	C2orf49(NM_024093:c.-107G>GC,NM_001286537:c.-107G>GC)	C2orf49	ENSG00000135974	Na	Na	unknown	Na	Na	UNKNOWN	Het;+C	141;3|5	Hom;+C	488;0|13
N	N	-	2	10595534	10595534	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101929715																		rs6721235	0.1877	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101929715	ODC1(dist=7081),NOL10(dist=115358)	ENSG00000217258	Na	Na	Na	Na	Na	Na	Het;T>C	786;29|32	Hom;T>C	1941;0|67
N	N	-	2	106992952	106992952	A	G	snp	ncRNA_exonic	 	 	 	 	AC114755.5																		rs4641931	0.69369	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UXS1(dist=182157),PLGLA(dist=5618)	UXS1(dist=182157),PLGLA(dist=5618)	ENSG00000235486	Na	Na	Na	Na	Na	Na	Het;A>G	975;46|47	Hom;A>G	3207;0|71
N	N	-	2	106998377	106998377	G	A	snp	upstream	 	 	 	 	PLGLA																		rs10169094	0.694489	0	0	1	0	0	upstream	upstream	upstream	PLGLA	PLGLA	ENSG00000240935	Na	Na	Na	Na	Na	Na	Het;G>A	71;2|3	Hom;G>A	112;0|4
N	N	-	2	107554883	107554883	T	C	snp	intergenic	 	 	 	 	ST6GAL2	St6gal2	ENSG00000144057	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	chr2:107418056-107503564	This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]	Celiac Disease|; Body Weights and Measures; Myocardial Infarction; schizophrenia; longevity; Coronary Artery Disease; Tobacco Use Disorder	 	Sialic acid metabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006486;protein glycosylation;IEA|GO:0007275;multicellular organism development;NAS|GO:0009311;oligosaccharide metabolic process;IDA|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0040007;growth;NAS|GO:0097503;sialylation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0003835;beta-galactoside alpha-2,6-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST6GAL2	https://www.uniprot.org/uniprot/Q96JF0		https://www.ncbi.nlm.nih.gov/omim/?term=608472	http://www.informatics.jax.org/searchtool/Search.do?query=ST6GAL2&submit=Quick%0D%8563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST6GAL2	rs183679767	0.000798722	0	0	1	0	0	intergenic	intergenic	intergenic	ST6GAL2(dist=51320),MIR548AU(dist=211238)	ST6GAL2(dist=51320),LOC729121(dist=884637)	ENSG00000144057(dist=51319),ENSG00000229360(dist=2453)	Na	Na	Na	Na	Na	Na	Het;T>C	50;1|3	Hom;T>C	332;0|12
N	N	-	2	107556775	107556775	T	C	snp	downstream	 	 	 	 	PPP1R2P5																		rs13018657	0.426717	0	0	1	0	0	intergenic	intergenic	downstream	ST6GAL2(dist=53212),MIR548AU(dist=209346)	ST6GAL2(dist=53212),LOC729121(dist=882745)	ENSG00000229360	Na	Na	Na	Na	Na	Na	Het;T>C	1312;44|57	Hom;T>C	3373;2|122
N	N	-	2	107557712	107557712	G	A	snp	ncRNA_exonic	 	 	 	 	PPP1R2P5																		rs12993155	0.428315	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ST6GAL2(dist=54149),MIR548AU(dist=208409)	ST6GAL2(dist=54149),LOC729121(dist=881808)	ENSG00000229360	Na	Na	Na	Na	Na	Na	Het;G>A	314;13|15	Hom;G>A	852;0|32
N	N	-	2	108065630	108065630	A	G	snp	ncRNA_intronic	 	 	 	 	LINC01885																		rs266202	0.577476	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR548AU(dist=99649),GACAT1(dist=304938)	ST6GAL2(dist=562067),LOC729121(dist=373890)	ENSG00000237880	Na	Na	Na	Na	Na	Na	Het;A>G	1345;32|35	Hom;A>G	2672;0|60
N	N	-	2	108065635	108065635	A	AATG	indel	ncRNA_intronic	 	 	 	 	LINC01885																		rs113311385	0.700479	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR548AU(dist=99654),GACAT1(dist=304933)	ST6GAL2(dist=562072),LOC729121(dist=373885)	ENSG00000237880	Na	Na	Na	Na	Na	Na	Het;+ATG	1375;33|36	Hom;+ATG	2757;0|60
N	N	-	2	108116099	108116099	G	T	snp	ncRNA_intronic	 	 	 	 	LINC01885																		rs266160	0.578874	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR548AU(dist=150118),GACAT1(dist=254469)	ST6GAL2(dist=612536),LOC729121(dist=323421)	ENSG00000237880	Na	Na	Na	Na	Na	Na	Het;G>T	599;40|34	Hom;G>T	1308;1|53
N	N	-	2	108537335	108537335	A	G	snp	ncRNA_exonic	 	 	 	 	AC009963.3																		rs2114633	0.710264	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RGPD4(dist=28335),SLC5A7(dist=65635)	RGPD4(dist=28335),SLC5A7(dist=65660)	ENSG00000235325	Na	Na	Na	Na	Na	Na	Het;A>G	37;5|3	Hom;A>G	96;0|4
N	N	-	2	108910917	108910917	A	ATCTCTCCTTCCTCTTTTCTCTCTCCCTCCC	indel	intronic	 	 	 	 	SULT1C2	Sult1c2	ENSG00000198203	sulfotransferase family 1C member 2	chr2:108905095-108926371	Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Hearing Loss; drug-related genes ; leukemia, acute myeloblastic	 	Cytosolic sulfonation of small molecules	GO:0009308;amine metabolic process;TAS|GO:0050427;3'-phosphoadenosine 5'-phosphosulfate metabolic process;TAS|GO:0051923;sulfation;IDA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004062;aryl sulfotransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008146;sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SULT1C2			https://www.ncbi.nlm.nih.gov/omim/?term=602385	http://www.informatics.jax.org/searchtool/Search.do?query=SULT1C2&submit=Quick%0D%16845ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SULT1C2	rs150794821	0.435104	0	0	1	0	0	intronic	intronic	intronic	SULT1C2	SULT1C2	ENSG00000198203	Na	Na	Na	Na	Na	Na	Het;+TCTCTCCTTCCTCTTTTCTCTCTCCCTCCC	78;9|4	Hom;+TCTCTCCTTCCTCTTTTCTCTCTCCCTCCC	903;0|21
N	N	-	2	109150858	109150859	TC	T	indel	UTR5	-161_-160delinsT	 	 	 	LIMS1	Lims1	ENSG00000169756	LIM zinc finger domain containing 1	chr2:109150857-109303702	The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]		Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5.  E5.5 null embryos exhibit decreased cell proliferation and excessive cell death.	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	GO:0007569;cell aging;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0034329;cell junction assembly;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045184;establishment of protein localization;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IMP|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIMS1			https://www.ncbi.nlm.nih.gov/omim/?term=602567	http://www.informatics.jax.org/searchtool/Search.do?query=LIMS1&submit=Quick%0D%12560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS1	Na	0	0	0	1	0	0	UTR5	UTR5	UTR5	LIMS1(NM_001193483:c.-161_-160delinsT)	LIMS1(uc002tel.3:c.-161_-160delinsT)	ENSG00000169756(ENST00000544547:c.-161_-160delinsT)	Na	Na	Na	Na	Na	Na	Het;-C	43;1|3	Hom;-C	115;0|5
N	N	-	2	109288685	109288685	T	C	snp	intronic	 	 	 	 	LIMS1	Lims1	ENSG00000169756	LIM zinc finger domain containing 1	chr2:109150857-109303702	The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]		Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5.  E5.5 null embryos exhibit decreased cell proliferation and excessive cell death.	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	GO:0007569;cell aging;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0034329;cell junction assembly;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045184;establishment of protein localization;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IMP|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIMS1			https://www.ncbi.nlm.nih.gov/omim/?term=602567	http://www.informatics.jax.org/searchtool/Search.do?query=LIMS1&submit=Quick%0D%12560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS1	rs1365920	0	0	0	1	0	0	intronic	intronic	intronic	LIMS1	LIMS1	ENSG00000169756	Na	Na	Na	Na	Na	Na	Het;T>C	87;2|5	Hom;T>C	228;0|11
N	N	-	2	109808089	109808089	A	G	snp	intronic	 	 	 	 	SH3RF3	Sh3rf3	ENSG00000172985	SH3 domain containing ring finger 3	chr2:109745804-110262207		Tobacco Use Disorder	 				GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3RF3				http://www.informatics.jax.org/searchtool/Search.do?query=SH3RF3&submit=Quick%0D%13271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3RF3	rs6542801	0.849241	0	0	1	0	0	intronic	intronic	intronic	SH3RF3	SH3RF3	ENSG00000172985	Na	Na	Na	Na	Na	Na	Het;A>G	374;60|24	Hom;A>G	1634;2|62
N	N	-	2	11003013	11003015	TAG	T	indel	intergenic	 	 	 	 	AC092687.1																		rs139351802	0	0	0	1	0	0	intergenic	intergenic	intergenic	PDIA6(dist=24910),LOC101929733(dist=15378)	PDIA6(dist=24910),KCNF1(dist=49048)	ENSG00000232056(dist=7932),ENSG00000270488(dist=11402)	Na	Na	Na	Na	Na	Na	Het;-AG	173;14|6	Hom;-AG	1670;0|38
N	N	-	2	112187041	112187041	A	G	snp	ncRNA_exonic	 	 	 	 	MIR4435-1HG																		rs1045267	0.623203	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4435-1HG	LOC541471	ENSG00000172965	Na	Na	Na	Na	Na	Na	Het;A>G	1485;129|68	Hom;A>G	4144;0|139
N	N	-	2	112302899	112302899	A	G	snp	intergenic	 	 	 	 	AC017002.3																		rs79218703	0.455072	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4435-1HG(dist=50207),ANAPC1(dist=222315)	AX747531(dist=44314),ANAPC1(dist=222315)	ENSG00000240350(dist=34332),ENSG00000271635(dist=13091)	Na	Na	Na	Na	Na	Na	Het;A>G	98;15|6	Hom;A>G	336;0|11
N	N	-	2	11245507	11245507	T	C	snp	ncRNA_exonic	 	 	 	 	FLJ33534																		rs7421355	0.859824	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ33534	FLJ33534(uc002rba.2:c.*237A>G)	ENSG00000145063	Na	Na	Na	Na	Na	Na	Het;T>C	2552;89|110	Hom;T>C	3967;0|141
N	N	-	2	112588751	112588751	C	T	snp	intronic	 	 	 	 	ANAPC1	Anapc1	ENSG00000153107	anaphase promoting complex subunit 1	chr2:112523848-112642267	This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IEA|GO:0005829;cytosol;TAS		http://www.genecards.org/index.php?path=/Search/keyword/ANAPC1	https://www.uniprot.org/uniprot/Q9H1A4		https://www.ncbi.nlm.nih.gov/omim/?term=608473	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC1&submit=Quick%0D%9629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC1	rs7587482	0.563299	0	0	1	0	0	intronic	intronic	intronic	ANAPC1	ANAPC1	ENSG00000153107	Na	Na	Na	Na	Na	Na	Het;C>T	133;1|5	Hom;C>T	220;0|7
N	N	-	2	11295867	11295867	G	C	snp	intronic	 	 	 	 	PQLC3	Pqlc3	ENSG00000162976	PQ loop repeat containing 3	chr2:11295324-11319000			 		GO:0006488;dolichol-linked oligosaccharide biosynthetic process;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PQLC3				http://www.informatics.jax.org/searchtool/Search.do?query=PQLC3&submit=Quick%0D%10847ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC3	rs7598570	0.814696	0	0.7578	1	0	0	intronic	intronic	intronic	PQLC3	PQLC3	ENSG00000162976	Na	Na	Na	Na	Na	Na	Het;G>C	184;6|9	Hom;G>C	428;0|17
N	N	-	2	113403662	113403662	T	C	snp	UTR5	-744T>C	 	 	 	SLC20A1	Slc20a1	ENSG00000144136	solute carrier family 20 member 1	chr2:113403434-113421404	The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]	left ventricular function; breast cancer; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit mid-gestation lethality associated with abnormal vitelline vasculature, growth retardation, and anemia.	Sodium-coupled phosphate cotransporters	GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006817;phosphate ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0035435;phosphate ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0044341;sodium-dependent phosphate transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IMP|GO:0004872;receptor activity;TAS|GO:0005315;inorganic phosphate transmembrane transporter activity;IEA|GO:0005316;high-affinity inorganic phosphate:sodium symporter activity;IEA|GO:0005436;sodium:phosphate symporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0015321;sodium-dependent phosphate transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC20A1	https://www.uniprot.org/uniprot/Q8WUM9		https://www.ncbi.nlm.nih.gov/omim/?term=137570	http://www.informatics.jax.org/searchtool/Search.do?query=SLC20A1&submit=Quick%0D%8572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC20A1	rs11123144	0.817692	0	0	1	0	0	UTR5	UTR5	UTR5	SLC20A1(NM_005415:c.-744T>C)	SLC20A1(uc002tib.3:c.-744T>C)	ENSG00000144136(ENST00000272542:c.-744T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	49;1|3	Hom;T>C	71;0|4
N	N	-	2	113494250	113494250	T	C	snp	UTR3	*2150A>G	 	 	 	CKAP2L	Ckap2l	ENSG00000169607	cytoskeleton associated protein 2 like	chr2:113493930-113522254	The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Endometriosis; Memory, Short-Term; Aggressive Periodontitis|; Alcoholism	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CKAP2L		https://hpo.jax.org/app/browse/search?q=CKAP2L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616174	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2L&submit=Quick%0D%12528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2L	rs4260249	0.964058	0	0	1	0	0	UTR3	intronic	UTR3	CKAP2L(NM_152515:c.*2150A>G,NM_001304361:c.*2150A>G)	NT5DC4	ENSG00000169607(ENST00000541405:c.*2150A>G,ENST00000302450:c.*2150A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	43;4|3	Hom;T>C	229;0|7
N	N	-	2	113495785	113495785	T	C	snp	UTR3	*615A>G	 	 	 	CKAP2L	Ckap2l	ENSG00000169607	cytoskeleton associated protein 2 like	chr2:113493930-113522254	The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Endometriosis; Memory, Short-Term; Aggressive Periodontitis|; Alcoholism	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CKAP2L		https://hpo.jax.org/app/browse/search?q=CKAP2L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616174	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2L&submit=Quick%0D%12528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2L	rs10209160	0.964058	0	0	1	0	0	UTR3	UTR3	UTR3	CKAP2L(NM_152515:c.*615A>G,NM_001304361:c.*615A>G)	CKAP2L(uc002tie.2:c.*615A>G,uc002tif.2:c.*615A>G,uc010yxp.1:c.*615A>G)	ENSG00000169607(ENST00000541405:c.*615A>G,ENST00000302450:c.*615A>G,ENST00000435431:c.*1528A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1799;109|88	Hom;T>C	4513;0|163
N	N	-	2	113498566	113498566	A	G	snp	nonsynonymous SNV	T1841C	L614S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CKAP2L	Ckap2l	ENSG00000169607	cytoskeleton associated protein 2 like	chr2:113493930-113522254	The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Endometriosis; Memory, Short-Term; Aggressive Periodontitis|; Alcoholism	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CKAP2L		https://hpo.jax.org/app/browse/search?q=CKAP2L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616174	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2L&submit=Quick%0D%12528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2L	rs3811040	0.422524	0.3759	0.4926	0.08	1	13	exonic	exonic	exonic	CKAP2L	CKAP2L	ENSG00000169607	nonsynonymous SNV	nonsynonymous SNV	unknown	CKAP2L:NM_152515:exon8:c.T1841C:p.L614S,CKAP2L:NM_001304361:exon8:c.T1346C:p.L449S,	CKAP2L:uc002tie.2:exon8:c.T1841C:p.L614S,CKAP2L:uc002tif.2:exon9:c.T608C:p.L203S,CKAP2L:uc010yxp.1:exon8:c.T1346C:p.L449S,	UNKNOWN	Het;A>G	848;63|41	Hom;A>G	2070;0|69
N	N	-	2	113513504	113513504	A	G	snp	intronic	 	 	 	 	CKAP2L	Ckap2l	ENSG00000169607	cytoskeleton associated protein 2 like	chr2:113493930-113522254	The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Endometriosis; Memory, Short-Term; Aggressive Periodontitis|; Alcoholism	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CKAP2L		https://hpo.jax.org/app/browse/search?q=CKAP2L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616174	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2L&submit=Quick%0D%12528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2L	rs4848298	0.422324	0.3758	0.4954	1	0	0	intronic	intronic	intronic	CKAP2L	CKAP2L	ENSG00000169607	Na	Na	Na	Na	Na	Na	Het;A>G	204;16|10	Hom;A>G	582;0|16
N	N	-	2	113513825	113513825	T	C	snp	nonsynonymous SNV	A1123G	I375V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CKAP2L	Ckap2l	ENSG00000169607	cytoskeleton associated protein 2 like	chr2:113493930-113522254	The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Endometriosis; Memory, Short-Term; Aggressive Periodontitis|; Alcoholism	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/CKAP2L		https://hpo.jax.org/app/browse/search?q=CKAP2L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616174	http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2L&submit=Quick%0D%12528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2L	rs6731822	0.963858	0.9402	0.9622	0.08	1	13	exonic	exonic	exonic	CKAP2L	CKAP2L	ENSG00000169607	nonsynonymous SNV	nonsynonymous SNV	unknown	CKAP2L:NM_152515:exon4:c.A1123G:p.I375V,CKAP2L:NM_001304361:exon4:c.A628G:p.I210V,	CKAP2L:uc002tie.2:exon4:c.A1123G:p.I375V,CKAP2L:uc010yxp.1:exon4:c.A628G:p.I210V,CKAP2L:uc010yxq.1:exon3:c.A628G:p.I210V,	UNKNOWN	Het;T>C	2268;117|104	Hom;T>C	5453;2|191
N	N	-	2	113670475	113670475	A	G	snp	upstream	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2708958	0.0780751	0	0	1	0	0	upstream	upstream	upstream	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;A>G	173;3|5	Hom;A>G	197;0|5
N	N	-	2	113670481	113670481	G	C	snp	upstream	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2723169	0.0780751	0	0	1	0	0	upstream	upstream	upstream	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;G>C	173;3|5	Hom;G>C	197;0|5
N	N	-	2	113670709	113670709	G	GT	indel	intronic	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs28947188	0.0780751	0.1077	0.0729	1	0	0	intronic	intronic	intronic	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;+T	780;21|26	Hom;+T	1532;1|43
N	N	-	2	113671198	113671198	T	C	snp	intronic	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2466448	0.0746805	0	0	1	0	0	intronic	intronic	intronic	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;T>C	32;4|2	Hom;T>C	134;0|4
N	N	-	2	113672890	113672890	C	T	snp	intronic	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2708940	0.076877	0.1040	0	1	0	0	intronic	intronic	intronic	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;C>T	334;3|14	Hom;C>T	536;0|19
N	N	-	2	113674709	113674709	C	G	snp	nonsynonymous SNV	C149G	P50R	hydrophobic,neutral	polar,hydrophilic,charged(+)	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2708943	0.0760783	0.1092	0.0712	0.25	3	12	exonic	exonic	exonic	IL37	IL37	ENSG00000125571	nonsynonymous SNV	nonsynonymous SNV	unknown	IL37:NM_014439:exon3:c.C149G:p.P50R,IL37:NM_173205:exon2:c.C71G:p.P24R,IL37:NM_173202:exon2:c.C86G:p.P29R,	IL37:uc002tik.3:exon2:c.C86G:p.P29R,IL37:uc002tij.3:exon3:c.C149G:p.P50R,IL37:uc002tin.3:exon2:c.C71G:p.P24R,	UNKNOWN	Het;C>G	389;36|19	Hom;C>G	1753;0|64
N	N	-	2	113674721	113674721	A	G	snp	nonsynonymous SNV	A161G	N54S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2723183	0.0760783	0.1092	0.0712	0.08	1	13	exonic	exonic	exonic	IL37	IL37	ENSG00000125571	nonsynonymous SNV	nonsynonymous SNV	unknown	IL37:NM_014439:exon3:c.A161G:p.N54S,IL37:NM_173205:exon2:c.A83G:p.N28S,IL37:NM_173202:exon2:c.A98G:p.N33S,	IL37:uc002tik.3:exon2:c.A98G:p.N33S,IL37:uc002tij.3:exon3:c.A161G:p.N54S,IL37:uc002tin.3:exon2:c.A83G:p.N28S,	UNKNOWN	Het;A>G	517;40|26	Hom;A>G	2024;0|68
N	N	-	2	113674887	113674887	G	T	snp	intronic	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2708944	0.0760783	0	0	1	0	0	intronic	intronic	intronic	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;G>T	129;15|9	Hom;G>T	1168;0|42
N	N	-	2	113674942	113674942	A	G	snp	intronic	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2723184	0.0760783	0	0	1	0	0	intronic	intronic	intronic	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;A>G	75;5|4	Hom;A>G	615;0|19
N	N	-	2	113675269	113675269	C	T	snp	nonsynonymous SNV	C323T	P108L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2723187	0.0758786	0.1092	0.0721	0.38	5	13	exonic	exonic	exonic	IL37	IL37	ENSG00000125571	nonsynonymous SNV	nonsynonymous SNV	unknown	IL37:NM_014439:exon4:c.C323T:p.P108L,IL37:NM_173203:exon2:c.C140T:p.P47L,IL37:NM_173205:exon3:c.C245T:p.P82L,IL37:NM_173204:exon3:c.C203T:p.P68L,IL37:NM_173202:exon3:c.C260T:p.P87L,	IL37:uc002tik.3:exon3:c.C260T:p.P87L,IL37:uc002tij.3:exon4:c.C323T:p.P108L,IL37:uc002tim.3:exon2:c.C140T:p.P47L,IL37:uc002tin.3:exon3:c.C245T:p.P82L,IL37:uc002til.3:exon3:c.C203T:p.P68L,	UNKNOWN	Het;C>T	663;42|34	Hom;C>T	1398;0|53
N	N	-	2	113675428	113675428	G	A	snp	intronic	 	 	 	 	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2723189	0.0760783	0	0	1	0	0	intronic	intronic	intronic	IL37	IL37	ENSG00000125571	Na	Na	Na	Na	Na	Na	Het;G>A	267;5|13	Hom;G>A	441;0|17
N	N	-	2	113676219	113676219	T	C	snp	nonsynonymous SNV	T490C	W164R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2708947	0.0766773	0.1095	0.0712	0.08	1	13	exonic	exonic	exonic	IL37	IL37	ENSG00000125571	nonsynonymous SNV	nonsynonymous SNV	unknown	IL37:NM_014439:exon5:c.T490C:p.W164R,IL37:NM_173203:exon3:c.T307C:p.W103R,IL37:NM_173205:exon4:c.T412C:p.W138R,IL37:NM_173204:exon4:c.T370C:p.W124R,IL37:NM_173202:exon4:c.T427C:p.W143R,	IL37:uc002tik.3:exon4:c.T427C:p.W143R,IL37:uc002tij.3:exon5:c.T490C:p.W164R,IL37:uc002tim.3:exon3:c.T307C:p.W103R,IL37:uc002tin.3:exon4:c.T412C:p.W138R,IL37:uc002til.3:exon4:c.T370C:p.W124R,	UNKNOWN	Het;T>C	877;65|46	Hom;T>C	3035;2|117
N	N	-	2	113676381	113676381	G	A	snp	nonsynonymous SNV	G652A	D218N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	IL37		ENSG00000125571	interleukin 37	chr2:113670548-113676459	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis		Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/IL37	https://www.uniprot.org/uniprot/Q9NZH6		https://www.ncbi.nlm.nih.gov/omim/?term=605510	http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37	rs2723192	0.0758786	0.1092	0.0719	0.23	3	13	exonic	exonic	exonic	IL37	IL37	ENSG00000125571	nonsynonymous SNV	nonsynonymous SNV	unknown	IL37:NM_014439:exon5:c.G652A:p.D218N,IL37:NM_173203:exon3:c.G469A:p.D157N,IL37:NM_173205:exon4:c.G574A:p.D192N,IL37:NM_173204:exon4:c.G532A:p.D178N,IL37:NM_173202:exon4:c.G589A:p.D197N,	IL37:uc002tik.3:exon4:c.G589A:p.D197N,IL37:uc002tij.3:exon5:c.G652A:p.D218N,IL37:uc002tim.3:exon3:c.G469A:p.D157N,IL37:uc002tin.3:exon4:c.G574A:p.D192N,IL37:uc002til.3:exon4:c.G532A:p.D178N,	UNKNOWN	Het;G>A	380;20|19	Hom;G>A	1022;0|36
N	N	-	2	113690316	113690316	T	C	snp	ncRNA_exonic	 	 	 	 	CDK8P2																		rs10084249	0.0816693	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	IL37(dist=13858),IL36G(dist=45280)	IL37(dist=13858),IL36G(dist=45290)	ENSG00000227368	Na	Na	Na	Na	Na	Na	Het;T>C	160;11|9	Hom;T>C	580;0|23
N	N	-	2	113830173	113830173	C	T	snp	UTR5	-143C>T	 	 	 	IL1F10	Il1f10	ENSG00000136697	interleukin 1 family member 10 (theta)	chr2:113825547-113833427	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]	Coronary Disease|Coronary heart disease|Myocardial Infarction; ankylosing spondylitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Restenosis|; longevity; C-Reactive Protein; Spondylitis, Ankylosing; Interleukin 1 Receptor Antagonist Protein; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|Rheumatoid Arthritis	Mice homozygous for a null allele are healthy, fertile and do not show any overt phenotype. Induced psoriasis develops similarly to wild-type mice.	Other interleukin signaling	GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IL1F10	https://www.uniprot.org/uniprot/Q8WWZ1		https://www.ncbi.nlm.nih.gov/omim/?term=615296	http://www.informatics.jax.org/searchtool/Search.do?query=IL1F10&submit=Quick%0D%7383ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL1F10	rs3811050	0.230631	0	0	1	0	0	UTR5	UTR5	UTR5	IL1F10(NM_032556:c.-143C>T)	IL1F10(uc002tiv.3:c.-143C>T)	ENSG00000136697(ENST00000393197:c.-143C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	32;2|2	Hom;C>T	148;0|5
N	N	-	2	113940681	113940681	T	C	snp	synonymous SNV	T645C	S215S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PSD4	Psd4	ENSG00000125637	pleckstrin and Sec7 domain containing 4	chr2:113914902-113966973			 		GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSD4	https://www.uniprot.org/uniprot/Q8NDX1		https://www.ncbi.nlm.nih.gov/omim/?term=614442	http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4	rs3748914	0.57528	0.5025	0.4877	1	0	0	exonic	exonic	exonic	PSD4	PSD4	ENSG00000125637	synonymous SNV	synonymous SNV	unknown	PSD4:NM_012455:exon2:c.T648C:p.S216S,	PSD4:uc002tje.3:exon2:c.T645C:p.S215S,PSD4:uc002tjc.3:exon2:c.T648C:p.S216S,	UNKNOWN	Het;T>C	1385;71|62	Hom;T>C	3700;2|136
N	N	-	2	113940839	113940839	G	C	snp	nonsynonymous SNV	G806C	G269A	aliphatic,neutral	aliphatic,hydrophobic,neutral	PSD4	Psd4	ENSG00000125637	pleckstrin and Sec7 domain containing 4	chr2:113914902-113966973			 		GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSD4	https://www.uniprot.org/uniprot/Q8NDX1		https://www.ncbi.nlm.nih.gov/omim/?term=614442	http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4	rs4849167	0.516973	0.4406	0.4705	0.15	2	13	exonic	exonic	exonic	PSD4	PSD4	ENSG00000125637	nonsynonymous SNV	nonsynonymous SNV	unknown	PSD4:NM_012455:exon2:c.G806C:p.G269A,	PSD4:uc002tje.3:exon2:c.G803C:p.G268A,PSD4:uc002tjc.3:exon2:c.G806C:p.G269A,	UNKNOWN	Het;G>C	1190;80|53	Hom;G>C	2837;0|100
N	N	-	2	113942903	113942903	A	C	snp	intronic	 	 	 	 	PSD4	Psd4	ENSG00000125637	pleckstrin and Sec7 domain containing 4	chr2:113914902-113966973			 		GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSD4	https://www.uniprot.org/uniprot/Q8NDX1		https://www.ncbi.nlm.nih.gov/omim/?term=614442	http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4	rs1975535	0.573882	0.5032	0.4872	1	0	0	intronic	intronic	intronic	PSD4	PSD4	ENSG00000125637	Na	Na	Na	Na	Na	Na	Het;A>C	192;25|12	Hom;A>C	681;2|24
N	N	-	2	113943470	113943470	A	G	snp	synonymous SNV	A1266G	G422G	aliphatic,neutral	aliphatic,neutral	PSD4	Psd4	ENSG00000125637	pleckstrin and Sec7 domain containing 4	chr2:113914902-113966973			 		GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSD4	https://www.uniprot.org/uniprot/Q8NDX1		https://www.ncbi.nlm.nih.gov/omim/?term=614442	http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4	rs2241976	0.577476	0.5101	0.5293	1	0	0	exonic	exonic	exonic	PSD4	PSD4	ENSG00000125637	synonymous SNV	synonymous SNV	unknown	PSD4:NM_012455:exon5:c.A1266G:p.G422G,	PSD4:uc002tjc.3:exon5:c.A1266G:p.G422G,PSD4:uc002tjf.3:exon3:c.A129G:p.G43G,PSD4:uc002tjd.3:exon4:c.A129G:p.G43G,	UNKNOWN	Het;A>G	663;64|33	Hom;A>G	2284;0|78
N	N	-	2	114299607	114299607	T	C	snp	ncRNA_exonic	 	 	 	 	PGM5P4																		rs2441488	0.772963	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	PGM5P3-AS1,PGM5P4-AS1	AY343891	ENSG00000225398	Na	Na	Na	Na	Na	Na	Het;T>C	163;7|9	Hom;T>C	111;0|5
N	N	-	2	114379412	114379412	C	G	snp	ncRNA_exonic	 	 	 	 	RPL23AP7																		rs200019975	0.580272	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	RPL23AP7	RPL23AP7	ENSG00000240356	Na	Na	Na	Na	Na	Na	Het;C>G	186;2|7	Hom;C>G	419;1|14
N	N	-	2	115112929	115112940	TATCTATCTATC	T	indel	intergenic	 	 	 	 	ENSG00000238520																		rs200792304	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01191(dist=348042),DPP10(dist=86959)	LOC440900(dist=348042),DPP10(dist=86959)	ENSG00000238520(dist=74177),ENSG00000222923(dist=64762)	Na	Na	Na	Na	Na	Na	Het;-ATCTATCTATC	333;24|11	Hom;-ATCTATCTATC	982;0|24
N	N	-	2	115639075	115639075	C	CTCTG	indel	intronic	 	 	 	 	DPP10	Dpp10	ENSG00000175497	dipeptidyl peptidase like 10	chr2:115199876-116603328	This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]	schizophrenia | autism; obesity|asthma; asthma; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Metabolism; Type 2 Diabetes| edema | rosiglitazone; Thyrotropin; Respiratory Function Tests; Body Height; Hemoglobin A, Glycosylated; Blood Pressure; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lipoproteins, HDL; Stroke; Neutrophils; Bipolar Disorder; bipolar disorder; Asthma|Respiratory Sounds; Cholesterol, HDL; respiratory syncytial virus bronchiolitis; Cholesterol; Inflammation; C-Reactive Protein; Asthma|; Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal	 		GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/DPP10			https://www.ncbi.nlm.nih.gov/omim/?term=608209	http://www.informatics.jax.org/searchtool/Search.do?query=DPP10&submit=Quick%0D%13709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP10	rs10627745	0.658946	0	0	1	0	0	intronic	intronic	intronic	DPP10	DPP10	ENSG00000175497	Na	Na	Na	Na	Na	Na	Het;+TCTG	409;1|10	Hom;+TCTG	556;10|13
N	N	-	2	1168756	1168756	G	A	snp	intronic	 	 	 	 	SNTG2	Sntg2	ENSG00000281486	syntrophin gamma 2	chr2:946554-1371385	This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]	Eosinophils; Hip	 				GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNTG2			https://www.ncbi.nlm.nih.gov/omim/?term=608715	http://www.informatics.jax.org/searchtool/Search.do?query=SNTG2&submit=Quick%0D%22307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTG2	rs4597564	0.372404	0.2706	0.3497	1	0	0	intronic	intronic	intronic	SNTG2	SNTG2	ENSG00000172554	Na	Na	Na	Na	Na	Na	Het;G>A	1381;78|68	Hom;G>A	3417;0|126
N	N	-	2	1168982	1168982	T	A	snp	intronic	 	 	 	 	SNTG2	Sntg2	ENSG00000281486	syntrophin gamma 2	chr2:946554-1371385	This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]	Eosinophils; Hip	 				GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNTG2			https://www.ncbi.nlm.nih.gov/omim/?term=608715	http://www.informatics.jax.org/searchtool/Search.do?query=SNTG2&submit=Quick%0D%22307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTG2	rs7560649	0.398762	0	0	1	0	0	intronic	intronic	intronic	SNTG2	SNTG2	ENSG00000172554	Na	Na	Na	Na	Na	Na	Het;T>A	166;4|7	Hom;T>A	377;0|12
N	N	-	2	11965541	11965541	A	G	snp	UTR3	*624A>G	 	 	 	LPIN1	Lpin1	ENSG00000134324	lipin 1	chr2:11817721-11967535	This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their full-length structures have not been determined. [provided by RefSeq, May 2012]	Hair; Bipolar Disorder; Uric Acid; Body Weight|Insulin Resistance|Lipodystrophy; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Obesity; Metabolic Syndrome X; Diabetes Mellitus, Type 2; metabolic phenotypes; Cardiovascular Diseases|; Platelet Count; Hypertension; Breath Tests	ENU-induced mutants show transient hindlimb paralysis, demyelination and myelin sheath defects. Spontaneous mutants show neonatal fatty liver and hypertriglyceridemia, runting, male sterility, peripheral neuropathy, and altered hair growth, myelination, adipogenesis and lipid and glucose metabolism.	Triglyceride biosynthesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006642;triglyceride mobilization;ISS|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0009062;fatty acid catabolic process;IBA|GO:0016311;dephosphorylation;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0031100;animal organ regeneration;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA	GO:0005634;nucleus;IBA|GO:0005635;nuclear envelope;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005741;mitochondrial outer membrane;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003674;molecular_function;ND|GO:0003713;transcription coactivator activity;IBA|GO:0008195;phosphatidate phosphatase activity;EXP|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LPIN1	https://www.uniprot.org/uniprot/Q14693	https://hpo.jax.org/app/browse/search?q=LPIN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605518	http://www.informatics.jax.org/searchtool/Search.do?query=LPIN1&submit=Quick%0D%6960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPIN1	rs2716639	0.694888	0	0	1	0	0	UTR3	UTR3	UTR3	LPIN1(NM_001261428:c.*624A>G,NM_001261427:c.*624A>G,NM_145693:c.*624A>G)	LPIN1(uc010yjm.3:c.*624A>G,uc010yjn.3:c.*624A>G,uc002rbt.4:c.*624A>G,uc010yjo.2:c.*624A>G)	ENSG00000134324(ENST00000256720:c.*624A>G,ENST00000396097:c.*624A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1898;77|86	Hom;A>G	4174;0|153
N	N	-	2	119749858	119749858	A	G	snp	intronic	 	 	 	 	MARCO	Marco	ENSG00000019169	macrophage receptor with collagenous structure	chr2:119699742-119752236	The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]	Celiac Disease|; tau Proteins; Stroke; Triglycerides	Mice homozygous for a null allele show altered spleen marginal zone architecture and impaired IgM responses to a pneumococcal polysaccharide vaccine. Mice homozygous for another null allele show increased susceptibility to bacterial pneumonia and enhanced inflammatory responses to inhaled particles.	Scavenging by Class A Receptors	GO:0002221;pattern recognition receptor signaling pathway;IEA|GO:0002376;immune system process;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0043277;apoptotic cell clearance;IEA|GO:0045087;innate immune response;IEA	GO:0005581;collagen trimer;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005044;scavenger receptor activity;IEA|GO:0008329;signaling pattern recognition receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MARCO	https://www.uniprot.org/uniprot/Q9UEW3		https://www.ncbi.nlm.nih.gov/omim/?term=604870	http://www.informatics.jax.org/searchtool/Search.do?query=MARCO&submit=Quick%0D%646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARCO	rs3765035	0.586861	0	0	1	0	0	intronic	intronic	intronic	MARCO	MARCO	ENSG00000019169	Na	Na	Na	Na	Na	Na	Het;A>G	178;7|7	Hom;A>G	402;0|14
N	N	-	2	120366057	120366057	G	GT	indel	intronic	 	 	 	 	CFAP221	Cfap221																	rs11398750	0.610024	0	0.5420	1	0	0	intronic	intronic	intronic	CFAP221	PCDP1	ENSG00000163075	Na	Na	Na	Na	Na	Na	Het;+T	520;5|25	Hom;+T	778;2|34
N	N	-	2	1204612	1204612	A	G	snp	intronic	 	 	 	 	SNTG2	Sntg2	ENSG00000281486	syntrophin gamma 2	chr2:946554-1371385	This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]	Eosinophils; Hip	 				GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNTG2			https://www.ncbi.nlm.nih.gov/omim/?term=608715	http://www.informatics.jax.org/searchtool/Search.do?query=SNTG2&submit=Quick%0D%22307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTG2	rs4971414	0.386981	0	0	1	0	0	intronic	intronic	intronic	SNTG2	SNTG2	ENSG00000172554	Na	Na	Na	Na	Na	Na	Het;A>G	89;3|3	Hom;A>G	467;0|11
N	N	-	2	1204615	1204615	C	G	snp	intronic	 	 	 	 	SNTG2	Sntg2	ENSG00000281486	syntrophin gamma 2	chr2:946554-1371385	This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]	Eosinophils; Hip	 				GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNTG2			https://www.ncbi.nlm.nih.gov/omim/?term=608715	http://www.informatics.jax.org/searchtool/Search.do?query=SNTG2&submit=Quick%0D%22307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTG2	rs4971415	0.386981	0	0	1	0	0	intronic	intronic	intronic	SNTG2	SNTG2	ENSG00000172554	Na	Na	Na	Na	Na	Na	Het;C>G	89;3|3	Hom;C>G	499;0|12
N	N	-	2	1204668	1204669	CT	C	indel	intronic	 	 	 	 	SNTG2	Sntg2	ENSG00000281486	syntrophin gamma 2	chr2:946554-1371385	This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]	Eosinophils; Hip	 				GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNTG2			https://www.ncbi.nlm.nih.gov/omim/?term=608715	http://www.informatics.jax.org/searchtool/Search.do?query=SNTG2&submit=Quick%0D%22307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTG2	rs10706855	0.363818	0	0	1	0	0	intronic	intronic	intronic	SNTG2	SNTG2	ENSG00000172554	Na	Na	Na	Na	Na	Na	Het;-T	228;6|11	Hom;-T	624;0|23
N	N	-	2	12077117	12077117	G	A	snp	ncRNA_intronic	 	 	 	 	MIR3681HG																		rs2581082	0.388379	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR4262(dist=100005),LOC100506457(dist=70125)	MIR4262(dist=100005),AK001558(dist=70137)	ENSG00000224184	Na	Na	Na	Na	Na	Na	Het;G>A	122;23|8	Hom;G>A	508;0|20
N	N	-	2	121221865	121221865	G	C	snp	downstream	 	 	 	 	ENSG00000268194																		rs4849874	0.721845	0	0	1	0	0	downstream	downstream	downstream	LINC01101	LOC84931	ENSG00000268194	Na	Na	Na	Na	Na	Na	Het;G>C	595;7|22	Hom;G>C	408;1|14
N	N	-	2	121222274	121222274	G	T	snp	ncRNA_exonic	 	 	 	 	LINC01101																		rs7585143	0.721446	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LINC01101	LOC84931(uc002tmo.2:c.*879C>A)	ENSG00000268194(ENST00000593290:c.*879C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	2145;125|99	Hom;G>T	5364;0|198
N	N	-	2	121222495	121222495	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01101																		rs12992152	0.650359	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LINC01101	LOC84931(uc002tmo.2:c.*658G>A)	ENSG00000268194(ENST00000593290:c.*658G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1312;48|56	Hom;C>T	2136;0|72
N	N	-	2	121732355	121732357	AGT	A	indel	intronic	 	 	 	 	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs3043526	0.559904	0	0	1	0	0	intronic	intronic	intronic	GLI2	GLI2	ENSG00000074047	Na	Na	Na	Na	Na	Na	Het;-GT	78;1|4	Hom;-GT	174;0|6
N	N	-	2	121740609	121740611	CTT	C	indel	intronic	 	 	 	 	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs577298425	0.599042	0	0	1	0	0	intronic	intronic	intronic	GLI2	GLI2	ENSG00000074047	Na	Na	Na	Na	Na	Na	Het;-TT	287;4|8	Hom;-TT	503;0|12
N	N	-	2	121741843	121741843	A	G	snp	intronic	 	 	 	 	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs3820719	0.510383	0	0	1	0	0	intronic	intronic	intronic	GLI2	GLI2	ENSG00000074047	Na	Na	Na	Na	Na	Na	Het;A>G	31;2|2	Hom;A>G	217;0|7
N	N	-	2	121744225	121744225	A	G	snp	intronic	 	 	 	 	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs2276553	0.519569	0.6298	0.6410	1	0	0	intronic	intronic	intronic	GLI2	GLI2	ENSG00000074047	Na	Na	Na	Na	Na	Na	Het;A>G	594;42|28	Hom;A>G	1757;0|65
N	N	-	2	121746956	121746956	G	T	snp	nonsynonymous SNV	G3466T	A1156S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs3738880	0.508986	0.6234	0.6296	0.08	1	13	exonic	exonic	exonic	GLI2	GLI2	ENSG00000074047	nonsynonymous SNV	nonsynonymous SNV	unknown	GLI2:NM_005270:exon13:c.G3466T:p.A1156S,	GLI2:uc002tmu.4:exon10:c.G2431T:p.A811S,GLI2:uc002tmt.4:exon10:c.G2482T:p.A828S,GLI2:uc010flp.3:exon13:c.G3466T:p.A1156S,	UNKNOWN	Het;G>T	1298;70|63	Hom;G>T	2700;5|100
N	N	-	2	121747406	121747406	G	A	snp	nonsynonymous SNV	G3916A	D1306N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs12711538	0.567093	0.6769	0.6464	0.08	1	13	exonic	exonic	exonic	GLI2	GLI2	ENSG00000074047	nonsynonymous SNV	nonsynonymous SNV	unknown	GLI2:NM_005270:exon13:c.G3916A:p.D1306N,	GLI2:uc002tmu.4:exon10:c.G2881A:p.D961N,GLI2:uc002tmt.4:exon10:c.G2932A:p.D978N,GLI2:uc010flp.3:exon13:c.G3916A:p.D1306N,	UNKNOWN	Het;G>A	1370;55|41	Hom;G>A	3688;0|92
N	N	-	2	121747429	121747429	A	G	snp	synonymous SNV	A2904G	P968P	hydrophobic,neutral	hydrophobic,neutral	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs10167980	0.51238	0.6241	0.6344	1	0	0	exonic	exonic	exonic	GLI2	GLI2	ENSG00000074047	synonymous SNV	synonymous SNV	unknown	GLI2:NM_005270:exon13:c.A3939G:p.P1313P,	GLI2:uc002tmu.4:exon10:c.A2904G:p.P968P,GLI2:uc002tmt.4:exon10:c.A2955G:p.P985P,GLI2:uc010flp.3:exon13:c.A3939G:p.P1313P,	UNKNOWN	Het;A>G	1412;54|43	Hom;A>G	3142;0|74
N	N	-	2	121749067	121749067	G	C	snp	UTR3	*816G>C	 	 	 	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs2278741	0.507788	0	0	1	0	0	UTR3	UTR3	UTR3	GLI2(NM_005270:c.*816G>C)	GLI2(uc002tmt.4:c.*816G>C,uc002tmu.4:c.*816G>C,uc010flp.3:c.*816G>C)	ENSG00000074047(ENST00000452319:c.*816G>C,ENST00000361492:c.*816G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	192;46|13	Hom;G>C	1185;0|46
N	N	-	2	121749583	121749583	T	TAC	indel	UTR3	*1332T>TAC	 	 	 	GLI2	Gli2	ENSG00000074047	GLI family zinc finger 2	chr2:121493199-121750229	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer	Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLI2	https://www.uniprot.org/uniprot/P10070	https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165230	http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2	rs59277032	0	0	0	1	0	0	UTR3	UTR3	UTR3	GLI2(NM_005270:c.*1332T>TAC)	GLI2(uc002tmt.4:c.*1332T>TAC,uc002tmu.4:c.*1332T>TAC,uc010flp.3:c.*1332T>TAC)	ENSG00000074047(ENST00000452319:c.*1332T>TAC,ENST00000361492:c.*1332T>TAC)	Na	Na	Na	Na	Na	Na	Het;+AC	142;4|8	Hom;+AC	266;0|10
N	N	-	2	121800108	121800108	G	A	snp	intergenic	 	 	 	 	Y_RNA																		rs2138819	0.499002	0	0	1	0	0	intergenic	intergenic	intergenic	GLI2(dist=49879),TFCP2L1(dist=174056)	GLI2(dist=49879),TFCP2L1(dist=174056)	ENSG00000201584(dist=1822),ENSG00000234455(dist=38905)	Na	Na	Na	Na	Na	Na	Het;G>A	184;10|10	Hom;G>A	120;0|6
N	N	-	2	121800261	121800261	A	G	snp	intergenic	 	 	 	 	Y_RNA																		rs2138818	0.499002	0	0	1	0	0	intergenic	intergenic	intergenic	GLI2(dist=50032),TFCP2L1(dist=173903)	GLI2(dist=50032),TFCP2L1(dist=173903)	ENSG00000201584(dist=1975),ENSG00000234455(dist=38752)	Na	Na	Na	Na	Na	Na	Het;A>G	34;3|2	Hom;A>G	61;0|3
N	N	-	2	12388519	12388519	A	G	snp	ncRNA_intronic	 	 	 	 	AK001558																		rs1157516	0.925319	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100506457	AK001558	ENSG00000224184	Na	Na	Na	Na	Na	Na	Het;A>G	196;11|11	Hom;A>G	467;0|20
N	N	-	2	125192068	125192068	T	C	snp	synonymous SNV	T537C	D179D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CNTNAP5	Cntnap5a	ENSG00000155052	contactin associated protein like 5	chr2:124782864-125672864	This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]	bipolar disorder; Stroke; autism; Fibrinogen; null; tonometry; Echocardiography; Body Mass Index; Tobacco Use Disorder; Risperidone; Cell Adhesion Molecules; Hemoglobin A, Glycosylated; Cholesterol, LDL; Brain; response to antipsychotic treatment; Body Weight Changes; Blood Pressure; Tunica Media; Triglycerides; Intelligence; Iron; E-Selectin	 		GO:0007155;cell adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP5	https://www.uniprot.org/uniprot/Q8WYK1		https://www.ncbi.nlm.nih.gov/omim/?term=610519	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP5&submit=Quick%0D%9834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP5	rs1425745	0.824281	0.8885	0.9018	1	0	0	exonic	exonic	exonic	CNTNAP5	CNTNAP5	ENSG00000155052	synonymous SNV	synonymous SNV	unknown	CNTNAP5:NM_130773:exon5:c.T537C:p.D179D,	CNTNAP5:uc010flu.3:exon5:c.T537C:p.D179D,CNTNAP5:uc002tno.3:exon5:c.T537C:p.D179D,	UNKNOWN	Het;T>C	281;13|11	Hom;T>C	1628;0|55
N	N	-	2	125232609	125232609	G	T	snp	intronic	 	 	 	 	CNTNAP5	Cntnap5a	ENSG00000155052	contactin associated protein like 5	chr2:124782864-125672864	This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]	bipolar disorder; Stroke; autism; Fibrinogen; null; tonometry; Echocardiography; Body Mass Index; Tobacco Use Disorder; Risperidone; Cell Adhesion Molecules; Hemoglobin A, Glycosylated; Cholesterol, LDL; Brain; response to antipsychotic treatment; Body Weight Changes; Blood Pressure; Tunica Media; Triglycerides; Intelligence; Iron; E-Selectin	 		GO:0007155;cell adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP5	https://www.uniprot.org/uniprot/Q8WYK1		https://www.ncbi.nlm.nih.gov/omim/?term=610519	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP5&submit=Quick%0D%9834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP5	rs4411700	0.741414	0	0	1	0	0	intronic	intronic	intronic	CNTNAP5	CNTNAP5	ENSG00000155052	Na	Na	Na	Na	Na	Na	Het;G>T	66;4|4	Hom;G>T	250;0|9
N	N	-	2	127756813	127756813	T	C	snp	intergenic	 	 	 	 	AC114783.1		ENSG00000237524		chr2:127656472-127659673						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/AC114783.1				http://www.informatics.jax.org/searchtool/Search.do?query=AC114783.1&submit=Quick%0D%19511ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AC114783.1	rs9287564	0.16893	0	0	1	0	0	intergenic	intergenic	intergenic	GYPC(dist=302562),BIN1(dist=48786)	GYPC(dist=302562),BIN1(dist=48786)	ENSG00000237524(dist=97140),ENSG00000238788(dist=18184)	Na	Na	Na	Na	Na	Na	Het;T>C	47;2|3	Hom;T>C	71;0|4
N	N	-	2	127944781	127944781	A	AC	indel	UTR3	*66T>GT	 	 	 	CYP27C1		ENSG00000186684	cytochrome P450 family 27 subfamily C member 1	chr2:127941696-127977654	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]	Varicose Veins; Waist-Hip Ratio			GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP27C1				http://www.informatics.jax.org/searchtool/Search.do?query=CYP27C1&submit=Quick%0D%15693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP27C1	rs11384285	0.742812	0	0	1	0	0	UTR3	UTR3	UTR3	CYP27C1(NM_001001665:c.*66T>GT)	CYP27C1(uc002tod.2:c.*66T>GT,uc021vnn.1:c.*66T>GT)	ENSG00000186684(ENST00000335247:c.*66T>GT,ENST00000409327:c.*66T>GT)	Na	Na	Na	Na	Na	Na	Het;+C	344;12|10	Hom;+C	466;0|11
N	N	-	2	127953054	127953054	A	C	snp	synonymous SNV	T576G	T192T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CYP27C1		ENSG00000186684	cytochrome P450 family 27 subfamily C member 1	chr2:127941696-127977654	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]	Varicose Veins; Waist-Hip Ratio			GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP27C1				http://www.informatics.jax.org/searchtool/Search.do?query=CYP27C1&submit=Quick%0D%15693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP27C1	rs7568070	0.279353	0.3308	0.2697	1	0	0	exonic	exonic	exonic	CYP27C1	CYP27C1	ENSG00000186684	synonymous SNV	synonymous SNV	unknown	CYP27C1:NM_001001665:exon5:c.T576G:p.T192T,	CYP27C1:uc002tod.2:exon5:c.T576G:p.T192T,CYP27C1:uc021vnn.1:exon5:c.T576G:p.T192T,	UNKNOWN	Het;A>C	654;39|34	Hom;A>C	1409;0|49
N	N	-	2	128176040	128176040	A	T	snp	synonymous SNV	A18T	R6R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PROC	Proc	ENSG00000115718	protein C, inactivator of coagulation factors Va and VIIIa	chr2:128176003-128186822	This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]	thromboembolism, venous; protein C; Hereditary protein C deficiency; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Waist-Hip Ratio; Venous Thrombosis; thrombosis, deep vein; Cardiovascular Diseases|Thrombosis; circulating protein C levels and thrombotic risk; blood pressure, arterial sepsis; plasma protein C levels and thrombotic risk; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Protein C Deficiency|Venous Thrombosis; Multiple Organ Failure|Sepsis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Thromboembolism|Thrombophilia|Venous Thrombosis; thromboembolism, venous, pregnancy-related; Thrombosis; Body Height; warfarin sensitivity; Cardiovascular Diseases|Coronary Disease|Inflammation|Stroke|Thrombosis; Protein C; thromboembolism, venous; Thrombophilia|Venous Thrombosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chronic renal failure|Kidney Failure, Chronic; venous thrombosis; Acute Coronary Syndrome; Cardiovascular Diseases|; warfarin response; atherosclerosis; null	Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice.	Post-translational protein phosphorylation	GO:0001889;liver development;IEA|GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0017187;peptidyl-glutamic acid carboxylation;TAS|GO:0030195;negative regulation of blood coagulation;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044537;regulation of circulating fibrinogen levels;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050819;negative regulation of coagulation;IMP|GO:0050900;leukocyte migration;TAS|GO:1903142;positive regulation of establishment of endothelial barrier;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS	GO:0004252;serine-type endopeptidase activity;IMP|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PROC	https://www.uniprot.org/uniprot/P04070	https://hpo.jax.org/app/browse/search?q=PROC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612283	http://www.informatics.jax.org/searchtool/Search.do?query=PROC&submit=Quick%0D%4650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PROC	rs1799810	0.393171	0	0.4514	1	0	0	UTR5	exonic	exonic	PROC(NM_000312:c.-1479A>T)	PROC	ENSG00000115718	Na	synonymous SNV	unknown	Na	PROC:uc010yzk.2:exon1:c.A18T:p.R6R,PROC:uc002tol.3:exon1:c.A18T:p.R6R,PROC:uc010yzi.2:exon1:c.A18T:p.R6R,	UNKNOWN	Het;A>T	1894;123|94	Hom;A>T	5802;0|220
N	N	-	2	128281469	128281469	C	T	snp	intronic	 	 	 	 	IWS1	Iws1	ENSG00000163166	IWS1, SUPT6H interacting protein	chr2:128193783-128284462		Basophils	Mice homozygous for a null allele die before E3.5.	RNA Polymerase II Transcription Elongation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006397;mRNA processing;IEA|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0010793;regulation of mRNA export from nucleus;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IBA|GO:0050684;regulation of mRNA processing;IMP|GO:0051028;mRNA transport;IEA|GO:0090239;regulation of histone H4 acetylation;IMP|GO:2001253;regulation of histone H3-K36 trimethylation;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IWS1				http://www.informatics.jax.org/searchtool/Search.do?query=IWS1&submit=Quick%0D%10899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IWS1	rs2303947	0.477236	0	0	1	0	0	intronic	intronic	intronic	IWS1	IWS1	ENSG00000163166	Na	Na	Na	Na	Na	Na	Het;C>T	379;13|14	Hom;C>T	592;0|17
N	N	-	2	128321770	128321770	G	A	snp	nonsynonymous SNV	G61A	G21S	aliphatic,neutral	polar,hydrophilic,neutral	MYO7B	Myo7b	ENSG00000169994	myosin VIIB	chr2:128293378-128395304		Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO7B			https://www.ncbi.nlm.nih.gov/omim/?term=606541	http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B	rs2404991	0.395367	0.3999	0.5234	0.23	3	13	exonic	exonic	exonic	MYO7B	MYO7B	ENSG00000169994	nonsynonymous SNV	nonsynonymous SNV	unknown	MYO7B:NM_001080527:exon3:c.G61A:p.G21S,	MYO7B:uc002top.3:exon3:c.G61A:p.G21S,	UNKNOWN	Het;G>A	1107;72|57	Hom;G>A	2950;2|116
N	N	-	2	128385244	128385244	T	C	snp	intronic	 	 	 	 	MYO7B	Myo7b	ENSG00000169994	myosin VIIB	chr2:128293378-128395304		Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO7B			https://www.ncbi.nlm.nih.gov/omim/?term=606541	http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B	rs58961411	0.169529	0	0.2136	1	0	0	intronic	intronic	intronic	MYO7B	MYO7B	ENSG00000169994	Na	Na	Na	Na	Na	Na	Het;T>C	45;1|3	Hom;T>C	120;0|6
N	N	-	2	128459806	128459806	G	A	snp	UTR3	*4091C>T	 	 	 	WDR33	Wdr33	ENSG00000136709	WD repeat domain 33	chr2:128458596-128568761	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006301;postreplication repair;NAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006379;mRNA cleavage;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007283;spermatogenesis;NAS|GO:0031124;mRNA 3'-end processing;TAS	GO:0001650;fibrillar center;IDA|GO:0005581;collagen trimer;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR33	https://www.uniprot.org/uniprot/Q9C0J8			http://www.informatics.jax.org/searchtool/Search.do?query=WDR33&submit=Quick%0D%7386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR33	rs548233828	0.000798722	0	0	1	0	0	UTR3	UTR3	UTR3	SFT2D3(NM_032740:c.*56G>A)	SFT2D3(uc002tpf.3:c.*56G>A)	ENSG00000136709(ENST00000322313:c.*4091C>T),ENSG00000173349(ENST00000310981:c.*56G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	53;2|4	Hom;G>A	120;0|6
N	N	-	2	129228618	129228618	C	T	snp	intergenic	 	 	 	 	RNA5SP103																		rs11685696	0	0	0	1	0	0	intergenic	intergenic	intergenic	HS6ST1(dist=152447),LOC101927881(dist=393556)	HS6ST1(dist=152447),AK311291(dist=393561)	ENSG00000238379(dist=25846),ENSG00000227653(dist=47744)	Na	Na	Na	Na	Na	Na	Het;C>T	185;1|10	Hom;C>T	207;0|10
N	N	-	2	129276784	129276784	C	T	snp	upstream	 	 	 	 	ISCA1P6																		rs1814530	0.330272	0	0	1	0	0	intergenic	intergenic	upstream	HS6ST1(dist=200613),LOC101927881(dist=345390)	HS6ST1(dist=200613),AK311291(dist=345395)	ENSG00000227653	Na	Na	Na	Na	Na	Na	Het;C>T	272;16|14	Hom;C>T	932;0|35
N	N	-	2	130327516	130327516	C	A	snp	intergenic	 	 	 	 	AC019050.1																		rs2188914	0.477636	0	0	1	0	0	intergenic	intergenic	intergenic	LOC151121(dist=296052),LOC389033(dist=352919)	LOC151121(dist=296095),LOC389033(dist=352919)	ENSG00000233428(dist=73155),ENSG00000229536(dist=299250)	Na	Na	Na	Na	Na	Na	Het;C>A	57;4|3	Hom;C>A	290;0|9
N	N	-	2	130327589	130327589	A	G	snp	intergenic	 	 	 	 	AC019050.1																		rs2188913	0.626198	0	0	1	0	0	intergenic	intergenic	intergenic	LOC151121(dist=296125),LOC389033(dist=352846)	LOC151121(dist=296168),LOC389033(dist=352846)	ENSG00000233428(dist=73228),ENSG00000229536(dist=299177)	Na	Na	Na	Na	Na	Na	Het;A>G	185;27|12	Hom;A>G	930;0|36
N	N	-	2	130688292	130688292	G	A	snp	ncRNA_intronic	 	 	 	 	LOC101927924																		rs10928943	0.538738	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101927924,LOC389033	LOC389033	ENSG00000214100,ENSG00000237574	Na	Na	Na	Na	Na	Na	Het;G>A	591;19|28	Hom;G>A	1231;2|48
N	N	-	2	130688367	130688367	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927924																		rs11695785	0.772564	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101927924	LOC389033	ENSG00000237574	Na	Na	Na	Na	Na	Na	Het;T>C	862;30|40	Hom;T>C	1531;2|57
N	N	-	2	130703962	130703962	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927924																		rs6707259	0.778754	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927924	LOC389033(dist=12072),LOC100131320(dist=20203)	ENSG00000237574	Na	Na	Na	Na	Na	Na	Het;C>T	676;58|35	Hom;C>T	2161;0|73
N	N	-	2	130724786	130724786	G	A	snp	ncRNA_exonic	 	 	 	 	RAB6C-AS1																		rs13395676	0.579273	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RAB6C-AS1	LOC100131320	ENSG00000225449	Na	Na	Na	Na	Na	Na	Het;G>A	1583;68|73	Hom;G>A	3324;0|119
N	N	-	2	130738163	130738163	G	A	snp	nonsynonymous SNV	G475A	A159T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	RAB6C	Rab6a	ENSG00000222014	RAB6C, member RAS oncogene family	chr2:130737235-130740311		HIV Infections|[X]Human immunodeficiency virus disease; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 		GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0010824;regulation of centrosome duplication;IMP|GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0042493;response to drug;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAB6C			https://www.ncbi.nlm.nih.gov/omim/?term=612909	http://www.informatics.jax.org/searchtool/Search.do?query=RAB6C&submit=Quick%0D%18459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB6C	rs4662674	0.577077	0	0.6520	0.17	2	12	exonic	exonic	exonic	RAB6C	RAB6C	ENSG00000222014	nonsynonymous SNV	nonsynonymous SNV	unknown	RAB6C:NM_032144:exon1:c.G475A:p.A159T,	RAB6C:uc002tpx.1:exon1:c.G475A:p.A159T,	UNKNOWN	Het;G>A	1597;106|79	Hom;G>A	3247;0|123
N	N	-	2	130932371	130932371	C	A	snp	intronic	 	 	 	 	SMPD4	Smpd4	ENSG00000136699	sphingomyelin phosphodiesterase 4	chr2:130908981-130940323	Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone	 	Glycosphingolipid metabolism	GO:0006685;sphingomyelin catabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0046475;glycerophospholipid catabolic process;IDA|GO:0046513;ceramide biosynthetic process;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004767;sphingomyelin phosphodiesterase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050290;sphingomyelin phosphodiesterase D activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SMPD4	https://www.uniprot.org/uniprot/Q9NXE4		https://www.ncbi.nlm.nih.gov/omim/?term=610457	http://www.informatics.jax.org/searchtool/Search.do?query=SMPD4&submit=Quick%0D%7385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMPD4	rs111636541	0.0634984	0	0	1	0	0	intronic	intronic	intronic	SMPD4	SMPD4	ENSG00000136699	Na	Na	Na	Na	Na	Na	Het;C>A	171;2|6	Hom;C>A	237;0|8
N	N	-	2	131949169	131949169	G	A	snp	ncRNA_exonic	 	 	 	 	NF1P8																		rs62177500	0.502196	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	PLEKHB2(dist=41744),POTEE(dist=26755)	PLEKHB2	ENSG00000236956	Na	Na	Na	Na	Na	Na	Het;G>A	952;24|44	Hom;G>A	1469;0|56
N	N	-	2	131976272	131976272	G	C	snp	synonymous SNV	G297C	G99G	aliphatic,neutral	aliphatic,neutral	POTEE	 	ENSG00000188219	POTE ankyrin domain family member E	chr2:131975882-132022965			 		GO:0001895;retina homeostasis;IEP|GO:0021762;substantia nigra development;IEP	GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/POTEE			https://www.ncbi.nlm.nih.gov/omim/?term=608914	http://www.informatics.jax.org/searchtool/Search.do?query=POTEE&submit=Quick%0D%15990ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POTEE	rs9973941	0	0	0.8220	1	0	0	exonic	exonic	exonic	POTEE	POTEE	ENSG00000188219	synonymous SNV	synonymous SNV	unknown	POTEE:NM_001083538:exon1:c.G297C:p.G99G,	POTEE:uc002tsn.2:exon1:c.G297C:p.G99G,	UNKNOWN	Het;G>C	1858;134|82	Hom;G>C	4930;0|156
N	N	-	2	131986375	131986375	C	G	snp	ncRNA_intronic	 	 	 	 	ENSG00000250852																		rs62177522	0.663538	0	0	1	0	0	intronic	intronic	ncRNA_intronic	POTEE	PLEKHB2,POTEE	ENSG00000250852	Na	Na	Na	Na	Na	Na	Het;C>G	282;11|10	Hom;C>G	885;0|28
N	N	-	2	131986831	131986831	C	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000250852																		rs12471279	0.671326	0	0	1	0	0	intronic	intronic	ncRNA_intronic	POTEE	PLEKHB2,POTEE	ENSG00000250852	Na	Na	Na	Na	Na	Na	Het;C>T	140;5|8	Hom;C>T	334;0|13
N	N	-	2	131987105	131987105	A	G	snp	ncRNA_intronic	 	 	 	 	ENSG00000250852																		rs12473736	0.464058	0	0	1	0	0	intronic	intronic	ncRNA_intronic	POTEE	PLEKHB2,POTEE	ENSG00000250852	Na	Na	Na	Na	Na	Na	Het;A>G	636;39|31	Hom;A>G	2256;2|83
N	N	-	2	132036800	132036800	G	GTGT	indel	upstream	 	 	 	 	LOC440910																		rs112398066	0.765775	0	0	1	0	0	upstream	intronic	intronic	LOC440910	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;+TGT	281;6|8	Hom;+TGT	548;0|13
N	N	-	2	132037094	132037094	A	G	snp	ncRNA_intronic	 	 	 	 	LOC440910																		rs7594016	0.804712	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	LOC440910	LOC440910	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;A>G	70;6|3	Hom;A>G	321;0|10
N	N	-	2	132043999	132043999	A	G	snp	ncRNA_intronic	 	 	 	 	LOC440910																		rs6423206	0.80012	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	LOC440910	LOC440910	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;A>G	403;26|19	Hom;A>G	1019;3|41
N	N	-	2	132054675	132054675	T	C	snp	ncRNA_intronic	 	 	 	 	LOC440910																		rs2336832	0.75599	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC440910	LOC440910	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;T>C	34;6|3	Hom;T>C	131;0|4
N	N	-	2	132057195	132057195	C	T	snp	ncRNA_exonic	 	 	 	 	LOC440910																		rs7571116	0.676318	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC440910	LOC440910	ENSG00000231431,ENSG00000236516	Na	Na	Na	Na	Na	Na	Het;C>T	1310;77|64	Hom;C>T	3265;0|125
N	N	-	2	132057780	132057780	G	C	snp	ncRNA_exonic	 	 	 	 	KLF2P4																		rs10180577	0.679712	0	0	1	0	0	downstream	intronic	ncRNA_exonic	LOC440910	PLEKHB2	ENSG00000236516	Na	Na	Na	Na	Na	Na	Het;G>C	1834;67|84	Hom;G>C	3383;0|124
N	N	-	2	132057930	132057930	C	G	snp	ncRNA_exonic	 	 	 	 	KLF2P4																		rs10190177	0.67492	0	0	1	0	0	downstream	intronic	ncRNA_exonic	LOC440910	PLEKHB2	ENSG00000236516	Na	Na	Na	Na	Na	Na	Het;C>G	900;56|42	Hom;C>G	2267;0|76
N	N	-	2	132058046	132058046	G	C	snp	downstream	 	 	 	 	LOC440910																		rs10183169	0.720847	0	0	1	0	0	downstream	intronic	ncRNA_intronic	LOC440910	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;G>C	228;13|11	Hom;G>C	737;0|27
N	N	-	2	132058110	132058110	C	G	snp	downstream	 	 	 	 	LOC440910																		rs10192663	0.67492	0	0	1	0	0	downstream	intronic	ncRNA_intronic	LOC440910	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;C>G	199;5|8	Hom;C>G	370;0|12
N	N	-	2	132058144	132058144	G	A	snp	downstream	 	 	 	 	LOC440910																		rs12691914	0.663139	0	0	1	0	0	downstream	intronic	ncRNA_intronic	LOC440910	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;G>A	152;2|7	Hom;G>A	111;0|4
N	N	-	2	132059813	132059813	G	A	snp	ncRNA_exonic	 	 	 	 	FAR2P4																		rs4850099	0.763379	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	LOC440910(dist=2421),WTH3DI(dist=58252)	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;G>A	949;33|45	Hom;G>A	2348;0|89
N	N	-	2	132060048	132060048	C	T	snp	ncRNA_intronic	 	 	 	 	FAR2P4																		rs13009888	0.675919	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	LOC440910(dist=2656),WTH3DI(dist=58017)	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;C>T	102;1|4	Hom;C>T	192;0|7
N	N	-	2	132060249	132060249	C	T	snp	ncRNA_intronic	 	 	 	 	FAR2P4																		rs7582433	0.804912	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	LOC440910(dist=2857),WTH3DI(dist=57816)	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;C>T	1680;31|76	Hom;C>T	2720;0|102
N	N	-	2	132060690	132060690	G	T	snp	ncRNA_intronic	 	 	 	 	FAR2P4																		rs7421366	0	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	LOC440910(dist=3298),WTH3DI(dist=57375)	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;G>T	292;17|16	Hom;G>T	427;0|17
N	N	-	2	132066470	132066471	TC	T	indel	ncRNA_exonic	 	 	 	 	FAR2P4																		rs57075481	0	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	LOC440910(dist=9078),WTH3DI(dist=51594)	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;-C	359;22|11	Hom;-C	1448;0|33
N	N	-	2	132066472	132066472	C	G	snp	ncRNA_exonic	 	 	 	 	FAR2P4																		rs56113834	0.486422	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	LOC440910(dist=9080),WTH3DI(dist=51593)	PLEKHB2	ENSG00000231431	Na	Na	Na	Na	Na	Na	Het;C>G	368;22|11	Hom;C>G	1457;0|33
N	N	-	2	132067650	132067653	ATCT	A	indel	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs142240048	0	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=10258),WTH3DI(dist=50412)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;-TCT	1691;50|45	Hom;-TCT	2732;2|101
N	N	-	2	132068014	132068014	G	C	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs12475087	0.676118	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=10622),WTH3DI(dist=50051)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;G>C	1025;82|45	Hom;G>C	2983;2|108
N	N	-	2	132092461	132092461	A	G	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs1815203	0.678315	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=35069),WTH3DI(dist=25604)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;A>G	111;4|4	Hom;A>G	253;0|7
N	N	-	2	132092933	132092933	C	T	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs13003325	0.683906	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=35541),WTH3DI(dist=25132)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;C>T	765;25|33	Hom;C>T	2040;0|73
N	N	-	2	132092999	132092999	T	C	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs13024406	0.744409	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=35607),WTH3DI(dist=25066)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;T>C	808;32|35	Hom;T>C	1940;0|68
N	N	-	2	132093226	132093226	C	CA	indel	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs35349825	0.713259	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=35834),WTH3DI(dist=24839)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;+A	884;26|39	Hom;+A	1634;0|59
N	N	-	2	132095028	132095028	T	C	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs1852556	0.702875	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=37636),WTH3DI(dist=23037)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;T>C	38;3|2	Hom;T>C	148;0|6
N	N	-	2	132095198	132095198	T	C	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs1815204	0.806709	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=37806),WTH3DI(dist=22867)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;T>C	267;29|14	Hom;T>C	1523;0|56
N	N	-	2	132095291	132095291	T	C	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs3850468	0.790335	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=37899),WTH3DI(dist=22774)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;T>C	266;27|15	Hom;T>C	1518;0|58
N	N	-	2	132105786	132105786	A	G	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs10202730	0.812899	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=48394),WTH3DI(dist=12279)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;A>G	1096;38|53	Hom;A>G	2761;0|104
N	N	-	2	132106085	132106085	T	C	snp	intronic	 	 	 	 	PLEKHB2	Plekhb2	ENSG00000115762	pleckstrin homology domain containing B2	chr2:131862420-132111282			 		GO:0045595;regulation of cell differentiation;IBA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2	https://www.uniprot.org/uniprot/Q96CS7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2	rs10208297	0.769569	0	0	1	0	0	intergenic	intronic	intronic	LOC440910(dist=48693),WTH3DI(dist=11980)	PLEKHB2	ENSG00000115762	Na	Na	Na	Na	Na	Na	Het;T>C	406;8|18	Hom;T>C	637;0|24
N	N	-	2	132120501	132120501	C	CT	indel	ncRNA_exonic	 	 	 	 	WTH3DI																		rs146351322	0.73722	0.7354	0.7856	1	0	0	UTR3	UTR3	ncRNA_exonic	WTH3DI(NM_001077637:c.*28G>AG)	WTH3DI(uc002tsr.3:c.*28G>AG)	ENSG00000233087	Na	Na	Na	Na	Na	Na	Het;+T	731;37|32	Hom;+T	1655;2|59
N	N	-	2	132121350	132121350	G	C	snp	ncRNA_exonic	 	 	 	 	WTH3DI																		rs1881001	0	0	0	1	0	0	UTR5	UTR5	ncRNA_exonic	WTH3DI(NM_001077637:c.-57C>G)	WTH3DI(uc002tsr.3:c.-57C>G)	ENSG00000233087	Na	Na	Na	Na	Na	Na	Het;G>C	113;34|9	Hom;G>C	397;0|16
N	N	-	2	132156253	132156253	A	G	snp	intergenic	 	 	 	 	MED15P3																		rs1527567	0.46885	0	0	1	0	0	intergenic	intergenic	intergenic	WTH3DI(dist=34522),LINC01120(dist=4221)	TRNA_Pseudo(dist=13049),LOC389043(dist=4221)	ENSG00000226831(dist=3138),ENSG00000223631(dist=4221)	Na	Na	Na	Na	Na	Na	Het;A>G	176;2|5	Hom;A>G	332;0|8
N	N	-	2	132156257	132156257	A	G	snp	intergenic	 	 	 	 	MED15P3																		rs4850196	0.566494	0	0	1	0	0	intergenic	intergenic	intergenic	WTH3DI(dist=34526),LINC01120(dist=4217)	TRNA_Pseudo(dist=13053),LOC389043(dist=4217)	ENSG00000226831(dist=3142),ENSG00000223631(dist=4217)	Na	Na	Na	Na	Na	Na	Het;A>G	206;2|6	Hom;A>G	365;0|9
N	N	-	2	132156279	132156279	C	G	snp	intergenic	 	 	 	 	MED15P3																		rs4850108	0.458067	0	0	1	0	0	intergenic	intergenic	intergenic	WTH3DI(dist=34548),LINC01120(dist=4195)	TRNA_Pseudo(dist=13075),LOC389043(dist=4195)	ENSG00000226831(dist=3164),ENSG00000223631(dist=4195)	Na	Na	Na	Na	Na	Na	Het;C>G	251;5|7	Hom;C>G	814;0|18
N	N	-	2	132156280	132156280	A	G	snp	intergenic	 	 	 	 	MED15P3																		rs4850197	0.642372	0	0	1	0	0	intergenic	intergenic	intergenic	WTH3DI(dist=34549),LINC01120(dist=4194)	TRNA_Pseudo(dist=13076),LOC389043(dist=4194)	ENSG00000226831(dist=3165),ENSG00000223631(dist=4194)	Na	Na	Na	Na	Na	Na	Het;A>G	251;5|7	Hom;A>G	814;0|19
N	N	-	2	132156433	132156433	G	C	snp	intergenic	 	 	 	 	MED15P3																		rs4850198	0.717252	0	0	1	0	0	intergenic	intergenic	intergenic	WTH3DI(dist=34702),LINC01120(dist=4041)	TRNA_Pseudo(dist=13229),LOC389043(dist=4041)	ENSG00000226831(dist=3318),ENSG00000223631(dist=4041)	Na	Na	Na	Na	Na	Na	Het;G>C	403;21|20	Hom;G>C	1500;0|57
N	N	-	2	132163028	132163028	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01120																		rs10195140	0.441693	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC01120	LOC389043	ENSG00000223631	Na	Na	Na	Na	Na	Na	Het;A>G	2341;150|110	Hom;A>G	5939;0|211
N	N	-	2	132164854	132164854	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01120																		rs2272355	0.466853	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC01120	LOC389043	ENSG00000223631	Na	Na	Na	Na	Na	Na	Het;T>C	1262;81|59	Hom;T>C	3121;0|105
N	N	-	2	132358633	132358633	T	C	snp	ncRNA_intronic	 	 	 	 	POTEKP																		rs13006377	0.579273	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	POTEKP,RNU6-81P	CCDC74A(dist=67394),RNU6-81P(dist=1808)	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;T>C	289;11|10	Hom;T>C	580;0|19
N	N	-	2	132359185	132359185	T	C	snp	ncRNA_intronic	 	 	 	 	POTEKP																		rs6733901	0.579473	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	POTEKP,RNU6-81P	CCDC74A(dist=67946),RNU6-81P(dist=1256)	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;T>C	1858;66|84	Hom;T>C	5057;2|183
N	N	-	2	132359936	132359936	A	G	snp	upstream	 	 	 	 	RNU6-81P																		rs7422572	0.392971	0	0	1	0	0	ncRNA_intronic	upstream	ncRNA_intronic	POTEKP,RNU6-81P	RNU6-81P	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;A>G	111;20|7	Hom;A>G	749;0|27
N	N	-	2	132360264	132360264	T	C	snp	upstream	 	 	 	 	RNU6-81P																		rs4107585	0	0	0	1	0	0	ncRNA_intronic	upstream	ncRNA_intronic	POTEKP,RNU6-81P	RNU6-81P	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;T>C	2428;11|95	Hom;T>C	3382;5|124
N	N	-	2	132361473	132361473	C	T	snp	ncRNA_intronic	 	 	 	 	POTEKP																		rs10496684	0.39377	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	POTEKP	RNU6-81P(dist=1005),FKSG30(dist=22486)	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;C>T	310;1|9	Hom;C>T	491;0|12
N	N	-	2	132366923	132366923	G	T	snp	ncRNA_exonic	 	 	 	 	POTEKP																		rs1979998	0.57508	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_exonic	POTEKP	RNU6-81P(dist=6455),FKSG30(dist=17036)	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;G>T	1594;100|78	Hom;G>T	4570;0|168
N	N	-	2	132368971	132368971	C	T	snp	ncRNA_intronic	 	 	 	 	POTEKP																		rs13024022	0.600639	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	POTEKP(dist=1997),LINC01087(dist=25627)	RNU6-81P(dist=8503),FKSG30(dist=14988)	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;C>T	94;5|4	Hom;C>T	122;0|4
N	N	-	2	132384339	132384339	C	T	snp	ncRNA_exonic	 	 	 	 	POTEKP																		rs13011244	0.583866	0.6658	0	1	0	0	intergenic	downstream	ncRNA_exonic	POTEKP(dist=17365),LINC01087(dist=10259)	FKSG30	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;C>T	1650;95|79	Hom;C>T	4180;2|150
N	N	-	2	132384381	132384381	G	A	snp	ncRNA_exonic	 	 	 	 	POTEKP																		rs12991373	0.391374	0.3997	0	1	0	0	intergenic	downstream	ncRNA_exonic	POTEKP(dist=17407),LINC01087(dist=10217)	FKSG30	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;G>A	1520;103|78	Hom;G>A	4297;2|163
N	N	-	2	132384588	132384588	C	G	snp	ncRNA_exonic	 	 	 	 	POTEKP																		rs13011674	0.390575	0.3995	0	1	0	0	intergenic	downstream	ncRNA_exonic	POTEKP(dist=17614),LINC01087(dist=10010)	FKSG30	ENSG00000204434	Na	Na	Na	Na	Na	Na	Het;C>G	2451;173|127	Hom;C>G	6622;1|235
N	N	-	2	132395162	132395162	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01087																		rs4850220	0.396565	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_exonic	LINC01087	DQ583165	ENSG00000224559	Na	Na	Na	Na	Na	Na	Het;A>G	208;5|10	Hom;A>G	606;0|21
N	N	-	2	132396395	132396395	T	G	snp	ncRNA_exonic	 	 	 	 	LINC01087																		rs3925244	0.391174	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01087	DQ583165(dist=2080),BX648270(dist=46075)	ENSG00000224559	Na	Na	Na	Na	Na	Na	Het;T>G	1956;75|91	Hom;T>G	5155;0|185
N	N	-	2	132443789	132443789	G	A	snp	ncRNA_intronic	 	 	 	 	BX648270																		rs11892201	0.257588	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	LINC01087(dist=36601),C2orf27A(dist=36275)	BX648270	ENSG00000224559(dist=36601),ENSG00000197927(dist=36159)	Na	Na	Na	Na	Na	Na	Het;G>A	716;82|40	Hom;G>A	1953;2|73
N	N	-	2	132443813	132443813	G	A	snp	ncRNA_intronic	 	 	 	 	BX648270																		rs11892230	0.250998	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	LINC01087(dist=36625),C2orf27A(dist=36251)	BX648270	ENSG00000224559(dist=36625),ENSG00000197927(dist=36135)	Na	Na	Na	Na	Na	Na	Het;G>A	772;69|37	Hom;G>A	1767;2|63
N	N	-	2	132479940	132479940	A	C	snp	upstream;downstream	 	 	 	 	ENSG00000197927																		rs12996725	0.258187	0	0	1	0	0	upstream	upstream	upstream;downstream	C2orf27A	C2orf27A	ENSG00000197927;ENSG00000213222	Na	Na	Na	Na	Na	Na	Het;A>C	128;2|5	Hom;A>C	276;0|9
N	N	-	2	132532977	132532977	G	C	snp	intergenic	 	 	 	 	C2orf27A	 																	rs34855926	0.241813	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27A(dist=8000),C2orf27B(dist=19557)	C2orf27A(dist=8000),C2orf27B(dist=19557)	ENSG00000197927(dist=8004),ENSG00000223588(dist=1163)	Na	Na	Na	Na	Na	Na	Het;G>C	87;3|5	Hom;G>C	141;0|6
N	N	-	2	132558335	132558335	G	T	snp	intronic	 	 	 	 	C2orf27B	 																	rs12992187	0.365415	0	0	1	0	0	intronic	intronic	intronic	C2orf27B	C2orf27B	ENSG00000186825	Na	Na	Na	Na	Na	Na	Het;G>T	81;4|4	Hom;G>T	346;0|11
N	N	-	2	132558783	132558783	G	C	snp	intronic	 	 	 	 	C2orf27B	 																	rs34982330	0.209265	0	0	1	0	0	intronic	intronic	intronic	C2orf27B	C2orf27B	ENSG00000186825	Na	Na	Na	Na	Na	Na	Het;G>C	41;2|2	Hom;G>C	181;0|6
N	N	-	2	132783544	132783544	T	A	snp	intergenic	 	 	 	 	LINC01945																		rs13407024	0	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=224310),ANKRD30BL(dist=121620)	C2orf27B(dist=224310),ANKRD30BL(dist=121620)	ENSG00000236485(dist=31810),ENSG00000226886(dist=11816)	Na	Na	Na	Na	Na	Na	Het;T>A	74;3|4	Hom;T>A	119;0|4
N	N	-	2	132784039	132784039	A	C	snp	intergenic	 	 	 	 	LINC01945																		rs55715061	0.335663	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=224805),ANKRD30BL(dist=121125)	C2orf27B(dist=224805),ANKRD30BL(dist=121125)	ENSG00000236485(dist=32305),ENSG00000226886(dist=11321)	Na	Na	Na	Na	Na	Na	Het;A>C	137;3|8	Hom;A>C	503;0|16
N	N	-	2	132785115	132785115	T	C	snp	intergenic	 	 	 	 	LINC01945																		rs9752071	0.349241	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=225881),ANKRD30BL(dist=120049)	C2orf27B(dist=225881),ANKRD30BL(dist=120049)	ENSG00000236485(dist=33381),ENSG00000226886(dist=10245)	Na	Na	Na	Na	Na	Na	Het;T>C	93;16|7	Hom;T>C	687;0|23
N	N	-	2	132785504	132785504	T	A	snp	intergenic	 	 	 	 	LINC01945																		rs12999381	0.421326	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=226270),ANKRD30BL(dist=119660)	C2orf27B(dist=226270),ANKRD30BL(dist=119660)	ENSG00000236485(dist=33770),ENSG00000226886(dist=9856)	Na	Na	Na	Na	Na	Na	Het;T>A	38;4|3	Hom;T>A	278;0|11
N	N	-	2	132785574	132785575	TA	T	indel	intergenic	 	 	 	 	LINC01945																		rs35165521	0.421925	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=226340),ANKRD30BL(dist=119589)	C2orf27B(dist=226340),ANKRD30BL(dist=119589)	ENSG00000236485(dist=33840),ENSG00000226886(dist=9785)	Na	Na	Na	Na	Na	Na	Het;-A	65;2|4	Hom;-A	172;0|7
N	N	-	2	132785659	132785659	C	G	snp	intergenic	 	 	 	 	LINC01945																		rs9677912	0.859824	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=226425),ANKRD30BL(dist=119505)	C2orf27B(dist=226425),ANKRD30BL(dist=119505)	ENSG00000236485(dist=33925),ENSG00000226886(dist=9701)	Na	Na	Na	Na	Na	Na	Het;C>G	114;3|6	Hom;C>G	338;0|13
N	N	-	2	132788474	132788474	G	C	snp	intergenic	 	 	 	 	LINC01945																		rs4125660	0.859625	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=229240),ANKRD30BL(dist=116690)	C2orf27B(dist=229240),ANKRD30BL(dist=116690)	ENSG00000236485(dist=36740),ENSG00000226886(dist=6886)	Na	Na	Na	Na	Na	Na	Het;G>C	368;8|10	Hom;G>C	197;0|5
N	N	-	2	132788480	132788481	GT	G	indel	intergenic	 	 	 	 	LINC01945																		rs35303475	0.711661	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf27B(dist=229246),ANKRD30BL(dist=116683)	C2orf27B(dist=229246),ANKRD30BL(dist=116683)	ENSG00000236485(dist=36746),ENSG00000226886(dist=6879)	Na	Na	Na	Na	Na	Na	Het;-T	359;8|10	Hom;-T	188;0|5
N	N	-	2	132794883	132794883	T	G	snp	downstream	 	 	 	 	AC093787.1																		rs62161110	0.434704	0	0	1	0	0	intergenic	intergenic	downstream	C2orf27B(dist=235649),ANKRD30BL(dist=110281)	C2orf27B(dist=235649),ANKRD30BL(dist=110281)	ENSG00000226886	Na	Na	Na	Na	Na	Na	Het;T>G	78;6|5	Hom;T>G	530;0|20
N	N	-	2	132795438	132795438	T	A	snp	ncRNA_exonic	 	 	 	 	AC093787.1																		rs34048106	0.777756	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C2orf27B(dist=236204),ANKRD30BL(dist=109726)	C2orf27B(dist=236204),ANKRD30BL(dist=109726)	ENSG00000226886	Na	Na	Na	Na	Na	Na	Het;T>A	392;7|17	Hom;T>A	1124;0|44
N	N	-	2	132795460	132795460	T	G	snp	ncRNA_exonic	 	 	 	 	AC093787.1																		rs1996144	0.856629	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C2orf27B(dist=236226),ANKRD30BL(dist=109704)	C2orf27B(dist=236226),ANKRD30BL(dist=109704)	ENSG00000226886	Na	Na	Na	Na	Na	Na	Het;T>G	318;9|14	Hom;T>G	1158;0|41
N	N	-	2	132795483	132795483	T	C	snp	ncRNA_exonic	 	 	 	 	AC093787.1																		rs1996145	0.790535	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C2orf27B(dist=236249),ANKRD30BL(dist=109681)	C2orf27B(dist=236249),ANKRD30BL(dist=109681)	ENSG00000226886	Na	Na	Na	Na	Na	Na	Het;T>C	239;6|11	Hom;T>C	800;0|28
N	N	-	2	132795504	132795504	C	CGCCACCCTCCGCA	indel	ncRNA_exonic	 	 	 	 	AC093787.1																		rs138246521	0.485224	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C2orf27B(dist=236270),ANKRD30BL(dist=109660)	C2orf27B(dist=236270),ANKRD30BL(dist=109660)	ENSG00000226886	Na	Na	Na	Na	Na	Na	Het;+GCCACCCTCCGCA	281;6|9	Hom;+GCCACCCTCCGCA	562;0|14
N	N	-	2	133019556	133019556	T	C	snp	upstream	 	 	 	 	CDC27P1																		rs57233869	0	0	0	1	0	0	intergenic	intergenic	upstream	ANKRD30BL(dist=4014),ZNF806(dist=45161)	JA668105(dist=3961),AK094599(dist=42803)	ENSG00000233786	Na	Na	Na	Na	Na	Na	Het;T>C	1600;7|40	Hom;T>C	2267;0|51
N	N	-	2	133111895	133111895	C	T	snp	ncRNA_exonic	 	 	 	 	FAM201B																		rs4390813	0.561502	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ZNF806(dist=35575),GPR39(dist=62252)	AK094599(dist=31586),U6(dist=52430)	ENSG00000230992	Na	Na	Na	Na	Na	Na	Het;C>T	286;25|13	Hom;C>T	1112;0|34
N	N	-	2	133402607	133402607	C	T	snp	UTR3	*1011G>A	 	 	 	LYPD1	Lypd1	ENSG00000150551	LY6/PLAUR domain containing 1	chr2:133402426-133429152		Tobacco Use Disorder	Mice homozygous for a null allele exhibit increased fear and anxiety behaviors with increased spontaneous excitatory postsynaptic current following nicotine treatment.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0001662;behavioral fear response;IEA|GO:0001775;cell activation;IBA|GO:0006501;C-terminal protein lipidation;TAS|GO:0007271;synaptic transmission, cholinergic;IEA|GO:0035094;response to nicotine;IEA|GO:0095500;acetylcholine receptor signaling pathway;IEA|GO:1903077;negative regulation of protein localization to plasma membrane;IEA|GO:2000272;negative regulation of receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA	GO:0030550;acetylcholine receptor inhibitor activity;IEA|GO:0033130;acetylcholine receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYPD1	https://www.uniprot.org/uniprot/Q8N2G4		https://www.ncbi.nlm.nih.gov/omim/?term=610450	http://www.informatics.jax.org/searchtool/Search.do?query=LYPD1&submit=Quick%0D%9327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYPD1	rs1131671	0.474241	0	0	1	0	0	UTR3	UTR3	UTR3	LYPD1(NM_001077427:c.*1011G>A,NM_144586:c.*1011G>A)	LYPD1(uc002ttm.4:c.*1011G>A,uc002ttn.3:c.*1011G>A,uc002tto.3:c.*1011G>A)	ENSG00000150551(ENST00000397463:c.*1011G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	220;12|11	Hom;C>T	575;0|18
N	N	-	2	137075288	137075288	G	A	snp	intergenic	 	 	 	 	HNRNPKP2																		rs13028760	0.276558	0	0	1	0	0	intergenic	intergenic	intergenic	CXCR4(dist=199563),THSD7B(dist=673174)	CXCR4(dist=199563),7SK(dist=72614)	ENSG00000227347(dist=117215),ENSG00000230037(dist=11723)	Na	Na	Na	Na	Na	Na	Het;G>A	1128;63|56	Hom;G>A	2637;0|101
N	N	-	2	137087576	137087576	A	G	snp	upstream	 	 	 	 	UBBP1																		rs5011377	0.562899	0	0	1	0	0	intergenic	intergenic	upstream	CXCR4(dist=211851),THSD7B(dist=660886)	CXCR4(dist=211851),7SK(dist=60326)	ENSG00000230037	Na	Na	Na	Na	Na	Na	Het;A>G	53;2|4	Hom;A>G	184;0|8
N	N	-	2	138208631	138208631	G	T	snp	intronic	 	 	 	 	THSD7B	Thsd7b	ENSG00000144229	thrombospondin type 1 domain containing 7B	chr2:137523115-138435287		Body Weight; Follicle Stimulating Hormone; Cholesterol, HDL; Lipoproteins, VLDL; Exercise Test; Tobacco Use Disorder; Cholesterol; Stroke; Cholesterol, LDL; Receptors, Tumor Necrosis Factor, Type II; Hip; Neuropsychological Tests; Brain; Heart Rate	 	O-glycosylation of TSR domain-containing proteins		GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/THSD7B	https://www.uniprot.org/uniprot/Q9C0I4			http://www.informatics.jax.org/searchtool/Search.do?query=THSD7B&submit=Quick%0D%8583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7B	rs1453302	0.715256	0.6856	0.7063	1	0	0	intronic	intronic	intronic	THSD7B	THSD7B	ENSG00000144229	Na	Na	Na	Na	Na	Na	Het;G>T	231;9|10	Hom;G>T	816;0|28
N	N	-	2	138211966	138211966	G	A	snp	intronic	 	 	 	 	THSD7B	Thsd7b	ENSG00000144229	thrombospondin type 1 domain containing 7B	chr2:137523115-138435287		Body Weight; Follicle Stimulating Hormone; Cholesterol, HDL; Lipoproteins, VLDL; Exercise Test; Tobacco Use Disorder; Cholesterol; Stroke; Cholesterol, LDL; Receptors, Tumor Necrosis Factor, Type II; Hip; Neuropsychological Tests; Brain; Heart Rate	 	O-glycosylation of TSR domain-containing proteins		GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/THSD7B	https://www.uniprot.org/uniprot/Q9C0I4			http://www.informatics.jax.org/searchtool/Search.do?query=THSD7B&submit=Quick%0D%8583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7B	rs10182199	0.821685	0	0	1	0	0	intronic	intronic	intronic	THSD7B	THSD7B	ENSG00000144229	Na	Na	Na	Na	Na	Na	Het;G>A	396;4|12	Hom;G>A	1010;0|25
N	N	-	2	138636314	138636319	CAATAT	C	indel	downstream	 	 	 	 	ENSG00000234007																		rs149422919	0.199481	0	0	1	0	0	downstream	intergenic	downstream	LOC101928273	THSD7B(dist=201027),HNMT(dist=85489)	ENSG00000234007	Na	Na	Na	Na	Na	Na	Het;-AATAT	2258;36|61	Hom;-AATAT	3260;2|82
N	N	-	2	138636976	138636976	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928273																		rs72854921	0.198283	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928273	THSD7B(dist=201689),HNMT(dist=84832)	ENSG00000234007	Na	Na	Na	Na	Na	Na	Het;T>C	2271;93|97	Hom;T>C	5682;0|192
N	N	-	2	138637196	138637196	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101928273																		rs17642263	0.278754	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928273	THSD7B(dist=201909),HNMT(dist=84612)	ENSG00000234007	Na	Na	Na	Na	Na	Na	Het;G>T	956;74|46	Hom;G>T	3180;1|114
N	N	-	2	138727607	138727607	G	A	snp	intronic	 	 	 	 	HNMT	Hnmt	ENSG00000150540	histamine N-methyltransferase	chr2:138721590-138773930	In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]	Essential Tremor|; cortisol histamine; histamine N-methyltransferase activity; Duodenal Ulcer; Urticaria; Dermatitis, Atopic|; respiratory syncytial virus bronchiolitis; Asthma; asthma; bronchial hyperresponsiveness; Hearing Loss; diabetes, type 2; Weight Gain; ulcerative colitis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Cholesterol, HDL; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Parkinson's disease ; alcoholism; urticaria/angioedema; Chronic renal failure|Kidney Failure, Chronic; methylprednisolone pharmacokinetics; Arteries; Migraine Disorders; drug-related genes ; multiple sclerosis; gastric ulcer; erythrocyte histamine N-methyltransferase activity; histamine N-methyltransferase; Parkinson's disease; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit elevated histamine levels in the brain, increased aggression, hypoactivity and altered sleep-wake cycle.	Histidine catabolism	GO:0001695;histamine catabolic process;IDA|GO:0002347;response to tumor cell;IEA|GO:0006548;histidine catabolic process;TAS|GO:0006972;hyperosmotic response;IEA|GO:0007420;brain development;IBA|GO:0007585;respiratory gaseous exchange;TAS|GO:0014075;response to amine;IEA|GO:0032259;methylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042220;response to cocaine;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0070555;response to interleukin-1;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IBA|GO:0070062;extracellular exosome;IDA	GO:0008168;methyltransferase activity;IEA|GO:0008170;N-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046539;histamine N-methyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HNMT	https://www.uniprot.org/uniprot/P50135	https://hpo.jax.org/app/browse/search?q=HNMT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605238	http://www.informatics.jax.org/searchtool/Search.do?query=HNMT&submit=Quick%0D%9326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNMT	rs3100702	0.385184	0	0	1	0	0	intronic	intronic	intronic	HNMT	HNMT	ENSG00000150540	Na	Na	Na	Na	Na	Na	Het;G>A	155;5|6	Hom;G>A	182;0|6
N	N	-	2	13897063	13897063	G	A	snp	ncRNA_intronic	 	 	 	 	AC016730.1																		rs11689406	0.496805	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC100506474(dist=749925),LINC00276(dist=471935)	LOC100506474(dist=749925),BC035112(dist=471935)	ENSG00000227718,ENSG00000230448	Na	Na	Na	Na	Na	Na	Het;G>A	120;6|7	Hom;G>A	79;0|3
N	N	-	2	13897194	13897194	A	G	snp	ncRNA_intronic	 	 	 	 	AC016730.1																		rs7557777	0.735423	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC100506474(dist=750056),LINC00276(dist=471804)	LOC100506474(dist=750056),BC035112(dist=471804)	ENSG00000227718,ENSG00000230448	Na	Na	Na	Na	Na	Na	Het;A>G	84;4|5	Hom;A>G	99;0|4
N	N	-	2	139013402	139013402	T	C	snp	intergenic	 	 	 	 	LINC01832																		rs6724841	0.822085	0	0	1	0	0	intergenic	intergenic	intergenic	HNMT(dist=239468),SPOPL(dist=245948)	HNMT(dist=239468),SPOPL(dist=245948)	ENSG00000224231(dist=149927),ENSG00000233045(dist=22742)	Na	Na	Na	Na	Na	Na	Het;T>C	222;4|8	Hom;T>C	494;0|16
N	N	-	2	139044852	139044852	A	G	snp	downstream	 	 	 	 	YWHAEP5																		rs6726278	0.796326	0	0	1	0	0	intergenic	intergenic	downstream	HNMT(dist=270918),SPOPL(dist=214498)	HNMT(dist=270918),SPOPL(dist=214498)	ENSG00000234645	Na	Na	Na	Na	Na	Na	Het;A>G	209;6|11	Hom;A>G	610;0|21
N	N	-	2	139045972	139045972	T	C	snp	ncRNA_exonic	 	 	 	 	YWHAEP5																		rs6733578	0.796326	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HNMT(dist=272038),SPOPL(dist=213378)	HNMT(dist=272038),SPOPL(dist=213378)	ENSG00000234645	Na	Na	Na	Na	Na	Na	Het;T>C	227;22|11	Hom;T>C	744;0|26
N	N	-	2	139046301	139046301	A	G	snp	ncRNA_exonic	 	 	 	 	YWHAEP5																		rs12691943	0.796126	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HNMT(dist=272367),SPOPL(dist=213049)	HNMT(dist=272367),SPOPL(dist=213049)	ENSG00000234645	Na	Na	Na	Na	Na	Na	Het;A>G	300;20|14	Hom;A>G	680;0|24
N	N	-	2	139046385	139046385	G	A	snp	upstream	 	 	 	 	YWHAEP5																		rs13382964	0.796326	0	0	1	0	0	intergenic	intergenic	upstream	HNMT(dist=272451),SPOPL(dist=212965)	HNMT(dist=272451),SPOPL(dist=212965)	ENSG00000234645	Na	Na	Na	Na	Na	Na	Het;G>A	255;10|13	Hom;G>A	413;0|16
N	N	-	2	141274576	141274576	T	C	snp	synonymous SNV	A8031G	Q2677Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LRP1B	Lrp1b	ENSG00000168702	LDL receptor related protein 1B	chr2:140988992-142889270	This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]	Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction	Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors.		GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP1B			https://www.ncbi.nlm.nih.gov/omim/?term=608766	http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B	rs4954672	0.642372	0.7467	0.7150	1	0	0	exonic	exonic	exonic	LRP1B	LRP1B	ENSG00000168702	synonymous SNV	synonymous SNV	unknown	LRP1B:NM_018557:exon50:c.A8031G:p.Q2677Q,	LRP1B:uc002tvj.1:exon50:c.A8031G:p.Q2677Q,	UNKNOWN	Het;T>C	641;28|30	Hom;T>C	2485;0|87
N	N	-	2	141473409	141473410	CA	C	indel	intronic	 	 	 	 	LRP1B	Lrp1b	ENSG00000168702	LDL receptor related protein 1B	chr2:140988992-142889270	This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]	Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction	Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors.		GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP1B			https://www.ncbi.nlm.nih.gov/omim/?term=608766	http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B	rs10716305	0.376198	0	0	1	0	0	intronic	intronic	intronic	LRP1B	LRP1B	ENSG00000168702	Na	Na	Na	Na	Na	Na	Het;-A	142;1|5	Hom;-A	116;0|4
N	N	-	2	1437410	1437410	C	T	snp	intronic	 	 	 	 	TPO	Tpo	ENSG00000277603	thyroid peroxidase	chr2:1377995-1547483	This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]	hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder	Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months.		GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TPO		https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606765	http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO	rs4927578	0.4373	0.4955	0.5671	1	0	0	intronic	intronic	intronic	TPO	TPO	ENSG00000115705	Na	Na	Na	Na	Na	Na	Het;C>T	762;38|36	Hom;C>T	1700;0|63
N	N	-	2	1441866	1441866	G	A	snp	intronic	 	 	 	 	TPO	Tpo	ENSG00000277603	thyroid peroxidase	chr2:1377995-1547483	This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]	hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder	Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months.		GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TPO		https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606765	http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO	rs12613496	0.460863	0	0	1	0	0	intronic	intronic	intronic	TPO	TPO	ENSG00000115705	Na	Na	Na	Na	Na	Na	Het;G>A	40;4|3	Hom;G>A	409;0|15
N	N	-	2	145281420	145281421	TA	T	indel	ncRNA_intronic	 	 	 	 	LINC01412																		rs3835062	0.842252	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LINC01412	ZEB2_AS1_4(dist=2737),TEX41(dist=144113)	ENSG00000238057(dist=2362),ENSG00000232606(dist=42581)	Na	Na	Na	Na	Na	Na	Het;-A	830;11|50	Hom;-A	655;2|33
N	N	-	2	145381331	145381331	C	T	snp	intergenic	 	 	 	 	LINC01412																		rs10496965	0.149361	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01412(dist=44330),TEX41(dist=44203)	ZEB2_AS1_4(dist=102648),TEX41(dist=44203)	ENSG00000232606(dist=44330),ENSG00000226674(dist=44203)	Na	Na	Na	Na	Na	Na	Het;C>T	426;34|23	Hom;C>T	1353;0|51
N	N	-	2	145381349	145381349	G	A	snp	intergenic	 	 	 	 	LINC01412																		rs75143917	0.144569	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01412(dist=44348),TEX41(dist=44185)	ZEB2_AS1_4(dist=102666),TEX41(dist=44185)	ENSG00000232606(dist=44348),ENSG00000226674(dist=44185)	Na	Na	Na	Na	Na	Na	Het;G>A	259;27|14	Hom;G>A	862;0|32
N	N	-	2	1481155	1481155	G	T	snp	nonsynonymous SNV	G1117T	A373S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	TPO	Tpo	ENSG00000277603	thyroid peroxidase	chr2:1377995-1547483	This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]	hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder	Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months.		GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TPO		https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606765	http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO	rs2280132	0.408147	0.4069	0.4578	0.08	1	13	exonic	exonic	exonic	TPO	TPO	ENSG00000115705	nonsynonymous SNV	nonsynonymous SNV	unknown	TPO:NM_000547:exon8:c.G1117T:p.A373S,TPO:NM_001206745:exon8:c.G1117T:p.A373S,TPO:NM_175719:exon8:c.G1117T:p.A373S,TPO:NM_001206744:exon8:c.G1117T:p.A373S,TPO:NM_175721:exon7:c.G1117T:p.A373S,	TPO:uc002qwu.3:exon8:c.G1117T:p.A373S,TPO:uc002qww.3:exon8:c.G1117T:p.A373S,TPO:uc002qwr.3:exon8:c.G1117T:p.A373S,TPO:uc002qwx.3:exon8:c.G1117T:p.A373S,TPO:uc010yip.2:exon7:c.G1117T:p.A373S,	UNKNOWN	Het;G>T	431;16|20	Hom;G>T	1200;0|42
N	N	-	2	152500449	152500449	C	G	snp	nonsynonymous SNV	G7839C	K2613N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs13013209	0.293331	0.3498	0.4150	0.62	8	13	exonic	exonic	exonic	NEB	NEB	ENSG00000183091	nonsynonymous SNV	nonsynonymous SNV	unknown	NEB:NM_001271208:exon57:c.G7839C:p.K2613N,NEB:NM_004543:exon57:c.G7839C:p.K2613N,NEB:NM_001164508:exon57:c.G7839C:p.K2613N,NEB:NM_001164507:exon57:c.G7839C:p.K2613N,	NEB:uc010fnx.3:exon57:c.G7839C:p.K2613N,NEB:uc031rpp.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrc.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrd.1:exon57:c.G7839C:p.K2613N,NEB:uc002txu.3:exon57:c.G7839C:p.K2613N,NEB:uc021vrb.1:exon55:c.G7839C:p.K2613N,	UNKNOWN	Het;C>G	270;8|12	Hom;C>G	1035;0|34
N	N	-	2	152527572	152527572	C	T	snp	nonsynonymous SNV	G4471A	V1491M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs7426114	0.533147	0.6615	0.7386	0.46	6	13	exonic	exonic	exonic	NEB	NEB	ENSG00000183091	nonsynonymous SNV	nonsynonymous SNV	unknown	NEB:NM_001271208:exon38:c.G4471A:p.V1491M,NEB:NM_004543:exon38:c.G4471A:p.V1491M,NEB:NM_001164508:exon38:c.G4471A:p.V1491M,NEB:NM_001164507:exon38:c.G4471A:p.V1491M,	NEB:uc010fnx.3:exon38:c.G4471A:p.V1491M,NEB:uc031rpp.1:exon38:c.G4471A:p.V1491M,NEB:uc021vrc.1:exon38:c.G4471A:p.V1491M,NEB:uc021vrd.1:exon38:c.G4471A:p.V1491M,NEB:uc002txu.3:exon38:c.G4471A:p.V1491M,NEB:uc021vrb.1:exon36:c.G4471A:p.V1491M,	UNKNOWN	Het;C>T	989;55|51	Hom;C>T	2730;2|97
N	N	-	2	152531077	152531077	A	G	snp	nonsynonymous SNV	T3901C	Y1301H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs6711382	0.716054	0.8178	0.8265	0.15	2	13	exonic	exonic	exonic	NEB	NEB	ENSG00000183091	nonsynonymous SNV	nonsynonymous SNV	unknown	NEB:NM_001271208:exon36:c.T3901C:p.Y1301H,NEB:NM_004543:exon36:c.T3901C:p.Y1301H,NEB:NM_001164508:exon36:c.T3901C:p.Y1301H,NEB:NM_001164507:exon36:c.T3901C:p.Y1301H,	NEB:uc010fnx.3:exon36:c.T3901C:p.Y1301H,NEB:uc031rpp.1:exon36:c.T3901C:p.Y1301H,NEB:uc021vrc.1:exon36:c.T3901C:p.Y1301H,NEB:uc021vrd.1:exon36:c.T3901C:p.Y1301H,NEB:uc002txu.3:exon36:c.T3901C:p.Y1301H,NEB:uc021vrb.1:exon34:c.T3901C:p.Y1301H,	UNKNOWN	Het;A>G	1436;76|69	Hom;A>G	2584;0|92
N	N	-	2	152536498	152536498	T	A	snp	nonsynonymous SNV	A3081T	K1027N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs6735208	0.583466	0.6986	0.7499	0.38	5	13	exonic	exonic	exonic	NEB	NEB	ENSG00000183091	nonsynonymous SNV	nonsynonymous SNV	unknown	NEB:NM_001271208:exon31:c.A3081T:p.K1027N,NEB:NM_004543:exon31:c.A3081T:p.K1027N,NEB:NM_001164508:exon31:c.A3081T:p.K1027N,NEB:NM_001164507:exon31:c.A3081T:p.K1027N,	NEB:uc010fnx.3:exon31:c.A3081T:p.K1027N,NEB:uc031rpp.1:exon31:c.A3081T:p.K1027N,NEB:uc021vrc.1:exon31:c.A3081T:p.K1027N,NEB:uc021vrd.1:exon31:c.A3081T:p.K1027N,NEB:uc002txu.3:exon31:c.A3081T:p.K1027N,NEB:uc021vrb.1:exon29:c.A3081T:p.K1027N,	UNKNOWN	Het;T>A	1697;55|76	Hom;T>A	3812;0|135
N	N	-	2	152552062	152552062	A	C	snp	intronic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs6433569	0.498802	0.6292	0.7263	1	0	0	intronic	intronic	intronic	NEB	NEB	ENSG00000183091	Na	Na	Na	Na	Na	Na	Het;A>C	2411;73|106	Hom;A>C	5732;7|202
N	N	-	2	152566433	152566433	A	G	snp	intronic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs12464543	0.590056	0	0	1	0	0	intronic	intronic	intronic	NEB	NEB	ENSG00000183091	Na	Na	Na	Na	Na	Na	Het;A>G	322;1|10	Hom;A>G	265;0|8
N	N	-	2	152573902	152573902	A	AGGC	indel	intronic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs34733773	0.569289	0.6770	0.7454	1	0	0	intronic	intronic	intronic	NEB	NEB	ENSG00000183091	Na	Na	Na	Na	Na	Na	Het;+GGC	270;31|10	Hom;+GGC	1645;0|38
N	N	-	2	152573981	152573981	A	G	snp	synonymous SNV	T771C	A257A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs4611637	0.569289	0.6861	0.7438	1	0	0	exonic	exonic	exonic	NEB	NEB	ENSG00000183091	synonymous SNV	synonymous SNV	unknown	NEB:NM_001271208:exon10:c.T771C:p.A257A,NEB:NM_004543:exon10:c.T771C:p.A257A,NEB:NM_001164508:exon10:c.T771C:p.A257A,NEB:NM_001164507:exon10:c.T771C:p.A257A,	NEB:uc010fnx.3:exon10:c.T771C:p.A257A,NEB:uc031rpp.1:exon10:c.T771C:p.A257A,NEB:uc021vrc.1:exon10:c.T771C:p.A257A,NEB:uc021vrd.1:exon10:c.T771C:p.A257A,NEB:uc002txu.3:exon10:c.T771C:p.A257A,NEB:uc021vrb.1:exon8:c.T771C:p.A257A,	UNKNOWN	Het;A>G	707;66|39	Hom;A>G	3162;0|119
N	N	-	2	152581866	152581866	T	C	snp	intronic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs4300824	0.661941	0	0	1	0	0	intronic	intronic	intronic	NEB	NEB	ENSG00000183091	Na	Na	Na	Na	Na	Na	Het;T>C	456;15|17	Hom;T>C	1045;0|33
N	N	-	2	152584153	152584153	A	C	snp	intronic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs4664499	0.748203	0	0	1	0	0	intronic	intronic	intronic	NEB	NEB	ENSG00000183091	Na	Na	Na	Na	Na	Na	Het;A>C	111;7|5	Hom;A>C	632;1|21
N	N	-	2	152624986	152624986	C	T	snp	intergenic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs4355107	0.575679	0	0	1	0	0	intergenic	intergenic	intergenic	NEB(dist=33985),ARL5A(dist=32494)	NEB(dist=33985),NONE(dist=NONE)	ENSG00000183091(dist=33985),ENSG00000162980(dist=20606)	Na	Na	Na	Na	Na	Na	Het;C>T	65;19|6	Hom;C>T	541;0|21
N	N	-	2	152625024	152625024	C	A	snp	intergenic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs4614931	0.57528	0	0	1	0	0	intergenic	intergenic	intergenic	NEB(dist=34023),ARL5A(dist=32456)	NEB(dist=34023),NONE(dist=NONE)	ENSG00000183091(dist=34023),ENSG00000162980(dist=20568)	Na	Na	Na	Na	Na	Na	Het;C>A	194;26|12	Hom;C>A	827;0|32
N	N	-	2	152625085	152625085	G	A	snp	intergenic	 	 	 	 	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs4508594	0.575879	0	0	1	0	0	intergenic	intergenic	intergenic	NEB(dist=34084),ARL5A(dist=32395)	NEB(dist=34084),NONE(dist=NONE)	ENSG00000183091(dist=34084),ENSG00000162980(dist=20507)	Na	Na	Na	Na	Na	Na	Het;G>A	223;29|14	Hom;G>A	1079;0|42
N	N	-	2	152668750	152668750	C	A	snp	intronic	 	 	 	 	ARL5A	Arl5a	ENSG00000162980	ADP ribosylation factor like GTPase 5A	chr2:152645498-152685006	The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]		 		GO:0007264;small GTPase mediated signal transduction;IEA	GO:0005622;intracellular;IEA	GO:0000166;nucleotide binding;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL5A			https://www.ncbi.nlm.nih.gov/omim/?term=608960	http://www.informatics.jax.org/searchtool/Search.do?query=ARL5A&submit=Quick%0D%10848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL5A	rs2030588	0.76258	0	0	1	0	0	intronic	intronic	intronic	ARL5A	ARL5A	ENSG00000162980	Na	Na	Na	Na	Na	Na	Het;C>A	232;8|12	Hom;C>A	595;0|23
N	N	-	2	153504552	153504552	G	A	snp	UTR3	*133G>A	 	 	 	FMNL2	Fmnl2	ENSG00000157827	formin like 2	chr2:153191751-153506348	This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]	Blood Pressure; Bilirubin; Autism; Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder	 	RHO GTPases Activate Formins	GO:0007010;cytoskeleton organization;IMP|GO:0016043;cellular component organization;IEA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0030866;cortical actin cytoskeleton organization;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FMNL2			https://www.ncbi.nlm.nih.gov/omim/?term=616285	http://www.informatics.jax.org/searchtool/Search.do?query=FMNL2&submit=Quick%0D%10134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL2	rs12693429	0.384984	0	0	1	0	0	UTR3	UTR3	UTR3	FMNL2(NM_052905:c.*133G>A)	FMNL2(uc002tye.3:c.*133G>A,uc010fob.3:c.*277G>A,uc002tyf.3:c.*242G>A)	ENSG00000157827(ENST00000288670:c.*133G>A,ENST00000475377:c.*277G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	483;7|17	Hom;G>A	577;0|17
N	N	-	2	153717786	153717786	T	G	snp	intergenic	 	 	 	 	AC009969.1																		rs10931338	0.736022	0	0	1	0	0	intergenic	intergenic	intergenic	ARL6IP6(dist=100019),RPRM(dist=616066)	ARL6IP6(dist=100019),RPRM(dist=616066)	ENSG00000234932(dist=10448),ENSG00000226213(dist=15548)	Na	Na	Na	Na	Na	Na	Het;T>G	916;50|44	Hom;T>G	1726;0|67
N	N	-	2	154017678	154017678	G	C	snp	intergenic	 	 	 	 	ATP5F1P4																		rs1369273	0.794728	0	0	1	0	0	intergenic	intergenic	intergenic	ARL6IP6(dist=399911),RPRM(dist=316174)	ARL6IP6(dist=399911),RPRM(dist=316174)	ENSG00000214025(dist=1481),ENSG00000224612(dist=10823)	Na	Na	Na	Na	Na	Na	Het;G>C	50;3|4	Hom;G>C	240;0|9
N	N	-	2	154017833	154017833	G	A	snp	intergenic	 	 	 	 	ATP5F1P4																		rs7598632	0.690495	0	0	1	0	0	intergenic	intergenic	intergenic	ARL6IP6(dist=400066),RPRM(dist=316019)	ARL6IP6(dist=400066),RPRM(dist=316019)	ENSG00000214025(dist=1636),ENSG00000224612(dist=10668)	Na	Na	Na	Na	Na	Na	Het;G>A	180;3|10	Hom;G>A	360;0|14
N	N	-	2	154117763	154117763	G	T	snp	intergenic	 	 	 	 	AC079150.2																		rs10804047	0.696685	0	0	1	0	0	intergenic	intergenic	intergenic	ARL6IP6(dist=499996),RPRM(dist=216089)	ARL6IP6(dist=499996),RPRM(dist=216089)	ENSG00000226338(dist=53086),ENSG00000227708(dist=76456)	Na	Na	Na	Na	Na	Na	Het;G>T	402;56|25	Hom;G>T	2388;0|92
N	N	-	2	154267675	154267677	GTA	G	indel	intergenic	 	 	 	 	RPL23AP29																		rs147897021	0	0	0	1	0	0	intergenic	intergenic	intergenic	ARL6IP6(dist=649908),RPRM(dist=66175)	ARL6IP6(dist=649908),RPRM(dist=66175)	ENSG00000214024(dist=40097),ENSG00000242575(dist=9514)	Na	Na	Na	Na	Na	Na	Het;-TA	70;4|4	Hom;-TA	93;0|4
N	N	-	2	1546327	1546327	C	G	snp	unknown	 	 	 	 	TPO	Tpo	ENSG00000277603	thyroid peroxidase	chr2:1377995-1547483	This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]	hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder	Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months.		GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TPO		https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606765	http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO	rs1042589	0.352636	0.3815	0.4594	1	0	0	UTR3	UTR3	exonic	TPO(NM_001206744:c.*81C>G,NM_175719:c.*81C>G,NM_001206745:c.*81C>G,NM_000547:c.*81C>G,NM_175721:c.*81C>G,NM_175722:c.*81C>G)	TPO(uc002qwr.3:c.*81C>G,uc002qww.3:c.*81C>G,uc002qwx.3:c.*81C>G,uc002qwu.3:c.*81C>G,uc010yio.2:c.*81C>G,uc010yip.2:c.*81C>G)	ENSG00000115705	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>G	811;90|45	Hom;C>G	2256;0|85
N	N	-	2	157031032	157031032	A	G	snp	ncRNA_intronic	 	 	 	 	BC032407																		rs12997268	0.226038	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101929378	BC032407	ENSG00000235548(dist=140440),ENSG00000153234(dist=149912)	Na	Na	Na	Na	Na	Na	Het;A>G	189;3|7	Hom;A>G	110;0|4
N	N	-	2	157031174	157031174	C	T	snp	ncRNA_intronic	 	 	 	 	BC032407																		rs12622398	0.250599	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101929378	BC032407	ENSG00000235548(dist=140582),ENSG00000153234(dist=149770)	Na	Na	Na	Na	Na	Na	Het;C>T	919;42|48	Hom;C>T	2165;0|82
N	N	-	2	158140717	158140717	C	T	snp	intronic	 	 	 	 	GALNT5	Galnt5	ENSG00000136542	polypeptide N-acetylgalactosaminyltransferase 5	chr2:158114110-158170723	The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]		An unpublished knockout mutation is reported to have no overt phenotypic consequences.	O-linked glycosylation of mucins	GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005575;cellular_component;ND|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT5	https://www.uniprot.org/uniprot/Q7Z7M9		https://www.ncbi.nlm.nih.gov/omim/?term=615129	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT5&submit=Quick%0D%7365ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT5	rs2289942	0.279952	0	0	1	0	0	intronic	intronic	intronic	GALNT5	GALNT5	ENSG00000136542	Na	Na	Na	Na	Na	Na	Het;C>T	371;7|14	Hom;C>T	861;0|29
N	N	-	2	158141079	158141079	T	C	snp	intronic	 	 	 	 	GALNT5	Galnt5	ENSG00000136542	polypeptide N-acetylgalactosaminyltransferase 5	chr2:158114110-158170723	The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]		An unpublished knockout mutation is reported to have no overt phenotypic consequences.	O-linked glycosylation of mucins	GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS	GO:0000139;Golgi membrane;TAS|GO:0005575;cellular_component;ND|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT5	https://www.uniprot.org/uniprot/Q7Z7M9		https://www.ncbi.nlm.nih.gov/omim/?term=615129	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT5&submit=Quick%0D%7365ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT5	rs2289941	0.221645	0	0	1	0	0	intronic	intronic	intronic	GALNT5	GALNT5	ENSG00000136542	Na	Na	Na	Na	Na	Na	Het;T>C	61;3|3	Hom;T>C	321;0|10
N	N	-	2	160261721	160261721	T	C	snp	intronic	 	 	 	 	BAZ2B	Baz2b	ENSG00000123636	bromodomain adjacent to zinc finger domain 2B	chr2:160175490-160473203	This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]	Hip; Body Mass Index; Thyrotropin; Lipids; Cholesterol, LDL; Death, Sudden, Cardiac	 		GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAZ2B	https://www.uniprot.org/uniprot/Q9UIF8		https://www.ncbi.nlm.nih.gov/omim/?term=605683	http://www.informatics.jax.org/searchtool/Search.do?query=BAZ2B&submit=Quick%0D%5554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ2B	rs35567166	0.307508	0	0	1	0	0	intronic	intronic	intronic	BAZ2B	BAZ2B	ENSG00000123636	Na	Na	Na	Na	Na	Na	Het;T>C	116;3|4	Hom;T>C	111;0|4
N	N	-	2	160676427	160676427	C	A	snp	nonsynonymous SNV	G3963T	K1321N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	LY75	Ly75	ENSG00000054219	lymphocyte antigen 75	chr2:160628362-160761260			Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology.		GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA	GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LY75	https://www.uniprot.org/uniprot/O60449		https://www.ncbi.nlm.nih.gov/omim/?term=604524	http://www.informatics.jax.org/searchtool/Search.do?query=LY75&submit=Quick%0D%970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LY75	rs12692566	0.845447	0.8487	0.8241	0.17	2	12	exonic	exonic	exonic	LY75,LY75-CD302	LY75,LY75-CD302	ENSG00000054219,ENSG00000248672	nonsynonymous SNV	nonsynonymous SNV	unknown	LY75-CD302:NM_001198759:exon29:c.G3963T:p.K1321N,LY75-CD302:NM_001198760:exon29:c.G3963T:p.K1321N,LY75:NM_002349:exon29:c.G3963T:p.K1321N,	LY75-CD302:uc010fos.3:exon29:c.G3963T:p.K1321N,LY75:uc002ubc.4:exon29:c.G3963T:p.K1321N,LY75-CD302:uc002ubb.4:exon29:c.G3963T:p.K1321N,	UNKNOWN	Het;C>A	871;24|37	Hom;C>A	1504;0|57
N	N	-	2	160676445	160676445	A	AT	indel	intronic	 	 	 	 	LY75	Ly75	ENSG00000054219	lymphocyte antigen 75	chr2:160628362-160761260			Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology.		GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA	GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LY75	https://www.uniprot.org/uniprot/O60449		https://www.ncbi.nlm.nih.gov/omim/?term=604524	http://www.informatics.jax.org/searchtool/Search.do?query=LY75&submit=Quick%0D%970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LY75	rs36120198	0.720847	0.7065	0.7151	1	0	0	intronic	intronic	intronic	LY75,LY75-CD302	LY75,LY75-CD302	ENSG00000054219,ENSG00000248672	Na	Na	Na	Na	Na	Na	Het;+T	520;15|23	Hom;+T	801;0|28
N	N	-	2	160688351	160688351	C	T	snp	intronic	 	 	 	 	LY75	Ly75	ENSG00000054219	lymphocyte antigen 75	chr2:160628362-160761260			Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology.		GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA	GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LY75	https://www.uniprot.org/uniprot/O60449		https://www.ncbi.nlm.nih.gov/omim/?term=604524	http://www.informatics.jax.org/searchtool/Search.do?query=LY75&submit=Quick%0D%970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LY75	rs6755783	0.347644	0	0	1	0	0	intronic	intronic	intronic	LY75,LY75-CD302	LY75,LY75-CD302	ENSG00000054219,ENSG00000248672	Na	Na	Na	Na	Na	Na	Het;C>T	267;8|10	Hom;C>T	1181;0|36
N	N	-	2	160873021	160873021	G	A	snp	intronic	 	 	 	 	PLA2R1	Pla2r1	ENSG00000153246	phospholipase A2 receptor 1	chr2:160788519-160919121	This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors	Homozygous null mice are viable and fertile with no overt abnormalities.  These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.	Synthesis of PA	GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1	https://www.uniprot.org/uniprot/Q13018		https://www.ncbi.nlm.nih.gov/omim/?term=604939	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1	rs2715939	0.702476	0	0	1	0	0	intronic	intronic	intronic	PLA2R1	PLA2R1	ENSG00000153246	Na	Na	Na	Na	Na	Na	Het;G>A	99;3|4	Hom;G>A	199;0|7
N	N	-	2	160873270	160873270	A	G	snp	intronic	 	 	 	 	PLA2R1	Pla2r1	ENSG00000153246	phospholipase A2 receptor 1	chr2:160788519-160919121	This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors	Homozygous null mice are viable and fertile with no overt abnormalities.  These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.	Synthesis of PA	GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1	https://www.uniprot.org/uniprot/Q13018		https://www.ncbi.nlm.nih.gov/omim/?term=604939	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1	rs2667040	0.702676	0.7150	0.7466	1	0	0	intronic	intronic	intronic	PLA2R1	PLA2R1	ENSG00000153246	Na	Na	Na	Na	Na	Na	Het;A>G	216;11|9	Hom;A>G	687;0|23
N	N	-	2	160873294	160873294	T	TA	indel	intronic	 	 	 	 	PLA2R1	Pla2r1	ENSG00000153246	phospholipase A2 receptor 1	chr2:160788519-160919121	This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors	Homozygous null mice are viable and fertile with no overt abnormalities.  These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.	Synthesis of PA	GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1	https://www.uniprot.org/uniprot/Q13018		https://www.ncbi.nlm.nih.gov/omim/?term=604939	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1	rs3833577	0.593051	0	0	1	0	0	intronic	intronic	intronic	PLA2R1	PLA2R1	ENSG00000153246	Na	Na	Na	Na	Na	Na	Het;+A	82;4|5	Hom;+A	309;0|12
N	N	-	2	160876827	160876827	A	G	snp	intronic	 	 	 	 	PLA2R1	Pla2r1	ENSG00000153246	phospholipase A2 receptor 1	chr2:160788519-160919121	This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors	Homozygous null mice are viable and fertile with no overt abnormalities.  These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.	Synthesis of PA	GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1	https://www.uniprot.org/uniprot/Q13018		https://www.ncbi.nlm.nih.gov/omim/?term=604939	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1	rs1511213	0.702476	0	0	1	0	0	intronic	intronic	intronic	PLA2R1	PLA2R1	ENSG00000153246	Na	Na	Na	Na	Na	Na	Het;A>G	748;24|30	Hom;A>G	1211;0|40
N	N	-	2	160889673	160889673	G	A	snp	intronic	 	 	 	 	PLA2R1	Pla2r1	ENSG00000153246	phospholipase A2 receptor 1	chr2:160788519-160919121	This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors	Homozygous null mice are viable and fertile with no overt abnormalities.  These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.	Synthesis of PA	GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1	https://www.uniprot.org/uniprot/Q13018		https://www.ncbi.nlm.nih.gov/omim/?term=604939	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1	rs2203053	0.448682	0.5333	0.5439	1	0	0	intronic	intronic	intronic	PLA2R1	PLA2R1	ENSG00000153246	Na	Na	Na	Na	Na	Na	Het;G>A	819;48|37	Hom;G>A	2814;2|102
N	N	-	2	160901517	160901517	A	G	snp	synonymous SNV	T261C	S87S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PLA2R1	Pla2r1	ENSG00000153246	phospholipase A2 receptor 1	chr2:160788519-160919121	This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors	Homozygous null mice are viable and fertile with no overt abnormalities.  These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.	Synthesis of PA	GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1	https://www.uniprot.org/uniprot/Q13018		https://www.ncbi.nlm.nih.gov/omim/?term=604939	http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1	rs4665143	0.457268	0.4936	0.5737	1	0	0	exonic	exonic	exonic	PLA2R1	PLA2R1	ENSG00000153246	synonymous SNV	synonymous SNV	unknown	PLA2R1:NM_001195641:exon2:c.T261C:p.S87S,PLA2R1:NM_001007267:exon2:c.T261C:p.S87S,PLA2R1:NM_007366:exon2:c.T261C:p.S87S,	PLA2R1:uc002ubf.3:exon2:c.T261C:p.S87S,PLA2R1:uc002ube.2:exon2:c.T261C:p.S87S,PLA2R1:uc010zcp.2:exon2:c.T261C:p.S87S,	UNKNOWN	Het;A>G	1630;77|77	Hom;A>G	3235;0|115
N	N	-	2	161085348	161085348	C	T	snp	intergenic	 	 	 	 	NONE																		rs7560257	0.134784	0	0	1	0	0	intergenic	intergenic	intergenic	ITGB6(dist=28524),LOC100505984(dist=28882)	NONE(dist=NONE),NONE(dist=NONE)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	246;14|13	Hom;C>T	559;0|22
N	N	-	2	161114552	161114552	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100505984																		rs7583157	0.696286	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC100505984	NONE(dist=NONE),RBMS1(dist=14110)	NONE(dist=NONE),ENSG00000153250(dist=14110)	Na	Na	Na	Na	Na	Na	Het;A>G	708;18|28	Hom;A>G	1080;0|39
N	N	-	2	162059969	162059969	A	T	snp	intronic	 	 	 	 	TANK	Tank	ENSG00000136560	TRAF family member associated NFKB activator	chr2:161993419-162092732	The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	Hepatitis C|Remission, Spontaneous; Arthritis, Rheumatoid; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; benzene haematotoxicity; Bone Mineral Density; Multiple Myeloma	Homozygous null mice develop fatal glomerulonephritis owing to deposition of immune complexes.  Dendritic cells, macrophages and B cells from these mice are hyper-responsive to stimuli leading to increased production of immunoglobulins and inflammatory cytokines.	Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon	GO:0006508;proteolysis;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007165;signal transduction;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IEA|GO:0016032;viral process;IEA|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP|GO:0071356;cellular response to tumor necrosis factor;IMP|GO:0071479;cellular response to ionizing radiation;IMP|GO:1903003;positive regulation of protein deubiquitination;IMP|GO:2000158;positive regulation of ubiquitin-specific protease activity;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA	GO:0004843;thiol-dependent ubiquitin-specific protease activity;IMP|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0035800;deubiquitinase activator activity;IMP|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TANK	https://www.uniprot.org/uniprot/Q92844		https://www.ncbi.nlm.nih.gov/omim/?term=603893	http://www.informatics.jax.org/searchtool/Search.do?query=TANK&submit=Quick%0D%7367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TANK	rs11884495	0.417133	0.4229	0.4743	1	0	0	intronic	intronic	intronic	TANK	TANK	ENSG00000136560	Na	Na	Na	Na	Na	Na	Het;A>T	1184;53|60	Hom;A>T	3413;0|126
N	N	-	2	162091836	162091836	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101929512																		rs3754970	0.417532	0.4277	0.4800	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101929512	TANK	ENSG00000235724	Na	Na	Na	Na	Na	Na	Het;T>C	654;34|30	Hom;T>C	1676;0|60
N	N	-	2	162101261	162101261	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100996579																		rs11678980	0.370407	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100996579	AK027541	ENSG00000227403	Na	Na	Na	Na	Na	Na	Het;G>A	1262;51|58	Hom;G>A	2985;0|110
N	N	-	2	162105530	162105530	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100996579																		rs3171840	0.630391	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_exonic	LOC100996579	AK027541	ENSG00000227403	Na	Na	Na	Na	Na	Na	Het;T>C	439;33|19	Hom;T>C	1624;1|57
N	N	-	2	162138441	162138441	T	G	snp	ncRNA_exonic	 	 	 	 	AC009299.1																		rs62196120	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101929512(dist=27287),PSMD14(dist=26345)	AK027541(dist=33200),PSMD14(dist=26345)	ENSG00000225813	Na	Na	Na	Na	Na	Na	Het;T>G	137;1|4	Hom;T>G	175;0|7
N	N	-	2	162138492	162138492	T	C	snp	ncRNA_exonic	 	 	 	 	AC009299.1																		rs62196121	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101929512(dist=27338),PSMD14(dist=26294)	AK027541(dist=33251),PSMD14(dist=26294)	ENSG00000225813	Na	Na	Na	Na	Na	Na	Het;T>C	105;1|4	Hom;T>C	246;0|7
N	N	-	2	162141426	162141428	ATT	A	indel	intergenic	 	 	 	 	AC009299.1																		rs142598462	0.901757	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101929512(dist=30272),PSMD14(dist=23358)	AK027541(dist=36185),PSMD14(dist=23358)	ENSG00000225813(dist=2297),ENSG00000115233(dist=23121)	Na	Na	Na	Na	Na	Na	Het;-TT	174;21|15	Hom;-TT	773;0|26
N	N	-	2	162280748	162280748	G	A	snp	ncRNA_exonic	 	 	 	 	AC009487.3																		rs890076	0.758586	0.7865	0.8231	1	0	0	UTR3	UTR3	ncRNA_exonic	TBR1(NM_006593:c.*10G>A)	TBR1(uc002ubw.1:c.*10G>A,uc010foy.2:c.*10G>A)	ENSG00000251621	Na	Na	Na	Na	Na	Na	Het;G>A	117;15|8	Hom;G>A	1054;0|40
N	N	-	2	162523231	162523231	A	G	snp	intronic	 	 	 	 	SLC4A10	Slc4a10	ENSG00000144290	solute carrier family 4 member 10	chr2:162280843-162841792	This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Hepatitis C|Remission, Spontaneous; Glaucoma, Open-Angle; Tobacco Use Disorder	Mice with homozygous disruption of this gene exhibit reduced brain ventricle volume, reduced neuronal excitability, impaired pH regulation of neurons, and increased threshold to induced seizures.	Bicarbonate transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006820;anion transport;IEA|GO:0006821;chloride transport;NAS|GO:0006885;regulation of pH;IEA|GO:0007399;nervous system development;IBA|GO:0009416;response to light stimulus;IEA|GO:0009791;post-embryonic development;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0021860;pyramidal neuron development;IEA|GO:0030641;regulation of cellular pH;IEA|GO:0035264;multicellular organism growth;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0098656;anion transmembrane transport;IBA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0097440;apical dendrite;IEA|GO:0097441;basilar dendrite;IEA|GO:0097442;CA3 pyramidal cell dendrite;IEA	GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;TAS|GO:0008509;anion transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0015301;anion:anion antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC4A10	https://www.uniprot.org/uniprot/Q6U841		https://www.ncbi.nlm.nih.gov/omim/?term=605556	http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A10&submit=Quick%0D%8590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A10	rs3843854	0.868211	0	0	1	0	0	intronic	intronic	intronic	SLC4A10	SLC4A10	ENSG00000144290	Na	Na	Na	Na	Na	Na	Het;A>G	473;21|23	Hom;A>G	1445;0|54
N	N	-	2	163208893	163208893	T	G	snp	nonsynonymous SNV	T238G	S80A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	GCA	Gca	ENSG00000115271	grancalcin	chr2:163175350-163228105	This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]	multiple sclerosis; Multiple Sclerosis; longevity; Fibrinogen	Mice homozygous for disruptions in this gene are essentially normal.  However they do demonstrate an increased resistance to endotoxic shock.	Neutrophil degranulation	GO:0006508;proteolysis;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0061025;membrane fusion;TAS	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GCA	https://www.uniprot.org/uniprot/P28676		https://www.ncbi.nlm.nih.gov/omim/?term=607030	http://www.informatics.jax.org/searchtool/Search.do?query=GCA&submit=Quick%0D%4572ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCA	rs17783344	0.0521166	0.1066	0.1068	0.33	4	12	exonic	exonic	exonic	GCA	GCA	ENSG00000115271	nonsynonymous SNV	nonsynonymous SNV	unknown	GCA:NM_012198:exon3:c.T238G:p.S80A,	GCA:uc002ucg.3:exon3:c.T238G:p.S80A,	UNKNOWN	Het;T>G	1974;100|97	Hom;T>G	5518;4|211
N	N	-	2	163694878	163694878	C	G	snp	intronic	 	 	 	 	KCNH7	Kcnh7	ENSG00000184611	potassium voltage-gated channel subfamily H member 7	chr2:163227917-163695240	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Cholesterol, HDL; Hip; Myocardial Infarction; multiple sclerosis; Body Weight; Parkinson Disease, Secondary; Creatinine; Body Weight Changes; Multiple Sclerosis; Basophils; Psoriasis; Tobacco Use Disorder; Phospholipids; Respiratory Function Tests; Body Mass Index; Type 2 Diabetes| edema | rosiglitazone	 	Voltage gated Potassium channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNH7			https://www.ncbi.nlm.nih.gov/omim/?term=608169	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH7&submit=Quick%0D%15243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH7	rs4667768	0.606829	0	0	1	0	0	intronic	intronic	intronic	KCNH7	KCNH7	ENSG00000184611	Na	Na	Na	Na	Na	Na	Het;C>G	254;4|7	Hom;C>G	602;0|14
N	N	-	2	163694886	163694886	G	A	snp	intronic	 	 	 	 	KCNH7	Kcnh7	ENSG00000184611	potassium voltage-gated channel subfamily H member 7	chr2:163227917-163695240	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]	Cholesterol, HDL; Hip; Myocardial Infarction; multiple sclerosis; Body Weight; Parkinson Disease, Secondary; Creatinine; Body Weight Changes; Multiple Sclerosis; Basophils; Psoriasis; Tobacco Use Disorder; Phospholipids; Respiratory Function Tests; Body Mass Index; Type 2 Diabetes| edema | rosiglitazone	 	Voltage gated Potassium channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNH7			https://www.ncbi.nlm.nih.gov/omim/?term=608169	http://www.informatics.jax.org/searchtool/Search.do?query=KCNH7&submit=Quick%0D%15243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH7	rs4667769	0.439097	0	0	1	0	0	intronic	intronic	intronic	KCNH7	KCNH7	ENSG00000184611	Na	Na	Na	Na	Na	Na	Het;G>A	277;6|9	Hom;G>A	627;0|15
N	N	-	2	164395069	164395069	A	G	snp	intergenic	 	 	 	 	RNU6-627P																		rs12998828	0.241613	0	0	1	0	0	intergenic	intergenic	intergenic	KCNH7(dist=699812),FIGN(dist=69049)	KCNH7(dist=699812),FIGN(dist=69049)	ENSG00000200902(dist=249463),ENSG00000182263(dist=54837)	Na	Na	Na	Na	Na	Na	Het;A>G	266;18|16	Hom;A>G	1098;0|42
N	N	-	2	164395131	164395131	A	G	snp	intergenic	 	 	 	 	RNU6-627P																		rs2952065	0.53115	0	0	1	0	0	intergenic	intergenic	intergenic	KCNH7(dist=699874),FIGN(dist=68987)	KCNH7(dist=699874),FIGN(dist=68987)	ENSG00000200902(dist=249525),ENSG00000182263(dist=54775)	Na	Na	Na	Na	Na	Na	Het;A>G	220;10|9	Hom;A>G	424;0|15
N	N	-	2	165353712	165353712	C	T	snp	intronic	 	 	 	 	GRB14	Grb14	ENSG00000115290	growth factor receptor bound protein 14	chr2:165349322-165478358	The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Forced Expiratory Volume; Triglycerides; Tobacco Use Disorder; Waist-Hip Ratio; Erythrocyte Count; smoking; Diabetes Mellitus, Type 2	Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size.	Tie2 Signaling	GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050900;leukocyte migration;TAS	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRB14	https://www.uniprot.org/uniprot/Q14449		https://www.ncbi.nlm.nih.gov/omim/?term=601524	http://www.informatics.jax.org/searchtool/Search.do?query=GRB14&submit=Quick%0D%4578ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB14	rs8192673	0.60024	0.7106	0.6715	1	0	0	intronic	intronic	intronic	GRB14	GRB14	ENSG00000115290	Na	Na	Na	Na	Na	Na	Het;C>T	500;28|23	Hom;C>T	1207;0|42
N	N	-	2	165476253	165476253	A	T	snp	nonsynonymous SNV	T268A	F90I	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GRB14	Grb14	ENSG00000115290	growth factor receptor bound protein 14	chr2:165349322-165478358	The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Forced Expiratory Volume; Triglycerides; Tobacco Use Disorder; Waist-Hip Ratio; Erythrocyte Count; smoking; Diabetes Mellitus, Type 2	Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size.	Tie2 Signaling	GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050900;leukocyte migration;TAS	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRB14	https://www.uniprot.org/uniprot/Q14449		https://www.ncbi.nlm.nih.gov/omim/?term=601524	http://www.informatics.jax.org/searchtool/Search.do?query=GRB14&submit=Quick%0D%4578ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB14	rs61748245	0.443091	0.5238	0.6060	0.23	3	13	exonic	exonic	exonic	GRB14	GRB14	ENSG00000115290	nonsynonymous SNV	nonsynonymous SNV	unknown	GRB14:NM_004490:exon2:c.T268A:p.F90I,	GRB14:uc002ucl.3:exon2:c.T268A:p.F90I,	UNKNOWN	Het;A>T	983;60|48	Hom;A>T	2583;2|98
N	N	-	2	165477903	165477903	G	C	snp	UTR5	-84C>G	 	 	 	GRB14	Grb14	ENSG00000115290	growth factor receptor bound protein 14	chr2:165349322-165478358	The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Forced Expiratory Volume; Triglycerides; Tobacco Use Disorder; Waist-Hip Ratio; Erythrocyte Count; smoking; Diabetes Mellitus, Type 2	Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size.	Tie2 Signaling	GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050900;leukocyte migration;TAS	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRB14	https://www.uniprot.org/uniprot/Q14449		https://www.ncbi.nlm.nih.gov/omim/?term=601524	http://www.informatics.jax.org/searchtool/Search.do?query=GRB14&submit=Quick%0D%4578ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB14	rs62173895	0.442492	0	0	1	0	0	UTR5	UTR5	UTR5	GRB14(NM_004490:c.-84C>G)	GRB14(uc002ucl.3:c.-84C>G)	ENSG00000115290(ENST00000263915:c.-84C>G,ENST00000446413:c.-103C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	155;5|7	Hom;G>C	160;0|7
N	N	-	2	166483089	166483089	T	G	snp	intronic	 	 	 	 	CSRNP3	Csrnp3	ENSG00000178662	cysteine and serine rich nuclear protein 3	chr2:166326157-166545917		Alcoholism; Autism; Hip; Bone Density	Mice homozygous for a knock-out allele exhibit normal development, hematopoiesis and T cell function.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0043065;positive regulation of apoptotic process;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS	GO:0005634;nucleus;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSRNP3				http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP3&submit=Quick%0D%14211ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP3	rs73029889	0.0658946	0	0	1	0	0	intronic	intronic	intronic	CSRNP3	CSRNP3	ENSG00000178662	Na	Na	Na	Na	Na	Na	Het;T>G	644;29|30	Hom;T>G	1834;0|65
N	N	-	2	166605010	166605010	A	T	snp	UTR3	*281T>A	 	 	 	GALNT3	Galnt3	ENSG00000115339	polypeptide N-acetylgalactosaminyltransferase 3	chr2:166604101-166651192	This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases.  The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]	diabetes, type 1	Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density.	O-linked glycosylation of mucins	GO:0005975;carbohydrate metabolic process;NAS|GO:0006486;protein glycosylation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT3	https://www.uniprot.org/uniprot/Q14435	https://hpo.jax.org/app/browse/search?q=GALNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601756	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT3&submit=Quick%0D%4587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT3	rs13429321	0.32528	0	0	1	0	0	UTR3	UTR3	UTR3	GALNT3(NM_004482:c.*281T>A)	GALNT3(uc010fph.1:c.*281T>A)	ENSG00000115339(ENST00000392701:c.*281T>A,ENST00000409882:c.*281T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	698;40|34	Hom;A>T	1615;2|62
N	N	-	2	166611006	166611006	C	T	snp	intronic	 	 	 	 	GALNT3	Galnt3	ENSG00000115339	polypeptide N-acetylgalactosaminyltransferase 3	chr2:166604101-166651192	This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases.  The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]	diabetes, type 1	Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density.	O-linked glycosylation of mucins	GO:0005975;carbohydrate metabolic process;NAS|GO:0006486;protein glycosylation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT3	https://www.uniprot.org/uniprot/Q14435	https://hpo.jax.org/app/browse/search?q=GALNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601756	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT3&submit=Quick%0D%4587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT3	rs62174818	0.321286	0	0	1	0	0	intronic	intronic	intronic	GALNT3	GALNT3	ENSG00000115339	Na	Na	Na	Na	Na	Na	Het;C>T	92;2|4	Hom;C>T	226;0|8
N	N	-	2	166611086	166611086	C	T	snp	intronic	 	 	 	 	GALNT3	Galnt3	ENSG00000115339	polypeptide N-acetylgalactosaminyltransferase 3	chr2:166604101-166651192	This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases.  The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]	diabetes, type 1	Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density.	O-linked glycosylation of mucins	GO:0005975;carbohydrate metabolic process;NAS|GO:0006486;protein glycosylation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT3	https://www.uniprot.org/uniprot/Q14435	https://hpo.jax.org/app/browse/search?q=GALNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601756	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT3&submit=Quick%0D%4587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT3	rs41268661	0.321086	0.3917	0.4122	1	0	0	intronic	intronic	intronic	GALNT3	GALNT3	ENSG00000115339	Na	Na	Na	Na	Na	Na	Het;C>T	563;12|27	Hom;C>T	821;0|32
N	N	-	2	166618262	166618262	C	T	snp	splicing	266+1G>A	 	 	 	GALNT3	Galnt3	ENSG00000115339	polypeptide N-acetylgalactosaminyltransferase 3	chr2:166604101-166651192	This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases.  The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]	diabetes, type 1	Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density.	O-linked glycosylation of mucins	GO:0005975;carbohydrate metabolic process;NAS|GO:0006486;protein glycosylation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNT3	https://www.uniprot.org/uniprot/Q14435	https://hpo.jax.org/app/browse/search?q=GALNT3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601756	http://www.informatics.jax.org/searchtool/Search.do?query=GALNT3&submit=Quick%0D%4587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT3	rs1968294	0.398962	0	0.5273	1	0	0	intronic	intronic	splicing	GALNT3	GALNT3	ENSG00000115339(ENST00000437849:exon4:c.266+1G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	55;4|3	Hom;C>T	150;0|5
N	N	-	2	167163043	167163043	T	C	snp	synonymous SNV	A57G	P19P	hydrophobic,neutral	hydrophobic,neutral	SCN9A	Scn9a	ENSG00000169432	sodium voltage-gated channel alpha subunit 9	chr2:167051695-167232503	This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]	personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin	Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality.  Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN9A		https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603415	http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A	rs9646771	0.641174	0.7130	0.6841	1	0	0	exonic	exonic	exonic	SCN9A	SCN9A	ENSG00000169432	synonymous SNV	synonymous SNV	unknown	SCN9A:NM_002977:exon4:c.A444G:p.P148P,	SCN9A:uc002udr.1:exon1:c.A57G:p.P19P,SCN9A:uc002uds.1:exon1:c.A57G:p.P19P,SCN9A:uc002udt.1:exon1:c.A57G:p.P19P,SCN9A:uc010fpl.3:exon4:c.A444G:p.P148P,	UNKNOWN	Het;T>C	173;43|14	Hom;T>C	1160;0|44
N	N	-	2	167163372	167163372	T	C	snp	intronic	 	 	 	 	SCN9A	Scn9a	ENSG00000169432	sodium voltage-gated channel alpha subunit 9	chr2:167051695-167232503	This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]	personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin	Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality.  Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN9A		https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603415	http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A	rs4583483	0.60024	0	0	1	0	0	intronic	intronic	intronic	SCN9A	SCN9A	ENSG00000169432	Na	Na	Na	Na	Na	Na	Het;T>C	131;2|4	Hom;T>C	937;0|20
N	N	-	2	167163373	167163373	C	A	snp	intronic	 	 	 	 	SCN9A	Scn9a	ENSG00000169432	sodium voltage-gated channel alpha subunit 9	chr2:167051695-167232503	This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]	personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin	Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality.  Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN9A		https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603415	http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A	rs4443015	0.60004	0	0	1	0	0	intronic	intronic	intronic	SCN9A	SCN9A	ENSG00000169432	Na	Na	Na	Na	Na	Na	Het;C>A	131;3|4	Hom;C>A	937;0|22
N	N	-	2	167163663	167163663	C	T	snp	intronic	 	 	 	 	SCN9A	Scn9a	ENSG00000169432	sodium voltage-gated channel alpha subunit 9	chr2:167051695-167232503	This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]	personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin	Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality.  Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN9A		https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603415	http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A	rs4447616	0.616014	0	0	1	0	0	intronic	intronic	intronic	SCN9A	SCN9A	ENSG00000169432	Na	Na	Na	Na	Na	Na	Het;C>T	281;27|12	Hom;C>T	1114;0|33
N	N	-	2	167168093	167168093	C	T	snp	synonymous SNV	G174A	Q58Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SCN9A	Scn9a	ENSG00000169432	sodium voltage-gated channel alpha subunit 9	chr2:167051695-167232503	This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]	personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin	Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality.  Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN9A		https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603415	http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A	rs6432901	0.574281	0.6769	0.5874	1	0	0	exonic	exonic	exonic	SCN9A	SCN9A	ENSG00000169432	synonymous SNV	synonymous SNV	unknown	SCN9A:NM_002977:exon2:c.G174A:p.Q58Q,	SCN9A:uc010fpl.3:exon2:c.G174A:p.Q58Q,	UNKNOWN	Het;C>T	988;63|57	Hom;C>T	3118;0|120
N	N	-	2	168570749	168570749	G	A	snp	ncRNA_exonic	 	 	 	 	CTAGE14P																		rs12987185	0.169529	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	XIRP2(dist=454488),B3GALT1(dist=104433)	XIRP2(dist=454488),B3GALT1(dist=104433)	ENSG00000214211	Na	Na	Na	Na	Na	Na	Het;G>A	1679;93|76	Hom;G>A	4215;0|154
N	N	-	2	168570776	168570776	T	C	snp	ncRNA_exonic	 	 	 	 	CTAGE14P																		rs7577697	0.426118	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	XIRP2(dist=454515),B3GALT1(dist=104406)	XIRP2(dist=454515),B3GALT1(dist=104406)	ENSG00000214211	Na	Na	Na	Na	Na	Na	Het;T>C	1857;90|79	Hom;T>C	3849;0|138
N	N	-	2	168571564	168571564	A	G	snp	ncRNA_exonic	 	 	 	 	CTAGE14P																		rs34416992	0.165935	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	XIRP2(dist=455303),B3GALT1(dist=103618)	XIRP2(dist=455303),B3GALT1(dist=103618)	ENSG00000214211	Na	Na	Na	Na	Na	Na	Het;A>G	2913;139|129	Hom;A>G	6680;1|228
N	N	-	2	169487610	169487611	GT	G	indel	intronic	 	 	 	 	CERS6	Cers6	ENSG00000172292	ceramide synthase 6	chr2:169312372-169631644		response to TNF antagonist treatment; Tobacco Use Disorder	Mice homozygous for a knockout allele exhibit hind limb clasping, habituation deficit and altered lipid homeostasis.	Sphingolipid de novo biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0046513;ceramide biosynthetic process;IBA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003677;DNA binding;IEA|GO:0050291;sphingosine N-acyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CERS6			https://www.ncbi.nlm.nih.gov/omim/?term=615336	http://www.informatics.jax.org/searchtool/Search.do?query=CERS6&submit=Quick%0D%13123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CERS6	rs11347055	0.892372	0	0	1	0	0	intronic	intronic	intronic	CERS6	CERS6	ENSG00000172292	Na	Na	Na	Na	Na	Na	Het;-T	380;3|19	Hom;-T	452;0|20
N	N	-	2	169972536	169972536	T	C	snp	downstream	 	 	 	 	UBE2V1P6																		rs2389598	0.567093	0	0	1	0	0	intergenic	intergenic	downstream	DHRS9(dist=19859),LRP2(dist=11083)	DHRS9(dist=19859),LRP2(dist=11083)	ENSG00000235995	Na	Na	Na	Na	Na	Na	Het;T>C	471;15|21	Hom;T>C	1719;0|65
N	N	-	2	169997051	169997051	G	A	snp	synonymous SNV	C13113T	I4371I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LRP2	Lrp2	ENSG00000081479	LDL receptor related protein 2	chr2:169983619-170219195	The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]	Tobacco Use Disorder; Anorexia Nervosa; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Alzheimer's disease ; Cholesterol; Alzheimer's disease; Hypercholesterolemia; Hyperlipidemias; Alcoholism; longevity; prostate cancer; cisplatin toxicity; null; Type 2 Diabetes| edema | rosiglitazone; Uric Acid	Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0003281;ventricular septum development;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006766;vitamin metabolic process;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IEA|GO:0030900;forebrain development;IEA|GO:0035904;aorta development;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0042953;lipoprotein transport;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS	GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031526;brush border membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0042954;lipoprotein transporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP2	https://www.uniprot.org/uniprot/P98164	https://hpo.jax.org/app/browse/search?q=LRP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600073	http://www.informatics.jax.org/searchtool/Search.do?query=LRP2&submit=Quick%0D%1773ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP2	rs990626	0.559505	0.6013	0.6839	1	0	0	exonic	exonic	exonic	LRP2	LRP2	ENSG00000081479	synonymous SNV	synonymous SNV	unknown	LRP2:NM_004525:exon72:c.C13113T:p.I4371I,	LRP2:uc002ues.3:exon72:c.C13113T:p.I4371I,	UNKNOWN	Het;G>A	1165;78|55	Hom;G>A	3000;2|113
N	N	-	2	170000953	170000953	G	A	snp	intronic	 	 	 	 	LRP2	Lrp2	ENSG00000081479	LDL receptor related protein 2	chr2:169983619-170219195	The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]	Tobacco Use Disorder; Anorexia Nervosa; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Alzheimer's disease ; Cholesterol; Alzheimer's disease; Hypercholesterolemia; Hyperlipidemias; Alcoholism; longevity; prostate cancer; cisplatin toxicity; null; Type 2 Diabetes| edema | rosiglitazone; Uric Acid	Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0003281;ventricular septum development;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006766;vitamin metabolic process;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IEA|GO:0030900;forebrain development;IEA|GO:0035904;aorta development;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0042953;lipoprotein transport;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS	GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031526;brush border membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0042954;lipoprotein transporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP2	https://www.uniprot.org/uniprot/P98164	https://hpo.jax.org/app/browse/search?q=LRP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600073	http://www.informatics.jax.org/searchtool/Search.do?query=LRP2&submit=Quick%0D%1773ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP2	rs62172577	0.555312	0	0	1	0	0	intronic	intronic	intronic	LRP2	LRP2	ENSG00000081479	Na	Na	Na	Na	Na	Na	Het;G>A	176;2|5	Hom;G>A	63;0|2
N	N	-	2	170000954	170000954	C	T	snp	intronic	 	 	 	 	LRP2	Lrp2	ENSG00000081479	LDL receptor related protein 2	chr2:169983619-170219195	The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]	Tobacco Use Disorder; Anorexia Nervosa; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Alzheimer's disease ; Cholesterol; Alzheimer's disease; Hypercholesterolemia; Hyperlipidemias; Alcoholism; longevity; prostate cancer; cisplatin toxicity; null; Type 2 Diabetes| edema | rosiglitazone; Uric Acid	Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0003281;ventricular septum development;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006766;vitamin metabolic process;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IEA|GO:0030900;forebrain development;IEA|GO:0035904;aorta development;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0042953;lipoprotein transport;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS	GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031526;brush border membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0042954;lipoprotein transporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP2	https://www.uniprot.org/uniprot/P98164	https://hpo.jax.org/app/browse/search?q=LRP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600073	http://www.informatics.jax.org/searchtool/Search.do?query=LRP2&submit=Quick%0D%1773ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP2	rs62172578	0.553514	0	0	1	0	0	intronic	intronic	intronic	LRP2	LRP2	ENSG00000081479	Na	Na	Na	Na	Na	Na	Het;C>T	176;2|5	Hom;C>T	63;0|2
N	N	-	2	170003432	170003432	T	G	snp	nonsynonymous SNV	A12628C	I4210L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LRP2	Lrp2	ENSG00000081479	LDL receptor related protein 2	chr2:169983619-170219195	The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]	Tobacco Use Disorder; Anorexia Nervosa; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Alzheimer's disease ; Cholesterol; Alzheimer's disease; Hypercholesterolemia; Hyperlipidemias; Alcoholism; longevity; prostate cancer; cisplatin toxicity; null; Type 2 Diabetes| edema | rosiglitazone; Uric Acid	Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0003281;ventricular septum development;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006766;vitamin metabolic process;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IEA|GO:0030900;forebrain development;IEA|GO:0035904;aorta development;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0042953;lipoprotein transport;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS	GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031526;brush border membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0042954;lipoprotein transporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP2	https://www.uniprot.org/uniprot/P98164	https://hpo.jax.org/app/browse/search?q=LRP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600073	http://www.informatics.jax.org/searchtool/Search.do?query=LRP2&submit=Quick%0D%1773ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP2	rs4667591	0.555911	0.6045	0.7176	0.69	9	13	exonic	exonic	exonic	LRP2	LRP2	ENSG00000081479	nonsynonymous SNV	nonsynonymous SNV	unknown	LRP2:NM_004525:exon69:c.A12628C:p.I4210L,	LRP2:uc002ues.3:exon69:c.A12628C:p.I4210L,	UNKNOWN	Het;T>G	1690;79|75	Hom;T>G	3983;0|139
N	N	-	2	170143494	170143494	A	C	snp	intronic	 	 	 	 	LRP2	Lrp2	ENSG00000081479	LDL receptor related protein 2	chr2:169983619-170219195	The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]	Tobacco Use Disorder; Anorexia Nervosa; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Alzheimer's disease ; Cholesterol; Alzheimer's disease; Hypercholesterolemia; Hyperlipidemias; Alcoholism; longevity; prostate cancer; cisplatin toxicity; null; Type 2 Diabetes| edema | rosiglitazone; Uric Acid	Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0003281;ventricular septum development;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006766;vitamin metabolic process;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IEA|GO:0030900;forebrain development;IEA|GO:0035904;aorta development;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0042953;lipoprotein transport;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS	GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031526;brush border membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0042954;lipoprotein transporter activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRP2	https://www.uniprot.org/uniprot/P98164	https://hpo.jax.org/app/browse/search?q=LRP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600073	http://www.informatics.jax.org/searchtool/Search.do?query=LRP2&submit=Quick%0D%1773ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP2	rs3770611	0.558706	0	0	1	0	0	intronic	intronic	intronic	LRP2	LRP2	ENSG00000081479	Na	Na	Na	Na	Na	Na	Het;A>C	38;4|2	Hom;A>C	113;0|5
N	N	-	2	170488454	170488454	A	G	snp	intronic	 	 	 	 	PPIG	Ppig	ENSG00000138398	peptidylprolyl isomerase G	chr2:170440850-170497916		Autism	 		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0008380;RNA splicing;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IDA	GO:0003723;RNA binding;IDA|GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016018;cyclosporin A binding;TAS|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPIG	https://www.uniprot.org/uniprot/Q13427		https://www.ncbi.nlm.nih.gov/omim/?term=606093	http://www.informatics.jax.org/searchtool/Search.do?query=PPIG&submit=Quick%0D%7723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIG	rs3754921	0.584065	0.6208	0.5940	1	0	0	intronic	intronic	intronic	PPIG	PPIG	ENSG00000138398	Na	Na	Na	Na	Na	Na	Het;A>G	263;21|12	Hom;A>G	1185;0|42
N	N	-	2	170492567	170492567	A	G	snp	intronic	 	 	 	 	PPIG	Ppig	ENSG00000138398	peptidylprolyl isomerase G	chr2:170440850-170497916		Autism	 		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0008380;RNA splicing;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IDA	GO:0003723;RNA binding;IDA|GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016018;cyclosporin A binding;TAS|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPIG	https://www.uniprot.org/uniprot/Q13427		https://www.ncbi.nlm.nih.gov/omim/?term=606093	http://www.informatics.jax.org/searchtool/Search.do?query=PPIG&submit=Quick%0D%7723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIG	rs2290007	0.584265	0.6209	0.5726	1	0	0	intronic	intronic	intronic	PPIG	PPIG	ENSG00000138398	Na	Na	Na	Na	Na	Na	Het;A>G	539;19|22	Hom;A>G	1319;1|39
N	N	-	2	170492584	170492584	T	C	snp	intronic	 	 	 	 	PPIG	Ppig	ENSG00000138398	peptidylprolyl isomerase G	chr2:170440850-170497916		Autism	 		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0008380;RNA splicing;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IDA	GO:0003723;RNA binding;IDA|GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016018;cyclosporin A binding;TAS|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPIG	https://www.uniprot.org/uniprot/Q13427		https://www.ncbi.nlm.nih.gov/omim/?term=606093	http://www.informatics.jax.org/searchtool/Search.do?query=PPIG&submit=Quick%0D%7723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIG	rs2290008	0.653954	0.6604	0.6223	1	0	0	intronic	intronic	intronic	PPIG	PPIG	ENSG00000138398	Na	Na	Na	Na	Na	Na	Het;T>C	631;30|25	Hom;T>C	1683;0|51
N	N	-	2	170493103	170493103	T	A	snp	nonsynonymous SNV	T1335A	D445E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PPIG	Ppig	ENSG00000138398	peptidylprolyl isomerase G	chr2:170440850-170497916		Autism	 		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0008380;RNA splicing;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IDA	GO:0003723;RNA binding;IDA|GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016018;cyclosporin A binding;TAS|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPIG	https://www.uniprot.org/uniprot/Q13427		https://www.ncbi.nlm.nih.gov/omim/?term=606093	http://www.informatics.jax.org/searchtool/Search.do?query=PPIG&submit=Quick%0D%7723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIG	rs1050354	0.584265	0.6204	0.5724	0.38	5	13	exonic	exonic	exonic	PPIG	PPIG	ENSG00000138398	nonsynonymous SNV	nonsynonymous SNV	unknown	PPIG:NM_004792:exon14:c.T1335A:p.D445E,	PPIG:uc002uez.3:exon14:c.T1335A:p.D445E,PPIG:uc002ufd.3:exon13:c.T1326A:p.D442E,PPIG:uc010fpy.3:exon11:c.T1314A:p.D438E,PPIG:uc002ufb.3:exon14:c.T1335A:p.D445E,PPIG:uc010fpx.3:exon13:c.T1290A:p.D430E,	UNKNOWN	Het;T>A	538;34|24	Hom;T>A	2103;0|77
N	N	-	2	170550956	170550956	A	C	snp	upstream	 	 	 	 	CCDC173	Ccdc173	ENSG00000154479	coiled-coil domain containing 173	chr2:170501935-170550943			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC173	https://www.uniprot.org/uniprot/Q0VFZ6			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC173&submit=Quick%0D%9774ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC173	rs1446901	0.585863	0	0	1	0	0	upstream	upstream	upstream	CCDC173,PHOSPHO2,PHOSPHO2-KLHL23	CCDC173,PHOSPHO2,PHOSPHO2-KLHL23	ENSG00000144362,ENSG00000154479,ENSG00000213160	Na	Na	Na	Na	Na	Na	Het;A>C	442;42|23	Hom;A>C	1539;0|50
N	N	-	2	170665108	170665108	G	A	snp	intronic	 	 	 	 	SSB	Ssb	ENSG00000138385	Sjogren syndrome antigen B	chr2:170648443-170668574	The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]	HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for disruptions in this gene die as embryos, possible before implantation.	RNA Polymerase III Abortive And Retractive Initiation	GO:0001682;tRNA 5'-leader removal;IGI|GO:0006396;RNA processing;IEA|GO:0006400;tRNA modification;TAS|GO:0006409;tRNA export from nucleus;IMP|GO:0008033;tRNA processing;IMP|GO:0008334;histone mRNA metabolic process;TAS|GO:0042780;tRNA 3'-end processing;IGI|GO:0071045;nuclear histone mRNA catabolic process;IMP|GO:0075522;IRES-dependent viral translational initiation;IDA|GO:1903608;protein localization to cytoplasmic stress granule;IDA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000049;tRNA binding;IMP|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IMP|GO:1990825;sequence-specific mRNA binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/SSB	https://www.uniprot.org/uniprot/P05455		https://www.ncbi.nlm.nih.gov/omim/?term=109090	http://www.informatics.jax.org/searchtool/Search.do?query=SSB&submit=Quick%0D%7720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSB	rs2556352	0.564896	0.6431	0.6549	1	0	0	intronic	intronic	intronic	SSB	SSB	ENSG00000138385	Na	Na	Na	Na	Na	Na	Het;G>A	70;9|4	Hom;G>A	386;0|14
N	N	-	2	170676227	170676227	T	C	snp	intronic	 	 	 	 	METTL5	Mettl5	ENSG00000138382	methyltransferase like 5	chr2:170666591-170681441			 		GO:0032259;methylation;IEA		GO:0003676;nucleic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METTL5	https://www.uniprot.org/uniprot/Q9NRN9			http://www.informatics.jax.org/searchtool/Search.do?query=METTL5&submit=Quick%0D%7719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METTL5	rs1541776	0.701478	0	0	1	0	0	intronic	intronic	intronic	METTL5	METTL5	ENSG00000138382	Na	Na	Na	Na	Na	Na	Het;T>C	287;10|12	Hom;T>C	763;0|27
N	N	-	2	170677855	170677855	G	GT	indel	intronic	 	 	 	 	METTL5	Mettl5	ENSG00000138382	methyltransferase like 5	chr2:170666591-170681441			 		GO:0032259;methylation;IEA		GO:0003676;nucleic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METTL5	https://www.uniprot.org/uniprot/Q9NRN9			http://www.informatics.jax.org/searchtool/Search.do?query=METTL5&submit=Quick%0D%7719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METTL5	rs34089373	0.498003	0	0	1	0	0	intronic	intronic	intronic	METTL5	METTL5	ENSG00000138382	Na	Na	Na	Na	Na	Na	Het;+T	194;15|13	Hom;+T	800;3|36
N	N	-	2	171260708	171260708	C	A	snp	intronic	 	 	 	 	MYO3B	Myo3b	ENSG00000071909	myosin IIIB	chr2:171034655-171511681	This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; Hemoglobins; Cholesterol; Body Weight; Body Height	 		GO:0006468;protein phosphorylation;IEA|GO:0007601;visual perception;IEA|GO:0016310;phosphorylation;IEA|GO:0050896;response to stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO3B	https://www.uniprot.org/uniprot/Q8WXR4		https://www.ncbi.nlm.nih.gov/omim/?term=610040	http://www.informatics.jax.org/searchtool/Search.do?query=MYO3B&submit=Quick%0D%1410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO3B	rs10930425	0.780351	0.8446	0.8520	1	0	0	intronic	intronic	intronic	MYO3B	MYO3B	ENSG00000071909	Na	Na	Na	Na	Na	Na	Het;C>A	459;27|20	Hom;C>A	964;0|35
N	N	-	2	171260787	171260787	G	A	snp	nonsynonymous SNV	G2308A	V770I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MYO3B	Myo3b	ENSG00000071909	myosin IIIB	chr2:171034655-171511681	This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; Hemoglobins; Cholesterol; Body Weight; Body Height	 		GO:0006468;protein phosphorylation;IEA|GO:0007601;visual perception;IEA|GO:0016310;phosphorylation;IEA|GO:0050896;response to stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO3B	https://www.uniprot.org/uniprot/Q8WXR4		https://www.ncbi.nlm.nih.gov/omim/?term=610040	http://www.informatics.jax.org/searchtool/Search.do?query=MYO3B&submit=Quick%0D%1410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO3B	rs6736609	0.780152	0.8445	0.8507	0.23	3	13	exonic	exonic	exonic	MYO3B	MYO3B	ENSG00000071909	nonsynonymous SNV	nonsynonymous SNV	unknown	MYO3B:NM_138995:exon20:c.G2308A:p.V770I,MYO3B:NM_001083615:exon20:c.G2308A:p.V770I,	MYO3B:uc002ufv.4:exon20:c.G2308A:p.V770I,MYO3B:uc002ufy.3:exon20:c.G2308A:p.V770I,MYO3B:uc002ufz.3:exon20:c.G2308A:p.V770I,	UNKNOWN	Het;G>A	1187;66|55	Hom;G>A	3871;0|111
N	N	-	2	171260820	171260820	T	C	snp	synonymous SNV	T2341C	L781L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MYO3B	Myo3b	ENSG00000071909	myosin IIIB	chr2:171034655-171511681	This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; Hemoglobins; Cholesterol; Body Weight; Body Height	 		GO:0006468;protein phosphorylation;IEA|GO:0007601;visual perception;IEA|GO:0016310;phosphorylation;IEA|GO:0050896;response to stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO3B	https://www.uniprot.org/uniprot/Q8WXR4		https://www.ncbi.nlm.nih.gov/omim/?term=610040	http://www.informatics.jax.org/searchtool/Search.do?query=MYO3B&submit=Quick%0D%1410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO3B	rs6751520	0.78095	0.8449	0.8509	1	0	0	exonic	exonic	exonic	MYO3B	MYO3B	ENSG00000071909	synonymous SNV	synonymous SNV	unknown	MYO3B:NM_138995:exon20:c.T2341C:p.L781L,MYO3B:NM_001083615:exon20:c.T2341C:p.L781L,	MYO3B:uc002ufv.4:exon20:c.T2341C:p.L781L,MYO3B:uc002ufy.3:exon20:c.T2341C:p.L781L,MYO3B:uc002ufz.3:exon20:c.T2341C:p.L781L,	UNKNOWN	Het;T>C	1566;69|69	Hom;T>C	3831;0|135
N	N	-	2	171319997	171319997	A	C	snp	intronic	 	 	 	 	MYO3B	Myo3b	ENSG00000071909	myosin IIIB	chr2:171034655-171511681	This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; Hemoglobins; Cholesterol; Body Weight; Body Height	 		GO:0006468;protein phosphorylation;IEA|GO:0007601;visual perception;IEA|GO:0016310;phosphorylation;IEA|GO:0050896;response to stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO3B	https://www.uniprot.org/uniprot/Q8WXR4		https://www.ncbi.nlm.nih.gov/omim/?term=610040	http://www.informatics.jax.org/searchtool/Search.do?query=MYO3B&submit=Quick%0D%1410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO3B	rs12477518	0.355032	0.4907	0.5162	1	0	0	intronic	intronic	intronic	MYO3B	MYO3B	ENSG00000071909	Na	Na	Na	Na	Na	Na	Het;A>C	256;14|14	Hom;A>C	509;0|20
N	N	-	2	172172366	172172366	A	G	snp	intergenic	 	 	 	 	TLK1	Tlk1	ENSG00000198586	tousled like kinase 1	chr2:171847333-172087824	The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Waist Circumference; Waist-Hip Ratio; Lipoproteins; Menopause	 		GO:0001672;regulation of chromatin assembly or disassembly;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006886;intracellular protein transport;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0035556;intracellular signal transduction;IDA	GO:0005634;nucleus;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLK1			https://www.ncbi.nlm.nih.gov/omim/?term=608438	http://www.informatics.jax.org/searchtool/Search.do?query=TLK1&submit=Quick%0D%16934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLK1	rs11687454	0.155751	0	0	1	0	0	intergenic	intergenic	intergenic	TLK1(dist=84542),METTL8(dist=1547)	TLK1(dist=84542),METTL8(dist=1547)	ENSG00000198586(dist=84542),ENSG00000123600(dist=1553)	Na	Na	Na	Na	Na	Na	Het;A>G	707;39|31	Hom;A>G	2518;1|92
N	N	-	2	172216969	172216969	T	C	snp	synonymous SNV	A198G	K66K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	METTL8	Mettl8	ENSG00000123600	methyltransferase like 8	chr2:172173919-172291312			Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of mRNA.		GO:0007519;skeletal muscle tissue development;IEA|GO:0016573;histone acetylation;IEA|GO:0032259;methylation;IEA|GO:0045444;fat cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0004402;histone acetyltransferase activity;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METTL8	https://www.uniprot.org/uniprot/Q9H825		https://www.ncbi.nlm.nih.gov/omim/?term=609525	http://www.informatics.jax.org/searchtool/Search.do?query=METTL8&submit=Quick%0D%5549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METTL8	rs3731986	0.311502	0.3844	0.3084	1	0	0	exonic	exonic	exonic	METTL8	METTL8	ENSG00000123600	unknown	synonymous SNV	unknown	UNKNOWN	METTL8:uc010zdo.2:exon3:c.A198G:p.K66K,METTL8:uc002ugs.4:exon3:c.A48G:p.K16K,METTL8:uc010zdp.2:exon2:c.A63G:p.K21K,METTL8:uc002ugt.4:exon4:c.A198G:p.K66K,METTL8:uc002ugu.4:exon4:c.A198G:p.K66K,	UNKNOWN	Het;T>C	1162;56|59	Hom;T>C	2706;2|103
N	N	-	2	172378818	172378818	A	G	snp	intronic	 	 	 	 	CYBRD1	Cybrd1	ENSG00000071967	cytochrome b reductase 1	chr2:172378757-172414643	This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]	null; Coronary Disease|Coronary heart disease|Myocardial Infarction; iron levels; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Abortion, Spontaneous	Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet.	Iron uptake and transport	GO:0006879;cellular iron ion homeostasis;TAS|GO:0010039;response to iron ion;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005765;lysosomal membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000293;ferric-chelate reductase activity;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016722;oxidoreductase activity, oxidizing metal ions;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYBRD1	https://www.uniprot.org/uniprot/Q53TN4		https://www.ncbi.nlm.nih.gov/omim/?term=605745	http://www.informatics.jax.org/searchtool/Search.do?query=CYBRD1&submit=Quick%0D%1411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYBRD1	rs868106	0.727636	0	0.6403	1	0	0	intronic	intronic	intronic	CYBRD1	CYBRD1	ENSG00000071967	Na	Na	Na	Na	Na	Na	Het;A>G	688;28|33	Hom;A>G	1468;0|54
N	N	-	2	172378889	172378889	C	G	snp	UTR5	-167C>G	 	 	 	CYBRD1	Cybrd1	ENSG00000071967	cytochrome b reductase 1	chr2:172378757-172414643	This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]	null; Coronary Disease|Coronary heart disease|Myocardial Infarction; iron levels; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Abortion, Spontaneous	Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet.	Iron uptake and transport	GO:0006879;cellular iron ion homeostasis;TAS|GO:0010039;response to iron ion;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005765;lysosomal membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000293;ferric-chelate reductase activity;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016722;oxidoreductase activity, oxidizing metal ions;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYBRD1	https://www.uniprot.org/uniprot/Q53TN4		https://www.ncbi.nlm.nih.gov/omim/?term=605745	http://www.informatics.jax.org/searchtool/Search.do?query=CYBRD1&submit=Quick%0D%1411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYBRD1	rs2356782	0.726837	0	0	1	0	0	UTR5	UTR5	UTR5	CYBRD1(NM_024843:c.-167C>G,NM_001127383:c.-167C>G)	CYBRD1(uc002ugy.4:c.-167C>G,uc002ugz.4:c.-167C>G)	ENSG00000071967(ENST00000321348:c.-167C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	320;10|9	Hom;C>G	942;0|22
N	N	-	2	172378893	172378893	G	A	snp	UTR5	-163G>A	 	 	 	CYBRD1	Cybrd1	ENSG00000071967	cytochrome b reductase 1	chr2:172378757-172414643	This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]	null; Coronary Disease|Coronary heart disease|Myocardial Infarction; iron levels; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Abortion, Spontaneous	Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet.	Iron uptake and transport	GO:0006879;cellular iron ion homeostasis;TAS|GO:0010039;response to iron ion;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005765;lysosomal membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000293;ferric-chelate reductase activity;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016722;oxidoreductase activity, oxidizing metal ions;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYBRD1	https://www.uniprot.org/uniprot/Q53TN4		https://www.ncbi.nlm.nih.gov/omim/?term=605745	http://www.informatics.jax.org/searchtool/Search.do?query=CYBRD1&submit=Quick%0D%1411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYBRD1	rs3731976	0.514776	0	0	1	0	0	UTR5	UTR5	UTR5	CYBRD1(NM_024843:c.-163G>A,NM_001127383:c.-163G>A)	CYBRD1(uc002ugy.4:c.-163G>A,uc002ugz.4:c.-163G>A)	ENSG00000071967(ENST00000321348:c.-163G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	320;10|9	Hom;G>A	942;0|21
N	N	-	2	172398311	172398311	T	C	snp	intronic	 	 	 	 	CYBRD1	Cybrd1	ENSG00000071967	cytochrome b reductase 1	chr2:172378757-172414643	This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]	null; Coronary Disease|Coronary heart disease|Myocardial Infarction; iron levels; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Abortion, Spontaneous	Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet.	Iron uptake and transport	GO:0006879;cellular iron ion homeostasis;TAS|GO:0010039;response to iron ion;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005765;lysosomal membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000293;ferric-chelate reductase activity;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016722;oxidoreductase activity, oxidizing metal ions;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYBRD1	https://www.uniprot.org/uniprot/Q53TN4		https://www.ncbi.nlm.nih.gov/omim/?term=605745	http://www.informatics.jax.org/searchtool/Search.do?query=CYBRD1&submit=Quick%0D%1411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYBRD1	rs7586144	0.804313	0.7608	0.7535	1	0	0	intronic	intronic	intronic	CYBRD1	CYBRD1	ENSG00000071967	Na	Na	Na	Na	Na	Na	Het;T>C	704;31|36	Hom;T>C	2229;2|85
N	N	-	2	172411273	172411273	G	A	snp	nonsynonymous SNV	G797A	S266N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CYBRD1	Cybrd1	ENSG00000071967	cytochrome b reductase 1	chr2:172378757-172414643	This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]	null; Coronary Disease|Coronary heart disease|Myocardial Infarction; iron levels; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Abortion, Spontaneous	Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet.	Iron uptake and transport	GO:0006879;cellular iron ion homeostasis;TAS|GO:0010039;response to iron ion;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005765;lysosomal membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000293;ferric-chelate reductase activity;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016722;oxidoreductase activity, oxidizing metal ions;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYBRD1	https://www.uniprot.org/uniprot/Q53TN4		https://www.ncbi.nlm.nih.gov/omim/?term=605745	http://www.informatics.jax.org/searchtool/Search.do?query=CYBRD1&submit=Quick%0D%1411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYBRD1	rs10455	0.683107	0.7339	0.6517	0.15	2	13	exonic	exonic	exonic	CYBRD1	CYBRD1	ENSG00000071967	nonsynonymous SNV	nonsynonymous SNV	unknown	CYBRD1:NM_024843:exon4:c.G797A:p.S266N,CYBRD1:NM_001256909:exon4:c.G623A:p.S208N,	CYBRD1:uc031rqa.1:exon4:c.G623A:p.S208N,CYBRD1:uc002ugy.4:exon4:c.G797A:p.S266N,	UNKNOWN	Het;G>A	1023;67|56	Hom;G>A	3042;0|112
N	N	-	2	173292379	173292379	G	A	snp	UTR5	-138G>A	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs144682022	0.0700879	0	0	1	0	0	UTR5	UTR5	UTR5	ITGA6(NM_000210:c.-138G>A,NM_001079818:c.-138G>A)	ITGA6(uc002uho.1:c.-138G>A,uc002uhp.1:c.-138G>A)	ENSG00000091409(ENST00000264107:c.-138G>A,ENST00000343713:c.-138G>A,ENST00000375221:c.-138G>A,ENST00000264106:c.-138G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	519;10|25	Hom;G>A	916;2|38
N	N	-	2	173292709	173292709	A	G	snp	ncRNA_intronic	 	 	 	 	AC078883.2																		rs6744873	0.500599	0.3208	0.3560	1	0	0	intronic	intronic	ncRNA_intronic	ITGA6	ITGA6	ENSG00000226963	Na	Na	Na	Na	Na	Na	Het;A>G	689;27|19	Hom;A>G	1797;0|41
N	N	-	2	173292713	173292713	C	T	snp	ncRNA_intronic	 	 	 	 	AC078883.2																		rs6716540	0.489018	0.3175	0.3463	1	0	0	intronic	intronic	ncRNA_intronic	ITGA6	ITGA6	ENSG00000226963	Na	Na	Na	Na	Na	Na	Het;C>T	695;24|19	Hom;C>T	1772;0|40
N	N	-	2	173292728	173292728	T	C	snp	ncRNA_intronic	 	 	 	 	AC078883.2																		rs6731763	0.499401	0.3072	0.3573	1	0	0	intronic	intronic	ncRNA_intronic	ITGA6	ITGA6	ENSG00000226963	Na	Na	Na	Na	Na	Na	Het;T>C	308;19|14	Hom;T>C	803;0|29
N	N	-	2	173332115	173332115	G	A	snp	intronic	 	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs2272499	0.572085	0	0	1	0	0	intronic	intronic	intronic	ITGA6	ITGA6	ENSG00000091409	Na	Na	Na	Na	Na	Na	Het;G>A	58;4|3	Hom;G>A	102;0|5
N	N	-	2	173334161	173334161	T	TATGATTTAGTACC	indel	intronic	 	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs147116420	0.604034	0	0	1	0	0	intronic	intronic	intronic	ITGA6	ITGA6	ENSG00000091409	Na	Na	Na	Na	Na	Na	Het;+ATGATTTAGTACC	1011;25|28	Hom;+ATGATTTAGTACC	1368;0|33
N	N	-	2	173337495	173337495	C	T	snp	intronic	 	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs16860497	0.270367	0.0879	0.1919	1	0	0	intronic	intronic	intronic	ITGA6	ITGA6	ENSG00000091409	Na	Na	Na	Na	Na	Na	Het;C>T	850;59|42	Hom;C>T	1829;0|68
N	N	-	2	173340209	173340209	A	C	snp	intronic	 	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs55867175	0.0860623	0	0	1	0	0	intronic	intronic	intronic	ITGA6	ITGA6	ENSG00000091409	Na	Na	Na	Na	Na	Na	Het;A>C	58;6|3	Hom;A>C	219;0|7
N	N	-	2	173344474	173344474	A	G	snp	intronic	 	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs1920979	0.407149	0.4081	0.3710	1	0	0	intronic	intronic	intronic	ITGA6	ITGA6	ENSG00000091409	Na	Na	Na	Na	Na	Na	Het;A>G	1007;56|46	Hom;A>G	2181;0|80
N	N	-	2	173344680	173344680	A	C	snp	intronic	 	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs2293647	0.0734824	0.0407	0.0635	1	0	0	intronic	intronic	intronic	ITGA6	ITGA6	ENSG00000091409	Na	Na	Na	Na	Na	Na	Het;A>C	755;20|31	Hom;A>C	1731;2|65
N	N	-	2	173352157	173352157	A	T	snp	synonymous SNV	A1074T	A358A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs2293648	0.0870607	0.0410	0.0710	1	0	0	exonic	exonic	exonic	ITGA6	ITGA6	ENSG00000091409	synonymous SNV	synonymous SNV	unknown	ITGA6:NM_001079818:exon15:c.A2136T:p.A712A,ITGA6:NM_000210:exon15:c.A2136T:p.A712A,	ITGA6:uc010fqm.1:exon9:c.A1074T:p.A358A,ITGA6:uc002uho.1:exon15:c.A2136T:p.A712A,ITGA6:uc010zdy.1:exon15:c.A1779T:p.A593A,ITGA6:uc002uhp.1:exon15:c.A2136T:p.A712A,	UNKNOWN	Het;A>T	1779;72|77	Hom;A>T	3567;1|127
N	N	-	2	173352824	173352824	C	T	snp	ncRNA_intronic	 	 	 	 	AC078883.1																		rs10930559	0.0888578	0.0417	0.0712	1	0	0	intronic	intronic	ncRNA_intronic	ITGA6	ITGA6	ENSG00000225205	Na	Na	Na	Na	Na	Na	Het;C>T	2781;140|128	Hom;C>T	6108;2|233
N	N	-	2	173353000	173353000	A	AT	indel	ncRNA_intronic	 	 	 	 	AC078883.1																		rs138348628	0.117812	0.0702	0.0786	1	0	0	intronic	intronic	ncRNA_intronic	ITGA6	ITGA6	ENSG00000225205	Na	Na	Na	Na	Na	Na	Het;+T	1670;41|54	Hom;+T	3055;0|82
N	N	-	2	173353060	173353060	G	A	snp	ncRNA_intronic	 	 	 	 	AC078883.1																		rs1319059	0.653754	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ITGA6	ITGA6	ENSG00000225205	Na	Na	Na	Na	Na	Na	Het;G>A	344;13|14	Hom;G>A	989;0|32
N	N	-	2	173369231	173369231	A	G	snp	UTR3	*435A>G	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs17664	0.633986	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	ITGA6(NM_000210:c.*435A>G,NM_001079818:c.*251A>G)	ITGA6(uc010zdy.1:c.*435A>G,uc002uho.1:c.*435A>G,uc002uhp.1:c.*251A>G,uc010fqm.1:c.*435A>G)	ENSG00000225205	Na	Na	Na	Na	Na	Na	Het;A>G	416;53|24	Hom;A>G	2173;0|78
N	N	-	2	173370689	173370689	T	TA	indel	UTR3	*1893T>TA	 	 	 	ITGA6	Itga6	ENSG00000091409	integrin subunit alpha 6	chr2:173292082-173371181	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; Lipoproteins, VLDL; prostate cancer; Echocardiography; Stroke; ovarian cancer; breast cancer ; Prostatic Neoplasms	Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.	Type I hemidesmosome assembly	GO:0007044;cell-substrate junction assembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031581;hemidesmosome assembly;TAS|GO:0031589;cell-substrate adhesion;IMP|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0035878;nail development;IMP|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043588;skin development;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046847;filopodium assembly;IEA|GO:0048565;digestive tract development;IMP|GO:0050873;brown fat cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030056;hemidesmosome;IEA|GO:0030175;filopodium;IEA|GO:0034676;integrin alpha6-beta4 complex;IEA|GO:0045178;basal part of cell;IEA	GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0032403;protein complex binding;IEA|GO:0038132;neuregulin binding;IDA|GO:0043236;laminin binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA6	https://www.uniprot.org/uniprot/P23229	https://hpo.jax.org/app/browse/search?q=ITGA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147556	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA6&submit=Quick%0D%2146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA6	rs139972066	0.0736821	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	ITGA6(NM_000210:c.*1893T>TA,NM_001079818:c.*1709T>TA)	ITGA6(uc010zdy.1:c.*1893T>TA,uc002uho.1:c.*1893T>TA,uc002uhp.1:c.*1709T>TA,uc010fqm.1:c.*1893T>TA)	ENSG00000225205	Na	Na	Na	Na	Na	Na	Het;+A	1131;60|53	Hom;+A	2612;6|98
N	N	-	2	173420024	173420028	CATTT	C	indel	upstream	 	 	 	 	PDK1	Pdk1	ENSG00000152256	pyruvate dehydrogenase kinase 1	chr2:173420101-173489823	Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]	Stroke; Colonic Neoplasms|Rectal Neoplasms; Type 2 diabetes; Acquired Immunodeficiency Syndrome|Disease Progression	 	Signaling by Retinoic Acid	GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0008283;cell proliferation;IMP|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IMP|GO:0010510;regulation of acetyl-CoA biosynthetic process from pyruvate;TAS|GO:0010906;regulation of glucose metabolic process;IMP|GO:0016310;phosphorylation;IEA|GO:0097411;hypoxia-inducible factor-1alpha signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005967;mitochondrial pyruvate dehydrogenase complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004740;pyruvate dehydrogenase (acetyl-transferring) kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDK1	https://www.uniprot.org/uniprot/Q15118		https://www.ncbi.nlm.nih.gov/omim/?term=602524	http://www.informatics.jax.org/searchtool/Search.do?query=PDK1&submit=Quick%0D%9528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDK1	rs3835124	0.0782748	0	0	1	0	0	upstream	upstream	ncRNA_intronic	PDK1	PDK1	ENSG00000225205	Na	Na	Na	Na	Na	Na	Het;-ATTT	359;8|10	Hom;-ATTT	728;0|17
N	N	-	2	173420254	173420254	T	A	snp	ncRNA_exonic	 	 	 	 	AC078883.1																		rs3765065	0.303115	0	0	1	0	0	upstream	UTR5	ncRNA_exonic	PDK1	PDK1(uc010zdz.1:c.-9032T>A)	ENSG00000225205	Na	Na	Na	Na	Na	Na	Het;T>A	1529;91|74	Hom;T>A	4481;2|168
N	N	-	2	173460803	173460803	A	G	snp	UTR3	*106A>G	 	 	 	PDK1	Pdk1	ENSG00000152256	pyruvate dehydrogenase kinase 1	chr2:173420101-173489823	Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]	Stroke; Colonic Neoplasms|Rectal Neoplasms; Type 2 diabetes; Acquired Immunodeficiency Syndrome|Disease Progression	 	Signaling by Retinoic Acid	GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0008283;cell proliferation;IMP|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IMP|GO:0010510;regulation of acetyl-CoA biosynthetic process from pyruvate;TAS|GO:0010906;regulation of glucose metabolic process;IMP|GO:0016310;phosphorylation;IEA|GO:0097411;hypoxia-inducible factor-1alpha signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005967;mitochondrial pyruvate dehydrogenase complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004740;pyruvate dehydrogenase (acetyl-transferring) kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDK1	https://www.uniprot.org/uniprot/Q15118		https://www.ncbi.nlm.nih.gov/omim/?term=602524	http://www.informatics.jax.org/searchtool/Search.do?query=PDK1&submit=Quick%0D%9528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDK1	rs1530864	0.0798722	0	0	1	0	0	UTR3	UTR3	UTR3	PDK1(NM_002610:c.*106A>G,NM_001278549:c.*106A>G)	PDK1(uc002uhs.3:c.*106A>G,uc010zeb.2:c.*106A>G)	ENSG00000152256(ENST00000282077:c.*106A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	44;2|2	Hom;A>G	321;0|10
N	N	-	2	173462593	173462593	C	G	snp	UTR3	*1896C>G	 	 	 	PDK1	Pdk1	ENSG00000152256	pyruvate dehydrogenase kinase 1	chr2:173420101-173489823	Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]	Stroke; Colonic Neoplasms|Rectal Neoplasms; Type 2 diabetes; Acquired Immunodeficiency Syndrome|Disease Progression	 	Signaling by Retinoic Acid	GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0008283;cell proliferation;IMP|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IMP|GO:0010510;regulation of acetyl-CoA biosynthetic process from pyruvate;TAS|GO:0010906;regulation of glucose metabolic process;IMP|GO:0016310;phosphorylation;IEA|GO:0097411;hypoxia-inducible factor-1alpha signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005967;mitochondrial pyruvate dehydrogenase complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004740;pyruvate dehydrogenase (acetyl-transferring) kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDK1	https://www.uniprot.org/uniprot/Q15118		https://www.ncbi.nlm.nih.gov/omim/?term=602524	http://www.informatics.jax.org/searchtool/Search.do?query=PDK1&submit=Quick%0D%9528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDK1	rs70937084	0.0796725	0	0	1	0	0	UTR3	UTR3	UTR3	PDK1(NM_002610:c.*1896C>G,NM_001278549:c.*1896C>G)	PDK1(uc002uhs.3:c.*1896C>G,uc010zeb.2:c.*1896C>G)	ENSG00000152256(ENST00000282077:c.*1896C>G,ENST00000410055:c.*307C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	2902;114|130	Hom;C>G	5969;8|221
N	N	-	2	173463138	173463138	C	A	snp	UTR3	*2441C>A	 	 	 	PDK1	Pdk1	ENSG00000152256	pyruvate dehydrogenase kinase 1	chr2:173420101-173489823	Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]	Stroke; Colonic Neoplasms|Rectal Neoplasms; Type 2 diabetes; Acquired Immunodeficiency Syndrome|Disease Progression	 	Signaling by Retinoic Acid	GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0008283;cell proliferation;IMP|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IMP|GO:0010510;regulation of acetyl-CoA biosynthetic process from pyruvate;TAS|GO:0010906;regulation of glucose metabolic process;IMP|GO:0016310;phosphorylation;IEA|GO:0097411;hypoxia-inducible factor-1alpha signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005967;mitochondrial pyruvate dehydrogenase complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004740;pyruvate dehydrogenase (acetyl-transferring) kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDK1	https://www.uniprot.org/uniprot/Q15118		https://www.ncbi.nlm.nih.gov/omim/?term=602524	http://www.informatics.jax.org/searchtool/Search.do?query=PDK1&submit=Quick%0D%9528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDK1	rs2357637	0.0672923	0	0	1	0	0	UTR3	UTR3	UTR3	PDK1(NM_002610:c.*2441C>A,NM_001278549:c.*2441C>A)	PDK1(uc002uhs.3:c.*2441C>A,uc010zeb.2:c.*2441C>A)	ENSG00000152256(ENST00000282077:c.*2441C>A,ENST00000410055:c.*852C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	1629;94|78	Hom;C>A	4651;2|177
N	N	-	2	173490385	173490385	C	T	snp	downstream	 	 	 	 	PDK1	Pdk1	ENSG00000152256	pyruvate dehydrogenase kinase 1	chr2:173420101-173489823	Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]	Stroke; Colonic Neoplasms|Rectal Neoplasms; Type 2 diabetes; Acquired Immunodeficiency Syndrome|Disease Progression	 	Signaling by Retinoic Acid	GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0008283;cell proliferation;IMP|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IMP|GO:0010510;regulation of acetyl-CoA biosynthetic process from pyruvate;TAS|GO:0010906;regulation of glucose metabolic process;IMP|GO:0016310;phosphorylation;IEA|GO:0097411;hypoxia-inducible factor-1alpha signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005967;mitochondrial pyruvate dehydrogenase complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004740;pyruvate dehydrogenase (acetyl-transferring) kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDK1	https://www.uniprot.org/uniprot/Q15118		https://www.ncbi.nlm.nih.gov/omim/?term=602524	http://www.informatics.jax.org/searchtool/Search.do?query=PDK1&submit=Quick%0D%9528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDK1	rs12693008	0.336861	0	0	1	0	0	intergenic	intergenic	downstream	NONE(dist=NONE),RAPGEF4-AS1(dist=97533)	NONE(dist=NONE),RAPGEF4-AS1(dist=97533)	ENSG00000152256	Na	Na	Na	Na	Na	Na	Het;C>T	932;21|40	Hom;C>T	1399;0|52
N	N	-	2	173588663	173588663	G	T	snp	ncRNA_exonic	 	 	 	 	RAPGEF4-AS1																		rs12612754	0.0830671	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RAPGEF4-AS1	RAPGEF4-AS1	ENSG00000228016	Na	Na	Na	Na	Na	Na	Het;G>T	1754;83|80	Hom;G>T	3057;2|112
N	N	-	2	173589239	173589239	C	G	snp	ncRNA_exonic	 	 	 	 	RAPGEF4-AS1																		rs1376556	0.0830671	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RAPGEF4-AS1	RAPGEF4-AS1	ENSG00000228016	Na	Na	Na	Na	Na	Na	Het;C>G	1730;84|76	Hom;C>G	4228;2|146
N	N	-	2	173590937	173590937	T	TCTCCTTCTAAGGACAAGGGGG	indel	ncRNA_exonic	 	 	 	 	RAPGEF4-AS1																		rs773457247	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RAPGEF4-AS1	RAPGEF4-AS1	ENSG00000228016	Na	Na	Na	Na	Na	Na	Het;+CTCCTTCTAAGGACAAGGGGG	773;92|26	Hom;+CTCCTTCTAAGGACAAGGGGG	2533;0|64
N	N	-	2	174907643	174907643	C	A	snp	upstream	 	 	 	 	RPSAP24																		rs17237062	0.538938	0	0	1	0	0	intergenic	intergenic	upstream	SP3(dist=77213),OLA1(dist=29532)	SP3(dist=77213),OLA1(dist=29532)	ENSG00000235414	Na	Na	Na	Na	Na	Na	Het;C>A	151;2|7	Hom;C>A	405;0|14
N	N	-	2	175207054	175207054	G	T	snp	intergenic	 	 	 	 	SP9	Sp9	ENSG00000217236	Sp9 transcription factor	chr2:175199674-175203220			Mice homozygous for a knock-out allele fail to thrive and exhibit general weakness and postnatal lethality associated with striatum atrophy and loss of striatopallidal medium-sized spiny neurons (MSNs) due to decreased proliferation of striatopallidal MSN progenitors and increased apoptosis.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0030326;embryonic limb morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP9				http://www.informatics.jax.org/searchtool/Search.do?query=SP9&submit=Quick%0D%18374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP9	Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	SP9(dist=4786),CIR1(dist=5824)	SP9(dist=4786),CIR1(dist=5824)	ENSG00000217236(dist=3834),ENSG00000138433(dist=5696)	Na	Na	Na	Na	Na	Na	Het;G>T	212;7|12	Hom;G>T	81;0|3
N	N	-	2	176708774	176708774	G	T	snp	downstream	 	 	 	 	EXTL2P1																		rs7590952	0.798522	0	0	1	0	0	intergenic	intergenic	downstream	ATP5G3(dist=662284),KIAA1715(dist=79846)	ATP5G3(dist=662284),KIAA1715(dist=81636)	ENSG00000223976	Na	Na	Na	Na	Na	Na	Het;G>T	224;10|12	Hom;G>T	668;0|24
N	N	-	2	176788639	176788639	T	C	snp	UTR3	*6056A>G	 	 	 	LNPK																		rs2289971	0.061901	0	0	1	0	0	UTR3	intergenic	UTR3	KIAA1715(NM_001305008:c.*6056A>G,NM_001305009:c.*6056A>G,NM_001305011:c.*6056A>G,NM_030650:c.*6056A>G,NM_001305010:c.*6056A>G)	ATP5G3(dist=742149),KIAA1715(dist=1771)	ENSG00000144320(ENST00000272748:c.*6056A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	497;21|25	Hom;T>C	1213;2|44
N	N	-	2	176789410	176789410	A	AC	indel	UTR3	*5285T>GT	 	 	 	LNPK																		rs201413234	0	0	0	1	0	0	UTR3	intergenic	UTR3	KIAA1715(NM_001305008:c.*5285T>GT,NM_001305009:c.*5285T>GT,NM_001305011:c.*5285T>GT,NM_030650:c.*5285T>GT,NM_001305010:c.*5285T>GT)	ATP5G3(dist=742920),KIAA1715(dist=1000)	ENSG00000144320(ENST00000272748:c.*5285T>GT)	Na	Na	Na	Na	Na	Na	Het;+C	1138;18|30	Hom;+C	2825;0|66
N	N	-	2	176789414	176789415	CA	C	indel	UTR3	*5281_*5280delinsG	 	 	 	LNPK																		rs781773457	0	0	0	1	0	0	UTR3	downstream	UTR3	KIAA1715(NM_001305008:c.*5281_*5280delinsG,NM_001305009:c.*5281_*5280delinsG,NM_001305011:c.*5281_*5280delinsG,NM_030650:c.*5281_*5280delinsG,NM_001305010:c.*5281_*5280delinsG)	KIAA1715	ENSG00000144320(ENST00000272748:c.*5281_*5280delinsG)	Na	Na	Na	Na	Na	Na	Het;-A	1108;17|28	Hom;-A	2643;0|59
N	N	-	2	176789427	176789427	A	C	snp	UTR3	*5268T>G	 	 	 	LNPK																		rs74954281	0.0708866	0	0	1	0	0	UTR3	downstream	UTR3	KIAA1715(NM_001305008:c.*5268T>G,NM_001305009:c.*5268T>G,NM_001305011:c.*5268T>G,NM_030650:c.*5268T>G,NM_001305010:c.*5268T>G)	KIAA1715	ENSG00000144320(ENST00000272748:c.*5268T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	854;13|22	Hom;A>C	2382;0|50
N	N	-	2	176789816	176789816	C	T	snp	UTR3	*4879G>A	 	 	 	LNPK																		rs12477861	0.063099	0	0	1	0	0	UTR3	downstream	UTR3	KIAA1715(NM_001305008:c.*4879G>A,NM_001305009:c.*4879G>A,NM_001305011:c.*4879G>A,NM_030650:c.*4879G>A,NM_001305010:c.*4879G>A)	KIAA1715	ENSG00000144320(ENST00000272748:c.*4879G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1818;78|89	Hom;C>T	3928;0|145
N	N	-	2	176790172	176790172	C	T	snp	UTR3	*4523G>A	 	 	 	LNPK																		rs12477970	0.516573	0	0	1	0	0	UTR3	downstream	UTR3	KIAA1715(NM_001305008:c.*4523G>A,NM_001305009:c.*4523G>A,NM_001305011:c.*4523G>A,NM_030650:c.*4523G>A,NM_001305010:c.*4523G>A)	KIAA1715	ENSG00000144320(ENST00000272748:c.*4523G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	3008;151|84	Hom;C>T	8738;0|203
N	N	-	2	176790182	176790182	A	G	snp	UTR3	*4513T>C	 	 	 	LNPK																		rs12469909	0.0626997	0	0	1	0	0	UTR3	downstream	UTR3	KIAA1715(NM_001305008:c.*4513T>C,NM_001305009:c.*4513T>C,NM_001305011:c.*4513T>C,NM_030650:c.*4513T>C,NM_001305010:c.*4513T>C)	KIAA1715	ENSG00000144320(ENST00000272748:c.*4513T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	2934;152|82	Hom;A>G	5070;2|187
N	N	-	2	176791329	176791329	T	C	snp	UTR3	*3366A>G	 	 	 	LNPK																		rs76606171	0.061901	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*3366A>G,NM_001305009:c.*3366A>G,NM_001305011:c.*3366A>G,NM_030650:c.*3366A>G,NM_001305010:c.*3366A>G)	KIAA1715(uc002ukc.1:c.*3366A>G,uc010zer.1:c.*3366A>G,uc010fqw.1:c.*3366A>G,uc010zes.1:c.*3366A>G,uc002ukd.1:c.*3366A>G)	ENSG00000144320(ENST00000272748:c.*3366A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1042;39|47	Hom;T>C	2110;1|77
N	N	-	2	176791642	176791642	G	A	snp	UTR3	*3053C>T	 	 	 	LNPK																		rs12621733	0.061901	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*3053C>T,NM_001305009:c.*3053C>T,NM_001305011:c.*3053C>T,NM_030650:c.*3053C>T,NM_001305010:c.*3053C>T)	KIAA1715(uc002ukc.1:c.*3053C>T,uc010zer.1:c.*3053C>T,uc010fqw.1:c.*3053C>T,uc010zes.1:c.*3053C>T,uc002ukd.1:c.*3053C>T)	ENSG00000144320(ENST00000272748:c.*3053C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	848;51|44	Hom;G>A	3357;0|123
N	N	-	2	176791759	176791759	A	C	snp	UTR3	*2936T>G	 	 	 	LNPK																		rs7571968	0.517372	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*2936T>G,NM_001305009:c.*2936T>G,NM_001305011:c.*2936T>G,NM_030650:c.*2936T>G,NM_001305010:c.*2936T>G)	KIAA1715(uc002ukc.1:c.*2936T>G,uc010zer.1:c.*2936T>G,uc010fqw.1:c.*2936T>G,uc010zes.1:c.*2936T>G,uc002ukd.1:c.*2936T>G)	ENSG00000144320(ENST00000272748:c.*2936T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	1155;53|54	Hom;A>C	2669;1|95
N	N	-	2	176791882	176791882	A	G	snp	UTR3	*2813T>C	 	 	 	LNPK																		rs12615252	0.0636981	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*2813T>C,NM_001305009:c.*2813T>C,NM_001305011:c.*2813T>C,NM_030650:c.*2813T>C,NM_001305010:c.*2813T>C)	KIAA1715(uc002ukc.1:c.*2813T>C,uc010zer.1:c.*2813T>C,uc010fqw.1:c.*2813T>C,uc010zes.1:c.*2813T>C,uc002ukd.1:c.*2813T>C)	ENSG00000144320(ENST00000272748:c.*2813T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1168;52|53	Hom;A>G	2892;1|103
N	N	-	2	176792116	176792116	C	G	snp	UTR3	*2579G>C	 	 	 	LNPK																		rs76675199	0.061901	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*2579G>C,NM_001305009:c.*2579G>C,NM_001305011:c.*2579G>C,NM_030650:c.*2579G>C,NM_001305010:c.*2579G>C)	KIAA1715(uc002ukc.1:c.*2579G>C,uc010zer.1:c.*2579G>C,uc010fqw.1:c.*2579G>C,uc010zes.1:c.*2579G>C,uc002ukd.1:c.*2579G>C)	ENSG00000144320(ENST00000272748:c.*2579G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	1530;84|69	Hom;C>G	3694;0|125
N	N	-	2	176792330	176792330	C	A	snp	UTR3	*2365G>T	 	 	 	LNPK																		rs78714646	0.0628994	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*2365G>T,NM_001305009:c.*2365G>T,NM_001305011:c.*2365G>T,NM_030650:c.*2365G>T,NM_001305010:c.*2365G>T)	KIAA1715(uc002ukc.1:c.*2365G>T,uc010zer.1:c.*2365G>T,uc010fqw.1:c.*2365G>T,uc010zes.1:c.*2365G>T,uc002ukd.1:c.*2365G>T)	ENSG00000144320(ENST00000272748:c.*2365G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	2180;156|110	Hom;C>A	6246;0|231
N	N	-	2	176792357	176792357	A	G	snp	UTR3	*2338T>C	 	 	 	LNPK																		rs62186993	0.061901	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*2338T>C,NM_001305009:c.*2338T>C,NM_001305011:c.*2338T>C,NM_030650:c.*2338T>C,NM_001305010:c.*2338T>C)	KIAA1715(uc002ukc.1:c.*2338T>C,uc010zer.1:c.*2338T>C,uc010fqw.1:c.*2338T>C,uc010zes.1:c.*2338T>C,uc002ukd.1:c.*2338T>C)	ENSG00000144320(ENST00000272748:c.*2338T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	2213;135|107	Hom;A>G	5632;0|202
N	N	-	2	176792487	176792487	A	AT	indel	UTR3	*2208T>AT	 	 	 	LNPK																		rs113866939	0.511581	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*2208T>AT,NM_001305009:c.*2208T>AT,NM_001305011:c.*2208T>AT,NM_030650:c.*2208T>AT,NM_001305010:c.*2208T>AT)	KIAA1715(uc002ukc.1:c.*2208T>AT,uc010zer.1:c.*2208T>AT,uc010fqw.1:c.*2208T>AT,uc010zes.1:c.*2208T>AT,uc002ukd.1:c.*2208T>AT)	ENSG00000144320(ENST00000272748:c.*2208T>AT)	Na	Na	Na	Na	Na	Na	Het;+T	1461;38|44	Hom;+T	3097;0|79
N	N	-	2	176792805	176792805	T	A	snp	UTR3	*1890A>T	 	 	 	LNPK																		rs12613220	0.0626997	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*1890A>T,NM_001305009:c.*1890A>T,NM_001305011:c.*1890A>T,NM_030650:c.*1890A>T,NM_001305010:c.*1890A>T)	KIAA1715(uc002ukc.1:c.*1890A>T,uc010zer.1:c.*1890A>T,uc010fqw.1:c.*1890A>T,uc010zes.1:c.*1890A>T,uc002ukd.1:c.*1890A>T)	ENSG00000144320(ENST00000272748:c.*1890A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	530;45|28	Hom;T>A	1776;2|66
N	N	-	2	176792929	176792929	G	A	snp	UTR3	*1766C>T	 	 	 	LNPK																		rs12622749	0.0613019	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*1766C>T,NM_001305009:c.*1766C>T,NM_001305011:c.*1766C>T,NM_030650:c.*1766C>T,NM_001305010:c.*1766C>T)	KIAA1715(uc002ukc.1:c.*1766C>T,uc010zer.1:c.*1766C>T,uc010fqw.1:c.*1766C>T,uc010zes.1:c.*1766C>T,uc002ukd.1:c.*1766C>T)	ENSG00000144320(ENST00000272748:c.*1766C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1507;74|76	Hom;G>A	3859;2|150
N	N	-	2	176793016	176793016	G	A	snp	UTR3	*1679C>T	 	 	 	LNPK																		rs12622783	0.0611022	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1715(NM_001305008:c.*1679C>T,NM_001305009:c.*1679C>T,NM_001305011:c.*1679C>T,NM_030650:c.*1679C>T,NM_001305010:c.*1679C>T)	KIAA1715(uc002ukc.1:c.*1679C>T,uc010zer.1:c.*1679C>T,uc010fqw.1:c.*1679C>T,uc010zes.1:c.*1679C>T,uc002ukd.1:c.*1679C>T)	ENSG00000144320(ENST00000272748:c.*1679C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1027;80|53	Hom;G>A	3503;0|127
N	N	-	2	176795003	176795027	AACACACACACACACACACACACAC	A	indel	intronic	 	 	 	 	KIAA1715	Lnp																	rs144394857	0	0	0	1	0	0	intronic	intronic	intronic	KIAA1715	KIAA1715	ENSG00000144320	Na	Na	Na	Na	Na	Na	Het;-ACACACACACACACACACACACAC	288;3|7	Hom;-ACACACACACACACACACACACAC	398;0|10
N	N	-	2	177001292	177001292	C	A	snp	ncRNA_intronic	 	 	 	 	HOXD-AS2																		rs711829	0.834265	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	HOXD-AS2	HOXD-AS2	ENSG00000237380	Na	Na	Na	Na	Na	Na	Het;C>A	44;5|4	Hom;C>A	142;0|6
N	N	-	2	177042087	177042087	A	G	snp	ncRNA_exonic	 	 	 	 	HAGLR																		rs10834	0.412939	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HAGLR	HOXD-AS1	ENSG00000224189	Na	Na	Na	Na	Na	Na	Het;A>G	830;62|37	Hom;A>G	2207;0|73
N	N	-	2	177107092	177107092	G	C	snp	ncRNA_exonic	 	 	 	 	RPSAP25																		rs1851790	0.423323	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HOXD1(dist=51457),MTX2(dist=27031)	HOXD1(dist=51457),MTX2(dist=27031)	ENSG00000230384	Na	Na	Na	Na	Na	Na	Het;G>C	154;5|7	Hom;G>C	578;0|22
N	N	-	2	177107273	177107273	T	C	snp	ncRNA_exonic	 	 	 	 	RPSAP25																		rs10930724	0.491414	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HOXD1(dist=51638),MTX2(dist=26850)	HOXD1(dist=51638),MTX2(dist=26850)	ENSG00000230384	Na	Na	Na	Na	Na	Na	Het;T>C	335;13|16	Hom;T>C	935;0|33
N	N	-	2	177107356	177107356	A	G	snp	ncRNA_exonic	 	 	 	 	RPSAP25																		rs10208410	0.491414	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HOXD1(dist=51721),MTX2(dist=26767)	HOXD1(dist=51721),MTX2(dist=26767)	ENSG00000230384	Na	Na	Na	Na	Na	Na	Het;A>G	431;12|20	Hom;A>G	816;0|30
N	N	-	2	177107556	177107556	A	G	snp	ncRNA_exonic	 	 	 	 	RPSAP25																		rs11694628	0.114217	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HOXD1(dist=51921),MTX2(dist=26567)	HOXD1(dist=51921),MTX2(dist=26567)	ENSG00000230384	Na	Na	Na	Na	Na	Na	Het;A>G	80;2|4	Hom;A>G	427;0|15
N	N	-	2	17836722	17836728	TCACACA	T	indel	UTR3	*61_*67delinsT	 	 	 	VSNL1	Vsnl1	ENSG00000163032	visinin like 1	chr2:17720393-17838285	This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Alzheimer Disease; Schizophrenia	 		GO:0035774;positive regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0045921;positive regulation of exocytosis;IEA|GO:0046676;negative regulation of insulin secretion;IEA	GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VSNL1			https://www.ncbi.nlm.nih.gov/omim/?term=600817	http://www.informatics.jax.org/searchtool/Search.do?query=VSNL1&submit=Quick%0D%10862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VSNL1	Na	0	0	0	1	0	0	UTR3	UTR3	UTR3	VSNL1(NM_003385:c.*61_*67delinsT)	VSNL1(uc002rcm.3:c.*61_*67delinsT)	ENSG00000163032(ENST00000404666:c.*61_*67delinsT,ENST00000295156:c.*61_*67delinsT,ENST00000406397:c.*61_*67delinsT)	Na	Na	Na	Na	Na	Na	Het;-CACACA	64;2|2	Hom;-CACACA	75;0|3
N	N	-	2	178861195	178861197	CAT	C	indel	ncRNA_intronic	 	 	 	 	AC011998.3																		rs36051210	0.380391	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PDE11A	PDE11A	ENSG00000236664	Na	Na	Na	Na	Na	Na	Het;-AT	309;7|14	Hom;-AT	1241;3|34
N	N	-	2	179732997	179732997	A	T	snp	intronic	 	 	 	 	CCDC141	Ccdc141	ENSG00000163492	coiled-coil domain containing 141	chr2:179694484-179914813		Hypertension; Triglycerides	Homozygous knockout impairs migration of neurons in the somatosensory cortex, resulting in increased anxiety and hyperactivity.					http://www.genecards.org/index.php?path=/Search/keyword/CCDC141		https://hpo.jax.org/app/browse/search?q=CCDC141&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616031	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC141&submit=Quick%0D%10981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC141	rs10165253	0.495008	0	0	1	0	0	intronic	intronic	intronic	CCDC141	CCDC141	ENSG00000163492	Na	Na	Na	Na	Na	Na	Het;A>T	57;5|4	Hom;A>T	194;0|7
N	N	-	2	179749971	179749971	T	TAA	indel	intronic	 	 	 	 	CCDC141	Ccdc141	ENSG00000163492	coiled-coil domain containing 141	chr2:179694484-179914813		Hypertension; Triglycerides	Homozygous knockout impairs migration of neurons in the somatosensory cortex, resulting in increased anxiety and hyperactivity.					http://www.genecards.org/index.php?path=/Search/keyword/CCDC141		https://hpo.jax.org/app/browse/search?q=CCDC141&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616031	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC141&submit=Quick%0D%10981ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC141	rs3045637	0.308706	0	0	1	0	0	intronic	intronic	intronic	CCDC141	CCDC141	ENSG00000163492	Na	Na	Na	Na	Na	Na	Het;+AA	85;1|4	Hom;+AA	68;0|3
N	N	-	2	179980070	179980070	G	A	snp	intronic	 	 	 	 	SESTD1	Sestd1	ENSG00000187231	SEC14 and spectrin domain containing 1	chr2:179966419-180129517		Celiac Disease|; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder; Cholesterol	Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour.		GO:1904878;negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;IMP	GO:0034704;calcium channel complex;IPI	GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0010314;phosphatidylinositol-5-phosphate binding;IDA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SESTD1				http://www.informatics.jax.org/searchtool/Search.do?query=SESTD1&submit=Quick%0D%15803ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SESTD1	rs2044479	0.576478	0	0	1	0	0	intronic	intronic	intronic	SESTD1	SESTD1	ENSG00000187231	Na	Na	Na	Na	Na	Na	Het;G>A	143;8|6	Hom;G>A	833;0|27
N	N	-	2	179989039	179989039	G	A	snp	intronic	 	 	 	 	SESTD1	Sestd1	ENSG00000187231	SEC14 and spectrin domain containing 1	chr2:179966419-180129517		Celiac Disease|; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder; Cholesterol	Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour.		GO:1904878;negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;IMP	GO:0034704;calcium channel complex;IPI	GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0010314;phosphatidylinositol-5-phosphate binding;IDA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SESTD1				http://www.informatics.jax.org/searchtool/Search.do?query=SESTD1&submit=Quick%0D%15803ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SESTD1	rs2289992	0.474241	0.4669	0	1	0	0	intronic	intronic	intronic	SESTD1	SESTD1	ENSG00000187231	Na	Na	Na	Na	Na	Na	Het;G>A	44;2|3	Hom;G>A	367;0|13
N	N	-	2	179997177	179997178	AT	A	indel	intronic	 	 	 	 	SESTD1	Sestd1	ENSG00000187231	SEC14 and spectrin domain containing 1	chr2:179966419-180129517		Celiac Disease|; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder; Cholesterol	Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour.		GO:1904878;negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;IMP	GO:0034704;calcium channel complex;IPI	GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0010314;phosphatidylinositol-5-phosphate binding;IDA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SESTD1				http://www.informatics.jax.org/searchtool/Search.do?query=SESTD1&submit=Quick%0D%15803ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SESTD1	rs3214766	0.47484	0.4743	0.3774	1	0	0	intronic	intronic	intronic	SESTD1	SESTD1	ENSG00000187231	Na	Na	Na	Na	Na	Na	Het;-T	380;11|18	Hom;-T	968;0|36
N	N	-	2	183593451	183593452	AT	A	indel	intronic	 	 	 	 	DNAJC10	Dnajc10	ENSG00000077232	DnaJ heat shock protein family (Hsp40) member C10	chr2:183580999-183659191	This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]		Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls.		GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0032781;positive regulation of ATPase activity;IEA|GO:0034975;protein folding in endoplasmic reticulum;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IDA	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034663;endoplasmic reticulum chaperone complex;IDA	GO:0001671;ATPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015036;disulfide oxidoreductase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0051117;ATPase binding;IPI|GO:0051787;misfolded protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNAJC10	https://www.uniprot.org/uniprot/Q8IXB1		https://www.ncbi.nlm.nih.gov/omim/?term=607987	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJC10&submit=Quick%0D%1612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJC10	rs3832045	0.39357	0	0	1	0	0	intronic	intronic	intronic	DNAJC10	DNAJC10	ENSG00000077232	Na	Na	Na	Na	Na	Na	Het;-T	248;14|15	Hom;-T	893;0|37
N	N	-	2	183622319	183622324	AATAAT	A	indel	intronic	 	 	 	 	DNAJC10	Dnajc10	ENSG00000077232	DnaJ heat shock protein family (Hsp40) member C10	chr2:183580999-183659191	This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]		Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls.		GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0032781;positive regulation of ATPase activity;IEA|GO:0034975;protein folding in endoplasmic reticulum;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IDA	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034663;endoplasmic reticulum chaperone complex;IDA	GO:0001671;ATPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015036;disulfide oxidoreductase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0051117;ATPase binding;IPI|GO:0051787;misfolded protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNAJC10	https://www.uniprot.org/uniprot/Q8IXB1		https://www.ncbi.nlm.nih.gov/omim/?term=607987	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJC10&submit=Quick%0D%1612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJC10	rs141152570	0.392572	0	0	1	0	0	intronic	intronic	intronic	DNAJC10	DNAJC10	ENSG00000077232	Na	Na	Na	Na	Na	Na	Het;-ATAAT	306;19|10	Hom;-ATAAT	891;0|21
N	N	-	2	183630256	183630256	G	C	snp	intronic	 	 	 	 	DNAJC10	Dnajc10	ENSG00000077232	DnaJ heat shock protein family (Hsp40) member C10	chr2:183580999-183659191	This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]		Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls.		GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0032781;positive regulation of ATPase activity;IEA|GO:0034975;protein folding in endoplasmic reticulum;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IDA	GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0034663;endoplasmic reticulum chaperone complex;IDA	GO:0001671;ATPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015036;disulfide oxidoreductase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0051117;ATPase binding;IPI|GO:0051787;misfolded protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNAJC10	https://www.uniprot.org/uniprot/Q8IXB1		https://www.ncbi.nlm.nih.gov/omim/?term=607987	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJC10&submit=Quick%0D%1612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJC10	rs9678817	0.396166	0	0	1	0	0	intronic	intronic	intronic	DNAJC10	DNAJC10	ENSG00000077232	Na	Na	Na	Na	Na	Na	Het;G>C	121;15|8	Hom;G>C	501;0|20
N	N	-	2	183963330	183963330	C	A	snp	UTR3	*2944C>A	 	 	 	DUSP19	Dusp19	ENSG00000162999	dual specificity phosphatase 19	chr2:183943287-183964733	Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]		 		GO:0006469;negative regulation of protein kinase activity;ISS|GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043410;positive regulation of MAPK cascade;ISS|GO:0043507;positive regulation of JUN kinase activity;ISS|GO:0043508;negative regulation of JUN kinase activity;ISS|GO:0045860;positive regulation of protein kinase activity;ISS|GO:0046329;negative regulation of JNK cascade;ISS|GO:0046330;positive regulation of JNK cascade;ISS		GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004860;protein kinase inhibitor activity;ISS|GO:0005078;MAP-kinase scaffold activity;ISS|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0008579;JUN kinase phosphatase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0030295;protein kinase activator activity;ISS|GO:0031435;mitogen-activated protein kinase kinase kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/DUSP19			https://www.ncbi.nlm.nih.gov/omim/?term=611437	http://www.informatics.jax.org/searchtool/Search.do?query=DUSP19&submit=Quick%0D%10854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP19	rs2138485	0.688099	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	DUSP19(NM_001142314:c.*2944C>A,NM_080876:c.*2944C>A)	DUSP19(uc002upd.3:c.*2944C>A,uc010frp.3:c.*2944C>A,uc002upe.3:c.*3114C>A)	ENSG00000224643	Na	Na	Na	Na	Na	Na	Het;C>A	1353;93|66	Hom;C>A	3783;0|136
N	N	-	2	184326195	184326195	G	C	snp	intergenic	 	 	 	 	LIN28AP1																		rs1898579	0.172125	0	0	1	0	0	intergenic	intergenic	intergenic	NUP35(dist=299783),MIR548AE1(dist=917507)	NUP35(dist=299787),ZNF804A(dist=1136898)	ENSG00000213120(dist=200421),ENSG00000177855(dist=145975)	Na	Na	Na	Na	Na	Na	Het;G>C	83;2|3	Hom;G>C	273;0|8
N	N	-	2	185326251	185326251	C	T	snp	intergenic	 	 	 	 	MIR548AE1																		rs12693377	0.555511	0	0	1	0	0	intergenic	intergenic	intergenic	MIR548AE1(dist=82480),ZNF804A(dist=136842)	NUP35(dist=1299843),ZNF804A(dist=136842)	ENSG00000266808(dist=82480),ENSG00000170396(dist=136842)	Na	Na	Na	Na	Na	Na	Het;C>T	180;6|9	Hom;C>T	364;0|13
N	N	-	2	185376297	185376297	T	A	snp	intergenic	 	 	 	 	MIR548AE1																		rs1443024	0.385383	0	0	1	0	0	intergenic	intergenic	intergenic	MIR548AE1(dist=132526),ZNF804A(dist=86796)	NUP35(dist=1349889),ZNF804A(dist=86796)	ENSG00000266808(dist=132526),ENSG00000170396(dist=86796)	Na	Na	Na	Na	Na	Na	Het;T>A	56;7|3	Hom;T>A	189;0|6
N	N	-	2	185798504	185798504	A	C	snp	intronic	 	 	 	 	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs4667000	0.48722	0.4291	0.5788	1	0	0	intronic	intronic	intronic	ZNF804A	ZNF804A	ENSG00000170396	Na	Na	Na	Na	Na	Na	Het;A>C	358;24|19	Hom;A>C	1157;0|40
N	N	-	2	185800905	185800905	A	T	snp	nonsynonymous SNV	A782T	Q261L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs12476147	0.619209	0.5777	0.6448	0.08	1	13	exonic	exonic	exonic	ZNF804A	ZNF804A	ENSG00000170396	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF804A:NM_194250:exon4:c.A782T:p.Q261L,	ZNF804A:uc002uph.3:exon4:c.A782T:p.Q261L,	UNKNOWN	Het;A>T	1920;59|85	Hom;A>T	3209;0|118
N	N	-	2	185801747	185801747	G	A	snp	nonsynonymous SNV	G1624A	E542K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs4667001	0.490216	0.4303	0.5776	0.15	2	13	exonic	exonic	exonic	ZNF804A	ZNF804A	ENSG00000170396	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF804A:NM_194250:exon4:c.G1624A:p.E542K,	ZNF804A:uc002uph.3:exon4:c.G1624A:p.E542K,	UNKNOWN	Het;G>A	1230;44|58	Hom;G>A	4181;0|95
N	N	-	2	185802211	185802211	C	CACA	indel	nonframeshift substitution	2088_2088delinsCACA	 	 	 	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs3046266	0.490415	0.4287	0.5768	1	0	0	exonic	exonic	exonic	ZNF804A	ZNF804A	ENSG00000170396	nonframeshift substitution	nonframeshift substitution	unknown	ZNF804A:NM_194250:exon4:c.2088_2088delinsCACA,	ZNF804A:uc002uph.3:exon4:c.2088_2088delinsCACA,	UNKNOWN	Het;+ACA	1301;39|34	Hom;+ACA	4020;0|89
N	N	-	2	185802243	185802243	C	A	snp	nonsynonymous SNV	C2120A	T707K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs1366842	0.490016	0.4288	0.5777	0.08	1	13	exonic	exonic	exonic	ZNF804A	ZNF804A	ENSG00000170396	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF804A:NM_194250:exon4:c.C2120A:p.T707K,	ZNF804A:uc002uph.3:exon4:c.C2120A:p.T707K,	UNKNOWN	Het;C>A	814;41|37	Hom;C>A	3063;0|108
N	N	-	2	185802363	185802363	A	G	snp	nonsynonymous SNV	A2240G	H747R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs12477430	0.704273	0.6846	0.7139	0.08	1	13	exonic	exonic	exonic	ZNF804A	ZNF804A	ENSG00000170396	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF804A:NM_194250:exon4:c.A2240G:p.H747R,	ZNF804A:uc002uph.3:exon4:c.A2240G:p.H747R,	UNKNOWN	Het;A>G	1103;77|52	Hom;A>G	3732;0|130
N	N	-	2	185853355	185853355	C	T	snp	intergenic	 	 	 	 	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs2163065	0.48722	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF804A(dist=49141),LOC101927196(dist=731246)	ZNF804A(dist=49141),DD413621(dist=558517)	ENSG00000170396(dist=49136),ENSG00000225406(dist=558507)	Na	Na	Na	Na	Na	Na	Het;C>T	116;10|8	Hom;C>T	512;0|20
N	N	-	2	186331598	186331598	A	G	snp	intergenic	 	 	 	 	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs2370392	0.258387	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF804A(dist=527384),LOC101927196(dist=253003)	ZNF804A(dist=527384),DD413621(dist=80274)	ENSG00000170396(dist=527379),ENSG00000225406(dist=80264)	Na	Na	Na	Na	Na	Na	Het;A>G	56;5|3	Hom;A>G	284;0|10
N	N	-	2	186331687	186331687	C	T	snp	intergenic	 	 	 	 	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs2370393	0.257188	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF804A(dist=527473),LOC101927196(dist=252914)	ZNF804A(dist=527473),DD413621(dist=80185)	ENSG00000170396(dist=527468),ENSG00000225406(dist=80175)	Na	Na	Na	Na	Na	Na	Het;C>T	632;44|35	Hom;C>T	2082;0|83
N	N	-	2	186331806	186331806	T	A	snp	intergenic	 	 	 	 	ZNF804A	Zfp804a	ENSG00000170396	zinc finger protein 804A	chr2:185463093-185804219	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]	Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A			https://www.ncbi.nlm.nih.gov/omim/?term=612282	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A	rs2370394	0.257188	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF804A(dist=527592),LOC101927196(dist=252795)	ZNF804A(dist=527592),DD413621(dist=80066)	ENSG00000170396(dist=527587),ENSG00000225406(dist=80056)	Na	Na	Na	Na	Na	Na	Het;T>A	190;21|10	Hom;T>A	726;0|27
N	N	-	2	186412410	186412410	A	G	snp	ncRNA_exonic	 	 	 	 	AC080125.1																		rs61751900	0.26238	0	0	1	0	0	intergenic	upstream	ncRNA_exonic	ZNF804A(dist=608196),LOC101927196(dist=172191)	DD413621	ENSG00000225406	Na	Na	Na	Na	Na	Na	Het;A>G	919;48|41	Hom;A>G	3538;0|133
N	N	-	2	186585325	186585325	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927196																		rs3821022	0.271765	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927196	BC039382	ENSG00000226747	Na	Na	Na	Na	Na	Na	Het;A>G	2369;95|110	Hom;A>G	4741;3|176
N	N	-	2	186585383	186585383	C	G	snp	ncRNA_exonic	 	 	 	 	LOC101927196																		rs16827054	0.341454	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927196	BC039382	ENSG00000226747	Na	Na	Na	Na	Na	Na	Het;C>G	1767;83|86	Hom;C>G	4398;2|155
N	N	-	2	186668714	186668714	A	T	snp	nonsynonymous SNV	A14948T	K4983I	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	FSIP2	Fsip2	ENSG00000188738	fibrous sheath interacting protein 2	chr2:186603355-186698017	This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]		 			GO:0005739;mitochondrion;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FSIP2		https://hpo.jax.org/app/browse/search?q=FSIP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615796	http://www.informatics.jax.org/searchtool/Search.do?query=FSIP2&submit=Quick%0D%16097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSIP2	rs17826419	0.029353	0	0.0572	0.60	6	10	exonic	exonic	exonic	FSIP2	FSIP2	ENSG00000188738	nonsynonymous SNV	nonsynonymous SNV	unknown	FSIP2:NM_173651:exon17:c.A14948T:p.K4983I,	FSIP2:uc002upl.3:exon17:c.A14948T:p.K4983I,	UNKNOWN	Het;A>T	1158;44|54	Hom;A>T	2383;0|88
N	N	-	2	187301974	187301974	A	C	snp	intergenic	 	 	 	 	MED28P3																		rs11673938	0.603435	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01473(dist=350930),ZC3H15(dist=48911)	FSIP2(dist=603958),ZC3H15(dist=48911)	ENSG00000227692(dist=72119),ENSG00000065548(dist=48909)	Na	Na	Na	Na	Na	Na	Het;A>C	50;1|3	Hom;A>C	255;0|11
N	N	-	2	187351020	187351020	C	T	snp	UTR5	-90C>T	 	 	 	ZC3H15	Zc3h15	ENSG00000065548	zinc finger CCCH-type containing 15	chr2:187350883-187374090			 		GO:0019221;cytokine-mediated signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H15	https://www.uniprot.org/uniprot/Q8WU90			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H15&submit=Quick%0D%1181ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H15	rs112632752	0.0157748	0	0	1	0	0	UTR5	UTR5	UTR5	ZC3H15(NM_018471:c.-90C>T)	ZC3H15(uc002upo.3:c.-90C>T)	ENSG00000065548(ENST00000337859:c.-90C>T,ENST00000544130:c.-17820C>T,ENST00000421536:c.-90C>T,ENST00000437396:c.-90C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	67;4|3	Hom;C>T	202;0|6
N	N	-	2	187364878	187364878	A	G	snp	intronic	 	 	 	 	ZC3H15	Zc3h15	ENSG00000065548	zinc finger CCCH-type containing 15	chr2:187350883-187374090			 		GO:0019221;cytokine-mediated signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3H15	https://www.uniprot.org/uniprot/Q8WU90			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H15&submit=Quick%0D%1181ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H15	rs4144785	0.326478	0.3106	0.3886	1	0	0	intronic	intronic	intronic	ZC3H15	ZC3H15	ENSG00000065548,ENSG00000213953	Na	Na	Na	Na	Na	Na	Het;A>G	796;24|31	Hom;A>G	1979;0|66
N	N	-	2	187498254	187498254	T	C	snp	intronic	 	 	 	 	ITGAV	Itgav	ENSG00000138448	integrin subunit alpha V	chr2:187454792-187545628	The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]	blood pressure; Tobacco Use Disorder; rheumatoid arthritis; Carcinoma, Hepatocellular|Hepatitis B, Chronic; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; priapism; Arthritis, Rheumatoid|; breast cancer 	Homozygotes for a targeted null mutation exhibit placental defects, intracerebral and intestinal hemorrhages, and cleft palate, resulting in death occurring as early as midgestation and as late as shortly after birth.	Neutrophil degranulation	GO:0001525;angiogenesis;IEP|GO:0001568;blood vessel development;IEA|GO:0001570;vasculogenesis;IEA|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007155;cell adhesion;IDA|GO:0007160;cell-matrix adhesion;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;IMP|GO:0010888;negative regulation of lipid storage;IMP|GO:0016032;viral process;IEA|GO:0016049;cell growth;IMP|GO:0016477;cell migration;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0031589;cell-substrate adhesion;IMP|GO:0032369;negative regulation of lipid transport;IMP|GO:0033627;cell adhesion mediated by integrin;IDA|GO:0033690;positive regulation of osteoblast proliferation;IEA|GO:0034113;heterotypic cell-cell adhesion;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035987;endodermal cell differentiation;IMP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IMP|GO:0038044;transforming growth factor-beta secretion;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045715;negative regulation of low-density lipoprotein particle receptor biosynthetic process;IMP|GO:0045785;positive regulation of cell adhesion;IDA|GO:0046718;viral entry into host cell;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0050748;negative regulation of lipoprotein metabolic process;IMP|GO:0050764;regulation of phagocytosis;IDA|GO:0050900;leukocyte migration;TAS|GO:0050919;negative chemotaxis;IMP|GO:0052066;entry of symbiont into host cell by promotion of host phagocytosis;NAS|GO:0070371;ERK1 and ERK2 cascade;ISS|GO:0070588;calcium ion transmembrane transport;IDA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;ISS|GO:2000425;regulation of apoptotic cell clearance;ISS|GO:2000536;negative regulation of entry of bacterium into host cell;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;ISS|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031258;lamellipodium membrane;IDA|GO:0031527;filopodium membrane;IDA|GO:0031528;microvillus membrane;IDA|GO:0032587;ruffle membrane;IDA|GO:0034683;integrin alphav-beta3 complex;IDA|GO:0034684;integrin alphav-beta5 complex;IDA|GO:0034685;integrin alphav-beta6 complex;IEA|GO:0034686;integrin alphav-beta8 complex;IDA|GO:0035579;specific granule membrane;TAS|GO:0035867;alphav-beta3 integrin-IGF-1-IGF1R complex;IDA|GO:0045335;phagocytic vesicle;TAS|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0001846;opsonin binding;ISS|GO:0001968;fibronectin binding;IDA|GO:0002020;protease binding;IDA|GO:0005080;protein kinase C binding;ISS|GO:0005102;receptor binding;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;TAS|GO:0017134;fibroblast growth factor binding;IDA|GO:0019960;C-X3-C chemokine binding;IDA|GO:0031994;insulin-like growth factor I binding;IDA|GO:0038132;neuregulin binding;IDA|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050431;transforming growth factor beta binding;ISS|GO:0050840;extracellular matrix binding;IDA|GO:1990430;extracellular matrix protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ITGAV	https://www.uniprot.org/uniprot/P06756		https://www.ncbi.nlm.nih.gov/omim/?term=193210	http://www.informatics.jax.org/searchtool/Search.do?query=ITGAV&submit=Quick%0D%7735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGAV	rs4667107	0.230631	0	0	1	0	0	intronic	intronic	intronic	ITGAV	ITGAV	ENSG00000138448	Na	Na	Na	Na	Na	Na	Het;T>C	67;6|3	Hom;T>C	517;0|13
N	N	-	2	187558960	187558960	G	A	snp	synonymous SNV	G60A	L20L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAM171B	Fam171b	ENSG00000144369	family with sequence similarity 171 member B	chr2:187558698-187630685			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM171B	https://www.uniprot.org/uniprot/Q6P995			http://www.informatics.jax.org/searchtool/Search.do?query=FAM171B&submit=Quick%0D%8600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM171B	rs2276562	0.288738	0.1658	0.2777	1	0	0	exonic	exonic	exonic	FAM171B	FAM171B	ENSG00000144369	synonymous SNV	synonymous SNV	unknown	FAM171B:NM_177454:exon1:c.G60A:p.L20L,	FAM171B:uc002ups.3:exon1:c.G60A:p.L20L,FAM171B:uc002upr.1:exon1:c.G60A:p.L20L,	UNKNOWN	Het;G>A	309;36|20	Hom;G>A	1089;0|42
N	N	-	2	187559047	187559047	G	GCAA	indel	nonframeshift substitution	147_147delinsGCAA	 	 	 	FAM171B	Fam171b	ENSG00000144369	family with sequence similarity 171 member B	chr2:187558698-187630685			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM171B	https://www.uniprot.org/uniprot/Q6P995			http://www.informatics.jax.org/searchtool/Search.do?query=FAM171B&submit=Quick%0D%8600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM171B	rs144403657	0.519569	0.5316	0.4639	1	0	0	exonic	exonic	exonic	FAM171B	FAM171B	ENSG00000144369	nonframeshift substitution	nonframeshift substitution	unknown	FAM171B:NM_177454:exon1:c.147_147delinsGCAA,	FAM171B:uc002ups.3:exon1:c.147_147delinsGCAA,FAM171B:uc002upr.1:exon1:c.147_147delinsGCAA,	UNKNOWN	Het;+CAA	168;32|13	Hom;+CAA	560;0|16
N	N	-	2	187813983	187813983	G	A	snp	intergenic	 	 	 	 	ZSWIM2	Zswim2	ENSG00000163012	zinc finger SWIM-type containing 2	chr2:187692562-187713935		hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 		GO:0000209;protein polyubiquitination;IEA|GO:0006915;apoptotic process;IEA|GO:1902043;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA		GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0043621;protein self-association;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSWIM2				http://www.informatics.jax.org/searchtool/Search.do?query=ZSWIM2&submit=Quick%0D%10858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSWIM2	rs71432473	0.217652	0	0	1	0	0	intergenic	intergenic	intergenic	ZSWIM2(dist=100086),CALCRL(dist=392707)	ZSWIM2(dist=100086),CALCRL(dist=392707)	ENSG00000163012(dist=100048),ENSG00000226553(dist=52620)	Na	Na	Na	Na	Na	Na	Het;G>A	56;8|3	Hom;G>A	232;0|7
N	N	-	2	187913365	187913365	C	T	snp	ncRNA_intronic	 	 	 	 	AC007319.1																		rs4666720	0.291334	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ZSWIM2(dist=199468),CALCRL(dist=293325)	ZSWIM2(dist=199468),CALCRL(dist=293325)	ENSG00000224063	Na	Na	Na	Na	Na	Na	Het;C>T	562;21|21	Hom;C>T	1135;1|36
N	N	-	2	188690820	188690820	G	A	snp	ncRNA_exonic	 	 	 	 	ST13P2																		rs4332885	0.634984	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TFPI(dist=271601),LINC01090(dist=209503)	TFPI(dist=271601),GULP1(dist=465576)	ENSG00000235616	Na	Na	Na	Na	Na	Na	Het;G>A	246;6|12	Hom;G>A	576;0|21
N	N	-	2	189510740	189510740	T	TA	indel	ncRNA_intronic	 	 	 	 	AC092598.1																		rs34964931	0.841653	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	GULP1(dist=50088),DIRC1(dist=87725)	GULP1(dist=50088),DIRC1(dist=87725)	ENSG00000223523	Na	Na	Na	Na	Na	Na	Het;+A	227;5|16	Hom;+A	283;1|14
N	N	-	2	189849773	189849773	A	G	snp	intronic	 	 	 	 	COL3A1	Col3a1	ENSG00000168542	collagen type III alpha 1 chain	chr2:189839046-189877472	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]	Infection|Inflammation|Premature Birth; metabolic syndrome; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Type 2 Diabetes| edema | rosiglitazone; Hepatitis B, Chronic|Liver Cirrhosis; Intracranial Aneurysm; Gastroesophageal Reflux|Hernia, Hiatal; Inflammation|Premature Birth; mitral valve prolapse; abdominal aortic aneurysm; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; mild Ehlers-Danlos syndrome type IV; scleroderma; Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Thoracic|Aortic Rupture; Kidney Failure, Chronic; Uterine Prolapse; Cystocele|Rectal Prolapse|Uterine Prolapse; Ehlers-Danlos syndrome type IV; cervical artery dissection, spontaneous; coronary artery disease	Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001568;blood vessel development;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007507;heart development;IMP|GO:0007568;aging;IEA|GO:0009314;response to radiation;IDA|GO:0009612;response to mechanical stimulus;IEA|GO:0018149;peptide cross-linking;IDA|GO:0021987;cerebral cortex development;IEA|GO:0030168;platelet activation;NAS|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0034097;response to cytokine;IDA|GO:0035025;positive regulation of Rho protein signal transduction;IEA|GO:0042060;wound healing;IDA|GO:0043588;skin development;IMP|GO:0048565;digestive tract development;IEA|GO:0050776;regulation of immune response;TAS|GO:0050777;negative regulation of immune response;IMP|GO:0060414;aorta smooth muscle tissue morphogenesis;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0097435;supramolecular fiber organization;IMP|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005586;collagen type III trimer;IDA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IMP	GO:0002020;protease binding;IPI|GO:0005178;integrin binding;IMP|GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL3A1		https://hpo.jax.org/app/browse/search?q=COL3A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120180	http://www.informatics.jax.org/searchtool/Search.do?query=COL3A1&submit=Quick%0D%12297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL3A1	rs3106796	0.370807	0	0	1	0	0	intronic	intronic	intronic	COL3A1	COL3A1	ENSG00000168542	Na	Na	Na	Na	Na	Na	Het;A>G	471;16|18	Hom;A>G	1087;0|32
N	N	-	2	189855674	189855674	T	A	snp	intronic	 	 	 	 	COL3A1	Col3a1	ENSG00000168542	collagen type III alpha 1 chain	chr2:189839046-189877472	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]	Infection|Inflammation|Premature Birth; metabolic syndrome; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Type 2 Diabetes| edema | rosiglitazone; Hepatitis B, Chronic|Liver Cirrhosis; Intracranial Aneurysm; Gastroesophageal Reflux|Hernia, Hiatal; Inflammation|Premature Birth; mitral valve prolapse; abdominal aortic aneurysm; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; mild Ehlers-Danlos syndrome type IV; scleroderma; Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Thoracic|Aortic Rupture; Kidney Failure, Chronic; Uterine Prolapse; Cystocele|Rectal Prolapse|Uterine Prolapse; Ehlers-Danlos syndrome type IV; cervical artery dissection, spontaneous; coronary artery disease	Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001568;blood vessel development;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007507;heart development;IMP|GO:0007568;aging;IEA|GO:0009314;response to radiation;IDA|GO:0009612;response to mechanical stimulus;IEA|GO:0018149;peptide cross-linking;IDA|GO:0021987;cerebral cortex development;IEA|GO:0030168;platelet activation;NAS|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0034097;response to cytokine;IDA|GO:0035025;positive regulation of Rho protein signal transduction;IEA|GO:0042060;wound healing;IDA|GO:0043588;skin development;IMP|GO:0048565;digestive tract development;IEA|GO:0050776;regulation of immune response;TAS|GO:0050777;negative regulation of immune response;IMP|GO:0060414;aorta smooth muscle tissue morphogenesis;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0097435;supramolecular fiber organization;IMP|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005586;collagen type III trimer;IDA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IMP	GO:0002020;protease binding;IPI|GO:0005178;integrin binding;IMP|GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL3A1		https://hpo.jax.org/app/browse/search?q=COL3A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120180	http://www.informatics.jax.org/searchtool/Search.do?query=COL3A1&submit=Quick%0D%12297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL3A1	rs2203601	0.370208	0.3199	0	1	0	0	intronic	intronic	intronic	COL3A1	COL3A1	ENSG00000168542	Na	Na	Na	Na	Na	Na	Het;T>A	504;36|29	Hom;T>A	1757;0|67
N	N	-	2	189867205	189867205	G	A	snp	intronic	 	 	 	 	COL3A1	Col3a1	ENSG00000168542	collagen type III alpha 1 chain	chr2:189839046-189877472	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]	Infection|Inflammation|Premature Birth; metabolic syndrome; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Type 2 Diabetes| edema | rosiglitazone; Hepatitis B, Chronic|Liver Cirrhosis; Intracranial Aneurysm; Gastroesophageal Reflux|Hernia, Hiatal; Inflammation|Premature Birth; mitral valve prolapse; abdominal aortic aneurysm; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; mild Ehlers-Danlos syndrome type IV; scleroderma; Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Aortic Aneurysm, Thoracic|Aortic Rupture; Kidney Failure, Chronic; Uterine Prolapse; Cystocele|Rectal Prolapse|Uterine Prolapse; Ehlers-Danlos syndrome type IV; cervical artery dissection, spontaneous; coronary artery disease	Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001568;blood vessel development;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007507;heart development;IMP|GO:0007568;aging;IEA|GO:0009314;response to radiation;IDA|GO:0009612;response to mechanical stimulus;IEA|GO:0018149;peptide cross-linking;IDA|GO:0021987;cerebral cortex development;IEA|GO:0030168;platelet activation;NAS|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0034097;response to cytokine;IDA|GO:0035025;positive regulation of Rho protein signal transduction;IEA|GO:0042060;wound healing;IDA|GO:0043588;skin development;IMP|GO:0048565;digestive tract development;IEA|GO:0050776;regulation of immune response;TAS|GO:0050777;negative regulation of immune response;IMP|GO:0060414;aorta smooth muscle tissue morphogenesis;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0097435;supramolecular fiber organization;IMP|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005586;collagen type III trimer;IDA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IMP	GO:0002020;protease binding;IPI|GO:0005178;integrin binding;IMP|GO:0005201;extracellular matrix structural constituent;IMP|GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL3A1		https://hpo.jax.org/app/browse/search?q=COL3A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120180	http://www.informatics.jax.org/searchtool/Search.do?query=COL3A1&submit=Quick%0D%12297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL3A1	rs3106801	0.371406	0	0	1	0	0	intronic	intronic	intronic	COL3A1	COL3A1	ENSG00000168542	Na	Na	Na	Na	Na	Na	Het;G>A	53;6|3	Hom;G>A	253;0|8
N	N	-	2	189901295	189901295	G	A	snp	intronic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs12693526	0.643371	0.7128	0.7245	1	0	0	intronic	intronic	intronic	COL5A2	COL5A2	ENSG00000204262	Na	Na	Na	Na	Na	Na	Het;G>A	246;18|14	Hom;G>A	740;0|27
N	N	-	2	189918787	189918787	C	T	snp	intronic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs6738371	0.640375	0	0	1	0	0	intronic	intronic	intronic	COL5A2	COL5A2	ENSG00000204262	Na	Na	Na	Na	Na	Na	Het;C>T	329;13|12	Hom;C>T	764;0|24
N	N	-	2	189923401	189923401	T	C	snp	intronic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs10178611	0.640575	0	0	1	0	0	intronic	intronic	intronic	COL5A2	COL5A2	ENSG00000204262	Na	Na	Na	Na	Na	Na	Het;T>C	151;1|5	Hom;T>C	351;0|10
N	N	-	2	189923434	189923434	A	C	snp	intronic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs12989558	0.640575	0	0	1	0	0	intronic	intronic	intronic	COL5A2	COL5A2	ENSG00000204262	Na	Na	Na	Na	Na	Na	Het;A>C	202;6|7	Hom;A>C	536;0|14
N	N	-	2	189923630	189923631	AT	A	indel	intronic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs398080909	0.722644	0	0.7242	1	0	0	intronic	intronic	intronic	COL5A2	COL5A2	ENSG00000204262	Na	Na	Na	Na	Na	Na	Het;-T	1656;11|85	Hom;-T	2526;4|113
N	N	-	2	189936687	189936687	T	G	snp	intronic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs6434317	0.642572	0	0	1	0	0	intronic	intronic	intronic	COL5A2	COL5A2	ENSG00000204262	Na	Na	Na	Na	Na	Na	Het;T>G	388;8|14	Hom;T>G	827;0|26
N	N	-	2	189943121	189943122	GA	G	indel	intronic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs5837122	0.9375	0	0	1	0	0	intronic	intronic	intronic	COL5A2	COL5A2	ENSG00000204262	Na	Na	Na	Na	Na	Na	Het;-A	88;2|7	Hom;-A	81;0|5
N	N	-	2	190093904	190093904	A	G	snp	intergenic	 	 	 	 	COL5A2	Col5a2	ENSG00000204262	collagen type V alpha 2 chain	chr2:189896622-190044605	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.	Collagen chain trimerization	GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS	GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL5A2		https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120190	http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2	rs12472232	0.847244	0	0	1	0	0	intergenic	intergenic	intergenic	COL5A2(dist=49299),WDR75(dist=212255)	COL5A2(dist=49299),WDR75(dist=212255)	ENSG00000204262(dist=49299),ENSG00000213601(dist=82085)	Na	Na	Na	Na	Na	Na	Het;A>G	403;14|21	Hom;A>G	847;0|36
N	N	-	2	190319966	190319966	C	CA	indel	intronic	 	 	 	 	WDR75	Wdr75	ENSG00000115368	WD repeat domain 75	chr2:190306159-190340291			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR75	https://www.uniprot.org/uniprot/Q8IWA0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR75&submit=Quick%0D%4595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR75	rs398105108	0.514577	0	0	1	0	0	intronic	intronic	intronic	WDR75	WDR75	ENSG00000115368	Na	Na	Na	Na	Na	Na	Het;+A	247;7|13	Hom;+A	273;1|13
N	N	-	2	190322196	190322196	T	C	snp	intronic	 	 	 	 	WDR75	Wdr75	ENSG00000115368	WD repeat domain 75	chr2:190306159-190340291			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR75	https://www.uniprot.org/uniprot/Q8IWA0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR75&submit=Quick%0D%4595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR75	rs10497700	0.523962	0	0	1	0	0	intronic	intronic	intronic	WDR75	WDR75	ENSG00000115368	Na	Na	Na	Na	Na	Na	Het;T>C	294;6|9	Hom;T>C	268;0|7
N	N	-	2	190323530	190323530	A	G	snp	synonymous SNV	A429G	T143T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	WDR75	Wdr75	ENSG00000115368	WD repeat domain 75	chr2:190306159-190340291			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR75	https://www.uniprot.org/uniprot/Q8IWA0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR75&submit=Quick%0D%4595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR75	rs1157910	0.525559	0.5591	0.6195	1	0	0	exonic	exonic	exonic	WDR75	WDR75	ENSG00000115368	synonymous SNV	synonymous SNV	unknown	WDR75:NM_032168:exon7:c.A621G:p.T207T,WDR75:NM_001303096:exon8:c.A429G:p.T143T,	WDR75:uc002uqm.1:exon8:c.A429G:p.T143T,WDR75:uc002uql.1:exon7:c.A621G:p.T207T,	UNKNOWN	Het;A>G	1907;108|93	Hom;A>G	4635;0|172
N	N	-	2	190327076	190327076	C	T	snp	intronic	 	 	 	 	WDR75	Wdr75	ENSG00000115368	WD repeat domain 75	chr2:190306159-190340291			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR75	https://www.uniprot.org/uniprot/Q8IWA0			http://www.informatics.jax.org/searchtool/Search.do?query=WDR75&submit=Quick%0D%4595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR75	rs2304703	0.523962	0	0	1	0	0	intronic	intronic	intronic	WDR75	WDR75	ENSG00000115368	Na	Na	Na	Na	Na	Na	Het;C>T	182;4|7	Hom;C>T	115;0|4
N	N	-	2	190428258	190428258	A	G	snp	intronic	 	 	 	 	SLC40A1	Slc40a1	ENSG00000138449	solute carrier family 40 member 1	chr2:190425305-190448484	The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]	breast cancer; Varicose Ulcer; iron overload; ferritin; Abortion, Spontaneous; Hemochromatosis|Liver Diseases; C-reactive protein; ferritin; iron; Iron Overload; Cystic Fibrosis|Liver Diseases; Fatty Liver|Iron Overload|Liver Cirrhosis; Hemochromatosis|Iron Overload; haemochromatosis; cystinuria; iron levels; Hemochromatosis	Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis.	Iron uptake and transport	GO:0002260;lymphocyte homeostasis;IEA|GO:0003158;endothelium development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006826;iron ion transport;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0034395;regulation of transcription from RNA polymerase II promoter in response to iron;IEA|GO:0034755;iron ion transmembrane transport;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048536;spleen development;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0060345;spleen trabecula formation;IEA|GO:0060586;multicellular organismal iron ion homeostasis;IEA|GO:1903988;ferrous iron export across plasma membrane;IEA	GO:0005622;intracellular;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IDA	GO:0004872;receptor activity;IEA|GO:0005381;iron ion transmembrane transporter activity;IMP|GO:0005515;protein binding;IPI|GO:0015093;ferrous iron transmembrane transporter activity;IEA|GO:0017046;peptide hormone binding;IPI|GO:0097689;iron channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC40A1	https://www.uniprot.org/uniprot/Q9NP59	https://hpo.jax.org/app/browse/search?q=SLC40A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604653	http://www.informatics.jax.org/searchtool/Search.do?query=SLC40A1&submit=Quick%0D%7736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC40A1	Na	0	0	0	1	0	0	intronic	intronic	intronic	SLC40A1	SLC40A1	ENSG00000138449	Na	Na	Na	Na	Na	Na	Het;A>G	423;20|15	Hom;A>G	1054;0|30
N	N	-	2	190444630	190444630	C	G	snp	intronic	 	 	 	 	SLC40A1	Slc40a1	ENSG00000138449	solute carrier family 40 member 1	chr2:190425305-190448484	The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]	breast cancer; Varicose Ulcer; iron overload; ferritin; Abortion, Spontaneous; Hemochromatosis|Liver Diseases; C-reactive protein; ferritin; iron; Iron Overload; Cystic Fibrosis|Liver Diseases; Fatty Liver|Iron Overload|Liver Cirrhosis; Hemochromatosis|Iron Overload; haemochromatosis; cystinuria; iron levels; Hemochromatosis	Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis.	Iron uptake and transport	GO:0002260;lymphocyte homeostasis;IEA|GO:0003158;endothelium development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006826;iron ion transport;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0034395;regulation of transcription from RNA polymerase II promoter in response to iron;IEA|GO:0034755;iron ion transmembrane transport;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048536;spleen development;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0060345;spleen trabecula formation;IEA|GO:0060586;multicellular organismal iron ion homeostasis;IEA|GO:1903988;ferrous iron export across plasma membrane;IEA	GO:0005622;intracellular;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IDA	GO:0004872;receptor activity;IEA|GO:0005381;iron ion transmembrane transporter activity;IMP|GO:0005515;protein binding;IPI|GO:0015093;ferrous iron transmembrane transporter activity;IEA|GO:0017046;peptide hormone binding;IPI|GO:0097689;iron channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC40A1	https://www.uniprot.org/uniprot/Q9NP59	https://hpo.jax.org/app/browse/search?q=SLC40A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604653	http://www.informatics.jax.org/searchtool/Search.do?query=SLC40A1&submit=Quick%0D%7736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC40A1	rs1439816	0.659545	0.6902	0.7872	1	0	0	intronic	intronic	intronic	SLC40A1	SLC40A1	ENSG00000138449	Na	Na	Na	Na	Na	Na	Het;C>G	1144;64|54	Hom;C>G	1937;0|71
N	N	-	2	190445076	190445076	T	G	snp	intronic	 	 	 	 	SLC40A1	Slc40a1	ENSG00000138449	solute carrier family 40 member 1	chr2:190425305-190448484	The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]	breast cancer; Varicose Ulcer; iron overload; ferritin; Abortion, Spontaneous; Hemochromatosis|Liver Diseases; C-reactive protein; ferritin; iron; Iron Overload; Cystic Fibrosis|Liver Diseases; Fatty Liver|Iron Overload|Liver Cirrhosis; Hemochromatosis|Iron Overload; haemochromatosis; cystinuria; iron levels; Hemochromatosis	Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis.	Iron uptake and transport	GO:0002260;lymphocyte homeostasis;IEA|GO:0003158;endothelium development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006826;iron ion transport;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0034395;regulation of transcription from RNA polymerase II promoter in response to iron;IEA|GO:0034755;iron ion transmembrane transport;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048536;spleen development;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0060345;spleen trabecula formation;IEA|GO:0060586;multicellular organismal iron ion homeostasis;IEA|GO:1903988;ferrous iron export across plasma membrane;IEA	GO:0005622;intracellular;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IDA	GO:0004872;receptor activity;IEA|GO:0005381;iron ion transmembrane transporter activity;IMP|GO:0005515;protein binding;IPI|GO:0015093;ferrous iron transmembrane transporter activity;IEA|GO:0017046;peptide hormone binding;IPI|GO:0097689;iron channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC40A1	https://www.uniprot.org/uniprot/Q9NP59	https://hpo.jax.org/app/browse/search?q=SLC40A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604653	http://www.informatics.jax.org/searchtool/Search.do?query=SLC40A1&submit=Quick%0D%7736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC40A1	rs4287798	0.560503	0.5414	0	1	0	0	intronic	intronic	intronic	SLC40A1	SLC40A1	ENSG00000138449	Na	Na	Na	Na	Na	Na	Het;T>G	949;26|36	Hom;T>G	1502;0|48
N	N	-	2	190554759	190554759	T	A	snp	intronic	 	 	 	 	ANKAR	Ankar	ENSG00000151687	ankyrin and armadillo repeat containing	chr2:190539016-190625919			 			GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ANKAR	https://www.uniprot.org/uniprot/Q7Z5J8		https://www.ncbi.nlm.nih.gov/omim/?term=609803	http://www.informatics.jax.org/searchtool/Search.do?query=ANKAR&submit=Quick%0D%9453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKAR	rs62185872	0.122804	0	0	1	0	0	intronic	intronic	intronic	ANKAR	ANKAR	ENSG00000151687	Na	Na	Na	Na	Na	Na	Het;T>A	264;19|13	Hom;T>A	640;0|22
N	N	-	2	190556898	190556898	C	T	snp	intronic	 	 	 	 	ANKAR	Ankar	ENSG00000151687	ankyrin and armadillo repeat containing	chr2:190539016-190625919			 			GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ANKAR	https://www.uniprot.org/uniprot/Q7Z5J8		https://www.ncbi.nlm.nih.gov/omim/?term=609803	http://www.informatics.jax.org/searchtool/Search.do?query=ANKAR&submit=Quick%0D%9453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKAR	rs16831873	0.0880591	0	0	1	0	0	intronic	intronic	intronic	ANKAR	ANKAR	ENSG00000151687	Na	Na	Na	Na	Na	Na	Het;C>T	259;6|12	Hom;C>T	418;0|14
N	N	-	2	190593168	190593173	ATTTTT	A	indel	intronic	 	 	 	 	ANKAR	Ankar	ENSG00000151687	ankyrin and armadillo repeat containing	chr2:190539016-190625919			 			GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ANKAR	https://www.uniprot.org/uniprot/Q7Z5J8		https://www.ncbi.nlm.nih.gov/omim/?term=609803	http://www.informatics.jax.org/searchtool/Search.do?query=ANKAR&submit=Quick%0D%9453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKAR	rs3067424	0.260982	0.2808	0.2329	1	0	0	intronic	intronic	intronic	ANKAR	ANKAR	ENSG00000151687	Na	Na	Na	Na	Na	Na	Het;-TTTTT	1402;41|42	Hom;-TTTTT	4102;0|99
N	N	-	2	190648805	190648805	G	T	snp	intronic	 	 	 	 	ORMDL1	Ormdl1	ENSG00000128699	ORMDL sphingolipid biosynthesis regulator 1	chr2:190635049-190649097			 	Sphingolipid de novo biosynthesis	GO:0006672;ceramide metabolic process;IMP|GO:0090155;negative regulation of sphingolipid biosynthetic process;IEA|GO:0090156;cellular sphingolipid homeostasis;IBA|GO:1900060;negative regulation of ceramide biosynthetic process;IMP	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035339;SPOTS complex;IBA		http://www.genecards.org/index.php?path=/Search/keyword/ORMDL1	https://www.uniprot.org/uniprot/Q9P0S3		https://www.ncbi.nlm.nih.gov/omim/?term=610073	http://www.informatics.jax.org/searchtool/Search.do?query=ORMDL1&submit=Quick%0D%6175ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORMDL1	rs5742926	0.0880591	0	0	1	0	0	intronic	intronic	intronic	ORMDL1	ORMDL1	ENSG00000128699	Na	Na	Na	Na	Na	Na	Het;G>T	191;11|10	Hom;G>T	424;0|14
N	N	-	2	190649316	190649316	G	C	snp	UTR5	-7220G>C	 	 	 	PMS1	Pms1	ENSG00000064933	PMS1 homolog 1, mismatch repair system component	chr2:190649107-190742355	This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]	epithelial ovarian cancer ; cervical intraepithelial neoplasia grade 3; Adenocarcinoma|Pancreatic Neoplasms; colorectal cancer; Hypertension; bladder cancer; chronic obstructive pulmonary disease; head and neck cancer lung cancer; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; ovarian cancer ; breast cancer; ovarian cancer; hypertension; lung cancer	Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions.		GO:0006281;DNA repair;IEA|GO:0006298;mismatch repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0042493;response to drug;IEA	GO:0005634;nucleus;TAS|GO:0032389;MutLalpha complex;IBA	GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IBA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IBA|GO:0030983;mismatched DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PMS1	https://www.uniprot.org/uniprot/P54277	https://hpo.jax.org/app/browse/search?q=PMS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600258	http://www.informatics.jax.org/searchtool/Search.do?query=PMS1&submit=Quick%0D%1150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PMS1	rs5742933	0.219249	0	0	1	0	0	UTR5	UTR5	UTR5	PMS1(NM_001128143:c.-7220G>C,NM_001128144:c.-7220G>C,NM_000534:c.-7220G>C,NM_001289408:c.-33537G>C,NM_001289409:c.-33537G>C)	PMS1(uc010zfz.1:c.-7220G>C,uc010zga.1:c.-7220G>C,uc010zgb.1:c.-7220G>C,uc002urh.4:c.-7220G>C,uc002urk.4:c.-7220G>C,uc002uri.4:c.-7220G>C,uc010zgc.2:c.-33537G>C,uc010zgd.2:c.-33537G>C)	ENSG00000064933(ENST00000441310:c.-7220G>C,ENST00000409985:c.-7220G>C,ENST00000418224:c.-33537G>C,ENST00000342075:c.-7220G>C,ENST00000446877:c.-7220G>C,ENST00000409823:c.-7220G>C,ENST00000374826:c.-7220G>C,ENST00000424766:c.-7220G>C,ENST00000447232:c.-7220G>C,ENST00000432292:c.-33537G>C,ENST00000447734:c.-7220G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	607;16|26	Hom;G>C	1295;6|49
N	N	-	2	190926859	190926860	GT	G	indel	intronic	 	 	 	 	MSTN	Mstn	ENSG00000138379	myostatin	chr2:190920423-190927455	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]	muscle testing; sarcopenia; muscle testing; endurance performance; strength measures; Bone Mineral Density; null; muscle phenotypes; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; elite rowing; left ventricular mass in male athletes; Body Mass Index	Homozygotes for targeted and spontaneous mutations exhibit markedly increased size of striated muscle due to both hyperplasia and hypertrophy, reduced adiposity, and increased bone mineral density.		GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0009408;response to heat;IEA|GO:0009629;response to gravity;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0014732;skeletal muscle atrophy;IEA|GO:0014741;negative regulation of muscle hypertrophy;IEA|GO:0014850;response to muscle activity;IEA|GO:0022602;ovulation cycle process;IEA|GO:0033574;response to testosterone;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0043408;regulation of MAPK cascade;IBA|GO:0043627;response to estrogen;IEA|GO:0045471;response to ethanol;IEA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046627;negative regulation of insulin receptor signaling pathway;IEA|GO:0046716;muscle cell cellular homeostasis;IDA|GO:0048468;cell development;IBA|GO:0048632;negative regulation of skeletal muscle tissue growth;IMP|GO:0051384;response to glucocorticoid;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:1902723;negative regulation of skeletal muscle satellite cell proliferation;ISS|GO:1902725;negative regulation of satellite cell differentiation;ISS|GO:2000818;negative regulation of myoblast proliferation;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA	GO:0005102;receptor binding;IPI|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0008201;heparin binding;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MSTN	https://www.uniprot.org/uniprot/O14793	https://hpo.jax.org/app/browse/search?q=MSTN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601788	http://www.informatics.jax.org/searchtool/Search.do?query=MSTN&submit=Quick%0D%7716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSTN	rs11333758	0.3752	0	0	1	0	0	intronic	intronic	intronic	MSTN	MSTN	ENSG00000138379	Na	Na	Na	Na	Na	Na	Het;-T	44;5|3	Hom;-T	208;0|7
N	N	-	2	191159232	191159232	A	G	snp	intronic	 	 	 	 	HIBCH	Hibch	ENSG00000198130	3-hydroxyisobutyryl-CoA hydrolase	chr2:191054461-191208919	This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Monocyte Chemoattractant Protein-1; Body Mass Index; HIV Infections|[X]Human immunodeficiency virus disease; Acquired Immunodeficiency Syndrome|Disease Progression	 	Branched-chain amino acid catabolism	GO:0006574;valine catabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003860;3-hydroxyisobutyryl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIBCH		https://hpo.jax.org/app/browse/search?q=HIBCH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610690	http://www.informatics.jax.org/searchtool/Search.do?query=HIBCH&submit=Quick%0D%16825ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIBCH	rs188339	0.684305	0.7223	0.7396	1	0	0	intronic	intronic	intronic	HIBCH	HIBCH	ENSG00000198130	Na	Na	Na	Na	Na	Na	Het;A>G	757;24|31	Hom;A>G	1658;2|58
N	N	-	2	191161622	191161622	T	C	snp	nonsynonymous SNV	A136G	T46A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	HIBCH	Hibch	ENSG00000198130	3-hydroxyisobutyryl-CoA hydrolase	chr2:191054461-191208919	This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Monocyte Chemoattractant Protein-1; Body Mass Index; HIV Infections|[X]Human immunodeficiency virus disease; Acquired Immunodeficiency Syndrome|Disease Progression	 	Branched-chain amino acid catabolism	GO:0006574;valine catabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0003860;3-hydroxyisobutyryl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIBCH		https://hpo.jax.org/app/browse/search?q=HIBCH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610690	http://www.informatics.jax.org/searchtool/Search.do?query=HIBCH&submit=Quick%0D%16825ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIBCH	rs1058180	0.684305	0.7242	0.7393	0.23	3	13	exonic	exonic	exonic	HIBCH	HIBCH	ENSG00000198130	nonsynonymous SNV	nonsynonymous SNV	unknown	HIBCH:NM_014362:exon3:c.A136G:p.T46A,HIBCH:NM_198047:exon3:c.A136G:p.T46A,	HIBCH:uc002uru.3:exon3:c.A136G:p.T46A,HIBCH:uc002urv.3:exon3:c.A136G:p.T46A,	UNKNOWN	Het;T>C	1377;95|68	Hom;T>C	4300;0|163
N	N	-	2	191301368	191301368	A	G	snp	nonsynonymous SNV	A613G	R205G	polar,hydrophilic,charged(+)	aliphatic,neutral	MFSD6	Mfsd6	ENSG00000151690	major facilitator superfamily domain containing 6	chr2:191273081-191373931		Autism; Tobacco Use Disorder	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MFSD6	https://www.uniprot.org/uniprot/Q6ZSS7		https://www.ncbi.nlm.nih.gov/omim/?term=613476	http://www.informatics.jax.org/searchtool/Search.do?query=MFSD6&submit=Quick%0D%9455ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFSD6	rs9646748	0.492412	0.4379	0.4853	0.23	3	13	exonic	exonic	exonic	MFSD6	MFSD6	ENSG00000151690	nonsynonymous SNV	nonsynonymous SNV	unknown	MFSD6:NM_017694:exon3:c.A613G:p.R205G,	MFSD6:uc002urz.2:exon3:c.A613G:p.R205G,	UNKNOWN	Het;A>G	2835;117|114	Hom;A>G	5390;0|185
N	N	-	2	191334424	191334424	G	A	snp	intronic	 	 	 	 	MFSD6	Mfsd6	ENSG00000151690	major facilitator superfamily domain containing 6	chr2:191273081-191373931		Autism; Tobacco Use Disorder	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MFSD6	https://www.uniprot.org/uniprot/Q6ZSS7		https://www.ncbi.nlm.nih.gov/omim/?term=613476	http://www.informatics.jax.org/searchtool/Search.do?query=MFSD6&submit=Quick%0D%9455ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFSD6	rs10193212	0.465256	0	0	1	0	0	intronic	intronic	intronic	MFSD6	MFSD6	ENSG00000151690	Na	Na	Na	Na	Na	Na	Het;G>A	143;6|7	Hom;G>A	154;0|5
N	N	-	2	191354491	191354491	T	C	snp	intronic	 	 	 	 	MFSD6	Mfsd6	ENSG00000151690	major facilitator superfamily domain containing 6	chr2:191273081-191373931		Autism; Tobacco Use Disorder	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MFSD6	https://www.uniprot.org/uniprot/Q6ZSS7		https://www.ncbi.nlm.nih.gov/omim/?term=613476	http://www.informatics.jax.org/searchtool/Search.do?query=MFSD6&submit=Quick%0D%9455ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MFSD6	rs3811609	0.34345	0.2600	0.3246	1	0	0	intronic	intronic	intronic	MFSD6	MFSD6	ENSG00000151690	Na	Na	Na	Na	Na	Na	Het;T>C	475;23|22	Hom;T>C	1565;1|63
N	N	-	2	191375375	191375375	G	A	snp	intronic	 	 	 	 	TMEM194B	 																	rs6712426	0.685903	0	0	1	0	0	intronic	intronic	intronic	TMEM194B	TMEM194B	ENSG00000189362	Na	Na	Na	Na	Na	Na	Het;G>A	111;4|5	Hom;G>A	242;0|7
N	N	-	2	191379268	191379268	G	A	snp	synonymous SNV	C864T	A288A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM194B	 																	rs4586658	0.532548	0.5026	0.5526	1	0	0	exonic	exonic	exonic	TMEM194B	TMEM194B	ENSG00000189362	synonymous SNV	synonymous SNV	unknown	TMEM194B:NM_001142645:exon7:c.C864T:p.A288A,	TMEM194B:uc010zgf.2:exon7:c.C864T:p.A288A,	UNKNOWN	Het;G>A	1018;79|50	Hom;G>A	2682;0|98
N	N	-	2	191390126	191390126	G	A	snp	intronic	 	 	 	 	TMEM194B	 																	rs10931458	0.685903	0.6940	0.7310	1	0	0	intronic	intronic	intronic	TMEM194B	TMEM194B	ENSG00000189362	Na	Na	Na	Na	Na	Na	Het;G>A	1110;36|50	Hom;G>A	2182;0|79
N	N	-	2	191399433	191399433	T	C	snp	UTR5	-52A>G	 	 	 	TMEM194B	 																	rs12693579	0.683506	0	0	1	0	0	UTR5	UTR5	UTR5	TMEM194B(NM_001142645:c.-52A>G)	TMEM194B(uc010zgf.2:c.-52A>G)	ENSG00000189362(ENST00000409150:c.-52A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	243;9|11	Hom;T>C	429;0|17
N	N	-	2	191746233	191746233	T	G	snp	ncRNA_exonic	 	 	 	 	AC005540.1																		rs78219026	0.170527	0.0719	0.1661	1	0	0	intronic	intronic	ncRNA_exonic	GLS	GLS	ENSG00000235852	Na	Na	Na	Na	Na	Na	Het;T>G	316;9|15	Hom;T>G	722;0|28
N	N	-	2	191789206	191789206	A	G	snp	intronic	 	 	 	 	GLS	Gls	ENSG00000115419	glutaminase	chr2:191745553-191830278	This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]	Hepatic Encephalopathy|Liver Cirrhosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Acquired Immunodeficiency Syndrome|Disease Progression; Weight Gain; Meningeal Neoplasms|meningioma; Schizophrenia; schizophrenia	Homozygotes for targeted null mutations die within 1 day postnatally with abnormal respiratory function and goal-oriented behavior toward dam. Mice homozygous for another allele exhibit abnormal TNFA-stimulated astrocyte extracellular vesicle release.	Amino acid synthesis and interconversion (transamination)	GO:0001967;suckling behavior;IEA|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006537;glutamate biosynthetic process;TAS|GO:0006541;glutamine metabolic process;IEA|GO:0006543;glutamine catabolic process;IDA|GO:0007268;chemical synaptic transmission;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0014047;glutamate secretion;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IEA	GO:0004359;glutaminase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLS	https://www.uniprot.org/uniprot/O94925	https://hpo.jax.org/app/browse/search?q=GLS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138280	http://www.informatics.jax.org/searchtool/Search.do?query=GLS&submit=Quick%0D%4600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLS	rs7564529	0.173922	0.0931	0	1	0	0	intronic	intronic	intronic	GLS	GLS	ENSG00000115419	Na	Na	Na	Na	Na	Na	Het;A>G	664;18|24	Hom;A>G	723;0|23
N	N	-	2	191862749	191862749	G	A	snp	intronic	 	 	 	 	STAT1	Stat1	ENSG00000115415	signal transducer and activator of transcription 1	chr2:191829084-191885686	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]	Hepatitis C, Chronic|Liver Cirrhosis; cervical intraepithelial neoplasia grade 3; bladder cancer; Glioblastoma|Glioma; myeloid leukemia; lung cancer ; hepatitis B; null; chronic obstructive pulmonary disease; Carcinoma, Medullary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; Lupus Erythematosus, Systemic; lung cancer; ovarian cancer; Hepatitis B, Chronic|Viremia; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C|Remission, Spontaneous; breast cancer ; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hepatitis C, Chronic|Multiple Sclerosis; Tobacco Use Disorder; respiratory syncytial virus bronchiolitis; tuberculosis; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; multiple sclerosis; osteoporosis; Neoplasms; Meningeal Neoplasms|meningioma; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; Type 2 Diabetes| edema | rosiglitazone; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hypersensitivity, Immediate; Lymphoma, Large B-Cell, Diffuse; Bone Mineral Density; Dengue Hemorrhagic Fever; plasma HDL cholesterol (HDL-C) levels	Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass.	Growth hormone receptor signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003340;negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;ISS|GO:0007165;signal transduction;IEA|GO:0007259;JAK-STAT cascade;IDA|GO:0008015;blood circulation;ISS|GO:0010742;macrophage derived foam cell differentiation;IDA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0034097;response to cytokine;ISS|GO:0035456;response to interferon-beta;IMP|GO:0035458;cellular response to interferon-beta;IMP|GO:0042981;regulation of apoptotic process;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043434;response to peptide hormone;ISS|GO:0045648;positive regulation of erythrocyte differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046725;negative regulation by virus of viral protein levels in host cell;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0051591;response to cAMP;ISS|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0061326;renal tubule development;IMP|GO:0072136;metanephric mesenchymal cell proliferation involved in metanephros development;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072308;negative regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003340;negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;ISS|GO:0007165;signal transduction;IEA|GO:0007259;JAK-STAT cascade;IDA|GO:0008015;blood circulation;ISS|GO:0010742;macrophage derived foam cell differentiation;IDA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0034097;response to cytokine;ISS|GO:0035456;response to interferon-beta;IMP|GO:0035458;cellular response to interferon-beta;IMP|GO:0042981;regulation of apoptotic process;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043434;response to peptide hormone;ISS|GO:0045648;positive regulation of erythrocyte differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046725;negative regulation by virus of viral protein levels in host cell;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0051591;response to cAMP;ISS|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0061326;renal tubule development;IMP|GO:0072136;metanephric mesenchymal cell proliferation involved in metanephros development;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072308;negative regulation of metanephric nephron tubule epithelial cell differentiation;ISS	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IDA|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004871;signal transducer activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STAT1	https://www.uniprot.org/uniprot/P42224	https://hpo.jax.org/app/browse/search?q=STAT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600555	http://www.informatics.jax.org/searchtool/Search.do?query=STAT1&submit=Quick%0D%117ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAT1	rs45479293	0.0081869	0.0170	0.0148	1	0	0	intronic	intronic	intronic	STAT1	STAT1	ENSG00000115415	Na	Na	Na	Na	Na	Na	Het;G>A	249;14|13	Hom;G>A	1289;0|46
N	N	-	2	191886093	191886093	T	C	snp	upstream	 	 	 	 	STAT1	Stat1	ENSG00000115415	signal transducer and activator of transcription 1	chr2:191829084-191885686	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]	Hepatitis C, Chronic|Liver Cirrhosis; cervical intraepithelial neoplasia grade 3; bladder cancer; Glioblastoma|Glioma; myeloid leukemia; lung cancer ; hepatitis B; null; chronic obstructive pulmonary disease; Carcinoma, Medullary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; Lupus Erythematosus, Systemic; lung cancer; ovarian cancer; Hepatitis B, Chronic|Viremia; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C|Remission, Spontaneous; breast cancer ; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hepatitis C, Chronic|Multiple Sclerosis; Tobacco Use Disorder; respiratory syncytial virus bronchiolitis; tuberculosis; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; multiple sclerosis; osteoporosis; Neoplasms; Meningeal Neoplasms|meningioma; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; Type 2 Diabetes| edema | rosiglitazone; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hypersensitivity, Immediate; Lymphoma, Large B-Cell, Diffuse; Bone Mineral Density; Dengue Hemorrhagic Fever; plasma HDL cholesterol (HDL-C) levels	Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass.	Growth hormone receptor signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003340;negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;ISS|GO:0007165;signal transduction;IEA|GO:0007259;JAK-STAT cascade;IDA|GO:0008015;blood circulation;ISS|GO:0010742;macrophage derived foam cell differentiation;IDA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0034097;response to cytokine;ISS|GO:0035456;response to interferon-beta;IMP|GO:0035458;cellular response to interferon-beta;IMP|GO:0042981;regulation of apoptotic process;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043434;response to peptide hormone;ISS|GO:0045648;positive regulation of erythrocyte differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046725;negative regulation by virus of viral protein levels in host cell;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0051591;response to cAMP;ISS|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0061326;renal tubule development;IMP|GO:0072136;metanephric mesenchymal cell proliferation involved in metanephros development;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072308;negative regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003340;negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;ISS|GO:0007165;signal transduction;IEA|GO:0007259;JAK-STAT cascade;IDA|GO:0008015;blood circulation;ISS|GO:0010742;macrophage derived foam cell differentiation;IDA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0034097;response to cytokine;ISS|GO:0035456;response to interferon-beta;IMP|GO:0035458;cellular response to interferon-beta;IMP|GO:0042981;regulation of apoptotic process;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043434;response to peptide hormone;ISS|GO:0045648;positive regulation of erythrocyte differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046725;negative regulation by virus of viral protein levels in host cell;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0051591;response to cAMP;ISS|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0061326;renal tubule development;IMP|GO:0072136;metanephric mesenchymal cell proliferation involved in metanephros development;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072308;negative regulation of metanephric nephron tubule epithelial cell differentiation;ISS	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IDA|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004871;signal transducer activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STAT1	https://www.uniprot.org/uniprot/P42224	https://hpo.jax.org/app/browse/search?q=STAT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600555	http://www.informatics.jax.org/searchtool/Search.do?query=STAT1&submit=Quick%0D%117ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAT1	rs12693592	0.541534	0	0	1	0	0	intergenic	intergenic	upstream	STAT1(dist=7117),STAT4(dist=8209)	STAT1(dist=7117),STAT4(dist=8209)	ENSG00000115415,ENSG00000231858	Na	Na	Na	Na	Na	Na	Het;T>C	70;4|3	Hom;T>C	272;0|9
N	N	-	2	191896045	191896045	T	G	snp	ncRNA_intronic	 	 	 	 	AC067945.3																		rs1517351	0.301518	0	0	1	0	0	intronic	intronic	ncRNA_intronic	STAT4	STAT4	ENSG00000231858	Na	Na	Na	Na	Na	Na	Het;T>G	75;3|3	Hom;T>G	258;0|7
N	N	-	2	192160839	192160839	A	T	snp	synonymous SNV	A138T	T46T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MYO1B	Myo1b	ENSG00000128641	myosin IB	chr2:192109911-192290115		Body Mass Index; Body Weight; gamma-Glutamyltransferase	 		GO:0006892;post-Golgi vesicle-mediated transport;IMP|GO:0007015;actin filament organization;IMP|GO:0030048;actin filament-based movement;ISS|GO:0051017;actin filament bundle assembly;ISS	GO:0005737;cytoplasm;ISS|GO:0005769;early endosome;IDA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;ISS|GO:0010008;endosome membrane;IDA|GO:0016459;myosin complex;IEA|GO:0030175;filopodium;ISS|GO:0032588;trans-Golgi network membrane;IDA|GO:0045177;apical part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;ISS	GO:0000146;microfilament motor activity;IMP|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030898;actin-dependent ATPase activity;IEA|GO:0045296;cadherin binding;IDA|GO:0051015;actin filament binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/MYO1B	https://www.uniprot.org/uniprot/O43795		https://www.ncbi.nlm.nih.gov/omim/?term=606537	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1B&submit=Quick%0D%6167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1B	rs4853574	0.509185	0.5088	0.5571	1	0	0	exonic	exonic	exonic	MYO1B	MYO1B	ENSG00000128641	synonymous SNV	synonymous SNV	unknown	MYO1B:NM_001161819:exon3:c.A138T:p.T46T,MYO1B:NM_001130158:exon3:c.A138T:p.T46T,MYO1B:NM_012223:exon3:c.A138T:p.T46T,	MYO1B:uc002uss.1:exon3:c.A138T:p.T46T,MYO1B:uc002usr.2:exon3:c.A138T:p.T46T,MYO1B:uc010fsg.2:exon3:c.A138T:p.T46T,MYO1B:uc002usq.2:exon3:c.A138T:p.T46T,	UNKNOWN	Het;A>T	1220;80|58	Hom;A>T	3686;0|137
N	N	-	2	192160875	192160875	C	T	snp	synonymous SNV	C174T	Y58Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	MYO1B	Myo1b	ENSG00000128641	myosin IB	chr2:192109911-192290115		Body Mass Index; Body Weight; gamma-Glutamyltransferase	 		GO:0006892;post-Golgi vesicle-mediated transport;IMP|GO:0007015;actin filament organization;IMP|GO:0030048;actin filament-based movement;ISS|GO:0051017;actin filament bundle assembly;ISS	GO:0005737;cytoplasm;ISS|GO:0005769;early endosome;IDA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;ISS|GO:0010008;endosome membrane;IDA|GO:0016459;myosin complex;IEA|GO:0030175;filopodium;ISS|GO:0032588;trans-Golgi network membrane;IDA|GO:0045177;apical part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;ISS	GO:0000146;microfilament motor activity;IMP|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030898;actin-dependent ATPase activity;IEA|GO:0045296;cadherin binding;IDA|GO:0051015;actin filament binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/MYO1B	https://www.uniprot.org/uniprot/O43795		https://www.ncbi.nlm.nih.gov/omim/?term=606537	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1B&submit=Quick%0D%6167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1B	rs4853575	0.509385	0.5088	0.5578	1	0	0	exonic	exonic	exonic	MYO1B	MYO1B	ENSG00000128641	synonymous SNV	synonymous SNV	unknown	MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y,	MYO1B:uc002uss.1:exon3:c.C174T:p.Y58Y,MYO1B:uc002usr.2:exon3:c.C174T:p.Y58Y,MYO1B:uc010fsg.2:exon3:c.C174T:p.Y58Y,MYO1B:uc002usq.2:exon3:c.C174T:p.Y58Y,	UNKNOWN	Het;C>T	1296;77|66	Hom;C>T	4097;0|155
N	N	-	2	192161103	192161103	A	ATTCT	indel	intronic	 	 	 	 	MYO1B	Myo1b	ENSG00000128641	myosin IB	chr2:192109911-192290115		Body Mass Index; Body Weight; gamma-Glutamyltransferase	 		GO:0006892;post-Golgi vesicle-mediated transport;IMP|GO:0007015;actin filament organization;IMP|GO:0030048;actin filament-based movement;ISS|GO:0051017;actin filament bundle assembly;ISS	GO:0005737;cytoplasm;ISS|GO:0005769;early endosome;IDA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;ISS|GO:0010008;endosome membrane;IDA|GO:0016459;myosin complex;IEA|GO:0030175;filopodium;ISS|GO:0032588;trans-Golgi network membrane;IDA|GO:0045177;apical part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;ISS	GO:0000146;microfilament motor activity;IMP|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030898;actin-dependent ATPase activity;IEA|GO:0045296;cadherin binding;IDA|GO:0051015;actin filament binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/MYO1B	https://www.uniprot.org/uniprot/O43795		https://www.ncbi.nlm.nih.gov/omim/?term=606537	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1B&submit=Quick%0D%6167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1B	rs10622945	0	0	0	1	0	0	intronic	intronic	intronic	MYO1B	MYO1B	ENSG00000128641	Na	Na	Na	Na	Na	Na	Het;+TTCT	59;10|3	Hom;+TTCT	272;0|7
N	N	-	2	192701393	192701393	A	G	snp	synonymous SNV	T534C	G178G	aliphatic,neutral	aliphatic,neutral	SDPR	Sdpr																	rs10167187	0.633786	0.5556	0.6054	1	0	0	exonic	exonic	exonic	SDPR	SDPR	ENSG00000168497	synonymous SNV	synonymous SNV	unknown	SDPR:NM_004657:exon2:c.T534C:p.G178G,	SDPR:uc002utb.3:exon2:c.T534C:p.G178G,	UNKNOWN	Het;A>G	618;62|31	Hom;A>G	2546;0|91
N	N	-	2	193559379	193559379	A	AGG	indel	intergenic	 	 	 	 	AC062039.1																		rs56954590	0.539537	0	0	1	0	0	intergenic	intergenic	intergenic	TMEFF2(dist=499720),PCGEM1(dist=55192)	TMEFF2(dist=499735),PCGEM1(dist=55192)	ENSG00000229395(dist=48947),ENSG00000227418(dist=55192)	Na	Na	Na	Na	Na	Na	Het;+GG	659;20|18	Hom;+GG	683;0|16
N	N	-	2	193559380	193559380	A	G	snp	intergenic	 	 	 	 	AC062039.1																		rs3028433	0.540535	0	0	1	0	0	intergenic	intergenic	intergenic	TMEFF2(dist=499721),PCGEM1(dist=55191)	TMEFF2(dist=499736),PCGEM1(dist=55191)	ENSG00000229395(dist=48948),ENSG00000227418(dist=55191)	Na	Na	Na	Na	Na	Na	Het;A>G	668;20|18	Hom;A>G	692;0|16
N	N	-	2	193640476	193640476	T	C	snp	ncRNA_exonic	 	 	 	 	PCGEM1																		rs13419834	0.553714	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PCGEM1	PCGEM1	ENSG00000227418	Na	Na	Na	Na	Na	Na	Het;T>C	1469;132|81	Hom;T>C	6250;1|235
N	N	-	2	193640978	193640978	A	AC	indel	ncRNA_exonic	 	 	 	 	PCGEM1																		rs386392185	0.603035	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PCGEM1	PCGEM1	ENSG00000227418	Na	Na	Na	Na	Na	Na	Het;+C	2208;82|81	Hom;+C	4822;1|142
N	N	-	2	193741525	193741525	C	T	snp	intergenic	 	 	 	 	PCGEM1																		rs10171624	0.490216	0	0	1	0	0	intergenic	intergenic	intergenic	PCGEM1(dist=99900),LOC101927406(dist=1467468)	PCGEM1(dist=99900),BC038548(dist=1467481)	ENSG00000227418(dist=99900),ENSG00000232658(dist=379683)	Na	Na	Na	Na	Na	Na	Het;C>T	170;6|6	Hom;C>T	328;0|10
N	N	-	2	194491711	194491711	G	A	snp	intergenic	 	 	 	 	AC092638.2																		rs4850476	0.916134	0	0	1	0	0	intergenic	intergenic	intergenic	PCGEM1(dist=850086),LOC101927406(dist=717282)	PCGEM1(dist=850086),BC038548(dist=717295)	ENSG00000235218(dist=349372),ENSG00000224219(dist=103568)	Na	Na	Na	Na	Na	Na	Het;G>A	696;43|37	Hom;G>A	1900;0|67
N	N	-	2	194641752	194641752	T	A	snp	intergenic	 	 	 	 	AC074290.1																		rs73981853	0.334465	0	0	1	0	0	intergenic	intergenic	intergenic	PCGEM1(dist=1000127),LOC101927406(dist=567241)	PCGEM1(dist=1000127),BC038548(dist=567254)	ENSG00000224219(dist=46339),ENSG00000260142(dist=121339)	Na	Na	Na	Na	Na	Na	Het;T>A	46;1|3	Hom;T>A	425;0|16
N	N	-	2	194741336	194741336	T	C	snp	intergenic	 	 	 	 	AC074290.1																		rs9678848	0.876997	0	0	1	0	0	intergenic	intergenic	intergenic	PCGEM1(dist=1099711),LOC101927406(dist=467657)	PCGEM1(dist=1099711),BC038548(dist=467670)	ENSG00000224219(dist=145923),ENSG00000260142(dist=21755)	Na	Na	Na	Na	Na	Na	Het;T>C	35;8|4	Hom;T>C	198;0|8
N	N	-	2	195595433	195595433	T	C	snp	ncRNA_intronic	 	 	 	 	LOC101927431																		rs801292	0.341653	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927431	BC038548(dist=311078),SLC39A10(dist=926099)	ENSG00000230173	Na	Na	Na	Na	Na	Na	Het;T>C	920;31|37	Hom;T>C	2252;0|76
N	N	-	2	195600989	195600989	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927431																		rs73065089	0.162939	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927431	BC038548(dist=316634),SLC39A10(dist=920543)	ENSG00000230173	Na	Na	Na	Na	Na	Na	Het;T>C	2059;84|90	Hom;T>C	4585;0|164
N	N	-	2	195624756	195624756	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927431																		rs801360	0.273962	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927431	BC038548(dist=340401),SLC39A10(dist=896776)	ENSG00000230173	Na	Na	Na	Na	Na	Na	Het;C>T	980;90|50	Hom;C>T	3452;0|124
N	N	-	2	195625358	195625358	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101927431																		rs73066905	0.193091	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927431	BC038548(dist=341003),SLC39A10(dist=896174)	ENSG00000230173	Na	Na	Na	Na	Na	Na	Het;C>T	1053;50|50	Hom;C>T	2584;0|89
N	N	-	2	195726234	195726234	G	A	snp	intergenic	 	 	 	 	LINC01790																		rs7600312	0.17472	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927431(dist=100075),SLC39A10(dist=795298)	BC038548(dist=441879),SLC39A10(dist=795298)	ENSG00000230173(dist=100075),ENSG00000235056(dist=142201)	Na	Na	Na	Na	Na	Na	Het;G>A	368;31|19	Hom;G>A	1443;0|56
N	N	-	2	196602614	196602614	G	GAAAT	indel	UTR3	*31C>ATTTC	 	 	 	DNAH7	Dnah7c	ENSG00000118997	dynein axonemal heavy chain 7	chr2:196602427-196933536	DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]	Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder; Neuroblastoma; Body Fat Distribution	 		GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0036159;inner dynein arm assembly;IMP|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IDA|GO:0030286;dynein complex;IEA|GO:0036156;inner dynein arm;IMP|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH7	https://www.uniprot.org/uniprot/Q8WXX0		https://www.ncbi.nlm.nih.gov/omim/?term=610061	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH7&submit=Quick%0D%5027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH7	rs147974774	0.114816	0.1700	0.1452	1	0	0	UTR3	UTR3	UTR3	DNAH7(NM_018897:c.*31C>ATTTC)	DNAH7(uc002uti.4:c.*31C>ATTTC,uc002utj.4:c.*31C>ATTTC)	ENSG00000118997(ENST00000312428:c.*31C>ATTTC,ENST00000409063:c.*31C>ATTTC)	Na	Na	Na	Na	Na	Na	Het;+AAAT	139;7|4	Hom;+AAAT	773;0|17
N	N	-	2	196822004	196822004	A	G	snp	nonsynonymous SNV	T3059C	I1020T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	DNAH7	Dnah7c	ENSG00000118997	dynein axonemal heavy chain 7	chr2:196602427-196933536	DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]	Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder; Neuroblastoma; Body Fat Distribution	 		GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0036159;inner dynein arm assembly;IMP|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IDA|GO:0030286;dynein complex;IEA|GO:0036156;inner dynein arm;IMP|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH7	https://www.uniprot.org/uniprot/Q8WXX0		https://www.ncbi.nlm.nih.gov/omim/?term=610061	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH7&submit=Quick%0D%5027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH7	rs62623378	0.0477236	0.0875	0.0908	0.38	5	13	exonic	exonic	exonic	DNAH7	DNAH7	ENSG00000118997	nonsynonymous SNV	nonsynonymous SNV	unknown	DNAH7:NM_018897:exon19:c.T3059C:p.I1020T,	DNAH7:uc002utj.4:exon19:c.T3059C:p.I1020T,	UNKNOWN	Het;A>G	272;26|15	Hom;A>G	952;2|38
N	N	-	2	196849453	196849453	C	T	snp	intronic	 	 	 	 	DNAH7	Dnah7c	ENSG00000118997	dynein axonemal heavy chain 7	chr2:196602427-196933536	DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]	Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder; Neuroblastoma; Body Fat Distribution	 		GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0036159;inner dynein arm assembly;IMP|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IDA|GO:0030286;dynein complex;IEA|GO:0036156;inner dynein arm;IMP|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH7	https://www.uniprot.org/uniprot/Q8WXX0		https://www.ncbi.nlm.nih.gov/omim/?term=610061	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH7&submit=Quick%0D%5027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH7	rs17363011	0.0766773	0.1360	0.1339	1	0	0	intronic	intronic	intronic	DNAH7	DNAH7	ENSG00000118997	Na	Na	Na	Na	Na	Na	Het;C>T	923;41|44	Hom;C>T	2441;0|92
N	N	-	2	196849517	196849517	T	C	snp	intronic	 	 	 	 	DNAH7	Dnah7c	ENSG00000118997	dynein axonemal heavy chain 7	chr2:196602427-196933536	DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]	Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder; Neuroblastoma; Body Fat Distribution	 		GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0036159;inner dynein arm assembly;IMP|GO:0060285;cilium-dependent cell motility;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IDA|GO:0030286;dynein complex;IEA|GO:0036156;inner dynein arm;IMP|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH7	https://www.uniprot.org/uniprot/Q8WXX0		https://www.ncbi.nlm.nih.gov/omim/?term=610061	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH7&submit=Quick%0D%5027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH7	rs17363053	0.0756789	0	0	1	0	0	intronic	intronic	intronic	DNAH7	DNAH7	ENSG00000118997	Na	Na	Na	Na	Na	Na	Het;T>C	227;15|10	Hom;T>C	578;0|20
N	N	-	2	197080554	197080554	T	C	snp	intronic	 	 	 	 	HECW2	Hecw2	ENSG00000138411	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	chr2:197059094-197458416		Cholesterol, LDL; Tobacco Use Disorder; Life Expectancy	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HECW2	https://www.uniprot.org/uniprot/Q9P2P5	https://hpo.jax.org/app/browse/search?q=HECW2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617245	http://www.informatics.jax.org/searchtool/Search.do?query=HECW2&submit=Quick%0D%7726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HECW2	rs9288259	0.19369	0.2125	0.0875	1	0	0	intronic	intronic	intronic	HECW2	HECW2	ENSG00000138411	Na	Na	Na	Na	Na	Na	Het;T>C	1124;28|47	Hom;T>C	2057;1|78
N	N	-	2	197081963	197081963	C	G	snp	intronic	 	 	 	 	HECW2	Hecw2	ENSG00000138411	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	chr2:197059094-197458416		Cholesterol, LDL; Tobacco Use Disorder; Life Expectancy	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HECW2	https://www.uniprot.org/uniprot/Q9P2P5	https://hpo.jax.org/app/browse/search?q=HECW2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617245	http://www.informatics.jax.org/searchtool/Search.do?query=HECW2&submit=Quick%0D%7726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HECW2	rs370492659	0.00259585	0	0	1	0	0	intronic	intronic	intronic	HECW2	HECW2	ENSG00000138411	Na	Na	Na	Na	Na	Na	Het;C>G	172;4|6	Hom;C>G	174;0|5
N	N	-	2	197171104	197171104	G	A	snp	intronic	 	 	 	 	HECW2	Hecw2	ENSG00000138411	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	chr2:197059094-197458416		Cholesterol, LDL; Tobacco Use Disorder; Life Expectancy	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HECW2	https://www.uniprot.org/uniprot/Q9P2P5	https://hpo.jax.org/app/browse/search?q=HECW2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617245	http://www.informatics.jax.org/searchtool/Search.do?query=HECW2&submit=Quick%0D%7726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HECW2	rs6729640	0.601837	0	0	1	0	0	intronic	intronic	intronic	HECW2	HECW2	ENSG00000138411	Na	Na	Na	Na	Na	Na	Het;G>A	109;4|5	Hom;G>A	998;0|27
N	N	-	2	197171183	197171183	C	T	snp	intronic	 	 	 	 	HECW2	Hecw2	ENSG00000138411	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	chr2:197059094-197458416		Cholesterol, LDL; Tobacco Use Disorder; Life Expectancy	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HECW2	https://www.uniprot.org/uniprot/Q9P2P5	https://hpo.jax.org/app/browse/search?q=HECW2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617245	http://www.informatics.jax.org/searchtool/Search.do?query=HECW2&submit=Quick%0D%7726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HECW2	rs12468199	0.539337	0.4925	0.6207	1	0	0	intronic	intronic	intronic	HECW2	HECW2	ENSG00000138411	Na	Na	Na	Na	Na	Na	Het;C>T	856;46|39	Hom;C>T	4199;1|98
N	N	-	2	197504545	197504545	C	G	snp	intronic	 	 	 	 	CCDC150	Ccdc150	ENSG00000144395	coiled-coil domain containing 150	chr2:197504278-197628214			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC150	https://www.uniprot.org/uniprot/Q8NCX0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC150&submit=Quick%0D%8601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC150	rs1879128	0.688898	0.6418	0.7189	1	0	0	intronic	intronic	intronic	CCDC150	CCDC150	ENSG00000144395	Na	Na	Na	Na	Na	Na	Het;C>G	630;45|33	Hom;C>G	1541;0|58
N	N	-	2	197565311	197565311	C	T	snp	intronic	 	 	 	 	CCDC150	Ccdc150	ENSG00000144395	coiled-coil domain containing 150	chr2:197504278-197628214			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC150	https://www.uniprot.org/uniprot/Q8NCX0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC150&submit=Quick%0D%8601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC150	rs1105061	0.839457	0	0	1	0	0	intronic	intronic	intronic	CCDC150	CCDC150	ENSG00000144395	Na	Na	Na	Na	Na	Na	Het;C>T	215;20|10	Hom;C>T	539;0|18
N	N	-	2	197584504	197584504	C	T	snp	intronic	 	 	 	 	CCDC150	Ccdc150	ENSG00000144395	coiled-coil domain containing 150	chr2:197504278-197628214			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC150	https://www.uniprot.org/uniprot/Q8NCX0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC150&submit=Quick%0D%8601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC150	rs2680970	0.826278	0	0	1	0	0	intronic	intronic	intronic	CCDC150	CCDC150	ENSG00000144395	Na	Na	Na	Na	Na	Na	Het;C>T	136;2|6	Hom;C>T	431;0|15
N	N	-	2	198498316	198498316	T	G	snp	intronic	 	 	 	 	RFTN2	Rftn2	ENSG00000162944	raftlin family member 2	chr2:198432948-198540769		Body Fat Distribution	 		GO:0032596;protein transport into membrane raft;IBA|GO:0033227;dsRNA transport;IEA|GO:0043330;response to exogenous dsRNA;IEA|GO:0050851;antigen receptor-mediated signaling pathway;IBA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IBA		http://www.genecards.org/index.php?path=/Search/keyword/RFTN2				http://www.informatics.jax.org/searchtool/Search.do?query=RFTN2&submit=Quick%0D%10838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RFTN2	rs1979239	0.680911	0	0	1	0	0	intronic	intronic	intronic	RFTN2	RFTN2	ENSG00000162944	Na	Na	Na	Na	Na	Na	Het;T>G	39;4|2	Hom;T>G	184;0|5
N	N	-	2	200245245	200245245	C	G	snp	intronic	 	 	 	 	SATB2	Satb2	ENSG00000119042	SATB homeobox 2	chr2:200134223-200335989	This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]	ulcerative colitis; oral clefts; Blood Pressure; cleft lip with cleft palate; cleft lip without cleft palate; Colitis, Ulcerative; Cleft Lip|Cleft Palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Homozygous inactivation of this gene causes complete perinatal lethality and craniofacial anomalies, such as cleft palate, micrognathia, microcephaly, decreased tongue size, absent incisors and nasal capsule hypoplasia, and leads to short limbs and defects in osteoblast differentiation and function.	SUMOylation of chromatin organization proteins	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001764;neuron migration;IEA|GO:0002076;osteoblast development;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0021902;commitment of neuronal cell to specific neuron type in forebrain;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0051216;cartilage development;IEA|GO:0060021;palate development;IEA|GO:0071310;cellular response to organic substance;IEA	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0016363;nuclear matrix;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SATB2	https://www.uniprot.org/uniprot/Q9UPW6	https://hpo.jax.org/app/browse/search?q=SATB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608148	http://www.informatics.jax.org/searchtool/Search.do?query=SATB2&submit=Quick%0D%5031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SATB2	rs1348813	0.497404	0.6290	0.6658	1	0	0	intronic	intronic	intronic	SATB2	SATB2	ENSG00000119042	Na	Na	Na	Na	Na	Na	Het;C>G	485;39|25	Hom;C>G	974;2|35
N	N	-	2	200261230	200261230	G	A	snp	UTR3	*776C>T	 	 	 	SATB2	Satb2	ENSG00000119042	SATB homeobox 2	chr2:200134223-200335989	This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]	ulcerative colitis; oral clefts; Blood Pressure; cleft lip with cleft palate; cleft lip without cleft palate; Colitis, Ulcerative; Cleft Lip|Cleft Palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Homozygous inactivation of this gene causes complete perinatal lethality and craniofacial anomalies, such as cleft palate, micrognathia, microcephaly, decreased tongue size, absent incisors and nasal capsule hypoplasia, and leads to short limbs and defects in osteoblast differentiation and function.	SUMOylation of chromatin organization proteins	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001764;neuron migration;IEA|GO:0002076;osteoblast development;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0021902;commitment of neuronal cell to specific neuron type in forebrain;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0051216;cartilage development;IEA|GO:0060021;palate development;IEA|GO:0071310;cellular response to organic substance;IEA	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0016363;nuclear matrix;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SATB2	https://www.uniprot.org/uniprot/Q9UPW6	https://hpo.jax.org/app/browse/search?q=SATB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608148	http://www.informatics.jax.org/searchtool/Search.do?query=SATB2&submit=Quick%0D%5031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SATB2	rs987281	0.463858	0	0	1	0	0	intronic	intronic	UTR3	SATB2	SATB2	ENSG00000119042(ENST00000440919:c.*776C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	999;44|45	Hom;G>A	2969;0|101
N	N	-	2	200524198	200524200	GGA	G	indel	upstream;downstream	 	 	 	 	ENSG00000213938																		rs77861184	0.241613	0	0	1	0	0	downstream	downstream	upstream;downstream	LOC101927641	BC035629	ENSG00000213938;ENSG00000238217	Na	Na	Na	Na	Na	Na	Het;-GA	113;6|4	Hom;-GA	503;0|12
N	N	-	2	200524744	200524744	G	A	snp	ncRNA_exonic	 	 	 	 	SEPHS1P6																		rs72920213	0.239417	0	0	1	0	0	downstream	downstream	ncRNA_exonic	LOC101927641	BC035629	ENSG00000213938	Na	Na	Na	Na	Na	Na	Het;G>A	75;11|4	Hom;G>A	842;0|30
N	N	-	2	20072839	20072839	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00954																		rs1437865	0.60004	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00954	LINC00954	ENSG00000228784	Na	Na	Na	Na	Na	Na	Het;A>G	39;3|3	Hom;A>G	115;0|4
N	N	-	2	20101363	20101363	G	A	snp	UTR5	-481C>T	 	 	 	TTC32	Ttc32	ENSG00000183891	tetratricopeptide repeat domain 32	chr2:20096404-20101747			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC32				http://www.informatics.jax.org/searchtool/Search.do?query=TTC32&submit=Quick%0D%15105ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC32	rs7584726	0.508586	0	0	1	0	0	intronic	intronic	UTR5	TTC32	TTC32	ENSG00000183891(ENST00000431392:c.-481C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	112;6|5	Hom;G>A	155;0|7
N	N	-	2	201397647	201397647	A	C	snp	intronic	 	 	 	 	SGOL2	 																	rs842939	0.700479	0.7729	0	1	0	0	intronic	intronic	intronic	SGOL2	SGOL2	ENSG00000163535	Na	Na	Na	Na	Na	Na	Het;A>C	83;5|5	Hom;A>C	286;0|10
N	N	-	2	201515939	201515939	T	C	snp	intronic	 	 	 	 	AOX1	Aox1	ENSG00000138356	aldehyde oxidase 1	chr2:201450591-201541787	Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Fibrinogen; Hearing Loss; longevity; Tobacco Use Disorder; inflammatory bowel disease 	 	Vitamins B6 activation to pyridoxal phosphate	GO:0006954;inflammatory response;TAS|GO:0009115;xanthine catabolic process;IBA|GO:0042816;vitamin B6 metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0072593;reactive oxygen species metabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004031;aldehyde oxidase activity;TAS|GO:0004854;xanthine dehydrogenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0043546;molybdopterin cofactor binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IBA|GO:0051287;NAD binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AOX1	https://www.uniprot.org/uniprot/Q06278		https://www.ncbi.nlm.nih.gov/omim/?term=602841	http://www.informatics.jax.org/searchtool/Search.do?query=AOX1&submit=Quick%0D%7711ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AOX1	rs868810	0.79353	0.9142	0.8513	1	0	0	intronic	intronic	intronic	AOX1	AOX1	ENSG00000138356	Na	Na	Na	Na	Na	Na	Het;T>C	578;19|27	Hom;T>C	1161;0|40
N	N	-	2	201719258	201719259	CA	C	indel	intronic	 	 	 	 	CLK1	Clk1	ENSG00000013441	CDC like kinase 1	chr2:201717732-201729422	This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]		 		GO:0006468;protein phosphorylation;IEA|GO:0008283;cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043484;regulation of RNA splicing;IMP|GO:0046777;protein autophosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLK1	https://www.uniprot.org/uniprot/P49759		https://www.ncbi.nlm.nih.gov/omim/?term=601951	http://www.informatics.jax.org/searchtool/Search.do?query=CLK1&submit=Quick%0D%595ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLK1	rs397795792	0.513578	0	0	1	0	0	intronic	intronic	intronic	CLK1	CLK1	ENSG00000013441	Na	Na	Na	Na	Na	Na	Het;-A	136;2|10	Hom;-A	216;1|13
N	N	-	2	202598113	202598113	C	T	snp	synonymous SNV	G2466A	V822V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ALS2	Als2	ENSG00000003393	ALS2, alsin Rho guanine nucleotide exchange factor	chr2:202565277-202645912	The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	sporadic amyotrophic lateral sclerosis; ALS/amyotrophic lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis; Tobacco Use Disorder; smoking cessation; Multiple Sclerosis	Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired  axonal transport, and mild neurolopathogical deficits including axonal  degeneration in the corticospinal tract.	RAB GEFs exchange GTP for GDP on RABs	GO:0001662;behavioral fear response;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001881;receptor recycling;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007032;endosome organization;IGI|GO:0007409;axonogenesis;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0007626;locomotory behavior;IEA|GO:0008104;protein localization;IEA|GO:0008219;cell death;IEA|GO:0016050;vesicle organization;IEA|GO:0016197;endosomal transport;IEA|GO:0016601;Rac protein signal transduction;IEA|GO:0035022;positive regulation of Rac protein signal transduction;IC|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0048812;neuron projection morphogenesis;IDA|GO:0051036;regulation of endosome size;IEP|GO:0061024;membrane organization;TAS|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IDA|GO:0030426;growth cone;IEA|GO:0031982;vesicle;IDA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0043539;protein serine/threonine kinase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ALS2	https://www.uniprot.org/uniprot/Q96Q42	https://hpo.jax.org/app/browse/search?q=ALS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606352	http://www.informatics.jax.org/searchtool/Search.do?query=ALS2&submit=Quick%0D%304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALS2	rs2276615	0.372404	0.4680	0.5272	1	0	0	exonic	exonic	exonic	ALS2	ALS2	ENSG00000003393	synonymous SNV	synonymous SNV	unknown	ALS2:NM_020919:exon13:c.G2466A:p.V822V,	ALS2:uc002uyo.3:exon13:c.G2466A:p.V822V,ALS2:uc002uyp.4:exon13:c.G2466A:p.V822V,	UNKNOWN	Het;C>T	1483;56|70	Hom;C>T	2554;0|98
N	N	-	2	202606639	202606639	G	A	snp	intronic	 	 	 	 	ALS2	Als2	ENSG00000003393	ALS2, alsin Rho guanine nucleotide exchange factor	chr2:202565277-202645912	The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	sporadic amyotrophic lateral sclerosis; ALS/amyotrophic lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis; Tobacco Use Disorder; smoking cessation; Multiple Sclerosis	Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired  axonal transport, and mild neurolopathogical deficits including axonal  degeneration in the corticospinal tract.	RAB GEFs exchange GTP for GDP on RABs	GO:0001662;behavioral fear response;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001881;receptor recycling;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007032;endosome organization;IGI|GO:0007409;axonogenesis;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0007626;locomotory behavior;IEA|GO:0008104;protein localization;IEA|GO:0008219;cell death;IEA|GO:0016050;vesicle organization;IEA|GO:0016197;endosomal transport;IEA|GO:0016601;Rac protein signal transduction;IEA|GO:0035022;positive regulation of Rac protein signal transduction;IC|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0048812;neuron projection morphogenesis;IDA|GO:0051036;regulation of endosome size;IEP|GO:0061024;membrane organization;TAS|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IDA|GO:0030426;growth cone;IEA|GO:0031982;vesicle;IDA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0043539;protein serine/threonine kinase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ALS2	https://www.uniprot.org/uniprot/Q96Q42	https://hpo.jax.org/app/browse/search?q=ALS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606352	http://www.informatics.jax.org/searchtool/Search.do?query=ALS2&submit=Quick%0D%304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALS2	rs3731703	0.434105	0	0	1	0	0	intronic	intronic	intronic	ALS2	ALS2	ENSG00000003393	Na	Na	Na	Na	Na	Na	Het;G>A	112;8|5	Hom;G>A	524;0|17
N	N	-	2	202955454	202955454	G	C	snp	intronic	 	 	 	 	KIAA2012	Gm973																	rs1568535	0.704273	0	0.7981	1	0	0	intronic	intronic	intronic	KIAA2012	LOC100652824	ENSG00000182329	Na	Na	Na	Na	Na	Na	Het;G>C	521;22|23	Hom;G>C	985;0|33
N	N	-	2	202962358	202962358	G	C	snp	intronic	 	 	 	 	KIAA2012	Gm973																	rs6435124	0.466454	0	0	1	0	0	intronic	intronic	intronic	KIAA2012	LOC100652824	ENSG00000182329	Na	Na	Na	Na	Na	Na	Het;G>C	188;25|12	Hom;G>C	855;0|32
N	N	-	2	202964380	202964380	G	A	snp	synonymous SNV	G873A	E291E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LOC100652824																		rs2882486	0.472444	0	0.5094	1	0	0	exonic	exonic	exonic	KIAA2012	LOC100652824	ENSG00000182329	synonymous SNV	synonymous SNV	unknown	KIAA2012:NM_001277372:exon6:c.G873A:p.E291E,	LOC100652824:uc010zhu.1:exon6:c.G873A:p.E291E,LOC100652824:uc010ftp.2:exon7:c.G1041A:p.E347E,LOC100652824:uc031rqt.1:exon6:c.G873A:p.E291E,	UNKNOWN	Het;G>A	858;35|40	Hom;G>A	2210;2|86
N	N	-	2	202964528	202964528	T	C	snp	intronic	 	 	 	 	KIAA2012	Gm973																	rs2350722	0.472444	0	0.5319	1	0	0	intronic	intronic	intronic	KIAA2012	LOC100652824	ENSG00000182329	Na	Na	Na	Na	Na	Na	Het;T>C	847;51|41	Hom;T>C	1208;0|40
N	N	-	2	202964986	202964986	C	A	snp	intronic	 	 	 	 	KIAA2012	Gm973																	rs6755174	0.472444	0	0.5127	1	0	0	intronic	intronic	intronic	KIAA2012	LOC100652824	ENSG00000182329	Na	Na	Na	Na	Na	Na	Het;C>A	719;44|35	Hom;C>A	2154;0|80
N	N	-	2	202965222	202965222	A	G	snp	intronic	 	 	 	 	KIAA2012	Gm973																	rs6726731	0.472644	0	0.5163	1	0	0	intronic	intronic	intronic	KIAA2012	LOC100652824	ENSG00000182329	Na	Na	Na	Na	Na	Na	Het;A>G	800;20|31	Hom;A>G	1365;0|42
N	N	-	2	202979369	202979369	G	GACA	indel	ncRNA_intronic	 	 	 	 	AC079354.1																		rs141356250	0.368211	0	0	1	0	0	intronic	intronic	ncRNA_intronic	KIAA2012	LOC100652824	ENSG00000222035	Na	Na	Na	Na	Na	Na	Het;+ACA	452;19|13	Hom;+ACA	1583;0|36
N	N	-	2	202979964	202979964	C	T	snp	ncRNA_exonic	 	 	 	 	AC079354.1																		rs73989733	0.148562	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KIAA2012	LOC100652824	ENSG00000222035	Na	Na	Na	Na	Na	Na	Het;C>T	1990;70|85	Hom;C>T	4580;1|170
N	N	-	2	202980253	202980253	A	G	snp	ncRNA_exonic	 	 	 	 	AC079354.1																		rs2882485	0.368011	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KIAA2012	LOC100652824	ENSG00000222035	Na	Na	Na	Na	Na	Na	Het;A>G	1888;128|86	Hom;A>G	5416;0|191
N	N	-	2	202980637	202980637	G	GA	indel	ncRNA_exonic	 	 	 	 	AC079354.1																		rs11400699	0.679712	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KIAA2012	LOC100652824	ENSG00000222035	Na	Na	Na	Na	Na	Na	Het;+A	701;5|36	Hom;+A	654;7|32
N	N	-	2	202980718	202980718	A	G	snp	ncRNA_exonic	 	 	 	 	AC079354.1																		rs6747814	0.429513	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KIAA2012	LOC100652824	ENSG00000222035	Na	Na	Na	Na	Na	Na	Het;A>G	122;1|4	Hom;A>G	296;0|8
N	N	-	2	203152355	203152355	G	A	snp	intronic	 	 	 	 	NOP58	Nop58	ENSG00000055044	NOP58 ribonucleoprotein	chr2:203130439-203168389	The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000154;rRNA modification;IBA|GO:0006364;rRNA processing;TAS|GO:0016049;cell growth;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0048254;snoRNA localization;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005732;small nucleolar ribonucleoprotein complex;IDA|GO:0005829;cytosol;IDA|GO:0015030;Cajal body;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031428;box C/D snoRNP complex;NAS|GO:0032040;small-subunit processome;IBA|GO:0070761;pre-snoRNP complex;IDA	GO:0001094;TFIID-class transcription factor binding;IPI|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030515;snoRNA binding;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NOP58	https://www.uniprot.org/uniprot/Q9Y2X3		https://www.ncbi.nlm.nih.gov/omim/?term=616742	http://www.informatics.jax.org/searchtool/Search.do?query=NOP58&submit=Quick%0D%988ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOP58	rs7572505	0.358826	0.3432	0.2852	1	0	0	intronic	intronic	intronic	NOP58	NOP58	ENSG00000055044	Na	Na	Na	Na	Na	Na	Het;G>A	543;22|26	Hom;G>A	1153;0|46
N	N	-	2	203155015	203155016	GT	G	indel	intronic	 	 	 	 	NOP58	Nop58	ENSG00000055044	NOP58 ribonucleoprotein	chr2:203130439-203168389	The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000154;rRNA modification;IBA|GO:0006364;rRNA processing;TAS|GO:0016049;cell growth;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0048254;snoRNA localization;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005732;small nucleolar ribonucleoprotein complex;IDA|GO:0005829;cytosol;IDA|GO:0015030;Cajal body;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031428;box C/D snoRNP complex;NAS|GO:0032040;small-subunit processome;IBA|GO:0070761;pre-snoRNP complex;IDA	GO:0001094;TFIID-class transcription factor binding;IPI|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030515;snoRNA binding;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NOP58	https://www.uniprot.org/uniprot/Q9Y2X3		https://www.ncbi.nlm.nih.gov/omim/?term=616742	http://www.informatics.jax.org/searchtool/Search.do?query=NOP58&submit=Quick%0D%988ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOP58	rs11310035	0.358027	0.3463	0.2895	1	0	0	intronic	intronic	intronic	NOP58	NOP58	ENSG00000055044	Na	Na	Na	Na	Na	Na	Het;-T	763;35|31	Hom;-T	1404;0|45
N	N	-	2	203425475	203425475	C	T	snp	UTR3	*806C>T	 	 	 	BMPR2	Bmpr2	ENSG00000204217	bone morphogenetic protein receptor type 2	chr2:203241659-203432474	This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]	null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; pulmonary hypertension; scleroderma; Hypertension, Pulmonary; Cardiovascular Diseases; vasoreactivity; Monocytes; Anoxia|Hypertension|Hypertension, Pulmonary|Tricuspid Valve Insufficiency; pulmonary hypertension; Hepatopulmonary Syndrome|Liver Cirrhosis; heart anomalies, congenital; pulmonary hypertension; hypertension; colorectal cancer; Bone Mineral Density; juvenile polyposis; Tobacco Use Disorder; Cleft Lip|Cleft Palate	Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm.	Signaling by BMP	GO:0001707;mesoderm formation;IEA|GO:0001893;maternal placenta development;IEA|GO:0001935;endothelial cell proliferation;IMP|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0002063;chondrocyte development;IMP|GO:0003085;negative regulation of systemic arterial blood pressure;IMP|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;IEA|GO:0003183;mitral valve morphogenesis;ISS|GO:0003186;tricuspid valve morphogenesis;ISS|GO:0003197;endocardial cushion development;IEA|GO:0003252;negative regulation of cell proliferation involved in heart valve morphogenesis;IEA|GO:0006366;transcription from RNA polymerase II promoter;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IDA|GO:0007420;brain development;IEA|GO:0009267;cellular response to starvation;IEP|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010634;positive regulation of epithelial cell migration;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IMP|GO:0014916;regulation of lung blood pressure;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030166;proteoglycan biosynthetic process;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0032924;activin receptor signaling pathway;IEA|GO:0042127;regulation of cell proliferation;IMP|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0045778;positive regulation of ossification;IEA|GO:0045906;negative regulation of vasoconstriction;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048286;lung alveolus development;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060173;limb development;IEA|GO:0060350;endochondral bone morphogenesis;ISS|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060413;atrial septum morphogenesis;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061036;positive regulation of cartilage development;ISS|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061626;pharyngeal arch artery morphogenesis;ISS|GO:0071773;cellular response to BMP stimulus;IMP|GO:0072577;endothelial cell apoptotic process;IMP|GO:1902731;negative regulation of chondrocyte proliferation;IMP|GO:1905314;semi-lunar valve development;IEA|GO:2000279;negative regulation of DNA biosynthetic process;IMP	GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005901;caveola;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0009925;basal plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0044214;spanning component of plasma membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IEA|GO:0036122;BMP binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098821;BMP receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BMPR2		https://hpo.jax.org/app/browse/search?q=BMPR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600799	http://www.informatics.jax.org/searchtool/Search.do?query=BMPR2&submit=Quick%0D%17226ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BMPR2	rs6435156	0.327875	0	0	1	0	0	UTR3	UTR3	UTR3	BMPR2(NM_001204:c.*806C>T)	BMPR2(uc002uzf.4:c.*806C>T,uc010ftr.3:c.*1050C>T)	ENSG00000204217(ENST00000374580:c.*806C>T,ENST00000374574:c.*1050C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	435;25|23	Hom;C>T	1204;2|45
N	N	-	2	203661779	203661779	A	G	snp	intronic	 	 	 	 	ICA1L	Ica1l	ENSG00000163596	islet cell autoantigen 1 like	chr2:203640690-203736708		Tobacco Use Disorder	Mice homozygous for a hypomorphic allele exhibit reduced male fertility with oligospermia, globospermia, and abnormal spermiogenesis, sperm nucleus and mitochondrial sheath morphology.		GO:0007286;spermatid development;IEA	GO:0001669;acrosomal vesicle;IEA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ICA1L				http://www.informatics.jax.org/searchtool/Search.do?query=ICA1L&submit=Quick%0D%11019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ICA1L	rs6704822	0.8123	0	0	1	0	0	intronic	intronic	intronic	ICA1L	ICA1L	ENSG00000163596	Na	Na	Na	Na	Na	Na	Het;A>G	148;3|5	Hom;A>G	534;0|14
N	N	-	2	203690387	203690387	G	A	snp	UTR3	*17C>T	 	 	 	ICA1L	Ica1l	ENSG00000163596	islet cell autoantigen 1 like	chr2:203640690-203736708		Tobacco Use Disorder	Mice homozygous for a hypomorphic allele exhibit reduced male fertility with oligospermia, globospermia, and abnormal spermiogenesis, sperm nucleus and mitochondrial sheath morphology.		GO:0007286;spermatid development;IEA	GO:0001669;acrosomal vesicle;IEA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ICA1L				http://www.informatics.jax.org/searchtool/Search.do?query=ICA1L&submit=Quick%0D%11019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ICA1L	rs1344959	0.86881	0.8817	0.9199	1	0	0	intronic	UTR3	intronic	ICA1L	ICA1L(uc002uzk.1:c.*17C>T)	ENSG00000163596	Na	Na	Na	Na	Na	Na	Het;G>A	615;22|27	Hom;G>A	1410;0|54
N	N	-	2	203693559	203693559	C	G	snp	intronic	 	 	 	 	ICA1L	Ica1l	ENSG00000163596	islet cell autoantigen 1 like	chr2:203640690-203736708		Tobacco Use Disorder	Mice homozygous for a hypomorphic allele exhibit reduced male fertility with oligospermia, globospermia, and abnormal spermiogenesis, sperm nucleus and mitochondrial sheath morphology.		GO:0007286;spermatid development;IEA	GO:0001669;acrosomal vesicle;IEA	GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ICA1L				http://www.informatics.jax.org/searchtool/Search.do?query=ICA1L&submit=Quick%0D%11019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ICA1L	rs4675296	0.869609	0.8831	0.9177	1	0	0	intronic	intronic	intronic	ICA1L	ICA1L	ENSG00000163596	Na	Na	Na	Na	Na	Na	Het;C>G	1697;71|71	Hom;C>G	3249;0|113
N	N	-	2	203748544	203748544	A	AT	indel	intronic	 	 	 	 	WDR12	Wdr12	ENSG00000138442	WD repeat domain 12	chr2:203739505-203879521	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]	Myocardial Infarction; myocardial infarction (early onset); Coronary Disease|Coronary heart disease|Myocardial Infarction; Coronary Artery Disease	 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000463;maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000466;maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0006364;rRNA processing;TAS|GO:0007219;Notch signaling pathway;IEA|GO:0008283;cell proliferation;IMP|GO:0042254;ribosome biogenesis;IEA|GO:0042273;ribosomal large subunit biogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0030687;preribosome, large subunit precursor;IEA|GO:0070545;PeBoW complex;IDA	GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDR12	https://www.uniprot.org/uniprot/Q9GZL7		https://www.ncbi.nlm.nih.gov/omim/?term=616620	http://www.informatics.jax.org/searchtool/Search.do?query=WDR12&submit=Quick%0D%7733ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR12	rs34788166	0.885383	0	0	1	0	0	intronic	intronic	intronic	WDR12	WDR12	ENSG00000138442	Na	Na	Na	Na	Na	Na	Het;+T	295;3|15	Hom;+T	323;1|14
N	N	-	2	203921270	203921270	A	G	snp	intronic	 	 	 	 	NBEAL1	Nbeal1	ENSG00000144426	neurobeachin like 1	chr2:203879602-204091101		Alcoholism	 					http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1	https://www.uniprot.org/uniprot/Q6ZS30		https://www.ncbi.nlm.nih.gov/omim/?term=609816	http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1	rs4673241	0.877596	0.9005	0.9312	1	0	0	intronic	intronic	intronic	NBEAL1	NBEAL1	ENSG00000144426	Na	Na	Na	Na	Na	Na	Het;A>G	474;45|23	Hom;A>G	2095;0|71
N	N	-	2	203991488	203991488	A	G	snp	intronic	 	 	 	 	NBEAL1	Nbeal1	ENSG00000144426	neurobeachin like 1	chr2:203879602-204091101		Alcoholism	 					http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1	https://www.uniprot.org/uniprot/Q6ZS30		https://www.ncbi.nlm.nih.gov/omim/?term=609816	http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1	rs6725469	0.354233	0.2674	0.3230	1	0	0	intronic	intronic	intronic	NBEAL1	NBEAL1	ENSG00000144426	Na	Na	Na	Na	Na	Na	Het;A>G	1222;48|48	Hom;A>G	3839;0|131
N	N	-	2	203996635	203996635	T	G	snp	intronic	 	 	 	 	NBEAL1	Nbeal1	ENSG00000144426	neurobeachin like 1	chr2:203879602-204091101		Alcoholism	 					http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1	https://www.uniprot.org/uniprot/Q6ZS30		https://www.ncbi.nlm.nih.gov/omim/?term=609816	http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1	rs9677190	0.375799	0	0	1	0	0	intronic	intronic	intronic	NBEAL1	NBEAL1	ENSG00000144426	Na	Na	Na	Na	Na	Na	Het;T>G	326;14|11	Hom;T>G	939;0|27
N	N	-	2	203996870	203996870	A	G	snp	intronic	 	 	 	 	NBEAL1	Nbeal1	ENSG00000144426	neurobeachin like 1	chr2:203879602-204091101		Alcoholism	 					http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1	https://www.uniprot.org/uniprot/Q6ZS30		https://www.ncbi.nlm.nih.gov/omim/?term=609816	http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1	rs6748898	0.896765	0.9236	0.9418	1	0	0	intronic	intronic	intronic	NBEAL1	NBEAL1	ENSG00000144426	Na	Na	Na	Na	Na	Na	Het;A>G	1443;102|68	Hom;A>G	4067;0|137
N	N	-	2	204002809	204002809	A	C	snp	intronic	 	 	 	 	NBEAL1	Nbeal1	ENSG00000144426	neurobeachin like 1	chr2:203879602-204091101		Alcoholism	 					http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1	https://www.uniprot.org/uniprot/Q6ZS30		https://www.ncbi.nlm.nih.gov/omim/?term=609816	http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1	rs10180815	0.881989	0	0	1	0	0	intronic	intronic	intronic	NBEAL1	NBEAL1	ENSG00000144426	Na	Na	Na	Na	Na	Na	Het;A>C	143;9|6	Hom;A>C	379;0|12
N	N	-	2	204062061	204062061	A	G	snp	nonsynonymous SNV	A6988G	I2330V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NBEAL1	Nbeal1	ENSG00000144426	neurobeachin like 1	chr2:203879602-204091101		Alcoholism	 					http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1	https://www.uniprot.org/uniprot/Q6ZS30		https://www.ncbi.nlm.nih.gov/omim/?term=609816	http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1	rs4675323	0.860823	0.8938	0.9359	0.23	3	13	exonic	exonic	exonic	NBEAL1	NBEAL1	ENSG00000144426	nonsynonymous SNV	nonsynonymous SNV	unknown	NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V,	NBEAL1:uc002uzt.3:exon47:c.A6988G:p.I2330V,	UNKNOWN	Het;A>G	360;62|24	Hom;A>G	1958;0|73
N	N	-	2	204111394	204111394	T	C	snp	intronic	 	 	 	 	CYP20A1	Cyp20a1	ENSG00000119004	cytochrome P450 family 20 subfamily A member 1	chr2:204103663-204163009	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]	Hearing Loss; Body Height; Chronic renal failure|Kidney Failure, Chronic	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP20A1	https://www.uniprot.org/uniprot/Q6UW02			http://www.informatics.jax.org/searchtool/Search.do?query=CYP20A1&submit=Quick%0D%5028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP20A1	rs13015873	0.906949	0	0	1	0	0	intronic	intronic	intronic	CYP20A1	CYP20A1	ENSG00000119004	Na	Na	Na	Na	Na	Na	Het;T>C	293;5|7	Hom;T>C	917;0|20
N	N	-	2	204111398	204111402	GTTAA	G	indel	intronic	 	 	 	 	CYP20A1	Cyp20a1	ENSG00000119004	cytochrome P450 family 20 subfamily A member 1	chr2:204103663-204163009	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]	Hearing Loss; Body Height; Chronic renal failure|Kidney Failure, Chronic	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP20A1	https://www.uniprot.org/uniprot/Q6UW02			http://www.informatics.jax.org/searchtool/Search.do?query=CYP20A1&submit=Quick%0D%5028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP20A1	rs10586509	0.90595	0	0	1	0	0	intronic	intronic	intronic	CYP20A1	CYP20A1	ENSG00000119004	Na	Na	Na	Na	Na	Na	Het;-TTAA	284;5|8	Hom;-TTAA	908;0|21
N	N	-	2	204111443	204111443	A	G	snp	intronic	 	 	 	 	CYP20A1	Cyp20a1	ENSG00000119004	cytochrome P450 family 20 subfamily A member 1	chr2:204103663-204163009	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]	Hearing Loss; Body Height; Chronic renal failure|Kidney Failure, Chronic	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP20A1	https://www.uniprot.org/uniprot/Q6UW02			http://www.informatics.jax.org/searchtool/Search.do?query=CYP20A1&submit=Quick%0D%5028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP20A1	rs6435176	0.86901	0.8904	0.9368	1	0	0	intronic	intronic	intronic	CYP20A1	CYP20A1	ENSG00000119004	Na	Na	Na	Na	Na	Na	Het;A>G	396;20|17	Hom;A>G	1405;0|41
N	N	-	2	204116690	204116690	C	T	snp	nonsynonymous SNV	C290T	S97L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	CYP20A1	Cyp20a1	ENSG00000119004	cytochrome P450 family 20 subfamily A member 1	chr2:204103663-204163009	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]	Hearing Loss; Body Height; Chronic renal failure|Kidney Failure, Chronic	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP20A1	https://www.uniprot.org/uniprot/Q6UW02			http://www.informatics.jax.org/searchtool/Search.do?query=CYP20A1&submit=Quick%0D%5028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP20A1	rs2043449	0.869409	0.8881	0.9364	0.15	2	13	exonic	exonic	exonic	CYP20A1	CYP20A1	ENSG00000119004	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP20A1:NM_177538:exon4:c.C290T:p.S97L,	CYP20A1:uc010zif.2:exon4:c.C290T:p.S97L,CYP20A1:uc002uzv.4:exon4:c.C290T:p.S97L,	UNKNOWN	Het;C>T	542;45|27	Hom;C>T	2446;0|88
N	N	-	2	204116887	204116887	T	G	snp	intronic	 	 	 	 	CYP20A1	Cyp20a1	ENSG00000119004	cytochrome P450 family 20 subfamily A member 1	chr2:204103663-204163009	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]	Hearing Loss; Body Height; Chronic renal failure|Kidney Failure, Chronic	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP20A1	https://www.uniprot.org/uniprot/Q6UW02			http://www.informatics.jax.org/searchtool/Search.do?query=CYP20A1&submit=Quick%0D%5028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP20A1	rs2351771	0.869409	0	0	1	0	0	intronic	intronic	intronic	CYP20A1	CYP20A1	ENSG00000119004	Na	Na	Na	Na	Na	Na	Het;T>G	885;43|41	Hom;T>G	2503;0|89
N	N	-	2	204154686	204154686	A	G	snp	intronic	 	 	 	 	CYP20A1	Cyp20a1	ENSG00000119004	cytochrome P450 family 20 subfamily A member 1	chr2:204103663-204163009	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]	Hearing Loss; Body Height; Chronic renal failure|Kidney Failure, Chronic	 		GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP20A1	https://www.uniprot.org/uniprot/Q6UW02			http://www.informatics.jax.org/searchtool/Search.do?query=CYP20A1&submit=Quick%0D%5028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP20A1	rs10170454	0.870607	0	0	1	0	0	intronic	intronic	intronic	CYP20A1	CYP20A1	ENSG00000119004	Na	Na	Na	Na	Na	Na	Het;A>G	336;27|17	Hom;A>G	1363;0|44
N	N	-	2	20455176	20455177	GT	G	indel	intronic	 	 	 	 	PUM2	Pum2	ENSG00000055917	pumilio RNA binding family member 2	chr2:20448452-20551995	This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Attention Deficit Disorder with Hyperactivity; azoospermia	Mice homozygous for a gene trapped allele exhibit significantly smaller testes and seminiferous tubule degeneration but are otherwise viable and fertile.	Neddylation	GO:0006417;regulation of translation;IEA|GO:0010608;posttranscriptional regulation of gene expression;IDA|GO:0034063;stress granule assembly;IEA|GO:0043488;regulation of mRNA stability;IDA|GO:0051983;regulation of chromosome segregation;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:1900246;positive regulation of RIG-I signaling pathway;IDA|GO:2000637;positive regulation of gene silencing by miRNA;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IEA|GO:0031965;nuclear membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PUM2	https://www.uniprot.org/uniprot/Q8TB72		https://www.ncbi.nlm.nih.gov/omim/?term=607205	http://www.informatics.jax.org/searchtool/Search.do?query=PUM2&submit=Quick%0D%1001ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PUM2	rs111928251	0.420727	0	0	1	0	0	intronic	intronic	intronic	PUM2	PUM2	ENSG00000055917	Na	Na	Na	Na	Na	Na	Het;-T	375;9|25	Hom;-T	941;5|49
N	N	-	2	204637162	204637162	G	T	snp	downstream	 	 	 	 	NPM1P33																		rs6732274	0.758786	0	0	1	0	0	intergenic	intergenic	downstream	CD28(dist=33526),CTLA4(dist=95349)	CD28(dist=33526),CTLA4(dist=95349)	ENSG00000213925	Na	Na	Na	Na	Na	Na	Het;G>T	932;72|52	Hom;G>T	3808;0|143
N	N	-	2	205912210	205912210	C	A	snp	intronic	 	 	 	 	PARD3B	Pard3b	ENSG00000116117	par-3 family cell polarity regulator beta	chr2:205410516-206484886		Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Narcolepsy; Knee osteoarthritis; Tobacco Use Disorder	 		GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA	GO:0005923;bicellular tight junction;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PARD3B	https://www.uniprot.org/uniprot/Q8TEW8			http://www.informatics.jax.org/searchtool/Search.do?query=PARD3B&submit=Quick%0D%4702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARD3B	rs7563474	0.621206	0	0	1	0	0	intronic	intronic	intronic	PARD3B	PARD3B	ENSG00000116117	Na	Na	Na	Na	Na	Na	Het;C>A	158;11|8	Hom;C>A	350;0|11
N	N	-	2	205912403	205912403	T	C	snp	nonsynonymous SNV	T494C	L165P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PARD3B	Pard3b	ENSG00000116117	par-3 family cell polarity regulator beta	chr2:205410516-206484886		Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Narcolepsy; Knee osteoarthritis; Tobacco Use Disorder	 		GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA	GO:0005923;bicellular tight junction;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PARD3B	https://www.uniprot.org/uniprot/Q8TEW8			http://www.informatics.jax.org/searchtool/Search.do?query=PARD3B&submit=Quick%0D%4702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARD3B	rs1510765	0.544728	0.6114	0.6182	0.15	2	13	exonic	exonic	exonic	PARD3B	PARD3B	ENSG00000116117	nonsynonymous SNV	nonsynonymous SNV	unknown	PARD3B:NM_152526:exon4:c.T494C:p.L165P,PARD3B:NM_001302769:exon4:c.T494C:p.L165P,PARD3B:NM_057177:exon4:c.T494C:p.L165P,PARD3B:NM_205863:exon4:c.T494C:p.L165P,	PARD3B:uc002vap.2:exon4:c.T494C:p.L165P,PARD3B:uc010fub.2:exon4:c.T494C:p.L165P,PARD3B:uc002var.2:exon4:c.T494C:p.L165P,PARD3B:uc002vaq.2:exon4:c.T494C:p.L165P,PARD3B:uc002vao.2:exon4:c.T494C:p.L165P,	UNKNOWN	Het;T>C	480;29|22	Hom;T>C	1138;0|43
N	N	-	2	205978114	205978114	A	G	snp	intronic	 	 	 	 	PARD3B	Pard3b	ENSG00000116117	par-3 family cell polarity regulator beta	chr2:205410516-206484886		Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Narcolepsy; Knee osteoarthritis; Tobacco Use Disorder	 		GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA	GO:0005923;bicellular tight junction;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PARD3B	https://www.uniprot.org/uniprot/Q8TEW8			http://www.informatics.jax.org/searchtool/Search.do?query=PARD3B&submit=Quick%0D%4702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARD3B	rs1848948	0.584465	0	0	1	0	0	intronic	intronic	intronic	PARD3B	PARD3B	ENSG00000116117	Na	Na	Na	Na	Na	Na	Het;A>G	194;8|5	Hom;A>G	268;0|6
N	N	-	2	205978117	205978117	G	T	snp	intronic	 	 	 	 	PARD3B	Pard3b	ENSG00000116117	par-3 family cell polarity regulator beta	chr2:205410516-206484886		Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Narcolepsy; Knee osteoarthritis; Tobacco Use Disorder	 		GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA	GO:0005923;bicellular tight junction;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA		http://www.genecards.org/index.php?path=/Search/keyword/PARD3B	https://www.uniprot.org/uniprot/Q8TEW8			http://www.informatics.jax.org/searchtool/Search.do?query=PARD3B&submit=Quick%0D%4702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARD3B	rs200620040	0	0	0	1	0	0	intronic	intronic	intronic	PARD3B	PARD3B	ENSG00000116117	Na	Na	Na	Na	Na	Na	Het;G>T	188;10|7	Hom;G>T	268;0|7
N	N	-	2	207101213	207101213	A	G	snp	ncRNA_exonic	 	 	 	 	AC007383.1																		rs2359165	0.561102	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GPR1-AS	GPR1AS	ENSG00000159186	Na	Na	Na	Na	Na	Na	Het;A>G	404;5|11	Hom;A>G	793;0|19
N	N	-	2	207101216	207101216	G	GA	indel	ncRNA_exonic	 	 	 	 	AC007383.1																		rs3839061	0.561102	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GPR1-AS	GPR1AS	ENSG00000159186	Na	Na	Na	Na	Na	Na	Het;+A	395;5|11	Hom;+A	760;0|18
N	N	-	2	207101446	207101446	G	A	snp	ncRNA_exonic	 	 	 	 	AC007383.1																		rs726165	0.624601	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GPR1-AS	GPR1AS	ENSG00000159186	Na	Na	Na	Na	Na	Na	Het;G>A	209;8|12	Hom;G>A	411;0|16
N	N	-	2	207101466	207101466	C	T	snp	ncRNA_exonic	 	 	 	 	AC007383.1																		rs959109	0.565495	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GPR1-AS	GPR1AS	ENSG00000159186	Na	Na	Na	Na	Na	Na	Het;C>T	461;5|12	Hom;C>T	1007;0|23
N	N	-	2	207101467	207101467	A	G	snp	ncRNA_exonic	 	 	 	 	AC007383.1																		rs726164	0.565495	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GPR1-AS	GPR1AS	ENSG00000159186	Na	Na	Na	Na	Na	Na	Het;A>G	461;5|12	Hom;A>G	1007;0|23
N	N	-	2	207121329	207121329	C	T	snp	ncRNA_intronic	 	 	 	 	GPR1AS																		rs1198541	0.404752	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	GPR1-AS	GPR1AS	ENSG00000159186(dist=19734),ENSG00000224070(dist=3023)	Na	Na	Na	Na	Na	Na	Het;C>T	126;6|7	Hom;C>T	203;0|7
N	N	-	2	207124756	207124756	A	G	snp	upstream;downstream	 	 	 	 	ENSG00000224070																		rs1861437	0.450879	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	upstream;downstream	GPR1-AS	GPR1AS	ENSG00000224070;ENSG00000252716	Na	Na	Na	Na	Na	Na	Het;A>G	438;15|20	Hom;A>G	985;0|36
N	N	-	2	207128291	207128291	T	C	snp	ncRNA_exonic	 	 	 	 	GPR1-AS																		rs10206513	0.463259	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	GPR1-AS	GPR1AS	ENSG00000252716(dist=3353),ENSG00000204186(dist=11096)	Na	Na	Na	Na	Na	Na	Het;T>C	1004;59|50	Hom;T>C	3411;0|123
N	N	-	2	207129351	207129351	T	C	snp	ncRNA_exonic	 	 	 	 	GPR1-AS																		rs12694048	0.470447	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	GPR1-AS	BC028329	ENSG00000252716(dist=4413),ENSG00000204186(dist=10036)	Na	Na	Na	Na	Na	Na	Het;T>C	2576;66|68	Hom;T>C	5736;0|131
N	N	-	2	207129361	207129361	A	G	snp	ncRNA_exonic	 	 	 	 	GPR1-AS																		rs4673347	0.410343	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	GPR1-AS	BC028329	ENSG00000252716(dist=4423),ENSG00000204186(dist=10026)	Na	Na	Na	Na	Na	Na	Het;A>G	2570;68|68	Hom;A>G	5666;0|129
N	N	-	2	207129603	207129603	T	A	snp	ncRNA_exonic	 	 	 	 	GPR1-AS																		rs4673348	0.40595	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	GPR1-AS	BC028329	ENSG00000252716(dist=4665),ENSG00000204186(dist=9784)	Na	Na	Na	Na	Na	Na	Het;T>A	151;3|6	Hom;T>A	315;0|11
N	N	-	2	207129831	207129831	T	C	snp	ncRNA_exonic	 	 	 	 	GPR1-AS																		rs7349337	0.433107	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	GPR1-AS	BC028329	ENSG00000252716(dist=4893),ENSG00000204186(dist=9556)	Na	Na	Na	Na	Na	Na	Het;T>C	2013;101|92	Hom;T>C	5396;0|198
N	N	-	2	207130084	207130084	A	G	snp	ncRNA_exonic	 	 	 	 	GPR1-AS																		rs2859987	0.493011	0	0	1	0	0	ncRNA_exonic	downstream	intergenic	GPR1-AS	BC028329	ENSG00000252716(dist=5146),ENSG00000204186(dist=9303)	Na	Na	Na	Na	Na	Na	Het;A>G	2606;88|110	Hom;A>G	4685;1|153
N	N	-	2	207154448	207154448	T	A	snp	intronic	 	 	 	 	ZDBF2	Zdbf2	ENSG00000283649	zinc finger DBF-type containing 2	chr2:207139387-207179148	This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]		Mice homozygous for a modified isoform encoding allele exhibit impaired methylation of the somatic differentially methylated region of the gene and decreased body weight and size when inherited paternally.				GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDBF2			https://www.ncbi.nlm.nih.gov/omim/?term=617059	http://www.informatics.jax.org/searchtool/Search.do?query=ZDBF2&submit=Quick%0D%22764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDBF2	rs11560126	0.48103	0	0	1	0	0	intronic	intronic	intronic	ZDBF2	ZDBF2	ENSG00000204186	Na	Na	Na	Na	Na	Na	Het;T>A	40;4|3	Hom;T>A	219;0|10
N	N	-	2	207169731	207169731	G	A	snp	nonsynonymous SNV	G479A	R160K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZDBF2	Zdbf2	ENSG00000283649	zinc finger DBF-type containing 2	chr2:207139387-207179148	This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]		Mice homozygous for a modified isoform encoding allele exhibit impaired methylation of the somatic differentially methylated region of the gene and decreased body weight and size when inherited paternally.				GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDBF2			https://www.ncbi.nlm.nih.gov/omim/?term=617059	http://www.informatics.jax.org/searchtool/Search.do?query=ZDBF2&submit=Quick%0D%22764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDBF2	rs10932150	0.405551	0.4602	0.4133	0.08	1	13	exonic	exonic	exonic	ZDBF2	ZDBF2	ENSG00000204186	nonsynonymous SNV	nonsynonymous SNV	unknown	ZDBF2:NM_020923:exon5:c.G479A:p.R160K,ZDBF2:NM_001285549:exon7:c.G473A:p.R158K,	ZDBF2:uc031rqy.1:exon7:c.G473A:p.R158K,ZDBF2:uc002vbp.2:exon5:c.G479A:p.R160K,	UNKNOWN	Het;G>A	1982;108|91	Hom;G>A	4034;0|151
N	N	-	2	207172627	207172627	A	G	snp	synonymous SNV	A3369G	Q1123Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZDBF2	Zdbf2	ENSG00000283649	zinc finger DBF-type containing 2	chr2:207139387-207179148	This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]		Mice homozygous for a modified isoform encoding allele exhibit impaired methylation of the somatic differentially methylated region of the gene and decreased body weight and size when inherited paternally.				GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDBF2			https://www.ncbi.nlm.nih.gov/omim/?term=617059	http://www.informatics.jax.org/searchtool/Search.do?query=ZDBF2&submit=Quick%0D%22764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDBF2	rs7582864	0.457867	0.5335	0.5294	1	0	0	exonic	exonic	exonic	ZDBF2	ZDBF2	ENSG00000204186	synonymous SNV	synonymous SNV	unknown	ZDBF2:NM_020923:exon5:c.A3375G:p.Q1125Q,ZDBF2:NM_001285549:exon7:c.A3369G:p.Q1123Q,	ZDBF2:uc031rqy.1:exon7:c.A3369G:p.Q1123Q,ZDBF2:uc002vbp.2:exon5:c.A3375G:p.Q1125Q,	UNKNOWN	Het;A>G	1999;87|95	Hom;A>G	4914;0|180
N	N	-	2	207174316	207174316	T	C	snp	synonymous SNV	T5058C	S1686S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZDBF2	Zdbf2	ENSG00000283649	zinc finger DBF-type containing 2	chr2:207139387-207179148	This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]		Mice homozygous for a modified isoform encoding allele exhibit impaired methylation of the somatic differentially methylated region of the gene and decreased body weight and size when inherited paternally.				GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDBF2			https://www.ncbi.nlm.nih.gov/omim/?term=617059	http://www.informatics.jax.org/searchtool/Search.do?query=ZDBF2&submit=Quick%0D%22764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDBF2	rs3732084	0.475639	0.5599	0.5394	1	0	0	exonic	exonic	exonic	ZDBF2	ZDBF2	ENSG00000204186	synonymous SNV	synonymous SNV	unknown	ZDBF2:NM_020923:exon5:c.T5064C:p.S1688S,ZDBF2:NM_001285549:exon7:c.T5058C:p.S1686S,	ZDBF2:uc031rqy.1:exon7:c.T5058C:p.S1686S,ZDBF2:uc002vbp.2:exon5:c.T5064C:p.S1688S,	UNKNOWN	Het;T>C	1088;54|53	Hom;T>C	3658;0|137
N	N	-	2	207881845	207881845	C	T	snp	intergenic	 	 	 	 	CPO		ENSG00000144410	carboxypeptidase O	chr2:207804278-207834198	This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011]	Asthma; Cholesterol	Mice homozygous for a spontaneous allele develop cataracts.		GO:0006508;proteolysis;IEA	GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0046658;anchored component of plasma membrane;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPO	https://www.uniprot.org/uniprot/Q8IVL8		https://www.ncbi.nlm.nih.gov/omim/?term=609563	http://www.informatics.jax.org/searchtool/Search.do?query=CPO&submit=Quick%0D%8605ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPO	rs6741227	0.313299	0	0	1	0	0	intergenic	intergenic	intergenic	CPO(dist=47647),KLF7(dist=57017)	CPO(dist=47647),KLF7(dist=57017)	ENSG00000144410(dist=47647),ENSG00000118263(dist=57016)	Na	Na	Na	Na	Na	Na	Het;C>T	365;24|20	Hom;C>T	1251;2|52
N	N	-	2	207942894	207942894	C	G	snp	UTR3	*3043G>C	 	 	 	KLF7	Klf7	ENSG00000118263	Kruppel like factor 7	chr2:207938861-208031991	The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]	diabetes, type 2; Exercise Test; Frontal Lobe; Blood Pressure Determination; Hemoglobins; Body Weight|Diabetes Mellitus, Type 2|Obesity|Overweight	Homozygous null mice die within 3 days of life, showing lack of gastic milk, hypopnea, cyanosis, olfactory bulb hypoplasia, no response to tail clamping, impaired axon projection in the olfactory and visual systems, cerebral cortex and hippocampus, and reduced dendritic branching in the hippocampus.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048813;dendrite morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF7	https://www.uniprot.org/uniprot/O75840		https://www.ncbi.nlm.nih.gov/omim/?term=604865	http://www.informatics.jax.org/searchtool/Search.do?query=KLF7&submit=Quick%0D%4957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF7	rs6725221	0.440096	0	0	1	0	0	UTR3	UTR3	UTR3	KLF7(NM_003709:c.*3043G>C,NM_001270944:c.*3043G>C,NM_001270943:c.*3043G>C,NM_001270942:c.*3057G>C)	KLF7(uc010zix.2:c.*3043G>C,uc002vbz.2:c.*3043G>C,uc031rqz.1:c.*3043G>C,uc002vca.2:c.*3057G>C,uc031rrb.1:c.*3043G>C)	ENSG00000118263(ENST00000309446:c.*3043G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	1292;57|56	Hom;C>G	3518;3|119
N	N	-	2	207943789	207943790	GT	G	indel	UTR3	*2148_*2147delinsC	 	 	 	KLF7	Klf7	ENSG00000118263	Kruppel like factor 7	chr2:207938861-208031991	The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]	diabetes, type 2; Exercise Test; Frontal Lobe; Blood Pressure Determination; Hemoglobins; Body Weight|Diabetes Mellitus, Type 2|Obesity|Overweight	Homozygous null mice die within 3 days of life, showing lack of gastic milk, hypopnea, cyanosis, olfactory bulb hypoplasia, no response to tail clamping, impaired axon projection in the olfactory and visual systems, cerebral cortex and hippocampus, and reduced dendritic branching in the hippocampus.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048813;dendrite morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF7	https://www.uniprot.org/uniprot/O75840		https://www.ncbi.nlm.nih.gov/omim/?term=604865	http://www.informatics.jax.org/searchtool/Search.do?query=KLF7&submit=Quick%0D%4957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF7	rs397987537	0.733626	0	0	1	0	0	UTR3	UTR3	UTR3	KLF7(NM_003709:c.*2148_*2147delinsC,NM_001270944:c.*2148_*2147delinsC,NM_001270943:c.*2148_*2147delinsC,NM_001270942:c.*2162_*2161delinsC)	KLF7(uc010zix.2:c.*2148_*2147delinsC,uc002vbz.2:c.*2148_*2147delinsC,uc031rqz.1:c.*2148_*2147delinsC,uc002vca.2:c.*2162_*2161delinsC,uc031rrb.1:c.*2148_*2147delinsC)	ENSG00000118263(ENST00000309446:c.*2148_*2147delinsC)	Na	Na	Na	Na	Na	Na	Het;-T	353;7|19	Hom;-T	765;3|37
N	N	-	2	207944474	207944475	CA	C	indel	UTR3	*1463_*1462delinsG	 	 	 	KLF7	Klf7	ENSG00000118263	Kruppel like factor 7	chr2:207938861-208031991	The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]	diabetes, type 2; Exercise Test; Frontal Lobe; Blood Pressure Determination; Hemoglobins; Body Weight|Diabetes Mellitus, Type 2|Obesity|Overweight	Homozygous null mice die within 3 days of life, showing lack of gastic milk, hypopnea, cyanosis, olfactory bulb hypoplasia, no response to tail clamping, impaired axon projection in the olfactory and visual systems, cerebral cortex and hippocampus, and reduced dendritic branching in the hippocampus.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048813;dendrite morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLF7	https://www.uniprot.org/uniprot/O75840		https://www.ncbi.nlm.nih.gov/omim/?term=604865	http://www.informatics.jax.org/searchtool/Search.do?query=KLF7&submit=Quick%0D%4957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF7	rs3214417	0.439696	0	0	1	0	0	UTR3	UTR3	UTR3	KLF7(NM_003709:c.*1463_*1462delinsG,NM_001270944:c.*1463_*1462delinsG,NM_001270943:c.*1463_*1462delinsG,NM_001270942:c.*1477_*1476delinsG)	KLF7(uc010zix.2:c.*1463_*1462delinsG,uc002vbz.2:c.*1463_*1462delinsG,uc031rqz.1:c.*1463_*1462delinsG,uc002vca.2:c.*1477_*1476delinsG,uc031rrb.1:c.*1463_*1462delinsG)	ENSG00000118263(ENST00000309446:c.*1463_*1462delinsG,ENST00000421199:c.*1463_*1462delinsG)	Na	Na	Na	Na	Na	Na	Het;-A	1735;66|90	Hom;-A	2402;2|103
N	N	-	2	208183685	208183685	C	A	snp	ncRNA_intronic	 	 	 	 	AC009226.1																		rs6435371	0.280551	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR1302-4(dist=49537),CREB1(dist=210931)	BC038530(dist=82896),CREB1(dist=210931)	ENSG00000223725	Na	Na	Na	Na	Na	Na	Het;C>A	372;21|20	Hom;C>A	1087;0|43
N	N	-	2	208973074	208973074	G	A	snp	ncRNA_exonic	 	 	 	 	CRYGEP																		rs34376060	0.452276	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PLEKHM3(dist=82790),LOC100507443(dist=10779)	PLEKHM3(dist=82790),LOC100507443(dist=10779)	ENSG00000229150	Na	Na	Na	Na	Na	Na	Het;G>A	58;14|6	Hom;G>A	252;0|11
N	N	-	2	208977135	208977135	A	G	snp	ncRNA_exonic	 	 	 	 	CRYGEP																		rs35960349	0.227636	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PLEKHM3(dist=86851),LOC100507443(dist=6718)	PLEKHM3(dist=86851),LOC100507443(dist=6718)	ENSG00000229150	Na	Na	Na	Na	Na	Na	Het;A>G	104;4|5	Hom;A>G	177;0|7
N	N	-	2	208977362	208977362	C	A	snp	upstream	 	 	 	 	CRYGEP																		rs34126491	0.267372	0	0	1	0	0	intergenic	intergenic	upstream	PLEKHM3(dist=87078),LOC100507443(dist=6491)	PLEKHM3(dist=87078),LOC100507443(dist=6491)	ENSG00000229150	Na	Na	Na	Na	Na	Na	Het;C>A	908;37|44	Hom;C>A	1930;0|73
N	N	-	2	208977402	208977402	A	G	snp	upstream	 	 	 	 	CRYGEP																		rs55999272	0.297923	0	0	1	0	0	intergenic	intergenic	upstream	PLEKHM3(dist=87118),LOC100507443(dist=6451)	PLEKHM3(dist=87118),LOC100507443(dist=6451)	ENSG00000229150	Na	Na	Na	Na	Na	Na	Het;A>G	1211;32|49	Hom;A>G	3254;0|75
N	N	-	2	208989037	208989037	A	G	snp	synonymous SNV	T51C	Y17Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	CRYGD	Crygd	ENSG00000118231	crystallin gamma D	chr2:208986331-208989225	Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]	familial cataract; smoking cessation; autosomal dominant coral-like cataract	Heterozygotes for a spontaneous mutation exhibit a dense nuclear cataract and mild microphthalmia by 2-months of age, followed by posterior capsular rupture into the posterior vitreous by 3-months. In homozygotes, the microphthalmia is more pronounced.		GO:0002088;lens development in camera-type eye;ISS|GO:0007601;visual perception;IEA|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0050896;response to stimulus;IEA|GO:0070306;lens fiber cell differentiation;ISS	GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;ISS	GO:0005212;structural constituent of eye lens;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRYGD	https://www.uniprot.org/uniprot/P07320	https://hpo.jax.org/app/browse/search?q=CRYGD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=123690	http://www.informatics.jax.org/searchtool/Search.do?query=CRYGD&submit=Quick%0D%4953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYGD	rs2242074	0.644768	0.5744	0.5969	1	0	0	exonic	exonic	exonic	CRYGD	CRYGD	ENSG00000118231	synonymous SNV	synonymous SNV	unknown	CRYGD:NM_006891:exon2:c.T51C:p.Y17Y,	CRYGD:uc021vvu.1:exon2:c.T51C:p.Y17Y,CRYGD:uc002vcn.4:exon2:c.T51C:p.Y17Y,	UNKNOWN	Het;A>G	296;13|15	Hom;A>G	1094;0|43
N	N	-	2	209166830	209166830	T	G	snp	intronic	 	 	 	 	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs10497897	0.0996406	0	0	1	0	0	intronic	intronic	intronic	PIKFYVE	PIKFYVE	ENSG00000115020	Na	Na	Na	Na	Na	Na	Het;T>G	143;5|5	Hom;T>G	268;0|7
N	N	-	2	209182480	209182480	A	G	snp	intronic	 	 	 	 	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs10174541	0.116014	0	0	1	0	0	intronic	intronic	intronic	PIKFYVE	PIKFYVE	ENSG00000115020	Na	Na	Na	Na	Na	Na	Het;A>G	108;5|4	Hom;A>G	396;0|10
N	N	-	2	209182499	209182499	T	TA	indel	intronic	 	 	 	 	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs113250005	0.116414	0	0	1	0	0	intronic	intronic	intronic	PIKFYVE	PIKFYVE	ENSG00000115020	Na	Na	Na	Na	Na	Na	Het;+A	154;10|9	Hom;+A	332;1|14
N	N	-	2	209182548	209182548	A	G	snp	intronic	 	 	 	 	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs10497898	0.0998403	0.1414	0.1203	1	0	0	intronic	intronic	intronic	PIKFYVE	PIKFYVE	ENSG00000115020	Na	Na	Na	Na	Na	Na	Het;A>G	708;43|35	Hom;A>G	1733;0|64
N	N	-	2	209182677	209182690	CAGTTCAGCAGTGA	C	indel	intronic	 	 	 	 	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs112715599	0.115216	0.1487	0.1240	1	0	0	intronic	intronic	intronic	PIKFYVE	PIKFYVE	ENSG00000115020	Na	Na	Na	Na	Na	Na	Het;-AGTTCAGCAGTGA	1101;42|31	Hom;-AGTTCAGCAGTGA	1879;2|70
N	N	-	2	209190632	209190632	T	G	snp	nonsynonymous SNV	T3097G	S1033A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs999890	0.0990415	0.1412	0.1205	0.23	3	13	exonic	exonic	exonic	PIKFYVE	PIKFYVE	ENSG00000115020	nonsynonymous SNV	nonsynonymous SNV	unknown	PIKFYVE:NM_015040:exon20:c.T3097G:p.S1033A,	PIKFYVE:uc010fun.1:exon19:c.T2140G:p.S714A,PIKFYVE:uc002vcy.1:exon19:c.T2929G:p.S977A,PIKFYVE:uc002vcz.3:exon20:c.T3097G:p.S1033A,	UNKNOWN	Het;T>G	877;54|42	Hom;T>G	1738;0|62
N	N	-	2	209190649	209190649	A	G	snp	synonymous SNV	A2157G	R719R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs999891	0.0990415	0.1408	0.1205	1	0	0	exonic	exonic	exonic	PIKFYVE	PIKFYVE	ENSG00000115020	synonymous SNV	synonymous SNV	unknown	PIKFYVE:NM_015040:exon20:c.A3114G:p.R1038R,	PIKFYVE:uc010fun.1:exon19:c.A2157G:p.R719R,PIKFYVE:uc002vcy.1:exon19:c.A2946G:p.R982R,PIKFYVE:uc002vcz.3:exon20:c.A3114G:p.R1038R,	UNKNOWN	Het;A>G	874;48|41	Hom;A>G	1555;0|52
N	N	-	2	209195472	209195472	G	GT	indel	intronic	 	 	 	 	PIKFYVE	Pikfyve	ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing	chr2:209130991-209223475	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]	Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.	Synthesis of PIPs at the late endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP	GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE	https://www.uniprot.org/uniprot/Q9Y2I7	https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609414	http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE	rs34136239	0	0	0	1	0	0	intronic	intronic	intronic	PIKFYVE	PIKFYVE	ENSG00000115020	Na	Na	Na	Na	Na	Na	Het;+T	173;17|14	Hom;+T	794;2|37
N	N	-	2	209358027	209358027	C	T	snp	synonymous SNV	C1296T	N432N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PTH2R	Pth2r	ENSG00000144407	parathyroid hormone 2 receptor	chr2:209224438-209719227	The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Hip; Stroke; Fractures, Bone|Osteoporosis; Bone Density	Homozygous KO reduces core body temperature in pregnant and lactating females and affects locomotor and grooming behavior of lactating females.	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004991;parathyroid hormone receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTH2R	https://www.uniprot.org/uniprot/P49190		https://www.ncbi.nlm.nih.gov/omim/?term=601469	http://www.informatics.jax.org/searchtool/Search.do?query=PTH2R&submit=Quick%0D%8604ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH2R	rs3820900	0.741014	0.8092	0.7786	1	0	0	exonic	exonic	exonic	PTH2R	PTH2R	ENSG00000144407	synonymous SNV	synonymous SNV	unknown	PTH2R:NM_005048:exon13:c.C1296T:p.N432N,	PTH2R:uc002vdb.4:exon13:c.C1296T:p.N432N,PTH2R:uc010zjb.2:exon13:c.C1329T:p.N443N,	UNKNOWN	Het;C>T	667;14|30	Hom;C>T	1169;2|45
N	N	-	2	209684247	209684247	G	A	snp	intronic	 	 	 	 	PTH2R	Pth2r	ENSG00000144407	parathyroid hormone 2 receptor	chr2:209224438-209719227	The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Hip; Stroke; Fractures, Bone|Osteoporosis; Bone Density	Homozygous KO reduces core body temperature in pregnant and lactating females and affects locomotor and grooming behavior of lactating females.	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004991;parathyroid hormone receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTH2R	https://www.uniprot.org/uniprot/P49190		https://www.ncbi.nlm.nih.gov/omim/?term=601469	http://www.informatics.jax.org/searchtool/Search.do?query=PTH2R&submit=Quick%0D%8604ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH2R	rs7602514	0.656949	0	0	1	0	0	intergenic	intergenic	intronic	PTH2R(dist=325016),MAP2(dist=604524)	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000144407	Na	Na	Na	Na	Na	Na	Het;G>A	508;13|25	Hom;G>A	603;0|24
N	N	-	2	209740259	209740259	G	C	snp	intergenic	 	 	 	 	NONE																		rs4566309	0.155751	0	0	1	0	0	intergenic	intergenic	intergenic	PTH2R(dist=381028),MAP2(dist=548512)	NONE(dist=NONE),MAP2(dist=548512)	NONE(dist=NONE),ENSG00000202164(dist=45012)	Na	Na	Na	Na	Na	Na	Het;G>C	240;12|14	Hom;G>C	870;0|35
N	N	-	2	210340417	210340417	G	A	snp	intronic	 	 	 	 	MAP2	Map2	ENSG00000078018	microtubule associated protein 2	chr2:210288782-210598842	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]	Type 2 Diabetes| edema | rosiglitazone; Heart Rate; Platelet Aggregation; Insulin; Macular Degeneration; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit altered contextual memory. Mice homozygous for another knock-out allele display decreased body weight, altered microtubule density and organization in Purkinje cell dendrites, and reduced dendritic length inhippocampal neurons.		GO:0000226;microtubule cytoskeleton organization;IBA|GO:0001578;microtubule bundle formation;IEA|GO:0007409;axonogenesis;IEA|GO:0016358;dendrite development;IEA|GO:0021954;central nervous system neuron development;IEP|GO:0030010;establishment of cell polarity;IEA|GO:0031175;neuron projection development;IEP|GO:0048813;dendrite morphogenesis;IEP|GO:0050770;regulation of axonogenesis;IEA|GO:0071310;cellular response to organic substance;IEA	GO:0005622;intracellular;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS|GO:0014069;postsynaptic density;IEA|GO:0030425;dendrite;IEA|GO:0034399;nuclear periphery;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0044297;cell body;IEA|GO:0097442;CA3 pyramidal cell dendrite;IEA	GO:0002162;dystroglycan binding;IPI|GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IBA|GO:0015631;tubulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP2	https://www.uniprot.org/uniprot/P11137		https://www.ncbi.nlm.nih.gov/omim/?term=157130	http://www.informatics.jax.org/searchtool/Search.do?query=MAP2&submit=Quick%0D%1641ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2	rs7568354	0.739417	0	0	1	0	0	intronic	intronic	intronic	MAP2	MAP2	ENSG00000078018	Na	Na	Na	Na	Na	Na	Het;G>A	230;12|11	Hom;G>A	1353;2|51
N	N	-	2	210874246	210874246	T	C	snp	intronic	 	 	 	 	RPE	Rpe	ENSG00000197713	ribulose-5-phosphate-3-epimerase	chr2:210867289-210886300			 	Pentose phosphate pathway (hexose monophosphate shunt)	GO:0005975;carbohydrate metabolic process;IDA|GO:0006098;pentose-phosphate shunt;TAS|GO:0008152;metabolic process;IEA|GO:0009052;pentose-phosphate shunt, non-oxidative branch;IBA|GO:0019323;pentose catabolic process;IBA|GO:0044262;cellular carbohydrate metabolic process;IBA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004750;ribulose-phosphate 3-epimerase activity;EXP|GO:0016853;isomerase activity;IEA|GO:0016857;racemase and epimerase activity, acting on carbohydrates and derivatives;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPE			https://www.ncbi.nlm.nih.gov/omim/?term=180480	http://www.informatics.jax.org/searchtool/Search.do?query=RPE&submit=Quick%0D%16696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPE	rs3738934	0.222244	0	0	1	0	0	intronic	intronic	intronic	RPE	RPE	ENSG00000197713	Na	Na	Na	Na	Na	Na	Het;T>C	223;2|7	Hom;T>C	374;0|10
N	N	-	2	210880893	210880893	C	T	snp	intronic	 	 	 	 	RPE	Rpe	ENSG00000197713	ribulose-5-phosphate-3-epimerase	chr2:210867289-210886300			 	Pentose phosphate pathway (hexose monophosphate shunt)	GO:0005975;carbohydrate metabolic process;IDA|GO:0006098;pentose-phosphate shunt;TAS|GO:0008152;metabolic process;IEA|GO:0009052;pentose-phosphate shunt, non-oxidative branch;IBA|GO:0019323;pentose catabolic process;IBA|GO:0044262;cellular carbohydrate metabolic process;IBA	GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004750;ribulose-phosphate 3-epimerase activity;EXP|GO:0016853;isomerase activity;IEA|GO:0016857;racemase and epimerase activity, acting on carbohydrates and derivatives;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPE			https://www.ncbi.nlm.nih.gov/omim/?term=180480	http://www.informatics.jax.org/searchtool/Search.do?query=RPE&submit=Quick%0D%16696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPE	rs7570090	0.40655	0.4310	0.4336	1	0	0	intronic	intronic	intronic	RPE	RPE	ENSG00000197713	Na	Na	Na	Na	Na	Na	Het;C>T	1761;161|92	Hom;C>T	4904;0|182
N	N	-	2	210889759	210889759	A	G	snp	intronic	 	 	 	 	KANSL1L	Kansl1l	ENSG00000144445	KAT8 regulatory NSL complex subunit 1 like	chr2:210886147-211036107			 			GO:0000123;histone acetyltransferase complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KANSL1L	https://www.uniprot.org/uniprot/A0AUZ9		https://www.ncbi.nlm.nih.gov/omim/?term=613833	http://www.informatics.jax.org/searchtool/Search.do?query=KANSL1L&submit=Quick%0D%8607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KANSL1L	rs6435550	0.418331	0	0	1	0	0	intronic	intronic	intronic	KANSL1L	KANSL1L	ENSG00000144445	Na	Na	Na	Na	Na	Na	Het;A>G	239;4|10	Hom;A>G	903;0|28
N	N	-	2	211060050	211060050	T	G	snp	nonsynonymous SNV	A997C	K333Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ACADL	Acadl	ENSG00000115361	acyl-CoA dehydrogenase, long chain	chr2:211052663-211090215	The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]	Nonalcoholic Fatty Liver Disease; serum metabolites; plasma HDL cholesterol (HDL-C) levels; normal variation; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size.	Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA	GO:0001659;temperature homeostasis;ISS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0008152;metabolic process;IEA|GO:0019254;carnitine metabolic process, CoA-linked;ISS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IEA|GO:0042413;carnitine catabolic process;ISS|GO:0042758;long-chain fatty acid catabolic process;IEA|GO:0044242;cellular lipid catabolic process;ISS|GO:0045717;negative regulation of fatty acid biosynthetic process;ISS|GO:0046322;negative regulation of fatty acid oxidation;ISS|GO:0051289;protein homotetramerization;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0090181;regulation of cholesterol metabolic process;ISS	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0031966;mitochondrial membrane;IEA	GO:0000062;fatty-acyl-CoA binding;IEA|GO:0003995;acyl-CoA dehydrogenase activity;TAS|GO:0004466;long-chain-acyl-CoA dehydrogenase activity;TAS|GO:0016401;palmitoyl-CoA oxidase activity;ISS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACADL	https://www.uniprot.org/uniprot/P28330	https://hpo.jax.org/app/browse/search?q=ACADL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609576	http://www.informatics.jax.org/searchtool/Search.do?query=ACADL&submit=Quick%0D%4591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACADL	rs2286963	0.211062	0.2766	0.3011	0.69	9	13	exonic	exonic	exonic	ACADL	ACADL	ENSG00000115361	nonsynonymous SNV	nonsynonymous SNV	unknown	ACADL:NM_001608:exon9:c.A997C:p.K333Q,	ACADL:uc002vdz.4:exon9:c.A997C:p.K333Q,	UNKNOWN	Het;T>G	1139;50|50	Hom;T>G	2154;1|79
N	N	-	2	211074909	211074909	T	C	snp	ncRNA_intronic	 	 	 	 	ENSG00000231294																		rs3764913	0.211661	0.2773	0.3018	1	0	0	intronic	intronic	ncRNA_intronic	ACADL	ACADL	ENSG00000231294	Na	Na	Na	Na	Na	Na	Het;T>C	672;30|30	Hom;T>C	1929;0|72
N	N	-	2	211163063	211163065	TAC	T	indel	intronic	 	 	 	 	MYL1	Myl1	ENSG00000168530	myosin light chain 1	chr2:211154874-211179914	Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]	Body Height	Homozygotes for a targeted null mutation exhibit developmental delay, fail to form mesoderm, and die by embryonic day 8.5.	Striated Muscle Contraction	GO:0006936;muscle contraction;IDA|GO:0030049;muscle filament sliding;TAS|GO:0060048;cardiac muscle contraction;IEA	GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;NAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IDA|GO:0030017;sarcomere;NAS|GO:0043292;contractile fiber;IEA	GO:0005509;calcium ion binding;IEA|GO:0008307;structural constituent of muscle;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MYL1			https://www.ncbi.nlm.nih.gov/omim/?term=160780	http://www.informatics.jax.org/searchtool/Search.do?query=MYL1&submit=Quick%0D%12294ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYL1	rs796844841	0	0	0	1	0	0	intronic	intronic	intronic	MYL1	MYL1	ENSG00000168530	Na	Na	Na	Na	Na	Na	Het;-AC	220;6|11	Hom;-AC	217;0|8
N	N	-	2	211239622	211239622	C	T	snp	ncRNA_intronic	 	 	 	 	LANCL1-AS1																		rs62202079	0.319489	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LANCL1-AS1	MYL1(dist=59727),LANCL1(dist=56351)	ENSG00000234281	Na	Na	Na	Na	Na	Na	Het;C>T	364;42|21	Hom;C>T	1484;0|55
N	N	-	2	211334647	211334647	G	A	snp	ncRNA_exonic	 	 	 	 	LANCL1-AS1																		rs3856341	0.89377	0	0	1	0	0	ncRNA_exonic	intronic	intronic	LANCL1-AS1	LANCL1	ENSG00000115365	Na	Na	Na	Na	Na	Na	Het;G>A	1089;62|48	Hom;G>A	3081;0|106
N	N	-	2	211533070	211533070	A	G	snp	intronic	 	 	 	 	CPS1	Cps1	ENSG00000021826	carbamoyl-phosphate synthase 1	chr2:211342406-211543831	The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]	Acquired Immunodeficiency Syndrome|Disease Progression; Homocysteine; Tobacco Use Disorder; Creatinine; necrotizing enterocolitis; fibrinogen; Fibrinogen; Homocysteine levels ; Epilepsy|Hyperammonemia; vascular disease; pulmonary hypertension; Schizophrenia; homocysteine; Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.	Urea cycle	GO:0000050;urea cycle;TAS|GO:0001889;liver development;IEA|GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006508;proteolysis;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0014075;response to amine;IEA|GO:0019240;citrulline biosynthetic process;NAS|GO:0019433;triglyceride catabolic process;IMP|GO:0032094;response to food;IEA|GO:0032496;response to lipopolysaccharide;IDA|GO:0033762;response to glucagon;IEA|GO:0034201;response to oleic acid;IEA|GO:0042311;vasodilation;IMP|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043200;response to amino acid;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0046209;nitric oxide metabolic process;IMP|GO:0048545;response to steroid hormone;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA|GO:0055081;anion homeostasis;IEA|GO:0060416;response to growth hormone;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0070409;carbamoyl phosphate biosynthetic process;IMP|GO:0071320;cellular response to cAMP;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071400;cellular response to oleic acid;IEA|GO:0071548;response to dexamethasone;IEA|GO:1903718;cellular response to ammonia;IMP|GO:0000050;urea cycle;TAS|GO:0001889;liver development;IEA|GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006508;proteolysis;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0014075;response to amine;IEA|GO:0019240;citrulline biosynthetic process;NAS|GO:0019433;triglyceride catabolic process;IMP|GO:0032094;response to food;IEA|GO:0032496;response to lipopolysaccharide;IDA|GO:0033762;response to glucagon;IEA|GO:0034201;response to oleic acid;IEA|GO:0042311;vasodilation;IMP|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043200;response to amino acid;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0046209;nitric oxide metabolic process;IMP|GO:0048545;response to steroid hormone;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA|GO:0055081;anion homeostasis;IEA|GO:0060416;response to growth hormone;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0070409;carbamoyl phosphate biosynthetic process;IMP|GO:0071320;cellular response to cAMP;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071400;cellular response to oleic acid;IEA|GO:0071548;response to dexamethasone;IEA|GO:1903718;cellular response to ammonia;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0042645;mitochondrial nucleoid;IDA|GO:0043234;protein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004087;carbamoyl-phosphate synthase (ammonia) activity;IMP|GO:0004088;carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity;IEA|GO:0004175;endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016874;ligase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0046872;metal ion binding;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPS1	https://www.uniprot.org/uniprot/P31327	https://hpo.jax.org/app/browse/search?q=CPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608307	http://www.informatics.jax.org/searchtool/Search.do?query=CPS1&submit=Quick%0D%63ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPS1	rs10932347	0.951278	0	0	1	0	0	intronic	intronic	intronic	CPS1	CPS1	ENSG00000021826	Na	Na	Na	Na	Na	Na	Het;A>G	127;13|7	Hom;A>G	150;0|6
N	N	-	2	213659910	213659910	A	G	snp	ncRNA_intronic	 	 	 	 	AC093865.1																		rs12996397	0.403554	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ERBB4(dist=256558),MIR4776-2(dist=131071)	ERBB4(dist=256558),MIR4776-1(dist=131071)	ENSG00000273118	Na	Na	Na	Na	Na	Na	Het;A>G	152;5|5	Hom;A>G	713;0|18
N	N	-	2	213681716	213681716	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01878																		rs13015944	0.467252	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ERBB4(dist=278364),MIR4776-2(dist=109265)	ERBB4(dist=278364),MIR4776-1(dist=109265)	ENSG00000234308	Na	Na	Na	Na	Na	Na	Het;T>C	833;30|42	Hom;T>C	2497;0|94
N	N	-	2	213733958	213733958	G	T	snp	ncRNA_intronic	 	 	 	 	AC093865.1																		rs13035592	0.724241	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ERBB4(dist=330606),MIR4776-2(dist=57023)	ERBB4(dist=330606),MIR4776-1(dist=57023)	ENSG00000273118	Na	Na	Na	Na	Na	Na	Het;G>T	321;14|18	Hom;G>T	769;0|32
N	N	-	2	215590505	215590510	TAAGAC	T	indel	UTR3	*2895_*2890delinsA	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs71041956	0.178914	0	0	1	0	0	UTR3	intergenic	UTR3	BARD1(NM_000465:c.*2895_*2890delinsA,NM_001282543:c.*2895_*2890delinsA,NM_001282549:c.*2895_*2890delinsA,NM_001282548:c.*2895_*2890delinsA,NM_001282545:c.*2895_*2890delinsA)	VWC2L(dist=149852),BARD1(dist=2765)	ENSG00000138376(ENST00000260947:c.*2895_*2890delinsA)	Na	Na	Na	Na	Na	Na	Het;-AAGAC	1786;71|50	Hom;-AAGAC	4525;0|103
N	N	-	2	215590609	215590609	G	C	snp	UTR3	*2791C>G	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs1048171	0.395966	0	0	1	0	0	UTR3	intergenic	UTR3	BARD1(NM_000465:c.*2791C>G,NM_001282543:c.*2791C>G,NM_001282549:c.*2791C>G,NM_001282548:c.*2791C>G,NM_001282545:c.*2791C>G)	VWC2L(dist=149956),BARD1(dist=2666)	ENSG00000138376(ENST00000260947:c.*2791C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	963;68|45	Hom;G>C	3815;0|138
N	N	-	2	215607856	215607856	T	A	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs1446366	0.523562	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;T>A	252;4|13	Hom;T>A	452;0|16
N	N	-	2	215607896	215607896	A	G	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs1838802	0.523562	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;A>G	123;4|6	Hom;A>G	493;0|14
N	N	-	2	215607978	215607978	T	A	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs1446367	0.523562	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;T>A	218;6|8	Hom;T>A	637;0|19
N	N	-	2	215614228	215614228	C	G	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs2888294	0.520767	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;C>G	235;19|14	Hom;C>G	622;0|24
N	N	-	2	215619658	215619658	T	C	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs34136362	0.520567	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;T>C	114;18|8	Hom;T>C	598;0|23
N	N	-	2	215637505	215637505	G	A	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs3768713	0.190096	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;G>A	504;47|28	Hom;G>A	1911;0|75
N	N	-	2	215643500	215643500	C	T	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs17487792	0.150958	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;C>T	379;28|17	Hom;C>T	1046;0|38
N	N	-	2	215645545	215645545	C	G	snp	synonymous SNV	G996C	T332T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs2070096	0.190296	0.2034	0.2051	1	0	0	exonic	exonic	exonic	BARD1	BARD1	ENSG00000138376	synonymous SNV	synonymous SNV	unknown	BARD1:NM_000465:exon4:c.G1053C:p.T351T,BARD1:NM_001282543:exon3:c.G996C:p.T332T,	BARD1:uc021vwe.1:exon3:c.G996C:p.T332T,BARD1:uc010zjm.1:exon3:c.G621C:p.T207T,BARD1:uc002veu.2:exon4:c.G1053C:p.T351T,BARD1:uc021vwf.1:exon2:c.G762C:p.T254T,	UNKNOWN	Het;C>G	1113;71|55	Hom;C>G	4545;2|163
N	N	-	2	215651750	215651750	G	A	snp	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs17488049	0.151957	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;G>A	111;17|7	Hom;G>A	1009;2|42
N	N	-	2	215652910	215652910	A	AT	indel	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs3835755	0.349241	0	0	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;+T	372;33|22	Hom;+T	1118;7|50
N	N	-	2	215657182	215657183	TA	T	indel	intronic	 	 	 	 	BARD1	Bard1	ENSG00000138376	BRCA1 associated RING domain 1	chr2:215590370-215674428	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]	lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms	Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage.  The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.	G2/M DNA damage checkpoint	GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BARD1	https://www.uniprot.org/uniprot/Q99728	https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601593	http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1	rs548692193	0.444888	0	0.4384	1	0	0	intronic	intronic	intronic	BARD1	BARD1	ENSG00000138376	Na	Na	Na	Na	Na	Na	Het;-A	329;23|27	Hom;-A	967;6|54
N	N	-	2	216212279	216212279	G	C	snp	intronic	 	 	 	 	ATIC	Atic	ENSG00000138363	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	chr2:216176540-216214487	This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; colorectal cancer; Spinal Dysraphism; Arthritis, Rheumatoid; rheumatoid arthritis; Drug-Induced Liver Injury|Gastrointestinal Diseases|Psoriasis; Acquired Immunodeficiency Syndrome|Disease Progression; folate, erythrocyte homocysteine thromboembolism, venous; Cleft Lip|Cleft Palate; methotrexate efficacy; methotrexate toxicity	 	Purine ribonucleoside monophosphate biosynthesis	GO:0003360;brainstem development;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0009116;nucleoside metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0009259;ribonucleotide metabolic process;IEA|GO:0010035;response to inorganic substance;IEA|GO:0021549;cerebellum development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0031100;animal organ regeneration;IEA|GO:0046452;dihydrofolate metabolic process;IEA|GO:0046654;tetrahydrofolate biosynthetic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003937;IMP cyclohydrolase activity;TAS|GO:0004643;phosphoribosylaminoimidazolecarboxamide formyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATIC	https://www.uniprot.org/uniprot/P31939	https://hpo.jax.org/app/browse/search?q=ATIC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601731	http://www.informatics.jax.org/searchtool/Search.do?query=ATIC&submit=Quick%0D%7712ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATIC	rs4673992	0.946086	0	0	1	0	0	intronic	intronic	intronic	ATIC	ATIC	ENSG00000138363	Na	Na	Na	Na	Na	Na	Het;G>C	247;6|12	Hom;G>C	500;0|18
N	N	-	2	217012901	217012901	A	G	snp	synonymous SNV	A1572G	T524T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	XRCC5	Xrcc5	ENSG00000079246	X-ray repair cross complementing 5	chr2:216972187-217071026	The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events.  This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Carcinoma, Squamous Cell|Deglutition Disorders|Head and Neck Neoplasms|Radiodermatitis; lung cancer ; breast cancer; Tobacco Use Disorder; epithelial ovarian cancer ; Multiple Myeloma; multiple sclerosis; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; cancer; brain cancer; null; Coronary Disease; Mouth Neoplasms|Precancerous Conditions; Leukemia, Myeloid|Myeloid Leukemia; meningioma; endometrial cancer; cervical cancer; radiosensitivity, clinical; Colorectal Neoplasms; Chronic Obstructive Pulmonary Disease; Alcoholism; esophageal cancer gastric cardiac adenocarcinoma; colorectal cancer; lung cancer; cytogenetic studies; Leukemia, Lymphocytic, Chronic, B-Cell; thyroid neoplasm|Thyroid Neoplasms; head and neck cancer; Brain Neoplasms|Glioma; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; esophageal adenocarcinoma	Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities.	Neutrophil degranulation	GO:0000723;telomere maintenance;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006310;DNA recombination;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;IEA|GO:0032204;regulation of telomere maintenance;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0042493;response to drug;IEA|GO:0043085;positive regulation of catalytic activity;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0048660;regulation of smooth muscle cell proliferation;IMP|GO:0050769;positive regulation of neurogenesis;IEA|GO:0051973;positive regulation of telomerase activity;TAS|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070198;protein localization to chromosome, telomeric region;TAS|GO:0071398;cellular response to fatty acid;IEA|GO:0071475;cellular hyperosmotic salinity response;IEA|GO:0071480;cellular response to gamma radiation;IDA|GO:0071481;cellular response to X-ray;IEA|GO:0075713;establishment of integrated proviral latency;TAS|GO:1904430;negative regulation of t-circle formation;IMP	GO:0000783;nuclear telomere cap complex;TAS|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0032993;protein-DNA complex;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043234;protein complex;IDA|GO:0043564;Ku70:Ku80 complex;IDA|GO:0070419;nonhomologous end joining complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;TAS|GO:0003691;double-stranded telomeric DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008047;enzyme activator activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016817;hydrolase activity, acting on acid anhydrides;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0044877;macromolecular complex binding;IPI|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/XRCC5	https://www.uniprot.org/uniprot/P13010		https://www.ncbi.nlm.nih.gov/omim/?term=194364	http://www.informatics.jax.org/searchtool/Search.do?query=XRCC5&submit=Quick%0D%1690ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XRCC5	rs207906	0.882788	0.8732	0.8710	1	0	0	exonic	exonic	exonic	XRCC5	XRCC5	ENSG00000079246	synonymous SNV	synonymous SNV	unknown	XRCC5:NM_021141:exon14:c.A1572G:p.T524T,	XRCC5:uc002vfy.3:exon14:c.A1572G:p.T524T,XRCC5:uc002vfz.3:exon11:c.A1230G:p.T410T,	UNKNOWN	Het;A>G	811;22|36	Hom;A>G	1657;0|62
N	N	-	2	217281150	217281151	AC	A	indel	intronic	 	 	 	 	SMARCAL1	Smarcal1	ENSG00000138375	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	chr2:217277137-217347776	The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for a null allele display reduced B cell counts and increased susceptibility to heat induced mortality. Treatment of homozygous null mice with alpha-amanitin results in phenotypes similar to Schimke Type Immunoosseous Dysplasia.		GO:0000733;DNA strand renaturation;IEA|GO:0006259;DNA metabolic process;IMP|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0031297;replication fork processing;TAS|GO:0090656;t-circle formation;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0035861;site of double-strand break;IDA	GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0036310;annealing helicase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMARCAL1	https://www.uniprot.org/uniprot/Q9NZC9	https://hpo.jax.org/app/browse/search?q=SMARCAL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606622	http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAL1&submit=Quick%0D%7713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAL1	rs3214962	0.760783	0	0	1	0	0	intronic	intronic	intronic	SMARCAL1	SMARCAL1	ENSG00000138375	Na	Na	Na	Na	Na	Na	Het;-C	138;6|7	Hom;-C	146;0|6
N	N	-	2	217454667	217454667	G	A	snp	downstream	 	 	 	 	LINC01280																		rs13018269	0.151558	0	0	1	0	0	downstream	intergenic	downstream	LINC01280	RPL37A(dist=88479),IGFBP2(dist=43460)	ENSG00000224391	Na	Na	Na	Na	Na	Na	Het;G>A	264;8|12	Hom;G>A	655;0|22
N	N	-	2	217463707	217463707	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01280																		rs10804249	0.265575	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01280	RPL37A(dist=97519),IGFBP2(dist=34420)	ENSG00000224391	Na	Na	Na	Na	Na	Na	Het;A>G	1616;94|74	Hom;A>G	4558;5|174
N	N	-	2	219082330	219082330	A	G	snp	intronic	 	 	 	 	ARPC2	Arpc2	ENSG00000163466	actin related protein 2/3 complex subunit 2	chr2:219081817-219119079	This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Colitis, Ulcerative|; ulcerative colitis	 	Clathrin-mediated endocytosis	GO:0006928;movement of cell or subcellular component;TAS|GO:0010592;positive regulation of lamellipodium assembly;IMP|GO:0030041;actin filament polymerization;IEA|GO:0030833;regulation of actin filament polymerization;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0061024;membrane organization;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;TAS|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030054;cell junction;IEA|GO:0031252;cell leading edge;IEA|GO:0036195;muscle cell projection membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARPC2			https://www.ncbi.nlm.nih.gov/omim/?term=604224	http://www.informatics.jax.org/searchtool/Search.do?query=ARPC2&submit=Quick%0D%10972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARPC2	rs12694432	0.421725	0	0	1	0	0	intronic	intronic	intronic	ARPC2	ARPC2	ENSG00000163466	Na	Na	Na	Na	Na	Na	Het;A>G	85;3|5	Hom;A>G	219;0|10
N	N	-	2	219103580	219103580	A	G	snp	intronic	 	 	 	 	ARPC2	Arpc2	ENSG00000163466	actin related protein 2/3 complex subunit 2	chr2:219081817-219119079	This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Colitis, Ulcerative|; ulcerative colitis	 	Clathrin-mediated endocytosis	GO:0006928;movement of cell or subcellular component;TAS|GO:0010592;positive regulation of lamellipodium assembly;IMP|GO:0030041;actin filament polymerization;IEA|GO:0030833;regulation of actin filament polymerization;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0061024;membrane organization;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;TAS|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030054;cell junction;IEA|GO:0031252;cell leading edge;IEA|GO:0036195;muscle cell projection membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARPC2			https://www.ncbi.nlm.nih.gov/omim/?term=604224	http://www.informatics.jax.org/searchtool/Search.do?query=ARPC2&submit=Quick%0D%10972ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARPC2	rs10169718	0.426717	0.3830	0.4969	1	0	0	intronic	intronic	intronic	ARPC2	ARPC2	ENSG00000163466	Na	Na	Na	Na	Na	Na	Het;A>G	658;39|32	Hom;A>G	1920;0|71
N	N	-	2	219138940	219138940	C	T	snp	UTR3	*1258G>A	 	 	 	TMBIM1	Tmbim1	ENSG00000135926	transmembrane BAX inhibitor motif containing 1	chr2:219138915-219157309			Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age.	Neutrophil degranulation	GO:0043086;negative regulation of catalytic activity;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0090005;negative regulation of establishment of protein localization to plasma membrane;IMP|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902045;negative regulation of Fas signaling pathway;IMP|GO:2000504;positive regulation of blood vessel remodeling;ISS	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM1	https://www.uniprot.org/uniprot/Q969X1		https://www.ncbi.nlm.nih.gov/omim/?term=610364	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM1&submit=Quick%0D%7249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM1	rs4791	0.451278	0	0	1	0	0	UTR3	UTR3	UTR3	TMBIM1(NM_022152:c.*1258G>A)	TMBIM1(uc002vho.1:c.*1258G>A,uc002vhp.1:c.*1258G>A,uc010zjz.1:c.*1258G>A)	ENSG00000135926(ENST00000258412:c.*1258G>A,ENST00000396809:c.*1258G>A,ENST00000444881:c.*1258G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	187;20|10	Hom;C>T	656;0|23
N	N	-	2	219142492	219142492	G	A	snp	intronic	 	 	 	 	PNKD	Pnkd	ENSG00000127838	paroxysmal nonkinesigenic dyskinesia	chr2:219135115-219211516	This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol.		GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA|GO:0032225;regulation of synaptic transmission, dopaminergic;IEA|GO:0042053;regulation of dopamine metabolic process;IEA|GO:0046929;negative regulation of neurotransmitter secretion;IMP|GO:0050884;neuromuscular process controlling posture;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNKD	https://www.uniprot.org/uniprot/Q8N490	https://hpo.jax.org/app/browse/search?q=PNKD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609023	http://www.informatics.jax.org/searchtool/Search.do?query=PNKD&submit=Quick%0D%6072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNKD	rs2168704	0.476438	0	0	1	0	0	intronic	intronic	intronic	PNKD,TMBIM1	PNKD,TMBIM1	ENSG00000127838,ENSG00000135926	Na	Na	Na	Na	Na	Na	Het;G>A	343;11|14	Hom;G>A	499;0|18
N	N	-	2	219142773	219142773	C	T	snp	intronic	 	 	 	 	PNKD	Pnkd	ENSG00000127838	paroxysmal nonkinesigenic dyskinesia	chr2:219135115-219211516	This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol.		GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA|GO:0032225;regulation of synaptic transmission, dopaminergic;IEA|GO:0042053;regulation of dopamine metabolic process;IEA|GO:0046929;negative regulation of neurotransmitter secretion;IMP|GO:0050884;neuromuscular process controlling posture;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNKD	https://www.uniprot.org/uniprot/Q8N490	https://hpo.jax.org/app/browse/search?q=PNKD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609023	http://www.informatics.jax.org/searchtool/Search.do?query=PNKD&submit=Quick%0D%6072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNKD	rs6707559	0.630791	0.6078	0	1	0	0	intronic	intronic	intronic	PNKD,TMBIM1	PNKD,TMBIM1	ENSG00000127838,ENSG00000135926	Na	Na	Na	Na	Na	Na	Het;C>T	401;27|19	Hom;C>T	1285;0|47
N	N	-	2	219142860	219142860	C	A	snp	intronic	 	 	 	 	PNKD	Pnkd	ENSG00000127838	paroxysmal nonkinesigenic dyskinesia	chr2:219135115-219211516	This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol.		GO:0019243;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;IEA|GO:0032225;regulation of synaptic transmission, dopaminergic;IEA|GO:0042053;regulation of dopamine metabolic process;IEA|GO:0046929;negative regulation of neurotransmitter secretion;IMP|GO:0050884;neuromuscular process controlling posture;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA	GO:0004416;hydroxyacylglutathione hydrolase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNKD	https://www.uniprot.org/uniprot/Q8N490	https://hpo.jax.org/app/browse/search?q=PNKD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609023	http://www.informatics.jax.org/searchtool/Search.do?query=PNKD&submit=Quick%0D%6072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNKD	rs13429408	0.482428	0	0	1	0	0	intronic	intronic	intronic	PNKD,TMBIM1	PNKD,TMBIM1	ENSG00000127838,ENSG00000135926	Na	Na	Na	Na	Na	Na	Het;C>A	230;4|8	Hom;C>A	183;0|6
N	N	-	2	219146803	219146803	G	A	snp	nonsynonymous SNV	C62T	P21L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMBIM1	Tmbim1	ENSG00000135926	transmembrane BAX inhibitor motif containing 1	chr2:219138915-219157309			Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age.	Neutrophil degranulation	GO:0043086;negative regulation of catalytic activity;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0090005;negative regulation of establishment of protein localization to plasma membrane;IMP|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902045;negative regulation of Fas signaling pathway;IMP|GO:2000504;positive regulation of blood vessel remodeling;ISS	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM1	https://www.uniprot.org/uniprot/Q969X1		https://www.ncbi.nlm.nih.gov/omim/?term=610364	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM1&submit=Quick%0D%7249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM1	rs2292553	0.449481	0.4105	0.5587	0.23	3	13	exonic	exonic	exonic	TMBIM1	TMBIM1	ENSG00000135926	nonsynonymous SNV	nonsynonymous SNV	unknown	TMBIM1:NM_022152:exon2:c.C62T:p.P21L,	TMBIM1:uc002vhp.1:exon2:c.C62T:p.P21L,TMBIM1:uc002vho.1:exon3:c.C62T:p.P21L,	UNKNOWN	Het;G>A	755;36|40	Hom;G>A	1615;2|63
N	N	-	2	220100787	220100787	C	T	snp	nonsynonymous SNV	C2027T	P676L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ANKZF1	Ankzf1	ENSG00000163516	ankyrin repeat and zinc finger domain containing 1	chr2:220094479-220101391			 		GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0071630;ubiquitin-dependent catabolism of misfolded proteins by nucleus-associated proteasome;IBA|GO:0072671;mitochondria-associated ubiquitin-dependent protein catabolic process;IBA	GO:0016020;membrane;IDA|GO:0036266;Cdc48p-Npl4p-Vms1p AAA ATPase complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKZF1			https://www.ncbi.nlm.nih.gov/omim/?term=617541	http://www.informatics.jax.org/searchtool/Search.do?query=ANKZF1&submit=Quick%0D%10991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKZF1	rs2293079	0.076278	0.1019	0.1048	0.08	1	13	exonic	exonic	exonic	ANKZF1	ANKZF1	ENSG00000163516	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKZF1:NM_001042410:exon13:c.C2027T:p.P676L,ANKZF1:NM_001282792:exon10:c.C1397T:p.P466L,ANKZF1:NM_018089:exon13:c.C2027T:p.P676L,	ANKZF1:uc002vkh.3:exon10:c.C1397T:p.P466L,ANKZF1:uc002vki.3:exon13:c.C2027T:p.P676L,ANKZF1:uc002vkg.3:exon13:c.C2027T:p.P676L,	UNKNOWN	Het;C>T	1976;89|100	Hom;C>T	3394;0|127
N	N	-	2	220108423	220108423	C	T	snp	UTR5	-128G>A	 	 	 	GLB1L	Glb1l	ENSG00000163521	galactosidase beta 1 like	chr2:220101328-220110200			 	HS-GAG degradation	GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005773;vacuole;IBA	GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004565;beta-galactosidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLB1L				http://www.informatics.jax.org/searchtool/Search.do?query=GLB1L&submit=Quick%0D%10996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLB1L	rs35328001	0.172524	0	0	1	0	0	intronic	intronic	UTR5	GLB1L	GLB1L	ENSG00000163521(ENST00000428427:c.-128G>A,ENST00000432839:c.-128G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	163;4|6	Hom;C>T	261;0|8
N	N	-	2	220156146	220156146	G	A	snp	intronic	 	 	 	 	PTPRN	Ptprn	ENSG00000054356	protein tyrosine phosphatase, receptor type N	chr2:220154345-220174370	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]	diabetes, type 1	Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes.		GO:0000302;response to reactive oxygen species;IDA|GO:0001553;luteinization;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009749;response to glucose;IEA|GO:0016311;dephosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030073;insulin secretion;IGI|GO:0032868;response to insulin;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0043627;response to estrogen;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051591;response to cAMP;IEA|GO:1904692;positive regulation of type B pancreatic cell proliferation;IDA|GO:1990502;dense core granule maturation;IGI	GO:0005634;nucleus;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;ISS|GO:0045202;synapse;IEA	GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016791;phosphatase activity;IEA|GO:0030507;spectrin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRN	https://www.uniprot.org/uniprot/Q16849		https://www.ncbi.nlm.nih.gov/omim/?term=601773	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN&submit=Quick%0D%974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN	rs1983297	0.0748802	0.0858	0.0893	1	0	0	intronic	intronic	intronic	PTPRN	PTPRN	ENSG00000054356	Na	Na	Na	Na	Na	Na	Het;G>A	485;14|23	Hom;G>A	457;1|19
N	N	-	2	220162015	220162015	C	G	snp	synonymous SNV	G1941C	P647P	hydrophobic,neutral	hydrophobic,neutral	PTPRN	Ptprn	ENSG00000054356	protein tyrosine phosphatase, receptor type N	chr2:220154345-220174370	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]	diabetes, type 1	Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes.		GO:0000302;response to reactive oxygen species;IDA|GO:0001553;luteinization;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009749;response to glucose;IEA|GO:0016311;dephosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030073;insulin secretion;IGI|GO:0032868;response to insulin;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0043627;response to estrogen;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051591;response to cAMP;IEA|GO:1904692;positive regulation of type B pancreatic cell proliferation;IDA|GO:1990502;dense core granule maturation;IGI	GO:0005634;nucleus;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;ISS|GO:0045202;synapse;IEA	GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016791;phosphatase activity;IEA|GO:0030507;spectrin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRN	https://www.uniprot.org/uniprot/Q16849		https://www.ncbi.nlm.nih.gov/omim/?term=601773	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN&submit=Quick%0D%974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN	rs17847406	0.0638978	0.0787	0.0852	1	0	0	exonic	exonic	exonic	PTPRN	PTPRN	ENSG00000054356	synonymous SNV	synonymous SNV	unknown	PTPRN:NM_002846:exon14:c.G2028C:p.P676P,PTPRN:NM_001199763:exon13:c.G1941C:p.P647P,PTPRN:NM_001199764:exon14:c.G1758C:p.P586P,	PTPRN:uc002vla.3:exon13:c.G1941C:p.P647P,PTPRN:uc002vkz.3:exon14:c.G2028C:p.P676P,PTPRN:uc010zlc.2:exon14:c.G1758C:p.P586P,	UNKNOWN	Het;C>G	2498;102|111	Hom;C>G	4817;0|164
N	N	-	2	220162959	220162959	G	A	snp	intronic	 	 	 	 	PTPRN	Ptprn	ENSG00000054356	protein tyrosine phosphatase, receptor type N	chr2:220154345-220174370	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]	diabetes, type 1	Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes.		GO:0000302;response to reactive oxygen species;IDA|GO:0001553;luteinization;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009749;response to glucose;IEA|GO:0016311;dephosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030073;insulin secretion;IGI|GO:0032868;response to insulin;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0043627;response to estrogen;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051591;response to cAMP;IEA|GO:1904692;positive regulation of type B pancreatic cell proliferation;IDA|GO:1990502;dense core granule maturation;IGI	GO:0005634;nucleus;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;ISS|GO:0045202;synapse;IEA	GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016791;phosphatase activity;IEA|GO:0030507;spectrin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRN	https://www.uniprot.org/uniprot/Q16849		https://www.ncbi.nlm.nih.gov/omim/?term=601773	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN&submit=Quick%0D%974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN	rs12105638	0.0615016	0	0	1	0	0	intronic	intronic	intronic	PTPRN	PTPRN	ENSG00000054356	Na	Na	Na	Na	Na	Na	Het;G>A	234;4|9	Hom;G>A	126;0|4
N	N	-	2	220165763	220165763	T	C	snp	ncRNA_intronic	 	 	 	 	AC114803.1																		rs2292606	0.0696885	0.0830	0	1	0	0	intronic	intronic	ncRNA_intronic	PTPRN	PTPRN	ENSG00000230432	Na	Na	Na	Na	Na	Na	Het;T>C	244;11|12	Hom;T>C	756;0|28
N	N	-	2	220168616	220168616	C	T	snp	ncRNA_intronic	 	 	 	 	AC114803.1																		rs2271594	0.438498	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PTPRN	PTPRN	ENSG00000230432	Na	Na	Na	Na	Na	Na	Het;C>T	437;17|19	Hom;C>T	1368;0|47
N	N	-	2	220172576	220172576	A	C	snp	intronic	 	 	 	 	PTPRN	Ptprn	ENSG00000054356	protein tyrosine phosphatase, receptor type N	chr2:220154345-220174370	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]	diabetes, type 1	Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes.		GO:0000302;response to reactive oxygen species;IDA|GO:0001553;luteinization;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009749;response to glucose;IEA|GO:0016311;dephosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030073;insulin secretion;IGI|GO:0032868;response to insulin;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0043627;response to estrogen;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051591;response to cAMP;IEA|GO:1904692;positive regulation of type B pancreatic cell proliferation;IDA|GO:1990502;dense core granule maturation;IGI	GO:0005634;nucleus;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;ISS|GO:0045202;synapse;IEA	GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016791;phosphatase activity;IEA|GO:0030507;spectrin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRN	https://www.uniprot.org/uniprot/Q16849		https://www.ncbi.nlm.nih.gov/omim/?term=601773	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN&submit=Quick%0D%974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN	rs7591986	0.213658	0.2083	0.1460	1	0	0	intronic	intronic	intronic	PTPRN	PTPRN	ENSG00000054356	Na	Na	Na	Na	Na	Na	Het;A>C	381;28|20	Hom;A>C	873;1|34
N	N	-	2	220173905	220173905	C	T	snp	intronic	 	 	 	 	PTPRN	Ptprn	ENSG00000054356	protein tyrosine phosphatase, receptor type N	chr2:220154345-220174370	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]	diabetes, type 1	Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes.		GO:0000302;response to reactive oxygen species;IDA|GO:0001553;luteinization;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009749;response to glucose;IEA|GO:0016311;dephosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030073;insulin secretion;IGI|GO:0032868;response to insulin;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0043627;response to estrogen;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051591;response to cAMP;IEA|GO:1904692;positive regulation of type B pancreatic cell proliferation;IDA|GO:1990502;dense core granule maturation;IGI	GO:0005634;nucleus;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;ISS|GO:0045202;synapse;IEA	GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016791;phosphatase activity;IEA|GO:0030507;spectrin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051020;GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRN	https://www.uniprot.org/uniprot/Q16849		https://www.ncbi.nlm.nih.gov/omim/?term=601773	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN&submit=Quick%0D%974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN	rs57623838	0.138179	0.1163	0.1615	1	0	0	intronic	intronic	intronic	PTPRN	PTPRN	ENSG00000054356	Na	Na	Na	Na	Na	Na	Het;C>T	125;1|6	Hom;C>T	161;0|6
N	N	-	2	220195738	220195741	GTCT	G	indel	UTR5	-89_-92delinsC	 	 	 	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs34019246	0.0854633	0	0	1	0	0	intronic	UTR5	intronic	RESP18	RESP18(uc002vlb.3:c.-89_-92delinsC)	ENSG00000182698	Na	Na	Na	Na	Na	Na	Het;-TCT	290;3|8	Hom;-TCT	413;0|10
N	N	-	2	220197207	220197207	T	C	snp	intronic	 	 	 	 	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs2048737	0.469449	0.4289	0.4047	1	0	0	intronic	intronic	intronic	RESP18	RESP18	ENSG00000182698	Na	Na	Na	Na	Na	Na	Het;T>C	259;14|12	Hom;T>C	557;0|19
N	N	-	2	220197321	220197321	C	T	snp	nonsynonymous SNV	G157A	E53K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs2385405	0.463458	0.4314	0.4077	0.08	1	12	exonic	exonic	exonic	RESP18	RESP18	ENSG00000182698	nonsynonymous SNV	nonsynonymous SNV	unknown	RESP18:NM_001007089:exon2:c.G157A:p.E53K,	RESP18:uc002vlc.4:exon2:c.G157A:p.E53K,	UNKNOWN	Het;C>T	703;44|37	Hom;C>T	1322;0|50
N	N	-	2	220197388	220197388	C	A	snp	nonsynonymous SNV	G90T	E30D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs2385404	0.469649	0.4360	0.4146	0.30	3	10	exonic	exonic	exonic	RESP18	RESP18	ENSG00000182698	nonsynonymous SNV	nonsynonymous SNV	unknown	RESP18:NM_001007089:exon2:c.G90T:p.E30D,	RESP18:uc002vlc.4:exon2:c.G90T:p.E30D,	UNKNOWN	Het;C>A	648;32|33	Hom;C>A	1378;0|52
N	N	-	2	220197492	220197492	C	G	snp	intronic	 	 	 	 	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs2385402	0.469449	0	0.4269	1	0	0	intronic	intronic	intronic	RESP18	RESP18	ENSG00000182698	Na	Na	Na	Na	Na	Na	Het;C>G	277;8|11	Hom;C>G	628;0|20
N	N	-	2	220197672	220197672	A	G	snp	intronic	 	 	 	 	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs2385401	0.469649	0	0	1	0	0	intronic	intronic	intronic	RESP18	RESP18	ENSG00000182698	Na	Na	Na	Na	Na	Na	Het;A>G	107;6|4	Hom;A>G	178;0|5
N	N	-	2	220197730	220197730	G	C	snp	intronic	 	 	 	 	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs2385400	0.470248	0	0	1	0	0	intronic	intronic	intronic	RESP18	RESP18	ENSG00000182698	Na	Na	Na	Na	Na	Na	Het;G>C	565;8|17	Hom;G>C	372;0|10
N	N	-	2	220197821	220197823	CTA	C	indel	intronic	 	 	 	 	RESP18	Resp18	ENSG00000182698	regulated endocrine specific protein 18	chr2:220192131-220197899			Mice homozygous for a knock-out allele die prior to E9.5.		GO:0001701;in utero embryonic development;IEA	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RESP18			https://www.ncbi.nlm.nih.gov/omim/?term=612721	http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18	rs5838736	0.573283	0	0	1	0	0	intronic	intronic	intronic	RESP18	RESP18	ENSG00000182698	Na	Na	Na	Na	Na	Na	Het;-TA	3790;93|122	Hom;-TA	4640;7|137
N	N	-	2	220285309	220285309	C	T	snp	synonymous SNV	C828T	D276D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	DES	Des	ENSG00000175084	desmin	chr2:220283099-220291461	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]	Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Cardiomyopathy, Restrictive|DCM - Dilated cardiomyopathy|Hypertrophic Cardiomyopathy; cardiomyopathy; desmin-associated restrictive cardiomyopathy.; hypertrophic cardiomyopathy	Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium.	Striated Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0030049;muscle filament sliding;TAS|GO:0045109;intermediate filament organization;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0030018;Z disc;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043292;contractile fiber;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0097512;cardiac myofibril;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DES		https://hpo.jax.org/app/browse/search?q=DES&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125660	http://www.informatics.jax.org/searchtool/Search.do?query=DES&submit=Quick%0D%13631ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DES	rs1058261	0.33746	0.3845	0.3363	1	0	0	exonic	exonic	exonic	DES	DES	ENSG00000175084	synonymous SNV	synonymous SNV	unknown	DES:NM_001927:exon4:c.C828T:p.D276D,	DES:uc002vll.3:exon4:c.C828T:p.D276D,	UNKNOWN	Het;C>T	661;29|33	Hom;C>T	2984;1|117
N	N	-	2	220285666	220285666	G	C	snp	synonymous SNV	G1014C	L338L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DES	Des	ENSG00000175084	desmin	chr2:220283099-220291461	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]	Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Cardiomyopathy, Restrictive|DCM - Dilated cardiomyopathy|Hypertrophic Cardiomyopathy; cardiomyopathy; desmin-associated restrictive cardiomyopathy.; hypertrophic cardiomyopathy	Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium.	Striated Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0030049;muscle filament sliding;TAS|GO:0045109;intermediate filament organization;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0030018;Z disc;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043292;contractile fiber;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0097512;cardiac myofibril;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DES		https://hpo.jax.org/app/browse/search?q=DES&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125660	http://www.informatics.jax.org/searchtool/Search.do?query=DES&submit=Quick%0D%13631ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DES	rs12920	0.33766	0.3866	0.3414	1	0	0	exonic	exonic	exonic	DES	DES	ENSG00000175084	synonymous SNV	synonymous SNV	unknown	DES:NM_001927:exon5:c.G1014C:p.L338L,	DES:uc002vll.3:exon5:c.G1014C:p.L338L,	UNKNOWN	Het;G>C	1954;82|83	Hom;G>C	4645;3|175
N	N	-	2	220286142	220286142	G	A	snp	synonymous SNV	G1104A	A368A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DES	Des	ENSG00000175084	desmin	chr2:220283099-220291461	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]	Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Cardiomyopathy, Restrictive|DCM - Dilated cardiomyopathy|Hypertrophic Cardiomyopathy; cardiomyopathy; desmin-associated restrictive cardiomyopathy.; hypertrophic cardiomyopathy	Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium.	Striated Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0030049;muscle filament sliding;TAS|GO:0045109;intermediate filament organization;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0030018;Z disc;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043292;contractile fiber;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0097512;cardiac myofibril;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DES		https://hpo.jax.org/app/browse/search?q=DES&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125660	http://www.informatics.jax.org/searchtool/Search.do?query=DES&submit=Quick%0D%13631ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DES	rs1058284	0.333666	0.3844	0.3362	1	0	0	exonic	exonic	exonic	DES	DES	ENSG00000175084	synonymous SNV	synonymous SNV	unknown	DES:NM_001927:exon6:c.G1104A:p.A368A,	DES:uc002vll.3:exon6:c.G1104A:p.A368A,	UNKNOWN	Het;G>A	2328;113|115	Hom;G>A	4846;1|181
N	N	-	2	220502367	220502367	A	C	snp	nonsynonymous SNV	A2681C	D894A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	SLC4A3	Slc4a3	ENSG00000114923	solute carrier family 4 member 3	chr2:220492049-220506702	The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]	febrile seizures; epilepsy	Homozygotes for one knock-out allele show inner retina defects including selective ERG b-wave depression, optic nerve and retinal vessel anomalies, sheathing of retinal vessels and late onset photoreceptor death. Homozygotes for another knock-out allele are more sensitive to seizure-inducing agents.	Bicarbonate transporters	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006820;anion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0051453;regulation of intracellular pH;IBA|GO:0098656;anion transmembrane transport;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;TAS|GO:0008509;anion transmembrane transporter activity;IBA|GO:0015297;antiporter activity;IEA|GO:0015301;anion:anion antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC4A3	https://www.uniprot.org/uniprot/P48751		https://www.ncbi.nlm.nih.gov/omim/?term=106195	http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A3&submit=Quick%0D%4519ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A3	rs635311	0.677516	0.6763	0.7442	0.08	1	13	exonic	exonic	exonic	SLC4A3	SLC4A3	ENSG00000114923	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC4A3:NM_201574:exon17:c.A2681C:p.D894A,SLC4A3:NM_005070:exon17:c.A2600C:p.D867A,	SLC4A3:uc002vmp.4:exon17:c.A2600C:p.D867A,SLC4A3:uc010fwn.1:exon11:c.A1127C:p.D376A,SLC4A3:uc002vmo.4:exon17:c.A2681C:p.D894A,	UNKNOWN	Het;A>C	1126;42|55	Hom;A>C	3412;0|124
N	N	-	2	220771223	220771223	C	T	snp	ncRNA_exonic	 	 	 	 	MIR4268																		rs4674470	0.798123	0	0.8057	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4268	MIR4268	ENSG00000266518	Na	Na	Na	Na	Na	Na	Het;C>T	140;34|11	Hom;C>T	1357;0|55
N	N	-	2	220771290	220771290	G	A	snp	upstream	 	 	 	 	MIR4268																		rs4674471	0.789137	0	0.7991	1	0	0	upstream	upstream	upstream	MIR4268	MIR4268	ENSG00000266518	Na	Na	Na	Na	Na	Na	Het;G>A	254;27|16	Hom;G>A	1119;0|44
N	N	-	2	220771310	220771310	A	G	snp	upstream	 	 	 	 	MIR4268																		rs4674472	0.797923	0	0.8057	1	0	0	upstream	upstream	upstream	MIR4268	MIR4268	ENSG00000266518	Na	Na	Na	Na	Na	Na	Het;A>G	216;21|14	Hom;A>G	868;0|29
N	N	-	2	220771378	220771378	A	G	snp	upstream	 	 	 	 	MIR4268																		rs4674473	0.798123	0	0	1	0	0	upstream	upstream	upstream	MIR4268	MIR4268	ENSG00000266518	Na	Na	Na	Na	Na	Na	Het;A>G	33;4|2	Hom;A>G	142;0|5
N	N	-	2	220995610	220995610	G	C	snp	ncRNA_intronic	 	 	 	 	AC093083.1																		rs11694465	0.326078	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR4268(dist=224324),EPHA4(dist=1287137)	MIR4268(dist=224324),EPHA4(dist=1287137)	ENSG00000235337,ENSG00000239498	Na	Na	Na	Na	Na	Na	Het;G>C	96;2|6	Hom;G>C	120;0|6
N	N	-	2	222290902	222290902	A	G	snp	intronic	 	 	 	 	EPHA4	Epha4	ENSG00000116106	EPH receptor A4	chr2:222282747-222438922	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]	Brain imaging ; Triglycerides; Apolipoproteins B; Parkinson's disease ; C-Reactive Protein	Mutants are known for their "hopping gait".  Homozygotes for targeted null mutations show loss of limb alternation in locomotion and axon guidance defects of the corticospinal tract within medulla and spinal cord, resulting in aberrant midline projections. Heterozygotes show less severe phenotype.	EPH-ephrin mediated repulsion of cells	GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007628;adult walking behavior;IEA|GO:0008045;motor neuron axon guidance;ISS|GO:0008347;glial cell migration;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021957;corticospinal tract morphogenesis;ISS|GO:0043087;regulation of GTPase activity;ISS|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048681;negative regulation of axon regeneration;ISS|GO:0048710;regulation of astrocyte differentiation;ISS|GO:0050770;regulation of axonogenesis;ISS|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0072178;nephric duct morphogenesis;IEA|GO:0097155;fasciculation of sensory neuron axon;ISS|GO:0097156;fasciculation of motor neuron axon;ISS|GO:2001108;positive regulation of Rho guanyl-nucleotide exchange factor activity;IDA	GO:0005737;cytoplasm;ISS|GO:0005741;mitochondrial outer membrane;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031901;early endosome membrane;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IDA|GO:0043198;dendritic shaft;IDA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;ISS|GO:0005005;transmembrane-ephrin receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042731;PH domain binding;IPI|GO:0042802;identical protein binding;IEA|GO:0046875;ephrin receptor binding;IEA|GO:0097161;DH domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EPHA4	https://www.uniprot.org/uniprot/P54764	https://hpo.jax.org/app/browse/search?q=EPHA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602188	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA4&submit=Quick%0D%4701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA4	rs2303901	0.466454	0.5885	0.4463	1	0	0	intronic	intronic	intronic	EPHA4	EPHA4	ENSG00000116106	Na	Na	Na	Na	Na	Na	Het;A>G	633;40|26	Hom;A>G	1757;0|57
N	N	-	2	222301357	222301357	T	C	snp	intronic	 	 	 	 	EPHA4	Epha4	ENSG00000116106	EPH receptor A4	chr2:222282747-222438922	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]	Brain imaging ; Triglycerides; Apolipoproteins B; Parkinson's disease ; C-Reactive Protein	Mutants are known for their "hopping gait".  Homozygotes for targeted null mutations show loss of limb alternation in locomotion and axon guidance defects of the corticospinal tract within medulla and spinal cord, resulting in aberrant midline projections. Heterozygotes show less severe phenotype.	EPH-ephrin mediated repulsion of cells	GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007628;adult walking behavior;IEA|GO:0008045;motor neuron axon guidance;ISS|GO:0008347;glial cell migration;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021957;corticospinal tract morphogenesis;ISS|GO:0043087;regulation of GTPase activity;ISS|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048681;negative regulation of axon regeneration;ISS|GO:0048710;regulation of astrocyte differentiation;ISS|GO:0050770;regulation of axonogenesis;ISS|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0072178;nephric duct morphogenesis;IEA|GO:0097155;fasciculation of sensory neuron axon;ISS|GO:0097156;fasciculation of motor neuron axon;ISS|GO:2001108;positive regulation of Rho guanyl-nucleotide exchange factor activity;IDA	GO:0005737;cytoplasm;ISS|GO:0005741;mitochondrial outer membrane;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031901;early endosome membrane;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IDA|GO:0043198;dendritic shaft;IDA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;ISS|GO:0005005;transmembrane-ephrin receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042731;PH domain binding;IPI|GO:0042802;identical protein binding;IEA|GO:0046875;ephrin receptor binding;IEA|GO:0097161;DH domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EPHA4	https://www.uniprot.org/uniprot/P54764	https://hpo.jax.org/app/browse/search?q=EPHA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602188	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA4&submit=Quick%0D%4701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA4	rs3213844	0.549521	0.6041	0.6701	1	0	0	intronic	intronic	intronic	EPHA4	EPHA4	ENSG00000116106	Na	Na	Na	Na	Na	Na	Het;T>C	789;44|39	Hom;T>C	1941;0|69
N	N	-	2	222320427	222320427	G	A	snp	intronic	 	 	 	 	EPHA4	Epha4	ENSG00000116106	EPH receptor A4	chr2:222282747-222438922	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]	Brain imaging ; Triglycerides; Apolipoproteins B; Parkinson's disease ; C-Reactive Protein	Mutants are known for their "hopping gait".  Homozygotes for targeted null mutations show loss of limb alternation in locomotion and axon guidance defects of the corticospinal tract within medulla and spinal cord, resulting in aberrant midline projections. Heterozygotes show less severe phenotype.	EPH-ephrin mediated repulsion of cells	GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007628;adult walking behavior;IEA|GO:0008045;motor neuron axon guidance;ISS|GO:0008347;glial cell migration;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021957;corticospinal tract morphogenesis;ISS|GO:0043087;regulation of GTPase activity;ISS|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048681;negative regulation of axon regeneration;ISS|GO:0048710;regulation of astrocyte differentiation;ISS|GO:0050770;regulation of axonogenesis;ISS|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0072178;nephric duct morphogenesis;IEA|GO:0097155;fasciculation of sensory neuron axon;ISS|GO:0097156;fasciculation of motor neuron axon;ISS|GO:2001108;positive regulation of Rho guanyl-nucleotide exchange factor activity;IDA	GO:0005737;cytoplasm;ISS|GO:0005741;mitochondrial outer membrane;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031901;early endosome membrane;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IDA|GO:0043198;dendritic shaft;IDA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;ISS|GO:0005005;transmembrane-ephrin receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042731;PH domain binding;IPI|GO:0042802;identical protein binding;IEA|GO:0046875;ephrin receptor binding;IEA|GO:0097161;DH domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EPHA4	https://www.uniprot.org/uniprot/P54764	https://hpo.jax.org/app/browse/search?q=EPHA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602188	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA4&submit=Quick%0D%4701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA4	rs2288627	0.683506	0.718	0.7314	1	0	0	intronic	intronic	intronic	EPHA4	EPHA4	ENSG00000116106	Na	Na	Na	Na	Na	Na	Het;G>A	1142;60|58	Hom;G>A	3174;2|123
N	N	-	2	222321225	222321225	C	T	snp	intronic	 	 	 	 	EPHA4	Epha4	ENSG00000116106	EPH receptor A4	chr2:222282747-222438922	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]	Brain imaging ; Triglycerides; Apolipoproteins B; Parkinson's disease ; C-Reactive Protein	Mutants are known for their "hopping gait".  Homozygotes for targeted null mutations show loss of limb alternation in locomotion and axon guidance defects of the corticospinal tract within medulla and spinal cord, resulting in aberrant midline projections. Heterozygotes show less severe phenotype.	EPH-ephrin mediated repulsion of cells	GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007628;adult walking behavior;IEA|GO:0008045;motor neuron axon guidance;ISS|GO:0008347;glial cell migration;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021957;corticospinal tract morphogenesis;ISS|GO:0043087;regulation of GTPase activity;ISS|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048681;negative regulation of axon regeneration;ISS|GO:0048710;regulation of astrocyte differentiation;ISS|GO:0050770;regulation of axonogenesis;ISS|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0072178;nephric duct morphogenesis;IEA|GO:0097155;fasciculation of sensory neuron axon;ISS|GO:0097156;fasciculation of motor neuron axon;ISS|GO:2001108;positive regulation of Rho guanyl-nucleotide exchange factor activity;IDA	GO:0005737;cytoplasm;ISS|GO:0005741;mitochondrial outer membrane;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031901;early endosome membrane;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IDA|GO:0043198;dendritic shaft;IDA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0044295;axonal growth cone;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;ISS|GO:0005005;transmembrane-ephrin receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042731;PH domain binding;IPI|GO:0042802;identical protein binding;IEA|GO:0046875;ephrin receptor binding;IEA|GO:0097161;DH domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EPHA4	https://www.uniprot.org/uniprot/P54764	https://hpo.jax.org/app/browse/search?q=EPHA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602188	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA4&submit=Quick%0D%4701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA4	rs6718949	0.685903	0	0	1	0	0	intronic	intronic	intronic	EPHA4	EPHA4	ENSG00000116106	Na	Na	Na	Na	Na	Na	Het;C>T	90;9|5	Hom;C>T	155;0|5
N	N	-	2	223781018	223781018	T	A	snp	intronic	 	 	 	 	ACSL3	Acsl3	ENSG00000123983	acyl-CoA synthetase long chain family member 3	chr2:223725652-223809357	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Leukocyte Count; Pulse; Body Mass Index	Homozygous mice exhibit decreased blood percentages of CD4 T cells and B cells, and a decreased IgG1 response to ovalbumin.  Male mutant mice exhibit growth retardation, reduced size and reduced total tissue and lean body mass.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0007420;brain development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0034379;very-low-density lipoprotein particle assembly;IMP|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042998;positive regulation of Golgi to plasma membrane protein transport;IMP|GO:0044539;long-chain fatty acid import;IDA|GO:0051047;positive regulation of secretion;IMP|GO:2001247;positive regulation of phosphatidylcholine biosynthetic process;IMP	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005811;lipid particle;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL3	https://www.uniprot.org/uniprot/O95573		https://www.ncbi.nlm.nih.gov/omim/?term=602371	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL3&submit=Quick%0D%5574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL3	rs35780866	0.396765	0	0.6091	1	0	0	intronic	intronic	intronic	ACSL3	ACSL3	ENSG00000123983	Na	Na	Na	Na	Na	Na	Het;T>A	851;39|45	Hom;T>A	2219;0|74
N	N	-	2	223917629	223917629	C	T	snp	synonymous SNV	C81T	G27G	aliphatic,neutral	aliphatic,neutral	KCNE4	Kcne4	ENSG00000152049	potassium voltage-gated channel subfamily E regulatory subunit 4	chr2:223916532-224063117	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]	atrial fibrillation; Blood Pressure; Waist Circumference; Acute lymphoblastic leukemia (childhood); Leukemia, Lymphoid; Body Mass Index	 	Phase 2 - plateau phase	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNE4	https://www.uniprot.org/uniprot/Q8WWG9		https://www.ncbi.nlm.nih.gov/omim/?term=607775	http://www.informatics.jax.org/searchtool/Search.do?query=KCNE4&submit=Quick%0D%9496ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNE4	rs3795886	0.72504	0.7046	0.7145	1	0	0	exonic	exonic	exonic	KCNE4	KCNE4	ENSG00000152049	synonymous SNV	synonymous SNV	unknown	KCNE4:NM_080671:exon2:c.C234T:p.G78G,	KCNE4:uc021vxi.1:exon1:c.C81T:p.G27G,KCNE4:uc002vnl.5:exon2:c.C234T:p.G78G,	UNKNOWN	Het;C>T	1758;62|86	Hom;C>T	3198;0|122
N	N	-	2	223917983	223917983	T	G	snp	nonsynonymous SNV	T588G	D196E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	KCNE4	Kcne4	ENSG00000152049	potassium voltage-gated channel subfamily E regulatory subunit 4	chr2:223916532-224063117	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]	atrial fibrillation; Blood Pressure; Waist Circumference; Acute lymphoblastic leukemia (childhood); Leukemia, Lymphoid; Body Mass Index	 	Phase 2 - plateau phase	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNE4	https://www.uniprot.org/uniprot/Q8WWG9		https://www.ncbi.nlm.nih.gov/omim/?term=607775	http://www.informatics.jax.org/searchtool/Search.do?query=KCNE4&submit=Quick%0D%9496ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNE4	rs12621643	0.670927	0.6438	0.7033	0.20	2	10	exonic	exonic	exonic	KCNE4	KCNE4	ENSG00000152049	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNE4:NM_080671:exon2:c.T588G:p.D196E,	KCNE4:uc021vxi.1:exon1:c.T435G:p.D145E,KCNE4:uc002vnl.5:exon2:c.T588G:p.D196E,	UNKNOWN	Het;T>G	1397;45|60	Hom;T>G	3209;0|120
N	N	-	2	224018119	224018119	G	C	snp	intergenic	 	 	 	 	NONE																		rs1550962	0.601438	0	0	1	0	0	intergenic	intergenic	intergenic	KCNE4(dist=97762),SCG2(dist=443539)	KCNE4(dist=97762),TRNA_Pseudo(dist=168196)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>C	565;17|25	Hom;G>C	421;0|17
N	N	-	2	224018140	224018140	A	C	snp	intergenic	 	 	 	 	NONE																		rs1448309	0.601438	0	0	1	0	0	intergenic	intergenic	intergenic	KCNE4(dist=97783),SCG2(dist=443518)	KCNE4(dist=97783),TRNA_Pseudo(dist=168175)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>C	579;16|23	Hom;A>C	405;0|16
N	N	-	2	224318167	224318167	A	G	snp	intergenic	 	 	 	 	HIGD1AP4																		rs749262	0.307308	0	0	1	0	0	intergenic	intergenic	intergenic	KCNE4(dist=397810),SCG2(dist=143491)	TRNA_Pseudo(dist=131780),SCG2(dist=143491)	ENSG00000233299(dist=54903),ENSG00000231189(dist=45324)	Na	Na	Na	Na	Na	Na	Het;A>G	539;29|28	Hom;A>G	844;0|32
N	N	-	2	225843344	225843344	G	A	snp	intronic	 	 	 	 	DOCK10	Dock10	ENSG00000135905	dedicator of cytokinesis 10	chr2:225629807-225907162	This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]	Attention Deficit Disorder with Hyperactivity	Mice homozygous for a knock-out allele exhibit a reduction of B cell numbers in secondary lymphoid organs. Follicular B cells show membrane CD23 overexpression.	Factors involved in megakaryocyte development and platelet production	GO:0001782;B cell homeostasis;ISS|GO:0002315;marginal zone B cell differentiation;ISS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0030334;regulation of cell migration;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0060997;dendritic spine morphogenesis;ISS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005085;guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK10	https://www.uniprot.org/uniprot/Q96BY6		https://www.ncbi.nlm.nih.gov/omim/?term=611518	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK10&submit=Quick%0D%7240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK10	rs13419043	0.751997	0	0	1	0	0	intronic	intronic	intronic	DOCK10	DOCK10	ENSG00000135905	Na	Na	Na	Na	Na	Na	Het;G>A	88;12|6	Hom;G>A	637;0|22
N	N	-	2	227094758	227094758	A	G	snp	intergenic	 	 	 	 	AC062015.1																		rs2203452	0.732628	0	0	1	0	0	intergenic	intergenic	intergenic	LOC646736(dist=49980),MIR5702(dist=428668)	LOC646736(dist=49980),MIR5702(dist=428668)	ENSG00000235070(dist=44671),ENSG00000263363(dist=428668)	Na	Na	Na	Na	Na	Na	Het;A>G	473;11|21	Hom;A>G	1078;0|38
N	N	-	2	227914975	227914975	T	G	snp	intronic	 	 	 	 	COL4A4	Col4a4	ENSG00000081052	collagen type IV alpha 4 chain	chr2:227867427-228028829	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]	Keratoconus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; nephropathy; Glomerulonephritis, Membranous; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; keratoconus; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss.	Collagen chain trimerization	GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0032836;glomerular basement membrane development;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;IDA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/COL4A4	https://www.uniprot.org/uniprot/P53420	https://hpo.jax.org/app/browse/search?q=COL4A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120131	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A4&submit=Quick%0D%1757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A4	rs2251223	0.685903	0	0	1	0	0	intronic	intronic	intronic	COL4A4	COL4A4	ENSG00000081052	Na	Na	Na	Na	Na	Na	Het;T>G	82;2|3	Hom;T>G	223;0|6
N	N	-	2	227919609	227919609	A	G	snp	intronic	 	 	 	 	COL4A4	Col4a4	ENSG00000081052	collagen type IV alpha 4 chain	chr2:227867427-228028829	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]	Keratoconus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; nephropathy; Glomerulonephritis, Membranous; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; keratoconus; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss.	Collagen chain trimerization	GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0032836;glomerular basement membrane development;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;IDA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/COL4A4	https://www.uniprot.org/uniprot/P53420	https://hpo.jax.org/app/browse/search?q=COL4A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120131	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A4&submit=Quick%0D%1757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A4	rs4675142	0.670927	0	0	1	0	0	intronic	intronic	intronic	COL4A4	COL4A4	ENSG00000081052	Na	Na	Na	Na	Na	Na	Het;A>G	51;1|3	Hom;A>G	179;0|5
N	N	-	2	227922015	227922015	A	G	snp	intronic	 	 	 	 	COL4A4	Col4a4	ENSG00000081052	collagen type IV alpha 4 chain	chr2:227867427-228028829	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]	Keratoconus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; nephropathy; Glomerulonephritis, Membranous; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; keratoconus; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss.	Collagen chain trimerization	GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0032836;glomerular basement membrane development;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;IDA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/COL4A4	https://www.uniprot.org/uniprot/P53420	https://hpo.jax.org/app/browse/search?q=COL4A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120131	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A4&submit=Quick%0D%1757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A4	rs4566357	0.666534	0	0	1	0	0	intronic	intronic	intronic	COL4A4	COL4A4	ENSG00000081052	Na	Na	Na	Na	Na	Na	Het;A>G	33;2|2	Hom;A>G	113;0|4
N	N	-	2	227922104	227922104	T	C	snp	intronic	 	 	 	 	COL4A4	Col4a4	ENSG00000081052	collagen type IV alpha 4 chain	chr2:227867427-228028829	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]	Keratoconus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; nephropathy; Glomerulonephritis, Membranous; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; keratoconus; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss.	Collagen chain trimerization	GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0032836;glomerular basement membrane development;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;IDA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/COL4A4	https://www.uniprot.org/uniprot/P53420	https://hpo.jax.org/app/browse/search?q=COL4A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120131	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A4&submit=Quick%0D%1757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A4	rs7567789	0.666534	0.6576	0.6524	1	0	0	intronic	intronic	intronic	COL4A4	COL4A4	ENSG00000081052	Na	Na	Na	Na	Na	Na	Het;T>C	371;7|10	Hom;T>C	972;0|21
N	N	-	2	227922109	227922109	T	A	snp	intronic	 	 	 	 	COL4A4	Col4a4	ENSG00000081052	collagen type IV alpha 4 chain	chr2:227867427-228028829	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]	Keratoconus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; nephropathy; Glomerulonephritis, Membranous; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; keratoconus; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss.	Collagen chain trimerization	GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0032836;glomerular basement membrane development;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;IDA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/COL4A4	https://www.uniprot.org/uniprot/P53420	https://hpo.jax.org/app/browse/search?q=COL4A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120131	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A4&submit=Quick%0D%1757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A4	rs7567796	0.633786	0.6245	0.6513	1	0	0	intronic	intronic	intronic	COL4A4	COL4A4	ENSG00000081052	Na	Na	Na	Na	Na	Na	Het;T>A	371;7|10	Hom;T>A	972;0|23
N	N	-	2	227927189	227927190	GT	G	indel	intronic	 	 	 	 	COL4A4	Col4a4	ENSG00000081052	collagen type IV alpha 4 chain	chr2:227867427-228028829	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]	Keratoconus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; nephropathy; Glomerulonephritis, Membranous; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; keratoconus; cleft lip with cleft palate cleft lip without cleft palate cleft palate	Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss.	Collagen chain trimerization	GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0032836;glomerular basement membrane development;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;IDA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IMP	http://www.genecards.org/index.php?path=/Search/keyword/COL4A4	https://www.uniprot.org/uniprot/P53420	https://hpo.jax.org/app/browse/search?q=COL4A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120131	http://www.informatics.jax.org/searchtool/Search.do?query=COL4A4&submit=Quick%0D%1757ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A4	rs35717623	0.558307	0	0	1	0	0	intronic	intronic	intronic	COL4A4	COL4A4	ENSG00000081052	Na	Na	Na	Na	Na	Na	Het;-T	164;8|13	Hom;-T	369;0|17
N	N	-	2	228177642	228177643	TA	T	indel	ncRNA_intronic	 	 	 	 	LOC654841																		rs11297279	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC654841	LOC654841	ENSG00000236432	Na	Na	Na	Na	Na	Na	Het;-A	488;24|39	Hom;-A	1085;3|54
N	N	-	2	228477814	228477814	G	C	snp	intronic	 	 	 	 	C2orf83		ENSG00000042304	chromosome 2 open reading frame 83	chr2:228474806-228498036					GO:0006810;transport;IEA|GO:0071934;thiamine transmembrane transport;IBA	GO:0016020;membrane;IEA	GO:0015403;thiamine uptake transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/C2orf83	https://www.uniprot.org/uniprot/Q53S99			http://www.informatics.jax.org/searchtool/Search.do?query=C2orf83&submit=Quick%0D%833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf83	rs7586824	0.364217	0	0	1	0	0	intronic	intronic	intronic	C2orf83	C2orf83	ENSG00000042304	Na	Na	Na	Na	Na	Na	Het;G>C	431;6|18	Hom;G>C	515;0|18
N	N	-	2	228524179	228524179	G	A	snp	intergenic	 	 	 	 	AC064853.2																		rs4332915	0.465855	0	0	1	0	0	intergenic	intergenic	intergenic	C2orf83(dist=26143),SLC19A3(dist=25747)	C2orf83(dist=26143),SLC19A3(dist=25747)	ENSG00000250599(dist=10857),ENSG00000135917(dist=25747)	Na	Na	Na	Na	Na	Na	Het;G>A	1536;47|68	Hom;G>A	2870;2|110
N	N	-	2	228582746	228582746	G	A	snp	upstream	 	 	 	 	SLC19A3	Slc19a3	ENSG00000135917	solute carrier family 19 member 3	chr2:228549926-228582728	This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]	Sodium	Mice homozygous for a knock-out allele exhibit premature death within a year of age, impaired thiamin uptake, lethargy, cachexia, injured liver parenchyma, hepatic necrosis, liver and kidney inflammmation, and nephrosclerosis.	Vitamin B1 (thiamin) metabolism	GO:0006810;transport;IEA|GO:0015888;thiamine transport;IEA|GO:0042723;thiamine-containing compound metabolic process;TAS|GO:0071934;thiamine transmembrane transport;IBA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015234;thiamine transmembrane transporter activity;TAS|GO:0015403;thiamine uptake transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC19A3	https://www.uniprot.org/uniprot/Q9BZV2	https://hpo.jax.org/app/browse/search?q=SLC19A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606152	http://www.informatics.jax.org/searchtool/Search.do?query=SLC19A3&submit=Quick%0D%7245ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC19A3	rs4972919	0.535543	0	0	1	0	0	upstream	upstream	upstream	SLC19A3	SLC19A3	ENSG00000135917	Na	Na	Na	Na	Na	Na	Het;G>A	944;58|49	Hom;G>A	2549;0|97
N	N	-	2	229145739	229145739	C	G	snp	intergenic	 	 	 	 	SPHKAP	Sphkap	ENSG00000153820	SPHK1 interactor, AKAP domain containing	chr2:228844666-229046361		Cholesterol, HDL; Basophils; Echocardiography; Resistin; Neuroblastoma; Body Weight; Stroke; Tobacco Use Disorder	 		GO:0010738;regulation of protein kinase A signaling;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IBA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0051018;protein kinase A binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPHKAP	https://www.uniprot.org/uniprot/Q2M3C7		https://www.ncbi.nlm.nih.gov/omim/?term=611646	http://www.informatics.jax.org/searchtool/Search.do?query=SPHKAP&submit=Quick%0D%9690ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPHKAP	rs58627897	0.245407	0	0	1	0	0	intergenic	intergenic	intergenic	SPHKAP(dist=99378),PID1(dist=742950)	SPHKAP(dist=99378),PID1(dist=742950)	ENSG00000153820(dist=99378),ENSG00000203387(dist=71097)	Na	Na	Na	Na	Na	Na	Het;C>G	438;14|21	Hom;C>G	845;0|31
N	N	-	2	230096837	230096837	C	T	snp	intronic	 	 	 	 	PID1	Pid1	ENSG00000153823	phosphotyrosine interaction domain containing 1	chr2:229715242-230136001		Lung Diseases; Intuition; Stroke; Lipoproteins; Cholesterol, HDL	 		GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0006112;energy reserve metabolic process;IC|GO:0010628;positive regulation of gene expression;IMP|GO:0010635;regulation of mitochondrial fusion;IC|GO:0044320;cellular response to leptin stimulus;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046325;negative regulation of glucose import;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IDA|GO:0051881;regulation of mitochondrial membrane potential;ISS|GO:0070346;positive regulation of fat cell proliferation;IDA|GO:0070584;mitochondrion morphogenesis;IMP|GO:0071345;cellular response to cytokine stimulus;ISS|GO:0071354;cellular response to interleukin-6;ISS|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071398;cellular response to fatty acid;ISS|GO:0090005;negative regulation of establishment of protein localization to plasma membrane;IDA|GO:0090298;negative regulation of mitochondrial DNA replication;IMP|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IDA|GO:2000377;regulation of reactive oxygen species metabolic process;ISS|GO:2000379;positive regulation of reactive oxygen species metabolic process;IMP|GO:2001170;negative regulation of ATP biosynthetic process;IMP|GO:2001171;positive regulation of ATP biosynthetic process;ISS|GO:2001274;negative regulation of glucose import in response to insulin stimulus;IDA	GO:0005737;cytoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PID1	https://www.uniprot.org/uniprot/Q7Z2X4		https://www.ncbi.nlm.nih.gov/omim/?term=612930	http://www.informatics.jax.org/searchtool/Search.do?query=PID1&submit=Quick%0D%9692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PID1	rs6743582	0.449481	0	0	1	0	0	intronic	intronic	intronic	PID1	PID1	ENSG00000153823	Na	Na	Na	Na	Na	Na	Het;C>T	323;11|14	Hom;C>T	700;0|24
N	N	-	2	230411518	230411522	TAGAC	T	indel	intronic	 	 	 	 	DNER	Dner	ENSG00000187957	delta/notch like EGF repeat containing	chr2:230222345-230579274		Arteries; C-Reactive Protein; Blood Pressure Determination; Atrial Natriuretic Factor	Homozygous null mice display delayed cerebellar development, abnormal Bergmann glial cells, abnormal Purkinje cell innervation, and impaired coordination.	Activated NOTCH1 Transmits Signal to the Nucleus	GO:0001764;neuron migration;NAS|GO:0006897;endocytosis;NAS|GO:0007219;Notch signaling pathway;IEA|GO:0007220;Notch receptor processing;IEA|GO:0007416;synapse assembly;NAS|GO:0007417;central nervous system development;IEP|GO:0010001;glial cell differentiation;IEA|GO:0048741;skeletal muscle fiber development;IEA	GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IDA|GO:0043025;neuronal cell body;IEA	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0030276;clathrin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DNER			https://www.ncbi.nlm.nih.gov/omim/?term=607299	http://www.informatics.jax.org/searchtool/Search.do?query=DNER&submit=Quick%0D%15934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNER	rs113820870	0	0	0	1	0	0	intronic	intronic	intronic	DNER	DNER	ENSG00000187957	Na	Na	Na	Na	Na	Na	Het;-AGAC	189;2|6	Hom;-AGAC	233;0|6
N	N	-	2	230668968	230668968	G	A	snp	intronic	 	 	 	 	TRIP12	Trip12	ENSG00000153827	thyroid hormone receptor interactor 12	chr2:230628554-230787955		thyroid cancer; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit complete embryonic lethality during organogenesis associated with embryonic growth retardation and abnormal placenta development.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009790;embryo development;ISS|GO:0016567;protein ubiquitination;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:1901315;negative regulation of histone H2A K63-linked ubiquitination;IMP|GO:2000780;negative regulation of double-strand break repair;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0046966;thyroid hormone receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIP12	https://www.uniprot.org/uniprot/Q14669	https://hpo.jax.org/app/browse/search?q=TRIP12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604506	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP12&submit=Quick%0D%9693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP12	rs4972915	0.815495	0.8156	0.7918	1	0	0	intronic	intronic	intronic	TRIP12	TRIP12	ENSG00000153827	Na	Na	Na	Na	Na	Na	Het;G>A	226;17|12	Hom;G>A	1042;0|36
N	N	-	2	231033516	231033516	C	T	snp	downstream	 	 	 	 	SP110	Sp110	ENSG00000135899	SP110 nuclear body protein	chr2:231032009-231090444	The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]	Graft vs Host Disease; HIV Infections|[X]Human immunodeficiency virus disease; hepatitis C; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Waist Circumference; Tuberculosis|Tuberculosis, Pulmonary; Leukemia, Lymphocytic, Chronic, B-Cell; tuberculosis; Chronic lymphocytic leukemia; Hepatitis C|Remission, Spontaneous	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0016032;viral process;IEA	GO:0005634;nucleus;TAS	GO:0003677;DNA binding;TAS|GO:0004871;signal transducer activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP110	https://www.uniprot.org/uniprot/Q9HB58	https://hpo.jax.org/app/browse/search?q=SP110&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604457	http://www.informatics.jax.org/searchtool/Search.do?query=SP110&submit=Quick%0D%7236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP110	rs722555	0.520367	0	0	1	0	0	downstream	downstream	ncRNA_intronic	SP110	SP110	ENSG00000225963	Na	Na	Na	Na	Na	Na	Het;C>T	556;35|27	Hom;C>T	2283;0|88
N	N	-	2	231037833	231037833	T	C	snp	ncRNA_exonic	 	 	 	 	AC009950.1																		rs10498244	0.227835	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SP110	SP110	ENSG00000225963	Na	Na	Na	Na	Na	Na	Het;T>C	67;1|3	Hom;T>C	206;0|7
N	N	-	2	231042276	231042276	A	G	snp	nonsynonymous SNV	T1568C	M523T	hydrophobic,neutral	polar,hydrophilic,neutral	SP110	Sp110	ENSG00000135899	SP110 nuclear body protein	chr2:231032009-231090444	The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]	Graft vs Host Disease; HIV Infections|[X]Human immunodeficiency virus disease; hepatitis C; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Waist Circumference; Tuberculosis|Tuberculosis, Pulmonary; Leukemia, Lymphocytic, Chronic, B-Cell; tuberculosis; Chronic lymphocytic leukemia; Hepatitis C|Remission, Spontaneous	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0016032;viral process;IEA	GO:0005634;nucleus;TAS	GO:0003677;DNA binding;TAS|GO:0004871;signal transducer activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP110	https://www.uniprot.org/uniprot/Q9HB58	https://hpo.jax.org/app/browse/search?q=SP110&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604457	http://www.informatics.jax.org/searchtool/Search.do?query=SP110&submit=Quick%0D%7236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP110	rs1135791	0.32488	0.4175	0.4256	0.08	1	13	exonic	exonic	exonic	SP110	SP110	ENSG00000135899	nonsynonymous SNV	nonsynonymous SNV	unknown	SP110:NM_004509:exon14:c.T1568C:p.M523T,SP110:NM_004510:exon14:c.T1568C:p.M523T,SP110:NM_080424:exon14:c.T1568C:p.M523T,SP110:NM_001185015:exon15:c.T1586C:p.M529T,	SP110:uc002vqh.3:exon14:c.T1568C:p.M523T,SP110:uc010fxk.3:exon14:c.T1562C:p.M521T,SP110:uc010fxj.3:exon6:c.T497C:p.M166T,SP110:uc002vqg.3:exon14:c.T1568C:p.M523T,SP110:uc021vxx.1:exon15:c.T1586C:p.M529T,SP110:uc002vqi.4:exon14:c.T1568C:p.M523T,	UNKNOWN	Het;A>G	1419;91|67	Hom;A>G	4198;0|160
N	N	-	2	231162341	231162341	G	T	snp	intronic	 	 	 	 	SP140	Sp140	ENSG00000079263	SP140 nuclear body protein	chr2:231067826-231223762	This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]	Multiple Sclerosis; Waist Circumference; Chronic lymphocytic leukemia; Platelet Count; Leukemia, Lymphocytic, Chronic, B-Cell; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006952;defense response;TAS	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;TAS|GO:0005635;nuclear envelope;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016605;PML body;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140	https://www.uniprot.org/uniprot/Q13342		https://www.ncbi.nlm.nih.gov/omim/?term=608602	http://www.informatics.jax.org/searchtool/Search.do?query=SP140&submit=Quick%0D%1692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140	rs13405136	0.475639	0	0	1	0	0	intronic	intronic	intronic	SP140	SP140	ENSG00000079263	Na	Na	Na	Na	Na	Na	Het;G>T	104;1|4	Hom;G>T	411;0|12
N	N	-	2	231223975	231223975	C	T	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs11678791	0.178315	0	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;C>T	123;4|5	Hom;C>T	282;0|9
N	N	-	2	231253183	231253183	A	G	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs72996270	0.211462	0	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;A>G	192;6|7	Hom;A>G	465;0|12
N	N	-	2	231253216	231253216	A	G	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs11688362	0.16254	0.2510	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;A>G	358;13|15	Hom;A>G	763;0|25
N	N	-	2	231254919	231254919	C	T	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs17332171	0.209864	0	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;C>T	52;4|3	Hom;C>T	114;0|4
N	N	-	2	231256812	231256812	A	G	snp	synonymous SNV	A975G	A325A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs7559665	0.204872	0.2754	0.2632	1	0	0	exonic	exonic	exonic	SP140L	SP140L	ENSG00000185404	synonymous SNV	synonymous SNV	unknown	SP140L:NM_138402:exon12:c.A975G:p.A325A,	SP140L:uc010fxm.1:exon12:c.A975G:p.A325A,SP140L:uc010fxo.1:exon6:c.A291G:p.A97A,	UNKNOWN	Het;A>G	1477;88|68	Hom;A>G	3662;0|127
N	N	-	2	231257003	231257004	GA	G	indel	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs60617421	0.170527	0	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;-A	3438;81|102	Hom;-A	5072;0|129
N	N	-	2	231258218	231258218	A	T	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs7563909	0.210663	0.2817	0.3028	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;A>T	151;31|11	Hom;A>T	778;0|30
N	N	-	2	231261620	231261620	G	A	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs6732940	0.208067	0	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;G>A	81;14|7	Hom;G>A	681;0|23
N	N	-	2	231264733	231264733	T	C	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs3769849	0.209265	0	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;T>C	151;13|7	Hom;T>C	963;0|29
N	N	-	2	231266626	231266626	G	A	snp	intronic	 	 	 	 	SP140L	 	ENSG00000185404	SP140 nuclear body protein like	chr2:231191899-231268447		Platelet Count; Tobacco Use Disorder; longevity	 			GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SP140L				http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L	rs141046703	0.208466	0	0	1	0	0	intronic	intronic	intronic	SP140L	SP140L	ENSG00000185404	Na	Na	Na	Na	Na	Na	Het;G>A	454;15|18	Hom;G>A	672;0|23
N	N	-	2	231309139	231309139	A	T	snp	intronic	 	 	 	 	SP100	Sp100	ENSG00000067066	SP100 nuclear antigen	chr2:231280657-231408805	This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; longevity; Narcolepsy	 	Interferon gamma signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000723;telomere maintenance;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045185;maintenance of protein location;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0051271;negative regulation of cellular component movement;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;IC|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902044;regulation of Fas signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030870;Mre11 complex;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SP100	https://www.uniprot.org/uniprot/P23497		https://www.ncbi.nlm.nih.gov/omim/?term=604585	http://www.informatics.jax.org/searchtool/Search.do?query=SP100&submit=Quick%0D%1240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP100	rs55637456	0.242412	0	0	1	0	0	intronic	intronic	intronic	SP100	SP100	ENSG00000067066	Na	Na	Na	Na	Na	Na	Het;A>T	100;13|5	Hom;A>T	612;0|19
N	N	-	2	231331694	231331694	A	G	snp	intronic	 	 	 	 	SP100	Sp100	ENSG00000067066	SP100 nuclear antigen	chr2:231280657-231408805	This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; longevity; Narcolepsy	 	Interferon gamma signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000723;telomere maintenance;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045185;maintenance of protein location;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0051271;negative regulation of cellular component movement;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;IC|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902044;regulation of Fas signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030870;Mre11 complex;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SP100	https://www.uniprot.org/uniprot/P23497		https://www.ncbi.nlm.nih.gov/omim/?term=604585	http://www.informatics.jax.org/searchtool/Search.do?query=SP100&submit=Quick%0D%1240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP100	rs1678159	0.664736	0	0	1	0	0	intronic	intronic	intronic	SP100	SP100	ENSG00000067066	Na	Na	Na	Na	Na	Na	Het;A>G	179;1|5	Hom;A>G	188;0|4
N	N	-	2	231331701	231331701	A	AG	indel	intronic	 	 	 	 	SP100	Sp100	ENSG00000067066	SP100 nuclear antigen	chr2:231280657-231408805	This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; longevity; Narcolepsy	 	Interferon gamma signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000723;telomere maintenance;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045185;maintenance of protein location;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0051271;negative regulation of cellular component movement;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;IC|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902044;regulation of Fas signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030870;Mre11 complex;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SP100	https://www.uniprot.org/uniprot/P23497		https://www.ncbi.nlm.nih.gov/omim/?term=604585	http://www.informatics.jax.org/searchtool/Search.do?query=SP100&submit=Quick%0D%1240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP100	rs3214547	0.664736	0	0	1	0	0	intronic	intronic	intronic	SP100	SP100	ENSG00000067066	Na	Na	Na	Na	Na	Na	Het;+G	170;1|5	Hom;+G	276;0|5
N	N	-	2	231331799	231331799	T	C	snp	intronic	 	 	 	 	SP100	Sp100	ENSG00000067066	SP100 nuclear antigen	chr2:231280657-231408805	This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; longevity; Narcolepsy	 	Interferon gamma signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000723;telomere maintenance;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045185;maintenance of protein location;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0051271;negative regulation of cellular component movement;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;IC|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902044;regulation of Fas signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030870;Mre11 complex;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SP100	https://www.uniprot.org/uniprot/P23497		https://www.ncbi.nlm.nih.gov/omim/?term=604585	http://www.informatics.jax.org/searchtool/Search.do?query=SP100&submit=Quick%0D%1240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP100	rs1649869	0.669329	0.7151	0.7204	1	0	0	intronic	intronic	intronic	SP100	SP100	ENSG00000067066	Na	Na	Na	Na	Na	Na	Het;T>C	835;27|33	Hom;T>C	1669;2|61
N	N	-	2	231331896	231331896	G	A	snp	synonymous SNV	G1257A	S419S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SP100	Sp100	ENSG00000067066	SP100 nuclear antigen	chr2:231280657-231408805	This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; longevity; Narcolepsy	 	Interferon gamma signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000723;telomere maintenance;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045185;maintenance of protein location;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0051271;negative regulation of cellular component movement;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;IC|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902044;regulation of Fas signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030870;Mre11 complex;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SP100	https://www.uniprot.org/uniprot/P23497		https://www.ncbi.nlm.nih.gov/omim/?term=604585	http://www.informatics.jax.org/searchtool/Search.do?query=SP100&submit=Quick%0D%1240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP100	rs1050224	0.664936	0.7121	0.7189	1	0	0	exonic	exonic	exonic	SP100	SP100	ENSG00000067066	synonymous SNV	synonymous SNV	unknown	SP100:NM_001206702:exon13:c.G1257A:p.S419S,SP100:NM_001206703:exon12:c.G1182A:p.S394S,SP100:NM_001080391:exon13:c.G1257A:p.S419S,SP100:NM_001206701:exon13:c.G1257A:p.S419S,SP100:NM_003113:exon13:c.G1257A:p.S419S,SP100:NM_001206704:exon14:c.G1152A:p.S384S,	SP100:uc002vqu.1:exon13:c.G1257A:p.S419S,SP100:uc002vqt.3:exon13:c.G1257A:p.S419S,SP100:uc010zmc.2:exon12:c.G1182A:p.S394S,SP100:uc002vqs.3:exon13:c.G1257A:p.S419S,SP100:uc002vqv.2:exon14:c.G1152A:p.S384S,SP100:uc002vqq.2:exon13:c.G1257A:p.S419S,	UNKNOWN	Het;G>A	958;76|50	Hom;G>A	3810;2|146
N	N	-	2	231406680	231406680	T	C	snp	nonsynonymous SNV	T2477C	M826T	hydrophobic,neutral	polar,hydrophilic,neutral	SP100	Sp100	ENSG00000067066	SP100 nuclear antigen	chr2:231280657-231408805	This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; longevity; Narcolepsy	 	Interferon gamma signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000723;telomere maintenance;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045185;maintenance of protein location;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0051271;negative regulation of cellular component movement;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;IC|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902044;regulation of Fas signaling pathway;IMP	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030870;Mre11 complex;IDA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070087;chromo shadow domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SP100	https://www.uniprot.org/uniprot/P23497		https://www.ncbi.nlm.nih.gov/omim/?term=604585	http://www.informatics.jax.org/searchtool/Search.do?query=SP100&submit=Quick%0D%1240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SP100	rs836237	0.727436	0.8244	0.7995	0.08	1	12	exonic	exonic	exonic	SP100	SP100	ENSG00000067066	nonsynonymous SNV	nonsynonymous SNV	unknown	SP100:NM_001080391:exon28:c.T2477C:p.M826T,	SP100:uc002vqu.1:exon28:c.T2477C:p.M826T,SP100:uc010fxp.1:exon7:c.T431C:p.M144T,	UNKNOWN	Het;T>C	1208;84|64	Hom;T>C	3142;0|115
N	N	-	2	231407519	231407519	C	T	snp	ncRNA_intronic	 	 	 	 	AC010149.1																		rs6717269	0.729633	0.8225	0.8013	1	0	0	intronic	intronic	ncRNA_intronic	SP100	SP100	ENSG00000235419	Na	Na	Na	Na	Na	Na	Het;C>T	357;21|19	Hom;C>T	1319;0|46
N	N	-	2	231457618	231457618	C	T	snp	intergenic	 	 	 	 	RNU6-451P																		rs6735336	0.391374	0	0	1	0	0	intergenic	intergenic	intergenic	SP100(dist=47301),LOC151475(dist=98018)	SP100(dist=47301),LOC151475(dist=98018)	ENSG00000199791(dist=5676),ENSG00000226125(dist=98018)	Na	Na	Na	Na	Na	Na	Het;C>T	344;17|17	Hom;C>T	665;0|23
N	N	-	2	231555684	231555684	T	C	snp	ncRNA_exonic	 	 	 	 	LOC151475																		rs938906	0.68131	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC151475	LOC151475	ENSG00000226125	Na	Na	Na	Na	Na	Na	Het;T>C	502;40|24	Hom;T>C	1505;0|56
N	N	-	2	231556188	231556188	A	G	snp	ncRNA_exonic	 	 	 	 	LOC151475																		rs4973343	0.579473	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC151475	LOC151475	ENSG00000226125	Na	Na	Na	Na	Na	Na	Het;A>G	2369;92|108	Hom;A>G	5168;0|188
N	N	-	2	231556663	231556663	G	A	snp	ncRNA_exonic	 	 	 	 	LOC151475																		rs4972969	0.30651	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC151475	LOC151475	ENSG00000226125	Na	Na	Na	Na	Na	Na	Het;G>A	808;50|37	Hom;G>A	2641;2|100
N	N	-	2	231561178	231561178	T	C	snp	ncRNA_exonic	 	 	 	 	LOC151475																		rs17762734	0.342252	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC151475	LOC151475	ENSG00000226125	Na	Na	Na	Na	Na	Na	Het;T>C	2613;96|117	Hom;T>C	4494;2|167
N	N	-	2	232196472	232196472	T	A	snp	intronic	 	 	 	 	ARMC9	Armc9	ENSG00000135931	armadillo repeat containing 9	chr2:232063260-232239548		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ARMC9	https://www.uniprot.org/uniprot/Q7Z3E5	https://hpo.jax.org/app/browse/search?q=ARMC9&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=ARMC9&submit=Quick%0D%7252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC9	rs1729082	0.242612	0.2583	0.2985	1	0	0	intronic	intronic	intronic	ARMC9	ARMC9	ENSG00000135931	Na	Na	Na	Na	Na	Na	Het;T>A	309;19|16	Hom;T>A	460;0|18
N	N	-	2	232196564	232196564	C	T	snp	synonymous SNV	C1833T	L611L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARMC9	Armc9	ENSG00000135931	armadillo repeat containing 9	chr2:232063260-232239548		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ARMC9	https://www.uniprot.org/uniprot/Q7Z3E5	https://hpo.jax.org/app/browse/search?q=ARMC9&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=ARMC9&submit=Quick%0D%7252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC9	rs1669083	0.26238	0.2777	0.3034	1	0	0	exonic	exonic	exonic	ARMC9	ARMC9	ENSG00000135931	synonymous SNV	synonymous SNV	unknown	ARMC9:NM_001291656:exon20:c.C1833T:p.L611L,ARMC9:NM_025139:exon20:c.C1833T:p.L611L,	ARMC9:uc002vrq.5:exon20:c.C1833T:p.L611L,ARMC9:uc031rrs.1:exon20:c.C1833T:p.L611L,ARMC9:uc002vrp.5:exon20:c.C1833T:p.L611L,	UNKNOWN	Het;C>T	568;30|29	Hom;C>T	1025;0|39
N	N	-	2	232196597	232196597	G	A	snp	synonymous SNV	G1866A	T622T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ARMC9	Armc9	ENSG00000135931	armadillo repeat containing 9	chr2:232063260-232239548		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 			GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ARMC9	https://www.uniprot.org/uniprot/Q7Z3E5	https://hpo.jax.org/app/browse/search?q=ARMC9&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=ARMC9&submit=Quick%0D%7252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC9	rs1669084	0.294329	0.3231	0.3409	1	0	0	exonic	exonic	exonic	ARMC9	ARMC9	ENSG00000135931	synonymous SNV	synonymous SNV	unknown	ARMC9:NM_001291656:exon20:c.G1866A:p.T622T,ARMC9:NM_025139:exon20:c.G1866A:p.T622T,	ARMC9:uc002vrq.5:exon20:c.G1866A:p.T622T,ARMC9:uc031rrs.1:exon20:c.G1866A:p.T622T,ARMC9:uc002vrp.5:exon20:c.G1866A:p.T622T,	UNKNOWN	Het;G>A	586;29|28	Hom;G>A	899;0|33
N	N	-	2	232790053	232790053	C	T	snp	intronic	 	 	 	 	NPPC	Nppc	ENSG00000163273	natriuretic peptide C	chr2:232786530-232791113	This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cardiac natriuretic peptides CNP-53, CNP-29 and CNP-22, which belong to the natriuretic family of peptides. The encoded peptides exhibit vasorelaxation activity in laboratory animals and elevated levels of CNP-22 have been observed in the plasma of chronic heart failure patients. [provided by RefSeq, Oct 2015]	null; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Body Height; hypertension; Ventricular Dysfunction; height; Psychiatric Disorders	Homozygotes for a targeted null mutation exhibit severe dwarfism due to impaired endochondral ossification. Mutants are viable at birth, but fewer than half survive postnatal development.  Mice homozygous for a knock-out allele exhibit abnormal secondarysensory axon bifurcation.	Physiological factors	GO:0001503;ossification;IEA|GO:0001666;response to hypoxia;IEA|GO:0003418;growth plate cartilage chondrocyte differentiation;IEA|GO:0003419;growth plate cartilage chondrocyte proliferation;IEA|GO:0006182;cGMP biosynthetic process;IDA|GO:0006457;protein folding;IDA|GO:0007168;receptor guanylyl cyclase signaling pathway;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009791;post-embryonic development;IEA|GO:0030814;regulation of cAMP metabolic process;IDA|GO:0030823;regulation of cGMP metabolic process;IDA|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042493;response to drug;IEA|GO:0044702;single organism reproductive process;IEA|GO:0045471;response to ethanol;IEA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0048513;animal organ development;IEA|GO:0048660;regulation of smooth muscle cell proliferation;IEA|GO:0050880;regulation of blood vessel size;IEA|GO:0051053;negative regulation of DNA metabolic process;IEA|GO:0051447;negative regulation of meiotic cell cycle;IDA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900194;negative regulation of oocyte maturation;IDA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0030141;secretory granule;IEA|GO:0043234;protein complex;IDA	GO:0005102;receptor binding;IPI|GO:0005179;hormone activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0051428;peptide hormone receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NPPC			https://www.ncbi.nlm.nih.gov/omim/?term=600296	http://www.informatics.jax.org/searchtool/Search.do?query=NPPC&submit=Quick%0D%10921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPPC	rs5268	0.419529	0	0	1	0	0	intronic	intronic	intronic	NPPC	NPPC	ENSG00000163273	Na	Na	Na	Na	Na	Na	Het;C>T	42;2|3	Hom;C>T	99;0|4
N	N	-	2	233536926	233536926	T	C	snp	intronic	 	 	 	 	EFHD1	Efhd1	ENSG00000115468	EF-hand domain family member D1	chr2:233470767-233547491	This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0031175;neuron projection development;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFHD1	https://www.uniprot.org/uniprot/Q9BUP0		https://www.ncbi.nlm.nih.gov/omim/?term=611617	http://www.informatics.jax.org/searchtool/Search.do?query=EFHD1&submit=Quick%0D%4609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHD1	rs11684420	0.345847	0	0	1	0	0	intronic	intronic	intronic	EFHD1	EFHD1	ENSG00000115468	Na	Na	Na	Na	Na	Na	Het;T>C	276;5|10	Hom;T>C	743;0|23
N	N	-	2	233537125	233537125	A	G	snp	nonsynonymous SNV	A557G	K186R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	EFHD1	Efhd1	ENSG00000115468	EF-hand domain family member D1	chr2:233470767-233547491	This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0031175;neuron projection development;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFHD1	https://www.uniprot.org/uniprot/Q9BUP0		https://www.ncbi.nlm.nih.gov/omim/?term=611617	http://www.informatics.jax.org/searchtool/Search.do?query=EFHD1&submit=Quick%0D%4609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHD1	rs11550699	0.346446	0.3062	0.3797	0.08	1	13	exonic	exonic	exonic	EFHD1	EFHD1	ENSG00000115468	nonsynonymous SNV	nonsynonymous SNV	unknown	EFHD1:NM_025202:exon3:c.A557G:p.K186R,EFHD1:NM_001243252:exon3:c.A269G:p.K90R,	EFHD1:uc002vtc.3:exon3:c.A557G:p.K186R,EFHD1:uc010fyf.3:exon3:c.A269G:p.K90R,EFHD1:uc002vtd.3:exon2:c.A221G:p.K74R,	UNKNOWN	Het;A>G	843;67|40	Hom;A>G	2403;0|86
N	N	-	2	233562197	233562197	T	C	snp	intronic	 	 	 	 	GIGYF2	Gigyf2	ENSG00000204120	GRB10 interacting GYF protein 2	chr2:233562009-233725285	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Tobacco Use Disorder; Parkinson's disease ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality.  Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.		GO:0007631;feeding behavior;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009791;post-embryonic development;IEA|GO:0016441;posttranscriptional gene silencing;IDA|GO:0017148;negative regulation of translation;IMP|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IEA|GO:0035264;multicellular organism growth;IEA|GO:0044267;cellular protein metabolic process;IEA|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0061157;mRNA destabilization;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA|GO:0043204;perikaryon;IDA|GO:1990635;proximal dendrite;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GIGYF2		https://hpo.jax.org/app/browse/search?q=GIGYF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612003	http://www.informatics.jax.org/searchtool/Search.do?query=GIGYF2&submit=Quick%0D%17203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GIGYF2	rs4144797	0.801318	0	0	1	0	0	intronic	intronic	intronic	GIGYF2	GIGYF2	ENSG00000204120	Na	Na	Na	Na	Na	Na	Het;T>C	199;5|8	Hom;T>C	192;0|6
N	N	-	2	233562210	233562210	T	C	snp	intronic	 	 	 	 	GIGYF2	Gigyf2	ENSG00000204120	GRB10 interacting GYF protein 2	chr2:233562009-233725285	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Tobacco Use Disorder; Parkinson's disease ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality.  Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.		GO:0007631;feeding behavior;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009791;post-embryonic development;IEA|GO:0016441;posttranscriptional gene silencing;IDA|GO:0017148;negative regulation of translation;IMP|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IEA|GO:0035264;multicellular organism growth;IEA|GO:0044267;cellular protein metabolic process;IEA|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0061157;mRNA destabilization;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA|GO:0043204;perikaryon;IDA|GO:1990635;proximal dendrite;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GIGYF2		https://hpo.jax.org/app/browse/search?q=GIGYF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612003	http://www.informatics.jax.org/searchtool/Search.do?query=GIGYF2&submit=Quick%0D%17203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GIGYF2	rs4144796	0.516174	0	0	1	0	0	intronic	intronic	intronic	GIGYF2	GIGYF2	ENSG00000204120	Na	Na	Na	Na	Na	Na	Het;T>C	114;4|5	Hom;T>C	173;0|5
N	N	-	2	233599904	233599904	A	C	snp	UTR5	-4A>C	 	 	 	GIGYF2	Gigyf2	ENSG00000204120	GRB10 interacting GYF protein 2	chr2:233562009-233725285	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Tobacco Use Disorder; Parkinson's disease ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality.  Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.		GO:0007631;feeding behavior;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009791;post-embryonic development;IEA|GO:0016441;posttranscriptional gene silencing;IDA|GO:0017148;negative regulation of translation;IMP|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IEA|GO:0035264;multicellular organism growth;IEA|GO:0044267;cellular protein metabolic process;IEA|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0061157;mRNA destabilization;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA|GO:0043204;perikaryon;IDA|GO:1990635;proximal dendrite;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GIGYF2		https://hpo.jax.org/app/browse/search?q=GIGYF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612003	http://www.informatics.jax.org/searchtool/Search.do?query=GIGYF2&submit=Quick%0D%17203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GIGYF2	rs11555646	0.359425	0.3207	0.3578	1	0	0	UTR5	UTR5	UTR5	GIGYF2(NM_001103146:c.-4A>C,NM_015575:c.-4A>C,NM_001103148:c.-4A>C,NM_001103147:c.-4A>C)	GIGYF2(uc010zmj.1:c.-4A>C,uc002vtg.2:c.-4A>C,uc002vti.4:c.-4A>C,uc002vtj.4:c.-4A>C,uc002vtk.4:c.-4A>C,uc002vth.4:c.-4A>C)	ENSG00000204120(ENST00000373566:c.-4A>C,ENST00000427233:c.-4A>C,ENST00000373563:c.-4A>C,ENST00000428883:c.-4A>C,ENST00000409480:c.-4A>C,ENST00000456491:c.-4A>C,ENST00000409547:c.-4A>C,ENST00000430720:c.-4A>C,ENST00000425040:c.-4A>C,ENST00000421433:c.-4A>C,ENST00000423659:c.-4A>C,ENST00000409196:c.-4A>C,ENST00000409451:c.-4A>C,ENST00000440945:c.-4A>C,ENST00000429187:c.-4A>C,ENST00000424038:c.-4A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	2417;188|120	Hom;A>C	6733;1|247
N	N	-	2	233600606	233600606	A	G	snp	intronic	 	 	 	 	GIGYF2	Gigyf2	ENSG00000204120	GRB10 interacting GYF protein 2	chr2:233562009-233725285	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Tobacco Use Disorder; Parkinson's disease ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality.  Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.		GO:0007631;feeding behavior;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009791;post-embryonic development;IEA|GO:0016441;posttranscriptional gene silencing;IDA|GO:0017148;negative regulation of translation;IMP|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IEA|GO:0035264;multicellular organism growth;IEA|GO:0044267;cellular protein metabolic process;IEA|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0061157;mRNA destabilization;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA|GO:0043204;perikaryon;IDA|GO:1990635;proximal dendrite;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GIGYF2		https://hpo.jax.org/app/browse/search?q=GIGYF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612003	http://www.informatics.jax.org/searchtool/Search.do?query=GIGYF2&submit=Quick%0D%17203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GIGYF2	rs13013142	0.359425	0	0	1	0	0	intronic	intronic	intronic	GIGYF2	GIGYF2	ENSG00000204120	Na	Na	Na	Na	Na	Na	Het;A>G	1417;69|60	Hom;A>G	3755;1|128
N	N	-	2	233612557	233612557	C	T	snp	intronic	 	 	 	 	GIGYF2	Gigyf2	ENSG00000204120	GRB10 interacting GYF protein 2	chr2:233562009-233725285	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Tobacco Use Disorder; Parkinson's disease ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality.  Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.		GO:0007631;feeding behavior;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009791;post-embryonic development;IEA|GO:0016441;posttranscriptional gene silencing;IDA|GO:0017148;negative regulation of translation;IMP|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IEA|GO:0035264;multicellular organism growth;IEA|GO:0044267;cellular protein metabolic process;IEA|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0061157;mRNA destabilization;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA|GO:0043204;perikaryon;IDA|GO:1990635;proximal dendrite;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GIGYF2		https://hpo.jax.org/app/browse/search?q=GIGYF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612003	http://www.informatics.jax.org/searchtool/Search.do?query=GIGYF2&submit=Quick%0D%17203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GIGYF2	rs3817311	0.359225	0	0	1	0	0	intronic	intronic	intronic	GIGYF2	GIGYF2	ENSG00000204120	Na	Na	Na	Na	Na	Na	Het;C>T	134;6|6	Hom;C>T	657;0|23
N	N	-	2	233633460	233633460	G	A	snp	nonsynonymous SNV	C284T	T95I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KCNJ13	Kcnj13	ENSG00000115474	potassium voltage-gated channel subfamily J member 13	chr2:233631174-233641278	This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]	Celiac Disease|	Homozygous mutant null mice die shortly after birth, exhibit cleft palate and pulmonary abnormalities in embryonic lungs.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005242;inward rectifier potassium channel activity;NAS|GO:0005244;voltage-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ13	https://www.uniprot.org/uniprot/O60928	https://hpo.jax.org/app/browse/search?q=KCNJ13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603208	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ13&submit=Quick%0D%4610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ13	rs1801251	0.360024	0.3213	0.3548	0.15	2	13	exonic	exonic	exonic	KCNJ13	KCNJ13	ENSG00000115474	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNJ13:NM_001172417:exon3:c.C284T:p.T95I,KCNJ13:NM_002242:exon3:c.C524T:p.T175I,	KCNJ13:uc002vto.3:exon2:c.C524T:p.T175I,KCNJ13:uc021vyk.1:exon3:c.C284T:p.T95I,KCNJ13:uc002vtp.3:exon3:c.C524T:p.T175I,	UNKNOWN	Het;G>A	1280;59|63	Hom;G>A	3252;0|121
N	N	-	2	233641083	233641083	G	C	snp	intronic	 	 	 	 	GIGYF2	Gigyf2	ENSG00000204120	GRB10 interacting GYF protein 2	chr2:233562009-233725285	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Tobacco Use Disorder; Parkinson's disease ; Parkinson's disease	Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality.  Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.		GO:0007631;feeding behavior;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009791;post-embryonic development;IEA|GO:0016441;posttranscriptional gene silencing;IDA|GO:0017148;negative regulation of translation;IMP|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IEA|GO:0035264;multicellular organism growth;IEA|GO:0044267;cellular protein metabolic process;IEA|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0061157;mRNA destabilization;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA|GO:0043204;perikaryon;IDA|GO:1990635;proximal dendrite;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GIGYF2		https://hpo.jax.org/app/browse/search?q=GIGYF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612003	http://www.informatics.jax.org/searchtool/Search.do?query=GIGYF2&submit=Quick%0D%17203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GIGYF2	rs737027	0.687101	0.6620	0.6830	1	0	0	intronic	intronic	intronic	GIGYF2,KCNJ13	GIGYF2,KCNJ13	ENSG00000115474,ENSG00000204120	Na	Na	Na	Na	Na	Na	Het;G>C	915;35|39	Hom;G>C	1915;0|64
N	N	-	2	233899126	233899126	C	A	snp	nonsynonymous SNV	C502A	H168N	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NEU2	Neu2	ENSG00000115488	neuraminidase 2	chr2:233897382-233899767	This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]	longevity; Forced Vital Capacity	 	Sialic acid metabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IDA|GO:0016042;lipid catabolic process;IEA|GO:0051692;cellular oligosaccharide catabolic process;IDA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:1902494;catalytic complex;IDA	GO:0004308;exo-alpha-sialidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0052794;exo-alpha-(2->3)-sialidase activity;IDA|GO:0052795;exo-alpha-(2->6)-sialidase activity;IEA|GO:0052796;exo-alpha-(2->8)-sialidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEU2	https://www.uniprot.org/uniprot/Q9Y3R4		https://www.ncbi.nlm.nih.gov/omim/?term=605528	http://www.informatics.jax.org/searchtool/Search.do?query=NEU2&submit=Quick%0D%4613ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEU2	rs2233391	0.232029	0.3884	0.3765	0.23	3	13	exonic	exonic	exonic	NEU2	NEU2	ENSG00000115488	nonsynonymous SNV	nonsynonymous SNV	unknown	NEU2:NM_005383:exon2:c.C502A:p.H168N,	NEU2:uc010zmn.2:exon2:c.C502A:p.H168N,	UNKNOWN	Het;C>A	2611;157|132	Hom;C>A	6625;4|249
N	N	-	2	234102738	234102738	G	T	snp	intronic	 	 	 	 	INPP5D	Inpp5d	ENSG00000281614	inositol polyphosphate-5-phosphatase D	chr2:233924677-234116549	This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Tobacco Use Disorder	Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration anddefective cytolysis by NK cells and CTLs.	Interleukin receptor SHC signaling	GO:0002376;immune system process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA	GO:0004445;inositol-polyphosphate 5-phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0034485;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP5D			https://www.ncbi.nlm.nih.gov/omim/?term=601582	http://www.informatics.jax.org/searchtool/Search.do?query=INPP5D&submit=Quick%0D%22319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5D	rs11681058	0.369409	0	0	1	0	0	intronic	intronic	intronic	INPP5D	INPP5D	ENSG00000168918	Na	Na	Na	Na	Na	Na	Het;G>T	64;1|3	Hom;G>T	138;0|5
N	N	-	2	234113396	234113396	T	TTG	indel	unknown	 	 	 	 	INPP5D	Inpp5d	ENSG00000281614	inositol polyphosphate-5-phosphatase D	chr2:233924677-234116549	This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Tobacco Use Disorder	Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration anddefective cytolysis by NK cells and CTLs.	Interleukin receptor SHC signaling	GO:0002376;immune system process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA	GO:0004445;inositol-polyphosphate 5-phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0034485;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP5D			https://www.ncbi.nlm.nih.gov/omim/?term=601582	http://www.informatics.jax.org/searchtool/Search.do?query=INPP5D&submit=Quick%0D%22319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5D	rs33926881	0.110024	0.1495	0.1598	1	0	0	intronic	intronic	exonic	INPP5D	INPP5D	ENSG00000168918	Na	Na	unknown	Na	Na	UNKNOWN	Het;+TG	724;27|24	Hom;+TG	1507;2|56
N	N	-	2	234203029	234203029	C	T	snp	UTR3	*33C>T	 	 	 	ATG16L1	Atg16l1	ENSG00000281089	autophagy related 16 like 1	chr2:234118697-234204320	The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]	Crohn Disease; Crohn Disease|; Inflammatory Bowel Diseases; Crohn Disease|Rectal Fistula; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease|Growth Disorders; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's; inflammatory bowel disease ; Celiac Disease|Colitis, Ulcerative|Crohn Disease; Crohn's disease ulcerative colitis,Crohn's disease; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn's disease ulcerative colitis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease|Granuloma|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn's disease ; Crohn Disease|Crohn's disease; Chronic progressive chorea|Huntington Disease; Colitis, Ulcerative|Crohn Disease|; Colitis, Ulcerative|Crohn Disease; Crohn's disease	Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period.  Mice homozygous for hypomorphic alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease.	Macroautophagy	GO:0000045;autophagosome assembly;NAS|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0039689;negative stranded viral RNA replication;IBA|GO:0051260;protein homooligomerization;NAS	GO:0000421;autophagosome membrane;IBA|GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;ISS|GO:0005829;cytosol;TAS|GO:0005930;axoneme;ISS|GO:0016020;membrane;IEA|GO:0034045;pre-autophagosomal structure membrane;IEA	GO:0005515;protein binding;IPI|GO:0019787;ubiquitin-like protein transferase activity;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATG16L1	https://www.uniprot.org/uniprot/Q676U5		https://www.ncbi.nlm.nih.gov/omim/?term=610767	http://www.informatics.jax.org/searchtool/Search.do?query=ATG16L1&submit=Quick%0D%22269ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG16L1	rs150308544	0.00179712	0.0039	0.0039	1	0	0	UTR3	UTR3	UTR3	ATG16L1(NM_001190267:c.*33C>T,NM_001190266:c.*33C>T,NM_030803:c.*33C>T,NM_198890:c.*33C>T,NM_017974:c.*33C>T)	ATG16L1(uc021vyl.1:c.*33C>T,uc002vub.3:c.*33C>T,uc002vtz.3:c.*33C>T,uc002vty.3:c.*33C>T,uc002vud.4:c.*33C>T,uc002vua.3:c.*33C>T,uc002vtx.2:c.*33C>T)	ENSG00000085978(ENST00000347464:c.*33C>T,ENST00000392017:c.*33C>T,ENST00000373525:c.*33C>T,ENST00000392021:c.*1738C>T,ENST00000392020:c.*33C>T,ENST00000392018:c.*33C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	350;25|20	Hom;C>T	1366;0|54
N	N	-	2	234297156	234297156	T	C	snp	ncRNA_intronic	 	 	 	 	ENSG00000243637																		rs838719	0.290136	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DGKD	DGKD	ENSG00000243637	Na	Na	Na	Na	Na	Na	Het;T>C	307;11|14	Hom;T>C	741;0|25
N	N	-	2	234370840	234370840	G	A	snp	intronic	 	 	 	 	DGKD	Dgkd	ENSG00000280873	diacylglycerol kinase delta	chr2:234263153-234380750	This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Calcium; Tobacco Use Disorder	Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors.	Effects of PIP2 hydrolysis	GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;NAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;NAS|GO:0007275;multicellular organism development;NAS|GO:0008152;metabolic process;IEA|GO:0010033;response to organic substance;IDA|GO:0015031;protein transport;IEA|GO:0016049;cell growth;NAS|GO:0016310;phosphorylation;IEA|GO:0019932;second-messenger-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0046339;diacylglycerol metabolic process;IC|GO:0046834;lipid phosphorylation;TAS|GO:0051260;protein homooligomerization;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DGKD	https://www.uniprot.org/uniprot/Q16760		https://www.ncbi.nlm.nih.gov/omim/?term=601826	http://www.informatics.jax.org/searchtool/Search.do?query=DGKD&submit=Quick%0D%22249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKD	rs75282444	0.0153754	0	0	1	0	0	intronic	intronic	intronic	DGKD	DGKD	ENSG00000077044	Na	Na	Na	Na	Na	Na	Het;G>A	52;6|3	Hom;G>A	113;0|4
N	N	-	2	234438246	234438246	C	CT	indel	intronic	 	 	 	 	USP40	Usp40	ENSG00000085982	ubiquitin specific peptidase 40	chr2:234384166-234475428	Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]	Bilirubin; Parkinson's disease	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP40	https://www.uniprot.org/uniprot/Q9NVE5		https://www.ncbi.nlm.nih.gov/omim/?term=610570	http://www.informatics.jax.org/searchtool/Search.do?query=USP40&submit=Quick%0D%1909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP40	rs397798564	0.797125	0	0	1	0	0	intronic	intronic	intronic	USP40	USP40	ENSG00000085982	Na	Na	Na	Na	Na	Na	Het;+T	461;28|17	Hom;+T	935;0|26
N	N	-	2	234442437	234442438	CA	C	indel	intronic	 	 	 	 	USP40	Usp40	ENSG00000085982	ubiquitin specific peptidase 40	chr2:234384166-234475428	Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]	Bilirubin; Parkinson's disease	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP40	https://www.uniprot.org/uniprot/Q9NVE5		https://www.ncbi.nlm.nih.gov/omim/?term=610570	http://www.informatics.jax.org/searchtool/Search.do?query=USP40&submit=Quick%0D%1909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP40	rs11332355	0.822883	0	0.7622	1	0	0	intronic	intronic	intronic	USP40	USP40	ENSG00000085982	Na	Na	Na	Na	Na	Na	Het;-A	511;9|27	Hom;-A	703;1|32
N	N	-	2	234449316	234449316	G	A	snp	synonymous SNV	C1195T	L399L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	USP40	Usp40	ENSG00000085982	ubiquitin specific peptidase 40	chr2:234384166-234475428	Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]	Bilirubin; Parkinson's disease	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP40	https://www.uniprot.org/uniprot/Q9NVE5		https://www.ncbi.nlm.nih.gov/omim/?term=610570	http://www.informatics.jax.org/searchtool/Search.do?query=USP40&submit=Quick%0D%1909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP40	rs2167884	0.819888	0.7860	0.8091	1	0	0	exonic	exonic	exonic	USP40	USP40	ENSG00000085982	synonymous SNV	synonymous SNV	unknown	USP40:NM_018218:exon9:c.C1195T:p.L399L,	USP40:uc010zmr.2:exon9:c.C1195T:p.L399L,USP40:uc010zmt.1:exon3:c.C127T:p.L43L,	UNKNOWN	Het;G>A	529;54|28	Hom;G>A	2177;2|84
N	N	-	2	234449462	234449462	T	C	snp	intronic	 	 	 	 	USP40	Usp40	ENSG00000085982	ubiquitin specific peptidase 40	chr2:234384166-234475428	Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]	Bilirubin; Parkinson's disease	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP40	https://www.uniprot.org/uniprot/Q9NVE5		https://www.ncbi.nlm.nih.gov/omim/?term=610570	http://www.informatics.jax.org/searchtool/Search.do?query=USP40&submit=Quick%0D%1909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP40	rs1545525	0.763379	0.7397	0.7949	1	0	0	intronic	intronic	intronic	USP40	USP40	ENSG00000085982	Na	Na	Na	Na	Na	Na	Het;T>C	245;16|10	Hom;T>C	590;0|19
N	N	-	2	234450822	234450822	T	C	snp	intronic	 	 	 	 	USP40	Usp40	ENSG00000085982	ubiquitin specific peptidase 40	chr2:234384166-234475428	Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]	Bilirubin; Parkinson's disease	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP40	https://www.uniprot.org/uniprot/Q9NVE5		https://www.ncbi.nlm.nih.gov/omim/?term=610570	http://www.informatics.jax.org/searchtool/Search.do?query=USP40&submit=Quick%0D%1909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP40	rs1901812	0.844449	0	0	1	0	0	intronic	intronic	intronic	USP40	USP40	ENSG00000085982	Na	Na	Na	Na	Na	Na	Het;T>C	33;4|2	Hom;T>C	217;0|6
N	N	-	2	234457900	234457900	T	A	snp	intronic	 	 	 	 	USP40	Usp40	ENSG00000085982	ubiquitin specific peptidase 40	chr2:234384166-234475428	Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]	Bilirubin; Parkinson's disease	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP40	https://www.uniprot.org/uniprot/Q9NVE5		https://www.ncbi.nlm.nih.gov/omim/?term=610570	http://www.informatics.jax.org/searchtool/Search.do?query=USP40&submit=Quick%0D%1909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP40	rs3965793	0.591054	0.5764	0.6748	1	0	0	intronic	intronic	intronic	USP40	USP40	ENSG00000085982	Na	Na	Na	Na	Na	Na	Het;T>A	65;16|5	Hom;T>A	1145;0|44
N	N	-	2	234474288	234474288	A	C	snp	upstream	 	 	 	 	USP40	Usp40	ENSG00000085982	ubiquitin specific peptidase 40	chr2:234384166-234475428	Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]	Bilirubin; Parkinson's disease	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP40	https://www.uniprot.org/uniprot/Q9NVE5		https://www.ncbi.nlm.nih.gov/omim/?term=610570	http://www.informatics.jax.org/searchtool/Search.do?query=USP40&submit=Quick%0D%1909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP40	rs530468513	0.00119808	0	0	1	0	0	upstream	intronic	intronic	USP40	USP40	ENSG00000085982	Na	Na	Na	Na	Na	Na	Het;A>C	108;4|5	Hom;A>C	544;0|18
N	N	-	2	234702520	234702520	C	T	snp	intronic	 	 	 	 	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs17868350	0.103035	0	0.0873	1	0	0	intronic	intergenic	intronic	MROH2A	DQ655968(dist=14092),HEATR7B1(dist=34681)	ENSG00000185038	Na	Na	Na	Na	Na	Na	Het;C>T	128;28|10	Hom;C>T	907;0|32
N	N	-	2	234712921	234712921	G	A	snp	intronic	 	 	 	 	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs10175949	0.890575	0	0	1	0	0	intronic	intergenic	intronic	MROH2A	DQ655968(dist=24493),HEATR7B1(dist=24280)	ENSG00000185038	Na	Na	Na	Na	Na	Na	Het;G>A	458;40|22	Hom;G>A	1313;0|47
N	N	-	2	234713812	234713812	G	T	snp	intronic	 	 	 	 	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs2041651	0.811502	0	0	1	0	0	intronic	intergenic	intronic	MROH2A	DQ655968(dist=25384),HEATR7B1(dist=23389)	ENSG00000185038	Na	Na	Na	Na	Na	Na	Het;G>T	456;36|25	Hom;G>T	1316;0|52
N	N	-	2	234717669	234717669	A	G	snp	intronic	 	 	 	 	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs10803663	0.698482	0	0	1	0	0	intronic	intergenic	intronic	MROH2A	DQ655968(dist=29241),HEATR7B1(dist=19532)	ENSG00000185038	Na	Na	Na	Na	Na	Na	Het;A>G	269;5|11	Hom;A>G	197;0|7
N	N	-	2	234720734	234720734	A	C	snp	intronic	 	 	 	 	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs988344	0.874601	0	0	1	0	0	intronic	intergenic	intronic	MROH2A	DQ655968(dist=32306),HEATR7B1(dist=16467)	ENSG00000185038	Na	Na	Na	Na	Na	Na	Het;A>C	92;10|5	Hom;A>C	346;0|11
N	N	-	2	234725502	234725502	T	C	snp	nonsynonymous SNV	T2941C	W981R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs726016	0.828874	0	0.8513	0.10	1	10	exonic	intergenic	exonic	MROH2A	DQ655968(dist=37074),HEATR7B1(dist=11699)	ENSG00000185038	nonsynonymous SNV	Na	unknown	MROH2A:NM_001287395:exon27:c.T2941C:p.W981R,	Na	UNKNOWN	Het;T>C	570;36|28	Hom;T>C	1567;0|58
N	N	-	2	234727250	234727250	T	G	snp	intronic	 	 	 	 	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs719419	0.486621	0	0.7014	1	0	0	intronic	intergenic	intronic	MROH2A	DQ655968(dist=38822),HEATR7B1(dist=9951)	ENSG00000185038	Na	Na	Na	Na	Na	Na	Het;T>G	505;21|23	Hom;T>G	1020;0|36
N	N	-	2	234727986	234727986	C	T	snp	synonymous SNV	C3237T	C1079C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs6754859	0.489417	0	0.6949	1	0	0	exonic	intergenic	exonic	MROH2A	DQ655968(dist=39558),HEATR7B1(dist=9215)	ENSG00000185038	synonymous SNV	Na	unknown	MROH2A:NM_001287395:exon30:c.C3237T:p.C1079C,	Na	UNKNOWN	Het;C>T	770;32|35	Hom;C>T	1329;0|51
N	N	-	2	234728078	234728078	T	C	snp	nonsynonymous SNV	T3329C	F1110S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	MROH2A	Mroh2a	ENSG00000185038	maestro heat like repeat family member 2A	chr2:234684370-234742069	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH2A				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A	rs1500480	0.825879	0	0.8424	0.09	1	11	exonic	intergenic	exonic	MROH2A	DQ655968(dist=39650),HEATR7B1(dist=9123)	ENSG00000185038	nonsynonymous SNV	Na	unknown	MROH2A:NM_001287395:exon30:c.T3329C:p.F1110S,	Na	UNKNOWN	Het;T>C	843;53|42	Hom;T>C	1755;0|63
N	N	-	2	234750542	234750542	G	C	snp	nonsynonymous SNV	C629G	S210C	polar,hydrophilic,neutral	polar,hydrophobic,neutral	HJURP	Hjurp	ENSG00000123485	Holliday junction recognition protein	chr2:234742062-234763212			 	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA	GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HJURP	https://www.uniprot.org/uniprot/Q8NCD3		https://www.ncbi.nlm.nih.gov/omim/?term=612667	http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP	rs3732215	0.349641	0.4074	0.4694	0.08	1	13	exonic	exonic	exonic	HJURP	HJURP	ENSG00000123485	nonsynonymous SNV	nonsynonymous SNV	unknown	HJURP:NM_001282963:exon5:c.C629G:p.S210C,HJURP:NM_018410:exon8:c.C884G:p.S295C,HJURP:NM_001282962:exon6:c.C722G:p.S241C,	HJURP:uc002vvg.3:exon8:c.C884G:p.S295C,HJURP:uc010znd.2:exon6:c.C701G:p.S234C,HJURP:uc010zne.2:exon5:c.C608G:p.S203C,	UNKNOWN	Het;G>C	1025;80|49	Hom;G>C	3516;0|124
N	N	-	2	234750831	234750831	T	C	snp	nonsynonymous SNV	A340G	R114G	polar,hydrophilic,charged(+)	aliphatic,neutral	HJURP	Hjurp	ENSG00000123485	Holliday junction recognition protein	chr2:234742062-234763212			 	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA	GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HJURP	https://www.uniprot.org/uniprot/Q8NCD3		https://www.ncbi.nlm.nih.gov/omim/?term=612667	http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP	rs3806589	0.711661	0.6668	0.6395	0.08	1	13	exonic	exonic	exonic	HJURP	HJURP	ENSG00000123485	nonsynonymous SNV	nonsynonymous SNV	unknown	HJURP:NM_001282963:exon5:c.A340G:p.R114G,HJURP:NM_018410:exon8:c.A595G:p.R199G,HJURP:NM_001282962:exon6:c.A433G:p.R145G,	HJURP:uc002vvg.3:exon8:c.A595G:p.R199G,HJURP:uc010znd.2:exon6:c.A412G:p.R138G,HJURP:uc010zne.2:exon5:c.A319G:p.R107G,	UNKNOWN	Het;T>C	923;52|39	Hom;T>C	2339;0|87
N	N	-	2	234754506	234754506	G	A	snp	intronic	 	 	 	 	HJURP	Hjurp	ENSG00000123485	Holliday junction recognition protein	chr2:234742062-234763212			 	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA	GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HJURP	https://www.uniprot.org/uniprot/Q8NCD3		https://www.ncbi.nlm.nih.gov/omim/?term=612667	http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP	rs2302155	0.347045	0.3938	0.4574	1	0	0	intronic	intronic	intronic	HJURP	HJURP	ENSG00000123485	Na	Na	Na	Na	Na	Na	Het;G>A	451;15|22	Hom;G>A	860;0|31
N	N	-	2	234761225	234761225	C	T	snp	nonsynonymous SNV	G226A	E76K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	HJURP	Hjurp	ENSG00000123485	Holliday junction recognition protein	chr2:234742062-234763212			 	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA	GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HJURP	https://www.uniprot.org/uniprot/Q8NCD3		https://www.ncbi.nlm.nih.gov/omim/?term=612667	http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP	rs2286430	0.346046	0.3930	0.4553	0.08	1	13	exonic	exonic	exonic	HJURP	HJURP	ENSG00000123485	nonsynonymous SNV	nonsynonymous SNV	unknown	HJURP:NM_001282963:exon3:c.G226A:p.E76K,HJURP:NM_018410:exon3:c.G226A:p.E76K,HJURP:NM_001282962:exon3:c.G226A:p.E76K,	HJURP:uc002vvg.3:exon3:c.G226A:p.E76K,HJURP:uc010znd.2:exon3:c.G205A:p.E69K,HJURP:uc010zne.2:exon3:c.G205A:p.E69K,	UNKNOWN	Het;C>T	492;57|28	Hom;C>T	1754;0|69
N	N	-	2	234762738	234762738	A	T	snp	intronic	 	 	 	 	HJURP	Hjurp	ENSG00000123485	Holliday junction recognition protein	chr2:234742062-234763212			 	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA	GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HJURP	https://www.uniprot.org/uniprot/Q8NCD3		https://www.ncbi.nlm.nih.gov/omim/?term=612667	http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP	rs917433	0.349441	0	0	1	0	0	intronic	intronic	intronic	HJURP	HJURP	ENSG00000123485	Na	Na	Na	Na	Na	Na	Het;A>T	67;2|3	Hom;A>T	185;0|6
N	N	-	2	234762924	234762924	C	G	snp	intronic	 	 	 	 	HJURP	Hjurp	ENSG00000123485	Holliday junction recognition protein	chr2:234742062-234763212			 	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA	GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HJURP	https://www.uniprot.org/uniprot/Q8NCD3		https://www.ncbi.nlm.nih.gov/omim/?term=612667	http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP	rs917432	0.387979	0	0	1	0	0	intronic	intronic	intronic	HJURP	HJURP	ENSG00000123485	Na	Na	Na	Na	Na	Na	Het;C>G	75;2|4	Hom;C>G	325;0|12
N	N	-	2	234862669	234862669	T	C	snp	ncRNA_intronic	 	 	 	 	AC005538.1																		rs190557049	0.00199681	0.0020	0.0041	1	0	0	intronic	intronic	ncRNA_intronic	TRPM8	TRPM8	ENSG00000237581	Na	Na	Na	Na	Na	Na	Het;T>C	996;24|38	Hom;T>C	1666;1|58
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	235604498	235604498	G	GT	indel	intergenic	 	 	 	 	ARL4C	Arl4c	ENSG00000188042	ADP ribosylation factor like GTPase 4C	chr2:235401685-235405697	ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0032456;endocytic recycling;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030175;filopodium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0043014;alpha-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARL4C			https://www.ncbi.nlm.nih.gov/omim/?term=604787	http://www.informatics.jax.org/searchtool/Search.do?query=ARL4C&submit=Quick%0D%15955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL4C	rs34182234	0.39377	0	0	1	0	0	intergenic	intergenic	intergenic	ARL4C(dist=198801),SH3BP4(dist=256130)	ARL4C(dist=198805),AF279775(dist=187354)	ENSG00000188042(dist=198801),ENSG00000235726(dist=138461)	Na	Na	Na	Na	Na	Na	Het;+T	109;1|7	Hom;+T	106;0|6
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	235676431	235676431	A	G	snp	intergenic	 	 	 	 	ARL4C	Arl4c	ENSG00000188042	ADP ribosylation factor like GTPase 4C	chr2:235401685-235405697	ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0032456;endocytic recycling;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030175;filopodium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0043014;alpha-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARL4C			https://www.ncbi.nlm.nih.gov/omim/?term=604787	http://www.informatics.jax.org/searchtool/Search.do?query=ARL4C&submit=Quick%0D%15955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL4C	rs7571734	0.320088	0	0	1	0	0	intergenic	intergenic	intergenic	ARL4C(dist=270734),SH3BP4(dist=184197)	ARL4C(dist=270738),AF279775(dist=115421)	ENSG00000188042(dist=270734),ENSG00000235726(dist=66528)	Na	Na	Na	Na	Na	Na	Het;A>G	241;20|12	Hom;A>G	873;0|29
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	235676568	235676568	A	C	snp	intergenic	 	 	 	 	ARL4C	Arl4c	ENSG00000188042	ADP ribosylation factor like GTPase 4C	chr2:235401685-235405697	ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0032456;endocytic recycling;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030175;filopodium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0043014;alpha-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARL4C			https://www.ncbi.nlm.nih.gov/omim/?term=604787	http://www.informatics.jax.org/searchtool/Search.do?query=ARL4C&submit=Quick%0D%15955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL4C	rs7574558	0.324081	0	0	1	0	0	intergenic	intergenic	intergenic	ARL4C(dist=270871),SH3BP4(dist=184060)	ARL4C(dist=270875),AF279775(dist=115284)	ENSG00000188042(dist=270871),ENSG00000235726(dist=66391)	Na	Na	Na	Na	Na	Na	Het;A>C	384;16|18	Hom;A>C	850;0|28
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	235676615	235676615	T	C	snp	intergenic	 	 	 	 	ARL4C	Arl4c	ENSG00000188042	ADP ribosylation factor like GTPase 4C	chr2:235401685-235405697	ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0032456;endocytic recycling;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030175;filopodium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0043014;alpha-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARL4C			https://www.ncbi.nlm.nih.gov/omim/?term=604787	http://www.informatics.jax.org/searchtool/Search.do?query=ARL4C&submit=Quick%0D%15955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL4C	rs7577469	0.317692	0	0	1	0	0	intergenic	intergenic	intergenic	ARL4C(dist=270918),SH3BP4(dist=184013)	ARL4C(dist=270922),AF279775(dist=115237)	ENSG00000188042(dist=270918),ENSG00000235726(dist=66344)	Na	Na	Na	Na	Na	Na	Het;T>C	218;5|10	Hom;T>C	253;0|10
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	235950187	235950187	T	C	snp	synonymous SNV	T774C	D258D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SH3BP4	Sh3bp4	ENSG00000130147	SH3 domain binding protein 4	chr2:235860617-235964358	This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]	Cleft Palate; Heart Rate; Tobacco Use Disorder; Glucose; Diabetes Mellitus, Type 2; Magnesium; Body Height; Blood Pressure	 		GO:0006897;endocytosis;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0030308;negative regulation of cell growth;IMP|GO:0032007;negative regulation of TOR signaling;IMP|GO:0034260;negative regulation of GTPase activity;IDA|GO:0050790;regulation of catalytic activity;IMP|GO:0061462;protein localization to lysosome;IMP|GO:0071230;cellular response to amino acid stimulus;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0005092;GDP-dissociation inhibitor activity;IMP|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SH3BP4	https://www.uniprot.org/uniprot/Q9P0V3		https://www.ncbi.nlm.nih.gov/omim/?term=605611	http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP4&submit=Quick%0D%6317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP4	rs1469375	0.721845	0.5676	0.5622	1	0	0	exonic	exonic	exonic	SH3BP4	SH3BP4	ENSG00000130147	synonymous SNV	synonymous SNV	unknown	SH3BP4:NM_014521:exon4:c.T774C:p.D258D,	SH3BP4:uc002vvp.3:exon4:c.T774C:p.D258D,SH3BP4:uc002vvq.3:exon4:c.T774C:p.D258D,SH3BP4:uc010fym.3:exon4:c.T774C:p.D258D,	UNKNOWN	Het;T>C	2625;101|126	Hom;T>C	4824;2|182
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	235951819	235951819	A	G	snp	synonymous SNV	A2406G	L802L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SH3BP4	Sh3bp4	ENSG00000130147	SH3 domain binding protein 4	chr2:235860617-235964358	This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]	Cleft Palate; Heart Rate; Tobacco Use Disorder; Glucose; Diabetes Mellitus, Type 2; Magnesium; Body Height; Blood Pressure	 		GO:0006897;endocytosis;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0030308;negative regulation of cell growth;IMP|GO:0032007;negative regulation of TOR signaling;IMP|GO:0034260;negative regulation of GTPase activity;IDA|GO:0050790;regulation of catalytic activity;IMP|GO:0061462;protein localization to lysosome;IMP|GO:0071230;cellular response to amino acid stimulus;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0005092;GDP-dissociation inhibitor activity;IMP|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SH3BP4	https://www.uniprot.org/uniprot/Q9P0V3		https://www.ncbi.nlm.nih.gov/omim/?term=605611	http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP4&submit=Quick%0D%6317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP4	rs3795962	0.752196	0.6055	0.5864	1	0	0	exonic	exonic	exonic	SH3BP4	SH3BP4	ENSG00000130147	synonymous SNV	synonymous SNV	unknown	SH3BP4:NM_014521:exon4:c.A2406G:p.L802L,	SH3BP4:uc002vvp.3:exon4:c.A2406G:p.L802L,SH3BP4:uc002vvq.3:exon4:c.A2406G:p.L802L,	UNKNOWN	Het;A>G	906;40|45	Hom;A>G	1743;1|63
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	236416245	236416245	G	A	snp	intronic	 	 	 	 	AGAP1	Agap1	ENSG00000157985	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	chr2:236402733-237040444	This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Schizophrenia; Body Mass Index; autism; Hemoglobins; Arteries; Metabolism	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0005543;phospholipid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=608651	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP1&submit=Quick%0D%10152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP1	rs885539	0.618411	0	0	1	0	0	intronic	intronic	intronic	AGAP1	AGAP1	ENSG00000157985	Na	Na	Na	Na	Na	Na	Het;G>A	397;14|19	Hom;G>A	1066;0|40
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	236716006	236716006	T	A	snp	intronic	 	 	 	 	AGAP1	Agap1	ENSG00000157985	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	chr2:236402733-237040444	This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Schizophrenia; Body Mass Index; autism; Hemoglobins; Arteries; Metabolism	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0005543;phospholipid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=608651	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP1&submit=Quick%0D%10152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP1	rs8178996	0.252796	0.3024	0.2725	1	0	0	intronic	intronic	intronic	AGAP1	AGAP1	ENSG00000157985	Na	Na	Na	Na	Na	Na	Het;T>A	571;23|27	Hom;T>A	678;0|25
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	236993269	236993269	G	A	snp	intronic	 	 	 	 	AGAP1	Agap1	ENSG00000157985	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	chr2:236402733-237040444	This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Schizophrenia; Body Mass Index; autism; Hemoglobins; Arteries; Metabolism	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0005543;phospholipid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=608651	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP1&submit=Quick%0D%10152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP1	rs59333287	0.142572	0	0	1	0	0	intronic	intronic	intronic	AGAP1	AGAP1	ENSG00000157985	Na	Na	Na	Na	Na	Na	Het;G>A	94;14|7	Hom;G>A	950;0|35
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237245218	237245218	C	CT	indel	intronic	 	 	 	 	IQCA1	Iqca	ENSG00000132321	IQ motif containing with AAA domain 1	chr2:237232794-237416185	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]		 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQCA1	https://www.uniprot.org/uniprot/Q86XH1			http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1	rs140848387	0.134984	0	0	1	0	0	intronic	intronic	intronic	IQCA1	IQCA1	ENSG00000132321	Na	Na	Na	Na	Na	Na	Het;+T	82;1|4	Hom;+T	72;0|3
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237246022	237246022	T	C	snp	intronic	 	 	 	 	IQCA1	Iqca	ENSG00000132321	IQ motif containing with AAA domain 1	chr2:237232794-237416185	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]		 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQCA1	https://www.uniprot.org/uniprot/Q86XH1			http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1	rs1869335	0.192891	0	0	1	0	0	intronic	intronic	intronic	IQCA1	IQCA1	ENSG00000132321	Na	Na	Na	Na	Na	Na	Het;T>C	53;2|4	Hom;T>C	71;0|4
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237247036	237247036	G	GA	indel	intronic	 	 	 	 	IQCA1	Iqca	ENSG00000132321	IQ motif containing with AAA domain 1	chr2:237232794-237416185	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]		 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQCA1	https://www.uniprot.org/uniprot/Q86XH1			http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1	rs111440161	0.323882	0.4077	0.3375	1	0	0	intronic	intronic	intronic	IQCA1	IQCA1	ENSG00000132321	Na	Na	Na	Na	Na	Na	Het;+A	885;45|44	Hom;+A	1604;0|60
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237279525	237279525	T	C	snp	intronic	 	 	 	 	IQCA1	Iqca	ENSG00000132321	IQ motif containing with AAA domain 1	chr2:237232794-237416185	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]		 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQCA1	https://www.uniprot.org/uniprot/Q86XH1			http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1	rs2317422	0.370208	0	0	1	0	0	intronic	intronic	intronic	IQCA1	IQCA1	ENSG00000132321	Na	Na	Na	Na	Na	Na	Het;T>C	45;1|3	Hom;T>C	107;0|5
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237285889	237285889	G	A	snp	intronic	 	 	 	 	IQCA1	Iqca	ENSG00000132321	IQ motif containing with AAA domain 1	chr2:237232794-237416185	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]		 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQCA1	https://www.uniprot.org/uniprot/Q86XH1			http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1	rs6431458	0.115615	0.1502	0	1	0	0	intronic	intronic	intronic	IQCA1	IQCA1	ENSG00000132321	Na	Na	Na	Na	Na	Na	Het;G>A	392;12|19	Hom;G>A	887;0|30
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237307967	237307967	G	A	snp	intronic	 	 	 	 	IQCA1	Iqca	ENSG00000132321	IQ motif containing with AAA domain 1	chr2:237232794-237416185	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]		 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQCA1	https://www.uniprot.org/uniprot/Q86XH1			http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1	rs6719078	0.128195	0	0	1	0	0	intronic	intronic	intronic	IQCA1	IQCA1	ENSG00000132321	Na	Na	Na	Na	Na	Na	Het;G>A	216;5|10	Hom;G>A	181;0|6
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237797529	237797529	G	A	snp	intergenic	 	 	 	 	AC084030.1																		rs10165528	0.704673	0	0	1	0	0	intergenic	intergenic	intergenic	ACKR3(dist=306535),COPS8(dist=196555)	CXCR7(dist=306535),AK056246(dist=170548)	ENSG00000232328(dist=134523),ENSG00000202341(dist=126318)	Na	Na	Na	Na	Na	Na	Het;G>A	41;2|3	Hom;G>A	326;0|13
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237797563	237797563	A	G	snp	intergenic	 	 	 	 	AC084030.1																		rs10204431	0.704473	0	0	1	0	0	intergenic	intergenic	intergenic	ACKR3(dist=306569),COPS8(dist=196521)	CXCR7(dist=306569),AK056246(dist=170514)	ENSG00000232328(dist=134557),ENSG00000202341(dist=126284)	Na	Na	Na	Na	Na	Na	Het;A>G	46;2|3	Hom;A>G	244;0|9
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237957754	237957754	G	T	snp	ncRNA_intronic	 	 	 	 	AC105760.1																		rs7597414	0.201078	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ACKR3(dist=466760),COPS8(dist=36330)	CXCR7(dist=466760),AK056246(dist=10323)	ENSG00000124835	Na	Na	Na	Na	Na	Na	Het;G>T	36;4|3	Hom;G>T	349;0|10
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237958171	237958171	G	A	snp	ncRNA_exonic	 	 	 	 	AC105760.1																		rs7597880	0.103435	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ACKR3(dist=467177),COPS8(dist=35913)	CXCR7(dist=467177),AK056246(dist=9906)	ENSG00000124835	Na	Na	Na	Na	Na	Na	Het;G>A	1543;59|72	Hom;G>A	4298;0|157
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237958310	237958310	T	A	snp	ncRNA_exonic	 	 	 	 	AC105760.1																		rs73997860	0.103435	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ACKR3(dist=467316),COPS8(dist=35774)	CXCR7(dist=467316),AK056246(dist=9767)	ENSG00000124835	Na	Na	Na	Na	Na	Na	Het;T>A	1663;112|75	Hom;T>A	5251;1|188
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237964824	237964825	AC	A	indel	upstream	 	 	 	 	AC105760.1																		rs377266799	0	0	0	1	0	0	intergenic	intergenic	upstream	ACKR3(dist=473830),COPS8(dist=29259)	CXCR7(dist=473830),AK056246(dist=3252)	ENSG00000124835	Na	Na	Na	Na	Na	Na	Het;-C	1011;28|27	Hom;-C	2103;0|48
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237964826	237964826	A	T	snp	upstream	 	 	 	 	AC105760.1																		rs60488364	0	0	0	1	0	0	intergenic	intergenic	upstream	ACKR3(dist=473832),COPS8(dist=29258)	CXCR7(dist=473832),AK056246(dist=3251)	ENSG00000124835	Na	Na	Na	Na	Na	Na	Het;A>T	1020;28|27	Hom;A>T	2112;0|48
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	237964831	237964831	C	T	snp	upstream	 	 	 	 	AC105760.1																		rs111354527	0.266773	0	0	1	0	0	intergenic	intergenic	upstream	ACKR3(dist=473837),COPS8(dist=29253)	CXCR7(dist=473837),AK056246(dist=3246)	ENSG00000124835	Na	Na	Na	Na	Na	Na	Het;C>T	982;27|26	Hom;C>T	1997;0|42
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238005370	238005371	GT	G	indel	intronic	 	 	 	 	COPS8	Cops8	ENSG00000198612	COP9 signalosome subunit 8	chr2:237993955-238009109	The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Body Height	Mice homozygous for a null allele exhibit embryonic lethality, reduced embryonic size and growth, and reduced to absent outgrowth of the inner cell mass of E3.5 embryos.	Neddylation	GO:0000338;protein deneddylation;IDA|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0007250;activation of NF-kappaB-inducing kinase activity;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010387;COP9 signalosome assembly;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008180;COP9 signalosome;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COPS8			https://www.ncbi.nlm.nih.gov/omim/?term=616011	http://www.informatics.jax.org/searchtool/Search.do?query=COPS8&submit=Quick%0D%16942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COPS8	rs11333953	0.29353	0	0	1	0	0	intronic	intronic	intronic	COPS8	COPS8	ENSG00000198612	Na	Na	Na	Na	Na	Na	Het;-T	555;14|18	Hom;-T	857;0|24
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238005572	238005572	G	A	snp	intronic	 	 	 	 	COPS8	Cops8	ENSG00000198612	COP9 signalosome subunit 8	chr2:237993955-238009109	The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Body Height	Mice homozygous for a null allele exhibit embryonic lethality, reduced embryonic size and growth, and reduced to absent outgrowth of the inner cell mass of E3.5 embryos.	Neddylation	GO:0000338;protein deneddylation;IDA|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0007250;activation of NF-kappaB-inducing kinase activity;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010387;COP9 signalosome assembly;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008180;COP9 signalosome;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COPS8			https://www.ncbi.nlm.nih.gov/omim/?term=616011	http://www.informatics.jax.org/searchtool/Search.do?query=COPS8&submit=Quick%0D%16942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COPS8	rs28631187	0.0892572	0.0997	0	1	0	0	intronic	intronic	intronic	COPS8	COPS8	ENSG00000198612	Na	Na	Na	Na	Na	Na	Het;G>A	1034;32|49	Hom;G>A	1725;0|64
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238006229	238006229	G	T	snp	intronic	 	 	 	 	COPS8	Cops8	ENSG00000198612	COP9 signalosome subunit 8	chr2:237993955-238009109	The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Body Height	Mice homozygous for a null allele exhibit embryonic lethality, reduced embryonic size and growth, and reduced to absent outgrowth of the inner cell mass of E3.5 embryos.	Neddylation	GO:0000338;protein deneddylation;IDA|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0007250;activation of NF-kappaB-inducing kinase activity;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010387;COP9 signalosome assembly;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008180;COP9 signalosome;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COPS8			https://www.ncbi.nlm.nih.gov/omim/?term=616011	http://www.informatics.jax.org/searchtool/Search.do?query=COPS8&submit=Quick%0D%16942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COPS8	rs72975809	0.0888578	0	0	1	0	0	intronic	intronic	intronic	COPS8	COPS8	ENSG00000198612	Na	Na	Na	Na	Na	Na	Het;G>T	730;17|34	Hom;G>T	1894;0|69
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238056392	238056394	CTA	C	indel	intergenic	 	 	 	 	AC107079.1																		rs10547926	0.227236	0	0	1	0	0	intergenic	intergenic	intergenic	COPS8(dist=48903),COL6A3(dist=176261)	COPS8(dist=48903),COL6A3(dist=176261)	ENSG00000224844(dist=23652),ENSG00000224132(dist=109340)	Na	Na	Na	Na	Na	Na	Het;-TA	419;16|12	Hom;-TA	1043;0|24
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238243369	238243369	G	A	snp	synonymous SNV	C1272T	R424R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs10201909	0.0708866	0.0753	0.0353	1	0	0	exonic	exonic	exonic	COL6A3	COL6A3	ENSG00000163359	synonymous SNV	synonymous SNV	unknown	COL6A3:NM_057167:exon40:c.C8511T:p.R2837R,COL6A3:NM_004369:exon41:c.C9129T:p.R3043R,COL6A3:NM_057166:exon38:c.C7308T:p.R2436R,	COL6A3:uc002vwj.2:exon5:c.C1272T:p.R424R,COL6A3:uc002vwo.2:exon40:c.C8511T:p.R2837R,COL6A3:uc002vwl.2:exon41:c.C9129T:p.R3043R,COL6A3:uc010znj.1:exon38:c.C7308T:p.R2436R,	UNKNOWN	Het;G>A	973;51|48	Hom;G>A	1576;0|63
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238253332	238253332	G	A	snp	synonymous SNV	C6711T	A2237A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs10084221	0.0708866	0.0752	0.0362	1	0	0	exonic	exonic	exonic	COL6A3	COL6A3	ENSG00000163359	synonymous SNV	synonymous SNV	unknown	COL6A3:NM_057167:exon35:c.C6711T:p.A2237A,COL6A3:NM_004369:exon36:c.C7329T:p.A2443A,COL6A3:NM_057166:exon33:c.C5508T:p.A1836A,	COL6A3:uc002vwo.2:exon35:c.C6711T:p.A2237A,COL6A3:uc002vwl.2:exon36:c.C7329T:p.A2443A,COL6A3:uc002vwp.1:exon13:c.C792T:p.A264A,COL6A3:uc010znj.1:exon33:c.C5508T:p.A1836A,	UNKNOWN	Het;G>A	1542;80|76	Hom;G>A	3920;1|146
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238253518	238253518	C	T	snp	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs6725567	0.0744808	0.0790	0.0370	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;C>T	1075;69|54	Hom;C>T	2128;2|83
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238255120	238255120	C	T	snp	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs2270656	0.202676	0.1895	0.1511	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;C>T	693;14|31	Hom;C>T	1170;0|46
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238255285	238255285	G	A	snp	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs6761147	0.0716853	0	0	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;G>A	67;4|3	Hom;G>A	98;0|4
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238256885	238256887	AGT	A	indel	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs370745420	0.0714856	0	0	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;-GT	63;2|3	Hom;-GT	413;0|10
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238256906	238256906	G	GA	indel	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs150614375	0.0617013	0	0	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;+A	213;4|7	Hom;+A	523;0|13
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238257127	238257127	C	A	snp	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs3790990	0.214257	0	0	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;C>A	350;17|16	Hom;C>A	1269;0|42
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238257353	238257353	A	G	snp	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs2646263	0.180711	0.1780	0.1479	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;A>G	1263;48|58	Hom;A>G	2128;4|85
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238261850	238261850	T	C	snp	intronic	 	 	 	 	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs2646257	0.190096	0	0	1	0	0	intronic	intronic	intronic	COL6A3	COL6A3	ENSG00000163359	Na	Na	Na	Na	Na	Na	Het;T>C	273;11|11	Hom;T>C	1221;0|35
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238262021	238262021	G	A	snp	nonsynonymous SNV	C6035T	P2012L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs36117715	0.0740815	0.0830	0.0455	0.31	4	13	exonic	exonic	exonic	COL6A3	COL6A3	ENSG00000163359	nonsynonymous SNV	nonsynonymous SNV	unknown	COL6A3:NM_057167:exon24:c.C6035T:p.P2012L,COL6A3:NM_004369:exon25:c.C6653T:p.P2218L,COL6A3:NM_057166:exon22:c.C4832T:p.P1611L,	COL6A3:uc002vwo.2:exon24:c.C6035T:p.P2012L,COL6A3:uc002vwl.2:exon25:c.C6653T:p.P2218L,COL6A3:uc002vwp.1:exon2:c.C116T:p.P39L,COL6A3:uc010znj.1:exon22:c.C4832T:p.P1611L,	UNKNOWN	Het;G>A	2408;101|117	Hom;G>A	5319;4|201
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238296355	238296355	G	A	snp	synonymous SNV	C564T	T188T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	COL6A3	Col6a3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3	rs114750216	0.00319489	0.0058	0.0058	1	0	0	exonic	exonic	exonic	COL6A3	COL6A3	ENSG00000163359	synonymous SNV	synonymous SNV	unknown	COL6A3:NM_057167:exon3:c.C564T:p.T188T,COL6A3:NM_057165:exon3:c.C564T:p.T188T,COL6A3:NM_004369:exon4:c.C1182T:p.T394T,	COL6A3:uc002vwo.2:exon3:c.C564T:p.T188T,COL6A3:uc002vwl.2:exon4:c.C1182T:p.T394T,COL6A3:uc002vwq.3:exon3:c.C564T:p.T188T,COL6A3:uc010znk.1:exon4:c.C1182T:p.T394T,	UNKNOWN	Het;G>A	1860;68|86	Hom;G>A	4210;2|157
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238428489	238428489	G	A	snp	intronic	 	 	 	 	MLPH	Mlph	ENSG00000115648	melanophilin	chr2:238394071-238463961	This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Prostatic Neoplasms	Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development.		GO:0006886;intracellular protein transport;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0030425;dendrite;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MLPH	https://www.uniprot.org/uniprot/Q9BV36	https://hpo.jax.org/app/browse/search?q=MLPH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606526	http://www.informatics.jax.org/searchtool/Search.do?query=MLPH&submit=Quick%0D%4639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLPH	rs183067946	0.00159744	0	0	1	0	0	intronic	intronic	intronic	MLPH	MLPH	ENSG00000115648	Na	Na	Na	Na	Na	Na	Het;G>A	122;8|6	Hom;G>A	346;0|13
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238454330	238454330	T	G	snp	UTR3	*114T>G	 	 	 	MLPH	Mlph	ENSG00000115648	melanophilin	chr2:238394071-238463961	This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Prostatic Neoplasms	Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development.		GO:0006886;intracellular protein transport;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0030425;dendrite;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MLPH	https://www.uniprot.org/uniprot/Q9BV36	https://hpo.jax.org/app/browse/search?q=MLPH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606526	http://www.informatics.jax.org/searchtool/Search.do?query=MLPH&submit=Quick%0D%4639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLPH	rs1320200	0.114018	0	0	1	0	0	intronic	UTR3	intronic	MLPH	MLPH(uc010fyt.1:c.*114T>G)	ENSG00000115648	Na	Na	Na	Na	Na	Na	Het;T>G	359;10|13	Hom;T>G	495;0|16
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238506737	238506737	T	C	snp	intergenic	 	 	 	 	AC104667.2																		rs58334416	0.28774	0	0	1	0	0	intergenic	intergenic	intergenic	RAB17(dist=6968),LRRFIP1(dist=29487)	RAB17(dist=6968),LRRFIP1(dist=29487)	ENSG00000234949(dist=2113),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	44;4|2	Hom;T>C	186;0|5
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238506740	238506740	T	C	snp	intergenic	 	 	 	 	AC104667.2																		rs57854264	0.29393	0	0	1	0	0	intergenic	intergenic	intergenic	RAB17(dist=6971),LRRFIP1(dist=29484)	RAB17(dist=6971),LRRFIP1(dist=29484)	ENSG00000234949(dist=2116),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	44;4|2	Hom;T>C	186;0|5
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238535966	238535966	C	T	snp	upstream;downstream	 	 	 	 	ENSG00000124831																		rs13387894	0.447684	0	0	1	0	0	upstream	upstream	upstream;downstream	LRRFIP1	LRRFIP1	ENSG00000124831;ENSG00000227107	Na	Na	Na	Na	Na	Na	Het;C>T	50;3|4	Hom;C>T	256;0|11
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238568749	238568749	G	T	snp	intronic	 	 	 	 	LRRFIP1	Lrrfip1	ENSG00000124831	LRR binding FLII interacting protein 1	chr2:238536219-238722325		Tobacco Use Disorder	 	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0008150;biological_process;ND|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IDA|GO:0003725;double-stranded RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRFIP1	https://www.uniprot.org/uniprot/Q32MZ4		https://www.ncbi.nlm.nih.gov/omim/?term=603256	http://www.informatics.jax.org/searchtool/Search.do?query=LRRFIP1&submit=Quick%0D%5726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRFIP1	rs67762939	0.223243	0	0	1	0	0	intronic	intronic	intronic	LRRFIP1	LRRFIP1	ENSG00000124831	Na	Na	Na	Na	Na	Na	Het;G>T	402;32|22	Hom;G>T	1091;0|42
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238643907	238643907	G	A	snp	intronic	 	 	 	 	LRRFIP1	Lrrfip1	ENSG00000124831	LRR binding FLII interacting protein 1	chr2:238536219-238722325		Tobacco Use Disorder	 	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0008150;biological_process;ND|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IDA|GO:0003725;double-stranded RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRFIP1	https://www.uniprot.org/uniprot/Q32MZ4		https://www.ncbi.nlm.nih.gov/omim/?term=603256	http://www.informatics.jax.org/searchtool/Search.do?query=LRRFIP1&submit=Quick%0D%5726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRFIP1	rs3769078	0.153954	0.1142	0.1551	1	0	0	intronic	intronic	intronic	LRRFIP1	LRRFIP1	ENSG00000124831	Na	Na	Na	Na	Na	Na	Het;G>A	998;47|51	Hom;G>A	2442;0|95
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238656936	238656936	A	G	snp	intronic	 	 	 	 	LRRFIP1	Lrrfip1	ENSG00000124831	LRR binding FLII interacting protein 1	chr2:238536219-238722325		Tobacco Use Disorder	 	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0008150;biological_process;ND|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IDA|GO:0003725;double-stranded RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRFIP1	https://www.uniprot.org/uniprot/Q32MZ4		https://www.ncbi.nlm.nih.gov/omim/?term=603256	http://www.informatics.jax.org/searchtool/Search.do?query=LRRFIP1&submit=Quick%0D%5726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRFIP1	rs2304431	0.391374	0.2946	0	1	0	0	intronic	intronic	intronic	LRRFIP1	LRRFIP1	ENSG00000124831	Na	Na	Na	Na	Na	Na	Het;A>G	254;10|11	Hom;A>G	687;0|25
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238659708	238659708	C	T	snp	intronic	 	 	 	 	LRRFIP1	Lrrfip1	ENSG00000124831	LRR binding FLII interacting protein 1	chr2:238536219-238722325		Tobacco Use Disorder	 	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0008150;biological_process;ND|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IDA|GO:0003725;double-stranded RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRFIP1	https://www.uniprot.org/uniprot/Q32MZ4		https://www.ncbi.nlm.nih.gov/omim/?term=603256	http://www.informatics.jax.org/searchtool/Search.do?query=LRRFIP1&submit=Quick%0D%5726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRFIP1	rs3769062	0.391773	0	0	1	0	0	intronic	intronic	intronic	LRRFIP1	LRRFIP1	ENSG00000124831	Na	Na	Na	Na	Na	Na	Het;C>T	76;1|3	Hom;C>T	125;0|4
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238659821	238659821	C	T	snp	intronic	 	 	 	 	LRRFIP1	Lrrfip1	ENSG00000124831	LRR binding FLII interacting protein 1	chr2:238536219-238722325		Tobacco Use Disorder	 	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0008150;biological_process;ND|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IDA|GO:0003725;double-stranded RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRFIP1	https://www.uniprot.org/uniprot/Q32MZ4		https://www.ncbi.nlm.nih.gov/omim/?term=603256	http://www.informatics.jax.org/searchtool/Search.do?query=LRRFIP1&submit=Quick%0D%5726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRFIP1	rs146402354	0.00299521	0.0050	0.0076	1	0	0	intronic	intronic	intronic	LRRFIP1	LRRFIP1	ENSG00000124831	Na	Na	Na	Na	Na	Na	Het;C>T	735;35|35	Hom;C>T	1854;4|77
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238786132	238786132	G	T	snp	intronic	 	 	 	 	RAMP1	Ramp1	ENSG00000132329	receptor activity modifying protein 1	chr2:238767536-238820756	The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]	Waist-Hip Ratio; null	Mice homozygous for a knock-out allele exhibit high systolic blood pressure due to a disruption in vasodilatory regulation as well as significantly increased serum levels of proinflammatory cytokines following LPS administration.	Calcitonin-like ligand receptors	GO:0001525;angiogenesis;IDA|GO:0006810;transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006886;intracellular protein transport;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0015031;protein transport;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031623;receptor internalization;IDA|GO:0060050;positive regulation of protein glycosylation;IDA|GO:0072659;protein localization to plasma membrane;IDA	GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004872;receptor activity;IDA|GO:0004948;calcitonin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0015026;coreceptor activity;IEA|GO:0031716;calcitonin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAMP1	https://www.uniprot.org/uniprot/O60894		https://www.ncbi.nlm.nih.gov/omim/?term=605153	http://www.informatics.jax.org/searchtool/Search.do?query=RAMP1&submit=Quick%0D%6652ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAMP1	rs1210881	0.371006	0	0	1	0	0	intronic	intronic	intronic	RAMP1	RAMP1	ENSG00000132329	Na	Na	Na	Na	Na	Na	Het;G>T	171;12|8	Hom;G>T	519;0|20
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	238875616	238875616	C	G	snp	ncRNA_exonic	 	 	 	 	UBE2F-SCLY		ENSG00000258984	UBE2F-SCLY readthrough (NMD candidate)	chr2:238875656-239008053	This locus represents naturally occurring read-through transcription between the neighboring UBE2F (ubiquitin-conjugating enzyme E2F) and SCLY (selenocysteine lyase) genes on chromosome 2. The read-through transcript is a candidate for non-sense mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011]							http://www.genecards.org/index.php?path=/Search/keyword/UBE2F-SCLY				http://www.informatics.jax.org/searchtool/Search.do?query=UBE2F-SCLY&submit=Quick%0D%20313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2F-SCLY	rs761008040	0	0	0	1	0	0	ncRNA_exonic	UTR5	UTR5	UBE2F-SCLY	UBE2F(uc002vxk.3:c.-6134C>G,uc031rrw.1:c.-6134C>G,uc031rry.1:c.-113C>G,uc010znp.2:c.-6134C>G,uc010znn.2:c.-6134C>G),UBE2F-SCLY(uc002vxm.4:c.-97392C>G)	ENSG00000184182(ENST00000440223:c.-6134C>G,ENST00000441728:c.-6134C>G,ENST00000272930:c.-6134C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	56;1|4	Hom;C>G	150;0|6
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239039057	239039057	A	G	snp	nonsynonymous SNV	A1702G	I568V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ESPNL	Espnl	ENSG00000144488	espin like	chr2:239008798-239041928			 		GO:0051017;actin filament bundle assembly;IBA	GO:0005737;cytoplasm;IBA|GO:0031941;filamentous actin;IBA	GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ESPNL	https://www.uniprot.org/uniprot/Q6ZVH7			http://www.informatics.jax.org/searchtool/Search.do?query=ESPNL&submit=Quick%0D%8615ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESPNL	rs13033248	0.394569	0.3828	0.4479	0.08	1	12	exonic	exonic	exonic	ESPNL	ESPNL	ENSG00000144488	nonsynonymous SNV	nonsynonymous SNV	unknown	ESPNL:NM_194312:exon9:c.A1702G:p.I568V,	ESPNL:uc002vxq.4:exon9:c.A1702G:p.I568V,ESPNL:uc031rsa.1:exon4:c.A598G:p.I200V,ESPNL:uc010fyw.3:exon5:c.A790G:p.I264V,	UNKNOWN	Het;A>G	524;32|16	Hom;A>G	1849;0|50
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239039075	239039075	G	T	snp	nonsynonymous SNV	G1720T	A574S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ESPNL	Espnl	ENSG00000144488	espin like	chr2:239008798-239041928			 		GO:0051017;actin filament bundle assembly;IBA	GO:0005737;cytoplasm;IBA|GO:0031941;filamentous actin;IBA	GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ESPNL	https://www.uniprot.org/uniprot/Q6ZVH7			http://www.informatics.jax.org/searchtool/Search.do?query=ESPNL&submit=Quick%0D%8615ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESPNL	rs13006204	0.390176	0.3792	0.4480	0.08	1	13	exonic	exonic	exonic	ESPNL	ESPNL	ENSG00000144488	nonsynonymous SNV	nonsynonymous SNV	unknown	ESPNL:NM_194312:exon9:c.G1720T:p.A574S,	ESPNL:uc002vxq.4:exon9:c.G1720T:p.A574S,ESPNL:uc031rsa.1:exon4:c.G616T:p.A206S,ESPNL:uc010fyw.3:exon5:c.G808T:p.A270S,	UNKNOWN	Het;G>T	618;26|20	Hom;G>T	1412;0|31
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239039841	239039841	A	G	snp	nonsynonymous SNV	A2486G	Q829R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ESPNL	Espnl	ENSG00000144488	espin like	chr2:239008798-239041928			 		GO:0051017;actin filament bundle assembly;IBA	GO:0005737;cytoplasm;IBA|GO:0031941;filamentous actin;IBA	GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ESPNL	https://www.uniprot.org/uniprot/Q6ZVH7			http://www.informatics.jax.org/searchtool/Search.do?query=ESPNL&submit=Quick%0D%8615ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESPNL	rs10172220	0.530551	0.4429	0.5414	0.08	1	13	exonic	exonic	exonic	ESPNL	ESPNL	ENSG00000144488	nonsynonymous SNV	nonsynonymous SNV	unknown	ESPNL:NM_194312:exon9:c.A2486G:p.Q829R,	ESPNL:uc002vxq.4:exon9:c.A2486G:p.Q829R,ESPNL:uc031rsa.1:exon4:c.A1382G:p.Q461R,ESPNL:uc010fyw.3:exon5:c.A1574G:p.Q525R,	UNKNOWN	Het;A>G	593;19|28	Hom;A>G	1676;1|61
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239049540	239049540	G	A	snp	nonsynonymous SNV	G145A	G49S	aliphatic,neutral	polar,hydrophilic,neutral	KLHL30	Klhl30	ENSG00000168427	kelch like family member 30	chr2:239047363-239061588			 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL30				http://www.informatics.jax.org/searchtool/Search.do?query=KLHL30&submit=Quick%0D%12267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL30	rs2241985	0.386382	0.3876	0.4077	0.08	1	13	exonic	exonic	exonic	KLHL30	KLHL30	ENSG00000168427	nonsynonymous SNV	nonsynonymous SNV	unknown	KLHL30:NM_198582:exon2:c.G145A:p.G49S,	KLHL30:uc002vxr.2:exon2:c.G145A:p.G49S,	UNKNOWN	Het;G>A	1636;55|78	Hom;G>A	2578;0|95
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239053685	239053685	A	C	snp	intronic	 	 	 	 	KLHL30	Klhl30	ENSG00000168427	kelch like family member 30	chr2:239047363-239061588			 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL30				http://www.informatics.jax.org/searchtool/Search.do?query=KLHL30&submit=Quick%0D%12267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL30	rs13013945	0.472644	0.4989	0	1	0	0	intronic	intronic	intronic	KLHL30	KLHL30	ENSG00000168427	Na	Na	Na	Na	Na	Na	Het;A>C	242;12|12	Hom;A>C	497;0|19
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239056746	239056746	T	G	snp	intronic	 	 	 	 	KLHL30	Klhl30	ENSG00000168427	kelch like family member 30	chr2:239047363-239061588			 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL30				http://www.informatics.jax.org/searchtool/Search.do?query=KLHL30&submit=Quick%0D%12267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL30	rs11674655	0.463259	0	0	1	0	0	intronic	intronic	intronic	KLHL30	KLHL30	ENSG00000168427	Na	Na	Na	Na	Na	Na	Het;T>G	61;7|3	Hom;T>G	140;0|5
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239073046	239073046	C	T	snp	intronic	 	 	 	 	FAM132B	Fam132b																	rs6760421	0.254193	0	0.3426	1	0	0	intronic	intronic	intronic	FAM132B	FAM132B	ENSG00000178752	Na	Na	Na	Na	Na	Na	Het;C>T	283;11|13	Hom;C>T	592;0|22
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239092474	239092474	C	T	snp	intronic	 	 	 	 	ILKAP	Ilkap	ENSG00000132323	ILK associated serine/threonine phosphatase	chr2:239079042-239112370	The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]	Phospholipids	Mice homozygous for a null gene trap insertion exhibit enhanced motor coordination, and male homozygous mice exhibit increased cholesterol levels.		GO:0006470;protein dephosphorylation;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016310;phosphorylation;IEA	GO:0005737;cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILKAP	https://www.uniprot.org/uniprot/Q9H0C8			http://www.informatics.jax.org/searchtool/Search.do?query=ILKAP&submit=Quick%0D%6650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILKAP	rs2305173	0.336861	0	0	1	0	0	intronic	intronic	intronic	ILKAP	ILKAP	ENSG00000132323	Na	Na	Na	Na	Na	Na	Het;C>T	308;9|12	Hom;C>T	553;0|19
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239102856	239102856	A	G	snp	intronic	 	 	 	 	ILKAP	Ilkap	ENSG00000132323	ILK associated serine/threonine phosphatase	chr2:239079042-239112370	The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]	Phospholipids	Mice homozygous for a null gene trap insertion exhibit enhanced motor coordination, and male homozygous mice exhibit increased cholesterol levels.		GO:0006470;protein dephosphorylation;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016310;phosphorylation;IEA	GO:0005737;cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILKAP	https://www.uniprot.org/uniprot/Q9H0C8			http://www.informatics.jax.org/searchtool/Search.do?query=ILKAP&submit=Quick%0D%6650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILKAP	rs3795903	0.26278	0.2841	0	1	0	0	intronic	intronic	intronic	ILKAP	ILKAP	ENSG00000132323	Na	Na	Na	Na	Na	Na	Het;A>G	731;42|38	Hom;A>G	910;0|32
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239103574	239103574	G	A	snp	intronic	 	 	 	 	ILKAP	Ilkap	ENSG00000132323	ILK associated serine/threonine phosphatase	chr2:239079042-239112370	The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]	Phospholipids	Mice homozygous for a null gene trap insertion exhibit enhanced motor coordination, and male homozygous mice exhibit increased cholesterol levels.		GO:0006470;protein dephosphorylation;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016310;phosphorylation;IEA	GO:0005737;cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILKAP	https://www.uniprot.org/uniprot/Q9H0C8			http://www.informatics.jax.org/searchtool/Search.do?query=ILKAP&submit=Quick%0D%6650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILKAP	rs35393292	0.235224	0.2602	0	1	0	0	intronic	intronic	intronic	ILKAP	ILKAP	ENSG00000132323	Na	Na	Na	Na	Na	Na	Het;G>A	292;25|15	Hom;G>A	837;1|30
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239103603	239103603	C	G	snp	intronic	 	 	 	 	ILKAP	Ilkap	ENSG00000132323	ILK associated serine/threonine phosphatase	chr2:239079042-239112370	The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]	Phospholipids	Mice homozygous for a null gene trap insertion exhibit enhanced motor coordination, and male homozygous mice exhibit increased cholesterol levels.		GO:0006470;protein dephosphorylation;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016310;phosphorylation;IEA	GO:0005737;cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILKAP	https://www.uniprot.org/uniprot/Q9H0C8			http://www.informatics.jax.org/searchtool/Search.do?query=ILKAP&submit=Quick%0D%6650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILKAP	rs7558210	0.259385	0	0	1	0	0	intronic	intronic	intronic	ILKAP	ILKAP	ENSG00000132323	Na	Na	Na	Na	Na	Na	Het;C>G	134;10|6	Hom;C>G	370;0|12
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239564114	239564114	C	T	snp	intergenic	 	 	 	 	LINC01107																		rs2334025	0.512181	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01107(dist=99974),TWIST2(dist=192559)	LOC151171(dist=99974),U4(dist=147407)	ENSG00000225493(dist=100419),ENSG00000234279(dist=64851)	Na	Na	Na	Na	Na	Na	Het;C>T	243;16|13	Hom;C>T	536;0|20
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239841135	239841135	C	T	snp	ncRNA_exonic	 	 	 	 	FLJ43879																		rs11674577	0.123403	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ43879	FLJ43879	ENSG00000227744	Na	Na	Na	Na	Na	Na	Het;C>T	1234;41|58	Hom;C>T	2860;0|108
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239844663	239844663	C	T	snp	ncRNA_intronic	 	 	 	 	FLJ43879																		rs11897901	0.244209	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FLJ43879	FLJ43879	ENSG00000227744	Na	Na	Na	Na	Na	Na	Het;C>T	64;1|3	Hom;C>T	229;0|8
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239844842	239844842	T	C	snp	ncRNA_exonic	 	 	 	 	FLJ43879																		rs11901161	0.363019	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ43879	FLJ43879	ENSG00000227744	Na	Na	Na	Na	Na	Na	Het;T>C	638;25|29	Hom;T>C	1561;0|57
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239845718	239845718	C	G	snp	ncRNA_exonic	 	 	 	 	FLJ43879																		rs74888197	0.125599	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ43879	FLJ43879	ENSG00000227744	Na	Na	Na	Na	Na	Na	Het;C>G	1482;101|75	Hom;C>G	5037;0|170
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239846072	239846072	A	G	snp	ncRNA_exonic	 	 	 	 	FLJ43879																		rs76389741	0.130192	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FLJ43879	FLJ43879	ENSG00000227744	Na	Na	Na	Na	Na	Na	Het;A>G	729;34|34	Hom;A>G	1786;0|62
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	239847486	239847486	C	T	snp	ncRNA_intronic	 	 	 	 	FLJ43879																		rs7602841	0.26258	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FLJ43879	FLJ43879	ENSG00000227744	Na	Na	Na	Na	Na	Na	Het;C>T	135;4|5	Hom;C>T	276;0|8
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	240423994	240423994	C	T	snp	intergenic	 	 	 	 	AC062017.1																		rs1564973	0.555511	0	0	1	0	0	intergenic	intergenic	intergenic	HDAC4(dist=101351),LOC150935(dist=260560)	HDAC4(dist=100648),BC132948(dist=76001)	ENSG00000222020(dist=99936),ENSG00000196758(dist=76001)	Na	Na	Na	Na	Na	Na	Het;C>T	303;18|14	Hom;C>T	885;0|29
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	240424047	240424047	G	A	snp	intergenic	 	 	 	 	AC062017.1																		rs1796451	0.407947	0	0	1	0	0	intergenic	intergenic	intergenic	HDAC4(dist=101404),LOC150935(dist=260507)	HDAC4(dist=100701),BC132948(dist=75948)	ENSG00000222020(dist=99989),ENSG00000196758(dist=75948)	Na	Na	Na	Na	Na	Na	Het;G>A	791;41|43	Hom;G>A	1920;0|74
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	240436706	240436706	G	A	snp	intergenic	 	 	 	 	AC062017.1																		rs57448642	0.239018	0	0	1	0	0	intergenic	intergenic	intergenic	HDAC4(dist=114063),LOC150935(dist=247848)	HDAC4(dist=113360),BC132948(dist=63289)	ENSG00000222020(dist=112648),ENSG00000196758(dist=63289)	Na	Na	Na	Na	Na	Na	Het;G>A	48;4|4	Hom;G>A	291;0|12
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	240833280	240833280	G	A	snp	intronic	 	 	 	 	NDUFA10	Ndufa10	ENSG00000281434	NADH:ubiquinone oxidoreductase subunit A10	chr2:240831867-240964819	The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]	Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; prostate cancer; drug-related genes ; cognitive trait	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA10	https://www.uniprot.org/uniprot/O95299	https://hpo.jax.org/app/browse/search?q=NDUFA10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603835	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA10&submit=Quick%0D%22301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA10	rs11896087	0.14996	0	0	1	0	0	intergenic	intergenic	intronic	LOC150935(dist=110924),MIR4786(dist=49152)	LOC150935(dist=110924),MIR4786(dist=49152)	ENSG00000130414	Na	Na	Na	Na	Na	Na	Het;G>A	83;3|5	Hom;G>A	107;0|5
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241079382	241079382	T	G	snp	intronic	 	 	 	 	OTOS	Otos	ENSG00000178602	otospiralin	chr2:241078446-241083979	Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]	Erythrocyte Count; Lipids; Schizophrenia; Triglycerides	Homozygous null mice display decreased endocochlear potentials and shrunken type II and IV cochlear fibrocytes.		GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/OTOS			https://www.ncbi.nlm.nih.gov/omim/?term=607877	http://www.informatics.jax.org/searchtool/Search.do?query=OTOS&submit=Quick%0D%14206ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOS	rs2291769	0.135184	0	0	1	0	0	intronic	intronic	intronic	OTOS	OTOS	ENSG00000178602	Na	Na	Na	Na	Na	Na	Het;T>G	151;6|6	Hom;T>G	289;0|10
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241388981	241388981	T	A	snp	ncRNA_exonic	 	 	 	 	PP14571																		rs2844	0.292133	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	PP14571	PP14571(uc002vyy.1:c.*934A>T)	ENSG00000218416(ENST00000404327:c.*266A>T,ENST00000404891:c.*1577A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	1236;47|62	Hom;T>A	3329;0|127
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241390516	241390516	C	T	snp	nonsynonymous SNV	G53A	R18Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PP14571																		rs3828336	0.211861	0	0.2941	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	PP14571	PP14571	ENSG00000255735	Na	nonsynonymous SNV	Na	Na	PP14571:uc002vyy.1:exon2:c.G53A:p.R18Q,	Na	Het;C>T	2405;107|104	Hom;C>T	6363;2|230
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241403955	241403995	GTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT	G	indel	intronic	 	 	 	 	GPC1	Gpc1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1	rs369472922	0.517173	0	0	1	0	0	intronic	intronic	intronic	GPC1	GPC1	ENSG00000063660	Na	Na	Na	Na	Na	Na	Het;-TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT	689;36|22	Hom;-TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT	1409;1|36
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241404317	241404317	C	T	snp	synonymous SNV	C1059T	P353P	hydrophobic,neutral	hydrophobic,neutral	GPC1	Gpc1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1	rs2229458	0.516773	0.6008	0.5749	1	0	0	exonic	exonic	exonic	GPC1	GPC1	ENSG00000063660	synonymous SNV	synonymous SNV	unknown	GPC1:NM_002081:exon6:c.C1059T:p.P353P,	GPC1:uc002vyw.4:exon6:c.C1059T:p.P353P,	UNKNOWN	Het;C>T	1139;42|56	Hom;C>T	2679;0|100
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241404499	241404499	C	T	snp	synonymous SNV	C1140T	S380S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GPC1	Gpc1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1	rs2228327	0.247404	0.3076	0.3553	1	0	0	exonic	exonic	exonic	GPC1	GPC1	ENSG00000063660	synonymous SNV	synonymous SNV	unknown	GPC1:NM_002081:exon7:c.C1140T:p.S380S,	GPC1:uc002vyw.4:exon7:c.C1140T:p.S380S,	UNKNOWN	Het;C>T	793;48|39	Hom;C>T	2279;0|82
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241404758	241404758	G	A	snp	intronic	 	 	 	 	GPC1	Gpc1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1	rs10188712	0.524361	0	0	1	0	0	intronic	intronic	intronic	GPC1	GPC1	ENSG00000063660	Na	Na	Na	Na	Na	Na	Het;G>A	31;2|2	Hom;G>A	194;0|7
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241405454	241405454	G	A	snp	intronic	 	 	 	 	GPC1	Gpc1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1	rs6760745	0.342652	0.3518	0.3772	1	0	0	intronic	intronic	intronic	GPC1	GPC1	ENSG00000063660	Na	Na	Na	Na	Na	Na	Het;G>A	136;15|7	Hom;G>A	715;0|27
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241405528	241405528	A	G	snp	nonsynonymous SNV	A1498G	S500G	polar,hydrophilic,neutral	aliphatic,neutral	GPC1	Gpc1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1	rs2228331	0.664337	0.7734	0.6642	0.08	1	12	exonic	exonic	exonic	GPC1	GPC1	ENSG00000063660	nonsynonymous SNV	nonsynonymous SNV	unknown	GPC1:NM_002081:exon9:c.A1498G:p.S500G,	GPC1:uc002vyw.4:exon9:c.A1498G:p.S500G,	UNKNOWN	Het;A>G	628;50|34	Hom;A>G	2052;0|78
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241439809	241439809	C	A	snp	intronic	 	 	 	 	ANKMY1	Ankmy1	ENSG00000144504	ankyrin repeat and MYND domain containing 1	chr2:241418839-241508626		Platelet Count; Alzheimer's disease ; Tobacco Use Disorder	 				GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1	https://www.uniprot.org/uniprot/Q9P2S6			http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1	rs78414006	0.0800719	0	0	1	0	0	intronic	intronic	intronic	ANKMY1	ANKMY1	ENSG00000144504	Na	Na	Na	Na	Na	Na	Het;C>A	342;11|15	Hom;C>A	489;0|17
2_252.744_266.744	Chr2:235528138-241561721	0.223	2	241451350	241451350	C	T	snp	synonymous SNV	G1524A	T508T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ANKMY1	Ankmy1	ENSG00000144504	ankyrin repeat and MYND domain containing 1	chr2:241418839-241508626		Platelet Count; Alzheimer's disease ; Tobacco Use Disorder	 				GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1	https://www.uniprot.org/uniprot/Q9P2S6			http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1	rs10427348	0.0780751	0.1395	0.1308	1	0	0	exonic	exonic	exonic	ANKMY1	ANKMY1	ENSG00000144504	synonymous SNV	synonymous SNV	unknown	ANKMY1:NM_001282780:exon9:c.G1524A:p.T508T,ANKMY1:NM_001282771:exon11:c.G2214A:p.T738T,ANKMY1:NM_001282781:exon10:c.G1230A:p.T410T,ANKMY1:NM_016552:exon10:c.G1947A:p.T649T,	ANKMY1:uc002vzd.1:exon9:c.G1524A:p.T508T,ANKMY1:uc002vzc.1:exon9:c.G1524A:p.T508T,ANKMY1:uc002vyz.1:exon10:c.G1947A:p.T649T,ANKMY1:uc010fzd.1:exon11:c.G2214A:p.T738T,ANKMY1:uc002vzb.1:exon10:c.G1230A:p.T410T,	UNKNOWN	Het;C>T	1162;61|57	Hom;C>T	1897;0|71
N	N	-	2	241621869	241621869	G	A	snp	nonsynonymous SNV	C386T	T129M	polar,hydrophilic,neutral	hydrophobic,neutral	AQP12B	Aqp12	ENSG00000185176	aquaporin 12B	chr2:241615835-241622323			Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis.		GO:0006810;transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AQP12B				http://www.informatics.jax.org/searchtool/Search.do?query=AQP12B&submit=Quick%0D%15359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP12B	rs74882485	0	0	0.2091	0.33	4	12	exonic	exonic	exonic	AQP12B	AQP12B	ENSG00000185176	nonsynonymous SNV	nonsynonymous SNV	unknown	AQP12B:NM_001102467:exon1:c.C386T:p.T129M,	AQP12B:uc010fzj.3:exon1:c.C386T:p.T129M,	UNKNOWN	Het;G>A	565;46|30	Hom;G>A	1687;2|63
N	N	-	2	241631267	241631267	A	G	snp	UTR5	-64A>G	 	 	 	AQP12A	Aqp12	ENSG00000184945	aquaporin 12A	chr2:241631262-241637900		Hemoglobin A, Glycosylated	Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis.	Passive transport by Aquaporins	GO:0006810;transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AQP12A			https://www.ncbi.nlm.nih.gov/omim/?term=609789	http://www.informatics.jax.org/searchtool/Search.do?query=AQP12A&submit=Quick%0D%15301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP12A	rs71428453	0.216054	0	0.2886	1	0	0	UTR5	UTR5	UTR5	AQP12A(NM_198998:c.-64A>G)	AQP12A(uc002vzu.3:c.-64A>G)	ENSG00000184945(ENST00000337801:c.-64A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	258;46|17	Hom;A>G	1388;0|50
N	N	-	2	241631413	241631413	T	G	snp	nonsynonymous SNV	T83G	L28R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	AQP12A	Aqp12	ENSG00000184945	aquaporin 12A	chr2:241631262-241637900		Hemoglobin A, Glycosylated	Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis.	Passive transport by Aquaporins	GO:0006810;transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AQP12A			https://www.ncbi.nlm.nih.gov/omim/?term=609789	http://www.informatics.jax.org/searchtool/Search.do?query=AQP12A&submit=Quick%0D%15301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP12A	rs71428454	0.19988	0	0.2781	0.54	7	13	exonic	exonic	exonic	AQP12A	AQP12A	ENSG00000184945	nonsynonymous SNV	nonsynonymous SNV	unknown	AQP12A:NM_198998:exon1:c.T83G:p.L28R,	AQP12A:uc002vzu.3:exon1:c.T83G:p.L28R,	UNKNOWN	Het;T>G	1820;171|94	Hom;T>G	4199;6|160
N	N	-	2	241653287	241653287	A	G	snp	UTR3	*3494T>C	 	 	 	KIF1A	Kif1a	ENSG00000130294	kinesin family member 1A	chr2:241653181-241759725	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated	Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF1A	https://www.uniprot.org/uniprot/Q12756	https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601255	http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A	rs4613	0.446286	0	0	1	0	0	UTR3	UTR3	UTR3	KIF1A(NM_001244008:c.*3494T>C,NM_004321:c.*3494T>C)	KIF1A(uc002vzw.3:c.*3494T>C,uc002vzx.3:c.*3494T>C,uc031rsb.1:c.*3494T>C,uc010fzk.3:c.*3494T>C)	ENSG00000130294(ENST00000320389:c.*3494T>C,ENST00000498729:c.*3435T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1957;73|92	Hom;A>G	3777;2|139
N	N	-	2	241663019	241663019	C	T	snp	intronic	 	 	 	 	KIF1A	Kif1a	ENSG00000130294	kinesin family member 1A	chr2:241653181-241759725	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated	Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF1A	https://www.uniprot.org/uniprot/Q12756	https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601255	http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A	rs2043252	0.338858	0.2636	0.3907	1	0	0	intronic	intronic	intronic	KIF1A	KIF1A	ENSG00000130294	Na	Na	Na	Na	Na	Na	Het;C>T	543;40|28	Hom;C>T	1780;0|67
N	N	-	2	241680644	241680644	G	C	snp	intronic	 	 	 	 	KIF1A	Kif1a	ENSG00000130294	kinesin family member 1A	chr2:241653181-241759725	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated	Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF1A	https://www.uniprot.org/uniprot/Q12756	https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601255	http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A	rs1013225	0.227236	0.2613	0.2684	1	0	0	intronic	intronic	intronic	KIF1A	KIF1A	ENSG00000130294	Na	Na	Na	Na	Na	Na	Het;G>C	170;14|9	Hom;G>C	909;0|35
N	N	-	2	241684692	241684692	C	T	snp	intronic	 	 	 	 	KIF1A	Kif1a	ENSG00000130294	kinesin family member 1A	chr2:241653181-241759725	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated	Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF1A	https://www.uniprot.org/uniprot/Q12756	https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601255	http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A	rs7576602	0.108427	0	0	1	0	0	intronic	intronic	intronic	KIF1A	KIF1A	ENSG00000130294	Na	Na	Na	Na	Na	Na	Het;C>T	52;5|3	Hom;C>T	315;0|10
N	N	-	2	241706227	241706227	C	T	snp	intronic	 	 	 	 	KIF1A	Kif1a	ENSG00000130294	kinesin family member 1A	chr2:241653181-241759725	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated	Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF1A	https://www.uniprot.org/uniprot/Q12756	https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601255	http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A	rs11681427	0.103235	0	0	1	0	0	intronic	intronic	intronic	KIF1A	KIF1A	ENSG00000130294	Na	Na	Na	Na	Na	Na	Het;C>T	159;8|7	Hom;C>T	376;0|16
N	N	-	2	241711784	241711784	G	C	snp	intronic	 	 	 	 	KIF1A	Kif1a	ENSG00000130294	kinesin family member 1A	chr2:241653181-241759725	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated	Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF1A	https://www.uniprot.org/uniprot/Q12756	https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601255	http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A	rs3772060	0.101038	0	0	1	0	0	intronic	intronic	intronic	KIF1A	KIF1A	ENSG00000130294	Na	Na	Na	Na	Na	Na	Het;G>C	35;4|2	Hom;G>C	146;0|5
N	N	-	2	241726646	241726646	A	G	snp	intronic	 	 	 	 	KIF1A	Kif1a	ENSG00000130294	kinesin family member 1A	chr2:241653181-241759725	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated	Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis	Kinesins	GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF1A	https://www.uniprot.org/uniprot/Q12756	https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601255	http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A	rs2288746	0.483227	0.5216	0.4230	1	0	0	intronic	intronic	intronic	KIF1A	KIF1A	ENSG00000130294	Na	Na	Na	Na	Na	Na	Het;A>G	926;41|46	Hom;A>G	2113;0|81
N	N	-	2	241808314	241808314	C	T	snp	nonsynonymous SNV	C32T	P11L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs34116584	0.0808706	0.1553	0.1545	0.85	11	13	exonic	exonic	exonic	AGXT	AGXT	ENSG00000172482	nonsynonymous SNV	nonsynonymous SNV	unknown	AGXT:NM_000030:exon1:c.C32T:p.P11L,	AGXT:uc010zoi.1:exon1:c.C32T:p.P11L,AGXT:uc002waa.4:exon1:c.C32T:p.P11L,	UNKNOWN	Het;C>T	1314;65|66	Hom;C>T	3291;0|117
N	N	-	2	241808463	241808463	A	G	snp	intronic	 	 	 	 	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs66494441	0	0	0.1628	1	0	0	intronic	intronic	intronic	AGXT	AGXT	ENSG00000172482	Na	Na	Na	Na	Na	Na	Het;A>G	2232;116|113	Hom;A>G	4145;1|175
N	N	-	2	241808491	241808491	T	TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	indel	intronic	 	 	 	 	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	Na	0	0	0.0090	1	0	0	intronic	intronic	intronic	AGXT	AGXT	ENSG00000172482	Na	Na	Na	Na	Na	Na	Het;+CCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	3725;90|56	Hom;+CCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	3163;8|127
N	N	-	2	241808685	241808685	C	T	snp	synonymous SNV	C264T	A88A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs35698882	0.08127	0.1565	0.1498	1	0	0	exonic	exonic	exonic	AGXT	AGXT	ENSG00000172482	synonymous SNV	synonymous SNV	unknown	AGXT:NM_000030:exon2:c.C264T:p.A88A,	AGXT:uc010zoi.1:exon2:c.C264T:p.A88A,AGXT:uc002waa.4:exon2:c.C264T:p.A88A,	UNKNOWN	Het;C>T	1299;64|64	Hom;C>T	3670;1|140
N	N	-	2	241808792	241808792	C	T	snp	intronic	 	 	 	 	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs34995778	0.0816693	0.1565	0.1531	1	0	0	intronic	intronic	intronic	AGXT	AGXT	ENSG00000172482	Na	Na	Na	Na	Na	Na	Het;C>T	1283;56|57	Hom;C>T	2151;3|81
N	N	-	2	241809898	241809898	C	T	snp	intronic	 	 	 	 	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs34134404	0.0808706	0	0	1	0	0	intronic	intronic	intronic	AGXT	AGXT	ENSG00000172482	Na	Na	Na	Na	Na	Na	Het;C>T	98;2|4	Hom;C>T	160;0|6
N	N	-	2	241813496	241813496	C	T	snp	intronic	 	 	 	 	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs11693280	0.0820687	0.1564	0.1500	1	0	0	intronic	intronic	intronic	AGXT	AGXT	ENSG00000172482	Na	Na	Na	Na	Na	Na	Het;C>T	1587;119|79	Hom;C>T	4457;0|161
N	N	-	2	241817272	241817272	G	T	snp	intronic	 	 	 	 	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs4073370	0.111222	0	0	1	0	0	intronic	intronic	intronic	AGXT	AGXT	ENSG00000172482	Na	Na	Na	Na	Na	Na	Het;G>T	605;34|31	Hom;G>T	968;0|38
N	N	-	2	241817516	241817516	A	G	snp	nonsynonymous SNV	A1020G	I340M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AGXT	Agxt	ENSG00000172482	alanine-glyoxylate aminotransferase	chr2:241807896-241819919	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]	hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones.	Glyoxylate metabolism and glycine degradation	GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AGXT		https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604285	http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT	rs4426527	0.111222	0.1592	0.1653	0.15	2	13	exonic	exonic	exonic	AGXT	AGXT	ENSG00000172482	nonsynonymous SNV	nonsynonymous SNV	unknown	AGXT:NM_000030:exon10:c.A1020G:p.I340M,	AGXT:uc002waa.4:exon10:c.A1020G:p.I340M,AGXT:uc002wab.4:exon2:c.A654G:p.I218M,	UNKNOWN	Het;A>G	1632;54|74	Hom;A>G	2233;0|80
N	N	-	2	241827676	241827676	G	A	snp	intronic	 	 	 	 	C2orf54	2310007B03Rik	ENSG00000172478	chromosome 2 open reading frame 54	chr2:241825465-241836306			 					http://www.genecards.org/index.php?path=/Search/keyword/C2orf54				http://www.informatics.jax.org/searchtool/Search.do?query=C2orf54&submit=Quick%0D%13173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf54	rs34927891	0.0872604	0.1385	0.1597	1	0	0	intronic	intronic	intronic	C2orf54	C2orf54	ENSG00000172478	Na	Na	Na	Na	Na	Na	Het;G>A	98;5|5	Hom;G>A	218;0|8
N	N	-	2	241828138	241828138	A	G	snp	intronic	 	 	 	 	C2orf54	2310007B03Rik	ENSG00000172478	chromosome 2 open reading frame 54	chr2:241825465-241836306			 					http://www.genecards.org/index.php?path=/Search/keyword/C2orf54				http://www.informatics.jax.org/searchtool/Search.do?query=C2orf54&submit=Quick%0D%13173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf54	rs35290804	0.0884585	0	0	1	0	0	intronic	intronic	intronic	C2orf54	C2orf54	ENSG00000172478	Na	Na	Na	Na	Na	Na	Het;A>G	188;6|6	Hom;A>G	330;0|11
N	N	-	2	241831716	241831716	G	A	snp	intronic	 	 	 	 	C2orf54	2310007B03Rik	ENSG00000172478	chromosome 2 open reading frame 54	chr2:241825465-241836306			 					http://www.genecards.org/index.php?path=/Search/keyword/C2orf54				http://www.informatics.jax.org/searchtool/Search.do?query=C2orf54&submit=Quick%0D%13173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf54	rs35419035	0.0870607	0	0	1	0	0	intronic	intronic	intronic	C2orf54	C2orf54	ENSG00000172478	Na	Na	Na	Na	Na	Na	Het;G>A	47;4|4	Hom;G>A	288;0|12
N	N	-	2	241834830	241834830	T	G	snp	intronic	 	 	 	 	C2orf54	2310007B03Rik	ENSG00000172478	chromosome 2 open reading frame 54	chr2:241825465-241836306			 					http://www.genecards.org/index.php?path=/Search/keyword/C2orf54				http://www.informatics.jax.org/searchtool/Search.do?query=C2orf54&submit=Quick%0D%13173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf54	rs3936204	0.0960463	0	0	1	0	0	intronic	intronic	intronic	C2orf54	C2orf54	ENSG00000172478	Na	Na	Na	Na	Na	Na	Het;T>G	58;12|4	Hom;T>G	676;1|20
N	N	-	2	241834875	241834875	G	A	snp	intronic	 	 	 	 	C2orf54	2310007B03Rik	ENSG00000172478	chromosome 2 open reading frame 54	chr2:241825465-241836306			 					http://www.genecards.org/index.php?path=/Search/keyword/C2orf54				http://www.informatics.jax.org/searchtool/Search.do?query=C2orf54&submit=Quick%0D%13173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf54	rs3936205	0.18131	0.1678	0.3183	1	0	0	intronic	intronic	intronic	C2orf54	C2orf54	ENSG00000172478	Na	Na	Na	Na	Na	Na	Het;G>A	249;19|14	Hom;G>A	1319;2|49
N	N	-	2	241906719	241906719	C	T	snp	ncRNA_intronic	 	 	 	 	LOC200772																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC200772	LOC200772	ENSG00000233392	Na	Na	Na	Na	Na	Na	Het;C>T	44;5|4	Hom;C>T	320;0|12
N	N	-	2	242078285	242078285	G	A	snp	intronic	 	 	 	 	PASK	Pask	ENSG00000115687	PAS domain containing serine/threonine kinase	chr2:242045514-242089679	This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Chronic renal failure|Kidney Failure, Chronic	Homozygous null mice display resistance to diet-induced obesity, impaired glucose stimulated insulin secretion, abnormal energy balance, and abnormalities in hypoxia induced changes in ventialtion.		GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0043576;regulation of respiratory gaseous exchange;ISS|GO:0045719;negative regulation of glycogen biosynthetic process;IDA|GO:0045727;positive regulation of translation;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0070092;regulation of glucagon secretion;ISS|GO:2000505;regulation of energy homeostasis;ISS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008289;lipid binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035091;phosphatidylinositol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PASK	https://www.uniprot.org/uniprot/Q96RG2		https://www.ncbi.nlm.nih.gov/omim/?term=607505	http://www.informatics.jax.org/searchtool/Search.do?query=PASK&submit=Quick%0D%4647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PASK	rs572186643	0.000998403	0	0	1	0	0	intronic	intronic	intronic	PASK	PASK	ENSG00000115687	Na	Na	Na	Na	Na	Na	Het;G>A	801;36|33	Hom;G>A	1196;0|42
N	N	-	2	242100062	242100062	A	G	snp	intronic	 	 	 	 	PPP1R7	Ppp1r7	ENSG00000115685	protein phosphatase 1 regulatory subunit 7	chr2:242088991-242123067	This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Forced Vital Capacity	 		GO:0007059;chromosome segregation;IEA|GO:0008150;biological_process;ND|GO:0035307;positive regulation of protein dephosphorylation;IMP|GO:0050790;regulation of catalytic activity;IEA|GO:0061588;calcium activated phospholipid scrambling;IEA	GO:0005634;nucleus;TAS|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;TAS|GO:0030234;enzyme regulator activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R7	https://www.uniprot.org/uniprot/Q15435		https://www.ncbi.nlm.nih.gov/omim/?term=602877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R7&submit=Quick%0D%4646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R7	rs11676460	0.147564	0	0	1	0	0	intronic	intronic	intronic	PPP1R7	PPP1R7	ENSG00000115685	Na	Na	Na	Na	Na	Na	Het;A>G	141;5|5	Hom;A>G	575;0|17
N	N	-	2	242122391	242122391	T	C	snp	UTR3	*153T>C	 	 	 	PPP1R7	Ppp1r7	ENSG00000115685	protein phosphatase 1 regulatory subunit 7	chr2:242088991-242123067	This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Forced Vital Capacity	 		GO:0007059;chromosome segregation;IEA|GO:0008150;biological_process;ND|GO:0035307;positive regulation of protein dephosphorylation;IMP|GO:0050790;regulation of catalytic activity;IEA|GO:0061588;calcium activated phospholipid scrambling;IEA	GO:0005634;nucleus;TAS|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;TAS|GO:0030234;enzyme regulator activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R7	https://www.uniprot.org/uniprot/Q15435		https://www.ncbi.nlm.nih.gov/omim/?term=602877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R7&submit=Quick%0D%4646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R7	rs3868	0.819089	0	0	1	0	0	UTR3	UTR3	UTR3	PPP1R7(NM_001282413:c.*153T>C,NM_001282412:c.*153T>C,NM_001282409:c.*153T>C,NM_002712:c.*153T>C)	PPP1R7(uc002wat.1:c.*153T>C,uc002wau.1:c.*153T>C)	ENSG00000115685(ENST00000407025:c.*153T>C,ENST00000272983:c.*153T>C,ENST00000234038:c.*153T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	35;3|2	Hom;T>C	254;0|7
N	N	-	2	242135017	242135017	A	C	snp	intronic	 	 	 	 	ANO7	Ano7	ENSG00000146205	anoctamin 7	chr2:242127924-242164792	This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]		 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061589;calcium activated phosphatidylserine scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO7	https://www.uniprot.org/uniprot/Q6IWH7		https://www.ncbi.nlm.nih.gov/omim/?term=605096	http://www.informatics.jax.org/searchtool/Search.do?query=ANO7&submit=Quick%0D%8848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO7	rs12694996	0.689696	0	0	1	0	0	intronic	intronic	intronic	ANO7	ANO7	ENSG00000146205	Na	Na	Na	Na	Na	Na	Het;A>C	209;6|7	Hom;A>C	807;1|23
N	N	-	2	242139491	242139491	C	T	snp	intronic	 	 	 	 	ANO7	Ano7	ENSG00000146205	anoctamin 7	chr2:242127924-242164792	This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]		 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061589;calcium activated phosphatidylserine scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO7	https://www.uniprot.org/uniprot/Q6IWH7		https://www.ncbi.nlm.nih.gov/omim/?term=605096	http://www.informatics.jax.org/searchtool/Search.do?query=ANO7&submit=Quick%0D%8848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO7	rs2013250	0.535743	0.7492	0.6656	1	0	0	intronic	intronic	intronic	ANO7	ANO7	ENSG00000146205	Na	Na	Na	Na	Na	Na	Het;C>T	620;23|28	Hom;C>T	1221;0|49
N	N	-	2	242141719	242141719	C	T	snp	synonymous SNV	C885T	D295D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ANO7	Ano7	ENSG00000146205	anoctamin 7	chr2:242127924-242164792	This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]		 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061589;calcium activated phosphatidylserine scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANO7	https://www.uniprot.org/uniprot/Q6IWH7		https://www.ncbi.nlm.nih.gov/omim/?term=605096	http://www.informatics.jax.org/searchtool/Search.do?query=ANO7&submit=Quick%0D%8848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO7	rs2074840	0.414736	0.6351	0.5546	1	0	0	exonic	exonic	exonic	ANO7	ANO7	ENSG00000146205	synonymous SNV	synonymous SNV	unknown	ANO7:NM_001001891:exon8:c.C885T:p.D295D,	ANO7:uc002wax.2:exon8:c.C885T:p.D295D,	UNKNOWN	Het;C>T	1205;56|64	Hom;C>T	2807;4|112
N	N	-	2	242168976	242168976	T	C	snp	UTR3	*40A>G	 	 	 	HDLBP	Hdlbp	ENSG00000115677	high density lipoprotein binding protein	chr2:242166679-242256476	The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]	Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels	 	HDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HDLBP	https://www.uniprot.org/uniprot/Q00341		https://www.ncbi.nlm.nih.gov/omim/?term=142695	http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP	rs15129	0.368211	0.1912	0.3020	1	0	0	UTR3	UTR3	UTR3	HDLBP(NM_005336:c.*40A>G,NM_001243900:c.*40A>G,NM_203346:c.*40A>G)	HDLBP(uc021vzg.1:c.*40A>G,uc002waz.3:c.*40A>G,uc002wba.3:c.*40A>G)	ENSG00000115677(ENST00000391975:c.*40A>G,ENST00000310931:c.*40A>G,ENST00000391976:c.*40A>G,ENST00000427183:c.*40A>G,ENST00000373292:c.*40A>G,ENST00000442730:c.*203A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	183;11|9	Hom;T>C	486;0|19
N	N	-	2	242176019	242176019	T	C	snp	intronic	 	 	 	 	HDLBP	Hdlbp	ENSG00000115677	high density lipoprotein binding protein	chr2:242166679-242256476	The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]	Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels	 	HDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HDLBP	https://www.uniprot.org/uniprot/Q00341		https://www.ncbi.nlm.nih.gov/omim/?term=142695	http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP	rs2305073	0.283347	0.3264	0.3015	1	0	0	intronic	intronic	intronic	HDLBP	HDLBP	ENSG00000115677	Na	Na	Na	Na	Na	Na	Het;T>C	317;22|16	Hom;T>C	839;2|34
N	N	-	2	242203776	242203776	C	CA	indel	intronic	 	 	 	 	HDLBP	Hdlbp	ENSG00000115677	high density lipoprotein binding protein	chr2:242166679-242256476	The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]	Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels	 	HDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HDLBP	https://www.uniprot.org/uniprot/Q00341		https://www.ncbi.nlm.nih.gov/omim/?term=142695	http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP	rs71933081	0.342053	0	0	1	0	0	intronic	intronic	intronic	HDLBP	HDLBP	ENSG00000115677	Na	Na	Na	Na	Na	Na	Het;+A	120;7|9	Hom;+A	161;1|9
N	N	-	2	242206956	242206956	C	T	snp	intronic	 	 	 	 	HDLBP	Hdlbp	ENSG00000115677	high density lipoprotein binding protein	chr2:242166679-242256476	The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]	Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels	 	HDL clearance	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HDLBP	https://www.uniprot.org/uniprot/Q00341		https://www.ncbi.nlm.nih.gov/omim/?term=142695	http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP	rs35334418	0.951677	0	0.8799	1	0	0	intronic	intronic	intronic	HDLBP	HDLBP	ENSG00000115677	Na	Na	Na	Na	Na	Na	Het;C>T	727;25|35	Hom;C>T	1371;0|50
N	N	-	2	242274489	242274489	G	C	snp	intronic	 	 	 	 	SEPT2	Sept2																	rs56390510	0.216054	0.1615	0	1	0	0	intronic	intronic	intronic	SEPT2	SEPT2	ENSG00000168385	Na	Na	Na	Na	Na	Na	Het;G>C	59;7|4	Hom;G>C	423;0|13
N	N	-	2	242283094	242283094	A	G	snp	intronic	 	 	 	 	SEPT2	Sept2																	rs6707518	0.706869	0	0	1	0	0	intronic	intronic	intronic	SEPT2	SEPT2	ENSG00000168385	Na	Na	Na	Na	Na	Na	Het;A>G	74;19|5	Hom;A>G	867;1|27
N	N	-	2	242287487	242287487	T	G	snp	intronic	 	 	 	 	SEPT2	Sept2																	rs12619647	0.397764	0.0819	0	1	0	0	intronic	intronic	intronic	SEPT2	SEPT2	ENSG00000168385	Na	Na	Na	Na	Na	Na	Het;T>G	182;16|11	Hom;T>G	1224;0|45
N	N	-	2	242289663	242289663	C	CATT	indel	intronic	 	 	 	 	SEPT2	Sept2																	rs3217007	0.767572	0	0	1	0	0	intronic	intronic	intronic	SEPT2	SEPT2	ENSG00000168385	Na	Na	Na	Na	Na	Na	Het;+ATT	1432;35|38	Hom;+ATT	2887;0|67
N	N	-	2	242350339	242350339	C	G	snp	intronic	 	 	 	 	FARP2	Farp2	ENSG00000006607	FERM, ARH/RhoGEF and pleckstrin domain protein 2	chr2:242295658-242434256		Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism	Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL	SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion	GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FARP2	https://www.uniprot.org/uniprot/O94887			http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2	Na	0	0	0	1	0	0	intronic	intronic	intronic	FARP2	FARP2	ENSG00000006607	Na	Na	Na	Na	Na	Na	Het;C>G	41;3|2	Hom;C>G	216;0|6
N	N	-	2	242371245	242371245	A	T	snp	intronic	 	 	 	 	FARP2	Farp2	ENSG00000006607	FERM, ARH/RhoGEF and pleckstrin domain protein 2	chr2:242295658-242434256		Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism	Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL	SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion	GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FARP2	https://www.uniprot.org/uniprot/O94887			http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2	rs148538153	0.0706869	0	0	1	0	0	intronic	intronic	intronic	FARP2	FARP2	ENSG00000006607	Na	Na	Na	Na	Na	Na	Het;A>T	181;9|10	Hom;A>T	631;0|19
N	N	-	2	242374358	242374358	T	C	snp	intronic	 	 	 	 	FARP2	Farp2	ENSG00000006607	FERM, ARH/RhoGEF and pleckstrin domain protein 2	chr2:242295658-242434256		Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism	Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL	SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion	GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FARP2	https://www.uniprot.org/uniprot/O94887			http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2	rs16843671	0.210663	0.1569	0.2007	1	0	0	intronic	intronic	intronic	FARP2	FARP2	ENSG00000006607	Na	Na	Na	Na	Na	Na	Het;T>C	522;30|26	Hom;T>C	2105;0|76
N	N	-	2	242405021	242405021	C	T	snp	UTR3	*96C>T	 	 	 	FARP2	Farp2	ENSG00000006607	FERM, ARH/RhoGEF and pleckstrin domain protein 2	chr2:242295658-242434256		Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism	Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL	SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion	GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FARP2	https://www.uniprot.org/uniprot/O94887			http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2	rs2240482	0.228035	0	0	1	0	0	UTR3	UTR3	UTR3	FARP2(NM_001282983:c.*96C>T)	FARP2(uc010zor.2:c.*96C>T)	ENSG00000006607(ENST00000373287:c.*96C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	583;33|29	Hom;C>T	1248;3|52
N	N	-	2	242433348	242433348	A	G	snp	UTR3	*1729T>C	 	 	 	STK25	Stk25	ENSG00000115694	serine/threonine kinase 25	chr2:242432089-242449145	This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]		Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration.		GO:0006468;protein phosphorylation;IDA|GO:0006979;response to oxidative stress;TAS|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0036481;intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IGI|GO:0042542;response to hydrogen peroxide;IDA|GO:0045595;regulation of cell differentiation;IBA|GO:0046777;protein autophosphorylation;IDA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051645;Golgi localization;IDA|GO:0051683;establishment of Golgi localization;IMP|GO:0090168;Golgi reassembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK25	https://www.uniprot.org/uniprot/O00506		https://www.ncbi.nlm.nih.gov/omim/?term=602255	http://www.informatics.jax.org/searchtool/Search.do?query=STK25&submit=Quick%0D%4648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK25	rs2018761	0.816693	0	0	1	0	0	intronic	intronic	UTR3	FARP2	FARP2	ENSG00000115694(ENST00000316586:c.*1729T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	175;8|8	Hom;A>G	309;0|12
N	N	-	2	242435658	242435662	CAAGG	C	indel	UTR3	*2563_*2559delinsG	 	 	 	STK25	Stk25	ENSG00000115694	serine/threonine kinase 25	chr2:242432089-242449145	This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]		Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration.		GO:0006468;protein phosphorylation;IDA|GO:0006979;response to oxidative stress;TAS|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0036481;intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IGI|GO:0042542;response to hydrogen peroxide;IDA|GO:0045595;regulation of cell differentiation;IBA|GO:0046777;protein autophosphorylation;IDA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051645;Golgi localization;IDA|GO:0051683;establishment of Golgi localization;IMP|GO:0090168;Golgi reassembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK25	https://www.uniprot.org/uniprot/O00506		https://www.ncbi.nlm.nih.gov/omim/?term=602255	http://www.informatics.jax.org/searchtool/Search.do?query=STK25&submit=Quick%0D%4648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK25	rs3215138	0.228035	0	0	1	0	0	intronic	UTR3	intronic	STK25	STK25(uc002wbl.3:c.*2563_*2559delinsG)	ENSG00000115694	Na	Na	Na	Na	Na	Na	Het;-AAGG	71;6|3	Hom;-AAGG	143;0|4
N	N	-	2	242439988	242439988	A	G	snp	intronic	 	 	 	 	STK25	Stk25	ENSG00000115694	serine/threonine kinase 25	chr2:242432089-242449145	This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]		Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration.		GO:0006468;protein phosphorylation;IDA|GO:0006979;response to oxidative stress;TAS|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0036481;intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IGI|GO:0042542;response to hydrogen peroxide;IDA|GO:0045595;regulation of cell differentiation;IBA|GO:0046777;protein autophosphorylation;IDA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051645;Golgi localization;IDA|GO:0051683;establishment of Golgi localization;IMP|GO:0090168;Golgi reassembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK25	https://www.uniprot.org/uniprot/O00506		https://www.ncbi.nlm.nih.gov/omim/?term=602255	http://www.informatics.jax.org/searchtool/Search.do?query=STK25&submit=Quick%0D%4648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK25	rs34506685	0.274161	0	0	1	0	0	intronic	intronic	intronic	STK25	STK25	ENSG00000115694	Na	Na	Na	Na	Na	Na	Het;A>G	60;7|4	Hom;A>G	117;0|4
N	N	-	2	242483938	242483944	TATATAC	T	indel	ncRNA_exonic	 	 	 	 	BOK-AS1																		rs71049583	0.72484	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	BOK-AS1	BOK-AS1(uc021vzh.2:c.*287_*281delinsA)	ENSG00000234235	Na	Na	Na	Na	Na	Na	Het;-ATATAC	264;5|8	Hom;-ATATAC	278;0|7
N	N	-	2	242573211	242573211	T	C	snp	nonsynonymous SNV	A361G	S121G	polar,hydrophilic,neutral	aliphatic,neutral	THAP4	Thap4	ENSG00000176946	THAP domain containing 4	chr2:242523820-242576864		Brain structure 	 				GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THAP4			https://www.ncbi.nlm.nih.gov/omim/?term=612533	http://www.informatics.jax.org/searchtool/Search.do?query=THAP4&submit=Quick%0D%13942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THAP4	rs7424328	0.610024	0.4708	0.5362	0.15	2	13	exonic	exonic	exonic	THAP4	THAP4	ENSG00000176946	nonsynonymous SNV	nonsynonymous SNV	unknown	THAP4:NM_015963:exon2:c.A361G:p.S121G,	THAP4:uc002wbt.3:exon2:c.A361G:p.S121G,	UNKNOWN	Het;T>C	1737;83|76	Hom;T>C	4245;0|150
N	N	-	2	242594622	242594622	C	T	snp	intronic	 	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs6712888	0.285942	0.3340	0	1	0	0	intronic	intronic	intronic	ATG4B	ATG4B	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;C>T	574;27|27	Hom;C>T	974;1|36
N	N	-	2	242605962	242605962	C	T	snp	intronic	 	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs4675930	0.201478	0	0.2365	1	0	0	intronic	intronic	intronic	ATG4B	ATG4B	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;C>T	75;4|4	Hom;C>T	349;0|10
N	N	-	2	242607451	242607451	T	C	snp	intronic	 	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs62190299	0.205471	0	0	1	0	0	intronic	intronic	intronic	ATG4B	ATG4B	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;T>C	225;6|7	Hom;T>C	938;0|25
N	N	-	2	242607807	242607807	G	C	snp	intronic	 	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs35275267	0.204872	0	0	1	0	0	intronic	intronic	intronic	ATG4B	ATG4B	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;G>C	271;12|9	Hom;G>C	805;0|22
N	N	-	2	242607924	242607924	A	G	snp	intronic	 	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs62190301	0.205072	0.1708	0.2947	1	0	0	intronic	intronic	intronic	ATG4B	ATG4B	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;A>G	1893;70|89	Hom;A>G	3794;0|136
N	N	-	2	242608183	242608183	G	GT	indel	intronic	 	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs138661495	0	0	0	1	0	0	intronic	intronic	intronic	ATG4B	ATG4B	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;+T	286;19|16	Hom;+T	651;1|28
N	N	-	2	242610253	242610253	T	C	snp	intronic	 	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs35454903	0.22524	0.2179	0	1	0	0	intronic	intronic	intronic	ATG4B	ATG4B	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;T>C	490;19|25	Hom;T>C	1097;0|41
N	N	-	2	242610738	242610738	T	C	snp	synonymous SNV	T804C	L268L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs11538896	0.205072	0.1799	0.2465	1	0	0	exonic	exonic	exonic	ATG4B	ATG4B	ENSG00000168397	synonymous SNV	synonymous SNV	unknown	ATG4B:NM_013325:exon12:c.T1026C:p.L342L,ATG4B:NM_178326:exon12:c.T1026C:p.L342L,	ATG4B:uc010zoz.2:exon9:c.T804C:p.L268L,ATG4B:uc002wbu.3:exon13:c.T804C:p.L268L,ATG4B:uc002wbw.3:exon12:c.T1026C:p.L342L,ATG4B:uc010zoy.2:exon13:c.T804C:p.L268L,ATG4B:uc002wbv.3:exon12:c.T1026C:p.L342L,ATG4B:uc010fzp.3:exon12:c.T1026C:p.L342L,ATG4B:uc010zox.2:exon13:c.T984C:p.L328L,	UNKNOWN	Het;T>C	1413;64|59	Hom;T>C	3676;0|126
N	N	-	2	242610773	242610773	T	A	snp	nonsynonymous SNV	T1061A	L354Q	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs7601000	0.879393	0.8346	0.8153	0.08	1	13	exonic	exonic	exonic	ATG4B	ATG4B	ENSG00000168397	nonsynonymous SNV	nonsynonymous SNV	unknown	ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q,	ATG4B:uc010zoz.2:exon9:c.T839A:p.L280Q,ATG4B:uc002wbu.3:exon13:c.T839A:p.L280Q,ATG4B:uc002wbw.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zoy.2:exon13:c.T839A:p.L280Q,ATG4B:uc002wbv.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010fzp.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zox.2:exon13:c.T1019A:p.L340Q,	UNKNOWN	Het;T>A	1623;81|78	Hom;T>A	5051;0|191
N	N	-	2	242611547	242611547	G	A	snp	UTR3	*587G>A	 	 	 	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs34859751	0.19349	0.1608	0	1	0	0	intronic	UTR3	intronic	ATG4B	ATG4B(uc002wbu.3:c.*587G>A)	ENSG00000168397	Na	Na	Na	Na	Na	Na	Het;G>A	115;13|7	Hom;G>A	359;0|14
N	N	-	2	242615462	242615462	T	C	snp	UTR3	*80A>G	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs5860	0.544728	0	0	1	0	0	UTR3	UTR3	UTR3	DTYMK(NM_012145:c.*80A>G,NM_001165031:c.*80A>G)	AK126180(uc002wcb.2:c.*1237A>G),DTYMK(uc010zpa.2:c.*80A>G,uc002wbz.2:c.*80A>G)	ENSG00000168393(ENST00000305784:c.*80A>G,ENST00000400770:c.*376A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	2156;87|59	Hom;T>C	6482;2|146
N	N	-	2	242615472	242615472	G	A	snp	UTR3	*70C>T	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs3209844	0.196685	0	0	1	0	0	UTR3	UTR3	UTR3	DTYMK(NM_012145:c.*70C>T,NM_001165031:c.*70C>T)	AK126180(uc002wcb.2:c.*1227C>T),DTYMK(uc010zpa.2:c.*70C>T,uc002wbz.2:c.*70C>T)	ENSG00000168393(ENST00000305784:c.*70C>T,ENST00000400770:c.*366C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	2278;89|64	Hom;G>A	6493;2|148
N	N	-	2	242615528	242615529	TG	T	indel	UTR3	*14_*13delinsA	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs34706919	0.216254	0.1945	0.2527	1	0	0	UTR3	UTR3	UTR3	DTYMK(NM_012145:c.*14_*13delinsA,NM_001165031:c.*14_*13delinsA)	AK126180(uc002wcb.2:c.*1171_*1170delinsA),DTYMK(uc010zpa.2:c.*14_*13delinsA,uc002wbz.2:c.*14_*13delinsA)	ENSG00000168393(ENST00000305784:c.*14_*13delinsA,ENST00000400770:c.*310_*309delinsA)	Na	Na	Na	Na	Na	Na	Het;-G	2320;63|78	Hom;-G	4240;2|121
N	N	-	2	242617792	242617792	A	G	snp	intronic	 	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs4076640	0.544529	0	0	1	0	0	intronic	intronic	intronic	DTYMK	DTYMK	ENSG00000168393	Na	Na	Na	Na	Na	Na	Het;A>G	202;2|10	Hom;A>G	427;0|14
N	N	-	2	242617851	242617851	A	G	snp	intronic	 	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs4076639	0.205671	0.1832	0.2317	1	0	0	intronic	intronic	intronic	DTYMK	DTYMK	ENSG00000168393	Na	Na	Na	Na	Na	Na	Het;A>G	575;20|25	Hom;A>G	1342;0|44
N	N	-	2	242618171	242618171	T	C	snp	intronic	 	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs4675905	0.204473	0	0	1	0	0	intronic	intronic	intronic	DTYMK	DTYMK	ENSG00000168393	Na	Na	Na	Na	Na	Na	Het;T>C	187;8|8	Hom;T>C	614;0|19
N	N	-	2	242618195	242618195	C	CTT	indel	intronic	 	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs10663952	0.204673	0	0	1	0	0	intronic	intronic	intronic	DTYMK	DTYMK	ENSG00000168393	Na	Na	Na	Na	Na	Na	Het;+TT	80;3|3	Hom;+TT	87;0|3
N	N	-	2	242625413	242625413	A	T	snp	intronic	 	 	 	 	DTYMK	Dtymk	ENSG00000168393	deoxythymidylate kinase	chr2:242615157-242626406			 	Interconversion of nucleotide di- and triphosphates	GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/DTYMK			https://www.ncbi.nlm.nih.gov/omim/?term=188345	http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK	rs62191287	0.340655	0	0	1	0	0	intronic	intronic	intronic	DTYMK	DTYMK	ENSG00000168393	Na	Na	Na	Na	Na	Na	Het;A>T	214;9|10	Hom;A>T	431;1|14
N	N	-	2	242630048	242630048	G	A	snp	ncRNA_exonic	 	 	 	 	ENSG00000228989																		rs7573214	0.608027	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	DTYMK(dist=3665),ING5(dist=11408)	DTYMK(dist=3665),ING5(dist=11408)	ENSG00000228989	Na	Na	Na	Na	Na	Na	Het;G>A	918;46|47	Hom;G>A	2568;0|97
N	N	-	2	242659067	242659067	G	A	snp	UTR3	*31G>A	 	 	 	ING5	Ing5	ENSG00000168395	inhibitor of growth family member 5	chr2:242641450-242668893	This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder	 	Regulation of TP53 Activity through Acetylation	GO:0006260;DNA replication;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006473;protein acetylation;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016573;histone acetylation;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043966;histone H3 acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045926;negative regulation of growth;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0070776;MOZ/MORF histone acetyltransferase complex;IEA	GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ING5			https://www.ncbi.nlm.nih.gov/omim/?term=608525	http://www.informatics.jax.org/searchtool/Search.do?query=ING5&submit=Quick%0D%12259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ING5	rs77890618	0.0846645	0	0.1183	1	0	0	intronic	UTR3	intronic	ING5	ING5(uc021vzk.1:c.*31G>A)	ENSG00000168395	Na	Na	Na	Na	Na	Na	Het;G>A	825;30|38	Hom;G>A	1333;0|49
N	N	-	2	242969315	242969315	G	C	snp	ncRNA_intronic	 	 	 	 	LINC01237																		rs4973679	0.659145	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01237	BC101234(dist=21155),LOC728323(dist=61529)	ENSG00000233806	Na	Na	Na	Na	Na	Na	Het;G>C	989;49|48	Hom;G>C	1245;0|45
N	N	-	2	24299677	24299677	T	TG	indel	upstream;downstream	 	 	 	 	FAM228B	Fam228b	ENSG00000219626	family with sequence similarity 228 member B	chr2:24299396-24392509			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM228B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B	rs11410986	0.365815	0	0	1	0	0	upstream;downstream	upstream;downstream	upstream;downstream	FAM228B,SF3B6;TP53I3	FAM228B,SF3B14;TP53I3	ENSG00000115128;ENSG00000115129	Na	Na	Na	Na	Na	Na	Het;+G	161;10|7	Hom;+G	406;0|12
N	N	-	2	243060626	243060626	C	CAGAGAAATCCCATGTTACACTTCAAACTCGGGCAGTGCATGGCTGCTCTGG	indel	ncRNA_intronic	 	 	 	 	LOC728323																		Na	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC728323	LOC728323	ENSG00000220804	Na	Na	Na	Na	Na	Na	Het;+AGAGAAATCCCATGTTACACTTCAAACTCGGGCAGTGCATGGCTGCTCTGG	645;16|18	Hom;+AGAGAAATCCCATGTTACACTTCAAACTCGGGCAGTGCATGGCTGCTCTGG	1145;0|32
N	N	-	2	24317850	24317850	T	C	snp	intronic	 	 	 	 	FAM228B	Fam228b	ENSG00000219626	family with sequence similarity 228 member B	chr2:24299396-24392509			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM228B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B	rs11892283	0.244609	0	0	1	0	0	intronic	intronic	intergenic	FAM228B	FAM228B	ENSG00000115129(dist=9765),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	74;1|3	Hom;T>C	90;0|3
N	N	-	2	24342505	24342505	T	C	snp	synonymous SNV	A303G	V101V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PFN4	Pfn4	ENSG00000176732	profilin family member 4	chr2:24338241-24346347	By analysis of a large number of subjects and a more specific patient selection, we showed the first genetic evidence that MTHFR C677T, MS A2756G and MTRR A66G genotypes were independently associated with male infertility. Each SNP of the three enzymes may have a different impact on the folate cycle during spermatogenesis.	benzene haematotoxicity	 		GO:0042989;sequestering of actin monomers;IBA|GO:0042989;sequestering of actin monomers;IBA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IBA|GO:0015629;actin cytoskeleton;IBA	GO:0003785;actin monomer binding;IBA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PFN4	https://www.uniprot.org/uniprot/Q8NHR9			http://www.informatics.jax.org/searchtool/Search.do?query=PFN4&submit=Quick%0D%227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PFN4	rs1056122	0.276957	0.3185	0.3191	1	0	0	exonic	exonic	exonic	PFN4	PFN4	ENSG00000176732	synonymous SNV	synonymous SNV	unknown	PFN4:NM_199346:exon4:c.A303G:p.V101V,	PFN4:uc002rfa.1:exon4:c.A303G:p.V101V,	UNKNOWN	Het;T>C	1323;82|63	Hom;T>C	2811;0|107
N	N	-	2	24524958	24524958	C	T	snp	nonsynonymous SNV	G871A	V291I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ITSN2	Itsn2	ENSG00000198399	intersectin 2	chr2:24425733-24583583	This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Parkinson Disease; coronary spastic angina; Memory, Short-Term	Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury.	Clathrin-mediated endocytosis	GO:0006897;endocytosis;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903861;positive regulation of dendrite extension;IDA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0070062;extracellular exosome;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITSN2			https://www.ncbi.nlm.nih.gov/omim/?term=604464	http://www.informatics.jax.org/searchtool/Search.do?query=ITSN2&submit=Quick%0D%16886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITSN2	rs7603997	0.292133	0.3617	0.3046	0.23	3	13	exonic	exonic	exonic	ITSN2	ITSN2	ENSG00000198399	nonsynonymous SNV	nonsynonymous SNV	unknown	ITSN2:NM_147152:exon10:c.G871A:p.V291I,ITSN2:NM_019595:exon10:c.G871A:p.V291I,ITSN2:NM_006277:exon10:c.G871A:p.V291I,	ITSN2:uc002rff.2:exon10:c.G871A:p.V291I,ITSN2:uc010eyd.2:exon11:c.G946A:p.V316I,ITSN2:uc002rfg.3:exon10:c.G871A:p.V291I,ITSN2:uc002rfe.2:exon10:c.G871A:p.V291I,	UNKNOWN	Het;C>T	818;57|40	Hom;C>T	2628;2|97
N	N	-	2	24651117	24651117	T	C	snp	intergenic	 	 	 	 	ITSN2	Itsn2	ENSG00000198399	intersectin 2	chr2:24425733-24583583	This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Parkinson Disease; coronary spastic angina; Memory, Short-Term	Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury.	Clathrin-mediated endocytosis	GO:0006897;endocytosis;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903861;positive regulation of dendrite extension;IDA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0070062;extracellular exosome;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITSN2			https://www.ncbi.nlm.nih.gov/omim/?term=604464	http://www.informatics.jax.org/searchtool/Search.do?query=ITSN2&submit=Quick%0D%16886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITSN2	rs6723490	0.498802	0	0	1	0	0	intergenic	intergenic	intergenic	ITSN2(dist=67720),NCOA1(dist=156229)	ITSN2(dist=67720),NCOA1(dist=136062)	ENSG00000198399(dist=67534),ENSG00000084676(dist=63684)	Na	Na	Na	Na	Na	Na	Het;T>C	339;8|12	Hom;T>C	612;0|20
N	N	-	2	26399214	26399214	G	A	snp	synonymous SNV	G114A	G38G	aliphatic,neutral	aliphatic,neutral	GAREML	 																	rs4665830	0.811701	0.7354	0.7345	1	0	0	exonic	exonic	exonic	GAREML	GAREML	ENSG00000157833	synonymous SNV	synonymous SNV	unknown	GAREML:NM_001168241:exon2:c.G114A:p.G38G,	GAREML:uc002rgw.2:exon2:c.G114A:p.G38G,	UNKNOWN	Het;G>A	1509;88|77	Hom;G>A	3610;0|133
N	N	-	2	26689912	26689913	TG	T	indel	intronic	 	 	 	 	OTOF	Otof	ENSG00000115155	otoferlin	chr2:26680071-26781566	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural; Complete Hearing Loss|Deafness|hearing impairment|Hearing Loss; hearing loss, sensorineural; Hearing Loss, Central	Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.		GO:0007605;sensory perception of sound;TAS|GO:0016079;synaptic vesicle exocytosis;ISS|GO:0061025;membrane fusion;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/OTOF	https://www.uniprot.org/uniprot/Q9HC10	https://hpo.jax.org/app/browse/search?q=OTOF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603681	http://www.informatics.jax.org/searchtool/Search.do?query=OTOF&submit=Quick%0D%4547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOF	rs3215308	0	0	0	1	0	0	intronic	intronic	intronic	OTOF	OTOF	ENSG00000115155	Na	Na	Na	Na	Na	Na	Het;-G	669;31|29	Hom;-G	3088;0|84
N	N	-	2	26699126	26699126	C	G	snp	synonymous SNV	G495C	L165L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OTOF	Otof	ENSG00000115155	otoferlin	chr2:26680071-26781566	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural; Complete Hearing Loss|Deafness|hearing impairment|Hearing Loss; hearing loss, sensorineural; Hearing Loss, Central	Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.		GO:0007605;sensory perception of sound;TAS|GO:0016079;synaptic vesicle exocytosis;ISS|GO:0061025;membrane fusion;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/OTOF	https://www.uniprot.org/uniprot/Q9HC10	https://hpo.jax.org/app/browse/search?q=OTOF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603681	http://www.informatics.jax.org/searchtool/Search.do?query=OTOF&submit=Quick%0D%4547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOF	rs4335905	0.707867	0.5298	0.5634	1	0	0	exonic	exonic	exonic	OTOF	OTOF	ENSG00000115155	synonymous SNV	synonymous SNV	unknown	OTOF:NM_194248:exon23:c.G2736C:p.L912L,OTOF:NM_194323:exon6:c.G495C:p.L165L,OTOF:NM_194322:exon5:c.G666C:p.L222L,OTOF:NM_004802:exon6:c.G495C:p.L165L,OTOF:NM_001287489:exon23:c.G2736C:p.L912L,	OTOF:uc002rhj.3:exon6:c.G495C:p.L165L,OTOF:uc002rhk.3:exon23:c.G2736C:p.L912L,OTOF:uc002rhh.3:exon6:c.G495C:p.L165L,OTOF:uc002rhi.3:exon5:c.G666C:p.L222L,	UNKNOWN	Het;C>G	580;24|27	Hom;C>G	842;0|30
N	N	-	2	26700819	26700821	TGG	T	indel	UTR5	-229_-231delinsA	 	 	 	OTOF	Otof	ENSG00000115155	otoferlin	chr2:26680071-26781566	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural; Complete Hearing Loss|Deafness|hearing impairment|Hearing Loss; hearing loss, sensorineural; Hearing Loss, Central	Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.		GO:0007605;sensory perception of sound;TAS|GO:0016079;synaptic vesicle exocytosis;ISS|GO:0061025;membrane fusion;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/OTOF	https://www.uniprot.org/uniprot/Q9HC10	https://hpo.jax.org/app/browse/search?q=OTOF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603681	http://www.informatics.jax.org/searchtool/Search.do?query=OTOF&submit=Quick%0D%4547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOF	rs55806442	0.724641	0	0	1	0	0	UTR5	UTR5	UTR5	OTOF(NM_194322:c.-58_-60delinsA,NM_004802:c.-229_-231delinsA,NM_194323:c.-229_-231delinsA)	OTOF(uc002rhh.3:c.-229_-231delinsA,uc002rhi.3:c.-58_-60delinsA,uc002rhj.3:c.-229_-231delinsA)	ENSG00000115155(ENST00000402415:c.-58_-60delinsA,ENST00000339598:c.-229_-231delinsA,ENST00000338581:c.-229_-231delinsA)	Na	Na	Na	Na	Na	Na	Het;-GG	661;16|18	Hom;-GG	1337;0|32
N	N	-	2	26706642	26706642	T	C	snp	intronic	 	 	 	 	OTOF	Otof	ENSG00000115155	otoferlin	chr2:26680071-26781566	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural; Complete Hearing Loss|Deafness|hearing impairment|Hearing Loss; hearing loss, sensorineural; Hearing Loss, Central	Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.		GO:0007605;sensory perception of sound;TAS|GO:0016079;synaptic vesicle exocytosis;ISS|GO:0061025;membrane fusion;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/OTOF	https://www.uniprot.org/uniprot/Q9HC10	https://hpo.jax.org/app/browse/search?q=OTOF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603681	http://www.informatics.jax.org/searchtool/Search.do?query=OTOF&submit=Quick%0D%4547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOF	rs4665328	0.575879	0	0	1	0	0	intronic	intronic	intronic	OTOF	OTOF	ENSG00000115155	Na	Na	Na	Na	Na	Na	Het;T>C	292;16|13	Hom;T>C	693;0|23
N	N	-	2	26724725	26724725	T	G	snp	intronic	 	 	 	 	OTOF	Otof	ENSG00000115155	otoferlin	chr2:26680071-26781566	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hearing Loss, Sensorineural; Complete Hearing Loss|Deafness|hearing impairment|Hearing Loss; hearing loss, sensorineural; Hearing Loss, Central	Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.		GO:0007605;sensory perception of sound;TAS|GO:0016079;synaptic vesicle exocytosis;ISS|GO:0061025;membrane fusion;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/OTOF	https://www.uniprot.org/uniprot/Q9HC10	https://hpo.jax.org/app/browse/search?q=OTOF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603681	http://www.informatics.jax.org/searchtool/Search.do?query=OTOF&submit=Quick%0D%4547ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOF	rs6547079	0.70028	0.6298	0.6150	1	0	0	intronic	intronic	intronic	OTOF	OTOF	ENSG00000115155	Na	Na	Na	Na	Na	Na	Het;T>G	536;9|21	Hom;T>G	678;0|26
N	N	-	2	27291661	27291661	G	A	snp	intronic	 	 	 	 	AGBL5	Agbl5	ENSG00000084693	ATP/GTP binding protein like 5	chr2:27265232-27293490	This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]	HIV Infections|[X]Human immunodeficiency virus disease; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit increased susceptibility to HSV or VACV infection.	Carboxyterminal post-translational modifications of tubulin	GO:0006508;proteolysis;IEA|GO:0035608;protein deglutamylation;ISS|GO:0035611;protein branching point deglutamylation;ISS|GO:0051607;defense response to virus;ISS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0072686;mitotic spindle;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGBL5	https://www.uniprot.org/uniprot/Q8NDL9	https://hpo.jax.org/app/browse/search?q=AGBL5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615900	http://www.informatics.jax.org/searchtool/Search.do?query=AGBL5&submit=Quick%0D%1868ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL5	rs7575465	0.463858	0.4107	0.5233	1	0	0	intronic	intronic	intronic	AGBL5	AGBL5	ENSG00000084693	Na	Na	Na	Na	Na	Na	Het;G>A	145;7|7	Hom;G>A	245;0|9
N	N	-	2	27591804	27591804	T	C	snp	intronic	 	 	 	 	EIF2B4	Eif2b4	ENSG00000115211	eukaryotic translation initiation factor 2B subunit delta	chr2:27587219-27593353	Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Brain Diseases|Multiple Sclerosis; obesity; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	 	Recycling of eIF2:GDP	GO:0001541;ovarian follicle development;IMP|GO:0006412;translation;IEA|GO:0006413;translational initiation;IDA|GO:0006417;regulation of translation;NAS|GO:0009408;response to heat;ISS|GO:0009749;response to glucose;ISS|GO:0014003;oligodendrocyte development;IMP|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0042552;myelination;IMP|GO:0043434;response to peptide hormone;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044237;cellular metabolic process;IEA|GO:0051716;cellular response to stimulus;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005851;eukaryotic translation initiation factor 2B complex;IDA	GO:0003743;translation initiation factor activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0031369;translation initiation factor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/EIF2B4	https://www.uniprot.org/uniprot/Q9UI10	https://hpo.jax.org/app/browse/search?q=EIF2B4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606687	http://www.informatics.jax.org/searchtool/Search.do?query=EIF2B4&submit=Quick%0D%4556ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2B4	rs80051818	0.133786	0	0	1	0	0	intronic	intronic	intronic	EIF2B4	EIF2B4	ENSG00000115211	Na	Na	Na	Na	Na	Na	Het;T>C	480;8|19	Hom;T>C	461;0|17
N	N	-	2	27861707	27861707	G	A	snp	intronic	 	 	 	 	GPN1	Gpn1	ENSG00000198522	GPN-loop GTPase 1	chr2:27851114-27874375	This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]	Metabolic Syndrome X	 		GO:0044376;RNA polymerase II complex import to nucleus;IBA|GO:1990022;RNA polymerase III complex localization to nucleus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPN1			https://www.ncbi.nlm.nih.gov/omim/?term=611479	http://www.informatics.jax.org/searchtool/Search.do?query=GPN1&submit=Quick%0D%16916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPN1	rs11692692	0.301318	0.4403	0.4573	1	0	0	intronic	intronic	intronic	GPN1	GPN1	ENSG00000198522	Na	Na	Na	Na	Na	Na	Het;G>A	417;22|21	Hom;G>A	2012;0|75
N	N	-	2	27873415	27873415	G	A	snp	UTR3	*348G>A	 	 	 	GPN1	Gpn1	ENSG00000198522	GPN-loop GTPase 1	chr2:27851114-27874375	This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]	Metabolic Syndrome X	 		GO:0044376;RNA polymerase II complex import to nucleus;IBA|GO:1990022;RNA polymerase III complex localization to nucleus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPN1			https://www.ncbi.nlm.nih.gov/omim/?term=611479	http://www.informatics.jax.org/searchtool/Search.do?query=GPN1&submit=Quick%0D%16916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPN1	rs7382	0.349441	0	0	1	0	0	UTR3	UTR3	UTR3	GPN1(NM_001145048:c.*348G>A,NM_001145047:c.*348G>A,NM_001145049:c.*348G>A,NM_007266:c.*348G>A)	GPN1(uc010ezf.3:c.*348G>A,uc010ymb.2:c.*348G>A,uc010yma.2:c.*348G>A,uc010ymd.2:c.*348G>A,uc010ymc.2:c.*348G>A)	ENSG00000198522(ENST00000424214:c.*348G>A,ENST00000458167:c.*348G>A,ENST00000264718:c.*348G>A,ENST00000610189:c.*348G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1434;74|69	Hom;G>A	4464;0|165
N	N	-	2	27887034	27887034	C	A	snp	nonsynonymous SNV	C415A	P139T	hydrophobic,neutral	polar,hydrophilic,neutral	SLC4A1AP	Slc4a1ap	ENSG00000163798	solute carrier family 4 member 1 adaptor protein	chr2:27886338-27917840		Alzheimer Disease	 			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLC4A1AP			https://www.ncbi.nlm.nih.gov/omim/?term=602655	http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A1AP&submit=Quick%0D%11091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A1AP	rs9678851	0.339058	0.4770	0.4731	0.08	1	13	exonic	exonic	exonic	SLC4A1AP	SLC4A1AP	ENSG00000163798	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC4A1AP:NM_018158:exon1:c.C415A:p.P139T,	SLC4A1AP:uc002rlk.4:exon1:c.C415A:p.P139T,	UNKNOWN	Het;C>A	1571;37|66	Hom;C>A	3324;0|118
N	N	-	2	28181901	28181901	G	C	snp	intronic	 	 	 	 	BRE	Bre																	rs1506537	0.540935	0	0	1	0	0	intronic	intronic	intronic	BRE	BRE	ENSG00000158019,ENSG00000243147	Na	Na	Na	Na	Na	Na	Het;G>C	69;7|4	Hom;G>C	213;0|9
N	N	-	2	28237985	28237985	C	T	snp	intronic	 	 	 	 	BRE	Bre																	rs6547817	0.543131	0	0	1	0	0	intronic	intronic	intronic	BRE	BRE	ENSG00000158019	Na	Na	Na	Na	Na	Na	Het;C>T	720;22|33	Hom;C>T	1171;0|43
N	N	-	2	28268467	28268467	C	T	snp	intronic	 	 	 	 	BRE	Bre																	rs6738887	0.552316	0	0	1	0	0	intronic	intronic	intronic	BRE	BRE	ENSG00000158019	Na	Na	Na	Na	Na	Na	Het;C>T	81;7|4	Hom;C>T	114;0|4
N	N	-	2	28805410	28805410	C	A	snp	intronic	 	 	 	 	PLB1	Plb1	ENSG00000163803	phospholipase B1	chr2:28680012-28866654	This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]	Diabetes Mellitus, Type 2; Arteries; Body Composition; Waist-Hip Ratio; Basophils	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0042572;retinol metabolic process;IEA|GO:2000344;positive regulation of acrosome reaction;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0004622;lysophospholipase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0016298;lipase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050253;retinyl-palmitate esterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLB1			https://www.ncbi.nlm.nih.gov/omim/?term=610179	http://www.informatics.jax.org/searchtool/Search.do?query=PLB1&submit=Quick%0D%11092ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLB1	rs4666102	0.38099	0.3353	0.3804	1	0	0	intronic	intronic	intronic	PLB1	PLB1	ENSG00000163803	Na	Na	Na	Na	Na	Na	Het;C>A	493;15|24	Hom;C>A	1124;0|41
N	N	-	2	28812285	28812285	T	C	snp	intronic	 	 	 	 	PLB1	Plb1	ENSG00000163803	phospholipase B1	chr2:28680012-28866654	This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]	Diabetes Mellitus, Type 2; Arteries; Body Composition; Waist-Hip Ratio; Basophils	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0042572;retinol metabolic process;IEA|GO:2000344;positive regulation of acrosome reaction;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0004622;lysophospholipase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0016298;lipase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050253;retinyl-palmitate esterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLB1			https://www.ncbi.nlm.nih.gov/omim/?term=610179	http://www.informatics.jax.org/searchtool/Search.do?query=PLB1&submit=Quick%0D%11092ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLB1	rs12468715	0.422524	0.3744	0.3618	1	0	0	intronic	intronic	intronic	PLB1	PLB1	ENSG00000163803	Na	Na	Na	Na	Na	Na	Het;T>C	612;27|28	Hom;T>C	1207;0|41
N	N	-	2	28812982	28812982	C	T	snp	intronic	 	 	 	 	PLB1	Plb1	ENSG00000163803	phospholipase B1	chr2:28680012-28866654	This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]	Diabetes Mellitus, Type 2; Arteries; Body Composition; Waist-Hip Ratio; Basophils	 	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0042572;retinol metabolic process;IEA|GO:2000344;positive regulation of acrosome reaction;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0004622;lysophospholipase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0016298;lipase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050253;retinyl-palmitate esterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLB1			https://www.ncbi.nlm.nih.gov/omim/?term=610179	http://www.informatics.jax.org/searchtool/Search.do?query=PLB1&submit=Quick%0D%11092ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLB1	rs4666105	0.430312	0.3807	0.3631	1	0	0	intronic	intronic	intronic	PLB1	PLB1	ENSG00000163803	Na	Na	Na	Na	Na	Na	Het;C>T	665;18|32	Hom;C>T	1697;0|60
N	N	-	2	29087814	29087814	C	A	snp	intronic	 	 	 	 	TRMT61B	 	ENSG00000171103	tRNA methyltransferase 61B	chr2:29072687-29093167			 	tRNA modification in the mitochondrion	GO:0008033;tRNA processing;IEA|GO:0030488;tRNA methylation;IEA|GO:0031167;rRNA methylation;IEA|GO:0032259;methylation;IEA|GO:0051260;protein homooligomerization;IDA|GO:0070901;mitochondrial tRNA methylation;TAS	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0031515;tRNA (m1A) methyltransferase complex;IEA	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016429;tRNA (adenine-N1-)-methyltransferase activity;IEA|GO:0016433;rRNA (adenine) methyltransferase activity;IMP|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT61B				http://www.informatics.jax.org/searchtool/Search.do?query=TRMT61B&submit=Quick%0D%12847ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT61B	rs55785599	0.441893	0	0	1	0	0	intronic	intronic	intronic	TRMT61B	TRMT61B	ENSG00000171103	Na	Na	Na	Na	Na	Na	Het;C>A	331;12|16	Hom;C>A	785;0|28
N	N	-	2	29092679	29092679	T	C	snp	synonymous SNV	A465G	E155E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TRMT61B	 	ENSG00000171103	tRNA methyltransferase 61B	chr2:29072687-29093167			 	tRNA modification in the mitochondrion	GO:0008033;tRNA processing;IEA|GO:0030488;tRNA methylation;IEA|GO:0031167;rRNA methylation;IEA|GO:0032259;methylation;IEA|GO:0051260;protein homooligomerization;IDA|GO:0070901;mitochondrial tRNA methylation;TAS	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0031515;tRNA (m1A) methyltransferase complex;IEA	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016429;tRNA (adenine-N1-)-methyltransferase activity;IEA|GO:0016433;rRNA (adenine) methyltransferase activity;IMP|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT61B				http://www.informatics.jax.org/searchtool/Search.do?query=TRMT61B&submit=Quick%0D%12847ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT61B	rs4233729	0.505192	0.4107	0.4701	1	0	0	exonic	exonic	exonic	TRMT61B	TRMT61B	ENSG00000171103	synonymous SNV	synonymous SNV	unknown	TRMT61B:NM_017910:exon1:c.A465G:p.E155E,	TRMT61B:uc002rmm.3:exon1:c.A465G:p.E155E,	UNKNOWN	Het;T>C	2051;63|86	Hom;T>C	3763;3|133
N	N	-	2	29092850	29092850	G	T	snp	synonymous SNV	C294A	S98S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TRMT61B	 	ENSG00000171103	tRNA methyltransferase 61B	chr2:29072687-29093167			 	tRNA modification in the mitochondrion	GO:0008033;tRNA processing;IEA|GO:0030488;tRNA methylation;IEA|GO:0031167;rRNA methylation;IEA|GO:0032259;methylation;IEA|GO:0051260;protein homooligomerization;IDA|GO:0070901;mitochondrial tRNA methylation;TAS	GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0031515;tRNA (m1A) methyltransferase complex;IEA	GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016429;tRNA (adenine-N1-)-methyltransferase activity;IEA|GO:0016433;rRNA (adenine) methyltransferase activity;IMP|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT61B				http://www.informatics.jax.org/searchtool/Search.do?query=TRMT61B&submit=Quick%0D%12847ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT61B	rs4666122	0.505192	0.4108	0.4692	1	0	0	exonic	exonic	exonic	TRMT61B	TRMT61B	ENSG00000171103	synonymous SNV	synonymous SNV	unknown	TRMT61B:NM_017910:exon1:c.C294A:p.S98S,	TRMT61B:uc002rmm.3:exon1:c.C294A:p.S98S,	UNKNOWN	Het;G>T	1525;86|72	Hom;G>T	4101;3|158
N	N	-	2	29129418	29129418	A	G	snp	synonymous SNV	A456G	E152E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	WDR43	Wdr43	ENSG00000163811	WD repeat domain 43	chr2:29117509-29171088			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR43			https://www.ncbi.nlm.nih.gov/omim/?term=616195	http://www.informatics.jax.org/searchtool/Search.do?query=WDR43&submit=Quick%0D%11097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR43	rs11688605	0.371406	0.2078	0.3445	1	0	0	exonic	exonic	exonic	WDR43	WDR43	ENSG00000163811	synonymous SNV	synonymous SNV	unknown	WDR43:NM_015131:exon3:c.A456G:p.E152E,	WDR43:uc002rmo.2:exon3:c.A456G:p.E152E,	UNKNOWN	Het;A>G	2790;116|131	Hom;A>G	7751;0|279
N	N	-	2	29136489	29136489	G	T	snp	intronic	 	 	 	 	WDR43	Wdr43	ENSG00000163811	WD repeat domain 43	chr2:29117509-29171088			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR43			https://www.ncbi.nlm.nih.gov/omim/?term=616195	http://www.informatics.jax.org/searchtool/Search.do?query=WDR43&submit=Quick%0D%11097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR43	rs4666132	0.377596	0.2255	0.3227	1	0	0	intronic	intronic	intronic	WDR43	WDR43	ENSG00000163811	Na	Na	Na	Na	Na	Na	Het;G>T	615;15|28	Hom;G>T	1106;0|42
N	N	-	2	29136623	29136623	T	C	snp	intronic	 	 	 	 	WDR43	Wdr43	ENSG00000163811	WD repeat domain 43	chr2:29117509-29171088			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR43			https://www.ncbi.nlm.nih.gov/omim/?term=616195	http://www.informatics.jax.org/searchtool/Search.do?query=WDR43&submit=Quick%0D%11097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR43	rs4666133	0.377995	0.2257	0.3226	1	0	0	intronic	intronic	intronic	WDR43	WDR43	ENSG00000163811	Na	Na	Na	Na	Na	Na	Het;T>C	939;38|44	Hom;T>C	2176;2|85
N	N	-	2	29136653	29136653	T	C	snp	intronic	 	 	 	 	WDR43	Wdr43	ENSG00000163811	WD repeat domain 43	chr2:29117509-29171088			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR43			https://www.ncbi.nlm.nih.gov/omim/?term=616195	http://www.informatics.jax.org/searchtool/Search.do?query=WDR43&submit=Quick%0D%11097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR43	rs4666134	0.370208	0.2189	0.3193	1	0	0	intronic	intronic	intronic	WDR43	WDR43	ENSG00000163811	Na	Na	Na	Na	Na	Na	Het;T>C	366;23|16	Hom;T>C	1423;0|53
N	N	-	2	29136685	29136685	C	T	snp	intronic	 	 	 	 	WDR43	Wdr43	ENSG00000163811	WD repeat domain 43	chr2:29117509-29171088			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR43			https://www.ncbi.nlm.nih.gov/omim/?term=616195	http://www.informatics.jax.org/searchtool/Search.do?query=WDR43&submit=Quick%0D%11097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR43	rs12472068	0.377796	0	0	1	0	0	intronic	intronic	intronic	WDR43	WDR43	ENSG00000163811	Na	Na	Na	Na	Na	Na	Het;C>T	137;11|6	Hom;C>T	634;0|23
N	N	-	2	29140711	29140711	G	A	snp	intronic	 	 	 	 	WDR43	Wdr43	ENSG00000163811	WD repeat domain 43	chr2:29117509-29171088			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:2000234;positive regulation of rRNA processing;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR43			https://www.ncbi.nlm.nih.gov/omim/?term=616195	http://www.informatics.jax.org/searchtool/Search.do?query=WDR43&submit=Quick%0D%11097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR43	rs4389288	0.378195	0.2030	0.2780	1	0	0	intronic	intronic	intronic	WDR43	WDR43	ENSG00000163811	Na	Na	Na	Na	Na	Na	Het;G>A	722;36|36	Hom;G>A	2070;1|79
N	N	-	2	29419591	29419591	G	T	snp	intronic	 	 	 	 	ALK	Alk	ENSG00000171094	ALK receptor tyrosine kinase	chr2:29415640-30144432	This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]	Body Height; lung cancer ; Depressive Disorder, Major; schizophrenia; Diabetes Mellitus; Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Insulin Resistance; Coronary Artery Disease; Leukemia, Lymphocytic, Chronic, B-Cell; Hemoglobin A, Glycosylated; Cell Transformation, Neoplastic|Neuroblastoma; Insulin; Hemoglobins; Cholesterol, LDL; Tobacco Use Disorder; Body Mass Index; Heart Rate; Multiple Sclerosis	Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology.		GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;TAS|GO:0016310;phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021766;hippocampus development;IEA|GO:0030534;adult behavior;IEA|GO:0036269;swimming behavior;IEA|GO:0038061;NIK/NF-kappaB signaling;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0048666;neuron development;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0090648;response to environmental enrichment;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004704;NF-kappaB-inducing kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALK		https://hpo.jax.org/app/browse/search?q=ALK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=105590	http://www.informatics.jax.org/searchtool/Search.do?query=ALK&submit=Quick%0D%12843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALK	rs1670284	0.420727	0.5470	0.5279	1	0	0	intronic	intronic	intronic	ALK	ALK	ENSG00000171094	Na	Na	Na	Na	Na	Na	Het;G>T	328;22|17	Hom;G>T	882;0|30
N	N	-	2	29445982	29445982	G	C	snp	intronic	 	 	 	 	ALK	Alk	ENSG00000171094	ALK receptor tyrosine kinase	chr2:29415640-30144432	This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]	Body Height; lung cancer ; Depressive Disorder, Major; schizophrenia; Diabetes Mellitus; Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Insulin Resistance; Coronary Artery Disease; Leukemia, Lymphocytic, Chronic, B-Cell; Hemoglobin A, Glycosylated; Cell Transformation, Neoplastic|Neuroblastoma; Insulin; Hemoglobins; Cholesterol, LDL; Tobacco Use Disorder; Body Mass Index; Heart Rate; Multiple Sclerosis	Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology.		GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;TAS|GO:0016310;phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021766;hippocampus development;IEA|GO:0030534;adult behavior;IEA|GO:0036269;swimming behavior;IEA|GO:0038061;NIK/NF-kappaB signaling;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0048666;neuron development;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0090648;response to environmental enrichment;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004704;NF-kappaB-inducing kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALK		https://hpo.jax.org/app/browse/search?q=ALK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=105590	http://www.informatics.jax.org/searchtool/Search.do?query=ALK&submit=Quick%0D%12843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALK	rs11689436	0.25599	0	0	1	0	0	intronic	intronic	intronic	ALK	ALK	ENSG00000171094	Na	Na	Na	Na	Na	Na	Het;G>C	76;2|3	Hom;G>C	101;0|4
N	N	-	2	29446202	29446202	G	A	snp	intronic	 	 	 	 	ALK	Alk	ENSG00000171094	ALK receptor tyrosine kinase	chr2:29415640-30144432	This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]	Body Height; lung cancer ; Depressive Disorder, Major; schizophrenia; Diabetes Mellitus; Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Insulin Resistance; Coronary Artery Disease; Leukemia, Lymphocytic, Chronic, B-Cell; Hemoglobin A, Glycosylated; Cell Transformation, Neoplastic|Neuroblastoma; Insulin; Hemoglobins; Cholesterol, LDL; Tobacco Use Disorder; Body Mass Index; Heart Rate; Multiple Sclerosis	Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology.		GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;TAS|GO:0016310;phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021766;hippocampus development;IEA|GO:0030534;adult behavior;IEA|GO:0036269;swimming behavior;IEA|GO:0038061;NIK/NF-kappaB signaling;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0048666;neuron development;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0090648;response to environmental enrichment;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004704;NF-kappaB-inducing kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALK		https://hpo.jax.org/app/browse/search?q=ALK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=105590	http://www.informatics.jax.org/searchtool/Search.do?query=ALK&submit=Quick%0D%12843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALK	rs4622670	0.176518	0.2663	0.2896	1	0	0	intronic	intronic	intronic	ALK	ALK	ENSG00000171094	Na	Na	Na	Na	Na	Na	Het;G>A	2367;117|116	Hom;G>A	5628;0|211
N	N	-	2	29455267	29455267	A	G	snp	synonymous SNV	T2535C	G845G	aliphatic,neutral	aliphatic,neutral	ALK	Alk	ENSG00000171094	ALK receptor tyrosine kinase	chr2:29415640-30144432	This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]	Body Height; lung cancer ; Depressive Disorder, Major; schizophrenia; Diabetes Mellitus; Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Insulin Resistance; Coronary Artery Disease; Leukemia, Lymphocytic, Chronic, B-Cell; Hemoglobin A, Glycosylated; Cell Transformation, Neoplastic|Neuroblastoma; Insulin; Hemoglobins; Cholesterol, LDL; Tobacco Use Disorder; Body Mass Index; Heart Rate; Multiple Sclerosis	Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology.		GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;TAS|GO:0016310;phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021766;hippocampus development;IEA|GO:0030534;adult behavior;IEA|GO:0036269;swimming behavior;IEA|GO:0038061;NIK/NF-kappaB signaling;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0048666;neuron development;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0090648;response to environmental enrichment;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004704;NF-kappaB-inducing kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ALK		https://hpo.jax.org/app/browse/search?q=ALK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=105590	http://www.informatics.jax.org/searchtool/Search.do?query=ALK&submit=Quick%0D%12843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALK	rs2256740	0.5	0.6614	0.6121	1	0	0	exonic	exonic	exonic	ALK	ALK	ENSG00000171094	synonymous SNV	synonymous SNV	unknown	ALK:NM_004304:exon15:c.T2535C:p.G845G,	ALK:uc002rmy.3:exon15:c.T2535C:p.G845G,	UNKNOWN	Het;A>G	1122;67|56	Hom;A>G	2501;2|96
N	N	-	2	2969745	2969745	A	T	snp	ncRNA_intronic	 	 	 	 	AK095310																		rs17040646	0.224042	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01250	AK095310	ENSG00000234423	Na	Na	Na	Na	Na	Na	Het;A>T	246;21|11	Hom;A>T	986;0|33
N	N	-	2	30955528	30955528	C	A	snp	intronic	 	 	 	 	CAPN13	Capn13	ENSG00000162949	calpain 13	chr2:30945637-31043408	The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]	hypertension; Iron; Body Weight; Erythrocytes; Blood Coagulation Factors; Tobacco Use Disorder	 	Degradation of the extracellular matrix	GO:0006508;proteolysis;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA	GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAPN13			https://www.ncbi.nlm.nih.gov/omim/?term=610228	http://www.informatics.jax.org/searchtool/Search.do?query=CAPN13&submit=Quick%0D%10840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPN13	rs2276567	0.790535	0	0	1	0	0	intronic	intronic	intronic	CAPN13	CAPN13	ENSG00000162949	Na	Na	Na	Na	Na	Na	Het;C>A	355;2|14	Hom;C>A	311;0|10
N	N	-	2	30999023	30999024	AT	A	indel	intronic	 	 	 	 	CAPN13	Capn13	ENSG00000162949	calpain 13	chr2:30945637-31043408	The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]	hypertension; Iron; Body Weight; Erythrocytes; Blood Coagulation Factors; Tobacco Use Disorder	 	Degradation of the extracellular matrix	GO:0006508;proteolysis;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA	GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAPN13			https://www.ncbi.nlm.nih.gov/omim/?term=610228	http://www.informatics.jax.org/searchtool/Search.do?query=CAPN13&submit=Quick%0D%10840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPN13	rs397871897	0.423323	0	0	1	0	0	intronic	intronic	intronic	CAPN13	CAPN13	ENSG00000162949	Na	Na	Na	Na	Na	Na	Het;-T	96;8|7	Hom;-T	173;0|8
N	N	-	2	3152915	3152915	G	C	snp	intergenic	 	 	 	 	AC019118.2																		rs4241313	0.652955	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01250(dist=23117),TSSC1(dist=39826)	AK095310(dist=23117),TSSC1(dist=39826)	ENSG00000236760(dist=3364),ENSG00000226649(dist=7612)	Na	Na	Na	Na	Na	Na	Het;G>C	37;2|2	Hom;G>C	71;0|4
N	N	-	2	31570376	31570376	T	C	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs1366813	0.777356	0.7517	0.7785	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;T>C	792;25|37	Hom;T>C	994;0|39
N	N	-	2	31570626	31570626	C	T	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs4952083	0.796725	0	0	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;C>T	35;7|2	Hom;C>T	332;0|8
N	N	-	2	31570631	31570631	A	G	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs4952084	0.797125	0	0	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;A>G	35;7|2	Hom;A>G	332;0|8
N	N	-	2	31571241	31571241	G	C	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs13415401	0.768371	0.7430	0.7761	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;G>C	899;26|41	Hom;G>C	1409;0|51
N	N	-	2	31571786	31571786	A	G	snp	synonymous SNV	T3030C	F1010F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs1884725	0.79992	0.7730	0.7863	1	0	0	exonic	exonic	exonic	XDH	XDH	ENSG00000158125	synonymous SNV	synonymous SNV	unknown	XDH:NM_000379:exon27:c.T3030C:p.F1010F,	XDH:uc002rnv.1:exon27:c.T3030C:p.F1010F,	UNKNOWN	Het;A>G	911;62|43	Hom;A>G	3329;0|121
N	N	-	2	31572482	31572482	T	TG	indel	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs11408029	0	0	0	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;+G	260;19|12	Hom;+G	809;0|26
N	N	-	2	31588288	31588288	T	A	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs2365842	0.662141	0.6323	0.7093	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;T>A	459;29|21	Hom;T>A	1419;0|52
N	N	-	2	31590759	31590759	C	T	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs2281550	0.253195	0	0	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;C>T	314;13|14	Hom;C>T	479;0|18
N	N	-	2	31596955	31596955	G	A	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs4952086	0.438099	0	0	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;G>A	128;4|4	Hom;G>A	263;0|7
N	N	-	2	31596963	31596963	T	C	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs4952087	0.439097	0	0	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;T>C	128;4|4	Hom;T>C	268;0|6
N	N	-	2	31600146	31600146	T	C	snp	intronic	 	 	 	 	XDH	Xdh	ENSG00000158125	xanthine dehydrogenase	chr2:31557187-31637581	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]	Hearing Loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammatory Bowel Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood pressure, oxidative stress levels in blood; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Artery Diseases|Hypertension|Kidney Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Hypertrophy, Left Ventricular; Meningeal Neoplasms|meningioma; inflammatory bowel disease ; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.	Butyrophilin (BTN) family interactions	GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007595;lactation;IEA|GO:0009115;xanthine catabolic process;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0045602;negative regulation of endothelial cell differentiation;IDA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0055114;oxidation-reduction process;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA|GO:2001213;negative regulation of vasculogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005829;cytosol;TAS|GO:0016529;sarcoplasmic reticulum;IEA	GO:0003824;catalytic activity;IEA|GO:0004854;xanthine dehydrogenase activity;IEA|GO:0004855;xanthine oxidase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0016903;oxidoreductase activity, acting on the aldehyde or oxo group of donors;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0043546;molybdopterin cofactor binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/XDH		https://hpo.jax.org/app/browse/search?q=XDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607633	http://www.informatics.jax.org/searchtool/Search.do?query=XDH&submit=Quick%0D%10173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XDH	rs10187719	0.750799	0.7377	0.7320	1	0	0	intronic	intronic	intronic	XDH	XDH	ENSG00000158125	Na	Na	Na	Na	Na	Na	Het;T>C	105;11|6	Hom;T>C	324;0|10
N	N	-	2	32381109	32381109	G	T	snp	UTR3	*1544G>T	 	 	 	SPAST	Spast	ENSG00000021574	spastin	chr2:32288680-32382706	This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]	Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Spastic Paraplegia, Hereditary; spastic paralysis; HIV Infections|[X]Human immunodeficiency virus disease; cognitive impairment; hereditary spastic paraparesis due to a frame shift mutat; spastic paraplegia; multiple sclerosis	Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities.		GO:0000281;mitotic cytokinesis;IMP|GO:0001578;microtubule bundle formation;IDA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0008089;anterograde axonal transport;ISS|GO:0008152;metabolic process;IEA|GO:0010458;exit from mitosis;IMP|GO:0019896;axonal transport of mitochondrion;ISS|GO:0030154;cell differentiation;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0031468;nuclear envelope reassembly;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0032506;cytokinetic process;IEA|GO:0034214;protein hexamerization;IEA|GO:0051013;microtubule severing;IEA|GO:0051228;mitotic spindle disassembly;IMP|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0090148;membrane fission;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005811;lipid particle;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030496;midbody;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:1904115;axon cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008568;microtubule-severing ATPase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043014;alpha-tubulin binding;IPI|GO:0048487;beta-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPAST	https://www.uniprot.org/uniprot/Q9UBP0	https://hpo.jax.org/app/browse/search?q=SPAST&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604277	http://www.informatics.jax.org/searchtool/Search.do?query=SPAST&submit=Quick%0D%665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAST	rs6709048	0.341853	0	0	1	0	0	UTR3	UTR3	UTR3	SPAST(NM_014946:c.*1544G>T,NM_199436:c.*1544G>T)	SPAST(uc002roc.3:c.*1544G>T,uc002rod.3:c.*1544G>T)	ENSG00000021574(ENST00000345662:c.*1544G>T,ENST00000315285:c.*1544G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	195;19|13	Hom;G>T	913;0|29
N	N	-	2	32667562	32667562	A	G	snp	intronic	 	 	 	 	BIRC6	Birc6	ENSG00000115760	baculoviral IAP repeat containing 6	chr2:32582096-32843966	This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008]	longevity; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	Homozygous mice exhibit perinatal lethality and exhibit placental defects.		GO:0001890;placenta development;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0016567;protein ubiquitination;TAS|GO:0032465;regulation of cytokinesis;IMP|GO:0042127;regulation of cell proliferation;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0051301;cell division;IEA|GO:0060711;labyrinthine layer development;IEA|GO:0060712;spongiotrophoblast layer development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0061631;ubiquitin conjugating enzyme activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BIRC6	https://www.uniprot.org/uniprot/Q9NR09		https://www.ncbi.nlm.nih.gov/omim/?term=605638	http://www.informatics.jax.org/searchtool/Search.do?query=BIRC6&submit=Quick%0D%4655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC6	rs2276592	0.308506	0.1981	0.2975	1	0	0	intronic	intronic	intronic	BIRC6	BIRC6	ENSG00000115760	Na	Na	Na	Na	Na	Na	Het;A>G	699;21|30	Hom;A>G	1425;0|46
N	N	-	2	32961858	32961858	A	G	snp	nonsynonymous SNV	A1427G	Y476C	aromatic,polar,hydrophobic	polar,hydrophobic,neutral	TTC27	Ttc27	ENSG00000018699	tetratricopeptide repeat domain 27	chr2:32853099-33046118		Calcium; Tobacco Use Disorder; Eosinophils	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TTC27	https://www.uniprot.org/uniprot/Q6P3X3			http://www.informatics.jax.org/searchtool/Search.do?query=TTC27&submit=Quick%0D%642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC27	rs2273660	0.128395	0.1334	0.1166	0.62	8	13	exonic	exonic	exonic	TTC27	TTC27	ENSG00000018699	nonsynonymous SNV	nonsynonymous SNV	unknown	TTC27:NM_017735:exon12:c.A1427G:p.Y476C,TTC27:NM_001193509:exon12:c.A1277G:p.Y426C,	TTC27:uc002rom.3:exon12:c.A1427G:p.Y476C,TTC27:uc010ymx.2:exon12:c.A1277G:p.Y426C,	UNKNOWN	Het;A>G	878;52|46	Hom;A>G	3548;0|129
N	N	-	2	33127080	33127080	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00486																		rs6716986	0.153754	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LINC00486	LINC00486	ENSG00000230876	Na	Na	Na	Na	Na	Na	Het;T>C	43;3|3	Hom;T>C	160;0|7
N	N	-	2	33127244	33127244	C	CT	indel	ncRNA_intronic	 	 	 	 	LINC00486																		rs11417708	0.386382	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LINC00486	LINC00486	ENSG00000230876	Na	Na	Na	Na	Na	Na	Het;+T	448;23|15	Hom;+T	1295;0|33
N	N	-	2	33290980	33290980	G	A	snp	intronic	 	 	 	 	LTBP1	Ltbp1	ENSG00000049323	latent transforming growth factor beta binding protein 1	chr2:33172039-33624576	The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides	Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract.	Post-translational protein phosphorylation	GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA	GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA	GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LTBP1	https://www.uniprot.org/uniprot/Q14766		https://www.ncbi.nlm.nih.gov/omim/?term=150390	http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1	rs219084	0.56869	0	0	1	0	0	intronic	intronic	intronic	LTBP1	LTBP1	ENSG00000049323	Na	Na	Na	Na	Na	Na	Het;G>A	395;19|20	Hom;G>A	1128;0|43
N	N	-	2	33744958	33744958	C	T	snp	intronic	 	 	 	 	RASGRP3	Rasgrp3	ENSG00000152689	RAS guanyl releasing protein 3	chr2:33661391-33789817	Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]	systemic lupus erythematosus; Tobacco Use Disorder; Lupus Erythematosus, Systemic; hypertension (young onset); Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Blood Pressure; Hypertension	Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007265;Ras protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0032045;guanyl-nucleotide exchange factor complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004871;signal transducer activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IDA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASGRP3	https://www.uniprot.org/uniprot/Q8IV61		https://www.ncbi.nlm.nih.gov/omim/?term=609531	http://www.informatics.jax.org/searchtool/Search.do?query=RASGRP3&submit=Quick%0D%9582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRP3	rs7597095	0.486022	0.5753	0	1	0	0	intronic	intronic	intronic	RASGRP3	RASGRP3	ENSG00000152689	Na	Na	Na	Na	Na	Na	Het;C>T	378;16|18	Hom;C>T	807;0|31
N	N	-	2	33747285	33747285	G	A	snp	intronic	 	 	 	 	RASGRP3	Rasgrp3	ENSG00000152689	RAS guanyl releasing protein 3	chr2:33661391-33789817	Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]	systemic lupus erythematosus; Tobacco Use Disorder; Lupus Erythematosus, Systemic; hypertension (young onset); Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Blood Pressure; Hypertension	Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007265;Ras protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0032045;guanyl-nucleotide exchange factor complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004871;signal transducer activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IDA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASGRP3	https://www.uniprot.org/uniprot/Q8IV61		https://www.ncbi.nlm.nih.gov/omim/?term=609531	http://www.informatics.jax.org/searchtool/Search.do?query=RASGRP3&submit=Quick%0D%9582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRP3	rs2305573	0.825879	0	0	1	0	0	intronic	intronic	intronic	RASGRP3	RASGRP3	ENSG00000152689	Na	Na	Na	Na	Na	Na	Het;G>A	361;12|14	Hom;G>A	259;0|8
N	N	-	2	33748838	33748838	A	G	snp	intronic	 	 	 	 	RASGRP3	Rasgrp3	ENSG00000152689	RAS guanyl releasing protein 3	chr2:33661391-33789817	Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]	systemic lupus erythematosus; Tobacco Use Disorder; Lupus Erythematosus, Systemic; hypertension (young onset); Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Blood Pressure; Hypertension	Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007265;Ras protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0032045;guanyl-nucleotide exchange factor complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004871;signal transducer activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IDA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASGRP3	https://www.uniprot.org/uniprot/Q8IV61		https://www.ncbi.nlm.nih.gov/omim/?term=609531	http://www.informatics.jax.org/searchtool/Search.do?query=RASGRP3&submit=Quick%0D%9582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRP3	rs2305571	0.283147	0	0	1	0	0	intronic	intronic	intronic	RASGRP3	RASGRP3	ENSG00000152689	Na	Na	Na	Na	Na	Na	Het;A>G	151;5|5	Hom;A>G	181;0|5
N	N	-	2	33764286	33764286	T	C	snp	unknown	 	 	 	 	RASGRP3	Rasgrp3	ENSG00000152689	RAS guanyl releasing protein 3	chr2:33661391-33789817	Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]	systemic lupus erythematosus; Tobacco Use Disorder; Lupus Erythematosus, Systemic; hypertension (young onset); Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Blood Pressure; Hypertension	Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007265;Ras protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0032045;guanyl-nucleotide exchange factor complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0004871;signal transducer activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IDA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASGRP3	https://www.uniprot.org/uniprot/Q8IV61		https://www.ncbi.nlm.nih.gov/omim/?term=609531	http://www.informatics.jax.org/searchtool/Search.do?query=RASGRP3&submit=Quick%0D%9582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRP3	rs7592762	0.330072	0.3950	0.4459	1	0	0	intronic	intronic	exonic	RASGRP3	RASGRP3	ENSG00000152689	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	858;39|38	Hom;T>C	2139;5|79
N	N	-	2	33784161	33784161	G	A	snp	ncRNA_intronic	 	 	 	 	AC020594.1																		rs2278955	0.249201	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RASGRP3	RASGRP3	ENSG00000237133	Na	Na	Na	Na	Na	Na	Het;G>A	183;21|9	Hom;G>A	227;0|9
N	N	-	2	34938585	34938585	T	C	snp	ncRNA_intronic	 	 	 	 	LINC01320																		rs6715411	0.262181	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01320	Mir_548(dist=309763),LOC100288911(dist=1643307)	ENSG00000228262	Na	Na	Na	Na	Na	Na	Het;T>C	260;25|13	Hom;T>C	1097;0|35
N	N	-	2	34938741	34938741	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01320																		rs6757643	0.408147	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01320	Mir_548(dist=309919),LOC100288911(dist=1643151)	ENSG00000228262	Na	Na	Na	Na	Na	Na	Het;C>T	1340;71|66	Hom;C>T	5437;1|207
N	N	-	2	34947442	34947442	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01320																		rs3731954	0.212859	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01320	Mir_548(dist=318620),LOC100288911(dist=1634450)	ENSG00000228262	Na	Na	Na	Na	Na	Na	Het;A>C	1931;60|89	Hom;A>C	4963;1|181
N	N	-	2	35147700	35147704	TTATA	T	indel	ncRNA_intronic	 	 	 	 	AC012593.1																		rs10547576	0.659545	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01320(dist=200070),LOC100288911(dist=1434188)	Mir_548(dist=518878),LOC100288911(dist=1434188)	ENSG00000226994	Na	Na	Na	Na	Na	Na	Het;-TATA	86;1|3	Hom;-TATA	136;0|4
N	N	-	2	35197513	35197513	G	A	snp	ncRNA_intronic	 	 	 	 	AC012593.1																		rs6543890	0.795327	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01320(dist=249883),LOC100288911(dist=1384379)	Mir_548(dist=568691),LOC100288911(dist=1384379)	ENSG00000226994	Na	Na	Na	Na	Na	Na	Het;G>A	132;9|7	Hom;G>A	409;0|16
N	N	-	2	3623540	3623540	A	G	snp	intronic	 	 	 	 	RPS7	Rps7	ENSG00000171863	ribosomal protein S7	chr2:3622795-3628509	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]	DIAMOND-BLACKFAN ANEMIA 8	Mice heterozygous for this ENU-induced mutation exhibit a white ventral patch and an extremely kinked or looped tail. Homozygotes exhibit an open hindbrain and defective neural crest production at E9.5.	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0001843;neural tube closure;IEA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0019083;viral transcription;TAS|GO:0030154;cell differentiation;IEA|GO:0042274;ribosomal small subunit biogenesis;IMP|GO:0050821;protein stabilization;IMP|GO:1902255;positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:1904667;negative regulation of ubiquitin protein ligase activity;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IMP|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI|GO:0048027;mRNA 5'-UTR binding;IDA|GO:1990948;ubiquitin ligase inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPS7		https://hpo.jax.org/app/browse/search?q=RPS7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603658	http://www.informatics.jax.org/searchtool/Search.do?query=RPS7&submit=Quick%0D%13033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS7	rs3087873	0.835264	0.7486	0	1	0	0	intronic	intronic	intronic	RPS7	RPS7	ENSG00000171863	Na	Na	Na	Na	Na	Na	Het;A>G	551;40|28	Hom;A>G	1463;0|51
N	N	-	2	3627648	3627648	G	C	snp	intronic	 	 	 	 	RPS7	Rps7	ENSG00000171863	ribosomal protein S7	chr2:3622795-3628509	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]	DIAMOND-BLACKFAN ANEMIA 8	Mice heterozygous for this ENU-induced mutation exhibit a white ventral patch and an extremely kinked or looped tail. Homozygotes exhibit an open hindbrain and defective neural crest production at E9.5.	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0001843;neural tube closure;IEA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0019083;viral transcription;TAS|GO:0030154;cell differentiation;IEA|GO:0042274;ribosomal small subunit biogenesis;IMP|GO:0050821;protein stabilization;IMP|GO:1902255;positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:1904667;negative regulation of ubiquitin protein ligase activity;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IMP|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI|GO:0048027;mRNA 5'-UTR binding;IDA|GO:1990948;ubiquitin ligase inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RPS7		https://hpo.jax.org/app/browse/search?q=RPS7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603658	http://www.informatics.jax.org/searchtool/Search.do?query=RPS7&submit=Quick%0D%13033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS7	rs7576238	0.902556	0.8185	0	1	0	0	intronic	intronic	intronic	RPS7	RPS7	ENSG00000171863	Na	Na	Na	Na	Na	Na	Het;G>C	547;43|30	Hom;G>C	2011;0|73
N	N	-	2	3660752	3660752	T	C	snp	intronic	 	 	 	 	COLEC11	Colec11	ENSG00000118004	collectin subfamily member 11	chr2:3642426-3692048	This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Kidney Diseases; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for a knockout allele exhibit decreased susceptibility to kidney reperfusion injury.	Scavenging by Class A Receptors	GO:0001867;complement activation, lectin pathway;TAS|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006956;complement activation;TAS|GO:0007275;multicellular organism development;IEA|GO:0032502;developmental process;ISS	GO:0005576;extracellular region;TAS|GO:0005581;collagen trimer;IEA	GO:0004252;serine-type endopeptidase activity;TAS|GO:0005537;mannose binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COLEC11	https://www.uniprot.org/uniprot/Q9BWP8	https://hpo.jax.org/app/browse/search?q=COLEC11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612502	http://www.informatics.jax.org/searchtool/Search.do?query=COLEC11&submit=Quick%0D%4935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COLEC11	rs3811531	0.575879	0	0	1	0	0	intronic	intronic	intronic	COLEC11	COLEC11	ENSG00000118004	Na	Na	Na	Na	Na	Na	Het;T>C	64;6|3	Hom;T>C	432;0|12
N	N	-	2	3665138	3665138	C	T	snp	ncRNA_exonic	 	 	 	 	BC113076																		rs11892595	0.721845	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	COLEC11	BC113076	ENSG00000188765	Na	Na	Na	Na	Na	Na	Het;C>T	95;1|3	Hom;C>T	242;0|6
N	N	-	2	3665146	3665146	T	C	snp	ncRNA_exonic	 	 	 	 	BC113076																		rs11896016	0.721645	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	COLEC11	BC113076	ENSG00000188765	Na	Na	Na	Na	Na	Na	Het;T>C	95;1|3	Hom;T>C	242;0|6
N	N	-	2	36740643	36740643	C	G	snp	ncRNA_exonic	 	 	 	 	AC007378.1																		rs2293254	0.322684	0	0	1	0	0	intronic	intronic	ncRNA_exonic	CRIM1	CRIM1	ENSG00000273090	Na	Na	Na	Na	Na	Na	Het;C>G	337;11|12	Hom;C>G	382;0|12
N	N	-	2	37111045	37111045	T	A	snp	intronic	 	 	 	 	STRN	Strn	ENSG00000115808	striatin	chr2:37070783-37193615		Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke	Mice heterozygous for a knock-out allele exhibit increased blood pressure and circulating aldosterone when fed a liberal salt diet. No mice could be generated that were homozygous for the allele.		GO:0007626;locomotory behavior;ISS|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016055;Wnt signaling pathway;IMP|GO:0016358;dendrite development;ISS|GO:0070830;bicellular tight junction assembly;NAS	GO:0000159;protein phosphatase type 2A complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005923;bicellular tight junction;IDA|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0045211;postsynaptic membrane;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0030331;estrogen receptor binding;IPI|GO:0032403;protein complex binding;IDA|GO:0051721;protein phosphatase 2A binding;IDA|GO:0070016;armadillo repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STRN	https://www.uniprot.org/uniprot/O43815		https://www.ncbi.nlm.nih.gov/omim/?term=614765	http://www.informatics.jax.org/searchtool/Search.do?query=STRN&submit=Quick%0D%4659ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STRN	rs2691106	0.33746	0.4230	0.4755	1	0	0	intronic	intronic	intronic	STRN	STRN	ENSG00000115808	Na	Na	Na	Na	Na	Na	Het;T>A	404;25|19	Hom;T>A	1370;0|53
N	N	-	2	37700102	37700102	G	T	snp	intergenic	 	 	 	 	RNU6-1116P																		rs7585312	0.162141	0	0	1	0	0	intergenic	intergenic	intergenic	QPCT(dist=99637),CDC42EP3(dist=168923)	U6(dist=37351),CDC42EP3(dist=168923)	ENSG00000253078(dist=37351),ENSG00000236213(dist=127177)	Na	Na	Na	Na	Na	Na	Het;G>T	93;14|7	Hom;G>T	556;0|22
N	N	-	2	38056735	38056735	C	G	snp	ncRNA_exonic	 	 	 	 	LINC00211																		rs4143263	0.799121	0	0	1	0	0	ncRNA_exonic	upstream	ncRNA_intronic	LINC00211	AK057187	ENSG00000237803	Na	Na	Na	Na	Na	Na	Het;C>G	1180;86|61	Hom;C>G	2603;0|93
N	N	-	2	38056951	38056951	G	A	snp	upstream	 	 	 	 	AK057187																		rs4143265	0.800519	0	0	1	0	0	ncRNA_intronic	upstream	ncRNA_intronic	LINC00211	AK057187	ENSG00000237803	Na	Na	Na	Na	Na	Na	Het;G>A	165;3|9	Hom;G>A	324;1|15
N	N	-	2	3815532	3815532	A	AT	indel	intronic	 	 	 	 	DCDC2C	Dcdc2c	ENSG00000214866	doublecortin domain containing 2C	chr2:3751453-3836122		Cholesterol, HDL; Asthma; Insulin; Body Height; Blood Pressure; Parkinson Disease; Body Weight; Diabetes Mellitus, Type 2; Hemoglobin A, Glycosylated; Coronary Artery Disease; Body Mass Index; Heart Failure; Body Weights and Measures; Pancreatic Neoplasms; Heart Rate	 		GO:0035556;intracellular signal transduction;IEA	GO:0005622;intracellular;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DCDC2C				http://www.informatics.jax.org/searchtool/Search.do?query=DCDC2C&submit=Quick%0D%18283ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCDC2C	rs11404437	0.413938	0	0	1	0	0	intronic	intergenic	intronic	DCDC2C	ALLC(dist=65272),LOC100505964(dist=189713)	ENSG00000214866	Na	Na	Na	Na	Na	Na	Het;+T	164;2|9	Hom;+T	456;0|20
N	N	-	2	38177525	38177525	A	C	snp	ncRNA_exonic	 	 	 	 	RMDN2-AS1																		rs11687301	0.342851	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RMDN2-AS1	RMDN2-AS1	ENSG00000235848	Na	Na	Na	Na	Na	Na	Het;A>C	955;58|44	Hom;A>C	2275;1|79
N	N	-	2	38177777	38177777	A	G	snp	ncRNA_intronic	 	 	 	 	RMDN2-AS1																		rs141913707	0.0119808	0.0019	0.0096	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	RMDN2-AS1	RMDN2-AS1	ENSG00000235848	Na	Na	Na	Na	Na	Na	Het;A>G	1073;54|43	Hom;A>G	2482;0|79
N	N	-	2	38178406	38178406	A	G	snp	synonymous SNV	A48G	R16R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	RMDN2	Rmdn2	ENSG00000115841	regulator of microtubule dynamics 2	chr2:38150330-38294285		Tobacco Use Disorder; lung cancer; bladder cancer; Erectile Dysfunction; lung cancer ; normal variation; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RMDN2	https://www.uniprot.org/uniprot/Q96LZ7		https://www.ncbi.nlm.nih.gov/omim/?term=611872	http://www.informatics.jax.org/searchtool/Search.do?query=RMDN2&submit=Quick%0D%4666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RMDN2	rs4670799	0.328275	0.4108	0.4304	1	0	0	exonic	exonic	exonic	RMDN2	RMDN2	ENSG00000115841	synonymous SNV	synonymous SNV	unknown	RMDN2:NM_144713:exon2:c.A48G:p.R16R,	RMDN2:uc002rqn.2:exon2:c.A48G:p.R16R,	UNKNOWN	Het;A>G	484;37|19	Hom;A>G	1787;1|63
N	N	-	2	38179414	38179416	CTG	C	indel	unknown	 	 	 	 	RMDN2	Rmdn2	ENSG00000115841	regulator of microtubule dynamics 2	chr2:38150330-38294285		Tobacco Use Disorder; lung cancer; bladder cancer; Erectile Dysfunction; lung cancer ; normal variation; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration	 			GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RMDN2	https://www.uniprot.org/uniprot/Q96LZ7		https://www.ncbi.nlm.nih.gov/omim/?term=611872	http://www.informatics.jax.org/searchtool/Search.do?query=RMDN2&submit=Quick%0D%4666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RMDN2	rs59393160	0.327276	0	0.4451	1	0	0	ncRNA_intronic	ncRNA_intronic	exonic	RMDN2-AS1	RMDN2-AS1	ENSG00000115841	Na	Na	unknown	Na	Na	UNKNOWN	Het;-TG	524;9|14	Hom;-TG	683;0|16
N	N	-	2	38190271	38190271	C	T	snp	ncRNA_exonic	 	 	 	 	RMDN2-AS1																		rs11691244	0.322484	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RMDN2-AS1	RMDN2-AS1	ENSG00000235848	Na	Na	Na	Na	Na	Na	Het;C>T	111;9|7	Hom;C>T	409;0|16
N	N	-	2	38296890	38296890	T	C	snp	UTR3	*975A>G	 	 	 	CYP1B1	Cyp1b1	ENSG00000138061	cytochrome P450 family 1 subfamily B member 1	chr2:38294116-38337044	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]	ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma	Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities.	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1	https://www.uniprot.org/uniprot/Q16678	https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601771	http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1	rs2855658	0.616613	0	0	1	0	0	UTR3	UTR3	UTR3	CYP1B1(NM_000104:c.*975A>G)	CYP1B1(uc002rqo.2:c.*975A>G)	ENSG00000138061(ENST00000260630:c.*975A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1191;51|58	Hom;T>C	2559;0|90
N	N	-	2	38297654	38297654	C	CA	indel	UTR3	*211G>TG	 	 	 	CYP1B1	Cyp1b1	ENSG00000138061	cytochrome P450 family 1 subfamily B member 1	chr2:38294116-38337044	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]	ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma	Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities.	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1	https://www.uniprot.org/uniprot/Q16678	https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601771	http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1	rs4646431	0.52496	0	0	1	0	0	UTR3	UTR3	UTR3	CYP1B1(NM_000104:c.*211G>TG)	CYP1B1(uc002rqo.2:c.*211G>TG)	ENSG00000138061(ENST00000260630:c.*211G>TG,ENST00000407341:c.*211G>TG)	Na	Na	Na	Na	Na	Na	Het;+A	253;16|13	Hom;+A	973;0|36
N	N	-	2	38298150	38298150	A	G	snp	synonymous SNV	T1347C	D449D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CYP1B1	Cyp1b1	ENSG00000138061	cytochrome P450 family 1 subfamily B member 1	chr2:38294116-38337044	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]	ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma	Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities.	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1	https://www.uniprot.org/uniprot/Q16678	https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601771	http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1	rs1056837	0.620208	0.4537	0.6220	1	0	0	exonic	exonic	exonic	CYP1B1	CYP1B1	ENSG00000138061	synonymous SNV	synonymous SNV	unknown	CYP1B1:NM_000104:exon3:c.T1347C:p.D449D,	CYP1B1:uc002rqo.2:exon3:c.T1347C:p.D449D,	UNKNOWN	Het;A>G	1620;92|75	Hom;A>G	3965;0|138
N	N	-	2	38298203	38298203	C	G	snp	nonsynonymous SNV	G1294C	V432L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CYP1B1	Cyp1b1	ENSG00000138061	cytochrome P450 family 1 subfamily B member 1	chr2:38294116-38337044	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]	ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma	Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities.	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1	https://www.uniprot.org/uniprot/Q16678	https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601771	http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1	rs1056836	0.614816	0.4456	0.6195	1	0	0	exonic	exonic	exonic	CYP1B1	CYP1B1	ENSG00000138061	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP1B1:NM_000104:exon3:c.G1294C:p.V432L,	CYP1B1:uc002rqo.2:exon3:c.G1294C:p.V432L,	UNKNOWN	Het;C>G	1352;74|63	Hom;C>G	3383;0|115
N	N	-	2	38302177	38302177	C	A	snp	nonsynonymous SNV	G355T	A119S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CYP1B1	Cyp1b1	ENSG00000138061	cytochrome P450 family 1 subfamily B member 1	chr2:38294116-38337044	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]	ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma	Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities.	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1	https://www.uniprot.org/uniprot/Q16678	https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601771	http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1	rs1056827	0.36242	0.3365	0.4120	0.10	1	10	exonic	exonic	exonic	CYP1B1	CYP1B1	ENSG00000138061	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP1B1:NM_000104:exon2:c.G355T:p.A119S,	CYP1B1:uc002rqo.2:exon2:c.G355T:p.A119S,	UNKNOWN	Het;C>A	862;27|39	Hom;C>A	2705;0|106
N	N	-	2	38302390	38302390	G	C	snp	nonsynonymous SNV	C142G	R48G	polar,hydrophilic,charged(+)	aliphatic,neutral	CYP1B1	Cyp1b1	ENSG00000138061	cytochrome P450 family 1 subfamily B member 1	chr2:38294116-38337044	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]	ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma	Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities.	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1	https://www.uniprot.org/uniprot/Q16678	https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601771	http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1	rs10012	0.3748	0.3499	0.3777	0.10	1	10	exonic	exonic	exonic	CYP1B1	CYP1B1	ENSG00000138061	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP1B1:NM_000104:exon2:c.C142G:p.R48G,	CYP1B1:uc002rqo.2:exon2:c.C142G:p.R48G,	UNKNOWN	Het;G>C	774;30|34	Hom;G>C	1635;0|58
N	N	-	2	38302544	38302544	G	A	snp	intronic	 	 	 	 	CYP1B1	Cyp1b1	ENSG00000138061	cytochrome P450 family 1 subfamily B member 1	chr2:38294116-38337044	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]	ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma	Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities.	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1	https://www.uniprot.org/uniprot/Q16678	https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601771	http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1	rs2617266	0.294129	0.2677	0.2993	1	0	0	intronic	intronic	intronic	CYP1B1	CYP1B1	ENSG00000138061	Na	Na	Na	Na	Na	Na	Het;G>A	624;43|31	Hom;G>A	1869;0|68
N	N	-	2	38604505	38604526	TCTCCGCCTGTATCTCCTCGCC	T	indel	upstream	 	 	 	 	ATL2	Atl2	ENSG00000119787	atlastin GTPase 2	chr2:38522022-38604427		Bone Density	 		GO:0007029;endoplasmic reticulum organization;IMP|GO:0007030;Golgi organization;IMP|GO:0051260;protein homooligomerization;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;NAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ATL2	https://www.uniprot.org/uniprot/Q8NHH9		https://www.ncbi.nlm.nih.gov/omim/?term=609368	http://www.informatics.jax.org/searchtool/Search.do?query=ATL2&submit=Quick%0D%5120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATL2	rs749775299	0	0	0	1	0	0	upstream	upstream	upstream	ATL2	ATL2	ENSG00000119787	Na	Na	Na	Na	Na	Na	Het;-CTCCGCCTGTATCTCCTCGCC	204;6|7	Hom;-CTCCGCCTGTATCTCCTCGCC	539;2|23
N	N	-	2	38742640	38742640	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101929596																		rs4566347	0.624201	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929596	ATL2(dist=138208),HNRPLL(dist=47688)	ENSG00000231367	Na	Na	Na	Na	Na	Na	Het;C>T	936;43|43	Hom;C>T	1478;0|56
N	N	-	2	38742772	38742772	C	G	snp	ncRNA_exonic	 	 	 	 	LOC101929596																		rs11893988	0.624201	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929596	ATL2(dist=138340),HNRPLL(dist=47556)	ENSG00000231367	Na	Na	Na	Na	Na	Na	Het;C>G	312;37|16	Hom;C>G	911;0|29
N	N	-	2	3943910	3943910	G	GT	indel	intergenic	 	 	 	 	ENSG00000227363																		rs34560419	0.702276	0	0	1	0	0	intergenic	intergenic	intergenic	DCDC2C(dist=48910),LINC01304(dist=61335)	ALLC(dist=193650),LOC100505964(dist=61335)	ENSG00000227363(dist=48909),ENSG00000237401(dist=61335)	Na	Na	Na	Na	Na	Na	Het;+T	135;13|8	Hom;+T	638;0|23
N	N	-	2	40402275	40402275	G	A	snp	ncRNA_intronic	 	 	 	 	SLC8A1-AS1																		rs6734847	0.513179	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SLC8A1-AS1	SLC8A1-AS1	ENSG00000227028	Na	Na	Na	Na	Na	Na	Het;G>A	166;2|7	Hom;G>A	249;0|8
N	N	-	2	40481544	40481544	G	GT	indel	ncRNA_intronic	 	 	 	 	SLC8A1-AS1																		rs530478507	0.256589	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SLC8A1-AS1	SLC8A1-AS1	ENSG00000227028	Na	Na	Na	Na	Na	Na	Het;+T	188;13|14	Hom;+T	482;1|22
N	N	-	2	41807475	41807475	G	A	snp	intergenic	 	 	 	 	HNRNPA1P57																		rs13016395	0.399561	0	0	1	0	0	intergenic	intergenic	intergenic	SLC8A1(dist=1067900),LOC388942(dist=297220)	Mir_584(dist=247560),Y_RNA(dist=276936)	ENSG00000237442(dist=422780),ENSG00000221372(dist=16051)	Na	Na	Na	Na	Na	Na	Het;G>A	183;14|11	Hom;G>A	672;0|25
N	N	-	2	42396722	42396722	A	G	snp	ncRNA_exonic	 	 	 	 	AC083949.1																		rs7233	0.698882	0.7076	0.6988	1	0	0	ncRNA_intronic	UTR5	ncRNA_exonic	LOC102723824	EML4(uc002rsh.4:c.-30A>G,uc002rsi.3:c.-30A>G,uc010fap.3:c.-30A>G)	ENSG00000224875	Na	Na	Na	Na	Na	Na	Het;A>G	595;47|32	Hom;A>G	2069;0|73
N	N	-	2	42397165	42397165	C	G	snp	ncRNA_exonic	 	 	 	 	LOC102723824																		rs11900678	0.699281	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC102723824	EML4	ENSG00000224875	Na	Na	Na	Na	Na	Na	Het;C>G	397;12|18	Hom;C>G	1118;0|42
N	N	-	2	42836516	42836516	A	G	snp	intronic	 	 	 	 	MTA3	Mta3	ENSG00000057935	metastasis associated 1 family member 3	chr2:42721709-42984087		breast cancer; Diabetes Mellitus; Attention Deficit Disorder with Hyperactivity	 	Regulation of PTEN gene transcription	GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IEA|GO:0016575;histone deacetylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0032403;protein complex binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTA3	https://www.uniprot.org/uniprot/Q9BTC8		https://www.ncbi.nlm.nih.gov/omim/?term=609050	http://www.informatics.jax.org/searchtool/Search.do?query=MTA3&submit=Quick%0D%1026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTA3	rs6720277	0.828674	0	0	1	0	0	intronic	intronic	intronic	MTA3	MTA3	ENSG00000057935	Na	Na	Na	Na	Na	Na	Het;A>G	183;10|8	Hom;A>G	893;0|24
N	N	-	2	42871144	42871144	C	G	snp	intronic	 	 	 	 	MTA3	Mta3	ENSG00000057935	metastasis associated 1 family member 3	chr2:42721709-42984087		breast cancer; Diabetes Mellitus; Attention Deficit Disorder with Hyperactivity	 	Regulation of PTEN gene transcription	GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IEA|GO:0016575;histone deacetylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0032403;protein complex binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTA3	https://www.uniprot.org/uniprot/Q9BTC8		https://www.ncbi.nlm.nih.gov/omim/?term=609050	http://www.informatics.jax.org/searchtool/Search.do?query=MTA3&submit=Quick%0D%1026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTA3	rs2272448	0.355232	0	0	1	0	0	intronic	intronic	intronic	MTA3	MTA3	ENSG00000057935	Na	Na	Na	Na	Na	Na	Het;C>G	161;2|5	Hom;C>G	314;0|9
N	N	-	2	42989994	42989994	G	T	snp	UTR3	*54C>A	 	 	 	OXER1		ENSG00000162881	oxoeicosanoid receptor 1	chr2:42989642-42991401		ADHD | attention-deficit hyperactivity disorder; hyperactive-impulsive symptoms		G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030817;regulation of cAMP biosynthetic process;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0050646;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050647;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050648;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OXER1				http://www.informatics.jax.org/searchtool/Search.do?query=OXER1&submit=Quick%0D%10820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OXER1	rs2278585	0.334265	0	0	1	0	0	UTR3	UTR3	UTR3	OXER1(NM_148962:c.*54C>A)	OXER1(uc002rss.3:c.*54C>A)	ENSG00000162881(ENST00000378661:c.*54C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	581;45|27	Hom;G>T	1557;0|59
N	N	-	2	42990010	42990010	C	A	snp	UTR3	*38G>T	 	 	 	OXER1		ENSG00000162881	oxoeicosanoid receptor 1	chr2:42989642-42991401		ADHD | attention-deficit hyperactivity disorder; hyperactive-impulsive symptoms		G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030817;regulation of cAMP biosynthetic process;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0050646;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050647;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050648;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OXER1				http://www.informatics.jax.org/searchtool/Search.do?query=OXER1&submit=Quick%0D%10820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OXER1	rs12617777	0.400958	0.2829	0.2960	1	0	0	UTR3	UTR3	UTR3	OXER1(NM_148962:c.*38G>T)	OXER1(uc002rss.3:c.*38G>T)	ENSG00000162881(ENST00000378661:c.*38G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	944;52|45	Hom;C>A	2278;2|87
N	N	-	2	42990101	42990101	G	C	snp	nonsynonymous SNV	C1219G	L407V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OXER1		ENSG00000162881	oxoeicosanoid receptor 1	chr2:42989642-42991401		ADHD | attention-deficit hyperactivity disorder; hyperactive-impulsive symptoms		G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030817;regulation of cAMP biosynthetic process;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0050646;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050647;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050648;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OXER1				http://www.informatics.jax.org/searchtool/Search.do?query=OXER1&submit=Quick%0D%10820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OXER1	rs2278586	0.334864	0.2167	0.2734	0.25	3	12	exonic	exonic	exonic	OXER1	OXER1	ENSG00000162881	nonsynonymous SNV	nonsynonymous SNV	unknown	OXER1:NM_148962:exon1:c.C1219G:p.L407V,	OXER1:uc002rss.3:exon1:c.C1219G:p.L407V,	UNKNOWN	Het;G>C	2132;85|100	Hom;G>C	3046;2|111
N	N	-	2	42990336	42990336	T	G	snp	synonymous SNV	A984C	R328R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	OXER1		ENSG00000162881	oxoeicosanoid receptor 1	chr2:42989642-42991401		ADHD | attention-deficit hyperactivity disorder; hyperactive-impulsive symptoms		G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030817;regulation of cAMP biosynthetic process;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0050646;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050647;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050648;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OXER1				http://www.informatics.jax.org/searchtool/Search.do?query=OXER1&submit=Quick%0D%10820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OXER1	rs1992286	0.780152	0.6605	0.6475	1	0	0	exonic	exonic	exonic	OXER1	OXER1	ENSG00000162881	synonymous SNV	synonymous SNV	unknown	OXER1:NM_148962:exon1:c.A984C:p.R328R,	OXER1:uc002rss.3:exon1:c.A984C:p.R328R,	UNKNOWN	Het;T>G	1458;52|66	Hom;T>G	3075;0|107
N	N	-	2	42990522	42990522	C	T	snp	synonymous SNV	G798A	A266A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OXER1		ENSG00000162881	oxoeicosanoid receptor 1	chr2:42989642-42991401		ADHD | attention-deficit hyperactivity disorder; hyperactive-impulsive symptoms		G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030817;regulation of cAMP biosynthetic process;IDA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0050646;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050647;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050648;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OXER1				http://www.informatics.jax.org/searchtool/Search.do?query=OXER1&submit=Quick%0D%10820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OXER1	rs12712859	0.342252	0.2235	0.3409	1	0	0	exonic	exonic	exonic	OXER1	OXER1	ENSG00000162881	synonymous SNV	synonymous SNV	unknown	OXER1:NM_148962:exon1:c.G798A:p.A266A,	OXER1:uc002rss.3:exon1:c.G798A:p.A266A,	UNKNOWN	Het;C>T	1467;56|66	Hom;C>T	3059;0|114
N	N	-	2	42996759	42996763	AAGAG	A	indel	intronic	 	 	 	 	HAAO	Haao	ENSG00000162882	3-hydroxyanthranilate 3,4-dioxygenase	chr2:42994229-43019733	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated	Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism.	Tryptophan catabolism	GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAAO		https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604521	http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO	rs10535571	0.799121	0	0	1	0	0	intronic	intronic	intronic	HAAO	HAAO	ENSG00000162882	Na	Na	Na	Na	Na	Na	Het;-AGAG	130;10|5	Hom;-AGAG	495;0|12
N	N	-	2	42997614	42997614	G	A	snp	UTR3	*15C>T	 	 	 	HAAO	Haao	ENSG00000162882	3-hydroxyanthranilate 3,4-dioxygenase	chr2:42994229-43019733	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated	Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism.	Tryptophan catabolism	GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAAO		https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604521	http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO	rs2241850	0.408746	0.3084	0.4269	1	0	0	intronic	UTR3	intronic	HAAO	HAAO(uc010ynw.1:c.*15C>T)	ENSG00000162882	Na	Na	Na	Na	Na	Na	Het;G>A	554;26|26	Hom;G>A	1878;2|71
N	N	-	2	43015612	43015612	G	T	snp	intronic	 	 	 	 	HAAO	Haao	ENSG00000162882	3-hydroxyanthranilate 3,4-dioxygenase	chr2:42994229-43019733	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated	Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism.	Tryptophan catabolism	GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAAO		https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604521	http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO	rs3816181	0.858826	0.8038	0	1	0	0	intronic	intronic	intronic	HAAO	HAAO	ENSG00000162882	Na	Na	Na	Na	Na	Na	Het;G>T	99;8|5	Hom;G>T	422;0|14
N	N	-	2	43015704	43015704	T	A	snp	nonsynonymous SNV	A124T	T42S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HAAO	Haao	ENSG00000162882	3-hydroxyanthranilate 3,4-dioxygenase	chr2:42994229-43019733	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated	Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism.	Tryptophan catabolism	GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAAO		https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604521	http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO	rs3816182	0.314696	0.2304	0.2845	0.23	3	13	exonic	exonic	exonic	HAAO	HAAO	ENSG00000162882	nonsynonymous SNV	nonsynonymous SNV	unknown	HAAO:NM_012205:exon2:c.A124T:p.T42S,	HAAO:uc010ynw.1:exon2:c.A124T:p.T42S,HAAO:uc002rst.4:exon2:c.A124T:p.T42S,	UNKNOWN	Het;T>A	586;18|29	Hom;T>A	1015;0|40
N	N	-	2	43015719	43015719	T	C	snp	nonsynonymous SNV	A109G	I37V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HAAO	Haao	ENSG00000162882	3-hydroxyanthranilate 3,4-dioxygenase	chr2:42994229-43019733	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated	Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism.	Tryptophan catabolism	GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAAO		https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604521	http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO	rs3816183	0.859625	0.7936	0.8061	0.15	2	13	exonic	exonic	exonic	HAAO	HAAO	ENSG00000162882	nonsynonymous SNV	nonsynonymous SNV	unknown	HAAO:NM_012205:exon2:c.A109G:p.I37V,	HAAO:uc010ynw.1:exon2:c.A109G:p.I37V,HAAO:uc002rst.4:exon2:c.A109G:p.I37V,	UNKNOWN	Het;T>C	683;16|33	Hom;T>C	1001;0|39
N	N	-	2	43015757	43015757	G	A	snp	intronic	 	 	 	 	HAAO	Haao	ENSG00000162882	3-hydroxyanthranilate 3,4-dioxygenase	chr2:42994229-43019733	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated	Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism.	Tryptophan catabolism	GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAAO		https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604521	http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO	rs3816184	0.858427	0.7936	0.8035	1	0	0	intronic	intronic	intronic	HAAO	HAAO	ENSG00000162882	Na	Na	Na	Na	Na	Na	Het;G>A	594;12|29	Hom;G>A	701;0|25
N	N	-	2	43019730	43019730	A	G	snp	UTR5	-54T>C	 	 	 	HAAO	Haao	ENSG00000162882	3-hydroxyanthranilate 3,4-dioxygenase	chr2:42994229-43019733	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated	Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism.	Tryptophan catabolism	GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAAO		https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604521	http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO	rs2304656	0.858626	0	0	1	0	0	UTR5	UTR5	UTR5	HAAO(NM_012205:c.-54T>C)	HAAO(uc002rst.4:c.-54T>C,uc010ynw.1:c.-54T>C)	ENSG00000162882(ENST00000294973:c.-54T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	300;10|13	Hom;A>G	407;0|15
N	N	-	2	43024676	43024676	C	A	snp	ncRNA_exonic	 	 	 	 	FTOP1																		rs4953664	0.853235	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HAAO(dist=4925),LOC102723854(dist=230316)	HAAO(dist=4925),TRNA_Ile(dist=13000)	ENSG00000226491	Na	Na	Na	Na	Na	Na	Het;C>A	340;13|15	Hom;C>A	742;0|27
N	N	-	2	43025207	43025207	T	C	snp	ncRNA_exonic	 	 	 	 	FTOP1																		rs4952939	0.86242	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HAAO(dist=5456),LOC102723854(dist=229785)	HAAO(dist=5456),TRNA_Ile(dist=12469)	ENSG00000226491	Na	Na	Na	Na	Na	Na	Het;T>C	130;15|10	Hom;T>C	577;0|22
N	N	-	2	43025741	43025741	A	G	snp	ncRNA_exonic	 	 	 	 	FTOP1																		rs4328684	0.86222	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	HAAO(dist=5990),LOC102723854(dist=229251)	HAAO(dist=5990),TRNA_Ile(dist=11935)	ENSG00000226491	Na	Na	Na	Na	Na	Na	Het;A>G	237;8|11	Hom;A>G	555;0|19
N	N	-	2	43169529	43169529	A	C	snp	intergenic	 	 	 	 	AC098824.1																		rs997817	0.304313	0	0	1	0	0	intergenic	intergenic	intergenic	HAAO(dist=149778),LOC102723854(dist=85463)	Mir_548(dist=76840),ZFP36L2(dist=280012)	ENSG00000232202(dist=114772),ENSG00000224739(dist=58966)	Na	Na	Na	Na	Na	Na	Het;A>C	40;2|2	Hom;A>C	215;0|7
N	N	-	2	43799070	43799070	C	T	snp	intronic	 	 	 	 	THADA	Thada	ENSG00000115970	THADA, armadillo repeat containing	chr2:43393800-43823185	This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]	thyroid cancer; Diabetes Mellitus, Type 2; Type 2 diabetes; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; type 2 diabetes; hair morphology; Tobacco Use Disorder; prostate cancer; Prostatic Neoplasms; Cleft Lip; obesity; diabetes, type 2; nonsyndromic cleft lip with or without cleft palate; Hair; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Crohn Disease; Type 2 diabetes|reduced prostate cancer risk; Diabetes Mellitus, Type 2|; diabetes, type 2 | diabetes, type 1; Platelet Count; Polycystic Ovary Syndrome	 	tRNA modification in the nucleus and cytosol		GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/THADA	https://www.uniprot.org/uniprot/Q6YHU6		https://www.ncbi.nlm.nih.gov/omim/?term=611800	http://www.informatics.jax.org/searchtool/Search.do?query=THADA&submit=Quick%0D%4684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THADA	rs3752355	0.64357	0	0	1	0	0	intronic	intronic	intronic	THADA	THADA	ENSG00000115970	Na	Na	Na	Na	Na	Na	Het;C>T	289;7|13	Hom;C>T	729;0|23
N	N	-	2	43908318	43908318	A	G	snp	ncRNA_exonic	 	 	 	 	AC011242.1																		rs116468765	0.0253594	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PLEKHH2	PLEKHH2	ENSG00000229695	Na	Na	Na	Na	Na	Na	Het;A>G	333;8|12	Hom;A>G	683;1|23
N	N	-	2	45532011	45532011	T	C	snp	ncRNA_intronic	 	 	 	 	LINC01121																		rs10169967	0.227436	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01121(dist=49931),SRBD1(dist=83808)	UNQ6975(dist=49931),SRBD1(dist=83808)	ENSG00000205054	Na	Na	Na	Na	Na	Na	Het;T>C	117;6|6	Hom;T>C	534;0|18
N	N	-	2	4677905	4677905	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01249																		rs826027	0.847644	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01249	LOC727982	ENSG00000231532	Na	Na	Na	Na	Na	Na	Het;C>T	1570;138|82	Hom;C>T	5145;0|194
N	N	-	2	46986416	46986416	A	G	snp	synonymous SNV	A747G	T249T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SOCS5	Socs5	ENSG00000171150	suppressor of cytokine signaling 5	chr2:46926091-46990268	The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]	Pulmonary Disease, Chronic Obstructive; Neoplasms; diabetes, type 1	Homozygous null mutants are viable and fertile with normal immune system morphology and function.	Neddylation	GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;IDA|GO:0007259;JAK-STAT cascade;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0016049;cell growth;NAS|GO:0016567;protein ubiquitination;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0032715;negative regulation of interleukin-6 production;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0040008;regulation of growth;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045627;positive regulation of T-helper 1 cell differentiation;ISS|GO:0045629;negative regulation of T-helper 2 cell differentiation;ISS|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IEA|GO:0097699;vascular endothelial cell response to fluid shear stress;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SOCS5			https://www.ncbi.nlm.nih.gov/omim/?term=607094	http://www.informatics.jax.org/searchtool/Search.do?query=SOCS5&submit=Quick%0D%12862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOCS5	rs6738426	0.21845	0.3040	0.3257	1	0	0	exonic	exonic	exonic	SOCS5	SOCS5	ENSG00000171150	synonymous SNV	synonymous SNV	unknown	SOCS5:NM_144949:exon2:c.A747G:p.T249T,SOCS5:NM_014011:exon2:c.A747G:p.T249T,	SOCS5:uc021vgx.1:exon1:c.A747G:p.T249T,SOCS5:uc002rvf.3:exon2:c.A747G:p.T249T,SOCS5:uc002rvg.3:exon2:c.A747G:p.T249T,	UNKNOWN	Het;A>G	1991;126|98	Hom;A>G	4215;5|160
N	N	-	2	46987300	46987300	T	G	snp	UTR3	*20T>G	 	 	 	SOCS5	Socs5	ENSG00000171150	suppressor of cytokine signaling 5	chr2:46926091-46990268	The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]	Pulmonary Disease, Chronic Obstructive; Neoplasms; diabetes, type 1	Homozygous null mutants are viable and fertile with normal immune system morphology and function.	Neddylation	GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;IDA|GO:0007259;JAK-STAT cascade;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0016049;cell growth;NAS|GO:0016567;protein ubiquitination;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0032715;negative regulation of interleukin-6 production;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0040008;regulation of growth;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045627;positive regulation of T-helper 1 cell differentiation;ISS|GO:0045629;negative regulation of T-helper 2 cell differentiation;ISS|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IEA|GO:0097699;vascular endothelial cell response to fluid shear stress;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SOCS5			https://www.ncbi.nlm.nih.gov/omim/?term=607094	http://www.informatics.jax.org/searchtool/Search.do?query=SOCS5&submit=Quick%0D%12862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOCS5	rs3768720	0.714457	0.7153	0.6674	1	0	0	UTR3	UTR3	UTR3	SOCS5(NM_014011:c.*20T>G,NM_144949:c.*20T>G)	SOCS5(uc002rvf.3:c.*20T>G,uc002rvg.3:c.*20T>G)	ENSG00000171150(ENST00000306503:c.*20T>G,ENST00000394861:c.*20T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	817;67|46	Hom;T>G	2479;2|92
N	N	-	2	47014615	47014615	C	A	snp	intergenic	 	 	 	 	AC016722.3																		rs7606976	0.782748	0	0	1	0	0	intergenic	intergenic	intergenic	SOCS5(dist=24688),LINC01118(dist=29192)	SOCS5(dist=24688),LOC388948(dist=29192)	ENSG00000260977(dist=7231),ENSG00000222005(dist=29207)	Na	Na	Na	Na	Na	Na	Het;C>A	380;29|23	Hom;C>A	1361;0|51
N	N	-	2	47014686	47014686	T	G	snp	intergenic	 	 	 	 	AC016722.3																		rs7568137	0.634585	0	0	1	0	0	intergenic	intergenic	intergenic	SOCS5(dist=24759),LINC01118(dist=29121)	SOCS5(dist=24759),LOC388948(dist=29121)	ENSG00000260977(dist=7302),ENSG00000222005(dist=29136)	Na	Na	Na	Na	Na	Na	Het;T>G	114;19|7	Hom;T>G	755;0|27
N	N	-	2	47045309	47045309	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01118																		rs2289933	0.56889	0	0.5251	1	0	0	ncRNA_intronic	intronic	intronic	LINC01118	LOC388948	ENSG00000222005,ENSG00000239332	Na	Na	Na	Na	Na	Na	Het;C>T	149;7|8	Hom;C>T	120;0|4
N	N	-	2	47049409	47049409	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01118																		rs2278715	0.600639	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LINC01118	LOC388948(uc002rvh.3:c.*112C>T)	ENSG00000222005(ENST00000409912:c.*112C>T,ENST00000409518:c.*112C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1191;51|58	Hom;C>T	2180;0|74
N	N	-	2	47049453	47049453	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01118																		rs1053952	0.748003	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LINC01118	LOC388948(uc002rvh.3:c.*156A>G)	ENSG00000222005(ENST00000409912:c.*156A>G,ENST00000409518:c.*156A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1141;46|54	Hom;A>G	2699;1|98
N	N	-	2	47249239	47249239	A	G	snp	intronic	 	 	 	 	TTC7A	Ttc7	ENSG00000068724	tetratricopeptide repeat domain 7A	chr2:47143296-47303276	This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Erectile Dysfunction; Cholesterol; Body Mass Index; Arthritis, Rheumatoid|; Eosinophils	Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas.		GO:0006879;cellular iron ion homeostasis;IEA|GO:0030097;hemopoiesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TTC7A	https://www.uniprot.org/uniprot/Q9ULT0	https://hpo.jax.org/app/browse/search?q=TTC7A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609332	http://www.informatics.jax.org/searchtool/Search.do?query=TTC7A&submit=Quick%0D%1293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC7A	rs3814036	0.40595	0	0	1	0	0	intronic	intronic	intronic	TTC7A	TTC7A	ENSG00000068724	Na	Na	Na	Na	Na	Na	Het;A>G	725;26|35	Hom;A>G	1971;0|71
N	N	-	2	47251634	47251634	T	C	snp	intronic	 	 	 	 	TTC7A	Ttc7	ENSG00000068724	tetratricopeptide repeat domain 7A	chr2:47143296-47303276	This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Erectile Dysfunction; Cholesterol; Body Mass Index; Arthritis, Rheumatoid|; Eosinophils	Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas.		GO:0006879;cellular iron ion homeostasis;IEA|GO:0030097;hemopoiesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TTC7A	https://www.uniprot.org/uniprot/Q9ULT0	https://hpo.jax.org/app/browse/search?q=TTC7A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609332	http://www.informatics.jax.org/searchtool/Search.do?query=TTC7A&submit=Quick%0D%1293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC7A	rs6713052	0.720447	0	0	1	0	0	intronic	intronic	intronic	TTC7A	TTC7A	ENSG00000068724	Na	Na	Na	Na	Na	Na	Het;T>C	70;4|3	Hom;T>C	172;0|5
N	N	-	2	47277207	47277207	C	A	snp	intronic	 	 	 	 	TTC7A	Ttc7	ENSG00000068724	tetratricopeptide repeat domain 7A	chr2:47143296-47303276	This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Erectile Dysfunction; Cholesterol; Body Mass Index; Arthritis, Rheumatoid|; Eosinophils	Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas.		GO:0006879;cellular iron ion homeostasis;IEA|GO:0030097;hemopoiesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TTC7A	https://www.uniprot.org/uniprot/Q9ULT0	https://hpo.jax.org/app/browse/search?q=TTC7A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609332	http://www.informatics.jax.org/searchtool/Search.do?query=TTC7A&submit=Quick%0D%1293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC7A	rs3816066	0.611022	0.0810	0.4654	1	0	0	intronic	intronic	intronic	TTC7A	TTC7A	ENSG00000068724	Na	Na	Na	Na	Na	Na	Het;C>A	962;20|25	Hom;C>A	2181;0|50
N	N	-	2	47277208	47277208	A	G	snp	intronic	 	 	 	 	TTC7A	Ttc7	ENSG00000068724	tetratricopeptide repeat domain 7A	chr2:47143296-47303276	This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	Erectile Dysfunction; Cholesterol; Body Mass Index; Arthritis, Rheumatoid|; Eosinophils	Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas.		GO:0006879;cellular iron ion homeostasis;IEA|GO:0030097;hemopoiesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TTC7A	https://www.uniprot.org/uniprot/Q9ULT0	https://hpo.jax.org/app/browse/search?q=TTC7A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609332	http://www.informatics.jax.org/searchtool/Search.do?query=TTC7A&submit=Quick%0D%1293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC7A	rs3816065	0.613019	0.0878	0.4677	1	0	0	intronic	intronic	intronic	TTC7A	TTC7A	ENSG00000068724	Na	Na	Na	Na	Na	Na	Het;A>G	962;19|25	Hom;A>G	2181;0|48
N	N	-	2	4753961	4753961	G	A	snp	intergenic	 	 	 	 	LINC01249																		rs1374127	0.746206	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01249(dist=50149),LINC01248(dist=1020312)	LOC727982(dist=50149),SOX11(dist=1078838)	ENSG00000231532(dist=50156),ENSG00000252238(dist=120630)	Na	Na	Na	Na	Na	Na	Het;G>A	492;14|20	Hom;G>A	770;0|25
N	N	-	2	47646894	47646894	C	A	snp	intronic	 	 	 	 	MSH2	Msh2	ENSG00000095002	mutS homolog 2	chr2:47630108-47789450	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genital Neoplasms, Female|Neoplasms; prostate cancer; bladder cancer; Head and Neck Neoplasms; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Recurrence; Melanoma; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Microsatellite Instability; Colorectal Neoplasms, Hereditary Nonpolyposis|Pancreatic Neoplasms; chronic obstructive pulmonary disease; ovarian cancer; lymphoma, non-Hodgkin; non-Hodgkin lymphomas; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Neoplasms, Second Primary|Rectal Neoplasms; endometrial cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; Pancreatic Neoplasms; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Colorectal Neoplasms|Disease Susceptibility|Gastrointestinal Neoplasms|Stomach Neoplasms; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; colorectal cancer, hereditary nonpolyposis; null; Alcoholism; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Carcinoma, Renal Cell|Kidney Neoplasms|Microsatellite Instability; leukemia; Lynch syndrome; Anticipation, Genetic|Colorectal Neoplasms, Hereditary Nonpolyposis; lung cancer ; Adenocarcinoma|Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; stomach cancer; epithelial ovarian cancer ; gastric cancer; Stroke; Colorectal Neoplasms, Hereditary Nonpolyposis; colorectal adenomas; melanoma; colorectal cancer; Colorectal Neoplasms|Neoplasm Recurrence, Local; retinal function; breast cancer; leukemia; lymphoma; non-Hodgkin lymphoma; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer; endometrial cancer; Colorectal Neoplasms; Colonic Neoplasms; stomach cancer; pancreatic cancer; fallopian cancer; Adenocarcinoma|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; hereditary nonpolyposis colon cancer.; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|; breast cancer ; Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms; lung cancer	Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors.	TP53 Regulates Transcription of DNA Repair Genes	GO:0001701;in utero embryonic development;IEA|GO:0002204;somatic recombination of immunoglobulin genes involved in immune response;IEA|GO:0006119;oxidative phosphorylation;IEA|GO:0006281;DNA repair;IDA|GO:0006298;mismatch repair;TAS|GO:0006301;postreplication repair;IDA|GO:0006302;double-strand break repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007281;germ cell development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008584;male gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0010165;response to X-ray;IEA|GO:0010224;response to UV-B;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;IEA|GO:0016447;somatic recombination of immunoglobulin gene segments;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0030183;B cell differentiation;IEA|GO:0031573;intra-S DNA damage checkpoint;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0045190;isotype switching;IEA|GO:0045910;negative regulation of DNA recombination;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0051096;positive regulation of helicase activity;IDA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0032300;mismatch repair complex;IEA|GO:0032301;MutSalpha complex;IDA|GO:0032302;MutSbeta complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IEA|GO:0019237;centromeric DNA binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030983;mismatched DNA binding;IEA|GO:0032137;guanine/thymine mispair binding;IMP|GO:0032139;dinucleotide insertion or deletion binding;IDA|GO:0032142;single guanine insertion binding;IDA|GO:0032143;single thymine insertion binding;IDA|GO:0032181;dinucleotide repeat insertion binding;IDA|GO:0032357;oxidized purine DNA binding;IDA|GO:0032405;MutLalpha complex binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043531;ADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MSH2	https://www.uniprot.org/uniprot/P43246	https://hpo.jax.org/app/browse/search?q=MSH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609309	http://www.informatics.jax.org/searchtool/Search.do?query=MSH2&submit=Quick%0D%2231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH2	rs58011858	0.255791	0	0	1	0	0	intronic	intronic	intronic	MSH2	MSH2	ENSG00000095002	Na	Na	Na	Na	Na	Na	Het;C>A	220;8|11	Hom;C>A	509;0|20
N	N	-	2	47656154	47656154	T	G	snp	intronic	 	 	 	 	MSH2	Msh2	ENSG00000095002	mutS homolog 2	chr2:47630108-47789450	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genital Neoplasms, Female|Neoplasms; prostate cancer; bladder cancer; Head and Neck Neoplasms; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Recurrence; Melanoma; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Microsatellite Instability; Colorectal Neoplasms, Hereditary Nonpolyposis|Pancreatic Neoplasms; chronic obstructive pulmonary disease; ovarian cancer; lymphoma, non-Hodgkin; non-Hodgkin lymphomas; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Neoplasms, Second Primary|Rectal Neoplasms; endometrial cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; Pancreatic Neoplasms; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Colorectal Neoplasms|Disease Susceptibility|Gastrointestinal Neoplasms|Stomach Neoplasms; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; colorectal cancer, hereditary nonpolyposis; null; Alcoholism; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Carcinoma, Renal Cell|Kidney Neoplasms|Microsatellite Instability; leukemia; Lynch syndrome; Anticipation, Genetic|Colorectal Neoplasms, Hereditary Nonpolyposis; lung cancer ; Adenocarcinoma|Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; stomach cancer; epithelial ovarian cancer ; gastric cancer; Stroke; Colorectal Neoplasms, Hereditary Nonpolyposis; colorectal adenomas; melanoma; colorectal cancer; Colorectal Neoplasms|Neoplasm Recurrence, Local; retinal function; breast cancer; leukemia; lymphoma; non-Hodgkin lymphoma; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer; endometrial cancer; Colorectal Neoplasms; Colonic Neoplasms; stomach cancer; pancreatic cancer; fallopian cancer; Adenocarcinoma|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; hereditary nonpolyposis colon cancer.; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|; breast cancer ; Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms; lung cancer	Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors.	TP53 Regulates Transcription of DNA Repair Genes	GO:0001701;in utero embryonic development;IEA|GO:0002204;somatic recombination of immunoglobulin genes involved in immune response;IEA|GO:0006119;oxidative phosphorylation;IEA|GO:0006281;DNA repair;IDA|GO:0006298;mismatch repair;TAS|GO:0006301;postreplication repair;IDA|GO:0006302;double-strand break repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007281;germ cell development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008584;male gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0010165;response to X-ray;IEA|GO:0010224;response to UV-B;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;IEA|GO:0016447;somatic recombination of immunoglobulin gene segments;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0030183;B cell differentiation;IEA|GO:0031573;intra-S DNA damage checkpoint;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0045190;isotype switching;IEA|GO:0045910;negative regulation of DNA recombination;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0051096;positive regulation of helicase activity;IDA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0032300;mismatch repair complex;IEA|GO:0032301;MutSalpha complex;IDA|GO:0032302;MutSbeta complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IEA|GO:0019237;centromeric DNA binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030983;mismatched DNA binding;IEA|GO:0032137;guanine/thymine mispair binding;IMP|GO:0032139;dinucleotide insertion or deletion binding;IDA|GO:0032142;single guanine insertion binding;IDA|GO:0032143;single thymine insertion binding;IDA|GO:0032181;dinucleotide repeat insertion binding;IDA|GO:0032357;oxidized purine DNA binding;IDA|GO:0032405;MutLalpha complex binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043531;ADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MSH2	https://www.uniprot.org/uniprot/P43246	https://hpo.jax.org/app/browse/search?q=MSH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609309	http://www.informatics.jax.org/searchtool/Search.do?query=MSH2&submit=Quick%0D%2231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH2	rs17217940	0.0700879	0	0	1	0	0	intronic	intronic	intronic	MSH2	MSH2	ENSG00000095002	Na	Na	Na	Na	Na	Na	Het;T>G	710;39|34	Hom;T>G	1250;3|53
N	N	-	2	47666838	47666838	T	C	snp	intronic	 	 	 	 	MSH2	Msh2	ENSG00000095002	mutS homolog 2	chr2:47630108-47789450	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genital Neoplasms, Female|Neoplasms; prostate cancer; bladder cancer; Head and Neck Neoplasms; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Recurrence; Melanoma; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Microsatellite Instability; Colorectal Neoplasms, Hereditary Nonpolyposis|Pancreatic Neoplasms; chronic obstructive pulmonary disease; ovarian cancer; lymphoma, non-Hodgkin; non-Hodgkin lymphomas; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Neoplasms, Second Primary|Rectal Neoplasms; endometrial cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; Pancreatic Neoplasms; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Colorectal Neoplasms|Disease Susceptibility|Gastrointestinal Neoplasms|Stomach Neoplasms; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; colorectal cancer, hereditary nonpolyposis; null; Alcoholism; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Carcinoma, Renal Cell|Kidney Neoplasms|Microsatellite Instability; leukemia; Lynch syndrome; Anticipation, Genetic|Colorectal Neoplasms, Hereditary Nonpolyposis; lung cancer ; Adenocarcinoma|Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; stomach cancer; epithelial ovarian cancer ; gastric cancer; Stroke; Colorectal Neoplasms, Hereditary Nonpolyposis; colorectal adenomas; melanoma; colorectal cancer; Colorectal Neoplasms|Neoplasm Recurrence, Local; retinal function; breast cancer; leukemia; lymphoma; non-Hodgkin lymphoma; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer; endometrial cancer; Colorectal Neoplasms; Colonic Neoplasms; stomach cancer; pancreatic cancer; fallopian cancer; Adenocarcinoma|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; hereditary nonpolyposis colon cancer.; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|; breast cancer ; Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms; lung cancer	Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors.	TP53 Regulates Transcription of DNA Repair Genes	GO:0001701;in utero embryonic development;IEA|GO:0002204;somatic recombination of immunoglobulin genes involved in immune response;IEA|GO:0006119;oxidative phosphorylation;IEA|GO:0006281;DNA repair;IDA|GO:0006298;mismatch repair;TAS|GO:0006301;postreplication repair;IDA|GO:0006302;double-strand break repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007281;germ cell development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008584;male gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0010165;response to X-ray;IEA|GO:0010224;response to UV-B;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;IEA|GO:0016447;somatic recombination of immunoglobulin gene segments;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0030183;B cell differentiation;IEA|GO:0031573;intra-S DNA damage checkpoint;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0045190;isotype switching;IEA|GO:0045910;negative regulation of DNA recombination;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0051096;positive regulation of helicase activity;IDA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0032300;mismatch repair complex;IEA|GO:0032301;MutSalpha complex;IDA|GO:0032302;MutSbeta complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IEA|GO:0019237;centromeric DNA binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030983;mismatched DNA binding;IEA|GO:0032137;guanine/thymine mispair binding;IMP|GO:0032139;dinucleotide insertion or deletion binding;IDA|GO:0032142;single guanine insertion binding;IDA|GO:0032143;single thymine insertion binding;IDA|GO:0032181;dinucleotide repeat insertion binding;IDA|GO:0032357;oxidized purine DNA binding;IDA|GO:0032405;MutLalpha complex binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043531;ADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MSH2	https://www.uniprot.org/uniprot/P43246	https://hpo.jax.org/app/browse/search?q=MSH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609309	http://www.informatics.jax.org/searchtool/Search.do?query=MSH2&submit=Quick%0D%2231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH2	rs17036577	0.0824681	0	0	1	0	0	intronic	intronic	intronic	MSH2	MSH2	ENSG00000095002	Na	Na	Na	Na	Na	Na	Het;T>C	565;48|31	Hom;T>C	1818;0|71
N	N	-	2	47687990	47687990	T	A	snp	intronic	 	 	 	 	MSH2	Msh2	ENSG00000095002	mutS homolog 2	chr2:47630108-47789450	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genital Neoplasms, Female|Neoplasms; prostate cancer; bladder cancer; Head and Neck Neoplasms; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Recurrence; Melanoma; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Microsatellite Instability; Colorectal Neoplasms, Hereditary Nonpolyposis|Pancreatic Neoplasms; chronic obstructive pulmonary disease; ovarian cancer; lymphoma, non-Hodgkin; non-Hodgkin lymphomas; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Neoplasms, Second Primary|Rectal Neoplasms; endometrial cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; Pancreatic Neoplasms; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Colorectal Neoplasms|Disease Susceptibility|Gastrointestinal Neoplasms|Stomach Neoplasms; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; colorectal cancer, hereditary nonpolyposis; null; Alcoholism; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Carcinoma, Renal Cell|Kidney Neoplasms|Microsatellite Instability; leukemia; Lynch syndrome; Anticipation, Genetic|Colorectal Neoplasms, Hereditary Nonpolyposis; lung cancer ; Adenocarcinoma|Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; stomach cancer; epithelial ovarian cancer ; gastric cancer; Stroke; Colorectal Neoplasms, Hereditary Nonpolyposis; colorectal adenomas; melanoma; colorectal cancer; Colorectal Neoplasms|Neoplasm Recurrence, Local; retinal function; breast cancer; leukemia; lymphoma; non-Hodgkin lymphoma; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer; endometrial cancer; Colorectal Neoplasms; Colonic Neoplasms; stomach cancer; pancreatic cancer; fallopian cancer; Adenocarcinoma|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; hereditary nonpolyposis colon cancer.; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|; breast cancer ; Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms; lung cancer	Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors.	TP53 Regulates Transcription of DNA Repair Genes	GO:0001701;in utero embryonic development;IEA|GO:0002204;somatic recombination of immunoglobulin genes involved in immune response;IEA|GO:0006119;oxidative phosphorylation;IEA|GO:0006281;DNA repair;IDA|GO:0006298;mismatch repair;TAS|GO:0006301;postreplication repair;IDA|GO:0006302;double-strand break repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007281;germ cell development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008584;male gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0010165;response to X-ray;IEA|GO:0010224;response to UV-B;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;IEA|GO:0016447;somatic recombination of immunoglobulin gene segments;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0030183;B cell differentiation;IEA|GO:0031573;intra-S DNA damage checkpoint;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0045190;isotype switching;IEA|GO:0045910;negative regulation of DNA recombination;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0051096;positive regulation of helicase activity;IDA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0032300;mismatch repair complex;IEA|GO:0032301;MutSalpha complex;IDA|GO:0032302;MutSbeta complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IEA|GO:0019237;centromeric DNA binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030983;mismatched DNA binding;IEA|GO:0032137;guanine/thymine mispair binding;IMP|GO:0032139;dinucleotide insertion or deletion binding;IDA|GO:0032142;single guanine insertion binding;IDA|GO:0032143;single thymine insertion binding;IDA|GO:0032181;dinucleotide repeat insertion binding;IDA|GO:0032357;oxidized purine DNA binding;IDA|GO:0032405;MutLalpha complex binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043531;ADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MSH2	https://www.uniprot.org/uniprot/P43246	https://hpo.jax.org/app/browse/search?q=MSH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609309	http://www.informatics.jax.org/searchtool/Search.do?query=MSH2&submit=Quick%0D%2231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH2	rs7596938	0	0	0	1	0	0	intronic	intronic	intronic	MSH2	MSH2	ENSG00000095002	Na	Na	Na	Na	Na	Na	Het;T>A	480;9|21	Hom;T>A	907;4|37
N	N	-	2	48722755	48722755	T	C	snp	intronic	 	 	 	 	PPP1R21	Ppp1r21	ENSG00000162869	protein phosphatase 1 regulatory subunit 21	chr2:48667737-48742525			 			GO:0016020;membrane;IDA	GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R21				http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R21&submit=Quick%0D%10816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R21	rs4443044	0.526358	0	0	1	0	0	intronic	intronic	intronic	PPP1R21	PPP1R21	ENSG00000162869	Na	Na	Na	Na	Na	Na	Het;T>C	359;18|15	Hom;T>C	636;0|21
N	N	-	2	48725610	48725610	C	T	snp	intronic	 	 	 	 	PPP1R21	Ppp1r21	ENSG00000162869	protein phosphatase 1 regulatory subunit 21	chr2:48667737-48742525			 			GO:0016020;membrane;IDA	GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R21				http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R21&submit=Quick%0D%10816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R21	rs3811519	0.477436	0.5159	0.4889	1	0	0	intronic	intronic	intronic	PPP1R21	PPP1R21	ENSG00000162869	Na	Na	Na	Na	Na	Na	Het;C>T	427;13|16	Hom;C>T	923;0|33
N	N	-	2	48732944	48732944	A	G	snp	intronic	 	 	 	 	PPP1R21	Ppp1r21	ENSG00000162869	protein phosphatase 1 regulatory subunit 21	chr2:48667737-48742525			 			GO:0016020;membrane;IDA	GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R21				http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R21&submit=Quick%0D%10816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R21	rs4293602	0.699081	0	0	1	0	0	intronic	intronic	intronic	PPP1R21	PPP1R21	ENSG00000162869	Na	Na	Na	Na	Na	Na	Het;A>G	153;1|5	Hom;A>G	289;0|8
N	N	-	2	487982	487982	G	A	snp	intergenic	 	 	 	 	AC105393.1																		rs370809262	0	0	0	1	0	0	intergenic	intergenic	intergenic	FAM150B(dist=199674),TMEM18(dist=179991)	FAM150B(dist=199674),TMEM18(dist=179991)	ENSG00000226277(dist=65679),ENSG00000223985(dist=2962)	Na	Na	Na	Na	Na	Na	Het;G>A	254;15|8	Hom;G>A	524;0|15
N	N	-	2	48848295	48848295	C	T	snp	intronic	 	 	 	 	GTF2A1L	Gtf2a1l	ENSG00000242441	general transcription factor IIA subunit 1 like	chr2:48844937-48960287	The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;IEA|GO:0050890;cognition;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;IEA|GO:0050890;cognition;IMP	GO:0005634;nucleus;IEA|GO:0005672;transcription factor TFIIA complex;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GTF2A1L	https://www.uniprot.org/uniprot/Q9UNN4		https://www.ncbi.nlm.nih.gov/omim/?term=605358	http://www.informatics.jax.org/searchtool/Search.do?query=GTF2A1L&submit=Quick%0D%265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2A1L	rs13035544	0.15595	0.1070	0.1860	1	0	0	intronic	intronic	intronic	GTF2A1L,STON1-GTF2A1L	GTF2A1L,STON1-GTF2A1L	ENSG00000068781,ENSG00000242441	Na	Na	Na	Na	Na	Na	Het;C>T	414;56|28	Hom;C>T	1380;1|55
N	N	-	2	48914615	48914615	C	G	snp	UTR3	*221G>C	 	 	 	LHCGR	Lhcgr	ENSG00000138039	luteinizing hormone/choriogonadotropin receptor	chr2:48859428-48982880	This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]	Stroke; Abortion, Habitual|Infertility, Female; Body Weight; familial male-limited precocious puberty.; Hyperandrogenism|Polycystic Ovary Syndrome; Hyperparathyroidism, Secondary; Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Bone Mineral Density; Body Weights and Measures; Response to radiation; Cryptorchidism|Infertility, Male; Alzheimer's disease ; breast cancer; aging; breast cancer|prostate cancer; Polycystic Ovary Syndrome; epithelial ovarian cancer ; several psychiatric disorders; ovarian hyperstimulation syndrome; prostate cancer; Autism; Erythrocyte Count; Ovarian Failure, Premature	Homozygous null mutants are infertile and have abnormal hormone levels. Males have undescended testes, immature external and accessory sex organs and blocked spermatogenesis. Females have small ovaries and uteri, immature follicles and do not cycle.	G alpha (s) signalling events	GO:0001545;primary ovarian follicle growth;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IBA|GO:0007190;activation of adenylate cyclase activity;IBA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;ISS|GO:0008584;male gonad development;TAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0030539;male genitalia development;TAS|GO:0032962;positive regulation of inositol trisphosphate biosynthetic process;ISS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0042700;luteinizing hormone signaling pathway;IMP|GO:0043950;positive regulation of cAMP-mediated signaling;ISS|GO:0045670;regulation of osteoclast differentiation;IBA|GO:0045762;positive regulation of adenylate cyclase activity;IMP|GO:0050890;cognition;IMP|GO:0071371;cellular response to gonadotropin stimulus;ISS|GO:0071373;cellular response to luteinizing hormone stimulus;IMP|GO:0001545;primary ovarian follicle growth;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IBA|GO:0007190;activation of adenylate cyclase activity;IBA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;ISS|GO:0008584;male gonad development;TAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0030539;male genitalia development;TAS|GO:0032962;positive regulation of inositol trisphosphate biosynthetic process;ISS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0042700;luteinizing hormone signaling pathway;IMP|GO:0043950;positive regulation of cAMP-mediated signaling;ISS|GO:0045670;regulation of osteoclast differentiation;IBA|GO:0045762;positive regulation of adenylate cyclase activity;IMP|GO:0050890;cognition;IMP|GO:0071371;cellular response to gonadotropin stimulus;ISS|GO:0071373;cellular response to luteinizing hormone stimulus;IMP	GO:0005768;endosome;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004963;follicle-stimulating hormone receptor activity;IBA|GO:0004964;luteinizing hormone receptor activity;IMP|GO:0008528;G-protein coupled peptide receptor activity;IBA|GO:0016500;protein-hormone receptor activity;IEA|GO:0035472;choriogonadotropin hormone receptor activity;ISS|GO:0038106;choriogonadotropin hormone binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/LHCGR	https://www.uniprot.org/uniprot/P22888	https://hpo.jax.org/app/browse/search?q=LHCGR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=152790	http://www.informatics.jax.org/searchtool/Search.do?query=LHCGR&submit=Quick%0D%161ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHCGR	rs62137532	0.16274	0	0	1	0	0	UTR3	UTR3	UTR3	LHCGR(NM_000233:c.*221G>C)	LHCGR(uc002rwu.4:c.*221G>C)	ENSG00000138039(ENST00000294954:c.*221G>C,ENST00000344775:c.*221G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	510;15|23	Hom;C>G	909;0|31
N	N	-	2	48925986	48925987	AT	A	indel	intronic	 	 	 	 	LHCGR	Lhcgr	ENSG00000138039	luteinizing hormone/choriogonadotropin receptor	chr2:48859428-48982880	This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]	Stroke; Abortion, Habitual|Infertility, Female; Body Weight; familial male-limited precocious puberty.; Hyperandrogenism|Polycystic Ovary Syndrome; Hyperparathyroidism, Secondary; Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Bone Mineral Density; Body Weights and Measures; Response to radiation; Cryptorchidism|Infertility, Male; Alzheimer's disease ; breast cancer; aging; breast cancer|prostate cancer; Polycystic Ovary Syndrome; epithelial ovarian cancer ; several psychiatric disorders; ovarian hyperstimulation syndrome; prostate cancer; Autism; Erythrocyte Count; Ovarian Failure, Premature	Homozygous null mutants are infertile and have abnormal hormone levels. Males have undescended testes, immature external and accessory sex organs and blocked spermatogenesis. Females have small ovaries and uteri, immature follicles and do not cycle.	G alpha (s) signalling events	GO:0001545;primary ovarian follicle growth;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IBA|GO:0007190;activation of adenylate cyclase activity;IBA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;ISS|GO:0008584;male gonad development;TAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0030539;male genitalia development;TAS|GO:0032962;positive regulation of inositol trisphosphate biosynthetic process;ISS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0042700;luteinizing hormone signaling pathway;IMP|GO:0043950;positive regulation of cAMP-mediated signaling;ISS|GO:0045670;regulation of osteoclast differentiation;IBA|GO:0045762;positive regulation of adenylate cyclase activity;IMP|GO:0050890;cognition;IMP|GO:0071371;cellular response to gonadotropin stimulus;ISS|GO:0071373;cellular response to luteinizing hormone stimulus;IMP|GO:0001545;primary ovarian follicle growth;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IBA|GO:0007190;activation of adenylate cyclase activity;IBA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;ISS|GO:0008584;male gonad development;TAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0030539;male genitalia development;TAS|GO:0032962;positive regulation of inositol trisphosphate biosynthetic process;ISS|GO:0042699;follicle-stimulating hormone signaling pathway;IBA|GO:0042700;luteinizing hormone signaling pathway;IMP|GO:0043950;positive regulation of cAMP-mediated signaling;ISS|GO:0045670;regulation of osteoclast differentiation;IBA|GO:0045762;positive regulation of adenylate cyclase activity;IMP|GO:0050890;cognition;IMP|GO:0071371;cellular response to gonadotropin stimulus;ISS|GO:0071373;cellular response to luteinizing hormone stimulus;IMP	GO:0005768;endosome;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004963;follicle-stimulating hormone receptor activity;IBA|GO:0004964;luteinizing hormone receptor activity;IMP|GO:0008528;G-protein coupled peptide receptor activity;IBA|GO:0016500;protein-hormone receptor activity;IEA|GO:0035472;choriogonadotropin hormone receptor activity;ISS|GO:0038106;choriogonadotropin hormone binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/LHCGR	https://www.uniprot.org/uniprot/P22888	https://hpo.jax.org/app/browse/search?q=LHCGR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=152790	http://www.informatics.jax.org/searchtool/Search.do?query=LHCGR&submit=Quick%0D%161ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHCGR	rs70946824	0.938099	0	0.8217	1	0	0	intronic	intronic	intronic	LHCGR,STON1-GTF2A1L	LHCGR,STON1-GTF2A1L	ENSG00000068781,ENSG00000138039,ENSG00000242441	Na	Na	Na	Na	Na	Na	Het;-T	539;4|28	Hom;-T	471;1|24
N	N	-	2	49053318	49053318	C	T	snp	intergenic	 	 	 	 	ELOBP3																		rs13016625	0.508786	0	0	1	0	0	intergenic	intergenic	intergenic	STON1-GTF2A1L(dist=49662),FSHR(dist=135978)	STON1-GTF2A1L(dist=49662),FSHR(dist=135978)	ENSG00000232285(dist=45284),ENSG00000214602(dist=89088)	Na	Na	Na	Na	Na	Na	Het;C>T	167;3|6	Hom;C>T	192;0|6
N	N	-	2	49244559	49244559	A	G	snp	intronic	 	 	 	 	FSHR	Fshr	ENSG00000170820	follicle stimulating hormone receptor	chr2:49189296-49381676	The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]	Ovarian Failure, Premature; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; Infertility, Male; Erythrocyte Count; polycystic ovarian syndrome; premature ovarian failure; Ovarian Failure, Premature|POF - Premature ovarian failure; polycystic ovarian syndrome; infertility, male; testosterone; FSH, basal; inhibin B levels; semen parameters; Alzheimer's disease ; efficacy of follicle-stimulating hormone; Bone Density; Asthenozoospermia|Oligospermia; Erectile Dysfunction; ovarian response to FSH stimulation; ovarian hyperstimulation syndrome; hypertension; Abortion, Habitual|Infertility, Female; Polycystic Ovary Syndrome; normogonadotropic anovulatory infertility; Endometriosis; Azoospermia; prostate cancer; Lupus Erythematosus, Systemic; age at natural menopause; Cholesterol; Bone Mineral Density; azoospermia; premature ovarian failure; breast cancer|prostate cancer; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Infertility|Ovarian Hyperstimulation Syndrome; infertility, female; Pre-Eclampsia; Hyperandrogenism|Polycystic Ovary Syndrome; Migraine Disorders; Amenorrhea; POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency; menstrual cycle; invitro fertilization; Neoplasms, Germ Cell and Embryonal|Seminoma|Testicular Neoplasms; polycystic ovary syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Infertility, Female; Ovarian Hyperstimulation Syndrome; ovarian cancer 	Homozygous null mutant females are sterile with small ovaries, blocked follicular development, atrophic uterus and imperforate vagina. Mutant males are fertile despite reduction in testis weight, oligozoospermia and reduced testosterone levels.	G alpha (s) signalling events	GO:0001541;ovarian follicle development;IEA|GO:0001545;primary ovarian follicle growth;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IEA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0007292;female gamete generation;TAS|GO:0007626;locomotory behavior;IEA|GO:0008406;gonad development;TAS|GO:0008584;male gonad development;IEP|GO:0008585;female gonad development;TAS|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0009992;cellular water homeostasis;IEA|GO:0010640;regulation of platelet-derived growth factor receptor signaling pathway;IEA|GO:0010738;regulation of protein kinase A signaling;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0022602;ovulation cycle process;IEA|GO:0031175;neuron projection development;IEA|GO:0032350;regulation of hormone metabolic process;IEA|GO:0033044;regulation of chromosome organization;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0033148;positive regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0035092;sperm chromatin condensation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;IEA|GO:0042699;follicle-stimulating hormone signaling pathway;IEA|GO:0043408;regulation of MAPK cascade;IEA|GO:0045056;transcytosis;IEA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IMP|GO:0045779;negative regulation of bone resorption;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060011;Sertoli cell proliferation;IEA|GO:0060065;uterus development;IEA|GO:0060408;regulation of acetylcholine metabolic process;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IMP|GO:0071711;basement membrane organization;IEA	GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004963;follicle-stimulating hormone receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;IBA|GO:0016500;protein-hormone receptor activity;IEA|GO:0017046;peptide hormone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FSHR		https://hpo.jax.org/app/browse/search?q=FSHR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136435	http://www.informatics.jax.org/searchtool/Search.do?query=FSHR&submit=Quick%0D%12782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSHR	rs2091787	0.608027	0	0	1	0	0	intronic	intronic	intronic	FSHR	FSHR	ENSG00000170820	Na	Na	Na	Na	Na	Na	Het;A>G	279;8|13	Hom;A>G	399;0|13
N	N	-	2	50031656	50031656	C	CA	indel	intergenic	 	 	 	 	RNU6-439P																		rs11371146	0.129593	0	0	1	0	0	intergenic	intergenic	intergenic	FSHR(dist=649990),NRXN1(dist=113987)	FSHR(dist=649990),NRXN1(dist=113987)	ENSG00000206915(dist=570618),ENSG00000234253(dist=74105)	Na	Na	Na	Na	Na	Na	Het;+A	170;7|10	Hom;+A	283;3|13
N	N	-	2	50148111	50148111	A	AAAGT	indel	UTR3	*971T>ACTTT	 	 	 	NRXN1	Nrxn1	ENSG00000179915	neurexin 1	chr2:50145643-51259674	This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Exploratory Behavior; Platelet Aggregation; Alanine Transaminase; Triglycerides; Erythrocyte Indices; cognitive ability; Longevity; Cholesterol, LDL; Cognitive performance; Alcoholism; Lipids; Schizophrenia; nicotine dependence; Mental Competency; schizophrenia | autism; Lipoproteins; Arthritis, Rheumatoid; smoking; several psychiatric disorders; Diabetic Nephropathies; Breath Tests; Cholesterol, HDL; Autism; Language Development Disorders|Mental Retardation; Blood Pressure; schizophrenia; Cholesterol	Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin -triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+).	Neurexins and neuroligins	GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007165;signal transduction;ISS|GO:0007268;chemical synaptic transmission;ISS|GO:0007269;neurotransmitter secretion;ISS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;ISS|GO:0007612;learning;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0021707;cerebellar granule cell differentiation;ISS|GO:0023041;neuronal signal transduction;TAS|GO:0030534;adult behavior;IMP|GO:0035176;social behavior;IMP|GO:0035418;protein localization to synapse;ISS|GO:0042297;vocal learning;IMP|GO:0045184;establishment of protein localization;ISS|GO:0050885;neuromuscular process controlling balance;ISS|GO:0051490;negative regulation of filopodium assembly;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060134;prepulse inhibition;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0065009;regulation of molecular function;IEA|GO:0071625;vocalization behavior;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS|GO:0090126;protein complex assembly involved in synapse maturation;ISS|GO:0090129;positive regulation of synapse maturation;ISS|GO:0097091;synaptic vesicle clustering;ISS|GO:0097104;postsynaptic membrane assembly;ISS|GO:0097105;presynaptic membrane assembly;ISS|GO:0097112;gamma-aminobutyric acid receptor clustering;ISS|GO:0097114;NMDA glutamate receptor clustering;ISS|GO:0097116;gephyrin clustering involved in postsynaptic density assembly;ISS|GO:0097117;guanylate kinase-associated protein clustering;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;ISS|GO:0097119;postsynaptic density protein 95 clustering;ISS|GO:0097120;receptor localization to synapse;ISS|GO:1905520;positive regulation of presynaptic active zone assembly;TAS|GO:2000310;regulation of NMDA receptor activity;ISS|GO:2000311;regulation of AMPA receptor activity;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000821;regulation of grooming behavior;IEA	GO:0005783;endoplasmic reticulum;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;ISS|GO:0031965;nuclear membrane;ISS|GO:0031982;vesicle;ISS|GO:0042734;presynaptic membrane;ISS|GO:0043025;neuronal cell body;ISS|GO:0043234;protein complex;IEA|GO:0044295;axonal growth cone;ISS|GO:0045202;synapse;IEA|GO:0099056;integral component of presynaptic membrane;TAS	GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005102;receptor binding;ISS|GO:0005246;calcium channel regulator activity;ISS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0033130;acetylcholine receptor binding;ISS|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;ISS|GO:0050839;cell adhesion molecule binding;ISS|GO:0097109;neuroligin family protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRXN1		https://hpo.jax.org/app/browse/search?q=NRXN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600565	http://www.informatics.jax.org/searchtool/Search.do?query=NRXN1&submit=Quick%0D%14403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRXN1	rs3839058	0.490615	0	0	1	0	0	UTR3	UTR3	UTR3	NRXN1(NM_004801:c.*971T>ACTTT,NM_138735:c.*971T>ACTTT,NM_001135659:c.*971T>ACTTT)	NRXN1(uc002rxa.4:c.*971T>ACTTT,uc010yon.2:c.*971T>ACTTT,uc010fbp.3:c.*971T>ACTTT,uc002rxb.4:c.*971T>ACTTT,uc021vhg.1:c.*971T>ACTTT,uc021vhh.1:c.*971T>ACTTT,uc021vhi.1:c.*971T>ACTTT,uc021vhj.1:c.*971T>ACTTT)	ENSG00000179915(ENST00000342183:c.*971T>ACTTT,ENST00000378262:c.*971T>ACTTT,ENST00000412315:c.*971T>ACTTT,ENST00000406316:c.*971T>ACTTT,ENST00000404971:c.*971T>ACTTT,ENST00000401710:c.*971T>ACTTT)	Na	Na	Na	Na	Na	Na	Het;+AAGT	757;9|22	Hom;+AAGT	1619;0|37
N	N	-	2	50503807	50503807	A	T	snp	intronic	 	 	 	 	NRXN1	Nrxn1	ENSG00000179915	neurexin 1	chr2:50145643-51259674	This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]	Tobacco Use Disorder; Exploratory Behavior; Platelet Aggregation; Alanine Transaminase; Triglycerides; Erythrocyte Indices; cognitive ability; Longevity; Cholesterol, LDL; Cognitive performance; Alcoholism; Lipids; Schizophrenia; nicotine dependence; Mental Competency; schizophrenia | autism; Lipoproteins; Arthritis, Rheumatoid; smoking; several psychiatric disorders; Diabetic Nephropathies; Breath Tests; Cholesterol, HDL; Autism; Language Development Disorders|Mental Retardation; Blood Pressure; schizophrenia; Cholesterol	Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin -triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+).	Neurexins and neuroligins	GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007165;signal transduction;ISS|GO:0007268;chemical synaptic transmission;ISS|GO:0007269;neurotransmitter secretion;ISS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;ISS|GO:0007612;learning;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0021707;cerebellar granule cell differentiation;ISS|GO:0023041;neuronal signal transduction;TAS|GO:0030534;adult behavior;IMP|GO:0035176;social behavior;IMP|GO:0035418;protein localization to synapse;ISS|GO:0042297;vocal learning;IMP|GO:0045184;establishment of protein localization;ISS|GO:0050885;neuromuscular process controlling balance;ISS|GO:0051490;negative regulation of filopodium assembly;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060134;prepulse inhibition;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0065009;regulation of molecular function;IEA|GO:0071625;vocalization behavior;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS|GO:0090126;protein complex assembly involved in synapse maturation;ISS|GO:0090129;positive regulation of synapse maturation;ISS|GO:0097091;synaptic vesicle clustering;ISS|GO:0097104;postsynaptic membrane assembly;ISS|GO:0097105;presynaptic membrane assembly;ISS|GO:0097112;gamma-aminobutyric acid receptor clustering;ISS|GO:0097114;NMDA glutamate receptor clustering;ISS|GO:0097116;gephyrin clustering involved in postsynaptic density assembly;ISS|GO:0097117;guanylate kinase-associated protein clustering;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;ISS|GO:0097119;postsynaptic density protein 95 clustering;ISS|GO:0097120;receptor localization to synapse;ISS|GO:1905520;positive regulation of presynaptic active zone assembly;TAS|GO:2000310;regulation of NMDA receptor activity;ISS|GO:2000311;regulation of AMPA receptor activity;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000821;regulation of grooming behavior;IEA	GO:0005783;endoplasmic reticulum;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;ISS|GO:0031965;nuclear membrane;ISS|GO:0031982;vesicle;ISS|GO:0042734;presynaptic membrane;ISS|GO:0043025;neuronal cell body;ISS|GO:0043234;protein complex;IEA|GO:0044295;axonal growth cone;ISS|GO:0045202;synapse;IEA|GO:0099056;integral component of presynaptic membrane;TAS	GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005102;receptor binding;ISS|GO:0005246;calcium channel regulator activity;ISS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0033130;acetylcholine receptor binding;ISS|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;ISS|GO:0050839;cell adhesion molecule binding;ISS|GO:0097109;neuroligin family protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRXN1		https://hpo.jax.org/app/browse/search?q=NRXN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600565	http://www.informatics.jax.org/searchtool/Search.do?query=NRXN1&submit=Quick%0D%14403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRXN1	rs13421566	0.124002	0	0	1	0	0	intronic	intronic	intronic	NRXN1	NRXN1	ENSG00000179915	Na	Na	Na	Na	Na	Na	Het;A>T	362;21|19	Hom;A>T	1098;1|39
N	N	-	2	50923313	50923315	CGT	C	indel	ncRNA_exonic	 	 	 	 	MIR8485																		rs201534178	0	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	MIR8485	NRXN1	ENSG00000216191	Na	Na	Na	Na	Na	Na	Het;-GT	131;5|8	Hom;-GT	111;0|5
N	N	-	2	52634220	52634220	A	G	snp	ncRNA_exonic	 	 	 	 	AC007402.1																		rs2727867	0.54972	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NRXN1(dist=1374546),MIR4431(dist=295440)	NRXN1(dist=1374546),ASB3(dist=1262897)	ENSG00000231918	Na	Na	Na	Na	Na	Na	Het;A>G	983;53|46	Hom;A>G	2695;0|100
N	N	-	2	52634553	52634553	A	G	snp	ncRNA_exonic	 	 	 	 	AC007402.1																		rs6545273	0.465855	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NRXN1(dist=1374879),MIR4431(dist=295107)	NRXN1(dist=1374879),ASB3(dist=1262564)	ENSG00000231918	Na	Na	Na	Na	Na	Na	Het;A>G	1260;80|54	Hom;A>G	4765;0|164
N	N	-	2	52635129	52635129	G	A	snp	downstream	 	 	 	 	AC007402.1																		rs2694135	0.430911	0	0	1	0	0	intergenic	intergenic	downstream	NRXN1(dist=1375455),MIR4431(dist=294531)	NRXN1(dist=1375455),ASB3(dist=1261988)	ENSG00000231918	Na	Na	Na	Na	Na	Na	Het;G>A	163;5|7	Hom;G>A	502;0|17
N	N	-	2	52701415	52701415	C	G	snp	ncRNA_exonic	 	 	 	 	AC139712.2																		rs74855503	0.0273562	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NRXN1(dist=1441741),MIR4431(dist=228245)	NRXN1(dist=1441741),ASB3(dist=1195702)	ENSG00000225842	Na	Na	Na	Na	Na	Na	Het;C>G	32;9|4	Hom;C>G	120;0|6
N	N	-	2	53179680	53179680	C	A	snp	intergenic	 	 	 	 	AC010967.1																		rs7595603	0.503594	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4431(dist=249927),ASB3(dist=717437)	NRXN1(dist=1920006),ASB3(dist=717437)	ENSG00000228033(dist=42522),ENSG00000251942(dist=517905)	Na	Na	Na	Na	Na	Na	Het;C>A	625;43|33	Hom;C>A	2296;0|85
N	N	-	2	53279890	53279890	A	G	snp	intergenic	 	 	 	 	AC010967.1																		rs72795397	0.266573	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4431(dist=350137),ASB3(dist=617227)	NONE(dist=NONE),ASB3(dist=617227)	ENSG00000228033(dist=142732),ENSG00000251942(dist=417695)	Na	Na	Na	Na	Na	Na	Het;A>G	205;1|7	Hom;A>G	142;0|5
N	N	-	2	54711907	54711907	T	TGTG	indel	intronic	 	 	 	 	SPTBN1	Sptbn1	ENSG00000115306	spectrin beta, non-erythrocytic 1	chr2:54683422-54896812	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder	Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1	https://www.uniprot.org/uniprot/Q01082		https://www.ncbi.nlm.nih.gov/omim/?term=182790	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1	rs35400643	0.767572	0	0	1	0	0	intronic	intronic	intronic	SPTBN1	SPTBN1	ENSG00000115306	Na	Na	Na	Na	Na	Na	Het;+GTG	80;3|3	Hom;+GTG	143;0|4
N	N	-	2	54756740	54756740	C	T	snp	synonymous SNV	C258T	A86A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RPL23AP32																		rs1802889	0.739217	0	0.7053	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	RPL23AP32	RPL23AP32	ENSG00000237887	Na	synonymous SNV	Na	Na	RPL23AP32:uc010yot.1:exon1:c.C258T:p.A86A,	Na	Het;C>T	172;8|9	Hom;C>T	1007;0|38
N	N	-	2	54839276	54839276	A	G	snp	intronic	 	 	 	 	SPTBN1	Sptbn1	ENSG00000115306	spectrin beta, non-erythrocytic 1	chr2:54683422-54896812	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder	Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1	https://www.uniprot.org/uniprot/Q01082		https://www.ncbi.nlm.nih.gov/omim/?term=182790	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1	rs3796014	0.7502	0.8007	0.7465	1	0	0	intronic	intronic	intronic	SPTBN1	SPTBN1	ENSG00000115306	Na	Na	Na	Na	Na	Na	Het;A>G	335;11|12	Hom;A>G	960;0|27
N	N	-	2	54855137	54855137	T	C	snp	intronic	 	 	 	 	SPTBN1	Sptbn1	ENSG00000115306	spectrin beta, non-erythrocytic 1	chr2:54683422-54896812	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder	Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1	https://www.uniprot.org/uniprot/Q01082		https://www.ncbi.nlm.nih.gov/omim/?term=182790	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1	rs2971887	0.756589	0	0	1	0	0	intronic	intronic	intronic	SPTBN1	SPTBN1	ENSG00000115306	Na	Na	Na	Na	Na	Na	Het;T>C	92;8|4	Hom;T>C	376;0|10
N	N	-	2	54922942	54922942	C	T	snp	intergenic	 	 	 	 	SPTBN1	Sptbn1	ENSG00000115306	spectrin beta, non-erythrocytic 1	chr2:54683422-54896812	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder	Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1	https://www.uniprot.org/uniprot/Q01082		https://www.ncbi.nlm.nih.gov/omim/?term=182790	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1	rs354226	0.709465	0	0	1	0	0	intergenic	intergenic	intergenic	SPTBN1(dist=24359),EML6(dist=29207)	SPTBN1(dist=24359),EML6(dist=29207)	ENSG00000115306(dist=26130),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	1042;62|54	Hom;C>T	2335;2|91
N	N	-	2	56108882	56108882	T	C	snp	intronic	 	 	 	 	EFEMP1	Efemp1	ENSG00000115380	EGF containing fibulin like extracellular matrix protein 1	chr2:56093102-56151274	This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]	early onset drusen; Crohn Disease|Crohn's disease|Growth Disorders; HIV-1; Heart Failure; Height; Tobacco Use Disorder; Retinal Diseases; Heart Rate; atherosclerosis; Body Height; familial age-related macular degeneration; height; Choroidal Neovascularization|Macular Degeneration; macular degeneration; Amyotrophic lateral sclerosis	Mice homozygous for disruptions in this gene display a normal phenotype.  Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium.	Molecules associated with elastic fibres	GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007601;visual perception;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0043010;camera-type eye development;IEP|GO:0048048;embryonic eye morphogenesis;IEP|GO:0048050;post-embryonic eye morphogenesis;IEP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005006;epidermal growth factor-activated receptor activity;IDA|GO:0005154;epidermal growth factor receptor binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFEMP1	https://www.uniprot.org/uniprot/Q12805	https://hpo.jax.org/app/browse/search?q=EFEMP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601548	http://www.informatics.jax.org/searchtool/Search.do?query=EFEMP1&submit=Quick%0D%4596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFEMP1	rs3748959	0.229433	0.1826	0.1658	1	0	0	intronic	intronic	intronic	EFEMP1	EFEMP1	ENSG00000115380	Na	Na	Na	Na	Na	Na	Het;T>C	637;47|34	Hom;T>C	2103;0|77
N	N	-	2	56402848	56402848	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100129434																		rs1861773	0.756989	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100129434	AK295617,AK311113	ENSG00000233251	Na	Na	Na	Na	Na	Na	Het;C>T	1748;75|80	Hom;C>T	3807;0|136
N	N	-	2	57411317	57411317	C	T	snp	intergenic	 	 	 	 	AC010738.1																		rs1593233	0.813498	0	0	1	0	0	intergenic	intergenic	intergenic	CCDC85A(dist=798008),VRK2(dist=723469)	CCDC85A(dist=798008),SNORD78(dist=360353)	ENSG00000271115(dist=134846),ENSG00000270569(dist=245366)	Na	Na	Na	Na	Na	Na	Het;C>T	130;15|10	Hom;C>T	290;0|13
N	N	-	2	59153017	59153017	C	G	snp	ncRNA_exonic	 	 	 	 	LINC01122																		rs3732140	0.602636	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC01122	FLJ30838(uc021vhz.2:c.-78101C>G)	ENSG00000233723	Na	Na	Na	Na	Na	Na	Het;C>G	434;36|21	Hom;C>G	1515;0|52
N	N	-	2	59260307	59260307	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01122																		rs9309307	0.617013	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LINC01122	FLJ30838	ENSG00000233723	Na	Na	Na	Na	Na	Na	Het;G>A	1113;112|59	Hom;G>A	3981;0|152
N	N	-	2	59482217	59482217	T	TGACTC	indel	ncRNA_intronic	 	 	 	 	LOC101927285																		rs10683410	0.580871	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927285	FLJ30838(dist=191316),Mir_548(dist=277908)	ENSG00000222030,ENSG00000233891,ENSG00000271955	Na	Na	Na	Na	Na	Na	Het;+GACTC	350;9|6	Hom;+GACTC	413;0|7
N	N	-	2	59856601	59856601	G	C	snp	ncRNA_intronic	 	 	 	 	AC007179.2																		rs2539680	0.513778	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101927285(dist=350066),MIR4432(dist=757896)	Mir_548(dist=96393),5S_rRNA(dist=65296)	ENSG00000233891,ENSG00000271955	Na	Na	Na	Na	Na	Na	Het;G>C	135;10|8	Hom;G>C	565;0|21
N	N	-	2	60206554	60206554	C	T	snp	ncRNA_intronic	 	 	 	 	AC007100.1																		rs1863159	0.230032	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101927285(dist=700019),MIR4432(dist=407943)	JB153659(dist=65793),MIR4432(dist=407943)	ENSG00000271955	Na	Na	Na	Na	Na	Na	Het;C>T	83;25|7	Hom;C>T	470;0|17
N	N	-	2	60687959	60687959	A	G	snp	synonymous SNV	T2088C	S696S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	BCL11A	Bcl11a	ENSG00000119866	B-cell CLL/lymphoma 11A	chr2:60678302-60780702	This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Beta thalassemia/hemoglobin E disease; diabetes, type 2; Anemia, Sickle Cell|Sickle cell anemia|Thalassemia; Nonalcoholic Fatty Liver Disease; fetal hemoglobin levels; F-cell distribution; Type 2 diabetes; Tobacco Use Disorder; Anemia, Sickle Cell|Sickle cell anemia; mean corpuscular volume; Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity; Anemia, Sickle Cell|Pain; beta(0)-thalassemia; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; alpha-Thalassemia|beta-Thalassemia; beta Thalassemia|beta-Thalassemia; null; Bipolar Disorder; Fetal Hemoglobin	Homozygous mutation of this gene results in B cell deficiency, alteration of T cell types, and neonatal lethality.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IBA|GO:0010628;positive regulation of gene expression;IEA|GO:0016925;protein sumoylation;ISS|GO:0022008;neurogenesis;IBA|GO:1903860;negative regulation of dendrite extension;IEA|GO:1904800;negative regulation of neuron remodeling;IEA|GO:1905232;cellular response to L-glutamate;IEA|GO:2000171;negative regulation of dendrite development;IEA|GO:2000173;negative regulation of branching morphogenesis of a nerve;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0014069;postsynaptic density;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL11A	https://www.uniprot.org/uniprot/Q9H165	https://hpo.jax.org/app/browse/search?q=BCL11A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606557	http://www.informatics.jax.org/searchtool/Search.do?query=BCL11A&submit=Quick%0D%5127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL11A	rs7569946	0.830072	0.7125	0.6977	1	0	0	exonic	exonic	exonic	BCL11A	BCL11A	ENSG00000119866	synonymous SNV	synonymous SNV	unknown	BCL11A:NM_018014:exon4:c.T2088C:p.S696S,BCL11A:NM_022893:exon4:c.T2088C:p.S696S,	BCL11A:uc002sae.1:exon4:c.T2088C:p.S696S,BCL11A:uc002saf.1:exon3:c.T1986C:p.S662S,BCL11A:uc002sab.3:exon4:c.T2088C:p.S696S,BCL11A:uc002sad.1:exon3:c.T1632C:p.S544S,BCL11A:uc010ypj.2:exon3:c.T1986C:p.S662S,BCL11A:uc010ypi.2:exon6:c.T1095C:p.S365S,	UNKNOWN	Het;A>G	1933;75|82	Hom;A>G	5214;0|172
N	N	-	2	63345507	63345507	C	A	snp	ncRNA_exonic	 	 	 	 	DBIL5P2																		rs2162014	0.511781	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DBIL5P2	DBIL5P2	ENSG00000242412	Na	Na	Na	Na	Na	Na	Het;C>A	1195;79|57	Hom;C>A	4301;0|159
N	N	-	2	63346356	63346356	C	T	snp	ncRNA_exonic	 	 	 	 	DBIL5P2																		rs4671457	0.513778	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DBIL5P2	DBIL5P2	ENSG00000242412	Na	Na	Na	Na	Na	Na	Het;C>T	710;42|34	Hom;C>T	1926;0|71
N	N	-	2	64327544	64327544	G	T	snp	synonymous SNV	C291A	T97T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PELI1	Peli1	ENSG00000197329	pellino E3 ubiquitin protein ligase 1	chr2:64319786-64371588		Mucocutaneous Lymph Node Syndrome; Body Weight Changes	Mice homozygous for a knock-out allele exhibit reduced proinflammatory cytokine production, B cell proliferation, and mortality following treatment with LPS or pIpC.	IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	GO:0000209;protein polyubiquitination;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;IBA|GO:0008063;Toll signaling pathway;IBA|GO:0016567;protein ubiquitination;IEA|GO:0030890;positive regulation of B cell proliferation;IEA|GO:0031398;positive regulation of protein ubiquitination;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0034141;positive regulation of toll-like receptor 3 signaling pathway;IEA|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043331;response to dsRNA;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050871;positive regulation of B cell activation;IEA|GO:0070936;protein K48-linked ubiquitination;IBA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0034450;ubiquitin-ubiquitin ligase activity;TAS|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PELI1			https://www.ncbi.nlm.nih.gov/omim/?term=614797	http://www.informatics.jax.org/searchtool/Search.do?query=PELI1&submit=Quick%0D%16597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PELI1	rs329498	0.355631	0.2476	0.3365	1	0	0	exonic	exonic	exonic	PELI1	PELI1	ENSG00000197329	synonymous SNV	synonymous SNV	unknown	PELI1:NM_020651:exon4:c.C291A:p.T97T,	PELI1:uc002scs.4:exon3:c.C291A:p.T97T,PELI1:uc002sct.4:exon4:c.C291A:p.T97T,	UNKNOWN	Het;G>T	862;60|42	Hom;G>T	2532;0|93
N	N	-	2	64327592	64327592	T	C	snp	synonymous SNV	A243G	L81L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PELI1	Peli1	ENSG00000197329	pellino E3 ubiquitin protein ligase 1	chr2:64319786-64371588		Mucocutaneous Lymph Node Syndrome; Body Weight Changes	Mice homozygous for a knock-out allele exhibit reduced proinflammatory cytokine production, B cell proliferation, and mortality following treatment with LPS or pIpC.	IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	GO:0000209;protein polyubiquitination;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;IBA|GO:0008063;Toll signaling pathway;IBA|GO:0016567;protein ubiquitination;IEA|GO:0030890;positive regulation of B cell proliferation;IEA|GO:0031398;positive regulation of protein ubiquitination;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0034141;positive regulation of toll-like receptor 3 signaling pathway;IEA|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043331;response to dsRNA;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050871;positive regulation of B cell activation;IEA|GO:0070936;protein K48-linked ubiquitination;IBA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0034450;ubiquitin-ubiquitin ligase activity;TAS|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PELI1			https://www.ncbi.nlm.nih.gov/omim/?term=614797	http://www.informatics.jax.org/searchtool/Search.do?query=PELI1&submit=Quick%0D%16597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PELI1	rs329497	0.35024	0.2423	0.3352	1	0	0	exonic	exonic	exonic	PELI1	PELI1	ENSG00000197329	synonymous SNV	synonymous SNV	unknown	PELI1:NM_020651:exon4:c.A243G:p.L81L,	PELI1:uc002scs.4:exon3:c.A243G:p.L81L,PELI1:uc002sct.4:exon4:c.A243G:p.L81L,	UNKNOWN	Het;T>C	1356;62|67	Hom;T>C	3315;0|122
N	N	-	2	6510901	6510901	C	G	snp	ncRNA_intronic	 	 	 	 	LINC01247																		rs2126373	0.556909	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01247	LOC400940(dist=382537),LINC00487(dist=358399)	ENSG00000227007	Na	Na	Na	Na	Na	Na	Het;C>G	646;28|24	Hom;C>G	1231;0|35
N	N	-	2	65480681	65480686	TAAAAG	T	indel	intronic	 	 	 	 	ACTR2	Actr2	ENSG00000138071	ARP2 actin related protein 2 homolog	chr2:65454887-65498387	The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice.	Clathrin-mediated endocytosis	GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0008306;associative learning;IEA|GO:0008356;asymmetric cell division;IEA|GO:0016344;meiotic chromosome movement towards spindle pole;IEA|GO:0016482;cytosolic transport;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0033206;meiotic cytokinesis;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0035984;cellular response to trichostatin A;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0060271;cilium assembly;IMP|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061024;membrane organization;TAS	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;TAS|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0042995;cell projection;IEA|GO:0061825;podosome core;IEA|GO:0070062;extracellular exosome;IDA|GO:0071437;invadopodium;IEA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;IDA|GO:0005524;ATP binding;IEA|GO:0008092;cytoskeletal protein binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ACTR2	https://www.uniprot.org/uniprot/P61160		https://www.ncbi.nlm.nih.gov/omim/?term=604221	http://www.informatics.jax.org/searchtool/Search.do?query=ACTR2&submit=Quick%0D%7661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR2	rs113106233	0.403155	0	0	1	0	0	intronic	intronic	intronic	ACTR2	ACTR2	ENSG00000138071	Na	Na	Na	Na	Na	Na	Het;-AAAAG	125;2|4	Hom;-AAAAG	313;0|8
N	N	-	2	66652955	66652955	C	A	snp	ncRNA_exonic	 	 	 	 	MEIS1-AS3																		rs6738144	0.57488	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	MEIS1-AS3	MEIS1-AS3	ENSG00000226819	Na	Na	Na	Na	Na	Na	Het;C>A	1400;114|74	Hom;C>A	4978;0|188
N	N	-	2	66652982	66652982	C	G	snp	ncRNA_exonic	 	 	 	 	MEIS1-AS3																		rs6546230	0.606629	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	MEIS1-AS3	MEIS1-AS3	ENSG00000226819	Na	Na	Na	Na	Na	Na	Het;C>G	1382;133|74	Hom;C>G	4807;0|171
N	N	-	2	66653974	66653974	C	A	snp	ncRNA_exonic	 	 	 	 	MEIS1-AS3																		rs12622537	0.547125	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MEIS1-AS3	MEIS1-AS3	ENSG00000226819	Na	Na	Na	Na	Na	Na	Het;C>A	811;20|38	Hom;C>A	1460;3|57
N	N	-	2	66654097	66654097	T	A	snp	ncRNA_exonic	 	 	 	 	MEIS1-AS3																		rs12621789	0.570887	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MEIS1-AS3	MEIS1-AS3	ENSG00000226819	Na	Na	Na	Na	Na	Na	Het;T>A	1124;33|54	Hom;T>A	2505;3|91
N	N	-	2	66654298	66654299	GA	G	indel	ncRNA_intronic	 	 	 	 	MEIS1-AS3																		rs34893420	0.758387	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	MEIS1-AS3	MEIS1-AS3	ENSG00000226819	Na	Na	Na	Na	Na	Na	Het;-A	595;25|33	Hom;-A	1875;1|76
N	N	-	2	66660403	66660403	G	T	snp	ncRNA_intronic	 	 	 	 	MEIS1-AS3																		rs13033745	0.63119	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	MEIS1-AS3	MEIS1-AS3	ENSG00000226819	Na	Na	Na	Na	Na	Na	Het;G>T	400;27|19	Hom;G>T	709;2|29
N	N	-	2	66665146	66665146	T	C	snp	intronic	 	 	 	 	MEIS1	Meis1	ENSG00000143995	Meis homeobox 1	chr2:66660584-66801001	Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008]	PR interval; Body Weight; Type 2 Diabetes| edema | rosiglitazone; Restless Legs Syndrome; Breath Tests; Brain; restless legs syndrome; Nocturnal Myoclonus Syndrome|Restless Legs Syndrome|Tourette Syndrome; Metabolism; Triglycerides; Body Mass Index; Celiac Disease|; Tobacco Use Disorder; Electrocardiography; Waist Circumference	Homozygous mutant mice die during gestation and exhibit eye, vasculature, and hematopoietic defects. Mice homozygous for a conditional allele activated in HSCs exhibit altered bone marrow cell development, altered HSC physiology and increased reactive oxygen species production.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0001525;angiogenesis;IEA|GO:0002089;lens morphogenesis in camera-type eye;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007626;locomotory behavior;IEA|GO:0030097;hemopoiesis;IEA|GO:0035855;megakaryocyte development;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060216;definitive hemopoiesis;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEIS1	https://www.uniprot.org/uniprot/O00470		https://www.ncbi.nlm.nih.gov/omim/?term=601739	http://www.informatics.jax.org/searchtool/Search.do?query=MEIS1&submit=Quick%0D%8548ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIS1	rs2280334	0.565296	0.6262	0	1	0	0	intronic	intronic	intronic	MEIS1	MEIS1	ENSG00000143995	Na	Na	Na	Na	Na	Na	Het;T>C	831;22|28	Hom;T>C	1823;0|56
N	N	-	2	66667186	66667186	C	T	snp	ncRNA_intronic	 	 	 	 	MEIS1-AS2																		rs2271856	0.530152	0	0.6357	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	MEIS1-AS2	MEIS1	ENSG00000230749,ENSG00000244522	Na	Na	Na	Na	Na	Na	Het;C>T	31;5|3	Hom;C>T	346;0|12
N	N	-	2	67131465	67131465	T	C	snp	upstream	 	 	 	 	LOC101060019																		rs868373	0.244808	0	0	1	0	0	upstream	intergenic	upstream	LOC101060019	MEIS1(dist=331574),BC040863(dist=182113)	ENSG00000230525	Na	Na	Na	Na	Na	Na	Het;T>C	90;12|5	Hom;T>C	93;0|4
N	N	-	2	68385097	68385097	A	G	snp	nonsynonymous SNV	A31G	R11G	polar,hydrophilic,charged(+)	aliphatic,neutral	PNO1	Pno1	ENSG00000115946	partner of NOB1 homolog	chr2:68384976-68403370			Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PNO1	https://www.uniprot.org/uniprot/Q9NRX1			http://www.informatics.jax.org/searchtool/Search.do?query=PNO1&submit=Quick%0D%4679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNO1	rs2044693	0.768371	0.7406	0.7064	0.08	1	12	exonic	exonic	exonic	PNO1	PNO1	ENSG00000115946,ENSG00000273398	nonsynonymous SNV	nonsynonymous SNV	unknown	PNO1:NM_020143:exon1:c.A31G:p.R11G,	PNO1:uc002seh.3:exon1:c.A31G:p.R11G,	UNKNOWN	Het;A>G	1464;70|70	Hom;A>G	2932;0|107
N	N	-	2	68402012	68402012	G	T	snp	UTR3	*78G>T	 	 	 	PNO1	Pno1	ENSG00000115946	partner of NOB1 homolog	chr2:68384976-68403370			Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PNO1	https://www.uniprot.org/uniprot/Q9NRX1			http://www.informatics.jax.org/searchtool/Search.do?query=PNO1&submit=Quick%0D%4679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNO1	rs1060842	0.771765	0	0	1	0	0	UTR3	UTR3	UTR3	PNO1(NM_020143:c.*78G>T)	PNO1(uc002seh.3:c.*78G>T)	ENSG00000115946(ENST00000263657:c.*78G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	1301;72|62	Hom;G>T	2314;1|84
N	N	-	2	68402153	68402154	TA	T	indel	UTR3	*219_*220delinsT	 	 	 	PNO1	Pno1	ENSG00000115946	partner of NOB1 homolog	chr2:68384976-68403370			Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PNO1	https://www.uniprot.org/uniprot/Q9NRX1			http://www.informatics.jax.org/searchtool/Search.do?query=PNO1&submit=Quick%0D%4679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNO1	rs3836051	0.771965	0	0	1	0	0	UTR3	UTR3	UTR3	PNO1(NM_020143:c.*219_*220delinsT)	PNO1(uc002seh.3:c.*219_*220delinsT)	ENSG00000115946(ENST00000263657:c.*219_*220delinsT)	Na	Na	Na	Na	Na	Na	Het;-A	1263;48|42	Hom;-A	2957;0|82
N	N	-	2	68402786	68402796	TTTGCAGTTTC	T	indel	UTR3	*852_*862delinsT	 	 	 	PNO1	Pno1	ENSG00000115946	partner of NOB1 homolog	chr2:68384976-68403370			Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PNO1	https://www.uniprot.org/uniprot/Q9NRX1			http://www.informatics.jax.org/searchtool/Search.do?query=PNO1&submit=Quick%0D%4679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNO1	rs398060264	0	0	0	1	0	0	UTR3	UTR3	UTR3	PNO1(NM_020143:c.*852_*862delinsT)	PNO1(uc002seh.3:c.*852_*862delinsT)	ENSG00000115946(ENST00000263657:c.*852_*862delinsT)	Na	Na	Na	Na	Na	Na	Het;-TTGCAGTTTC	2906;98|78	Hom;-TTGCAGTTTC	6069;0|138
N	N	-	2	68402830	68402830	G	C	snp	UTR3	*896G>C	 	 	 	PNO1	Pno1	ENSG00000115946	partner of NOB1 homolog	chr2:68384976-68403370			Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PNO1	https://www.uniprot.org/uniprot/Q9NRX1			http://www.informatics.jax.org/searchtool/Search.do?query=PNO1&submit=Quick%0D%4679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNO1	rs10197082	0.771965	0	0	1	0	0	UTR3	UTR3	UTR3	PNO1(NM_020143:c.*896G>C)	PNO1(uc002seh.3:c.*896G>C)	ENSG00000115946(ENST00000263657:c.*896G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	2907;87|78	Hom;G>C	5979;0|136
N	N	-	2	68402835	68402835	A	G	snp	UTR3	*901A>G	 	 	 	PNO1	Pno1	ENSG00000115946	partner of NOB1 homolog	chr2:68384976-68403370			Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PNO1	https://www.uniprot.org/uniprot/Q9NRX1			http://www.informatics.jax.org/searchtool/Search.do?query=PNO1&submit=Quick%0D%4679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNO1	rs10173197	0.771965	0	0	1	0	0	UTR3	UTR3	UTR3	PNO1(NM_020143:c.*901A>G)	PNO1(uc002seh.3:c.*901A>G)	ENSG00000115946(ENST00000263657:c.*901A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	2826;84|74	Hom;A>G	5913;0|135
N	N	-	2	69173570	69173570	C	T	snp	nonsynonymous SNV	G338A	S113N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GKN2	Gkn2	ENSG00000183607	gastrokine 2	chr2:69172364-69180102	The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa. [provided by RefSeq, Dec 2015]	Lung Neoplasms	 		GO:0042127;regulation of cell proliferation;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0045178;basal part of cell;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GKN2				http://www.informatics.jax.org/searchtool/Search.do?query=GKN2&submit=Quick%0D%15022ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GKN2	rs1128272	0.313099	0.2103	0.1726	0.08	1	13	exonic	exonic	exonic	GKN2	GKN2	ENSG00000183607	nonsynonymous SNV	nonsynonymous SNV	unknown	GKN2:NM_182536:exon5:c.G338A:p.S113N,	GKN2:uc002sfa.3:exon5:c.G338A:p.S113N,GKN2:uc002sfb.4:exon5:c.G338A:p.S113N,	UNKNOWN	Het;C>T	1585;82|77	Hom;C>T	3722;3|145
N	N	-	2	69204671	69204671	A	T	snp	synonymous SNV	A99T	L33L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GKN1	Gkn1	ENSG00000169605	gastrokine 1	chr2:69201705-69208106	The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008]	Tunica Media; Albumins; Tobacco Use Disorder	 		GO:0007586;digestion;NAS|GO:0042127;regulation of cell proliferation;IBA|GO:0051781;positive regulation of cell division;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/GKN1			https://www.ncbi.nlm.nih.gov/omim/?term=606402	http://www.informatics.jax.org/searchtool/Search.do?query=GKN1&submit=Quick%0D%12527ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GKN1	rs9808077	0.285343	0.1771	0.1738	1	0	0	exonic	exonic	exonic	GKN1	GKN1	ENSG00000169605	synonymous SNV	synonymous SNV	unknown	GKN1:NM_019617:exon2:c.A99T:p.L33L,	GKN1:uc002sfc.3:exon2:c.A99T:p.L33L,	UNKNOWN	Het;A>T	596;51|31	Hom;A>T	1424;1|51
N	N	-	2	71175370	71175374	CTTTT	C	indel	ncRNA_exonic	 	 	 	 	ATP6V1B1-AS1																		rs397984964	0.678115	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	ATP6V1B1-AS1	ATP6V1B1	ENSG00000239322	Na	Na	Na	Na	Na	Na	Het;-TTTT	1223;30|34	Hom;-TTTT	2423;0|58
N	N	-	2	71175842	71175842	A	G	snp	intronic	 	 	 	 	ATP6V1B1	Atp6v1b1	ENSG00000116039	ATPase H+ transporting V1 subunit B1	chr2:71163012-71192536	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]	Hypertension; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology areimpaired.	Ion channel transport	GO:0001503;ossification;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006885;regulation of pH;IMP|GO:0007588;excretion;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IMP|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0042472;inner ear morphogenesis;IMP|GO:0045851;pH reduction;IMP|GO:0046034;ATP metabolic process;IEA|GO:0055074;calcium ion homeostasis;IMP|GO:0090383;phagosome acidification;TAS	GO:0005737;cytoplasm;ISS|GO:0005829;cytosol;TAS|GO:0005902;microvillus;ISS|GO:0008021;synaptic vesicle;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0016324;apical plasma membrane;IDA|GO:0016328;lateral plasma membrane;ISS|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IMP|GO:0033180;proton-transporting V-type ATPase, V1 domain;IEA|GO:0070062;extracellular exosome;IDA|GO:0098850;extrinsic component of synaptic vesicle membrane;IEA	GO:0005524;ATP binding;IEA|GO:0015078;hydrogen ion transmembrane transporter activity;ISS|GO:0016787;hydrolase activity;IEA|GO:0016820;hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances;IEA|GO:0032403;protein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP6V1B1	https://www.uniprot.org/uniprot/P15313	https://hpo.jax.org/app/browse/search?q=ATP6V1B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=192132	http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V1B1&submit=Quick%0D%4696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V1B1	rs2266919	0.808506	0	0	1	0	0	intronic	intronic	intronic	ATP6V1B1	ATP6V1B1	ENSG00000116039,ENSG00000258881	Na	Na	Na	Na	Na	Na	Het;A>G	252;5|8	Hom;A>G	129;0|5
N	N	-	2	71205976	71205976	A	G	snp	intronic	 	 	 	 	ANKRD53	Ankrd53	ENSG00000144031	ankyrin repeat domain 53	chr2:71205510-71212626		Glucose	 		GO:0007049;cell cycle;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1902412;regulation of mitotic cytokinesis;IMP	GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD53	https://www.uniprot.org/uniprot/Q8N9V6		https://www.ncbi.nlm.nih.gov/omim/?term=617009	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD53&submit=Quick%0D%8555ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD53	rs1115049	0.609625	0.6225	0.6706	1	0	0	intronic	intronic	intronic	ANKRD53	ANKRD53	ENSG00000144031,ENSG00000258881	Na	Na	Na	Na	Na	Na	Het;A>G	349;8|15	Hom;A>G	844;0|28
N	N	-	2	71206058	71206058	A	C	snp	intronic	 	 	 	 	ANKRD53	Ankrd53	ENSG00000144031	ankyrin repeat domain 53	chr2:71205510-71212626		Glucose	 		GO:0007049;cell cycle;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1902412;regulation of mitotic cytokinesis;IMP	GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD53	https://www.uniprot.org/uniprot/Q8N9V6		https://www.ncbi.nlm.nih.gov/omim/?term=617009	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD53&submit=Quick%0D%8555ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD53	rs1115050	0.672125	0	0	1	0	0	intronic	intronic	intronic	ANKRD53	ANKRD53	ENSG00000144031,ENSG00000258881	Na	Na	Na	Na	Na	Na	Het;A>C	101;2|4	Hom;A>C	287;0|10
N	N	-	2	71211989	71211989	A	G	snp	synonymous SNV	A1152G	T384T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ANKRD53	Ankrd53	ENSG00000144031	ankyrin repeat domain 53	chr2:71205510-71212626		Glucose	 		GO:0007049;cell cycle;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1902412;regulation of mitotic cytokinesis;IMP	GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD53	https://www.uniprot.org/uniprot/Q8N9V6		https://www.ncbi.nlm.nih.gov/omim/?term=617009	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD53&submit=Quick%0D%8555ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD53	rs3796099	0.673323	0.6809	0.6818	1	0	0	exonic	exonic	exonic	ANKRD53	ANKRD53	ENSG00000144031	synonymous SNV	synonymous SNV	unknown	ANKRD53:NM_001115116:exon6:c.A1152G:p.T384T,	ANKRD53:uc002shl.4:exon6:c.A1152G:p.T384T,	UNKNOWN	Het;A>G	2559;100|116	Hom;A>G	6044;0|210
N	N	-	2	71264791	71264791	T	C	snp	ncRNA_intronic	 	 	 	 	AC007881.2																		rs6718347	0.846046	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	OR7E91P(dist=7731),NAGK(dist=30617)	OR7E91P(dist=7731),TRNA_Pseudo(dist=8697)	ENSG00000236469	Na	Na	Na	Na	Na	Na	Het;T>C	880;22|40	Hom;T>C	3575;0|77
N	N	-	2	71264949	71264949	T	C	snp	ncRNA_exonic	 	 	 	 	OR7E46P																		rs6718523	0.857029	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR7E91P(dist=7889),NAGK(dist=30459)	OR7E91P(dist=7889),TRNA_Pseudo(dist=8539)	ENSG00000234485	Na	Na	Na	Na	Na	Na	Het;T>C	1268;54|57	Hom;T>C	2896;0|100
N	N	-	2	71265187	71265187	G	T	snp	ncRNA_exonic	 	 	 	 	OR7E46P																		rs9309445	0.796925	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR7E91P(dist=8127),NAGK(dist=30221)	OR7E91P(dist=8127),TRNA_Pseudo(dist=8301)	ENSG00000234485	Na	Na	Na	Na	Na	Na	Het;G>T	1103;82|58	Hom;G>T	3501;0|131
N	N	-	2	71265717	71265717	C	T	snp	ncRNA_exonic	 	 	 	 	OR7E46P																		rs35915661	0.743211	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR7E91P(dist=8657),NAGK(dist=29691)	OR7E91P(dist=8657),TRNA_Pseudo(dist=7771)	ENSG00000234485	Na	Na	Na	Na	Na	Na	Het;C>T	1466;63|68	Hom;C>T	3212;1|120
N	N	-	2	71268321	71268321	C	T	snp	ncRNA_intronic	 	 	 	 	AC007881.2																		rs7569452	0.0549121	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	OR7E91P(dist=11261),NAGK(dist=27087)	OR7E91P(dist=11261),TRNA_Pseudo(dist=5167)	ENSG00000236469	Na	Na	Na	Na	Na	Na	Het;C>T	48;1|3	Hom;C>T	71;0|4
N	N	-	2	7154826	7154826	A	AT	indel	intronic	 	 	 	 	RNF144A	Rnf144a	ENSG00000151692	ring finger protein 144A	chr2:7057523-7208417	The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Jul 2008]	Perphenazine; Longevity; Stroke; Iron; Schizophrenia; Cholesterol, LDL; Tobacco Use Disorder; Body Fat Distribution; Immunoglobulin E; Amyotrophic Lateral Sclerosis; Depressive Disorder, Major; response to antipsychotic treatment	 	E3 ubiquitin ligases ubiquitinate target proteins	GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;TAS|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA	GO:0000151;ubiquitin ligase complex;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/RNF144A	https://www.uniprot.org/uniprot/P50876			http://www.informatics.jax.org/searchtool/Search.do?query=RNF144A&submit=Quick%0D%9456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF144A	rs541962169	0.133387	0.2200	0.2204	1	0	0	intronic	intronic	intronic	RNF144A	RNF144A	ENSG00000151692	Na	Na	Na	Na	Na	Na	Het;+T	683;52|35	Hom;+T	1907;0|71
N	N	-	2	71747235	71747235	A	G	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs11675897	0.65595	0.8379	0	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;A>G	586;31|27	Hom;A>G	1410;0|47
N	N	-	2	71747432	71747432	G	T	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs11687223	0.563698	0	0	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;G>T	711;37|34	Hom;G>T	1885;0|68
N	N	-	2	71747851	71747851	T	C	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs12713755	0.65615	0	0	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;T>C	46;14|3	Hom;T>C	840;0|25
N	N	-	2	71755380	71755380	A	G	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs4852800	0.65635	0.8467	0.7466	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;A>G	1050;17|39	Hom;A>G	1758;0|60
N	N	-	2	71776346	71776346	A	G	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs934061	0.647165	0	0	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;A>G	155;9|5	Hom;A>G	167;0|5
N	N	-	2	71779032	71779032	G	A	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs7582130	0.461462	0	0	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;G>A	103;4|6	Hom;G>A	309;0|10
N	N	-	2	71780215	71780215	T	C	snp	synonymous SNV	T1788C	D596D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs2303596	0.575479	0.7349	0.6430	1	0	0	exonic	exonic	exonic	DYSF	DYSF	ENSG00000135636	synonymous SNV	synonymous SNV	unknown	DYSF:NM_001130977:exon19:c.T1785C:p.D595D,DYSF:NM_001130979:exon21:c.T1920C:p.D640D,DYSF:NM_001130982:exon21:c.T1923C:p.D641D,DYSF:NM_003494:exon20:c.T1827C:p.D609D,DYSF:NM_001130985:exon20:c.T1881C:p.D627D,DYSF:NM_001130980:exon20:c.T1878C:p.D626D,DYSF:NM_001130986:exon19:c.T1788C:p.D596D,DYSF:NM_001130987:exon20:c.T1881C:p.D627D,DYSF:NM_001130981:exon20:c.T1878C:p.D626D,DYSF:NM_001130976:exon19:c.T1785C:p.D595D,DYSF:NM_001130455:exon20:c.T1830C:p.D610D,DYSF:NM_001130978:exon20:c.T1827C:p.D609D,DYSF:NM_001130983:exon20:c.T1830C:p.D610D,DYSF:NM_001130984:exon19:c.T1788C:p.D596D,	DYSF:uc010fej.3:exon19:c.T1788C:p.D596D,DYSF:uc010feg.3:exon21:c.T1920C:p.D640D,DYSF:uc010fel.3:exon19:c.T1788C:p.D596D,DYSF:uc010fen.3:exon20:c.T1881C:p.D627D,DYSF:uc010fef.3:exon20:c.T1878C:p.D626D,DYSF:uc010fek.3:exon20:c.T1881C:p.D627D,DYSF:uc010feo.3:exon21:c.T1923C:p.D641D,DYSF:uc002sif.3:exon20:c.T1830C:p.D610D,DYSF:uc002sig.4:exon19:c.T1785C:p.D595D,DYSF:uc002sie.3:exon20:c.T1827C:p.D609D,DYSF:uc010feh.3:exon19:c.T1785C:p.D595D,DYSF:uc010fem.3:exon20:c.T1830C:p.D610D,DYSF:uc010fei.3:exon20:c.T1878C:p.D626D,DYSF:uc010fee.3:exon20:c.T1827C:p.D609D,	UNKNOWN	Het;T>C	1783;77|84	Hom;T>C	2126;0|78
N	N	-	2	71871039	71871039	A	G	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs84181	0.824681	0	0	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;A>G	143;18|7	Hom;A>G	728;1|25
N	N	-	2	71871236	71871236	A	G	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs84182	0.838259	0.8897	0.8594	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;A>G	1024;38|49	Hom;A>G	2865;2|105
N	N	-	2	71891361	71891361	C	T	snp	intronic	 	 	 	 	DYSF	Dysf	ENSG00000135636	dysferlin	chr2:71680852-71913898	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]	Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular	Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.	Smooth Muscle Contraction	GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS	GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYSF	https://www.uniprot.org/uniprot/O75923	https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603009	http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF	rs2303599	0.744808	0.8116	0.8202	1	0	0	intronic	intronic	intronic	DYSF	DYSF	ENSG00000135636	Na	Na	Na	Na	Na	Na	Het;C>T	1929;136|98	Hom;C>T	5399;0|205
N	N	-	2	72236493	72236499	GGGGGCA	G	indel	intergenic	 	 	 	 	RPS20P10																		rs10602579	0.565895	0	0	1	0	0	intergenic	intergenic	intergenic	DYSF(dist=322600),CYP26B1(dist=119868)	DYSF(dist=322600),CYP26B1(dist=119868)	ENSG00000233971(dist=24929),ENSG00000003137(dist=119868)	Na	Na	Na	Na	Na	Na	Het;-GGGGCA	111;5|4	Hom;-GGGGCA	58;0|3
N	N	-	2	72742083	72742085	GAC	G	indel	intronic	 	 	 	 	EXOC6B	Exoc6b	ENSG00000144036	exocyst complex component 6B	chr2:72403113-73053170	This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]		 		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA	GO:0000145;exocyst;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC6B	https://www.uniprot.org/uniprot/Q9Y2D4		https://www.ncbi.nlm.nih.gov/omim/?term=607880	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6B&submit=Quick%0D%8558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6B	rs397984991	0	0	0	1	0	0	intronic	intronic	intronic	EXOC6B	EXOC6B	ENSG00000144036	Na	Na	Na	Na	Na	Na	Het;-AC	92;3|5	Hom;-AC	456;0|15
N	N	-	2	73339708	73339708	G	A	snp	synonymous SNV	C198T	C66C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	RAB11FIP5	Rab11fip5	ENSG00000135631	RAB11 family interacting protein 5	chr2:73300510-73383849		Breath Tests; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a floxed allele are viable and fertile.		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0045055;regulated exocytosis;IBA|GO:0070164;negative regulation of adiponectin secretion;IDA|GO:0071468;cellular response to acidic pH;IDA|GO:2000008;regulation of protein localization to cell surface;IMP	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005815;microtubule organizing center;IDA|GO:0016020;membrane;IEA|GO:0030141;secretory granule;ISS|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055037;recycling endosome;ISS|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0043015;gamma-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP5	https://www.uniprot.org/uniprot/Q9BXF6		https://www.ncbi.nlm.nih.gov/omim/?term=605536	http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP5&submit=Quick%0D%7192ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP5	rs1864488	0.520567	0.5696	0.6750	1	0	0	exonic	exonic	exonic	RAB11FIP5	RAB11FIP5	ENSG00000135631	synonymous SNV	synonymous SNV	unknown	RAB11FIP5:NM_015470:exon1:c.C198T:p.C66C,	RAB11FIP5:uc002siu.4:exon1:c.C198T:p.C66C,	UNKNOWN	Het;G>A	1226;52|61	Hom;G>A	3059;0|113
N	N	-	2	73912899	73912899	A	G	snp	downstream	 	 	 	 	ALMS1P1																		rs12997018	0.512979	0	0	1	0	0	downstream	downstream	downstream	ALMS1P	ALMS1P	ENSG00000163016	Na	Na	Na	Na	Na	Na	Het;A>G	40;2|2	Hom;A>G	61;0|3
N	N	-	2	74128361	74128361	T	G	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1653258	0.467053	0	0	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;T>G	836;35|22	Hom;T>G	2302;0|51
N	N	-	2	74128369	74128369	G	A	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1632564	0.46845	0	0	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;G>A	957;45|30	Hom;G>A	2496;0|59
N	N	-	2	74128391	74128391	G	C	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1721241	0.700479	0.7640	0.7669	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;G>C	967;58|44	Hom;G>C	2770;0|93
N	N	-	2	74128433	74128433	C	T	snp	UTR5	-6C>T	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1050146	0.707867	0.7628	0.7697	1	0	0	UTR5	UTR5	UTR5	ACTG2(NM_001199893:c.-6C>T,NM_001615:c.-6C>T)	ACTG2(uc010fex.1:c.-6C>T,uc002sjw.3:c.-6C>T,uc010yrn.2:c.-6C>T,uc010fey.3:c.-6C>T)	ENSG00000163017(ENST00000438902:c.-6C>T,ENST00000409731:c.-6C>T,ENST00000429756:c.-6C>T,ENST00000345517:c.-6C>T,ENST00000442912:c.-6C>T,ENST00000409918:c.-6C>T,ENST00000409624:c.-6C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1961;106|99	Hom;C>T	4624;0|173
N	N	-	2	74129474	74129474	T	C	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1726025	0.562899	0.5568	0.5897	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;T>C	596;22|27	Hom;T>C	1208;0|42
N	N	-	2	74129664	74129664	A	G	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1653256	0.5625	0.5570	0.5896	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;A>G	664;29|32	Hom;A>G	3107;0|113
N	N	-	2	74129712	74129712	C	G	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1721243	0.54353	0	0.5942	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;C>G	727;14|31	Hom;C>G	1990;0|67
N	N	-	2	74129895	74129895	G	A	snp	UTR3	*40G>A	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs1721244	0.541933	0	0.5379	1	0	0	intronic	UTR3	UTR3	ACTG2	ACTG2(uc010fex.1:c.*40G>A)	ENSG00000163017(ENST00000409918:c.*40G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	138;21|9	Hom;G>A	559;0|22
N	N	-	2	74135732	74135732	G	A	snp	UTR3	*253G>A	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs702460	0.571885	0	0	1	0	0	intronic	intronic	UTR3	ACTG2	ACTG2	ENSG00000163017(ENST00000438902:c.*253G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	296;21|15	Hom;G>A	469;1|18
N	N	-	2	74135797	74135797	T	C	snp	UTR3	*318T>C	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs702461	0.575879	0.5947	0.6476	1	0	0	intronic	intronic	UTR3	ACTG2	ACTG2	ENSG00000163017(ENST00000438902:c.*318T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	729;46|39	Hom;T>C	1796;1|70
N	N	-	2	74135898	74135898	A	G	snp	synonymous SNV	A225G	E75E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs756128	0.571885	0.5900	0.6403	1	0	0	exonic	exonic	exonic	ACTG2	ACTG2	ENSG00000163017	synonymous SNV	synonymous SNV	unknown	ACTG2:NM_001199893:exon3:c.A225G:p.E75E,ACTG2:NM_001615:exon4:c.A354G:p.E118E,	ACTG2:uc010yrn.2:exon3:c.A225G:p.E75E,ACTG2:uc010fey.3:exon5:c.A354G:p.E118E,ACTG2:uc002sjw.3:exon4:c.A354G:p.E118E,	UNKNOWN	Het;A>G	536;42|22	Hom;A>G	1860;1|73
N	N	-	2	74140581	74140581	A	T	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs891699	0.599441	0.6197	0.6524	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;A>T	994;39|45	Hom;A>T	1816;0|66
N	N	-	2	74140789	74140789	T	C	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs891698	0.60004	0.6196	0.6494	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;T>C	666;21|28	Hom;T>C	1104;0|39
N	N	-	2	74140888	74140888	A	C	snp	intronic	 	 	 	 	ACTG2	Actg2	ENSG00000163017	actin, gamma 2, smooth muscle, enteric	chr2:74119441-74146992	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]	Cholestasis|Pre-Eclampsia|Pregnancy Complications	 	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTG2		https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102545	http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2	rs891697	0.501997	0	0	1	0	0	intronic	intronic	intronic	ACTG2	ACTG2	ENSG00000163017	Na	Na	Na	Na	Na	Na	Het;A>C	370;7|12	Hom;A>C	122;0|4
N	N	-	2	74273383	74273383	T	TC	indel	intronic	 	 	 	 	TET3	Tet3	ENSG00000187605	tet methylcytosine dioxygenase 3	chr2:74229840-74335303	Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010]	Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myeloproliferative Disorders; Hematocrit; Hemoglobins; Tobacco Use Disorder	Mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability.	TET1,2,3 and TDG demethylate DNA	GO:0006493;protein O-linked glycosylation;IMP|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0044727;DNA demethylation of male pronucleus;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;ISS|GO:0080182;histone H3-K4 trimethylation;IMP|GO:0006493;protein O-linked glycosylation;IMP|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0044727;DNA demethylation of male pronucleus;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;ISS|GO:0080182;histone H3-K4 trimethylation;IMP	GO:0001940;male pronucleus;ISS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070579;methylcytosine dioxygenase activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TET3	https://www.uniprot.org/uniprot/O43151		https://www.ncbi.nlm.nih.gov/omim/?term=613555	http://www.informatics.jax.org/searchtool/Search.do?query=TET3&submit=Quick%0D%6ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TET3	rs11426743	0.271366	0	0.2816	1	0	0	intronic	intronic	intronic	TET3	TET3	ENSG00000187605	Na	Na	Na	Na	Na	Na	Het;+C	262;15|12	Hom;+C	947;0|28
N	N	-	2	74300717	74300717	T	C	snp	synonymous SNV	T2131C	L711L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TET3	Tet3	ENSG00000187605	tet methylcytosine dioxygenase 3	chr2:74229840-74335303	Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010]	Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myeloproliferative Disorders; Hematocrit; Hemoglobins; Tobacco Use Disorder	Mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability.	TET1,2,3 and TDG demethylate DNA	GO:0006493;protein O-linked glycosylation;IMP|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0044727;DNA demethylation of male pronucleus;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;ISS|GO:0080182;histone H3-K4 trimethylation;IMP|GO:0006493;protein O-linked glycosylation;IMP|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0044727;DNA demethylation of male pronucleus;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;ISS|GO:0080182;histone H3-K4 trimethylation;IMP	GO:0001940;male pronucleus;ISS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070579;methylcytosine dioxygenase activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TET3	https://www.uniprot.org/uniprot/O43151		https://www.ncbi.nlm.nih.gov/omim/?term=613555	http://www.informatics.jax.org/searchtool/Search.do?query=TET3&submit=Quick%0D%6ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TET3	rs7560668	0.359625	0.4150	0.3177	1	0	0	exonic	exonic	exonic	TET3	TET3	ENSG00000187605	synonymous SNV	synonymous SNV	unknown	TET3:NM_001287491:exon4:c.T2536C:p.L846L,	TET3:uc031roi.1:exon2:c.T2131C:p.L711L,TET3:uc002skb.5:exon4:c.T2536C:p.L846L,TET3:uc010fez.3:exon2:c.T2131C:p.L711L,	UNKNOWN	Het;T>C	966;47|46	Hom;T>C	1780;0|68
N	N	-	2	74362459	74362459	T	TAGC	indel	UTR3	*553T>TAGC	 	 	 	AC073263.1																		rs2308245	0	0	0	1	0	0	downstream	downstream	UTR3	BOLA3	BOLA3	ENSG00000217702(ENST00000401851:c.*553T>TAGC)	Na	Na	Na	Na	Na	Na	Het;+AGC	215;14|7	Hom;+AGC	812;0|18
N	N	-	2	75099381	75099381	T	C	snp	intronic	 	 	 	 	HK2	Hk2	ENSG00000159399	hexokinase 2	chr2:75061108-75120486	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]	diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression	Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK2			https://www.ncbi.nlm.nih.gov/omim/?term=601125	http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2	rs3732300	0.183307	0.1960	0.1860	1	0	0	intronic	intronic	intronic	HK2	HK2	ENSG00000159399	Na	Na	Na	Na	Na	Na	Het;T>C	367;13|16	Hom;T>C	743;0|27
N	N	-	2	75099477	75099477	A	T	snp	nonsynonymous SNV	A426T	Q142H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	HK2	Hk2	ENSG00000159399	hexokinase 2	chr2:75061108-75120486	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]	diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression	Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK2			https://www.ncbi.nlm.nih.gov/omim/?term=601125	http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2	rs2229621	0.179513	0.1908	0.1828	0.31	4	13	exonic	exonic	exonic	HK2	HK2	ENSG00000159399	nonsynonymous SNV	nonsynonymous SNV	unknown	HK2:NM_000189:exon4:c.A426T:p.Q142H,	HK2:uc002snd.3:exon4:c.A426T:p.Q142H,	UNKNOWN	Het;A>T	834;52|41	Hom;A>T	2433;0|93
N	N	-	2	75101454	75101454	T	C	snp	synonymous SNV	T753C	D251D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	HK2	Hk2	ENSG00000159399	hexokinase 2	chr2:75061108-75120486	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]	diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression	Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK2			https://www.ncbi.nlm.nih.gov/omim/?term=601125	http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2	rs2229622	0.315695	0.3092	0.2322	1	0	0	exonic	exonic	exonic	HK2	HK2	ENSG00000159399	synonymous SNV	synonymous SNV	unknown	HK2:NM_000189:exon7:c.T753C:p.D251D,	HK2:uc002snd.3:exon7:c.T753C:p.D251D,	UNKNOWN	Het;T>C	993;56|49	Hom;T>C	2638;0|96
N	N	-	2	75104218	75104218	A	G	snp	intronic	 	 	 	 	HK2	Hk2	ENSG00000159399	hexokinase 2	chr2:75061108-75120486	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]	diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression	Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK2			https://www.ncbi.nlm.nih.gov/omim/?term=601125	http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2	rs10153634	0.182308	0	0	1	0	0	intronic	intronic	intronic	HK2	HK2	ENSG00000159399	Na	Na	Na	Na	Na	Na	Het;A>G	182;3|8	Hom;A>G	304;0|10
N	N	-	2	75107367	75107367	T	G	snp	intronic	 	 	 	 	HK2	Hk2	ENSG00000159399	hexokinase 2	chr2:75061108-75120486	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]	diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression	Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK2			https://www.ncbi.nlm.nih.gov/omim/?term=601125	http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2	rs1807090	0.123802	0.1322	0.1583	1	0	0	intronic	intronic	intronic	HK2	HK2	ENSG00000159399	Na	Na	Na	Na	Na	Na	Het;T>G	849;38|38	Hom;T>G	2839;0|105
N	N	-	2	75108744	75108744	A	G	snp	intronic	 	 	 	 	HK2	Hk2	ENSG00000159399	hexokinase 2	chr2:75061108-75120486	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]	diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression	Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK2			https://www.ncbi.nlm.nih.gov/omim/?term=601125	http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2	rs2306805	0.168331	0	0	1	0	0	intronic	intronic	intronic	HK2	HK2	ENSG00000159399	Na	Na	Na	Na	Na	Na	Het;A>G	72;6|3	Hom;A>G	488;0|13
N	N	-	2	75113903	75113903	A	G	snp	intronic	 	 	 	 	HK2	Hk2	ENSG00000159399	hexokinase 2	chr2:75061108-75120486	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]	diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression	Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK2			https://www.ncbi.nlm.nih.gov/omim/?term=601125	http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2	rs17741356	0.169928	0	0	1	0	0	intronic	intronic	intronic	HK2	HK2	ENSG00000159399	Na	Na	Na	Na	Na	Na	Het;A>G	137;13|8	Hom;A>G	528;0|17
N	N	-	2	75159388	75159388	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01291																		rs59515571	0.316494	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	LINC01291	AK125960	ENSG00000204792	Na	Na	Na	Na	Na	Na	Het;C>T	349;38|19	Hom;C>T	1161;0|47
N	N	-	2	75159768	75159770	GTT	G	indel	ncRNA_intronic	 	 	 	 	AK125960																		rs112497333	0.339457	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01291	AK125960	ENSG00000204792	Na	Na	Na	Na	Na	Na	Het;-TT	1061;47|44	Hom;-TT	1731;13|60
N	N	-	2	75877409	75877410	GA	G	indel	intronic	 	 	 	 	MRPL19	Mrpl19	ENSG00000115364	mitochondrial ribosomal protein L19	chr2:75873909-75917977	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]	dyslexia; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Mitochondrial translation termination	GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031965;nuclear membrane;IDA	GO:0003735;structural constituent of ribosome;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL19	https://www.uniprot.org/uniprot/P49406		https://www.ncbi.nlm.nih.gov/omim/?term=611832	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL19&submit=Quick%0D%4593ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL19	rs3836196	0.319089	0	0	1	0	0	intronic	intronic	intronic	MRPL19	MRPL19	ENSG00000115364	Na	Na	Na	Na	Na	Na	Het;-A	76;2|5	Hom;-A	72;0|4
N	N	-	2	75877578	75877578	C	T	snp	intronic	 	 	 	 	MRPL19	Mrpl19	ENSG00000115364	mitochondrial ribosomal protein L19	chr2:75873909-75917977	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]	dyslexia; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Mitochondrial translation termination	GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031965;nuclear membrane;IDA	GO:0003735;structural constituent of ribosome;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL19	https://www.uniprot.org/uniprot/P49406		https://www.ncbi.nlm.nih.gov/omim/?term=611832	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL19&submit=Quick%0D%4593ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL19	rs1990144	0.488818	0	0	1	0	0	intronic	intronic	intronic	MRPL19	MRPL19	ENSG00000115364	Na	Na	Na	Na	Na	Na	Het;C>T	470;27|23	Hom;C>T	1016;0|39
N	N	-	2	75877650	75877650	G	A	snp	intronic	 	 	 	 	MRPL19	Mrpl19	ENSG00000115364	mitochondrial ribosomal protein L19	chr2:75873909-75917977	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]	dyslexia; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Mitochondrial translation termination	GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031965;nuclear membrane;IDA	GO:0003735;structural constituent of ribosome;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MRPL19	https://www.uniprot.org/uniprot/P49406		https://www.ncbi.nlm.nih.gov/omim/?term=611832	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL19&submit=Quick%0D%4593ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL19	rs1990145	0.282947	0	0	1	0	0	intronic	intronic	intronic	MRPL19	MRPL19	ENSG00000115364	Na	Na	Na	Na	Na	Na	Het;G>A	294;12|15	Hom;G>A	465;0|15
N	N	-	2	76037964	76037964	G	A	snp	intergenic	 	 	 	 	AC005034.4																		rs58550687	0.539137	0	0	1	0	0	intergenic	intergenic	intergenic	GCFC2(dist=99853),LRRTM4(dist=936886)	GCFC2(dist=99853),LRRTM4(dist=936886)	ENSG00000270996(dist=90820),ENSG00000233107(dist=295178)	Na	Na	Na	Na	Na	Na	Het;G>A	192;31|13	Hom;G>A	880;0|33
N	N	-	2	76088046	76088046	C	CT	indel	intergenic	 	 	 	 	AC005034.4																		rs397754815	0.677117	0	0	1	0	0	intergenic	intergenic	intergenic	GCFC2(dist=149935),LRRTM4(dist=886804)	GCFC2(dist=149935),LRRTM4(dist=886804)	ENSG00000270996(dist=140902),ENSG00000233107(dist=245096)	Na	Na	Na	Na	Na	Na	Het;+T	2315;19|110	Hom;+T	2913;11|124
N	N	-	2	79364979	79364979	G	A	snp	ncRNA_exonic	 	 	 	 	REG1P																		rs892867	0.700479	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	REG1P	REG1P	ENSG00000204787	Na	Na	Na	Na	Na	Na	Het;G>A	1726;68|83	Hom;G>A	3545;1|130
N	N	-	2	79726421	79726421	C	A	snp	ncRNA_intronic	 	 	 	 	LOC101927987																		rs13429335	0.301118	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101927987	CTNNA2	ENSG00000229385	Na	Na	Na	Na	Na	Na	Het;C>A	581;18|24	Hom;C>A	1135;2|48
N	N	-	2	79878922	79878922	T	A	snp	intronic	 	 	 	 	CTNNA2	Ctnna2	ENSG00000066032	catenin alpha 2	chr2:79412357-80875905		smoking cessation; Body Mass Index; Alcoholism; Celiac Disease|; Tobacco Use Disorder; Coronary Artery Disease; Blood Pressure; Insulin Resistance; Interleukin-10; Adult ADHD | attention deficit hyperactivity disorder; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules; Pancreatic Neoplasms; Lipoproteins, HDL; Heart Rate; Waist-Hip Ratio; Bipolar disorder; Body Weight; Arteries; Glucose	Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus.	CDO in myogenesis	GO:0007010;cytoskeleton organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;ISS|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0021942;radial glia guided migration of Purkinje cell;ISS|GO:0030154;cell differentiation;IEA|GO:0048813;dendrite morphogenesis;ISS|GO:0048854;brain morphogenesis;ISS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051823;regulation of synapse structural plasticity;ISS|GO:0060134;prepulse inhibition;ISS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTNNA2	https://www.uniprot.org/uniprot/P26232	https://hpo.jax.org/app/browse/search?q=CTNNA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114025	http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA2&submit=Quick%0D%1203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA2	rs78677982	0.143371	0	0	1	0	0	intronic	intronic	intronic	CTNNA2	CTNNA2	ENSG00000066032	Na	Na	Na	Na	Na	Na	Het;T>A	228;9|8	Hom;T>A	165;0|5
N	N	-	2	83584984	83584984	A	G	snp	intergenic	 	 	 	 	AC138623.1																		rs75153928	0.157947	0	0	1	0	0	intergenic	intergenic	intergenic	LOC1720(dist=500091),FUNDC2P2(dist=932822)	LOC1720(dist=500091),FUNDC2P2(dist=932822)	ENSG00000223977(dist=138755),ENSG00000232548(dist=164954)	Na	Na	Na	Na	Na	Na	Het;A>G	1065;23|48	Hom;A>G	1443;0|54
N	N	-	2	83833025	83833025	A	G	snp	intergenic	 	 	 	 	RPL37P10																		rs62155703	0.0728834	0	0	1	0	0	intergenic	intergenic	intergenic	LOC1720(dist=748132),FUNDC2P2(dist=684781)	LOC1720(dist=748132),FUNDC2P2(dist=684781)	ENSG00000224627(dist=10658),ENSG00000199295(dist=51834)	Na	Na	Na	Na	Na	Na	Het;A>G	158;9|9	Hom;A>G	565;0|24
N	N	-	2	849912	849914	AGG	A	indel	ncRNA_intronic	 	 	 	 	LOC339822																		rs56169510	0.82508	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01115	LOC339822	ENSG00000237667	Na	Na	Na	Na	Na	Na	Het;-GG	481;5|21	Hom;-GG	824;0|21
N	N	-	2	849942	849942	C	CCT	indel	ncRNA_intronic	 	 	 	 	LOC339822																		rs368545256	0.180711	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01115	LOC339822	ENSG00000237667	Na	Na	Na	Na	Na	Na	Het;+CT	116;2|5	Hom;+CT	108;0|4
N	N	-	2	85075499	85075503	TAGAC	T	indel	intronic	 	 	 	 	TRABD2A	 	ENSG00000186854	TraB domain containing 2A	chr2:85048774-85134132		Stroke	 		GO:0006508;proteolysis;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0032461;positive regulation of protein oligomerization;ISS|GO:0060322;head development;ISS|GO:1904808;positive regulation of protein oxidation;ISS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031301;integral component of organelle membrane;IDA	GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017147;Wnt-protein binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRABD2A			https://www.ncbi.nlm.nih.gov/omim/?term=614912	http://www.informatics.jax.org/searchtool/Search.do?query=TRABD2A&submit=Quick%0D%15722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRABD2A	rs60415822	0	0	0	1	0	0	intronic	intronic	intronic	TRABD2A	TRABD2A	ENSG00000186854	Na	Na	Na	Na	Na	Na	Het;-AGAC	85;31|9	Hom;-AGAC	632;0|17
N	N	-	2	85808573	85808573	T	C	snp	intronic	 	 	 	 	VAMP8	Vamp8	ENSG00000118640	vesicle associated membrane protein 8	chr2:85788685-85809154	This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]	Coronary Disease|Coronary heart disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; glaucoma, primary open-angle; Hypertension/complications*; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Acquired Immunodeficiency Syndrome|Disease Progression	Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality.	Clathrin-mediated endocytosis	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016240;autophagosome docking;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IMP|GO:0061024;membrane organization;TAS|GO:0065009;regulation of molecular function;IEA|GO:0070254;mucus secretion;IMP|GO:0097352;autophagosome maturation;IMP|GO:1903076;regulation of protein localization to plasma membrane;IDA|GO:1903531;negative regulation of secretion by cell;IDA|GO:1903595;positive regulation of histamine secretion by mast cell;IMP	GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098594;mucin granule;IDA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VAMP8	https://www.uniprot.org/uniprot/Q9BV40		https://www.ncbi.nlm.nih.gov/omim/?term=603177	http://www.informatics.jax.org/searchtool/Search.do?query=VAMP8&submit=Quick%0D%4997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP8	rs1972297	0.417133	0	0	1	0	0	intronic	intronic	intronic	VAMP8	VAMP8	ENSG00000118640	Na	Na	Na	Na	Na	Na	Het;T>C	169;1|7	Hom;T>C	182;0|6
N	N	-	2	85808594	85808595	CA	C	indel	intronic	 	 	 	 	VAMP8	Vamp8	ENSG00000118640	vesicle associated membrane protein 8	chr2:85788685-85809154	This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]	Coronary Disease|Coronary heart disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; glaucoma, primary open-angle; Hypertension/complications*; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Acquired Immunodeficiency Syndrome|Disease Progression	Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality.	Clathrin-mediated endocytosis	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016240;autophagosome docking;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IMP|GO:0061024;membrane organization;TAS|GO:0065009;regulation of molecular function;IEA|GO:0070254;mucus secretion;IMP|GO:0097352;autophagosome maturation;IMP|GO:1903076;regulation of protein localization to plasma membrane;IDA|GO:1903531;negative regulation of secretion by cell;IDA|GO:1903595;positive regulation of histamine secretion by mast cell;IMP	GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098594;mucin granule;IDA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VAMP8	https://www.uniprot.org/uniprot/Q9BV40		https://www.ncbi.nlm.nih.gov/omim/?term=603177	http://www.informatics.jax.org/searchtool/Search.do?query=VAMP8&submit=Quick%0D%4997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP8	rs11326680	0.525559	0	0	1	0	0	intronic	intronic	intronic	VAMP8	VAMP8	ENSG00000118640	Na	Na	Na	Na	Na	Na	Het;-A	243;3|16	Hom;-A	308;0|16
N	N	-	2	86352393	86352393	G	A	snp	intronic	 	 	 	 	PTCD3	Ptcd3	ENSG00000132300	pentatricopeptide repeat domain 3	chr2:86333305-86369280		Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone	 	Mitochondrial translation termination	GO:0006417;regulation of translation;IEA|GO:0032543;mitochondrial translation;IMP|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IEA|GO:0005886;plasma membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IDA|GO:0043024;ribosomal small subunit binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PTCD3	https://www.uniprot.org/uniprot/Q96EY7		https://www.ncbi.nlm.nih.gov/omim/?term=614918	http://www.informatics.jax.org/searchtool/Search.do?query=PTCD3&submit=Quick%0D%6646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTCD3	rs13424070	0.00858626	0	0	1	0	0	intronic	intronic	intronic	PTCD3	PTCD3	ENSG00000132300	Na	Na	Na	Na	Na	Na	Het;G>A	91;4|4	Hom;G>A	104;0|4
N	N	-	2	86385682	86385683	TC	T	indel	intronic	 	 	 	 	IMMT	Immt	ENSG00000132305	inner membrane mitochondrial protein	chr2:86371055-86422893		Acquired Immunodeficiency Syndrome|Disease Progression	 	Cristae formation	GO:0008150;biological_process;ND|GO:0042407;cristae formation;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043209;myelin sheath;IEA|GO:0061617;MICOS complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IMMT	https://www.uniprot.org/uniprot/Q16891		https://www.ncbi.nlm.nih.gov/omim/?term=600378	http://www.informatics.jax.org/searchtool/Search.do?query=IMMT&submit=Quick%0D%6647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IMMT	rs34945759	0.262181	0.3838	0.4320	1	0	0	intronic	intronic	intronic	IMMT	IMMT	ENSG00000132305	Na	Na	Na	Na	Na	Na	Het;-C	525;4|27	Hom;-C	1042;0|25
N	N	-	2	8703374	8703374	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101929567																		rs13008597	0.536542	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929567	LINC00299(dist=234825),ID2(dist=118739)	ENSG00000236008	Na	Na	Na	Na	Na	Na	Het;T>C	893;1|22	Hom;T>C	1257;0|29
N	N	-	2	8703377	8703377	A	T	snp	ncRNA_exonic	 	 	 	 	LOC101929567																		rs34028016	0.536542	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929567	LINC00299(dist=234828),ID2(dist=118736)	ENSG00000236008	Na	Na	Na	Na	Na	Na	Het;A>T	893;1|22	Hom;A>T	1232;0|26
N	N	-	2	8703382	8703382	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101929567																		rs13008600	0.536542	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929567	LINC00299(dist=234833),ID2(dist=118731)	ENSG00000236008	Na	Na	Na	Na	Na	Na	Het;T>C	893;1|22	Hom;T>C	962;0|21
N	N	-	2	87580959	87580959	C	G	snp	intronic	 	 	 	 	RMND5A	Rmnd5a	ENSG00000153561	required for meiotic nuclear division 5 homolog A	chr2:86947296-87005164			 		GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0034657;GID complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RMND5A	https://www.uniprot.org/uniprot/Q9H871			http://www.informatics.jax.org/searchtool/Search.do?query=RMND5A&submit=Quick%0D%9674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RMND5A	rs62145343	0.486222	0	0	1	0	0	intergenic	intronic	intergenic	MIR4771-2(dist=158977),LINC00152(dist=174015)	RMND5A	ENSG00000233999(dist=14801),ENSG00000225049(dist=5218)	Na	Na	Na	Na	Na	Na	Het;C>G	171;4|6	Hom;C>G	120;0|6
N	N	-	2	87655714	87655714	C	A	snp	intronic	 	 	 	 	RMND5A	Rmnd5a	ENSG00000153561	required for meiotic nuclear division 5 homolog A	chr2:86947296-87005164			 		GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0034657;GID complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RMND5A	https://www.uniprot.org/uniprot/Q9H871			http://www.informatics.jax.org/searchtool/Search.do?query=RMND5A&submit=Quick%0D%9674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RMND5A	rs62645054	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR4771-2(dist=233732),LINC00152(dist=99260)	RMND5A	ENSG00000224881(dist=47824),ENSG00000222041(dist=99173)	Na	Na	Na	Na	Na	Na	Het;C>A	74;4|3	Hom;C>A	242;0|8
N	N	-	2	87655722	87655722	T	G	snp	intronic	 	 	 	 	RMND5A	Rmnd5a	ENSG00000153561	required for meiotic nuclear division 5 homolog A	chr2:86947296-87005164			 		GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0034657;GID complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RMND5A	https://www.uniprot.org/uniprot/Q9H871			http://www.informatics.jax.org/searchtool/Search.do?query=RMND5A&submit=Quick%0D%9674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RMND5A	rs62645055	0	0	0	1	0	0	intergenic	intronic	intergenic	MIR4771-2(dist=233740),LINC00152(dist=99252)	RMND5A	ENSG00000224881(dist=47832),ENSG00000222041(dist=99165)	Na	Na	Na	Na	Na	Na	Het;T>G	134;2|4	Hom;T>G	177;0|5
N	N	-	2	89104697	89104697	T	A	snp	ncRNA_intronic	 	 	 	 	ANKRD36BP2																		rs6737140	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ANKRD36BP2	ANKRD36BP2	ENSG00000230006	Na	Na	Na	Na	Na	Na	Het;T>A	170;3|7	Hom;T>A	146;0|5
N	N	-	2	895975	895975	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101060385																		rs61734976	0.0974441	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101060385	LOC339822(dist=31863),SNTG2(dist=50579)	ENSG00000228799	Na	Na	Na	Na	Na	Na	Het;C>T	778;72|45	Hom;C>T	5650;0|128
N	N	-	2	8996728	8996728	A	G	snp	UTR3	*2081T>C	 	 	 	MBOAT2	Mboat2	ENSG00000143797	membrane bound O-acyltransferase domain containing 2	chr2:8992820-9143942			 	Acyl chain remodelling of PE	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003841;1-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0047144;2-acylglycerol-3-phosphate O-acyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MBOAT2	https://www.uniprot.org/uniprot/Q6ZWT7		https://www.ncbi.nlm.nih.gov/omim/?term=611949	http://www.informatics.jax.org/searchtool/Search.do?query=MBOAT2&submit=Quick%0D%8514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MBOAT2	rs1550254	0.438898	0	0	1	0	0	UTR3	UTR3	UTR3	MBOAT2(NM_138799:c.*2081T>C)	MBOAT2(uc002qzg.1:c.*2081T>C)	ENSG00000143797(ENST00000305997:c.*2081T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	532;18|24	Hom;A>G	758;0|27
N	N	-	2	90485847	90485847	G	C	snp	intergenic	 	 	 	 	IGKV1OR2-118																		rs368622450	0	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4436A(dist=1373879),LOC654342(dist=1338862)	abParts(dist=14671),DQ576041(dist=7961)	ENSG00000270999(dist=27176),ENSG00000237474(dist=26648)	Na	Na	Na	Na	Na	Na	Het;G>C	84;1|3	Hom;G>C	411;0|10
N	N	-	2	90485882	90485882	G	A	snp	intergenic	 	 	 	 	IGKV1OR2-118																		rs371909950	0	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4436A(dist=1373914),LOC654342(dist=1338827)	abParts(dist=14706),DQ576041(dist=7926)	ENSG00000270999(dist=27211),ENSG00000237474(dist=26613)	Na	Na	Na	Na	Na	Na	Het;G>A	128;1|5	Hom;G>A	576;0|15
N	N	-	2	91744687	91744687	C	T	snp	intergenic	 	 	 	 	ENSG00000235388																		rs3976220	0.551917	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC654342(dist=80022)	DQ571479(dist=21095),LOC654342(dist=60501)	ENSG00000235388(dist=3894),ENSG00000230964(dist=21850)	Na	Na	Na	Na	Na	Na	Het;C>T	50;2|2	Hom;C>T	287;0|7
N	N	-	2	91744700	91744700	C	A	snp	intergenic	 	 	 	 	ENSG00000235388																		rs2902806	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC654342(dist=80009)	DQ571479(dist=21108),LOC654342(dist=60488)	ENSG00000235388(dist=3907),ENSG00000230964(dist=21837)	Na	Na	Na	Na	Na	Na	Het;C>A	87;4|4	Hom;C>A	287;0|7
N	N	-	2	91759762	91759762	G	A	snp	intergenic	 	 	 	 	ENSG00000235388																		rs2580583	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LOC654342(dist=64947)	DQ571479(dist=36170),LOC654342(dist=45426)	ENSG00000235388(dist=18969),ENSG00000230964(dist=6775)	Na	Na	Na	Na	Na	Na	Het;G>A	35;1|2	Hom;G>A	57;0|3
N	N	-	2	91766779	91766779	A	T	snp	downstream	 	 	 	 	AC233266.1																		rs2433881	0	0	0	1	0	0	intergenic	intergenic	downstream	NONE(dist=NONE),LOC654342(dist=57930)	DQ571479(dist=43187),LOC654342(dist=38409)	ENSG00000230964	Na	Na	Na	Na	Na	Na	Het;A>T	61;2|3	Hom;A>T	75;0|3
N	N	-	2	91776974	91776974	A	C	snp	upstream	 	 	 	 	ENSG00000233991																		rs4005062	0	0	0	1	0	0	intergenic	intergenic	upstream	NONE(dist=NONE),LOC654342(dist=47735)	DQ571479(dist=53382),LOC654342(dist=28214)	ENSG00000233991	Na	Na	Na	Na	Na	Na	Het;A>C	116;2|4	Hom;A>C	143;0|4
N	N	-	2	91777066	91777066	A	G	snp	upstream	 	 	 	 	ENSG00000233991																		rs4005063	0	0	0	1	0	0	intergenic	intergenic	upstream	NONE(dist=NONE),LOC654342(dist=47643)	DQ571479(dist=53474),LOC654342(dist=28122)	ENSG00000233991	Na	Na	Na	Na	Na	Na	Het;A>G	144;4|6	Hom;A>G	422;0|10
N	N	-	2	91807437	91807437	A	G	snp	ncRNA_intronic	 	 	 	 	LOC654342																		rs2059726	0	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	NONE(dist=NONE),LOC654342(dist=17272)	LOC654342	ENSG00000143429,ENSG00000233991	Na	Na	Na	Na	Na	Na	Het;A>G	86;2|4	Hom;A>G	113;0|5
N	N	-	2	91815539	91815539	A	G	snp	ncRNA_intronic	 	 	 	 	LOC654342																		rs1640020	0	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	NONE(dist=NONE),LOC654342(dist=9170)	LOC654342	ENSG00000143429	Na	Na	Na	Na	Na	Na	Het;A>G	117;1|5	Hom;A>G	164;1|8
N	N	-	2	91848102	91848102	A	T	snp	upstream	 	 	 	 	LOC654342																		rs79630977	0	0	0	1	0	0	upstream	upstream	upstream	LOC654342	LOC654342	ENSG00000143429	Na	Na	Na	Na	Na	Na	Het;A>T	341;3|9	Hom;A>T	201;0|6
N	N	-	2	91848104	91848104	T	A	snp	upstream	 	 	 	 	LOC654342																		rs77833039	0	0	0	1	0	0	upstream	upstream	upstream	LOC654342	LOC654342	ENSG00000143429	Na	Na	Na	Na	Na	Na	Het;T>A	341;3|9	Hom;T>A	201;0|4
N	N	-	2	91848113	91848113	T	G	snp	upstream	 	 	 	 	LOC654342																		rs78655424	0	0	0	1	0	0	upstream	upstream	upstream	LOC654342	LOC654342	ENSG00000143429	Na	Na	Na	Na	Na	Na	Het;T>G	173;3|4	Hom;T>G	107;0|3
N	N	-	2	91848114	91848114	G	T	snp	upstream	 	 	 	 	LOC654342																		rs77243749	0	0	0	1	0	0	upstream	upstream	upstream	LOC654342	LOC654342	ENSG00000143429	Na	Na	Na	Na	Na	Na	Het;G>T	173;3|4	Hom;G>T	107;0|3
N	N	-	2	92296776	92296776	T	A	snp	intergenic	 	 	 	 	IGKV1OR2-2																		rs77234483	0	0	0	1	0	0	intergenic	intergenic	intergenic	ACTR3BP2(dist=166280),NONE(dist=NONE)	ACTR3BP2(dist=166280),NONE(dist=NONE)	ENSG00000223816(dist=73750),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>A	162;2|9	Hom;T>A	651;1|20
N	N	-	2	92308063	92308063	A	C	snp	intergenic	 	 	 	 	IGKV1OR2-2																		rs62146435	0	0	0	1	0	0	intergenic	intergenic	intergenic	ACTR3BP2(dist=177567),NONE(dist=NONE)	ACTR3BP2(dist=177567),NONE(dist=NONE)	ENSG00000223816(dist=85037),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>C	128;6|8	Hom;A>C	402;1|19
N	N	-	2	9234117	9234117	A	G	snp	intergenic	 	 	 	 	RPL30P3																		rs10929567	0.826278	0	0	1	0	0	intergenic	intergenic	intergenic	MBOAT2(dist=90241),ASAP2(dist=112777)	MBOAT2(dist=90241),ASAP2(dist=112777)	ENSG00000223640(dist=12261),ENSG00000242136(dist=9452)	Na	Na	Na	Na	Na	Na	Het;A>G	124;4|6	Hom;A>G	333;0|12
N	N	-	2	9496291	9496291	T	C	snp	intronic	 	 	 	 	ASAP2	Asap2	ENSG00000151693	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	chr2:9346894-9545812	This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]	Body Weight; Waist Circumference; Waist-Hip Ratio; Arteries; multiple sclerosis	 		GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASAP2	https://www.uniprot.org/uniprot/O43150		https://www.ncbi.nlm.nih.gov/omim/?term=603817	http://www.informatics.jax.org/searchtool/Search.do?query=ASAP2&submit=Quick%0D%9457ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP2	rs2709591	0.570288	0.6928	0.5601	1	0	0	intronic	intronic	intronic	ASAP2	ASAP2	ENSG00000151693	Na	Na	Na	Na	Na	Na	Het;T>C	2086;110|95	Hom;T>C	4747;2|168
N	N	-	2	9770589	9770589	G	GCGGGGC	indel	UTR5	-8C>GCCCCGC	 	 	 	YWHAQ	Ywhaq	ENSG00000134308	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta	chr2:9724101-9771143	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]	Cholesterol, LDL; breast cancer ; Respiratory Function Tests; Heart Rate	Embryos homozygous for a gene trap allele are developmentally delayed and die by E14 with no specific cardiac defects; however, heterozygotes develop larger myocardial infarctions with increased post-infarction cardiac remodeling while cultured cardiomyocytes are sensitized to proapoptotic stimuli.	Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	GO:0006605;protein targeting;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0021762;substantia nigra development;IEP|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0061024;membrane organization;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0044325;ion channel binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0071889;14-3-3 protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YWHAQ	https://www.uniprot.org/uniprot/P27348		https://www.ncbi.nlm.nih.gov/omim/?term=609009	http://www.informatics.jax.org/searchtool/Search.do?query=YWHAQ&submit=Quick%0D%6954ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAQ	rs200302461	0.107428	0.1644	0.1554	1	0	0	UTR5	UTR5	UTR5	YWHAQ(NM_006826:c.-8C>GCCCCGC)	YWHAQ(uc002qzx.3:c.-8C>GCCCCGC)	ENSG00000134308(ENST00000238081:c.-8C>GCCCCGC,ENST00000381844:c.-8C>GCCCCGC,ENST00000446619:c.-8C>GCCCCGC)	Na	Na	Na	Na	Na	Na	Het;+CGGGGC	936;39|26	Hom;+CGGGGC	1913;0|45
N	N	-	3	100015146	100015146	G	T	snp	intronic	 	 	 	 	TBC1D23	Tbc1d23	ENSG00000036054	TBC1 domain family member 23	chr3:99979844-100044095			Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection.		GO:0032680;regulation of tumor necrosis factor production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0050727;regulation of inflammatory response;IEA	GO:0005794;Golgi apparatus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D23	https://www.uniprot.org/uniprot/Q9NUY8	https://hpo.jax.org/app/browse/search?q=TBC1D23&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D23&submit=Quick%0D%778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D23	rs3772698	0.516573	0.4983	0.5492	1	0	0	intronic	intronic	intronic	TBC1D23	TBC1D23	ENSG00000036054	Na	Na	Na	Na	Na	Na	Het;G>T	2807;111|84	Hom;G>T	7191;0|177
N	N	-	3	100015166	100015166	C	T	snp	intronic	 	 	 	 	TBC1D23	Tbc1d23	ENSG00000036054	TBC1 domain family member 23	chr3:99979844-100044095			Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection.		GO:0032680;regulation of tumor necrosis factor production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0050727;regulation of inflammatory response;IEA	GO:0005794;Golgi apparatus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D23	https://www.uniprot.org/uniprot/Q9NUY8	https://hpo.jax.org/app/browse/search?q=TBC1D23&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D23&submit=Quick%0D%778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D23	rs3772697	0.273163	0.1768	0.2672	1	0	0	intronic	intronic	intronic	TBC1D23	TBC1D23	ENSG00000036054	Na	Na	Na	Na	Na	Na	Het;C>T	1207;86|65	Hom;C>T	6336;0|143
N	N	-	3	100015249	100015250	AT	A	indel	intronic	 	 	 	 	TBC1D23	Tbc1d23	ENSG00000036054	TBC1 domain family member 23	chr3:99979844-100044095			Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection.		GO:0032680;regulation of tumor necrosis factor production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0050727;regulation of inflammatory response;IEA	GO:0005794;Golgi apparatus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D23	https://www.uniprot.org/uniprot/Q9NUY8	https://hpo.jax.org/app/browse/search?q=TBC1D23&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D23&submit=Quick%0D%778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D23	rs397876399	0.283546	0	0	1	0	0	intronic	intronic	intronic	TBC1D23	TBC1D23	ENSG00000036054	Na	Na	Na	Na	Na	Na	Het;-T	96;5|7	Hom;-T	299;1|15
N	N	-	3	100016726	100016726	A	AT	indel	intronic	 	 	 	 	TBC1D23	Tbc1d23	ENSG00000036054	TBC1 domain family member 23	chr3:99979844-100044095			Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection.		GO:0032680;regulation of tumor necrosis factor production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0050727;regulation of inflammatory response;IEA	GO:0005794;Golgi apparatus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D23	https://www.uniprot.org/uniprot/Q9NUY8	https://hpo.jax.org/app/browse/search?q=TBC1D23&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D23&submit=Quick%0D%778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D23	rs3832199	0.288538	0.2117	0.2974	1	0	0	intronic	intronic	intronic	TBC1D23	TBC1D23	ENSG00000036054	Na	Na	Na	Na	Na	Na	Het;+T	476;38|25	Hom;+T	971;1|38
N	N	-	3	100029173	100029173	A	G	snp	intronic	 	 	 	 	TBC1D23	Tbc1d23	ENSG00000036054	TBC1 domain family member 23	chr3:99979844-100044095			Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection.		GO:0032680;regulation of tumor necrosis factor production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0050727;regulation of inflammatory response;IEA	GO:0005794;Golgi apparatus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D23	https://www.uniprot.org/uniprot/Q9NUY8	https://hpo.jax.org/app/browse/search?q=TBC1D23&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D23&submit=Quick%0D%778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D23	rs4928168	0.300319	0	0	1	0	0	intronic	intronic	intronic	TBC1D23	TBC1D23	ENSG00000036054	Na	Na	Na	Na	Na	Na	Het;A>G	182;14|9	Hom;A>G	899;0|35
N	N	-	3	100030628	100030628	A	AT	indel	intronic	 	 	 	 	TBC1D23	Tbc1d23	ENSG00000036054	TBC1 domain family member 23	chr3:99979844-100044095			Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection.		GO:0032680;regulation of tumor necrosis factor production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0050727;regulation of inflammatory response;IEA	GO:0005794;Golgi apparatus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D23	https://www.uniprot.org/uniprot/Q9NUY8	https://hpo.jax.org/app/browse/search?q=TBC1D23&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D23&submit=Quick%0D%778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D23	rs3217495	0.276558	0	0.2552	1	0	0	intronic	intronic	intronic	TBC1D23	TBC1D23	ENSG00000036054	Na	Na	Na	Na	Na	Na	Het;+T	550;19|24	Hom;+T	1198;2|42
N	N	-	3	100034849	100034849	A	T	snp	UTR5	-3084A>T	 	 	 	TBC1D23	Tbc1d23	ENSG00000036054	TBC1 domain family member 23	chr3:99979844-100044095			Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection.		GO:0032680;regulation of tumor necrosis factor production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0050727;regulation of inflammatory response;IEA	GO:0005794;Golgi apparatus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D23	https://www.uniprot.org/uniprot/Q9NUY8	https://hpo.jax.org/app/browse/search?q=TBC1D23&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D23&submit=Quick%0D%778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D23	rs4928169	0.516773	0	0	1	0	0	intronic	UTR5	intronic	TBC1D23	TBC1D23(uc003dtu.4:c.-3084A>T)	ENSG00000036054	Na	Na	Na	Na	Na	Na	Het;A>T	161;16|8	Hom;A>T	713;0|23
N	N	-	3	100073826	100073826	T	G	snp	intronic	 	 	 	 	NIT2	Nit2	ENSG00000114021	nitrilase family member 2	chr3:100053545-100075710			 	Neutrophil degranulation	GO:0006107;oxaloacetate metabolic process;IDA|GO:0006528;asparagine metabolic process;IDA|GO:0006541;glutamine metabolic process;IDA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS	GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0050152;omega-amidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NIT2	https://www.uniprot.org/uniprot/Q9NQR4		https://www.ncbi.nlm.nih.gov/omim/?term=616769	http://www.informatics.jax.org/searchtool/Search.do?query=NIT2&submit=Quick%0D%4425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIT2	rs277646	0.799121	0	0	1	0	0	intronic	intronic	intronic	NIT2	NIT2	ENSG00000114021	Na	Na	Na	Na	Na	Na	Het;T>G	348;4|11	Hom;T>G	162;0|5
N	N	-	3	100086861	100086861	T	C	snp	intronic	 	 	 	 	TOMM70A	 																	rs277640	0.796126	0.7350	0.7062	1	0	0	intronic	intronic	intronic	TOMM70A	TOMM70A	ENSG00000154174	Na	Na	Na	Na	Na	Na	Het;T>C	490;24|22	Hom;T>C	1753;0|60
N	N	-	3	100092526	100092526	A	AG	indel	intronic	 	 	 	 	TOMM70A	 																	rs11384494	0.786542	0.7173	0.5643	1	0	0	intronic	intronic	intronic	TOMM70A	TOMM70A	ENSG00000154174	Na	Na	Na	Na	Na	Na	Het;+G	1033;33|28	Hom;+G	1600;0|38
N	N	-	3	100092528	100092528	T	TGCA	indel	intronic	 	 	 	 	TOMM70A	 																	Na	0.780152	0.0265	0.5621	1	0	0	intronic	intronic	intronic	TOMM70A	TOMM70A	ENSG00000154174	Na	Na	Na	Na	Na	Na	Het;+GCA	1033;35|28	Hom;+GCA	1650;0|36
N	N	-	3	10015437	10015437	T	C	snp	intronic	 	 	 	 	EMC3	Emc3	ENSG00000125037	ER membrane protein complex subunit 3	chr3:10004221-10052800			Mice homozygous for an inducible conditional allele exhibit thin retinal outer nuclear layer with retinal degeneration and reduced Rho trafficking to the outer segment.		GO:0008150;biological_process;ND|GO:0034975;protein folding in endoplasmic reticulum;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0072546;ER membrane protein complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/EMC3	https://www.uniprot.org/uniprot/Q9P0I2			http://www.informatics.jax.org/searchtool/Search.do?query=EMC3&submit=Quick%0D%5735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EMC3	rs3732967	0.241813	0.2392	0.2040	1	0	0	intronic	intronic	intronic	EMC3	EMC3	ENSG00000125037	Na	Na	Na	Na	Na	Na	Het;T>C	896;45|41	Hom;T>C	2277;0|78
N	N	-	3	10016305	10016305	C	T	snp	intronic	 	 	 	 	EMC3	Emc3	ENSG00000125037	ER membrane protein complex subunit 3	chr3:10004221-10052800			Mice homozygous for an inducible conditional allele exhibit thin retinal outer nuclear layer with retinal degeneration and reduced Rho trafficking to the outer segment.		GO:0008150;biological_process;ND|GO:0034975;protein folding in endoplasmic reticulum;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0072546;ER membrane protein complex;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/EMC3	https://www.uniprot.org/uniprot/Q9P0I2			http://www.informatics.jax.org/searchtool/Search.do?query=EMC3&submit=Quick%0D%5735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EMC3	rs35694837	0.241214	0	0	1	0	0	intronic	intronic	intronic	EMC3	EMC3	ENSG00000125037	Na	Na	Na	Na	Na	Na	Het;C>T	31;2|2	Hom;C>T	199;0|7
N	N	-	3	10028988	10028988	C	A	snp	ncRNA_intronic	 	 	 	 	EMC3-AS1																		rs28366039	0.182308	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	EMC3-AS1	AK125558,AX747493	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;C>A	89;9|6	Hom;C>A	671;0|28
N	N	-	3	10042113	10042113	A	G	snp	ncRNA_intronic	 	 	 	 	EMC3-AS1																		rs17081288	0.221046	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	EMC3-AS1	AK125558,AX747493	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;A>G	100;11|6	Hom;A>G	71;0|4
N	N	-	3	10044457	10044457	C	T	snp	synonymous SNV	C7T	L3L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AK125558																		rs55962400	0.161542	0	0.2148	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	EMC3-AS1	AK125558,AX747493	ENSG00000180385	Na	synonymous SNV	Na	Na	AX747493:uc003buq.1:exon2:c.C7T:p.L3L,AK125558:uc003bup.1:exon4:c.C7T:p.L3L,	Na	Het;C>T	1405;88|68	Hom;C>T	4624;0|170
N	N	-	3	10044626	10044626	T	C	snp	nonsynonymous SNV	T176C	M59T	hydrophobic,neutral	polar,hydrophilic,neutral	AK125558																		rs13088350	0.243411	0	0.2231	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	EMC3-AS1	AK125558,AX747493	ENSG00000180385	Na	nonsynonymous SNV	Na	Na	AX747493:uc003buq.1:exon2:c.T176C:p.M59T,AK125558:uc003bup.1:exon4:c.T176C:p.M59T,	Na	Het;T>C	1221;82|60	Hom;T>C	3012;4|105
N	N	-	3	10045030	10045030	C	A	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs13066757	0.212859	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	AK125558(uc003bup.1:c.*52C>A),AX747493(uc003buq.1:c.*52C>A)	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;C>A	995;56|48	Hom;C>A	2286;1|86
N	N	-	3	10045703	10045703	T	C	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs6786636	0.386981	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	AK125558(uc003bup.1:c.*725T>C),AX747493(uc003buq.1:c.*725T>C)	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;T>C	1655;84|80	Hom;T>C	4368;1|161
N	N	-	3	10045734	10045734	T	C	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs17050704	0.35623	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	AK125558(uc003bup.1:c.*756T>C),AX747493(uc003buq.1:c.*756T>C)	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;T>C	1422;58|65	Hom;T>C	3639;0|134
N	N	-	3	10046165	10046165	C	T	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs34883592	0.355431	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	AK125558(uc003bup.1:c.*1187C>T),AX747493(uc003buq.1:c.*1187C>T)	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;C>T	877;111|52	Hom;C>T	2998;0|108
N	N	-	3	10046398	10046398	G	C	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs17050705	0.355431	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	AK125558(uc003bup.1:c.*1420G>C),AX747493(uc003buq.1:c.*1420G>C)	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;G>C	2305;146|107	Hom;G>C	6937;0|248
N	N	-	3	10046703	10046703	C	T	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs2272120	0.355431	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	AK125558(uc003bup.1:c.*1725C>T),AX747493(uc003buq.1:c.*1725C>T)	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;C>T	2039;142|104	Hom;C>T	4706;3|182
N	N	-	3	10047246	10047246	C	T	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs13079240	0.355431	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_intronic	EMC3-AS1	AK125558,AX747493,LOC401052	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;C>T	873;47|42	Hom;C>T	2158;0|75
N	N	-	3	10047680	10047680	A	G	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs2272121	0.355431	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_intronic	EMC3-AS1	AK125558,AX747493,LOC401052	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;A>G	1383;79|66	Hom;A>G	3974;2|144
N	N	-	3	10047975	10047975	C	G	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs2272122	0.35623	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_intronic	EMC3-AS1	LOC401052	ENSG00000180385	Na	Na	Na	Na	Na	Na	Het;C>G	636;36|29	Hom;C>G	1890;0|64
N	N	-	3	10048502	10048502	C	T	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs7627372	0.355232	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	LOC401052(uc003bur.1:c.*526G>A)	ENSG00000180385,ENSG00000206567	Na	Na	Na	Na	Na	Na	Het;C>T	702;35|34	Hom;C>T	1418;1|54
N	N	-	3	10048601	10048601	A	G	snp	ncRNA_exonic	 	 	 	 	EMC3-AS1																		rs7638846	0.325479	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EMC3-AS1	LOC401052(uc003bur.1:c.*427T>C)	ENSG00000180385,ENSG00000206567	Na	Na	Na	Na	Na	Na	Het;A>G	921;52|46	Hom;A>G	2086;4|77
N	N	-	3	10048839	10048839	C	G	snp	ncRNA_exonic	 	 	 	 	AC022007.1																		rs3732964	0.35623	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	LOC401052(NM_001008737:c.*189G>C)	LOC401052(uc003bur.1:c.*189G>C)	ENSG00000206567	Na	Na	Na	Na	Na	Na	Het;C>G	32;2|2	Hom;C>G	117;0|4
N	N	-	3	10048885	10048885	G	T	snp	ncRNA_exonic	 	 	 	 	AC022007.1																		rs3732963	0.355431	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	LOC401052(NM_001008737:c.*143C>A)	LOC401052(uc003bur.1:c.*143C>A)	ENSG00000206567	Na	Na	Na	Na	Na	Na	Het;G>T	33;4|3	Hom;G>T	187;0|6
N	N	-	3	10048951	10048951	T	C	snp	ncRNA_exonic	 	 	 	 	AC022007.1																		rs3732962	0.355431	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	LOC401052(NM_001008737:c.*77A>G)	LOC401052(uc003bur.1:c.*77A>G)	ENSG00000206567	Na	Na	Na	Na	Na	Na	Het;T>C	214;9|9	Hom;T>C	495;0|14
N	N	-	3	10049287	10049287	T	C	snp	nonsynonymous SNV	A98G	H33R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LOC401052																		rs2272118	0.35623	0.3724	0.2706	1	0	0	exonic	exonic	ncRNA_exonic	LOC401052	LOC401052	ENSG00000206567	nonsynonymous SNV	nonsynonymous SNV	Na	LOC401052:NM_001008737:exon4:c.A98G:p.H33R,	LOC401052:uc003bur.1:exon4:c.A98G:p.H33R,	Na	Het;T>C	1125;37|57	Hom;T>C	2677;2|106
N	N	-	3	10049352	10049352	A	G	snp	ncRNA_intronic	 	 	 	 	AC022007.1																		rs2272119	0.382388	0.3955	0.2776	1	0	0	intronic	intronic	ncRNA_intronic	LOC401052	LOC401052	ENSG00000206567	Na	Na	Na	Na	Na	Na	Het;A>G	582;26|30	Hom;A>G	1640;0|58
N	N	-	3	100565031	100565031	G	C	snp	intronic	 	 	 	 	ABI3BP	Abi3bp	ENSG00000154175	ABI family member 3 binding protein	chr3:100468000-100712359		mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose	Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis.		GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP	https://www.uniprot.org/uniprot/Q7Z7G0		https://www.ncbi.nlm.nih.gov/omim/?term=606279	http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP	rs6774830	0.655152	0	0	1	0	0	intronic	intronic	intronic	ABI3BP	ABI3BP	ENSG00000154175	Na	Na	Na	Na	Na	Na	Het;G>C	262;7|8	Hom;G>C	627;1|17
N	N	-	3	100585694	100585694	C	G	snp	intronic	 	 	 	 	ABI3BP	Abi3bp	ENSG00000154175	ABI family member 3 binding protein	chr3:100468000-100712359		mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose	Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis.		GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA	GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP	https://www.uniprot.org/uniprot/Q7Z7G0		https://www.ncbi.nlm.nih.gov/omim/?term=606279	http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP	rs3732899	0.265375	0.2790	0.2997	1	0	0	intronic	intronic	intronic	ABI3BP	ABI3BP	ENSG00000154175	Na	Na	Na	Na	Na	Na	Het;C>G	118;5|5	Hom;C>G	493;0|19
N	N	-	3	10059658	10059658	G	T	snp	ncRNA_exonic	 	 	 	 	CIDECP																		rs9862221	0.228634	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CIDECP	CIDECP,FW339974	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;G>T	2339;85|106	Hom;G>T	7306;1|202
N	N	-	3	10065144	10065144	G	A	snp	ncRNA_exonic	 	 	 	 	CIDECP																		rs6775725	0.211262	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	CIDECP	CIDECP	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;G>A	255;9|10	Hom;G>A	434;0|13
N	N	-	3	10065426	10065426	C	T	snp	ncRNA_exonic	 	 	 	 	CIDECP																		rs6803517	0.208067	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CIDECP	CIDECP	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;C>T	2474;133|123	Hom;C>T	5972;0|225
N	N	-	3	10065528	10065528	G	A	snp	ncRNA_intronic	 	 	 	 	CIDECP																		rs9834980	0.208067	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CIDECP	CIDECP	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;G>A	150;25|8	Hom;G>A	570;0|18
N	N	-	3	10067548	10067548	G	C	snp	ncRNA_intronic	 	 	 	 	CIDECP																		rs9845756	0.211262	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CIDECP	CIDECP	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;G>C	35;5|2	Hom;G>C	175;0|5
N	N	-	3	10067651	10067651	C	T	snp	ncRNA_intronic	 	 	 	 	CIDECP																		rs2075310	0.358227	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CIDECP	CIDECP	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;C>T	601;23|26	Hom;C>T	1484;0|47
N	N	-	3	10067794	10067794	A	G	snp	ncRNA_exonic	 	 	 	 	CIDECP																		rs35993975	0.128994	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CIDECP	CIDECP	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;A>G	2885;102|78	Hom;A>G	8657;0|193
N	N	-	3	10067797	10067797	T	C	snp	ncRNA_exonic	 	 	 	 	CIDECP																		rs33917318	0.211262	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	CIDECP	CIDECP	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;T>C	2845;101|75	Hom;T>C	8657;0|193
N	N	-	3	10067972	10067972	C	T	snp	ncRNA_exonic	 	 	 	 	CIDECP																		rs17032268	0.207268	0	0	1	0	0	upstream	upstream	ncRNA_exonic	CIDECP,FANCD2	CIDECP,FANCD2	ENSG00000186162	Na	Na	Na	Na	Na	Na	Het;C>T	333;6|12	Hom;C>T	470;0|15
N	N	-	3	10076842	10076844	CTT	C	indel	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs397897610	0.211462	0.2553	0.2080	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;-TT	2719;75|92	Hom;-TT	5179;0|147
N	N	-	3	10076975	10076975	A	C	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs17032276	0.18111	0.2098	0	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;A>C	1405;77|71	Hom;A>C	4016;2|143
N	N	-	3	10077023	10077023	T	C	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs17032277	0.182109	0	0	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;T>C	622;28|25	Hom;T>C	1894;0|52
N	N	-	3	10077955	10077955	A	G	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs17032278	0.182109	0.2185	0.1662	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;A>G	963;45|46	Hom;A>G	2111;2|78
N	N	-	3	10081545	10081545	G	C	snp	synonymous SNV	G711C	L237L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs17032283	0.182109	0.2170	0.1659	1	0	0	intronic	exonic	exonic	FANCD2	FANCD2	ENSG00000144554	Na	synonymous SNV	unknown	Na	FANCD2:uc003buv.3:exon9:c.G711C:p.L237L,	UNKNOWN	Het;G>C	538;25|21	Hom;G>C	1668;0|57
N	N	-	3	10084224	10084224	C	T	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs9879080	0.210663	0.2527	0.1743	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;C>T	751;60|37	Hom;C>T	3042;0|114
N	N	-	3	10085130	10085130	C	G	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs9809061	0.211661	0.2431	0.1758	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;C>G	332;24|13	Hom;C>G	661;0|24
N	N	-	3	10088522	10088522	G	A	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs9825871	0.212061	0	0	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;G>A	119;2|5	Hom;G>A	370;0|9
N	N	-	3	10089470	10089470	T	A	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs7649243	0.179113	0	0	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;T>A	65;6|4	Hom;T>A	643;1|19
N	N	-	3	10104034	10104034	C	T	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs6804967	0.208466	0	0	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;C>T	293;4|10	Hom;C>T	476;0|15
N	N	-	3	10106532	10106532	C	T	snp	nonsynonymous SNV	C2141T	P714L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs3864017	0	0	0.1545	0.08	1	13	exonic	exonic	exonic	FANCD2	FANCD2	ENSG00000144554	nonsynonymous SNV	nonsynonymous SNV	unknown	FANCD2:NM_033084:exon23:c.C2141T:p.P714L,FANCD2:NM_001018115:exon23:c.C2141T:p.P714L,	FANCD2:uc003buw.3:exon23:c.C2141T:p.P714L,FANCD2:uc003bux.1:exon23:c.C2141T:p.P714L,FANCD2:uc003buy.1:exon23:c.C2141T:p.P714L,	UNKNOWN	Het;C>T	1061;97|55	Hom;C>T	2284;2|86
N	N	-	3	10107520	10107520	G	T	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs34608006	0.175319	0.2117	0.1729	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;G>T	976;45|44	Hom;G>T	1884;0|71
N	N	-	3	10114802	10114802	T	C	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs9824585	0.219848	0	0	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;T>C	77;4|3	Hom;T>C	135;0|4
N	N	-	3	10119917	10119917	T	C	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs6805869	0.211462	0.2523	0.1750	1	0	0	intronic	intronic	intronic	FANCD2	FANCD2	ENSG00000144554	Na	Na	Na	Na	Na	Na	Het;T>C	219;18|11	Hom;T>C	1236;0|42
N	N	-	3	10133949	10133949	A	G	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs9811771	0.254193	0.2754	0.1918	1	0	0	intronic	intronic	intronic	FANCD2,FANCD2OS	FANCD2,FANCD2OS	ENSG00000144554,ENSG00000163705	Na	Na	Na	Na	Na	Na	Het;A>G	520;27|24	Hom;A>G	1698;0|61
N	N	-	3	10136150	10136150	C	T	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs7610821	0.241214	0	0	1	0	0	intronic	intronic	intronic	FANCD2,FANCD2OS	FANCD2,FANCD2OS	ENSG00000144554,ENSG00000163705	Na	Na	Na	Na	Na	Na	Het;C>T	242;2|9	Hom;C>T	277;0|9
N	N	-	3	10138069	10138069	T	G	snp	synonymous SNV	T4098G	L1366L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs2272125	0.242212	0.2686	0.1868	1	0	0	exonic	exonic	exonic	FANCD2	FANCD2	ENSG00000144554	synonymous SNV	synonymous SNV	unknown	FANCD2:NM_033084:exon42:c.T4098G:p.L1366L,FANCD2:NM_001018115:exon42:c.T4098G:p.L1366L,	FANCD2:uc003buw.3:exon42:c.T4098G:p.L1366L,FANCD2:uc003bux.1:exon42:c.T4098G:p.L1366L,FANCD2:uc003buy.1:exon42:c.T4098G:p.L1366L,	UNKNOWN	Het;T>G	1926;68|85	Hom;T>G	4977;0|176
N	N	-	3	10138189	10138189	T	C	snp	intronic	 	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs2272124	0.241813	0.2683	0.1869	1	0	0	intronic	intronic	intronic	FANCD2,FANCD2OS	FANCD2,FANCD2OS	ENSG00000144554,ENSG00000163705	Na	Na	Na	Na	Na	Na	Het;T>C	1108;59|47	Hom;T>C	3283;0|112
N	N	-	3	10140671	10140671	G	A	snp	UTR3	*37G>A	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs7626117	0.345248	0.3733	0.2285	1	0	0	UTR3	UTR3	UTR3	FANCD2(NM_033084:c.*37G>A)	FANCD2(uc003buw.3:c.*37G>A)	ENSG00000144554(ENST00000287647:c.*37G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1421;75|66	Hom;G>A	3672;0|130
N	N	-	3	10140696	10140696	A	G	snp	UTR3	*62A>G	 	 	 	FANCD2	Fancd2	ENSG00000144554	Fanconi anemia complementation group D2	chr3:10068098-10143614	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer	Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA	GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCD2	https://www.uniprot.org/uniprot/Q9BXW9	https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613984	http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2	rs7647987	0.241214	0	0	1	0	0	UTR3	UTR3	UTR3	FANCD2(NM_033084:c.*62A>G)	FANCD2(uc003buw.3:c.*62A>G)	ENSG00000144554(ENST00000287647:c.*62A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1235;62|51	Hom;A>G	3214;0|109
N	N	-	3	10167264	10167264	G	C	snp	intronic	 	 	 	 	BRK1	Brk1	ENSG00000254999	BRICK1, SCAR/WAVE actin nucleating complex subunit	chr3:10157276-10168874		Adrenal Gland Neoplasms|Carcinoma, Renal Cell|Cerebellar Neoplasms|Hemangioblastoma|Kidney Neoplasms|Pheochromocytoma|Retinal Neoplasms|von Hippel-Lindau Disease	Mice homozygous for disruptions in this gene display partial embryonic lethality before implantation with abnormalities in the actin network and failure of cultured embryos to hatch from the zona pellucida.	RHO GTPases Activate WASPs and WAVEs	GO:0001701;in utero embryonic development;IEA|GO:0007015;actin filament organization;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010592;positive regulation of lamellipodium assembly;IMP|GO:0016601;Rac protein signal transduction;IDA|GO:0030036;actin cytoskeleton organization;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048870;cell motility;IEA|GO:0070207;protein homotrimerization;IDA|GO:2000601;positive regulation of Arp2/3 complex-mediated actin nucleation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0031209;SCAR complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA|GO:0048365;Rac GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRK1			https://www.ncbi.nlm.nih.gov/omim/?term=611183	http://www.informatics.jax.org/searchtool/Search.do?query=BRK1&submit=Quick%0D%20101ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRK1	rs67667957	0.206669	0.2102	0.1907	1	0	0	intronic	intronic	intronic	BRK1	BRK1	ENSG00000254999	Na	Na	Na	Na	Na	Na	Het;G>C	108;11|7	Hom;G>C	506;0|18
N	N	-	3	10219729	10219729	A	G	snp	intronic	 	 	 	 	IRAK2	Irak2	ENSG00000134070	interleukin 1 receptor associated kinase 2	chr3:10206549-10285427	IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]	HIV; Celiac Disease|; longevity; Bone Mineral Density; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock.	MyD88 cascade initiated on plasma membrane	GO:0000187;activation of MAPK activity;TAS|GO:0001959;regulation of cytokine-mediated signaling pathway;IMP|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0002756;MyD88-independent toll-like receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007254;JNK cascade;TAS|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0034162;toll-like receptor 9 signaling pathway;TAS|GO:0035556;intracellular signal transduction;IBA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0070498;interleukin-1-mediated signaling pathway;IMP|GO:0070555;response to interleukin-1;IMP	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IRAK2	https://www.uniprot.org/uniprot/O43187		https://www.ncbi.nlm.nih.gov/omim/?term=603304	http://www.informatics.jax.org/searchtool/Search.do?query=IRAK2&submit=Quick%0D%6908ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRAK2	rs1681663	0.582668	0.7340	0.7007	1	0	0	intronic	intronic	intronic	IRAK2	IRAK2	ENSG00000134070	Na	Na	Na	Na	Na	Na	Het;A>G	359;10|17	Hom;A>G	856;0|31
N	N	-	3	10242243	10242243	G	A	snp	intronic	 	 	 	 	IRAK2	Irak2	ENSG00000134070	interleukin 1 receptor associated kinase 2	chr3:10206549-10285427	IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]	HIV; Celiac Disease|; longevity; Bone Mineral Density; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock.	MyD88 cascade initiated on plasma membrane	GO:0000187;activation of MAPK activity;TAS|GO:0001959;regulation of cytokine-mediated signaling pathway;IMP|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0002756;MyD88-independent toll-like receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007254;JNK cascade;TAS|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0034162;toll-like receptor 9 signaling pathway;TAS|GO:0035556;intracellular signal transduction;IBA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0070498;interleukin-1-mediated signaling pathway;IMP|GO:0070555;response to interleukin-1;IMP	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IRAK2	https://www.uniprot.org/uniprot/O43187		https://www.ncbi.nlm.nih.gov/omim/?term=603304	http://www.informatics.jax.org/searchtool/Search.do?query=IRAK2&submit=Quick%0D%6908ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRAK2	rs263411	0.505192	0.5522	0.5044	1	0	0	intronic	intronic	intronic	IRAK2	IRAK2	ENSG00000134070	Na	Na	Na	Na	Na	Na	Het;G>A	442;9|21	Hom;G>A	1024;2|36
N	N	-	3	102576689	102576689	A	T	snp	intergenic	 	 	 	 	RNU6-461P																		rs13095113	0.613818	0	0	1	0	0	intergenic	intergenic	intergenic	ZPLD1(dist=378004),MIR548AB(dist=666188)	ZPLD1(dist=378004),DD413615(dist=93007)	ENSG00000201065(dist=102675),ENSG00000201922(dist=302115)	Na	Na	Na	Na	Na	Na	Het;A>T	47;2|3	Hom;A>T	71;0|4
N	N	-	3	10261294	10261294	A	G	snp	intronic	 	 	 	 	IRAK2	Irak2	ENSG00000134070	interleukin 1 receptor associated kinase 2	chr3:10206549-10285427	IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]	HIV; Celiac Disease|; longevity; Bone Mineral Density; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock.	MyD88 cascade initiated on plasma membrane	GO:0000187;activation of MAPK activity;TAS|GO:0001959;regulation of cytokine-mediated signaling pathway;IMP|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0002756;MyD88-independent toll-like receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007254;JNK cascade;TAS|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0034162;toll-like receptor 9 signaling pathway;TAS|GO:0035556;intracellular signal transduction;IBA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0070498;interleukin-1-mediated signaling pathway;IMP|GO:0070555;response to interleukin-1;IMP	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IRAK2	https://www.uniprot.org/uniprot/O43187		https://www.ncbi.nlm.nih.gov/omim/?term=603304	http://www.informatics.jax.org/searchtool/Search.do?query=IRAK2&submit=Quick%0D%6908ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRAK2	rs3895947	0.5625	0	0	1	0	0	intronic	intronic	intronic	IRAK2	IRAK2	ENSG00000134070	Na	Na	Na	Na	Na	Na	Het;A>G	60;22|5	Hom;A>G	644;0|24
N	N	-	3	103146508	103146508	T	C	snp	intergenic	 	 	 	 	NDUFA4P2																		rs6779909	0.557109	0	0	1	0	0	intergenic	intergenic	intergenic	ZPLD1(dist=947823),MIR548AB(dist=96369)	DD413615(dist=476793),BC070396(dist=499531)	ENSG00000236691(dist=186434),ENSG00000265328(dist=96369)	Na	Na	Na	Na	Na	Na	Het;T>C	157;9|9	Hom;T>C	632;0|25
N	N	-	3	10320865	10320865	A	G	snp	intronic	 	 	 	 	TATDN2	Tatdn2	ENSG00000157014	TatD DNase domain containing 2	chr3:10289707-10322902		longevity; Chronic renal failure|Kidney Failure, Chronic	 	XBP1(S) activates chaperone genes	GO:0006259;DNA metabolic process;IEA|GO:0006308;DNA catabolic process;IBA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0004518;nuclease activity;IEA|GO:0004536;deoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0016888;endodeoxyribonuclease activity, producing 5'-phosphomonoesters;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TATDN2				http://www.informatics.jax.org/searchtool/Search.do?query=TATDN2&submit=Quick%0D%10044ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TATDN2	rs2075355	0.676717	0.6312	0	1	0	0	intronic	intronic	intronic	TATDN2	TATDN2	ENSG00000157014,ENSG00000272410	Na	Na	Na	Na	Na	Na	Het;A>G	113;4|5	Hom;A>G	254;0|7
N	N	-	3	10346996	10346996	T	TA	indel	intronic	 	 	 	 	SEC13	Sec13	ENSG00000157020	SEC13 homolog, nuclear pore and COPII coat complex component	chr3:10334815-10362862	The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]	Chronic renal failure|Kidney Failure, Chronic	 	Antigen Presentation: Folding, assembly and peptide loading of class I MHC	GO:0002474;antigen processing and presentation of peptide antigen via MHC class I;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0048208;COPII vesicle coating;TAS|GO:0051028;mRNA transport;IEA	GO:0000139;Golgi membrane;IEA|GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IEA|GO:0031080;nuclear pore outer ring;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IEA|GO:0061700;GATOR2 complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEC13			https://www.ncbi.nlm.nih.gov/omim/?term=600152	http://www.informatics.jax.org/searchtool/Search.do?query=SEC13&submit=Quick%0D%10046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC13	rs200033116	0	0	0	1	0	0	intronic	intronic	intronic	SEC13	SEC13	ENSG00000157020	Na	Na	Na	Na	Na	Na	Het;+A	104;4|6	Hom;+A	364;0|14
N	N	-	3	10382111	10382111	T	C	snp	intronic	 	 	 	 	ATP2B2	Atp2b2	ENSG00000157087	ATPase plasma membrane Ca2+ transporting 2	chr3:10365707-10749716	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; schizophrenia; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Erythrocytes; Tunica Media; serum metabolites; Tobacco Use Disorder; Inflammatory Bowel Diseases; Phenylalanine	Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti.  Heterozygotes exhibit appreciable age-dependent hearing loss.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030182;neuron differentiation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030165;PDZ domain binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2B2			https://www.ncbi.nlm.nih.gov/omim/?term=108733	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B2&submit=Quick%0D%10052ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B2	rs171337	0.758986	0	0	1	0	0	intronic	intronic	intronic	ATP2B2	ATP2B2	ENSG00000157087	Na	Na	Na	Na	Na	Na	Het;T>C	554;32|20	Hom;T>C	1775;0|54
N	N	-	3	10382148	10382148	G	A	snp	intronic	 	 	 	 	ATP2B2	Atp2b2	ENSG00000157087	ATPase plasma membrane Ca2+ transporting 2	chr3:10365707-10749716	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; schizophrenia; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Erythrocytes; Tunica Media; serum metabolites; Tobacco Use Disorder; Inflammatory Bowel Diseases; Phenylalanine	Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti.  Heterozygotes exhibit appreciable age-dependent hearing loss.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030182;neuron differentiation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030165;PDZ domain binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2B2			https://www.ncbi.nlm.nih.gov/omim/?term=108733	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B2&submit=Quick%0D%10052ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B2	rs154242	0.758586	0.6148	0.6624	1	0	0	intronic	intronic	intronic	ATP2B2	ATP2B2	ENSG00000157087	Na	Na	Na	Na	Na	Na	Het;G>A	409;39|22	Hom;G>A	1921;0|66
N	N	-	3	10400643	10400643	G	A	snp	intronic	 	 	 	 	ATP2B2	Atp2b2	ENSG00000157087	ATPase plasma membrane Ca2+ transporting 2	chr3:10365707-10749716	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; schizophrenia; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Erythrocytes; Tunica Media; serum metabolites; Tobacco Use Disorder; Inflammatory Bowel Diseases; Phenylalanine	Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti.  Heterozygotes exhibit appreciable age-dependent hearing loss.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030182;neuron differentiation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030165;PDZ domain binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2B2			https://www.ncbi.nlm.nih.gov/omim/?term=108733	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B2&submit=Quick%0D%10052ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B2	rs28113	0.677316	0.4982	0.6455	1	0	0	intronic	intronic	intronic	ATP2B2	ATP2B2	ENSG00000157087	Na	Na	Na	Na	Na	Na	Het;G>A	471;47|25	Hom;G>A	1526;0|52
N	N	-	3	104096242	104096242	G	A	snp	intergenic	 	 	 	 	RAP1BP2																		rs62262505	0.0688898	0	0	1	0	0	intergenic	intergenic	intergenic	MIR548A3(dist=150137),ALCAM(dist=989315)	MIR548A3(dist=150137),ALCAM(dist=989315)	ENSG00000214405(dist=313816),ENSG00000243635(dist=125302)	Na	Na	Na	Na	Na	Na	Het;G>A	112;7|7	Hom;G>A	187;0|9
N	N	-	3	10420087	10420087	T	C	snp	synonymous SNV	A915G	Q305Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ATP2B2	Atp2b2	ENSG00000157087	ATPase plasma membrane Ca2+ transporting 2	chr3:10365707-10749716	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; schizophrenia; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Erythrocytes; Tunica Media; serum metabolites; Tobacco Use Disorder; Inflammatory Bowel Diseases; Phenylalanine	Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti.  Heterozygotes exhibit appreciable age-dependent hearing loss.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030182;neuron differentiation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030165;PDZ domain binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2B2			https://www.ncbi.nlm.nih.gov/omim/?term=108733	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B2&submit=Quick%0D%10052ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B2	rs751122	0.493211	0.3610	0.4092	1	0	0	exonic	exonic	exonic	ATP2B2	ATP2B2	ENSG00000157087	synonymous SNV	synonymous SNV	unknown	ATP2B2:NM_001001331:exon10:c.A1050G:p.Q350Q,ATP2B2:NM_001683:exon7:c.A915G:p.Q305Q,	ATP2B2:uc003bvw.3:exon9:c.A915G:p.Q305Q,ATP2B2:uc010hdo.3:exon6:c.A165G:p.Q55Q,ATP2B2:uc003bvv.3:exon7:c.A915G:p.Q305Q,ATP2B2:uc003bvt.3:exon10:c.A1050G:p.Q350Q,	UNKNOWN	Het;T>C	2386;100|113	Hom;T>C	4713;0|169
N	N	-	3	10427190	10427190	C	T	snp	intronic	 	 	 	 	ATP2B2	Atp2b2	ENSG00000157087	ATPase plasma membrane Ca2+ transporting 2	chr3:10365707-10749716	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Cholesterol; Stroke; schizophrenia; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Erythrocytes; Tunica Media; serum metabolites; Tobacco Use Disorder; Inflammatory Bowel Diseases; Phenylalanine	Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti.  Heterozygotes exhibit appreciable age-dependent hearing loss.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030182;neuron differentiation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030165;PDZ domain binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP2B2			https://www.ncbi.nlm.nih.gov/omim/?term=108733	http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B2&submit=Quick%0D%10052ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B2	rs725027	0.658546	0	0	1	0	0	intronic	intronic	intronic	ATP2B2	ATP2B2	ENSG00000157087	Na	Na	Na	Na	Na	Na	Het;C>T	109;2|5	Hom;C>T	106;0|4
N	N	-	3	105495098	105495102	CCAAT	C	indel	intronic	 	 	 	 	CBLB	Cblb	ENSG00000114423	Cbl proto-oncogene B	chr3:105374305-105588396		Multiple Sclerosis; Marijuana Abuse; multiple sclerosis; Hip; diabetes, type 1; Sleep; Creatinine; Basophils; Graves' disease	Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006508;proteolysis;IBA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IBA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;IBA|GO:0016567;protein ubiquitination;IEA|GO:0023051;regulation of signaling;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0045121;membrane raft;IBA	GO:0001784;phosphotyrosine binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0016740;transferase activity;IEA|GO:0017124;SH3 domain binding;IBA|GO:0030971;receptor tyrosine kinase binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CBLB	https://www.uniprot.org/uniprot/Q13191		https://www.ncbi.nlm.nih.gov/omim/?term=604491	http://www.informatics.jax.org/searchtool/Search.do?query=CBLB&submit=Quick%0D%4464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBLB	rs10546081	0.572684	0	0	1	0	0	intronic	intronic	intronic	CBLB	CBLB	ENSG00000114423	Na	Na	Na	Na	Na	Na	Het;-CAAT	41;2|2	Hom;-CAAT	137;0|4
N	N	-	3	105588069	105588069	G	A	snp	UTR5	-1648C>T	 	 	 	CBLB	Cblb	ENSG00000114423	Cbl proto-oncogene B	chr3:105374305-105588396		Multiple Sclerosis; Marijuana Abuse; multiple sclerosis; Hip; diabetes, type 1; Sleep; Creatinine; Basophils; Graves' disease	Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006508;proteolysis;IBA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IBA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;IBA|GO:0016567;protein ubiquitination;IEA|GO:0023051;regulation of signaling;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0045121;membrane raft;IBA	GO:0001784;phosphotyrosine binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0016740;transferase activity;IEA|GO:0017124;SH3 domain binding;IBA|GO:0030971;receptor tyrosine kinase binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CBLB	https://www.uniprot.org/uniprot/Q13191		https://www.ncbi.nlm.nih.gov/omim/?term=604491	http://www.informatics.jax.org/searchtool/Search.do?query=CBLB&submit=Quick%0D%4464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBLB	rs11711088	0.559904	0	0	1	0	0	upstream	intronic	UTR5	CBLB	CBLB	ENSG00000114423(ENST00000447441:c.-1648C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	244;5|9	Hom;G>A	660;0|21
N	N	-	3	10667729	10667729	G	GA	indel	ncRNA_exonic	 	 	 	 	ATP2B2-IT2																		rs34156649	0.262979	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	ATP2B2-IT2	ATP2B2	ENSG00000224771	Na	Na	Na	Na	Na	Na	Het;+A	781;36|36	Hom;+A	2646;6|97
N	N	-	3	10668247	10668251	GGGAT	G	indel	ncRNA_intronic	 	 	 	 	ATP2B2-IT2																		rs551883775	0.458466	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ATP2B2-IT2	ATP2B2	ENSG00000224771	Na	Na	Na	Na	Na	Na	Het;-GGAT	246;4|7	Hom;-GGAT	530;0|13
N	N	-	3	10668550	10668564	GACACACACACACAC	G	indel	upstream	 	 	 	 	ATP2B2-IT2																		rs762242574	0	0	0	1	0	0	upstream	intronic	intronic	ATP2B2-IT2	ATP2B2	ENSG00000157087	Na	Na	Na	Na	Na	Na	Het;-ACACACACACACAC	101;2|4	Hom;-ACACACACACACAC	344;0|9
N	N	-	3	106825268	106825268	A	AC	indel	ncRNA_exonic	 	 	 	 	AC074043.1																		rs58705928	0.998203	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	CBLB(dist=1237381),LINC00882(dist=3369)	LINC00882	ENSG00000239455	Na	Na	Na	Na	Na	Na	Het;+C	442;2|13	Hom;+C	447;0|12
N	N	-	3	108072425	108072425	C	T	snp	synonymous SNV	C216T	H72H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	HHLA2	 	ENSG00000114455	HERV-H LTR-associating 2	chr3:108015376-108097132	This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Insulin; Stroke; Insulin Resistance	 		GO:0001819;positive regulation of cytokine production;IDA|GO:0031295;T cell costimulation;IDA|GO:0042104;positive regulation of activated T cell proliferation;IDA	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HHLA2	https://www.uniprot.org/uniprot/Q9UM44		https://www.ncbi.nlm.nih.gov/omim/?term=604371	http://www.informatics.jax.org/searchtool/Search.do?query=HHLA2&submit=Quick%0D%4468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HHLA2	rs2124741	0.153554	0.0265	0.1010	1	0	0	exonic	exonic	exonic	HHLA2	HHLA2	ENSG00000114455	synonymous SNV	synonymous SNV	unknown	HHLA2:NM_001282557:exon4:c.C216T:p.H72H,HHLA2:NM_001282556:exon4:c.C216T:p.H72H,HHLA2:NM_001282558:exon5:c.C216T:p.H72H,HHLA2:NM_007072:exon4:c.C216T:p.H72H,	HHLA2:uc003dwz.3:exon4:c.C216T:p.H72H,HHLA2:uc003dwy.4:exon4:c.C216T:p.H72H,HHLA2:uc010hpu.3:exon5:c.C216T:p.H72H,	UNKNOWN	Het;C>T	1709;121|90	Hom;C>T	3714;0|142
N	N	-	3	108072524	108072524	G	A	snp	synonymous SNV	G315A	S105S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HHLA2	 	ENSG00000114455	HERV-H LTR-associating 2	chr3:108015376-108097132	This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Insulin; Stroke; Insulin Resistance	 		GO:0001819;positive regulation of cytokine production;IDA|GO:0031295;T cell costimulation;IDA|GO:0042104;positive regulation of activated T cell proliferation;IDA	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HHLA2	https://www.uniprot.org/uniprot/Q9UM44		https://www.ncbi.nlm.nih.gov/omim/?term=604371	http://www.informatics.jax.org/searchtool/Search.do?query=HHLA2&submit=Quick%0D%4468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HHLA2	rs2124740	0.153554	0.0255	0.1008	1	0	0	exonic	exonic	exonic	HHLA2	HHLA2	ENSG00000114455	synonymous SNV	synonymous SNV	unknown	HHLA2:NM_001282557:exon4:c.G315A:p.S105S,HHLA2:NM_001282556:exon4:c.G315A:p.S105S,HHLA2:NM_001282558:exon5:c.G315A:p.S105S,HHLA2:NM_007072:exon4:c.G315A:p.S105S,	HHLA2:uc003dwz.3:exon4:c.G315A:p.S105S,HHLA2:uc003dwy.4:exon4:c.G315A:p.S105S,HHLA2:uc010hpu.3:exon5:c.G315A:p.S105S,	UNKNOWN	Het;G>A	1318;86|67	Hom;G>A	3328;0|124
N	N	-	3	108103433	108103433	T	C	snp	intronic	 	 	 	 	MYH15	Myh15	ENSG00000144821	myosin heavy chain 15	chr3:108099216-108248169		Body Composition; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Coronary Disease|Coronary heart disease; Anticoagulants	 	Translocation of GLUT4 to the plasma membrane		GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH15	https://www.uniprot.org/uniprot/Q9Y2K3		https://www.ncbi.nlm.nih.gov/omim/?term=609929	http://www.informatics.jax.org/searchtool/Search.do?query=MYH15&submit=Quick%0D%8665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH15	rs3860537	0.91274	0	0	1	0	0	intronic	intronic	intronic	MYH15	MYH15	ENSG00000144821	Na	Na	Na	Na	Na	Na	Het;T>C	226;4|8	Hom;T>C	221;0|6
N	N	-	3	108107951	108107951	C	T	snp	intronic	 	 	 	 	MYH15	Myh15	ENSG00000144821	myosin heavy chain 15	chr3:108099216-108248169		Body Composition; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Coronary Disease|Coronary heart disease; Anticoagulants	 	Translocation of GLUT4 to the plasma membrane		GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH15	https://www.uniprot.org/uniprot/Q9Y2K3		https://www.ncbi.nlm.nih.gov/omim/?term=609929	http://www.informatics.jax.org/searchtool/Search.do?query=MYH15&submit=Quick%0D%8665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH15	rs1456714	0.16873	0.0282	0.1059	1	0	0	intronic	intronic	intronic	MYH15	MYH15	ENSG00000144821	Na	Na	Na	Na	Na	Na	Het;C>T	430;26|21	Hom;C>T	817;2|33
N	N	-	3	108135680	108135680	C	T	snp	synonymous SNV	G3987A	G1329G	aliphatic,neutral	aliphatic,neutral	MYH15	Myh15	ENSG00000144821	myosin heavy chain 15	chr3:108099216-108248169		Body Composition; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Coronary Disease|Coronary heart disease; Anticoagulants	 	Translocation of GLUT4 to the plasma membrane		GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH15	https://www.uniprot.org/uniprot/Q9Y2K3		https://www.ncbi.nlm.nih.gov/omim/?term=609929	http://www.informatics.jax.org/searchtool/Search.do?query=MYH15&submit=Quick%0D%8665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH15	rs9873504	0.209864	0.0722	0.1324	1	0	0	exonic	exonic	exonic	MYH15	MYH15	ENSG00000144821	synonymous SNV	synonymous SNV	unknown	MYH15:NM_014981:exon30:c.G3987A:p.G1329G,	MYH15:uc003dxa.1:exon30:c.G3987A:p.G1329G,	UNKNOWN	Het;C>T	446;47|26	Hom;C>T	1705;0|67
N	N	-	3	108135799	108135799	C	G	snp	intronic	 	 	 	 	MYH15	Myh15	ENSG00000144821	myosin heavy chain 15	chr3:108099216-108248169		Body Composition; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Coronary Disease|Coronary heart disease; Anticoagulants	 	Translocation of GLUT4 to the plasma membrane		GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH15	https://www.uniprot.org/uniprot/Q9Y2K3		https://www.ncbi.nlm.nih.gov/omim/?term=609929	http://www.informatics.jax.org/searchtool/Search.do?query=MYH15&submit=Quick%0D%8665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH15	rs11927603	0.640775	0.5331	0.5641	1	0	0	intronic	intronic	intronic	MYH15	MYH15	ENSG00000144821	Na	Na	Na	Na	Na	Na	Het;C>G	470;19|21	Hom;C>G	1324;0|48
N	N	-	3	108159977	108159977	G	A	snp	nonsynonymous SNV	C2846T	T949I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MYH15	Myh15	ENSG00000144821	myosin heavy chain 15	chr3:108099216-108248169		Body Composition; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Coronary Disease|Coronary heart disease; Anticoagulants	 	Translocation of GLUT4 to the plasma membrane		GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH15	https://www.uniprot.org/uniprot/Q9Y2K3		https://www.ncbi.nlm.nih.gov/omim/?term=609929	http://www.informatics.jax.org/searchtool/Search.do?query=MYH15&submit=Quick%0D%8665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH15	rs12638212	0.188698	0.0444	0.1244	0.58	7	12	exonic	exonic	exonic	MYH15	MYH15	ENSG00000144821	nonsynonymous SNV	nonsynonymous SNV	unknown	MYH15:NM_014981:exon24:c.C2846T:p.T949I,	MYH15:uc003dxa.1:exon24:c.C2846T:p.T949I,	UNKNOWN	Het;G>A	1258;36|59	Hom;G>A	2238;0|85
N	N	-	3	108183433	108183433	A	G	snp	intronic	 	 	 	 	MYH15	Myh15	ENSG00000144821	myosin heavy chain 15	chr3:108099216-108248169		Body Composition; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Coronary Disease|Coronary heart disease; Anticoagulants	 	Translocation of GLUT4 to the plasma membrane		GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH15	https://www.uniprot.org/uniprot/Q9Y2K3		https://www.ncbi.nlm.nih.gov/omim/?term=609929	http://www.informatics.jax.org/searchtool/Search.do?query=MYH15&submit=Quick%0D%8665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH15	rs12488437	0.188898	0.0459	0	1	0	0	intronic	intronic	intronic	MYH15	MYH15	ENSG00000144821	Na	Na	Na	Na	Na	Na	Het;A>G	144;8|6	Hom;A>G	505;0|18
N	N	-	3	108355575	108355576	CT	C	indel	intronic	 	 	 	 	DZIP3	Dzip3	ENSG00000198919	DAZ interacting zinc finger protein 3	chr3:108308529-108413693			Mice homozygous for an ENU-indcued allele exhibit embryonic lethality.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;IDA|GO:0016567;protein ubiquitination;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA	GO:0000836;Hrd1p ubiquitin ligase complex;IBA|GO:0005737;cytoplasm;IDA|GO:0036513;Derlin-1 retrotranslocation complex;IBA|GO:0044322;endoplasmic reticulum quality control compartment;IBA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IDA|GO:0031593;polyubiquitin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA|GO:0061630;ubiquitin protein ligase activity;IEA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;IBA|GO:1990381;ubiquitin-specific protease binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP3			https://www.ncbi.nlm.nih.gov/omim/?term=608672	http://www.informatics.jax.org/searchtool/Search.do?query=DZIP3&submit=Quick%0D%17080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP3	rs10711080	0.877596	0	0.7356	1	0	0	intronic	intronic	intronic	DZIP3	DZIP3	ENSG00000198919	Na	Na	Na	Na	Na	Na	Het;-T	1861;19|96	Hom;-T	1936;8|95
N	N	-	3	108474507	108474507	T	C	snp	UTR3	*118A>G	 	 	 	RETNLB	Retnlb	ENSG00000163515	resistin like beta	chr3:108462271-108476231		Cholesterol, LDL	Homozygous mutation of this gene on a C57BL/6 background provides protection from DSS-induced colitis while on an FVB/N background, mice are more susceptible to AOM/DSS-induced colon tumors.		GO:0008283;cell proliferation;NAS	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0003674;molecular_function;ND|GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RETNLB			https://www.ncbi.nlm.nih.gov/omim/?term=605645	http://www.informatics.jax.org/searchtool/Search.do?query=RETNLB&submit=Quick%0D%10990ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RETNLB	rs1374821	0.421126	0	0	1	0	0	UTR3	UTR3	UTR3	RETNLB(NM_032579:c.*118A>G)	RETNLB(uc003dxh.2:c.*118A>G)	ENSG00000163515(ENST00000295755:c.*118A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	256;5|9	Hom;T>C	233;0|8
N	N	-	3	108474567	108474567	G	T	snp	UTR3	*58C>A	 	 	 	RETNLB	Retnlb	ENSG00000163515	resistin like beta	chr3:108462271-108476231		Cholesterol, LDL	Homozygous mutation of this gene on a C57BL/6 background provides protection from DSS-induced colitis while on an FVB/N background, mice are more susceptible to AOM/DSS-induced colon tumors.		GO:0008283;cell proliferation;NAS	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0003674;molecular_function;ND|GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RETNLB			https://www.ncbi.nlm.nih.gov/omim/?term=605645	http://www.informatics.jax.org/searchtool/Search.do?query=RETNLB&submit=Quick%0D%10990ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RETNLB	rs75657243	0.184505	0	0	1	0	0	UTR3	UTR3	UTR3	RETNLB(NM_032579:c.*58C>A)	RETNLB(uc003dxh.2:c.*58C>A)	ENSG00000163515(ENST00000295755:c.*58C>A)	Na	Na	Na	Na	Na	Na	Het;G>T	629;18|29	Hom;G>T	749;2|28
N	N	-	3	108788461	108788461	T	C	snp	intronic	 	 	 	 	MORC1	Morc1	ENSG00000114487	MORC family CW-type zinc finger 1	chr3:108677086-108836989	This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]	Tobacco Use Disorder	Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;TAS|GO:0010529;negative regulation of transposition;IEA|GO:0030154;cell differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0044026;DNA hypermethylation;IEA|GO:2000143;negative regulation of DNA-templated transcription, initiation;IEA	GO:0005634;nucleus;TAS	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MORC1	https://www.uniprot.org/uniprot/Q86VD1		https://www.ncbi.nlm.nih.gov/omim/?term=603205	http://www.informatics.jax.org/searchtool/Search.do?query=MORC1&submit=Quick%0D%4471ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MORC1	rs2305238	0.397764	0.3010	0.4129	1	0	0	intronic	intronic	intronic	MORC1	MORC1	ENSG00000114487	Na	Na	Na	Na	Na	Na	Het;T>C	959;29|42	Hom;T>C	1549;0|59
N	N	-	3	108867128	108867128	A	G	snp	synonymous SNV	A78G	E26E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FLJ22763																		rs4855697	0.477236	0	0.4744	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	FLJ22763	FLJ22763	ENSG00000241224	Na	synonymous SNV	Na	Na	FLJ22763:uc003dxm.3:exon3:c.A78G:p.E26E,	Na	Het;A>G	503;34|26	Hom;A>G	1197;0|41
N	N	-	3	108867513	108867513	A	G	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs4855698	0.476438	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*214A>G)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;A>G	1152;59|51	Hom;A>G	4012;0|141
N	N	-	3	108867705	108867705	C	T	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs4855582	0.476438	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*406C>T)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;C>T	2583;156|121	Hom;C>T	6680;0|249
N	N	-	3	108867852	108867852	T	C	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs4855699	0.476238	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*553T>C)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;T>C	1555;66|63	Hom;T>C	3565;0|121
N	N	-	3	108868020	108868020	T	C	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs4855700	0.476238	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*721T>C)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;T>C	2953;79|77	Hom;T>C	4947;0|111
N	N	-	3	108868025	108868025	C	G	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs4855583	0.476238	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*726C>G)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;C>G	3090;80|80	Hom;C>G	5256;0|116
N	N	-	3	108868028	108868032	ATTCT	A	indel	ncRNA_exonic	 	 	 	 	FLJ22763																		rs57051438	0.476238	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*729_*733delinsA)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;-TTCT	3066;85|80	Hom;-TTCT	5333;0|118
N	N	-	3	108868125	108868125	G	A	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs10933975	0.476238	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*826G>A)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;G>A	2222;111|105	Hom;G>A	4814;0|172
N	N	-	3	108868151	108868151	A	G	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs10933976	0.476238	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*852A>G)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;A>G	2377;101|102	Hom;A>G	5380;0|180
N	N	-	3	108868914	108868914	A	C	snp	ncRNA_exonic	 	 	 	 	FLJ22763																		rs56027044	0.476238	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	FLJ22763	FLJ22763(uc003dxm.3:c.*1615A>C)	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;A>C	735;49|34	Hom;A>C	1861;0|63
N	N	-	3	108868961	108868962	TA	T	indel	ncRNA_exonic	 	 	 	 	FLJ22763																		rs552524027	0.523762	0	0	1	0	0	downstream	downstream	ncRNA_exonic	FLJ22763	FLJ22763	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;-A	204;12|13	Hom;-A	465;1|22
N	N	-	3	108869034	108869034	T	A	snp	downstream	 	 	 	 	FLJ22763																		rs56142450	0.476238	0	0	1	0	0	downstream	downstream	downstream	FLJ22763	FLJ22763	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;T>A	109;6|4	Hom;T>A	376;0|11
N	N	-	3	108869038	108869038	C	CA	indel	downstream	 	 	 	 	FLJ22763																		rs150519958	0.475639	0	0	1	0	0	downstream	downstream	downstream	FLJ22763	FLJ22763	ENSG00000241224	Na	Na	Na	Na	Na	Na	Het;+A	74;5|3	Hom;+A	303;0|7
N	N	-	3	109213239	109213239	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01205																		rs709428	0.453474	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LINC01205	FLJ25363(uc003dxr.1:c.*253G>A)	ENSG00000228980	Na	Na	Na	Na	Na	Na	Het;G>A	1628;98|81	Hom;G>A	4355;2|162
N	N	-	3	109635453	109635453	G	A	snp	ncRNA_exonic	 	 	 	 	AC068781.1																		rs61733710	0.298922	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR4445(dist=313709),PVRL3-AS1(dist=1128710)	FLJ25363(dist=421439),U6atac(dist=635239)	ENSG00000214380	Na	Na	Na	Na	Na	Na	Het;G>A	421;28|22	Hom;G>A	930;0|36
N	N	-	3	109635798	109635798	C	T	snp	upstream	 	 	 	 	AC068781.1																		rs17663892	0.291334	0	0	1	0	0	intergenic	intergenic	upstream	MIR4445(dist=314054),PVRL3-AS1(dist=1128365)	FLJ25363(dist=421784),U6atac(dist=634894)	ENSG00000214380	Na	Na	Na	Na	Na	Na	Het;C>T	269;21|15	Hom;C>T	761;0|29
N	N	-	3	110013360	110013360	C	A	snp	intergenic	 	 	 	 	AC078918.1																		rs1585519	0.307109	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4445(dist=691616),PVRL3-AS1(dist=750803)	FLJ25363(dist=799346),U6atac(dist=257332)	ENSG00000243945(dist=316746),ENSG00000240895(dist=232969)	Na	Na	Na	Na	Na	Na	Het;C>A	35;8|4	Hom;C>A	452;0|19
N	N	-	3	11059847	11059847	G	A	snp	ncRNA_intronic	 	 	 	 	SLC6A1-AS1																		rs2928078	0.56849	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	SLC6A1-AS1	SLC6A1-AS1	ENSG00000232287	Na	Na	Na	Na	Na	Na	Het;G>A	124;9|7	Hom;G>A	101;0|5
N	N	-	3	111637904	111637904	G	A	snp	intronic	 	 	 	 	PHLDB2	Phldb2	ENSG00000144824	pleckstrin homology like domain family B member 2	chr3:111451344-111695364		Cognitive performance ; Tobacco Use Disorder	Mice homozygous for a conditional allele activated in neurons exhibit impaired LTP.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0045184;establishment of protein localization;IMP|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IGI|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IGI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031252;cell leading edge;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045180;basal cortex;IDA	GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PHLDB2	https://www.uniprot.org/uniprot/Q86SQ0		https://www.ncbi.nlm.nih.gov/omim/?term=610298	http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB2&submit=Quick%0D%8666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB2	rs2399399	0.835663	0.8634	0.8648	1	0	0	intronic	intronic	intronic	PHLDB2	PHLDB2	ENSG00000144824	Na	Na	Na	Na	Na	Na	Het;G>A	668;50|36	Hom;G>A	1503;0|56
N	N	-	3	111638132	111638132	A	C	snp	intronic	 	 	 	 	PHLDB2	Phldb2	ENSG00000144824	pleckstrin homology like domain family B member 2	chr3:111451344-111695364		Cognitive performance ; Tobacco Use Disorder	Mice homozygous for a conditional allele activated in neurons exhibit impaired LTP.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0045184;establishment of protein localization;IMP|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IGI|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IGI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031252;cell leading edge;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045180;basal cortex;IDA	GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PHLDB2	https://www.uniprot.org/uniprot/Q86SQ0		https://www.ncbi.nlm.nih.gov/omim/?term=610298	http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB2&submit=Quick%0D%8666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB2	rs951660	0.835863	0	0	1	0	0	intronic	intronic	intronic	PHLDB2	PHLDB2	ENSG00000144824	Na	Na	Na	Na	Na	Na	Het;A>C	351;20|16	Hom;A>C	1045;0|34
N	N	-	3	111639353	111639353	G	T	snp	intronic	 	 	 	 	PHLDB2	Phldb2	ENSG00000144824	pleckstrin homology like domain family B member 2	chr3:111451344-111695364		Cognitive performance ; Tobacco Use Disorder	Mice homozygous for a conditional allele activated in neurons exhibit impaired LTP.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0045184;establishment of protein localization;IMP|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IGI|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IGI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031252;cell leading edge;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045180;basal cortex;IDA	GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PHLDB2	https://www.uniprot.org/uniprot/Q86SQ0		https://www.ncbi.nlm.nih.gov/omim/?term=610298	http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB2&submit=Quick%0D%8666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB2	rs937551	0.84405	0	0	1	0	0	intronic	intronic	intronic	PHLDB2	PHLDB2	ENSG00000144824	Na	Na	Na	Na	Na	Na	Het;G>T	265;11|12	Hom;G>T	736;0|25
N	N	-	3	111730487	111730487	T	C	snp	intronic	 	 	 	 	TAGLN3	Tagln3	ENSG00000144834	transgelin 3	chr3:111717511-111732734			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0007417;central nervous system development;TAS	GO:0005634;nucleus;IEA|GO:0043209;myelin sheath;IEA	GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAGLN3	https://www.uniprot.org/uniprot/Q9UI15		https://www.ncbi.nlm.nih.gov/omim/?term=607953	http://www.informatics.jax.org/searchtool/Search.do?query=TAGLN3&submit=Quick%0D%8668ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAGLN3	rs3749309	0.399561	0	0	1	0	0	intronic	intronic	intronic	TAGLN3	TAGLN3	ENSG00000144834	Na	Na	Na	Na	Na	Na	Het;T>C	102;5|5	Hom;T>C	338;0|10
N	N	-	3	111730546	111730546	G	A	snp	intronic	 	 	 	 	TAGLN3	Tagln3	ENSG00000144834	transgelin 3	chr3:111717511-111732734			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0007417;central nervous system development;TAS	GO:0005634;nucleus;IEA|GO:0043209;myelin sheath;IEA	GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAGLN3	https://www.uniprot.org/uniprot/Q9UI15		https://www.ncbi.nlm.nih.gov/omim/?term=607953	http://www.informatics.jax.org/searchtool/Search.do?query=TAGLN3&submit=Quick%0D%8668ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAGLN3	rs3749310	0.384984	0	0	1	0	0	intronic	intronic	intronic	TAGLN3	TAGLN3	ENSG00000144834	Na	Na	Na	Na	Na	Na	Het;G>A	411;13|18	Hom;G>A	1074;0|38
N	N	-	3	111730591	111730591	G	T	snp	intronic	 	 	 	 	TAGLN3	Tagln3	ENSG00000144834	transgelin 3	chr3:111717511-111732734			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0007417;central nervous system development;TAS	GO:0005634;nucleus;IEA|GO:0043209;myelin sheath;IEA	GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAGLN3	https://www.uniprot.org/uniprot/Q9UI15		https://www.ncbi.nlm.nih.gov/omim/?term=607953	http://www.informatics.jax.org/searchtool/Search.do?query=TAGLN3&submit=Quick%0D%8668ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAGLN3	rs3749311	0.399561	0.4517	0.5204	1	0	0	intronic	intronic	intronic	TAGLN3	TAGLN3	ENSG00000144834	Na	Na	Na	Na	Na	Na	Het;G>T	807;26|38	Hom;G>T	1954;0|71
N	N	-	3	112338027	112338027	T	C	snp	intronic	 	 	 	 	CCDC80	Ccdc80	ENSG00000091986	coiled-coil domain containing 80	chr3:112323407-112368377		Prostatic Neoplasms	Mice homozygous for a null allele exhibit increased adiposity, hyperglycemia, glucose intolerance, impaired insulin secretion, and altered energy intake and expenditure when fed a high-fat diet. Mice homozygous for a different null allele develop thyroid adenomas and ovarian carcinomas.		GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001968;fibronectin binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC80	https://www.uniprot.org/uniprot/Q76M96		https://www.ncbi.nlm.nih.gov/omim/?term=608298	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC80&submit=Quick%0D%2169ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC80	rs13084615	0.715855	0	0	1	0	0	intronic	intronic	intronic	CCDC80	CCDC80	ENSG00000091986	Na	Na	Na	Na	Na	Na	Het;T>C	1080;53|45	Hom;T>C	2683;0|88
N	N	-	3	112709828	112709828	C	G	snp	ncRNA_exonic	 	 	 	 	AC074044.1																		rs2272393	0.472644	0.5863	0.6744	1	0	0	UTR5	UTR5	ncRNA_exonic	GTPBP8(NM_014170:c.-19C>G,NM_138485:c.-19C>G)	GTPBP8(uc003dzn.3:c.-19C>G,uc003dzo.3:c.-19C>G)	ENSG00000272844	Na	Na	Na	Na	Na	Na	Het;C>G	920;33|42	Hom;C>G	2134;0|77
N	N	-	3	112727184	112727184	A	T	snp	nonsynonymous SNV	T1069A	F357I	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C3orf17	Nepro																	rs2306857	0.496206	0.6134	0.6698	0.08	1	13	exonic	exonic	exonic	C3orf17	C3orf17	ENSG00000163608	nonsynonymous SNV	nonsynonymous SNV	unknown	C3orf17:NM_015412:exon8:c.T1069A:p.F357I,	C3orf17:uc010hqg.3:exon7:c.T544A:p.F182I,C3orf17:uc003dzr.3:exon8:c.T1069A:p.F357I,C3orf17:uc011bia.2:exon7:c.T460A:p.F154I,C3orf17:uc003dzs.3:exon7:c.T661A:p.F221I,C3orf17:uc011bib.2:exon7:c.T736A:p.F246I,C3orf17:uc003dzu.3:exon6:c.T856A:p.F286I,C3orf17:uc011bic.2:exon5:c.T568A:p.F190I,C3orf17:uc003dzt.3:exon7:c.T778A:p.F260I,	UNKNOWN	Het;A>T	639;37|33	Hom;A>T	1839;0|67
N	N	-	3	112729768	112729768	A	T	snp	intronic	 	 	 	 	C3orf17	Nepro																	rs2293562	0.477236	0	0	1	0	0	intronic	intronic	intronic	C3orf17	C3orf17	ENSG00000163607,ENSG00000163608	Na	Na	Na	Na	Na	Na	Het;A>T	87;4|4	Hom;A>T	143;0|5
N	N	-	3	112861446	112861446	T	A	snp	ncRNA_exonic	 	 	 	 	LOC101929717																		rs73223921	0.310104	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929717	C3orf17(dist=122891),BOC(dist=68966)	ENSG00000243795	Na	Na	Na	Na	Na	Na	Het;T>A	544;19|15	Hom;T>A	1188;4|45
N	N	-	3	112862458	112862458	T	TC	indel	ncRNA_exonic	 	 	 	 	LOC101929717																		rs397950577	0.376597	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929717	C3orf17(dist=123903),BOC(dist=67954)	ENSG00000243795	Na	Na	Na	Na	Na	Na	Het;+C	985;61|37	Hom;+C	1959;3|71
N	N	-	3	112991196	112991196	C	G	snp	UTR5	-291C>G	 	 	 	BOC	Boc	ENSG00000144857	BOC cell adhesion associated, oncogene regulated	chr3:112929850-113006303	The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]		Mice homozygous for a null mutation display abnormal commissural axon projections.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0007155;cell adhesion;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007411;axon guidance;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044295;axonal growth cone;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BOC	https://www.uniprot.org/uniprot/Q9BWV1		https://www.ncbi.nlm.nih.gov/omim/?term=608708	http://www.informatics.jax.org/searchtool/Search.do?query=BOC&submit=Quick%0D%8675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOC	rs3930154	0.528754	0	0	1	0	0	intronic	UTR5	intronic	BOC	BOC(uc003eab.3:c.-291C>G)	ENSG00000144857	Na	Na	Na	Na	Na	Na	Het;C>G	193;17|9	Hom;C>G	803;0|27
N	N	-	3	113080172	113080172	C	T	snp	intronic	 	 	 	 	CFAP44	Cfap44																	rs9872143	0.391174	0	0	1	0	0	intronic	intronic	intronic	CFAP44	WDR52	ENSG00000206530	Na	Na	Na	Na	Na	Na	Het;C>T	38;4|3	Hom;C>T	82;0|4
N	N	-	3	113092197	113092197	A	G	snp	intronic	 	 	 	 	CFAP44	Cfap44																	rs1463640	0.388379	0	0	1	0	0	intronic	intronic	intronic	CFAP44	WDR52	ENSG00000206530	Na	Na	Na	Na	Na	Na	Het;A>G	499;25|22	Hom;A>G	1747;0|61
N	N	-	3	113135345	113135345	A	C	snp	ncRNA_intronic	 	 	 	 	WDR52-AS1																		rs12635786	0.300319	0.2142	0.3008	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CFAP44-AS1	WDR52-AS1	ENSG00000243849	Na	Na	Na	Na	Na	Na	Het;A>C	443;15|19	Hom;A>C	1167;1|43
N	N	-	3	113146130	113146130	T	C	snp	nonsynonymous SNV	A157G	K53E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	CFAP44	Cfap44																	rs59722850	0.272564	0.1913	0.2714	0.17	2	12	exonic	exonic	exonic	CFAP44	WDR52	ENSG00000206530	nonsynonymous SNV	nonsynonymous SNV	unknown	CFAP44:NM_018338:exon3:c.A157G:p.K53E,CFAP44:NM_001164496:exon3:c.A157G:p.K53E,	WDR52:uc003eae.2:exon3:c.A157G:p.K53E,WDR52:uc003ead.2:exon3:c.A157G:p.K53E,	UNKNOWN	Het;T>C	2665;82|70	Hom;T>C	4269;0|114
N	N	-	3	113164109	113164109	A	G	snp	UTR3	*45T>C	 	 	 	SPICE1	Spice1	ENSG00000163611	spindle and centriole associated protein 1	chr3:113161565-113234034			 		GO:0007049;cell cycle;IEA|GO:0046599;regulation of centriole replication;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0090307;mitotic spindle assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPICE1			https://www.ncbi.nlm.nih.gov/omim/?term=613447	http://www.informatics.jax.org/searchtool/Search.do?query=SPICE1&submit=Quick%0D%11027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPICE1	rs2054823	0.583067	0.5339	0.5001	1	0	0	UTR3	UTR3	UTR3	SPICE1(NM_144718:c.*45T>C)	SPICE1(uc003eag.4:c.*45T>C)	ENSG00000163611(ENST00000295872:c.*45T>C,ENST00000467618:c.*45T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	407;11|17	Hom;A>G	949;0|32
N	N	-	3	113207758	113207758	G	A	snp	intronic	 	 	 	 	SPICE1	Spice1	ENSG00000163611	spindle and centriole associated protein 1	chr3:113161565-113234034			 		GO:0007049;cell cycle;IEA|GO:0046599;regulation of centriole replication;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0090307;mitotic spindle assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPICE1			https://www.ncbi.nlm.nih.gov/omim/?term=613447	http://www.informatics.jax.org/searchtool/Search.do?query=SPICE1&submit=Quick%0D%11027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPICE1	rs7625841	0.583267	0.5386	0.4979	1	0	0	intronic	intronic	intronic	SPICE1	SPICE1	ENSG00000163611	Na	Na	Na	Na	Na	Na	Het;G>A	637;19|28	Hom;G>A	1346;0|50
N	N	-	3	113284149	113284149	C	T	snp	intronic	 	 	 	 	SIDT1	Sidt1	ENSG00000072858	SID1 transmembrane family member 1	chr3:113251143-113348425		Tobacco Use Disorder	 		GO:0033227;dsRNA transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT1	https://www.uniprot.org/uniprot/Q9NXL6		https://www.ncbi.nlm.nih.gov/omim/?term=606816	http://www.informatics.jax.org/searchtool/Search.do?query=SIDT1&submit=Quick%0D%1453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT1	rs12629813	0.507388	0	0	1	0	0	intronic	intronic	intronic	SIDT1	SIDT1	ENSG00000072858	Na	Na	Na	Na	Na	Na	Het;C>T	187;12|7	Hom;C>T	637;0|15
N	N	-	3	113284162	113284162	G	T	snp	intronic	 	 	 	 	SIDT1	Sidt1	ENSG00000072858	SID1 transmembrane family member 1	chr3:113251143-113348425		Tobacco Use Disorder	 		GO:0033227;dsRNA transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT1	https://www.uniprot.org/uniprot/Q9NXL6		https://www.ncbi.nlm.nih.gov/omim/?term=606816	http://www.informatics.jax.org/searchtool/Search.do?query=SIDT1&submit=Quick%0D%1453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT1	rs12629879	0.48742	0	0	1	0	0	intronic	intronic	intronic	SIDT1	SIDT1	ENSG00000072858	Na	Na	Na	Na	Na	Na	Het;G>T	135;9|4	Hom;G>T	602;0|14
N	N	-	3	113300183	113300183	A	T	snp	intronic	 	 	 	 	SIDT1	Sidt1	ENSG00000072858	SID1 transmembrane family member 1	chr3:113251143-113348425		Tobacco Use Disorder	 		GO:0033227;dsRNA transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT1	https://www.uniprot.org/uniprot/Q9NXL6		https://www.ncbi.nlm.nih.gov/omim/?term=606816	http://www.informatics.jax.org/searchtool/Search.do?query=SIDT1&submit=Quick%0D%1453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT1	rs2271494	0.525759	0.4548	0.4638	1	0	0	intronic	intronic	intronic	SIDT1	SIDT1	ENSG00000072858	Na	Na	Na	Na	Na	Na	Het;A>T	808;45|36	Hom;A>T	2108;0|74
N	N	-	3	113300351	113300351	T	G	snp	intronic	 	 	 	 	SIDT1	Sidt1	ENSG00000072858	SID1 transmembrane family member 1	chr3:113251143-113348425		Tobacco Use Disorder	 		GO:0033227;dsRNA transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0051033;RNA transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIDT1	https://www.uniprot.org/uniprot/Q9NXL6		https://www.ncbi.nlm.nih.gov/omim/?term=606816	http://www.informatics.jax.org/searchtool/Search.do?query=SIDT1&submit=Quick%0D%1453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIDT1	rs9863703	0.396765	0.2812	0	1	0	0	intronic	intronic	intronic	SIDT1	SIDT1	ENSG00000072858	Na	Na	Na	Na	Na	Na	Het;T>G	654;15|26	Hom;T>G	1398;0|43
N	N	-	3	113655207	113655207	C	T	snp	synonymous SNV	C1551T	N517N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GRAMD1C	Gramd1c	ENSG00000178075	GRAM domain containing 1C	chr3:113547029-113666021			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRAMD1C				http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD1C&submit=Quick%0D%14131ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD1C	rs3765114	0.230032	0.2407	0.2890	1	0	0	exonic	exonic	exonic	GRAMD1C	GRAMD1C	ENSG00000178075	synonymous SNV	synonymous SNV	unknown	GRAMD1C:NM_017577:exon14:c.C1551T:p.N517N,GRAMD1C:NM_001172105:exon9:c.C936T:p.N312N,	GRAMD1C:uc003eaq.4:exon14:c.C1551T:p.N517N,GRAMD1C:uc003eas.3:exon9:c.C936T:p.N312N,GRAMD1C:uc011bil.3:exon15:c.C738T:p.N246N,GRAMD1C:uc003ear.3:exon9:c.C1050T:p.N350N,GRAMD1C:uc003eat.3:exon5:c.C528T:p.N176N,	UNKNOWN	Het;C>T	2096;120|104	Hom;C>T	4289;2|169
N	N	-	3	113656833	113656833	C	G	snp	intronic	 	 	 	 	GRAMD1C	Gramd1c	ENSG00000178075	GRAM domain containing 1C	chr3:113547029-113666021			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRAMD1C				http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD1C&submit=Quick%0D%14131ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD1C	rs1963015	0.389377	0	0	1	0	0	intronic	intronic	intronic	GRAMD1C	GRAMD1C	ENSG00000178075	Na	Na	Na	Na	Na	Na	Het;C>G	33;2|3	Hom;C>G	291;0|9
N	N	-	3	113659308	113659308	G	C	snp	intronic	 	 	 	 	GRAMD1C	Gramd1c	ENSG00000178075	GRAM domain containing 1C	chr3:113547029-113666021			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRAMD1C				http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD1C&submit=Quick%0D%14131ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD1C	rs2029228	0.228834	0	0	1	0	0	intronic	intronic	intronic	GRAMD1C	GRAMD1C	ENSG00000178075	Na	Na	Na	Na	Na	Na	Het;G>C	555;18|19	Hom;G>C	794;0|23
N	N	-	3	113664183	113664185	CAG	C	indel	intronic	 	 	 	 	GRAMD1C	Gramd1c	ENSG00000178075	GRAM domain containing 1C	chr3:113547029-113666021			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRAMD1C				http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD1C&submit=Quick%0D%14131ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD1C	rs5851910	0.289537	0	0	1	0	0	intronic	intronic	intronic	GRAMD1C	GRAMD1C	ENSG00000178075	Na	Na	Na	Na	Na	Na	Het;-AG	147;8|5	Hom;-AG	541;0|13
N	N	-	3	113955055	113955056	GA	G	indel	UTR3	*45_*44delinsC	 	 	 	ZNF80		ENSG00000174255	zinc finger protein 80	chr3:113953483-113956425					GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF80			https://www.ncbi.nlm.nih.gov/omim/?term=194553	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF80&submit=Quick%0D%13497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF80	rs11316836	0.584665	0	0.5357	1	0	0	UTR3	UTR3	UTR3	ZNF80(NM_007136:c.*45_*44delinsC)	ZNF80(uc010hqo.3:c.*45_*44delinsC)	ENSG00000174255(ENST00000308095:c.*45_*44delinsC,ENST00000482457:c.*45_*44delinsC)	Na	Na	Na	Na	Na	Na	Het;-A	326;4|20	Hom;-A	232;0|12
N	N	-	3	114026673	114026673	A	G	snp	intronic	 	 	 	 	TIGIT	Tigit	ENSG00000181847	T-cell immunoreceptor with Ig and ITIM domains	chr3:113995760-114029135	This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]	Myocardial Infarction	Mice homozygous for a knock-out allele exhibit increased T cell proliferation, antigen presenting cell stimuation of T cell proliferation, and susceptibility to EAE.		GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0008037;cell recognition;IBA|GO:0032695;negative regulation of interleukin-12 production;IMP|GO:0032733;positive regulation of interleukin-10 production;IMP|GO:0050868;negative regulation of T cell activation;IMP	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0005913;cell-cell adherens junction;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TIGIT			https://www.ncbi.nlm.nih.gov/omim/?term=612859	http://www.informatics.jax.org/searchtool/Search.do?query=TIGIT&submit=Quick%0D%14680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGIT	rs11714612	0.233826	0	0	1	0	0	intronic	intronic	intronic	TIGIT	TIGIT	ENSG00000181847	Na	Na	Na	Na	Na	Na	Het;A>G	198;9|8	Hom;A>G	1011;0|35
N	N	-	3	114043776	114043776	T	G	snp	UTR3	*14076A>C	 	 	 	ZBTB20	Zbtb20	ENSG00000181722	zinc finger and BTB domain containing 20	chr3:114056941-114866118		Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Celiac Disease|; Tobacco Use Disorder; Stomach Neoplasms; Carotid Artery Diseases; Cholesterol, HDL; Life Expectancy	Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB20		https://hpo.jax.org/app/browse/search?q=ZBTB20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606025	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB20&submit=Quick%0D%14658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB20	rs2399503	0.261382	0	0	1	0	0	UTR3	intergenic	intergenic	ZBTB20(NM_001164342:c.*14076A>C,NM_015642:c.*14076A>C,NM_001164343:c.*14076A>C,NM_001164344:c.*14076A>C,NM_001164345:c.*14076A>C,NM_001164346:c.*14076A>C,NM_001164347:c.*14076A>C)	MIR568(dist=8360),ZBTB20(dist=13171)	ENSG00000207770(dist=8360),ENSG00000181722(dist=13165)	Na	Na	Na	Na	Na	Na	Het;T>G	1390;83|62	Hom;T>G	4213;2|143
N	N	-	3	114053870	114053870	G	A	snp	UTR3	*3982C>T	 	 	 	ZBTB20	Zbtb20	ENSG00000181722	zinc finger and BTB domain containing 20	chr3:114056941-114866118		Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Celiac Disease|; Tobacco Use Disorder; Stomach Neoplasms; Carotid Artery Diseases; Cholesterol, HDL; Life Expectancy	Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB20		https://hpo.jax.org/app/browse/search?q=ZBTB20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606025	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB20&submit=Quick%0D%14658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB20	rs11710293	0.258586	0	0	1	0	0	UTR3	intergenic	intergenic	ZBTB20(NM_001164342:c.*3982C>T,NM_015642:c.*3982C>T,NM_001164343:c.*3982C>T,NM_001164344:c.*3982C>T,NM_001164345:c.*3982C>T,NM_001164346:c.*3982C>T,NM_001164347:c.*3982C>T)	MIR568(dist=18454),ZBTB20(dist=3077)	ENSG00000207770(dist=18454),ENSG00000181722(dist=3071)	Na	Na	Na	Na	Na	Na	Het;G>A	1796;83|77	Hom;G>A	4844;0|168
N	N	-	3	114054104	114054104	C	T	snp	UTR3	*3748G>A	 	 	 	ZBTB20	Zbtb20	ENSG00000181722	zinc finger and BTB domain containing 20	chr3:114056941-114866118		Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Celiac Disease|; Tobacco Use Disorder; Stomach Neoplasms; Carotid Artery Diseases; Cholesterol, HDL; Life Expectancy	Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB20		https://hpo.jax.org/app/browse/search?q=ZBTB20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606025	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB20&submit=Quick%0D%14658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB20	rs35796964	0.269569	0	0	1	0	0	UTR3	intergenic	intergenic	ZBTB20(NM_001164342:c.*3748G>A,NM_015642:c.*3748G>A,NM_001164343:c.*3748G>A,NM_001164344:c.*3748G>A,NM_001164345:c.*3748G>A,NM_001164346:c.*3748G>A,NM_001164347:c.*3748G>A)	MIR568(dist=18688),ZBTB20(dist=2843)	ENSG00000207770(dist=18688),ENSG00000181722(dist=2837)	Na	Na	Na	Na	Na	Na	Het;C>T	847;66|48	Hom;C>T	2957;1|109
N	N	-	3	114055186	114055186	C	T	snp	UTR3	*2666G>A	 	 	 	ZBTB20	Zbtb20	ENSG00000181722	zinc finger and BTB domain containing 20	chr3:114056941-114866118		Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Celiac Disease|; Tobacco Use Disorder; Stomach Neoplasms; Carotid Artery Diseases; Cholesterol, HDL; Life Expectancy	Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB20		https://hpo.jax.org/app/browse/search?q=ZBTB20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606025	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB20&submit=Quick%0D%14658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB20	rs11929619	0.289537	0	0	1	0	0	UTR3	intergenic	intergenic	ZBTB20(NM_001164342:c.*2666G>A,NM_015642:c.*2666G>A,NM_001164343:c.*2666G>A,NM_001164344:c.*2666G>A,NM_001164345:c.*2666G>A,NM_001164346:c.*2666G>A,NM_001164347:c.*2666G>A)	MIR568(dist=19770),ZBTB20(dist=1761)	ENSG00000207770(dist=19770),ENSG00000181722(dist=1755)	Na	Na	Na	Na	Na	Na	Het;C>T	1115;61|51	Hom;C>T	2746;1|99
N	N	-	3	114076135	114076135	C	T	snp	ncRNA_intronic	 	 	 	 	ZBTB20-AS1																		rs7646039	0.311701	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ZBTB20-AS1	ZBTB20-AS1	ENSG00000241560	Na	Na	Na	Na	Na	Na	Het;C>T	195;6|8	Hom;C>T	417;0|15
N	N	-	3	114078257	114078257	A	G	snp	ncRNA_exonic	 	 	 	 	ZBTB20-AS1																		rs17670847	0.291534	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZBTB20-AS1	ZBTB20-AS1	ENSG00000241560	Na	Na	Na	Na	Na	Na	Het;A>G	1422;59|67	Hom;A>G	3394;3|133
N	N	-	3	114085776	114085776	C	CACTT	indel	ncRNA_intronic	 	 	 	 	ZBTB20-AS1																		rs3085153	0.404153	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ZBTB20-AS1	ZBTB20-AS1	ENSG00000241560	Na	Na	Na	Na	Na	Na	Het;+ACTT	1653;80|46	Hom;+ACTT	4786;0|106
N	N	-	3	114085985	114085985	C	T	snp	ncRNA_exonic	 	 	 	 	ZBTB20-AS1																		rs2030439	0.395367	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ZBTB20-AS1	ZBTB20-AS1	ENSG00000241560	Na	Na	Na	Na	Na	Na	Het;C>T	1351;84|68	Hom;C>T	4962;0|185
N	N	-	3	114338895	114338895	C	T	snp	intronic	 	 	 	 	ZBTB20	Zbtb20	ENSG00000181722	zinc finger and BTB domain containing 20	chr3:114056941-114866118		Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Celiac Disease|; Tobacco Use Disorder; Stomach Neoplasms; Carotid Artery Diseases; Cholesterol, HDL; Life Expectancy	Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB20		https://hpo.jax.org/app/browse/search?q=ZBTB20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606025	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB20&submit=Quick%0D%14658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB20	rs9849279	0.120008	0	0	1	0	0	intronic	intronic	intronic	ZBTB20	ZBTB20	ENSG00000181722	Na	Na	Na	Na	Na	Na	Het;C>T	96;19|7	Hom;C>T	735;0|26
N	N	-	3	114388932	114388932	A	C	snp	intronic	 	 	 	 	ZBTB20	Zbtb20	ENSG00000181722	zinc finger and BTB domain containing 20	chr3:114056941-114866118		Type 2 Diabetes| edema | rosiglitazone; schizophrenia; Celiac Disease|; Tobacco Use Disorder; Stomach Neoplasms; Carotid Artery Diseases; Cholesterol, HDL; Life Expectancy	Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0032728;positive regulation of interferon-beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB20		https://hpo.jax.org/app/browse/search?q=ZBTB20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606025	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB20&submit=Quick%0D%14658ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB20	rs9861493	0.191094	0	0	1	0	0	intronic	intronic	intronic	ZBTB20	ZBTB20	ENSG00000181722	Na	Na	Na	Na	Na	Na	Het;A>C	194;11|11	Hom;A>C	547;0|22
N	N	-	3	116745838	116745838	A	G	snp	ncRNA_exonic	 	 	 	 	PTMAP8																		rs10154829	0.53115	0	0	1	0	0	intergenic	upstream	ncRNA_exonic	LINC00901(dist=94753),IGSF11(dist=1873641)	JB175279	ENSG00000243014	Na	Na	Na	Na	Na	Na	Het;A>G	161;5|8	Hom;A>G	826;0|30
N	N	-	3	116745905	116745905	G	T	snp	upstream	 	 	 	 	JB175279																		rs10154950	0.530551	0	0	1	0	0	intergenic	upstream	intronic	LINC00901(dist=94820),IGSF11(dist=1873574)	JB175279	ENSG00000185565	Na	Na	Na	Na	Na	Na	Het;G>T	252;7|8	Hom;G>T	655;0|18
N	N	-	3	116745925	116745925	A	G	snp	upstream	 	 	 	 	JB175279																		rs10154849	0.530751	0	0	1	0	0	intergenic	upstream	intronic	LINC00901(dist=94840),IGSF11(dist=1873554)	JB175279	ENSG00000185565	Na	Na	Na	Na	Na	Na	Het;A>G	206;6|6	Hom;A>G	461;0|10
N	N	-	3	116745967	116745967	A	T	snp	upstream	 	 	 	 	JB175279																		rs79098661	0.527157	0	0	1	0	0	intergenic	upstream	intronic	LINC00901(dist=94882),IGSF11(dist=1873512)	JB175279	ENSG00000185565	Na	Na	Na	Na	Na	Na	Het;A>T	147;5|5	Hom;A>T	217;0|7
N	N	-	3	116746261	116746261	C	T	snp	upstream	 	 	 	 	JB175279																		rs17730203	0.358227	0	0	1	0	0	intergenic	upstream	intronic	LINC00901(dist=95176),IGSF11(dist=1873218)	JB175279	ENSG00000185565	Na	Na	Na	Na	Na	Na	Het;C>T	173;20|10	Hom;C>T	748;0|26
N	N	-	3	116746298	116746298	G	C	snp	upstream	 	 	 	 	JB175279																		rs17662604	0.174521	0	0	1	0	0	intergenic	upstream	intronic	LINC00901(dist=95213),IGSF11(dist=1873181)	JB175279	ENSG00000185565	Na	Na	Na	Na	Na	Na	Het;G>C	449;40|26	Hom;G>C	1809;1|68
N	N	-	3	116746374	116746374	C	T	snp	upstream	 	 	 	 	JB175279																		rs35725689	0.358227	0	0	1	0	0	intergenic	upstream	intronic	LINC00901(dist=95289),IGSF11(dist=1873105)	JB175279	ENSG00000185565	Na	Na	Na	Na	Na	Na	Het;C>T	520;76|33	Hom;C>T	2387;2|88
N	N	-	3	116746476	116746476	A	T	snp	downstream	 	 	 	 	JB175279																		rs12185920	0.358027	0	0	1	0	0	intergenic	downstream	intronic	LINC00901(dist=95391),IGSF11(dist=1873003)	JB175279	ENSG00000185565	Na	Na	Na	Na	Na	Na	Het;A>T	317;25|10	Hom;A>T	1596;0|33
N	N	-	3	117881826	117881826	G	A	snp	ncRNA_intronic	 	 	 	 	AC068633.1																		rs9821810	0.794329	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00901(dist=1230741),IGSF11(dist=737653)	JB175279(dist=1135426),EU250752(dist=345547)	ENSG00000243276	Na	Na	Na	Na	Na	Na	Het;G>A	40;3|3	Hom;G>A	71;0|4
N	N	-	3	118269825	118269826	GT	G	indel	ncRNA_intronic	 	 	 	 	AC068633.1																		rs57227846	0.585264	0	0	1	0	0	intergenic	intronic	ncRNA_intronic	LINC00901(dist=1618740),IGSF11(dist=349653)	EU250752	ENSG00000243276	Na	Na	Na	Na	Na	Na	Het;-T	900;17|44	Hom;-T	908;5|45
N	N	-	3	119112559	119112559	A	G	snp	intronic	 	 	 	 	ARHGAP31	Arhgap31	ENSG00000031081	Rho GTPase activating protein 31	chr3:119013220-119139561	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Celiac Disease	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31	https://www.uniprot.org/uniprot/Q2M1Z3	https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610911	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31	rs935616	0.647364	0	0	1	0	0	intronic	intronic	intronic	ARHGAP31	ARHGAP31	ENSG00000031081	Na	Na	Na	Na	Na	Na	Het;A>G	163;10|6	Hom;A>G	536;0|16
N	N	-	3	119120577	119120577	G	C	snp	intronic	 	 	 	 	ARHGAP31	Arhgap31	ENSG00000031081	Rho GTPase activating protein 31	chr3:119013220-119139561	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Celiac Disease	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31	https://www.uniprot.org/uniprot/Q2M1Z3	https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610911	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31	rs10511390	0.284944	0	0	1	0	0	intronic	intronic	intronic	ARHGAP31	ARHGAP31	ENSG00000031081	Na	Na	Na	Na	Na	Na	Het;G>C	87;1|4	Hom;G>C	175;0|5
N	N	-	3	119128628	119128628	A	G	snp	intronic	 	 	 	 	ARHGAP31	Arhgap31	ENSG00000031081	Rho GTPase activating protein 31	chr3:119013220-119139561	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Celiac Disease	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31	https://www.uniprot.org/uniprot/Q2M1Z3	https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610911	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31	rs1463139	0.633786	0.6437	0.6424	1	0	0	intronic	intronic	intronic	ARHGAP31	ARHGAP31	ENSG00000031081	Na	Na	Na	Na	Na	Na	Het;A>G	623;33|19	Hom;A>G	2281;0|53
N	N	-	3	119128634	119128634	T	C	snp	intronic	 	 	 	 	ARHGAP31	Arhgap31	ENSG00000031081	Rho GTPase activating protein 31	chr3:119013220-119139561	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Celiac Disease	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31	https://www.uniprot.org/uniprot/Q2M1Z3	https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610911	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31	rs1463138	0.464856	0.4589	0.5507	1	0	0	intronic	intronic	intronic	ARHGAP31	ARHGAP31	ENSG00000031081	Na	Na	Na	Na	Na	Na	Het;T>C	551;30|16	Hom;T>C	2222;0|50
N	N	-	3	119133183	119133183	G	A	snp	nonsynonymous SNV	G2407A	G803S	aliphatic,neutral	polar,hydrophilic,neutral	ARHGAP31	Arhgap31	ENSG00000031081	Rho GTPase activating protein 31	chr3:119013220-119139561	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Celiac Disease	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31	https://www.uniprot.org/uniprot/Q2M1Z3	https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610911	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31	rs3732413	0.845647	0.8316	0.8083	0.08	1	13	exonic	exonic	exonic	ARHGAP31	ARHGAP31	ENSG00000031081	nonsynonymous SNV	nonsynonymous SNV	unknown	ARHGAP31:NM_020754:exon12:c.G2407A:p.G803S,	ARHGAP31:uc003ecj.4:exon12:c.G2407A:p.G803S,	UNKNOWN	Het;G>A	816;53|36	Hom;G>A	2123;0|79
N	N	-	3	119136096	119136096	A	AC	indel	UTR3	*985A>AC	 	 	 	ARHGAP31	Arhgap31	ENSG00000031081	Rho GTPase activating protein 31	chr3:119013220-119139561	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Celiac Disease	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31	https://www.uniprot.org/uniprot/Q2M1Z3	https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610911	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31	rs11391882	0.780351	0	0	1	0	0	UTR3	UTR3	UTR3	ARHGAP31(NM_020754:c.*985A>AC)	ARHGAP31(uc003ecj.4:c.*985A>AC)	ENSG00000031081(ENST00000264245:c.*985A>AC)	Na	Na	Na	Na	Na	Na	Het;+C	484;13|15	Hom;+C	917;0|24
N	N	-	3	119137855	119137855	A	G	snp	UTR3	*2744A>G	 	 	 	ARHGAP31	Arhgap31	ENSG00000031081	Rho GTPase activating protein 31	chr3:119013220-119139561	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Celiac Disease	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31	https://www.uniprot.org/uniprot/Q2M1Z3	https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610911	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31	rs9289129	0.761182	0	0	1	0	0	UTR3	UTR3	UTR3	ARHGAP31(NM_020754:c.*2744A>G)	ARHGAP31(uc003ecj.4:c.*2744A>G)	ENSG00000031081(ENST00000264245:c.*2744A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	744;12|30	Hom;A>G	1105;0|43
N	N	-	3	119171280	119171280	C	G	snp	intronic	 	 	 	 	TMEM39A	Tmem39a	ENSG00000176142	transmembrane protein 39A	chr3:119148347-119187677		hypertension; multiple sclerosis; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM39A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM39A&submit=Quick%0D%13806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM39A	rs1919586	0.819089	0.8048	0.8015	1	0	0	intronic	intronic	intronic	TMEM39A	TMEM39A	ENSG00000176142	Na	Na	Na	Na	Na	Na	Het;C>G	1268;43|59	Hom;C>G	2063;0|80
N	N	-	3	119188895	119188895	C	G	snp	intronic	 	 	 	 	POGLUT1	Poglut1	ENSG00000163389	protein O-glucosyltransferase 1	chr3:119187785-119213555	This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	Chromosome Aberrations|Myelodysplastic Syndromes; Celiac disease	Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling.	Pre-NOTCH Processing in the Endoplasmic Reticulum	GO:0001756;somitogenesis;IEA|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IDA|GO:0006664;glycolipid metabolic process;IBA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0010470;regulation of gastrulation;IEA|GO:0018242;protein O-linked glycosylation via serine;IMP|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0048318;axial mesoderm development;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0060537;muscle tissue development;IMP|GO:0072358;cardiovascular system development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0070062;extracellular exosome;IDA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030158;protein xylosyltransferase activity;IEA|GO:0035251;UDP-glucosyltransferase activity;IDA|GO:0035252;UDP-xylosyltransferase activity;IMP|GO:0046527;glucosyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POGLUT1		https://hpo.jax.org/app/browse/search?q=POGLUT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615618	http://www.informatics.jax.org/searchtool/Search.do?query=POGLUT1&submit=Quick%0D%10952ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POGLUT1	rs6438531	0.845647	0	0	1	0	0	intronic	intronic	intronic	POGLUT1	POGLUT1	ENSG00000163389	Na	Na	Na	Na	Na	Na	Het;C>G	141;5|5	Hom;C>G	365;0|10
N	N	-	3	119196334	119196334	G	T	snp	intronic	 	 	 	 	POGLUT1	Poglut1	ENSG00000163389	protein O-glucosyltransferase 1	chr3:119187785-119213555	This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	Chromosome Aberrations|Myelodysplastic Syndromes; Celiac disease	Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling.	Pre-NOTCH Processing in the Endoplasmic Reticulum	GO:0001756;somitogenesis;IEA|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IDA|GO:0006664;glycolipid metabolic process;IBA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0010470;regulation of gastrulation;IEA|GO:0018242;protein O-linked glycosylation via serine;IMP|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0048318;axial mesoderm development;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0060537;muscle tissue development;IMP|GO:0072358;cardiovascular system development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0070062;extracellular exosome;IDA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030158;protein xylosyltransferase activity;IEA|GO:0035251;UDP-glucosyltransferase activity;IDA|GO:0035252;UDP-xylosyltransferase activity;IMP|GO:0046527;glucosyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POGLUT1		https://hpo.jax.org/app/browse/search?q=POGLUT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615618	http://www.informatics.jax.org/searchtool/Search.do?query=POGLUT1&submit=Quick%0D%10952ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POGLUT1	rs3732419	0.639377	0.5890	0.5735	1	0	0	intronic	intronic	intronic	POGLUT1	POGLUT1	ENSG00000163389	Na	Na	Na	Na	Na	Na	Het;G>T	348;16|17	Hom;G>T	735;0|22
N	N	-	3	119198873	119198873	G	A	snp	UTR3	*83G>A	 	 	 	POGLUT1	Poglut1	ENSG00000163389	protein O-glucosyltransferase 1	chr3:119187785-119213555	This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	Chromosome Aberrations|Myelodysplastic Syndromes; Celiac disease	Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling.	Pre-NOTCH Processing in the Endoplasmic Reticulum	GO:0001756;somitogenesis;IEA|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IDA|GO:0006664;glycolipid metabolic process;IBA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0010470;regulation of gastrulation;IEA|GO:0018242;protein O-linked glycosylation via serine;IMP|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0048318;axial mesoderm development;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0060537;muscle tissue development;IMP|GO:0072358;cardiovascular system development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0070062;extracellular exosome;IDA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030158;protein xylosyltransferase activity;IEA|GO:0035251;UDP-glucosyltransferase activity;IDA|GO:0035252;UDP-xylosyltransferase activity;IMP|GO:0046527;glucosyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POGLUT1		https://hpo.jax.org/app/browse/search?q=POGLUT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615618	http://www.informatics.jax.org/searchtool/Search.do?query=POGLUT1&submit=Quick%0D%10952ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POGLUT1	rs4688007	0.830871	0.8159	0.8034	1	0	0	intronic	UTR5	UTR3	POGLUT1	POGLUT1(uc011bja.2:c.-46G>A)	ENSG00000163389(ENST00000486607:c.*83G>A,ENST00000497447:c.*152G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1685;81|80	Hom;G>A	3839;0|145
N	N	-	3	119211867	119211867	G	C	snp	UTR3	*582G>C	 	 	 	POGLUT1	Poglut1	ENSG00000163389	protein O-glucosyltransferase 1	chr3:119187785-119213555	This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]	Chromosome Aberrations|Myelodysplastic Syndromes; Celiac disease	Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling.	Pre-NOTCH Processing in the Endoplasmic Reticulum	GO:0001756;somitogenesis;IEA|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IDA|GO:0006664;glycolipid metabolic process;IBA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0010470;regulation of gastrulation;IEA|GO:0018242;protein O-linked glycosylation via serine;IMP|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0048318;axial mesoderm development;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0060537;muscle tissue development;IMP|GO:0072358;cardiovascular system development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0070062;extracellular exosome;IDA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030158;protein xylosyltransferase activity;IEA|GO:0035251;UDP-glucosyltransferase activity;IDA|GO:0035252;UDP-xylosyltransferase activity;IMP|GO:0046527;glucosyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POGLUT1		https://hpo.jax.org/app/browse/search?q=POGLUT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615618	http://www.informatics.jax.org/searchtool/Search.do?query=POGLUT1&submit=Quick%0D%10952ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POGLUT1	rs1938	0.389177	0	0	1	0	0	UTR3	UTR3	UTR3	POGLUT1(NM_152305:c.*582G>C)	POGLUT1(uc011bja.2:c.*582G>C,uc003ecm.3:c.*582G>C)	ENSG00000163389(ENST00000295588:c.*582G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1320;66|56	Hom;G>C	2621;0|88
N	N	-	3	119236017	119236017	G	T	snp	intronic	 	 	 	 	TIMMDC1	Timmdc1	ENSG00000113845	translocase of inner mitochondrial membrane domain containing 1	chr3:119217379-119243937		null; Face; Acquired Immunodeficiency Syndrome|Disease Progression; Liver Cirrhosis, Biliary	Mice homozygous for a gene trap allele exhibit lethality. Heterozygous mice show an increased mean percentage of CD4 cells in the peripheral blood compared with controls, but no other notable heterozygous phenotype was detected.	Complex I biogenesis	GO:0032981;mitochondrial respiratory chain complex I assembly;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TIMMDC1	https://www.uniprot.org/uniprot/Q9NPL8	https://hpo.jax.org/app/browse/search?q=TIMMDC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615534	http://www.informatics.jax.org/searchtool/Search.do?query=TIMMDC1&submit=Quick%0D%4414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMMDC1	rs4461452	0.380791	0.3658	0.3251	1	0	0	intronic	intronic	intronic	TIMMDC1	TIMMDC1	ENSG00000113845	Na	Na	Na	Na	Na	Na	Het;G>T	556;38|26	Hom;G>T	1549;0|57
N	N	-	3	11925358	11925358	T	C	snp	ncRNA_intronic	 	 	 	 	FANCD2P2																		rs2470562	0.158946	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TAMM41(dist=36965),SYN2(dist=120476)	TAMM41(dist=37006),DQ583118(dist=26825)	ENSG00000230342	Na	Na	Na	Na	Na	Na	Het;T>C	32;6|2	Hom;T>C	516;0|14
N	N	-	3	11925489	11925489	C	T	snp	ncRNA_exonic	 	 	 	 	FANCD2P2																		rs2470561	0.478235	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TAMM41(dist=37096),SYN2(dist=120345)	TAMM41(dist=37137),DQ583118(dist=26694)	ENSG00000230342	Na	Na	Na	Na	Na	Na	Het;C>T	784;64|40	Hom;C>T	1411;0|50
N	N	-	3	11925610	11925610	C	T	snp	ncRNA_intronic	 	 	 	 	FANCD2P2																		rs421090	0.46905	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TAMM41(dist=37217),SYN2(dist=120224)	TAMM41(dist=37258),DQ583118(dist=26573)	ENSG00000230342	Na	Na	Na	Na	Na	Na	Het;C>T	512;42|26	Hom;C>T	1253;0|48
N	N	-	3	119263680	119263680	C	T	snp	synonymous SNV	G135A	V45V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CD80	Cd80	ENSG00000121594	CD80 molecule	chr3:119243140-119278449	The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]	Celiac disease; lung cancer ; celiac disease; lung cancer; multiple sclerosis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; rheumatoid arthritis; systemic lupus erythematosus; chronic obstructive pulmonary disease; Neoplasms; sarcoidosis; Celiac Disease|; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hepatitis C|Remission, Spontaneous; subacute sclerosing panencephalitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hepatocellular carcinoma; cervical intraepithelial neoplasia grade 3; respiratory syncytial virus bronchiolitis; hepatitis C; rheumatoid arthritis; systemic lupus erythematosus; bladder cancer	Homozygous mutation of this gene results in a 70% reduction in the mixed lymphocyte response in LPS- and dextran sulfate-stimulated B cells.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0007267;cell-cell signaling;IC|GO:0009967;positive regulation of signal transduction;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0035556;intracellular signal transduction;NAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042110;T cell activation;IC|GO:0045086;positive regulation of interleukin-2 biosynthetic process;NAS|GO:0045425;positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;NAS|GO:0045627;positive regulation of T-helper 1 cell differentiation;NAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0046641;positive regulation of alpha-beta T cell proliferation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0098636;protein complex involved in cell adhesion;IDA	GO:0001618;virus receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;NAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CD80	https://www.uniprot.org/uniprot/P33681		https://www.ncbi.nlm.nih.gov/omim/?term=112203	http://www.informatics.jax.org/searchtool/Search.do?query=CD80&submit=Quick%0D%5329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD80	rs2228017	0.221046	0.2274	0.2518	1	0	0	exonic	exonic	exonic	CD80	CD80	ENSG00000121594	synonymous SNV	synonymous SNV	unknown	CD80:NM_005191:exon3:c.G135A:p.V45V,	CD80:uc003ecr.1:exon2:c.G135A:p.V45V,CD80:uc010hqu.1:exon2:c.G135A:p.V45V,CD80:uc003ecq.3:exon3:c.G135A:p.V45V,CD80:uc010hqt.1:exon2:c.G135A:p.V45V,	UNKNOWN	Het;C>T	1148;70|57	Hom;C>T	3312;0|124
N	N	-	3	119334986	119334986	G	A	snp	intronic	 	 	 	 	PLA1A	Pla1a	ENSG00000144837	phospholipase A1 member A	chr3:119316689-119348658	The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]	Type 2 Diabetes| edema | rosiglitazone	 	Acyl chain remodelling of PS	GO:0006629;lipid metabolic process;TAS|GO:0006658;phosphatidylserine metabolic process;TAS|GO:0016042;lipid catabolic process;IEA|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS	GO:0002080;acrosomal membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA	GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0052739;phosphatidylserine 1-acylhydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLA1A	https://www.uniprot.org/uniprot/Q53H76		https://www.ncbi.nlm.nih.gov/omim/?term=607460	http://www.informatics.jax.org/searchtool/Search.do?query=PLA1A&submit=Quick%0D%8669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA1A	rs2247660	0.700479	0.5789	0.5871	1	0	0	intronic	intronic	intronic	PLA1A	PLA1A	ENSG00000144837	Na	Na	Na	Na	Na	Na	Het;G>A	349;18|16	Hom;G>A	744;0|28
N	N	-	3	119361250	119361250	A	G	snp	UTR3	*73T>C	 	 	 	POPDC2	Popdc2	ENSG00000121577	popeye domain containing 2	chr3:119355304-119384171	This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node.		GO:0002027;regulation of heart rate;ISS|GO:0008150;biological_process;ND	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/POPDC2	https://www.uniprot.org/uniprot/Q9HBU9		https://www.ncbi.nlm.nih.gov/omim/?term=605823	http://www.informatics.jax.org/searchtool/Search.do?query=POPDC2&submit=Quick%0D%5326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POPDC2	rs8007	0.480831	0	0	1	0	0	UTR3	UTR3	UTR3	POPDC2(NM_022135:c.*73T>C)	POPDC2(uc010hqw.1:c.*168T>C,uc003ecx.1:c.*73T>C,uc003ecy.2:c.*168T>C,uc031sba.1:c.*202T>C,uc031sbb.1:c.*202T>C,uc031sbc.1:c.*207T>C,uc031sbd.1:c.*207T>C,uc031sbf.1:c.*73T>C,uc031sbg.1:c.*73T>C,uc031sbh.1:c.*73T>C,uc031sbi.1:c.*202T>C,uc031sbj.1:c.*202T>C,uc031sbk.1:c.*202T>C)	ENSG00000121577(ENST00000495362:c.*73T>C,ENST00000341124:c.*285T>C,ENST00000264231:c.*73T>C,ENST00000493094:c.*202T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	365;11|17	Hom;A>G	841;0|28
N	N	-	3	119362318	119362318	A	G	snp	intronic	 	 	 	 	POPDC2	Popdc2	ENSG00000121577	popeye domain containing 2	chr3:119355304-119384171	This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node.		GO:0002027;regulation of heart rate;ISS|GO:0008150;biological_process;ND	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/POPDC2	https://www.uniprot.org/uniprot/Q9HBU9		https://www.ncbi.nlm.nih.gov/omim/?term=605823	http://www.informatics.jax.org/searchtool/Search.do?query=POPDC2&submit=Quick%0D%5326ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POPDC2	rs67683909	0.257788	0	0.2426	1	0	0	intronic	intronic	intronic	POPDC2	POPDC2	ENSG00000121577	Na	Na	Na	Na	Na	Na	Het;A>G	265;27|15	Hom;A>G	731;1|28
N	N	-	3	119501748	119501748	C	T	snp	intronic	 	 	 	 	NR1I2	Nr1i2	ENSG00000144852	nuclear receptor subfamily 1 group I member 2	chr3:119499331-119537332	This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]	lung cancer ; Hearing Loss; myocardial infarction; HIV Infections; Osteoporosis, Postmenopausal; lopinavir accumulation; Epilepsy; Hepatopulmonary Syndrome|Liver Cirrhosis; hepatic CYP3A4 expression; Leukopenia|Neutropenia; bronchodilator response; Breast Neoplasms|Neutropenia; cirrhosis, biliary primary; Tobacco Use Disorder; inflammatory bowel disease; null; Drug-Induced Liver Injury; tacrolimus; alcohol; Breast Neoplasms; CYP3A metabolic activity; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Body Weight; breast cancer; pharmacogenetics of cyclosporine; normal variation; sex hormones; Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease ; plasma HDL-C levels; Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Pregnancy Complications; colorectal cancer; Colitis, Ulcerative|Crohn Disease; warfarin sensitivity; leukemia, acute myeloblastic; cholangitis, sclerosing; breast cancer 	Mice homozygous for a targeted null mutation are viable and fertile but exhibit specific loss of xenoregulation of CYP3A11.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006805;xenobiotic metabolic process;IDA|GO:0007165;signal transduction;TAS|GO:0008202;steroid metabolic process;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042738;exogenous drug catabolic process;IDA|GO:0042908;xenobiotic transport;IDA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046618;drug export;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0004887;thyroid hormone receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NR1I2	https://www.uniprot.org/uniprot/O75469		https://www.ncbi.nlm.nih.gov/omim/?term=603065	http://www.informatics.jax.org/searchtool/Search.do?query=NR1I2&submit=Quick%0D%8674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NR1I2	rs116598923	0.0171725	0.0141	0.0179	1	0	0	intronic	intronic	intronic	NR1I2	NR1I2	ENSG00000144852	Na	Na	Na	Na	Na	Na	Het;C>T	457;18|21	Hom;C>T	1185;1|44
N	N	-	3	119534153	119534153	C	T	snp	intronic	 	 	 	 	NR1I2	Nr1i2	ENSG00000144852	nuclear receptor subfamily 1 group I member 2	chr3:119499331-119537332	This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]	lung cancer ; Hearing Loss; myocardial infarction; HIV Infections; Osteoporosis, Postmenopausal; lopinavir accumulation; Epilepsy; Hepatopulmonary Syndrome|Liver Cirrhosis; hepatic CYP3A4 expression; Leukopenia|Neutropenia; bronchodilator response; Breast Neoplasms|Neutropenia; cirrhosis, biliary primary; Tobacco Use Disorder; inflammatory bowel disease; null; Drug-Induced Liver Injury; tacrolimus; alcohol; Breast Neoplasms; CYP3A metabolic activity; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Body Weight; breast cancer; pharmacogenetics of cyclosporine; normal variation; sex hormones; Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease ; plasma HDL-C levels; Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Pregnancy Complications; colorectal cancer; Colitis, Ulcerative|Crohn Disease; warfarin sensitivity; leukemia, acute myeloblastic; cholangitis, sclerosing; breast cancer 	Mice homozygous for a targeted null mutation are viable and fertile but exhibit specific loss of xenoregulation of CYP3A11.	Nuclear Receptor transcription pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006805;xenobiotic metabolic process;IDA|GO:0007165;signal transduction;TAS|GO:0008202;steroid metabolic process;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042738;exogenous drug catabolic process;IDA|GO:0042908;xenobiotic transport;IDA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046618;drug export;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0004887;thyroid hormone receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NR1I2	https://www.uniprot.org/uniprot/O75469		https://www.ncbi.nlm.nih.gov/omim/?term=603065	http://www.informatics.jax.org/searchtool/Search.do?query=NR1I2&submit=Quick%0D%8674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NR1I2	rs2276707	0.319688	0.2424	0.2442	1	0	0	intronic	intronic	intronic	NR1I2	NR1I2	ENSG00000144852	Na	Na	Na	Na	Na	Na	Het;C>T	886;25|40	Hom;C>T	1390;0|52
N	N	-	3	119721171	119721171	T	C	snp	intronic	 	 	 	 	GSK3B	Gsk3b	ENSG00000082701	glycogen synthase kinase 3 beta	chr3:119540170-119813264	The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	schizophrenia; bipolar disorder; Weight Gain; lung cancer; Stroke; Alzheimers disease; depression; Dyskinesia, Drug-Induced|Movement Disorders; Alzheimer's disease ; esophageal adenocarcinoma; Bulimia; null; Alcoholism; schizophrenia; Bone Diseases|Multiple Myeloma; breast cancer ; psychotic symptoms in mood disorders; bladder cancer; Polycystic Ovary Syndrome; Parkinsons disease; alcohol consumption; methamphetamine abuse schizophrenia; polycystic ovary syndrome; Alzheimer's Disease; Dyskinesia, Drug-Induced|; BMI- Edema rosiglitazone or pioglitazone; Parkinson's disease ; bipolar disorder; bipolar disorder schizophrenia; plasma HDL cholesterol (HDL-C) levels; Hypercholesterolemia|LDLC levels; Bone Mineral Density; stomach cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; breast cancer; hepatocellular carcinoma.; major depressive disorder; chronic obstructive pulmonary disease	Mice homozygous for disruptions in this gene may die embryonically around mid-gestation or neonatally. When mice die neonatally, cleft palate and sternum are present.	Constitutive Signaling by AKT1 E17K in Cancer	GO:0001837;epithelial to mesenchymal transition;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006983;ER overload response;IDA|GO:0007212;dopamine receptor signaling pathway;NAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;ISS|GO:0009968;negative regulation of signal transduction;IEA|GO:0010822;positive regulation of mitochondrion organization;IMP|GO:0016055;Wnt signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0021766;hippocampus development;IMP|GO:0030154;cell differentiation;IEA|GO:0031333;negative regulation of protein complex assembly;IMP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032092;positive regulation of protein binding;ISS|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IC|GO:0032886;regulation of microtubule-based process;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0036016;cellular response to interleukin-3;ISS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045719;negative regulation of glycogen biosynthetic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0046777;protein autophosphorylation;IDA|GO:0046827;positive regulation of protein export from nucleus;IDA|GO:0048511;rhythmic process;IEA|GO:0051534;negative regulation of NFAT protein import into nucleus;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0071109;superior temporal gyrus development;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;ISS|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1900181;negative regulation of protein localization to nucleus;ISS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;ISS|GO:1901216;positive regulation of neuron death;IDA|GO:1904339;negative regulation of dopaminergic neuron differentiation;TAS|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS|GO:2000077;negative regulation of type B pancreatic cell development;TAS|GO:2000466;negative regulation of glycogen (starch) synthase activity;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:1990909;Wnt signalosome;TAS	GO:0000166;nucleotide binding;IEA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0002020;protease binding;IPI|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008013;beta-catenin binding;IPI|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0034236;protein kinase A catalytic subunit binding;IPI|GO:0050321;tau-protein kinase activity;IDA|GO:0051059;NF-kappaB binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GSK3B	https://www.uniprot.org/uniprot/P49841		https://www.ncbi.nlm.nih.gov/omim/?term=605004	http://www.informatics.jax.org/searchtool/Search.do?query=GSK3B&submit=Quick%0D%1811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSK3B	rs12108149	0.307109	0	0	1	0	0	intronic	intronic	intronic	GSK3B	GSK3B	ENSG00000082701	Na	Na	Na	Na	Na	Na	Het;T>C	263;9|10	Hom;T>C	697;0|19
N	N	-	3	120026848	120026848	G	C	snp	downstream	 	 	 	 	AC063952.2																		rs787197	0.84385	0	0	1	0	0	intergenic	intergenic	downstream	GPR156(dist=63706),LRRC58(dist=16728)	GPR156(dist=63523),LRRC58(dist=16728)	ENSG00000240882	Na	Na	Na	Na	Na	Na	Het;G>C	424;24|22	Hom;G>C	1249;0|46
N	N	-	3	120122332	120122332	G	C	snp	intronic	 	 	 	 	FSTL1	Fstl1	ENSG00000163430	follistatin like 1	chr3:120111140-120170100	This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]	Schizophrenia; Cholesterol, LDL; rheumatoid arthritis; Cholesterol; Hip; prostate cancer	Mice homozygous for a knock-out allele exhibit neonatal lethality, soft and enlarged trachea, cyanosis, primary atelectasis, lung epithelial cell hyperplasia, over-expanded bronchiole, impaired pneumocyte differentiation and maturation, and decreased surfactant production.	Post-translational protein phosphorylation	GO:0030509;BMP signaling pathway;TAS|GO:0042594;response to starvation;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FSTL1			https://www.ncbi.nlm.nih.gov/omim/?term=605547	http://www.informatics.jax.org/searchtool/Search.do?query=FSTL1&submit=Quick%0D%10962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSTL1	rs2030414	0.327476	0	0	1	0	0	intronic	intronic	intronic	FSTL1	FSTL1	ENSG00000163430	Na	Na	Na	Na	Na	Na	Het;G>C	191;3|7	Hom;G>C	144;0|5
N	N	-	3	121825197	121825197	G	A	snp	nonsynonymous SNV	G535A	V179I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CD86	Cd86	ENSG00000114013	CD86 molecule	chr3:121774213-121839983	This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]	Coronary Artery Disease; asthma atopy; respiratory syncytial virus bronchiolitis; rheumatoid arthritis; liver transplant; Atherosclerosis|; multiple sclerosis; lung cancer; Pemphigus; cervical intraepithelial neoplasia grade 3; Hepatitis C|Remission, Spontaneous; systemic lupus erythematosus; subacute sclerosing panencephalitis; diabetes, type 1; Erythrocyte Count; celiac disease; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; rheumatoid arthritis; systemic lupus erythematosus; chronic obstructive pulmonary disease; Hepatitis B|Recurrence; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; sarcoidosis; colorectal cancer; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|; Multiple Sclerosis; lung cancer ; Neoplasms; sclerosis, systemic; bladder cancer; Chronic renal failure|Kidney Failure, Chronic; antibiotic-induced cutaneous allergic reactions; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice on an NOD background display a phenotype similar to human Guillain-Barre Syndrome, exhibiting severe peripheral nervous system inflammation, sciatic nerve demyelination, elevated auto-antibodies to myelin protein zero, hindlimb paralysis, and weak forelimb grip.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0001878;response to yeast;IEA|GO:0002224;toll-like receptor signaling pathway;IEA|GO:0002250;adaptive immune response;IEA|GO:0002309;T cell proliferation involved in immune response;IEA|GO:0002376;immune system process;IEA|GO:0002668;negative regulation of T cell anergy;IEA|GO:0006955;immune response;TAS|GO:0007267;cell-cell signaling;IC|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0034138;toll-like receptor 3 signaling pathway;IEA|GO:0034341;response to interferon-gamma;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0042110;T cell activation;IC|GO:0042113;B cell activation;IEA|GO:0042493;response to drug;IEA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043017;positive regulation of lymphotoxin A biosynthetic process;NAS|GO:0045086;positive regulation of interleukin-2 biosynthetic process;NAS|GO:0045404;positive regulation of interleukin-4 biosynthetic process;NAS|GO:0045630;positive regulation of T-helper 2 cell differentiation;NAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0046718;viral entry into host cell;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0051607;defense response to virus;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071248;cellular response to metal ion;IEA|GO:0071345;cellular response to cytokine stimulus;IEA	GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA	GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;NAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CD86	https://www.uniprot.org/uniprot/P42081		https://www.ncbi.nlm.nih.gov/omim/?term=601020	http://www.informatics.jax.org/searchtool/Search.do?query=CD86&submit=Quick%0D%4423ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD86	rs2681417	0.868011	0.8483	0.9138	0.08	1	13	exonic	exonic	exonic	CD86	CD86	ENSG00000114013	nonsynonymous SNV	nonsynonymous SNV	unknown	CD86:NM_006889:exon4:c.G535A:p.V179I,CD86:NM_001206925:exon3:c.G307A:p.V103I,CD86:NM_175862:exon4:c.G553A:p.V185I,CD86:NM_176892:exon4:c.G535A:p.V179I,CD86:NM_001206924:exon3:c.G217A:p.V73I,	CD86:uc021xcz.1:exon4:c.G535A:p.V179I,CD86:uc003eeu.3:exon4:c.G535A:p.V179I,CD86:uc003eet.3:exon4:c.G553A:p.V185I,CD86:uc011bjp.2:exon3:c.G217A:p.V73I,CD86:uc011bjo.2:exon3:c.G307A:p.V103I,	UNKNOWN	Het;G>A	1822;99|87	Hom;G>A	5108;0|195
N	N	-	3	122345870	122345870	C	T	snp	synonymous SNV	C726T	S242S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PARP15	 	ENSG00000173200	poly(ADP-ribose) polymerase family member 15	chr3:122296449-122357894	PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008]	Diabetes Mellitus; Depressive Disorder, Major; Type 2 Diabetes| edema | rosiglitazone; Heart Rate	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARP15			https://www.ncbi.nlm.nih.gov/omim/?term=612066	http://www.informatics.jax.org/searchtool/Search.do?query=PARP15&submit=Quick%0D%13307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP15	rs17208928	0.0832668	0.1421	0.1494	1	0	0	exonic	exonic	exonic	PARP15	PARP15	ENSG00000173200	synonymous SNV	synonymous SNV	unknown	PARP15:NM_001113523:exon9:c.C1428T:p.S476S,PARP15:NM_152615:exon5:c.C726T:p.S242S,	PARP15:uc003efp.1:exon5:c.C726T:p.S242S,PARP15:uc003efo.1:exon11:c.C669T:p.S223S,PARP15:uc003efm.2:exon9:c.C1428T:p.S476S,	UNKNOWN	Het;C>T	1364;88|66	Hom;C>T	4102;0|152
N	N	-	3	122354716	122354716	C	T	snp	synonymous SNV	C1104T	D368D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PARP15	 	ENSG00000173200	poly(ADP-ribose) polymerase family member 15	chr3:122296449-122357894	PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008]	Diabetes Mellitus; Depressive Disorder, Major; Type 2 Diabetes| edema | rosiglitazone; Heart Rate	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARP15			https://www.ncbi.nlm.nih.gov/omim/?term=612066	http://www.informatics.jax.org/searchtool/Search.do?query=PARP15&submit=Quick%0D%13307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP15	rs61754895	0.107428	0.1783	0.1790	1	0	0	exonic	exonic	exonic	PARP15	PARP15	ENSG00000173200	synonymous SNV	synonymous SNV	unknown	PARP15:NM_001113523:exon12:c.C1806T:p.D602D,PARP15:NM_152615:exon8:c.C1104T:p.D368D,	PARP15:uc003efp.1:exon8:c.C1104T:p.D368D,PARP15:uc003efo.1:exon14:c.C1047T:p.D349D,PARP15:uc003efm.2:exon12:c.C1806T:p.D602D,PARP15:uc003efn.2:exon9:c.C1221T:p.D407D,PARP15:uc011bjt.1:exon7:c.C897T:p.D299D,	UNKNOWN	Het;C>T	414;23|19	Hom;C>T	1236;1|46
N	N	-	3	122406077	122406077	G	A	snp	intronic	 	 	 	 	PARP14	Parp14	ENSG00000173193	poly(ADP-ribose) polymerase family member 14	chr3:122399465-122449687	This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016]	Hip	Mice homozygous for a gene trap allele exhibit altered B cell subsets and inability to respond to the apoptosis protective affects of IL4.	Nicotinamide salvaging	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0003723;RNA binding;IEA|GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARP14			https://www.ncbi.nlm.nih.gov/omim/?term=610028	http://www.informatics.jax.org/searchtool/Search.do?query=PARP14&submit=Quick%0D%13305ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP14	rs790131	0.495208	0	0	1	0	0	intronic	intronic	intronic	PARP14	PARP14	ENSG00000173193	Na	Na	Na	Na	Na	Na	Het;G>A	160;5|7	Hom;G>A	410;0|14
N	N	-	3	123021870	123021870	G	C	snp	intronic	 	 	 	 	ADCY5	Adcy5	ENSG00000173175	adenylate cyclase 5	chr3:123001143-123168605	This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]	fasting glucose-related traits ; Glucose Tolerance Test; Birth Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Birth Weight; Type 2 diabetes; two-hour glucose challenge ; Glucose Transporter Type 2; glucose-stimulated beta cell function; cardiac function; Diabetes mellitus type II|Diabetes Mellitus, Type 2	Targeted inactivation of this gene has been shown to result in motor dysfunction.	Hedgehog 'off' state	GO:0001973;adenosine receptor signaling pathway;IEA|GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IDA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007191;adenylate cyclase-activating dopamine receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IMP|GO:0007626;locomotory behavior;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IMP|GO:0071377;cellular response to glucagon stimulus;TAS|GO:1904322;cellular response to forskolin;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0042995;cell projection;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0008179;adenylate cyclase binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY5		https://hpo.jax.org/app/browse/search?q=ADCY5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600293	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY5&submit=Quick%0D%13304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY5	rs9844212	0.441693	0.5544	0.5270	1	0	0	intronic	intronic	intronic	ADCY5	ADCY5	ENSG00000173175	Na	Na	Na	Na	Na	Na	Het;G>C	773;20|34	Hom;G>C	1534;0|55
N	N	-	3	123452838	123452838	G	A	snp	synonymous SNV	C1005T	T335T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MYLK	Mylk	ENSG00000065534	myosin light chain kinase	chr3:123328896-123603178	This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]	Hypertension; muscle testing; Critical Illness|Respiratory Distress Syndrome, Adult|Wounds and Injuries; asthma; Asthma|; Congenital Heart Defects|Heart Defects, Congenital; Alcohol Drinking; Coronary Artery Disease; Lung Injury|Pneumonia; sepsis; lung injury, acute; null; asthma IgE; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone	Mice that lack the isoform abundant in endothelial cells show a reduced susceptibility to acute lung injury. Mice lacking the smooth muscle isoform exhibit partial pre- or neonatal lethality, short small intestine and impaired smooth muscle contraction in the colon.	RHO GTPases activate PAKs	GO:0006468;protein phosphorylation;TAS|GO:0006936;muscle contraction;TAS|GO:0006939;smooth muscle contraction;IBA|GO:0014820;tonic smooth muscle contraction;ISS|GO:0016310;phosphorylation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0032060;bleb assembly;IMP|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0060414;aorta smooth muscle tissue morphogenesis;IMP|GO:0071476;cellular hypotonic response;IDA|GO:0090303;positive regulation of wound healing;IDA	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IDA|GO:0032154;cleavage furrow;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004687;myosin light chain kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYLK	https://www.uniprot.org/uniprot/Q15746	https://hpo.jax.org/app/browse/search?q=MYLK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600922	http://www.informatics.jax.org/searchtool/Search.do?query=MYLK&submit=Quick%0D%1180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYLK	rs4678047	0.632788	0.5744	0.6566	1	0	0	exonic	exonic	exonic	MYLK	MYLK	ENSG00000065534	synonymous SNV	synonymous SNV	unknown	MYLK:NM_053025:exon10:c.C1005T:p.T335T,MYLK:NM_053027:exon10:c.C1005T:p.T335T,MYLK:NM_053028:exon10:c.C1005T:p.T335T,MYLK:NM_053026:exon10:c.C1005T:p.T335T,	MYLK:uc003ego.3:exon10:c.C1005T:p.T335T,MYLK:uc003egq.3:exon10:c.C1005T:p.T335T,MYLK:uc011bjw.2:exon7:c.C1005T:p.T335T,MYLK:uc003egs.3:exon9:c.C477T:p.T159T,MYLK:uc003egp.3:exon10:c.C1005T:p.T335T,MYLK:uc003egr.3:exon10:c.C1005T:p.T335T,	UNKNOWN	Het;G>A	1386;70|66	Hom;G>A	2900;0|103
N	N	-	3	123650447	123650448	TA	T	indel	intronic	 	 	 	 	CCDC14	Ccdc14	ENSG00000175455	coiled-coil domain containing 14	chr3:123616152-123680564		Alcohol Drinking	 		GO:0021762;substantia nigra development;IEP|GO:0071539;protein localization to centrosome;IMP	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC14			https://www.ncbi.nlm.nih.gov/omim/?term=617147	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC14&submit=Quick%0D%13701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC14	rs35352118	0.563698	0	0	1	0	0	intronic	intronic	intronic	CCDC14	CCDC14	ENSG00000175455	Na	Na	Na	Na	Na	Na	Het;-A	136;11|11	Hom;-A	200;2|13
N	N	-	3	124646234	124646234	A	C	snp	intronic	 	 	 	 	MUC13	Muc13	ENSG00000173702	mucin 13, cell surface associated	chr3:124624289-124672663	Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]		 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0030277;maintenance of gastrointestinal epithelium;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IMP|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MUC13			https://www.ncbi.nlm.nih.gov/omim/?term=612181	http://www.informatics.jax.org/searchtool/Search.do?query=MUC13&submit=Quick%0D%13413ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC13	rs6770196	0.398163	0	0	1	0	0	intronic	intronic	intronic	MUC13	MUC13	ENSG00000173702	Na	Na	Na	Na	Na	Na	Het;A>C	43;1|2	Hom;A>C	48;0|2
N	N	-	3	124686733	124686733	C	A	snp	UTR3	*2763G>T	 	 	 	HEG1	Heg1	ENSG00000173706	heart development protein with EGF like domains 1	chr3:124684554-124774802		Tobacco Use Disorder; Eosinophils	Mice homozygous for a knock-out allele exhibit impaired integrity of the heart, blood vessels and lymphatic vessels, resulting in hemopericardium, lung hemorrhage, lymphangiectasis, and chylous ascites, as well as embryonic and postnatal lethality.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001885;endothelial cell development;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0003017;lymph circulation;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;IEA|GO:0009791;post-embryonic development;IEA|GO:0030324;lung development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050878;regulation of body fluid levels;IEA|GO:0055017;cardiac muscle tissue growth;IEA|GO:0060039;pericardium development;IEA|GO:0090271;positive regulation of fibroblast growth factor production;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HEG1			https://www.ncbi.nlm.nih.gov/omim/?term=614182	http://www.informatics.jax.org/searchtool/Search.do?query=HEG1&submit=Quick%0D%13415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEG1	rs3184121	0.329073	0	0	1	0	0	UTR3	UTR3	UTR3	HEG1(NM_020733:c.*2763G>T)	HEG1(uc003ehr.4:c.*2763G>T,uc003ehs.4:c.*2763G>T,uc011bke.2:c.*2763G>T)	ENSG00000173706(ENST00000311127:c.*2763G>T,ENST00000487661:c.*2763G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	47;1|3	Hom;C>A	106;0|5
N	N	-	3	124692689	124692689	C	T	snp	synonymous SNV	G3882A	P1294P	hydrophobic,neutral	hydrophobic,neutral	HEG1	Heg1	ENSG00000173706	heart development protein with EGF like domains 1	chr3:124684554-124774802		Tobacco Use Disorder; Eosinophils	Mice homozygous for a knock-out allele exhibit impaired integrity of the heart, blood vessels and lymphatic vessels, resulting in hemopericardium, lung hemorrhage, lymphangiectasis, and chylous ascites, as well as embryonic and postnatal lethality.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001885;endothelial cell development;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0003017;lymph circulation;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;IEA|GO:0009791;post-embryonic development;IEA|GO:0030324;lung development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050878;regulation of body fluid levels;IEA|GO:0055017;cardiac muscle tissue growth;IEA|GO:0060039;pericardium development;IEA|GO:0090271;positive regulation of fibroblast growth factor production;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HEG1			https://www.ncbi.nlm.nih.gov/omim/?term=614182	http://www.informatics.jax.org/searchtool/Search.do?query=HEG1&submit=Quick%0D%13415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEG1	rs2270778	0.704473	0.6693	0.6209	1	0	0	exonic	exonic	exonic	HEG1	HEG1	ENSG00000173706	synonymous SNV	synonymous SNV	unknown	HEG1:NM_020733:exon16:c.G3882A:p.P1294P,	HEG1:uc003ehs.4:exon16:c.G3882A:p.P1294P,HEG1:uc011bke.2:exon17:c.G4182A:p.P1394P,HEG1:uc003ehr.4:exon6:c.G444A:p.P148P,	UNKNOWN	Het;C>T	1432;100|74	Hom;C>T	4140;0|157
N	N	-	3	124692785	124692785	C	T	snp	intronic	 	 	 	 	HEG1	Heg1	ENSG00000173706	heart development protein with EGF like domains 1	chr3:124684554-124774802		Tobacco Use Disorder; Eosinophils	Mice homozygous for a knock-out allele exhibit impaired integrity of the heart, blood vessels and lymphatic vessels, resulting in hemopericardium, lung hemorrhage, lymphangiectasis, and chylous ascites, as well as embryonic and postnatal lethality.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001885;endothelial cell development;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0003017;lymph circulation;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;IEA|GO:0009791;post-embryonic development;IEA|GO:0030324;lung development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050878;regulation of body fluid levels;IEA|GO:0055017;cardiac muscle tissue growth;IEA|GO:0060039;pericardium development;IEA|GO:0090271;positive regulation of fibroblast growth factor production;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HEG1			https://www.ncbi.nlm.nih.gov/omim/?term=614182	http://www.informatics.jax.org/searchtool/Search.do?query=HEG1&submit=Quick%0D%13415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEG1	rs2270779	0.702875	0.6666	0.6195	1	0	0	intronic	intronic	intronic	HEG1	HEG1	ENSG00000173706	Na	Na	Na	Na	Na	Na	Het;C>T	609;30|27	Hom;C>T	1109;0|38
N	N	-	3	124728808	124728808	C	A	snp	intronic	 	 	 	 	HEG1	Heg1	ENSG00000173706	heart development protein with EGF like domains 1	chr3:124684554-124774802		Tobacco Use Disorder; Eosinophils	Mice homozygous for a knock-out allele exhibit impaired integrity of the heart, blood vessels and lymphatic vessels, resulting in hemopericardium, lung hemorrhage, lymphangiectasis, and chylous ascites, as well as embryonic and postnatal lethality.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001885;endothelial cell development;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0003017;lymph circulation;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;IEA|GO:0009791;post-embryonic development;IEA|GO:0030324;lung development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050878;regulation of body fluid levels;IEA|GO:0055017;cardiac muscle tissue growth;IEA|GO:0060039;pericardium development;IEA|GO:0090271;positive regulation of fibroblast growth factor production;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HEG1			https://www.ncbi.nlm.nih.gov/omim/?term=614182	http://www.informatics.jax.org/searchtool/Search.do?query=HEG1&submit=Quick%0D%13415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HEG1	rs12053844	0.109425	0	0	1	0	0	intronic	intronic	intronic	HEG1	HEG1	ENSG00000173706	Na	Na	Na	Na	Na	Na	Het;C>A	58;3|3	Hom;C>A	345;0|12
N	N	-	3	124803043	124803043	G	A	snp	intronic	 	 	 	 	SLC12A8	Slc12a8	ENSG00000221955	solute carrier family 12 member 8	chr3:124801480-124998021	This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]	Tobacco Use Disorder; psoriasis vulgaris; Triglycerides	Mice homozygous for a null allele exhibit some prenatal lethality and reduced NAD+ levels in the jejunum and ileum.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015293;symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;IBA|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A8			https://www.ncbi.nlm.nih.gov/omim/?term=611316	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A8&submit=Quick%0D%18440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A8	rs2981481	0.623602	0	0	1	0	0	intronic	intronic	intronic	SLC12A8	SLC12A8	ENSG00000221955	Na	Na	Na	Na	Na	Na	Het;G>A	155;2|7	Hom;G>A	164;0|5
N	N	-	3	125692141	125692141	G	A	snp	UTR3	*1067G>A	 	 	 	ROPN1B	Ropn1	ENSG00000114547	rhophilin associated tail protein 1B	chr3:125687987-125702297			Mice homozygous for a gene trap allele exhibit reduced sperm motility and reduced male fertility.		GO:0000910;cytokinesis;NAS|GO:0007266;Rho protein signal transduction;TAS|GO:0007283;spermatogenesis;NAS|GO:0007340;acrosome reaction;NAS|GO:0007342;fusion of sperm to egg plasma membrane;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030317;flagellated sperm motility;TAS	GO:0005737;cytoplasm;IDA|GO:0031514;motile cilium;IDA	GO:0005515;protein binding;IPI|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0042803;protein homodimerization activity;NAS|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ROPN1B	https://www.uniprot.org/uniprot/Q9BZX4			http://www.informatics.jax.org/searchtool/Search.do?query=ROPN1B&submit=Quick%0D%4478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROPN1B	rs7623293	0.672125	0	0	1	0	0	intronic	intronic	UTR3	ROPN1B	ROPN1B	ENSG00000114547(ENST00000504401:c.*1067G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1387;64|40	Hom;G>A	4680;0|127
N	N	-	3	125709351	125709351	T	C	snp	intergenic	 	 	 	 	ROPN1B	Ropn1	ENSG00000114547	rhophilin associated tail protein 1B	chr3:125687987-125702297			Mice homozygous for a gene trap allele exhibit reduced sperm motility and reduced male fertility.		GO:0000910;cytokinesis;NAS|GO:0007266;Rho protein signal transduction;TAS|GO:0007283;spermatogenesis;NAS|GO:0007340;acrosome reaction;NAS|GO:0007342;fusion of sperm to egg plasma membrane;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030317;flagellated sperm motility;TAS	GO:0005737;cytoplasm;IDA|GO:0031514;motile cilium;IDA	GO:0005515;protein binding;IPI|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0042803;protein homodimerization activity;NAS|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ROPN1B	https://www.uniprot.org/uniprot/Q9BZX4			http://www.informatics.jax.org/searchtool/Search.do?query=ROPN1B&submit=Quick%0D%4478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROPN1B	rs6764694	0.665136	0	0	1	0	0	intergenic	intergenic	intergenic	ROPN1B(dist=7055),SLC41A3(dist=15849)	ROPN1B(dist=7055),SLC41A3(dist=15849)	ENSG00000114547(dist=7054),ENSG00000114544(dist=15847)	Na	Na	Na	Na	Na	Na	Het;T>C	327;8|10	Hom;T>C	785;0|22
N	N	-	3	125726048	125726048	G	C	snp	synonymous SNV	C1275G	L425L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC41A3	Slc41a3	ENSG00000114544	solute carrier family 41 member 3	chr3:125725198-125820404			Mice homozygous for a knock-out allele exhibit altered magnesium ion homeostasis including hypomagnesemia. A subset of homozygotes develop severe unilateral hydronephrosis when fed a low magnesium diet.		GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC41A3	https://www.uniprot.org/uniprot/Q96GZ6		https://www.ncbi.nlm.nih.gov/omim/?term=610803	http://www.informatics.jax.org/searchtool/Search.do?query=SLC41A3&submit=Quick%0D%4477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC41A3	rs2279819	0.665735	0.7177	0.6096	1	0	0	exonic	exonic	exonic	SLC41A3	SLC41A3	ENSG00000114544	synonymous SNV	synonymous SNV	unknown	SLC41A3:NM_001008485:exon11:c.C1275G:p.L425L,SLC41A3:NM_001008486:exon10:c.C1167G:p.L389L,SLC41A3:NM_001164475:exon10:c.C924G:p.L308L,SLC41A3:NM_001008487:exon10:c.C1197G:p.L399L,SLC41A3:NM_017836:exon11:c.C1275G:p.L425L,	SLC41A3:uc003eil.3:exon11:c.C1275G:p.L425L,SLC41A3:uc003eii.3:exon10:c.C1197G:p.L399L,SLC41A3:uc003eik.3:exon10:c.C1167G:p.L389L,SLC41A3:uc003eij.3:exon11:c.C1275G:p.L425L,SLC41A3:uc011bkh.2:exon10:c.C924G:p.L308L,	UNKNOWN	Het;G>C	651;34|33	Hom;G>C	1314;0|46
N	N	-	3	125823355	125823355	G	C	snp	ncRNA_intronic	 	 	 	 	ALDH1L1-AS1																		rs4646757	0.594649	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ALDH1L1-AS1	ALDH1L1,ALDH1L1-AS1	ENSG00000250218	Na	Na	Na	Na	Na	Na	Het;G>C	76;5|3	Hom;G>C	113;0|5
N	N	-	3	125826914	125826914	T	C	snp	intronic	 	 	 	 	ALDH1L1	Aldh1l1	ENSG00000144908	aldehyde dehydrogenase 1 family member L1	chr3:125822412-125916837	The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]	drug-related genes ; chronic obstructive pulmonary disease; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; bladder cancer; Mortality; prostate cancer; Hemoglobins; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Blood Pressure; lung cancer; Spinal Dysraphism; breast cancer; Acquired Immunodeficiency Syndrome|Disease Progression; colorectal cancer; Echocardiography; hypertension; esophageal adenocarcinoma; lymphoma, non-Hodgkin; Schizophrenia; Cleft Lip|Cleft Palate; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a null allele exhibit folate deficiency and impaired glycine metabolism with a decrease in glycine and glycine conjugates in the liver.	Metabolism of folate and pterines	GO:0006730;one-carbon metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0009258;10-formyltetrahydrofolate catabolic process;TAS|GO:0046655;folic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;EXP|GO:0016155;formyltetrahydrofolate dehydrogenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016742;hydroxymethyl-, formyl- and related transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1L1	https://www.uniprot.org/uniprot/O75891		https://www.ncbi.nlm.nih.gov/omim/?term=600249	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1L1&submit=Quick%0D%8681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1L1	rs3772431	0.623602	0	0	1	0	0	intronic	intronic	intronic	ALDH1L1	ALDH1L1	ENSG00000144908	Na	Na	Na	Na	Na	Na	Het;T>C	263;11|11	Hom;T>C	770;0|24
N	N	-	3	126160884	126160888	CATTA	C	indel	intronic	 	 	 	 	ZXDC	Zxdc	ENSG00000070476	ZXD family zinc finger C	chr3:126156444-126194762		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0030275;LRR domain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZXDC	https://www.uniprot.org/uniprot/Q2QGD7		https://www.ncbi.nlm.nih.gov/omim/?term=615746	http://www.informatics.jax.org/searchtool/Search.do?query=ZXDC&submit=Quick%0D%1358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZXDC	rs375720300	0.413738	0	0	1	0	0	intronic	intronic	intronic	ZXDC	ZXDC	ENSG00000070476	Na	Na	Na	Na	Na	Na	Het;-ATTA	462;9|13	Hom;-ATTA	548;0|13
N	N	-	3	126180121	126180121	C	T	snp	UTR3	*251G>A	 	 	 	ZXDC	Zxdc	ENSG00000070476	ZXD family zinc finger C	chr3:126156444-126194762		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0030275;LRR domain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZXDC	https://www.uniprot.org/uniprot/Q2QGD7		https://www.ncbi.nlm.nih.gov/omim/?term=615746	http://www.informatics.jax.org/searchtool/Search.do?query=ZXDC&submit=Quick%0D%1358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZXDC	rs3231	0.454073	0	0	1	0	0	UTR3	UTR3	UTR3	ZXDC(NM_001040653:c.*251G>A)	ZXDC(uc003eix.2:c.*251G>A)	ENSG00000070476(ENST00000515545:c.*251G>A,ENST00000336332:c.*251G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	512;33|22	Hom;C>T	1041;0|39
N	N	-	3	126184941	126184941	C	T	snp	intronic	 	 	 	 	ZXDC	Zxdc	ENSG00000070476	ZXD family zinc finger C	chr3:126156444-126194762		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0030275;LRR domain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZXDC	https://www.uniprot.org/uniprot/Q2QGD7		https://www.ncbi.nlm.nih.gov/omim/?term=615746	http://www.informatics.jax.org/searchtool/Search.do?query=ZXDC&submit=Quick%0D%1358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZXDC	rs1799389	0.454073	0	0	1	0	0	intronic	intronic	intronic	ZXDC	ZXDC	ENSG00000070476	Na	Na	Na	Na	Na	Na	Het;C>T	168;8|8	Hom;C>T	550;0|20
N	N	-	3	126185238	126185238	C	T	snp	intronic	 	 	 	 	ZXDC	Zxdc	ENSG00000070476	ZXD family zinc finger C	chr3:126156444-126194762		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0030275;LRR domain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZXDC	https://www.uniprot.org/uniprot/Q2QGD7		https://www.ncbi.nlm.nih.gov/omim/?term=615746	http://www.informatics.jax.org/searchtool/Search.do?query=ZXDC&submit=Quick%0D%1358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZXDC	rs1687463	0.545128	0	0	1	0	0	intronic	intronic	intronic	ZXDC	ZXDC	ENSG00000070476	Na	Na	Na	Na	Na	Na	Het;C>T	438;4|17	Hom;C>T	301;0|11
N	N	-	3	126189919	126189919	A	G	snp	intronic	 	 	 	 	ZXDC	Zxdc	ENSG00000070476	ZXD family zinc finger C	chr3:126156444-126194762		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0030275;LRR domain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZXDC	https://www.uniprot.org/uniprot/Q2QGD7		https://www.ncbi.nlm.nih.gov/omim/?term=615746	http://www.informatics.jax.org/searchtool/Search.do?query=ZXDC&submit=Quick%0D%1358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZXDC	rs777499	0.590455	0.6219	0.6565	1	0	0	intronic	intronic	intronic	ZXDC	ZXDC	ENSG00000070476	Na	Na	Na	Na	Na	Na	Het;A>G	535;18|22	Hom;A>G	779;0|27
N	N	-	3	126194076	126194076	T	C	snp	synonymous SNV	A633G	P211P	hydrophobic,neutral	hydrophobic,neutral	ZXDC	Zxdc	ENSG00000070476	ZXD family zinc finger C	chr3:126156444-126194762		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0030275;LRR domain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ZXDC	https://www.uniprot.org/uniprot/Q2QGD7		https://www.ncbi.nlm.nih.gov/omim/?term=615746	http://www.informatics.jax.org/searchtool/Search.do?query=ZXDC&submit=Quick%0D%1358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZXDC	rs812367	0.547324	0.5794	0.6771	1	0	0	exonic	exonic	exonic	ZXDC	ZXDC	ENSG00000070476	synonymous SNV	synonymous SNV	unknown	ZXDC:NM_001040653:exon1:c.A633G:p.P211P,ZXDC:NM_025112:exon1:c.A633G:p.P211P,	ZXDC:uc003eiv.3:exon1:c.A633G:p.P211P,ZXDC:uc003eix.2:exon1:c.A633G:p.P211P,	UNKNOWN	Het;T>C	925;64|46	Hom;T>C	2301;0|83
N	N	-	3	126208249	126208249	A	C	snp	intronic	 	 	 	 	UROC1	Uroc1	ENSG00000159650	urocanate hydratase 1	chr3:126200124-126236616	This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	UROCANASE DEFICIENCY	 	Histidine catabolism	GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA	GO:0005829;cytosol;TAS	GO:0016153;urocanate hydratase activity;IDA|GO:0016829;lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROC1		https://hpo.jax.org/app/browse/search?q=UROC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613012	http://www.informatics.jax.org/searchtool/Search.do?query=UROC1&submit=Quick%0D%10359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROC1	rs777479	0.491613	0.4912	0.5576	1	0	0	intronic	intronic	intronic	UROC1	UROC1	ENSG00000159650	Na	Na	Na	Na	Na	Na	Het;A>C	795;19|38	Hom;A>C	1192;0|41
N	N	-	3	126227185	126227185	G	A	snp	intronic	 	 	 	 	UROC1	Uroc1	ENSG00000159650	urocanate hydratase 1	chr3:126200124-126236616	This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	UROCANASE DEFICIENCY	 	Histidine catabolism	GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA	GO:0005829;cytosol;TAS	GO:0016153;urocanate hydratase activity;IDA|GO:0016829;lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROC1		https://hpo.jax.org/app/browse/search?q=UROC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613012	http://www.informatics.jax.org/searchtool/Search.do?query=UROC1&submit=Quick%0D%10359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROC1	rs16837531	0.558307	0	0	1	0	0	intronic	intronic	intronic	UROC1	UROC1	ENSG00000159650	Na	Na	Na	Na	Na	Na	Het;G>A	141;6|8	Hom;G>A	421;0|16
N	N	-	3	126228410	126228410	G	A	snp	intronic	 	 	 	 	UROC1	Uroc1	ENSG00000159650	urocanate hydratase 1	chr3:126200124-126236616	This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]	UROCANASE DEFICIENCY	 	Histidine catabolism	GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA	GO:0005829;cytosol;TAS	GO:0016153;urocanate hydratase activity;IDA|GO:0016829;lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UROC1		https://hpo.jax.org/app/browse/search?q=UROC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613012	http://www.informatics.jax.org/searchtool/Search.do?query=UROC1&submit=Quick%0D%10359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UROC1	rs729456	0.430312	0.4314	0.5335	1	0	0	intronic	intronic	intronic	UROC1	UROC1	ENSG00000159650	Na	Na	Na	Na	Na	Na	Het;G>A	268;18|14	Hom;G>A	857;0|31
N	N	-	3	126247848	126247848	C	T	snp	intronic	 	 	 	 	CHST13	Chst13	ENSG00000180767	carbohydrate sulfotransferase 13	chr3:126243126-126262134	The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]	Chronic renal failure|Kidney Failure, Chronic; Malaria, Falciparum|Placenta Diseases|Pregnancy Complications, Parasitic	 	Chondroitin sulfate biosynthesis	GO:0005975;carbohydrate metabolic process;IEA|GO:0016051;carbohydrate biosynthetic process;IEA|GO:0030206;chondroitin sulfate biosynthetic process;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001537;N-acetylgalactosamine 4-O-sulfotransferase activity;IDA|GO:0008146;sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0047756;chondroitin 4-sulfotransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CHST13			https://www.ncbi.nlm.nih.gov/omim/?term=610124	http://www.informatics.jax.org/searchtool/Search.do?query=CHST13&submit=Quick%0D%14520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST13	rs11718493	0.505591	0	0	1	0	0	intronic	intronic	intronic	CHST13	CHST13	ENSG00000180697,ENSG00000180767	Na	Na	Na	Na	Na	Na	Het;C>T	116;4|5	Hom;C>T	128;0|6
N	N	-	3	126268953	126268953	T	G	snp	intronic	 	 	 	 	C3orf22	BC048671	ENSG00000180697	chromosome 3 open reading frame 22	chr3:126245842-126277808			 					http://www.genecards.org/index.php?path=/Search/keyword/C3orf22				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf22&submit=Quick%0D%14513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf22	rs869464	0.465256	0.4844	0.5562	1	0	0	intronic	intronic	intronic	C3orf22	C3orf22	ENSG00000180697	Na	Na	Na	Na	Na	Na	Het;T>G	644;32|32	Hom;T>G	1610;0|60
N	N	-	3	126277599	126277599	A	G	snp	UTR5	-5366T>C	 	 	 	C3orf22	BC048671	ENSG00000180697	chromosome 3 open reading frame 22	chr3:126245842-126277808			 					http://www.genecards.org/index.php?path=/Search/keyword/C3orf22				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf22&submit=Quick%0D%14513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf22	rs12488648	0.526558	0	0	1	0	0	UTR5	UTR5	UTR5	C3orf22(NM_152533:c.-5366T>C)	C3orf22(uc003ejb.3:c.-5366T>C)	ENSG00000180697(ENST00000505070:c.-5366T>C,ENST00000318225:c.-5366T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1179;35|48	Hom;A>G	1594;0|60
N	N	-	3	12660291	12660291	C	T	snp	intronic	 	 	 	 	RAF1	Raf1	ENSG00000132155	Raf-1 proto-oncogene, serine/threonine kinase	chr3:12625100-12705725	This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]	cognitive ability; Cardiomegaly; Articulation Disorders|Dyslexia, Acquired|Language Disorders|Noonan Syndrome|Turner's phenotype, karyotype normal; Carcinoma, Medullary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; Arrhythmias, Cardiac|Hypertrophy, Left Ventricular|LEOPARD Syndrome; Noonan Syndrome; thyroid cancer; Cholesterol; plasma HDL cholesterol (HDL-C) levels; Abnormalities, Multiple|Heart Defects, Congenital|LEOPARD Syndrome|Noonan Syndrome|Skin Abnormalities; Glioma|Noonan Syndrome|Turner's phenotype, karyotype normal; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations are growth retarded, with hypocellular fetal livers, placental anomalies, and defects of skin and lungs, resulting in lethality around mid-gestation. Mice heterozygous for a knock-in allele exhibit hypertrophic cardiomyopathy.	Paradoxical activation of RAF signaling by kinase inactive BRAF	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IDA|GO:0001666;response to hypoxia;IEA|GO:0001678;cellular glucose homeostasis;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;TAS|GO:0007190;activation of adenylate cyclase activity;NAS|GO:0007275;multicellular organism development;IBA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;TAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009968;negative regulation of signal transduction;IBA|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0030168;platelet activation;TAS|GO:0030878;thyroid gland development;IEA|GO:0031333;negative regulation of protein complex assembly;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035023;regulation of Rho protein signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0035994;response to muscle stretch;IEA|GO:0042060;wound healing;TAS|GO:0042981;regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0045595;regulation of cell differentiation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048538;thymus development;IEA|GO:0060324;face development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071550;death-inducing signaling complex assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:2000145;regulation of cell motility;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005794;Golgi apparatus;IPI|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0031143;pseudopodium;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;IBA|GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0019899;enzyme binding;IPI|GO:0031434;mitogen-activated protein kinase kinase binding;IBA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAF1	https://www.uniprot.org/uniprot/P04049	https://hpo.jax.org/app/browse/search?q=RAF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164760	http://www.informatics.jax.org/searchtool/Search.do?query=RAF1&submit=Quick%0D%6629ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAF1	rs3729926	0.91254	0	0	1	0	0	intronic	intronic	intronic	RAF1	RAF1	ENSG00000132155	Na	Na	Na	Na	Na	Na	Het;C>T	250;25|15	Hom;C>T	1126;0|41
N	N	-	3	126940553	126940553	A	G	snp	ncRNA_exonic	 	 	 	 	AC112482.1																		rs13098759	0.807907	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C3orf56(dist=23526),LOC101927123(dist=100597)	C3orf56(dist=23528),BC015846(dist=100597)	ENSG00000243016	Na	Na	Na	Na	Na	Na	Het;A>G	66;6|3	Hom;A>G	311;0|13
N	N	-	3	127736084	127736084	T	C	snp	intergenic	 	 	 	 	KBTBD12	Kbtbd12	ENSG00000187715	kelch repeat and BTB domain containing 12	chr3:127634075-127706514		Tobacco Use Disorder	 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KBTBD12				http://www.informatics.jax.org/searchtool/Search.do?query=KBTBD12&submit=Quick%0D%15879ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KBTBD12	rs9827173	0.211062	0	0	1	0	0	intergenic	intergenic	intergenic	KBTBD12(dist=29570),SEC61A1(dist=35128)	KBTBD12(dist=29570),SEC61A1(dist=35128)	ENSG00000187715(dist=29570),ENSG00000058262(dist=34400)	Na	Na	Na	Na	Na	Na	Het;T>C	50;2|3	Hom;T>C	173;0|5
N	N	-	3	127774722	127774722	A	G	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs6802633	0.215655	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	SEC61A1	ENSG00000058262	Na	Na	Na	Na	Na	Na	Het;A>G	110;10|4	Hom;A>G	737;0|17
N	N	-	3	127774723	127774723	A	C	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs55662362	0.215655	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	SEC61A1	ENSG00000058262	Na	Na	Na	Na	Na	Na	Het;A>C	110;10|4	Hom;A>C	737;0|17
N	N	-	3	127775480	127775480	G	T	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs9827668	0.200679	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	SEC61A1	ENSG00000058262	Na	Na	Na	Na	Na	Na	Het;G>T	154;11|6	Hom;G>T	671;0|24
N	N	-	3	127775499	127775499	C	T	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs9827421	0.200679	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	SEC61A1	ENSG00000058262	Na	Na	Na	Na	Na	Na	Het;C>T	207;19|9	Hom;C>T	805;0|28
N	N	-	3	127779220	127779220	C	T	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs9848345	0.200679	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	SEC61A1	ENSG00000058262	Na	Na	Na	Na	Na	Na	Het;C>T	123;5|5	Hom;C>T	565;0|16
N	N	-	3	127779306	127779306	G	A	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs2304018	0.200679	0.2515	0.2293	1	0	0	intronic	intronic	intronic	SEC61A1	SEC61A1	ENSG00000058262	Na	Na	Na	Na	Na	Na	Het;G>A	521;28|24	Hom;G>A	1503;2|57
N	N	-	3	127779693	127779693	A	C	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs9289325	0.200679	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	SEC61A1	ENSG00000058262	Na	Na	Na	Na	Na	Na	Het;A>C	44;2|2	Hom;A>C	143;0|4
N	N	-	3	127783698	127783698	A	T	snp	UTR3	*640T>A	 	 	 	RUVBL1	Ruvbl1	ENSG00000175792	RuvB like AAA ATPase 1	chr3:127783621-127872757	This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	ovarian cancer 	Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells.	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0051301;cell division;IEA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031011;Ino80 complex;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0071339;MLL1 complex;IDA|GO:0097255;R2TP complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001094;TFIID-class transcription factor binding;IEA|GO:0003678;DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IEA|GO:0043531;ADP binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RUVBL1			https://www.ncbi.nlm.nih.gov/omim/?term=603449	http://www.informatics.jax.org/searchtool/Search.do?query=RUVBL1&submit=Quick%0D%13756ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RUVBL1	rs1044843	0.200679	0.2514	0.2297	1	0	0	intronic	UTR3	UTR3	SEC61A1	RUVBL1(uc003ekf.3:c.*357T>A)	ENSG00000175792(ENST00000585057:c.*640T>A,ENST00000472125:c.*173T>A,ENST00000464873:c.*357T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	973;28|40	Hom;A>T	1349;2|52
N	N	-	3	127784118	127784118	T	C	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs13070488	0.200679	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	RUVBL1,SEC61A1	ENSG00000058262,ENSG00000175792	Na	Na	Na	Na	Na	Na	Het;T>C	105;12|7	Hom;T>C	664;0|25
N	N	-	3	127786551	127786551	G	A	snp	intronic	 	 	 	 	SEC61A1	Sec61a1	ENSG00000058262	Sec61 translocon alpha 1 subunit	chr3:127770484-127790526	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]	Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia	Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet.	XBP1(S) activates chaperone genes	GO:0006614;SRP-dependent cotranslational protein targeting to membrane;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IMP|GO:0015031;protein transport;IEA|GO:0016049;cell growth;IMP|GO:0034341;response to interferon-gamma;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0039019;pronephric nephron development;ISS|GO:0045047;protein targeting to ER;ISS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SEC61A1	https://www.uniprot.org/uniprot/P61619	https://hpo.jax.org/app/browse/search?q=SEC61A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609213	http://www.informatics.jax.org/searchtool/Search.do?query=SEC61A1&submit=Quick%0D%1031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC61A1	rs9858267	0.200679	0	0	1	0	0	intronic	intronic	intronic	SEC61A1	RUVBL1,SEC61A1	ENSG00000058262,ENSG00000175792	Na	Na	Na	Na	Na	Na	Het;G>A	90;8|5	Hom;G>A	579;0|19
N	N	-	3	127794654	127794654	C	G	snp	ncRNA_exonic	 	 	 	 	RUVBL1-AS1																		rs67786346	0.201078	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	RUVBL1-AS1	RUVBL1	ENSG00000239608	Na	Na	Na	Na	Na	Na	Het;C>G	634;23|25	Hom;C>G	1874;1|54
N	N	-	3	127797508	127797508	A	AT	indel	ncRNA_intronic	 	 	 	 	RUVBL1-AS1																		rs11458310	0.191494	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	RUVBL1-AS1	RUVBL1	ENSG00000239608	Na	Na	Na	Na	Na	Na	Het;+T	91;3|4	Hom;+T	206;0|7
N	N	-	3	127797793	127797793	T	C	snp	ncRNA_exonic	 	 	 	 	RUVBL1-AS1																		rs9833276	0.203874	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	RUVBL1-AS1	RUVBL1	ENSG00000239608	Na	Na	Na	Na	Na	Na	Het;T>C	2457;61|64	Hom;T>C	3932;0|88
N	N	-	3	127797796	127797796	C	G	snp	ncRNA_exonic	 	 	 	 	RUVBL1-AS1																		rs9813438	0.191494	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	RUVBL1-AS1	RUVBL1	ENSG00000239608	Na	Na	Na	Na	Na	Na	Het;C>G	2410;62|63	Hom;C>G	4031;0|92
N	N	-	3	127797890	127797890	A	G	snp	ncRNA_exonic	 	 	 	 	RUVBL1-AS1																		rs9854763	0.203874	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	RUVBL1-AS1	RUVBL1	ENSG00000239608	Na	Na	Na	Na	Na	Na	Het;A>G	1289;59|56	Hom;A>G	2731;1|102
N	N	-	3	127799983	127799983	A	C	snp	UTR3	*110T>G	 	 	 	RUVBL1	Ruvbl1	ENSG00000175792	RuvB like AAA ATPase 1	chr3:127783621-127872757	This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	ovarian cancer 	Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells.	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0051301;cell division;IEA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031011;Ino80 complex;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0071339;MLL1 complex;IDA|GO:0097255;R2TP complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001094;TFIID-class transcription factor binding;IEA|GO:0003678;DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IEA|GO:0043531;ADP binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RUVBL1			https://www.ncbi.nlm.nih.gov/omim/?term=603449	http://www.informatics.jax.org/searchtool/Search.do?query=RUVBL1&submit=Quick%0D%13756ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RUVBL1	rs1057220	0.196286	0	0	1	0	0	UTR3	UTR3	UTR3	RUVBL1(NM_003707:c.*110T>G)	RUVBL1(uc003ekh.3:c.*110T>G,uc010hss.3:c.*228T>G)	ENSG00000175792(ENST00000322623:c.*110T>G,ENST00000417360:c.*228T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	232;4|7	Hom;A>C	474;0|13
N	N	-	3	127800071	127800071	A	G	snp	UTR3	*22T>C	 	 	 	RUVBL1	Ruvbl1	ENSG00000175792	RuvB like AAA ATPase 1	chr3:127783621-127872757	This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	ovarian cancer 	Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells.	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0051301;cell division;IEA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031011;Ino80 complex;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0071339;MLL1 complex;IDA|GO:0097255;R2TP complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001094;TFIID-class transcription factor binding;IEA|GO:0003678;DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IEA|GO:0043531;ADP binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RUVBL1			https://www.ncbi.nlm.nih.gov/omim/?term=603449	http://www.informatics.jax.org/searchtool/Search.do?query=RUVBL1&submit=Quick%0D%13756ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RUVBL1	rs1057156	0.20028	0.2516	0.2323	1	0	0	UTR3	UTR3	UTR3	RUVBL1(NM_003707:c.*22T>C)	RUVBL1(uc003ekh.3:c.*22T>C,uc010hss.3:c.*140T>C)	ENSG00000175792(ENST00000322623:c.*22T>C,ENST00000417360:c.*140T>C,ENST00000478892:c.*22T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	589;44|29	Hom;A>G	1677;0|58
N	N	-	3	127801198	127801198	C	T	snp	intronic	 	 	 	 	RUVBL1	Ruvbl1	ENSG00000175792	RuvB like AAA ATPase 1	chr3:127783621-127872757	This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	ovarian cancer 	Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells.	Deposition of new CENPA-containing nucleosomes at the centromere	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0051301;cell division;IEA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031011;Ino80 complex;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0071339;MLL1 complex;IDA|GO:0097255;R2TP complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001094;TFIID-class transcription factor binding;IEA|GO:0003678;DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IEA|GO:0043531;ADP binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RUVBL1			https://www.ncbi.nlm.nih.gov/omim/?term=603449	http://www.informatics.jax.org/searchtool/Search.do?query=RUVBL1&submit=Quick%0D%13756ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RUVBL1	rs6796874	0.200679	0	0	1	0	0	intronic	intronic	intronic	RUVBL1	RUVBL1	ENSG00000175792	Na	Na	Na	Na	Na	Na	Het;C>T	49;6|3	Hom;C>T	145;0|5
N	N	-	3	127918955	127918955	C	T	snp	intronic	 	 	 	 	EEFSEC	Eefsec	ENSG00000132394	eukaryotic elongation factor, selenocysteine-tRNA specific	chr3:127872297-128127485		Heart Failure; Menarche; Tobacco Use Disorder; Prostatic Neoplasms; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression	 	Selenocysteine synthesis	GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA|GO:0035368;selenocysteine insertion sequence binding;IEA|GO:0043021;ribonucleoprotein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EEFSEC	https://www.uniprot.org/uniprot/P57772		https://www.ncbi.nlm.nih.gov/omim/?term=607695	http://www.informatics.jax.org/searchtool/Search.do?query=EEFSEC&submit=Quick%0D%6664ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EEFSEC	rs2687720	0.504593	0	0	1	0	0	intronic	intronic	intronic	EEFSEC	EEFSEC	ENSG00000132394	Na	Na	Na	Na	Na	Na	Het;C>T	67;1|3	Hom;C>T	57;0|3
N	N	-	3	128720487	128720487	A	G	snp	nonsynonymous SNV	A16G	T6A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	EFCC1	Efcc1	ENSG00000114654	EF-hand and coiled-coil domain containing 1	chr3:128720472-128759585			 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCC1	https://www.uniprot.org/uniprot/Q9HA90			http://www.informatics.jax.org/searchtool/Search.do?query=EFCC1&submit=Quick%0D%4487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCC1	rs1871951	0.695487	0	0.6770	0.11	1	9	exonic	exonic	exonic	EFCC1	EFCC1	ENSG00000114654	nonsynonymous SNV	nonsynonymous SNV	unknown	EFCC1:NM_024768:exon1:c.A16G:p.T6A,	EFCC1:uc011bkt.2:exon1:c.A16G:p.T6A,	UNKNOWN	Het;A>G	102;4|5	Hom;A>G	210;0|8
N	N	-	3	128755814	128755814	T	C	snp	intronic	 	 	 	 	EFCC1	Efcc1	ENSG00000114654	EF-hand and coiled-coil domain containing 1	chr3:128720472-128759585			 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCC1	https://www.uniprot.org/uniprot/Q9HA90			http://www.informatics.jax.org/searchtool/Search.do?query=EFCC1&submit=Quick%0D%4487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCC1	rs3732429	0.615615	0.5743	0.5273	1	0	0	intronic	intronic	intronic	EFCC1	EFCC1	ENSG00000114654	Na	Na	Na	Na	Na	Na	Het;T>C	341;29|16	Hom;T>C	1577;0|59
N	N	-	3	128755953	128755953	G	A	snp	nonsynonymous SNV	G1583A	R528Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	EFCC1	Efcc1	ENSG00000114654	EF-hand and coiled-coil domain containing 1	chr3:128720472-128759585			 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCC1	https://www.uniprot.org/uniprot/Q9HA90			http://www.informatics.jax.org/searchtool/Search.do?query=EFCC1&submit=Quick%0D%4487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCC1	rs3732430	0.323083	0.4017	0.3994	0.60	6	10	exonic	exonic	exonic	EFCC1	EFCC1	ENSG00000114654	nonsynonymous SNV	nonsynonymous SNV	unknown	EFCC1:NM_024768:exon6:c.G1583A:p.R528Q,	EFCC1:uc011bkt.2:exon6:c.G1583A:p.R528Q,	UNKNOWN	Het;G>A	391;38|22	Hom;G>A	2438;0|93
N	N	-	3	128755971	128755971	G	A	snp	intronic	 	 	 	 	EFCC1	Efcc1	ENSG00000114654	EF-hand and coiled-coil domain containing 1	chr3:128720472-128759585			 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCC1	https://www.uniprot.org/uniprot/Q9HA90			http://www.informatics.jax.org/searchtool/Search.do?query=EFCC1&submit=Quick%0D%4487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCC1	rs3732431	0.322883	0.3923	0.3967	1	0	0	intronic	intronic	intronic	EFCC1	EFCC1	ENSG00000114654	Na	Na	Na	Na	Na	Na	Het;G>A	467;33|24	Hom;G>A	2168;0|81
N	N	-	3	128757560	128757560	C	G	snp	intronic	 	 	 	 	EFCC1	Efcc1	ENSG00000114654	EF-hand and coiled-coil domain containing 1	chr3:128720472-128759585			 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCC1	https://www.uniprot.org/uniprot/Q9HA90			http://www.informatics.jax.org/searchtool/Search.do?query=EFCC1&submit=Quick%0D%4487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCC1	rs2306529	0.48722	0	0	1	0	0	intronic	intronic	intronic	EFCC1	EFCC1	ENSG00000114654	Na	Na	Na	Na	Na	Na	Het;C>G	142;7|6	Hom;C>G	170;0|5
N	N	-	3	129020778	129020778	A	G	snp	intronic	 	 	 	 	HMCES	Hmces	ENSG00000183624	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	chr3:128997671-129025029			Homozygous knockout leads to changes in DNA methylation, resulting in an altered embryonic gene expression profile and embryonic sub-lethality (lower embryonic survival).		GO:0006508;proteolysis;IEA		GO:0003677;DNA binding;IEA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCES				http://www.informatics.jax.org/searchtool/Search.do?query=HMCES&submit=Quick%0D%15026ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCES	rs6765930	0.809704	0.8211	0.7957	1	0	0	intronic	intronic	intronic	HMCES	C3orf37	ENSG00000183624	Na	Na	Na	Na	Na	Na	Het;A>G	494;31|22	Hom;A>G	1464;0|48
N	N	-	3	129035485	129035485	A	G	snp	ncRNA_exonic	 	 	 	 	H1FX-AS1																		rs4073154	0.809704	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	H1FX-AS1	H1FX-AS1	ENSG00000206417	Na	Na	Na	Na	Na	Na	Het;A>G	822;55|36	Hom;A>G	1979;0|73
N	N	-	3	129043025	129043025	G	C	snp	ncRNA_exonic	 	 	 	 	H1FX-AS1																		rs9858960	0.862021	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	H1FX-AS1	H1FX-AS1	ENSG00000206417	Na	Na	Na	Na	Na	Na	Het;G>C	526;36|29	Hom;G>C	1037;0|35
N	N	-	3	129740598	129740598	C	T	snp	ncRNA_exonic	 	 	 	 	OR7E129P																		rs2953780	0.509385	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TRH(dist=43817),ALG1L2(dist=60076)	TRH(dist=43817),ALG1L2(dist=60076)	ENSG00000180770	Na	Na	Na	Na	Na	Na	Het;C>T	369;28|18	Hom;C>T	1254;0|47
N	N	-	3	129740831	129740831	T	A	snp	ncRNA_exonic	 	 	 	 	OR7E129P																		rs2976153	0.882388	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TRH(dist=44050),ALG1L2(dist=59843)	TRH(dist=44050),ALG1L2(dist=59843)	ENSG00000180770	Na	Na	Na	Na	Na	Na	Het;T>A	525;77|30	Hom;T>A	2826;0|104
N	N	-	3	129744888	129744888	A	G	snp	intergenic	 	 	 	 	OR7E129P																		rs13079961	0.564696	0	0	1	0	0	intergenic	intergenic	intergenic	TRH(dist=48107),ALG1L2(dist=55786)	TRH(dist=48107),ALG1L2(dist=55786)	ENSG00000180770(dist=3525),ENSG00000263767(dist=7413)	Na	Na	Na	Na	Na	Na	Het;A>G	123;4|7	Hom;A>G	500;0|19
N	N	-	3	129745095	129745095	A	G	snp	intergenic	 	 	 	 	OR7E129P																		rs4629378	0.883786	0	0	1	0	0	intergenic	intergenic	intergenic	TRH(dist=48314),ALG1L2(dist=55579)	TRH(dist=48314),ALG1L2(dist=55579)	ENSG00000180770(dist=3732),ENSG00000263767(dist=7206)	Na	Na	Na	Na	Na	Na	Het;A>G	96;5|4	Hom;A>G	200;0|8
N	N	-	3	130368069	130368069	A	G	snp	nonsynonymous SNV	A5396G	H1799R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	COL6A6	Col6a6	ENSG00000206384	collagen type VI alpha 6 chain	chr3:130279178-130396999			 	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA		http://www.genecards.org/index.php?path=/Search/keyword/COL6A6			https://www.ncbi.nlm.nih.gov/omim/?term=616613	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A6&submit=Quick%0D%17673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A6	rs7614116	0.572085	0.4304	0.4830	0.25	3	12	exonic	exonic	exonic	COL6A6	COL6A6	ENSG00000206384	nonsynonymous SNV	nonsynonymous SNV	unknown	COL6A6:NM_001102608:exon32:c.A5396G:p.H1799R,	COL6A6:uc010htl.3:exon32:c.A5396G:p.H1799R,	UNKNOWN	Het;A>G	1223;74|56	Hom;A>G	3387;0|120
N	N	-	3	130546582	130546582	T	C	snp	ncRNA_exonic	 	 	 	 	GSTO3P																		rs10934962	0.84385	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PIK3R4(dist=80886),ATP2C1(dist=22787)	PIK3R4(dist=80886),ATP2C1(dist=22787)	ENSG00000232829	Na	Na	Na	Na	Na	Na	Het;T>C	360;11|17	Hom;T>C	1010;0|33
N	N	-	3	130547086	130547086	A	C	snp	ncRNA_exonic	 	 	 	 	GSTO3P																		rs4487219	0.820687	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PIK3R4(dist=81390),ATP2C1(dist=22283)	PIK3R4(dist=81390),ATP2C1(dist=22283)	ENSG00000232829	Na	Na	Na	Na	Na	Na	Het;A>C	147;12|9	Hom;A>C	719;0|27
N	N	-	3	131664611	131664611	A	G	snp	intronic	 	 	 	 	CPNE4	Cpne4	ENSG00000196353	copine 4	chr3:131252399-132004254	This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Fibrinogen; Body Mass Index; Uric Acid; Echocardiography; Lipoprotein(a); smoking cessation; Asthma; Body Weight; Tobacco Use Disorder; Hip; Electrocardiography; Myocardial Infarction; Iron; Neutrophils; Triglycerides	 			GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CPNE4			https://www.ncbi.nlm.nih.gov/omim/?term=604208	http://www.informatics.jax.org/searchtool/Search.do?query=CPNE4&submit=Quick%0D%16330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE4	rs1381076	0.167931	0	0	1	0	0	intronic	intronic	intronic	CPNE4	CPNE4	ENSG00000196353	Na	Na	Na	Na	Na	Na	Het;A>G	117;4|4	Hom;A>G	113;0|5
N	N	-	3	133614517	133614517	C	A	snp	UTR5	-207G>T	 	 	 	RAB6B	Rab6b	ENSG00000154917	RAB6B, member RAS oncogene family	chr3:133543083-133614680		Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	Homozygous mutation of this gene results in growth retardation and multiple behavioral and immunological abnormalities.	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;NAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IBA	GO:0000139;Golgi membrane;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;NAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0031489;myosin V binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB6B	https://www.uniprot.org/uniprot/Q9NRW1		https://www.ncbi.nlm.nih.gov/omim/?term=615852	http://www.informatics.jax.org/searchtool/Search.do?query=RAB6B&submit=Quick%0D%9820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB6B	rs9811568	0.442492	0	0	1	0	0	UTR5	UTR5	UTR5	RAB6B(NM_016577:c.-207G>T)	RAB6B(uc003epy.3:c.-207G>T,uc011blu.1:c.-10108G>T)	ENSG00000154917(ENST00000285208:c.-207G>T,ENST00000460865:c.-54043G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	96;2|6	Hom;C>A	398;0|15
N	N	-	3	133661684	133661684	C	T	snp	intronic	 	 	 	 	SLCO2A1	Slco2a1	ENSG00000174640	solute carrier organic anion transporter family member 2A1	chr3:133651540-133771028	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]	Hyperparathyroidism, Secondary; hyperbilirubinemia	Mice homozygous for a knock-out allele exhibit preinatel or early psotnatal lethality due to a patent ductus arteriosus and abnormal protaglandin metabolism.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006869;lipid transport;TAS|GO:0015732;prostaglandin transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0015132;prostaglandin transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO2A1		https://hpo.jax.org/app/browse/search?q=SLCO2A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601460	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO2A1&submit=Quick%0D%13556ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO2A1	rs35473313	0.0720847	0	0	1	0	0	intronic	intronic	intronic	SLCO2A1	SLCO2A1	ENSG00000174640	Na	Na	Na	Na	Na	Na	Het;C>T	97;4|5	Hom;C>T	154;0|6
N	N	-	3	133673711	133673711	C	T	snp	intronic	 	 	 	 	SLCO2A1	Slco2a1	ENSG00000174640	solute carrier organic anion transporter family member 2A1	chr3:133651540-133771028	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]	Hyperparathyroidism, Secondary; hyperbilirubinemia	Mice homozygous for a knock-out allele exhibit preinatel or early psotnatal lethality due to a patent ductus arteriosus and abnormal protaglandin metabolism.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006869;lipid transport;TAS|GO:0015732;prostaglandin transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0015132;prostaglandin transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO2A1		https://hpo.jax.org/app/browse/search?q=SLCO2A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601460	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO2A1&submit=Quick%0D%13556ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO2A1	rs9881514	0.0716853	0	0	1	0	0	intronic	intronic	intronic	SLCO2A1	SLCO2A1	ENSG00000174640	Na	Na	Na	Na	Na	Na	Het;C>T	106;2|5	Hom;C>T	125;0|5
N	N	-	3	133749170	133749170	T	G	snp	upstream	 	 	 	 	SLCO2A1	Slco2a1	ENSG00000174640	solute carrier organic anion transporter family member 2A1	chr3:133651540-133771028	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]	Hyperparathyroidism, Secondary; hyperbilirubinemia	Mice homozygous for a knock-out allele exhibit preinatel or early psotnatal lethality due to a patent ductus arteriosus and abnormal protaglandin metabolism.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006869;lipid transport;TAS|GO:0015732;prostaglandin transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0015132;prostaglandin transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO2A1		https://hpo.jax.org/app/browse/search?q=SLCO2A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601460	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO2A1&submit=Quick%0D%13556ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO2A1	rs9827460	0.86222	0	0	1	0	0	upstream	upstream	upstream	SLCO2A1	SLCO2A1	ENSG00000174640	Na	Na	Na	Na	Na	Na	Het;T>G	43;3|3	Hom;T>G	223;0|9
N	N	-	3	134080661	134080661	A	G	snp	intronic	 	 	 	 	AMOTL2	Amotl2	ENSG00000114019	angiomotin like 2	chr3:134074716-134094321	Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]	Forced Expiratory Volume; Forced Vital Capacity; Breath Tests	Conditional homozygous knockout in endothelial cells during embryonic development leads to aortic restriction in the embryo.	Signaling by Hippo	GO:0016055;Wnt signaling pathway;IEA|GO:0035329;hippo signaling;TAS	GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005923;bicellular tight junction;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AMOTL2	https://www.uniprot.org/uniprot/Q9Y2J4		https://www.ncbi.nlm.nih.gov/omim/?term=614658	http://www.informatics.jax.org/searchtool/Search.do?query=AMOTL2&submit=Quick%0D%4424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMOTL2	rs1077718	0.934704	0.9260	0.9194	1	0	0	intronic	intronic	intronic	AMOTL2	AMOTL2	ENSG00000114019	Na	Na	Na	Na	Na	Na	Het;A>G	525;23|22	Hom;A>G	995;0|34
N	N	-	3	134197740	134197740	C	T	snp	intronic	 	 	 	 	ANAPC13	Anapc13	ENSG00000129055	anaphase promoting complex subunit 13	chr3:134196548-134205558	This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]	Crohn Disease|Crohn's disease|Growth Disorders; height; Height	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0051301;cell division;IEA|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IEA|GO:0005680;anaphase-promoting complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC13	https://www.uniprot.org/uniprot/Q9BS18		https://www.ncbi.nlm.nih.gov/omim/?term=614484	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC13&submit=Quick%0D%6210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC13	rs6790466	0.727636	0	0	1	0	0	intronic	intronic	intronic	ANAPC13	ANAPC13	ENSG00000129055	Na	Na	Na	Na	Na	Na	Het;C>T	123;2|5	Hom;C>T	175;0|6
N	N	-	3	134213981	134213981	T	C	snp	intronic	 	 	 	 	CEP63	Cep63	ENSG00000182923	centrosomal protein 63	chr3:134204585-134293859	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Body Height; Height; height; Hemoglobins; Crohn Disease|Crohn's disease|Growth Disorders	Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility.	AURKA Activation by TPX2	GO:0000077;DNA damage checkpoint;ISS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007099;centriole replication;IMP|GO:0042770;signal transduction in response to DNA damage;ISS|GO:0051225;spindle assembly;ISS|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:0098535;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;IBA	GO:0000922;spindle pole;ISS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP63		https://hpo.jax.org/app/browse/search?q=CEP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614724	http://www.informatics.jax.org/searchtool/Search.do?query=CEP63&submit=Quick%0D%14882ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP63	rs17694011	0.682308	0	0	1	0	0	intronic	intronic	intronic	CEP63	CEP63	ENSG00000182923	Na	Na	Na	Na	Na	Na	Het;T>C	77;2|3	Hom;T>C	637;0|17
N	N	-	3	134214042	134214042	T	C	snp	intronic	 	 	 	 	CEP63	Cep63	ENSG00000182923	centrosomal protein 63	chr3:134204585-134293859	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Body Height; Height; height; Hemoglobins; Crohn Disease|Crohn's disease|Growth Disorders	Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility.	AURKA Activation by TPX2	GO:0000077;DNA damage checkpoint;ISS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007099;centriole replication;IMP|GO:0042770;signal transduction in response to DNA damage;ISS|GO:0051225;spindle assembly;ISS|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:0098535;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;IBA	GO:0000922;spindle pole;ISS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP63		https://hpo.jax.org/app/browse/search?q=CEP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614724	http://www.informatics.jax.org/searchtool/Search.do?query=CEP63&submit=Quick%0D%14882ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP63	rs62269547	0.682308	0	0	1	0	0	intronic	intronic	intronic	CEP63	CEP63	ENSG00000182923	Na	Na	Na	Na	Na	Na	Het;T>C	496;18|19	Hom;T>C	1622;0|43
N	N	-	3	134226159	134226159	C	T	snp	intronic	 	 	 	 	CEP63	Cep63	ENSG00000182923	centrosomal protein 63	chr3:134204585-134293859	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Body Height; Height; height; Hemoglobins; Crohn Disease|Crohn's disease|Growth Disorders	Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility.	AURKA Activation by TPX2	GO:0000077;DNA damage checkpoint;ISS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007099;centriole replication;IMP|GO:0042770;signal transduction in response to DNA damage;ISS|GO:0051225;spindle assembly;ISS|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:0098535;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;IBA	GO:0000922;spindle pole;ISS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP63		https://hpo.jax.org/app/browse/search?q=CEP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614724	http://www.informatics.jax.org/searchtool/Search.do?query=CEP63&submit=Quick%0D%14882ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP63	rs6766818	0.708666	0.6428	0.7000	1	0	0	intronic	intronic	intronic	CEP63	CEP63	ENSG00000182923	Na	Na	Na	Na	Na	Na	Het;C>T	626;42|32	Hom;C>T	2070;0|78
N	N	-	3	134256159	134256159	A	G	snp	intronic	 	 	 	 	CEP63	Cep63	ENSG00000182923	centrosomal protein 63	chr3:134204585-134293859	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Body Height; Height; height; Hemoglobins; Crohn Disease|Crohn's disease|Growth Disorders	Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility.	AURKA Activation by TPX2	GO:0000077;DNA damage checkpoint;ISS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007099;centriole replication;IMP|GO:0042770;signal transduction in response to DNA damage;ISS|GO:0051225;spindle assembly;ISS|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:0098535;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;IBA	GO:0000922;spindle pole;ISS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP63		https://hpo.jax.org/app/browse/search?q=CEP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614724	http://www.informatics.jax.org/searchtool/Search.do?query=CEP63&submit=Quick%0D%14882ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP63	rs12634127	0.39996	0.3817	0.4849	1	0	0	intronic	intronic	intronic	CEP63	CEP63	ENSG00000182923	Na	Na	Na	Na	Na	Na	Het;A>G	1183;46|48	Hom;A>G	1690;0|54
N	N	-	3	134264859	134264859	A	C	snp	intronic	 	 	 	 	CEP63	Cep63	ENSG00000182923	centrosomal protein 63	chr3:134204585-134293859	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Body Height; Height; height; Hemoglobins; Crohn Disease|Crohn's disease|Growth Disorders	Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility.	AURKA Activation by TPX2	GO:0000077;DNA damage checkpoint;ISS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007099;centriole replication;IMP|GO:0042770;signal transduction in response to DNA damage;ISS|GO:0051225;spindle assembly;ISS|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:0098535;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;IBA	GO:0000922;spindle pole;ISS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP63		https://hpo.jax.org/app/browse/search?q=CEP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614724	http://www.informatics.jax.org/searchtool/Search.do?query=CEP63&submit=Quick%0D%14882ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP63	rs1357762	0.65615	0	0	1	0	0	intronic	intronic	intronic	CEP63	CEP63	ENSG00000182923	Na	Na	Na	Na	Na	Na	Het;A>C	38;2|2	Hom;A>C	204;0|6
N	N	-	3	134277301	134277301	G	A	snp	intronic	 	 	 	 	CEP63	Cep63	ENSG00000182923	centrosomal protein 63	chr3:134204585-134293859	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Body Height; Height; height; Hemoglobins; Crohn Disease|Crohn's disease|Growth Disorders	Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility.	AURKA Activation by TPX2	GO:0000077;DNA damage checkpoint;ISS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007099;centriole replication;IMP|GO:0042770;signal transduction in response to DNA damage;ISS|GO:0051225;spindle assembly;ISS|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:0098535;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;IBA	GO:0000922;spindle pole;ISS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IBA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP63		https://hpo.jax.org/app/browse/search?q=CEP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614724	http://www.informatics.jax.org/searchtool/Search.do?query=CEP63&submit=Quick%0D%14882ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP63	rs4309773	0.681709	0	0	1	0	0	intronic	intronic	intronic	CEP63	CEP63	ENSG00000182923	Na	Na	Na	Na	Na	Na	Het;G>A	95;3|4	Hom;G>A	255;0|8
N	N	-	3	134322742	134322742	A	G	snp	synonymous SNV	T1665C	L555L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KY	Ky	ENSG00000174611	kyphoscoliosis peptidase	chr3:134321980-134370478		Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular.		GO:0006508;proteolysis;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0030018;Z disc;IEA	GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KY		https://hpo.jax.org/app/browse/search?q=KY&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605739	http://www.informatics.jax.org/searchtool/Search.do?query=KY&submit=Quick%0D%13554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KY	rs2293293	0.684105	0.6136	0.6720	1	0	0	exonic	exonic	exonic	KY	KY	ENSG00000174611	synonymous SNV	synonymous SNV	unknown	KY:NM_178554:exon11:c.T1665C:p.L555L,	KY:uc010hty.3:exon11:c.T1665C:p.L555L,KY:uc011blx.2:exon10:c.T1602C:p.L534L,	UNKNOWN	Het;A>G	1057;74|49	Hom;A>G	3864;2|139
N	N	-	3	134325657	134325657	T	G	snp	UTR3	*1589A>C	 	 	 	KY	Ky	ENSG00000174611	kyphoscoliosis peptidase	chr3:134321980-134370478		Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular.		GO:0006508;proteolysis;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0030018;Z disc;IEA	GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KY		https://hpo.jax.org/app/browse/search?q=KY&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605739	http://www.informatics.jax.org/searchtool/Search.do?query=KY&submit=Quick%0D%13554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KY	rs4074523	0.683307	0	0	1	0	0	intronic	UTR3	intronic	KY	KY(uc003eqr.1:c.*1589A>C)	ENSG00000174611	Na	Na	Na	Na	Na	Na	Het;T>G	96;2|6	Hom;T>G	435;0|16
N	N	-	3	134326684	134326684	G	A	snp	UTR3	*562C>T	 	 	 	KY	Ky	ENSG00000174611	kyphoscoliosis peptidase	chr3:134321980-134370478		Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular.		GO:0006508;proteolysis;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0030018;Z disc;IEA	GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KY		https://hpo.jax.org/app/browse/search?q=KY&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605739	http://www.informatics.jax.org/searchtool/Search.do?query=KY&submit=Quick%0D%13554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KY	rs2888670	0.682708	0	0	1	0	0	intronic	UTR3	intronic	KY	KY(uc003eqr.1:c.*562C>T)	ENSG00000174611	Na	Na	Na	Na	Na	Na	Het;G>A	131;5|8	Hom;G>A	269;0|12
N	N	-	3	134884652	134884652	A	C	snp	intronic	 	 	 	 	EPHB1	Ephb1	ENSG00000154928	EPH receptor B1	chr3:134316643-134979309	Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]	Arteries; Blood Coagulation Factor Inhibitors; Diabetes Mellitus, Type 2; Parkinson's disease ; Breath Tests; Tobacco Use Disorder; Blood Flow Velocity; depression; Coronary Artery Disease; attention deficit disorder conduct disorder oppositional defiant disorder; Stroke; Carcinoma, Squamous Cell|Esophageal Neoplasms	Mice homozygous for disruptions of this gene display marked reductions of the ipsilateral optic tract. Homozygotes for one null allele show reduced corticospinal tract and abnormal anterior commissure axon crossing.	EPH-ephrin mediated repulsion of cells	GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IDA|GO:0001655;urogenital system development;IEA|GO:0001771;immunological synapse formation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007612;learning;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0014719;skeletal muscle satellite cell activation;ISS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021631;optic nerve morphogenesis;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022008;neurogenesis;ISS|GO:0022038;corpus callosum development;IEA|GO:0030010;establishment of cell polarity;ISS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0031589;cell-substrate adhesion;IDA|GO:0042472;inner ear morphogenesis;IEA|GO:0046328;regulation of JNK cascade;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;IEA|GO:0048593;camera-type eye morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050878;regulation of body fluid levels;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;ISS|GO:0051965;positive regulation of synapse assembly;IEA|GO:0060021;palate development;IEA|GO:0060326;cell chemotaxis;IDA|GO:0060996;dendritic spine development;IEA|GO:0060997;dendritic spine morphogenesis;IEA|GO:0061351;neural precursor cell proliferation;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;IDA|GO:0071679;commissural neuron axon guidance;IEA|GO:0099557;trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission;IEA|GO:1901214;regulation of neuron death;IMP|GO:1902723;negative regulation of skeletal muscle satellite cell proliferation;ISS|GO:1902725;negative regulation of satellite cell differentiation;ISS	GO:0005576;extracellular region;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031901;early endosome membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004872;receptor activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005005;transmembrane-ephrin receptor activity;IDA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008046;axon guidance receptor activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPHB1	https://www.uniprot.org/uniprot/P54762		https://www.ncbi.nlm.nih.gov/omim/?term=600600	http://www.informatics.jax.org/searchtool/Search.do?query=EPHB1&submit=Quick%0D%9822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHB1	rs1159404	0.46885	0	0	1	0	0	intronic	intronic	intronic	EPHB1	EPHB1	ENSG00000154928	Na	Na	Na	Na	Na	Na	Het;A>C	67;2|3	Hom;A>C	124;0|4
N	N	-	3	13561079	13561079	G	A	snp	intergenic	 	 	 	 	HDAC11	Hdac11	ENSG00000163517	histone deacetylase 11	chr3:13521224-13547916	This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]	Body Height; Hip	Mice homozygous for a knockout allele exhibit increased IL10 secretion from peritoneal elicited macrophages stimulated with LPS, more suppressive myeloid-derived suppressive cell population and enhanced tumor growth of injected tumor cells.	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0014003;oligodendrocyte development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0070932;histone H3 deacetylation;IEA	GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0004407;histone deacetylase activity;IDA|GO:0008134;transcription factor binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA	http://www.genecards.org/index.php?path=/Search/keyword/HDAC11			https://www.ncbi.nlm.nih.gov/omim/?term=607226	http://www.informatics.jax.org/searchtool/Search.do?query=HDAC11&submit=Quick%0D%10992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC11	rs6442393	0.222244	0	0	1	0	0	intergenic	intergenic	intergenic	HDAC11(dist=13155),FBLN2(dist=29546)	HDAC11(dist=13155),FBLN2(dist=12745)	ENSG00000163517(dist=13163),ENSG00000163520(dist=12745)	Na	Na	Na	Na	Na	Na	Het;G>A	52;2|4	Hom;G>A	71;0|4
N	N	-	3	137779987	137779987	G	C	snp	downstream	 	 	 	 	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs9814877	0.635783	0	0	1	0	0	downstream	downstream	downstream	DZIP1L	DZIP1L	ENSG00000158163	Na	Na	Na	Na	Na	Na	Het;G>C	130;3|7	Hom;G>C	150;0|6
N	N	-	3	137781923	137781923	A	C	snp	intronic	 	 	 	 	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs329388	0.609026	0	0	1	0	0	intronic	intronic	intronic	DZIP1L	DZIP1L	ENSG00000158163	Na	Na	Na	Na	Na	Na	Het;A>C	172;1|7	Hom;A>C	112;0|5
N	N	-	3	137786442	137786442	T	C	snp	nonsynonymous SNV	A1933G	K645E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs442800	0.553115	0.5933	0.6457	0.08	1	13	exonic	exonic	exonic	DZIP1L	DZIP1L	ENSG00000158163	nonsynonymous SNV	nonsynonymous SNV	unknown	DZIP1L:NM_173543:exon14:c.A1933G:p.K645E,	DZIP1L:uc003erq.3:exon14:c.A1933G:p.K645E,	UNKNOWN	Het;T>C	767;44|36	Hom;T>C	1211;2|45
N	N	-	3	137787047	137787047	C	T	snp	nonsynonymous SNV	G1778A	R593H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs374045	0.628794	0.7237	0.7718	0.15	2	13	exonic	exonic	exonic	DZIP1L	DZIP1L	ENSG00000158163	nonsynonymous SNV	nonsynonymous SNV	unknown	DZIP1L:NM_173543:exon13:c.G1778A:p.R593H,	DZIP1L:uc003erq.3:exon13:c.G1778A:p.R593H,	UNKNOWN	Het;C>T	993;52|48	Hom;C>T	1361;0|51
N	N	-	3	137787192	137787192	T	C	snp	nonsynonymous SNV	A1633G	T545A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs446644	0.628794	0.7241	0.7717	0.08	1	13	exonic	exonic	exonic	DZIP1L	DZIP1L	ENSG00000158163	nonsynonymous SNV	nonsynonymous SNV	unknown	DZIP1L:NM_173543:exon13:c.A1633G:p.T545A,	DZIP1L:uc003erq.3:exon13:c.A1633G:p.T545A,	UNKNOWN	Het;T>C	847;54|42	Hom;T>C	1019;0|36
N	N	-	3	137787282	137787282	T	C	snp	intronic	 	 	 	 	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs419075	0.695487	0	0	1	0	0	intronic	intronic	intronic	DZIP1L	DZIP1L	ENSG00000158163	Na	Na	Na	Na	Na	Na	Het;T>C	112;28|8	Hom;T>C	366;0|13
N	N	-	3	137799498	137799498	T	C	snp	intronic	 	 	 	 	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs405602	0.613419	0.6536	0.6631	1	0	0	intronic	intronic	intronic	DZIP1L	DZIP1L	ENSG00000158163	Na	Na	Na	Na	Na	Na	Het;T>C	398;25|21	Hom;T>C	1217;0|44
N	N	-	3	137800656	137800656	A	G	snp	intronic	 	 	 	 	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs2622711	0.613219	0.6539	0.6632	1	0	0	intronic	intronic	intronic	DZIP1L	DZIP1L	ENSG00000158163	Na	Na	Na	Na	Na	Na	Het;A>G	1105;16|51	Hom;A>G	1413;0|53
N	N	-	3	137807259	137807259	G	A	snp	nonsynonymous SNV	C961T	R321W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	DZIP1L	Dzip1l	ENSG00000158163	DAZ interacting zinc finger protein 1 like	chr3:137780832-137834660			Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background.		GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L		https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L	rs2724693	0.536941	0.5690	0.6386	0.38	5	13	exonic	exonic	exonic	DZIP1L	DZIP1L	ENSG00000158163	nonsynonymous SNV	nonsynonymous SNV	unknown	DZIP1L:NM_173543:exon6:c.C961T:p.R321W,DZIP1L:NM_001170538:exon7:c.C961T:p.R321W,	DZIP1L:uc003err.1:exon7:c.C961T:p.R321W,DZIP1L:uc003erq.3:exon6:c.C961T:p.R321W,	UNKNOWN	Het;G>A	858;77|49	Hom;G>A	2750;0|110
N	N	-	3	137843106	137843106	T	C	snp	synonymous SNV	A1023G	X341X	 	 	A4GNT	A4gnt	ENSG00000118017	alpha-1,4-N-acetylglucosaminyltransferase	chr3:137842560-137851229	This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]	Stomach Neoplasms; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit gastric adenocarcinoma with increased cell proliferation, angiogenesis, inflammation and gastric mucosal thickness.	O-linked glycosylation of mucins	GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0009101;glycoprotein biosynthetic process;IDA|GO:0016266;O-glycan processing;TAS|GO:0050680;negative regulation of epithelial cell proliferation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS	GO:0008375;acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/A4GNT	https://www.uniprot.org/uniprot/Q9UNA3		https://www.ncbi.nlm.nih.gov/omim/?term=616709	http://www.informatics.jax.org/searchtool/Search.do?query=A4GNT&submit=Quick%0D%4937ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=A4GNT	rs2170309	0.654153	0.6607	0.6549	1	0	0	exonic	exonic	exonic	A4GNT	A4GNT	ENSG00000118017	synonymous SNV	synonymous SNV	unknown	A4GNT:NM_016161:exon3:c.A1023G:p.X341X,	A4GNT:uc003ers.2:exon3:c.A1023G:p.X341X,	UNKNOWN	Het;T>C	783;32|35	Hom;T>C	1312;2|47
N	N	-	3	137843476	137843476	G	T	snp	nonsynonymous SNV	C653A	A218D	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	A4GNT	A4gnt	ENSG00000118017	alpha-1,4-N-acetylglucosaminyltransferase	chr3:137842560-137851229	This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]	Stomach Neoplasms; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit gastric adenocarcinoma with increased cell proliferation, angiogenesis, inflammation and gastric mucosal thickness.	O-linked glycosylation of mucins	GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0009101;glycoprotein biosynthetic process;IDA|GO:0016266;O-glycan processing;TAS|GO:0050680;negative regulation of epithelial cell proliferation;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS	GO:0008375;acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/A4GNT	https://www.uniprot.org/uniprot/Q9UNA3		https://www.ncbi.nlm.nih.gov/omim/?term=616709	http://www.informatics.jax.org/searchtool/Search.do?query=A4GNT&submit=Quick%0D%4937ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=A4GNT	rs2246945	0.653754	0.6605	0.6523	0.15	2	13	exonic	exonic	exonic	A4GNT	A4GNT	ENSG00000118017	nonsynonymous SNV	nonsynonymous SNV	unknown	A4GNT:NM_016161:exon3:c.C653A:p.A218D,	A4GNT:uc003ers.2:exon3:c.C653A:p.A218D,	UNKNOWN	Het;G>T	1367;69|64	Hom;G>T	3847;0|143
N	N	-	3	137958438	137958438	C	T	snp	intronic	 	 	 	 	ARMC8	Armc8	ENSG00000114098	armadillo repeat containing 8	chr3:137906109-138017231			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARMC8	https://www.uniprot.org/uniprot/Q8IUR7			http://www.informatics.jax.org/searchtool/Search.do?query=ARMC8&submit=Quick%0D%4431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC8	rs6778511	0.658147	0.5866	0	1	0	0	intronic	intronic	intronic	ARMC8	ARMC8	ENSG00000114098	Na	Na	Na	Na	Na	Na	Het;C>T	197;18|11	Hom;C>T	1018;0|36
N	N	-	3	137982718	137982718	T	G	snp	UTR5	-331T>G	 	 	 	ARMC8	Armc8	ENSG00000114098	armadillo repeat containing 8	chr3:137906109-138017231			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARMC8	https://www.uniprot.org/uniprot/Q8IUR7			http://www.informatics.jax.org/searchtool/Search.do?query=ARMC8&submit=Quick%0D%4431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC8	rs939453	0.540136	0.4761	0	1	0	0	intronic	UTR5	intronic	ARMC8,NME9	ARMC8(uc003esf.2:c.-331T>G)	ENSG00000114098,ENSG00000181322	Na	Na	Na	Na	Na	Na	Het;T>G	784;34|35	Hom;T>G	2511;0|85
N	N	-	3	138171042	138171042	C	T	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs4678418	0.483227	0	0	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;C>T	57;8|4	Hom;C>T	275;0|11
N	N	-	3	138173905	138173905	G	A	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs56236670	0.477037	0	0	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;G>A	53;4|3	Hom;G>A	75;0|3
N	N	-	3	138174306	138174309	CCCG	C	indel	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs146958628	0.549521	0	0	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;-CCG	203;4|6	Hom;-CCG	233;0|6
N	N	-	3	138176533	138176533	A	T	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs66644444	0.48722	0.4623	0.5420	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;A>T	323;31|19	Hom;A>T	1401;0|52
N	N	-	3	138179308	138179308	G	A	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs67037472	0.477037	0	0	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;G>A	162;4|6	Hom;G>A	89;0|4
N	N	-	3	138179328	138179328	C	T	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs6763380	0.48103	0	0	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;C>T	162;4|6	Hom;C>T	239;0|8
N	N	-	3	138187568	138187568	C	T	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs1679167	0.64357	0.5230	0.6154	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;C>T	780;53|40	Hom;C>T	1974;0|75
N	N	-	3	138189031	138189031	T	C	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs2347469	0.788538	0.7496	0.7731	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;T>C	129;17|8	Hom;T>C	799;0|28
N	N	-	3	138189658	138189658	A	G	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs3813264	0.565695	0	0	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;A>G	888;17|36	Hom;A>G	1213;0|43
N	N	-	3	138195529	138195529	C	T	snp	intronic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs1679169	0.459864	0	0	1	0	0	intronic	intronic	intronic	ESYT3	ESYT3	ENSG00000158220	Na	Na	Na	Na	Na	Na	Het;C>T	90;3|4	Hom;C>T	226;0|8
N	N	-	3	138198466	138198470	CTCAA	C	indel	intergenic	 	 	 	 	ESYT3	Esyt3	ENSG00000158220	extended synaptotagmin 3	chr3:138153428-138200528			Mice are viable and fertile without overt morphological defects.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT3			https://www.ncbi.nlm.nih.gov/omim/?term=616692	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3	rs58276388	0.690695	0	0	1	0	0	intergenic	intergenic	intergenic	ESYT3(dist=1210),CEP70(dist=14711)	ESYT3(dist=1210),CEP70(dist=14717)	ENSG00000158220(dist=1210),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;-TCAA	5156;131|134	Hom;-TCAA	6256;6|219
N	N	-	3	138289163	138289163	T	C	snp	synonymous SNV	A462G	L154L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CEP70	Cep70	ENSG00000114107	centrosomal protein 70	chr3:138213186-138313380		Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP70	https://www.uniprot.org/uniprot/Q8NHQ1		https://www.ncbi.nlm.nih.gov/omim/?term=614310	http://www.informatics.jax.org/searchtool/Search.do?query=CEP70&submit=Quick%0D%4432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP70	rs1673608	0.48123	0.4389	0.5376	1	0	0	exonic	exonic	exonic	CEP70	CEP70	ENSG00000114107	synonymous SNV	synonymous SNV	unknown	CEP70:NM_001288966:exon6:c.A462G:p.L154L,CEP70:NM_001288964:exon6:c.A408G:p.L136L,CEP70:NM_001288965:exon5:c.A402G:p.L134L,CEP70:NM_024491:exon6:c.A462G:p.L154L,	CEP70:uc003esl.3:exon6:c.A462G:p.L154L,CEP70:uc011bml.2:exon6:c.A408G:p.L136L,CEP70:uc011bmk.2:exon5:c.A402G:p.L134L,CEP70:uc003esn.3:exon5:c.A462G:p.L154L,CEP70:uc003esm.3:exon6:c.A462G:p.L154L,	UNKNOWN	Het;T>C	811;31|36	Hom;T>C	1770;0|62
N	N	-	3	138289221	138289221	C	T	snp	nonsynonymous SNV	G404A	S135N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CEP70	Cep70	ENSG00000114107	centrosomal protein 70	chr3:138213186-138313380		Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP70	https://www.uniprot.org/uniprot/Q8NHQ1		https://www.ncbi.nlm.nih.gov/omim/?term=614310	http://www.informatics.jax.org/searchtool/Search.do?query=CEP70&submit=Quick%0D%4432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP70	rs1673607	0.690695	0.5668	0.6241	0.08	1	13	exonic	exonic	exonic	CEP70	CEP70	ENSG00000114107	nonsynonymous SNV	nonsynonymous SNV	unknown	CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_024491:exon6:c.G404A:p.S135N,	CEP70:uc003esl.3:exon6:c.G404A:p.S135N,CEP70:uc011bml.2:exon6:c.G350A:p.S117N,CEP70:uc011bmk.2:exon5:c.G344A:p.S115N,CEP70:uc003esn.3:exon5:c.G404A:p.S135N,CEP70:uc003esm.3:exon6:c.G404A:p.S135N,	UNKNOWN	Het;C>T	1263;79|60	Hom;C>T	3062;0|116
N	N	-	3	138329862	138329862	G	A	snp	synonymous SNV	G63A	P21P	hydrophobic,neutral	hydrophobic,neutral	FAIM	Faim	ENSG00000158234	Fas apoptotic inhibitory molecule	chr3:138327448-138352218	The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele have thymocytes with an enhanced susceptibility to FAS-induced apoptosis, and B cells that more susceptible to activation induced cell death.		GO:0006915;apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA	GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAIM			https://www.ncbi.nlm.nih.gov/omim/?term=617535	http://www.informatics.jax.org/searchtool/Search.do?query=FAIM&submit=Quick%0D%10184ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAIM	rs811322	0.70647	0.5707	0.6504	1	0	0	exonic	exonic	exonic	FAIM	FAIM	ENSG00000158234	synonymous SNV	synonymous SNV	unknown	FAIM:NM_001033030:exon2:c.G63A:p.P21P,	FAIM:uc003esp.3:exon2:c.G63A:p.P21P,FAIM:uc003eso.1:exon2:c.G63A:p.P21P,	UNKNOWN	Het;G>A	996;61|53	Hom;G>A	2706;0|103
N	N	-	3	138417989	138417989	G	A	snp	intronic	 	 	 	 	PIK3CB	Pik3cb	ENSG00000051382	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	chr3:138372860-138553780	This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	human longevity; esophageal cancer; Barrett's esophagus; insulin; Hepatitis C|Remission, Spontaneous; breast cancer; longevity; Type 2 Diabetes| edema | rosiglitazone; Breast density; diabetes, type 2; BMI- Edema rosiglitazone or pioglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance; Insulin Resistance|Obesity; Hypercholesterolemia|LDLC levels; HIV; Schizophrenia	Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia.  Mice homozygous for a different knock-out allele die prior to E8.5	Regulation of signaling by CBL	GO:0000187;activation of MAPK activity;TAS|GO:0001935;endothelial cell proliferation;IEA|GO:0001952;regulation of cell-matrix adhesion;IMP|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IEA|GO:0006935;chemotaxis;TAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007411;axon guidance;TAS|GO:0009611;response to wounding;IEA|GO:0010508;positive regulation of autophagy;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IDA|GO:0016477;cell migration;TAS|GO:0030168;platelet activation;TAS|GO:0033031;positive regulation of neutrophil apoptotic process;IMP|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0040016;embryonic cleavage;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0070527;platelet aggregation;TAS|GO:2000369;regulation of clathrin-dependent endocytosis;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0030496;midbody;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0043560;insulin receptor substrate binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIK3CB	https://www.uniprot.org/uniprot/P42338		https://www.ncbi.nlm.nih.gov/omim/?term=602925	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3CB&submit=Quick%0D%940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3CB	rs361080	0.703275	0.5822	0.6389	1	0	0	intronic	intronic	intronic	PIK3CB	PIK3CB	ENSG00000051382	Na	Na	Na	Na	Na	Na	Het;G>A	128;11|7	Hom;G>A	541;0|17
N	N	-	3	138433568	138433568	C	T	snp	intronic	 	 	 	 	PIK3CB	Pik3cb	ENSG00000051382	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	chr3:138372860-138553780	This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	human longevity; esophageal cancer; Barrett's esophagus; insulin; Hepatitis C|Remission, Spontaneous; breast cancer; longevity; Type 2 Diabetes| edema | rosiglitazone; Breast density; diabetes, type 2; BMI- Edema rosiglitazone or pioglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance; Insulin Resistance|Obesity; Hypercholesterolemia|LDLC levels; HIV; Schizophrenia	Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia.  Mice homozygous for a different knock-out allele die prior to E8.5	Regulation of signaling by CBL	GO:0000187;activation of MAPK activity;TAS|GO:0001935;endothelial cell proliferation;IEA|GO:0001952;regulation of cell-matrix adhesion;IMP|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IEA|GO:0006935;chemotaxis;TAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007411;axon guidance;TAS|GO:0009611;response to wounding;IEA|GO:0010508;positive regulation of autophagy;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IDA|GO:0016477;cell migration;TAS|GO:0030168;platelet activation;TAS|GO:0033031;positive regulation of neutrophil apoptotic process;IMP|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0040016;embryonic cleavage;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0070527;platelet aggregation;TAS|GO:2000369;regulation of clathrin-dependent endocytosis;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0030496;midbody;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0043560;insulin receptor substrate binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIK3CB	https://www.uniprot.org/uniprot/P42338		https://www.ncbi.nlm.nih.gov/omim/?term=602925	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3CB&submit=Quick%0D%940ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3CB	rs497900	0.701877	0.5603	0.6224	1	0	0	intronic	intronic	intronic	PIK3CB	PIK3CB	ENSG00000051382	Na	Na	Na	Na	Na	Na	Het;C>T	303;10|13	Hom;C>T	579;0|22
N	N	-	3	138496809	138496809	T	A	snp	ncRNA_exonic	 	 	 	 	GAPDHP39																		rs388649	0.442891	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PIK3CB(dist=18608),LINC01391(dist=157222)	PIK3CB(dist=18608),AK128202(dist=157222)	ENSG00000239207	Na	Na	Na	Na	Na	Na	Het;T>A	152;10|5	Hom;T>A	242;0|6
N	N	-	3	138496810	138496810	G	T	snp	ncRNA_exonic	 	 	 	 	GAPDHP39																		rs367058	0.443291	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PIK3CB(dist=18609),LINC01391(dist=157221)	PIK3CB(dist=18609),AK128202(dist=157221)	ENSG00000239207	Na	Na	Na	Na	Na	Na	Het;G>T	152;10|5	Hom;G>T	242;0|6
N	N	-	3	138654419	138654419	C	A	snp	ncRNA_exonic	 	 	 	 	LINC01391																		rs61407395	0.368411	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01391	AK128202	ENSG00000244578	Na	Na	Na	Na	Na	Na	Het;C>A	2425;126|114	Hom;C>A	5996;0|218
N	N	-	3	138655999	138655999	T	G	snp	ncRNA_exonic	 	 	 	 	LINC01391																		rs2062158	0.396765	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01391	AK128202	ENSG00000244578	Na	Na	Na	Na	Na	Na	Het;T>G	814;76|43	Hom;T>G	3068;2|106
N	N	-	3	139214152	139214152	A	G	snp	ncRNA_intronic	 	 	 	 	LOC100507291																		rs295472	0.751398	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC100507291	RBP2(dist=18800),RBP1(dist=22124)	ENSG00000248932	Na	Na	Na	Na	Na	Na	Het;A>G	398;8|18	Hom;A>G	1041;0|39
N	N	-	3	139944760	139944760	A	T	snp	intronic	 	 	 	 	CLSTN2	Clstn2	ENSG00000158258	calsyntenin 2	chr3:139654027-140296239		Respiratory Function Tests; Memory Disorders|Prenatal Exposure Delayed Effects; Tobacco Use Disorder; Colitis, Ulcerative|Crohn Disease|; Socioeconomic Factors; Crohn Disease|Rectal Fistula; Schizophrenia; cognitive ability; smoking cessation; Hemoglobins; Death, Sudden, Cardiac; null; Inflammatory Bowel Diseases	Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051965;positive regulation of synapse assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLSTN2			https://www.ncbi.nlm.nih.gov/omim/?term=611323	http://www.informatics.jax.org/searchtool/Search.do?query=CLSTN2&submit=Quick%0D%10186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSTN2	rs13314040	0.654952	0	0	1	0	0	intronic	intronic	intronic	CLSTN2	CLSTN2	ENSG00000158258	Na	Na	Na	Na	Na	Na	Het;A>T	125;6|8	Hom;A>T	249;0|12
N	N	-	3	140185367	140185367	G	A	snp	intronic	 	 	 	 	CLSTN2	Clstn2	ENSG00000158258	calsyntenin 2	chr3:139654027-140296239		Respiratory Function Tests; Memory Disorders|Prenatal Exposure Delayed Effects; Tobacco Use Disorder; Colitis, Ulcerative|Crohn Disease|; Socioeconomic Factors; Crohn Disease|Rectal Fistula; Schizophrenia; cognitive ability; smoking cessation; Hemoglobins; Death, Sudden, Cardiac; null; Inflammatory Bowel Diseases	Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051965;positive regulation of synapse assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLSTN2			https://www.ncbi.nlm.nih.gov/omim/?term=611323	http://www.informatics.jax.org/searchtool/Search.do?query=CLSTN2&submit=Quick%0D%10186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSTN2	rs9631463	0.176118	0	0	1	0	0	intronic	intronic	intronic	CLSTN2	CLSTN2	ENSG00000158258	Na	Na	Na	Na	Na	Na	Het;G>A	126;10|7	Hom;G>A	447;0|15
N	N	-	3	140185696	140185696	A	C	snp	intronic	 	 	 	 	CLSTN2	Clstn2	ENSG00000158258	calsyntenin 2	chr3:139654027-140296239		Respiratory Function Tests; Memory Disorders|Prenatal Exposure Delayed Effects; Tobacco Use Disorder; Colitis, Ulcerative|Crohn Disease|; Socioeconomic Factors; Crohn Disease|Rectal Fistula; Schizophrenia; cognitive ability; smoking cessation; Hemoglobins; Death, Sudden, Cardiac; null; Inflammatory Bowel Diseases	Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051965;positive regulation of synapse assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLSTN2			https://www.ncbi.nlm.nih.gov/omim/?term=611323	http://www.informatics.jax.org/searchtool/Search.do?query=CLSTN2&submit=Quick%0D%10186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSTN2	rs499839	0.311302	0	0	1	0	0	intronic	intronic	intronic	CLSTN2	CLSTN2	ENSG00000158258	Na	Na	Na	Na	Na	Na	Het;A>C	387;20|15	Hom;A>C	752;0|21
N	N	-	3	140185729	140185729	C	T	snp	intronic	 	 	 	 	CLSTN2	Clstn2	ENSG00000158258	calsyntenin 2	chr3:139654027-140296239		Respiratory Function Tests; Memory Disorders|Prenatal Exposure Delayed Effects; Tobacco Use Disorder; Colitis, Ulcerative|Crohn Disease|; Socioeconomic Factors; Crohn Disease|Rectal Fistula; Schizophrenia; cognitive ability; smoking cessation; Hemoglobins; Death, Sudden, Cardiac; null; Inflammatory Bowel Diseases	Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051965;positive regulation of synapse assembly;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLSTN2			https://www.ncbi.nlm.nih.gov/omim/?term=611323	http://www.informatics.jax.org/searchtool/Search.do?query=CLSTN2&submit=Quick%0D%10186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSTN2	rs529815	0.310903	0	0	1	0	0	intronic	intronic	intronic	CLSTN2	CLSTN2	ENSG00000158258	Na	Na	Na	Na	Na	Na	Het;C>T	129;11|6	Hom;C>T	292;0|10
N	N	-	3	141356271	141356271	T	C	snp	intergenic	 	 	 	 	RASA2	Rasa2	ENSG00000155903	RAS p21 protein activator 2	chr3:141205889-141334184	The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	NOONAN SYNDROME	 	Signaling by RAS mutants	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046580;negative regulation of Ras protein signal transduction;IBA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005096;GTPase activator activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RASA2	https://www.uniprot.org/uniprot/Q15283	https://hpo.jax.org/app/browse/search?q=RASA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601589	http://www.informatics.jax.org/searchtool/Search.do?query=RASA2&submit=Quick%0D%9914ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RASA2	rs6768894	0.257987	0	0	1	0	0	intergenic	intergenic	intergenic	RASA2(dist=22066),RNF7(dist=100780)	RASA2(dist=25074),RNF7(dist=100780)	ENSG00000155903(dist=22087),ENSG00000242104(dist=25770)	Na	Na	Na	Na	Na	Na	Het;T>C	1810;44|86	Hom;T>C	2877;3|118
N	N	-	3	141461847	141461847	T	G	snp	intronic	 	 	 	 	RNF7	Rnf7	ENSG00000114125	ring finger protein 7	chr3:141457046-141466402	The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]		Mice homozygous for a null mutation display complete embryonic lethality during organogenesis with defects in angiogenesis, widespread apoptosis, impaired cell cycle progression of neuronal precursors and embryonic growth retardation.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045116;protein neddylation;IDA|GO:0051775;response to redox state;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005680;anaphase-promoting complex;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031466;Cul5-RING ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005507;copper ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0019788;NEDD8 transferase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0097602;cullin family protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RNF7	https://www.uniprot.org/uniprot/Q9UBF6		https://www.ncbi.nlm.nih.gov/omim/?term=603863	http://www.informatics.jax.org/searchtool/Search.do?query=RNF7&submit=Quick%0D%4437ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF7	rs6769676	0.382987	0	0	1	0	0	intronic	intronic	intronic	RNF7	RNF7	ENSG00000114125	Na	Na	Na	Na	Na	Na	Het;T>G	266;4|10	Hom;T>G	817;0|24
N	N	-	3	142537071	142537071	C	G	snp	UTR3	*106G>C	 	 	 	PCOLCE2	Pcolce2	ENSG00000163710	procollagen C-endopeptidase enhancer 2	chr3:142534764-142608045			Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable abnormalities in thymus or T cell development.	Collagen biosynthesis and modifying enzymes	GO:0010952;positive regulation of peptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0005518;collagen binding;IDA|GO:0008201;heparin binding;IDA|GO:0016504;peptidase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PCOLCE2			https://www.ncbi.nlm.nih.gov/omim/?term=607064	http://www.informatics.jax.org/searchtool/Search.do?query=PCOLCE2&submit=Quick%0D%11067ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCOLCE2	rs7772	0.283546	0	0	1	0	0	UTR3	UTR3	UTR3	PCOLCE2(NM_013363:c.*106G>C)	PCOLCE2(uc003evd.3:c.*106G>C)	ENSG00000163710(ENST00000470310:c.*106G>C,ENST00000295992:c.*106G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	149;6|5	Hom;C>G	391;0|11
N	N	-	3	142546354	142546354	C	T	snp	ncRNA_exonic	 	 	 	 	AC021074.1																		rs7642969	0.36262	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PCOLCE2	PCOLCE2	ENSG00000240950	Na	Na	Na	Na	Na	Na	Het;C>T	110;18|8	Hom;C>T	737;0|27
N	N	-	3	142720221	142720221	T	TGGACAACGA	indel	ncRNA_exonic	 	 	 	 	LOC100289361																		rs11282240	0.719649	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100289361	LOC100289361	ENSG00000241570,ENSG00000268129	Na	Na	Na	Na	Na	Na	Het;+GGACAACGA	3073;94|81	Hom;+GGACAACGA	7026;0|157
N	N	-	3	142720348	142720348	G	A	snp	ncRNA_exonic	 	 	 	 	PAQR9-AS1																		rs766360	0.600439	0	0	1	0	0	upstream;downstream	upstream	ncRNA_exonic	LOC100289361,U2SURP;PAQR9-AS1	LOC100289361,U2SURP	ENSG00000241570	Na	Na	Na	Na	Na	Na	Het;G>A	428;32|23	Hom;G>A	1549;0|55
N	N	-	3	142752293	142752293	G	A	snp	intronic	 	 	 	 	U2SURP	U2surp	ENSG00000163714	U2 snRNP associated SURP domain containing	chr3:142683339-142779567			 	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/U2SURP				http://www.informatics.jax.org/searchtool/Search.do?query=U2SURP&submit=Quick%0D%11068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=U2SURP	rs1449869	0.702875	0	0	1	0	0	intronic	intronic	intronic	U2SURP	U2SURP	ENSG00000163714	Na	Na	Na	Na	Na	Na	Het;G>A	115;6|5	Hom;G>A	354;0|11
N	N	-	3	142772785	142772785	G	A	snp	intronic	 	 	 	 	U2SURP	U2surp	ENSG00000163714	U2 snRNP associated SURP domain containing	chr3:142683339-142779567			 	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/U2SURP				http://www.informatics.jax.org/searchtool/Search.do?query=U2SURP&submit=Quick%0D%11068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=U2SURP	rs16852921	0.245208	0	0	1	0	0	intronic	intronic	intronic	U2SURP	U2SURP	ENSG00000163714	Na	Na	Na	Na	Na	Na	Het;G>A	196;8|7	Hom;G>A	425;0|12
N	N	-	3	142773738	142773738	C	T	snp	intronic	 	 	 	 	U2SURP	U2surp	ENSG00000163714	U2 snRNP associated SURP domain containing	chr3:142683339-142779567			 	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/U2SURP				http://www.informatics.jax.org/searchtool/Search.do?query=U2SURP&submit=Quick%0D%11068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=U2SURP	rs10935479	0.69389	0.6587	0.6721	1	0	0	intronic	intronic	intronic	U2SURP	U2SURP	ENSG00000163714	Na	Na	Na	Na	Na	Na	Het;C>T	724;14|28	Hom;C>T	1093;0|37
N	N	-	3	144796395	144796395	A	G	snp	intergenic	 	 	 	 	RNA5SP144																		rs9860089	0.456869	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf58(dist=1085185),PLOD2(dist=990833)	5S_rRNA(dist=890533),PLOD2(dist=990833)	ENSG00000222778(dist=890533),ENSG00000244024(dist=444930)	Na	Na	Na	Na	Na	Na	Het;A>G	169;4|5	Hom;A>G	467;0|11
N	N	-	3	144796399	144796399	A	G	snp	intergenic	 	 	 	 	RNA5SP144																		rs34339727	0	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf58(dist=1085189),PLOD2(dist=990829)	5S_rRNA(dist=890537),PLOD2(dist=990829)	ENSG00000222778(dist=890537),ENSG00000244024(dist=444926)	Na	Na	Na	Na	Na	Na	Het;A>G	166;4|5	Hom;A>G	467;0|11
N	N	-	3	145008692	145008692	C	T	snp	intergenic	 	 	 	 	RNA5SP144																		rs6782647	0.653754	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf58(dist=1297482),PLOD2(dist=778536)	5S_rRNA(dist=1102830),PLOD2(dist=778536)	ENSG00000222778(dist=1102830),ENSG00000244024(dist=232633)	Na	Na	Na	Na	Na	Na	Het;C>T	288;41|18	Hom;C>T	1358;0|50
N	N	-	3	14526538	14526538	G	A	snp	UTR3	*681G>A	 	 	 	SLC6A6	Slc6a6	ENSG00000131389	solute carrier family 6 member 6	chr3:14444076-14530857	This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Glucose; Psychomotor Performance; Alcoholism; Basophils; Hyperparathyroidism, Secondary	Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues.	Na+/Cl- dependent neurotransmitter transporters	GO:0003333;amino acid transmembrane transport;IBA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015711;organic anion transport;IEA|GO:0015734;taurine transport;IEA|GO:0042918;alkanesulfonate transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1903825;organic acid transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005368;taurine transmembrane transporter activity;IEA|GO:0005369;taurine:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A6	https://www.uniprot.org/uniprot/P31641		https://www.ncbi.nlm.nih.gov/omim/?term=186854	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A6&submit=Quick%0D%6535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A6	rs1062540	0.242212	0.3744	0.4199	1	0	0	UTR3	UTR3	UTR3	SLC6A6(NM_001134367:c.*23G>A,NM_003043:c.*23G>A)	SLC6A6(uc010heg.4:c.*23G>A,uc003byq.4:c.*23G>A)	ENSG00000131389(ENST00000458124:c.*681G>A,ENST00000454876:c.*23G>A,ENST00000360861:c.*23G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	704;53|35	Hom;G>A	2274;0|87
N	N	-	3	14526612	14526613	AT	A	indel	UTR3	*755_*756delinsA	 	 	 	SLC6A6	Slc6a6	ENSG00000131389	solute carrier family 6 member 6	chr3:14444076-14530857	This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Glucose; Psychomotor Performance; Alcoholism; Basophils; Hyperparathyroidism, Secondary	Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues.	Na+/Cl- dependent neurotransmitter transporters	GO:0003333;amino acid transmembrane transport;IBA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015711;organic anion transport;IEA|GO:0015734;taurine transport;IEA|GO:0042918;alkanesulfonate transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1903825;organic acid transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005368;taurine transmembrane transporter activity;IEA|GO:0005369;taurine:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A6	https://www.uniprot.org/uniprot/P31641		https://www.ncbi.nlm.nih.gov/omim/?term=186854	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A6&submit=Quick%0D%6535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A6	rs35363110	0.379792	0	0	1	0	0	UTR3	UTR3	UTR3	SLC6A6(NM_001134367:c.*97_*98delinsA,NM_003043:c.*97_*98delinsA)	SLC6A6(uc010heg.4:c.*97_*98delinsA,uc003byq.4:c.*97_*98delinsA)	ENSG00000131389(ENST00000458124:c.*755_*756delinsA,ENST00000454876:c.*97_*98delinsA,ENST00000360861:c.*97_*98delinsA)	Na	Na	Na	Na	Na	Na	Het;-T	476;14|28	Hom;-T	577;5|32
N	N	-	3	14526656	14526656	A	G	snp	UTR3	*799A>G	 	 	 	SLC6A6	Slc6a6	ENSG00000131389	solute carrier family 6 member 6	chr3:14444076-14530857	This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]	Glucose; Psychomotor Performance; Alcoholism; Basophils; Hyperparathyroidism, Secondary	Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues.	Na+/Cl- dependent neurotransmitter transporters	GO:0003333;amino acid transmembrane transport;IBA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015711;organic anion transport;IEA|GO:0015734;taurine transport;IEA|GO:0042918;alkanesulfonate transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1903825;organic acid transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005368;taurine transmembrane transporter activity;IEA|GO:0005369;taurine:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A6	https://www.uniprot.org/uniprot/P31641		https://www.ncbi.nlm.nih.gov/omim/?term=186854	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A6&submit=Quick%0D%6535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A6	rs1126666	0.346446	0	0	1	0	0	UTR3	UTR3	UTR3	SLC6A6(NM_001134367:c.*141A>G,NM_003043:c.*141A>G)	SLC6A6(uc010heg.4:c.*141A>G,uc003byq.4:c.*141A>G)	ENSG00000131389(ENST00000458124:c.*799A>G,ENST00000454876:c.*141A>G,ENST00000360861:c.*141A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1050;29|37	Hom;A>G	1698;0|55
N	N	-	3	146642355	146642355	T	C	snp	ncRNA_exonic	 	 	 	 	LINC02010																		rs67156303	0.534145	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PLSCR5(dist=318352),ZIC4(dist=461480)	PLSCR5(dist=318352),7SK(dist=294495)	ENSG00000242671	Na	Na	Na	Na	Na	Na	Het;T>C	1029;43|43	Hom;T>C	2779;0|95
N	N	-	3	147377697	147377697	C	T	snp	intergenic	 	 	 	 	NPM1P28																		rs2319333	0.380391	0	0	1	0	0	intergenic	intergenic	intergenic	LOC440982(dist=150000),AGTR1(dist=1037961)	ZIC1(dist=243191),AK098763(dist=280095)	ENSG00000240804(dist=68075),ENSG00000239661(dist=184213)	Na	Na	Na	Na	Na	Na	Het;C>T	76;1|4	Hom;C>T	151;0|7
N	N	-	3	148575156	148575156	C	T	snp	ncRNA_intronic	 	 	 	 	AC092979.1																		rs2331407	0.45647	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CPB1	CPB1	ENSG00000240521	Na	Na	Na	Na	Na	Na	Het;C>T	313;13|14	Hom;C>T	483;0|16
N	N	-	3	148575441	148575441	C	T	snp	ncRNA_intronic	 	 	 	 	AC092979.1																		rs1356259	0.463658	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CPB1	CPB1	ENSG00000240521	Na	Na	Na	Na	Na	Na	Het;C>T	173;7|7	Hom;C>T	210;0|7
N	N	-	3	148714841	148714841	T	TTGTGTGTG	indel	intronic	 	 	 	 	GYG1	Gyg	ENSG00000163754	glycogenin 1	chr3:148709128-148745419	This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]	POLYGLUCOSAN BODY MYOPATHY 2	Mice homozygous for a knock-out allele exhibit partial neonatal lethality due to cardiorespiratory failure, increased glycogen level in skeletal and cardiac muscle, decreased energy expenditure, abnormalities in cellular respiration and muscle electrophysiology, and impaired exercise endurance.	Glycogen breakdown (glycogenolysis)	GO:0005978;glycogen biosynthetic process;TAS|GO:0005980;glycogen catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0005515;protein binding;IPI|GO:0008466;glycogenin glucosyltransferase activity;EXP|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GYG1		https://hpo.jax.org/app/browse/search?q=GYG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603942	http://www.informatics.jax.org/searchtool/Search.do?query=GYG1&submit=Quick%0D%11081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GYG1	Na	0	0	0	1	0	0	intronic	intronic	intronic	GYG1	GYG1	ENSG00000163754	Na	Na	Na	Na	Na	Na	Het;+TGTGTGTG	180;3|3	Hom;+TGTGTGTG	317;0|8
N	N	-	3	148857714	148857714	A	C	snp	intronic	 	 	 	 	HPS3	Hps3	ENSG00000163755	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	chr3:148847371-148891519	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]	Hermansky-Pudlak syndrome; Hermanski-Pudlak Syndrome	Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.		GO:0006996;organelle organization;IEA|GO:0043473;pigmentation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0031084;BLOC-2 complex;IPI	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS3		https://hpo.jax.org/app/browse/search?q=HPS3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606118	http://www.informatics.jax.org/searchtool/Search.do?query=HPS3&submit=Quick%0D%11082ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS3	rs17787099	0.043131	0	0	1	0	0	intronic	intronic	intronic	HPS3	HPS3	ENSG00000163755	Na	Na	Na	Na	Na	Na	Het;A>C	236;5|7	Hom;A>C	472;0|12
N	N	-	3	148863151	148863151	A	G	snp	synonymous SNV	A486G	T162T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HPS3	Hps3	ENSG00000163755	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	chr3:148847371-148891519	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]	Hermansky-Pudlak syndrome; Hermanski-Pudlak Syndrome	Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.		GO:0006996;organelle organization;IEA|GO:0043473;pigmentation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0031084;BLOC-2 complex;IPI	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS3		https://hpo.jax.org/app/browse/search?q=HPS3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606118	http://www.informatics.jax.org/searchtool/Search.do?query=HPS3&submit=Quick%0D%11082ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS3	rs11718908	0.277556	0.2873	0.2409	1	0	0	exonic	exonic	exonic	HPS3	HPS3	ENSG00000163755	synonymous SNV	synonymous SNV	unknown	HPS3:NM_032383:exon5:c.A981G:p.T327T,	HPS3:uc011bnq.1:exon4:c.A486G:p.T162T,HPS3:uc021xfk.1:exon5:c.A660G:p.T220T,HPS3:uc003ewu.1:exon5:c.A981G:p.T327T,	UNKNOWN	Het;A>G	1108;41|51	Hom;A>G	2405;0|91
N	N	-	3	148863395	148863395	T	G	snp	intronic	 	 	 	 	HPS3	Hps3	ENSG00000163755	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	chr3:148847371-148891519	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]	Hermansky-Pudlak syndrome; Hermanski-Pudlak Syndrome	Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.		GO:0006996;organelle organization;IEA|GO:0043473;pigmentation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0031084;BLOC-2 complex;IPI	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS3		https://hpo.jax.org/app/browse/search?q=HPS3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606118	http://www.informatics.jax.org/searchtool/Search.do?query=HPS3&submit=Quick%0D%11082ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS3	rs11715291	0.277756	0	0	1	0	0	intronic	intronic	intronic	HPS3	HPS3	ENSG00000163755	Na	Na	Na	Na	Na	Na	Het;T>G	254;2|10	Hom;T>G	788;0|23
N	N	-	3	148868247	148868247	A	C	snp	intronic	 	 	 	 	HPS3	Hps3	ENSG00000163755	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	chr3:148847371-148891519	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]	Hermansky-Pudlak syndrome; Hermanski-Pudlak Syndrome	Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.		GO:0006996;organelle organization;IEA|GO:0043473;pigmentation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0031084;BLOC-2 complex;IPI	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS3		https://hpo.jax.org/app/browse/search?q=HPS3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606118	http://www.informatics.jax.org/searchtool/Search.do?query=HPS3&submit=Quick%0D%11082ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS3	rs2254913	0.698682	0	0	1	0	0	intronic	intronic	intronic	HPS3	HPS3	ENSG00000163755	Na	Na	Na	Na	Na	Na	Het;A>C	352;13|12	Hom;A>C	367;0|12
N	N	-	3	149087714	149087714	T	C	snp	UTR3	*1733A>G	 	 	 	TM4SF1	Tm4sf1	ENSG00000169908	transmembrane 4 L six family member 1	chr3:149086809-149095652	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]		 		GO:0008150;biological_process;ND	GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TM4SF1			https://www.ncbi.nlm.nih.gov/omim/?term=191155	http://www.informatics.jax.org/searchtool/Search.do?query=TM4SF1&submit=Quick%0D%12594ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TM4SF1	rs6776940	0.892372	0.8894	0.8771	1	0	0	intronic	UTR3	UTR3	TM4SF1	TM4SF1(uc003exc.1:c.*1733A>G)	ENSG00000169908(ENST00000472441:c.*1733A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	723;54|39	Hom;T>C	2627;0|100
N	N	-	3	149182883	149182883	G	A	snp	ncRNA_exonic	 	 	 	 	AC108751.1																		rs10935759	0.192492	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TM4SF1-AS1(dist=78513),TM4SF4(dist=9485)	TM4SF1(dist=87315),TM4SF4(dist=9485)	ENSG00000239408	Na	Na	Na	Na	Na	Na	Het;G>A	70;8|5	Hom;G>A	404;0|14
N	N	-	3	149192564	149192564	A	G	snp	UTR5	-101A>G	 	 	 	TM4SF4	Tm4sf4	ENSG00000169903	transmembrane 4 L six family member 4	chr3:149191761-149221068	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]	Body Composition	 		GO:0042246;tissue regeneration;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TM4SF4			https://www.ncbi.nlm.nih.gov/omim/?term=606567	http://www.informatics.jax.org/searchtool/Search.do?query=TM4SF4&submit=Quick%0D%12591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TM4SF4	rs9793	0.417931	0	0	1	0	0	UTR5	UTR5	UTR5	TM4SF4(NM_004617:c.-101A>G)	TM4SF4(uc003exd.2:c.-101A>G)	ENSG00000169903(ENST00000305354:c.-101A>G,ENST00000465758:c.-101A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	151;2|5	Hom;A>G	345;0|10
N	N	-	3	149192676	149192676	G	A	snp	synonymous SNV	G12A	G4G	aliphatic,neutral	aliphatic,neutral	TM4SF4	Tm4sf4	ENSG00000169903	transmembrane 4 L six family member 4	chr3:149191761-149221068	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]	Body Composition	 		GO:0042246;tissue regeneration;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TM4SF4			https://www.ncbi.nlm.nih.gov/omim/?term=606567	http://www.informatics.jax.org/searchtool/Search.do?query=TM4SF4&submit=Quick%0D%12591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TM4SF4	rs12488126	0.188698	0.2972	0.3106	1	0	0	exonic	exonic	exonic	TM4SF4	TM4SF4	ENSG00000169903	synonymous SNV	synonymous SNV	unknown	TM4SF4:NM_004617:exon1:c.G12A:p.G4G,	TM4SF4:uc003exd.2:exon1:c.G12A:p.G4G,	UNKNOWN	Het;G>A	594;22|26	Hom;G>A	1812;0|62
N	N	-	3	149192851	149192851	G	GC	indel	intronic	 	 	 	 	TM4SF4	Tm4sf4	ENSG00000169903	transmembrane 4 L six family member 4	chr3:149191761-149221068	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]	Body Composition	 		GO:0042246;tissue regeneration;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TM4SF4			https://www.ncbi.nlm.nih.gov/omim/?term=606567	http://www.informatics.jax.org/searchtool/Search.do?query=TM4SF4&submit=Quick%0D%12591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TM4SF4	rs143312618	0.418131	0.6836	0.6565	1	0	0	intronic	intronic	intronic	TM4SF4	TM4SF4	ENSG00000169903	Na	Na	Na	Na	Na	Na	Het;+C	900;61|33	Hom;+C	3734;2|103
N	N	-	3	149243694	149243694	G	C	snp	intronic	 	 	 	 	WWTR1	Wwtr1	ENSG00000018408	WW domain containing transcription regulator 1	chr3:149235022-149454501		atherosclerosis; Erythrocyte Indices; Behcet Syndrome	Mice homozygous for a null mutation display polycystic kidneys, elevated blood urea nitrogen, partial postnatal lethality, premature death, reduced litter sizes, and mildly reduced body size.	RUNX3 regulates YAP1-mediated transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0016567;protein ubiquitination;IEA|GO:0017145;stem cell division;IDA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032835;glomerulus development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0035329;hippo signaling;TAS|GO:0035414;negative regulation of catenin import into nucleus;IMP|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048762;mesenchymal cell differentiation;IEA|GO:0060271;cilium assembly;IEA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0060993;kidney morphogenesis;IEA|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WWTR1	https://www.uniprot.org/uniprot/Q9GZV5		https://www.ncbi.nlm.nih.gov/omim/?term=607392	http://www.informatics.jax.org/searchtool/Search.do?query=WWTR1&submit=Quick%0D%638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWTR1	rs9854499	0.837859	0	0	1	0	0	intronic	intronic	intronic	WWTR1	WWTR1	ENSG00000018408	Na	Na	Na	Na	Na	Na	Het;G>C	76;2|3	Hom;G>C	162;0|5
N	N	-	3	1495141	1495141	A	G	snp	intergenic	 	 	 	 	CNTN6	Cntn6	ENSG00000134115	contactin 6	chr3:1134260-1445901	The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Depressive Disorder, Major; Intercellular Adhesion Molecule-1; Myocardial Infarction; Lipoproteins, VLDL; Prostatic Neoplasms; Hip; Echocardiography; several psychiatric disorders; Body Weights and Measures; Magnesium; Psychiatric Disorders; Cystatins; Tobacco Use Disorder	Mice homozygous for disruption of this gene display impaired coordination without any obvious morphological of physiological abnormalities in the brain.	CHL1 interactions	GO:0007155;cell adhesion;TAS|GO:0007219;Notch signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007417;central nervous system development;TAS|GO:0022008;neurogenesis;IEA|GO:0030182;neuron differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA	GO:0005112;Notch binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNTN6	https://www.uniprot.org/uniprot/Q9UQ52		https://www.ncbi.nlm.nih.gov/omim/?term=607220	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN6&submit=Quick%0D%6915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN6	rs2122994	0.749201	0	0	1	0	0	intergenic	intergenic	intergenic	CNTN6(dist=49849),CNTN4(dist=645409)	CNTN6(dist=49863),CNTN4(dist=645409)	ENSG00000134115(dist=49240),ENSG00000184423(dist=142320)	Na	Na	Na	Na	Na	Na	Het;A>G	475;40|28	Hom;A>G	905;1|33
N	N	-	3	149564075	149564075	A	G	snp	intronic	 	 	 	 	RNF13	Rnf13	ENSG00000082996	ring finger protein 13	chr3:149530495-149679926	The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]	Waist-Hip Ratio	 		GO:0016567;protein ubiquitination;IEA|GO:0051865;protein autoubiquitination;ISS	GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004842;ubiquitin-protein transferase activity;ISS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF13	https://www.uniprot.org/uniprot/O43567	https://hpo.jax.org/app/browse/search?q=RNF13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609247	http://www.informatics.jax.org/searchtool/Search.do?query=RNF13&submit=Quick%0D%1815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF13	rs6440641	0.879992	0	0	1	0	0	intronic	intronic	intronic	RNF13	RNF13	ENSG00000082996	Na	Na	Na	Na	Na	Na	Het;A>G	186;2|6	Hom;A>G	161;0|5
N	N	-	3	149690484	149690484	T	TTTA	indel	ncRNA_exonic	 	 	 	 	LOC646903																		rs140046102	0.795527	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	LOC646903	LOC646903	ENSG00000268175(ENST00000593416:c.*956T>TTTA)	Na	Na	Na	Na	Na	Na	Het;+TTA	2436;75|65	Hom;+TTA	5819;0|132
N	N	-	3	149769036	149769037	CT	C	indel	ncRNA_exonic	 	 	 	 	AC022494.1																		rs397991365	0.863419	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC646903(dist=78007),LINC01213(dist=187269)	LOC646903(dist=78007),TSC22D2(dist=357751)	ENSG00000240477	Na	Na	Na	Na	Na	Na	Het;-T	149;17|11	Hom;-T	319;2|17
N	N	-	3	149868284	149868284	C	A	snp	ncRNA_intronic	 	 	 	 	AC117386.2																		rs72993638	0.183307	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC646903(dist=177255),LINC01213(dist=88022)	LOC646903(dist=177255),TSC22D2(dist=258504)	ENSG00000243944	Na	Na	Na	Na	Na	Na	Het;C>A	515;24|24	Hom;C>A	1193;0|45
N	N	-	3	150262318	150262318	C	T	snp	intronic	 	 	 	 	SERP1	Serp1	ENSG00000120742	stress associated endoplasmic reticulum protein 1	chr3:150259781-150321015		Type 2 Diabetes| edema | rosiglitazone	Targeted mutation results in postnatal growth retardation, decreased viablilty, impaired glucose tolerance, impaired growth hormone secretion and reduced size of some exocrine glands as well as exocrine gland target tissues	XBP1(S) activates chaperone genes	GO:0001501;skeletal system development;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006464;cellular protein modification process;TAS|GO:0006486;protein glycosylation;TAS|GO:0006810;transport;IEA|GO:0006950;response to stress;TAS|GO:0007009;plasma membrane organization;TAS|GO:0009791;post-embryonic development;IEA|GO:0010259;multicellular organism aging;IEA|GO:0015031;protein transport;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0045727;positive regulation of translation;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0048644;muscle organ morphogenesis;IEA|GO:0060124;positive regulation of growth hormone secretion;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;TAS|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SERP1	https://www.uniprot.org/uniprot/Q9Y6X1			http://www.informatics.jax.org/searchtool/Search.do?query=SERP1&submit=Quick%0D%5247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERP1	rs1533816	0.319688	0.3092	0.3434	1	0	0	intronic	intronic	intronic	SERP1	SERP1	ENSG00000120742	Na	Na	Na	Na	Na	Na	Het;C>T	306;22|16	Hom;C>T	717;0|26
N	N	-	3	150329063	150329063	C	G	snp	ncRNA_exonic	 	 	 	 	AC069236.1																		rs6440686	0.314297	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SELT	SELT	ENSG00000271711	Na	Na	Na	Na	Na	Na	Het;C>G	721;44|34	Hom;C>G	2079;0|69
N	N	-	3	150329485	150329485	C	T	snp	ncRNA_exonic	 	 	 	 	AC069236.1																		rs12631340	0.313898	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SELT	SELT	ENSG00000271711	Na	Na	Na	Na	Na	Na	Het;C>T	500;31|27	Hom;C>T	1367;1|56
N	N	-	3	150403749	150403749	T	C	snp	intronic	 	 	 	 	ERICH6	Erich6																	rs4680107	0.346645	0.3346	0.3276	1	0	0	intronic	intronic	intronic	ERICH6	FAM194A	ENSG00000163645	Na	Na	Na	Na	Na	Na	Het;T>C	966;49|42	Hom;T>C	1770;0|62
N	N	-	3	150421419	150421419	G	A	snp	synonymous SNV	C267T	D89D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FAM194A	 																	rs17281287	0.323083	0.4050	0.4131	1	0	0	exonic	exonic	exonic	ERICH6	FAM194A	ENSG00000163645	synonymous SNV	synonymous SNV	unknown	ERICH6:NM_152394:exon1:c.C267T:p.D89D,	FAM194A:uc003eyg.3:exon1:c.C267T:p.D89D,	UNKNOWN	Het;G>A	2622;136|120	Hom;G>A	6702;2|259
N	N	-	3	150452298	150452298	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101928105																		rs78512118	0.0567093	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928105	FAM194A(dist=30556),SIAH2(dist=6612)	ENSG00000244668(dist=13675),ENSG00000181788(dist=6616)	Na	Na	Na	Na	Na	Na	Het;G>A	1932;73|90	Hom;G>A	3575;1|130
N	N	-	3	150452545	150452545	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928105																		rs1520818	0.191693	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101928105	FAM194A(dist=30803),SIAH2(dist=6365)	ENSG00000244668(dist=13922),ENSG00000181788(dist=6369)	Na	Na	Na	Na	Na	Na	Het;T>C	2044;99|102	Hom;T>C	4622;1|172
N	N	-	3	150834015	150834015	G	A	snp	intronic	 	 	 	 	MED12L	Med12l	ENSG00000144893	mediator complex subunit 12 like	chr3:150803484-151154860	The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]	Tumor Necrosis Factor-alpha; Cholesterol; Cholesterol, LDL; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Tobacco Use Disorder; Blood Pressure	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA|GO:0016592;mediator complex;IEA	GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0001105;RNA polymerase II transcription coactivator activity;IBA|GO:0008013;beta-catenin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MED12L	https://www.uniprot.org/uniprot/Q86YW9		https://www.ncbi.nlm.nih.gov/omim/?term=611318	http://www.informatics.jax.org/searchtool/Search.do?query=MED12L&submit=Quick%0D%8679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED12L	rs4680158	0.815096	0	0	1	0	0	intronic	intronic	intronic	MED12L	MED12L	ENSG00000144893	Na	Na	Na	Na	Na	Na	Het;G>A	59;3|3	Hom;G>A	238;0|7
N	N	-	3	150883600	150883600	C	T	snp	intronic	 	 	 	 	MED12L	Med12l	ENSG00000144893	mediator complex subunit 12 like	chr3:150803484-151154860	The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]	Tumor Necrosis Factor-alpha; Cholesterol; Cholesterol, LDL; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Tobacco Use Disorder; Blood Pressure	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA|GO:0016592;mediator complex;IEA	GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0001105;RNA polymerase II transcription coactivator activity;IBA|GO:0008013;beta-catenin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MED12L	https://www.uniprot.org/uniprot/Q86YW9		https://www.ncbi.nlm.nih.gov/omim/?term=611318	http://www.informatics.jax.org/searchtool/Search.do?query=MED12L&submit=Quick%0D%8679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED12L	rs2567322	0.330072	0.4151	0.4918	1	0	0	intronic	intronic	intronic	MED12L	MED12L	ENSG00000144893	Na	Na	Na	Na	Na	Na	Het;C>T	1346;68|64	Hom;C>T	2975;0|112
N	N	-	3	150908844	150908844	G	A	snp	intronic	 	 	 	 	MED12L	Med12l	ENSG00000144893	mediator complex subunit 12 like	chr3:150803484-151154860	The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]	Tumor Necrosis Factor-alpha; Cholesterol; Cholesterol, LDL; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Tobacco Use Disorder; Blood Pressure	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA|GO:0016592;mediator complex;IEA	GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0001105;RNA polymerase II transcription coactivator activity;IBA|GO:0008013;beta-catenin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MED12L	https://www.uniprot.org/uniprot/Q86YW9		https://www.ncbi.nlm.nih.gov/omim/?term=611318	http://www.informatics.jax.org/searchtool/Search.do?query=MED12L&submit=Quick%0D%8679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED12L	rs2141630	0.821685	0	0	1	0	0	intronic	intronic	intronic	MED12L	MED12L	ENSG00000144893	Na	Na	Na	Na	Na	Na	Het;G>A	108;9|7	Hom;G>A	271;0|9
N	N	-	3	151542737	151542737	G	A	snp	ncRNA_intronic	 	 	 	 	AADACL2-AS1																		rs13098550	0.734625	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	AADACL2-AS1	AADAC	ENSG00000242908	Na	Na	Na	Na	Na	Na	Het;G>A	137;0|4	Hom;G>A	290;0|8
N	N	-	3	153742983	153742983	T	C	snp	ncRNA_exonic	 	 	 	 	ARHGEF26-AS1																		rs1060651	0.40595	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ARHGEF26-AS1	ARHGEF26-AS1	ENSG00000243069	Na	Na	Na	Na	Na	Na	Het;T>C	1474;94|71	Hom;T>C	4464;1|168
N	N	-	3	153743109	153743109	A	G	snp	ncRNA_exonic	 	 	 	 	ARHGEF26-AS1																		rs1060650	0.401558	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ARHGEF26-AS1	ARHGEF26-AS1	ENSG00000243069	Na	Na	Na	Na	Na	Na	Het;A>G	1563;78|71	Hom;A>G	3974;1|147
N	N	-	3	153743125	153743125	T	C	snp	ncRNA_exonic	 	 	 	 	ARHGEF26-AS1																		rs1060649	0.40655	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ARHGEF26-AS1	ARHGEF26-AS1	ENSG00000243069	Na	Na	Na	Na	Na	Na	Het;T>C	1800;79|78	Hom;T>C	4113;1|142
N	N	-	3	153743620	153743620	A	C	snp	ncRNA_exonic	 	 	 	 	ARHGEF26-AS1																		rs9839828	0.40655	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ARHGEF26-AS1	ARHGEF26-AS1	ENSG00000243069	Na	Na	Na	Na	Na	Na	Het;A>C	477;18|20	Hom;A>C	672;0|22
N	N	-	3	153743842	153743842	C	T	snp	ncRNA_exonic	 	 	 	 	ARHGEF26-AS1																		rs9878030	0.40635	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ARHGEF26-AS1	ARHGEF26-AS1	ENSG00000243069	Na	Na	Na	Na	Na	Na	Het;C>T	884;62|40	Hom;C>T	2847;0|104
N	N	-	3	153743950	153743950	C	T	snp	ncRNA_exonic	 	 	 	 	ARHGEF26-AS1																		rs9882021	0.40615	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ARHGEF26-AS1	ARHGEF26-AS1	ENSG00000243069	Na	Na	Na	Na	Na	Na	Het;C>T	606;47|27	Hom;C>T	2251;2|83
N	N	-	3	153744207	153744207	T	C	snp	ncRNA_exonic	 	 	 	 	ARHGEF26-AS1																		rs9827003	0.40615	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ARHGEF26-AS1	ARHGEF26-AS1	ENSG00000243069	Na	Na	Na	Na	Na	Na	Het;T>C	1022;73|47	Hom;T>C	2924;0|106
N	N	-	3	154928522	154928522	G	A	snp	intergenic	 	 	 	 	MME	Mme	ENSG00000196549	membrane metalloendopeptidase	chr3:154741913-154901497	This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; cerebral amyloid angiopathy.; anxiety; Alzheimer's disease; low amplitude P300 waves; Alzheimer's disease ; atherosclerosis; Bulimia; Cardiovascular Diseases; Body Height; attention deficit disorder conduct disorder oppositional defiant disorder; null; Alzheimer's Disease	Mice homozygous for a knock-out allele exhibit enhanced allergic contact dermatitis responses, diffuse hepatic necrosis after LPS shock or treatment with a combination of TNF and interleukin-1 beta, and increased brain and plasma amyloid beta peptide levels.	Neutrophil degranulation	GO:0001822;kidney development;IEP|GO:0002003;angiotensin maturation;TAS|GO:0006508;proteolysis;IDA|GO:0006518;peptide metabolic process;ISS|GO:0019233;sensory perception of pain;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0046449;creatinine metabolic process;IMP|GO:0050435;beta-amyloid metabolic process;ISS|GO:0071345;cellular response to cytokine stimulus;IDA|GO:0071492;cellular response to UV-A;IDA|GO:0071493;cellular response to UV-B;IDA|GO:0090399;replicative senescence;IEP	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005903;brush border;IDA|GO:0005925;focal adhesion;IDA|GO:0008021;synaptic vesicle;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0030667;secretory granule membrane;TAS|GO:0044306;neuron projection terminus;ISS|GO:0045202;synapse;ISS|GO:0070062;extracellular exosome;IDA	GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;EXP|GO:0008238;exopeptidase activity;IDA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MME		https://hpo.jax.org/app/browse/search?q=MME&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120520	http://www.informatics.jax.org/searchtool/Search.do?query=MME&submit=Quick%0D%16398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MME	rs12633611	0.585663	0	0	1	0	0	intergenic	intergenic	intergenic	MME(dist=27004),LINC01487(dist=30212)	MME(dist=27004),BC037382(dist=30212)	ENSG00000196549(dist=27025),ENSG00000241336(dist=30212)	Na	Na	Na	Na	Na	Na	Het;G>A	196;5|10	Hom;G>A	298;0|11
N	N	-	3	155205993	155205993	C	CT	indel	intronic	 	 	 	 	PLCH1	Plch1	ENSG00000114805	phospholipase C eta 1	chr3:155093369-155462856	PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]	Type 2 Diabetes| edema | rosiglitazone; Body Mass Index; Blood Pressure Determination; Fibrinogen; Aorta	 	Synthesis of IP3 and IP4 in the cytosol	GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050429;calcium-dependent phospholipase C activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PLCH1	https://www.uniprot.org/uniprot/Q4KWH8		https://www.ncbi.nlm.nih.gov/omim/?term=612835	http://www.informatics.jax.org/searchtool/Search.do?query=PLCH1&submit=Quick%0D%4508ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCH1	rs368444721	0.355232	0	0	1	0	0	intronic	intronic	intronic	PLCH1	PLCH1	ENSG00000114805	Na	Na	Na	Na	Na	Na	Het;+T	76;1|5	Hom;+T	54;1|5
N	N	-	3	155485302	155485302	C	T	snp	nonsynonymous SNV	G350A	S117N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C3orf33	E130311K13Rik	ENSG00000174928	chromosome 3 open reading frame 33	chr3:155480401-155524140		Body Height; Body Weight	 		GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C3orf33				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf33&submit=Quick%0D%13601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf33	rs358733	0.841054	0.7947	0.8240	0.15	2	13	exonic	exonic	exonic	C3orf33	C3orf33	ENSG00000174928	nonsynonymous SNV	nonsynonymous SNV	unknown	C3orf33:NM_173657:exon5:c.G350A:p.S117N,	C3orf33:uc003fam.1:exon4:c.G479A:p.S160N,C3orf33:uc003fal.1:exon5:c.G350A:p.S117N,	UNKNOWN	Het;C>T	747;46|39	Hom;C>T	1997;0|79
N	N	-	3	155520356	155520356	C	T	snp	nonsynonymous SNV	G10A	A4T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	C3orf33	E130311K13Rik	ENSG00000174928	chromosome 3 open reading frame 33	chr3:155480401-155524140		Body Height; Body Weight	 		GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C3orf33				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf33&submit=Quick%0D%13601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf33	rs9853408	0.0830671	0.0608	0.0302	0.31	4	13	exonic	exonic	exonic	C3orf33	C3orf33	ENSG00000174928	nonsynonymous SNV	nonsynonymous SNV	unknown	C3orf33:NM_173657:exon3:c.G10A:p.A4T,	C3orf33:uc003fam.1:exon2:c.G139A:p.A47T,C3orf33:uc003fal.1:exon3:c.G10A:p.A4T,	UNKNOWN	Het;C>T	467;30|25	Hom;C>T	1019;1|41
N	N	-	3	155524015	155524015	G	A	snp	synonymous SNV	C27T	G9G	aliphatic,neutral	aliphatic,neutral	C3orf33	E130311K13Rik	ENSG00000174928	chromosome 3 open reading frame 33	chr3:155480401-155524140		Body Height; Body Weight	 		GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C3orf33				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf33&submit=Quick%0D%13601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf33	rs114877878	0.121206	0	0.0356	1	0	0	UTR5	exonic	exonic	C3orf33(NM_173657:c.-3650C>T)	C3orf33	ENSG00000174928	Na	synonymous SNV	unknown	Na	C3orf33:uc003fam.1:exon1:c.C27T:p.G9G,	UNKNOWN	Het;G>A	812;37|40	Hom;G>A	1650;0|65
N	N	-	3	155544380	155544380	T	C	snp	UTR3	*1619A>G	 	 	 	SLC33A1	Slc33a1	ENSG00000169359	solute carrier family 33 member 1	chr3:155538813-155572218	The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]	Paraplegia; Body Weight; Body Height	Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy.	Transport of vitamins, nucleosides, and related molecules	GO:0006810;transport;TAS|GO:0015876;acetyl-CoA transport;IEA|GO:0015992;proton transport;IEA|GO:0030509;BMP signaling pathway;IDA|GO:0055085;transmembrane transport;TAS|GO:0060395;SMAD protein signal transduction;IDA	GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0008521;acetyl-CoA transporter activity;TAS|GO:0015295;solute:proton symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC33A1		https://hpo.jax.org/app/browse/search?q=SLC33A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603690	http://www.informatics.jax.org/searchtool/Search.do?query=SLC33A1&submit=Quick%0D%12477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC33A1	rs10513483	0.137979	0	0	1	0	0	UTR3	UTR3	UTR3	SLC33A1(NM_004733:c.*1619A>G,NM_001190992:c.*257A>G)	SLC33A1(uc003fan.4:c.*257A>G,uc003fao.2:c.*1619A>G)	ENSG00000169359(ENST00000392845:c.*1619A>G,ENST00000359479:c.*257A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	683;31|31	Hom;T>C	1502;0|54
N	N	-	3	155545819	155545819	C	CA	indel	UTR3	*180G>TG	 	 	 	SLC33A1	Slc33a1	ENSG00000169359	solute carrier family 33 member 1	chr3:155538813-155572218	The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]	Paraplegia; Body Weight; Body Height	Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy.	Transport of vitamins, nucleosides, and related molecules	GO:0006810;transport;TAS|GO:0015876;acetyl-CoA transport;IEA|GO:0015992;proton transport;IEA|GO:0030509;BMP signaling pathway;IDA|GO:0055085;transmembrane transport;TAS|GO:0060395;SMAD protein signal transduction;IDA	GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0008521;acetyl-CoA transporter activity;TAS|GO:0015295;solute:proton symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC33A1		https://hpo.jax.org/app/browse/search?q=SLC33A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603690	http://www.informatics.jax.org/searchtool/Search.do?query=SLC33A1&submit=Quick%0D%12477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC33A1	rs201290926	0.0896565	0	0	1	0	0	UTR3	UTR3	UTR3	SLC33A1(NM_004733:c.*180G>TG)	SLC33A1(uc003fao.2:c.*180G>TG)	ENSG00000169359(ENST00000392845:c.*180G>TG,ENST00000475842:c.*180G>TG)	Na	Na	Na	Na	Na	Na	Het;+A	246;19|16	Hom;+A	983;1|39
N	N	-	3	155551144	155551144	T	C	snp	intronic	 	 	 	 	SLC33A1	Slc33a1	ENSG00000169359	solute carrier family 33 member 1	chr3:155538813-155572218	The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]	Paraplegia; Body Weight; Body Height	Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy.	Transport of vitamins, nucleosides, and related molecules	GO:0006810;transport;TAS|GO:0015876;acetyl-CoA transport;IEA|GO:0015992;proton transport;IEA|GO:0030509;BMP signaling pathway;IDA|GO:0055085;transmembrane transport;TAS|GO:0060395;SMAD protein signal transduction;IDA	GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0008521;acetyl-CoA transporter activity;TAS|GO:0015295;solute:proton symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC33A1		https://hpo.jax.org/app/browse/search?q=SLC33A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603690	http://www.informatics.jax.org/searchtool/Search.do?query=SLC33A1&submit=Quick%0D%12477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC33A1	rs7617024	0.257188	0	0	1	0	0	intronic	intronic	intronic	SLC33A1	SLC33A1	ENSG00000169359	Na	Na	Na	Na	Na	Na	Het;T>C	242;4|9	Hom;T>C	424;0|11
N	N	-	3	155551206	155551206	C	T	snp	intronic	 	 	 	 	SLC33A1	Slc33a1	ENSG00000169359	solute carrier family 33 member 1	chr3:155538813-155572218	The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]	Paraplegia; Body Weight; Body Height	Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy.	Transport of vitamins, nucleosides, and related molecules	GO:0006810;transport;TAS|GO:0015876;acetyl-CoA transport;IEA|GO:0015992;proton transport;IEA|GO:0030509;BMP signaling pathway;IDA|GO:0055085;transmembrane transport;TAS|GO:0060395;SMAD protein signal transduction;IDA	GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0008521;acetyl-CoA transporter activity;TAS|GO:0015295;solute:proton symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC33A1		https://hpo.jax.org/app/browse/search?q=SLC33A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603690	http://www.informatics.jax.org/searchtool/Search.do?query=SLC33A1&submit=Quick%0D%12477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC33A1	rs7649631	0.476837	0.4070	0.3575	1	0	0	intronic	intronic	intronic	SLC33A1	SLC33A1	ENSG00000169359	Na	Na	Na	Na	Na	Na	Het;C>T	598;24|27	Hom;C>T	1078;0|37
N	N	-	3	15613279	15613279	T	TA	indel	intronic	 	 	 	 	HACL1	Hacl1	ENSG00000131373	2-hydroxyacyl-CoA lyase 1	chr3:15602211-15643338			 	Alpha-oxidation of phytanate	GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0051259;protein oligomerization;IDA	GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000287;magnesium ion binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0016830;carbon-carbon lyase activity;TAS|GO:0030976;thiamine pyrophosphate binding;IDA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048037;cofactor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HACL1	https://www.uniprot.org/uniprot/Q9UJ83		https://www.ncbi.nlm.nih.gov/omim/?term=604300	http://www.informatics.jax.org/searchtool/Search.do?query=HACL1&submit=Quick%0D%6528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HACL1	rs200924343	0.123403	0	0.2244	1	0	0	intronic	intronic	intronic	HACL1	HACL1	ENSG00000131373	Na	Na	Na	Na	Na	Na	Het;+A	46;3|4	Hom;+A	191;1|10
N	N	-	3	156528265	156528265	C	T	snp	ncRNA_exonic	 	 	 	 	PA2G4P4																		rs10936037	0.594449	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PA2G4P4	PA2G4P4	ENSG00000230457	Na	Na	Na	Na	Na	Na	Het;C>T	1162;74|55	Hom;C>T	3219;0|114
N	N	-	3	156528401	156528401	G	A	snp	ncRNA_exonic	 	 	 	 	PA2G4P4																		rs9812169	0.608626	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PA2G4P4	PA2G4P4	ENSG00000230457	Na	Na	Na	Na	Na	Na	Het;G>A	2943;155|143	Hom;G>A	7470;0|282
N	N	-	3	156528631	156528631	T	C	snp	ncRNA_exonic	 	 	 	 	PA2G4P4																		rs3796172	0.743011	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	PA2G4P4	PA2G4P4	ENSG00000240875	Na	Na	Na	Na	Na	Na	Het;T>C	2891;85|124	Hom;T>C	5886;0|210
N	N	-	3	156529394	156529394	C	G	snp	ncRNA_exonic	 	 	 	 	PA2G4P4																		rs7641929	0.608826	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	PA2G4P4	PA2G4P4	ENSG00000240875	Na	Na	Na	Na	Na	Na	Het;C>G	2216;85|98	Hom;C>G	5036;0|174
N	N	-	3	156534628	156534628	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00886																		rs11717138	0.742812	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00886	LINC00886	ENSG00000240875	Na	Na	Na	Na	Na	Na	Het;T>C	185;13|10	Hom;T>C	727;0|28
N	N	-	3	156628312	156628312	C	T	snp	intronic	 	 	 	 	LEKR1	Lekr1	ENSG00000197980	leucine, glutamate and lysine rich 1	chr3:156543270-156763918		Birth Weight; Multiple Sclerosis; Iron; Parkinson Disease; Body Weight Changes; multiple sclerosis (severity)	 					http://www.genecards.org/index.php?path=/Search/keyword/LEKR1			https://www.ncbi.nlm.nih.gov/omim/?term=613536	http://www.informatics.jax.org/searchtool/Search.do?query=LEKR1&submit=Quick%0D%16776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LEKR1	rs4680314	0.85004	0	0	1	0	0	intronic	intronic	intronic	LEKR1	LEKR1	ENSG00000197980	Na	Na	Na	Na	Na	Na	Het;C>T	178;1|9	Hom;C>T	106;0|5
N	N	-	3	156695609	156695609	T	A	snp	ncRNA_exonic	 	 	 	 	KLF3P2																		rs1384538	0.536941	0	0	1	0	0	intronic	intronic	ncRNA_exonic	LEKR1	LEKR1	ENSG00000241879	Na	Na	Na	Na	Na	Na	Het;T>A	41;6|4	Hom;T>A	58;0|3
N	N	-	3	156697097	156697097	G	A	snp	UTR5	-13773G>A	 	 	 	LEKR1	Lekr1	ENSG00000197980	leucine, glutamate and lysine rich 1	chr3:156543270-156763918		Birth Weight; Multiple Sclerosis; Iron; Parkinson Disease; Body Weight Changes; multiple sclerosis (severity)	 					http://www.genecards.org/index.php?path=/Search/keyword/LEKR1			https://www.ncbi.nlm.nih.gov/omim/?term=613536	http://www.informatics.jax.org/searchtool/Search.do?query=LEKR1&submit=Quick%0D%16776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LEKR1	rs6780427	0.537141	0.5004	0.5758	1	0	0	intronic	intronic	UTR5	LEKR1	LEKR1	ENSG00000197980(ENST00000470811:c.-13773G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1212;57|59	Hom;G>A	4068;0|153
N	N	-	3	156742775	156742775	C	T	snp	intronic	 	 	 	 	LEKR1	Lekr1	ENSG00000197980	leucine, glutamate and lysine rich 1	chr3:156543270-156763918		Birth Weight; Multiple Sclerosis; Iron; Parkinson Disease; Body Weight Changes; multiple sclerosis (severity)	 					http://www.genecards.org/index.php?path=/Search/keyword/LEKR1			https://www.ncbi.nlm.nih.gov/omim/?term=613536	http://www.informatics.jax.org/searchtool/Search.do?query=LEKR1&submit=Quick%0D%16776ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LEKR1	rs11715321	0.600439	0	0	1	0	0	intronic	intronic	intronic	LEKR1	LEKR1	ENSG00000197980	Na	Na	Na	Na	Na	Na	Het;C>T	386;27|20	Hom;C>T	1153;0|41
N	N	-	3	157082082	157082082	C	CAA	indel	ncRNA_intronic	 	 	 	 	AC092944.1																		rs3833585	0.781949	0.7173	0.7148	1	0	0	intronic	intronic	ncRNA_intronic	VEPH1	VEPH1	ENSG00000243176	Na	Na	Na	Na	Na	Na	Het;+AA	718;42|21	Hom;+AA	2448;0|53
N	N	-	3	157154861	157154861	A	G	snp	intronic	 	 	 	 	PTX3	Ptx3	ENSG00000163661	pentraxin 3	chr3:157154578-157161417	This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]	PTX3 production and fertility; Lymphadenitis|Mycobacterium Infections|Periodontitis; Type 2 Diabetes| edema | rosiglitazone; tuberculosis	Homozygous mutant mice display female subfertility due to abnormalities of the cumulus oophorus and are susceptible to invasive pulmonary aspergillosis associated with defective recognition of conidia by alveolar macrophages and dendritic cells and impaired induction of adaptive type 2 responses.	Neutrophil degranulation	GO:0001878;response to yeast;IEA|GO:0006954;inflammatory response;TAS|GO:0008228;opsonization;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044869;negative regulation by host of viral exo-alpha-sialidase activity;IDA|GO:0044871;negative regulation by host of viral glycoprotein metabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0046597;negative regulation of viral entry into host cell;IDA|GO:0050766;positive regulation of phagocytosis;IEA|GO:1903016;negative regulation of exo-alpha-sialidase activity;IDA|GO:1903019;negative regulation of glycoprotein metabolic process;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS	GO:0001849;complement component C1q binding;IDA|GO:0001872;(1->3)-beta-D-glucan binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046790;virion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PTX3			https://www.ncbi.nlm.nih.gov/omim/?term=602492	http://www.informatics.jax.org/searchtool/Search.do?query=PTX3&submit=Quick%0D%11050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX3	rs2305619	0.5627	0.4871	0.5422	1	0	0	intronic	intronic	intronic	PTX3,VEPH1	PTX3,VEPH1	ENSG00000163661,ENSG00000197415	Na	Na	Na	Na	Na	Na	Het;A>G	1002;36|48	Hom;A>G	2456;0|90
N	N	-	3	157155314	157155314	C	A	snp	nonsynonymous SNV	C143A	A48D	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	PTX3	Ptx3	ENSG00000163661	pentraxin 3	chr3:157154578-157161417	This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]	PTX3 production and fertility; Lymphadenitis|Mycobacterium Infections|Periodontitis; Type 2 Diabetes| edema | rosiglitazone; tuberculosis	Homozygous mutant mice display female subfertility due to abnormalities of the cumulus oophorus and are susceptible to invasive pulmonary aspergillosis associated with defective recognition of conidia by alveolar macrophages and dendritic cells and impaired induction of adaptive type 2 responses.	Neutrophil degranulation	GO:0001878;response to yeast;IEA|GO:0006954;inflammatory response;TAS|GO:0008228;opsonization;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044869;negative regulation by host of viral exo-alpha-sialidase activity;IDA|GO:0044871;negative regulation by host of viral glycoprotein metabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0046597;negative regulation of viral entry into host cell;IDA|GO:0050766;positive regulation of phagocytosis;IEA|GO:1903016;negative regulation of exo-alpha-sialidase activity;IDA|GO:1903019;negative regulation of glycoprotein metabolic process;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS	GO:0001849;complement component C1q binding;IDA|GO:0001872;(1->3)-beta-D-glucan binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046790;virion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PTX3			https://www.ncbi.nlm.nih.gov/omim/?term=602492	http://www.informatics.jax.org/searchtool/Search.do?query=PTX3&submit=Quick%0D%11050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX3	rs3816527	0.714657	0.6321	0.6566	0.23	3	13	exonic	exonic	exonic	PTX3	PTX3	ENSG00000163661	nonsynonymous SNV	nonsynonymous SNV	unknown	PTX3:NM_002852:exon2:c.C143A:p.A48D,	PTX3:uc003fbl.4:exon2:c.C143A:p.A48D,	UNKNOWN	Het;C>A	583;41|31	Hom;C>A	1711;0|64
N	N	-	3	157516323	157516323	C	CT	indel	intergenic	 	 	 	 	PQLC2L																		rs11435307	0.364417	0	0	1	0	0	intergenic	intergenic	intergenic	PQLC2L(dist=197302),SHOX2(dist=297477)	C3orf55(dist=197302),7SK(dist=131958)	ENSG00000174899(dist=120785),ENSG00000251751(dist=131958)	Na	Na	Na	Na	Na	Na	Het;+T	365;6|20	Hom;+T	817;2|35
N	N	-	3	157567963	157567963	A	C	snp	intergenic	 	 	 	 	PQLC2L																		rs953427	0.621805	0	0	1	0	0	intergenic	intergenic	intergenic	PQLC2L(dist=248942),SHOX2(dist=245837)	C3orf55(dist=248942),7SK(dist=80318)	ENSG00000174899(dist=172425),ENSG00000251751(dist=80318)	Na	Na	Na	Na	Na	Na	Het;A>C	702;58|38	Hom;A>C	2669;0|105
N	N	-	3	159712054	159712054	G	T	snp	ncRNA_exonic	 	 	 	 	IL12A-AS1																		rs2227314	0.527955	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	IL12A-AS1	AK097161	ENSG00000244040	Na	Na	Na	Na	Na	Na	Het;G>T	784;51|23	Hom;G>T	1141;0|36
N	N	-	3	159715551	159715551	G	A	snp	ncRNA_intronic	 	 	 	 	AK097161																		rs668998	0.576078	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	IL12A-AS1	AK097161	ENSG00000244040	Na	Na	Na	Na	Na	Na	Het;G>A	157;1|7	Hom;G>A	161;0|6
N	N	-	3	159924899	159924899	A	T	snp	upstream	 	 	 	 	AK097161																		rs3920771	0.332268	0	0	1	0	0	upstream	upstream	ncRNA_intronic	IL12A-AS1	AK097161	ENSG00000244040	Na	Na	Na	Na	Na	Na	Het;A>T	694;24|32	Hom;A>T	2543;0|90
N	N	-	3	160003677	160003677	T	C	snp	intronic	 	 	 	 	IFT80	Ift80	ENSG00000068885	intraflagellar transport 80	chr3:159974774-160117668	The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]	ASPHYXIATING THORACIC DYSTROPHY 2	Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium.	Intraflagellar transport	GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0060271;cilium assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IBA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IBA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS		http://www.genecards.org/index.php?path=/Search/keyword/IFT80	https://www.uniprot.org/uniprot/Q9P2H3	https://hpo.jax.org/app/browse/search?q=IFT80&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611177	http://www.informatics.jax.org/searchtool/Search.do?query=IFT80&submit=Quick%0D%1300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT80	rs2275151	0.158147	0.1952	0.2429	1	0	0	intronic	intronic	intronic	IFT80	IFT80	ENSG00000068885,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;T>C	565;29|28	Hom;T>C	1120;0|43
N	N	-	3	160021681	160021681	G	A	snp	intronic	 	 	 	 	IFT80	Ift80	ENSG00000068885	intraflagellar transport 80	chr3:159974774-160117668	The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]	ASPHYXIATING THORACIC DYSTROPHY 2	Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium.	Intraflagellar transport	GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0060271;cilium assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IBA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IBA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS		http://www.genecards.org/index.php?path=/Search/keyword/IFT80	https://www.uniprot.org/uniprot/Q9P2H3	https://hpo.jax.org/app/browse/search?q=IFT80&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611177	http://www.informatics.jax.org/searchtool/Search.do?query=IFT80&submit=Quick%0D%1300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT80	rs4680576	0.441294	0.5383	0.4898	1	0	0	intronic	intronic	intronic	IFT80	IFT80	ENSG00000068885,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;G>A	387;27|21	Hom;G>A	1447;0|56
N	N	-	3	160130110	160130110	G	A	snp	intronic	 	 	 	 	SMC4	Smc4	ENSG00000113810	structural maintenance of chromosomes 4	chr3:160117062-160152750	This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]	longevity	 	Condensation of Prometaphase Chromosomes	GO:0000070;mitotic sister chromatid segregation;TAS|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IDA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030261;chromosome condensation;IEA|GO:0045132;meiotic chromosome segregation;IEA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051383;kinetochore organization;IEA	GO:0000796;condensin complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMC4	https://www.uniprot.org/uniprot/Q9NTJ3		https://www.ncbi.nlm.nih.gov/omim/?term=605575	http://www.informatics.jax.org/searchtool/Search.do?query=SMC4&submit=Quick%0D%4410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC4	rs2305407	0.435304	0.5307	0.4878	1	0	0	intronic	intronic	intronic	SMC4	SMC4	ENSG00000113810,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;G>A	1327;47|65	Hom;G>A	2846;0|108
N	N	-	3	160135428	160135428	C	T	snp	intronic	 	 	 	 	SMC4	Smc4	ENSG00000113810	structural maintenance of chromosomes 4	chr3:160117062-160152750	This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]	longevity	 	Condensation of Prometaphase Chromosomes	GO:0000070;mitotic sister chromatid segregation;TAS|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IDA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030261;chromosome condensation;IEA|GO:0045132;meiotic chromosome segregation;IEA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051383;kinetochore organization;IEA	GO:0000796;condensin complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMC4	https://www.uniprot.org/uniprot/Q9NTJ3		https://www.ncbi.nlm.nih.gov/omim/?term=605575	http://www.informatics.jax.org/searchtool/Search.do?query=SMC4&submit=Quick%0D%4410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC4	rs1451760	0.30611	0	0	1	0	0	intronic	intronic	intronic	SMC4	SMC4	ENSG00000113810,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;C>T	87;7|4	Hom;C>T	476;0|17
N	N	-	3	160137363	160137363	C	CT	indel	intronic	 	 	 	 	SMC4	Smc4	ENSG00000113810	structural maintenance of chromosomes 4	chr3:160117062-160152750	This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]	longevity	 	Condensation of Prometaphase Chromosomes	GO:0000070;mitotic sister chromatid segregation;TAS|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IDA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030261;chromosome condensation;IEA|GO:0045132;meiotic chromosome segregation;IEA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051383;kinetochore organization;IEA	GO:0000796;condensin complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMC4	https://www.uniprot.org/uniprot/Q9NTJ3		https://www.ncbi.nlm.nih.gov/omim/?term=605575	http://www.informatics.jax.org/searchtool/Search.do?query=SMC4&submit=Quick%0D%4410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC4	rs142795307	0.205272	0.2145	0.2767	1	0	0	intronic	intronic	intronic	SMC4	SMC4	ENSG00000113810,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;+T	428;21|26	Hom;+T	1687;5|74
N	N	-	3	160141147	160141147	G	T	snp	intronic	 	 	 	 	SMC4	Smc4	ENSG00000113810	structural maintenance of chromosomes 4	chr3:160117062-160152750	This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]	longevity	 	Condensation of Prometaphase Chromosomes	GO:0000070;mitotic sister chromatid segregation;TAS|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IDA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030261;chromosome condensation;IEA|GO:0045132;meiotic chromosome segregation;IEA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051383;kinetochore organization;IEA	GO:0000796;condensin complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMC4	https://www.uniprot.org/uniprot/Q9NTJ3		https://www.ncbi.nlm.nih.gov/omim/?term=605575	http://www.informatics.jax.org/searchtool/Search.do?query=SMC4&submit=Quick%0D%4410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC4	rs4679884	0	0	0	1	0	0	intronic	intronic	intronic	SMC4	SMC4	ENSG00000113810,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;G>T	40;3|3	Hom;G>T	128;0|5
N	N	-	3	160142618	160142618	A	C	snp	intronic	 	 	 	 	SMC4	Smc4	ENSG00000113810	structural maintenance of chromosomes 4	chr3:160117062-160152750	This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]	longevity	 	Condensation of Prometaphase Chromosomes	GO:0000070;mitotic sister chromatid segregation;TAS|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IDA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030261;chromosome condensation;IEA|GO:0045132;meiotic chromosome segregation;IEA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051383;kinetochore organization;IEA	GO:0000796;condensin complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMC4	https://www.uniprot.org/uniprot/Q9NTJ3		https://www.ncbi.nlm.nih.gov/omim/?term=605575	http://www.informatics.jax.org/searchtool/Search.do?query=SMC4&submit=Quick%0D%4410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC4	rs11718121	0.30611	0.4059	0.4091	1	0	0	intronic	intronic	intronic	SMC4	SMC4	ENSG00000113810,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;A>C	57;11|4	Hom;A>C	573;0|19
N	N	-	3	160148756	160148756	C	T	snp	intronic	 	 	 	 	SMC4	Smc4	ENSG00000113810	structural maintenance of chromosomes 4	chr3:160117062-160152750	This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]	longevity	 	Condensation of Prometaphase Chromosomes	GO:0000070;mitotic sister chromatid segregation;TAS|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IDA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030261;chromosome condensation;IEA|GO:0045132;meiotic chromosome segregation;IEA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051383;kinetochore organization;IEA	GO:0000796;condensin complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMC4	https://www.uniprot.org/uniprot/Q9NTJ3		https://www.ncbi.nlm.nih.gov/omim/?term=605575	http://www.informatics.jax.org/searchtool/Search.do?query=SMC4&submit=Quick%0D%4410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC4	rs7631792	0.433906	0	0	1	0	0	intronic	intronic	intronic	SMC4	SMC4	ENSG00000113810,ENSG00000248710	Na	Na	Na	Na	Na	Na	Het;C>T	112;2|5	Hom;C>T	396;0|12
N	N	-	3	160170243	160170243	G	A	snp	intronic	 	 	 	 	TRIM59	Trim59	ENSG00000213186	tripartite motif containing 59	chr3:160150233-160203561			Mice homozygous for a knock-out allele exhibit embryonic lethality associated with failure of primary germ layer formation, small embryonic epiblasts, absent mesoderm, and abnormal inner cell mass differentiation.		GO:0016567;protein ubiquitination;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045087;innate immune response;IEA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0060271;cilium assembly;IBA	GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005813;centrosome;IBA|GO:0005929;cilium;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030992;intraciliary transport particle B;IBA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM59			https://www.ncbi.nlm.nih.gov/omim/?term=616148	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM59&submit=Quick%0D%18095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM59	rs12630564	0.179113	0	0	1	0	0	intergenic	intergenic	intronic	TRIM59(dist=2617),KPNA4(dist=42540)	TRIM59(dist=2617),U7(dist=19893)	ENSG00000213186	Na	Na	Na	Na	Na	Na	Het;G>A	1028;89|53	Hom;G>A	3182;2|125
N	N	-	3	160171092	160171092	C	T	snp	ncRNA_exonic	 	 	 	 	B3GAT3P1																		rs56394279	0.335663	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TRIM59(dist=3466),KPNA4(dist=41691)	TRIM59(dist=3466),U7(dist=19044)	ENSG00000244009	Na	Na	Na	Na	Na	Na	Het;C>T	780;42|36	Hom;C>T	2808;0|101
N	N	-	3	160171453	160171453	C	T	snp	intronic	 	 	 	 	TRIM59	Trim59	ENSG00000213186	tripartite motif containing 59	chr3:160150233-160203561			Mice homozygous for a knock-out allele exhibit embryonic lethality associated with failure of primary germ layer formation, small embryonic epiblasts, absent mesoderm, and abnormal inner cell mass differentiation.		GO:0016567;protein ubiquitination;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045087;innate immune response;IEA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0060271;cilium assembly;IBA	GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005813;centrosome;IBA|GO:0005929;cilium;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030992;intraciliary transport particle B;IBA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM59			https://www.ncbi.nlm.nih.gov/omim/?term=616148	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM59&submit=Quick%0D%18095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM59	rs6808083	0.377596	0	0	1	0	0	intergenic	intergenic	intronic	TRIM59(dist=3827),KPNA4(dist=41330)	TRIM59(dist=3827),U7(dist=18683)	ENSG00000213186	Na	Na	Na	Na	Na	Na	Het;C>T	1050;28|45	Hom;C>T	1766;0|63
N	N	-	3	160171476	160171476	G	T	snp	intronic	 	 	 	 	TRIM59	Trim59	ENSG00000213186	tripartite motif containing 59	chr3:160150233-160203561			Mice homozygous for a knock-out allele exhibit embryonic lethality associated with failure of primary germ layer formation, small embryonic epiblasts, absent mesoderm, and abnormal inner cell mass differentiation.		GO:0016567;protein ubiquitination;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045087;innate immune response;IEA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0060271;cilium assembly;IBA	GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005813;centrosome;IBA|GO:0005929;cilium;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030992;intraciliary transport particle B;IBA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM59			https://www.ncbi.nlm.nih.gov/omim/?term=616148	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM59&submit=Quick%0D%18095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM59	rs11709232	0.179513	0	0	1	0	0	intergenic	intergenic	intronic	TRIM59(dist=3850),KPNA4(dist=41307)	TRIM59(dist=3850),U7(dist=18660)	ENSG00000213186	Na	Na	Na	Na	Na	Na	Het;G>T	950;25|44	Hom;G>T	1962;0|74
N	N	-	3	160245948	160245948	A	G	snp	intronic	 	 	 	 	KPNA4	Kpna4	ENSG00000186432	karyopherin subunit alpha 4	chr3:160212783-160283376	The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]	Blood Coagulation Factors; Cholesterol, HDL	 	 NS1 Mediated Effects on Host Pathways	GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0042542;response to hydrogen peroxide;IEA|GO:0075733;intracellular transport of virus;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KPNA4			https://www.ncbi.nlm.nih.gov/omim/?term=602970	http://www.informatics.jax.org/searchtool/Search.do?query=KPNA4&submit=Quick%0D%15637ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA4	rs1551190	0.446685	0	0	1	0	0	intronic	intronic	intronic	KPNA4	KPNA4	ENSG00000186432	Na	Na	Na	Na	Na	Na	Het;A>G	143;1|5	Hom;A>G	170;0|6
N	N	-	3	160283126	160283126	A	C	snp	UTR5	-56T>G	 	 	 	KPNA4	Kpna4	ENSG00000186432	karyopherin subunit alpha 4	chr3:160212783-160283376	The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]	Blood Coagulation Factors; Cholesterol, HDL	 	 NS1 Mediated Effects on Host Pathways	GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0042542;response to hydrogen peroxide;IEA|GO:0075733;intracellular transport of virus;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KPNA4			https://www.ncbi.nlm.nih.gov/omim/?term=602970	http://www.informatics.jax.org/searchtool/Search.do?query=KPNA4&submit=Quick%0D%15637ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA4	rs4621370	0.446685	0.5456	0	1	0	0	UTR5	UTR5	UTR5	KPNA4(NM_002268:c.-56T>G)	KPNA4(uc003fdn.3:c.-56T>G)	ENSG00000186432(ENST00000334256:c.-56T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	295;15|14	Hom;A>C	429;0|16
N	N	-	3	163743848	163743848	T	C	snp	intergenic	 	 	 	 	AC084017.1																		rs34607874	0.327676	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01192(dist=722759),MIR1263(dist=145411)	CT64(dist=722759),SI(dist=952838)	ENSG00000214210(dist=23595),ENSG00000221251(dist=145411)	Na	Na	Na	Na	Na	Na	Het;T>C	261;2|12	Hom;T>C	170;0|8
N	N	-	3	163889384	163889384	T	C	snp	upstream	 	 	 	 	MIR1263																		rs10936412	0.552716	0.4862	0.4986	1	0	0	upstream	intergenic	upstream	MIR1263	CT64(dist=868295),SI(dist=807302)	ENSG00000221251	Na	Na	Na	Na	Na	Na	Het;T>C	155;12|7	Hom;T>C	707;0|28
N	N	-	3	164448718	164448718	T	G	snp	ncRNA_exonic	 	 	 	 	LINC01324																		rs1845606	0.809904	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01324	CT64(dist=1427629),SI(dist=247968)	ENSG00000241767	Na	Na	Na	Na	Na	Na	Het;T>G	1625;78|75	Hom;T>G	4512;0|167
N	N	-	3	164758630	164758630	G	A	snp	intronic	 	 	 	 	SI	Sis	ENSG00000090402	sucrase-isomaltase	chr3:164696686-164796283	This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]	SUCRASE-ISOMALTASE DEFICIENCY CONGENITAL	This mutation affects the viability of melanoblasts, resulting in random occurrence of white, partially white or gray hairs, and fully pigmented hairs that together display as varying intensities of silvering.	Digestion of dietary carbohydrate	GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0044245;polysaccharide digestion;TAS	GO:0005794;Golgi apparatus;TAS|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;EXP|GO:0004574;oligo-1,6-glucosidase activity;IEA|GO:0004575;sucrose alpha-glucosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SI	https://www.uniprot.org/uniprot/P14410	https://hpo.jax.org/app/browse/search?q=SI&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609845	http://www.informatics.jax.org/searchtool/Search.do?query=SI&submit=Quick%0D%2098ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SI	rs13099130	0.610623	0	0	1	0	0	intronic	intronic	intronic	SI	SI	ENSG00000090402	Na	Na	Na	Na	Na	Na	Het;G>A	311;1|10	Hom;G>A	119;0|4
N	N	-	3	164760771	164760771	T	C	snp	intronic	 	 	 	 	SI	Sis	ENSG00000090402	sucrase-isomaltase	chr3:164696686-164796283	This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]	SUCRASE-ISOMALTASE DEFICIENCY CONGENITAL	This mutation affects the viability of melanoblasts, resulting in random occurrence of white, partially white or gray hairs, and fully pigmented hairs that together display as varying intensities of silvering.	Digestion of dietary carbohydrate	GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0044245;polysaccharide digestion;TAS	GO:0005794;Golgi apparatus;TAS|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;EXP|GO:0004574;oligo-1,6-glucosidase activity;IEA|GO:0004575;sucrose alpha-glucosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SI	https://www.uniprot.org/uniprot/P14410	https://hpo.jax.org/app/browse/search?q=SI&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609845	http://www.informatics.jax.org/searchtool/Search.do?query=SI&submit=Quick%0D%2098ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SI	rs12381230	0.366414	0	0	1	0	0	intronic	intronic	intronic	SI	SI	ENSG00000090402	Na	Na	Na	Na	Na	Na	Het;T>C	341;13|16	Hom;T>C	593;0|20
N	N	-	3	167167100	167167100	C	T	snp	intronic	 	 	 	 	SERPINI2	Serpini2	ENSG00000114204	serpin family I member 2	chr3:167159577-167196792	The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]	esophageal adenocarcinoma	Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death.		GO:0006928;movement of cell or subcellular component;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030155;regulation of cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0070062;extracellular exosome;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINI2	https://www.uniprot.org/uniprot/O75830		https://www.ncbi.nlm.nih.gov/omim/?term=605587	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINI2&submit=Quick%0D%4442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINI2	rs6803996	0.173522	0.2103	0.2306	1	0	0	intronic	intronic	intronic	SERPINI2	SERPINI2	ENSG00000114204	Na	Na	Na	Na	Na	Na	Het;C>T	822;67|45	Hom;C>T	2174;0|81
N	N	-	3	167167186	167167186	T	A	snp	synonymous SNV	A969T	S323S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SERPINI2	Serpini2	ENSG00000114204	serpin family I member 2	chr3:167159577-167196792	The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]	esophageal adenocarcinoma	Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death.		GO:0006928;movement of cell or subcellular component;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030155;regulation of cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0070062;extracellular exosome;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINI2	https://www.uniprot.org/uniprot/O75830		https://www.ncbi.nlm.nih.gov/omim/?term=605587	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINI2&submit=Quick%0D%4442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINI2	rs6770577	0.370807	0.3633	0.3955	1	0	0	exonic	exonic	exonic	SERPINI2	SERPINI2	ENSG00000114204	synonymous SNV	synonymous SNV	unknown	SERPINI2:NM_006217:exon7:c.A969T:p.S323S,SERPINI2:NM_001012303:exon8:c.A999T:p.S333S,	SERPINI2:uc003fer.2:exon6:c.A969T:p.S323S,SERPINI2:uc003fes.2:exon8:c.A999T:p.S333S,SERPINI2:uc003fet.2:exon7:c.A969T:p.S323S,	UNKNOWN	Het;T>A	798;67|42	Hom;T>A	2132;0|75
N	N	-	3	167189607	167189607	A	C	snp	nonsynonymous SNV	T16G	L6V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SERPINI2	Serpini2	ENSG00000114204	serpin family I member 2	chr3:167159577-167196792	The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]	esophageal adenocarcinoma	Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death.		GO:0006928;movement of cell or subcellular component;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030155;regulation of cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0070062;extracellular exosome;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINI2	https://www.uniprot.org/uniprot/O75830		https://www.ncbi.nlm.nih.gov/omim/?term=605587	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINI2&submit=Quick%0D%4442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINI2	rs17246389	0.167732	0.2008	0.2265	0.23	3	13	exonic	exonic	exonic	SERPINI2	SERPINI2	ENSG00000114204	nonsynonymous SNV	nonsynonymous SNV	unknown	SERPINI2:NM_006217:exon2:c.T16G:p.L6V,SERPINI2:NM_001012303:exon3:c.T46G:p.L16V,	SERPINI2:uc003fer.2:exon1:c.T16G:p.L6V,SERPINI2:uc003fes.2:exon3:c.T46G:p.L16V,SERPINI2:uc003fet.2:exon2:c.T16G:p.L6V,	UNKNOWN	Het;A>C	693;20|32	Hom;A>C	1921;1|72
N	N	-	3	167912878	167912878	C	T	snp	intergenic	 	 	 	 	GOLIM4	Golim4	ENSG00000173905	golgi integral membrane protein 4	chr3:167726465-167813763	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]	Body Height; height	 	Intra-Golgi traffic	GO:0006810;transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0005801;cis-Golgi network;TAS|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS|GO:0030133;transport vesicle;TAS|GO:0030139;endocytic vesicle;TAS|GO:0032580;Golgi cisterna membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GOLIM4			https://www.ncbi.nlm.nih.gov/omim/?term=606805	http://www.informatics.jax.org/searchtool/Search.do?query=GOLIM4&submit=Quick%0D%13443ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLIM4	rs58329023	0.288538	0	0	1	0	0	intergenic	intergenic	intergenic	GOLIM4(dist=99461),EGFEM1P(dist=54432)	GOLIM4(dist=99461),NONE(dist=NONE)	ENSG00000173905(dist=99115),ENSG00000266363(dist=8419)	Na	Na	Na	Na	Na	Na	Het;C>T	127;4|5	Hom;C>T	154;0|5
N	N	-	3	16794049	16794053	TCTTG	T	indel	intergenic	 	 	 	 	AC091493.1																		rs56279523	0	0	0	1	0	0	intergenic	intergenic	intergenic	DAZL(dist=147043),PLCL2(dist=132399)	DAZL(dist=147043),PLCL2(dist=50106)	ENSG00000229271(dist=55063),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;-CTTG	41;2|2	Hom;-CTTG	143;0|4
N	N	-	3	16794206	16794206	C	T	snp	intergenic	 	 	 	 	AC091493.1																		rs6442632	0.371605	0	0	1	0	0	intergenic	intergenic	intergenic	DAZL(dist=147200),PLCL2(dist=132246)	DAZL(dist=147200),PLCL2(dist=49953)	ENSG00000229271(dist=55220),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	952;65|49	Hom;C>T	2732;0|104
N	N	-	3	16794282	16794286	CTGTT	C	indel	intergenic	 	 	 	 	AC091493.1																		rs10589189	0.377596	0	0	1	0	0	intergenic	intergenic	intergenic	DAZL(dist=147276),PLCL2(dist=132166)	DAZL(dist=147276),PLCL2(dist=49873)	ENSG00000229271(dist=55296),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;-TGTT	1193;57|34	Hom;-TGTT	4684;0|109
N	N	-	3	170668426	170668426	T	TTG	indel	intergenic	 	 	 	 	EIF5A2	Eif5a2	ENSG00000163577	eukaryotic translation initiation factor 5A2	chr3:170606204-170626482		infertility, male	Mice homozygous for a knockout allele exhibit no abnormal phenotype.	Hypusine synthesis from eIF5A-lysine	GO:0006412;translation;IEA|GO:0006414;translational elongation;IEA|GO:0006452;translational frameshifting;IEA|GO:0006810;transport;IEA|GO:0007283;spermatogenesis;NAS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008612;peptidyl-lysine modification to peptidyl-hypusine;TAS|GO:0010509;polyamine homeostasis;NAS|GO:0015031;protein transport;IEA|GO:0045901;positive regulation of translational elongation;IEA|GO:0045905;positive regulation of translational termination;IEA|GO:0051028;mRNA transport;IEA	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003723;RNA binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF5A2			https://www.ncbi.nlm.nih.gov/omim/?term=605782	http://www.informatics.jax.org/searchtool/Search.do?query=EIF5A2&submit=Quick%0D%11014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF5A2	rs147970287	0.723043	0	0	1	0	0	intergenic	intergenic	intergenic	EIF5A2(dist=42000),SLC2A2(dist=45711)	EIF5A2(dist=42000),U1(dist=44233)	ENSG00000163577(dist=41944),ENSG00000240704(dist=2213)	Na	Na	Na	Na	Na	Na	Het;+TG	135;3|7	Hom;+TG	331;1|12
N	N	-	3	170671557	170671557	T	G	snp	ncRNA_exonic	 	 	 	 	KLF7P1																		rs10049130	0.229433	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	EIF5A2(dist=45131),SLC2A2(dist=42580)	EIF5A2(dist=45131),U1(dist=41102)	ENSG00000240704	Na	Na	Na	Na	Na	Na	Het;T>G	68;9|5	Hom;T>G	333;0|12
N	N	-	3	171132728	171132728	C	T	snp	intronic	 	 	 	 	TNIK	Tnik	ENSG00000154310	TRAF2 and NCK interacting kinase	chr3:170779128-171178197	Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM, Mar 2008]	Brain imaging in schizophrenia (interaction); Cell Adhesion Molecules; schizophrenia; Hemoglobins; Tobacco Use Disorder; Schizophrenia; Cholesterol, HDL; Coronary Disease	Mice homozygous for a knock-out allele exhibit impaired postsynaptic signaling and cognitive function.	Oxidative Stress Induced Senescence	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006468;protein phosphorylation;IDA|GO:0007010;cytoskeleton organization;IMP|GO:0007256;activation of JNKK activity;IDA|GO:0007399;nervous system development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0030033;microvillus assembly;IMP|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048814;regulation of dendrite morphogenesis;IDA|GO:0072659;protein localization to plasma membrane;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IDA|GO:0016324;apical plasma membrane;IDA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNIK	https://www.uniprot.org/uniprot/Q9UKE5	https://hpo.jax.org/app/browse/search?q=TNIK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610005	http://www.informatics.jax.org/searchtool/Search.do?query=TNIK&submit=Quick%0D%9758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNIK	rs9862307	0.71266	0	0	1	0	0	intronic	intronic	intronic	TNIK	TNIK	ENSG00000154310	Na	Na	Na	Na	Na	Na	Het;C>T	364;20|18	Hom;C>T	709;0|27
N	N	-	3	171898074	171898074	A	G	snp	intronic	 	 	 	 	FNDC3B	Fndc3b	ENSG00000075420	fibronectin type III domain containing 3B	chr3:171757418-172119455		Tobacco Use Disorder; Leukocyte Count; Tunica Media; Coronary Artery Disease	Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FNDC3B	https://www.uniprot.org/uniprot/Q53EP0		https://www.ncbi.nlm.nih.gov/omim/?term=611909	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC3B&submit=Quick%0D%1548ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC3B	rs9290446	0.536941	0	0	1	0	0	intronic	intronic	intronic	FNDC3B	FNDC3B	ENSG00000075420	Na	Na	Na	Na	Na	Na	Het;A>G	472;13|22	Hom;A>G	1004;0|36
N	N	-	3	17202334	17202334	A	C	snp	UTR3	*121T>G	 	 	 	TBC1D5	Tbc1d5	ENSG00000131374	TBC1 domain family member 5	chr3:17198654-18486309		Walking; Heart Failure; Tobacco Use Disorder	 		GO:0002092;positive regulation of receptor internalization;IMP|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;IMP|GO:0031338;regulation of vesicle fusion;IBA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0042594;response to starvation;IDA|GO:0090630;activation of GTPase activity;IBA	GO:0005768;endosome;IEA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030904;retromer complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990316;ATG1/ULK1 kinase complex;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:1905394;retromer complex binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D5	https://www.uniprot.org/uniprot/Q92609		https://www.ncbi.nlm.nih.gov/omim/?term=615740	http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D5&submit=Quick%0D%6529ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D5	rs13078644	0.855431	0	0	1	0	0	UTR3	UTR3	UTR3	TBC1D5(NM_014744:c.*121T>G,NM_001134381:c.*121T>G)	TBC1D5(uc010heu.3:c.*121T>G,uc010hev.3:c.*121T>G,uc003cbf.3:c.*121T>G,uc003cbe.3:c.*121T>G)	ENSG00000131374(ENST00000253692:c.*121T>G,ENST00000429383:c.*121T>G,ENST00000446818:c.*121T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	152;1|5	Hom;A>C	126;0|4
N	N	-	3	172059121	172059121	G	A	snp	intronic	 	 	 	 	FNDC3B	Fndc3b	ENSG00000075420	fibronectin type III domain containing 3B	chr3:171757418-172119455		Tobacco Use Disorder; Leukocyte Count; Tunica Media; Coronary Artery Disease	Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FNDC3B	https://www.uniprot.org/uniprot/Q53EP0		https://www.ncbi.nlm.nih.gov/omim/?term=611909	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC3B&submit=Quick%0D%1548ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC3B	rs570549	0.642372	0	0	1	0	0	intronic	intronic	intronic	FNDC3B	FNDC3B	ENSG00000075420	Na	Na	Na	Na	Na	Na	Het;G>A	384;11|15	Hom;G>A	1191;0|37
N	N	-	3	172143767	172143767	G	T	snp	ncRNA_exonic	 	 	 	 	BZW1P1																		rs561131	0.529353	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FNDC3B(dist=25275),GHSR(dist=17314)	FNDC3B(dist=25275),GHSR(dist=17314)	ENSG00000236686	Na	Na	Na	Na	Na	Na	Het;G>T	55;6|3	Hom;G>T	355;0|11
N	N	-	3	172144394	172144394	C	T	snp	ncRNA_exonic	 	 	 	 	BZW1P1																		rs490499	0.521765	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FNDC3B(dist=25902),GHSR(dist=16687)	FNDC3B(dist=25902),GHSR(dist=16687)	ENSG00000236686	Na	Na	Na	Na	Na	Na	Het;C>T	64;5|3	Hom;C>T	334;0|11
N	N	-	3	172144718	172144718	A	G	snp	ncRNA_exonic	 	 	 	 	BZW1P1																		rs493280	0.522764	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FNDC3B(dist=26226),GHSR(dist=16363)	FNDC3B(dist=26226),GHSR(dist=16363)	ENSG00000236686	Na	Na	Na	Na	Na	Na	Het;A>G	644;17|26	Hom;A>G	1645;0|53
N	N	-	3	172162117	172162117	G	T	snp	UTR3	*834C>A	 	 	 	GHSR	Ghsr	ENSG00000121853	growth hormone secretagogue receptor	chr3:172162923-172166246	This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]	obesity; atherosclerosis, coronary myocardial infarct; Bulimia; Obesity; null; Body Height; ghrelin receptor; diabetes, type 2; Alcoholism; Bone Mineral Density; Osteoporosis; colorectal cancer; adiposity; Autism; breast cancer; Body Weight|Obesity; Type 2 Diabetes| edema | rosiglitazone; anorexia nervosa; bulimia; Churg-Strauss Syndrome|Wegener Granulomatosis; metabolic syndrome; breast cancer ; Arthritis, Rheumatoid|Rheumatoid Arthritis; left ventricular hypertrophy; short normal stature.; esophageal adenocarcinoma	Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation.	G alpha (q) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008154;actin polymerization or depolymerization;IDA|GO:0008343;adult feeding behavior;IEA|GO:0009725;response to hormone;IDA|GO:0009755;hormone-mediated signaling pathway;IDA|GO:0030252;growth hormone secretion;TAS|GO:0032094;response to food;IEA|GO:0032100;positive regulation of appetite;IEA|GO:0032691;negative regulation of interleukin-1 beta production;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0040018;positive regulation of multicellular organism growth;IMP|GO:0042536;negative regulation of tumor necrosis factor biosynthetic process;IDA|GO:0043134;regulation of hindgut contraction;IEA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0045409;negative regulation of interleukin-6 biosynthetic process;IDA|GO:0045923;positive regulation of fatty acid metabolic process;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0046697;decidualization;IDA|GO:0050728;negative regulation of inflammatory response;IDA|GO:0051963;regulation of synapse assembly;IEA	GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0045121;membrane raft;IDA	GO:0001616;growth hormone secretagogue receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA|GO:0016520;growth hormone-releasing hormone receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0042562;hormone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GHSR	https://www.uniprot.org/uniprot/Q92847	https://hpo.jax.org/app/browse/search?q=GHSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601898	http://www.informatics.jax.org/searchtool/Search.do?query=GHSR&submit=Quick%0D%5351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GHSR	rs565105	0.588658	0	0	1	0	0	UTR3	UTR3	downstream	GHSR(NM_198407:c.*834C>A)	GHSR(uc003fib.2:c.*834C>A)	ENSG00000121853	Na	Na	Na	Na	Na	Na	Het;G>T	1042;30|51	Hom;G>T	1907;0|73
N	N	-	3	172162829	172162829	G	A	snp	UTR3	*122C>T	 	 	 	GHSR	Ghsr	ENSG00000121853	growth hormone secretagogue receptor	chr3:172162923-172166246	This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]	obesity; atherosclerosis, coronary myocardial infarct; Bulimia; Obesity; null; Body Height; ghrelin receptor; diabetes, type 2; Alcoholism; Bone Mineral Density; Osteoporosis; colorectal cancer; adiposity; Autism; breast cancer; Body Weight|Obesity; Type 2 Diabetes| edema | rosiglitazone; anorexia nervosa; bulimia; Churg-Strauss Syndrome|Wegener Granulomatosis; metabolic syndrome; breast cancer ; Arthritis, Rheumatoid|Rheumatoid Arthritis; left ventricular hypertrophy; short normal stature.; esophageal adenocarcinoma	Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation.	G alpha (q) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008154;actin polymerization or depolymerization;IDA|GO:0008343;adult feeding behavior;IEA|GO:0009725;response to hormone;IDA|GO:0009755;hormone-mediated signaling pathway;IDA|GO:0030252;growth hormone secretion;TAS|GO:0032094;response to food;IEA|GO:0032100;positive regulation of appetite;IEA|GO:0032691;negative regulation of interleukin-1 beta production;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0040018;positive regulation of multicellular organism growth;IMP|GO:0042536;negative regulation of tumor necrosis factor biosynthetic process;IDA|GO:0043134;regulation of hindgut contraction;IEA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0045409;negative regulation of interleukin-6 biosynthetic process;IDA|GO:0045923;positive regulation of fatty acid metabolic process;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0046697;decidualization;IDA|GO:0050728;negative regulation of inflammatory response;IDA|GO:0051963;regulation of synapse assembly;IEA	GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0045121;membrane raft;IDA	GO:0001616;growth hormone secretagogue receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA|GO:0016520;growth hormone-releasing hormone receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0042562;hormone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GHSR	https://www.uniprot.org/uniprot/Q92847	https://hpo.jax.org/app/browse/search?q=GHSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601898	http://www.informatics.jax.org/searchtool/Search.do?query=GHSR&submit=Quick%0D%5351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GHSR	rs482204	0.588858	0	0	1	0	0	UTR3	UTR3	downstream	GHSR(NM_198407:c.*122C>T)	GHSR(uc003fib.2:c.*122C>T)	ENSG00000121853	Na	Na	Na	Na	Na	Na	Het;G>A	627;30|30	Hom;G>A	1865;0|43
N	N	-	3	172165177	172165179	GGA	G	indel	intronic	 	 	 	 	GHSR	Ghsr	ENSG00000121853	growth hormone secretagogue receptor	chr3:172162923-172166246	This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]	obesity; atherosclerosis, coronary myocardial infarct; Bulimia; Obesity; null; Body Height; ghrelin receptor; diabetes, type 2; Alcoholism; Bone Mineral Density; Osteoporosis; colorectal cancer; adiposity; Autism; breast cancer; Body Weight|Obesity; Type 2 Diabetes| edema | rosiglitazone; anorexia nervosa; bulimia; Churg-Strauss Syndrome|Wegener Granulomatosis; metabolic syndrome; breast cancer ; Arthritis, Rheumatoid|Rheumatoid Arthritis; left ventricular hypertrophy; short normal stature.; esophageal adenocarcinoma	Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation.	G alpha (q) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008154;actin polymerization or depolymerization;IDA|GO:0008343;adult feeding behavior;IEA|GO:0009725;response to hormone;IDA|GO:0009755;hormone-mediated signaling pathway;IDA|GO:0030252;growth hormone secretion;TAS|GO:0032094;response to food;IEA|GO:0032100;positive regulation of appetite;IEA|GO:0032691;negative regulation of interleukin-1 beta production;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0040018;positive regulation of multicellular organism growth;IMP|GO:0042536;negative regulation of tumor necrosis factor biosynthetic process;IDA|GO:0043134;regulation of hindgut contraction;IEA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0045409;negative regulation of interleukin-6 biosynthetic process;IDA|GO:0045923;positive regulation of fatty acid metabolic process;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0046697;decidualization;IDA|GO:0050728;negative regulation of inflammatory response;IDA|GO:0051963;regulation of synapse assembly;IEA	GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0045121;membrane raft;IDA	GO:0001616;growth hormone secretagogue receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA|GO:0016520;growth hormone-releasing hormone receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0042562;hormone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GHSR	https://www.uniprot.org/uniprot/Q92847	https://hpo.jax.org/app/browse/search?q=GHSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601898	http://www.informatics.jax.org/searchtool/Search.do?query=GHSR&submit=Quick%0D%5351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GHSR	rs10618418	0.586861	0	0	1	0	0	intronic	intronic	intronic	GHSR	GHSR	ENSG00000121853	Na	Na	Na	Na	Na	Na	Het;-GA	66;2|3	Hom;-GA	297;0|9
N	N	-	3	172166033	172166033	G	A	snp	synonymous SNV	C171T	G57G	aliphatic,neutral	aliphatic,neutral	GHSR	Ghsr	ENSG00000121853	growth hormone secretagogue receptor	chr3:172162923-172166246	This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]	obesity; atherosclerosis, coronary myocardial infarct; Bulimia; Obesity; null; Body Height; ghrelin receptor; diabetes, type 2; Alcoholism; Bone Mineral Density; Osteoporosis; colorectal cancer; adiposity; Autism; breast cancer; Body Weight|Obesity; Type 2 Diabetes| edema | rosiglitazone; anorexia nervosa; bulimia; Churg-Strauss Syndrome|Wegener Granulomatosis; metabolic syndrome; breast cancer ; Arthritis, Rheumatoid|Rheumatoid Arthritis; left ventricular hypertrophy; short normal stature.; esophageal adenocarcinoma	Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation.	G alpha (q) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008154;actin polymerization or depolymerization;IDA|GO:0008343;adult feeding behavior;IEA|GO:0009725;response to hormone;IDA|GO:0009755;hormone-mediated signaling pathway;IDA|GO:0030252;growth hormone secretion;TAS|GO:0032094;response to food;IEA|GO:0032100;positive regulation of appetite;IEA|GO:0032691;negative regulation of interleukin-1 beta production;IDA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0040018;positive regulation of multicellular organism growth;IMP|GO:0042536;negative regulation of tumor necrosis factor biosynthetic process;IDA|GO:0043134;regulation of hindgut contraction;IEA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0045409;negative regulation of interleukin-6 biosynthetic process;IDA|GO:0045923;positive regulation of fatty acid metabolic process;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0046697;decidualization;IDA|GO:0050728;negative regulation of inflammatory response;IDA|GO:0051963;regulation of synapse assembly;IEA	GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0045121;membrane raft;IDA	GO:0001616;growth hormone secretagogue receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA|GO:0016520;growth hormone-releasing hormone receptor activity;IDA|GO:0017046;peptide hormone binding;IEA|GO:0042562;hormone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GHSR	https://www.uniprot.org/uniprot/Q92847	https://hpo.jax.org/app/browse/search?q=GHSR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601898	http://www.informatics.jax.org/searchtool/Search.do?query=GHSR&submit=Quick%0D%5351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GHSR	rs495225	0.540136	0.6369	0.6555	1	0	0	exonic	exonic	exonic	GHSR	GHSR	ENSG00000121853	synonymous SNV	synonymous SNV	unknown	GHSR:NM_198407:exon1:c.C171T:p.G57G,GHSR:NM_004122:exon1:c.C171T:p.G57G,	GHSR:uc011bpv.2:exon1:c.C171T:p.G57G,GHSR:uc003fib.2:exon1:c.C171T:p.G57G,	UNKNOWN	Het;G>A	1362;65|65	Hom;G>A	3795;2|142
N	N	-	3	172321768	172321768	C	T	snp	ncRNA_exonic	 	 	 	 	SLC31A1P1																		rs17524400	0.140176	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TNFSF10(dist=80471),NCEH1(dist=26667)	AK127557(dist=9395),NCEH1(dist=26667)	ENSG00000224426	Na	Na	Na	Na	Na	Na	Het;C>T	360;30|19	Hom;C>T	1851;0|70
N	N	-	3	172548624	172548624	T	C	snp	downstream	 	 	 	 	AC108667.1																		rs13059173	0.455471	0	0	1	0	0	intergenic	intergenic	downstream	ECT2(dist=9360),SPATA16(dist=58523)	ECT2(dist=9360),SPATA16(dist=58523)	ENSG00000237501	Na	Na	Na	Na	Na	Na	Het;T>C	47;4|4	Hom;T>C	337;0|13
N	N	-	3	173525731	173525731	G	T	snp	intronic	 	 	 	 	NLGN1	Nlgn1	ENSG00000169760	neuroligin 1	chr3:173114074-174004434	This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]	Psychiatric Disorders; Amyotrophic Lateral Sclerosis|; Alcoholism; Autism; depression; Depressive Disorder, Major; Body Height; Narcolepsy; Tobacco Use Disorder; Myocardial Infarction; schizophrenia | autism; several psychiatric disorders	Mice homozygous for a knock-out allele are viable and fertile but display impaired NMDA receptor-mediated synaptic transmission onto CA1 pyramidal cells.	Neurexins and neuroligins	GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006605;protein targeting;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;IEA|GO:0010841;positive regulation of circadian sleep/wake cycle, wakefulness;IEA|GO:0016080;synaptic vesicle targeting;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0023041;neuronal signal transduction;TAS|GO:0031175;neuron projection development;IDA|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0035418;protein localization to synapse;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0048489;synaptic vesicle transport;IEA|GO:0048511;rhythmic process;IEA|GO:0048789;cytoskeletal matrix organization at active zone;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0051965;positive regulation of synapse assembly;IDA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0061002;negative regulation of dendritic spine morphogenesis;IGI|GO:0072553;terminal button organization;IEA|GO:0097091;synaptic vesicle clustering;IEA|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:0097113;AMPA glutamate receptor clustering;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097115;neurexin clustering involved in presynaptic membrane assembly;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0098942;retrograde trans-synaptic signaling by trans-synaptic protein complex;IEA|GO:1900029;positive regulation of ruffle assembly;IEA|GO:1900244;positive regulation of synaptic vesicle endocytosis;IEA|GO:1902474;positive regulation of protein localization to synapse;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:1904861;excitatory synapse assembly;IEA|GO:1905520;positive regulation of presynaptic active zone assembly;IEA|GO:2000302;positive regulation of synaptic vesicle exocytosis;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000809;positive regulation of synaptic vesicle clustering;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032433;filopodium tip;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;IEA|GO:0098793;presynapse;IEA|GO:0099055;integral component of postsynaptic membrane;TAS	GO:0004872;receptor activity;IEA|GO:0030165;PDZ domain binding;IDA|GO:0042043;neurexin family protein binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0050839;cell adhesion molecule binding;IEA|GO:0052689;carboxylic ester hydrolase activity;IBA|GO:0097110;scaffold protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NLGN1			https://www.ncbi.nlm.nih.gov/omim/?term=600568	http://www.informatics.jax.org/searchtool/Search.do?query=NLGN1&submit=Quick%0D%12562ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLGN1	rs1488548	0.713259	0	0	1	0	0	intronic	intronic	intronic	NLGN1	NLGN1	ENSG00000169760	Na	Na	Na	Na	Na	Na	Het;G>T	299;4|12	Hom;G>T	1525;0|50
N	N	-	3	173525768	173525768	A	G	snp	intronic	 	 	 	 	NLGN1	Nlgn1	ENSG00000169760	neuroligin 1	chr3:173114074-174004434	This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]	Psychiatric Disorders; Amyotrophic Lateral Sclerosis|; Alcoholism; Autism; depression; Depressive Disorder, Major; Body Height; Narcolepsy; Tobacco Use Disorder; Myocardial Infarction; schizophrenia | autism; several psychiatric disorders	Mice homozygous for a knock-out allele are viable and fertile but display impaired NMDA receptor-mediated synaptic transmission onto CA1 pyramidal cells.	Neurexins and neuroligins	GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006605;protein targeting;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;IEA|GO:0010841;positive regulation of circadian sleep/wake cycle, wakefulness;IEA|GO:0016080;synaptic vesicle targeting;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0023041;neuronal signal transduction;TAS|GO:0031175;neuron projection development;IDA|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0035418;protein localization to synapse;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0048489;synaptic vesicle transport;IEA|GO:0048511;rhythmic process;IEA|GO:0048789;cytoskeletal matrix organization at active zone;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0051965;positive regulation of synapse assembly;IDA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0061002;negative regulation of dendritic spine morphogenesis;IGI|GO:0072553;terminal button organization;IEA|GO:0097091;synaptic vesicle clustering;IEA|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:0097113;AMPA glutamate receptor clustering;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097115;neurexin clustering involved in presynaptic membrane assembly;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0098942;retrograde trans-synaptic signaling by trans-synaptic protein complex;IEA|GO:1900029;positive regulation of ruffle assembly;IEA|GO:1900244;positive regulation of synaptic vesicle endocytosis;IEA|GO:1902474;positive regulation of protein localization to synapse;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:1904861;excitatory synapse assembly;IEA|GO:1905520;positive regulation of presynaptic active zone assembly;IEA|GO:2000302;positive regulation of synaptic vesicle exocytosis;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000809;positive regulation of synaptic vesicle clustering;IEA	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032433;filopodium tip;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;IEA|GO:0098793;presynapse;IEA|GO:0099055;integral component of postsynaptic membrane;TAS	GO:0004872;receptor activity;IEA|GO:0030165;PDZ domain binding;IDA|GO:0042043;neurexin family protein binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0050839;cell adhesion molecule binding;IEA|GO:0052689;carboxylic ester hydrolase activity;IBA|GO:0097110;scaffold protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NLGN1			https://www.ncbi.nlm.nih.gov/omim/?term=600568	http://www.informatics.jax.org/searchtool/Search.do?query=NLGN1&submit=Quick%0D%12562ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLGN1	rs1488547	0.530551	0	0	1	0	0	intronic	intronic	intronic	NLGN1	NLGN1	ENSG00000169760	Na	Na	Na	Na	Na	Na	Het;A>G	200;2|6	Hom;A>G	776;0|22
N	N	-	3	174883051	174883051	G	A	snp	intronic	 	 	 	 	NAALADL2	Naaladl2	ENSG00000177694	N-acetylated alpha-linked acidic dipeptidase like 2	chr3:174156363-175523428		Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2			https://www.ncbi.nlm.nih.gov/omim/?term=608806	http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2	rs1461262	0.84365	0	0	1	0	0	intronic	intronic	intronic	NAALADL2	NAALADL2	ENSG00000177694	Na	Na	Na	Na	Na	Na	Het;G>A	1036;68|55	Hom;G>A	2844;2|111
N	N	-	3	174951756	174951756	T	C	snp	nonsynonymous SNV	T581C	M194T	hydrophobic,neutral	polar,hydrophilic,neutral	NAALADL2	Naaladl2	ENSG00000177694	N-acetylated alpha-linked acidic dipeptidase like 2	chr3:174156363-175523428		Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2			https://www.ncbi.nlm.nih.gov/omim/?term=608806	http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2	rs4371530	0.638778	0.7005	0.6928	0.15	2	13	exonic	exonic	exonic	NAALADL2	NAALADL2	ENSG00000177694	nonsynonymous SNV	nonsynonymous SNV	unknown	NAALADL2:NM_207015:exon3:c.T581C:p.M194T,	NAALADL2:uc003fiu.1:exon3:c.T560C:p.M187T,NAALADL2:uc010hwy.2:exon3:c.T2C:p.M1T,NAALADL2:uc003fit.3:exon3:c.T581C:p.M194T,	UNKNOWN	Het;T>C	799;32|37	Hom;T>C	2153;0|73
N	N	-	3	174952839	174952839	A	T	snp	ncRNA_exonic	 	 	 	 	NAALADL2-AS2																		rs10804855	0.652756	0	0	1	0	0	intronic	intronic	ncRNA_exonic	NAALADL2	NAALADL2	ENSG00000226779	Na	Na	Na	Na	Na	Na	Het;A>T	66;12|6	Hom;A>T	646;0|22
N	N	-	3	174953393	174953393	T	C	snp	ncRNA_exonic	 	 	 	 	NAALADL2-AS2																		rs6795495	0.647364	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	NAALADL2-AS2	NAALADL2	ENSG00000226779	Na	Na	Na	Na	Na	Na	Het;T>C	1679;95|75	Hom;T>C	5438;0|186
N	N	-	3	174974177	174974177	C	G	snp	ncRNA_intronic	 	 	 	 	NAALADL2-AS2																		rs13072102	0.247404	0.2593	0.3233	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	NAALADL2-AS2	NAALADL2	ENSG00000226779	Na	Na	Na	Na	Na	Na	Het;C>G	317;30|20	Hom;C>G	1593;0|57
N	N	-	3	175436043	175436043	A	G	snp	ncRNA_exonic	 	 	 	 	UBE2V1P2																		rs4086913	0.316494	0	0	1	0	0	intronic	intronic	ncRNA_exonic	NAALADL2	NAALADL2	ENSG00000214192	Na	Na	Na	Na	Na	Na	Het;A>G	298;26|17	Hom;A>G	886;0|32
N	N	-	3	175473047	175473047	T	C	snp	nonsynonymous SNV	T2030C	L677S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	NAALADL2	Naaladl2	ENSG00000177694	N-acetylated alpha-linked acidic dipeptidase like 2	chr3:174156363-175523428		Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2			https://www.ncbi.nlm.nih.gov/omim/?term=608806	http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2	rs9826737	0.980232	0.9533	0.9536	0.15	2	13	exonic	exonic	exonic	NAALADL2	NAALADL2	ENSG00000177694	nonsynonymous SNV	nonsynonymous SNV	unknown	NAALADL2:NM_207015:exon13:c.T2030C:p.L677S,	NAALADL2:uc003fit.3:exon13:c.T2030C:p.L677S,	UNKNOWN	Het;T>C	844;30|39	Hom;T>C	1467;0|54
N	N	-	3	176403499	176403499	A	G	snp	ncRNA_intronic	 	 	 	 	AC092920.1																		rs2130464	0.786342	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01208(dist=50179),LINC01209(dist=128445)	NAALADL2(dist=880071),TBL1XR1(dist=335043)	ENSG00000232461	Na	Na	Na	Na	Na	Na	Het;A>G	347;10|11	Hom;A>G	640;0|17
N	N	-	3	176882824	176882824	G	A	snp	intronic	 	 	 	 	TBL1XR1	Tbl1xr1	ENSG00000177565	transducin beta like 1 X-linked receptor 1	chr3:176737143-176915261	This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]	Tobacco Use Disorder	Mice homozygous for a conditional allele activated in adipose tissue exhibit increased body weight, and total body fat and increased susceptibility to diet-induced obesity and impaired glucose homeostasis.	RUNX3 regulates YAP1-mediated transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002021;response to dietary excess;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IBA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030814;regulation of cAMP metabolic process;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050872;white fat cell differentiation;IEA|GO:0060070;canonical Wnt signaling pathway;IMP|GO:0060612;adipose tissue development;IEA|GO:0060613;fat pad development;IEA|GO:0090207;regulation of triglyceride metabolic process;IEA	GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005876;spindle microtubule;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0042393;histone binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBL1XR1		https://hpo.jax.org/app/browse/search?q=TBL1XR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608628	http://www.informatics.jax.org/searchtool/Search.do?query=TBL1XR1&submit=Quick%0D%14048ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBL1XR1	rs12496898	0.404553	0	0	1	0	0	intronic	intronic	intronic	TBL1XR1	TBL1XR1	ENSG00000177565	Na	Na	Na	Na	Na	Na	Het;G>A	1468;42|67	Hom;G>A	2803;0|110
N	N	-	3	177418132	177418132	G	A	snp	ncRNA_intronic	 	 	 	 	LINC00578																		rs36055300	0.16254	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LINC00578	LINC00578	ENSG00000228221	Na	Na	Na	Na	Na	Na	Het;G>A	83;2|5	Hom;G>A	155;0|8
N	N	-	3	177614277	177614277	T	C	snp	ncRNA_intronic	 	 	 	 	AK056252																		rs1642575	0.989617	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC102724550	AK056252	ENSG00000231574	Na	Na	Na	Na	Na	Na	Het;T>C	150;4|6	Hom;T>C	93;0|3
N	N	-	3	180372455	180372455	T	C	snp	intronic	 	 	 	 	CCDC39	Ccdc39	ENSG00000145075	coiled-coil domain containing 39	chr3:180320646-180588793	The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]	Tobacco Use Disorder	ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus.		GO:0001947;heart looping;IMP|GO:0003341;cilium movement;IMP|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0030324;lung development;IMP|GO:0035469;determination of pancreatic left/right asymmetry;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060285;cilium-dependent cell motility;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0070286;axonemal dynein complex assembly;IMP|GO:0071907;determination of digestive tract left/right asymmetry;IMP|GO:0071910;determination of liver left/right asymmetry;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC39	https://www.uniprot.org/uniprot/Q9UFE4	https://hpo.jax.org/app/browse/search?q=CCDC39&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613798	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC39&submit=Quick%0D%8695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC39	rs1401334	0.34365	0	0	1	0	0	intronic	intronic	intronic	CCDC39	CCDC39	ENSG00000145075	Na	Na	Na	Na	Na	Na	Het;T>C	445;25|21	Hom;T>C	1443;1|48
N	N	-	3	180396974	180396974	G	A	snp	intronic	 	 	 	 	CCDC39	Ccdc39	ENSG00000145075	coiled-coil domain containing 39	chr3:180320646-180588793	The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]	Tobacco Use Disorder	ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus.		GO:0001947;heart looping;IMP|GO:0003341;cilium movement;IMP|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0030324;lung development;IMP|GO:0035469;determination of pancreatic left/right asymmetry;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060285;cilium-dependent cell motility;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0070286;axonemal dynein complex assembly;IMP|GO:0071907;determination of digestive tract left/right asymmetry;IMP|GO:0071910;determination of liver left/right asymmetry;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC39	https://www.uniprot.org/uniprot/Q9UFE4	https://hpo.jax.org/app/browse/search?q=CCDC39&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613798	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC39&submit=Quick%0D%8695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC39	rs2292896	0.259385	0	0	1	0	0	intronic	intronic	intronic	CCDC39	CCDC39	ENSG00000145075	Na	Na	Na	Na	Na	Na	Het;G>A	98;3|4	Hom;G>A	188;0|6
N	N	-	3	180425676	180425676	T	A	snp	ncRNA_exonic	 	 	 	 	LOC101928882																		rs34130503	0.275759	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	LOC101928882	DKFZp434A128	ENSG00000145075	Na	Na	Na	Na	Na	Na	Het;T>A	1053;57|47	Hom;T>A	2349;0|76
N	N	-	3	182324992	182324992	A	G	snp	intergenic	 	 	 	 	LINC01995																		rs7643238	0.514177	0	0	1	0	0	intergenic	intergenic	intergenic	FLJ46066(dist=120842),ATP11B(dist=186299)	FLJ46066(dist=120842),ATP11B(dist=186299)	ENSG00000244247(dist=100080),ENSG00000228766(dist=3470)	Na	Na	Na	Na	Na	Na	Het;A>G	304;13|15	Hom;A>G	480;0|18
N	N	-	3	182546017	182546017	C	A	snp	intronic	 	 	 	 	ATP11B	Atp11b	ENSG00000058063	ATPase phospholipid transporting 11B (putative)	chr3:182511288-182639423	P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]		 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005637;nuclear inner membrane;NAS|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015075;ion transmembrane transporter activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP11B	https://www.uniprot.org/uniprot/Q9Y2G3		https://www.ncbi.nlm.nih.gov/omim/?term=605869	http://www.informatics.jax.org/searchtool/Search.do?query=ATP11B&submit=Quick%0D%1028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP11B	rs9814205	0.64357	0.7414	0.7163	1	0	0	intronic	intronic	intronic	ATP11B	ATP11B	ENSG00000058063	Na	Na	Na	Na	Na	Na	Het;C>A	77;5|5	Hom;C>A	534;0|21
N	N	-	3	182575631	182575631	G	T	snp	intronic	 	 	 	 	ATP11B	Atp11b	ENSG00000058063	ATPase phospholipid transporting 11B (putative)	chr3:182511288-182639423	P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]		 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005637;nuclear inner membrane;NAS|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015075;ion transmembrane transporter activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP11B	https://www.uniprot.org/uniprot/Q9Y2G3		https://www.ncbi.nlm.nih.gov/omim/?term=605869	http://www.informatics.jax.org/searchtool/Search.do?query=ATP11B&submit=Quick%0D%1028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP11B	rs661774	0.647165	0.7333	0.7087	1	0	0	intronic	intronic	intronic	ATP11B	ATP11B	ENSG00000058063	Na	Na	Na	Na	Na	Na	Het;G>T	249;7|10	Hom;G>T	299;0|11
N	N	-	3	182576923	182576923	T	A	snp	intronic	 	 	 	 	ATP11B	Atp11b	ENSG00000058063	ATPase phospholipid transporting 11B (putative)	chr3:182511288-182639423	P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]		 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005637;nuclear inner membrane;NAS|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015075;ion transmembrane transporter activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP11B	https://www.uniprot.org/uniprot/Q9Y2G3		https://www.ncbi.nlm.nih.gov/omim/?term=605869	http://www.informatics.jax.org/searchtool/Search.do?query=ATP11B&submit=Quick%0D%1028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP11B	rs645597	0.647165	0.7368	0.7331	1	0	0	intronic	intronic	intronic	ATP11B	ATP11B	ENSG00000058063	Na	Na	Na	Na	Na	Na	Het;T>A	174;10|9	Hom;T>A	392;0|14
N	N	-	3	182590354	182590354	C	T	snp	intronic	 	 	 	 	ATP11B	Atp11b	ENSG00000058063	ATPase phospholipid transporting 11B (putative)	chr3:182511288-182639423	P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]		 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005637;nuclear inner membrane;NAS|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015075;ion transmembrane transporter activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP11B	https://www.uniprot.org/uniprot/Q9Y2G3		https://www.ncbi.nlm.nih.gov/omim/?term=605869	http://www.informatics.jax.org/searchtool/Search.do?query=ATP11B&submit=Quick%0D%1028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP11B	rs771156	0.646366	0.7238	0.7123	1	0	0	intronic	intronic	intronic	ATP11B	ATP11B	ENSG00000058063	Na	Na	Na	Na	Na	Na	Het;C>T	934;26|40	Hom;C>T	1668;0|58
N	N	-	3	182598863	182598863	A	G	snp	intronic	 	 	 	 	ATP11B	Atp11b	ENSG00000058063	ATPase phospholipid transporting 11B (putative)	chr3:182511288-182639423	P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]		 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006811;ion transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005637;nuclear inner membrane;NAS|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015075;ion transmembrane transporter activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP11B	https://www.uniprot.org/uniprot/Q9Y2G3		https://www.ncbi.nlm.nih.gov/omim/?term=605869	http://www.informatics.jax.org/searchtool/Search.do?query=ATP11B&submit=Quick%0D%1028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP11B	rs796406	0.647165	0	0	1	0	0	intronic	intronic	intronic	ATP11B	ATP11B	ENSG00000058063	Na	Na	Na	Na	Na	Na	Het;A>G	239;8|10	Hom;A>G	666;0|21
N	N	-	3	182735182	182735182	C	A	snp	ncRNA_exonic	 	 	 	 	MCCC1-AS1																		rs6786878	0.953474	0.9325	0	1	0	0	intronic	intronic	ncRNA_exonic	MCCC1	MCCC1	ENSG00000243368	Na	Na	Na	Na	Na	Na	Het;C>A	180;8|9	Hom;C>A	362;0|14
N	N	-	3	182738159	182738159	A	C	snp	intronic	 	 	 	 	MCCC1	Mccc1	ENSG00000078070	methylcrotonoyl-CoA carboxylase 1	chr3:182733006-182833863	This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]	Parkinson Disease; Parkinson's disease; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Branched-chain amino acid catabolism	GO:0006552;leucine catabolic process;ISS|GO:0006768;biotin metabolic process;TAS|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0051291;protein heterooligomerization;NAS	GO:0002169;3-methylcrotonyl-CoA carboxylase complex, mitochondrial;NAS|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:1905202;methylcrotonoyl-CoA carboxylase complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004075;biotin carboxylase activity;NAS|GO:0004485;methylcrotonoyl-CoA carboxylase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;NAS|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MCCC1	https://www.uniprot.org/uniprot/Q96RQ3	https://hpo.jax.org/app/browse/search?q=MCCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609010	http://www.informatics.jax.org/searchtool/Search.do?query=MCCC1&submit=Quick%0D%1645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCCC1	rs9834143	0.917732	0	0	1	0	0	intronic	intronic	intronic	MCCC1	MCCC1	ENSG00000078070	Na	Na	Na	Na	Na	Na	Het;A>C	178;6|8	Hom;A>C	251;0|10
N	N	-	3	182790249	182790249	G	A	snp	synonymous SNV	C255T	L85L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MCCC1	Mccc1	ENSG00000078070	methylcrotonoyl-CoA carboxylase 1	chr3:182733006-182833863	This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]	Parkinson Disease; Parkinson's disease; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Branched-chain amino acid catabolism	GO:0006552;leucine catabolic process;ISS|GO:0006768;biotin metabolic process;TAS|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0051291;protein heterooligomerization;NAS	GO:0002169;3-methylcrotonyl-CoA carboxylase complex, mitochondrial;NAS|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:1905202;methylcrotonoyl-CoA carboxylase complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004075;biotin carboxylase activity;NAS|GO:0004485;methylcrotonoyl-CoA carboxylase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;NAS|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MCCC1	https://www.uniprot.org/uniprot/Q96RQ3	https://hpo.jax.org/app/browse/search?q=MCCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609010	http://www.informatics.jax.org/searchtool/Search.do?query=MCCC1&submit=Quick%0D%1645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCCC1	rs7622479	0.915535	0.8853	0.9297	1	0	0	exonic	exonic	exonic	MCCC1	MCCC1	ENSG00000078070	synonymous SNV	synonymous SNV	unknown	MCCC1:NM_020166:exon5:c.C396T:p.L132L,	MCCC1:uc011bqp.1:exon4:c.C255T:p.L85L,MCCC1:uc003flg.3:exon4:c.C69T:p.L23L,MCCC1:uc011bqq.1:exon4:c.C69T:p.L23L,MCCC1:uc003fle.3:exon5:c.C396T:p.L132L,	UNKNOWN	Het;G>A	495;39|27	Hom;G>A	2484;0|92
N	N	-	3	182817328	182817328	C	G	snp	UTR5	-100G>C	 	 	 	MCCC1	Mccc1	ENSG00000078070	methylcrotonoyl-CoA carboxylase 1	chr3:182733006-182833863	This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]	Parkinson Disease; Parkinson's disease; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 	Branched-chain amino acid catabolism	GO:0006552;leucine catabolic process;ISS|GO:0006768;biotin metabolic process;TAS|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0051291;protein heterooligomerization;NAS	GO:0002169;3-methylcrotonyl-CoA carboxylase complex, mitochondrial;NAS|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:1905202;methylcrotonoyl-CoA carboxylase complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004075;biotin carboxylase activity;NAS|GO:0004485;methylcrotonoyl-CoA carboxylase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;NAS|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MCCC1	https://www.uniprot.org/uniprot/Q96RQ3	https://hpo.jax.org/app/browse/search?q=MCCC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609010	http://www.informatics.jax.org/searchtool/Search.do?query=MCCC1&submit=Quick%0D%1645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCCC1	rs937652	0.544928	0	0	1	0	0	UTR5	UTR5	UTR5	MCCC1(NM_001293273:c.-4938G>C,NM_020166:c.-100G>C)	MCCC1(uc003fle.3:c.-100G>C,uc003flf.3:c.-4938G>C,uc011bqp.1:c.-100G>C,uc011bqq.1:c.-12806G>C)	ENSG00000078070(ENST00000265594:c.-100G>C,ENST00000476176:c.-100G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	2152;103|94	Hom;C>G	5248;0|194
N	N	-	3	182870082	182870082	G	A	snp	intronic	 	 	 	 	LAMP3	Lamp3	ENSG00000078081	lysosomal associated membrane protein 3	chr3:182840001-182881627	Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]	Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Bipolar Disorder; Parkinson's disease	 		GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0010506;regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0035455;response to interferon-alpha;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:1901799;negative regulation of proteasomal protein catabolic process;IMP|GO:1903900;regulation of viral life cycle;IMP	GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097233;alveolar lamellar body membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LAMP3	https://www.uniprot.org/uniprot/Q9UQV4		https://www.ncbi.nlm.nih.gov/omim/?term=605883	http://www.informatics.jax.org/searchtool/Search.do?query=LAMP3&submit=Quick%0D%1646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMP3	rs682396	0.870607	0	0	1	0	0	intronic	intronic	intronic	LAMP3	LAMP3	ENSG00000078081	Na	Na	Na	Na	Na	Na	Het;G>A	169;5|7	Hom;G>A	388;0|14
N	N	-	3	182871962	182871962	C	T	snp	synonymous SNV	G267A	A89A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMP3	Lamp3	ENSG00000078081	lysosomal associated membrane protein 3	chr3:182840001-182881627	Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]	Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Bipolar Disorder; Parkinson's disease	 		GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0010506;regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0035455;response to interferon-alpha;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:1901799;negative regulation of proteasomal protein catabolic process;IMP|GO:1903900;regulation of viral life cycle;IMP	GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097233;alveolar lamellar body membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LAMP3	https://www.uniprot.org/uniprot/Q9UQV4		https://www.ncbi.nlm.nih.gov/omim/?term=605883	http://www.informatics.jax.org/searchtool/Search.do?query=LAMP3&submit=Quick%0D%1646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMP3	rs653316	0.785942	0.8170	0.8076	1	0	0	exonic	exonic	exonic	LAMP3	LAMP3	ENSG00000078081	synonymous SNV	synonymous SNV	unknown	LAMP3:NM_014398:exon2:c.G267A:p.A89A,	LAMP3:uc003flh.4:exon2:c.G267A:p.A89A,	UNKNOWN	Het;C>T	2199;124|108	Hom;C>T	4407;0|160
N	N	-	3	182880495	182880495	C	A	snp	UTR5	-52G>T	 	 	 	LAMP3	Lamp3	ENSG00000078081	lysosomal associated membrane protein 3	chr3:182840001-182881627	Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]	Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Bipolar Disorder; Parkinson's disease	 		GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0010506;regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0035455;response to interferon-alpha;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:1901799;negative regulation of proteasomal protein catabolic process;IMP|GO:1903900;regulation of viral life cycle;IMP	GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097233;alveolar lamellar body membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LAMP3	https://www.uniprot.org/uniprot/Q9UQV4		https://www.ncbi.nlm.nih.gov/omim/?term=605883	http://www.informatics.jax.org/searchtool/Search.do?query=LAMP3&submit=Quick%0D%1646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMP3	rs11543123	0.0828674	0.1200	0.1378	1	0	0	UTR5	UTR5	UTR5	LAMP3(NM_014398:c.-52G>T)	LAMP3(uc003flh.4:c.-52G>T)	ENSG00000078081(ENST00000265598:c.-52G>T,ENST00000476015:c.-52G>T,ENST00000470251:c.-8339G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	390;23|20	Hom;C>A	754;0|30
N	N	-	3	182899008	182899008	A	G	snp	intronic	 	 	 	 	MCF2L2	 	ENSG00000053524	MCF.2 cell line derived transforming sequence-like 2	chr3:182895831-183146566		Tobacco Use Disorder; Behcet Syndrome; Polycystic Ovary Syndrome; Type 2 diabetes; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic	 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MCF2L2	https://www.uniprot.org/uniprot/Q86YR7			http://www.informatics.jax.org/searchtool/Search.do?query=MCF2L2&submit=Quick%0D%960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCF2L2	rs529055	0.823482	0	0	1	0	0	intronic	intronic	intronic	MCF2L2	MCF2L2	ENSG00000053524	Na	Na	Na	Na	Na	Na	Het;A>G	210;16|11	Hom;A>G	861;0|33
N	N	-	3	183161510	183161510	T	C	snp	intergenic	 	 	 	 	MCF2L2	 	ENSG00000053524	MCF.2 cell line derived transforming sequence-like 2	chr3:182895831-183146566		Tobacco Use Disorder; Behcet Syndrome; Polycystic Ovary Syndrome; Type 2 diabetes; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic	 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MCF2L2	https://www.uniprot.org/uniprot/Q86YR7			http://www.informatics.jax.org/searchtool/Search.do?query=MCF2L2&submit=Quick%0D%960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCF2L2	rs6805188	0.342252	0	0	1	0	0	intergenic	intergenic	intergenic	MCF2L2(dist=15453),LINC00888(dist=3886)	MCF2L2(dist=15655),LINC00888(dist=3886)	ENSG00000053524(dist=14944),ENSG00000240024(dist=3886)	Na	Na	Na	Na	Na	Na	Het;T>C	90;2|5	Hom;T>C	110;0|5
N	N	-	3	183558402	183558402	C	G	snp	nonsynonymous SNV	G784C	V262L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PARL	Parl	ENSG00000175193	presenilin associated rhomboid like	chr3:183547173-183602721	This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]	Optic Atrophy, Hereditary, Leber; insulin; Acquired Immunodeficiency Syndrome|Disease Progression; metabolic syndrome; diabetes, type 2; Glaucoma, Open-Angle	Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy.	Processing of SMDT1	GO:0006508;proteolysis;IGI|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0010821;regulation of mitochondrion organization;IMP|GO:0030162;regulation of proteolysis;IGI|GO:0033619;membrane protein proteolysis;NAS|GO:1903214;regulation of protein targeting to mitochondrion;IGI|GO:2000377;regulation of reactive oxygen species metabolic process;IMP	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004175;endopeptidase activity;IGI|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARL			https://www.ncbi.nlm.nih.gov/omim/?term=607858	http://www.informatics.jax.org/searchtool/Search.do?query=PARL&submit=Quick%0D%13653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARL	rs3732581	0.455471	0.4865	0.4680	0.23	3	13	exonic	exonic	exonic	PARL	PARL	ENSG00000175193	nonsynonymous SNV	nonsynonymous SNV	unknown	PARL:NM_018622:exon7:c.G784C:p.V262L,PARL:NM_001037639:exon6:c.G634C:p.V212L,	PARL:uc003fme.3:exon6:c.G634C:p.V212L,PARL:uc003fmd.3:exon7:c.G784C:p.V262L,	UNKNOWN	Het;C>G	883;50|44	Hom;C>G	1951;0|75
N	N	-	3	183560195	183560195	A	G	snp	synonymous SNV	T648C	H216H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	PARL	Parl	ENSG00000175193	presenilin associated rhomboid like	chr3:183547173-183602721	This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]	Optic Atrophy, Hereditary, Leber; insulin; Acquired Immunodeficiency Syndrome|Disease Progression; metabolic syndrome; diabetes, type 2; Glaucoma, Open-Angle	Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy.	Processing of SMDT1	GO:0006508;proteolysis;IGI|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0010821;regulation of mitochondrion organization;IMP|GO:0030162;regulation of proteolysis;IGI|GO:0033619;membrane protein proteolysis;NAS|GO:1903214;regulation of protein targeting to mitochondrion;IGI|GO:2000377;regulation of reactive oxygen species metabolic process;IMP	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004175;endopeptidase activity;IGI|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARL			https://www.ncbi.nlm.nih.gov/omim/?term=607858	http://www.informatics.jax.org/searchtool/Search.do?query=PARL&submit=Quick%0D%13653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARL	rs13091	0.456869	0.4872	0.4683	1	0	0	exonic	exonic	exonic	PARL	PARL	ENSG00000175193	synonymous SNV	synonymous SNV	unknown	PARL:NM_018622:exon6:c.T648C:p.H216H,	PARL:uc003fmd.3:exon6:c.T648C:p.H216H,	UNKNOWN	Het;A>G	1131;52|56	Hom;A>G	3121;0|119
N	N	-	3	183560292	183560292	A	T	snp	intronic	 	 	 	 	PARL	Parl	ENSG00000175193	presenilin associated rhomboid like	chr3:183547173-183602721	This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]	Optic Atrophy, Hereditary, Leber; insulin; Acquired Immunodeficiency Syndrome|Disease Progression; metabolic syndrome; diabetes, type 2; Glaucoma, Open-Angle	Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy.	Processing of SMDT1	GO:0006508;proteolysis;IGI|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0010821;regulation of mitochondrion organization;IMP|GO:0030162;regulation of proteolysis;IGI|GO:0033619;membrane protein proteolysis;NAS|GO:1903214;regulation of protein targeting to mitochondrion;IGI|GO:2000377;regulation of reactive oxygen species metabolic process;IMP	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004175;endopeptidase activity;IGI|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARL			https://www.ncbi.nlm.nih.gov/omim/?term=607858	http://www.informatics.jax.org/searchtool/Search.do?query=PARL&submit=Quick%0D%13653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARL	rs7652031	0.457069	0	0	1	0	0	intronic	intronic	intronic	PARL	PARL	ENSG00000175193	Na	Na	Na	Na	Na	Na	Het;A>T	498;29|25	Hom;A>T	1072;0|38
N	N	-	3	183665062	183665062	G	C	snp	intronic	 	 	 	 	ABCC5	Abcc5	ENSG00000114770	ATP binding cassette subfamily C member 5	chr3:183637722-183735803	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Hearing Loss; Body Weight; Adenocarcinoma|Pancreatic Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; drug-related genes 	Mice homozygous for a knock-out allele display normal cGMP transport into erythrocyte membrane vesicles.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0015711;organic anion transport;IEA|GO:0030213;hyaluronan biosynthetic process;TAS|GO:0055085;transmembrane transport;TAS|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;TAS|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC5	https://www.uniprot.org/uniprot/O15440		https://www.ncbi.nlm.nih.gov/omim/?term=605251	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC5&submit=Quick%0D%4501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC5	rs1016752	0.784944	0.7201	0.6730	1	0	0	intronic	intronic	intronic	ABCC5	ABCC5	ENSG00000114770	Na	Na	Na	Na	Na	Na	Het;G>C	99;7|4	Hom;G>C	224;0|7
N	N	-	3	183754029	183754029	T	C	snp	intronic	 	 	 	 	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs6792482	0.533746	0	0	1	0	0	intronic	intronic	intronic	HTR3D	HTR3D	ENSG00000186090	Na	Na	Na	Na	Na	Na	Het;T>C	206;5|6	Hom;T>C	178;0|5
N	N	-	3	183754045	183754045	C	A	snp	intronic	 	 	 	 	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs6779545	0.534145	0	0	1	0	0	intronic	intronic	intronic	HTR3D	HTR3D	ENSG00000186090	Na	Na	Na	Na	Na	Na	Het;C>A	225;7|7	Hom;C>A	150;0|5
N	N	-	3	183754294	183754294	G	C	snp	nonsynonymous SNV	G107C	G36A	aliphatic,neutral	aliphatic,hydrophobic,neutral	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs6443930	0.533746	0.5159	0.4616	0.18	2	11	exonic;splicing	exonic;splicing	exonic;splicing	HTR3D;HTR3D(NM_001163646:exon4:c.511+1G>C)	HTR3D;HTR3D(uc011bqv.2:exon4:c.511+1G>C)	ENSG00000186090;ENSG00000186090(ENST00000382489:exon4:c.511+1G>C)	nonsynonymous SNV	nonsynonymous SNV	unknown	HTR3D:NM_182537:exon3:c.G107C:p.G36A,HTR3D:NM_001145143:exon4:c.G329C:p.G110A,	HTR3D:uc003fmj.3:exon3:c.G107C:p.G36A,HTR3D:uc011bqu.2:exon4:c.G329C:p.G110A,	UNKNOWN	Het;G>C	1301;127|66	Hom;G>C	4002;0|143
N	N	-	3	183755822	183755822	G	A	snp	nonsynonymous SNV	G674A	R225H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs1000952	0.763978	0.6988	0.6623	0.42	5	12	exonic	exonic	exonic	HTR3D	HTR3D	ENSG00000186090	nonsynonymous SNV	nonsynonymous SNV	unknown	HTR3D:NM_001163646:exon6:c.G674A:p.R225H,HTR3D:NM_182537:exon4:c.G155A:p.R52H,HTR3D:NM_001145143:exon6:c.G530A:p.R177H,	HTR3D:uc003fmj.3:exon4:c.G155A:p.R52H,HTR3D:uc011bqv.2:exon6:c.G674A:p.R225H,HTR3D:uc010hxp.3:exon2:c.G17A:p.R6H,HTR3D:uc011bqu.2:exon6:c.G530A:p.R177H,	UNKNOWN	Het;G>A	552;23|28	Hom;G>A	1133;0|45
N	N	-	3	183756426	183756426	T	C	snp	intronic	 	 	 	 	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs6799766	0.676518	0.6533	0.6148	1	0	0	intronic	intronic	intronic	HTR3D	HTR3D	ENSG00000186090	Na	Na	Na	Na	Na	Na	Het;T>C	701;37|34	Hom;T>C	1331;2|47
N	N	-	3	183756702	183756702	G	A	snp	nonsynonymous SNV	G1304A	R435H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs6789754	0.678514	0.6539	0.6006	0.31	4	13	exonic	exonic	exonic	HTR3D	HTR3D	ENSG00000186090	nonsynonymous SNV	nonsynonymous SNV	unknown	HTR3D:NM_001163646:exon8:c.G1304A:p.R435H,HTR3D:NM_182537:exon6:c.G779A:p.R260H,HTR3D:NM_001145143:exon8:c.G1154A:p.R385H,	HTR3D:uc003fmj.3:exon6:c.G779A:p.R260H,HTR3D:uc011bqv.2:exon8:c.G1304A:p.R435H,HTR3D:uc010hxp.3:exon4:c.G641A:p.R214H,HTR3D:uc011bqu.2:exon8:c.G1154A:p.R385H,	UNKNOWN	Het;G>A	1365;63|62	Hom;G>A	3619;0|137
N	N	-	3	183756742	183756742	C	T	snp	synonymous SNV	C819T	V273V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs55674402	0.311102	0.3391	0.3639	1	0	0	exonic	exonic	exonic	HTR3D	HTR3D	ENSG00000186090	synonymous SNV	synonymous SNV	unknown	HTR3D:NM_001163646:exon8:c.C1344T:p.V448V,HTR3D:NM_182537:exon6:c.C819T:p.V273V,HTR3D:NM_001145143:exon8:c.C1194T:p.V398V,	HTR3D:uc003fmj.3:exon6:c.C819T:p.V273V,HTR3D:uc011bqv.2:exon8:c.C1344T:p.V448V,HTR3D:uc010hxp.3:exon4:c.C681T:p.V227V,HTR3D:uc011bqu.2:exon8:c.C1194T:p.V398V,	UNKNOWN	Het;C>T	1314;56|62	Hom;C>T	3210;0|119
N	N	-	3	183756780	183756780	A	C	snp	UTR3	*17A>C	 	 	 	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs6765152	0.776358	0.6994	0.6740	1	0	0	UTR3	UTR3	UTR3	HTR3D(NM_182537:c.*17A>C,NM_001145143:c.*17A>C,NM_001163646:c.*17A>C)	HTR3D(uc003fmj.3:c.*17A>C,uc011bqu.2:c.*17A>C,uc011bqv.2:c.*17A>C,uc010hxp.3:c.*17A>C)	ENSG00000186090(ENST00000334128:c.*17A>C,ENST00000382489:c.*17A>C,ENST00000453435:c.*17A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	1173;49|56	Hom;A>C	2458;0|89
N	N	-	3	183756836	183756836	A	AT	indel	UTR3	*73A>AT	 	 	 	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs11274156	0	0	0	1	0	0	UTR3	UTR3	UTR3	HTR3D(NM_182537:c.*73A>AT,NM_001145143:c.*73A>AT,NM_001163646:c.*73A>AT)	HTR3D(uc003fmj.3:c.*73A>AT,uc011bqu.2:c.*73A>AT,uc011bqv.2:c.*73A>AT,uc010hxp.3:c.*73A>AT)	ENSG00000186090(ENST00000334128:c.*73A>AT,ENST00000382489:c.*73A>AT,ENST00000453435:c.*73A>AT)	Na	Na	Na	Na	Na	Na	Het;+T	1161;18|32	Hom;+T	1411;0|34
N	N	-	3	183756837	183756837	G	GTCAGTCCAAATT	indel	UTR3	*74G>GTCAGTCCAAATT	 	 	 	HTR3D		ENSG00000186090	5-hydroxytryptamine receptor 3D	chr3:183749332-183757157	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]	Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone		Ligand-gated ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HTR3D			https://www.ncbi.nlm.nih.gov/omim/?term=610122	http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D	rs59505859	0	0	0	1	0	0	UTR3	UTR3	UTR3	HTR3D(NM_182537:c.*74G>GTCAGTCCAAATT,NM_001145143:c.*74G>GTCAGTCCAAATT,NM_001163646:c.*74G>GTCAGTCCAAATT)	HTR3D(uc003fmj.3:c.*74G>GTCAGTCCAAATT,uc011bqu.2:c.*74G>GTCAGTCCAAATT,uc011bqv.2:c.*74G>GTCAGTCCAAATT,uc010hxp.3:c.*74G>GTCAGTCCAAATT)	ENSG00000186090(ENST00000334128:c.*74G>GTCAGTCCAAATT,ENST00000382489:c.*74G>GTCAGTCCAAATT,ENST00000453435:c.*74G>GTCAGTCCAAATT)	Na	Na	Na	Na	Na	Na	Het;+TCAGTCCAAATT	1162;18|29	Hom;+TCAGTCCAAATT	1412;0|31
N	N	-	3	183896641	183896641	T	C	snp	intronic	 	 	 	 	AP2M1	Ap2m1	ENSG00000161203	adaptor related protein complex 2 mu 1 subunit	chr3:183892477-183901879	This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]	Kidney Failure, Chronic; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a targeted deletion display embryonic lethality before implantation.	LDL clearance	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0015031;protein transport;IEA|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032802;low-density lipoprotein particle receptor catabolic process;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS|GO:1903077;negative regulation of protein localization to plasma membrane;IMP	GO:0005739;mitochondrion;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0036020;endolysosome membrane;TAS|GO:0043195;terminal bouton;IEA|GO:0070062;extracellular exosome;IDA	GO:0005048;signal sequence binding;IDA|GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0035615;clathrin adaptor activity;TAS|GO:0044325;ion channel binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;ISS|GO:0097718;disordered domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AP2M1			https://www.ncbi.nlm.nih.gov/omim/?term=601024	http://www.informatics.jax.org/searchtool/Search.do?query=AP2M1&submit=Quick%0D%10563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP2M1	rs2231216	0.419329	0.3997	0.4673	1	0	0	intronic	intronic	intronic	AP2M1	AP2M1	ENSG00000145191,ENSG00000161203	Na	Na	Na	Na	Na	Na	Het;T>C	689;19|30	Hom;T>C	1004;0|36
N	N	-	3	184026703	184026703	C	T	snp	UTR3	*25C>T	 	 	 	PSMD2	Psmd2	ENSG00000175166	proteasome 26S subunit, non-ATPase 2	chr3:184016497-184026842	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]	Multiple Sclerosis; longevity	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042176;regulation of protein catabolic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS	GO:0000502;proteasome complex;TAS|GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005838;proteasome regulatory particle;TAS|GO:0016020;membrane;IDA|GO:0022624;proteasome accessory complex;IEA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0005515;protein binding;IPI|GO:0030234;enzyme regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSMD2			https://www.ncbi.nlm.nih.gov/omim/?term=606223	http://www.informatics.jax.org/searchtool/Search.do?query=PSMD2&submit=Quick%0D%13647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMD2	rs6845	0.298922	0.3680	0.4072	1	0	0	UTR3	UTR3	UTR3	PSMD2(NM_002808:c.*25C>T,NM_001278708:c.*25C>T,NM_001278709:c.*25C>T)	PSMD2(uc003fnn.1:c.*25C>T,uc011brj.1:c.*25C>T,uc011brk.1:c.*25C>T)	ENSG00000175166(ENST00000310118:c.*25C>T,ENST00000439383:c.*25C>T,ENST00000435761:c.*25C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	406;12|16	Hom;C>T	1145;2|43
N	N	-	3	184062776	184062776	A	G	snp	UTR3	*18A>G	 	 	 	FAM131A	Fam131a	ENSG00000175182	family with sequence similarity 131 member A	chr3:184053714-184064063			 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM131A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM131A&submit=Quick%0D%13650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM131A	rs9839000	0.235423	0.2963	0.3669	1	0	0	UTR3	UTR3	UTR3	FAM131A(NM_001171093:c.*18A>G,NM_144635:c.*18A>G)	FAM131A(uc003foc.3:c.*18A>G,uc003foe.3:c.*18A>G,uc003fog.3:c.*18A>G)	ENSG00000175182(ENST00000450976:c.*18A>G,ENST00000340957:c.*18A>G,ENST00000383847:c.*18A>G,ENST00000310585:c.*18A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	809;33|37	Hom;A>G	1673;0|60
N	N	-	3	184071017	184071017	G	A	snp	intronic	 	 	 	 	CLCN2	Clcn2	ENSG00000114859	chloride voltage-gated channel 2	chr3:184063973-184079439	This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]	epilepsy; cystic fibrosis; Epilepsy, Generalized	Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060689;cell differentiation involved in salivary gland development;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;TAS|GO:0005254;chloride channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCN2	https://www.uniprot.org/uniprot/P51788	https://hpo.jax.org/app/browse/search?q=CLCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600570	http://www.informatics.jax.org/searchtool/Search.do?query=CLCN2&submit=Quick%0D%4514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN2	rs41266265	0.148962	0.2124	0.2240	1	0	0	intronic	intronic	intronic	CLCN2	CLCN2	ENSG00000114859,ENSG00000145191	Na	Na	Na	Na	Na	Na	Het;G>A	1300;33|34	Hom;G>A	2880;0|65
N	N	-	3	184071019	184071019	T	C	snp	intronic	 	 	 	 	CLCN2	Clcn2	ENSG00000114859	chloride voltage-gated channel 2	chr3:184063973-184079439	This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]	epilepsy; cystic fibrosis; Epilepsy, Generalized	Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060689;cell differentiation involved in salivary gland development;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;TAS|GO:0005254;chloride channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCN2	https://www.uniprot.org/uniprot/P51788	https://hpo.jax.org/app/browse/search?q=CLCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600570	http://www.informatics.jax.org/searchtool/Search.do?query=CLCN2&submit=Quick%0D%4514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN2	rs11920716	0.188898	0.2507	0.2352	1	0	0	intronic	intronic	intronic	CLCN2	CLCN2	ENSG00000114859,ENSG00000145191	Na	Na	Na	Na	Na	Na	Het;T>C	1300;33|34	Hom;T>C	2880;0|63
N	N	-	3	184071063	184071063	G	C	snp	nonsynonymous SNV	C1871G	T624S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CLCN2	Clcn2	ENSG00000114859	chloride voltage-gated channel 2	chr3:184063973-184079439	This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]	epilepsy; cystic fibrosis; Epilepsy, Generalized	Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060689;cell differentiation involved in salivary gland development;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;TAS|GO:0005254;chloride channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCN2	https://www.uniprot.org/uniprot/P51788	https://hpo.jax.org/app/browse/search?q=CLCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600570	http://www.informatics.jax.org/searchtool/Search.do?query=CLCN2&submit=Quick%0D%4514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN2	rs9820367	0.461262	0.5938	0.4896	0.23	3	13	exonic	exonic	exonic	CLCN2	CLCN2	ENSG00000114859	nonsynonymous SNV	nonsynonymous SNV	unknown	CLCN2:NM_001171088:exon16:c.C1871G:p.T624S,CLCN2:NM_001171089:exon17:c.C2003G:p.T668S,CLCN2:NM_001171087:exon17:c.C1952G:p.T651S,CLCN2:NM_004366:exon17:c.C2003G:p.T668S,	CLCN2:uc003foi.4:exon17:c.C2003G:p.T668S,CLCN2:uc011brm.3:exon16:c.C1871G:p.T624S,CLCN2:uc011brl.3:exon17:c.C2003G:p.T668S,CLCN2:uc003foh.4:exon7:c.C575G:p.T192S,CLCN2:uc010hya.3:exon17:c.C1952G:p.T651S,	UNKNOWN	Het;G>C	801;47|38	Hom;G>C	2324;0|84
N	N	-	3	184072459	184072459	G	A	snp	intronic	 	 	 	 	CLCN2	Clcn2	ENSG00000114859	chloride voltage-gated channel 2	chr3:184063973-184079439	This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]	epilepsy; cystic fibrosis; Epilepsy, Generalized	Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060689;cell differentiation involved in salivary gland development;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;TAS|GO:0005254;chloride channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCN2	https://www.uniprot.org/uniprot/P51788	https://hpo.jax.org/app/browse/search?q=CLCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600570	http://www.informatics.jax.org/searchtool/Search.do?query=CLCN2&submit=Quick%0D%4514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN2	rs73189624	0.154553	0.2185	0.2224	1	0	0	intronic	intronic	intronic	CLCN2	CLCN2	ENSG00000114859,ENSG00000145191	Na	Na	Na	Na	Na	Na	Het;G>A	919;18|45	Hom;G>A	1984;0|73
N	N	-	3	184075958	184075958	C	T	snp	intronic	 	 	 	 	CLCN2	Clcn2	ENSG00000114859	chloride voltage-gated channel 2	chr3:184063973-184079439	This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]	epilepsy; cystic fibrosis; Epilepsy, Generalized	Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060689;cell differentiation involved in salivary gland development;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;TAS|GO:0005254;chloride channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLCN2	https://www.uniprot.org/uniprot/P51788	https://hpo.jax.org/app/browse/search?q=CLCN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600570	http://www.informatics.jax.org/searchtool/Search.do?query=CLCN2&submit=Quick%0D%4514ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN2	rs41266271	0.152955	0.2252	0.2329	1	0	0	intronic	intronic	intronic	CLCN2	CLCN2	ENSG00000114859,ENSG00000145191	Na	Na	Na	Na	Na	Na	Het;C>T	953;54|45	Hom;C>T	2855;1|107
N	N	-	3	184098647	184098647	C	T	snp	intronic	 	 	 	 	CHRD	Chrd	ENSG00000090539	chordin	chr3:184097861-184108524	This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]	Alcoholism; Bone Mineral Density; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Hip	Homozygotes for a targeted null mutation show some death prior to embryonic day 8.5, but most die perinatally with abnormalities of the skull, malformations of cervical and thoracic vertebrae, cardiovascular defects, and absence of parathyroid and thymus.		GO:0001501;skeletal system development;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001707;mesoderm formation;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IMP|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007417;central nervous system development;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0021919;BMP signaling pathway involved in spinal cord dorsal/ventral patterning;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IMP|GO:0030900;forebrain development;IEA|GO:0033504;floor plate development;TAS|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045785;positive regulation of cell adhesion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS	GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0019955;cytokine binding;NAS|GO:0045545;syndecan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHRD	https://www.uniprot.org/uniprot/Q9H2X0		https://www.ncbi.nlm.nih.gov/omim/?term=603475	http://www.informatics.jax.org/searchtool/Search.do?query=CHRD&submit=Quick%0D%2107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRD	rs885650	0.165735	0	0	1	0	0	intronic	intronic	intronic	CHRD	CHRD	ENSG00000090539,ENSG00000145191	Na	Na	Na	Na	Na	Na	Het;C>T	134;15|9	Hom;C>T	930;0|35
N	N	-	3	184099378	184099378	C	A	snp	synonymous SNV	C477A	G159G	aliphatic,neutral	aliphatic,neutral	CHRD	Chrd	ENSG00000090539	chordin	chr3:184097861-184108524	This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]	Alcoholism; Bone Mineral Density; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Hip	Homozygotes for a targeted null mutation show some death prior to embryonic day 8.5, but most die perinatally with abnormalities of the skull, malformations of cervical and thoracic vertebrae, cardiovascular defects, and absence of parathyroid and thymus.		GO:0001501;skeletal system development;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001707;mesoderm formation;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IMP|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007417;central nervous system development;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0021919;BMP signaling pathway involved in spinal cord dorsal/ventral patterning;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IMP|GO:0030900;forebrain development;IEA|GO:0033504;floor plate development;TAS|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045785;positive regulation of cell adhesion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS	GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0019955;cytokine binding;NAS|GO:0045545;syndecan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHRD	https://www.uniprot.org/uniprot/Q9H2X0		https://www.ncbi.nlm.nih.gov/omim/?term=603475	http://www.informatics.jax.org/searchtool/Search.do?query=CHRD&submit=Quick%0D%2107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRD	rs35929225	0.16254	0.2512	0.2592	1	0	0	exonic	exonic	exonic	CHRD	CHRD	ENSG00000090539	synonymous SNV	synonymous SNV	unknown	CHRD:NM_003741:exon4:c.C477A:p.G159G,CHRD:NM_001304472:exon4:c.C477A:p.G159G,	CHRD:uc003fox.3:exon4:c.C477A:p.G159G,CHRD:uc003fov.3:exon4:c.C477A:p.G159G,	UNKNOWN	Het;C>A	989;54|45	Hom;C>A	2541;4|94
N	N	-	3	184100961	184100961	G	GT	indel	intronic	 	 	 	 	CHRD	Chrd	ENSG00000090539	chordin	chr3:184097861-184108524	This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]	Alcoholism; Bone Mineral Density; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Hip	Homozygotes for a targeted null mutation show some death prior to embryonic day 8.5, but most die perinatally with abnormalities of the skull, malformations of cervical and thoracic vertebrae, cardiovascular defects, and absence of parathyroid and thymus.		GO:0001501;skeletal system development;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001707;mesoderm formation;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IMP|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007417;central nervous system development;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0021919;BMP signaling pathway involved in spinal cord dorsal/ventral patterning;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IMP|GO:0030900;forebrain development;IEA|GO:0033504;floor plate development;TAS|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045785;positive regulation of cell adhesion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS	GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0019955;cytokine binding;NAS|GO:0045545;syndecan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHRD	https://www.uniprot.org/uniprot/Q9H2X0		https://www.ncbi.nlm.nih.gov/omim/?term=603475	http://www.informatics.jax.org/searchtool/Search.do?query=CHRD&submit=Quick%0D%2107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRD	rs3833587	0.309305	0.0566	0.3775	1	0	0	intronic	intronic	intronic	CHRD	CHRD	ENSG00000090539,ENSG00000145191	Na	Na	Na	Na	Na	Na	Het;+T	1740;22|51	Hom;+T	3060;2|83
N	N	-	3	184104050	184104050	G	A	snp	intronic	 	 	 	 	CHRD	Chrd	ENSG00000090539	chordin	chr3:184097861-184108524	This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]	Alcoholism; Bone Mineral Density; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Hip	Homozygotes for a targeted null mutation show some death prior to embryonic day 8.5, but most die perinatally with abnormalities of the skull, malformations of cervical and thoracic vertebrae, cardiovascular defects, and absence of parathyroid and thymus.		GO:0001501;skeletal system development;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001707;mesoderm formation;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IMP|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007417;central nervous system development;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0021919;BMP signaling pathway involved in spinal cord dorsal/ventral patterning;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IMP|GO:0030900;forebrain development;IEA|GO:0033504;floor plate development;TAS|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045785;positive regulation of cell adhesion;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS	GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0019955;cytokine binding;NAS|GO:0045545;syndecan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHRD	https://www.uniprot.org/uniprot/Q9H2X0		https://www.ncbi.nlm.nih.gov/omim/?term=603475	http://www.informatics.jax.org/searchtool/Search.do?query=CHRD&submit=Quick%0D%2107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRD	rs62287513	0.171925	0	0	1	0	0	intronic	intronic	intronic	CHRD	CHRD	ENSG00000090539,ENSG00000145191	Na	Na	Na	Na	Na	Na	Het;G>A	159;14|9	Hom;G>A	568;0|20
N	N	-	3	184475884	184475884	A	T	snp	ncRNA_exonic	 	 	 	 	LOC101928992																		rs9849043	0.293331	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101928992	MAGEF1(dist=46048),VPS8(dist=54047)	ENSG00000229433	Na	Na	Na	Na	Na	Na	Het;A>T	865;37|39	Hom;A>T	1853;0|70
N	N	-	3	186370333	186370333	G	T	snp	synonymous SNV	G1062T	V354V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FETUB	Fetub	ENSG00000090512	fetuin B	chr3:186353758-186370930	The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit female infertility due to premature hardening of the zona pellucida.		GO:0007338;single fertilization;IEA|GO:0007339;binding of sperm to zona pellucida;IBA|GO:0008150;biological_process;ND|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0004857;enzyme inhibitor activity;IEA|GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0008191;metalloendopeptidase inhibitor activity;IBA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FETUB	https://www.uniprot.org/uniprot/Q9UGM5		https://www.ncbi.nlm.nih.gov/omim/?term=605954	http://www.informatics.jax.org/searchtool/Search.do?query=FETUB&submit=Quick%0D%2103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FETUB	rs1131364	0.655751	0.5534	0.5402	1	0	0	exonic	exonic	exonic	FETUB	FETUB	ENSG00000090512	synonymous SNV	synonymous SNV	unknown	FETUB:NM_014375:exon7:c.G1062T:p.V354V,	FETUB:uc010hyq.3:exon8:c.G1062T:p.V354V,FETUB:uc003fqp.4:exon5:c.G867T:p.V289V,FETUB:uc003fqn.3:exon7:c.G1062T:p.V354V,FETUB:uc010hyr.3:exon6:c.G951T:p.V317V,FETUB:uc011brz.2:exon5:c.G618T:p.V206V,FETUB:uc010hys.3:exon6:c.G618T:p.V206V,	UNKNOWN	Het;G>T	899;79|46	Hom;G>T	3205;0|122
N	N	-	3	187088656	187088656	C	T	snp	nonsynonymous SNV	C236T	T79I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	RTP4	Rtp4	ENSG00000136514	receptor transporter protein 4	chr3:187086120-187089864		Echocardiography	 	Olfactory Signaling Pathway	GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0051205;protein insertion into membrane;IBA	GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RTP4	https://www.uniprot.org/uniprot/Q96DX8		https://www.ncbi.nlm.nih.gov/omim/?term=609350	http://www.informatics.jax.org/searchtool/Search.do?query=RTP4&submit=Quick%0D%7356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP4	rs1047584	0.179712	0.2216	0.2037	0.38	5	13	exonic	exonic	exonic	RTP4	RTP4	ENSG00000136514	nonsynonymous SNV	nonsynonymous SNV	unknown	RTP4:NM_022147:exon2:c.C236T:p.T79I,	RTP4:uc003frm.3:exon2:c.C236T:p.T79I,	UNKNOWN	Het;C>T	957;54|44	Hom;C>T	2985;2|113
N	N	-	3	187416253	187416253	C	T	snp	UTR3	*33G>A	 	 	 	RTP2	Rtp2	ENSG00000198471	receptor transporter protein 2	chr3:187416047-187420345			Mice homozygous for a knock-out allele exhibit infertility.	Olfactory Signaling Pathway	GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IBA|GO:0006612;protein targeting to membrane;IBA|GO:0051205;protein insertion into membrane;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RTP2			https://www.ncbi.nlm.nih.gov/omim/?term=609138	http://www.informatics.jax.org/searchtool/Search.do?query=RTP2&submit=Quick%0D%16903ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP2	rs1523468	0.492013	0.4606	0.6091	1	0	0	UTR3	UTR3	UTR3	RTP2(NM_001004312:c.*33G>A)	RTP2(uc003fro.1:c.*33G>A)	ENSG00000198471(ENST00000358241:c.*33G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	283;13|11	Hom;C>T	782;0|29
N	N	-	3	187416634	187416634	C	A	snp	synonymous SNV	G330T	L110L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RTP2	Rtp2	ENSG00000198471	receptor transporter protein 2	chr3:187416047-187420345			Mice homozygous for a knock-out allele exhibit infertility.	Olfactory Signaling Pathway	GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IBA|GO:0006612;protein targeting to membrane;IBA|GO:0051205;protein insertion into membrane;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RTP2			https://www.ncbi.nlm.nih.gov/omim/?term=609138	http://www.informatics.jax.org/searchtool/Search.do?query=RTP2&submit=Quick%0D%16903ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP2	rs1973791	0.488419	0.4563	0.5908	1	0	0	exonic	exonic	exonic	RTP2	RTP2	ENSG00000198471	synonymous SNV	synonymous SNV	unknown	RTP2:NM_001004312:exon2:c.G330T:p.L110L,	RTP2:uc003fro.1:exon2:c.G330T:p.L110L,	UNKNOWN	Het;C>A	1575;79|71	Hom;C>A	3646;0|132
N	N	-	3	187416719	187416719	T	C	snp	nonsynonymous SNV	A245G	Q82R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	RTP2	Rtp2	ENSG00000198471	receptor transporter protein 2	chr3:187416047-187420345			Mice homozygous for a knock-out allele exhibit infertility.	Olfactory Signaling Pathway	GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IBA|GO:0006612;protein targeting to membrane;IBA|GO:0051205;protein insertion into membrane;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/RTP2			https://www.ncbi.nlm.nih.gov/omim/?term=609138	http://www.informatics.jax.org/searchtool/Search.do?query=RTP2&submit=Quick%0D%16903ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP2	rs11707167	0.496805	0.4633	0.5998	0.08	1	13	exonic	exonic	exonic	RTP2	RTP2	ENSG00000198471	nonsynonymous SNV	nonsynonymous SNV	unknown	RTP2:NM_001004312:exon2:c.A245G:p.Q82R,	RTP2:uc003fro.1:exon2:c.A245G:p.Q82R,	UNKNOWN	Het;T>C	1421;44|65	Hom;T>C	2680;0|96
N	N	-	3	187440506	187440506	C	A	snp	ncRNA_intronic	 	 	 	 	LOC100131635																		rs1005099	0.502796	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	LOC100131635	LOC100131635	ENSG00000113916,ENSG00000228804	Na	Na	Na	Na	Na	Na	Het;C>A	43;12|4	Hom;C>A	331;0|11
N	N	-	3	187447032	187447032	G	A	snp	synonymous SNV	C1161T	N387N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	BCL6	Bcl6	ENSG00000113916	B-cell CLL/lymphoma 6	chr3:187439165-187463515	The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]	lung cancer; Waldenstrom macroglobulinaemia; Cell Adhesion Molecules; Chronic renal failure|Kidney Failure, Chronic; plasma HDL cholesterol (HDL-C) levels; bladder cancer; Blood Urea Nitrogen; Platelet Count; lymphoma, follicle center; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; chronic obstructive pulmonary disease; Leukemia, Lymphocytic, Chronic, B-Cell; Central Nervous System Neoplasms|Central Nervous System Tumors|HIV Infections|Lymphoma, AIDS-Related|[X]Human immunodeficiency virus disease; Cholesterol, HDL; follicle center lymphoma; lung cancer ; benzene haematotoxicity; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; esophageal adenocarcinoma; diffuse large-cell subtype; primary bone lymphomas.; Lipoproteins, HDL; lymphoma; Eosinophils; follicular lymphoma; Lymphoma, Non-Hodgkin; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Atopy; Tobacco Use Disorder	Homozygous null mutants develop myocarditis and pulmonary vasculitis, show impaired germinal center formation in the spleen, and display T helper 2 cell hyperimmune responsiveness.	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain	GO:0000060;protein import into nucleus, translocation;IGI|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000902;cell morphogenesis;IEA|GO:0001953;negative regulation of cell-matrix adhesion;IEA|GO:0002376;immune system process;IEA|GO:0002467;germinal center formation;IEA|GO:0002634;regulation of germinal center formation;NAS|GO:0002829;negative regulation of type 2 immune response;IEA|GO:0002903;negative regulation of B cell apoptotic process;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006954;inflammatory response;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007266;Rho protein signal transduction;IEA|GO:0007283;spermatogenesis;IEA|GO:0008104;protein localization;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030183;B cell differentiation;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030890;positive regulation of B cell proliferation;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0032764;negative regulation of mast cell cytokine production;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0042092;type 2 immune response;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043380;regulation of memory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IMP|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045629;negative regulation of T-helper 2 cell differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0048294;negative regulation of isotype switching to IgE isotypes;IEA|GO:0048821;erythrocyte development;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0050776;regulation of immune response;NAS|GO:0051272;positive regulation of cellular component movement;IEA|GO:1903464;negative regulation of mitotic cell cycle DNA replication;NAS|GO:2000773;negative regulation of cellular senescence;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IDA|GO:0005794;Golgi apparatus;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001161;intronic transcription regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCL6	https://www.uniprot.org/uniprot/P41182	https://hpo.jax.org/app/browse/search?q=BCL6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=109565	http://www.informatics.jax.org/searchtool/Search.do?query=BCL6&submit=Quick%0D%4418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL6	rs1056932	0.565296	0.4974	0.6435	1	0	0	exonic	exonic	exonic	BCL6	BCL6	ENSG00000113916	synonymous SNV	synonymous SNV	unknown	BCL6:NM_001130845:exon5:c.C1161T:p.N387N,BCL6:NM_001134738:exon4:c.C1161T:p.N387N,BCL6:NM_001706:exon5:c.C1161T:p.N387N,	BCL6:uc003frp.3:exon5:c.C1161T:p.N387N,BCL6:uc011bsf.1:exon4:c.C1161T:p.N387N,BCL6:uc003frq.2:exon5:c.C1161T:p.N387N,BCL6:uc010hza.2:exon5:c.C855T:p.N285N,	UNKNOWN	Het;G>A	1016;76|50	Hom;G>A	3859;0|141
N	N	-	3	187794378	187794378	T	G	snp	intergenic	 	 	 	 	AC092941.1																		rs9838499	0.148163	0	0	1	0	0	intergenic	intergenic	intergenic	BCL6(dist=330865),LPP-AS2(dist=74616)	BCL6(dist=330865),LPP-AS2(dist=74616)	ENSG00000225058(dist=72600),ENSG00000234238(dist=30506)	Na	Na	Na	Na	Na	Na	Het;T>G	86;1|4	Hom;T>G	168;0|5
N	N	-	3	188327461	188327461	C	T	snp	synonymous SNV	C942T	D314D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LPP	Lpp	ENSG00000145012	LIM domain containing preferred translocation partner in lipoma	chr3:187871072-188608460	This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	coeliac disease; Immunoglobulin E; Alcohol Drinking; C-Reactive Protein; Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77); Celiac disease; Fibrinogen; Body Weight; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Body Mass Index; diabetes, type 1 ; Erythrocytes; Celiac Disease|; Autoimmune Diseases|melanoma|Vitiligo; Vitiligo; smoking cessation; Cholesterol, LDL; Hypertension; Celiac Disease; Triglycerides	Gene disruption results in fertility problems involving females but not males.  Migration and survival of MEFs are also abnormal.		GO:0007155;cell adhesion;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LPP	https://www.uniprot.org/uniprot/Q93052	https://hpo.jax.org/app/browse/search?q=LPP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600700	http://www.informatics.jax.org/searchtool/Search.do?query=LPP&submit=Quick%0D%8686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPP	rs1059380	0.586462	0.6251	0.5843	1	0	0	exonic	exonic	exonic	LPP	LPP	ENSG00000145012	synonymous SNV	synonymous SNV	unknown	LPP:NM_001167671:exon6:c.C942T:p.D314D,LPP:NM_005578:exon6:c.C942T:p.D314D,	LPP:uc003frt.3:exon5:c.C942T:p.D314D,LPP:uc011bsj.2:exon2:c.C453T:p.D151D,LPP:uc011bsi.2:exon6:c.C942T:p.D314D,LPP:uc003frs.2:exon6:c.C942T:p.D314D,	UNKNOWN	Het;C>T	1094;57|54	Hom;C>T	2753;0|100
N	N	-	3	189237328	189237328	A	G	snp	intergenic	 	 	 	 	TPRG1	Tprg	ENSG00000188001	tumor protein p63 regulated 1	chr3:188665003-189043093		Uric Acid; Coronary Disease; Parkinson's disease 	 			GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TPRG1				http://www.informatics.jax.org/searchtool/Search.do?query=TPRG1&submit=Quick%0D%15943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPRG1	rs1991155	0.372005	0	0	1	0	0	intergenic	intergenic	intergenic	TPRG1(dist=196057),TP63(dist=111888)	TPRG1(dist=196057),TP63(dist=111888)	ENSG00000188001(dist=194235),ENSG00000073282(dist=111888)	Na	Na	Na	Na	Na	Na	Het;A>G	389;13|20	Hom;A>G	2658;0|60
N	N	-	3	189237356	189237356	A	G	snp	intergenic	 	 	 	 	TPRG1	Tprg	ENSG00000188001	tumor protein p63 regulated 1	chr3:188665003-189043093		Uric Acid; Coronary Disease; Parkinson's disease 	 			GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TPRG1				http://www.informatics.jax.org/searchtool/Search.do?query=TPRG1&submit=Quick%0D%15943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPRG1	rs1991156	0.758187	0	0	1	0	0	intergenic	intergenic	intergenic	TPRG1(dist=196085),TP63(dist=111860)	TPRG1(dist=196085),TP63(dist=111860)	ENSG00000188001(dist=194263),ENSG00000073282(dist=111860)	Na	Na	Na	Na	Na	Na	Het;A>G	206;9|7	Hom;A>G	1004;1|35
N	N	-	3	189363001	189363001	T	C	snp	intronic	 	 	 	 	TP63	Trp63	ENSG00000073282	tumor protein p63	chr3:189349205-189615068	This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]	chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; Receptors, Tumor Necrosis Factor, Type II; lung cancer; Urinary Bladder Neoplasms; Tobacco Use Disorder; proliferative potential of keratinocytes; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; cleft lip with cleft palate cleft lip without cleft palate; Cleft Lip|Cleft Palate; blastic crisis; bladder cancer; Cholesterol, LDL; Precursor Cell Lymphoblastic Leukemia-Lymphoma; urinary bladder cancer; Echocardiography; Brain imaging ; Pancreatic Neoplasms; Glomerular Filtration Rate; Lung Neoplasms; lung cancer 	There are two electrophoretic alleles known; allele a occurs in all complete t haplotype chromosomes and allele b in wild-type strains. There are multiple changes between the amino acid sequences of the TCP1A and TCP1B proteins encoded by the two alleles.	Regulation of TP53 Activity through Association with Co-factors	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0001302;replicative cell aging;IEA|GO:0001501;skeletal system development;IEA|GO:0001736;establishment of planar polarity;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001942;hair follicle development;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0002064;epithelial cell development;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;TAS|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IBA|GO:0007049;cell cycle;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007389;pattern specification process;IEA|GO:0007499;ectoderm and mesoderm interaction;IEA|GO:0007568;aging;IEA|GO:0007569;cell aging;IEA|GO:0008544;epidermis development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010165;response to X-ray;IBA|GO:0010259;multicellular organism aging;IEA|GO:0010332;response to gamma radiation;IBA|GO:0010481;epidermal cell division;IEA|GO:0010482;regulation of epidermal cell division;ISS|GO:0010838;positive regulation of keratinocyte proliferation;IEA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030850;prostate gland development;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0030859;polarized epithelial cell differentiation;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IBA|GO:0032502;developmental process;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0034644;cellular response to UV;IBA|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IBA|GO:0043281;regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043523;regulation of neuron apoptotic process;IBA|GO:0043589;skin morphogenesis;IEA|GO:0043616;keratinocyte proliferation;IEA|GO:0045617;negative regulation of keratinocyte differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0045747;positive regulation of Notch signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048485;sympathetic nervous system development;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0048807;female genitalia morphogenesis;IEA|GO:0051262;protein tetramerization;IEA|GO:0051289;protein homotetramerization;IPI|GO:0051402;neuron apoptotic process;IEA|GO:0060157;urinary bladder development;IEA|GO:0060197;cloacal septation;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;IEA|GO:0061436;establishment of skin barrier;ISS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904674;positive regulation of somatic stem cell population maintenance;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IDA|GO:2000381;negative regulation of mesoderm development;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0030425;dendrite;IBA|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA	GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003684;damaged DNA binding;IBA|GO:0003690;double-stranded DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050699;WW domain binding;IPI|GO:0097371;MDM2/MDM4 family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TP63	https://www.uniprot.org/uniprot/Q9H3D4	https://hpo.jax.org/app/browse/search?q=TP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603273	http://www.informatics.jax.org/searchtool/Search.do?query=TP63&submit=Quick%0D%1465ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP63	rs9842008	0.320088	0	0	1	0	0	intronic	intronic	intronic	TP63	TP63	ENSG00000073282	Na	Na	Na	Na	Na	Na	Het;T>C	675;29|32	Hom;T>C	1889;0|66
N	N	-	3	189456729	189456729	C	G	snp	intronic	 	 	 	 	TP63	Trp63	ENSG00000073282	tumor protein p63	chr3:189349205-189615068	This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]	chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; Receptors, Tumor Necrosis Factor, Type II; lung cancer; Urinary Bladder Neoplasms; Tobacco Use Disorder; proliferative potential of keratinocytes; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; cleft lip with cleft palate cleft lip without cleft palate; Cleft Lip|Cleft Palate; blastic crisis; bladder cancer; Cholesterol, LDL; Precursor Cell Lymphoblastic Leukemia-Lymphoma; urinary bladder cancer; Echocardiography; Brain imaging ; Pancreatic Neoplasms; Glomerular Filtration Rate; Lung Neoplasms; lung cancer 	There are two electrophoretic alleles known; allele a occurs in all complete t haplotype chromosomes and allele b in wild-type strains. There are multiple changes between the amino acid sequences of the TCP1A and TCP1B proteins encoded by the two alleles.	Regulation of TP53 Activity through Association with Co-factors	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0001302;replicative cell aging;IEA|GO:0001501;skeletal system development;IEA|GO:0001736;establishment of planar polarity;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001942;hair follicle development;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0002064;epithelial cell development;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;TAS|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IBA|GO:0007049;cell cycle;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007389;pattern specification process;IEA|GO:0007499;ectoderm and mesoderm interaction;IEA|GO:0007568;aging;IEA|GO:0007569;cell aging;IEA|GO:0008544;epidermis development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010165;response to X-ray;IBA|GO:0010259;multicellular organism aging;IEA|GO:0010332;response to gamma radiation;IBA|GO:0010481;epidermal cell division;IEA|GO:0010482;regulation of epidermal cell division;ISS|GO:0010838;positive regulation of keratinocyte proliferation;IEA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030850;prostate gland development;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0030859;polarized epithelial cell differentiation;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031571;mitotic G1 DNA damage checkpoint;IBA|GO:0032502;developmental process;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0034644;cellular response to UV;IBA|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IBA|GO:0043281;regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043523;regulation of neuron apoptotic process;IBA|GO:0043589;skin morphogenesis;IEA|GO:0043616;keratinocyte proliferation;IEA|GO:0045617;negative regulation of keratinocyte differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0045747;positive regulation of Notch signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048485;sympathetic nervous system development;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0048807;female genitalia morphogenesis;IEA|GO:0051262;protein tetramerization;IEA|GO:0051289;protein homotetramerization;IPI|GO:0051402;neuron apoptotic process;IEA|GO:0060157;urinary bladder development;IEA|GO:0060197;cloacal septation;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;IEA|GO:0061436;establishment of skin barrier;ISS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904674;positive regulation of somatic stem cell population maintenance;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IDA|GO:2000381;negative regulation of mesoderm development;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0030425;dendrite;IBA|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA	GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003684;damaged DNA binding;IBA|GO:0003690;double-stranded DNA binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050699;WW domain binding;IPI|GO:0097371;MDM2/MDM4 family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TP63	https://www.uniprot.org/uniprot/Q9H3D4	https://hpo.jax.org/app/browse/search?q=TP63&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603273	http://www.informatics.jax.org/searchtool/Search.do?query=TP63&submit=Quick%0D%1465ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP63	rs4686525	0.653355	0	0	1	0	0	intronic	intronic	intronic	TP63	TP63	ENSG00000073282	Na	Na	Na	Na	Na	Na	Het;C>G	48;3|3	Hom;C>G	264;0|8
N	N	-	3	189690816	189690816	G	GA	indel	intronic	 	 	 	 	P3H2	P3h2																	rs561837037	0.330272	0.3206	0.3570	1	0	0	intronic	intronic	intronic	P3H2	LEPREL1	ENSG00000090530	Na	Na	Na	Na	Na	Na	Het;+A	349;17|23	Hom;+A	729;2|33
N	N	-	3	189692565	189692565	G	A	snp	intronic	 	 	 	 	P3H2	P3h2																	rs1985690	0.561302	0	0	1	0	0	intronic	intronic	intronic	P3H2	LEPREL1	ENSG00000090530	Na	Na	Na	Na	Na	Na	Het;G>A	908;27|39	Hom;G>A	1487;0|56
N	N	-	3	189702395	189702396	TA	T	indel	intronic	 	 	 	 	P3H2	P3h2																	rs11311050	0.765375	0	0.7997	1	0	0	intronic	intronic	intronic	P3H2	LEPREL1	ENSG00000090530	Na	Na	Na	Na	Na	Na	Het;-A	335;16|21	Hom;-A	1231;0|53
N	N	-	3	189705542	189705542	A	G	snp	intronic	 	 	 	 	P3H2	P3h2																	rs3114672	0.776158	0	0	1	0	0	intronic	intronic	intronic	P3H2	LEPREL1	ENSG00000090530	Na	Na	Na	Na	Na	Na	Het;A>G	371;21|14	Hom;A>G	1276;0|42
N	N	-	3	189712089	189712089	G	A	snp	intronic	 	 	 	 	P3H2	P3h2																	rs1719599	0.760982	0.6977	0.7847	1	0	0	intronic	intronic	intronic	P3H2	LEPREL1	ENSG00000090530	Na	Na	Na	Na	Na	Na	Het;G>A	329;23|17	Hom;G>A	1637;0|37
N	N	-	3	189712090	189712090	G	A	snp	intronic	 	 	 	 	P3H2	P3h2																	rs1719598	0.760982	0	0.7844	1	0	0	intronic	intronic	intronic	P3H2	LEPREL1	ENSG00000090530	Na	Na	Na	Na	Na	Na	Het;G>A	659;20|19	Hom;G>A	1637;0|37
N	N	-	3	189712094	189712094	A	AAAAC	indel	intronic	 	 	 	 	P3H2	P3h2																	rs139834656	0	0.4502	0.5066	1	0	0	intronic	intronic	intronic	P3H2	LEPREL1	ENSG00000090530	Na	Na	Na	Na	Na	Na	Het;+AAAC	234;12|8	Hom;+AAAC	986;0|23
N	N	-	3	189713205	189713205	T	C	snp	synonymous SNV	A507G	E169E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LEPREL1	 																	rs9821880	0.320887	0.2776	0.3353	1	0	0	exonic	exonic	exonic	P3H2	LEPREL1	ENSG00000090530	synonymous SNV	synonymous SNV	unknown	P3H2:NM_018192:exon2:c.A507G:p.E169E,	LEPREL1:uc011bsk.2:exon2:c.A507G:p.E169E,	UNKNOWN	Het;T>C	821;39|39	Hom;T>C	2523;0|90
N	N	-	3	189884801	189884801	C	T	snp	ncRNA_exonic	 	 	 	 	NMNAT1P3																		rs9831273	0.341653	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	P3H2-AS1(dist=22166),CLDN1(dist=138689)	LEPREL1(dist=44575),CLDN1(dist=138689)	ENSG00000238077	Na	Na	Na	Na	Na	Na	Het;C>T	221;4|12	Hom;C>T	870;0|24
N	N	-	3	191097908	191097908	C	T	snp	intronic	 	 	 	 	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs293812	0.644569	0.5801	0.5639	1	0	0	intronic	intronic	intronic	CCDC50	CCDC50	ENSG00000152492	Na	Na	Na	Na	Na	Na	Het;C>T	678;26|31	Hom;C>T	1061;0|36
N	N	-	3	191097966	191097966	T	C	snp	nonsynonymous SNV	T995C	M332T	hydrophobic,neutral	polar,hydrophilic,neutral	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs293813	0.644569	0.5726	0.5372	0.08	1	13	exonic	exonic	exonic	CCDC50	CCDC50	ENSG00000152492	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC50:NM_178335:exon7:c.T995C:p.M332T,CCDC50:NM_174908:exon6:c.T467C:p.M156T,	CCDC50:uc003fsv.3:exon7:c.T995C:p.M332T,CCDC50:uc003fsw.3:exon6:c.T467C:p.M156T,	UNKNOWN	Het;T>C	1701;82|82	Hom;T>C	4161;0|154
N	N	-	3	191098121	191098121	C	T	snp	intronic	 	 	 	 	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs293814	0.644569	0	0	1	0	0	intronic	intronic	intronic	CCDC50	CCDC50	ENSG00000152492	Na	Na	Na	Na	Na	Na	Het;C>T	946;44|41	Hom;C>T	2279;0|78
N	N	-	3	191098731	191098731	G	A	snp	intronic	 	 	 	 	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs211043	0.644569	0.5722	0.5636	1	0	0	intronic	intronic	intronic	CCDC50	CCDC50	ENSG00000152492	Na	Na	Na	Na	Na	Na	Het;G>A	995;64|48	Hom;G>A	3024;0|119
N	N	-	3	191100448	191100448	G	T	snp	intronic	 	 	 	 	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs383529	0.644569	0	0	1	0	0	intronic	intronic	intronic	CCDC50	CCDC50	ENSG00000152492	Na	Na	Na	Na	Na	Na	Het;G>T	66;1|3	Hom;G>T	123;0|4
N	N	-	3	191100561	191100561	C	A	snp	synonymous SNV	C1269A	S423S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs364519	0.644968	0.5724	0.5337	1	0	0	exonic	exonic	exonic	CCDC50	CCDC50	ENSG00000152492	synonymous SNV	synonymous SNV	unknown	CCDC50:NM_178335:exon10:c.C1269A:p.S423S,CCDC50:NM_174908:exon9:c.C741A:p.S247S,	CCDC50:uc003fsv.3:exon10:c.C1269A:p.S423S,CCDC50:uc003fsw.3:exon9:c.C741A:p.S247S,	UNKNOWN	Het;C>A	328;31|19	Hom;C>A	713;2|30
N	N	-	3	191179193	191179193	A	G	snp	nonsynonymous SNV	A242G	Q81R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	PYDC2		ENSG00000253548	pyrin domain containing 2	chr3:191178952-191179245		Cholesterol; Heart Rate; Body Mass Index; Body Weight; Echocardiography; Stroke; Pancreatic Neoplasms; Benzodiazepines			GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0042347;negative regulation of NF-kappaB import into nucleus;IMP|GO:0045087;innate immune response;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IMP|GO:0050728;negative regulation of inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PYDC2			https://www.ncbi.nlm.nih.gov/omim/?term=615701	http://www.informatics.jax.org/searchtool/Search.do?query=PYDC2&submit=Quick%0D%20029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYDC2	rs293833	0.629992	0.7544	0.6885	0.10	1	10	exonic	exonic	exonic	PYDC2	PYDC2	ENSG00000253548	nonsynonymous SNV	nonsynonymous SNV	unknown	PYDC2:NM_001083308:exon1:c.A242G:p.Q81R,	PYDC2:uc011bso.2:exon1:c.A242G:p.Q81R,	UNKNOWN	Het;A>G	1588;89|78	Hom;A>G	3834;0|142
N	N	-	3	191179303	191179303	C	T	snp	downstream	 	 	 	 	PYDC2		ENSG00000253548	pyrin domain containing 2	chr3:191178952-191179245		Cholesterol; Heart Rate; Body Mass Index; Body Weight; Echocardiography; Stroke; Pancreatic Neoplasms; Benzodiazepines			GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0042347;negative regulation of NF-kappaB import into nucleus;IMP|GO:0045087;innate immune response;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IMP|GO:0050728;negative regulation of inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PYDC2			https://www.ncbi.nlm.nih.gov/omim/?term=615701	http://www.informatics.jax.org/searchtool/Search.do?query=PYDC2&submit=Quick%0D%20029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYDC2	rs176823	0.629193	0	0	1	0	0	ncRNA_intronic	downstream	downstream	LINCR-0002	PYDC2	ENSG00000253548	Na	Na	Na	Na	Na	Na	Het;C>T	601;32|29	Hom;C>T	1105;2|41
N	N	-	3	192125768	192125768	A	G	snp	intronic	 	 	 	 	FGF12	Fgf12	ENSG00000114279	fibroblast growth factor 12	chr3:191857184-192485553	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Lipoproteins, VLDL; Diabetic Nephropathies; Uric Acid; serum metabolites; Tobacco Use Disorder; Cell Adhesion Molecules; Body Height; Parkinson Disease; Phosphatidylcholines; Carcinoid Tumor; Cleft Lip|Cleft Palate	Mice homozygous for a knock-out allele are viable, fertile, and do not exhibit any significant behavioral or neurological phenotypes.	Phase 0 - rapid depolarisation	GO:0003254;regulation of membrane depolarization;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007399;nervous system development;TAS|GO:0007507;heart development;TAS|GO:0008344;adult locomotory behavior;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0010765;positive regulation of sodium ion transport;IEA|GO:0050905;neuromuscular process;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;NAS|GO:0098908;regulation of neuronal action potential;IMP|GO:1902305;regulation of sodium ion transmembrane transport;ISS|GO:1905150;regulation of voltage-gated sodium channel activity;IMP|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS|GO:2001258;negative regulation of cation channel activity;IEA	GO:0005615;extracellular space;TAS|GO:0005634;nucleus;IDA	GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0017080;sodium channel regulator activity;ISS|GO:0044325;ion channel binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/FGF12	https://www.uniprot.org/uniprot/P61328	https://hpo.jax.org/app/browse/search?q=FGF12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601513	http://www.informatics.jax.org/searchtool/Search.do?query=FGF12&submit=Quick%0D%4448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF12	rs2249551	0.509585	0.4072	0.4218	1	0	0	intronic	intronic	intronic	FGF12	FGF12	ENSG00000114279	Na	Na	Na	Na	Na	Na	Het;A>G	294;10|11	Hom;A>G	760;0|27
N	N	-	3	192635348	192635348	C	G	snp	intronic	 	 	 	 	MB21D2	Mb21d2	ENSG00000180611	Mab-21 domain containing 2	chr3:192514604-192635950		Body Mass Index; Tobacco Use Disorder; Body Weight; Alcoholism; Waist Circumference	 				GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MB21D2				http://www.informatics.jax.org/searchtool/Search.do?query=MB21D2&submit=Quick%0D%14502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MB21D2	rs9819230	0.551318	0	0	1	0	0	intronic	intronic	intronic	MB21D2	MB21D2	ENSG00000180611	Na	Na	Na	Na	Na	Na	Het;C>G	103;6|4	Hom;C>G	314;0|10
N	N	-	3	193081866	193081866	T	A	snp	intronic	 	 	 	 	ATP13A5	Atp13a5	ENSG00000187527	ATPase 13A5	chr3:192992579-193096632		Triglycerides	Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5				http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5	rs4386441	0.663738	0.6536	0.6777	1	0	0	intronic	intronic	intronic	ATP13A5	ATP13A5	ENSG00000187527	Na	Na	Na	Na	Na	Na	Het;T>A	469;25|22	Hom;T>A	1145;2|45
N	N	-	3	193096529	193096529	C	T	snp	UTR5	-15G>A	 	 	 	ATP13A5	Atp13a5	ENSG00000187527	ATPase 13A5	chr3:192992579-193096632		Triglycerides	Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5				http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5	rs4687419	0.670327	0.6578	0.6822	1	0	0	upstream	upstream	UTR5	ATP13A5	ATP13A5	ENSG00000187527(ENST00000342358:c.-15G>A,ENST00000446087:c.-15G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	505;17|24	Hom;C>T	1664;0|63
N	N	-	3	193153562	193153562	T	C	snp	intronic	 	 	 	 	ATP13A4	Atp13a4	ENSG00000127249	ATPase 13A4	chr3:193119866-193310900		Pancreatic Neoplasms	 	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A4	https://www.uniprot.org/uniprot/Q4VNC1		https://www.ncbi.nlm.nih.gov/omim/?term=609556	http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A4&submit=Quick%0D%6015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A4	rs1996735	0.733826	0.7700	0.7570	1	0	0	intronic	intronic	intronic	ATP13A4	ATP13A4	ENSG00000127249	Na	Na	Na	Na	Na	Na	Het;T>C	764;49|39	Hom;T>C	1735;0|63
N	N	-	3	193160474	193160474	A	T	snp	intronic	 	 	 	 	ATP13A4	Atp13a4	ENSG00000127249	ATPase 13A4	chr3:193119866-193310900		Pancreatic Neoplasms	 	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A4	https://www.uniprot.org/uniprot/Q4VNC1		https://www.ncbi.nlm.nih.gov/omim/?term=609556	http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A4&submit=Quick%0D%6015ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A4	rs9849997	0.708466	0	0	1	0	0	intronic	intronic	intronic	ATP13A4	ATP13A4	ENSG00000127249	Na	Na	Na	Na	Na	Na	Het;A>T	202;2|7	Hom;A>T	364;0|12
N	N	-	3	193711182	193711182	G	A	snp	ncRNA_exonic	 	 	 	 	DPPA2P3																		rs6777021	0.432907	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	DPPA2P3	DPPA2P3	ENSG00000224403	Na	Na	Na	Na	Na	Na	Het;G>A	772;41|37	Hom;G>A	1855;2|69
N	N	-	3	193727853	193727853	G	A	snp	ncRNA_exonic	 	 	 	 	LINC02028																		rs74781922	0.158147	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC647323(dist=6405),HES1(dist=126078)	LOC647323(dist=6405),BC038368(dist=38856)	ENSG00000230102	Na	Na	Na	Na	Na	Na	Het;G>A	1485;87|75	Hom;G>A	4261;0|168
N	N	-	3	193727947	193727950	CAGG	C	indel	ncRNA_exonic	 	 	 	 	LINC02028																		rs377009818	0.369209	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC647323(dist=6499),HES1(dist=125981)	LOC647323(dist=6499),BC038368(dist=38759)	ENSG00000230102	Na	Na	Na	Na	Na	Na	Het;-AGG	2003;87|55	Hom;-AGG	6901;0|155
N	N	-	3	193728370	193728370	T	G	snp	ncRNA_intronic	 	 	 	 	LINC02028																		rs4687494	0.524561	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC647323(dist=6922),HES1(dist=125561)	LOC647323(dist=6922),BC038368(dist=38339)	ENSG00000230102	Na	Na	Na	Na	Na	Na	Het;T>G	1168;67|55	Hom;T>G	2273;0|87
N	N	-	3	193728484	193728484	G	C	snp	ncRNA_intronic	 	 	 	 	LINC02028																		rs4687495	0.173123	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC647323(dist=7036),HES1(dist=125447)	LOC647323(dist=7036),BC038368(dist=38225)	ENSG00000230102	Na	Na	Na	Na	Na	Na	Het;G>C	148;8|6	Hom;G>C	433;0|12
N	N	-	3	193965496	193965496	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101929337																		rs4603903	0.702875	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929337	HES1(dist=109095),LINC00887(dist=51928)	ENSG00000238097	Na	Na	Na	Na	Na	Na	Het;A>G	563;24|24	Hom;A>G	513;0|19
N	N	-	3	194020053	194020053	A	T	snp	ncRNA_exonic	 	 	 	 	LINC00887																		rs7630690	0.923522	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00887	LINC00887	ENSG00000214145	Na	Na	Na	Na	Na	Na	Het;A>T	2120;135|106	Hom;A>T	6070;0|215
N	N	-	3	194346822	194346822	G	A	snp	intronic	 	 	 	 	TMEM44	Tmem44	ENSG00000145014	transmembrane protein 44	chr3:194308402-194354418		Heart Rate	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM44	https://www.uniprot.org/uniprot/Q2T9K0			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM44&submit=Quick%0D%8687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM44	rs1572979	0.317492	0	0	1	0	0	intronic	intronic	intronic	TMEM44	TMEM44	ENSG00000145014	Na	Na	Na	Na	Na	Na	Het;G>A	244;6|9	Hom;G>A	241;0|7
N	N	-	3	194349027	194349027	A	G	snp	intronic	 	 	 	 	TMEM44	Tmem44	ENSG00000145014	transmembrane protein 44	chr3:194308402-194354418		Heart Rate	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM44	https://www.uniprot.org/uniprot/Q2T9K0			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM44&submit=Quick%0D%8687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM44	rs1318216	0.626997	0	0	1	0	0	intronic	intronic	intronic	TMEM44	TMEM44	ENSG00000145014	Na	Na	Na	Na	Na	Na	Het;A>G	425;12|17	Hom;A>G	1116;3|35
N	N	-	3	194349178	194349178	C	T	snp	synonymous SNV	G198A	A66A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM44	Tmem44	ENSG00000145014	transmembrane protein 44	chr3:194308402-194354418		Heart Rate	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM44	https://www.uniprot.org/uniprot/Q2T9K0			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM44&submit=Quick%0D%8687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM44	rs1563970	0.345847	0.3098	0.3713	1	0	0	exonic	exonic	exonic	TMEM44	TMEM44	ENSG00000145014	synonymous SNV	synonymous SNV	unknown	TMEM44:NM_001166306:exon2:c.G198A:p.A66A,TMEM44:NM_138399:exon2:c.G198A:p.A66A,TMEM44:NM_001011655:exon2:c.G198A:p.A66A,TMEM44:NM_001166305:exon2:c.G198A:p.A66A,	TMEM44:uc003fuf.3:exon2:c.G198A:p.A66A,TMEM44:uc003fue.3:exon2:c.G198A:p.A66A,TMEM44:uc010hzn.3:exon2:c.G198A:p.A66A,TMEM44:uc011bsv.2:exon2:c.G198A:p.A66A,	UNKNOWN	Het;C>T	1017;66|52	Hom;C>T	2691;3|102
N	N	-	3	194353772	194353772	C	CCCGCCCGACAG	indel	ncRNA_exonic	 	 	 	 	AC046143.1																		rs11273892	0.714457	0.7070	0.7153	1	0	0	intronic	intronic	ncRNA_exonic	TMEM44	TMEM44	ENSG00000229334	Na	Na	Na	Na	Na	Na	Het;+CCGCCCGACAG	544;16|14	Hom;+CCGCCCGACAG	845;0|18
N	N	-	3	194653036	194653036	G	A	snp	intergenic	 	 	 	 	AC090505.2																		rs6437436	0.796725	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100507391(dist=150139),XXYLT1(dist=135977)	LOC100507391(dist=150139),XXYLT1(dist=135977)	ENSG00000238031(dist=99715),ENSG00000173950(dist=135972)	Na	Na	Na	Na	Na	Na	Het;G>A	113;1|4	Hom;G>A	652;0|20
N	N	-	3	195242593	195242593	T	G	snp	UTR3	*1101A>C	 	 	 	PPP1R2	Ppp1r2	ENSG00000184203	protein phosphatase 1 regulatory inhibitor subunit 2	chr3:195241221-195270209	Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		Homozygous null mice die during organogenesis. Heterozygous null mice display responses in behavioral assays suggesting enhanced memory retention.		GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0009966;regulation of signal transduction;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043666;regulation of phosphoprotein phosphatase activity;IBA	GO:0000164;protein phosphatase type 1 complex;IBA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0004865;protein serine/threonine phosphatase inhibitor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R2			https://www.ncbi.nlm.nih.gov/omim/?term=601792	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R2&submit=Quick%0D%15152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R2	rs1136	0.314896	0	0	1	0	0	UTR3	UTR3	UTR3	PPP1R2(NM_001291504:c.*1101A>C,NM_001291505:c.*1101A>C,NM_006241:c.*1101A>C)	PPP1R2(uc003fup.3:c.*1101A>C)	ENSG00000184203(ENST00000328432:c.*1101A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	1263;45|54	Hom;T>G	3706;0|125
N	N	-	3	195270012	195270012	A	G	snp	UTR5	-164T>C	 	 	 	PPP1R2	Ppp1r2	ENSG00000184203	protein phosphatase 1 regulatory inhibitor subunit 2	chr3:195241221-195270209	Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		Homozygous null mice die during organogenesis. Heterozygous null mice display responses in behavioral assays suggesting enhanced memory retention.		GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0009966;regulation of signal transduction;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043666;regulation of phosphoprotein phosphatase activity;IBA	GO:0000164;protein phosphatase type 1 complex;IBA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0004865;protein serine/threonine phosphatase inhibitor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R2			https://www.ncbi.nlm.nih.gov/omim/?term=601792	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R2&submit=Quick%0D%15152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R2	rs11475	0.319289	0	0	1	0	0	UTR5	UTR5	UTR5	PPP1R2(NM_001291504:c.-164T>C,NM_001291505:c.-164T>C,NM_006241:c.-164T>C)	PPP1R2(uc003fup.3:c.-164T>C,uc003fuq.4:c.-164T>C)	ENSG00000184203(ENST00000328432:c.-164T>C,ENST00000438848:c.-164T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1033;92|54	Hom;A>G	2913;1|107
N	N	-	3	195270078	195270078	C	G	snp	UTR5	-230G>C	 	 	 	PPP1R2	Ppp1r2	ENSG00000184203	protein phosphatase 1 regulatory inhibitor subunit 2	chr3:195241221-195270209	Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]		Homozygous null mice die during organogenesis. Heterozygous null mice display responses in behavioral assays suggesting enhanced memory retention.		GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0009966;regulation of signal transduction;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043666;regulation of phosphoprotein phosphatase activity;IBA	GO:0000164;protein phosphatase type 1 complex;IBA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0004865;protein serine/threonine phosphatase inhibitor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R2			https://www.ncbi.nlm.nih.gov/omim/?term=601792	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R2&submit=Quick%0D%15152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R2	rs823518	0.859425	0	0	1	0	0	UTR5	UTR5	UTR5	PPP1R2(NM_001291504:c.-230G>C,NM_001291505:c.-230G>C,NM_006241:c.-230G>C)	PPP1R2(uc003fup.3:c.-230G>C,uc003fuq.4:c.-230G>C)	ENSG00000184203(ENST00000328432:c.-230G>C,ENST00000438848:c.-230G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	1100;124|62	Hom;C>G	4163;0|148
N	N	-	3	195479256	195479256	T	C	snp	synonymous SNV	A2097G	E699E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2258447	0.812101	0.8375	0.8813	1	0	0	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	synonymous SNV	synonymous SNV	unknown	MUC4:NM_004532:exon20:c.A2862G:p.E954E,MUC4:NM_138297:exon19:c.A2709G:p.E903E,MUC4:NM_018406:exon21:c.A15570G:p.E5190E,	MUC4:uc021xjm.1:exon20:c.A2097G:p.E699E,MUC4:uc010hzq.3:exon2:c.A141G:p.E47E,MUC4:uc003fvb.3:exon19:c.A2118G:p.E706E,MUC4:uc021xjg.1:exon20:c.A2010G:p.E670E,MUC4:uc021xjn.1:exon20:c.A2637G:p.E879E,MUC4:uc021xjj.1:exon21:c.A2262G:p.E754E,MUC4:uc021xjl.1:exon21:c.A2010G:p.E670E,MUC4:uc003fuz.3:exon16:c.A2364G:p.E788E,MUC4:uc003fve.3:exon19:c.A2118G:p.E706E,MUC4:uc003fvp.3:exon19:c.A2709G:p.E903E,MUC4:uc003fva.3:exon20:c.A2010G:p.E670E,MUC4:uc021xjk.1:exon21:c.A2793G:p.E931E,MUC4:uc021xji.1:exon21:c.A2262G:p.E754E,MUC4:uc021xjo.1:exon20:c.A2010G:p.E670E,MUC4:uc003fvo.3:exon20:c.A2862G:p.E954E,MUC4:uc021xjp.1:exon21:c.A15570G:p.E5190E,	UNKNOWN	Het;T>C	618;37|30	Hom;T>C	1435;0|55
N	N	-	3	195484244	195484244	G	A	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2550270	0.659345	0.7016	0.7522	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;G>A	423;26|19	Hom;G>A	903;0|30
N	N	-	3	195487737	195487737	A	G	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2246771	0.691294	0.7171	0.6921	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;A>G	251;11|13	Hom;A>G	681;0|26
N	N	-	3	195489067	195489067	C	G	snp	synonymous SNV	G930C	S310S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2246980	0.424321	0.3730	0.4927	1	0	0	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	synonymous SNV	synonymous SNV	unknown	MUC4:NM_004532:exon13:c.G1695C:p.S565S,MUC4:NM_138297:exon12:c.G1542C:p.S514S,MUC4:NM_018406:exon14:c.G14403C:p.S4801S,	MUC4:uc021xjm.1:exon13:c.G930C:p.S310S,MUC4:uc003fvb.3:exon12:c.G951C:p.S317S,MUC4:uc021xjg.1:exon13:c.G843C:p.S281S,MUC4:uc021xjn.1:exon13:c.G1470C:p.S490S,MUC4:uc021xjj.1:exon14:c.G1095C:p.S365S,MUC4:uc021xjl.1:exon14:c.G843C:p.S281S,MUC4:uc003fuz.3:exon9:c.G1197C:p.S399S,MUC4:uc003fve.3:exon12:c.G951C:p.S317S,MUC4:uc003fvp.3:exon12:c.G1542C:p.S514S,MUC4:uc003fva.3:exon13:c.G843C:p.S281S,MUC4:uc021xjk.1:exon14:c.G1626C:p.S542S,MUC4:uc021xji.1:exon14:c.G1095C:p.S365S,MUC4:uc021xjo.1:exon13:c.G843C:p.S281S,MUC4:uc003fvo.3:exon13:c.G1695C:p.S565S,MUC4:uc021xjp.1:exon14:c.G14403C:p.S4801S,	UNKNOWN	Het;C>G	82;22|6	Hom;C>G	774;0|32
N	N	-	3	195490144	195490144	C	A	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2550262	0.591454	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;C>A	77;5|5	Hom;C>A	226;0|9
N	N	-	3	195490284	195490284	T	C	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2550261	0.660942	0.7015	0.6936	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;T>C	333;17|16	Hom;T>C	898;0|28
N	N	-	3	195490838	195490841	ATCC	A	indel	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs560466806	0.317692	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;-TCC	183;4|6	Hom;-TCC	323;0|8
N	N	-	3	195490842	195490846	AGATG	A	indel	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs34858176	0.317692	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;-GATG	183;4|6	Hom;-GATG	323;0|8
N	N	-	3	195491107	195491138	TGAGAGCTTGGCAGGGCAGGGCGGTGTTGGTG	T	indel	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs139026839	0	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;-GAGAGCTTGGCAGGGCAGGGCGGTGTTGGTG	312;10|13	Hom;-GAGAGCTTGGCAGGGCAGGGCGGTGTTGGTG	539;0|15
N	N	-	3	195495916	195495916	G	C	snp	nonsynonymous SNV	C798G	N266K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2550240	0.428714	0.3588	0.4455	0.38	5	13	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_004532:exon6:c.C798G:p.N266K,MUC4:NM_138297:exon5:c.C645G:p.N215K,MUC4:NM_018406:exon7:c.C13506G:p.N4502K,	MUC4:uc021xjm.1:exon6:c.C33G:p.N11K,MUC4:uc003fvb.3:exon6:c.C143G:p.T48S,MUC4:uc021xjn.1:exon6:c.C573G:p.N191K,MUC4:uc021xjj.1:exon7:c.C198G:p.N66K,MUC4:uc003fuz.3:exon3:c.C389G:p.T130S,MUC4:uc003fve.3:exon6:c.C143G:p.T48S,MUC4:uc003fvp.3:exon5:c.C645G:p.N215K,MUC4:uc021xjk.1:exon7:c.C729G:p.N243K,MUC4:uc021xji.1:exon7:c.C198G:p.N66K,MUC4:uc003fvo.3:exon6:c.C798G:p.N266K,MUC4:uc021xjp.1:exon7:c.C13506G:p.N4502K,	UNKNOWN	Het;G>C	815;39|39	Hom;G>C	2120;0|75
N	N	-	3	195497174	195497174	C	G	snp	nonsynonymous SNV	G603C	M201I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2259102	0.828275	0.8714	0.7996	0.08	1	13	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_004532:exon5:c.G603C:p.M201I,MUC4:NM_138297:exon4:c.G450C:p.M150I,MUC4:NM_018406:exon6:c.G13311C:p.M4437I,	MUC4:uc021xjj.1:exon6:c.G3C:p.M1I,MUC4:uc003fvp.3:exon4:c.G450C:p.M150I,MUC4:uc021xjk.1:exon6:c.G534C:p.M178I,MUC4:uc021xji.1:exon6:c.G3C:p.M1I,MUC4:uc003fvo.3:exon5:c.G603C:p.M201I,MUC4:uc021xjp.1:exon6:c.G13311C:p.M4437I,	UNKNOWN	Het;C>G	369;28|23	Hom;C>G	2454;0|88
N	N	-	3	195498859	195498859	T	A	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2641779	0.82508	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;T>A	31;2|2	Hom;T>A	228;0|8
N	N	-	3	195505072	195505072	C	T	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2550252	0.261781	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;C>T	277;20|9	Hom;C>T	861;0|20
N	N	-	3	195505091	195505091	G	A	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2688512	0.677316	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;G>A	406;35|16	Hom;G>A	1162;0|29
N	N	-	3	195505417	195505417	G	A	snp	intronic	 	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2259419	0.504393	0	0	1	0	0	intronic	intronic	intronic	MUC4	MUC4	ENSG00000145113	Na	Na	Na	Na	Na	Na	Het;G>A	223;19|11	Hom;G>A	999;0|34
N	N	-	3	195505664	195505664	G	A	snp	nonsynonymous SNV	C12787T	P4263S	hydrophobic,neutral	polar,hydrophilic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2688513	0.789537	0.8743	0.8052	0.08	1	12	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.C12787T:p.P4263S,	MUC4:uc021xjn.1:exon2:c.C10T:p.P4S,MUC4:uc021xjk.1:exon2:c.C10T:p.P4S,MUC4:uc021xjp.1:exon2:c.C12787T:p.P4263S,	UNKNOWN	Het;G>A	943;35|44	Hom;G>A	2094;0|78
N	N	-	3	195505788	195505788	G	C	snp	nonsynonymous SNV	C12663G	H4221Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2550253	0.143371	0	0.3368	0.08	1	12	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.C12663G:p.H4221Q,	MUC4:uc021xjp.1:exon2:c.C12663G:p.H4221Q,	UNKNOWN	Het;G>C	514;12|19	Hom;G>C	1053;0|35
N	N	-	3	195587257	195587257	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01983																		rs6583249	0.29373	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MUC4(dist=48413),TNK2(dist=2979)	MUC4(dist=48413),TNK2(dist=2979)	ENSG00000223783	Na	Na	Na	Na	Na	Na	Het;G>A	2058;106|99	Hom;G>A	4792;2|186
N	N	-	3	195612034	195612034	T	C	snp	UTR5	-1908A>G	 	 	 	TNK2	Tnk2	ENSG00000061938	tyrosine kinase non receptor 2	chr3:195590235-195638816	This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	 		GO:0006468;protein phosphorylation;IEA|GO:0006897;endocytosis;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0016310;phosphorylation;IDA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0034260;negative regulation of GTPase activity;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:2000369;regulation of clathrin-dependent endocytosis;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IDA|GO:0005905;clathrin-coated pit;IDA|GO:0005912;adherens junction;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070436;Grb2-EGFR complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050699;WW domain binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TNK2	https://www.uniprot.org/uniprot/Q07912		https://www.ncbi.nlm.nih.gov/omim/?term=606994	http://www.informatics.jax.org/searchtool/Search.do?query=TNK2&submit=Quick%0D%1081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNK2	rs3747672	0.597045	0	0	1	0	0	intronic	UTR5	intronic	TNK2	TNK2(uc003fvv.1:c.-1908A>G)	ENSG00000061938	Na	Na	Na	Na	Na	Na	Het;T>C	107;2|4	Hom;T>C	295;0|9
N	N	-	3	195615376	195615376	A	G	snp	synonymous SNV	T180C	D60D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TNK2	Tnk2	ENSG00000061938	tyrosine kinase non receptor 2	chr3:195590235-195638816	This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	 		GO:0006468;protein phosphorylation;IEA|GO:0006897;endocytosis;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0016310;phosphorylation;IDA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0034260;negative regulation of GTPase activity;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:2000369;regulation of clathrin-dependent endocytosis;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IDA|GO:0005905;clathrin-coated pit;IDA|GO:0005912;adherens junction;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070436;Grb2-EGFR complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050699;WW domain binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TNK2	https://www.uniprot.org/uniprot/Q07912		https://www.ncbi.nlm.nih.gov/omim/?term=606994	http://www.informatics.jax.org/searchtool/Search.do?query=TNK2&submit=Quick%0D%1081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNK2	rs3747669	0.442692	0.3904	0.3383	1	0	0	exonic	exonic	exonic	TNK2	TNK2	ENSG00000061938	synonymous SNV	synonymous SNV	unknown	TNK2:NM_005781:exon2:c.T84C:p.D28D,TNK2:NM_001010938:exon2:c.T273C:p.D91D,	TNK2:uc003fvs.1:exon2:c.T180C:p.D60D,TNK2:uc010hzx.1:exon2:c.T126C:p.D42D,TNK2:uc003fvt.1:exon2:c.T273C:p.D91D,TNK2:uc003fvu.1:exon2:c.T84C:p.D28D,	UNKNOWN	Het;A>G	855;52|46	Hom;A>G	3002;0|115
N	N	-	3	195871183	195871183	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00885																		rs4927885	0.805312	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00885	LINC00885	ENSG00000224652	Na	Na	Na	Na	Na	Na	Het;C>T	1447;75|72	Hom;C>T	4002;0|145
N	N	-	3	195924203	195924203	A	G	snp	downstream	 	 	 	 	ZDHHC19	Zdhhc19	ENSG00000163958	zinc finger DHHC-type containing 19	chr3:195924320-195938308		HIV-1	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC19				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC19&submit=Quick%0D%11146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC19	rs7626680	0.534145	0	0	1	0	0	downstream	downstream	downstream	ZDHHC19	ZDHHC19	ENSG00000163958	Na	Na	Na	Na	Na	Na	Het;A>G	69;4|4	Hom;A>G	91;0|4
N	N	-	3	195925355	195925355	C	T	snp	UTR3	*31G>A	 	 	 	ZDHHC19	Zdhhc19	ENSG00000163958	zinc finger DHHC-type containing 19	chr3:195924320-195938308		HIV-1	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC19				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC19&submit=Quick%0D%11146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC19	rs1106479	0.265775	0.1319	0.2376	1	0	0	intronic	intronic	UTR3	ZDHHC19	ZDHHC19	ENSG00000163958(ENST00000397544:c.*31G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	977;65|50	Hom;C>T	2280;4|87
N	N	-	3	195926234	195926234	T	C	snp	UTR3	*157A>G	 	 	 	ZDHHC19	Zdhhc19	ENSG00000163958	zinc finger DHHC-type containing 19	chr3:195924320-195938308		HIV-1	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC19				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC19&submit=Quick%0D%11146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC19	rs939892	0.924521	0	0	1	0	0	intronic	intronic	UTR3	ZDHHC19	ZDHHC19	ENSG00000163958(ENST00000438232:c.*157A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	468;13|22	Hom;T>C	471;0|18
N	N	-	3	195936446	195936446	C	T	snp	intronic	 	 	 	 	ZDHHC19	Zdhhc19	ENSG00000163958	zinc finger DHHC-type containing 19	chr3:195924320-195938308		HIV-1	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC19				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC19&submit=Quick%0D%11146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC19	rs4916502	0.569089	0	0	1	0	0	intronic	intronic	intronic	ZDHHC19	ZDHHC19	ENSG00000163958	Na	Na	Na	Na	Na	Na	Het;C>T	363;24|19	Hom;C>T	1124;0|42
N	N	-	3	195937678	195937678	G	A	snp	intronic	 	 	 	 	ZDHHC19	Zdhhc19	ENSG00000163958	zinc finger DHHC-type containing 19	chr3:195924320-195938308		HIV-1	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC19				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC19&submit=Quick%0D%11146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC19	rs12718059	0.560503	0	0	1	0	0	intronic	intronic	intronic	ZDHHC19	ZDHHC19	ENSG00000163958	Na	Na	Na	Na	Na	Na	Het;G>A	547;13|23	Hom;G>A	1126;0|42
N	N	-	3	196002355	196002355	T	C	snp	intronic	 	 	 	 	PCYT1A	Pcyt1a	ENSG00000161217	phosphate cytidylyltransferase 1, choline, alpha	chr3:195941093-196014828	This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]	orofacial clefts; Cleft Lip|Cleft Palate; neural tube defects	Embryos homozygous for a targeted null mutation fail to form blastocysts, do not develop past E3.5, and fail to implant.	Synthesis of PC	GO:0006629;lipid metabolic process;IEA|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;IEA|GO:0006952;defense response;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009058;biosynthetic process;IEA	GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0042587;glycogen granule;IEA	GO:0003824;catalytic activity;IEA|GO:0004105;choline-phosphate cytidylyltransferase activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0008289;lipid binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031210;phosphatidylcholine binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCYT1A		https://hpo.jax.org/app/browse/search?q=PCYT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=123695	http://www.informatics.jax.org/searchtool/Search.do?query=PCYT1A&submit=Quick%0D%10565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCYT1A	rs2173600	0.868211	0	0	1	0	0	intronic	intronic	intronic	PCYT1A	PCYT1A	ENSG00000161217,ENSG00000272741	Na	Na	Na	Na	Na	Na	Het;T>C	44;5|4	Hom;T>C	71;0|4
N	N	-	3	196022750	196022750	T	C	snp	intronic	 	 	 	 	TCTEX1D2	Tctex1d2	ENSG00000213123	Tctex1 domain containing 2	chr3:196018090-196045170		SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY	 	Intraflagellar transport	GO:0060271;cilium assembly;IMP|GO:1902017;regulation of cilium assembly;IMP|GO:1905799;regulation of intraciliary retrograde transport;IMP	GO:0000922;spindle pole;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005930;axoneme;IDA|GO:0031021;interphase microtubule organizing center;IDA|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045505;dynein intermediate chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TCTEX1D2		https://hpo.jax.org/app/browse/search?q=TCTEX1D2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617353	http://www.informatics.jax.org/searchtool/Search.do?query=TCTEX1D2&submit=Quick%0D%18089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTEX1D2	rs2293160	0.426917	0	0	1	0	0	intronic	intronic	intronic	TCTEX1D2	TCTEX1D2	ENSG00000213123,ENSG00000272741	Na	Na	Na	Na	Na	Na	Het;T>C	303;6|10	Hom;T>C	213;0|6
N	N	-	3	196044894	196044894	G	C	snp	ncRNA_intronic	 	 	 	 	TM4SF19-TCTEX1D2																		rs2270769	0.40635	0.2571	0.4445	1	0	0	ncRNA_intronic	intronic	intronic	TM4SF19-TCTEX1D2	TCTEX1D2	ENSG00000213123,ENSG00000272741,ENSG00000273331	Na	Na	Na	Na	Na	Na	Het;G>C	457;19|21	Hom;G>C	977;0|37
N	N	-	3	196051403	196051403	A	G	snp	ncRNA_exonic	 	 	 	 	TM4SF19-AS1																		rs2280526	0.631789	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	TM4SF19-AS1	AK124973(uc003fwk.1:c.*362A>G)	ENSG00000235897	Na	Na	Na	Na	Na	Na	Het;A>G	3229;108|144	Hom;A>G	7044;9|253
N	N	-	3	196054439	196054439	T	G	snp	nonsynonymous SNV	A23C	Q8P	polar,hydrophilic,neutral	hydrophobic,neutral	TM4SF19	Tm4sf19	ENSG00000145107	transmembrane 4 L six family member 19	chr3:196046213-196065374			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TM4SF19	https://www.uniprot.org/uniprot/Q96DZ7			http://www.informatics.jax.org/searchtool/Search.do?query=TM4SF19&submit=Quick%0D%8699ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TM4SF19	rs6785339	0.630791	0.5436	0.6194	0.23	3	13	exonic	exonic	exonic	TM4SF19	TM4SF19,TM4SF19-TCTEX1D2	ENSG00000145107,ENSG00000273331	nonsynonymous SNV	nonsynonymous SNV	unknown	TM4SF19:NM_001204898:exon2:c.A23C:p.Q8P,TM4SF19:NM_138461:exon2:c.A23C:p.Q8P,TM4SF19:NM_001204897:exon2:c.A23C:p.Q8P,	TM4SF19-TCTEX1D2:uc010iad.2:exon2:c.A23C:p.Q8P,TM4SF19:uc003fwl.2:exon2:c.A23C:p.Q8P,TM4SF19:uc011btv.2:exon2:c.A23C:p.Q8P,TM4SF19:uc021xjs.1:exon2:c.A23C:p.Q8P,	UNKNOWN	Het;T>G	698;36|34	Hom;T>G	2012;0|73
N	N	-	3	196054488	196054488	A	G	snp	ncRNA_intronic	 	 	 	 	TM4SF19-TCTEX1D2																		rs6782336	0.63119	0.5414	0.6205	1	0	0	ncRNA_intronic	intronic	intronic	TM4SF19-TCTEX1D2	TM4SF19,TM4SF19-TCTEX1D2	ENSG00000145107,ENSG00000273331	Na	Na	Na	Na	Na	Na	Het;A>G	265;18|14	Hom;A>G	889;0|31
N	N	-	3	196359310	196359310	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01063																		rs1684466	0.587061	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FBXO45(dist=43380),NRROS(dist=7257)	FBXO45(dist=43380),LRRC33(dist=7346)	ENSG00000232065	Na	Na	Na	Na	Na	Na	Het;G>A	153;9|9	Hom;G>A	447;0|16
N	N	-	3	196556843	196556843	G	A	snp	UTR3	*1567G>A	 	 	 	PAK2	Pak2	ENSG00000180370	p21 (RAC1) activated kinase 2	chr3:196466728-196559518	The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]	HIV; Alzheimer Disease; Schizophrenia	Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006469;negative regulation of protein kinase activity;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0008152;metabolic process;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IDA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0031295;T cell costimulation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0060996;dendritic spine development;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001271;negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0031267;small GTPase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0048365;Rac GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PAK2			https://www.ncbi.nlm.nih.gov/omim/?term=605022	http://www.informatics.jax.org/searchtool/Search.do?query=PAK2&submit=Quick%0D%14471ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK2	rs9109	0.604233	0	0	1	0	0	UTR3	UTR3	UTR3	PAK2(NM_002577:c.*1567G>A)	PAK2(uc003fwy.4:c.*1567G>A)	ENSG00000180370(ENST00000327134:c.*1567G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	666;18|31	Hom;G>A	1216;0|43
N	N	-	3	196583207	196583207	T	C	snp	intergenic	 	 	 	 	PAK2	Pak2	ENSG00000180370	p21 (RAC1) activated kinase 2	chr3:196466728-196559518	The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]	HIV; Alzheimer Disease; Schizophrenia	Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006469;negative regulation of protein kinase activity;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0008152;metabolic process;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IDA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0031295;T cell costimulation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0060996;dendritic spine development;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001271;negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0031267;small GTPase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0048365;Rac GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PAK2			https://www.ncbi.nlm.nih.gov/omim/?term=605022	http://www.informatics.jax.org/searchtool/Search.do?query=PAK2&submit=Quick%0D%14471ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK2	rs4916446	0.750399	0	0	1	0	0	intergenic	intergenic	intergenic	PAK2(dist=23689),SENP5(dist=11520)	PAK2(dist=23689),SENP5(dist=11520)	ENSG00000180370(dist=23689),ENSG00000119231(dist=11520)	Na	Na	Na	Na	Na	Na	Het;T>C	286;26|14	Hom;T>C	1570;0|57
N	N	-	3	196657670	196657671	CT	C	indel	intronic	 	 	 	 	SENP5	Senp5	ENSG00000119231	SUMO1/sentrin specific peptidase 5	chr3:196594727-196661585	The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]		 	SUMO is proteolytically processed	GO:0006508;proteolysis;IEA|GO:0007049;cell cycle;IEA|GO:0016925;protein sumoylation;TAS|GO:0016926;protein desumoylation;IBA|GO:0051301;cell division;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA	GO:0004175;endopeptidase activity;IBA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016929;SUMO-specific protease activity;IBA|GO:0070139;SUMO-specific endopeptidase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/SENP5	https://www.uniprot.org/uniprot/Q96HI0		https://www.ncbi.nlm.nih.gov/omim/?term=612845	http://www.informatics.jax.org/searchtool/Search.do?query=SENP5&submit=Quick%0D%5041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SENP5	rs63736860	0.834864	0	0.7760	1	0	0	intronic	intronic	intronic	SENP5	SENP5	ENSG00000119231	Na	Na	Na	Na	Na	Na	Het;-T	1474;53|77	Hom;-T	3384;0|134
N	N	-	3	196666059	196666059	A	G	snp	UTR3	*20T>C	 	 	 	NCBP2	Ncbp2	ENSG00000114503	nuclear cap binding protein subunit 2	chr3:196662273-196669468	The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006408;snRNA export from nucleus;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IDA|GO:0006810;transport;IEA|GO:0008334;histone mRNA metabolic process;TAS|GO:0008380;RNA splicing;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016070;RNA metabolic process;TAS|GO:0031047;gene silencing by RNA;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0031442;positive regulation of mRNA 3'-end processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045292;mRNA cis splicing, via spliceosome;IEA|GO:0046833;positive regulation of RNA export from nucleus;ISS|GO:0051028;mRNA transport;IEA|GO:0051168;nuclear export;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005845;mRNA cap binding complex;IDA|GO:0005846;nuclear cap binding complex;IEA|GO:0034518;RNA cap binding complex;IMP	GO:0000339;RNA cap binding;IEA|GO:0000340;RNA 7-methylguanosine cap binding;IMP|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017069;snRNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NCBP2	https://www.uniprot.org/uniprot/P52298		https://www.ncbi.nlm.nih.gov/omim/?term=605133	http://www.informatics.jax.org/searchtool/Search.do?query=NCBP2&submit=Quick%0D%4473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCBP2	rs553783	0.803514	0	0.7635	1	0	0	intronic	UTR3	intronic	NCBP2	NCBP2(uc003fxf.3:c.*20T>C)	ENSG00000114503	Na	Na	Na	Na	Na	Na	Het;A>G	382;9|13	Hom;A>G	688;0|21
N	N	-	3	196669488	196669488	C	CA	indel	upstream;downstream	 	 	 	 	NCBP2	Ncbp2	ENSG00000114503	nuclear cap binding protein subunit 2	chr3:196662273-196669468	The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006408;snRNA export from nucleus;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IDA|GO:0006810;transport;IEA|GO:0008334;histone mRNA metabolic process;TAS|GO:0008380;RNA splicing;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016070;RNA metabolic process;TAS|GO:0031047;gene silencing by RNA;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0031442;positive regulation of mRNA 3'-end processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045292;mRNA cis splicing, via spliceosome;IEA|GO:0046833;positive regulation of RNA export from nucleus;ISS|GO:0051028;mRNA transport;IEA|GO:0051168;nuclear export;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005845;mRNA cap binding complex;IDA|GO:0005846;nuclear cap binding complex;IEA|GO:0034518;RNA cap binding complex;IMP	GO:0000339;RNA cap binding;IEA|GO:0000340;RNA 7-methylguanosine cap binding;IMP|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017069;snRNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NCBP2	https://www.uniprot.org/uniprot/P52298		https://www.ncbi.nlm.nih.gov/omim/?term=605133	http://www.informatics.jax.org/searchtool/Search.do?query=NCBP2&submit=Quick%0D%4473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCBP2	rs3214858	0.584465	0	0	1	0	0	upstream	upstream	upstream;downstream	NCBP2,NCBP2-AS2	NCBP2,NCBP2-AS2	ENSG00000114503,ENSG00000270170;ENSG00000225578	Na	Na	Na	Na	Na	Na	Het;+A	668;14|20	Hom;+A	2460;0|61
N	N	-	3	196670092	196670092	C	A	snp	ncRNA_exonic	 	 	 	 	NCBP2-AS2		ENSG00000270170	NCBP2 antisense RNA 2 (head to head)	chr3:196669494-196670411								http://www.genecards.org/index.php?path=/Search/keyword/NCBP2-AS2				http://www.informatics.jax.org/searchtool/Search.do?query=NCBP2-AS2&submit=Quick%0D%20796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCBP2-AS2	rs1054278	0.83726	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	NCBP2-AS2	NCBP2-AS2(uc003fxg.3:c.*205C>A)	ENSG00000270170	Na	Na	Na	Na	Na	Na	Het;C>A	1693;37|44	Hom;C>A	2897;0|65
N	N	-	3	196670094	196670094	G	GAC	indel	ncRNA_exonic	 	 	 	 	NCBP2-AS2		ENSG00000270170	NCBP2 antisense RNA 2 (head to head)	chr3:196669494-196670411								http://www.genecards.org/index.php?path=/Search/keyword/NCBP2-AS2				http://www.informatics.jax.org/searchtool/Search.do?query=NCBP2-AS2&submit=Quick%0D%20796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCBP2-AS2	rs61378737	0.829673	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	NCBP2-AS2	NCBP2-AS2(uc003fxg.3:c.*207G>GAC)	ENSG00000270170	Na	Na	Na	Na	Na	Na	Het;+AC	1776;42|44	Hom;+AC	2896;0|65
N	N	-	3	197477197	197477197	A	C	snp	UTR5	-6198A>C	 	 	 	FYTTD1	Fyttd1	ENSG00000122068	forty-two-three domain containing 1	chr3:197464050-197514467			 	mRNA 3'-end processing	GO:0006406;mRNA export from nucleus;IEA|GO:0006810;transport;IEA|GO:0051028;mRNA transport;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IDA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FYTTD1	https://www.uniprot.org/uniprot/Q96QD9		https://www.ncbi.nlm.nih.gov/omim/?term=616933	http://www.informatics.jax.org/searchtool/Search.do?query=FYTTD1&submit=Quick%0D%5380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FYTTD1	rs6806100	0.746406	0	0	1	0	0	intronic	intronic	UTR5	FYTTD1	FYTTD1	ENSG00000122068(ENST00000426031:c.-6198A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	307;7|10	Hom;A>C	414;0|13
N	N	-	3	197495334	197495334	G	A	snp	nonsynonymous SNV	G260A	R87H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	FYTTD1	Fyttd1	ENSG00000122068	forty-two-three domain containing 1	chr3:197464050-197514467			 	mRNA 3'-end processing	GO:0006406;mRNA export from nucleus;IEA|GO:0006810;transport;IEA|GO:0051028;mRNA transport;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IDA	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FYTTD1	https://www.uniprot.org/uniprot/Q96QD9		https://www.ncbi.nlm.nih.gov/omim/?term=616933	http://www.informatics.jax.org/searchtool/Search.do?query=FYTTD1&submit=Quick%0D%5380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FYTTD1	rs3205525	0.751997	0.7151	0.8182	0.23	3	13	exonic	exonic	exonic	FYTTD1	FYTTD1	ENSG00000122068	nonsynonymous SNV	nonsynonymous SNV	unknown	FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H,	FYTTD1:uc011bui.1:exon4:c.G182A:p.R61H,FYTTD1:uc003fyi.2:exon3:c.G260A:p.R87H,FYTTD1:uc011buk.1:exon3:c.G59A:p.R20H,	UNKNOWN	Het;G>A	785;72|43	Hom;G>A	3239;0|122
N	N	-	3	197557635	197557635	C	T	snp	ncRNA_exonic	 	 	 	 	AC055764.1																		rs501101	0.763978	0.7270	0.8064	1	0	0	intronic	intronic	ncRNA_exonic	LRCH3	LRCH3	ENSG00000234136	Na	Na	Na	Na	Na	Na	Het;C>T	913;32|44	Hom;C>T	1709;0|65
N	N	-	3	197566254	197566254	T	C	snp	synonymous SNV	T1314C	Y438Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	LRCH3	Lrch3	ENSG00000186001	leucine rich repeats and calponin homology domain containing 3	chr3:197518097-197615307			 		GO:0007165;signal transduction;IBA	GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRCH3				http://www.informatics.jax.org/searchtool/Search.do?query=LRCH3&submit=Quick%0D%15545ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRCH3	rs17850206	0.318291	0.3193	0.3648	1	0	0	exonic	exonic	exonic	LRCH3	LRCH3	ENSG00000186001	synonymous SNV	synonymous SNV	unknown	LRCH3:NM_032773:exon10:c.T1314C:p.Y438Y,	LRCH3:uc011bul.1:exon10:c.T1314C:p.Y438Y,LRCH3:uc011bun.1:exon7:c.T852C:p.Y284Y,LRCH3:uc003fyj.1:exon10:c.T1314C:p.Y438Y,LRCH3:uc003fyk.2:exon5:c.T99C:p.Y33Y,LRCH3:uc011bum.1:exon10:c.T1230C:p.Y410Y,	UNKNOWN	Het;T>C	483;36|24	Hom;T>C	1129;0|44
N	N	-	3	19924372	19924372	A	AC	indel	intronic	 	 	 	 	EFHB	Efhb	ENSG00000163576	EF-hand domain family member B	chr3:19920964-19988517		Tobacco Use Disorder	 				GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFHB				http://www.informatics.jax.org/searchtool/Search.do?query=EFHB&submit=Quick%0D%11013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHB	rs58853219	0.396166	0	0	1	0	0	intronic	intronic	intronic	EFHB	EFHB	ENSG00000163576	Na	Na	Na	Na	Na	Na	Het;+C	130;5|5	Hom;+C	113;0|4
N	N	-	3	19930130	19930130	A	T	snp	nonsynonymous SNV	T1739A	M580K	hydrophobic,neutral	polar,hydrophilic,charged(+)	EFHB	Efhb	ENSG00000163576	EF-hand domain family member B	chr3:19920964-19988517		Tobacco Use Disorder	 				GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFHB				http://www.informatics.jax.org/searchtool/Search.do?query=EFHB&submit=Quick%0D%11013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHB	rs76305623	0.119808	0.1166	0.1609	0.08	1	13	exonic	exonic	exonic	EFHB	EFHB	ENSG00000163576	nonsynonymous SNV	nonsynonymous SNV	unknown	EFHB:NM_144715:exon10:c.T1739A:p.M580K,	EFHB:uc003cbl.4:exon10:c.T1739A:p.M580K,EFHB:uc003cbm.3:exon12:c.T1349A:p.M450K,	UNKNOWN	Het;A>T	464;31|23	Hom;A>T	1642;0|60
N	N	-	3	19940877	19940877	A	G	snp	intronic	 	 	 	 	EFHB	Efhb	ENSG00000163576	EF-hand domain family member B	chr3:19920964-19988517		Tobacco Use Disorder	 				GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFHB				http://www.informatics.jax.org/searchtool/Search.do?query=EFHB&submit=Quick%0D%11013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHB	rs2931385	0.376398	0.4401	0.3893	1	0	0	intronic	intronic	intronic	EFHB	EFHB	ENSG00000163576	Na	Na	Na	Na	Na	Na	Het;A>G	422;10|15	Hom;A>G	1113;0|37
N	N	-	3	19941074	19941074	A	G	snp	intronic	 	 	 	 	EFHB	Efhb	ENSG00000163576	EF-hand domain family member B	chr3:19920964-19988517		Tobacco Use Disorder	 				GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFHB				http://www.informatics.jax.org/searchtool/Search.do?query=EFHB&submit=Quick%0D%11013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHB	rs2931386	0.376597	0	0	1	0	0	intronic	intronic	intronic	EFHB	EFHB	ENSG00000163576	Na	Na	Na	Na	Na	Na	Het;A>G	782;20|29	Hom;A>G	757;0|24
N	N	-	3	20424345	20424345	G	A	snp	intergenic	 	 	 	 	SGO1-AS1																		rs12054250	0.786542	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927829(dist=31925),VENTXP7(dist=1022873)	SGOL1-AS1(dist=196426),VENTXP7(dist=1022873)	ENSG00000231304(dist=31925),ENSG00000261734(dist=5396)	Na	Na	Na	Na	Na	Na	Het;G>A	92;2|3	Hom;G>A	107;0|3
N	N	-	3	20424346	20424346	A	C	snp	intergenic	 	 	 	 	SGO1-AS1																		rs13074150	0.829473	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927829(dist=31926),VENTXP7(dist=1022872)	SGOL1-AS1(dist=196427),VENTXP7(dist=1022872)	ENSG00000231304(dist=31926),ENSG00000261734(dist=5395)	Na	Na	Na	Na	Na	Na	Het;A>C	92;2|3	Hom;A>C	107;0|3
N	N	-	3	20424357	20424378	ACAGGAATTTTAGGGTTTATGT	A	indel	intergenic	 	 	 	 	SGO1-AS1																		rs111971582	0.786542	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927829(dist=31937),VENTXP7(dist=1022840)	SGOL1-AS1(dist=196438),VENTXP7(dist=1022840)	ENSG00000231304(dist=31937),ENSG00000261734(dist=5363)	Na	Na	Na	Na	Na	Na	Het;-CAGGAATTTTAGGGTTTATGT	83;2|3	Hom;-CAGGAATTTTAGGGTTTATGT	98;0|3
N	N	-	3	21447799	21447799	T	C	snp	nonsynonymous SNV	T193C	S65P	polar,hydrophilic,neutral	hydrophobic,neutral	VENTXP7																		rs430387	0.769968	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	VENTXP7	VENTXP7	ENSG00000236380	Na	nonsynonymous SNV	Na	Na	VENTXP7:uc003ccd.4:exon1:c.T193C:p.S65P,	Na	Het;T>C	399;37|21	Hom;T>C	1429;0|50
N	N	-	3	21447834	21447834	C	T	snp	synonymous SNV	C228T	S76S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	VENTXP7																		rs440905	0.769768	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	VENTXP7	VENTXP7	ENSG00000236380	Na	synonymous SNV	Na	Na	VENTXP7:uc003ccd.4:exon1:c.C228T:p.S76S,	Na	Het;C>T	460;41|22	Hom;C>T	1800;0|62
N	N	-	3	21447896	21447896	A	G	snp	nonsynonymous SNV	A290G	H97R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	VENTXP7																		rs800605	0.769369	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	VENTXP7	VENTXP7	ENSG00000236380	Na	nonsynonymous SNV	Na	Na	VENTXP7:uc003ccd.4:exon1:c.A290G:p.H97R,	Na	Het;A>G	746;61|37	Hom;A>G	4050;0|105
N	N	-	3	21462754	21462754	A	G	snp	synonymous SNV	T1140C	P380P	hydrophobic,neutral	hydrophobic,neutral	ZNF385D	 	ENSG00000151789	zinc finger protein 385D	chr3:21459915-22414812		Heart Rate; Hemoglobins; Blood Pressure; Body Mass Index; Carotid Arteries; Cardiovascular Diseases; Cholesterol; Bipolar Disorder; Glomerular Filtration Rate; Attention Deficit Disorder with Hyperactivity; Tunica Media; Lipoproteins; Magnesium; Hip; HIV-1; Tobacco Use Disorder; Coronary Artery Disease; Echocardiography; Apolipoproteins B; Epilepsies, Partial	 		GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA	GO:0005634;nucleus;IEA	GO:0002039;p53 binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IBA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF385D	https://www.uniprot.org/uniprot/Q9H6B1			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF385D&submit=Quick%0D%9472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF385D	rs451242	0.801118	0.7563	0.7835	1	0	0	exonic	exonic	exonic	ZNF385D	ZNF385D	ENSG00000151789	synonymous SNV	synonymous SNV	unknown	ZNF385D:NM_024697:exon8:c.T1140C:p.P380P,	ZNF385D:uc003cce.3:exon8:c.T1140C:p.P380P,	UNKNOWN	Het;A>G	908;74|48	Hom;A>G	3317;0|122
N	N	-	3	21462787	21462787	G	A	snp	synonymous SNV	C1107T	S369S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF385D	 	ENSG00000151789	zinc finger protein 385D	chr3:21459915-22414812		Heart Rate; Hemoglobins; Blood Pressure; Body Mass Index; Carotid Arteries; Cardiovascular Diseases; Cholesterol; Bipolar Disorder; Glomerular Filtration Rate; Attention Deficit Disorder with Hyperactivity; Tunica Media; Lipoproteins; Magnesium; Hip; HIV-1; Tobacco Use Disorder; Coronary Artery Disease; Echocardiography; Apolipoproteins B; Epilepsies, Partial	 		GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA	GO:0005634;nucleus;IEA	GO:0002039;p53 binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IBA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF385D	https://www.uniprot.org/uniprot/Q9H6B1			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF385D&submit=Quick%0D%9472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF385D	rs427233	0.915735	0.8726	0.8557	1	0	0	exonic	exonic	exonic	ZNF385D	ZNF385D	ENSG00000151789	synonymous SNV	synonymous SNV	unknown	ZNF385D:NM_024697:exon8:c.C1107T:p.S369S,	ZNF385D:uc003cce.3:exon8:c.C1107T:p.S369S,	UNKNOWN	Het;G>A	1283;84|66	Hom;G>A	3681;0|139
N	N	-	3	21515610	21515610	T	TA	indel	intronic	 	 	 	 	ZNF385D	 	ENSG00000151789	zinc finger protein 385D	chr3:21459915-22414812		Heart Rate; Hemoglobins; Blood Pressure; Body Mass Index; Carotid Arteries; Cardiovascular Diseases; Cholesterol; Bipolar Disorder; Glomerular Filtration Rate; Attention Deficit Disorder with Hyperactivity; Tunica Media; Lipoproteins; Magnesium; Hip; HIV-1; Tobacco Use Disorder; Coronary Artery Disease; Echocardiography; Apolipoproteins B; Epilepsies, Partial	 		GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA	GO:0005634;nucleus;IEA	GO:0002039;p53 binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IBA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF385D	https://www.uniprot.org/uniprot/Q9H6B1			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF385D&submit=Quick%0D%9472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF385D	rs34853843	0	0	0	1	0	0	intronic	intronic	intronic	ZNF385D	ZNF385D	ENSG00000151789	Na	Na	Na	Na	Na	Na	Het;+A	715;58|38	Hom;+A	2880;2|103
N	N	-	3	21606027	21606028	AT	A	indel	ncRNA_intronic	 	 	 	 	ZNF385D-AS1																		rs397755308	0.41853	0	0.4893	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZNF385D-AS1	ZNF385D	ENSG00000225542	Na	Na	Na	Na	Na	Na	Het;-T	464;21|31	Hom;-T	1023;3|52
N	N	-	3	22000409	22000409	A	G	snp	ncRNA_exonic	 	 	 	 	ZNF385D-AS2																		rs3821391	0.245607	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	ZNF385D-AS2	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000223351	Na	Na	Na	Na	Na	Na	Het;A>G	888;49|39	Hom;A>G	5475;0|131
N	N	-	3	22019616	22019618	TTG	T	indel	ncRNA_intronic	 	 	 	 	ZNF385D-AS2																		rs375282761	0.245008	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	ZNF385D-AS2	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000223351	Na	Na	Na	Na	Na	Na	Het;-TG	54;6|3	Hom;-TG	372;0|10
N	N	-	3	22019691	22019691	A	C	snp	ncRNA_intronic	 	 	 	 	ZNF385D-AS2																		rs2291820	0.280751	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	ZNF385D-AS2	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000223351	Na	Na	Na	Na	Na	Na	Het;A>C	224;28|14	Hom;A>C	816;0|30
N	N	-	3	22019763	22019763	C	A	snp	ncRNA_exonic	 	 	 	 	ZNF385D-AS2																		rs2291819	0.279153	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	ZNF385D-AS2	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000223351	Na	Na	Na	Na	Na	Na	Het;C>A	274;35|17	Hom;C>A	934;0|35
N	N	-	3	22019794	22019794	A	G	snp	ncRNA_intronic	 	 	 	 	ZNF385D-AS2																		rs2291818	0.280152	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	ZNF385D-AS2	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000223351	Na	Na	Na	Na	Na	Na	Het;A>G	262;29|15	Hom;A>G	803;0|29
N	N	-	3	22021227	22021227	T	C	snp	ncRNA_exonic	 	 	 	 	ZNF385D-AS2																		rs11129036	0.25	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	ZNF385D-AS2	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000223351	Na	Na	Na	Na	Na	Na	Het;T>C	2070;118|104	Hom;T>C	6062;0|226
N	N	-	3	22121266	22121266	A	G	snp	intergenic	 	 	 	 	NONE																		rs6782385	0.141973	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF385D-AS2(dist=99946),UBE2E2(dist=1123518)	NONE(dist=NONE),NONE(dist=NONE)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>G	172;16|9	Hom;A>G	591;0|18
N	N	-	3	2285905	2285905	T	A	snp	intronic	 	 	 	 	CNTN4	Cntn4	ENSG00000144619	contactin 4	chr3:2140497-3099645	This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]	Acenocoumarol maintenance dosage; Hemoglobins; Platelet Aggregation; Intelligence; Exercise Test; Gallbladder Neoplasms; Erythrocytes; Body Mass Index; Spinocerebellar Ataxias; Amyotrophic Lateral Sclerosis; Cholesterol, HDL; Glucose; Fibrinogen; Lipoproteins, VLDL; Type 2 Diabetes| edema | rosiglitazone; Blood pressure; Amyotrophic lateral sclerosis; Blood Pressure; C-Reactive Protein; Cholesterol, LDL; Platelet Count; Erythrocyte Count; Lipids; Echocardiography; schizophrenia | autism; Alcoholism	Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;TAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;TAS|GO:0007420;brain development;ISS|GO:0031175;neuron projection development;ISS|GO:0045665;negative regulation of neuron differentiation;IMP|GO:0048167;regulation of synaptic plasticity;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030424;axon;NAS|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN4	https://www.uniprot.org/uniprot/Q8IWV2		https://www.ncbi.nlm.nih.gov/omim/?term=607280	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN4&submit=Quick%0D%8631ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN4	rs1153515	0.988818	0	0	1	0	0	intronic	intronic	intronic	CNTN4	CNTN4	ENSG00000144619	Na	Na	Na	Na	Na	Na	Het;T>A	132;7|7	Hom;T>A	375;0|11
N	N	-	3	23475698	23475698	A	G	snp	ncRNA_intronic	 	 	 	 	MIR548AC																		rs778500	0.609625	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR548AC	MIR548AC	ENSG00000182247	Na	Na	Na	Na	Na	Na	Het;A>G	322;36|19	Hom;A>G	1229;0|46
N	N	-	3	25426279	25426279	C	G	snp	ncRNA_exonic	 	 	 	 	AK131021																		rs1483844	0.47484	0	0	1	0	0	intronic	ncRNA_exonic	intronic	RARB	AK131021	ENSG00000077092	Na	Na	Na	Na	Na	Na	Het;C>G	1795;70|75	Hom;C>G	2751;3|99
N	N	-	3	27424718	27424718	A	G	snp	synonymous SNV	T3132C	D1044D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SLC4A7	Slc4a7	ENSG00000033867	solute carrier family 4 member 7	chr3:27414214-27525911	This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	breast cancer ; Substance-Related Disorders; Iron; breast cancer	Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension.	Bicarbonate transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006820;anion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0060117;auditory receptor cell development;IBA|GO:0098656;anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;IEA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0008510;sodium:bicarbonate symporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC4A7	https://www.uniprot.org/uniprot/Q9Y6M7		https://www.ncbi.nlm.nih.gov/omim/?term=603353	http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A7&submit=Quick%0D%758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A7	rs1472256	0.927716	0.9168	0.9370	1	0	0	exonic	exonic	exonic	SLC4A7	SLC4A7	ENSG00000033867	synonymous SNV	synonymous SNV	unknown	SLC4A7:NM_001258379:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001258380:exon23:c.T3117C:p.D1039D,SLC4A7:NM_003615:exon24:c.T3489C:p.D1163D,	SLC4A7:uc011axa.3:exon23:c.T3132C:p.D1044D,SLC4A7:uc010hfl.4:exon16:c.T2139C:p.D713D,SLC4A7:uc011axb.3:exon24:c.T3477C:p.D1159D,SLC4A7:uc011awy.3:exon24:c.T3465C:p.D1155D,SLC4A7:uc003cdu.5:exon23:c.T3132C:p.D1044D,SLC4A7:uc003cdw.4:exon23:c.T3117C:p.D1039D,SLC4A7:uc021wun.2:exon23:c.T3144C:p.D1048D,SLC4A7:uc011aww.3:exon24:c.T3516C:p.D1172D,SLC4A7:uc011awx.3:exon24:c.T3477C:p.D1159D,SLC4A7:uc003cdv.4:exon24:c.T3489C:p.D1163D,	UNKNOWN	Het;A>G	1242;81|65	Hom;A>G	3825;2|147
N	N	-	3	27463420	27463420	A	C	snp	intronic	 	 	 	 	SLC4A7	Slc4a7	ENSG00000033867	solute carrier family 4 member 7	chr3:27414214-27525911	This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	breast cancer ; Substance-Related Disorders; Iron; breast cancer	Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension.	Bicarbonate transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006820;anion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0060117;auditory receptor cell development;IBA|GO:0098656;anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;IEA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0008510;sodium:bicarbonate symporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC4A7	https://www.uniprot.org/uniprot/Q9Y6M7		https://www.ncbi.nlm.nih.gov/omim/?term=603353	http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A7&submit=Quick%0D%758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A7	rs6551200	0.927915	0	0	1	0	0	intronic	intronic	intronic	SLC4A7	SLC4A7	ENSG00000033867	Na	Na	Na	Na	Na	Na	Het;A>C	76;4|3	Hom;A>C	141;0|4
N	N	-	3	27525831	27525831	T	C	snp	UTR5	-214A>G	 	 	 	SLC4A7	Slc4a7	ENSG00000033867	solute carrier family 4 member 7	chr3:27414214-27525911	This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]	breast cancer ; Substance-Related Disorders; Iron; breast cancer	Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension.	Bicarbonate transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006820;anion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0060117;auditory receptor cell development;IBA|GO:0098656;anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA	GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;IEA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0008510;sodium:bicarbonate symporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC4A7	https://www.uniprot.org/uniprot/Q9Y6M7		https://www.ncbi.nlm.nih.gov/omim/?term=603353	http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A7&submit=Quick%0D%758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A7	rs410934	0.926518	0	0	1	0	0	UTR5	UTR5	UTR5	SLC4A7(NM_001258379:c.-214A>G)	SLC4A7(uc011axb.3:c.-214A>G,uc011aww.3:c.-214A>G,uc011awx.3:c.-214A>G,uc021wun.2:c.-214A>G,uc003cdu.5:c.-214A>G,uc011axa.3:c.-214A>G,uc011awy.3:c.-214A>G,uc010hfm.3:c.-214A>G)	ENSG00000033867(ENST00000425128:c.-214A>G,ENST00000388777:c.-60257A>G,ENST00000435667:c.-214A>G,ENST00000445684:c.-214A>G,ENST00000455077:c.-214A>G,ENST00000446700:c.-214A>G,ENST00000437179:c.-214A>G,ENST00000438530:c.-214A>G,ENST00000457377:c.-214A>G,ENST00000440156:c.-214A>G,ENST00000454389:c.-214A>G,ENST00000437266:c.-214A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	460;18|23	Hom;T>C	1774;0|67
N	N	-	3	2924686	2924686	G	A	snp	intronic	 	 	 	 	CNTN4	Cntn4	ENSG00000144619	contactin 4	chr3:2140497-3099645	This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]	Acenocoumarol maintenance dosage; Hemoglobins; Platelet Aggregation; Intelligence; Exercise Test; Gallbladder Neoplasms; Erythrocytes; Body Mass Index; Spinocerebellar Ataxias; Amyotrophic Lateral Sclerosis; Cholesterol, HDL; Glucose; Fibrinogen; Lipoproteins, VLDL; Type 2 Diabetes| edema | rosiglitazone; Blood pressure; Amyotrophic lateral sclerosis; Blood Pressure; C-Reactive Protein; Cholesterol, LDL; Platelet Count; Erythrocyte Count; Lipids; Echocardiography; schizophrenia | autism; Alcoholism	Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;TAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;TAS|GO:0007420;brain development;ISS|GO:0031175;neuron projection development;ISS|GO:0045665;negative regulation of neuron differentiation;IMP|GO:0048167;regulation of synaptic plasticity;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030424;axon;NAS|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN4	https://www.uniprot.org/uniprot/Q8IWV2		https://www.ncbi.nlm.nih.gov/omim/?term=607280	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN4&submit=Quick%0D%8631ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN4	rs4685575	0.611422	0	0	1	0	0	intronic	intronic	intronic	CNTN4	CNTN4	ENSG00000144619	Na	Na	Na	Na	Na	Na	Het;G>A	216;3|8	Hom;G>A	140;0|5
N	N	-	3	29476428	29476428	G	A	snp	intronic	 	 	 	 	RBMS3	Rbms3	ENSG00000144642	RNA binding motif single stranded interacting protein 3	chr3:29322473-30051886	This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]	Bone Mineral Density; smoking cessation; Stroke; Bone Density; Blood Pressure; Tobacco Use Disorder; Cholesterol, HDL; Lung Neoplasms; Hypertrophy, Left Ventricular; Prostatic Neoplasms; Diabetes Mellitus; Cholesterol; Cholesterol, LDL	 		GO:0045727;positive regulation of translation;IEA	GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBMS3	https://www.uniprot.org/uniprot/Q6XE24		https://www.ncbi.nlm.nih.gov/omim/?term=605786	http://www.informatics.jax.org/searchtool/Search.do?query=RBMS3&submit=Quick%0D%8633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBMS3	rs3773018	0.470647	0.4196	0.4332	1	0	0	intronic	intronic	intronic	RBMS3	RBMS3	ENSG00000144642	Na	Na	Na	Na	Na	Na	Het;G>A	524;12|26	Hom;G>A	1230;0|47
N	N	-	3	31035759	31035763	GTATA	G	indel	intergenic	 	 	 	 	GADL1	Gadl1	ENSG00000144644	glutamate decarboxylase like 1	chr3:30767692-30936257		Varicose Veins; Blood Coagulation Factors; Alanine Transaminase; Eosinophils; Body Mass Index; Insulin Resistance; Body Weights and Measures	 	Amino acid synthesis and interconversion (transamination)	GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0019752;carboxylic acid metabolic process;IEA	GO:0005829;cytosol;TAS	GO:0003824;catalytic activity;IEA|GO:0004068;aspartate 1-decarboxylase activity;IEA|GO:0004782;sulfinoalanine decarboxylase activity;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;TAS|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GADL1	https://www.uniprot.org/uniprot/Q6ZQY3		https://www.ncbi.nlm.nih.gov/omim/?term=615601	http://www.informatics.jax.org/searchtool/Search.do?query=GADL1&submit=Quick%0D%8634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GADL1	rs398062202	0.272165	0	0	1	0	0	intergenic	intergenic	intergenic	GADL1(dist=99606),MIR466(dist=167433)	GADL1(dist=99606),STT3B(dist=538728)	ENSG00000144644(dist=99502),ENSG00000265376(dist=167433)	Na	Na	Na	Na	Na	Na	Het;-TATA	161;4|5	Hom;-TATA	233;0|6
N	N	-	3	31486162	31486162	A	G	snp	intergenic	 	 	 	 	ENSG00000238727																		rs6550054	0.556709	0	0	1	0	0	intergenic	intergenic	intergenic	MIR466(dist=282883),STT3B(dist=87831)	GADL1(dist=550009),STT3B(dist=88329)	ENSG00000238727(dist=48639),ENSG00000227339(dist=8162)	Na	Na	Na	Na	Na	Na	Het;A>G	2412;104|114	Hom;A>G	5566;1|208
N	N	-	3	31494587	31494587	G	A	snp	ncRNA_exonic	 	 	 	 	THRAP3P1																		rs17027714	0.326078	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR466(dist=291308),STT3B(dist=79406)	GADL1(dist=558434),STT3B(dist=79904)	ENSG00000227339	Na	Na	Na	Na	Na	Na	Het;G>A	844;39|41	Hom;G>A	2128;0|76
N	N	-	3	31494993	31494993	C	T	snp	ncRNA_exonic	 	 	 	 	THRAP3P1																		rs9824199	0.460064	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR466(dist=291714),STT3B(dist=79000)	GADL1(dist=558840),STT3B(dist=79498)	ENSG00000227339	Na	Na	Na	Na	Na	Na	Het;C>T	753;35|34	Hom;C>T	1766;0|63
N	N	-	3	31495219	31495219	C	A	snp	ncRNA_exonic	 	 	 	 	THRAP3P1																		rs11708946	0.235823	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR466(dist=291940),STT3B(dist=78774)	GADL1(dist=559066),STT3B(dist=79272)	ENSG00000227339	Na	Na	Na	Na	Na	Na	Het;C>A	394;19|18	Hom;C>A	816;0|28
N	N	-	3	31752420	31752420	A	G	snp	ncRNA_intronic	 	 	 	 	OSBPL10-AS1																		rs3749402	0.350839	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	OSBPL10-AS1	OSBPL10-AS1	ENSG00000232490	Na	Na	Na	Na	Na	Na	Het;A>G	703;39|29	Hom;A>G	1531;0|57
N	N	-	3	3189398	3189398	A	G	snp	intronic	 	 	 	 	TRNT1	Trnt1	ENSG00000072756	tRNA nucleotidyl transferase 1	chr3:3168600-3192563	The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Acquired Immunodeficiency Syndrome|Disease Progression	 	tRNA processing in the mitochondrion	GO:0001680;tRNA 3'-terminal CCA addition;IDA|GO:0006396;RNA processing;IEA|GO:0006626;protein targeting to mitochondrion;TAS|GO:0008033;tRNA processing;IEA|GO:0042780;tRNA 3'-end processing;TAS|GO:1990180;mitochondrial tRNA 3'-end processing;TAS	GO:0005622;intracellular;IDA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000049;tRNA binding;IDA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004810;tRNA adenylyltransferase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0034062;5'-3' RNA polymerase activity;TAS|GO:0052927;CTP:tRNA cytidylyltransferase activity;IEA|GO:0052928;CTP:3'-cytidine-tRNA cytidylyltransferase activity;IEA|GO:0052929;ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRNT1	https://www.uniprot.org/uniprot/Q96Q11	https://hpo.jax.org/app/browse/search?q=TRNT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612907	http://www.informatics.jax.org/searchtool/Search.do?query=TRNT1&submit=Quick%0D%1445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRNT1	rs1669348	0.400759	0.5803	0.5430	1	0	0	intronic	intronic	intronic	TRNT1	TRNT1	ENSG00000072756	Na	Na	Na	Na	Na	Na	Het;A>G	1246;46|54	Hom;A>G	3030;0|105
N	N	-	3	3192524	3192524	A	ATAAC	indel	UTR3	*474A>ATAAC	 	 	 	TRNT1	Trnt1	ENSG00000072756	tRNA nucleotidyl transferase 1	chr3:3168600-3192563	The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Acquired Immunodeficiency Syndrome|Disease Progression	 	tRNA processing in the mitochondrion	GO:0001680;tRNA 3'-terminal CCA addition;IDA|GO:0006396;RNA processing;IEA|GO:0006626;protein targeting to mitochondrion;TAS|GO:0008033;tRNA processing;IEA|GO:0042780;tRNA 3'-end processing;TAS|GO:1990180;mitochondrial tRNA 3'-end processing;TAS	GO:0005622;intracellular;IDA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000049;tRNA binding;IDA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004810;tRNA adenylyltransferase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0034062;5'-3' RNA polymerase activity;TAS|GO:0052927;CTP:tRNA cytidylyltransferase activity;IEA|GO:0052928;CTP:3'-cytidine-tRNA cytidylyltransferase activity;IEA|GO:0052929;ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRNT1	https://www.uniprot.org/uniprot/Q96Q11	https://hpo.jax.org/app/browse/search?q=TRNT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612907	http://www.informatics.jax.org/searchtool/Search.do?query=TRNT1&submit=Quick%0D%1445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRNT1	rs3830315	0	0.5590	0.5523	1	0	0	UTR3	UTR3	UTR3	CRBN(NM_016302:c.*25T>GTTAT,NM_001173482:c.*25T>GTTAT)	CRBN(uc003bpr.3:c.*25T>GTTAT,uc003bpq.3:c.*25T>GTTAT)	ENSG00000072756(ENST00000434583:c.*474A>ATAAC),ENSG00000113851(ENST00000432408:c.*25T>GTTAT,ENST00000231948:c.*25T>GTTAT,ENST00000424814:c.*25T>GTTAT)	Na	Na	Na	Na	Na	Na	Het;+TAAC	633;13|14	Hom;+TAAC	1443;0|27
N	N	-	3	3216714	3216714	T	A	snp	intronic	 	 	 	 	CRBN	Crbn	ENSG00000113851	cereblon	chr3:3190676-3221394	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Prostatic Neoplasms; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Pancreatic Neoplasms; Iron; Fibrinogen; Bipolar Disorder; Vitamin K; Creatinine; Neutrophils; Cholesterol, HDL; Bone Density; Echocardiography; Tunica Media; C-Reactive Protein; Blood Pressure	Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance.		GO:0016567;protein ubiquitination;IEA|GO:0032463;negative regulation of protein homooligomerization;IEA|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0090073;positive regulation of protein homodimerization activity;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRBN	https://www.uniprot.org/uniprot/Q96SW2	https://hpo.jax.org/app/browse/search?q=CRBN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609262	http://www.informatics.jax.org/searchtool/Search.do?query=CRBN&submit=Quick%0D%4415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRBN	rs77585218	0.508786	0	0	1	0	0	intronic	intronic	intronic	CRBN	CRBN	ENSG00000113851	Na	Na	Na	Na	Na	Na	Het;T>A	299;3|8	Hom;T>A	422;0|9
N	N	-	3	3216716	3216716	G	T	snp	intronic	 	 	 	 	CRBN	Crbn	ENSG00000113851	cereblon	chr3:3190676-3221394	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Prostatic Neoplasms; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Pancreatic Neoplasms; Iron; Fibrinogen; Bipolar Disorder; Vitamin K; Creatinine; Neutrophils; Cholesterol, HDL; Bone Density; Echocardiography; Tunica Media; C-Reactive Protein; Blood Pressure	Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance.		GO:0016567;protein ubiquitination;IEA|GO:0032463;negative regulation of protein homooligomerization;IEA|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0090073;positive regulation of protein homodimerization activity;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRBN	https://www.uniprot.org/uniprot/Q96SW2	https://hpo.jax.org/app/browse/search?q=CRBN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609262	http://www.informatics.jax.org/searchtool/Search.do?query=CRBN&submit=Quick%0D%4415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRBN	rs116480455	0.508786	0	0	1	0	0	intronic	intronic	intronic	CRBN	CRBN	ENSG00000113851	Na	Na	Na	Na	Na	Na	Het;G>T	293;3|8	Hom;G>T	467;0|10
N	N	-	3	3216717	3216717	C	T	snp	intronic	 	 	 	 	CRBN	Crbn	ENSG00000113851	cereblon	chr3:3190676-3221394	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Prostatic Neoplasms; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Pancreatic Neoplasms; Iron; Fibrinogen; Bipolar Disorder; Vitamin K; Creatinine; Neutrophils; Cholesterol, HDL; Bone Density; Echocardiography; Tunica Media; C-Reactive Protein; Blood Pressure	Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance.		GO:0016567;protein ubiquitination;IEA|GO:0032463;negative regulation of protein homooligomerization;IEA|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0090073;positive regulation of protein homodimerization activity;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRBN	https://www.uniprot.org/uniprot/Q96SW2	https://hpo.jax.org/app/browse/search?q=CRBN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609262	http://www.informatics.jax.org/searchtool/Search.do?query=CRBN&submit=Quick%0D%4415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRBN	rs115361677	0.508786	0	0	1	0	0	intronic	intronic	intronic	CRBN	CRBN	ENSG00000113851	Na	Na	Na	Na	Na	Na	Het;C>T	293;4|8	Hom;C>T	557;0|10
N	N	-	3	3216721	3216721	T	TG	indel	intronic	 	 	 	 	CRBN	Crbn	ENSG00000113851	cereblon	chr3:3190676-3221394	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Prostatic Neoplasms; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Pancreatic Neoplasms; Iron; Fibrinogen; Bipolar Disorder; Vitamin K; Creatinine; Neutrophils; Cholesterol, HDL; Bone Density; Echocardiography; Tunica Media; C-Reactive Protein; Blood Pressure	Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance.		GO:0016567;protein ubiquitination;IEA|GO:0032463;negative regulation of protein homooligomerization;IEA|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0090073;positive regulation of protein homodimerization activity;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRBN	https://www.uniprot.org/uniprot/Q96SW2	https://hpo.jax.org/app/browse/search?q=CRBN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609262	http://www.informatics.jax.org/searchtool/Search.do?query=CRBN&submit=Quick%0D%4415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRBN	rs147502997	0.00798722	0	0	1	0	0	intronic	intronic	intronic	CRBN	CRBN	ENSG00000113851	Na	Na	Na	Na	Na	Na	Het;+G	278;6|8	Hom;+G	593;0|14
N	N	-	3	3216723	3216723	G	GGA	indel	intronic	 	 	 	 	CRBN	Crbn	ENSG00000113851	cereblon	chr3:3190676-3221394	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Prostatic Neoplasms; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Pancreatic Neoplasms; Iron; Fibrinogen; Bipolar Disorder; Vitamin K; Creatinine; Neutrophils; Cholesterol, HDL; Bone Density; Echocardiography; Tunica Media; C-Reactive Protein; Blood Pressure	Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance.		GO:0016567;protein ubiquitination;IEA|GO:0032463;negative regulation of protein homooligomerization;IEA|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0090073;positive regulation of protein homodimerization activity;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRBN	https://www.uniprot.org/uniprot/Q96SW2	https://hpo.jax.org/app/browse/search?q=CRBN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609262	http://www.informatics.jax.org/searchtool/Search.do?query=CRBN&submit=Quick%0D%4415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRBN	rs374641314	0	0	0	1	0	0	intronic	intronic	intronic	CRBN	CRBN	ENSG00000113851	Na	Na	Na	Na	Na	Na	Het;+GA	320;7|8	Hom;+GA	773;0|14
N	N	-	3	3216724	3216724	C	CT	indel	intronic	 	 	 	 	CRBN	Crbn	ENSG00000113851	cereblon	chr3:3190676-3221394	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Prostatic Neoplasms; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Pancreatic Neoplasms; Iron; Fibrinogen; Bipolar Disorder; Vitamin K; Creatinine; Neutrophils; Cholesterol, HDL; Bone Density; Echocardiography; Tunica Media; C-Reactive Protein; Blood Pressure	Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance.		GO:0016567;protein ubiquitination;IEA|GO:0032463;negative regulation of protein homooligomerization;IEA|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0090073;positive regulation of protein homodimerization activity;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRBN	https://www.uniprot.org/uniprot/Q96SW2	https://hpo.jax.org/app/browse/search?q=CRBN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609262	http://www.informatics.jax.org/searchtool/Search.do?query=CRBN&submit=Quick%0D%4415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRBN	rs367608520	0.509984	0	0	1	0	0	intronic	intronic	intronic	CRBN	CRBN	ENSG00000113851	Na	Na	Na	Na	Na	Na	Het;+T	320;7|9	Hom;+T	773;0|15
N	N	-	3	3216725	3216725	C	A	snp	intronic	 	 	 	 	CRBN	Crbn	ENSG00000113851	cereblon	chr3:3190676-3221394	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Prostatic Neoplasms; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Pancreatic Neoplasms; Iron; Fibrinogen; Bipolar Disorder; Vitamin K; Creatinine; Neutrophils; Cholesterol, HDL; Bone Density; Echocardiography; Tunica Media; C-Reactive Protein; Blood Pressure	Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance.		GO:0016567;protein ubiquitination;IEA|GO:0032463;negative regulation of protein homooligomerization;IEA|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0090073;positive regulation of protein homodimerization activity;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRBN	https://www.uniprot.org/uniprot/Q96SW2	https://hpo.jax.org/app/browse/search?q=CRBN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609262	http://www.informatics.jax.org/searchtool/Search.do?query=CRBN&submit=Quick%0D%4415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRBN	rs148260930	0.509984	0	0	1	0	0	intronic	intronic	intronic	CRBN	CRBN	ENSG00000113851	Na	Na	Na	Na	Na	Na	Het;C>A	329;7|9	Hom;C>A	782;0|18
N	N	-	3	32933344	32933344	G	GTC	indel	UTR3	*41G>GTC	 	 	 	TRIM71	Trim71	ENSG00000206557	tripartite motif containing 71	chr3:32859510-32939318	The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]	Respiratory Function Tests	Homozygous gene trap mutations of this gene result in failure of cranial neural tube closure and embryonic lethality. Homozygotes for a gene trap allele exhibit exencephaly, abnormal nasal process and facial prominence, reduced brain size, and embryonic or fetal lethality.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001843;neural tube closure;IEA|GO:0007275;multicellular organism development;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0010586;miRNA metabolic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0017148;negative regulation of translation;IDA|GO:0021915;neural tube development;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0035278;miRNA mediated inhibition of translation;IEA|GO:0051246;regulation of protein metabolic process;IEA|GO:0051865;protein autoubiquitination;IEA|GO:0060964;regulation of gene silencing by miRNA;IEA|GO:0061158;3'-UTR-mediated mRNA destabilization;IDA|GO:0071310;cellular response to organic substance;IEA|GO:0072089;stem cell proliferation;IEA|GO:2000177;regulation of neural precursor cell proliferation;IEA|GO:2000637;positive regulation of gene silencing by miRNA;IEA	GO:0000932;P-body;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA	GO:0003723;RNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0030371;translation repressor activity;IDA|GO:0035198;miRNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM71				http://www.informatics.jax.org/searchtool/Search.do?query=TRIM71&submit=Quick%0D%17758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM71	rs10630076	0	0	0.3554	1	0	0	UTR3	UTR3	UTR3	TRIM71(NM_001039111:c.*41G>GTC)	TRIM71(uc003cff.3:c.*41G>GTC)	ENSG00000206557(ENST00000383763:c.*41G>GTC)	Na	Na	Na	Na	Na	Na	Het;+TC	155;18|8	Hom;+TC	781;2|26
N	N	-	3	33038183	33038183	A	G	snp	UTR3	*354T>C	 	 	 	GLB1	Glb1	ENSG00000170266	galactosidase beta 1	chr3:33038100-33138722	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]	Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age.	Neutrophil degranulation	GO:0005975;carbohydrate metabolic process;IEA|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0019388;galactose catabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0044262;cellular carbohydrate metabolic process;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005773;vacuole;IBA|GO:0005794;Golgi apparatus;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004308;exo-alpha-sialidase activity;TAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004565;beta-galactosidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0016936;galactoside binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLB1		https://hpo.jax.org/app/browse/search?q=GLB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611458	http://www.informatics.jax.org/searchtool/Search.do?query=GLB1&submit=Quick%0D%12662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLB1	rs12167	0.198283	0	0	1	0	0	UTR3	UTR3	UTR3	GLB1(NM_001135602:c.*354T>C,NM_000404:c.*354T>C,NM_001079811:c.*354T>C)	GLB1(uc003cfh.1:c.*354T>C,uc003cfi.1:c.*354T>C,uc003cfj.1:c.*354T>C,uc011axk.1:c.*354T>C)	ENSG00000170266(ENST00000307363:c.*354T>C,ENST00000399402:c.*354T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	869;39|38	Hom;A>G	1909;0|68
N	N	-	3	33260422	33260422	C	T	snp	UTR5	-133G>A	 	 	 	SUSD5	Susd5	ENSG00000173705	sushi domain containing 5	chr3:33191537-33260707		Tunica Media	 		GO:0007155;cell adhesion;IEA|GO:0007219;Notch signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUSD5				http://www.informatics.jax.org/searchtool/Search.do?query=SUSD5&submit=Quick%0D%13414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUSD5	rs6764459	0.245407	0	0	1	0	0	UTR5	UTR5	UTR5	SUSD5(NM_015551:c.-133G>A)	SUSD5(uc003cfo.1:c.-133G>A)	ENSG00000173705(ENST00000309558:c.-133G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	164;5|9	Hom;C>T	336;0|14
N	N	-	3	33437544	33437544	T	C	snp	intronic	 	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs3817476	0.321685	0	0	1	0	0	intronic	intronic	intronic	UBP1	UBP1	ENSG00000153560	Na	Na	Na	Na	Na	Na	Het;T>C	167;6|6	Hom;T>C	688;0|21
N	N	-	3	33445060	33445060	G	A	snp	intronic	 	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs200412045	0.178315	0	0	1	0	0	intronic	intronic	intronic	UBP1	UBP1	ENSG00000153560	Na	Na	Na	Na	Na	Na	Het;G>A	305;1|8	Hom;G>A	1097;0|25
N	N	-	3	33445064	33445064	G	A	snp	intronic	 	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs201137187	0.23103	0	0	1	0	0	intronic	intronic	intronic	UBP1	UBP1	ENSG00000153560	Na	Na	Na	Na	Na	Na	Het;G>A	305;1|8	Hom;G>A	1142;0|25
N	N	-	3	33445068	33445068	G	A	snp	intronic	 	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs636859	0	0	0	1	0	0	intronic	intronic	intronic	UBP1	UBP1	ENSG00000153560	Na	Na	Na	Na	Na	Na	Het;G>A	305;1|8	Hom;G>A	1142;0|26
N	N	-	3	33445072	33445072	G	A	snp	intronic	 	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs59264484	0.915136	0	0	1	0	0	intronic	intronic	intronic	UBP1	UBP1	ENSG00000153560	Na	Na	Na	Na	Na	Na	Het;G>A	305;1|8	Hom;G>A	1142;0|26
N	N	-	3	33445076	33445076	G	A	snp	intronic	 	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs1719702	0.939097	0	0	1	0	0	intronic	intronic	intronic	UBP1	UBP1	ENSG00000153560	Na	Na	Na	Na	Na	Na	Het;G>A	305;1|8	Hom;G>A	1142;0|26
N	N	-	3	33454342	33454342	G	A	snp	intronic	 	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs2272152	0.327276	0.2291	0.2445	1	0	0	intronic	intronic	intronic	UBP1	UBP1	ENSG00000153560	Na	Na	Na	Na	Na	Na	Het;G>A	1088;67|53	Hom;G>A	2598;0|94
N	N	-	3	33481400	33481400	G	C	snp	UTR5	-60C>G	 	 	 	UBP1	Ubp1	ENSG00000153560	upstream binding protein 1 (LBP-1a)	chr3:33429828-33482863		Hip; Behcet Syndrome	Mice homozygous for disruptions in this gene die during gestation.		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UBP1	https://www.uniprot.org/uniprot/Q9NZI7		https://www.ncbi.nlm.nih.gov/omim/?term=609784	http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1	rs2272153	0.329872	0	0	1	0	0	UTR5	UTR5	UTR5	UBP1(NM_001128161:c.-60C>G,NM_014517:c.-60C>G,NM_001128160:c.-60C>G)	UBP1(uc003cfq.4:c.-60C>G,uc003cfr.4:c.-60C>G,uc010hga.3:c.-60C>G)	ENSG00000153560(ENST00000283629:c.-60C>G,ENST00000447368:c.-60C>G,ENST00000283628:c.-60C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	271;23|13	Hom;G>C	982;0|36
N	N	-	3	33552004	33552004	T	C	snp	intronic	 	 	 	 	CLASP2	Clasp2	ENSG00000163539	cytoplasmic linker associated protein 2	chr3:33537737-33759848		depression; Tobacco Use Disorder; Behcet Syndrome	Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts.	Mitotic Prometaphase	GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006903;vesicle targeting;IMP|GO:0007020;microtubule nucleation;IMP|GO:0007026;negative regulation of microtubule depolymerization;NAS|GO:0007030;Golgi organization;IMP|GO:0007049;cell cycle;IEA|GO:0007052;mitotic spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0010458;exit from mitosis;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0031023;microtubule organizing center organization;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0034453;microtubule anchoring;IMP|GO:0045921;positive regulation of exocytosis;IMP|GO:0051301;cell division;IEA|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090091;positive regulation of extracellular matrix disassembly;IMP|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0045180;basal cortex;IDA|GO:0072686;mitotic spindle;IMP	GO:0002162;dystroglycan binding;IPI|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLASP2			https://www.ncbi.nlm.nih.gov/omim/?term=605853	http://www.informatics.jax.org/searchtool/Search.do?query=CLASP2&submit=Quick%0D%11004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLASP2	rs2049281	0.341254	0.2761	0.3210	1	0	0	intronic	intronic	intronic	CLASP2	CLASP2	ENSG00000163539	Na	Na	Na	Na	Na	Na	Het;T>C	474;13|19	Hom;T>C	1264;0|39
N	N	-	3	33612364	33612365	TA	T	indel	intronic	 	 	 	 	CLASP2	Clasp2	ENSG00000163539	cytoplasmic linker associated protein 2	chr3:33537737-33759848		depression; Tobacco Use Disorder; Behcet Syndrome	Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts.	Mitotic Prometaphase	GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006903;vesicle targeting;IMP|GO:0007020;microtubule nucleation;IMP|GO:0007026;negative regulation of microtubule depolymerization;NAS|GO:0007030;Golgi organization;IMP|GO:0007049;cell cycle;IEA|GO:0007052;mitotic spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0010458;exit from mitosis;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0031023;microtubule organizing center organization;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0034453;microtubule anchoring;IMP|GO:0045921;positive regulation of exocytosis;IMP|GO:0051301;cell division;IEA|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090091;positive regulation of extracellular matrix disassembly;IMP|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0045180;basal cortex;IDA|GO:0072686;mitotic spindle;IMP	GO:0002162;dystroglycan binding;IPI|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLASP2			https://www.ncbi.nlm.nih.gov/omim/?term=605853	http://www.informatics.jax.org/searchtool/Search.do?query=CLASP2&submit=Quick%0D%11004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLASP2	rs535882973	0.814097	0	0	1	0	0	intronic	intronic	intronic	CLASP2	CLASP2	ENSG00000163539	Na	Na	Na	Na	Na	Na	Het;-A	98;3|9	Hom;-A	55;0|4
N	N	-	3	33615874	33615874	G	A	snp	intronic	 	 	 	 	CLASP2	Clasp2	ENSG00000163539	cytoplasmic linker associated protein 2	chr3:33537737-33759848		depression; Tobacco Use Disorder; Behcet Syndrome	Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts.	Mitotic Prometaphase	GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006903;vesicle targeting;IMP|GO:0007020;microtubule nucleation;IMP|GO:0007026;negative regulation of microtubule depolymerization;NAS|GO:0007030;Golgi organization;IMP|GO:0007049;cell cycle;IEA|GO:0007052;mitotic spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0010458;exit from mitosis;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0031023;microtubule organizing center organization;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0034453;microtubule anchoring;IMP|GO:0045921;positive regulation of exocytosis;IMP|GO:0051301;cell division;IEA|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090091;positive regulation of extracellular matrix disassembly;IMP|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0045180;basal cortex;IDA|GO:0072686;mitotic spindle;IMP	GO:0002162;dystroglycan binding;IPI|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLASP2			https://www.ncbi.nlm.nih.gov/omim/?term=605853	http://www.informatics.jax.org/searchtool/Search.do?query=CLASP2&submit=Quick%0D%11004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLASP2	rs9841413	0.357827	0	0	1	0	0	intronic	intronic	intronic	CLASP2	CLASP2	ENSG00000163539	Na	Na	Na	Na	Na	Na	Het;G>A	289;11|13	Hom;G>A	358;0|14
N	N	-	3	33617790	33617790	A	G	snp	intronic	 	 	 	 	CLASP2	Clasp2	ENSG00000163539	cytoplasmic linker associated protein 2	chr3:33537737-33759848		depression; Tobacco Use Disorder; Behcet Syndrome	Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts.	Mitotic Prometaphase	GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006903;vesicle targeting;IMP|GO:0007020;microtubule nucleation;IMP|GO:0007026;negative regulation of microtubule depolymerization;NAS|GO:0007030;Golgi organization;IMP|GO:0007049;cell cycle;IEA|GO:0007052;mitotic spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0010458;exit from mitosis;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0031023;microtubule organizing center organization;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0034453;microtubule anchoring;IMP|GO:0045921;positive regulation of exocytosis;IMP|GO:0051301;cell division;IEA|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090091;positive regulation of extracellular matrix disassembly;IMP|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0045180;basal cortex;IDA|GO:0072686;mitotic spindle;IMP	GO:0002162;dystroglycan binding;IPI|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLASP2			https://www.ncbi.nlm.nih.gov/omim/?term=605853	http://www.informatics.jax.org/searchtool/Search.do?query=CLASP2&submit=Quick%0D%11004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLASP2	rs4629282	0.216254	0.1357	0.1911	1	0	0	intronic	intronic	intronic	CLASP2	CLASP2	ENSG00000163539	Na	Na	Na	Na	Na	Na	Het;A>G	1063;54|52	Hom;A>G	3032;0|100
N	N	-	3	33653622	33653622	T	G	snp	intronic	 	 	 	 	CLASP2	Clasp2	ENSG00000163539	cytoplasmic linker associated protein 2	chr3:33537737-33759848		depression; Tobacco Use Disorder; Behcet Syndrome	Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts.	Mitotic Prometaphase	GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006903;vesicle targeting;IMP|GO:0007020;microtubule nucleation;IMP|GO:0007026;negative regulation of microtubule depolymerization;NAS|GO:0007030;Golgi organization;IMP|GO:0007049;cell cycle;IEA|GO:0007052;mitotic spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0010458;exit from mitosis;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0031023;microtubule organizing center organization;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0034453;microtubule anchoring;IMP|GO:0045921;positive regulation of exocytosis;IMP|GO:0051301;cell division;IEA|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090091;positive regulation of extracellular matrix disassembly;IMP|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0045180;basal cortex;IDA|GO:0072686;mitotic spindle;IMP	GO:0002162;dystroglycan binding;IPI|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLASP2			https://www.ncbi.nlm.nih.gov/omim/?term=605853	http://www.informatics.jax.org/searchtool/Search.do?query=CLASP2&submit=Quick%0D%11004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLASP2	rs6807542	0.251597	0.2567	0	1	0	0	intronic	intronic	intronic	CLASP2	CLASP2	ENSG00000163539	Na	Na	Na	Na	Na	Na	Het;T>G	358;21|16	Hom;T>G	1420;0|49
N	N	-	3	33799978	33799978	T	G	snp	intergenic	 	 	 	 	AC112220.1																		rs4679084	0.336661	0	0	1	0	0	intergenic	intergenic	intergenic	CLASP2(dist=40273),PDCD6IP(dist=40085)	CLASP2(dist=40273),PDCD6IP(dist=40085)	ENSG00000228112(dist=30882),ENSG00000227707(dist=13477)	Na	Na	Na	Na	Na	Na	Het;T>G	87;4|4	Hom;T>G	672;0|19
N	N	-	3	33853747	33853747	C	T	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs9851801	0.326478	0	0	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;C>T	182;6|7	Hom;C>T	537;0|16
N	N	-	3	33853764	33853768	GAAGA	G	indel	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs143122830	0.213858	0	0	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;-AAGA	158;5|5	Hom;-AAGA	493;0|12
N	N	-	3	33863369	33863369	C	T	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs72619958	0.213858	0	0	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;C>T	132;4|6	Hom;C>T	339;0|11
N	N	-	3	33863683	33863683	A	T	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs3762817	0.329473	0	0	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;A>T	128;7|7	Hom;A>T	437;0|16
N	N	-	3	33866868	33866868	A	G	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs12488699	0.332268	0.2767	0.3105	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;A>G	711;25|29	Hom;A>G	2212;0|70
N	N	-	3	33866929	33866929	G	T	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs12495243	0.329273	0	0	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;G>T	102;3|4	Hom;G>T	531;0|17
N	N	-	3	33877508	33877508	T	A	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs3792595	0.213259	0.0926	0.1723	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;T>A	230;17|11	Hom;T>A	858;0|30
N	N	-	3	33877626	33877626	G	A	snp	nonsynonymous SNV	G940A	A314T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs3792594	0.327276	0.2758	0.3074	0.15	2	13	exonic	exonic	exonic	PDCD6IP	PDCD6IP	ENSG00000170248	nonsynonymous SNV	nonsynonymous SNV	unknown	PDCD6IP:NM_001162429:exon8:c.G940A:p.A314T,PDCD6IP:NM_013374:exon8:c.G925A:p.A309T,	PDCD6IP:uc003cfx.4:exon8:c.G925A:p.A309T,PDCD6IP:uc011axw.3:exon2:c.G268A:p.A90T,PDCD6IP:uc003cfy.4:exon8:c.G940A:p.A314T,	UNKNOWN	Het;G>A	1546;52|77	Hom;G>A	2730;0|100
N	N	-	3	33879602	33879604	CTA	C	indel	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs369198522	0.298123	0	0	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;-TA	252;14|8	Hom;-TA	477;0|12
N	N	-	3	33887102	33887102	A	G	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs11928792	0.330471	0.2760	0.3110	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;A>G	1165;57|51	Hom;A>G	2320;0|84
N	N	-	3	33887178	33887178	A	T	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs11928817	0.214257	0	0	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;A>T	237;11|11	Hom;A>T	576;0|20
N	N	-	3	33895391	33895391	A	G	snp	synonymous SNV	A1911G	S637S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs3183982	0.330272	0.2544	0.4002	1	0	0	exonic	exonic	exonic	PDCD6IP	PDCD6IP	ENSG00000170248	synonymous SNV	synonymous SNV	unknown	PDCD6IP:NM_001162429:exon14:c.A1926G:p.S642S,PDCD6IP:NM_013374:exon14:c.A1911G:p.S637S,	PDCD6IP:uc003cfx.4:exon14:c.A1911G:p.S637S,PDCD6IP:uc011axw.3:exon8:c.A1254G:p.S418S,PDCD6IP:uc003cfy.4:exon14:c.A1926G:p.S642S,	UNKNOWN	Het;A>G	1168;61|52	Hom;A>G	2312;1|83
N	N	-	3	33905471	33905471	A	G	snp	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs11922311	0.214457	0.1031	0.1724	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;A>G	555;25|25	Hom;A>G	1339;0|42
N	N	-	3	33905566	33905566	C	T	snp	nonsynonymous SNV	C2204T	S735L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs1127732	0.247804	0.1542	0.2204	0.38	5	13	exonic	exonic	exonic	PDCD6IP	PDCD6IP	ENSG00000170248	nonsynonymous SNV	nonsynonymous SNV	unknown	PDCD6IP:NM_001162429:exon16:c.C2204T:p.S735L,PDCD6IP:NM_013374:exon16:c.C2189T:p.S730L,	PDCD6IP:uc003cfx.4:exon16:c.C2189T:p.S730L,PDCD6IP:uc011axw.3:exon10:c.C1532T:p.S511L,PDCD6IP:uc003cfy.4:exon16:c.C2204T:p.S735L,	UNKNOWN	Het;C>T	1059;46|54	Hom;C>T	2520;0|96
N	N	-	3	33907835	33907835	T	TCTCC	indel	intronic	 	 	 	 	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs5847794	0	0.0003	0.2939	1	0	0	intronic	intronic	intronic	PDCD6IP	PDCD6IP	ENSG00000170248	Na	Na	Na	Na	Na	Na	Het;+CTCC	792;15|19	Hom;+CTCC	1942;0|44
N	N	-	3	33907945	33907945	A	G	snp	synonymous SNV	A2535G	P845P	hydrophobic,neutral	hydrophobic,neutral	PDCD6IP	Pdcd6ip	ENSG00000170248	programmed cell death 6 interacting protein	chr3:33839844-33911194	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]	longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip	Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.	Uptake and function of anthrax toxins	GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP	GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP			https://www.ncbi.nlm.nih.gov/omim/?term=608074	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP	rs3183987	0.330471	0.2764	0.3091	1	0	0	exonic	exonic	exonic	PDCD6IP	PDCD6IP	ENSG00000170248	synonymous SNV	synonymous SNV	unknown	PDCD6IP:NM_001162429:exon18:c.A2550G:p.P850P,PDCD6IP:NM_013374:exon18:c.A2535G:p.P845P,	PDCD6IP:uc003cfx.4:exon18:c.A2535G:p.P845P,PDCD6IP:uc011axw.3:exon12:c.A1878G:p.P626P,PDCD6IP:uc003cfy.4:exon18:c.A2550G:p.P850P,	UNKNOWN	Het;A>G	1085;32|50	Hom;A>G	2101;1|74
N	N	-	3	34971013	34971013	C	A	snp	ncRNA_intronic	 	 	 	 	LOC101928135																		rs7652900	0.477236	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC101928135	PDCD6IP(dist=1059814),ARPP21(dist=709653)	ENSG00000235534(dist=55667),ENSG00000228767(dist=286184)	Na	Na	Na	Na	Na	Na	Het;C>A	411;24|22	Hom;C>A	635;0|26
N	N	-	3	35019897	35019897	G	T	snp	ncRNA_intronic	 	 	 	 	LOC101928135																		rs62258784	0.195288	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC101928135	PDCD6IP(dist=1108698),ARPP21(dist=660769)	ENSG00000235534(dist=104551),ENSG00000228767(dist=237300)	Na	Na	Na	Na	Na	Na	Het;G>T	1172;47|57	Hom;G>T	3004;0|112
N	N	-	3	35266858	35266858	T	G	snp	ncRNA_intronic	 	 	 	 	LOC101928135																		rs73059012	0.013778	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC101928135	PDCD6IP(dist=1355659),ARPP21(dist=413808)	ENSG00000228767(dist=8217),ENSG00000212442(dist=31474)	Na	Na	Na	Na	Na	Na	Het;T>G	81;5|5	Hom;T>G	111;0|5
N	N	-	3	36809360	36809360	A	C	snp	ncRNA_exonic	 	 	 	 	HSPD1P6																		rs73054265	0.236422	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	DCLK3(dist=28008),TRANK1(dist=58948)	DCLK3(dist=28008),TRANK1(dist=58948)	ENSG00000230067	Na	Na	Na	Na	Na	Na	Het;A>C	192;16|8	Hom;A>C	874;0|31
N	N	-	3	37583851	37583851	A	C	snp	intronic	 	 	 	 	ITGA9	Itga9	ENSG00000144668	integrin subunit alpha 9	chr3:37493606-37865005	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]	null; Tobacco Use Disorder; nasopharyngeal carcinoma; hypertension; Nasopharyngeal Neoplasms; Chylothorax; Phospholipids	Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall.	Signal transduction by L1	GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0042060;wound healing;IEA	GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;IEA|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034679;integrin alpha9-beta1 complex;IEA	GO:0005518;collagen binding;IEA|GO:0043236;laminin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA9	https://www.uniprot.org/uniprot/Q13797		https://www.ncbi.nlm.nih.gov/omim/?term=603963	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA9&submit=Quick%0D%8641ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA9	rs2844349	0.0978435	0	0	1	0	0	intronic	intronic	intronic	ITGA9	ITGA9	ENSG00000144668	Na	Na	Na	Na	Na	Na	Het;A>C	263;8|11	Hom;A>C	264;0|8
N	N	-	3	38356868	38356868	T	C	snp	intronic	 	 	 	 	SLC22A14	Slc22a14	ENSG00000144671	solute carrier family 22 member 14	chr3:38323785-38360066	This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Tobacco Use Disorder; Hyperparathyroidism, Secondary	Mice homozygous for a knock-out allele exhibit severe male infertility associated with asthenozoospermia, impaired sperm capacitation, decreased fertilization frequency, abnormal sperm flagellar bending, and abnormal sperm annulus morphology.		GO:0015695;organic cation transport;NAS|GO:0015698;inorganic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;IBA|GO:0055085;transmembrane transport;IEA	GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005452;inorganic anion exchanger activity;IBA|GO:0015101;organic cation transmembrane transporter activity;NAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A14	https://www.uniprot.org/uniprot/Q9Y267		https://www.ncbi.nlm.nih.gov/omim/?term=604048	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A14&submit=Quick%0D%8642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A14	rs194705	0.602236	0	0	1	0	0	intronic	intronic	intronic	SLC22A14	SLC22A14	ENSG00000144671	Na	Na	Na	Na	Na	Na	Het;T>C	76;2|3	Hom;T>C	91;0|3
N	N	-	3	38442504	38442504	G	A	snp	nonsynonymous SNV	G1327A	A443T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	XYLB	Xylb	ENSG00000093217	xylulokinase	chr3:38388251-38462839	The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]	Electrocardiography; Tobacco Use Disorder	 	Catabolism of glucuronate to xylulose-5-phosphate	GO:0005975;carbohydrate metabolic process;TAS|GO:0005997;xylulose metabolic process;IDA|GO:0005998;xylulose catabolic process;TAS|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0016310;phosphorylation;IEA|GO:0019640;glucuronate catabolic process to xylulose 5-phosphate;TAS|GO:0042732;D-xylose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004856;xylulokinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA	http://www.genecards.org/index.php?path=/Search/keyword/XYLB	https://www.uniprot.org/uniprot/O75191		https://www.ncbi.nlm.nih.gov/omim/?term=604049	http://www.informatics.jax.org/searchtool/Search.do?query=XYLB&submit=Quick%0D%2219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XYLB	rs2234628	0.0928514	0.0442	0.0708	1	0	0	intronic	exonic	intronic	XYLB	XYLB	ENSG00000093217	Na	nonsynonymous SNV	Na	Na	XYLB:uc003cid.1:exon16:c.G1327A:p.A443T,	Na	Het;G>A	807;49|41	Hom;G>A	1997;0|73
N	N	-	3	38493859	38493859	C	T	snp	ncRNA_exonic	 	 	 	 	ACVR2B-AS1																		rs62239933	0.0932508	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ACVR2B-AS1	ACVR2B-AS1	ENSG00000229589	Na	Na	Na	Na	Na	Na	Het;C>T	981;47|46	Hom;C>T	1863;2|69
N	N	-	3	38494220	38494220	T	C	snp	ncRNA_exonic	 	 	 	 	ACVR2B-AS1																		rs1870914	0.55611	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ACVR2B-AS1	ACVR2B-AS1	ENSG00000229589	Na	Na	Na	Na	Na	Na	Het;T>C	312;23|16	Hom;T>C	1179;0|42
N	N	-	3	38496301	38496301	C	T	snp	ncRNA_exonic	 	 	 	 	ACVR2B-AS1																		rs3749388	0.0834665	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ACVR2B-AS1	ACVR2B-AS1	ENSG00000229589	Na	Na	Na	Na	Na	Na	Het;C>T	509;43|28	Hom;C>T	1736;0|63
N	N	-	3	38519424	38519424	A	G	snp	synonymous SNV	A333G	E111E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs2070489	0.480431	0.5228	0.5683	1	0	0	exonic	exonic	exonic	ACVR2B	ACVR2B	ENSG00000114739	synonymous SNV	synonymous SNV	unknown	ACVR2B:NM_001106:exon3:c.A333G:p.E111E,	ACVR2B:uc003cif.3:exon3:c.A333G:p.E111E,	UNKNOWN	Het;A>G	1108;61|57	Hom;A>G	2139;0|78
N	N	-	3	38521425	38521425	C	T	snp	intronic	 	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs4407366	0.616813	0	0	1	0	0	intronic	intronic	intronic	ACVR2B	ACVR2B	ENSG00000114739	Na	Na	Na	Na	Na	Na	Het;C>T	603;19|24	Hom;C>T	1201;0|38
N	N	-	3	38525588	38525588	G	A	snp	UTR3	*765G>A	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs12636077	0.0938498	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*765G>A)	ACVR2B(uc003cif.3:c.*765G>A,uc003cig.3:c.*765G>A)	ENSG00000114739(ENST00000352511:c.*765G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	572;20|24	Hom;G>A	1085;0|37
N	N	-	3	38525734	38525734	C	T	snp	UTR3	*911C>T	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs6599204	0.610224	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*911C>T)	ACVR2B(uc003cif.3:c.*911C>T,uc003cig.3:c.*911C>T)	ENSG00000114739(ENST00000352511:c.*911C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	462;24|23	Hom;C>T	1345;0|48
N	N	-	3	38527103	38527103	A	G	snp	UTR3	*2280A>G	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs17037775	0.0938498	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*2280A>G)	ACVR2B(uc003cif.3:c.*2280A>G,uc003cig.3:c.*2280A>G)	ENSG00000114739(ENST00000352511:c.*2280A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	794;35|36	Hom;A>G	1932;0|73
N	N	-	3	38527723	38527723	T	C	snp	UTR3	*2900T>C	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs62239939	0.0902556	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*2900T>C)	ACVR2B(uc003cif.3:c.*2900T>C,uc003cig.3:c.*2900T>C)	ENSG00000114739(ENST00000352511:c.*2900T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1132;62|56	Hom;T>C	2451;0|84
N	N	-	3	38527913	38527913	C	T	snp	UTR3	*3090C>T	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs11926767	0.616214	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*3090C>T)	ACVR2B(uc003cif.3:c.*3090C>T,uc003cig.3:c.*3090C>T)	ENSG00000114739(ENST00000352511:c.*3090C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	394;78|29	Hom;C>T	2864;0|110
N	N	-	3	38530079	38530079	A	G	snp	UTR3	*5256A>G	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs62239941	0.0938498	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*5256A>G)	ACVR2B(uc003cif.3:c.*5256A>G,uc003cig.3:c.*5256A>G)	ENSG00000114739(ENST00000352511:c.*5256A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	520;28|23	Hom;A>G	934;2|38
N	N	-	3	38531211	38531211	T	G	snp	UTR3	*6388T>G	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs7374458	0.447284	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*6388T>G)	ACVR2B(uc003cif.3:c.*6388T>G,uc003cig.3:c.*6388T>G)	ENSG00000114739(ENST00000352511:c.*6388T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	52;8|3	Hom;T>G	431;0|16
N	N	-	3	38531771	38531771	G	A	snp	UTR3	*6948G>A	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs62241768	0.0938498	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*6948G>A)	ACVR2B(uc003cif.3:c.*6948G>A,uc003cig.3:c.*6948G>A)	ENSG00000114739(ENST00000352511:c.*6948G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	499;34|26	Hom;G>A	1077;2|42
N	N	-	3	38533335	38533335	A	C	snp	UTR3	*8512A>C	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs13072731	0.447284	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*8512A>C)	ACVR2B(uc003cif.3:c.*8512A>C,uc003cig.3:c.*8512A>C)	ENSG00000114739(ENST00000352511:c.*8512A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	447;49|24	Hom;A>C	1530;0|54
N	N	-	3	38534140	38534140	A	AT	indel	UTR3	*9317A>AT	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs150324551	0	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*9317A>AT)	ACVR2B(uc003cif.3:c.*9317A>AT,uc003cig.3:c.*9317A>AT)	ENSG00000114739(ENST00000352511:c.*9317A>AT)	Na	Na	Na	Na	Na	Na	Het;+T	94;7|5	Hom;+T	210;0|7
N	N	-	3	38534296	38534296	T	C	snp	UTR3	*9473T>C	 	 	 	ACVR2B	Acvr2b	ENSG00000114739	activin A receptor type 2B	chr3:38495342-38534633	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Hyperparathyroidism, Secondary; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Left-right axis malformations	Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.	Signaling by BMP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001501;skeletal system development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001822;kidney development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007389;pattern specification process;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009749;response to glucose;IEA|GO:0009791;post-embryonic development;IEA|GO:0009952;anterior/posterior pattern specification;IMP|GO:0009966;regulation of signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030073;insulin secretion;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0031016;pancreas development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0032927;positive regulation of activin receptor signaling pathway;IDA|GO:0035265;organ growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060836;lymphatic endothelial cell differentiation;IEA|GO:0060840;artery development;IEA|GO:0060841;venous blood vessel development;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IPI	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016362;activin receptor activity, type II;TAS|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACVR2B	https://www.uniprot.org/uniprot/Q13705	https://hpo.jax.org/app/browse/search?q=ACVR2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602730	http://www.informatics.jax.org/searchtool/Search.do?query=ACVR2B&submit=Quick%0D%4495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR2B	rs62241769	0	0	0	1	0	0	UTR3	UTR3	UTR3	ACVR2B(NM_001106:c.*9473T>C)	ACVR2B(uc003cif.3:c.*9473T>C,uc003cig.3:c.*9473T>C)	ENSG00000114739(ENST00000352511:c.*9473T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	32;4|2	Hom;T>C	92;0|3
N	N	-	3	38590275	38590275	A	G	snp	UTR3	*1537T>C	 	 	 	SCN5A	Scn5a	ENSG00000183873	sodium voltage-gated channel alpha subunit 5	chr3:38589548-38691164	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Death, Sudden|Sudden Infant Death; Arrhythmias, Cardiac|Sudden Infant Death; Cardiovascular Diseases; Arrhythmias, Cardiac|Myocardial Infarction; QT interval; Long QT Syndrome|Sinus Tachycardia|Tachycardia, Sinus; inherited cardiac arrhythmia long QT syndrome; Congenital sick sinus syndrome; Brugada Syndrome|Recurrence|Shock|Ventricular Fibrillation; gastrointestinal symptoms; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; diabetes, type 1 ; Arrhythmias, Cardiac|Heart Failure|Hypertrophy, Left Ventricular; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Electrocardiography; Brugada Syndrome|Ventricular Fibrillation|Ventricular Premature Complexes; Type 2 Diabetes| edema | rosiglitazone; cardiac conduction disturbances and degenerative changes; myocardial infarct; Electrocardiographic conduction measures; Diabetes Mellitus, Type 2|Long QT Syndrome; Death, Sudden, Cardiac|Sudden Cardiac Death; cardiac death; dilated cardiomyopathy; Drug-induced long-QT syndrome; Brugada Syndrome|Death, Sudden, Cardiac|Sudden Cardiac Death; thyrotoxic periodic paralysis; early onset of sudden infant death.; Brugada syndrome; Brugada Syndrome|; Irritable Bowel Syndrome; Arrhythmias, Cardiac|Long QT Syndrome; Long QT Syndrome; Atrial Fibrillation|; Migraine without Aura; Sudden Infant Death; resting heart rate; Death, Sudden; Arrhythmias, Cardiac|Brugada Syndrome|Cardiomyopathies|Channelopathies|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|; long QT syndrome; null; Atrioventricular Block|Death, Sudden|Syncope|Torsades de Pointes; atrial fibrillation; Brugada Syndrome|Chromosome Deletion|Death, Sudden, Cardiac|Long QT Syndrome|Sudden Cardiac Death; Heart Function Tests; Atrial Fibrillation|Brugada Syndrome|Tachycardia, Ventricular; Tobacco Use Disorder; SIDS/sudden infant death syndrome; Atrial Fibrillation|Brugada Syndrome; cardiac arrhythmias and sudden death; Myocardial Infarction|Ventricular Fibrillation; long-QT syndrome; Arrhythmias, Cardiac|Brugada Syndrome|Death, Sudden, Cardiac; Arrhythmias, Cardiac|Cardiovascular Diseases; Brugada Syndrome; EKG, abnormal; Atrial Fibrillation|Heart Diseases; arrhythmia, cardiac; Long QT Syndrome|Sudden Infant Death; depression | long QT syndrome; atriventricular block long QT syndrome; HIV tuberculosis; PR interval	Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.	Phase 0 - rapid depolarisation	GO:0002027;regulation of heart rate;IMP|GO:0003231;cardiac ventricle development;ISS|GO:0003360;brainstem development;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0010765;positive regulation of sodium ion transport;IDA|GO:0014894;response to denervation involved in regulation of muscle adaptation;ISS|GO:0019228;neuronal action potential;IBA|GO:0021537;telencephalon development;ISS|GO:0021549;cerebellum development;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0045760;positive regulation of action potential;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0051899;membrane depolarization;IDA|GO:0055085;transmembrane transport;IEA|GO:0060048;cardiac muscle contraction;IMP|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IMP|GO:0060372;regulation of atrial cardiac muscle cell membrane repolarization;IMP|GO:0060373;regulation of ventricular cardiac muscle cell membrane depolarization;IMP|GO:0061337;cardiac conduction;TAS|GO:0071277;cellular response to calcium ion;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086004;regulation of cardiac muscle cell contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086010;membrane depolarization during action potential;IDA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086014;atrial cardiac muscle cell action potential;IMP|GO:0086015;SA node cell action potential;IMP|GO:0086016;AV node cell action potential;IMP|GO:0086043;bundle of His cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086046;membrane depolarization during SA node cell action potential;IMP|GO:0086047;membrane depolarization during Purkinje myocyte cell action potential;IMP|GO:0086048;membrane depolarization during bundle of His cell action potential;IMP|GO:0086067;AV node cell to bundle of His cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP|GO:1902305;regulation of sodium ion transmembrane transport;IDA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IDA|GO:0009986;cell surface;IDA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;TAS|GO:0030018;Z disc;IDA|GO:0030315;T-tubule;IDA|GO:0042383;sarcolemma;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0017134;fibroblast growth factor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0044325;ion channel binding;IPI|GO:0050998;nitric-oxide synthase binding;IPI|GO:0086006;voltage-gated sodium channel activity involved in cardiac muscle cell action potential;IDA|GO:0086060;voltage-gated sodium channel activity involved in AV node cell action potential;IMP|GO:0086061;voltage-gated sodium channel activity involved in bundle of His cell action potential;IMP|GO:0086062;voltage-gated sodium channel activity involved in Purkinje myocyte action potential;IMP|GO:0086063;voltage-gated sodium channel activity involved in SA node cell action potential;IMP|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCN5A		https://hpo.jax.org/app/browse/search?q=SCN5A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600163	http://www.informatics.jax.org/searchtool/Search.do?query=SCN5A&submit=Quick%0D%15100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN5A	rs41315485	0.179513	0	0	1	0	0	UTR3	UTR3	UTR3	SCN5A(NM_001099405:c.*1537T>C,NM_001160161:c.*1537T>C,NM_001160160:c.*1537T>C,NM_001099404:c.*1537T>C,NM_000335:c.*1537T>C,NM_198056:c.*1537T>C)	SCN5A(uc021wvi.1:c.*1537T>C,uc021wvj.1:c.*1537T>C,uc021wvk.1:c.*1537T>C,uc021wvl.1:c.*1537T>C,uc021wvm.1:c.*1537T>C,uc021wvn.1:c.*1537T>C,uc021wvo.1:c.*1537T>C,uc021wvp.1:c.*1537T>C,uc021wvq.1:c.*3126T>C,uc021wvr.1:c.*3126T>C,uc021wvs.1:c.*3126T>C,uc021wvt.1:c.*3030T>C,uc021wvu.1:c.*3126T>C,uc021wvv.1:c.*3126T>C)	ENSG00000183873(ENST00000414099:c.*1537T>C,ENST00000425664:c.*1537T>C,ENST00000443581:c.*1537T>C,ENST00000451551:c.*1537T>C,ENST00000413689:c.*1537T>C,ENST00000423572:c.*1537T>C,ENST00000333535:c.*1537T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	659;58|34	Hom;A>G	1846;0|64
N	N	-	3	38591689	38591689	T	C	snp	UTR3	*123A>G	 	 	 	SCN5A	Scn5a	ENSG00000183873	sodium voltage-gated channel alpha subunit 5	chr3:38589548-38691164	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Death, Sudden|Sudden Infant Death; Arrhythmias, Cardiac|Sudden Infant Death; Cardiovascular Diseases; Arrhythmias, Cardiac|Myocardial Infarction; QT interval; Long QT Syndrome|Sinus Tachycardia|Tachycardia, Sinus; inherited cardiac arrhythmia long QT syndrome; Congenital sick sinus syndrome; Brugada Syndrome|Recurrence|Shock|Ventricular Fibrillation; gastrointestinal symptoms; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; diabetes, type 1 ; Arrhythmias, Cardiac|Heart Failure|Hypertrophy, Left Ventricular; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Electrocardiography; Brugada Syndrome|Ventricular Fibrillation|Ventricular Premature Complexes; Type 2 Diabetes| edema | rosiglitazone; cardiac conduction disturbances and degenerative changes; myocardial infarct; Electrocardiographic conduction measures; Diabetes Mellitus, Type 2|Long QT Syndrome; Death, Sudden, Cardiac|Sudden Cardiac Death; cardiac death; dilated cardiomyopathy; Drug-induced long-QT syndrome; Brugada Syndrome|Death, Sudden, Cardiac|Sudden Cardiac Death; thyrotoxic periodic paralysis; early onset of sudden infant death.; Brugada syndrome; Brugada Syndrome|; Irritable Bowel Syndrome; Arrhythmias, Cardiac|Long QT Syndrome; Long QT Syndrome; Atrial Fibrillation|; Migraine without Aura; Sudden Infant Death; resting heart rate; Death, Sudden; Arrhythmias, Cardiac|Brugada Syndrome|Cardiomyopathies|Channelopathies|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|; long QT syndrome; null; Atrioventricular Block|Death, Sudden|Syncope|Torsades de Pointes; atrial fibrillation; Brugada Syndrome|Chromosome Deletion|Death, Sudden, Cardiac|Long QT Syndrome|Sudden Cardiac Death; Heart Function Tests; Atrial Fibrillation|Brugada Syndrome|Tachycardia, Ventricular; Tobacco Use Disorder; SIDS/sudden infant death syndrome; Atrial Fibrillation|Brugada Syndrome; cardiac arrhythmias and sudden death; Myocardial Infarction|Ventricular Fibrillation; long-QT syndrome; Arrhythmias, Cardiac|Brugada Syndrome|Death, Sudden, Cardiac; Arrhythmias, Cardiac|Cardiovascular Diseases; Brugada Syndrome; EKG, abnormal; Atrial Fibrillation|Heart Diseases; arrhythmia, cardiac; Long QT Syndrome|Sudden Infant Death; depression | long QT syndrome; atriventricular block long QT syndrome; HIV tuberculosis; PR interval	Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.	Phase 0 - rapid depolarisation	GO:0002027;regulation of heart rate;IMP|GO:0003231;cardiac ventricle development;ISS|GO:0003360;brainstem development;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0010765;positive regulation of sodium ion transport;IDA|GO:0014894;response to denervation involved in regulation of muscle adaptation;ISS|GO:0019228;neuronal action potential;IBA|GO:0021537;telencephalon development;ISS|GO:0021549;cerebellum development;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0045760;positive regulation of action potential;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0051899;membrane depolarization;IDA|GO:0055085;transmembrane transport;IEA|GO:0060048;cardiac muscle contraction;IMP|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IMP|GO:0060372;regulation of atrial cardiac muscle cell membrane repolarization;IMP|GO:0060373;regulation of ventricular cardiac muscle cell membrane depolarization;IMP|GO:0061337;cardiac conduction;TAS|GO:0071277;cellular response to calcium ion;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086004;regulation of cardiac muscle cell contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086010;membrane depolarization during action potential;IDA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086014;atrial cardiac muscle cell action potential;IMP|GO:0086015;SA node cell action potential;IMP|GO:0086016;AV node cell action potential;IMP|GO:0086043;bundle of His cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086046;membrane depolarization during SA node cell action potential;IMP|GO:0086047;membrane depolarization during Purkinje myocyte cell action potential;IMP|GO:0086048;membrane depolarization during bundle of His cell action potential;IMP|GO:0086067;AV node cell to bundle of His cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP|GO:1902305;regulation of sodium ion transmembrane transport;IDA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IDA|GO:0009986;cell surface;IDA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;TAS|GO:0030018;Z disc;IDA|GO:0030315;T-tubule;IDA|GO:0042383;sarcolemma;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0017134;fibroblast growth factor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0044325;ion channel binding;IPI|GO:0050998;nitric-oxide synthase binding;IPI|GO:0086006;voltage-gated sodium channel activity involved in cardiac muscle cell action potential;IDA|GO:0086060;voltage-gated sodium channel activity involved in AV node cell action potential;IMP|GO:0086061;voltage-gated sodium channel activity involved in bundle of His cell action potential;IMP|GO:0086062;voltage-gated sodium channel activity involved in Purkinje myocyte action potential;IMP|GO:0086063;voltage-gated sodium channel activity involved in SA node cell action potential;IMP|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCN5A		https://hpo.jax.org/app/browse/search?q=SCN5A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600163	http://www.informatics.jax.org/searchtool/Search.do?query=SCN5A&submit=Quick%0D%15100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN5A	rs7429945	0.494409	0	0	1	0	0	UTR3	UTR3	UTR3	SCN5A(NM_001099405:c.*123A>G,NM_001160161:c.*123A>G,NM_001160160:c.*123A>G,NM_001099404:c.*123A>G,NM_000335:c.*123A>G,NM_198056:c.*123A>G)	SCN5A(uc021wvi.1:c.*123A>G,uc021wvj.1:c.*123A>G,uc021wvk.1:c.*123A>G,uc021wvl.1:c.*123A>G,uc021wvm.1:c.*123A>G,uc021wvn.1:c.*123A>G,uc021wvo.1:c.*123A>G,uc021wvp.1:c.*123A>G,uc021wvq.1:c.*1712A>G,uc021wvr.1:c.*1712A>G,uc021wvs.1:c.*1712A>G,uc021wvt.1:c.*1616A>G,uc021wvu.1:c.*1712A>G,uc021wvv.1:c.*1712A>G)	ENSG00000183873(ENST00000414099:c.*123A>G,ENST00000425664:c.*123A>G,ENST00000443581:c.*123A>G,ENST00000451551:c.*123A>G,ENST00000413689:c.*123A>G,ENST00000423572:c.*123A>G,ENST00000333535:c.*123A>G,ENST00000455624:c.*123A>G,ENST00000450102:c.*123A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1043;64|50	Hom;T>C	3353;0|124
N	N	-	3	38592406	38592406	A	G	snp	synonymous SNV	T5457C	D1819D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SCN5A	Scn5a	ENSG00000183873	sodium voltage-gated channel alpha subunit 5	chr3:38589548-38691164	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Death, Sudden|Sudden Infant Death; Arrhythmias, Cardiac|Sudden Infant Death; Cardiovascular Diseases; Arrhythmias, Cardiac|Myocardial Infarction; QT interval; Long QT Syndrome|Sinus Tachycardia|Tachycardia, Sinus; inherited cardiac arrhythmia long QT syndrome; Congenital sick sinus syndrome; Brugada Syndrome|Recurrence|Shock|Ventricular Fibrillation; gastrointestinal symptoms; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; diabetes, type 1 ; Arrhythmias, Cardiac|Heart Failure|Hypertrophy, Left Ventricular; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Electrocardiography; Brugada Syndrome|Ventricular Fibrillation|Ventricular Premature Complexes; Type 2 Diabetes| edema | rosiglitazone; cardiac conduction disturbances and degenerative changes; myocardial infarct; Electrocardiographic conduction measures; Diabetes Mellitus, Type 2|Long QT Syndrome; Death, Sudden, Cardiac|Sudden Cardiac Death; cardiac death; dilated cardiomyopathy; Drug-induced long-QT syndrome; Brugada Syndrome|Death, Sudden, Cardiac|Sudden Cardiac Death; thyrotoxic periodic paralysis; early onset of sudden infant death.; Brugada syndrome; Brugada Syndrome|; Irritable Bowel Syndrome; Arrhythmias, Cardiac|Long QT Syndrome; Long QT Syndrome; Atrial Fibrillation|; Migraine without Aura; Sudden Infant Death; resting heart rate; Death, Sudden; Arrhythmias, Cardiac|Brugada Syndrome|Cardiomyopathies|Channelopathies|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|; long QT syndrome; null; Atrioventricular Block|Death, Sudden|Syncope|Torsades de Pointes; atrial fibrillation; Brugada Syndrome|Chromosome Deletion|Death, Sudden, Cardiac|Long QT Syndrome|Sudden Cardiac Death; Heart Function Tests; Atrial Fibrillation|Brugada Syndrome|Tachycardia, Ventricular; Tobacco Use Disorder; SIDS/sudden infant death syndrome; Atrial Fibrillation|Brugada Syndrome; cardiac arrhythmias and sudden death; Myocardial Infarction|Ventricular Fibrillation; long-QT syndrome; Arrhythmias, Cardiac|Brugada Syndrome|Death, Sudden, Cardiac; Arrhythmias, Cardiac|Cardiovascular Diseases; Brugada Syndrome; EKG, abnormal; Atrial Fibrillation|Heart Diseases; arrhythmia, cardiac; Long QT Syndrome|Sudden Infant Death; depression | long QT syndrome; atriventricular block long QT syndrome; HIV tuberculosis; PR interval	Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.	Phase 0 - rapid depolarisation	GO:0002027;regulation of heart rate;IMP|GO:0003231;cardiac ventricle development;ISS|GO:0003360;brainstem development;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0010765;positive regulation of sodium ion transport;IDA|GO:0014894;response to denervation involved in regulation of muscle adaptation;ISS|GO:0019228;neuronal action potential;IBA|GO:0021537;telencephalon development;ISS|GO:0021549;cerebellum development;ISS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0045760;positive regulation of action potential;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0051899;membrane depolarization;IDA|GO:0055085;transmembrane transport;IEA|GO:0060048;cardiac muscle contraction;IMP|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IMP|GO:0060372;regulation of atrial cardiac muscle cell membrane repolarization;IMP|GO:0060373;regulation of ventricular cardiac muscle cell membrane depolarization;IMP|GO:0061337;cardiac conduction;TAS|GO:0071277;cellular response to calcium ion;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086004;regulation of cardiac muscle cell contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086010;membrane depolarization during action potential;IDA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086014;atrial cardiac muscle cell action potential;IMP|GO:0086015;SA node cell action potential;IMP|GO:0086016;AV node cell action potential;IMP|GO:0086043;bundle of His cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086046;membrane depolarization during SA node cell action potential;IMP|GO:0086047;membrane depolarization during Purkinje myocyte cell action potential;IMP|GO:0086048;membrane depolarization during bundle of His cell action potential;IMP|GO:0086067;AV node cell to bundle of His cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP|GO:1902305;regulation of sodium ion transmembrane transport;IDA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IDA|GO:0009986;cell surface;IDA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;TAS|GO:0030018;Z disc;IDA|GO:0030315;T-tubule;IDA|GO:0042383;sarcolemma;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0017134;fibroblast growth factor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0044325;ion channel binding;IPI|GO:0050998;nitric-oxide synthase binding;IPI|GO:0086006;voltage-gated sodium channel activity involved in cardiac muscle cell action potential;IDA|GO:0086060;voltage-gated sodium channel activity involved in AV node cell action potential;IMP|GO:0086061;voltage-gated sodium channel activity involved in bundle of His cell action potential;IMP|GO:0086062;voltage-gated sodium channel activity involved in Purkinje myocyte action potential;IMP|GO:0086063;voltage-gated sodium channel activity involved in SA node cell action potential;IMP|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCN5A		https://hpo.jax.org/app/browse/search?q=SCN5A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600163	http://www.informatics.jax.org/searchtool/Search.do?query=SCN5A&submit=Quick%0D%15100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN5A	rs1805126	0.492412	0.4314	0.3878	1	0	0	exonic	exonic	exonic	SCN5A	SCN5A	ENSG00000183873	synonymous SNV	synonymous SNV	unknown	SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,	SCN5A:uc021wvp.1:exon27:c.T5457C:p.D1819D,SCN5A:uc021wvl.1:exon26:c.T5295C:p.D1765D,SCN5A:uc021wvi.1:exon25:c.T5055C:p.D1685D,SCN5A:uc021wvn.1:exon27:c.T5454C:p.D1818D,SCN5A:uc021wvj.1:exon24:c.T4893C:p.D1631D,SCN5A:uc021wvo.1:exon27:c.T5457C:p.D1819D,SCN5A:uc021wvm.1:exon26:c.T5403C:p.D1801D,SCN5A:uc021wvk.1:exon27:c.T5358C:p.D1786D,	UNKNOWN	Het;A>G	1647;89|77	Hom;A>G	3849;2|137
N	N	-	3	386247	386247	C	T	snp	intronic	 	 	 	 	CHL1	Chl1	ENSG00000134121	cell adhesion molecule L1 like	chr3:238279-451090	The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]	Tobacco Use Disorder; Cleft Lip|Cleft Palate; epithelial ovarian cancer ; IQ; Death, Sudden, Cardiac; Hemoglobin A, Glycosylated; schizophrenia	Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior.	CHL1 interactions	GO:0001764;neuron migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0030154;cell differentiation;IEA|GO:0031103;axon regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0035640;exploration behavior;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0050890;cognition;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030425;dendrite;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHL1	https://www.uniprot.org/uniprot/O00533		https://www.ncbi.nlm.nih.gov/omim/?term=607416	http://www.informatics.jax.org/searchtool/Search.do?query=CHL1&submit=Quick%0D%6916ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHL1	rs3736632	0.284145	0.2622	0.3522	1	0	0	intronic	intronic	intronic	CHL1	CHL1	ENSG00000134121	Na	Na	Na	Na	Na	Na	Het;C>T	352;25|17	Hom;C>T	1174;0|42
N	N	-	3	38945560	38945560	A	G	snp	synonymous SNV	T1638C	C546C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	SCN11A	Scn11a	ENSG00000168356	sodium voltage-gated channel alpha subunit 11	chr3:38887260-38992052	Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004]	Hypertrophy, Left Ventricular	Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042493;response to drug;TAS|GO:0051930;regulation of sensory perception of pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0044299;C-fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN11A		https://hpo.jax.org/app/browse/search?q=SCN11A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604385	http://www.informatics.jax.org/searchtool/Search.do?query=SCN11A&submit=Quick%0D%12251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN11A	rs4073113	0.61242	0.6074	0.6515	1	0	0	exonic	exonic	exonic	SCN11A	SCN11A	ENSG00000168356	synonymous SNV	synonymous SNV	unknown	SCN11A:NM_001287223:exon13:c.T1638C:p.C546C,SCN11A:NM_014139:exon12:c.T1638C:p.C546C,	SCN11A:uc021wvy.1:exon12:c.T1638C:p.C546C,	UNKNOWN	Het;A>G	1476;68|63	Hom;A>G	3029;1|110
N	N	-	3	38967103	38967103	C	T	snp	intronic	 	 	 	 	SCN11A	Scn11a	ENSG00000168356	sodium voltage-gated channel alpha subunit 11	chr3:38887260-38992052	Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004]	Hypertrophy, Left Ventricular	Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042493;response to drug;TAS|GO:0051930;regulation of sensory perception of pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0044299;C-fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN11A		https://hpo.jax.org/app/browse/search?q=SCN11A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604385	http://www.informatics.jax.org/searchtool/Search.do?query=SCN11A&submit=Quick%0D%12251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN11A	rs4676474	0.450879	0	0	1	0	0	intronic	intronic	intronic	SCN11A	SCN11A	ENSG00000168356	Na	Na	Na	Na	Na	Na	Het;C>T	608;11|20	Hom;C>T	923;0|26
N	N	-	3	39166484	39166484	C	T	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784508	0.544329	0	0	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;C>T	154;7|8	Hom;C>T	438;0|15
N	N	-	3	39166509	39166509	A	G	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784507	0.825879	0.8185	0.8625	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;A>G	309;12|14	Hom;A>G	518;0|17
N	N	-	3	39167905	39167905	G	A	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784506	0.91254	0.8960	0.8850	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;G>A	660;38|32	Hom;G>A	1640;0|58
N	N	-	3	39169693	39169693	A	G	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs1298712	0.560503	0	0	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;A>G	105;5|4	Hom;A>G	397;0|10
N	N	-	3	39169712	39169712	T	C	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs1274969	0.560503	0	0	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;T>C	166;7|6	Hom;T>C	586;0|16
N	N	-	3	39170090	39170090	C	T	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs1274968	0.544728	0	0	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;C>T	73;8|4	Hom;C>T	109;0|4
N	N	-	3	39174437	39174437	T	A	snp	UTR5	-160T>A	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs35628459	0.558706	0	0	1	0	0	intronic	UTR5	intronic	TTC21A	TTC21A(uc011ayy.2:c.-160T>A,uc003cjf.2:c.-160T>A)	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;T>A	218;2|6	Hom;T>A	232;0|5
N	N	-	3	39174438	39174438	G	GA	indel	UTR5	-159G>GA	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs11381961	0.558706	0	0	1	0	0	intronic	UTR5	intronic	TTC21A	TTC21A(uc011ayy.2:c.-159G>GA,uc003cjf.2:c.-159G>GA)	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;+A	209;2|6	Hom;+A	223;0|5
N	N	-	3	39174462	39174462	T	C	snp	UTR5	-135T>C	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784491	0.682508	0	0	1	0	0	intronic	UTR5	intronic	TTC21A	TTC21A(uc011ayy.2:c.-135T>C,uc003cjf.2:c.-135T>C)	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;T>C	152;3|6	Hom;T>C	270;0|8
N	N	-	3	39175576	39175576	G	T	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784492	0.666334	0	0	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;G>T	203;1|7	Hom;G>T	111;0|4
N	N	-	3	39178238	39178238	A	C	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784494	0.911142	0	0	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;A>C	40;2|2	Hom;A>C	99;0|4
N	N	-	3	39178899	39178899	C	T	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784495	0.480631	0.4846	0.6235	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;C>T	1001;73|53	Hom;C>T	3413;0|124
N	N	-	3	39179909	39179909	G	A	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784497	0.533546	0.5286	0.6321	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;G>A	869;39|42	Hom;G>A	1693;0|59
N	N	-	3	39180099	39180099	T	C	snp	synonymous SNV	T1233C	I411I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs784498	0.706869	0.7042	0.7502	1	0	0	exonic	exonic	exonic	TTC21A	TTC21A	ENSG00000168026	synonymous SNV	synonymous SNV	unknown	TTC21A:NM_001105513:exon27:c.T3726C:p.I1242I,TTC21A:NM_145755:exon28:c.T3870C:p.I1290I,	TTC21A:uc031ryv.1:exon10:c.T1233C:p.I411I,TTC21A:uc003cjf.2:exon9:c.T1233C:p.I411I,TTC21A:uc011ayx.1:exon27:c.T3726C:p.I1242I,TTC21A:uc003cjc.2:exon28:c.T3870C:p.I1290I,	UNKNOWN	Het;T>C	1030;66|53	Hom;T>C	2666;0|91
N	N	-	3	39180162	39180162	A	C	snp	intronic	 	 	 	 	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs811969	0.553714	0.5493	0.6564	1	0	0	intronic	intronic	intronic	TTC21A	TTC21A	ENSG00000168026	Na	Na	Na	Na	Na	Na	Het;A>C	1038;81|56	Hom;A>C	3297;0|114
N	N	-	3	39180263	39180263	G	A	snp	nonsynonymous SNV	G3803A	R1268K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TTC21A	Ttc21a	ENSG00000168026	tetratricopeptide repeat domain 21A	chr3:39149152-39180394		Thyrotropin	Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TTC21A			https://www.ncbi.nlm.nih.gov/omim/?term=611430	http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A	rs704959	0.546126	0.5351	0.6450	0.23	3	13	exonic	exonic	exonic	TTC21A	TTC21A	ENSG00000168026	nonsynonymous SNV	nonsynonymous SNV	unknown	TTC21A:NM_001105513:exon28:c.G3803A:p.R1268K,TTC21A:NM_145755:exon29:c.G3947A:p.R1316K,	TTC21A:uc031ryv.1:exon11:c.G1310A:p.R437K,TTC21A:uc003cjf.2:exon10:c.G1310A:p.R437K,TTC21A:uc011ayx.1:exon28:c.G3803A:p.R1268K,TTC21A:uc003cjc.2:exon29:c.G3947A:p.R1316K,	UNKNOWN	Het;G>A	840;47|41	Hom;G>A	2078;0|73
N	N	-	3	39184959	39184959	C	T	snp	nonsynonymous SNV	G1357A	V453I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CSRNP1	Csrnp1	ENSG00000144655	cysteine and serine rich nuclear protein 1	chr3:39183346-39196053	This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Diabetes Mellitus	Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSRNP1	https://www.uniprot.org/uniprot/Q96S65		https://www.ncbi.nlm.nih.gov/omim/?term=606458	http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP1&submit=Quick%0D%8639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP1	rs1274958	0.784545	0.7709	0.7698	0.08	1	13	exonic	exonic	exonic	CSRNP1	CSRNP1	ENSG00000144655	nonsynonymous SNV	nonsynonymous SNV	unknown	CSRNP1:NM_033027:exon5:c.G1357A:p.V453I,	CSRNP1:uc003cjh.3:exon5:c.G1357A:p.V453I,CSRNP1:uc003cjg.3:exon5:c.G1357A:p.V453I,	UNKNOWN	Het;C>T	694;77|38	Hom;C>T	1836;0|65
N	N	-	3	39185077	39185077	G	A	snp	synonymous SNV	C1239T	S413S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CSRNP1	Csrnp1	ENSG00000144655	cysteine and serine rich nuclear protein 1	chr3:39183346-39196053	This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Diabetes Mellitus	Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSRNP1	https://www.uniprot.org/uniprot/Q96S65		https://www.ncbi.nlm.nih.gov/omim/?term=606458	http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP1&submit=Quick%0D%8639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP1	rs1274957	0.491214	0.4970	0.6099	1	0	0	exonic	exonic	exonic	CSRNP1	CSRNP1	ENSG00000144655	synonymous SNV	synonymous SNV	unknown	CSRNP1:NM_033027:exon5:c.C1239T:p.S413S,	CSRNP1:uc003cjh.3:exon5:c.C1239T:p.S413S,CSRNP1:uc003cjg.3:exon5:c.C1239T:p.S413S,	UNKNOWN	Het;G>A	1387;73|64	Hom;G>A	3663;0|128
N	N	-	3	39185248	39185248	A	G	snp	synonymous SNV	T1068C	S356S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CSRNP1	Csrnp1	ENSG00000144655	cysteine and serine rich nuclear protein 1	chr3:39183346-39196053	This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Diabetes Mellitus	Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSRNP1	https://www.uniprot.org/uniprot/Q96S65		https://www.ncbi.nlm.nih.gov/omim/?term=606458	http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP1&submit=Quick%0D%8639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP1	rs784519	0.908946	0.8935	0.8847	1	0	0	exonic	exonic	exonic	CSRNP1	CSRNP1	ENSG00000144655	synonymous SNV	synonymous SNV	unknown	CSRNP1:NM_033027:exon5:c.T1068C:p.S356S,	CSRNP1:uc003cjh.3:exon5:c.T1068C:p.S356S,CSRNP1:uc003cjg.3:exon5:c.T1068C:p.S356S,	UNKNOWN	Het;A>G	2013;73|86	Hom;A>G	4447;0|162
N	N	-	3	39185968	39185968	A	G	snp	intronic	 	 	 	 	CSRNP1	Csrnp1	ENSG00000144655	cysteine and serine rich nuclear protein 1	chr3:39183346-39196053	This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Diabetes Mellitus	Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSRNP1	https://www.uniprot.org/uniprot/Q96S65		https://www.ncbi.nlm.nih.gov/omim/?term=606458	http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP1&submit=Quick%0D%8639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP1	rs810743	0.761382	0.7470	0.7619	1	0	0	intronic	intronic	intronic	CSRNP1	CSRNP1	ENSG00000144655	Na	Na	Na	Na	Na	Na	Het;A>G	456;16|19	Hom;A>G	1288;0|39
N	N	-	3	39186038	39186038	C	G	snp	intronic	 	 	 	 	CSRNP1	Csrnp1	ENSG00000144655	cysteine and serine rich nuclear protein 1	chr3:39183346-39196053	This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Diabetes Mellitus	Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA	GO:0005634;nucleus;IEA	GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSRNP1	https://www.uniprot.org/uniprot/Q96S65		https://www.ncbi.nlm.nih.gov/omim/?term=606458	http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP1&submit=Quick%0D%8639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP1	rs784518	0.478834	0	0	1	0	0	intronic	intronic	intronic	CSRNP1	CSRNP1	ENSG00000144655	Na	Na	Na	Na	Na	Na	Het;C>G	40;3|2	Hom;C>G	178;0|5
N	N	-	3	41925260	41925277	CAGAGAAAAAACAAGTGA	C	indel	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs113374533	0.679513	0	0	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;-AGAGAAAAAACAAGTGA	110;7|4	Hom;-AGAGAAAAAACAAGTGA	684;0|16
N	N	-	3	41925301	41925301	T	C	snp	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs1716685	0.688498	0	0	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;T>C	215;17|10	Hom;T>C	903;0|29
N	N	-	3	41925398	41925398	C	T	snp	nonsynonymous SNV	G1624A	A542T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs1052501	0.688498	0.6831	0.7885	0.08	1	13	exonic	exonic	exonic	ULK4	ULK4	ENSG00000168038	nonsynonymous SNV	nonsynonymous SNV	unknown	ULK4:NM_017886:exon17:c.G1624A:p.A542T,	ULK4:uc003ckw.2:exon17:c.G1624A:p.A542T,ULK4:uc003ckx.1:exon17:c.G1624A:p.A542T,ULK4:uc003ckv.4:exon17:c.G1624A:p.A542T,	UNKNOWN	Het;C>T	1296;75|67	Hom;C>T	3932;2|152
N	N	-	3	41937000	41937000	C	T	snp	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs1717003	0.688099	0.6731	0.7785	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;C>T	563;21|28	Hom;C>T	1103;0|44
N	N	-	3	41939993	41939993	T	A	snp	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs1625226	0.698083	0	0.9546	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;T>A	467;4|23	Hom;T>A	785;0|30
N	N	-	3	41942199	41942199	T	C	snp	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs1717007	0.681909	0.6783	0.7871	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;T>C	2626;116|109	Hom;T>C	6774;2|233
N	N	-	3	41957466	41957466	T	G	snp	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs1716698	0.68131	0.6756	0.7865	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;T>G	292;13|15	Hom;T>G	848;0|33
N	N	-	3	41960006	41960006	T	C	snp	nonsynonymous SNV	A670G	I224V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs1716975	0.679912	0.6747	0.7847	0.08	1	13	exonic	exonic	exonic	ULK4	ULK4	ENSG00000168038	nonsynonymous SNV	nonsynonymous SNV	unknown	ULK4:NM_017886:exon7:c.A670G:p.I224V,	ULK4:uc003ckw.2:exon7:c.A670G:p.I224V,ULK4:uc003ckx.1:exon7:c.A670G:p.I224V,ULK4:uc003ckv.4:exon7:c.A670G:p.I224V,	UNKNOWN	Het;T>C	436;29|24	Hom;T>C	1179;0|45
N	N	-	3	41977214	41977214	C	T	snp	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs3934103	0.738818	0	0	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;C>T	388;8|17	Hom;C>T	793;0|27
N	N	-	3	41977488	41977490	CCT	C	indel	intronic	 	 	 	 	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs58069203	0.729433	0	0	1	0	0	intronic	intronic	intronic	ULK4	ULK4	ENSG00000168038	Na	Na	Na	Na	Na	Na	Het;-CT	773;22|21	Hom;-CT	1358;0|31
N	N	-	3	41996136	41996136	T	C	snp	nonsynonymous SNV	A116G	K39R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ULK4	Ulk4	ENSG00000168038	unc-51 like kinase 4	chr3:41288090-42003922	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]	Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein	Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow.		GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP		GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ULK4			https://www.ncbi.nlm.nih.gov/omim/?term=617010	http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4	rs2272007	0.682109	0.6784	0.7869	0.31	4	13	exonic	exonic	exonic	ULK4	ULK4	ENSG00000168038	nonsynonymous SNV	nonsynonymous SNV	unknown	ULK4:NM_017886:exon2:c.A116G:p.K39R,	ULK4:uc003ckw.2:exon2:c.A116G:p.K39R,ULK4:uc003ckx.1:exon2:c.A116G:p.K39R,ULK4:uc003ckv.4:exon2:c.A116G:p.K39R,	UNKNOWN	Het;T>C	671;19|30	Hom;T>C	944;0|31
N	N	-	3	42019565	42019565	C	T	snp	downstream	 	 	 	 	GEMIN2P2																		rs7634985	0.713858	0	0	1	0	0	intergenic	intergenic	downstream	ULK4(dist=15905),TRAK1(dist=113181)	ULK4(dist=15905),TRAK1(dist=113181)	ENSG00000235339	Na	Na	Na	Na	Na	Na	Het;C>T	150;9|8	Hom;C>T	565;0|21
N	N	-	3	42053899	42053899	G	A	snp	intergenic	 	 	 	 	GEMIN2P2																		rs704964	0.714856	0	0	1	0	0	intergenic	intergenic	intergenic	ULK4(dist=50239),TRAK1(dist=78847)	ULK4(dist=50239),TRAK1(dist=78847)	ENSG00000235339(dist=34373),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	1894;89|93	Hom;G>A	4268;0|162
N	N	-	3	42363369	42363369	C	T	snp	ncRNA_exonic	 	 	 	 	SALL4P6																		rs17223780	0.203874	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CCK(dist=55707),LYZL4(dist=75201)	CCK(dist=55707),LYZL4(dist=75206)	ENSG00000231280	Na	Na	Na	Na	Na	Na	Het;C>T	60;7|4	Hom;C>T	414;0|16
N	N	-	3	42445679	42445679	C	A	snp	intronic	 	 	 	 	LYZL4	Lyzl4	ENSG00000157093	lysozyme like 4	chr3:42438570-42452092	Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009]	Intuition	Male mice homozygous for a mutation are viable and show normal fertility.		GO:0007338;single fertilization;IEA|GO:0009566;fertilization;ISS	GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005634;nucleus;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;ISS|GO:0042995;cell projection;IEA	GO:0003796;lysozyme activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYZL4			https://www.ncbi.nlm.nih.gov/omim/?term=612750	http://www.informatics.jax.org/searchtool/Search.do?query=LYZL4&submit=Quick%0D%10053ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZL4	rs40416	0.184704	0.2792	0	1	0	0	intronic	intronic	intronic	LYZL4	LYZL4	ENSG00000157093	Na	Na	Na	Na	Na	Na	Het;C>A	455;16|21	Hom;C>A	1172;0|40
N	N	-	3	42598980	42598980	C	T	snp	intronic	 	 	 	 	SEC22C	Sec22c	ENSG00000093183	SEC22 homolog C, vesicle trafficking protein	chr3:42589461-42642572	This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		 	COPII (Coat Protein 2) Mediated Vesicle Transport	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048280;vesicle fusion with Golgi apparatus;IBA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEC22C	https://www.uniprot.org/uniprot/Q9BRL7		https://www.ncbi.nlm.nih.gov/omim/?term=604028	http://www.informatics.jax.org/searchtool/Search.do?query=SEC22C&submit=Quick%0D%2218ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC22C	rs2271181	0.469249	0	0	1	0	0	intronic	intronic	intronic	SEC22C	SEC22C	ENSG00000093183	Na	Na	Na	Na	Na	Na	Het;C>T	65;5|3	Hom;C>T	332;0|10
N	N	-	3	42599234	42599234	C	T	snp	intronic	 	 	 	 	SEC22C	Sec22c	ENSG00000093183	SEC22 homolog C, vesicle trafficking protein	chr3:42589461-42642572	This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		 	COPII (Coat Protein 2) Mediated Vesicle Transport	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048280;vesicle fusion with Golgi apparatus;IBA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEC22C	https://www.uniprot.org/uniprot/Q9BRL7		https://www.ncbi.nlm.nih.gov/omim/?term=604028	http://www.informatics.jax.org/searchtool/Search.do?query=SEC22C&submit=Quick%0D%2218ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC22C	rs2271185	0.535343	0.4559	0.3923	1	0	0	intronic	intronic	intronic	SEC22C	SEC22C	ENSG00000093183	Na	Na	Na	Na	Na	Na	Het;C>T	361;25|18	Hom;C>T	1187;0|44
N	N	-	3	42610374	42610374	A	G	snp	synonymous SNV	T165C	G55G	aliphatic,neutral	aliphatic,neutral	SEC22C	Sec22c	ENSG00000093183	SEC22 homolog C, vesicle trafficking protein	chr3:42589461-42642572	This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]		 	COPII (Coat Protein 2) Mediated Vesicle Transport	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048280;vesicle fusion with Golgi apparatus;IBA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEC22C	https://www.uniprot.org/uniprot/Q9BRL7		https://www.ncbi.nlm.nih.gov/omim/?term=604028	http://www.informatics.jax.org/searchtool/Search.do?query=SEC22C&submit=Quick%0D%2218ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC22C	rs2271186	0.535942	0.4509	0.3926	1	0	0	exonic	exonic	exonic	SEC22C	SEC22C	ENSG00000093183	synonymous SNV	synonymous SNV	unknown	SEC22C:NM_001201584:exon2:c.T165C:p.G55G,SEC22C:NM_001201572:exon2:c.T165C:p.G55G,SEC22C:NM_032970:exon2:c.T165C:p.G55G,SEC22C:NM_004206:exon2:c.T165C:p.G55G,	SEC22C:uc003clj.3:exon2:c.T165C:p.G55G,SEC22C:uc010hic.3:exon2:c.T165C:p.G55G,SEC22C:uc003cli.3:exon2:c.T165C:p.G55G,SEC22C:uc003clh.3:exon2:c.T165C:p.G55G,	UNKNOWN	Het;A>G	1245;76|61	Hom;A>G	3409;0|121
N	N	-	3	42653858	42653858	T	A	snp	ncRNA_exonic	 	 	 	 	LOC101928323																		rs689251	0.547125	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101928323	NKTR	ENSG00000230084	Na	Na	Na	Na	Na	Na	Het;T>A	665;31|32	Hom;T>A	1348;0|50
N	N	-	3	42700630	42700630	A	G	snp	synonymous SNV	A783G	P261P	hydrophobic,neutral	hydrophobic,neutral	ZBTB47	Zfp651	ENSG00000114853	zinc finger and BTB domain containing 47	chr3:42695176-42709072			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB47	https://www.uniprot.org/uniprot/Q9UFB7			http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB47&submit=Quick%0D%4511ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB47	rs339723	0.550319	0.4520	0.4917	1	0	0	exonic	exonic	exonic	ZBTB47	ZBTB47	ENSG00000114853	synonymous SNV	synonymous SNV	unknown	ZBTB47:NM_145166:exon2:c.A783G:p.P261P,	ZBTB47:uc003clu.2:exon2:c.A783G:p.P261P,	UNKNOWN	Het;A>G	468;29|23	Hom;A>G	1279;0|43
N	N	-	3	42954912	42954912	C	T	snp	intronic	 	 	 	 	ZNF662	 	ENSG00000182983	zinc finger protein 662	chr3:42947223-42960825		Sleep	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF662				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF662&submit=Quick%0D%14894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF662	rs11129987	0.759784	0	0	1	0	0	intronic	intronic	intronic	ZNF662	ZNF662	ENSG00000182983,ENSG00000240747	Na	Na	Na	Na	Na	Na	Het;C>T	234;7|9	Hom;C>T	631;0|22
N	N	-	3	42976817	42976817	A	G	snp	ncRNA_exonic	 	 	 	 	KRBOX1-AS1																		rs17388512	0.19389	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	KRBOX1-AS1	ZNF662(dist=15992),KRBOX1(dist=1017)	ENSG00000206552	Na	Na	Na	Na	Na	Na	Het;A>G	785;23|34	Hom;A>G	3123;0|110
N	N	-	3	42977436	42977436	T	C	snp	ncRNA_exonic	 	 	 	 	KRBOX1-AS1																		rs2288370	0.266973	0	0	1	0	0	ncRNA_exonic	upstream	ncRNA_exonic	KRBOX1-AS1	KRBOX1	ENSG00000206552	Na	Na	Na	Na	Na	Na	Het;T>C	1300;52|51	Hom;T>C	3546;0|130
N	N	-	3	42977561	42977561	T	G	snp	ncRNA_exonic	 	 	 	 	KRBOX1-AS1																		rs865842	0.568091	0	0	1	0	0	ncRNA_exonic	upstream	ncRNA_exonic	KRBOX1-AS1	KRBOX1	ENSG00000206552	Na	Na	Na	Na	Na	Na	Het;T>G	2459;110|108	Hom;T>G	5030;0|179
N	N	-	3	43095245	43095245	A	G	snp	nonsynonymous SNV	A1442G	Q481R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	FAM198A	Fam198a	ENSG00000144649	family with sequence similarity 198 member A	chr3:43020759-43101703		Tobacco Use Disorder	 			GO:0005576;extracellular region;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FAM198A	https://www.uniprot.org/uniprot/Q9UFP1			http://www.informatics.jax.org/searchtool/Search.do?query=FAM198A&submit=Quick%0D%8638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM198A	rs2280565	0.319489	0	0.4827	1	0	0	intronic	exonic	intronic	FAM198A	FAM198A	ENSG00000144649,ENSG00000273291	Na	nonsynonymous SNV	Na	Na	FAM198A:uc010hih.3:exon3:c.A1442G:p.Q481R,FAM198A:uc010hii.3:exon2:c.A236G:p.Q79R,	Na	Het;A>G	360;18|13	Hom;A>G	592;0|18
N	N	-	3	4404087	4404087	A	G	snp	intronic	 	 	 	 	SUMF1	Sumf1	ENSG00000144455	sulfatase modifying factor 1	chr3:3742498-4508965	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	multiple sclerosis; Multiple Sclerosis; Cholesterol, LDL; Blood Pressure	Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration.	The activation of arylsulfatases	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0043687;post-translational protein modification;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0016491;oxidoreductase activity;TAS|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUMF1	https://www.uniprot.org/uniprot/Q8NBK3	https://hpo.jax.org/app/browse/search?q=SUMF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607939	http://www.informatics.jax.org/searchtool/Search.do?query=SUMF1&submit=Quick%0D%8609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUMF1	rs2819560	0.704273	0	0	1	0	0	intronic	intronic	intronic	SUMF1	SUMF1	ENSG00000144455	Na	Na	Na	Na	Na	Na	Het;A>G	142;1|5	Hom;A>G	165;0|5
N	N	-	3	44929287	44929287	G	C	snp	nonsynonymous SNV	G300C	E100D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs2271087	0.427117	0.2543	0.3792	0.42	5	12	exonic	exonic	exonic	TGM4	TGM4	ENSG00000163810	nonsynonymous SNV	nonsynonymous SNV	unknown	TGM4:NM_003241:exon3:c.G300C:p.E100D,	TGM4:uc003coa.2:exon3:c.G300C:p.E100D,TGM4:uc003coc.4:exon3:c.G300C:p.E100D,	UNKNOWN	Het;G>C	2225;127|114	Hom;G>C	7257;0|275
N	N	-	3	44943069	44943069	C	T	snp	synonymous SNV	C276T	Y92Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs1995640	0.567292	0.4456	0.4992	1	0	0	exonic	exonic	exonic	TGM4	TGM4	ENSG00000163810	synonymous SNV	synonymous SNV	unknown	TGM4:NM_003241:exon7:c.C711T:p.Y237Y,	TGM4:uc003cob.3:exon6:c.C276T:p.Y92Y,TGM4:uc003coc.4:exon7:c.C711T:p.Y237Y,	UNKNOWN	Het;C>T	937;48|44	Hom;C>T	2297;0|85
N	N	-	3	44943389	44943389	G	A	snp	nonsynonymous SNV	G937A	E313K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs1995641	0.555112	0.4330	0.4899	0.15	2	13	exonic	exonic	exonic	TGM4	TGM4	ENSG00000163810	nonsynonymous SNV	nonsynonymous SNV	unknown	TGM4:NM_003241:exon8:c.G937A:p.E313K,	TGM4:uc003coc.4:exon8:c.G937A:p.E313K,	UNKNOWN	Het;G>A	1027;85|56	Hom;G>A	3526;0|129
N	N	-	3	44948479	44948479	C	T	snp	nonsynonymous SNV	C1114T	R372C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs3749195	0.674521	0.5324	0.5714	0.42	5	12	exonic	exonic	exonic	TGM4	TGM4	ENSG00000163810	nonsynonymous SNV	nonsynonymous SNV	unknown	TGM4:NM_003241:exon10:c.C1114T:p.R372C,	TGM4:uc003coc.4:exon10:c.C1114T:p.R372C,	UNKNOWN	Het;C>T	317;26|15	Hom;C>T	1351;0|44
N	N	-	3	44948590	44948590	G	A	snp	nonsynonymous SNV	G1225A	V409I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs9876921	0.619409	0.4700	0.5521	0.08	1	13	exonic	exonic	exonic	TGM4	TGM4	ENSG00000163810	nonsynonymous SNV	nonsynonymous SNV	unknown	TGM4:NM_003241:exon10:c.G1225A:p.V409I,	TGM4:uc003coc.4:exon10:c.G1225A:p.V409I,	UNKNOWN	Het;G>A	1725;76|85	Hom;G>A	3225;0|126
N	N	-	3	44948770	44948770	G	A	snp	intronic	 	 	 	 	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs4622937	0.619609	0	0	1	0	0	intronic	intronic	intronic	TGM4	TGM4	ENSG00000163810	Na	Na	Na	Na	Na	Na	Het;G>A	204;5|9	Hom;G>A	457;0|17
N	N	-	3	44952407	44952407	G	C	snp	intronic	 	 	 	 	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs1520082	0.685903	0.5309	0.5739	1	0	0	intronic	intronic	intronic	TGM4	TGM4	ENSG00000163810	Na	Na	Na	Na	Na	Na	Het;G>C	588;9|22	Hom;G>C	230;0|7
N	N	-	3	44952942	44952942	A	C	snp	intronic	 	 	 	 	TGM4	Tgm4	ENSG00000281886	transglutaminase 4	chr3:44916100-44956482		Body Height	Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired.		GO:0018149;peptide cross-linking;IEA	GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGM4			https://www.ncbi.nlm.nih.gov/omim/?term=600585	http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4	rs6777798	0.687101	0.5362	0.5742	1	0	0	intronic	intronic	intronic	TGM4	TGM4	ENSG00000163810	Na	Na	Na	Na	Na	Na	Het;A>C	978;37|43	Hom;A>C	2065;0|75
N	N	-	3	45017904	45017904	A	T	snp	intronic	 	 	 	 	EXOSC7	Exosc7	ENSG00000075914	exosome component 7	chr3:45016733-45077558			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0006401;RNA catabolic process;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOSC7	https://www.uniprot.org/uniprot/Q15024		https://www.ncbi.nlm.nih.gov/omim/?term=606488	http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC7&submit=Quick%0D%1568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC7	rs6441873	0.589058	0	0	1	0	0	intronic	intronic	intronic	EXOSC7	EXOSC7	ENSG00000075914	Na	Na	Na	Na	Na	Na	Het;A>T	1192;24|33	Hom;A>T	2275;0|53
N	N	-	3	45017905	45017905	G	T	snp	intronic	 	 	 	 	EXOSC7	Exosc7	ENSG00000075914	exosome component 7	chr3:45016733-45077558			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0006401;RNA catabolic process;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOSC7	https://www.uniprot.org/uniprot/Q15024		https://www.ncbi.nlm.nih.gov/omim/?term=606488	http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC7&submit=Quick%0D%1568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC7	rs6441874	0.589257	0	0	1	0	0	intronic	intronic	intronic	EXOSC7	EXOSC7	ENSG00000075914	Na	Na	Na	Na	Na	Na	Het;G>T	1192;24|29	Hom;G>T	2275;0|50
N	N	-	3	45049186	45049186	A	G	snp	intronic	 	 	 	 	EXOSC7	Exosc7	ENSG00000075914	exosome component 7	chr3:45016733-45077558			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0006401;RNA catabolic process;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOSC7	https://www.uniprot.org/uniprot/Q15024		https://www.ncbi.nlm.nih.gov/omim/?term=606488	http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC7&submit=Quick%0D%1568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC7	rs11130040	0.720447	0	0	1	0	0	intronic	intronic	intronic	EXOSC7	EXOSC7	ENSG00000075914	Na	Na	Na	Na	Na	Na	Het;A>G	49;1|3	Hom;A>G	164;0|5
N	N	-	3	45052775	45052775	G	C	snp	nonsynonymous SNV	G820C	V274L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EXOSC7	Exosc7	ENSG00000075914	exosome component 7	chr3:45016733-45077558			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0006401;RNA catabolic process;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOSC7	https://www.uniprot.org/uniprot/Q15024		https://www.ncbi.nlm.nih.gov/omim/?term=606488	http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC7&submit=Quick%0D%1568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC7	rs6794	0.705871	0.5690	0.5940	0.08	1	13	exonic	exonic	exonic	EXOSC7	EXOSC7	ENSG00000075914	nonsynonymous SNV	nonsynonymous SNV	unknown	EXOSC7:NM_015004:exon8:c.G820C:p.V274L,	EXOSC7:uc003coh.1:exon8:c.G625C:p.V209L,EXOSC7:uc010his.1:exon6:c.G577C:p.V193L,EXOSC7:uc003coi.2:exon8:c.G820C:p.V274L,	UNKNOWN	Het;G>C	494;49|28	Hom;G>C	2358;0|84
N	N	-	3	45054149	45054149	A	G	snp	UTR3	*529A>G	 	 	 	EXOSC7	Exosc7	ENSG00000075914	exosome component 7	chr3:45016733-45077558			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0006401;RNA catabolic process;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOSC7	https://www.uniprot.org/uniprot/Q15024		https://www.ncbi.nlm.nih.gov/omim/?term=606488	http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC7&submit=Quick%0D%1568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC7	rs7626251	0.720447	0	0	1	0	0	intergenic	UTR3	intergenic	EXOSC7(dist=1187),CLEC3B(dist=13610)	EXOSC7(uc003coh.1:c.*529A>G,uc010his.1:c.*529A>G)	ENSG00000075914(dist=1187),ENSG00000163815(dist=13526)	Na	Na	Na	Na	Na	Na	Het;A>G	1079;48|48	Hom;A>G	2335;0|82
N	N	-	3	45068074	45068074	A	G	snp	intronic	 	 	 	 	CLEC3B	Clec3b	ENSG00000163815	C-type lectin domain family 3 member B	chr3:45043040-45077563		osteoarthritis	Mice homozygous for a null allele develop pronounced cervical lordosis and thoracic kyphosis associated with wedge-shaped deformities of the vertebrae, growth plate irregularities, and an	Platelet degranulation 	GO:0001503;ossification;IEP|GO:0002576;platelet degranulation;TAS|GO:0010756;positive regulation of plasminogen activation;ISS|GO:0030282;bone mineralization;IDA|GO:0071310;cellular response to organic substance;IEP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0001652;granular component;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0031012;extracellular matrix;ISS|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0008201;heparin binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0036143;kringle domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLEC3B			https://www.ncbi.nlm.nih.gov/omim/?term=187520	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC3B&submit=Quick%0D%11100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC3B	rs2301282	0.606629	0	0	1	0	0	intronic	intronic	intronic	CLEC3B	CLEC3B	ENSG00000163815	Na	Na	Na	Na	Na	Na	Het;A>G	300;9|11	Hom;A>G	278;0|9
N	N	-	3	45072535	45072535	G	A	snp	intronic	 	 	 	 	CLEC3B	Clec3b	ENSG00000163815	C-type lectin domain family 3 member B	chr3:45043040-45077563		osteoarthritis	Mice homozygous for a null allele develop pronounced cervical lordosis and thoracic kyphosis associated with wedge-shaped deformities of the vertebrae, growth plate irregularities, and an	Platelet degranulation 	GO:0001503;ossification;IEP|GO:0002576;platelet degranulation;TAS|GO:0010756;positive regulation of plasminogen activation;ISS|GO:0030282;bone mineralization;IDA|GO:0071310;cellular response to organic substance;IEP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0001652;granular component;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0031012;extracellular matrix;ISS|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0008201;heparin binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0036143;kringle domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLEC3B			https://www.ncbi.nlm.nih.gov/omim/?term=187520	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC3B&submit=Quick%0D%11100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC3B	rs2139538	0.606829	0	0	1	0	0	intronic	intronic	intronic	CLEC3B	CLEC3B	ENSG00000163815	Na	Na	Na	Na	Na	Na	Het;G>A	76;1|3	Hom;G>A	125;0|4
N	N	-	3	45077123	45077123	G	A	snp	nonsynonymous SNV	G316A	G106S	aliphatic,neutral	polar,hydrophilic,neutral	CLEC3B	Clec3b	ENSG00000163815	C-type lectin domain family 3 member B	chr3:45043040-45077563		osteoarthritis	Mice homozygous for a null allele develop pronounced cervical lordosis and thoracic kyphosis associated with wedge-shaped deformities of the vertebrae, growth plate irregularities, and an	Platelet degranulation 	GO:0001503;ossification;IEP|GO:0002576;platelet degranulation;TAS|GO:0010756;positive regulation of plasminogen activation;ISS|GO:0030282;bone mineralization;IDA|GO:0071310;cellular response to organic substance;IEP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0001652;granular component;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0031012;extracellular matrix;ISS|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0008201;heparin binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0036143;kringle domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLEC3B			https://www.ncbi.nlm.nih.gov/omim/?term=187520	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC3B&submit=Quick%0D%11100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC3B	rs13963	0.563498	0.3992	0.4854	0.15	2	13	exonic	exonic	exonic	CLEC3B	CLEC3B	ENSG00000163815	nonsynonymous SNV	nonsynonymous SNV	unknown	CLEC3B:NM_003278:exon3:c.G316A:p.G106S,	CLEC3B:uc003cok.4:exon3:c.G316A:p.G106S,	UNKNOWN	Het;G>A	1991;62|87	Hom;G>A	2770;1|101
N	N	-	3	45077458	45077458	G	A	snp	UTR3	*42G>A	 	 	 	CLEC3B	Clec3b	ENSG00000163815	C-type lectin domain family 3 member B	chr3:45043040-45077563		osteoarthritis	Mice homozygous for a null allele develop pronounced cervical lordosis and thoracic kyphosis associated with wedge-shaped deformities of the vertebrae, growth plate irregularities, and an	Platelet degranulation 	GO:0001503;ossification;IEP|GO:0002576;platelet degranulation;TAS|GO:0010756;positive regulation of plasminogen activation;ISS|GO:0030282;bone mineralization;IDA|GO:0071310;cellular response to organic substance;IEP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP	GO:0001652;granular component;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0031012;extracellular matrix;ISS|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IDA|GO:0008201;heparin binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0036143;kringle domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLEC3B			https://www.ncbi.nlm.nih.gov/omim/?term=187520	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC3B&submit=Quick%0D%11100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC3B	rs8318	0.59385	0.3820	0.5690	1	0	0	UTR3	UTR3	UTR3	CLEC3B(NM_003278:c.*42G>A)	CLEC3B(uc003cok.4:c.*42G>A)	ENSG00000163815(ENST00000296130:c.*42G>A,ENST00000428034:c.*42G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	737;14|33	Hom;G>A	1337;0|49
N	N	-	3	45187671	45187671	C	T	snp	intronic	 	 	 	 	CDCP1	Cdcp1	ENSG00000163814	CUB domain containing protein 1	chr3:45123770-45187914	This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]		Mice homozygous for a knock-out allele are viable and fertile.			GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDCP1			https://www.ncbi.nlm.nih.gov/omim/?term=611735	http://www.informatics.jax.org/searchtool/Search.do?query=CDCP1&submit=Quick%0D%11099ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDCP1	rs1863837	0.640575	0.5803	0.6585	1	0	0	intronic	intronic	intronic	CDCP1	CDCP1	ENSG00000163814	Na	Na	Na	Na	Na	Na	Het;C>T	284;23|13	Hom;C>T	937;0|36
N	N	-	3	45515648	45515648	T	C	snp	intronic	 	 	 	 	LARS2	Lars2	ENSG00000011376	leucyl-tRNA synthetase 2, mitochondrial	chr3:45429998-45590913	This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; diabetes, type 2; Lymphocytes; Neutrophils	 	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006429;leucyl-tRNA aminoacylation;IDA|GO:0006450;regulation of translational fidelity;IEA|GO:0032543;mitochondrial translation;IBA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0002161;aminoacyl-tRNA editing activity;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004823;leucine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LARS2	https://www.uniprot.org/uniprot/Q15031	https://hpo.jax.org/app/browse/search?q=LARS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604544	http://www.informatics.jax.org/searchtool/Search.do?query=LARS2&submit=Quick%0D%556ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LARS2	rs11919039	0.503594	0	0	1	0	0	intronic	intronic	intronic	LARS2	LARS2	ENSG00000011376	Na	Na	Na	Na	Na	Na	Het;T>C	77;4|3	Hom;T>C	195;0|7
N	N	-	3	45530401	45530401	G	A	snp	ncRNA_intronic	 	 	 	 	LARS2-AS1																		rs3733116	0.503195	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LARS2-AS1	LARS2-AS1	ENSG00000232455	Na	Na	Na	Na	Na	Na	Het;G>A	247;14|12	Hom;G>A	582;0|17
N	N	-	3	45542083	45542083	T	C	snp	ncRNA_intronic	 	 	 	 	LARS2-AS1																		rs2306522	0.503395	0.4762	0.6073	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LARS2-AS1	LARS2-AS1	ENSG00000232455	Na	Na	Na	Na	Na	Na	Het;T>C	1274;53|62	Hom;T>C	3546;0|126
N	N	-	3	4712413	4712413	G	A	snp	synonymous SNV	G1962A	K654K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ITPR1	Itpr1	ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1	chr3:4535032-4889524	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]	Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests	Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ITPR1	https://www.uniprot.org/uniprot/Q14643	https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147265	http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1	rs2306875	0.614018	0.6808	0.6832	1	0	0	exonic	exonic	exonic	ITPR1	ITPR1	ENSG00000150995	synonymous SNV	synonymous SNV	unknown	ITPR1:NM_002222:exon19:c.G1962A:p.K654K,ITPR1:NM_001099952:exon20:c.G2007A:p.K669K,ITPR1:NM_001168272:exon19:c.G1962A:p.K654K,	ITPR1:uc021wsj.1:exon19:c.G1962A:p.K654K,ITPR1:uc003bqc.3:exon19:c.G1962A:p.K654K,ITPR1:uc021wsi.1:exon20:c.G2007A:p.K669K,	UNKNOWN	Het;G>A	1105;68|52	Hom;G>A	3418;2|134
N	N	-	3	4712710	4712710	A	T	snp	intronic	 	 	 	 	ITPR1	Itpr1	ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1	chr3:4535032-4889524	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]	Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests	Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ITPR1	https://www.uniprot.org/uniprot/Q14643	https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147265	http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1	rs2306876	0.611222	0	0	1	0	0	intronic	intronic	intronic	ITPR1	ITPR1	ENSG00000150995	Na	Na	Na	Na	Na	Na	Het;A>T	75;13|5	Hom;A>T	267;0|10
N	N	-	3	4856180	4856180	T	C	snp	synonymous SNV	T7446C	T2482T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ITPR1	Itpr1	ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1	chr3:4535032-4889524	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]	Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests	Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ITPR1	https://www.uniprot.org/uniprot/Q14643	https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147265	http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1	rs711631	0.790935	0.8026	0.8244	1	0	0	exonic	exonic	exonic	ITPR1	ITPR1	ENSG00000150995	synonymous SNV	synonymous SNV	unknown	ITPR1:NM_002222:exon54:c.T7446C:p.T2482T,ITPR1:NM_001099952:exon55:c.T7491C:p.T2497T,ITPR1:NM_001168272:exon57:c.T7590C:p.T2530T,	ITPR1:uc021wsj.1:exon54:c.T7446C:p.T2482T,ITPR1:uc003bqc.3:exon57:c.T7590C:p.T2530T,ITPR1:uc010hcc.2:exon6:c.T795C:p.T265T,ITPR1:uc011asv.2:exon6:c.T663C:p.T221T,ITPR1:uc021wsi.1:exon55:c.T7491C:p.T2497T,ITPR1:uc011asu.2:exon16:c.T1524C:p.T508T,	UNKNOWN	Het;T>C	1011;45|49	Hom;T>C	1999;0|75
N	N	-	3	4856234	4856234	G	A	snp	synonymous SNV	G7500A	K2500K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ITPR1	Itpr1	ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1	chr3:4535032-4889524	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]	Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests	Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ITPR1	https://www.uniprot.org/uniprot/Q14643	https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147265	http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1	rs901854	0.58746	0.5955	0.6054	1	0	0	exonic	exonic	exonic	ITPR1	ITPR1	ENSG00000150995	synonymous SNV	synonymous SNV	unknown	ITPR1:NM_002222:exon54:c.G7500A:p.K2500K,ITPR1:NM_001099952:exon55:c.G7545A:p.K2515K,ITPR1:NM_001168272:exon57:c.G7644A:p.K2548K,	ITPR1:uc021wsj.1:exon54:c.G7500A:p.K2500K,ITPR1:uc003bqc.3:exon57:c.G7644A:p.K2548K,ITPR1:uc010hcc.2:exon6:c.G849A:p.K283K,ITPR1:uc011asv.2:exon6:c.G717A:p.K239K,ITPR1:uc021wsi.1:exon55:c.G7545A:p.K2515K,ITPR1:uc011asu.2:exon16:c.G1578A:p.K526K,	UNKNOWN	Het;G>A	598;30|31	Hom;G>A	1031;0|35
N	N	-	3	4889079	4889079	C	CAA	indel	UTR3	*1170C>CAA	 	 	 	ITPR1	Itpr1	ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1	chr3:4535032-4889524	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]	Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests	Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ITPR1	https://www.uniprot.org/uniprot/Q14643	https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147265	http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1	rs3079679	0	0	0	1	0	0	UTR3	UTR3	UTR3	ITPR1(NM_002222:c.*1170C>CAA,NM_001099952:c.*1170C>CAA,NM_001168272:c.*1170C>CAA)	ITPR1(uc003bqc.3:c.*1170C>CAA,uc021wsi.1:c.*1170C>CAA,uc021wsj.1:c.*1170C>CAA,uc011asu.2:c.*1170C>CAA,uc010hcc.2:c.*1170C>CAA,uc011asv.2:c.*1170C>CAA)	ENSG00000150995(ENST00000423119:c.*1170C>CAA,ENST00000354582:c.*1170C>CAA,ENST00000302640:c.*1170C>CAA,ENST00000456211:c.*1170C>CAA,ENST00000357086:c.*1170C>CAA,ENST00000443694:c.*1170C>CAA)	Na	Na	Na	Na	Na	Na	Het;+AA	411;3|17	Hom;+AA	707;0|24
N	N	-	3	4942432	4942432	C	G	snp	ncRNA_intronic	 	 	 	 	BHLHE40-AS1																		rs71634747	0.340056	0	0.3649	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	BHLHE40-AS1	BHLHE40-AS1	ENSG00000235831	Na	Na	Na	Na	Na	Na	Het;C>G	39;2|2	Hom;C>G	132;0|4
N	N	-	3	4991139	4991139	T	C	snp	ncRNA_intronic	 	 	 	 	BHLHE40-AS1																		rs7635516	0.470248	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	BHLHE40-AS1	BHLHE40-AS1	ENSG00000235831	Na	Na	Na	Na	Na	Na	Het;T>C	181;6|8	Hom;T>C	245;0|9
N	N	-	3	50155209	50155209	C	CA	indel	ncRNA_exonic	 	 	 	 	AK125500																		rs113196021	0	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	RBM5	AK125500	ENSG00000235016	Na	Na	Na	Na	Na	Na	Het;+A	391;9|21	Hom;+A	499;4|27
N	N	-	3	52272945	52272945	C	CG	indel	intronic	 	 	 	 	TWF2	Twf2	ENSG00000247596	twinfilin actin binding protein 2	chr3:52262626-52273276	The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma	Mice homozygous for a targeted allele are viable, fertile, and do not display obvious morphological or behavioral abnormalities.		GO:0010592;positive regulation of lamellipodium assembly;IMP|GO:0010976;positive regulation of neuron projection development;IMP|GO:0030030;cell projection organization;IEA|GO:0030837;negative regulation of actin filament polymerization;ISS|GO:0032532;regulation of microvillus length;IC|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0042989;sequestering of actin monomers;ISS|GO:0045773;positive regulation of axon extension;IMP|GO:0051016;barbed-end actin filament capping;ISS|GO:0071300;cellular response to retinoic acid;IMP|GO:0071363;cellular response to growth factor stimulus;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0030016;myofibril;ISS|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030426;growth cone;IDA|GO:0032420;stereocilium;ISS|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;ISS|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TWF2			https://www.ncbi.nlm.nih.gov/omim/?term=607433	http://www.informatics.jax.org/searchtool/Search.do?query=TWF2&submit=Quick%0D%19876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TWF2	rs11441245	0.816294	0.6796	0	1	0	0	intronic	intronic	intronic	TWF2	TWF2	ENSG00000239732,ENSG00000247596	Na	Na	Na	Na	Na	Na	Het;+G	187;3|11	Hom;+G	195;1|9
N	N	-	3	5517071	5517071	G	GT	indel	intergenic	 	 	 	 	AC026202.1																		rs36122482	0.112021	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4790(dist=225131),GRM7-AS3(dist=1156974)	Metazoa_SRP(dist=222163),AF279782(dist=1015095)	ENSG00000230944(dist=218625),ENSG00000229642(dist=487458)	Na	Na	Na	Na	Na	Na	Het;+T	109;2|7	Hom;+T	189;0|9
N	N	-	3	5891935	5891935	A	G	snp	intergenic	 	 	 	 	AC026202.1																		rs1529861	0.36242	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4790(dist=599995),GRM7-AS3(dist=782110)	Metazoa_SRP(dist=597027),AF279782(dist=640231)	ENSG00000230944(dist=593489),ENSG00000229642(dist=112594)	Na	Na	Na	Na	Na	Na	Het;A>G	1325;59|65	Hom;A>G	2684;0|99
N	N	-	3	61728761	61728761	T	C	snp	ncRNA_exonic	 	 	 	 	AC096919.1																		rs633429	0.73143	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PTPRG	PTPRG	ENSG00000226360	Na	Na	Na	Na	Na	Na	Het;T>C	45;3|3	Hom;T>C	206;0|9
N	N	-	3	61728831	61728831	A	G	snp	intronic	 	 	 	 	PTPRG	Ptprg	ENSG00000144724	protein tyrosine phosphatase, receptor type G	chr3:61547243-62283288	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]	Alcoholism; Fuchs Endothelial Dystrophy; Inflammation; major depressive disorder ; Waist Circumference; Diabetes Mellitus, Type 2; Tobacco Use Disorder; Heart Rate; Bipolar Disorder; Schizophrenia; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease; Hip; Lipids; QT interval; Glucose; Cell Adhesion Molecules	Mice homozygous for a knock-out allele are overtly normal but exhibit minor behavioral changes including specific motor deficits, reduced latency to react in the tail flick test, enhanced sensory processing for acoustic stimuli, and reduced performance with cued fear conditioning.		GO:0006470;protein dephosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007420;brain development;IEA|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0010977;negative regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0005615;extracellular space;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPRG	https://www.uniprot.org/uniprot/P23470		https://www.ncbi.nlm.nih.gov/omim/?term=176886	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRG&submit=Quick%0D%8649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRG	rs585388	0.728834	0	0	1	0	0	intronic	intronic	intronic	PTPRG	PTPRG	ENSG00000144724	Na	Na	Na	Na	Na	Na	Het;A>G	50;3|4	Hom;A>G	112;0|5
N	N	-	3	61734539	61734539	T	C	snp	intronic	 	 	 	 	PTPRG	Ptprg	ENSG00000144724	protein tyrosine phosphatase, receptor type G	chr3:61547243-62283288	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]	Alcoholism; Fuchs Endothelial Dystrophy; Inflammation; major depressive disorder ; Waist Circumference; Diabetes Mellitus, Type 2; Tobacco Use Disorder; Heart Rate; Bipolar Disorder; Schizophrenia; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease; Hip; Lipids; QT interval; Glucose; Cell Adhesion Molecules	Mice homozygous for a knock-out allele are overtly normal but exhibit minor behavioral changes including specific motor deficits, reduced latency to react in the tail flick test, enhanced sensory processing for acoustic stimuli, and reduced performance with cued fear conditioning.		GO:0006470;protein dephosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007420;brain development;IEA|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0010977;negative regulation of neuron projection development;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA	GO:0005615;extracellular space;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPRG	https://www.uniprot.org/uniprot/P23470		https://www.ncbi.nlm.nih.gov/omim/?term=176886	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRG&submit=Quick%0D%8649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRG	rs3821880	0.596046	0.5552	0.5753	1	0	0	intronic	intronic	intronic	PTPRG	PTPRG	ENSG00000144724	Na	Na	Na	Na	Na	Na	Het;T>C	819;32|39	Hom;T>C	1666;0|59
N	N	-	3	62693593	62693599	CTGTTTT	C	indel	intronic	 	 	 	 	CADPS	Cadps	ENSG00000163618	calcium dependent secretion activator	chr3:62384022-62861054	This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008]	Body Weights and Measures; Intra-Abdominal Fat; Iron; Echocardiography; Tobacco Use Disorder; Lipoproteins, VLDL; Alzheimer Disease; Monocytes; Type 2 Diabetes| edema | rosiglitazone; Cholesterol	Homozygous null mice display neonatal lethality, respiratory failure and abnormal adrenal gland physiology. Adult heterozygous null mice display abnormal adrenal gland physiology that is different from that seen in homozygous neonates.		GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0015031;protein transport;IEA|GO:0016050;vesicle organization;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016082;synaptic vesicle priming;IEA|GO:0050432;catecholamine secretion;IEA|GO:0099525;presynaptic dense core vesicle exocytosis;IEA|GO:1990504;dense core granule exocytosis;IEA	GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CADPS			https://www.ncbi.nlm.nih.gov/omim/?term=604667	http://www.informatics.jax.org/searchtool/Search.do?query=CADPS&submit=Quick%0D%11029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CADPS	rs55659559	0.646765	0	0	1	0	0	intronic	intronic	intronic	CADPS	CADPS	ENSG00000163618	Na	Na	Na	Na	Na	Na	Het;-TGTTTT	116;5|4	Hom;-TGTTTT	548;0|13
N	N	-	3	63834117	63834117	C	A	snp	ncRNA_exonic	 	 	 	 	C3orf49		ENSG00000163632	chromosome 3 open reading frame 49	chr3:63805038-63834312								http://www.genecards.org/index.php?path=/Search/keyword/C3orf49				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf49&submit=Quick%0D%11037ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf49	rs115622859	0.0253594	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	C3orf49	C3orf49(uc003dls.4:c.*108C>A)	ENSG00000163632(ENST00000295896:c.*108C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	288;29|18	Hom;C>A	1176;0|47
N	N	-	3	63846765	63846765	C	A	snp	ncRNA_intronic	 	 	 	 	THOC7-AS1																		rs146023181	0.0135783	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	THOC7-AS1	THOC7	ENSG00000240549	Na	Na	Na	Na	Na	Na	Het;C>A	92;5|4	Hom;C>A	152;0|5
N	N	-	3	63953727	63953727	G	A	snp	intronic	 	 	 	 	ATXN7	Atxn7	ENSG00000163635	ataxin 7	chr3:63850233-63989138	The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Cerebellar Ataxia|; Spinocerebellar Ataxias; Respiratory Function Tests; Maximal Midexpiratory Flow Rate; Genomic Instability|Spinocerebellar Ataxias; Body Mass Index; Echocardiography; restless legs syndrome; spinocerebellar ataxia; Body Weight	Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age.	Ub-specific processing proteases	GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006997;nucleus organization;TAS|GO:0007601;visual perception;TAS|GO:0016578;histone deubiquitination;IDA|GO:0016579;protein deubiquitination;TAS|GO:0042326;negative regulation of phosphorylation;IEA|GO:0043569;negative regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016363;nuclear matrix;IEA	GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ATXN7		https://hpo.jax.org/app/browse/search?q=ATXN7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607640	http://www.informatics.jax.org/searchtool/Search.do?query=ATXN7&submit=Quick%0D%11040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN7	rs147473367	0.0129792	0	0	1	0	0	intronic	intronic	intronic	ATXN7	ATXN7	ENSG00000163635	Na	Na	Na	Na	Na	Na	Het;G>A	165;15|9	Hom;G>A	474;0|16
N	N	-	3	63990283	63990283	G	A	snp	ncRNA_exonic	 	 	 	 	PSMD6-AS2																		rs150840471	0.00898562	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PSMD6-AS2	PSMD6-AS2	ENSG00000239653	Na	Na	Na	Na	Na	Na	Het;G>A	1751;133|84	Hom;G>A	5532;5|202
N	N	-	3	63997872	63997872	A	G	snp	ncRNA_exonic	 	 	 	 	PSMD6-AS2																		rs1060897	0.277157	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	PSMD6-AS2	PSMD6-AS2	ENSG00000243410	Na	Na	Na	Na	Na	Na	Het;A>G	265;12|9	Hom;A>G	1187;0|27
N	N	-	3	63999322	63999322	G	A	snp	ncRNA_intronic	 	 	 	 	PSMD6-AS1																		rs3816157	0.253794	0.2174	0.1805	1	0	0	intronic	intronic	ncRNA_intronic	PSMD6	PSMD6	ENSG00000243410	Na	Na	Na	Na	Na	Na	Het;G>A	454;19|20	Hom;G>A	1246;0|44
N	N	-	3	64004409	64004409	C	CA	indel	intronic	 	 	 	 	PSMD6	Psmd6	ENSG00000163636	proteasome 26S subunit, non-ATPase 6	chr3:63996225-64009658	This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]	Folic Acid; Diabetes Mellitus, Type 2; Stroke	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;NAS|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS	GO:0000502;proteasome complex;IDA|GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005838;proteasome regulatory particle;IBA|GO:0022624;proteasome accessory complex;ISS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0005515;protein binding;IPI|GO:0016887;ATPase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/PSMD6				http://www.informatics.jax.org/searchtool/Search.do?query=PSMD6&submit=Quick%0D%11041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMD6	rs11376250	0.269968	0.2394	0.1854	1	0	0	intronic	intronic	intronic	PSMD6	PSMD6	ENSG00000163636	Na	Na	Na	Na	Na	Na	Het;+A	440;35|22	Hom;+A	2199;0|80
N	N	-	3	64068857	64068857	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00994																		rs40517	0.404353	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00994	LOC100287879	ENSG00000189196	Na	Na	Na	Na	Na	Na	Het;T>C	1481;65|64	Hom;T>C	3449;0|125
N	N	-	3	64069310	64069310	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00994																		rs26935	0.390974	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00994	LOC100287879	ENSG00000189196	Na	Na	Na	Na	Na	Na	Het;A>G	899;70|44	Hom;A>G	3409;0|128
N	N	-	3	64069436	64069436	G	T	snp	ncRNA_intronic	 	 	 	 	LOC100287879																		rs26936	0.392372	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00994,PRICKLE2-AS1	LOC100287879,PRICKLE2-AS1	ENSG00000189196,ENSG00000241111	Na	Na	Na	Na	Na	Na	Het;G>T	150;18|9	Hom;G>T	552;0|21
N	N	-	3	64072820	64072820	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00994																		rs254856	0.667532	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00994	LOC100287879	ENSG00000189196	Na	Na	Na	Na	Na	Na	Het;T>C	2249;112|100	Hom;T>C	6240;0|211
N	N	-	3	64072872	64072872	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00994																		rs254855	0.353435	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00994	LOC100287879	ENSG00000189196	Na	Na	Na	Na	Na	Na	Het;G>A	2419;142|117	Hom;G>A	6786;3|259
N	N	-	3	64081236	64081236	T	C	snp	ncRNA_intronic	 	 	 	 	PRICKLE2-AS1																		rs153730	0.395168	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	PRICKLE2-AS1	PRICKLE2-AS1	ENSG00000241111	Na	Na	Na	Na	Na	Na	Het;T>C	234;12|13	Hom;T>C	511;2|21
N	N	-	3	64082964	64082964	C	T	snp	ncRNA_exonic	 	 	 	 	PRICKLE2-AS1																		rs26939	0.373403	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PRICKLE2-AS1	PRICKLE2-AS1	ENSG00000241111	Na	Na	Na	Na	Na	Na	Het;C>T	2402;135|117	Hom;C>T	5557;1|209
N	N	-	3	64084032	64084032	T	G	snp	ncRNA_exonic	 	 	 	 	PRICKLE2-AS1																		rs26937	0.581669	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PRICKLE2-AS1	PRICKLE2-AS1	ENSG00000241111	Na	Na	Na	Na	Na	Na	Het;T>G	1288;67|61	Hom;T>G	3235;0|116
N	N	-	3	64087502	64087502	G	A	snp	ncRNA_exonic	 	 	 	 	PRICKLE2-AS1																		rs161654	0.715455	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PRICKLE2-AS1	PRICKLE2-AS1	ENSG00000241111	Na	Na	Na	Na	Na	Na	Het;G>A	2467;149|114	Hom;G>A	6165;0|222
N	N	-	3	64087717	64087717	A	T	snp	ncRNA_exonic	 	 	 	 	PRICKLE2-AS1																		rs161656	0.730631	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PRICKLE2-AS1	PRICKLE2-AS1	ENSG00000241111	Na	Na	Na	Na	Na	Na	Het;A>T	2392;78|102	Hom;A>T	5443;1|203
N	N	-	3	64091613	64091613	A	G	snp	ncRNA_intronic	 	 	 	 	PRICKLE2-AS2																		rs36237	0.565096	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	PRICKLE2-AS2	PRICKLE2-AS2	ENSG00000241101	Na	Na	Na	Na	Na	Na	Het;A>G	878;28|35	Hom;A>G	1800;0|54
N	N	-	3	6439158	6439158	C	G	snp	intergenic	 	 	 	 	AC026167.1																		rs455373	0.871206	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4790(dist=1147218),GRM7-AS3(dist=234887)	Metazoa_SRP(dist=1144250),AF279782(dist=93008)	ENSG00000226022(dist=31586),ENSG00000189229(dist=93008)	Na	Na	Na	Na	Na	Na	Het;C>G	1041;53|48	Hom;C>G	2602;0|90
N	N	-	3	64705365	64705365	C	T	snp	ncRNA_intronic	 	 	 	 	ADAMTS9-AS2																		rs6795735	0.713259	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ADAMTS9-AS2	ADAMTS9-AS2	ENSG00000241684	Na	Na	Na	Na	Na	Na	Het;C>T	305;17|16	Hom;C>T	269;0|12
N	N	-	3	64918622	64918622	G	C	snp	ncRNA_intronic	 	 	 	 	ADAMTS9-AS2																		rs812651	0.575879	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ADAMTS9-AS2,MIR548A2	ADAMTS9-AS2,MIR548A2	ENSG00000241684	Na	Na	Na	Na	Na	Na	Het;G>C	128;13|6	Hom;G>C	353;0|14
N	N	-	3	65607637	65607637	A	G	snp	intronic	 	 	 	 	MAGI1	Magi1	ENSG00000282956	membrane associated guanylate kinase, WW and PDZ domain containing 1	chr3:65339200-66024509	The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Body Height; Heart Rate; Tobacco Use Disorder; Triglycerides; Lipids; Erythrocyte Count; CD40 Ligand	 		GO:0006461;protein complex assembly;NAS|GO:0007155;cell adhesion;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0070997;neuron death;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0042995;cell projection;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0032947;protein complex scaffold;IEA|GO:0051393;alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAGI1	https://www.uniprot.org/uniprot/Q96QZ7		https://www.ncbi.nlm.nih.gov/omim/?term=602625	http://www.informatics.jax.org/searchtool/Search.do?query=MAGI1&submit=Quick%0D%22657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI1	rs3749455	0.67512	0.8218	0.7402	1	0	0	intronic	intronic	intronic	MAGI1	MAGI1	ENSG00000151276	Na	Na	Na	Na	Na	Na	Het;A>G	1195;105|64	Hom;A>G	3543;0|135
N	N	-	3	65807886	65807886	T	C	snp	intronic	 	 	 	 	MAGI1	Magi1	ENSG00000282956	membrane associated guanylate kinase, WW and PDZ domain containing 1	chr3:65339200-66024509	The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Body Height; Heart Rate; Tobacco Use Disorder; Triglycerides; Lipids; Erythrocyte Count; CD40 Ligand	 		GO:0006461;protein complex assembly;NAS|GO:0007155;cell adhesion;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0070997;neuron death;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0042995;cell projection;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0032947;protein complex scaffold;IEA|GO:0051393;alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAGI1	https://www.uniprot.org/uniprot/Q96QZ7		https://www.ncbi.nlm.nih.gov/omim/?term=602625	http://www.informatics.jax.org/searchtool/Search.do?query=MAGI1&submit=Quick%0D%22657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI1	rs2036070	0.535343	0	0	1	0	0	intronic	intronic	intronic	MAGI1	MAGI1	ENSG00000151276	Na	Na	Na	Na	Na	Na	Het;T>C	454;14|19	Hom;T>C	1031;0|32
N	N	-	3	65981872	65981872	A	G	snp	intronic	 	 	 	 	MAGI1	Magi1	ENSG00000282956	membrane associated guanylate kinase, WW and PDZ domain containing 1	chr3:65339200-66024509	The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Body Height; Heart Rate; Tobacco Use Disorder; Triglycerides; Lipids; Erythrocyte Count; CD40 Ligand	 		GO:0006461;protein complex assembly;NAS|GO:0007155;cell adhesion;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0070997;neuron death;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0042995;cell projection;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0032947;protein complex scaffold;IEA|GO:0051393;alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAGI1	https://www.uniprot.org/uniprot/Q96QZ7		https://www.ncbi.nlm.nih.gov/omim/?term=602625	http://www.informatics.jax.org/searchtool/Search.do?query=MAGI1&submit=Quick%0D%22657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI1	rs12631885	0.723442	0	0	1	0	0	intronic	intronic	intronic	MAGI1	MAGI1	ENSG00000151276	Na	Na	Na	Na	Na	Na	Het;A>G	56;1|4	Hom;A>G	111;0|5
N	N	-	3	65982027	65982027	T	C	snp	intronic	 	 	 	 	MAGI1	Magi1	ENSG00000282956	membrane associated guanylate kinase, WW and PDZ domain containing 1	chr3:65339200-66024509	The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Body Height; Heart Rate; Tobacco Use Disorder; Triglycerides; Lipids; Erythrocyte Count; CD40 Ligand	 		GO:0006461;protein complex assembly;NAS|GO:0007155;cell adhesion;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0070997;neuron death;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0042995;cell projection;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0032947;protein complex scaffold;IEA|GO:0051393;alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAGI1	https://www.uniprot.org/uniprot/Q96QZ7		https://www.ncbi.nlm.nih.gov/omim/?term=602625	http://www.informatics.jax.org/searchtool/Search.do?query=MAGI1&submit=Quick%0D%22657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI1	rs4688627	0.722444	0	0	1	0	0	intronic	intronic	intronic	MAGI1	MAGI1	ENSG00000151276	Na	Na	Na	Na	Na	Na	Het;T>C	32;9|4	Hom;T>C	163;0|7
N	N	-	3	66023592	66023592	A	G	snp	intronic	 	 	 	 	MAGI1	Magi1	ENSG00000282956	membrane associated guanylate kinase, WW and PDZ domain containing 1	chr3:65339200-66024509	The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Body Height; Heart Rate; Tobacco Use Disorder; Triglycerides; Lipids; Erythrocyte Count; CD40 Ligand	 		GO:0006461;protein complex assembly;NAS|GO:0007155;cell adhesion;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0070997;neuron death;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0042995;cell projection;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0032947;protein complex scaffold;IEA|GO:0051393;alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAGI1	https://www.uniprot.org/uniprot/Q96QZ7		https://www.ncbi.nlm.nih.gov/omim/?term=602625	http://www.informatics.jax.org/searchtool/Search.do?query=MAGI1&submit=Quick%0D%22657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI1	rs28696109	0.75	0	0	1	0	0	intronic	intronic	intronic	MAGI1	MAGI1	ENSG00000151276	Na	Na	Na	Na	Na	Na	Het;A>G	118;5|5	Hom;A>G	285;0|10
N	N	-	3	66430870	66430870	G	A	snp	synonymous SNV	C1959T	S653S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LRIG1	Lrig1	ENSG00000282243	leucine rich repeats and immunoglobulin like domains 1	chr3:66429221-66551687		Tobacco Use Disorder; Triglycerides; Coronary Artery Disease; Heart Function Tests	Homozygous null mice developed psoriasiform epidermal hyperplasia. Homozygotes exhibit hair follicle, epidermis, vertebral, eye and hearing abnormalities, decreased body size and fat amount, and increased susceptibility to bacterial infection.	Negative regulation of MET activity		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LRIG1	https://www.uniprot.org/uniprot/Q96JA1		https://www.ncbi.nlm.nih.gov/omim/?term=608868	http://www.informatics.jax.org/searchtool/Search.do?query=LRIG1&submit=Quick%0D%22450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRIG1	rs61754218	0.0445288	0.0525	0.0593	1	0	0	exonic	exonic	exonic	LRIG1	LRIG1	ENSG00000144749	synonymous SNV	synonymous SNV	unknown	LRIG1:NM_015541:exon19:c.C3099T:p.S1033S,	LRIG1:uc011bfu.2:exon11:c.C1959T:p.S653S,LRIG1:uc003dmx.3:exon19:c.C3099T:p.S1033S,LRIG1:uc010hoa.3:exon20:c.C3030T:p.S1010S,LRIG1:uc003dmw.3:exon12:c.C2097T:p.S699S,LRIG1:uc010hnz.3:exon16:c.C2247T:p.S749S,	UNKNOWN	Het;G>A	2000;126|99	Hom;G>A	4143;3|155
N	N	-	3	67548852	67548852	G	A	snp	intronic	 	 	 	 	SUCLG2	Suclg2	ENSG00000172340	succinate-CoA ligase GDP-forming beta subunit	chr3:67410884-67705038	This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]	Lipoproteins, VLDL; Narcolepsy; longevity; Astigmatism; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder; Glucose	Homozygous knockout with a gene trap is embryonic lethal. Heterozygosity has a mild effect on mitochondrial respiration.	Citric acid cycle (TCA cycle)	GO:0006099;tricarboxylic acid cycle;TAS|GO:0006104;succinyl-CoA metabolic process;NAS|GO:0006105;succinate metabolic process;IEA|GO:0008152;metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005886;plasma membrane;IDA|GO:0043234;protein complex;IEA|GO:0045244;succinate-CoA ligase complex (GDP-forming);IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004775;succinate-CoA ligase (ADP-forming) activity;IEA|GO:0004776;succinate-CoA ligase (GDP-forming) activity;IEA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0016874;ligase activity;IEA|GO:0019003;GDP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUCLG2			https://www.ncbi.nlm.nih.gov/omim/?term=603922	http://www.informatics.jax.org/searchtool/Search.do?query=SUCLG2&submit=Quick%0D%13134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUCLG2	rs7630024	0.468051	0	0	1	0	0	intronic	intronic	intronic	SUCLG2	SUCLG2	ENSG00000172340	Na	Na	Na	Na	Na	Na	Het;G>A	793;14|33	Hom;G>A	1916;0|72
N	N	-	3	68550044	68550044	T	C	snp	intronic	 	 	 	 	FAM19A1	Fam19a1	ENSG00000183662	family with sequence similarity 19 member A1, C-C motif chemokine like	chr3:68053359-68594776	This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]	Glucose; Cataract|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myopia; Triglycerides; Receptors, Tumor Necrosis Factor, Type II	 			GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM19A1			https://www.ncbi.nlm.nih.gov/omim/?term=617495	http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A1&submit=Quick%0D%15039ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A1	rs1511897	0.27476	0	0	1	0	0	intronic	intronic	intronic	FAM19A1	FAM19A1	ENSG00000183662	Na	Na	Na	Na	Na	Na	Het;T>C	1034;25|45	Hom;T>C	1379;1|52
N	N	-	3	68555035	68555036	CT	C	indel	intronic	 	 	 	 	FAM19A1	Fam19a1	ENSG00000183662	family with sequence similarity 19 member A1, C-C motif chemokine like	chr3:68053359-68594776	This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]	Glucose; Cataract|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myopia; Triglycerides; Receptors, Tumor Necrosis Factor, Type II	 			GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM19A1			https://www.ncbi.nlm.nih.gov/omim/?term=617495	http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A1&submit=Quick%0D%15039ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A1	rs35014492	0.715655	0	0	1	0	0	intronic	intronic	intronic	FAM19A1	FAM19A1	ENSG00000183662	Na	Na	Na	Na	Na	Na	Het;-T	162;13|11	Hom;-T	823;0|35
N	N	-	3	6904373	6904373	C	CGCTAACT	indel	intronic	 	 	 	 	GRM7	Grm7	ENSG00000196277	glutamate metabotropic receptor 7	chr3:6811688-7783215	L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]	schizophrenia; ADHD | attention-deficit hyperactivity disorder; Presbycusis; Panic Disorder; Cholesterol; Bipolar Disorder; Tobacco Use Disorder; Psychiatric Disorders; schizophrenia | autism; Depressive Disorder, Major; Creatinine; Type 2 Diabetes| edema | rosiglitazone; Basophils; Blood Pressure; depression; several psychiatric disorders; Arteries; Maximal Midexpiratory Flow Rate; Iron; Respiration Disorders; Alcoholism; major depressive disorder (broad); Factor VII; Echocardiography; Cleft Lip; Triglycerides; Schizophrenia; Erythrocyte Count; smoking cessation; Cholesterol, LDL; Body Weight; Weight Gain; Personality; delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced; Body Mass Index; panic disorder	Nullizygous mice exhibit epilepsy and deficits in fear response and conditioned taste aversion. Homozygotes for a knock-in allele show impaired spatial working memory and higher susceptibility to PTZ. Homozygotes for a reporter allele show impaired coordination and higher susceptibility to metrazol.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IDA|GO:0007268;chemical synaptic transmission;IDA|GO:0007605;sensory perception of sound;IMP|GO:0007608;sensory perception of smell;IEA|GO:0014050;negative regulation of glutamate secretion;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0031279;regulation of cyclase activity;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050896;response to stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;IDA|GO:0032279;asymmetric synapse;ISS|GO:0042734;presynaptic membrane;IBA|GO:0043198;dendritic shaft;ISS|GO:0043235;receptor complex;IDA|GO:0045211;postsynaptic membrane;ISS|GO:0048786;presynaptic active zone;ISS	GO:0001642;group III metabotropic glutamate receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005246;calcium channel regulator activity;IBA|GO:0008066;glutamate receptor activity;IDA|GO:0010855;adenylate cyclase inhibitor activity;IDA|GO:0070905;serine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GRM7			https://www.ncbi.nlm.nih.gov/omim/?term=604101	http://www.informatics.jax.org/searchtool/Search.do?query=GRM7&submit=Quick%0D%16312ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM7	rs113925177	0.762181	0	0	1	0	0	intronic	intronic	intronic	GRM7	GRM7	ENSG00000196277	Na	Na	Na	Na	Na	Na	Het;+GCTAACT	170;1|5	Hom;+GCTAACT	278;0|7
N	N	-	3	6904414	6904414	C	CT	indel	intronic	 	 	 	 	GRM7	Grm7	ENSG00000196277	glutamate metabotropic receptor 7	chr3:6811688-7783215	L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]	schizophrenia; ADHD | attention-deficit hyperactivity disorder; Presbycusis; Panic Disorder; Cholesterol; Bipolar Disorder; Tobacco Use Disorder; Psychiatric Disorders; schizophrenia | autism; Depressive Disorder, Major; Creatinine; Type 2 Diabetes| edema | rosiglitazone; Basophils; Blood Pressure; depression; several psychiatric disorders; Arteries; Maximal Midexpiratory Flow Rate; Iron; Respiration Disorders; Alcoholism; major depressive disorder (broad); Factor VII; Echocardiography; Cleft Lip; Triglycerides; Schizophrenia; Erythrocyte Count; smoking cessation; Cholesterol, LDL; Body Weight; Weight Gain; Personality; delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced; Body Mass Index; panic disorder	Nullizygous mice exhibit epilepsy and deficits in fear response and conditioned taste aversion. Homozygotes for a knock-in allele show impaired spatial working memory and higher susceptibility to PTZ. Homozygotes for a reporter allele show impaired coordination and higher susceptibility to metrazol.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IDA|GO:0007268;chemical synaptic transmission;IDA|GO:0007605;sensory perception of sound;IMP|GO:0007608;sensory perception of smell;IEA|GO:0014050;negative regulation of glutamate secretion;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0031279;regulation of cyclase activity;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050896;response to stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;IDA|GO:0032279;asymmetric synapse;ISS|GO:0042734;presynaptic membrane;IBA|GO:0043198;dendritic shaft;ISS|GO:0043235;receptor complex;IDA|GO:0045211;postsynaptic membrane;ISS|GO:0048786;presynaptic active zone;ISS	GO:0001642;group III metabotropic glutamate receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005246;calcium channel regulator activity;IBA|GO:0008066;glutamate receptor activity;IDA|GO:0010855;adenylate cyclase inhibitor activity;IDA|GO:0070905;serine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GRM7			https://www.ncbi.nlm.nih.gov/omim/?term=604101	http://www.informatics.jax.org/searchtool/Search.do?query=GRM7&submit=Quick%0D%16312ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM7	rs61366754	0.548323	0	0	1	0	0	intronic	intronic	intronic	GRM7	GRM7	ENSG00000196277	Na	Na	Na	Na	Na	Na	Het;+T	72;1|3	Hom;+T	111;1|5
N	N	-	3	69054212	69054213	CA	C	indel	intronic	 	 	 	 	EOGT	Eogt	ENSG00000163378	EGF domain specific O-linked N-acetylglucosamine transferase	chr3:69024365-69063112	This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]	Adams Oliver syndrome	 		GO:0006493;protein O-linked glycosylation;IEA|GO:0008152;metabolic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016262;protein N-acetylglucosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EOGT		https://hpo.jax.org/app/browse/search?q=EOGT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614789	http://www.informatics.jax.org/searchtool/Search.do?query=EOGT&submit=Quick%0D%10949ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EOGT	rs11320020	0.50639	0	0	1	0	0	intronic	intronic	intronic	EOGT	EOGT	ENSG00000163378	Na	Na	Na	Na	Na	Na	Het;-A	173;6|14	Hom;-A	188;1|12
N	N	-	3	69093598	69093598	T	C	snp	ncRNA_intronic	 	 	 	 	AC109587.1																		rs2271118	0.796725	0.8353	0.8116	1	0	0	intronic	intronic	ncRNA_intronic	TMF1	TMF1	ENSG00000244513	Na	Na	Na	Na	Na	Na	Het;T>C	444;6|17	Hom;T>C	420;0|14
N	N	-	3	69096614	69096614	G	A	snp	synonymous SNV	C1242T	S414S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TMF1	Tmf1	ENSG00000144747	TATA element modulatory factor 1	chr3:69068978-69101484		Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit male infertility associated with decreased testis weight, globozoospermia, absent acrosome, asthenozoospermia, and abnormal sperm midpiece morphology.	Retrograde transport at the Trans-Golgi-Network	GO:0001675;acrosome assembly;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA|GO:0007289;spermatid nucleus differentiation;IEA|GO:0008584;male gonad development;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032275;luteinizing hormone secretion;IEA|GO:0033327;Leydig cell differentiation;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0061136;regulation of proteasomal protein catabolic process;ISS|GO:0071407;cellular response to organic cyclic compound;IEA|GO:2000845;positive regulation of testosterone secretion;IEA	GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA	GO:0003677;DNA binding;IEA|GO:0003712;transcription cofactor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMF1	https://www.uniprot.org/uniprot/P82094		https://www.ncbi.nlm.nih.gov/omim/?term=601126	http://www.informatics.jax.org/searchtool/Search.do?query=TMF1&submit=Quick%0D%8655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMF1	rs2292199	0.772764	0.8117	0.7976	1	0	0	exonic	exonic	exonic	TMF1	TMF1	ENSG00000144747	synonymous SNV	synonymous SNV	unknown	TMF1:NM_007114:exon2:c.C1242T:p.S414S,	TMF1:uc003dnn.3:exon2:c.C1242T:p.S414S,TMF1:uc011bfx.2:exon2:c.C1242T:p.S414S,	UNKNOWN	Het;G>A	849;71|45	Hom;G>A	2896;0|106
N	N	-	3	69225588	69225588	T	G	snp	intronic	 	 	 	 	FRMD4B	Frmd4b	ENSG00000114541	FERM domain containing 4B	chr3:69219141-69591734	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]	Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B	https://www.uniprot.org/uniprot/Q9Y2L6		https://www.ncbi.nlm.nih.gov/omim/?term=617467	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B	rs11128118	0.747005	0	0	1	0	0	intronic	intronic	intronic	FRMD4B	FRMD4B	ENSG00000114541	Na	Na	Na	Na	Na	Na	Het;T>G	75;9|4	Hom;T>G	392;0|14
N	N	-	3	69225875	69225875	T	A	snp	intronic	 	 	 	 	FRMD4B	Frmd4b	ENSG00000114541	FERM domain containing 4B	chr3:69219141-69591734	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]	Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B	https://www.uniprot.org/uniprot/Q9Y2L6		https://www.ncbi.nlm.nih.gov/omim/?term=617467	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B	rs9872199	0.781949	0	0	1	0	0	intronic	intronic	intronic	FRMD4B	FRMD4B	ENSG00000114541	Na	Na	Na	Na	Na	Na	Het;T>A	251;3|9	Hom;T>A	462;0|16
N	N	-	3	69230061	69230061	G	A	snp	nonsynonymous SNV	C2840T	S947L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	FRMD4B	Frmd4b	ENSG00000114541	FERM domain containing 4B	chr3:69219141-69591734	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]	Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B	https://www.uniprot.org/uniprot/Q9Y2L6		https://www.ncbi.nlm.nih.gov/omim/?term=617467	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B	rs9831516	0.770367	0.8826	0.9032	0.69	9	13	exonic	exonic	exonic	FRMD4B	FRMD4B	ENSG00000114541	nonsynonymous SNV	nonsynonymous SNV	unknown	FRMD4B:NM_015123:exon21:c.C2840T:p.S947L,	FRMD4B:uc011bga.1:exon16:c.C2372T:p.S791L,FRMD4B:uc003dnv.2:exon21:c.C2840T:p.S947L,FRMD4B:uc003dnu.2:exon11:c.C1796T:p.S599L,	UNKNOWN	Het;G>A	843;63|43	Hom;G>A	2830;0|104
N	N	-	3	69230801	69230801	G	A	snp	synonymous SNV	C1632T	H544H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	FRMD4B	Frmd4b	ENSG00000114541	FERM domain containing 4B	chr3:69219141-69591734	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]	Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B	https://www.uniprot.org/uniprot/Q9Y2L6		https://www.ncbi.nlm.nih.gov/omim/?term=617467	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B	rs9836305	0.770168	0.8842	0.9031	1	0	0	exonic	exonic	exonic	FRMD4B	FRMD4B	ENSG00000114541	synonymous SNV	synonymous SNV	unknown	FRMD4B:NM_015123:exon21:c.C2100T:p.H700H,	FRMD4B:uc011bga.1:exon16:c.C1632T:p.H544H,FRMD4B:uc003dnv.2:exon21:c.C2100T:p.H700H,FRMD4B:uc003dnu.2:exon11:c.C1056T:p.H352H,	UNKNOWN	Het;G>A	1356;92|68	Hom;G>A	4690;0|177
N	N	-	3	69244162	69244162	G	A	snp	intronic	 	 	 	 	FRMD4B	Frmd4b	ENSG00000114541	FERM domain containing 4B	chr3:69219141-69591734	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]	Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B	https://www.uniprot.org/uniprot/Q9Y2L6		https://www.ncbi.nlm.nih.gov/omim/?term=617467	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B	rs9853587	0.720647	0.8343	0.8945	1	0	0	intronic	intronic	intronic	FRMD4B	FRMD4B	ENSG00000114541	Na	Na	Na	Na	Na	Na	Het;G>A	690;26|33	Hom;G>A	849;0|32
N	N	-	3	69246152	69246152	A	G	snp	synonymous SNV	T523C	L175L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FRMD4B	Frmd4b	ENSG00000114541	FERM domain containing 4B	chr3:69219141-69591734	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]	Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B	https://www.uniprot.org/uniprot/Q9Y2L6		https://www.ncbi.nlm.nih.gov/omim/?term=617467	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B	rs13059488	0.7498	0.8293	0.8717	1	0	0	exonic	exonic	exonic	FRMD4B	FRMD4B	ENSG00000114541	synonymous SNV	synonymous SNV	unknown	FRMD4B:NM_015123:exon13:c.T991C:p.L331L,	FRMD4B:uc011bga.1:exon8:c.T523C:p.L175L,FRMD4B:uc003dnv.2:exon13:c.T991C:p.L331L,	UNKNOWN	Het;A>G	297;72|22	Hom;A>G	2331;0|82
N	N	-	3	69246274	69246274	A	G	snp	intronic	 	 	 	 	FRMD4B	Frmd4b	ENSG00000114541	FERM domain containing 4B	chr3:69219141-69591734	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]	Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index	 		GO:0090162;establishment of epithelial cell polarity;IEA	GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B	https://www.uniprot.org/uniprot/Q9Y2L6		https://www.ncbi.nlm.nih.gov/omim/?term=617467	http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B	rs13059687	0.715455	0	0	1	0	0	intronic	intronic	intronic	FRMD4B	FRMD4B	ENSG00000114541	Na	Na	Na	Na	Na	Na	Het;A>G	292;19|16	Hom;A>G	1264;0|47
N	N	-	3	71352091	71352091	A	C	snp	ncRNA_intronic	 	 	 	 	BC040624																		rs12374070	0.237819	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	FOXP1-AS1	BC040624	ENSG00000244203	Na	Na	Na	Na	Na	Na	Het;A>C	357;12|14	Hom;A>C	1314;0|35
N	N	-	3	71408319	71408319	C	T	snp	UTR5	-160787G>A	 	 	 	FOXP1	Foxp1	ENSG00000114861	forkhead box P1	chr3:71003844-71633140	This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	ADHD | attention-deficit hyperactivity disorder; Vitiligo; Behcet Syndrome; Eosinophils; Tobacco Use Disorder; Tunica Media; Apraxias; Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity	Homozygous null mice display embryonic lethality with abnormal outflow tract septation, ventricular septal defects, abnormal cardiac valve morphology, decreased and irregular heart rate, thin ventricular compact zone, and edema.	Transcriptional regulation of pluripotent stem cells	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001701;in utero embryonic development;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0002329;pre-B cell differentiation;IEA|GO:0002639;positive regulation of immunoglobulin production;IEA|GO:0002903;negative regulation of B cell apoptotic process;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007507;heart development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0021517;ventral spinal cord development;IEA|GO:0021756;striatum development;IEA|GO:0030316;osteoclast differentiation;IDA|GO:0030324;lung development;IEA|GO:0030900;forebrain development;IEA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032680;regulation of tumor necrosis factor production;IDA|GO:0033152;immunoglobulin V(D)J recombination;IEA|GO:0033574;response to testosterone;IEA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035926;chemokine (C-C motif) ligand 2 secretion;IDA|GO:0036035;osteoclast development;IDA|GO:0042116;macrophage activation;IDA|GO:0042117;monocyte activation;IDA|GO:0042118;endothelial cell activation;IMP|GO:0045214;sarcomere organization;IEA|GO:0045655;regulation of monocyte differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0048745;smooth muscle tissue development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050706;regulation of interleukin-1 beta secretion;IDA|GO:0050727;regulation of inflammatory response;IDA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0060043;regulation of cardiac muscle cell proliferation;IEA|GO:0060766;negative regulation of androgen receptor signaling pathway;IDA|GO:0061052;negative regulation of cell growth involved in cardiac muscle cell development;IEA|GO:0061140;lung secretory cell differentiation;IEA|GO:0061470;T follicular helper cell differentiation;ISS|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0072358;cardiovascular system development;IEA|GO:0072619;interleukin-21 secretion;ISS|GO:1900424;regulation of defense response to bacterium;IDA|GO:1901249;regulation of lung goblet cell differentiation;IEA|GO:1901250;negative regulation of lung goblet cell differentiation;IEA|GO:1901256;regulation of macrophage colony-stimulating factor production;IDA|GO:1901509;regulation of endothelial tube morphogenesis;IMP|GO:1904637;cellular response to ionomycin;IEA|GO:1905206;positive regulation of hydrogen peroxide-induced cell death;IEA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IEA|GO:2001182;regulation of interleukin-12 secretion;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0043621;protein self-association;IMP|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0050681;androgen receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FOXP1	https://www.uniprot.org/uniprot/Q9H334	https://hpo.jax.org/app/browse/search?q=FOXP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605515	http://www.informatics.jax.org/searchtool/Search.do?query=FOXP1&submit=Quick%0D%4515ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXP1	rs17008544	0.122404	0	0	1	0	0	UTR5	UTR5	UTR5	FOXP1(NM_001244810:c.-160787G>A,NM_001244816:c.-160787G>A,NM_001244808:c.-160787G>A,NM_032682:c.-160787G>A,NM_001012505:c.-160787G>A)	FOXP1(uc021xan.1:c.-160787G>A,uc003doo.3:c.-160787G>A,uc003dop.3:c.-160787G>A,uc021xao.1:c.-160787G>A,uc003doq.1:c.-160787G>A,uc003dos.3:c.-160787G>A)	ENSG00000114861(ENST00000318789:c.-160787G>A,ENST00000475937:c.-160787G>A,ENST00000327590:c.-160787G>A,ENST00000493089:c.-160787G>A,ENST00000318779:c.-160787G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	703;30|35	Hom;C>T	1137;0|41
N	N	-	3	71934042	71934042	A	G	snp	intergenic	 	 	 	 	RN7SL271P																		rs7648714	0.33746	0	0	1	0	0	intergenic	intergenic	intergenic	PROK2(dist=99685),LINC00877(dist=150628)	PROK2(dist=99685),AK097190(dist=150628)	ENSG00000239250(dist=57428),ENSG00000244130(dist=121883)	Na	Na	Na	Na	Na	Na	Het;A>G	85;3|4	Hom;A>G	109;0|4
N	N	-	3	72732702	72732702	G	T	snp	intergenic	 	 	 	 	AC104435.1																		rs9310247	0.432109	0	0	1	0	0	intergenic	intergenic	intergenic	RYBP(dist=236928),SHQ1(dist=65726)	RYBP(dist=236928),SHQ1(dist=65726)	ENSG00000239568(dist=100016),ENSG00000222838(dist=8154)	Na	Na	Na	Na	Na	Na	Het;G>T	88;2|5	Hom;G>T	197;0|8
N	N	-	3	73016635	73016635	C	G	snp	intronic	 	 	 	 	GXYLT2	Gxylt2	ENSG00000172986	glucoside xylosyltransferase 2	chr3:72937224-73047289	The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]	Body Height	 		GO:0016266;O-glycan processing;IDA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0035252;UDP-xylosyltransferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GXYLT2			https://www.ncbi.nlm.nih.gov/omim/?term=613322	http://www.informatics.jax.org/searchtool/Search.do?query=GXYLT2&submit=Quick%0D%13272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GXYLT2	rs3732442	0.609824	0	0	1	0	0	intronic	intronic	intronic	GXYLT2	GXYLT2	ENSG00000172986	Na	Na	Na	Na	Na	Na	Het;C>G	284;7|8	Hom;C>G	669;0|17
N	N	-	3	73111973	73111973	A	G	snp	synonymous SNV	A741G	P247P	hydrophobic,neutral	hydrophobic,neutral	EBLN2	 	ENSG00000255423	endogenous Bornavirus like nucleoprotein 2	chr3:73110810-73112488		Cholesterol; Glucose; Insulin Resistance; Insulin	 					http://www.genecards.org/index.php?path=/Search/keyword/EBLN2			https://www.ncbi.nlm.nih.gov/omim/?term=613250	http://www.informatics.jax.org/searchtool/Search.do?query=EBLN2&submit=Quick%0D%20135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EBLN2	rs2231928	0.614816	0.6178	0.5379	1	0	0	exonic	exonic	exonic	EBLN2	EBLN2	ENSG00000255423	synonymous SNV	synonymous SNV	unknown	EBLN2:NM_018029:exon1:c.A741G:p.P247P,	EBLN2:uc003dpj.3:exon1:c.A741G:p.P247P,	UNKNOWN	Het;A>G	1558;103|77	Hom;A>G	3182;4|120
N	N	-	3	73160034	73160034	T	C	snp	upstream	 	 	 	 	RNU2-64P																		rs139631055	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45023),PDZRN3(dist=271547)	PPP4R2(dist=45023),PDZRN3(dist=271548)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;T>C	767;1|19	Hom;T>C	1166;0|27
N	N	-	3	73160036	73160036	G	C	snp	upstream	 	 	 	 	RNU2-64P																		rs796490858	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45025),PDZRN3(dist=271545)	PPP4R2(dist=45025),PDZRN3(dist=271546)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;G>C	851;1|19	Hom;G>C	1166;0|25
N	N	-	3	73160050	73160050	A	G	snp	upstream	 	 	 	 	RNU2-64P																		rs111350645	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45039),PDZRN3(dist=271531)	PPP4R2(dist=45039),PDZRN3(dist=271532)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;A>G	977;1|24	Hom;A>G	1066;0|24
N	N	-	3	73160054	73160054	C	G	snp	upstream	 	 	 	 	RNU2-64P																		rs77648630	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45043),PDZRN3(dist=271527)	PPP4R2(dist=45043),PDZRN3(dist=271528)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;C>G	995;1|22	Hom;C>G	1041;0|24
N	N	-	3	73160059	73160059	A	G	snp	upstream	 	 	 	 	RNU2-64P																		rs77103175	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45048),PDZRN3(dist=271522)	PPP4R2(dist=45048),PDZRN3(dist=271523)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;A>G	954;2|25	Hom;A>G	1041;0|22
N	N	-	3	73160095	73160095	T	G	snp	upstream	 	 	 	 	RNU2-64P																		rs79612815	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45084),PDZRN3(dist=271486)	PPP4R2(dist=45084),PDZRN3(dist=271487)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;T>G	932;2|23	Hom;T>G	782;0|18
N	N	-	3	73160099	73160099	A	G	snp	upstream	 	 	 	 	RNU2-64P																		rs77375673	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45088),PDZRN3(dist=271482)	PPP4R2(dist=45088),PDZRN3(dist=271483)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;A>G	932;2|23	Hom;A>G	782;0|18
N	N	-	3	73160128	73160128	G	C	snp	upstream	 	 	 	 	RNU2-64P																		rs76318519	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45117),PDZRN3(dist=271453)	PPP4R2(dist=45117),PDZRN3(dist=271454)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;G>C	659;2|17	Hom;G>C	557;0|13
N	N	-	3	73160133	73160133	A	AGGCG	indel	upstream	 	 	 	 	RNU2-64P																		Na	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45122),PDZRN3(dist=271448)	PPP4R2(dist=45122),PDZRN3(dist=271449)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;+GGCG	629;2|16	Hom;+GGCG	548;0|13
N	N	-	3	73160136	73160140	CAACG	C	indel	upstream	 	 	 	 	RNU2-64P																		Na	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45125),PDZRN3(dist=271441)	PPP4R2(dist=45125),PDZRN3(dist=271442)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;-AACG	545;2|14	Hom;-AACG	368;0|9
N	N	-	3	73160142	73160142	T	C	snp	upstream	 	 	 	 	RNU2-64P																		rs796853230	0	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=45131),PDZRN3(dist=271439)	PPP4R2(dist=45131),PDZRN3(dist=271440)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;T>C	554;2|14	Hom;T>C	377;0|9
N	N	-	3	73160144	73160144	A	T	snp	ncRNA_exonic	 	 	 	 	RNU2-64P																		rs796480865	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PPP4R2(dist=45133),PDZRN3(dist=271437)	PPP4R2(dist=45133),PDZRN3(dist=271438)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;A>T	554;2|14	Hom;A>T	377;0|8
N	N	-	3	73160152	73160152	T	C	snp	ncRNA_exonic	 	 	 	 	RNU2-64P																		rs796707485	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PPP4R2(dist=45141),PDZRN3(dist=271429)	PPP4R2(dist=45141),PDZRN3(dist=271430)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;T>C	470;2|12	Hom;T>C	242;0|4
N	N	-	3	73160154	73160154	A	G	snp	ncRNA_exonic	 	 	 	 	RNU2-64P																		rs796804992	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PPP4R2(dist=45143),PDZRN3(dist=271427)	PPP4R2(dist=45143),PDZRN3(dist=271428)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;A>G	470;2|12	Hom;A>G	152;0|4
N	N	-	3	73160160	73160160	G	T	snp	ncRNA_exonic	 	 	 	 	RNU2-64P																		rs796431521	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	PPP4R2(dist=45149),PDZRN3(dist=271421)	PPP4R2(dist=45149),PDZRN3(dist=271422)	ENSG00000223247	Na	Na	Na	Na	Na	Na	Het;G>T	470;2|12	Hom;G>T	152;0|4
N	N	-	3	73232449	73232449	A	G	snp	upstream	 	 	 	 	CCDC75P1																		rs9870859	0.319688	0	0	1	0	0	intergenic	intergenic	upstream	PPP4R2(dist=117438),PDZRN3(dist=199132)	PPP4R2(dist=117438),PDZRN3(dist=199133)	ENSG00000182921	Na	Na	Na	Na	Na	Na	Het;A>G	349;23|17	Hom;A>G	877;1|31
N	N	-	3	73877100	73877100	G	A	snp	ncRNA_intronic	 	 	 	 	LINC02005																		rs907336	0.309105	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	PDZRN3-AS1(dist=200050),CNTN3(dist=434620)	PDZRN3(dist=203028),CNTN3(dist=434622)	ENSG00000242741	Na	Na	Na	Na	Na	Na	Het;G>A	269;24|16	Hom;G>A	794;1|33
N	N	-	3	7398472	7398472	C	G	snp	intronic	 	 	 	 	GRM7	Grm7	ENSG00000196277	glutamate metabotropic receptor 7	chr3:6811688-7783215	L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]	schizophrenia; ADHD | attention-deficit hyperactivity disorder; Presbycusis; Panic Disorder; Cholesterol; Bipolar Disorder; Tobacco Use Disorder; Psychiatric Disorders; schizophrenia | autism; Depressive Disorder, Major; Creatinine; Type 2 Diabetes| edema | rosiglitazone; Basophils; Blood Pressure; depression; several psychiatric disorders; Arteries; Maximal Midexpiratory Flow Rate; Iron; Respiration Disorders; Alcoholism; major depressive disorder (broad); Factor VII; Echocardiography; Cleft Lip; Triglycerides; Schizophrenia; Erythrocyte Count; smoking cessation; Cholesterol, LDL; Body Weight; Weight Gain; Personality; delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced; Body Mass Index; panic disorder	Nullizygous mice exhibit epilepsy and deficits in fear response and conditioned taste aversion. Homozygotes for a knock-in allele show impaired spatial working memory and higher susceptibility to PTZ. Homozygotes for a reporter allele show impaired coordination and higher susceptibility to metrazol.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IDA|GO:0007268;chemical synaptic transmission;IDA|GO:0007605;sensory perception of sound;IMP|GO:0007608;sensory perception of smell;IEA|GO:0014050;negative regulation of glutamate secretion;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0031279;regulation of cyclase activity;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050896;response to stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;IDA|GO:0032279;asymmetric synapse;ISS|GO:0042734;presynaptic membrane;IBA|GO:0043198;dendritic shaft;ISS|GO:0043235;receptor complex;IDA|GO:0045211;postsynaptic membrane;ISS|GO:0048786;presynaptic active zone;ISS	GO:0001642;group III metabotropic glutamate receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005246;calcium channel regulator activity;IBA|GO:0008066;glutamate receptor activity;IDA|GO:0010855;adenylate cyclase inhibitor activity;IDA|GO:0070905;serine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GRM7			https://www.ncbi.nlm.nih.gov/omim/?term=604101	http://www.informatics.jax.org/searchtool/Search.do?query=GRM7&submit=Quick%0D%16312ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM7	rs62237107	0.582268	0	0	1	0	0	intronic	intronic	intronic	GRM7	GRM7	ENSG00000196277	Na	Na	Na	Na	Na	Na	Het;C>G	417;28|22	Hom;C>G	1452;0|49
N	N	-	3	74226912	74226912	A	T	snp	intergenic	 	 	 	 	ENSG00000212585																		rs278473	0.716853	0	0	1	0	0	intergenic	intergenic	intergenic	PDZRN3-AS1(dist=549862),CNTN3(dist=84808)	PDZRN3(dist=552840),CNTN3(dist=84810)	ENSG00000212585(dist=11622),ENSG00000113805(dist=84807)	Na	Na	Na	Na	Na	Na	Het;A>T	112;8|5	Hom;A>T	680;0|20
N	N	-	3	74413676	74413676	T	C	snp	synonymous SNV	A1155G	Q385Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CNTN3	Cntn3	ENSG00000113805	contactin 3	chr3:74311719-74570291		Tobacco Use Disorder; null; Tunica Media; Fibrinogen; Coronary Artery Disease; Cholesterol, HDL; several psychiatric disorders; Body Weight	 	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007399;nervous system development;IEA	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNTN3	https://www.uniprot.org/uniprot/Q9P232		https://www.ncbi.nlm.nih.gov/omim/?term=601325	http://www.informatics.jax.org/searchtool/Search.do?query=CNTN3&submit=Quick%0D%4409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTN3	rs6549590	0.45008	0.4724	0.5126	1	0	0	exonic	exonic	exonic	CNTN3	CNTN3	ENSG00000113805	synonymous SNV	synonymous SNV	unknown	CNTN3:NM_020872:exon9:c.A1155G:p.Q385Q,	CNTN3:uc003dpm.1:exon9:c.A1155G:p.Q385Q,	UNKNOWN	Het;T>C	1129;66|55	Hom;T>C	4116;2|155
N	N	-	3	75263722	75263722	A	G	snp	upstream;downstream	 	 	 	 	ENSG00000213300																		rs7635785	0.568091	0	0.4589	1	0	0	downstream	downstream	upstream;downstream	MIR4444-1,MIR4444-2	MIR4444-1	ENSG00000213300;ENSG00000266780	Na	Na	Na	Na	Na	Na	Het;A>G	949;73|50	Hom;A>G	3784;0|142
N	N	-	3	75313621	75313621	C	T	snp	intergenic	 	 	 	 	HNRNPA3P6																		rs12497509	0.391773	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4444-1(dist=49922),FAM86DP(dist=157082)	MIR4444-1(dist=49922),DQ584669(dist=155406)	ENSG00000213300(dist=48834),ENSG00000228868(dist=64079)	Na	Na	Na	Na	Na	Na	Het;C>T	78;16|6	Hom;C>T	366;0|14
N	N	-	3	75736774	75736774	G	A	snp	intergenic	 	 	 	 	LINC00960																		rs62249983	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=8320),ZNF717(dist=42338)	LOC401074(dist=8320),NONE(dist=NONE)	ENSG00000242516(dist=8320),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	277;17|13	Hom;G>A	295;0|10
N	N	-	3	75736798	75736798	C	T	snp	intergenic	 	 	 	 	LINC00960																		rs62249984	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=8344),ZNF717(dist=42314)	LOC401074(dist=8344),NONE(dist=NONE)	ENSG00000242516(dist=8344),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	977;24|26	Hom;C>T	589;0|14
N	N	-	3	75738411	75738411	A	G	snp	intergenic	 	 	 	 	LINC00960																		rs62250018	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=9957),ZNF717(dist=40701)	LOC401074(dist=9957),NONE(dist=NONE)	ENSG00000242516(dist=9957),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>G	383;3|10	Hom;A>G	692;0|14
N	N	-	3	75738451	75738451	T	C	snp	intergenic	 	 	 	 	LINC00960																		rs78340812	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=9997),ZNF717(dist=40661)	LOC401074(dist=9997),NONE(dist=NONE)	ENSG00000242516(dist=9997),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	493;8|23	Hom;T>C	1175;0|42
N	N	-	3	75738480	75738480	G	C	snp	intergenic	 	 	 	 	LINC00960																		rs71234731	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=10026),ZNF717(dist=40632)	LOC401074(dist=10026),NONE(dist=NONE)	ENSG00000242516(dist=10026),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>C	1096;11|49	Hom;G>C	1496;0|57
N	N	-	3	75738527	75738527	G	A	snp	intergenic	 	 	 	 	LINC00960																		rs62250019	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=10073),ZNF717(dist=40585)	LOC401074(dist=10073),NONE(dist=NONE)	ENSG00000242516(dist=10073),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	1881;7|62	Hom;G>A	2705;0|72
N	N	-	3	75738553	75738553	A	G	snp	intergenic	 	 	 	 	LINC00960																		rs201588835	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=10099),ZNF717(dist=40559)	LOC401074(dist=10099),NONE(dist=NONE)	ENSG00000242516(dist=10099),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>G	2169;10|56	Hom;A>G	2965;0|67
N	N	-	3	75739007	75739007	G	T	snp	intergenic	 	 	 	 	LINC00960																		rs62250025	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=10553),ZNF717(dist=40105)	LOC401074(dist=10553),NONE(dist=NONE)	ENSG00000242516(dist=10553),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>T	1824;9|45	Hom;G>T	4223;0|96
N	N	-	3	75739039	75739039	T	C	snp	intergenic	 	 	 	 	LINC00960																		rs1821930	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=10585),ZNF717(dist=40073)	LOC401074(dist=10585),NONE(dist=NONE)	ENSG00000242516(dist=10585),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	1279;9|31	Hom;T>C	3531;0|78
N	N	-	3	75739085	75739085	A	G	snp	intergenic	 	 	 	 	LINC00960																		rs75676108	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=10631),ZNF717(dist=40027)	LOC401074(dist=10631),NONE(dist=NONE)	ENSG00000242516(dist=10631),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>G	1292;8|32	Hom;A>G	1573;0|49
N	N	-	3	75739113	75739113	T	C	snp	intergenic	 	 	 	 	LINC00960																		rs1821932	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00960(dist=10659),ZNF717(dist=39999)	LOC401074(dist=10659),NONE(dist=NONE)	ENSG00000242516(dist=10659),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	734;7|24	Hom;T>C	1570;0|40
N	N	-	3	75786662	75786662	A	T	snp	nonsynonymous SNV	T2112A	N704K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs202184453	0	0	0.3537	0.25	3	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.T2112A:p.N704K,ZNF717:NM_001290209:exon5:c.T1962A:p.N654K,ZNF717:NM_001128223:exon5:c.T2112A:p.N704K,	ZNF717:uc011bgi.2:exon5:c.T2112A:p.N704K,	UNKNOWN	Het;A>T	1718;11|43	Hom;A>T	917;0|20
N	N	-	3	75786672	75786672	C	T	snp	nonsynonymous SNV	G2102A	S701N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs200017345	0	0	0.3735	0.08	1	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.G2102A:p.S701N,ZNF717:NM_001290209:exon5:c.G1952A:p.S651N,ZNF717:NM_001128223:exon5:c.G2102A:p.S701N,	ZNF717:uc011bgi.2:exon5:c.G2102A:p.S701N,	UNKNOWN	Het;C>T	2116;10|51	Hom;C>T	1592;0|35
N	N	-	3	75786681	75786681	G	A	snp	nonsynonymous SNV	C2093T	P698L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs111677009	0	0	0.4014	0.17	2	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.C2093T:p.P698L,ZNF717:NM_001290209:exon5:c.C1943T:p.P648L,ZNF717:NM_001128223:exon5:c.C2093T:p.P698L,	ZNF717:uc011bgi.2:exon5:c.C2093T:p.P698L,	UNKNOWN	Het;G>A	2415;12|58	Hom;G>A	1907;0|43
N	N	-	3	75786684	75786684	G	T	snp	nonsynonymous SNV	C2090A	T697K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs201345045	0	0	0.4071	0.33	4	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.C2090A:p.T697K,ZNF717:NM_001290209:exon5:c.C1940A:p.T647K,ZNF717:NM_001128223:exon5:c.C2090A:p.T697K,	ZNF717:uc011bgi.2:exon5:c.C2090A:p.T697K,	UNKNOWN	Het;G>T	2415;12|60	Hom;G>T	1932;0|44
N	N	-	3	75786737	75786737	A	T	snp	nonsynonymous SNV	T2037A	N679K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs78297221	0	0	0.5127	0.33	4	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.T2037A:p.N679K,ZNF717:NM_001290209:exon5:c.T1887A:p.N629K,ZNF717:NM_001128223:exon5:c.T2037A:p.N679K,	ZNF717:uc011bgi.2:exon5:c.T2037A:p.N679K,	UNKNOWN	Het;A>T	5234;37|127	Hom;A>T	4247;0|95
N	N	-	3	75786748	75786748	C	T	snp	nonsynonymous SNV	G2026A	D676N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs112332186	0	0	0.5129	0.08	1	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.G2026A:p.D676N,ZNF717:NM_001290209:exon5:c.G1876A:p.D626N,ZNF717:NM_001128223:exon5:c.G2026A:p.D676N,	ZNF717:uc011bgi.2:exon5:c.G2026A:p.D676N,	UNKNOWN	Het;C>T	5879;37|139	Hom;C>T	4775;0|103
N	N	-	3	75786760	75786761	TC	T	indel	frameshift substitution	2013_2014A	 	 	 	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs145576551	0	0.4547	0.4946	1	0	0	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	frameshift substitution	frameshift substitution	unknown	ZNF717:NM_001290208:exon5:c.2013_2014A,ZNF717:NM_001290209:exon5:c.1863_1864A,ZNF717:NM_001128223:exon5:c.2013_2014A,	ZNF717:uc011bgi.2:exon5:c.2013_2014A,	UNKNOWN	Het;-C	5995;45|150	Hom;-C	4896;0|112
N	N	-	3	75786833	75786833	G	A	snp	synonymous SNV	C1941T	Y647Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs139448820	0	0	0.4889	1	0	0	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	synonymous SNV	synonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.C1941T:p.Y647Y,ZNF717:NM_001290209:exon5:c.C1791T:p.Y597Y,ZNF717:NM_001128223:exon5:c.C1941T:p.Y647Y,	ZNF717:uc011bgi.2:exon5:c.C1941T:p.Y647Y,	UNKNOWN	Het;G>A	4472;48|119	Hom;G>A	3465;0|82
N	N	-	3	75786845	75786845	T	C	snp	synonymous SNV	A1929G	G643G	aliphatic,neutral	aliphatic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs62250105	0	0	0.4901	1	0	0	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	synonymous SNV	synonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.A1929G:p.G643G,ZNF717:NM_001290209:exon5:c.A1779G:p.G593G,ZNF717:NM_001128223:exon5:c.A1929G:p.G643G,	ZNF717:uc011bgi.2:exon5:c.A1929G:p.G643G,	UNKNOWN	Het;T>C	4108;38|101	Hom;T>C	3230;0|73
N	N	-	3	75786888	75786888	C	T	snp	nonsynonymous SNV	G1886A	R629H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs1615736	0	0	0.5067	0.08	1	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.G1886A:p.R629H,ZNF717:NM_001290209:exon5:c.G1736A:p.R579H,ZNF717:NM_001128223:exon5:c.G1886A:p.R629H,	ZNF717:uc011bgi.2:exon5:c.G1886A:p.R629H,	UNKNOWN	Het;C>T	1702;14|46	Hom;C>T	2061;0|50
N	N	-	3	75786894	75786895	GT	G	indel	frameshift substitution	1879_1880C	 	 	 	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs144168413	0	0.4346	0.5047	1	0	0	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	frameshift substitution	frameshift substitution	unknown	ZNF717:NM_001290208:exon5:c.1879_1880C,ZNF717:NM_001290209:exon5:c.1729_1730C,ZNF717:NM_001128223:exon5:c.1879_1880C,	ZNF717:uc011bgi.2:exon5:c.1879_1880C,	UNKNOWN	Het;-T	1662;13|42	Hom;-T	2008;0|45
N	N	-	3	75788105	75788105	C	T	snp	nonsynonymous SNV	G669A	M223I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs796745611	0	0	0	0.08	1	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.G669A:p.M223I,ZNF717:NM_001290209:exon5:c.G519A:p.M173I,ZNF717:NM_001128223:exon5:c.G669A:p.M223I,	ZNF717:uc011bgi.2:exon5:c.G669A:p.M223I,	UNKNOWN	Het;C>T	271;40|9	Hom;C>T	197;0|5
N	N	-	3	75788109	75788109	G	A	snp	nonsynonymous SNV	C665T	A222V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs796849627	0	0	0	0.17	2	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.C665T:p.A222V,ZNF717:NM_001290209:exon5:c.C515T:p.A172V,ZNF717:NM_001128223:exon5:c.C665T:p.A222V,	ZNF717:uc011bgi.2:exon5:c.C665T:p.A222V,	UNKNOWN	Het;G>A	268;40|10	Hom;G>A	197;0|5
N	N	-	3	75788114	75788114	C	T	snp	synonymous SNV	G660A	T220T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs200935043	0	0	0	1	0	0	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	synonymous SNV	synonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.G660A:p.T220T,ZNF717:NM_001290209:exon5:c.G510A:p.T170T,ZNF717:NM_001128223:exon5:c.G660A:p.T220T,	ZNF717:uc011bgi.2:exon5:c.G660A:p.T220T,	UNKNOWN	Het;C>T	244;43|10	Hom;C>T	197;0|5
N	N	-	3	75788130	75788130	C	T	snp	nonsynonymous SNV	G644A	G215E	aliphatic,neutral	polar,hydrophilic,charged(-)	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs113708852	0	0	0.0018	0.25	3	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.G644A:p.G215E,ZNF717:NM_001290209:exon5:c.G494A:p.G165E,ZNF717:NM_001128223:exon5:c.G644A:p.G215E,	ZNF717:uc011bgi.2:exon5:c.G644A:p.G215E,	UNKNOWN	Het;C>T	223;56|10	Hom;C>T	197;0|5
N	N	-	3	75788137	75788137	C	T	snp	nonsynonymous SNV	G637A	E213K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs199883677	0	0	0.0016	0.08	1	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.G637A:p.E213K,ZNF717:NM_001290209:exon5:c.G487A:p.E163K,ZNF717:NM_001128223:exon5:c.G637A:p.E213K,	ZNF717:uc011bgi.2:exon5:c.G637A:p.E213K,	UNKNOWN	Het;C>T	214;58|10	Hom;C>T	197;0|5
N	N	-	3	75788152	75788152	T	C	snp	nonsynonymous SNV	A622G	T208A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs76179262	0	0	0.0001	0.08	1	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon5:c.A622G:p.T208A,ZNF717:NM_001290209:exon5:c.A472G:p.T158A,ZNF717:NM_001128223:exon5:c.A622G:p.T208A,	ZNF717:uc011bgi.2:exon5:c.A622G:p.T208A,	UNKNOWN	Het;T>C	191;67|10	Hom;T>C	197;0|5
N	N	-	3	75790478	75790478	G	T	snp	nonsynonymous SNV	C226A	Q76K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ZNF717	Zfp39	ENSG00000227124	zinc finger protein 717	chr3:75758794-75834734	This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]	Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases	 	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF717				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717	rs142265598	0	0	0.0314	0.33	4	12	exonic	exonic	exonic	ZNF717	ZNF717	ENSG00000227124	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF717:NM_001290208:exon4:c.C226A:p.Q76K,ZNF717:NM_001290209:exon4:c.C76A:p.Q26K,ZNF717:NM_001290210:exon4:c.C226A:p.Q76K,ZNF717:NM_001128223:exon4:c.C226A:p.Q76K,	ZNF717:uc011bgi.2:exon4:c.C226A:p.Q76K,	UNKNOWN	Het;G>T	31;2|3	Hom;G>T	71;0|4
N	N	-	3	76036948	76036948	T	G	snp	intronic	 	 	 	 	ROBO2	Robo2	ENSG00000185008	roundabout guidance receptor 2	chr3:75955846-77699115	The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Brain imaging in schizophrenia (interaction); Tobacco Use Disorder; Erythrocyte Indices; Memory; Calcium-Binding Proteins; Body Weight; Alcoholism; Schizophrenia; schizophrenia; Frontal Lobe; Glycoproteins; Hypertrophy, Left Ventricular; Cholesterol, HDL; Vesico-Ureteral Reflux; Diabetes Mellitus; Blood Pressure; Cholesterol, LDL; Cell Adhesion Molecules; Carotid Artery Diseases; Calcium; Fibrinogen; Myocardial Infarction; Eosinophils; Celiac Disease|; psychopathic tendencies; Cholesterol	Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0001656;metanephros development;ISS|GO:0001657;ureteric bud development;IMP|GO:0001822;kidney development;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;NAS|GO:0007420;brain development;IEP|GO:0007507;heart development;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0021510;spinal cord development;IEA|GO:0021891;olfactory bulb interneuron development;ISS|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;ISS|GO:0032870;cellular response to hormone stimulus;IEP|GO:0035385;Roundabout signaling pathway;IEA|GO:0050772;positive regulation of axonogenesis;IDA|GO:0050925;negative regulation of negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS|GO:0061364;apoptotic process involved in luteolysis;IEP	GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030673;axolemma;ISS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008046;axon guidance receptor activity;IEA|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ROBO2		https://hpo.jax.org/app/browse/search?q=ROBO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602431	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO2&submit=Quick%0D%15318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO2	rs614854	0.448682	0	0	1	0	0	intergenic	intronic	intronic	ZNF717(dist=202214),ROBO2(dist=1052346)	ROBO2	ENSG00000185008	Na	Na	Na	Na	Na	Na	Het;T>G	264;2|9	Hom;T>G	654;1|21
N	N	-	3	76136708	76136708	T	C	snp	intronic	 	 	 	 	ROBO2	Robo2	ENSG00000185008	roundabout guidance receptor 2	chr3:75955846-77699115	The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Brain imaging in schizophrenia (interaction); Tobacco Use Disorder; Erythrocyte Indices; Memory; Calcium-Binding Proteins; Body Weight; Alcoholism; Schizophrenia; schizophrenia; Frontal Lobe; Glycoproteins; Hypertrophy, Left Ventricular; Cholesterol, HDL; Vesico-Ureteral Reflux; Diabetes Mellitus; Blood Pressure; Cholesterol, LDL; Cell Adhesion Molecules; Carotid Artery Diseases; Calcium; Fibrinogen; Myocardial Infarction; Eosinophils; Celiac Disease|; psychopathic tendencies; Cholesterol	Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0001656;metanephros development;ISS|GO:0001657;ureteric bud development;IMP|GO:0001822;kidney development;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;NAS|GO:0007420;brain development;IEP|GO:0007507;heart development;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0021510;spinal cord development;IEA|GO:0021891;olfactory bulb interneuron development;ISS|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;ISS|GO:0032870;cellular response to hormone stimulus;IEP|GO:0035385;Roundabout signaling pathway;IEA|GO:0050772;positive regulation of axonogenesis;IDA|GO:0050925;negative regulation of negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS|GO:0061364;apoptotic process involved in luteolysis;IEP	GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030673;axolemma;ISS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008046;axon guidance receptor activity;IEA|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ROBO2		https://hpo.jax.org/app/browse/search?q=ROBO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602431	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO2&submit=Quick%0D%15318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO2	rs1601982	0.381789	0	0	1	0	0	intergenic	intronic	intronic	ZNF717(dist=301974),ROBO2(dist=952586)	ROBO2	ENSG00000185008	Na	Na	Na	Na	Na	Na	Het;T>C	128;6|8	Hom;T>C	552;0|22
N	N	-	3	76286742	76286742	A	T	snp	intronic	 	 	 	 	ROBO2	Robo2	ENSG00000185008	roundabout guidance receptor 2	chr3:75955846-77699115	The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Brain imaging in schizophrenia (interaction); Tobacco Use Disorder; Erythrocyte Indices; Memory; Calcium-Binding Proteins; Body Weight; Alcoholism; Schizophrenia; schizophrenia; Frontal Lobe; Glycoproteins; Hypertrophy, Left Ventricular; Cholesterol, HDL; Vesico-Ureteral Reflux; Diabetes Mellitus; Blood Pressure; Cholesterol, LDL; Cell Adhesion Molecules; Carotid Artery Diseases; Calcium; Fibrinogen; Myocardial Infarction; Eosinophils; Celiac Disease|; psychopathic tendencies; Cholesterol	Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0001656;metanephros development;ISS|GO:0001657;ureteric bud development;IMP|GO:0001822;kidney development;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;NAS|GO:0007420;brain development;IEP|GO:0007507;heart development;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0021510;spinal cord development;IEA|GO:0021891;olfactory bulb interneuron development;ISS|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;ISS|GO:0032870;cellular response to hormone stimulus;IEP|GO:0035385;Roundabout signaling pathway;IEA|GO:0050772;positive regulation of axonogenesis;IDA|GO:0050925;negative regulation of negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS|GO:0061364;apoptotic process involved in luteolysis;IEP	GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030673;axolemma;ISS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008046;axon guidance receptor activity;IEA|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ROBO2		https://hpo.jax.org/app/browse/search?q=ROBO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602431	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO2&submit=Quick%0D%15318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO2	rs974914	0.740615	0	0	1	0	0	intergenic	intronic	intronic	ZNF717(dist=452008),ROBO2(dist=802552)	ROBO2	ENSG00000185008	Na	Na	Na	Na	Na	Na	Het;A>T	133;21|9	Hom;A>T	1168;0|46
N	N	-	3	76484183	76484183	T	C	snp	ncRNA_exonic	 	 	 	 	AC026877.1																		rs3849491	0.438099	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	ZNF717(dist=649449),ROBO2(dist=605111)	ROBO2	ENSG00000240809	Na	Na	Na	Na	Na	Na	Het;T>C	267;21|12	Hom;T>C	1276;0|45
N	N	-	3	76484466	76484466	A	G	snp	ncRNA_exonic	 	 	 	 	AC026877.1																		rs17736312	0.341653	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	ZNF717(dist=649732),ROBO2(dist=604828)	ROBO2	ENSG00000240809	Na	Na	Na	Na	Na	Na	Het;A>G	846;37|39	Hom;A>G	1545;0|57
N	N	-	3	76786877	76786877	A	G	snp	intronic	 	 	 	 	ROBO2	Robo2	ENSG00000185008	roundabout guidance receptor 2	chr3:75955846-77699115	The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Brain imaging in schizophrenia (interaction); Tobacco Use Disorder; Erythrocyte Indices; Memory; Calcium-Binding Proteins; Body Weight; Alcoholism; Schizophrenia; schizophrenia; Frontal Lobe; Glycoproteins; Hypertrophy, Left Ventricular; Cholesterol, HDL; Vesico-Ureteral Reflux; Diabetes Mellitus; Blood Pressure; Cholesterol, LDL; Cell Adhesion Molecules; Carotid Artery Diseases; Calcium; Fibrinogen; Myocardial Infarction; Eosinophils; Celiac Disease|; psychopathic tendencies; Cholesterol	Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.	Regulation of Commissural axon pathfinding by Slit and Robo	GO:0001656;metanephros development;ISS|GO:0001657;ureteric bud development;IMP|GO:0001822;kidney development;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;NAS|GO:0007420;brain development;IEP|GO:0007507;heart development;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0021510;spinal cord development;IEA|GO:0021891;olfactory bulb interneuron development;ISS|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;ISS|GO:0032870;cellular response to hormone stimulus;IEP|GO:0035385;Roundabout signaling pathway;IEA|GO:0050772;positive regulation of axonogenesis;IDA|GO:0050925;negative regulation of negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS|GO:0061364;apoptotic process involved in luteolysis;IEP	GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030673;axolemma;ISS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008046;axon guidance receptor activity;IEA|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ROBO2		https://hpo.jax.org/app/browse/search?q=ROBO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602431	http://www.informatics.jax.org/searchtool/Search.do?query=ROBO2&submit=Quick%0D%15318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO2	rs174812	0.824081	0	0	1	0	0	intergenic	intronic	intronic	ZNF717(dist=952143),ROBO2(dist=302417)	ROBO2	ENSG00000185008	Na	Na	Na	Na	Na	Na	Het;A>G	155;20|9	Hom;A>G	792;0|28
N	N	-	3	82610880	82610880	G	T	snp	intergenic	 	 	 	 	LINC02008																		rs9844170	0.592452	0	0	1	0	0	intergenic	intergenic	intergenic	GBE1(dist=799930),NONE(dist=NONE)	BC031255(dist=98054),NONE(dist=NONE)	ENSG00000239440(dist=98054),ENSG00000241095(dist=244786)	Na	Na	Na	Na	Na	Na	Het;G>T	160;10|10	Hom;G>T	731;0|28
N	N	-	3	82610954	82610954	G	A	snp	intergenic	 	 	 	 	LINC02008																		rs9844327	0.463858	0	0	1	0	0	intergenic	intergenic	intergenic	GBE1(dist=800004),NONE(dist=NONE)	BC031255(dist=98128),NONE(dist=NONE)	ENSG00000239440(dist=98128),ENSG00000241095(dist=244712)	Na	Na	Na	Na	Na	Na	Het;G>A	37;4|3	Hom;G>A	297;0|10
N	N	-	3	8364265	8364265	C	G	snp	ncRNA_intronic	 	 	 	 	LMCD1-AS1																		rs7639650	0.652756	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LMCD1-AS1	LMCD1-AS1	ENSG00000227110	Na	Na	Na	Na	Na	Na	Het;C>G	417;25|20	Hom;C>G	1205;0|44
N	N	-	3	84510909	84510909	A	G	snp	intergenic	 	 	 	 	ENSG00000221380																		rs11922036	0.78774	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),LINC00971(dist=176647)	BC031255(dist=1998083),LOC440970(dist=176647)	ENSG00000221380(dist=171505),ENSG00000266652(dist=34818)	Na	Na	Na	Na	Na	Na	Het;A>G	190;10|10	Hom;A>G	493;0|19
N	N	-	3	84688248	84688248	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00971																		rs4373074	0.497404	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00971	LOC440970	ENSG00000242641	Na	Na	Na	Na	Na	Na	Het;T>C	1570;63|70	Hom;T>C	4268;0|148
N	N	-	3	8667896	8667896	T	C	snp	intronic	 	 	 	 	SSUH2	Ssu2	ENSG00000125046	ssu-2 homolog (C. elegans)	chr3:8661086-8786726		Heart Rate	Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum.		GO:0042476;odontogenesis;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/SSUH2	https://www.uniprot.org/uniprot/Q9Y2M2		https://www.ncbi.nlm.nih.gov/omim/?term=617479	http://www.informatics.jax.org/searchtool/Search.do?query=SSUH2&submit=Quick%0D%5736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSUH2	rs355058	0.810903	0.7495	0.8035	1	0	0	intronic	intronic	intronic	SSUH2	SSUH2	ENSG00000125046	Na	Na	Na	Na	Na	Na	Het;T>C	1098;5|43	Hom;T>C	1037;0|36
N	N	-	3	8675539	8675539	G	A	snp	nonsynonymous SNV	C86T	P29L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SSUH2	Ssu2	ENSG00000125046	ssu-2 homolog (C. elegans)	chr3:8661086-8786726		Heart Rate	Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum.		GO:0042476;odontogenesis;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/SSUH2	https://www.uniprot.org/uniprot/Q9Y2M2		https://www.ncbi.nlm.nih.gov/omim/?term=617479	http://www.informatics.jax.org/searchtool/Search.do?query=SSUH2&submit=Quick%0D%5736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSUH2	rs2276800	0.333666	0.3185	0.2289	0.08	1	13	exonic	exonic	exonic	SSUH2	SSUH2	ENSG00000125046	nonsynonymous SNV	nonsynonymous SNV	unknown	SSUH2:NM_015931:exon4:c.C86T:p.P29L,	SSUH2:uc003bqz.4:exon10:c.C86T:p.P29L,SSUH2:uc003bqy.4:exon11:c.C86T:p.P29L,SSUH2:uc003bqu.4:exon4:c.C86T:p.P29L,	UNKNOWN	Het;G>A	1958;82|91	Hom;G>A	4492;1|166
N	N	-	3	8725097	8725097	C	T	snp	intronic	 	 	 	 	SSUH2	Ssu2	ENSG00000125046	ssu-2 homolog (C. elegans)	chr3:8661086-8786726		Heart Rate	Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum.		GO:0042476;odontogenesis;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/SSUH2	https://www.uniprot.org/uniprot/Q9Y2M2		https://www.ncbi.nlm.nih.gov/omim/?term=617479	http://www.informatics.jax.org/searchtool/Search.do?query=SSUH2&submit=Quick%0D%5736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSUH2	rs34685587	0.266573	0	0	1	0	0	intergenic	intronic	intronic	SSUH2(dist=31333),CAV3(dist=50389)	SSUH2	ENSG00000125046	Na	Na	Na	Na	Na	Na	Het;C>T	227;8|12	Hom;C>T	184;0|8
N	N	-	3	8730781	8730781	A	C	snp	ncRNA_exonic	 	 	 	 	OR7E122P																		rs350814	0.677516	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	SSUH2(dist=37017),CAV3(dist=44705)	SSUH2	ENSG00000215160	Na	Na	Na	Na	Na	Na	Het;A>C	181;8|9	Hom;A>C	749;0|28
N	N	-	3	88105264	88105264	A	C	snp	UTR5	-138T>G	 	 	 	CGGBP1	Cggbp1	ENSG00000163320	CGG triplet repeat binding protein 1	chr3:88101094-88199035	CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar 2008]		 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IMP|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CGGBP1			https://www.ncbi.nlm.nih.gov/omim/?term=603363	http://www.informatics.jax.org/searchtool/Search.do?query=CGGBP1&submit=Quick%0D%10933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CGGBP1	rs3732776	0.783347	0	0	1	0	0	intronic	intronic	UTR5	CGGBP1	CGGBP1	ENSG00000163320(ENST00000398392:c.-138T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	81;2|3	Hom;A>C	137;0|4
N	N	-	3	88145070	88145070	C	T	snp	ncRNA_exonic	 	 	 	 	CBX5P1																		rs9310074	0.69369	0	0	1	0	0	intronic	intronic	ncRNA_exonic	CGGBP1	CGGBP1	ENSG00000241535	Na	Na	Na	Na	Na	Na	Het;C>T	107;10|7	Hom;C>T	1022;0|38
N	N	-	3	88188420	88188420	G	A	snp	UTR5	-41G>A	 	 	 	ZNF654	Zfp654	ENSG00000175105	zinc finger protein 654	chr3:88188254-88193815			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF654				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF654&submit=Quick%0D%13636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF654	rs9813894	0.783347	0.7854	0.8381	1	0	0	UTR5	UTR5	UTR5	ZNF654(NM_018293:c.-41G>A)	ZNF654(uc003dqv.3:c.-41G>A)	ENSG00000175105(ENST00000309495:c.-41G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	232;32|13	Hom;G>A	857;0|29
N	N	-	3	88189341	88189341	T	C	snp	nonsynonymous SNV	T881C	I294T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ZNF654	Zfp654	ENSG00000175105	zinc finger protein 654	chr3:88188254-88193815			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF654				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF654&submit=Quick%0D%13636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF654	rs7653652	0.783147	0.7868	0.8426	0.15	2	13	exonic	exonic	exonic	ZNF654	ZNF654	ENSG00000175105	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF654:NM_018293:exon1:c.T881C:p.I294T,	ZNF654:uc003dqv.3:exon1:c.T881C:p.I294T,	UNKNOWN	Het;T>C	1098;63|56	Hom;T>C	2834;0|95
N	N	-	3	88190768	88190768	C	A	snp	intronic	 	 	 	 	CGGBP1	Cggbp1	ENSG00000163320	CGG triplet repeat binding protein 1	chr3:88101094-88199035	CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar 2008]		 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IMP|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CGGBP1			https://www.ncbi.nlm.nih.gov/omim/?term=603363	http://www.informatics.jax.org/searchtool/Search.do?query=CGGBP1&submit=Quick%0D%10933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CGGBP1	rs7432826	0.960463	0.9193	0.9061	1	0	0	intronic	intronic	intronic	CGGBP1,ZNF654	CGGBP1,ZNF654	ENSG00000163320,ENSG00000175105	Na	Na	Na	Na	Na	Na	Het;C>A	361;39|20	Hom;C>A	1200;0|46
N	N	-	3	88190809	88190809	C	T	snp	UTR3	*7C>T	 	 	 	ZNF654	Zfp654	ENSG00000175105	zinc finger protein 654	chr3:88188254-88193815			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF654				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF654&submit=Quick%0D%13636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF654	rs7432838	0.881589	0.8486	0.8486	1	0	0	UTR3	UTR3	UTR3	ZNF654(NM_018293:c.*7C>T)	ZNF654(uc003dqv.3:c.*7C>T)	ENSG00000175105(ENST00000309495:c.*7C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	408;47|25	Hom;C>T	1550;0|60
N	N	-	3	88199179	88199179	T	C	snp	UTR5	-24T>C	 	 	 	C3orf38	4930453N24Rik	ENSG00000179021	chromosome 3 open reading frame 38	chr3:88198893-88217879		Socioeconomic Factors; monocyte chemoattractant protein 1 (66-77); Acetaminophen; Basophils; Blood Coagulation Factors	Homozygous mutants show arrested eruption of incisors causing dentin formation to continue and occlude the pulp chamber. Mice also display small size, reduced ear pinna, and have abnormal coat color and patterning.		GO:0006915;apoptotic process;IEA			http://www.genecards.org/index.php?path=/Search/keyword/C3orf38				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf38&submit=Quick%0D%14274ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf38	rs6551277	0.791334	0.7832	0.8443	1	0	0	UTR5	UTR5	UTR5	C3orf38(NM_173824:c.-24T>C)	C3orf38(uc003dqw.3:c.-24T>C)	ENSG00000179021(ENST00000318887:c.-24T>C,ENST00000486971:c.-24T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	694;36|32	Hom;T>C	1619;0|56
N	N	-	3	88199185	88199185	T	TC	indel	UTR5	-18T>TC	 	 	 	C3orf38	4930453N24Rik	ENSG00000179021	chromosome 3 open reading frame 38	chr3:88198893-88217879		Socioeconomic Factors; monocyte chemoattractant protein 1 (66-77); Acetaminophen; Basophils; Blood Coagulation Factors	Homozygous mutants show arrested eruption of incisors causing dentin formation to continue and occlude the pulp chamber. Mice also display small size, reduced ear pinna, and have abnormal coat color and patterning.		GO:0006915;apoptotic process;IEA			http://www.genecards.org/index.php?path=/Search/keyword/C3orf38				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf38&submit=Quick%0D%14274ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf38	rs11374933	0	0.7264	0.8218	1	0	0	UTR5	UTR5	UTR5	C3orf38(NM_173824:c.-18T>TC)	C3orf38(uc003dqw.3:c.-18T>TC)	ENSG00000179021(ENST00000318887:c.-18T>TC,ENST00000486971:c.-18T>TC)	Na	Na	Na	Na	Na	Na	Het;+C	768;41|34	Hom;+C	1476;6|56
N	N	-	3	88199298	88199298	T	C	snp	synonymous SNV	T96C	T32T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C3orf38	4930453N24Rik	ENSG00000179021	chromosome 3 open reading frame 38	chr3:88198893-88217879		Socioeconomic Factors; monocyte chemoattractant protein 1 (66-77); Acetaminophen; Basophils; Blood Coagulation Factors	Homozygous mutants show arrested eruption of incisors causing dentin formation to continue and occlude the pulp chamber. Mice also display small size, reduced ear pinna, and have abnormal coat color and patterning.		GO:0006915;apoptotic process;IEA			http://www.genecards.org/index.php?path=/Search/keyword/C3orf38				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf38&submit=Quick%0D%14274ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf38	rs6551278	0.783347	0.7739	0.8413	1	0	0	exonic	exonic	exonic	C3orf38	C3orf38	ENSG00000179021	synonymous SNV	synonymous SNV	unknown	C3orf38:NM_173824:exon1:c.T96C:p.T32T,	C3orf38:uc003dqw.3:exon1:c.T96C:p.T32T,	UNKNOWN	Het;T>C	1003;82|52	Hom;T>C	4352;2|169
N	N	-	3	88455705	88455705	T	C	snp	intergenic	 	 	 	 	ABCF2P1																		rs12634688	0.141773	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf38(dist=248590),EPHA3(dist=700969)	C3orf38(dist=248590),EPHA3(dist=700969)	ENSG00000242159(dist=87533),ENSG00000207316(dist=24636)	Na	Na	Na	Na	Na	Na	Het;T>C	62;9|4	Hom;T>C	430;0|13
N	N	-	3	88505853	88505853	T	C	snp	intergenic	 	 	 	 	Y_RNA																		rs35889670	0.330871	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf38(dist=298738),EPHA3(dist=650821)	C3orf38(dist=298738),EPHA3(dist=650821)	ENSG00000207316(dist=25394),ENSG00000242365(dist=144358)	Na	Na	Na	Na	Na	Na	Het;T>C	216;32|9	Hom;T>C	1479;2|37
N	N	-	3	88505876	88505876	A	C	snp	intergenic	 	 	 	 	Y_RNA																		rs35381778	0.334065	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf38(dist=298761),EPHA3(dist=650798)	C3orf38(dist=298761),EPHA3(dist=650798)	ENSG00000207316(dist=25417),ENSG00000242365(dist=144335)	Na	Na	Na	Na	Na	Na	Het;A>C	244;31|9	Hom;A>C	1454;2|37
N	N	-	3	88604818	88604818	T	C	snp	intergenic	 	 	 	 	Y_RNA																		rs6551343	0.239617	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf38(dist=397703),EPHA3(dist=551856)	C3orf38(dist=397703),EPHA3(dist=551856)	ENSG00000207316(dist=124359),ENSG00000242365(dist=45393)	Na	Na	Na	Na	Na	Na	Het;T>C	2087;91|103	Hom;T>C	6386;0|234
N	N	-	3	88604947	88604947	T	C	snp	intergenic	 	 	 	 	Y_RNA																		rs6551344	0.239417	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf38(dist=397832),EPHA3(dist=551727)	C3orf38(dist=397832),EPHA3(dist=551727)	ENSG00000207316(dist=124488),ENSG00000242365(dist=45264)	Na	Na	Na	Na	Na	Na	Het;T>C	243;13|8	Hom;T>C	1025;0|27
N	N	-	3	88703591	88703591	A	G	snp	intergenic	 	 	 	 	NDUFA5P5																		rs1979750	0.30611	0	0	1	0	0	intergenic	intergenic	intergenic	C3orf38(dist=496476),EPHA3(dist=453083)	C3orf38(dist=496476),EPHA3(dist=453083)	ENSG00000242365(dist=53039),ENSG00000242705(dist=293701)	Na	Na	Na	Na	Na	Na	Het;A>G	172;12|7	Hom;A>G	377;0|12
N	N	-	3	9390345	9390345	T	C	snp	ncRNA_exonic	 	 	 	 	PGAM1P4																		rs2728938	0.490216	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SRGAP3(dist=98976),THUMPD3(dist=14372)	SRGAP3(dist=98976),THUMPD3(dist=14372)	ENSG00000214041	Na	Na	Na	Na	Na	Na	Het;T>C	454;81|26	Hom;T>C	2125;0|73
N	N	-	3	9391300	9391300	A	G	snp	ncRNA_intronic	 	 	 	 	AC026191.1																		rs2728937	0.91274	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	SRGAP3(dist=99931),THUMPD3(dist=13417)	SRGAP3(dist=99931),THUMPD3(dist=13417)	ENSG00000254485	Na	Na	Na	Na	Na	Na	Het;A>G	232;17|11	Hom;A>G	798;0|29
N	N	-	3	9406836	9406836	T	C	snp	synonymous SNV	T84C	S28S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	THUMPD3	Thumpd3	ENSG00000134077	THUMP domain containing 3	chr3:9404526-9428475			 		GO:0032259;methylation;IEA	GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THUMPD3	https://www.uniprot.org/uniprot/Q9BV44			http://www.informatics.jax.org/searchtool/Search.do?query=THUMPD3&submit=Quick%0D%6910ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THUMPD3	rs1054975	0.619209	0.5904	0.6160	1	0	0	exonic	exonic	exonic	THUMPD3	THUMPD3	ENSG00000134077	synonymous SNV	synonymous SNV	unknown	THUMPD3:NM_001114092:exon2:c.T84C:p.S28S,THUMPD3:NM_015453:exon2:c.T84C:p.S28S,	THUMPD3:uc003brn.4:exon2:c.T84C:p.S28S,THUMPD3:uc003bro.4:exon2:c.T84C:p.S28S,	UNKNOWN	Het;T>C	1597;63|73	Hom;T>C	3657;0|125
N	N	-	3	9407022	9407022	T	C	snp	ncRNA_intronic	 	 	 	 	THUMPD3-AS1																		rs2648536	0.63099	0.5973	0.6202	1	0	0	intronic	intronic	ncRNA_intronic	THUMPD3	THUMPD3	ENSG00000206573	Na	Na	Na	Na	Na	Na	Het;T>C	1396;40|55	Hom;T>C	3288;2|108
N	N	-	3	9408443	9408443	A	C	snp	ncRNA_intronic	 	 	 	 	THUMPD3-AS1																		rs2648535	0.619409	0	0	1	0	0	intronic	intronic	ncRNA_intronic	THUMPD3	THUMPD3	ENSG00000206573	Na	Na	Na	Na	Na	Na	Het;A>C	112;1|4	Hom;A>C	93;0|3
N	N	-	3	9422210	9422210	T	C	snp	synonymous SNV	T1032C	C344C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	THUMPD3	Thumpd3	ENSG00000134077	THUMP domain containing 3	chr3:9404526-9428475			 		GO:0032259;methylation;IEA	GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THUMPD3	https://www.uniprot.org/uniprot/Q9BV44			http://www.informatics.jax.org/searchtool/Search.do?query=THUMPD3&submit=Quick%0D%6910ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THUMPD3	rs2596916	0.617212	0.5893	0.6157	1	0	0	exonic	exonic	exonic	THUMPD3	THUMPD3	ENSG00000134077	synonymous SNV	synonymous SNV	unknown	THUMPD3:NM_001114092:exon7:c.T1032C:p.C344C,THUMPD3:NM_015453:exon7:c.T1032C:p.C344C,	THUMPD3:uc003brn.4:exon7:c.T1032C:p.C344C,THUMPD3:uc003bro.4:exon7:c.T1032C:p.C344C,	UNKNOWN	Het;T>C	1205;34|53	Hom;T>C	1641;0|58
N	N	-	3	9425911	9425911	G	A	snp	synonymous SNV	G1251A	K417K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	THUMPD3	Thumpd3	ENSG00000134077	THUMP domain containing 3	chr3:9404526-9428475			 		GO:0032259;methylation;IEA	GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THUMPD3	https://www.uniprot.org/uniprot/Q9BV44			http://www.informatics.jax.org/searchtool/Search.do?query=THUMPD3&submit=Quick%0D%6910ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THUMPD3	rs1129170	0.604433	0.5769	0.6036	1	0	0	exonic	exonic	exonic	THUMPD3	THUMPD3	ENSG00000134077	synonymous SNV	synonymous SNV	unknown	THUMPD3:NM_001114092:exon9:c.G1251A:p.K417K,THUMPD3:NM_015453:exon9:c.G1251A:p.K417K,	THUMPD3:uc003brn.4:exon9:c.G1251A:p.K417K,THUMPD3:uc003bro.4:exon9:c.G1251A:p.K417K,	UNKNOWN	Het;G>A	1247;58|58	Hom;G>A	3399;4|132
N	N	-	3	94409604	94409604	T	C	snp	intergenic	 	 	 	 	ARMC10P1																		rs1447861	0.694289	0	0	1	0	0	intergenic	intergenic	intergenic	MIR6730(dist=99928),LINC00879(dist=247503)	NSUN3(dist=563974),LINC00879(dist=247503)	ENSG00000178660(dist=183140),ENSG00000242911(dist=245000)	Na	Na	Na	Na	Na	Na	Het;T>C	331;16|15	Hom;T>C	703;0|25
N	N	-	3	9495385	9495385	A	G	snp	intronic	 	 	 	 	SETD5	Setd5	ENSG00000168137	SET domain containing 5	chr3:9439299-9520924	This function of this gene has yet to be determined but mutations in this gene have been associated with autosomal dominant mental retardation-23. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]	Mental retardation autosomal dominant 23	 					http://www.genecards.org/index.php?path=/Search/keyword/SETD5		https://hpo.jax.org/app/browse/search?q=SETD5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615743	http://www.informatics.jax.org/searchtool/Search.do?query=SETD5&submit=Quick%0D%12203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETD5	rs2648580	0.63758	0.6560	0.7048	1	0	0	intronic	intronic	intronic	SETD5	SETD5	ENSG00000168137	Na	Na	Na	Na	Na	Na	Het;A>G	388;22|18	Hom;A>G	1225;0|42
N	N	-	3	95702183	95702183	T	C	snp	intergenic	 	 	 	 	MTHFD2P1																		rs7611319	0.688498	0	0	1	0	0	intergenic	intergenic	intergenic	MTHFD2P1(dist=300146),MIR8060(dist=376625)	LOC100287639(dist=300146),Mir_548(dist=682857)	ENSG00000244681(dist=300146),ENSG00000221477(dist=183478)	Na	Na	Na	Na	Na	Na	Het;T>C	278;7|12	Hom;T>C	248;0|9
N	N	-	3	96001936	96001936	G	T	snp	intergenic	 	 	 	 	AC107304.1																		rs13087244	0.709665	0	0	1	0	0	intergenic	intergenic	intergenic	MTHFD2P1(dist=599899),MIR8060(dist=76872)	LOC100287639(dist=599899),Mir_548(dist=383104)	ENSG00000271671(dist=37757),ENSG00000243547(dist=66462)	Na	Na	Na	Na	Na	Na	Het;G>T	49;8|4	Hom;G>T	386;0|14
N	N	-	3	96069450	96069452	CAT	C	indel	ncRNA_exonic	 	 	 	 	HNRNPKP4																		rs34039875	0.315495	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MTHFD2P1(dist=667413),MIR8060(dist=9356)	LOC100287639(dist=667413),Mir_548(dist=315588)	ENSG00000243547	Na	Na	Na	Na	Na	Na	Het;-AT	186;7|6	Hom;-AT	583;0|14
N	N	-	3	97499654	97499654	T	A	snp	intronic	 	 	 	 	ARL6	Arl6	ENSG00000113966	ADP ribosylation factor like GTPase 6	chr3:97483365-97519953	The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]	male infertility; adiposity; Type 2 Diabetes| edema | rosiglitazone; Retinal Diseases	Mice homozygous for a targeted allele exhibit a disorganized photoreceptor inner segment and craniofacial abnormalitries.  Male mice are sterile.	BBSome-mediated cargo-targeting to cilium	GO:0006612;protein targeting to membrane;ISS|GO:0006810;transport;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0007420;brain development;IEA|GO:0007601;visual perception;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0010842;retina layer formation;IEA|GO:0015031;protein transport;IEA|GO:0016055;Wnt signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0032402;melanosome transport;ISS|GO:0045444;fat cell differentiation;IEA|GO:0050896;response to stimulus;IEA|GO:0051258;protein polymerization;ISS|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:0097499;protein localization to non-motile cilium;IEA|GO:1903445;protein transport from ciliary membrane to plasma membrane;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005879;axonemal microtubule;ISS|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0016020;membrane;IEA|GO:0030117;membrane coat;ISS|GO:0034464;BBSome;ISS|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0005543;phospholipid binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL6	https://www.uniprot.org/uniprot/Q9H0F7	https://hpo.jax.org/app/browse/search?q=ARL6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608845	http://www.informatics.jax.org/searchtool/Search.do?query=ARL6&submit=Quick%0D%4421ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL6	rs10935082	0.805511	0	0	1	0	0	intronic	intronic	intronic	ARL6	ARL6	ENSG00000113966	Na	Na	Na	Na	Na	Na	Het;T>A	81;9|5	Hom;T>A	370;0|12
N	N	-	3	97541018	97541018	C	T	snp	UTR5	-33C>T	 	 	 	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs974572	0.460463	0	0.5681	1	0	0	UTR5	UTR5	UTR5	CRYBG3(NM_153605:c.-33C>T)	CRYBG3(uc021xbn.2:c.-33C>T)	ENSG00000233280(ENST00000419587:c.-33C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	162;22|10	Hom;C>T	783;0|30
N	N	-	3	97593380	97593380	G	A	snp	synonymous SNV	G3342A	T1114T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs2279898	0.139177	0	0.1379	1	0	0	exonic	exonic	exonic	CRYBG3	CRYBG3	ENSG00000233280	synonymous SNV	synonymous SNV	unknown	CRYBG3:NM_153605:exon4:c.G3342A:p.T1114T,	CRYBG3:uc021xbn.2:exon4:c.G3342A:p.T1114T,	UNKNOWN	Het;G>A	1657;126|84	Hom;G>A	5025;0|184
N	N	-	3	97594261	97594261	G	A	snp	nonsynonymous SNV	G4223A	G1408E	aliphatic,neutral	polar,hydrophilic,charged(-)	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs6782766	0.474641	0	0	0.67	2	3	exonic	exonic	downstream	CRYBG3	CRYBG3	ENSG00000233280	nonsynonymous SNV	nonsynonymous SNV	Na	CRYBG3:NM_153605:exon4:c.G4223A:p.G1408E,	CRYBG3:uc021xbn.2:exon4:c.G4223A:p.G1408E,	Na	Het;G>A	1930;66|85	Hom;G>A	2765;3|108
N	N	-	3	97595379	97595379	G	A	snp	nonsynonymous SNV	G5341A	V1781M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs6786354	0.475439	0	0	0.00	0	3	exonic	exonic	upstream	CRYBG3	CRYBG3	ENSG00000080200	nonsynonymous SNV	nonsynonymous SNV	Na	CRYBG3:NM_153605:exon4:c.G5341A:p.V1781M,	CRYBG3:uc021xbn.2:exon4:c.G5341A:p.V1781M,	Na	Het;G>A	1079;80|54	Hom;G>A	3200;1|119
N	N	-	3	97605677	97605677	A	G	snp	intronic	 	 	 	 	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs831902	0.482628	0	0	1	0	0	intronic	intronic	intronic	CRYBG3	CRYBG3	ENSG00000080200	Na	Na	Na	Na	Na	Na	Het;A>G	564;18|26	Hom;A>G	1277;0|42
N	N	-	3	97611916	97611916	A	C	snp	intronic	 	 	 	 	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs1506441	0.474441	0	0	1	0	0	intronic	intronic	intronic	CRYBG3	CRYBG3	ENSG00000080200	Na	Na	Na	Na	Na	Na	Het;A>C	703;21|31	Hom;A>C	1200;0|39
N	N	-	3	97619250	97619250	C	CAACTA	indel	intronic	 	 	 	 	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs5851085	0.481829	0.4240	0.5031	1	0	0	intronic	intronic	intronic	CRYBG3	CRYBG3	ENSG00000080200	Na	Na	Na	Na	Na	Na	Het;+AACTA	1804;51|46	Hom;+AACTA	4870;0|103
N	N	-	3	97660106	97660106	A	C	snp	nonsynonymous SNV	A8620C	N2874H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs4857302	0.48143	0.4445	0.5083	0.40	4	10	exonic	exonic	exonic	CRYBG3	CRYBG3	ENSG00000080200	nonsynonymous SNV	nonsynonymous SNV	unknown	CRYBG3:NM_153605:exon20:c.A8620C:p.N2874H,	CRYBG3:uc021xbn.2:exon20:c.A8620C:p.N2874H,	UNKNOWN	Het;A>C	1129;84|56	Hom;A>C	3216;1|117
N	N	-	3	97660198	97660198	A	G	snp	intronic	 	 	 	 	CRYBG3	Crybg3	ENSG00000080200	crystallin beta-gamma domain containing 3	chr3:97595819-97663810		Tobacco Use Disorder	 				GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3	https://www.uniprot.org/uniprot/Q68DQ2			http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3	rs832089	0.768371	0.7672	0.8038	1	0	0	intronic	intronic	intronic	CRYBG3	CRYBG3	ENSG00000080200	Na	Na	Na	Na	Na	Na	Het;A>G	713;49|38	Hom;A>G	2848;0|100
N	N	-	3	97664725	97664725	C	T	snp	nonsynonymous SNV	G1156A	A386T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MINA	Mina																	rs2172257	0.478035	0.4390	0.5041	0.08	1	13	exonic	exonic	exonic	MINA	MINA	ENSG00000170854	nonsynonymous SNV	nonsynonymous SNV	unknown	MINA:NM_153182:exon9:c.G1156A:p.A386T,MINA:NM_001261829:exon9:c.G1153A:p.A385T,MINA:NM_001042533:exon9:c.G1156A:p.A386T,MINA:NM_032778:exon9:c.G1153A:p.A385T,	MINA:uc003dsb.1:exon9:c.G1156A:p.A386T,MINA:uc003dsc.1:exon9:c.G1153A:p.A385T,MINA:uc003drz.2:exon9:c.G1156A:p.A386T,MINA:uc003dsa.2:exon9:c.G1153A:p.A385T,	UNKNOWN	Het;C>T	1177;55|58	Hom;C>T	1970;0|75
N	N	-	3	97726747	97726747	T	A	snp	unknown	 	 	 	 	GABRR3	Gabrr3	ENSG00000183185	gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene)	chr3:97705517-97754148	The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]	Bipolar Disorder; Hemoglobin A, Glycosylated; several psychiatric disorders	 	GABA A (rho) receptor activation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;NAS|GO:0007268;chemical synaptic transmission;NAS|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004890;GABA-A receptor activity;NAS|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRR3				http://www.informatics.jax.org/searchtool/Search.do?query=GABRR3&submit=Quick%0D%14939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRR3	rs832032	0.827276	0.7819	0.8158	1	0	0	exonic	ncRNA_exonic	exonic	GABRR3	GABRR3	ENSG00000183185	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;T>A	1240;62|60	Hom;T>A	4995;0|186
N	N	-	3	97727727	97727727	G	C	snp	ncRNA_intronic	 	 	 	 	GABRR3	Gabrr3	ENSG00000183185	gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene)	chr3:97705517-97754148	The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]	Bipolar Disorder; Hemoglobin A, Glycosylated; several psychiatric disorders	 	GABA A (rho) receptor activation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;NAS|GO:0007268;chemical synaptic transmission;NAS|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004890;GABA-A receptor activity;NAS|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRR3				http://www.informatics.jax.org/searchtool/Search.do?query=GABRR3&submit=Quick%0D%14939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRR3	rs832030	0.78155	0	0	1	0	0	intronic	ncRNA_intronic	intronic	GABRR3	GABRR3	ENSG00000183185	Na	Na	Na	Na	Na	Na	Het;G>C	298;6|12	Hom;G>C	387;0|13
N	N	-	3	97727753	97727753	G	A	snp	ncRNA_intronic	 	 	 	 	GABRR3	Gabrr3	ENSG00000183185	gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene)	chr3:97705517-97754148	The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]	Bipolar Disorder; Hemoglobin A, Glycosylated; several psychiatric disorders	 	GABA A (rho) receptor activation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;NAS|GO:0007268;chemical synaptic transmission;NAS|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA	GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004890;GABA-A receptor activity;NAS|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRR3				http://www.informatics.jax.org/searchtool/Search.do?query=GABRR3&submit=Quick%0D%14939ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRR3	rs832029	0.781749	0.7405	0.7962	1	0	0	intronic	ncRNA_intronic	intronic	GABRR3	GABRR3	ENSG00000183185	Na	Na	Na	Na	Na	Na	Het;G>A	317;14|14	Hom;G>A	701;0|25
N	N	-	3	98970289	98970289	G	A	snp	intergenic	 	 	 	 	ACTG1P13																		rs7631722	0.840455	0	0	1	0	0	intergenic	intergenic	intergenic	DCBLD2(dist=349756),MIR548G(dist=302864)	DCBLD2(dist=349756),MIR548G(dist=302864)	ENSG00000241305(dist=35179),ENSG00000240572(dist=74932)	Na	Na	Na	Na	Na	Na	Het;G>A	727;31|30	Hom;G>A	1769;0|61
N	N	-	3	99535436	99535437	GT	G	indel	ncRNA_intronic	 	 	 	 	MIR548G																		rs34514832	0.76857	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	MIR548G	MIR548G	ENSG00000273374(dist=10534),ENSG00000184220(dist=1241)	Na	Na	Na	Na	Na	Na	Het;-T	90;14|7	Hom;-T	818;0|32
N	N	-	3	99536206	99536220	GGGCGAGCCTTTCCA	G	indel	ncRNA_exonic	 	 	 	 	HP09053																		rs139745021	0	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	upstream	HP09053	MIR548G	ENSG00000184220	Na	Na	Na	Na	Na	Na	Het;-GGCGAGCCTTTCCA	2832;145|80	Hom;-GGCGAGCCTTTCCA	6175;2|143
N	N	-	3	9979660	9979660	A	G	snp	intronic	 	 	 	 	CRELD1	Creld1	ENSG00000163703	cysteine rich with EGF like domains 1	chr3:9975506-9987097	This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]	Cleft Lip|Cleft Palate	Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5.		GO:0003197;endocardial cushion development;TAS|GO:0003279;cardiac septum development;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRELD1		https://hpo.jax.org/app/browse/search?q=CRELD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607170	http://www.informatics.jax.org/searchtool/Search.do?query=CRELD1&submit=Quick%0D%11064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRELD1	rs2302786	0.404752	0.4311	0.3077	1	0	0	intronic	intronic	intronic	CRELD1	CRELD1	ENSG00000163703	Na	Na	Na	Na	Na	Na	Het;A>G	463;14|23	Hom;A>G	857;0|34
N	N	-	3	9985457	9985457	T	C	snp	intronic	 	 	 	 	CRELD1	Creld1	ENSG00000163703	cysteine rich with EGF like domains 1	chr3:9975506-9987097	This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]	Cleft Lip|Cleft Palate	Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5.		GO:0003197;endocardial cushion development;TAS|GO:0003279;cardiac septum development;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRELD1		https://hpo.jax.org/app/browse/search?q=CRELD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607170	http://www.informatics.jax.org/searchtool/Search.do?query=CRELD1&submit=Quick%0D%11064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRELD1	rs9878047	0.38099	0	0	1	0	0	intronic	intronic	intronic	CRELD1	CRELD1	ENSG00000163703	Na	Na	Na	Na	Na	Na	Het;T>C	97;5|4	Hom;T>C	163;0|5
N	N	-	3	9985656	9985656	C	T	snp	synonymous SNV	C1119T	H373H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	CRELD1	Creld1	ENSG00000163703	cysteine rich with EGF like domains 1	chr3:9975506-9987097	This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]	Cleft Lip|Cleft Palate	Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5.		GO:0003197;endocardial cushion development;TAS|GO:0003279;cardiac septum development;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRELD1		https://hpo.jax.org/app/browse/search?q=CRELD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607170	http://www.informatics.jax.org/searchtool/Search.do?query=CRELD1&submit=Quick%0D%11064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRELD1	rs3774207	0.379992	0.4055	0.2785	1	0	0	exonic	exonic	exonic	CRELD1	CRELD1	ENSG00000163703	synonymous SNV	synonymous SNV	unknown	CRELD1:NM_001031717:exon11:c.C1119T:p.H373H,	CRELD1:uc003buf.3:exon11:c.C1119T:p.H373H,	UNKNOWN	Het;C>T	950;84|49	Hom;C>T	2625;4|104
N	N	-	3	9990800	9990800	G	C	snp	nonsynonymous SNV	C1000G	R334G	polar,hydrophilic,charged(+)	aliphatic,neutral	PRRT3	Prrt3	ENSG00000163704	proline rich transmembrane protein 3	chr3:9987226-9994078			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRRT3				http://www.informatics.jax.org/searchtool/Search.do?query=PRRT3&submit=Quick%0D%11065ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRT3	rs59465469	0.38139	0.3874	0.2820	0.08	1	13	exonic	exonic	exonic	PRRT3	PRRT3	ENSG00000163704	nonsynonymous SNV	nonsynonymous SNV	unknown	PRRT3:NM_207351:exon2:c.C1000G:p.R334G,	PRRT3:uc003bul.2:exon2:c.C1000G:p.R334G,PRRT3:uc003bum.3:exon2:c.C1000G:p.R334G,	UNKNOWN	Het;G>C	594;33|25	Hom;G>C	1687;0|60
N	N	-	3	9991101	9991101	C	G	snp	nonsynonymous SNV	G699C	L233F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	PRRT3	Prrt3	ENSG00000163704	proline rich transmembrane protein 3	chr3:9987226-9994078			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRRT3				http://www.informatics.jax.org/searchtool/Search.do?query=PRRT3&submit=Quick%0D%11065ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRT3	rs55847233	0.382388	0.3935	0.2778	0.08	1	13	exonic	exonic	exonic	PRRT3	PRRT3	ENSG00000163704	nonsynonymous SNV	nonsynonymous SNV	unknown	PRRT3:NM_207351:exon2:c.G699C:p.L233F,	PRRT3:uc003bul.2:exon2:c.G699C:p.L233F,PRRT3:uc003bum.3:exon2:c.G699C:p.L233F,	UNKNOWN	Het;C>G	1611;78|72	Hom;C>G	4041;0|140
N	N	-	3	9991163	9991163	A	G	snp	nonsynonymous SNV	T637C	S213P	polar,hydrophilic,neutral	hydrophobic,neutral	PRRT3	Prrt3	ENSG00000163704	proline rich transmembrane protein 3	chr3:9987226-9994078			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PRRT3				http://www.informatics.jax.org/searchtool/Search.do?query=PRRT3&submit=Quick%0D%11065ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRT3	rs55847610	0.381989	0.3857	0.2776	0.08	1	13	exonic	exonic	exonic	PRRT3	PRRT3	ENSG00000163704	nonsynonymous SNV	nonsynonymous SNV	unknown	PRRT3:NM_207351:exon2:c.T637C:p.S213P,	PRRT3:uc003bul.2:exon2:c.T637C:p.S213P,PRRT3:uc003bum.3:exon2:c.T637C:p.S213P,	UNKNOWN	Het;A>G	1402;86|60	Hom;A>G	3992;0|138
N	N	-	3	99944694	99944694	T	G	snp	ncRNA_exonic	 	 	 	 	VTI1BP1																		rs59233020	0.300519	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TMEM30C(dist=31664),TBC1D23(dist=34967)	TMEM30C(dist=31664),TBC1D23(dist=34967)	ENSG00000243974	Na	Na	Na	Na	Na	Na	Het;T>G	87;3|5	Hom;T>G	298;0|12
N	N	-	3	9996426	9996426	T	C	snp	ncRNA_exonic	 	 	 	 	PRRT3-AS1																		rs3846167	0.359026	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PRRT3-AS1	PRRT3-AS1	ENSG00000230082	Na	Na	Na	Na	Na	Na	Het;T>C	1539;73|68	Hom;T>C	3997;0|146
N	N	-	4	100010127	100010127	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100507053																		rs2851301	0.285743	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507053	LOC100507053	ENSG00000246090	Na	Na	Na	Na	Na	Na	Het;C>T	3066;80|80	Hom;C>T	5146;1|117
N	N	-	4	100010128	100010128	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100507053																		rs2602899	0.285743	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507053	LOC100507053	ENSG00000246090	Na	Na	Na	Na	Na	Na	Het;C>T	3066;80|80	Hom;C>T	5146;1|116
N	N	-	4	100047929	100047929	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100507053																		rs10009145	0.281749	0.3361	0.3928	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100507053	LOC100507053	ENSG00000246090	Na	Na	Na	Na	Na	Na	Het;G>A	609;32|29	Hom;G>A	1595;0|57
N	N	-	4	100054788	100054789	AT	A	indel	ncRNA_exonic	 	 	 	 	LOC100507053																		rs4148890	0.33766	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100507053	LOC100507053	ENSG00000246090	Na	Na	Na	Na	Na	Na	Het;-T	830;33|31	Hom;-T	2271;0|68
N	N	-	4	100445763	100445767	GCTAT	G	indel	intronic	 	 	 	 	C4orf17	4930579F01Rik	ENSG00000138813	chromosome 4 open reading frame 17	chr4:100432161-100463460			 					http://www.genecards.org/index.php?path=/Search/keyword/C4orf17	https://www.uniprot.org/uniprot/Q53FE4			http://www.informatics.jax.org/searchtool/Search.do?query=C4orf17&submit=Quick%0D%7811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf17	rs61598233	0.240216	0.2377	0.2249	1	0	0	intronic	intronic	intronic	C4orf17	C4orf17	ENSG00000138813	Na	Na	Na	Na	Na	Na	Het;-CTAT	734;23|20	Hom;-CTAT	1741;0|40
N	N	-	4	100451197	100451197	C	T	snp	intronic	 	 	 	 	C4orf17	4930579F01Rik	ENSG00000138813	chromosome 4 open reading frame 17	chr4:100432161-100463460			 					http://www.genecards.org/index.php?path=/Search/keyword/C4orf17	https://www.uniprot.org/uniprot/Q53FE4			http://www.informatics.jax.org/searchtool/Search.do?query=C4orf17&submit=Quick%0D%7811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf17	rs2089079	0.375	0	0	1	0	0	intronic	intronic	intronic	C4orf17	C4orf17	ENSG00000138813	Na	Na	Na	Na	Na	Na	Het;C>T	324;10|13	Hom;C>T	1042;0|36
N	N	-	4	100459028	100459028	C	T	snp	intronic	 	 	 	 	C4orf17	4930579F01Rik	ENSG00000138813	chromosome 4 open reading frame 17	chr4:100432161-100463460			 					http://www.genecards.org/index.php?path=/Search/keyword/C4orf17	https://www.uniprot.org/uniprot/Q53FE4			http://www.informatics.jax.org/searchtool/Search.do?query=C4orf17&submit=Quick%0D%7811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf17	rs10516443	0.2502	0	0	1	0	0	intronic	intronic	intronic	C4orf17	C4orf17	ENSG00000138813	Na	Na	Na	Na	Na	Na	Het;C>T	119;5|5	Hom;C>T	234;0|8
N	N	-	4	100472229	100472245	GATTTATAGTTCAGAGA	G	indel	intronic	 	 	 	 	TRMT10A	Trmt10a	ENSG00000145331	tRNA methyltransferase 10A	chr4:100467866-100485189	This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]	MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 1	Mice homozygous for a knock-out allele exhibit increased circulating magnesium level.	tRNA modification in the nucleus and cytosol	GO:0030488;tRNA methylation;IDA|GO:0032259;methylation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000049;tRNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0008168;methyltransferase activity;IEA|GO:0009019;tRNA (guanine-N1-)-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT10A	https://www.uniprot.org/uniprot/Q8TBZ6	https://hpo.jax.org/app/browse/search?q=TRMT10A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616013	http://www.informatics.jax.org/searchtool/Search.do?query=TRMT10A&submit=Quick%0D%8722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT10A	rs11274750	0.249401	0	0	1	0	0	intronic	intronic	intronic	TRMT10A	TRMT10A	ENSG00000145331	Na	Na	Na	Na	Na	Na	Het;-ATTTATAGTTCAGAGA	410;16|13	Hom;-ATTTATAGTTCAGAGA	1320;0|32
N	N	-	4	100477462	100477462	C	T	snp	intronic	 	 	 	 	TRMT10A	Trmt10a	ENSG00000145331	tRNA methyltransferase 10A	chr4:100467866-100485189	This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]	MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 1	Mice homozygous for a knock-out allele exhibit increased circulating magnesium level.	tRNA modification in the nucleus and cytosol	GO:0030488;tRNA methylation;IDA|GO:0032259;methylation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000049;tRNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0008168;methyltransferase activity;IEA|GO:0009019;tRNA (guanine-N1-)-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT10A	https://www.uniprot.org/uniprot/Q8TBZ6	https://hpo.jax.org/app/browse/search?q=TRMT10A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616013	http://www.informatics.jax.org/searchtool/Search.do?query=TRMT10A&submit=Quick%0D%8722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT10A	rs11935423	0.210064	0	0	1	0	0	intronic	intronic	intronic	TRMT10A	TRMT10A	ENSG00000145331	Na	Na	Na	Na	Na	Na	Het;C>T	451;12|17	Hom;C>T	545;0|17
N	N	-	4	100478624	100478624	C	T	snp	intronic	 	 	 	 	TRMT10A	Trmt10a	ENSG00000145331	tRNA methyltransferase 10A	chr4:100467866-100485189	This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]	MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 1	Mice homozygous for a knock-out allele exhibit increased circulating magnesium level.	tRNA modification in the nucleus and cytosol	GO:0030488;tRNA methylation;IDA|GO:0032259;methylation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000049;tRNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0008168;methyltransferase activity;IEA|GO:0009019;tRNA (guanine-N1-)-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT10A	https://www.uniprot.org/uniprot/Q8TBZ6	https://hpo.jax.org/app/browse/search?q=TRMT10A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616013	http://www.informatics.jax.org/searchtool/Search.do?query=TRMT10A&submit=Quick%0D%8722ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT10A	rs3817083	0.210264	0.1913	0.1878	1	0	0	intronic	intronic	intronic	TRMT10A	TRMT10A	ENSG00000145331	Na	Na	Na	Na	Na	Na	Het;C>T	147;17|9	Hom;C>T	611;0|23
N	N	-	4	100485255	100485255	G	A	snp	nonsynonymous SNV	G3A	M1I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	MTTP	Mttp	ENSG00000138823	microsomal triglyceride transfer protein	chr4:100484918-100545156	MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]	lipids; hyperinsulinemia; obesity, visceral; Fatty Liver|Hepatitis C, Chronic|Liver Cirrhosis; alcohol; Hypercholesterolemia|LDLC levels; Insulin Resistance|Metabolic Syndrome X; Glomerulonephritis, IGA; Fatty Liver|Insulin Resistance; null; Metabolic Diseases; Cardiovascular Diseases|; Fatty Liver|Hepatitis C, Chronic; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; lipid metabolism disorders; Hepatitis B|Hepatitis B, Chronic; Cardiovascular Diseases; cholesterol; triglycerides; cholesterol, LDL; plasma cholesterol levels and body mass index; cholesterol; cholesterol, LDL; insulin; apoB; lipoprotein profiles; bone density; Peripheral Vascular Diseases; atherosclerosis, coronary; lipoprotein; lipids; liver steatosis; triglycerides; cholesterol, LDL; lipoproteins; diabetes, type 2; vitamin E and carotenoids; Atherosclerosis|Cardiovascular Diseases; heart disease; longevity; Type 2 Diabetes| edema | rosiglitazone; body mass; cholesterol, LDL; cholesterol, total; insulin; apoB; lipoproteins; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lipoproteins; obesity; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; Chronic renal failure|Kidney Failure, Chronic; steatohepatitis, non-alcoholic; blood pressure, arterial; Cholesterol, HDL; ApoB-48; blood pressure, arterial diabetes, type 2 glucose insulin; Mental Competency; BMI- Edema rosiglitazone or pioglitazone; Perphenazine; cholesterol, HDL cholesterol, LDL insulin lipoprotein liver disease, nonalcoholic fatty; cholesterol; apoA-IV; apoE; triacylglycerols; Hyperlipidemias|Hypertension	Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles.	Chylomicron assembly	GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007623;circadian rhythm;IEA|GO:0015914;phospholipid transport;IDA|GO:0034197;triglyceride transport;IDA|GO:0034377;plasma lipoprotein particle assembly;IDA|GO:0034378;chylomicron assembly;TAS|GO:0034379;very-low-density lipoprotein particle assembly;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IEA|GO:0042953;lipoprotein transport;IEA|GO:0051592;response to calcium ion;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0031982;vesicle;IEA|GO:0043235;receptor complex;IDA	GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005548;phospholipid transporter activity;IDA|GO:0008289;lipid binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTTP	https://www.uniprot.org/uniprot/P55157	https://hpo.jax.org/app/browse/search?q=MTTP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=157147	http://www.informatics.jax.org/searchtool/Search.do?query=MTTP&submit=Quick%0D%7814ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTTP	rs11944752	0.25	0	0.3319	0.18	2	11	exonic	exonic	exonic	MTTP	MTTP	ENSG00000138823	nonsynonymous SNV	nonsynonymous SNV	unknown	MTTP:NM_001300785:exon1:c.G3A:p.M1I,	MTTP:uc011cej.2:exon1:c.G3A:p.M1I,	UNKNOWN	Het;G>A	760;28|36	Hom;G>A	1997;0|75
N	N	-	4	100495817	100495817	T	C	snp	intronic	 	 	 	 	MTTP	Mttp	ENSG00000138823	microsomal triglyceride transfer protein	chr4:100484918-100545156	MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]	lipids; hyperinsulinemia; obesity, visceral; Fatty Liver|Hepatitis C, Chronic|Liver Cirrhosis; alcohol; Hypercholesterolemia|LDLC levels; Insulin Resistance|Metabolic Syndrome X; Glomerulonephritis, IGA; Fatty Liver|Insulin Resistance; null; Metabolic Diseases; Cardiovascular Diseases|; Fatty Liver|Hepatitis C, Chronic; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; lipid metabolism disorders; Hepatitis B|Hepatitis B, Chronic; Cardiovascular Diseases; cholesterol; triglycerides; cholesterol, LDL; plasma cholesterol levels and body mass index; cholesterol; cholesterol, LDL; insulin; apoB; lipoprotein profiles; bone density; Peripheral Vascular Diseases; atherosclerosis, coronary; lipoprotein; lipids; liver steatosis; triglycerides; cholesterol, LDL; lipoproteins; diabetes, type 2; vitamin E and carotenoids; Atherosclerosis|Cardiovascular Diseases; heart disease; longevity; Type 2 Diabetes| edema | rosiglitazone; body mass; cholesterol, LDL; cholesterol, total; insulin; apoB; lipoproteins; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lipoproteins; obesity; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; Chronic renal failure|Kidney Failure, Chronic; steatohepatitis, non-alcoholic; blood pressure, arterial; Cholesterol, HDL; ApoB-48; blood pressure, arterial diabetes, type 2 glucose insulin; Mental Competency; BMI- Edema rosiglitazone or pioglitazone; Perphenazine; cholesterol, HDL cholesterol, LDL insulin lipoprotein liver disease, nonalcoholic fatty; cholesterol; apoA-IV; apoE; triacylglycerols; Hyperlipidemias|Hypertension	Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles.	Chylomicron assembly	GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007623;circadian rhythm;IEA|GO:0015914;phospholipid transport;IDA|GO:0034197;triglyceride transport;IDA|GO:0034377;plasma lipoprotein particle assembly;IDA|GO:0034378;chylomicron assembly;TAS|GO:0034379;very-low-density lipoprotein particle assembly;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IEA|GO:0042953;lipoprotein transport;IEA|GO:0051592;response to calcium ion;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0031982;vesicle;IEA|GO:0043235;receptor complex;IDA	GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005548;phospholipid transporter activity;IDA|GO:0008289;lipid binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTTP	https://www.uniprot.org/uniprot/P55157	https://hpo.jax.org/app/browse/search?q=MTTP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=157147	http://www.informatics.jax.org/searchtool/Search.do?query=MTTP&submit=Quick%0D%7814ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTTP	rs1800804	0.2498	0	0	1	0	0	intronic	intronic	intronic	MTTP	MTTP	ENSG00000138823	Na	Na	Na	Na	Na	Na	Het;T>C	69;2|3	Hom;T>C	171;0|5
N	N	-	4	100504664	100504664	T	C	snp	nonsynonymous SNV	T464C	I155T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MTTP	Mttp	ENSG00000138823	microsomal triglyceride transfer protein	chr4:100484918-100545156	MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]	lipids; hyperinsulinemia; obesity, visceral; Fatty Liver|Hepatitis C, Chronic|Liver Cirrhosis; alcohol; Hypercholesterolemia|LDLC levels; Insulin Resistance|Metabolic Syndrome X; Glomerulonephritis, IGA; Fatty Liver|Insulin Resistance; null; Metabolic Diseases; Cardiovascular Diseases|; Fatty Liver|Hepatitis C, Chronic; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; lipid metabolism disorders; Hepatitis B|Hepatitis B, Chronic; Cardiovascular Diseases; cholesterol; triglycerides; cholesterol, LDL; plasma cholesterol levels and body mass index; cholesterol; cholesterol, LDL; insulin; apoB; lipoprotein profiles; bone density; Peripheral Vascular Diseases; atherosclerosis, coronary; lipoprotein; lipids; liver steatosis; triglycerides; cholesterol, LDL; lipoproteins; diabetes, type 2; vitamin E and carotenoids; Atherosclerosis|Cardiovascular Diseases; heart disease; longevity; Type 2 Diabetes| edema | rosiglitazone; body mass; cholesterol, LDL; cholesterol, total; insulin; apoB; lipoproteins; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lipoproteins; obesity; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; Chronic renal failure|Kidney Failure, Chronic; steatohepatitis, non-alcoholic; blood pressure, arterial; Cholesterol, HDL; ApoB-48; blood pressure, arterial diabetes, type 2 glucose insulin; Mental Competency; BMI- Edema rosiglitazone or pioglitazone; Perphenazine; cholesterol, HDL cholesterol, LDL insulin lipoprotein liver disease, nonalcoholic fatty; cholesterol; apoA-IV; apoE; triacylglycerols; Hyperlipidemias|Hypertension	Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles.	Chylomicron assembly	GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007623;circadian rhythm;IEA|GO:0015914;phospholipid transport;IDA|GO:0034197;triglyceride transport;IDA|GO:0034377;plasma lipoprotein particle assembly;IDA|GO:0034378;chylomicron assembly;TAS|GO:0034379;very-low-density lipoprotein particle assembly;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IEA|GO:0042953;lipoprotein transport;IEA|GO:0051592;response to calcium ion;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0031982;vesicle;IEA|GO:0043235;receptor complex;IDA	GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005548;phospholipid transporter activity;IDA|GO:0008289;lipid binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTTP	https://www.uniprot.org/uniprot/P55157	https://hpo.jax.org/app/browse/search?q=MTTP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=157147	http://www.informatics.jax.org/searchtool/Search.do?query=MTTP&submit=Quick%0D%7814ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTTP	rs3816873	0.2498	0.2627	0.2504	0.23	3	13	exonic	exonic	exonic	MTTP	MTTP	ENSG00000138823	nonsynonymous SNV	nonsynonymous SNV	unknown	MTTP:NM_001300785:exon3:c.T464C:p.I155T,MTTP:NM_000253:exon4:c.T383C:p.I128T,	MTTP:uc003hvb.3:exon3:c.T383C:p.I128T,MTTP:uc011cej.2:exon3:c.T464C:p.I155T,MTTP:uc003hvc.4:exon4:c.T383C:p.I128T,	UNKNOWN	Het;T>C	354;42|22	Hom;T>C	1683;0|61
N	N	-	4	10105739	10105739	C	T	snp	intronic	 	 	 	 	WDR1	Wdr1	ENSG00000071127	WD repeat domain 1	chr4:10075963-10118573	This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	serum uric acid; Triglycerides; Exercise Test; serum urate; Uric Acid	Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function.	Platelet degranulation 	GO:0002446;neutrophil mediated immunity;IEA|GO:0002576;platelet degranulation;TAS|GO:0007605;sensory perception of sound;TAS|GO:0008360;regulation of cell shape;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030043;actin filament fragmentation;IEA|GO:0030220;platelet formation;IEA|GO:0030834;regulation of actin filament depolymerization;IDA|GO:0030836;positive regulation of actin filament depolymerization;IEA|GO:0030865;cortical cytoskeleton organization;IEA|GO:0040011;locomotion;IBA|GO:0042247;establishment of planar polarity of follicular epithelium;IEA|GO:0043297;apical junction assembly;IDA|GO:0045199;maintenance of epithelial cell apical/basal polarity;IDA|GO:0045214;sarcomere organization;IEA|GO:0048713;regulation of oligodendrocyte differentiation;IEA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IEA|GO:1990266;neutrophil migration;IEA	GO:0002102;podosome;IEA|GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005911;cell-cell junction;IDA|GO:0030054;cell junction;IEA|GO:0030864;cortical actin cytoskeleton;IBA|GO:0042643;actomyosin, actin portion;IBA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WDR1	https://www.uniprot.org/uniprot/O75083		https://www.ncbi.nlm.nih.gov/omim/?term=604734	http://www.informatics.jax.org/searchtool/Search.do?query=WDR1&submit=Quick%0D%1389ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR1	rs3756224	0.379992	0	0	1	0	0	intronic	intronic	intronic	WDR1	WDR1	ENSG00000071127	Na	Na	Na	Na	Na	Na	Het;C>T	160;4|6	Hom;C>T	258;0|8
N	N	-	4	101338217	101338217	T	C	snp	intronic	 	 	 	 	EMCN	Emcn	ENSG00000164035	endomucin	chr4:101316498-101801283	EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]	Body Height; Tobacco Use Disorder; Celiac Disease|; Piperazines; Insulin	 		GO:0001525;angiogenesis;IEP|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030155;regulation of cell adhesion;IMP	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EMCN			https://www.ncbi.nlm.nih.gov/omim/?term=608350	http://www.informatics.jax.org/searchtool/Search.do?query=EMCN&submit=Quick%0D%11165ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EMCN	rs3733437	0.330272	0.5074	0	1	0	0	intronic	intronic	intronic	EMCN	EMCN	ENSG00000164035	Na	Na	Na	Na	Na	Na	Het;T>C	1568;63|65	Hom;T>C	3546;1|120
N	N	-	4	101696012	101696012	T	G	snp	intergenic	 	 	 	 	NONE																		rs10026604	0.760583	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01216(dist=99742),PPP3CA(dist=248575)	EMCN-IT3(dist=99742),PPP3CA(dist=248575)	NONE(dist=NONE),ENSG00000251219(dist=3727)	Na	Na	Na	Na	Na	Na	Het;T>G	563;37|26	Hom;T>G	1186;0|41
N	N	-	4	102161828	102161828	T	G	snp	intronic	 	 	 	 	PPP3CA	Ppp3ca	ENSG00000138814	protein phosphatase 3 catalytic subunit alpha	chr4:101944566-102269435		Parkinson's disease ; Type 2 Diabetes| edema | rosiglitazone; Keratoconus; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers.	CLEC7A (Dectin-1) induces NFAT activation	GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001975;response to amphetamine;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006606;protein import into nucleus;IEA|GO:0006816;calcium ion transport;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014883;transition between fast and slow fiber;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016311;dephosphorylation;TAS|GO:0019722;calcium-mediated signaling;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0033555;multicellular organismal response to stress;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0035690;cellular response to drug;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042110;T cell activation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0048741;skeletal muscle fiber development;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051533;positive regulation of NFAT protein import into nucleus;IDA|GO:0051592;response to calcium ion;IDA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:1903244;positive regulation of cardiac muscle hypertrophy in response to stress;IEA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IEA|GO:1905205;positive regulation of connective tissue replacement;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005955;calcineurin complex;NAS|GO:0016020;membrane;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0098794;postsynapse;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004723;calcium-dependent protein serine/threonine phosphatase activity;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0008144;drug binding;IDA|GO:0016018;cyclosporin A binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP3CA	https://www.uniprot.org/uniprot/Q08209	https://hpo.jax.org/app/browse/search?q=PPP3CA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114105	http://www.informatics.jax.org/searchtool/Search.do?query=PPP3CA&submit=Quick%0D%7812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP3CA	rs3789748	0.540535	0	0	1	0	0	intronic	intronic	intronic	PPP3CA	PPP3CA	ENSG00000138814	Na	Na	Na	Na	Na	Na	Het;T>G	70;6|3	Hom;T>G	229;0|6
N	N	-	4	102162086	102162086	T	C	snp	intronic	 	 	 	 	PPP3CA	Ppp3ca	ENSG00000138814	protein phosphatase 3 catalytic subunit alpha	chr4:101944566-102269435		Parkinson's disease ; Type 2 Diabetes| edema | rosiglitazone; Keratoconus; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers.	CLEC7A (Dectin-1) induces NFAT activation	GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001975;response to amphetamine;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006606;protein import into nucleus;IEA|GO:0006816;calcium ion transport;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014883;transition between fast and slow fiber;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016311;dephosphorylation;TAS|GO:0019722;calcium-mediated signaling;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0033555;multicellular organismal response to stress;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0035690;cellular response to drug;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042110;T cell activation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0048741;skeletal muscle fiber development;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051533;positive regulation of NFAT protein import into nucleus;IDA|GO:0051592;response to calcium ion;IDA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:1903244;positive regulation of cardiac muscle hypertrophy in response to stress;IEA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IEA|GO:1905205;positive regulation of connective tissue replacement;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005955;calcineurin complex;NAS|GO:0016020;membrane;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0098794;postsynapse;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004723;calcium-dependent protein serine/threonine phosphatase activity;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0008144;drug binding;IDA|GO:0016018;cyclosporin A binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP3CA	https://www.uniprot.org/uniprot/Q08209	https://hpo.jax.org/app/browse/search?q=PPP3CA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114105	http://www.informatics.jax.org/searchtool/Search.do?query=PPP3CA&submit=Quick%0D%7812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP3CA	rs11944013	0.540535	0	0	1	0	0	intronic	intronic	intronic	PPP3CA	PPP3CA	ENSG00000138814	Na	Na	Na	Na	Na	Na	Het;T>C	322;21|18	Hom;T>C	788;0|28
N	N	-	4	102162182	102162182	A	G	snp	intronic	 	 	 	 	PPP3CA	Ppp3ca	ENSG00000138814	protein phosphatase 3 catalytic subunit alpha	chr4:101944566-102269435		Parkinson's disease ; Type 2 Diabetes| edema | rosiglitazone; Keratoconus; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers.	CLEC7A (Dectin-1) induces NFAT activation	GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001975;response to amphetamine;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006606;protein import into nucleus;IEA|GO:0006816;calcium ion transport;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014883;transition between fast and slow fiber;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016311;dephosphorylation;TAS|GO:0019722;calcium-mediated signaling;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0033555;multicellular organismal response to stress;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0035690;cellular response to drug;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042110;T cell activation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0048741;skeletal muscle fiber development;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051533;positive regulation of NFAT protein import into nucleus;IDA|GO:0051592;response to calcium ion;IDA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:1903244;positive regulation of cardiac muscle hypertrophy in response to stress;IEA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IEA|GO:1905205;positive regulation of connective tissue replacement;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005955;calcineurin complex;NAS|GO:0016020;membrane;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0098794;postsynapse;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004723;calcium-dependent protein serine/threonine phosphatase activity;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0008144;drug binding;IDA|GO:0016018;cyclosporin A binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP3CA	https://www.uniprot.org/uniprot/Q08209	https://hpo.jax.org/app/browse/search?q=PPP3CA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114105	http://www.informatics.jax.org/searchtool/Search.do?query=PPP3CA&submit=Quick%0D%7812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP3CA	rs13103487	0.408946	0	0	1	0	0	intronic	intronic	intronic	PPP3CA	PPP3CA	ENSG00000138814	Na	Na	Na	Na	Na	Na	Het;A>G	70;4|3	Hom;A>G	169;0|5
N	N	-	4	103553447	103553448	GA	G	indel	intronic	 	 	 	 	MANBA	Manba	ENSG00000109323	mannosidase beta	chr4:103552660-103682151	This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]	Diabetes Mellitus; longevity; benzene haematotoxicity; Alcoholism; Multiple Sclerosis; colorectal cancer; Body Mass Index	Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs.	Lysosomal oligosaccharide catabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006464;cellular protein modification process;NAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005764;lysosome;IEA|GO:0005886;plasma membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004567;beta-mannosidase activity;TAS|GO:0005537;mannose binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MANBA	https://www.uniprot.org/uniprot/O00462	https://hpo.jax.org/app/browse/search?q=MANBA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609489	http://www.informatics.jax.org/searchtool/Search.do?query=MANBA&submit=Quick%0D%3841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MANBA	rs573210702	0.553914	0	0.5997	1	0	0	intronic	intronic	intronic	MANBA	MANBA	ENSG00000109323	Na	Na	Na	Na	Na	Na	Het;-A	604;5|31	Hom;-A	924;1|41
N	N	-	4	103826635	103826635	T	C	snp	intronic	 	 	 	 	SLC9B1	Slc9b1	ENSG00000164037	solute carrier family 9 member B1	chr4:103806205-103940896	The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]	Diabetes Mellitus	 	Stimuli-sensing channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007338;single fertilization;IEA|GO:0030317;flagellated sperm motility;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;ISS|GO:0055085;transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0005739;mitochondrion;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0097228;sperm principal piece;ISS	GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0015385;sodium:proton antiporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC9B1			https://www.ncbi.nlm.nih.gov/omim/?term=611527	http://www.informatics.jax.org/searchtool/Search.do?query=SLC9B1&submit=Quick%0D%11166ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9B1	rs4699034	0.598442	0	0.5225	1	0	0	intronic	intronic	intronic	SLC9B1	SLC9B1	ENSG00000164037	Na	Na	Na	Na	Na	Na	Het;T>C	872;3|30	Hom;T>C	703;2|30
N	N	-	4	104061845	104061848	CTTA	C	indel	intronic	 	 	 	 	CENPE	Cenpe	ENSG00000138778	centromere protein E	chr4:104026963-104119566	Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]	Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer	Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment.	Kinesins	GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP	GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CENPE	https://www.uniprot.org/uniprot/Q02224	https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=117143	http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE	rs3052340	0.413938	0	0	1	0	0	intronic	intronic	intronic	CENPE	CENPE	ENSG00000138778	Na	Na	Na	Na	Na	Na	Het;-TTA	83;2|3	Hom;-TTA	233;0|6
N	N	-	4	105617864	105617864	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101929468																		rs2651342	0.21226	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929468	AK094561(dist=20519),TET2(dist=449168)	ENSG00000245384	Na	Na	Na	Na	Na	Na	Het;C>T	495;25|23	Hom;C>T	1586;0|57
N	N	-	4	105618312	105618312	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101929468																		rs13104471	0.198682	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929468	AK094561(dist=20967),TET2(dist=448720)	ENSG00000245384	Na	Na	Na	Na	Na	Na	Het;G>C	512;31|25	Hom;G>C	2044;2|76
N	N	-	4	106196092	106196092	C	T	snp	ncRNA_intronic	 	 	 	 	TET2-AS1																		rs2647243	0.830471	0	0	1	0	0	ncRNA_intronic	intronic	intronic	TET2-AS1	TET2	ENSG00000168769	Na	Na	Na	Na	Na	Na	Het;C>T	33;2|2	Hom;C>T	367;0|11
N	N	-	4	108456690	108456690	G	A	snp	intergenic	 	 	 	 	RNU6-551P																		rs2138030	0.229233	0	0	1	0	0	intergenic	intergenic	intergenic	DKK2(dist=499237),PAPSS1(dist=78132)	NONE(dist=NONE),PAPSS1(dist=78132)	ENSG00000252470(dist=100313),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	730;17|34	Hom;G>A	1928;0|71
N	N	-	4	1087901	1087901	A	G	snp	intronic	 	 	 	 	RNF212	Rnf212	ENSG00000178222	ring finger protein 212	chr4:1050038-1107350	This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]	null; recombination rate (females); recombination rate (males); Recombination, Genetic	Mice homozygous for a knock-out allele exhibit abnormal male meiosis.		GO:0006311;meiotic gene conversion;ISS|GO:0007129;synapsis;IBA|GO:0007131;reciprocal meiotic recombination;ISS|GO:0016925;protein sumoylation;IEA|GO:0051026;chiasma assembly;ISS|GO:0051321;meiotic cell cycle;IEA	GO:0000795;synaptonemal complex;IBA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA	GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0019789;SUMO transferase activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF212			https://www.ncbi.nlm.nih.gov/omim/?term=612041	http://www.informatics.jax.org/searchtool/Search.do?query=RNF212&submit=Quick%0D%14155ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF212	rs13106356	0.322684	0	0	1	0	0	intronic	intronic	intronic	RNF212	RNF212	ENSG00000178222	Na	Na	Na	Na	Na	Na	Het;A>G	65;2|3	Hom;A>G	689;0|23
N	N	-	4	109477396	109477396	T	C	snp	ncRNA_exonic	 	 	 	 	RPL34-AS1																		rs7663505	0.576078	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	RPL34-AS1	RPL34-AS1	ENSG00000234492	Na	Na	Na	Na	Na	Na	Het;T>C	148;3|5	Hom;T>C	296;0|8
N	N	-	4	109477456	109477456	G	A	snp	ncRNA_exonic	 	 	 	 	RPL34-AS1																		rs7685807	0.583666	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	RPL34-AS1	RPL34-AS1	ENSG00000234492	Na	Na	Na	Na	Na	Na	Het;G>A	243;15|10	Hom;G>A	1176;0|34
N	N	-	4	109477779	109477779	G	T	snp	ncRNA_exonic	 	 	 	 	RPL34-AS1																		rs7686569	0.583267	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	RPL34-AS1	RPL34-AS1	ENSG00000234492	Na	Na	Na	Na	Na	Na	Het;G>T	1888;87|88	Hom;G>T	4905;0|185
N	N	-	4	109478108	109478108	C	G	snp	nonsynonymous SNV	G262C	E88Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	RPL34-AS1																		rs11731416	0.582268	0	0.5532	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	RPL34-AS1	RPL34-AS1	ENSG00000234492	Na	nonsynonymous SNV	Na	Na	RPL34-AS1:uc011cfl.1:exon2:c.G262C:p.E88Q,	Na	Het;C>G	1116;47|50	Hom;C>G	2780;1|100
N	N	-	4	109480949	109480949	G	T	snp	ncRNA_intronic	 	 	 	 	RPL34-AS1																		rs58997104	0.585064	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	RPL34-AS1	RPL34-AS1	ENSG00000234492	Na	Na	Na	Na	Na	Na	Het;G>T	59;6|3	Hom;G>T	240;0|7
N	N	-	4	109481318	109481318	A	C	snp	ncRNA_intronic	 	 	 	 	RPL34-AS1																		rs7664892	0.584465	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	RPL34-AS1	RPL34-AS1	ENSG00000234492	Na	Na	Na	Na	Na	Na	Het;A>C	1534;60|70	Hom;A>C	2701;1|93
N	N	-	4	110446454	110446454	A	G	snp	intronic	 	 	 	 	SEC24B	Sec24b	ENSG00000138802	SEC24 homolog B, COPII coat complex component	chr4:110354928-110462052	The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Alcoholism	Mice homozygous for an ENU induced mutation exhibit craniorachischisis, abnormal embryo shape, omphalocele, disoriented hair cells, and failure of eyelid fusion.	Antigen Presentation: Folding, assembly and peptide loading of class I MHC	GO:0001843;neural tube closure;IEA|GO:0002093;auditory receptor cell morphogenesis;IEA|GO:0002474;antigen processing and presentation of peptide antigen via MHC class I;TAS|GO:0003151;outflow tract morphogenesis;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021747;cochlear nucleus development;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060425;lung morphogenesis;IEA|GO:0060463;lung lobe morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061156;pulmonary artery morphogenesis;IEA|GO:0072358;cardiovascular system development;IEA|GO:0090178;regulation of establishment of planar polarity involved in neural tube closure;IEA|GO:1901301;regulation of cargo loading into COPII-coated vesicle;IEA	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;TAS|GO:0030127;COPII vesicle coat;IEA|GO:0030134;ER to Golgi transport vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC24B	https://www.uniprot.org/uniprot/O95487		https://www.ncbi.nlm.nih.gov/omim/?term=607184	http://www.informatics.jax.org/searchtool/Search.do?query=SEC24B&submit=Quick%0D%7810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC24B	rs6812906	0.717452	0.6798	0.6287	1	0	0	intronic	intronic	intronic	SEC24B	SEC24B	ENSG00000138802	Na	Na	Na	Na	Na	Na	Het;A>G	105;19|6	Hom;A>G	1214;0|38
N	N	-	4	110580084	110580084	G	T	snp	intronic	 	 	 	 	CCDC109B	Ccdc109b																	rs1543812	0.765375	0	0	1	0	0	intronic	intronic	intronic	CCDC109B	CCDC109B	ENSG00000005059	Na	Na	Na	Na	Na	Na	Het;G>T	102;4|5	Hom;G>T	127;0|5
N	N	-	4	110581324	110581324	A	AT	indel	intronic	 	 	 	 	CCDC109B	Ccdc109b																	rs34754720	0.294529	0.2599	0.3451	1	0	0	intronic	intronic	intronic	CCDC109B	CCDC109B	ENSG00000005059	Na	Na	Na	Na	Na	Na	Het;+T	235;26|14	Hom;+T	1057;0|41
N	N	-	4	110581363	110581363	T	A	snp	nonsynonymous SNV	T188A	I63N	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CCDC109B	Ccdc109b																	rs4698744	0.294928	0.2589	0.4083	0.08	1	13	exonic	exonic	exonic	CCDC109B	CCDC109B	ENSG00000005059	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC109B:NM_017918:exon3:c.T188A:p.I63N,	CCDC109B:uc011cfs.2:exon3:c.T188A:p.I63N,CCDC109B:uc010imf.2:exon3:c.T188A:p.I63N,	UNKNOWN	Het;T>A	962;40|44	Hom;T>A	1905;0|68
N	N	-	4	110590479	110590479	G	T	snp	intronic	 	 	 	 	CCDC109B	Ccdc109b																	rs4698775	0.784545	0	0	1	0	0	intronic	intronic	intronic	CCDC109B	CCDC109B	ENSG00000005059	Na	Na	Na	Na	Na	Na	Het;G>T	551;36|29	Hom;G>T	1003;0|37
N	N	-	4	110590557	110590557	C	T	snp	intronic	 	 	 	 	CCDC109B	Ccdc109b																	rs59207576	0.28754	0	0	1	0	0	intronic	intronic	intronic	CCDC109B	CCDC109B	ENSG00000005059	Na	Na	Na	Na	Na	Na	Het;C>T	361;16|19	Hom;C>T	952;0|35
N	N	-	4	110677543	110677546	GGAA	G	indel	intronic	 	 	 	 	CFI	Cfi	ENSG00000205403	complement factor I	chr4:110661852-110723335	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]	hemolytic uremic syndrome; null; Choroidal Neovascularization|Geographic Atrophy; Alcoholism; Macular Degeneration; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Tobacco Use Disorder; atypical hemolytic uremic syndrome	Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritistype II. Plasma C3 circulates as C3b.	Regulation of Complement cascade	GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CFI		https://hpo.jax.org/app/browse/search?q=CFI&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=217030	http://www.informatics.jax.org/searchtool/Search.do?query=CFI&submit=Quick%0D%17509ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFI	rs142505090	0.566893	0	0	1	0	0	intronic	intronic	intronic	CFI	CFI	ENSG00000205403	Na	Na	Na	Na	Na	Na	Het;-GAA	71;6|3	Hom;-GAA	618;0|15
N	N	-	4	1107478	1107478	T	C	snp	ncRNA_exonic	 	 	 	 	AC092535.3																		rs62296477	0.588658	0	0	1	0	0	upstream	upstream	ncRNA_exonic	RNF212	RNF212	ENSG00000251652	Na	Na	Na	Na	Na	Na	Het;T>C	784;83|45	Hom;T>C	2888;0|109
N	N	-	4	111398208	111398208	A	G	snp	nonsynonymous SNV	A638G	Q213R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ENPEP	Enpep	ENSG00000138792	glutamyl aminopeptidase	chr4:111286889-111486441		Glomerulosclerosis, Focal Segmental; Alcoholism; Albumins; Cholesterol; Atrial fibrillation/atrial flutter; Tobacco Use Disorder	Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development.	Metabolism of Angiotensinogen to Angiotensins	GO:0001525;angiogenesis;IEA|GO:0002003;angiotensin maturation;TAS|GO:0002005;angiotensin catabolic process in blood;NAS|GO:0003081;regulation of systemic arterial blood pressure by renin-angiotensin;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;NAS|GO:0008283;cell proliferation;NAS|GO:0016477;cell migration;IDA|GO:0032835;glomerulus development;IEA|GO:0043171;peptide catabolic process;IBA	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005903;brush border;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;EXP|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ENPEP	https://www.uniprot.org/uniprot/Q07075		https://www.ncbi.nlm.nih.gov/omim/?term=138297	http://www.informatics.jax.org/searchtool/Search.do?query=ENPEP&submit=Quick%0D%7804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPEP	rs10004516	0.847644	0.8780	0.8650	0.08	1	13	exonic	exonic	exonic	ENPEP	ENPEP	ENSG00000138792	nonsynonymous SNV	nonsynonymous SNV	unknown	ENPEP:NM_001977:exon1:c.A638G:p.Q213R,	ENPEP:uc003iab.4:exon1:c.A638G:p.Q213R,	UNKNOWN	Het;A>G	976;47|43	Hom;A>G	2354;0|82
N	N	-	4	111510631	111510631	G	C	snp	intergenic	 	 	 	 	ENPEP	Enpep	ENSG00000138792	glutamyl aminopeptidase	chr4:111286889-111486441		Glomerulosclerosis, Focal Segmental; Alcoholism; Albumins; Cholesterol; Atrial fibrillation/atrial flutter; Tobacco Use Disorder	Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development.	Metabolism of Angiotensinogen to Angiotensins	GO:0001525;angiogenesis;IEA|GO:0002003;angiotensin maturation;TAS|GO:0002005;angiotensin catabolic process in blood;NAS|GO:0003081;regulation of systemic arterial blood pressure by renin-angiotensin;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;NAS|GO:0008283;cell proliferation;NAS|GO:0016477;cell migration;IDA|GO:0032835;glomerulus development;IEA|GO:0043171;peptide catabolic process;IBA	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005903;brush border;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;EXP|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ENPEP	https://www.uniprot.org/uniprot/Q07075		https://www.ncbi.nlm.nih.gov/omim/?term=138297	http://www.informatics.jax.org/searchtool/Search.do?query=ENPEP&submit=Quick%0D%7804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPEP	rs1448811	0.219649	0	0	1	0	0	intergenic	intergenic	intergenic	ENPEP(dist=26138),PITX2(dist=27949)	ENPEP(dist=26138),PITX2(dist=27949)	ENSG00000138792(dist=24190),ENSG00000250103(dist=6040)	Na	Na	Na	Na	Na	Na	Het;G>C	80;6|5	Hom;G>C	779;0|24
N	N	-	4	111558411	111558411	G	C	snp	UTR5	-4257C>G	 	 	 	PITX2	Pitx2	ENSG00000164093	paired like homeodomain 2	chr4:111538579-111563279	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]	idiopathic atrial fibrillation; Atrial fibrillation/atrial flutter; atrial fibrillation; Atrial Fibrillation; Atrial Fibrillation|Recurrence; Peters' anomaly; Atrial fibrillation ; Alcoholism; glaucoma, early-onset; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Rieger syndrome; Eye Abnormalities; Atrial fibrillation; Parkinson Disease; Creatinine; Phosphorus; Alcohol Drinking; Cleft Lip|Cleft Palate; Stroke	Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death.	TFAP2 (AP-2) family regulates transcription of other transcription factors	GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001764;neuron migration;IEA|GO:0002074;extraocular skeletal muscle development;IEA|GO:0003171;atrioventricular valve development;IEA|GO:0003253;cardiac neural crest cell migration involved in outflow tract morphogenesis;IEA|GO:0003350;pulmonary myocardium development;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007520;myoblast fusion;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0009725;response to hormone;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021763;subthalamic nucleus development;IEA|GO:0021855;hypothalamus cell migration;IEA|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0033189;response to vitamin A;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035315;hair cell differentiation;IC|GO:0035886;vascular smooth muscle cell differentiation;IEA|GO:0035993;deltoid tuberosity development;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042476;odontogenesis;IMP|GO:0043010;camera-type eye development;IMP|GO:0043388;positive regulation of DNA binding;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048536;spleen development;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055009;atrial cardiac muscle tissue morphogenesis;IEA|GO:0055015;ventricular cardiac muscle cell development;IEA|GO:0055123;digestive system development;IEA|GO:0060126;somatotropin secreting cell differentiation;TAS|GO:0060127;prolactin secreting cell differentiation;TAS|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060460;left lung morphogenesis;IEA|GO:0060577;pulmonary vein morphogenesis;IEA|GO:0060578;superior vena cava morphogenesis;IEA|GO:0061031;endodermal digestive tract morphogenesis;IEA|GO:0061072;iris morphogenesis;IMP|GO:0061325;cell proliferation involved in outflow tract morphogenesis;IEA|GO:0070986;left/right axis specification;IEA|GO:2000288;positive regulation of myoblast proliferation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PITX2		https://hpo.jax.org/app/browse/search?q=PITX2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601542	http://www.informatics.jax.org/searchtool/Search.do?query=PITX2&submit=Quick%0D%11195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PITX2	rs2739200	0.576478	0	0	1	0	0	UTR5	UTR5	UTR5	PITX2(NM_153426:c.-4257C>G,NM_001204397:c.-4257C>G,NM_153427:c.-4257C>G)	PITX2(uc003iaf.3:c.-4257C>G,uc003iad.3:c.-4257C>G,uc003iae.3:c.-4257C>G)	ENSG00000164093(ENST00000355080:c.-4257C>G,ENST00000354925:c.-4257C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	162;19|10	Hom;G>C	354;0|15
N	N	-	4	111704080	111704080	G	A	snp	intergenic	 	 	 	 	PITX2	Pitx2	ENSG00000164093	paired like homeodomain 2	chr4:111538579-111563279	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]	idiopathic atrial fibrillation; Atrial fibrillation/atrial flutter; atrial fibrillation; Atrial Fibrillation; Atrial Fibrillation|Recurrence; Peters' anomaly; Atrial fibrillation ; Alcoholism; glaucoma, early-onset; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Rieger syndrome; Eye Abnormalities; Atrial fibrillation; Parkinson Disease; Creatinine; Phosphorus; Alcohol Drinking; Cleft Lip|Cleft Palate; Stroke	Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death.	TFAP2 (AP-2) family regulates transcription of other transcription factors	GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001764;neuron migration;IEA|GO:0002074;extraocular skeletal muscle development;IEA|GO:0003171;atrioventricular valve development;IEA|GO:0003253;cardiac neural crest cell migration involved in outflow tract morphogenesis;IEA|GO:0003350;pulmonary myocardium development;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007520;myoblast fusion;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0009725;response to hormone;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021763;subthalamic nucleus development;IEA|GO:0021855;hypothalamus cell migration;IEA|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0033189;response to vitamin A;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035315;hair cell differentiation;IC|GO:0035886;vascular smooth muscle cell differentiation;IEA|GO:0035993;deltoid tuberosity development;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042476;odontogenesis;IMP|GO:0043010;camera-type eye development;IMP|GO:0043388;positive regulation of DNA binding;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048536;spleen development;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055009;atrial cardiac muscle tissue morphogenesis;IEA|GO:0055015;ventricular cardiac muscle cell development;IEA|GO:0055123;digestive system development;IEA|GO:0060126;somatotropin secreting cell differentiation;TAS|GO:0060127;prolactin secreting cell differentiation;TAS|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060460;left lung morphogenesis;IEA|GO:0060577;pulmonary vein morphogenesis;IEA|GO:0060578;superior vena cava morphogenesis;IEA|GO:0061031;endodermal digestive tract morphogenesis;IEA|GO:0061072;iris morphogenesis;IMP|GO:0061325;cell proliferation involved in outflow tract morphogenesis;IEA|GO:0070986;left/right axis specification;IEA|GO:2000288;positive regulation of myoblast proliferation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PITX2		https://hpo.jax.org/app/browse/search?q=PITX2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601542	http://www.informatics.jax.org/searchtool/Search.do?query=PITX2&submit=Quick%0D%11195ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PITX2	rs2129983	0.549521	0	0	1	0	0	intergenic	intergenic	intergenic	PITX2(dist=140801),C4orf32(dist=1362473)	PITX2(dist=140801),C4orf32(dist=1362473)	ENSG00000164093(dist=140801),ENSG00000249519(dist=11479)	Na	Na	Na	Na	Na	Na	Het;G>A	272;11|13	Hom;G>A	778;0|29
N	N	-	4	112099209	112099209	C	G	snp	intergenic	 	 	 	 	AC004062.1																		rs7434318	0.281749	0	0	1	0	0	intergenic	intergenic	intergenic	PITX2(dist=535930),C4orf32(dist=967344)	PITX2(dist=535930),C4orf32(dist=967344)	ENSG00000251312(dist=113826),ENSG00000200963(dist=153359)	Na	Na	Na	Na	Na	Na	Het;C>G	148;7|9	Hom;C>G	195;0|9
N	N	-	4	113377952	113377952	A	G	snp	ncRNA_exonic	 	 	 	 	TOX4P1																		rs2074382	0.197484	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ALPK1(dist=14188),NEUROG2(dist=56720)	ALPK1(dist=14188),NEUROG2(dist=56720)	ENSG00000248697	Na	Na	Na	Na	Na	Na	Het;A>G	387;32|22	Hom;A>G	1859;0|60
N	N	-	4	113436044	113436044	T	G	snp	synonymous SNV	A588C	G196G	aliphatic,neutral	aliphatic,neutral	NEUROG2	Neurog2	ENSG00000178403	neurogenin 2	chr4:113434672-113437328	This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]	Parkinson's disease ; Alcoholism	Homozygous null mice die after birth and have neuronal differentiation defects, affecting retinal development, spinal cord interneuron development and behavior.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;ISS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NEUROG2			https://www.ncbi.nlm.nih.gov/omim/?term=606624	http://www.informatics.jax.org/searchtool/Search.do?query=NEUROG2&submit=Quick%0D%14182ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEUROG2	rs901474	0.957867	0.8995	0.9002	1	0	0	exonic	exonic	exonic	NEUROG2	NEUROG2	ENSG00000178403	synonymous SNV	synonymous SNV	unknown	NEUROG2:NM_024019:exon2:c.A588C:p.G196G,	NEUROG2:uc003ias.3:exon2:c.A588C:p.G196G,NEUROG2:uc021xqu.1:exon1:c.A588C:p.G196G,	UNKNOWN	Het;T>G	820;34|38	Hom;T>G	2155;0|70
N	N	-	4	113460927	113460927	C	A	snp	ncRNA_intronic	 	 	 	 	AC023886.1																		rs2306775	0.22524	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ZGRF1	C4orf21	ENSG00000249509	Na	Na	Na	Na	Na	Na	Het;C>A	793;33|38	Hom;C>A	1650;0|64
N	N	-	4	113533796	113533796	T	C	snp	intronic	 	 	 	 	ZGRF1	Zgrf1																	rs9993534	0.222045	0.1350	0.1772	1	0	0	intronic	intronic	intronic	ZGRF1	C4orf21	ENSG00000138658	Na	Na	Na	Na	Na	Na	Het;T>C	45;3|3	Hom;T>C	258;0|8
N	N	-	4	113578609	113578609	C	T	snp	UTR3	*126C>T	 	 	 	LARP7	Larp7	ENSG00000174720	La ribonucleoprotein domain family member 7	chr4:113558120-113578748	This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]	Forced Vital Capacity; Cholesterol, LDL; Alcoholism	Mice homozygous for a null mutation display complete perinatal lethality and a decrease in primordial germ cell number and proliferation.		GO:0006396;RNA processing;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LARP7		https://hpo.jax.org/app/browse/search?q=LARP7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612026	http://www.informatics.jax.org/searchtool/Search.do?query=LARP7&submit=Quick%0D%13565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LARP7	rs1129065	0.25639	0	0	1	0	0	UTR3	UTR3	UTR3	LARP7(NM_001267039:c.*126C>T,NM_016648:c.*126C>T,NM_015454:c.*126C>T)	LARP7(uc003iaz.4:c.*126C>T,uc003iay.4:c.*126C>T,uc003iba.4:c.*126C>T,uc003ibb.4:c.*126C>T)	ENSG00000174720(ENST00000344442:c.*126C>T,ENST00000509061:c.*126C>T,ENST00000509622:c.*1634C>T,ENST00000324052:c.*126C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1111;36|51	Hom;C>T	1894;0|69
N	N	-	4	11500459	11500459	T	TAG	indel	intergenic	 	 	 	 	AC025539.1																		rs748863930	0	0	0	1	0	0	intergenic	intergenic	intergenic	HS3ST1(dist=69922),LOC101929019(dist=724616)	HS3ST1(dist=69922),BC042433(dist=724647)	ENSG00000251152(dist=20639),ENSG00000249631(dist=126879)	Na	Na	Na	Na	Na	Na	Het;+AG	466;14|13	Hom;+AG	1587;0|38
N	N	-	4	115450050	115450050	C	G	snp	intergenic	 	 	 	 	AC093815.1																		rs1460779	0.522764	0	0	1	0	0	intergenic	intergenic	intergenic	ARSJ(dist=549172),UGT8(dist=69561)	ARSJ(dist=549172),UGT8(dist=69561)	ENSG00000248716(dist=424669),ENSG00000174607(dist=69561)	Na	Na	Na	Na	Na	Na	Het;C>G	133;29|9	Hom;C>G	855;0|33
N	N	-	4	115585029	115585029	C	G	snp	intronic	 	 	 	 	UGT8	Ugt8a	ENSG00000174607	UDP glycosyltransferase 8	chr4:115519611-115599380	The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]	Hearing Loss; drug-related genes ; Alcoholism; Chronic renal failure|Kidney Failure, Chronic; Body Mass Index	Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath.	Glycosphingolipid metabolism	GO:0002175;protein localization to paranode region of axon;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006682;galactosylceramide biosynthetic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007417;central nervous system development;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0008152;metabolic process;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0048812;neuron projection morphogenesis;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0008489;UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity;TAS|GO:0015020;glucuronosyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0047263;N-acylsphingosine galactosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/UGT8			https://www.ncbi.nlm.nih.gov/omim/?term=601291	http://www.informatics.jax.org/searchtool/Search.do?query=UGT8&submit=Quick%0D%13553ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT8	rs11731984	0.719249	0	0	1	0	0	intronic	intronic	intronic	UGT8	UGT8	ENSG00000174607	Na	Na	Na	Na	Na	Na	Het;C>G	104;2|5	Hom;C>G	185;0|6
N	N	-	4	11601660	11601660	C	T	snp	intergenic	 	 	 	 	AC025539.1																		rs78008043	0.0982428	0	0	1	0	0	intergenic	intergenic	intergenic	HS3ST1(dist=171123),LOC101929019(dist=623415)	HS3ST1(dist=171123),BC042433(dist=623446)	ENSG00000251152(dist=121840),ENSG00000249631(dist=25678)	Na	Na	Na	Na	Na	Na	Het;C>T	553;66|33	Hom;C>T	1715;0|69
N	N	-	4	11601776	11601776	A	G	snp	intergenic	 	 	 	 	AC025539.1																		rs75272362	0.103035	0	0	1	0	0	intergenic	intergenic	intergenic	HS3ST1(dist=171239),LOC101929019(dist=623299)	HS3ST1(dist=171239),BC042433(dist=623330)	ENSG00000251152(dist=121956),ENSG00000249631(dist=25562)	Na	Na	Na	Na	Na	Na	Het;A>G	48;15|4	Hom;A>G	413;0|14
N	N	-	4	1164277	1164277	C	G	snp	nonsynonymous SNV	G724C	V242L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SPON2	Spon2	ENSG00000159674	spondin 2	chr4:1160720-1202750		recombination rate (males); Tobacco Use Disorder; recombination rate (females)	Mice homozygous for disruptions in this gene have an essentially normal phenotype.  There is some alteration in succeptibility to bacterial infection however.	O-glycosylation of TSR domain-containing proteins	GO:0002376;immune system process;IEA|GO:0002448;mast cell mediated immunity;IEA|GO:0007155;cell adhesion;IEA|GO:0007411;axon guidance;TAS|GO:0008228;opsonization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043152;induction of bacterial agglutination;IEA|GO:0045087;innate immune response;IEA|GO:0050832;defense response to fungus;IEA|GO:0051607;defense response to virus;IEA|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;IEA|GO:0003823;antigen binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPON2			https://www.ncbi.nlm.nih.gov/omim/?term=605918	http://www.informatics.jax.org/searchtool/Search.do?query=SPON2&submit=Quick%0D%10361ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPON2	rs2279279	0.553315	0.5389	0.6396	0.38	5	13	exonic	exonic	exonic	SPON2	SPON2	ENSG00000159674	nonsynonymous SNV	nonsynonymous SNV	unknown	SPON2:NM_001128325:exon6:c.G724C:p.V242L,SPON2:NM_001199021:exon7:c.G724C:p.V242L,SPON2:NM_012445:exon5:c.G724C:p.V242L,	SPON2:uc003gco.4:exon5:c.G724C:p.V242L,SPON2:uc010ibr.3:exon6:c.G724C:p.V242L,SPON2:uc021xkj.1:exon7:c.G724C:p.V242L,	UNKNOWN	Het;C>G	368;14|15	Hom;C>G	858;0|31
N	N	-	4	1165130	1165130	G	T	snp	nonsynonymous SNV	C365A	A122E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	SPON2	Spon2	ENSG00000159674	spondin 2	chr4:1160720-1202750		recombination rate (males); Tobacco Use Disorder; recombination rate (females)	Mice homozygous for disruptions in this gene have an essentially normal phenotype.  There is some alteration in succeptibility to bacterial infection however.	O-glycosylation of TSR domain-containing proteins	GO:0002376;immune system process;IEA|GO:0002448;mast cell mediated immunity;IEA|GO:0007155;cell adhesion;IEA|GO:0007411;axon guidance;TAS|GO:0008228;opsonization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043152;induction of bacterial agglutination;IEA|GO:0045087;innate immune response;IEA|GO:0050832;defense response to fungus;IEA|GO:0051607;defense response to virus;IEA|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA	GO:0001530;lipopolysaccharide binding;IEA|GO:0003823;antigen binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPON2			https://www.ncbi.nlm.nih.gov/omim/?term=605918	http://www.informatics.jax.org/searchtool/Search.do?query=SPON2&submit=Quick%0D%10361ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPON2	rs11247975	0.554513	0.5609	0.6624	0.17	2	12	exonic	exonic	exonic	SPON2	SPON2	ENSG00000159674	nonsynonymous SNV	nonsynonymous SNV	unknown	SPON2:NM_001128325:exon4:c.C365A:p.A122E,SPON2:NM_001199021:exon5:c.C365A:p.A122E,SPON2:NM_012445:exon3:c.C365A:p.A122E,	SPON2:uc003gco.4:exon3:c.C365A:p.A122E,SPON2:uc010ibr.3:exon4:c.C365A:p.A122E,SPON2:uc003gcm.1:exon1:c.C119A:p.A40E,SPON2:uc021xkj.1:exon5:c.C365A:p.A122E,	UNKNOWN	Het;G>T	380;14|16	Hom;G>T	1071;0|38
N	N	-	4	117448139	117448139	A	G	snp	intergenic	 	 	 	 	AC106892.1																		rs1425644	0.327875	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1973(dist=227215),TRAM1L1(dist=556571)	MIR1973(dist=227215),TRAM1L1(dist=556571)	ENSG00000250791(dist=11837),ENSG00000213493(dist=71178)	Na	Na	Na	Na	Na	Na	Het;A>G	88;12|6	Hom;A>G	303;0|12
N	N	-	4	117498347	117498347	T	A	snp	intergenic	 	 	 	 	AC106892.1																		rs71606781	0.193291	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1973(dist=277423),TRAM1L1(dist=506363)	MIR1973(dist=277423),TRAM1L1(dist=506363)	ENSG00000250791(dist=62045),ENSG00000213493(dist=20970)	Na	Na	Na	Na	Na	Na	Het;T>A	154;4|8	Hom;T>A	277;0|10
N	N	-	4	11751748	11751748	A	T	snp	ncRNA_intronic	 	 	 	 	LINC02360																		rs13112666	0.672923	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	HS3ST1(dist=321211),LOC101929019(dist=473327)	HS3ST1(dist=321211),BC042433(dist=473358)	ENSG00000248300,ENSG00000249631	Na	Na	Na	Na	Na	Na	Het;A>T	233;20|11	Hom;A>T	895;0|34
N	N	-	4	117520667	117520667	C	G	snp	ncRNA_exonic	 	 	 	 	ACTN4P1																		rs4833515	0.692891	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR1973(dist=299743),TRAM1L1(dist=484043)	MIR1973(dist=299743),TRAM1L1(dist=484043)	ENSG00000213493	Na	Na	Na	Na	Na	Na	Het;C>G	716;32|33	Hom;C>G	1610;0|58
N	N	-	4	117598307	117598307	A	C	snp	intergenic	 	 	 	 	ACTN4P1																		rs12501318	0.253994	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1973(dist=377383),TRAM1L1(dist=406403)	MIR1973(dist=377383),TRAM1L1(dist=406403)	ENSG00000213493(dist=77540),ENSG00000201752(dist=162128)	Na	Na	Na	Na	Na	Na	Het;A>C	135;2|7	Hom;A>C	601;0|24
N	N	-	4	118349814	118349814	T	C	snp	ncRNA_intronic	 	 	 	 	LINC01378																		rs13123675	0.673722	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01378	TRAM1L1(dist=343078),NDST3(dist=604959)	ENSG00000236922	Na	Na	Na	Na	Na	Na	Het;T>C	528;16|21	Hom;T>C	1915;0|64
N	N	-	4	118499795	118499795	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01378																		rs2245255	0.557308	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01378	TRAM1L1(dist=493059),NDST3(dist=454978)	ENSG00000236922	Na	Na	Na	Na	Na	Na	Het;C>T	155;3|6	Hom;C>T	383;0|14
N	N	-	4	118499989	118499989	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01378																		rs2245313	0.557308	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01378	TRAM1L1(dist=493253),NDST3(dist=454784)	ENSG00000236922	Na	Na	Na	Na	Na	Na	Het;C>T	341;18|16	Hom;C>T	766;0|26
N	N	-	4	118500048	118500048	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01378																		rs2245321	0.557308	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01378	TRAM1L1(dist=493312),NDST3(dist=454725)	ENSG00000236922	Na	Na	Na	Na	Na	Na	Het;C>T	209;1|8	Hom;C>T	213;0|8
N	N	-	4	118710188	118710188	A	G	snp	intergenic	 	 	 	 	LINC01378																		rs7687404	0.583866	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01378(dist=99930),NDST3(dist=245312)	TRAM1L1(dist=703452),NDST3(dist=244585)	ENSG00000236922(dist=97845),ENSG00000229565(dist=45368)	Na	Na	Na	Na	Na	Na	Het;A>G	224;11|10	Hom;A>G	893;0|28
N	N	-	4	119689549	119689549	C	CTT	indel	intronic	 	 	 	 	SEC24D	Sec24d	ENSG00000150961	SEC24 homolog D, COPII coat complex component	chr4:119643978-119759838	The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Magnesium; Tobacco Use Disorder; Alcoholism	Mice homozygous for a knock-out allele exhibit early embryonic lethality. A hypomorphic gene trap allele results in lethality during organogenesis.	Antigen Presentation: Folding, assembly and peptide loading of class I MHC	GO:0001701;in utero embryonic development;IEA|GO:0002474;antigen processing and presentation of peptide antigen via MHC class I;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IEA|GO:0030127;COPII vesicle coat;NAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEC24D	https://www.uniprot.org/uniprot/O94855	https://hpo.jax.org/app/browse/search?q=SEC24D&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607186	http://www.informatics.jax.org/searchtool/Search.do?query=SEC24D&submit=Quick%0D%9361ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC24D	rs34595739	0	0	0	1	0	0	intronic	intronic	intronic	SEC24D	SEC24D	ENSG00000150961	Na	Na	Na	Na	Na	Na	Het;+TT	160;1|7	Hom;+TT	254;1|9
N	N	-	4	120265322	120265322	A	G	snp	ncRNA_exonic	 	 	 	 	KLHL2P1																		rs10006524	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FABP2(dist=22006),LINC01061(dist=61356)	FABP2(dist=22006),AK097701(dist=33965)	ENSG00000250412	Na	Na	Na	Na	Na	Na	Het;A>G	43;1|3	Hom;A>G	112;0|5
N	N	-	4	120327166	120327166	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01061																		rs192765835	0	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	LINC01061	FLJ14186(uc003idb.4:c.*3753A>G)	ENSG00000249244(dist=10676),ENSG00000260091(dist=3322)	Na	Na	Na	Na	Na	Na	Het;T>C	487;5|19	Hom;T>C	1356;2|34
N	N	-	4	120371017	120371025	CAATGTCTG	C	indel	ncRNA_exonic	 	 	 	 	BC070391																		rs70944881	0.275359	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_intronic	LINC01061(dist=39202),LOC645513(dist=4913)	BC070391	ENSG00000248280	Na	Na	Na	Na	Na	Na	Het;-AATGTCTG	1399;2|35	Hom;-AATGTCTG	1159;3|38
N	N	-	4	1205667	1205667	A	C	snp	UTR3	*361T>G	 	 	 	CTBP1	Ctbp1	ENSG00000159692	C-terminal binding protein 1	chr4:1205236-1243741	This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; diabetic nephropathy; hypertension	Mice homozygous for a knock-out allele display partial postnatal lethality and decreased body size.	TCF7L2 mutants don't bind CTBP	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;TAS|GO:0008152;metabolic process;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0019079;viral genome replication;TAS|GO:0030154;cell differentiation;IEA|GO:0031065;positive regulation of histone deacetylation;IMP|GO:0035067;negative regulation of histone acetylation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0050872;white fat cell differentiation;ISS|GO:0051726;regulation of cell cycle;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0090241;negative regulation of histone H4 acetylation;IMP|GO:1903758;negative regulation of transcription from RNA polymerase II promoter by histone modification;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0017053;transcriptional repressor complex;IDA	GO:0001106;RNA polymerase II transcription corepressor activity;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;TAS|GO:0008134;transcription factor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019904;protein domain specific binding;IDA|GO:0051287;NAD binding;ISS|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CTBP1		https://hpo.jax.org/app/browse/search?q=CTBP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602618	http://www.informatics.jax.org/searchtool/Search.do?query=CTBP1&submit=Quick%0D%10363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBP1	rs1045480	0.481629	0	0	1	0	0	ncRNA_intronic	UTR3	UTR3	CTBP1-AS	CTBP1(uc003gcu.1:c.*361T>G,uc003gcv.1:c.*361T>G,uc003gcw.3:c.*361T>G)	ENSG00000159692(ENST00000290921:c.*361T>G,ENST00000382952:c.*361T>G,ENST00000503594:c.*361T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	105;2|7	Hom;A>C	219;0|9
N	N	-	4	120725734	120725734	T	C	snp	upstream	 	 	 	 	BC038750																		rs13119094	0.288139	0	0	1	0	0	upstream	upstream	upstream	LINC01365	BC038750	ENSG00000250772	Na	Na	Na	Na	Na	Na	Het;T>C	445;17|17	Hom;T>C	933;1|32
N	N	-	4	121012177	121012177	T	C	snp	ncRNA_intronic	 	 	 	 	AC108866.1																		rs6534168	0.501398	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MAD2L1(dist=24164),PRDM5(dist=600891)	MAD2L1(dist=24164),PRDM5(dist=603752)	ENSG00000250938	Na	Na	Na	Na	Na	Na	Het;T>C	77;4|3	Hom;T>C	120;0|6
N	N	-	4	122291522	122291522	T	C	snp	intronic	 	 	 	 	QRFPR	Qrfpr	ENSG00000186867	pyroglutamylated RFamide peptide receptor	chr4:122250467-122302214		Coronary Artery Disease; Tunica Media; Triglycerides	Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae.	G alpha (q) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:1901652;response to peptide;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0042277;peptide binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/QRFPR			https://www.ncbi.nlm.nih.gov/omim/?term=606925	http://www.informatics.jax.org/searchtool/Search.do?query=QRFPR&submit=Quick%0D%15726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRFPR	rs2013332	0.645567	0	0	1	0	0	intronic	intronic	intronic	QRFPR	QRFPR	ENSG00000186867	Na	Na	Na	Na	Na	Na	Het;T>C	345;9|13	Hom;T>C	542;0|17
N	N	-	4	122451829	122451829	C	T	snp	intergenic	 	 	 	 	TUBB4BP5																		rs9994817	0.640375	0	0	1	0	0	intergenic	intergenic	intergenic	QRFPR(dist=149648),ANXA5(dist=137323)	QRFPR(dist=149648),ANXA5(dist=137323)	ENSG00000224062(dist=78707),ENSG00000164111(dist=137281)	Na	Na	Na	Na	Na	Na	Het;C>T	466;27|26	Hom;C>T	994;0|39
N	N	-	4	122649472	122649472	A	G	snp	intergenic	 	 	 	 	ANXA5	Anxa5	ENSG00000164111	annexin A5	chr4:122589110-122618268	The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]	metabolic syndrome; pregnancy loss; pregnancy complications; preeclampsia; myocardial infarct; cardiac death; Femur Head Necrosis|; pregnancy loss, recurrent; Tunica Media; Cerebral Palsy; annexin A5 antibodies; Kidney Failure, Chronic; Hemorrhagic Disorders; Venous Thrombosis; Myocardial Infarction; Diabetes Mellitus, Type 2; Pulmonary Disease, Chronic Obstructive; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thromboembolism; Cerebral Palsy|	Homozygous null mice are viable, fertile, and develop normally. Bone development and maintenance are normal, as are clinical-chemical parameters.	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0010033;response to organic substance;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043086;negative regulation of catalytic activity;IEA|GO:0050819;negative regulation of coagulation;IEA	GO:0005576;extracellular region;TAS|GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA|GO:0072563;endothelial microparticle;IEA	GO:0004859;phospholipase inhibitor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;TAS|GO:0005544;calcium-dependent phospholipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANXA5			https://www.ncbi.nlm.nih.gov/omim/?term=131230	http://www.informatics.jax.org/searchtool/Search.do?query=ANXA5&submit=Quick%0D%11204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA5	rs11735985	0.463658	0	0	1	0	0	intergenic	intergenic	intergenic	ANXA5(dist=31325),TMEM155(dist=30613)	ANXA5(dist=31325),TMEM155(dist=30613)	ENSG00000164111(dist=31204),ENSG00000164112(dist=30616)	Na	Na	Na	Na	Na	Na	Het;A>G	225;11|10	Hom;A>G	631;2|20
N	N	-	4	122996920	122996920	G	GGCCA	indel	intergenic	 	 	 	 	TRPC3	Trpc3	ENSG00000138741	transient receptor potential cation channel subfamily C member 3	chr4:122800182-122872909	The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Narcolepsy	Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. Abnormal nervous system electrophysiology is also described. An A1903G point mutation in exon 7 results in homozygous lethality.	Role of second messengers in netrin-1 signaling	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006828;manganese ion transport;IBA|GO:0007338;single fertilization;IBA|GO:0007602;phototransduction;TAS|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0030168;platelet activation;TAS|GO:0033198;response to ATP;IDA|GO:0051592;response to calcium ion;IDA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903244;positive regulation of cardiac muscle hypertrophy in response to stress;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;TAS|GO:0070679;inositol 1,4,5 trisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRPC3	https://www.uniprot.org/uniprot/Q13507	https://hpo.jax.org/app/browse/search?q=TRPC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602345	http://www.informatics.jax.org/searchtool/Search.do?query=TRPC3&submit=Quick%0D%7785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC3	rs147293627	0	0	0	1	0	0	intergenic	intergenic	intergenic	TRPC3(dist=124011),KIAA1109(dist=94838)	TRPC3(dist=124011),Metazoa_SRP(dist=11745)	ENSG00000138741(dist=124011),ENSG00000237868(dist=2075)	Na	Na	Na	Na	Na	Na	Het;+GCCA	639;33|26	Hom;+GCCA	1729;0|42
N	N	-	4	123536963	123536963	G	A	snp	synonymous SNV	C234T	C78C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	IL21	Il21	ENSG00000138684	interleukin 21	chr4:123533783-123542224	This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Celiac Disease|; respiratory syncytial virus bronchiolitis; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; Lupus Erythematosus, Systemic; celiac disease; Wegener's granulomatosis; coeliac disease; Addison Disease|; Celiac disease; Arthritis, Rheumatoid|Autoimmune Diseases|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Sjogren's Syndrome|Systemic lupus erythematosus; Alopecia Areata|Autoimmune Diseases; Arthritis, Rheumatoid|Rheumatoid Arthritis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Celiac Disease|Colitis, Ulcerative|; Colitis, Ulcerative|Crohn Disease|; Multiple Sclerosis; Asthma|Hypersensitivity, Immediate; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Arthritis, Rheumatoid|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 	Mice homozygous for disruptions in this gene develop normally and have a normal life span. One allele exhibits enhanced IgE isotype switch and IgE production after antigen immunization.		GO:0001819;positive regulation of cytokine production;IDA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;NAS|GO:0007260;tyrosine phosphorylation of STAT protein;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0034105;positive regulation of tissue remodeling;IC|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;NAS|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IDA|GO:0048469;cell maturation;IDA|GO:0050729;positive regulation of inflammatory response;IC	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA	GO:0005125;cytokine activity;IEA|GO:0005126;cytokine receptor binding;TAS|GO:0005134;interleukin-2 receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL21	https://www.uniprot.org/uniprot/Q9HBE4	https://hpo.jax.org/app/browse/search?q=IL21&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605384	http://www.informatics.jax.org/searchtool/Search.do?query=IL21&submit=Quick%0D%7775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL21	rs4833837	0.840455	0.7653	0.7434	1	0	0	exonic	exonic	exonic	IL21	IL21	ENSG00000138684	synonymous SNV	synonymous SNV	unknown	IL21:NM_021803:exon3:c.C234T:p.C78C,IL21:NM_001207006:exon3:c.C234T:p.C78C,	IL21:uc010int.4:exon3:c.C234T:p.C78C,IL21:uc003ies.3:exon3:c.C234T:p.C78C,	UNKNOWN	Het;G>A	1944;94|97	Hom;G>A	4235;0|159
N	N	-	4	123547541	123547541	C	T	snp	ncRNA_exonic	 	 	 	 	IL21-AS1																		rs4295278	0.984225	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	IL21-AS1	BC045668	ENSG00000227145	Na	Na	Na	Na	Na	Na	Het;C>T	1886;96|92	Hom;C>T	4066;0|150
N	N	-	4	123548068	123548068	A	G	snp	ncRNA_intronic	 	 	 	 	BC045668																		rs1398553	0.843051	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	IL21-AS1	BC045668	ENSG00000227145	Na	Na	Na	Na	Na	Na	Het;A>G	142;2|5	Hom;A>G	170;0|5
N	N	-	4	124473862	124473862	G	A	snp	intergenic	 	 	 	 	LINC02435																		rs4385076	0.604433	0	0	1	0	0	intergenic	intergenic	intergenic	SPRY1(dist=148947),LINC01091(dist=100078)	TRNA_Cys(dist=43786),LOC285419(dist=97560)	ENSG00000251526(dist=25182),ENSG00000249464(dist=97560)	Na	Na	Na	Na	Na	Na	Het;G>A	227;2|10	Hom;G>A	496;0|17
N	N	-	4	125001341	125001341	T	TA	indel	intergenic	 	 	 	 	AC108075.1																		rs11375953	0.855631	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01091(dist=149823),LOC101927087(dist=419756)	LOC285419(dist=149823),AK057455(dist=419756)	ENSG00000250484(dist=17196),ENSG00000249837(dist=69191)	Na	Na	Na	Na	Na	Na	Het;+A	878;13|45	Hom;+A	840;4|37
N	N	-	4	125385043	125385043	A	G	snp	upstream	 	 	 	 	TECRP2																		rs1353003	0.231629	0	0	1	0	0	intergenic	intergenic	upstream	LINC01091(dist=533525),LOC101927087(dist=36054)	LOC285419(dist=533525),AK057455(dist=36054)	ENSG00000248565	Na	Na	Na	Na	Na	Na	Het;A>G	71;9|5	Hom;A>G	394;0|15
N	N	-	4	125425570	125425570	T	G	snp	ncRNA_intronic	 	 	 	 	AK057455																		rs6534442	0.197484	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927087	AK057455	ENSG00000261083	Na	Na	Na	Na	Na	Na	Het;T>G	1559;60|72	Hom;T>G	3179;2|120
N	N	-	4	125425698	125425698	C	T	snp	ncRNA_intronic	 	 	 	 	AK057455																		rs6534443	0.198882	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927087	AK057455	ENSG00000261083	Na	Na	Na	Na	Na	Na	Het;C>T	247;9|10	Hom;C>T	711;0|23
N	N	-	4	125455249	125455249	C	T	snp	ncRNA_intronic	 	 	 	 	AK057455																		rs28733585	0.35004	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927087	AK057455	ENSG00000261083	Na	Na	Na	Na	Na	Na	Het;C>T	84;3|5	Hom;C>T	455;0|14
N	N	-	4	125455457	125455457	G	A	snp	ncRNA_intronic	 	 	 	 	AK057455																		rs1509525	0.291534	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927087	AK057455	ENSG00000261083	Na	Na	Na	Na	Na	Na	Het;G>A	787;27|37	Hom;G>A	1862;0|68
N	N	-	4	127485630	127485630	A	C	snp	ncRNA_exonic	 	 	 	 	RBM48P1																		rs313098	0.351637	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR2054(dist=1057168),INTU(dist=1068457)	MIR2054(dist=1057168),INTU(dist=1068457)	ENSG00000223620	Na	Na	Na	Na	Na	Na	Het;A>C	71;6|4	Hom;A>C	141;0|6
N	N	-	4	129776983	129776983	C	CT	indel	intronic	 	 	 	 	JADE1	Jade1	ENSG00000077684	jade family PHD finger 1	chr4:129730779-129796379			Though mice homozygous for mutations of this locus show no overt phenotype at birth, fewer survive to weaning than expected by Mendelian ratios.	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0006950;response to stress;NAS|GO:0030308;negative regulation of cell growth;NAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043983;histone H4-K12 acetylation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JADE1	https://www.uniprot.org/uniprot/Q6IE81		https://www.ncbi.nlm.nih.gov/omim/?term=610514	http://www.informatics.jax.org/searchtool/Search.do?query=JADE1&submit=Quick%0D%1633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JADE1	rs76983300	0	0.4526	0.5569	1	0	0	intronic	intronic	intronic	JADE1	PHF17	ENSG00000077684	Na	Na	Na	Na	Na	Na	Het;+T	281;11|14	Hom;+T	419;1|18
N	N	-	4	129924977	129924977	C	A	snp	synonymous SNV	G345T	L115L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SCLT1	Sclt1	ENSG00000151466	sodium channel and clathrin linker 1	chr4:129786076-130014764	This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]		Homozygous knockout causes polycystic kidney disease, impaired postnatal weight gain and premature death (before 1 month of age).	Anchoring of the basal body to the plasma membrane	GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0060271;cilium assembly;IMP|GO:0065009;regulation of molecular function;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA|GO:0071439;clathrin complex;IEA|GO:0097539;ciliary transition fiber;IDA	GO:0008022;protein C-terminus binding;IEA|GO:0017080;sodium channel regulator activity;IEA|GO:0030276;clathrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCLT1	https://www.uniprot.org/uniprot/Q96NL6		https://www.ncbi.nlm.nih.gov/omim/?term=611399	http://www.informatics.jax.org/searchtool/Search.do?query=SCLT1&submit=Quick%0D%9423ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCLT1	rs3113487	0.540136	0.5411	0.6267	1	0	0	exonic	exonic	exonic	SCLT1	SCLT1	ENSG00000151466	synonymous SNV	synonymous SNV	unknown	SCLT1:NM_144643:exon6:c.G345T:p.L115L,	SCLT1:uc003igq.2:exon6:c.G345T:p.L115L,SCLT1:uc003igp.2:exon6:c.G345T:p.L115L,	UNKNOWN	Het;C>A	1129;97|61	Hom;C>A	4543;0|170
N	N	-	4	130030944	130030944	C	A	snp	UTR3	*113C>A	 	 	 	C4orf33	D3Ertd751e	ENSG00000151470	chromosome 4 open reading frame 33	chr4:130014472-130037795		Echocardiography; Coronary Artery Disease; Hypertension; Obesity; Blood Pressure; Maximal Midexpiratory Flow Rate; Inflammation; Uric Acid; Respiratory Function Tests; Stroke	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C4orf33	https://www.uniprot.org/uniprot/Q8N1A6			http://www.informatics.jax.org/searchtool/Search.do?query=C4orf33&submit=Quick%0D%9425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf33	rs337276	0.532348	0	0	1	0	0	intronic	UTR3	UTR3	C4orf33	C4orf33(uc010ioc.1:c.*113C>A)	ENSG00000151470(ENST00000502887:c.*113C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	118;6|5	Hom;C>A	437;0|14
N	N	-	4	130057995	130057995	T	C	snp	ncRNA_intronic	 	 	 	 	ZSWIM5P3																		rs17014246	0.190695	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	C4orf33(dist=24152),LOC101927282(dist=587331)	C4orf33(dist=24152),Mir_340(dist=249139)	ENSG00000248958	Na	Na	Na	Na	Na	Na	Het;T>C	92;2|5	Hom;T>C	120;0|6
N	N	-	4	131442768	131442772	GGAGA	G	indel	intergenic	 	 	 	 	GAPDHP56																		rs112481702	0.384585	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927282(dist=750135),LOC101927305(dist=1243221)	BC041448(dist=566245),BC131768(dist=1206481)	ENSG00000249018(dist=17269),ENSG00000250503(dist=359410)	Na	Na	Na	Na	Na	Na	Het;-GAGA	1016;27|27	Hom;-GAGA	3299;0|76
N	N	-	4	133262774	133262774	C	T	snp	intergenic	 	 	 	 	AC096711.3																		rs904521	0.595447	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927305(dist=550137),LINC01256(dist=249470)	BC131768(dist=611608),BC040219(dist=752242)	ENSG00000251598(dist=217588),ENSG00000251051(dist=26167)	Na	Na	Na	Na	Na	Na	Het;C>T	129;6|6	Hom;C>T	617;0|22
N	N	-	4	133265931	133265931	C	G	snp	intergenic	 	 	 	 	AC096711.3																		rs9998479	0.868011	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927305(dist=553294),LINC01256(dist=246313)	BC131768(dist=614765),BC040219(dist=749085)	ENSG00000251598(dist=220745),ENSG00000251051(dist=23010)	Na	Na	Na	Na	Na	Na	Het;C>G	302;2|8	Hom;C>G	197;0|8
N	N	-	4	133538419	133538419	C	A	snp	ncRNA_intronic	 	 	 	 	LINC01256																		rs5022834	0.736422	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01256	BC131768(dist=887253),BC040219(dist=476597)	ENSG00000251398	Na	Na	Na	Na	Na	Na	Het;C>A	583;17|17	Hom;C>A	647;0|15
N	N	-	4	133538441	133538441	G	A	snp	ncRNA_intronic	 	 	 	 	LINC01256																		rs5022835	0.736422	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01256	BC131768(dist=887275),BC040219(dist=476575)	ENSG00000251398	Na	Na	Na	Na	Na	Na	Het;G>A	540;17|15	Hom;G>A	647;0|15
N	N	-	4	134015740	134015740	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927359																		rs72715718	0.226038	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;T>C	628;32|27	Hom;T>C	1666;0|55
N	N	-	4	134016473	134016473	A	T	snp	ncRNA_exonic	 	 	 	 	LOC101927359																		rs62311774	0.226238	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;A>T	1009;53|47	Hom;A>T	3273;2|120
N	N	-	4	134016660	134016660	A	ATTCAACAG	indel	ncRNA_exonic	 	 	 	 	LOC101927359																		rs76765752	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;+TTCAACAG	2057;105|56	Hom;+TTCAACAG	4651;0|100
N	N	-	4	134016663	134016663	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101927359																		rs202225393	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;G>A	1959;107|55	Hom;G>A	4292;0|93
N	N	-	4	134016668	134016668	T	A	snp	ncRNA_exonic	 	 	 	 	LOC101927359																		rs1507829	0.286342	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;T>A	1916;111|54	Hom;T>A	4181;0|94
N	N	-	4	134017909	134017909	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927359																		rs10518628	0.226038	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;T>C	1461;64|68	Hom;T>C	4773;4|171
N	N	-	4	134046923	134046923	A	G	snp	ncRNA_exonic	 	 	 	 	R3HDM2P1																		rs4263412	0.295727	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000248735	Na	Na	Na	Na	Na	Na	Het;A>G	480;6|12	Hom;A>G	782;0|18
N	N	-	4	134046930	134046930	C	A	snp	ncRNA_exonic	 	 	 	 	R3HDM2P1																		rs4404561	0.294529	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC101927359	BC040219	ENSG00000248735	Na	Na	Na	Na	Na	Na	Het;C>A	501;6|14	Hom;C>A	817;0|19
N	N	-	4	134060045	134060045	T	G	snp	ncRNA_intronic	 	 	 	 	BC040219																		rs62311808	0.233427	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;T>G	728;41|32	Hom;T>G	3337;0|110
N	N	-	4	134060284	134060284	C	T	snp	ncRNA_intronic	 	 	 	 	BC040219																		rs10010228	0.50619	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;C>T	274;7|10	Hom;C>T	514;0|15
N	N	-	4	134061825	134061825	T	C	snp	ncRNA_intronic	 	 	 	 	BC040219																		rs1396013	0.233227	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;T>C	930;43|45	Hom;T>C	1619;0|60
N	N	-	4	134063756	134063756	T	C	snp	ncRNA_intronic	 	 	 	 	BC040219																		rs28452514	0.50619	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;T>C	88;7|4	Hom;T>C	656;0|17
N	N	-	4	134063974	134063974	T	C	snp	ncRNA_intronic	 	 	 	 	BC040219																		rs13150804	0.50619	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927359	BC040219	ENSG00000250241	Na	Na	Na	Na	Na	Na	Het;T>C	1018;46|46	Hom;T>C	2608;0|94
N	N	-	4	1348691	1348691	T	TG	indel	intronic	 	 	 	 	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs33989352	0.225839	0	0	1	0	0	intronic	intronic	intronic	UVSSA	UVSSA	ENSG00000163945	Na	Na	Na	Na	Na	Na	Het;+G	497;33|25	Hom;+G	1739;2|67
N	N	-	4	1348806	1348806	A	C	snp	intronic	 	 	 	 	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs3903127	0.337061	0	0	1	0	0	intronic	intronic	intronic	UVSSA	UVSSA	ENSG00000163945	Na	Na	Na	Na	Na	Na	Het;A>C	111;14|5	Hom;A>C	762;0|24
N	N	-	4	13545688	13545688	G	C	snp	synonymous SNV	C351G	G117G	aliphatic,neutral	aliphatic,neutral	NKX3-2	Nkx3-2	ENSG00000109705	NK3 homeobox 2	chr4:13542454-13546674	This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]	SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA	Homozygous null mutants are perinatal lethal, lack a spleen, and display skeletal dysplasia of the vertebral column and cranium.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001501;skeletal system development;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0031016;pancreas development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0048513;animal organ development;IEA|GO:0048536;spleen development;IEA|GO:0048645;animal organ formation;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0055123;digestive system development;IEA|GO:0060576;intestinal epithelial cell development;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NKX3-2	https://www.uniprot.org/uniprot/P78367	https://hpo.jax.org/app/browse/search?q=NKX3-2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602183	http://www.informatics.jax.org/searchtool/Search.do?query=NKX3-2&submit=Quick%0D%3876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX3-2	rs145908097	0.0183706	0.0065	0.0439	1	0	0	exonic	exonic	exonic	NKX3-2	NKX3-2	ENSG00000109705	synonymous SNV	synonymous SNV	unknown	NKX3-2:NM_001189:exon1:c.C351G:p.G117G,	NKX3-2:uc003gmx.2:exon1:c.C351G:p.G117G,	UNKNOWN	Het;G>C	371;20|18	Hom;G>C	1157;0|42
N	N	-	4	13548911	13548911	C	A	snp	nonsynonymous SNV	G31T	A11S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	LOC285548																		rs73231543	0.105431	0	0.1952	1	0	0	ncRNA_exonic	exonic	ncRNA_intronic	LINC01096	LOC285548	ENSG00000246095	Na	nonsynonymous SNV	Na	Na	LOC285548:uc011bxa.1:exon1:c.G31T:p.A11S,	Na	Het;C>A	2434;111|110	Hom;C>A	4985;1|184
N	N	-	4	13549418	13549418	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01096																		rs6855736	0.145168	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	LINC01096	LOC285548(uc011bxa.1:c.-477T>G)	ENSG00000246095	Na	Na	Na	Na	Na	Na	Het;A>C	207;16|12	Hom;A>C	472;0|19
N	N	-	4	13549431	13549431	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01096																		rs112266676	0.116014	0	0	1	0	0	ncRNA_exonic	UTR5	upstream	LINC01096	LOC285548(uc011bxa.1:c.-490T>C)	ENSG00000246095	Na	Na	Na	Na	Na	Na	Het;A>G	144;15|10	Hom;A>G	360;0|15
N	N	-	4	13571867	13571867	C	A	snp	intronic	 	 	 	 	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs17806666	0.101637	0	0	1	0	0	intronic	intronic	intronic	BOD1L1	BOD1L1	ENSG00000038219	Na	Na	Na	Na	Na	Na	Het;C>A	486;19|21	Hom;C>A	521;0|19
N	N	-	4	13575070	13575070	A	G	snp	intronic	 	 	 	 	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs28713289	0.182708	0	0	1	0	0	intronic	intronic	intronic	BOD1L1	BOD1L1	ENSG00000038219	Na	Na	Na	Na	Na	Na	Het;A>G	332;6|9	Hom;A>G	602;0|14
N	N	-	4	13575086	13575098	ATCTATCTATCTT	A	indel	intronic	 	 	 	 	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs755478569	0	0	0	1	0	0	intronic	intronic	intronic	BOD1L1	BOD1L1	ENSG00000038219	Na	Na	Na	Na	Na	Na	Het;-TCTATCTATCTT	320;7|9	Hom;-TCTATCTATCTT	593;0|14
N	N	-	4	13583838	13583838	C	T	snp	intronic	 	 	 	 	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs17806907	0.140176	0.1592	0.1520	1	0	0	intronic	intronic	intronic	BOD1L1	BOD1L1	ENSG00000038219	Na	Na	Na	Na	Na	Na	Het;C>T	435;18|22	Hom;C>T	1213;0|47
N	N	-	4	13604182	13604182	T	C	snp	nonsynonymous SNV	A4342G	T1448A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs17745676	0.132788	0.1499	0.1445	0.15	2	13	exonic	exonic	exonic	BOD1L1	BOD1L1	ENSG00000038219	nonsynonymous SNV	nonsynonymous SNV	unknown	BOD1L1:NM_148894:exon10:c.A4342G:p.T1448A,	BOD1L1:uc003gmz.1:exon10:c.A4342G:p.T1448A,BOD1L1:uc010idr.1:exon10:c.A2353G:p.T785A,	UNKNOWN	Het;T>C	3707;135|161	Hom;T>C	8380;3|296
N	N	-	4	13604418	13604418	G	C	snp	nonsynonymous SNV	C4106G	A1369G	aliphatic,hydrophobic,neutral	aliphatic,neutral	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs17745712	0.138778	0.1546	0.1459	0.08	1	13	exonic	exonic	exonic	BOD1L1	BOD1L1	ENSG00000038219	nonsynonymous SNV	nonsynonymous SNV	unknown	BOD1L1:NM_148894:exon10:c.C4106G:p.A1369G,	BOD1L1:uc003gmz.1:exon10:c.C4106G:p.A1369G,BOD1L1:uc010idr.1:exon10:c.C2117G:p.A706G,	UNKNOWN	Het;G>C	2140;107|99	Hom;G>C	5364;2|187
N	N	-	4	13612486	13612486	C	T	snp	intronic	 	 	 	 	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs1491251	0.132388	0	0	1	0	0	intronic	intronic	intronic	BOD1L1	BOD1L1	ENSG00000038219	Na	Na	Na	Na	Na	Na	Het;C>T	103;14|6	Hom;C>T	481;0|15
N	N	-	4	13615174	13615174	G	A	snp	nonsynonymous SNV	C1286T	T429M	polar,hydrophilic,neutral	hydrophobic,neutral	BOD1L1	Bod1l	ENSG00000038219	biorientation of chromosomes in cell division 1 like 1	chr4:13570362-13629347		Tobacco Use Disorder	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA	GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1	https://www.uniprot.org/uniprot/Q8NFC6		https://www.ncbi.nlm.nih.gov/omim/?term=616746	http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1	rs2035820	0.13738	0.1527	0.1455	0.15	2	13	exonic	exonic	exonic	BOD1L1	BOD1L1	ENSG00000038219	nonsynonymous SNV	nonsynonymous SNV	unknown	BOD1L1:NM_148894:exon5:c.C1286T:p.T429M,	BOD1L1:uc003gmz.1:exon5:c.C1286T:p.T429M,	UNKNOWN	Het;G>A	1396;71|70	Hom;G>A	3546;2|131
N	N	-	4	1369093	1369093	C	G	snp	intronic	 	 	 	 	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs11941200	0.780152	0	0	1	0	0	intronic	intronic	intronic	UVSSA	UVSSA	ENSG00000163945	Na	Na	Na	Na	Na	Na	Het;C>G	1184;16|30	Hom;C>G	1941;0|44
N	N	-	4	1369094	1369094	T	G	snp	intronic	 	 	 	 	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs11946956	0.780152	0	0	1	0	0	intronic	intronic	intronic	UVSSA	UVSSA	ENSG00000163945	Na	Na	Na	Na	Na	Na	Het;T>G	1184;16|30	Hom;T>G	1941;0|44
N	N	-	4	1369885	1369885	G	A	snp	synonymous SNV	G150A	A50A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs11724369	0.182308	0.2825	0.3676	1	0	0	exonic	exonic	exonic	UVSSA	UVSSA	ENSG00000163945	synonymous SNV	synonymous SNV	unknown	UVSSA:NM_020894:exon10:c.G1497A:p.A499A,	UVSSA:uc010ibv.3:exon3:c.G150A:p.A50A,UVSSA:uc003gde.4:exon10:c.G1497A:p.A499A,	UNKNOWN	Het;G>A	675;40|35	Hom;G>A	2537;1|98
N	N	-	4	137384748	137384748	T	A	snp	intergenic	 	 	 	 	AC018680.1																		rs6535148	0.699081	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00613(dist=549913),PCDH18(dist=1055325)	NONE(dist=NONE),BC031238(dist=730162)	ENSG00000251567(dist=68122),ENSG00000264362(dist=243585)	Na	Na	Na	Na	Na	Na	Het;T>A	177;11|9	Hom;T>A	496;0|16
N	N	-	4	1374695	1374695	C	A	snp	synonymous SNV	C433A	R145R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs28614045	0.70028	0.6910	0.6940	1	0	0	exonic	exonic	exonic	UVSSA	UVSSA	ENSG00000163945	synonymous SNV	synonymous SNV	unknown	UVSSA:NM_020894:exon12:c.C1780A:p.R594R,	UVSSA:uc010ibv.3:exon5:c.C433A:p.R145R,UVSSA:uc003gde.4:exon12:c.C1780A:p.R594R,	UNKNOWN	Het;C>A	944;35|44	Hom;C>A	2462;0|90
N	N	-	4	1374774	1374774	C	T	snp	nonsynonymous SNV	C1859T	P620L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs28522910	0.696486	0.6907	0.6946	0.54	7	13	exonic	exonic	exonic	UVSSA	UVSSA	ENSG00000163945	nonsynonymous SNV	nonsynonymous SNV	unknown	UVSSA:NM_020894:exon12:c.C1859T:p.P620L,	UVSSA:uc010ibv.3:exon5:c.C512T:p.P171L,UVSSA:uc003gde.4:exon12:c.C1859T:p.P620L,	UNKNOWN	Het;C>T	795;42|41	Hom;C>T	1591;0|61
N	N	-	4	1374789	1374789	A	G	snp	intronic	 	 	 	 	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs28733902	0.763578	0.7530	0.7161	1	0	0	intronic	intronic	intronic	UVSSA	UVSSA	ENSG00000163945	Na	Na	Na	Na	Na	Na	Het;A>G	671;41|32	Hom;A>G	1402;0|53
N	N	-	4	1377615	1377615	A	G	snp	synonymous SNV	A576G	S192S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	UVSSA	Uvssa	ENSG00000163945	UV stimulated scaffold protein A	chr4:1341054-1381837	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Longevity	 	Gap-filling DNA repair synthesis and ligation in TC-NER	GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP	GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA	GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UVSSA		https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614632	http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA	rs9996817	0.717252	0.7205	0.7195	1	0	0	exonic	exonic	exonic	UVSSA	UVSSA	ENSG00000163945	synonymous SNV	synonymous SNV	unknown	UVSSA:NM_020894:exon13:c.A1923G:p.S641S,	UVSSA:uc010ibv.3:exon6:c.A576G:p.S192S,UVSSA:uc003gde.4:exon13:c.A1923G:p.S641S,	UNKNOWN	Het;A>G	781;51|40	Hom;A>G	2189;0|83
N	N	-	4	1388350	1388350	G	GTGCCCATGTGGAGTGCCCGCCTGCTCACACA	indel	frameshift substitution	51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA	 	 	 	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs750778284	0	0	0.0576	1	0	0	exonic	exonic	exonic	CRIPAK	CRIPAK	ENSG00000179979	frameshift substitution	frameshift substitution	unknown	CRIPAK:NM_175918:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA,	CRIPAK:uc003gdf.2:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA,	UNKNOWN	Het;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA	1286;47|29	Hom;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA	3753;0|73
N	N	-	4	1388413	1388413	T	C	snp	synonymous SNV	T114C	C38C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs78309237	0.211661	0.3189	0.2554	1	0	0	exonic	exonic	exonic	CRIPAK	CRIPAK	ENSG00000179979	synonymous SNV	synonymous SNV	unknown	CRIPAK:NM_175918:exon1:c.T114C:p.C38C,	CRIPAK:uc003gdf.2:exon1:c.T114C:p.C38C,	UNKNOWN	Het;T>C	1663;58|44	Hom;T>C	4001;0|89
N	N	-	4	1388429	1388429	G	A	snp	nonsynonymous SNV	G130A	A44T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs79298048	0.188498	0.3037	0.2488	0.17	2	12	exonic	exonic	exonic	CRIPAK	CRIPAK	ENSG00000179979	nonsynonymous SNV	nonsynonymous SNV	unknown	CRIPAK:NM_175918:exon1:c.G130A:p.A44T,	CRIPAK:uc003gdf.2:exon1:c.G130A:p.A44T,	UNKNOWN	Het;G>A	1707;59|51	Hom;G>A	3994;0|98
N	N	-	4	1395206	1395206	G	A	snp	intergenic	 	 	 	 	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs4074691	0.711661	0	0	1	0	0	intergenic	intergenic	intergenic	CRIPAK(dist=5424),NKX1-1(dist=1514)	CRIPAK(dist=5424),AX748388(dist=180582)	ENSG00000179979(dist=5426),ENSG00000235608(dist=1514)	Na	Na	Na	Na	Na	Na	Het;G>A	57;9|4	Hom;G>A	330;0|12
N	N	-	4	1397611	1397611	A	C	snp	intronic	 	 	 	 	NKX1-1		ENSG00000235608	NK1 homeobox 1	chr4:1396720-1400119			Mice homozygous for disruptions in this gene show poor growth and survival.  Most die within the first three weeks of life.  Those that reach adulthood are fertile but do not produce viable offspring.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006629;lipid metabolic process;IEA|GO:0008150;biological_process;ND|GO:0010906;regulation of glucose metabolic process;IEA|GO:0043467;regulation of generation of precursor metabolites and energy;IEA|GO:0050877;neurological system process;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NKX1-1				http://www.informatics.jax.org/searchtool/Search.do?query=NKX1-1&submit=Quick%0D%19346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX1-1	rs13133264	0.249002	0	0.3050	1	0	0	intronic	intergenic	intronic	NKX1-1	CRIPAK(dist=7829),AX748388(dist=178177)	ENSG00000235608	Na	Na	Na	Na	Na	Na	Het;A>C	632;24|29	Hom;A>C	1679;0|61
N	N	-	4	140217010	140217010	G	C	snp	UTR5	-58C>G	 	 	 	NDUFC1	Ndufc1	ENSG00000109390	NADH:ubiquinone oxidoreductase subunit C1	chr4:140188034-140223705	The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]		 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFC1	https://www.uniprot.org/uniprot/O43677		https://www.ncbi.nlm.nih.gov/omim/?term=603844	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFC1&submit=Quick%0D%3845ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFC1	rs71606834	0.105831	0	0	1	0	0	UTR5	UTR5	UTR5	NDUFC1(NM_002494:c.-58C>G,NM_001184986:c.-58C>G,NM_001184990:c.-58C>G,NM_001184988:c.-58C>G,NM_001184987:c.-58C>G,NM_001184991:c.-58C>G,NM_001184989:c.-58C>G)	NDUFC1(uc003ihs.3:c.-58C>G,uc021xrz.1:c.-58C>G,uc003iht.3:c.-58C>G,uc021xsa.1:c.-58C>G,uc021xsb.1:c.-58C>G,uc021xsc.1:c.-58C>G,uc021xsd.1:c.-58C>G)	ENSG00000109390(ENST00000539002:c.-58C>G,ENST00000544855:c.-58C>G,ENST00000539387:c.-58C>G,ENST00000394228:c.-58C>G,ENST00000505036:c.-58C>G,ENST00000394223:c.-58C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	62;9|4	Hom;G>C	160;0|7
N	N	-	4	140308984	140308984	C	A	snp	intronic	 	 	 	 	NAA15	Naa15	ENSG00000164134	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	chr4:140222609-140341187	This gene encodes a protein of unknown function. However, similarity to proteins in yeast and other species suggests that this protein may be an N-acetyltransferase. [provided by RefSeq, Jul 2008]	Congenital heart disease	 		GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0007275;multicellular organism development;IEA|GO:0017196;N-terminal peptidyl-methionine acetylation;IBA|GO:0030154;cell differentiation;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0050821;protein stabilization;IMP	GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0031415;NatA complex;IDA	GO:0003723;RNA binding;IDA|GO:0004596;peptide alpha-N-acetyltransferase activity;IBA|GO:0005515;protein binding;IPI|GO:0016407;acetyltransferase activity;IDA|GO:0043022;ribosome binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NAA15		https://hpo.jax.org/app/browse/search?q=NAA15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608000	http://www.informatics.jax.org/searchtool/Search.do?query=NAA15&submit=Quick%0D%11218ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA15	rs998310	0.574481	0	0	1	0	0	intronic	intronic	intronic	NAA15	NAA15	ENSG00000164134	Na	Na	Na	Na	Na	Na	Het;C>A	662;28|29	Hom;C>A	1673;0|61
N	N	-	4	140357563	140357563	T	C	snp	ncRNA_exonic	 	 	 	 	ACA64																		rs1057522	0.570887	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NAA15(dist=45628),RAB33B(dist=17398)	NAA15(dist=45628),RAB33B(dist=17398)	ENSG00000239005	Na	Na	Na	Na	Na	Na	Het;T>C	150;13|10	Hom;T>C	410;0|14
N	N	-	4	141290574	141290574	C	T	snp	ncRNA_intronic	 	 	 	 	SCOC-AS1																		rs2668577	0.952276	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	SCOC-AS1	LOC100129858,SCOC	ENSG00000196951	Na	Na	Na	Na	Na	Na	Het;C>T	72;11|4	Hom;C>T	659;0|23
N	N	-	4	141868736	141868736	G	T	snp	intronic	 	 	 	 	RNF150	Rnf150	ENSG00000170153	ring finger protein 150	chr4:141780961-142134031		Tobacco Use Disorder; Lipoproteins, VLDL; C-Reactive Protein; Blood Cells; Conduct Disorder; Cholesterol, LDL; Cholesterol	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF150				http://www.informatics.jax.org/searchtool/Search.do?query=RNF150&submit=Quick%0D%12639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF150	rs2321687	0.481629	0	0	1	0	0	intronic	intronic	intronic	RNF150	RNF150	ENSG00000170153	Na	Na	Na	Na	Na	Na	Het;G>T	41;6|4	Hom;G>T	451;0|16
N	N	-	4	141870648	141870648	G	A	snp	intronic	 	 	 	 	RNF150	Rnf150	ENSG00000170153	ring finger protein 150	chr4:141780961-142134031		Tobacco Use Disorder; Lipoproteins, VLDL; C-Reactive Protein; Blood Cells; Conduct Disorder; Cholesterol, LDL; Cholesterol	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF150				http://www.informatics.jax.org/searchtool/Search.do?query=RNF150&submit=Quick%0D%12639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF150	rs4956494	0.412141	0	0	1	0	0	intronic	intronic	intronic	RNF150	RNF150	ENSG00000170153	Na	Na	Na	Na	Na	Na	Het;G>A	95;2|4	Hom;G>A	242;0|8
N	N	-	4	141989050	141989050	T	G	snp	intronic	 	 	 	 	RNF150	Rnf150	ENSG00000170153	ring finger protein 150	chr4:141780961-142134031		Tobacco Use Disorder; Lipoproteins, VLDL; C-Reactive Protein; Blood Cells; Conduct Disorder; Cholesterol, LDL; Cholesterol	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF150				http://www.informatics.jax.org/searchtool/Search.do?query=RNF150&submit=Quick%0D%12639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF150	rs4627935	0.63099	0	0	1	0	0	intronic	intronic	intronic	RNF150	RNF150	ENSG00000170153	Na	Na	Na	Na	Na	Na	Het;T>G	557;20|16	Hom;T>G	1041;0|24
N	N	-	4	141989051	141989051	G	A	snp	intronic	 	 	 	 	RNF150	Rnf150	ENSG00000170153	ring finger protein 150	chr4:141780961-142134031		Tobacco Use Disorder; Lipoproteins, VLDL; C-Reactive Protein; Blood Cells; Conduct Disorder; Cholesterol, LDL; Cholesterol	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF150				http://www.informatics.jax.org/searchtool/Search.do?query=RNF150&submit=Quick%0D%12639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF150	rs4515239	0.63099	0	0	1	0	0	intronic	intronic	intronic	RNF150	RNF150	ENSG00000170153	Na	Na	Na	Na	Na	Na	Het;G>A	557;20|16	Hom;G>A	1041;0|24
N	N	-	4	143324094	143324094	G	A	snp	synonymous SNV	C369T	D123D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	INPP4B	Inpp4b	ENSG00000109452	inositol polyphosphate-4-phosphatase type II B	chr4:142944313-143768585	INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Echocardiography; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption.	Synthesis of IP2, IP, and Ins in the cytosol	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0016316;phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017161;inositol-1,3,4-trisphosphate 4-phosphatase activity;TAS|GO:0034597;phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity;IEA|GO:0052828;inositol-3,4-bisphosphate 4-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP4B	https://www.uniprot.org/uniprot/O15327		https://www.ncbi.nlm.nih.gov/omim/?term=607494	http://www.informatics.jax.org/searchtool/Search.do?query=INPP4B&submit=Quick%0D%3849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP4B	rs1982966	0.252596	0.2579	0.3155	1	0	0	exonic	exonic	exonic	INPP4B	INPP4B	ENSG00000109452	synonymous SNV	synonymous SNV	unknown	INPP4B:NM_001101669:exon7:c.C369T:p.D123D,INPP4B:NM_003866:exon8:c.C369T:p.D123D,	INPP4B:uc003iix.4:exon8:c.C369T:p.D123D,INPP4B:uc003iiw.4:exon7:c.C369T:p.D123D,	UNKNOWN	Het;G>A	316;19|16	Hom;G>A	692;0|28
N	N	-	4	143552346	143552346	G	A	snp	ncRNA_intronic	 	 	 	 	AC139720.1																		rs13109603	0.625799	0	0	1	0	0	intronic	intronic	ncRNA_intronic	INPP4B	INPP4B	ENSG00000249806	Na	Na	Na	Na	Na	Na	Het;G>A	100;8|6	Hom;G>A	264;0|12
N	N	-	4	143552408	143552408	G	T	snp	ncRNA_intronic	 	 	 	 	AC139720.1																		rs13109664	0.625799	0	0	1	0	0	intronic	intronic	ncRNA_intronic	INPP4B	INPP4B	ENSG00000249806	Na	Na	Na	Na	Na	Na	Het;G>T	145;14|9	Hom;G>T	749;0|29
N	N	-	4	143602404	143602404	A	G	snp	intronic	 	 	 	 	INPP4B	Inpp4b	ENSG00000109452	inositol polyphosphate-4-phosphatase type II B	chr4:142944313-143768585	INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Echocardiography; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption.	Synthesis of IP2, IP, and Ins in the cytosol	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0016316;phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017161;inositol-1,3,4-trisphosphate 4-phosphatase activity;TAS|GO:0034597;phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity;IEA|GO:0052828;inositol-3,4-bisphosphate 4-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP4B	https://www.uniprot.org/uniprot/O15327		https://www.ncbi.nlm.nih.gov/omim/?term=607494	http://www.informatics.jax.org/searchtool/Search.do?query=INPP4B&submit=Quick%0D%3849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP4B	rs13102826	0.84345	0	0	1	0	0	intronic	intronic	intronic	INPP4B	INPP4B	ENSG00000109452	Na	Na	Na	Na	Na	Na	Het;A>G	1094;73|55	Hom;A>G	2886;0|100
N	N	-	4	143652317	143652317	T	C	snp	intronic	 	 	 	 	INPP4B	Inpp4b	ENSG00000109452	inositol polyphosphate-4-phosphatase type II B	chr4:142944313-143768585	INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Echocardiography; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption.	Synthesis of IP2, IP, and Ins in the cytosol	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0016316;phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017161;inositol-1,3,4-trisphosphate 4-phosphatase activity;TAS|GO:0034597;phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity;IEA|GO:0052828;inositol-3,4-bisphosphate 4-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP4B	https://www.uniprot.org/uniprot/O15327		https://www.ncbi.nlm.nih.gov/omim/?term=607494	http://www.informatics.jax.org/searchtool/Search.do?query=INPP4B&submit=Quick%0D%3849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP4B	rs1965828	0.683107	0	0	1	0	0	intronic	intronic	intronic	INPP4B	INPP4B	ENSG00000109452	Na	Na	Na	Na	Na	Na	Het;T>C	74;5|4	Hom;T>C	184;0|6
N	N	-	4	143652569	143652569	A	T	snp	intronic	 	 	 	 	INPP4B	Inpp4b	ENSG00000109452	inositol polyphosphate-4-phosphatase type II B	chr4:142944313-143768585	INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Echocardiography; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption.	Synthesis of IP2, IP, and Ins in the cytosol	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0016316;phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017161;inositol-1,3,4-trisphosphate 4-phosphatase activity;TAS|GO:0034597;phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity;IEA|GO:0052828;inositol-3,4-bisphosphate 4-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INPP4B	https://www.uniprot.org/uniprot/O15327		https://www.ncbi.nlm.nih.gov/omim/?term=607494	http://www.informatics.jax.org/searchtool/Search.do?query=INPP4B&submit=Quick%0D%3849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP4B	rs1465962	0.667931	0	0	1	0	0	intronic	intronic	intronic	INPP4B	INPP4B	ENSG00000109452	Na	Na	Na	Na	Na	Na	Het;A>T	65;1|3	Hom;A>T	109;0|4
N	N	-	4	144105698	144105698	G	A	snp	ncRNA_exonic	 	 	 	 	AC104596.1																		rs13137565	0.724042	0	0	1	0	0	upstream	upstream	ncRNA_exonic	USP38	USP38	ENSG00000250326	Na	Na	Na	Na	Na	Na	Het;G>A	411;29|23	Hom;G>A	1704;0|68
N	N	-	4	144106008	144106008	C	CGG	indel	ncRNA_exonic	 	 	 	 	AC104596.1																		rs746314623	0	0	0	1	0	0	upstream	upstream	ncRNA_exonic	USP38	USP38	ENSG00000250326	Na	Na	Na	Na	Na	Na	Het;+GG	134;4|4	Hom;+GG	98;0|3
N	N	-	4	144124492	144124492	G	A	snp	intronic	 	 	 	 	USP38	Usp38	ENSG00000170185	ubiquitin specific peptidase 38	chr4:144106070-144144983		Iron	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IDA		GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP38				http://www.informatics.jax.org/searchtool/Search.do?query=USP38&submit=Quick%0D%12646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP38	rs4234886	0.605631	0	0	1	0	0	intronic	intronic	intronic	USP38	USP38	ENSG00000170185	Na	Na	Na	Na	Na	Na	Het;G>A	387;18|17	Hom;G>A	1048;0|35
N	N	-	4	144135718	144135718	G	A	snp	synonymous SNV	G2589A	R863R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	USP38	Usp38	ENSG00000170185	ubiquitin specific peptidase 38	chr4:144106070-144144983		Iron	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IDA		GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP38				http://www.informatics.jax.org/searchtool/Search.do?query=USP38&submit=Quick%0D%12646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP38	rs4285045	0.726837	0.7221	0.6893	1	0	0	exonic	exonic	exonic	USP38	USP38	ENSG00000170185	synonymous SNV	synonymous SNV	unknown	USP38:NM_001290326:exon10:c.G1224A:p.R408R,USP38:NM_001290325:exon9:c.G2589A:p.R863R,USP38:NM_032557:exon9:c.G2589A:p.R863R,	USP38:uc003ijb.3:exon9:c.G2589A:p.R863R,USP38:uc003ija.4:exon9:c.G2589A:p.R863R,	UNKNOWN	Het;G>A	973;62|47	Hom;G>A	3801;0|136
N	N	-	4	144136193	144136193	T	G	snp	UTR3	*49T>G	 	 	 	USP38	Usp38	ENSG00000170185	ubiquitin specific peptidase 38	chr4:144106070-144144983		Iron	 		GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IDA		GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP38				http://www.informatics.jax.org/searchtool/Search.do?query=USP38&submit=Quick%0D%12646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP38	rs10000911	0.72484	0	0.7104	1	0	0	UTR3	UTR3	UTR3	USP38(NM_001290325:c.*49T>G)	USP38(uc003ija.4:c.*49T>G)	ENSG00000170185(ENST00000510377:c.*49T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	264;9|10	Hom;T>G	227;0|8
N	N	-	4	14478978	14478978	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00504																		rs9685388	0.550919	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00504	MGC4836	ENSG00000248360	Na	Na	Na	Na	Na	Na	Het;A>G	724;34|34	Hom;A>G	1935;0|72
N	N	-	4	145040784	145040784	T	C	snp	ncRNA_intronic	 	 	 	 	AC093890.1																		rs62334651	0.402556	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GYPA	GYPA	ENSG00000248828	Na	Na	Na	Na	Na	Na	Het;T>C	128;7|5	Hom;T>C	444;0|12
N	N	-	4	145040999	145040999	T	C	snp	ncRNA_intronic	 	 	 	 	AC093890.1																		rs62334652	0.359225	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GYPA	GYPA	ENSG00000248828	Na	Na	Na	Na	Na	Na	Het;T>C	273;14|12	Hom;T>C	519;0|18
N	N	-	4	145041011	145041012	AC	A	indel	ncRNA_intronic	 	 	 	 	AC093890.1																		rs70953778	0.352436	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GYPA	GYPA	ENSG00000248828	Na	Na	Na	Na	Na	Na	Het;-C	192;9|7	Hom;-C	424;0|12
N	N	-	4	145041036	145041036	G	A	snp	ncRNA_intronic	 	 	 	 	AC093890.1																		rs62334653	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GYPA	GYPA	ENSG00000248828	Na	Na	Na	Na	Na	Na	Het;G>A	33;3|2	Hom;G>A	137;0|5
N	N	-	4	146297328	146297328	G	A	snp	ncRNA_exonic	 	 	 	 	RTN3P1																		rs2044276	0.299121	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OTUD4(dist=196496),SMAD1(dist=105623)	OTUD4(dist=196496),SMAD1(dist=105623)	ENSG00000251333	Na	Na	Na	Na	Na	Na	Het;G>A	834;46|41	Hom;G>A	2296;0|86
N	N	-	4	146297853	146297853	C	T	snp	downstream	 	 	 	 	RTN3P1																		rs6810511	0.684505	0	0	1	0	0	intergenic	intergenic	downstream	OTUD4(dist=197021),SMAD1(dist=105098)	OTUD4(dist=197021),SMAD1(dist=105098)	ENSG00000251333	Na	Na	Na	Na	Na	Na	Het;C>T	1003;59|51	Hom;C>T	2650;0|103
N	N	-	4	146299108	146299110	AAC	A	indel	intergenic	 	 	 	 	RTN3P1																		rs138687171	0	0	0	1	0	0	intergenic	intergenic	intergenic	OTUD4(dist=198276),SMAD1(dist=103841)	OTUD4(dist=198276),SMAD1(dist=103841)	ENSG00000251333(dist=1703),ENSG00000248745(dist=78047)	Na	Na	Na	Na	Na	Na	Het;-AC	154;2|8	Hom;-AC	319;0|9
N	N	-	4	146601680	146601680	C	T	snp	intronic	 	 	 	 	C4orf51	1700011L22Rik	ENSG00000237136	chromosome 4 open reading frame 51	chr4:146601356-146692184		Stroke	 					http://www.genecards.org/index.php?path=/Search/keyword/C4orf51				http://www.informatics.jax.org/searchtool/Search.do?query=C4orf51&submit=Quick%0D%19476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf51	rs7683750	0.246006	0	0	1	0	0	intronic	intronic	intronic	C4orf51	C4orf51	ENSG00000237136	Na	Na	Na	Na	Na	Na	Het;C>T	186;7|8	Hom;C>T	414;0|11
N	N	-	4	146617590	146617590	T	C	snp	intronic	 	 	 	 	C4orf51	1700011L22Rik	ENSG00000237136	chromosome 4 open reading frame 51	chr4:146601356-146692184		Stroke	 					http://www.genecards.org/index.php?path=/Search/keyword/C4orf51				http://www.informatics.jax.org/searchtool/Search.do?query=C4orf51&submit=Quick%0D%19476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf51	rs13104422	0.602037	0	0	1	0	0	intronic	intronic	intronic	C4orf51	C4orf51	ENSG00000237136	Na	Na	Na	Na	Na	Na	Het;T>C	76;2|3	Hom;T>C	446;0|12
N	N	-	4	146700781	146700781	A	T	snp	intronic	 	 	 	 	ZNF827	Zfp827	ENSG00000151612	zinc finger protein 827	chr4:146678779-146859787		gamma-Glutamyltransferase; Tobacco Use Disorder; Cholesterol, HDL; Celiac Disease|; Blood Pressure; Chronic renal failure|Kidney Failure, Chronic	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF827	https://www.uniprot.org/uniprot/Q17R98			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF827&submit=Quick%0D%9442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF827	rs9308196	0.263578	0	0	1	0	0	intronic	intronic	intronic	ZNF827	ZNF827	ENSG00000151612	Na	Na	Na	Na	Na	Na	Het;A>T	214;12|10	Hom;A>T	316;0|10
N	N	-	4	154709480	154709480	G	A	snp	intronic	 	 	 	 	SFRP2	Sfrp2	ENSG00000145423	secreted frizzled related protein 2	chr4:154701744-154710272	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]	Hypertrophy, Left Ventricular; colorectal cancer; Body Mass Index; asthma; Albuminuria; Electrocardiography; Apolipoproteins C; Bone Mineral Density	Mice homozygous for a null allele exhibit background-sensitive syndactyly.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0001569;branching involved in blood vessel morphogenesis;ISS|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0002063;chondrocyte development;IEA|GO:0003151;outflow tract morphogenesis;IMP|GO:0003214;cardiac left ventricle morphogenesis;IMP|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007275;multicellular organism development;IEA|GO:0007584;response to nutrient;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010629;negative regulation of gene expression;ISS|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010950;positive regulation of endopeptidase activity;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030199;collagen fibril organization;IEA|GO:0030307;positive regulation of cell growth;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;ISS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;ISS|GO:0035413;positive regulation of catenin import into nucleus;IEA|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045766;positive regulation of angiogenesis;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046546;development of primary male sexual characteristics;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0051216;cartilage development;IEA|GO:0060028;convergent extension involved in axis elongation;IEA|GO:0060349;bone morphogenesis;IEA|GO:0061056;sclerotome development;ISS|GO:0061185;negative regulation of dermatome development;ISS|GO:0071425;hematopoietic stem cell proliferation;ISS|GO:0071481;cellular response to X-ray;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;ISS|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000035;regulation of stem cell division;ISS|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000273;positive regulation of receptor activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005178;integrin binding;ISS|GO:0008047;enzyme activator activity;IEA|GO:0017147;Wnt-protein binding;NAS|GO:0048018;receptor agonist activity;ISS|GO:0061133;endopeptidase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFRP2	https://www.uniprot.org/uniprot/Q96HF1		https://www.ncbi.nlm.nih.gov/omim/?term=604157	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP2&submit=Quick%0D%8739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP2	rs3810765	0.548722	0.5384	0.5274	1	0	0	intronic	intronic	intronic	SFRP2	SFRP2	ENSG00000145423	Na	Na	Na	Na	Na	Na	Het;G>A	731;24|30	Hom;G>A	1505;0|57
N	N	-	4	154759939	154759939	G	T	snp	intergenic	 	 	 	 	SFRP2	Sfrp2	ENSG00000145423	secreted frizzled related protein 2	chr4:154701744-154710272	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]	Hypertrophy, Left Ventricular; colorectal cancer; Body Mass Index; asthma; Albuminuria; Electrocardiography; Apolipoproteins C; Bone Mineral Density	Mice homozygous for a null allele exhibit background-sensitive syndactyly.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0001569;branching involved in blood vessel morphogenesis;ISS|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0002063;chondrocyte development;IEA|GO:0003151;outflow tract morphogenesis;IMP|GO:0003214;cardiac left ventricle morphogenesis;IMP|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007275;multicellular organism development;IEA|GO:0007584;response to nutrient;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010629;negative regulation of gene expression;ISS|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010950;positive regulation of endopeptidase activity;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030199;collagen fibril organization;IEA|GO:0030307;positive regulation of cell growth;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;ISS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;ISS|GO:0035413;positive regulation of catenin import into nucleus;IEA|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045766;positive regulation of angiogenesis;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046546;development of primary male sexual characteristics;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0051216;cartilage development;IEA|GO:0060028;convergent extension involved in axis elongation;IEA|GO:0060349;bone morphogenesis;IEA|GO:0061056;sclerotome development;ISS|GO:0061185;negative regulation of dermatome development;ISS|GO:0071425;hematopoietic stem cell proliferation;ISS|GO:0071481;cellular response to X-ray;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;ISS|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000035;regulation of stem cell division;ISS|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000273;positive regulation of receptor activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005178;integrin binding;ISS|GO:0008047;enzyme activator activity;IEA|GO:0017147;Wnt-protein binding;NAS|GO:0048018;receptor agonist activity;ISS|GO:0061133;endopeptidase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFRP2	https://www.uniprot.org/uniprot/Q96HF1		https://www.ncbi.nlm.nih.gov/omim/?term=604157	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP2&submit=Quick%0D%8739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP2	rs13112926	0.414736	0	0	1	0	0	intergenic	intergenic	intergenic	SFRP2(dist=49711),DCHS2(dist=395588)	SFRP2(dist=49711),DCHS2(dist=395588)	ENSG00000145423(dist=49667),ENSG00000252181(dist=34580)	Na	Na	Na	Na	Na	Na	Het;G>T	141;10|5	Hom;G>T	717;0|16
N	N	-	4	154759949	154759949	G	T	snp	intergenic	 	 	 	 	SFRP2	Sfrp2	ENSG00000145423	secreted frizzled related protein 2	chr4:154701744-154710272	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]	Hypertrophy, Left Ventricular; colorectal cancer; Body Mass Index; asthma; Albuminuria; Electrocardiography; Apolipoproteins C; Bone Mineral Density	Mice homozygous for a null allele exhibit background-sensitive syndactyly.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0001569;branching involved in blood vessel morphogenesis;ISS|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0002063;chondrocyte development;IEA|GO:0003151;outflow tract morphogenesis;IMP|GO:0003214;cardiac left ventricle morphogenesis;IMP|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007275;multicellular organism development;IEA|GO:0007584;response to nutrient;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010629;negative regulation of gene expression;ISS|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010950;positive regulation of endopeptidase activity;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030199;collagen fibril organization;IEA|GO:0030307;positive regulation of cell growth;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;ISS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;ISS|GO:0035413;positive regulation of catenin import into nucleus;IEA|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045766;positive regulation of angiogenesis;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046546;development of primary male sexual characteristics;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0051216;cartilage development;IEA|GO:0060028;convergent extension involved in axis elongation;IEA|GO:0060349;bone morphogenesis;IEA|GO:0061056;sclerotome development;ISS|GO:0061185;negative regulation of dermatome development;ISS|GO:0071425;hematopoietic stem cell proliferation;ISS|GO:0071481;cellular response to X-ray;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;ISS|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000035;regulation of stem cell division;ISS|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000273;positive regulation of receptor activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005178;integrin binding;ISS|GO:0008047;enzyme activator activity;IEA|GO:0017147;Wnt-protein binding;NAS|GO:0048018;receptor agonist activity;ISS|GO:0061133;endopeptidase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFRP2	https://www.uniprot.org/uniprot/Q96HF1		https://www.ncbi.nlm.nih.gov/omim/?term=604157	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP2&submit=Quick%0D%8739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP2	rs13118227	0.478035	0	0	1	0	0	intergenic	intergenic	intergenic	SFRP2(dist=49721),DCHS2(dist=395578)	SFRP2(dist=49721),DCHS2(dist=395578)	ENSG00000145423(dist=49677),ENSG00000252181(dist=34570)	Na	Na	Na	Na	Na	Na	Het;G>T	154;13|6	Hom;G>T	805;0|20
N	N	-	4	154760115	154760115	G	A	snp	intergenic	 	 	 	 	SFRP2	Sfrp2	ENSG00000145423	secreted frizzled related protein 2	chr4:154701744-154710272	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]	Hypertrophy, Left Ventricular; colorectal cancer; Body Mass Index; asthma; Albuminuria; Electrocardiography; Apolipoproteins C; Bone Mineral Density	Mice homozygous for a null allele exhibit background-sensitive syndactyly.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0001569;branching involved in blood vessel morphogenesis;ISS|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0002063;chondrocyte development;IEA|GO:0003151;outflow tract morphogenesis;IMP|GO:0003214;cardiac left ventricle morphogenesis;IMP|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007275;multicellular organism development;IEA|GO:0007584;response to nutrient;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010629;negative regulation of gene expression;ISS|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010950;positive regulation of endopeptidase activity;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030199;collagen fibril organization;IEA|GO:0030307;positive regulation of cell growth;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;ISS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;ISS|GO:0035413;positive regulation of catenin import into nucleus;IEA|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045766;positive regulation of angiogenesis;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046546;development of primary male sexual characteristics;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0051216;cartilage development;IEA|GO:0060028;convergent extension involved in axis elongation;IEA|GO:0060349;bone morphogenesis;IEA|GO:0061056;sclerotome development;ISS|GO:0061185;negative regulation of dermatome development;ISS|GO:0071425;hematopoietic stem cell proliferation;ISS|GO:0071481;cellular response to X-ray;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;ISS|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000035;regulation of stem cell division;ISS|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000273;positive regulation of receptor activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;ISS	GO:0001968;fibronectin binding;ISS|GO:0005178;integrin binding;ISS|GO:0008047;enzyme activator activity;IEA|GO:0017147;Wnt-protein binding;NAS|GO:0048018;receptor agonist activity;ISS|GO:0061133;endopeptidase activator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFRP2	https://www.uniprot.org/uniprot/Q96HF1		https://www.ncbi.nlm.nih.gov/omim/?term=604157	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP2&submit=Quick%0D%8739ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP2	rs1456408	0.414537	0	0	1	0	0	intergenic	intergenic	intergenic	SFRP2(dist=49887),DCHS2(dist=395412)	SFRP2(dist=49887),DCHS2(dist=395412)	ENSG00000145423(dist=49843),ENSG00000252181(dist=34404)	Na	Na	Na	Na	Na	Na	Het;G>A	159;10|10	Hom;G>A	396;0|15
N	N	-	4	155156207	155156207	G	A	snp	synonymous SNV	C8232T	D2744D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	DCHS2	Dchs2	ENSG00000284227	dachsous cadherin-related 2	chr4:155153399-155412930		Alzheimer Disease; Lipoproteins; Erythrocytes; Lipids; Triglycerides; Fibrinogen; Blood Coagulation Factors; Multiple Sclerosis; Blood Pressure; C-Reactive Protein	 					http://www.genecards.org/index.php?path=/Search/keyword/DCHS2			https://www.ncbi.nlm.nih.gov/omim/?term=612486	http://www.informatics.jax.org/searchtool/Search.do?query=DCHS2&submit=Quick%0D%22953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCHS2	rs7655799	0.669529	0.7330	0.8317	1	0	0	exonic	exonic	exonic	DCHS2	DCHS2	ENSG00000197410	synonymous SNV	synonymous SNV	unknown	DCHS2:NM_017639:exon25:c.C8232T:p.D2744D,	DCHS2:uc003inw.2:exon25:c.C8232T:p.D2744D,	UNKNOWN	Het;G>A	1297;67|61	Hom;G>A	3927;1|143
N	N	-	4	155161666	155161666	C	T	snp	intronic	 	 	 	 	DCHS2	Dchs2	ENSG00000284227	dachsous cadherin-related 2	chr4:155153399-155412930		Alzheimer Disease; Lipoproteins; Erythrocytes; Lipids; Triglycerides; Fibrinogen; Blood Coagulation Factors; Multiple Sclerosis; Blood Pressure; C-Reactive Protein	 					http://www.genecards.org/index.php?path=/Search/keyword/DCHS2			https://www.ncbi.nlm.nih.gov/omim/?term=612486	http://www.informatics.jax.org/searchtool/Search.do?query=DCHS2&submit=Quick%0D%22953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCHS2	rs6535989	0.647764	0.7117	0.8220	1	0	0	intronic	intronic	intronic	DCHS2	DCHS2	ENSG00000197410	Na	Na	Na	Na	Na	Na	Het;C>T	208;7|9	Hom;C>T	683;0|22
N	N	-	4	155410822	155410822	G	A	snp	synonymous SNV	C1686T	S562S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DCHS2	Dchs2	ENSG00000284227	dachsous cadherin-related 2	chr4:155153399-155412930		Alzheimer Disease; Lipoproteins; Erythrocytes; Lipids; Triglycerides; Fibrinogen; Blood Coagulation Factors; Multiple Sclerosis; Blood Pressure; C-Reactive Protein	 					http://www.genecards.org/index.php?path=/Search/keyword/DCHS2			https://www.ncbi.nlm.nih.gov/omim/?term=612486	http://www.informatics.jax.org/searchtool/Search.do?query=DCHS2&submit=Quick%0D%22953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCHS2	rs4696593	0.580871	0.5247	0.5512	1	0	0	exonic	exonic	exonic	DCHS2	DCHS2	ENSG00000197410	synonymous SNV	synonymous SNV	unknown	DCHS2:NM_001142552:exon1:c.C1686T:p.S562S,	DCHS2:uc011cik.1:exon1:c.C1686T:p.S562S,DCHS2:uc003inx.2:exon1:c.C1686T:p.S562S,	UNKNOWN	Het;G>A	2755;134|135	Hom;G>A	7711;0|286
N	N	-	4	155446540	155446540	T	G	snp	downstream	 	 	 	 	AC110753.1																		rs62330386	0.486621	0	0	1	0	0	intergenic	intergenic	downstream	DCHS2(dist=33663),PLRG1(dist=9609)	DCHS2(dist=33610),PLRG1(dist=9609)	ENSG00000250609	Na	Na	Na	Na	Na	Na	Het;T>G	134;1|6	Hom;T>G	63;0|3
N	N	-	4	155508627	155508627	G	A	snp	intronic	 	 	 	 	FGA	Fga	ENSG00000171560	fibrinogen alpha chain	chr4:155504278-155511918	This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]	atherosclerosis, coronary atherosclerosis, generalized; patent foramen ovale; Cerebral Infarction; cardiovascular disease risk; plasma fibrinogen levels in smokers and non-smokers; Cerebral Hemorrhage|Stroke; Thromboembolism|Thrombosis|Venous Thrombosis; thrombosis, deep vein; myocardial infarct; thromboembolism, venous; thrombosis, deep vein; Brain Ischemia|Stroke|Vascular Diseases; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Alzheimer's disease ; Brain Ischemia|Hemorrhage; fibrinogen heart disease, ischemic tissue plasminogen activator level; atherosclerosis; Fibrinogen; Myocardial Infarction; Acute Coronary Syndrome|Coronary Artery Disease; thrombosis; fibrin fragment D; stroke, ischemic; fibrinogen Il-6 myocardial infarct; Brain Ischemia|Stroke; obesity; Myocardial Infarction|Stroke|Thrombosis; Macular Degeneration; Glomerulonephritis, IGA; angina; abnormal fibrin polymerization and thrombophilia; null; Type 2 Diabetes| edema | rosiglitazone; fibrinogen; Cardiovascular Diseases|; myocardial infarct; Hypertension; Aalpha and gamma fibrinogen plasma levels; hypertension; thromboembolism, venous; Peripheral Vascular Diseases; Venous Thrombosis; myocardial infarction; fibrinogen myocardial infarct; renal amyloidosis; post-trauma fibrinogen increase; Ischemia|Stroke; Type 2 diabetes; cerebrovascular disease; sickle cell anemia; Brain Ischemia|Cardiovascular Diseases|Carotid Artery Diseases|Myocardial Infarction|Stroke	Mice homozygous for disruptions of this gene have blood that is unable to clot.  On some genetic backgrounds this can lead to fatal hemorrhaging.	Amyloid fiber formation	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0006461;protein complex assembly;IMP|GO:0007160;cell-matrix adhesion;IDA|GO:0007165;signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0030168;platelet activation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031639;plasminogen activation;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IDA|GO:0042730;fibrinolysis;IDA|GO:0043152;induction of bacterial agglutination;IDA|GO:0043623;cellular protein complex assembly;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045907;positive regulation of vasoconstriction;IDA|GO:0045921;positive regulation of exocytosis;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0051258;protein polymerization;IDA|GO:0051592;response to calcium ion;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070527;platelet aggregation;IDA|GO:0072377;blood coagulation, common pathway;IMP|GO:0072378;blood coagulation, fibrin clot formation;IDA|GO:0090277;positive regulation of peptide hormone secretion;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;NAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA	GO:0005576;extracellular region;TAS|GO:0005577;fibrinogen complex;IDA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005938;cell cortex;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0031091;platelet alpha granule;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;IDA|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IEA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FGA		https://hpo.jax.org/app/browse/search?q=FGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134820	http://www.informatics.jax.org/searchtool/Search.do?query=FGA&submit=Quick%0D%12962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGA	rs2070018	0.889976	0.8695	0.8767	1	0	0	intronic	intronic	intronic	FGA	FGA	ENSG00000171560	Na	Na	Na	Na	Na	Na	Het;G>A	721;24|31	Hom;G>A	1387;0|48
N	N	-	4	155510224	155510224	A	T	snp	intronic	 	 	 	 	FGA	Fga	ENSG00000171560	fibrinogen alpha chain	chr4:155504278-155511918	This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]	atherosclerosis, coronary atherosclerosis, generalized; patent foramen ovale; Cerebral Infarction; cardiovascular disease risk; plasma fibrinogen levels in smokers and non-smokers; Cerebral Hemorrhage|Stroke; Thromboembolism|Thrombosis|Venous Thrombosis; thrombosis, deep vein; myocardial infarct; thromboembolism, venous; thrombosis, deep vein; Brain Ischemia|Stroke|Vascular Diseases; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Alzheimer's disease ; Brain Ischemia|Hemorrhage; fibrinogen heart disease, ischemic tissue plasminogen activator level; atherosclerosis; Fibrinogen; Myocardial Infarction; Acute Coronary Syndrome|Coronary Artery Disease; thrombosis; fibrin fragment D; stroke, ischemic; fibrinogen Il-6 myocardial infarct; Brain Ischemia|Stroke; obesity; Myocardial Infarction|Stroke|Thrombosis; Macular Degeneration; Glomerulonephritis, IGA; angina; abnormal fibrin polymerization and thrombophilia; null; Type 2 Diabetes| edema | rosiglitazone; fibrinogen; Cardiovascular Diseases|; myocardial infarct; Hypertension; Aalpha and gamma fibrinogen plasma levels; hypertension; thromboembolism, venous; Peripheral Vascular Diseases; Venous Thrombosis; myocardial infarction; fibrinogen myocardial infarct; renal amyloidosis; post-trauma fibrinogen increase; Ischemia|Stroke; Type 2 diabetes; cerebrovascular disease; sickle cell anemia; Brain Ischemia|Cardiovascular Diseases|Carotid Artery Diseases|Myocardial Infarction|Stroke	Mice homozygous for disruptions of this gene have blood that is unable to clot.  On some genetic backgrounds this can lead to fatal hemorrhaging.	Amyloid fiber formation	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0006461;protein complex assembly;IMP|GO:0007160;cell-matrix adhesion;IDA|GO:0007165;signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0030168;platelet activation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031639;plasminogen activation;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IDA|GO:0042730;fibrinolysis;IDA|GO:0043152;induction of bacterial agglutination;IDA|GO:0043623;cellular protein complex assembly;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045907;positive regulation of vasoconstriction;IDA|GO:0045921;positive regulation of exocytosis;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0051258;protein polymerization;IDA|GO:0051592;response to calcium ion;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070527;platelet aggregation;IDA|GO:0072377;blood coagulation, common pathway;IMP|GO:0072378;blood coagulation, fibrin clot formation;IDA|GO:0090277;positive regulation of peptide hormone secretion;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;NAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA	GO:0005576;extracellular region;TAS|GO:0005577;fibrinogen complex;IDA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005938;cell cortex;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0031091;platelet alpha granule;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;IDA|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IEA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FGA		https://hpo.jax.org/app/browse/search?q=FGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134820	http://www.informatics.jax.org/searchtool/Search.do?query=FGA&submit=Quick%0D%12962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGA	rs7656433	0.985423	0	0	1	0	0	intronic	intronic	intronic	FGA	FGA	ENSG00000171560	Na	Na	Na	Na	Na	Na	Het;A>T	142;4|6	Hom;A>T	127;0|4
N	N	-	4	155511897	155511897	T	C	snp	UTR5	-58A>G	 	 	 	FGA	Fga	ENSG00000171560	fibrinogen alpha chain	chr4:155504278-155511918	This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]	atherosclerosis, coronary atherosclerosis, generalized; patent foramen ovale; Cerebral Infarction; cardiovascular disease risk; plasma fibrinogen levels in smokers and non-smokers; Cerebral Hemorrhage|Stroke; Thromboembolism|Thrombosis|Venous Thrombosis; thrombosis, deep vein; myocardial infarct; thromboembolism, venous; thrombosis, deep vein; Brain Ischemia|Stroke|Vascular Diseases; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Alzheimer's disease ; Brain Ischemia|Hemorrhage; fibrinogen heart disease, ischemic tissue plasminogen activator level; atherosclerosis; Fibrinogen; Myocardial Infarction; Acute Coronary Syndrome|Coronary Artery Disease; thrombosis; fibrin fragment D; stroke, ischemic; fibrinogen Il-6 myocardial infarct; Brain Ischemia|Stroke; obesity; Myocardial Infarction|Stroke|Thrombosis; Macular Degeneration; Glomerulonephritis, IGA; angina; abnormal fibrin polymerization and thrombophilia; null; Type 2 Diabetes| edema | rosiglitazone; fibrinogen; Cardiovascular Diseases|; myocardial infarct; Hypertension; Aalpha and gamma fibrinogen plasma levels; hypertension; thromboembolism, venous; Peripheral Vascular Diseases; Venous Thrombosis; myocardial infarction; fibrinogen myocardial infarct; renal amyloidosis; post-trauma fibrinogen increase; Ischemia|Stroke; Type 2 diabetes; cerebrovascular disease; sickle cell anemia; Brain Ischemia|Cardiovascular Diseases|Carotid Artery Diseases|Myocardial Infarction|Stroke	Mice homozygous for disruptions of this gene have blood that is unable to clot.  On some genetic backgrounds this can lead to fatal hemorrhaging.	Amyloid fiber formation	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0006461;protein complex assembly;IMP|GO:0007160;cell-matrix adhesion;IDA|GO:0007165;signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0030168;platelet activation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031639;plasminogen activation;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IDA|GO:0042730;fibrinolysis;IDA|GO:0043152;induction of bacterial agglutination;IDA|GO:0043623;cellular protein complex assembly;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045907;positive regulation of vasoconstriction;IDA|GO:0045921;positive regulation of exocytosis;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0051258;protein polymerization;IDA|GO:0051592;response to calcium ion;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070527;platelet aggregation;IDA|GO:0072377;blood coagulation, common pathway;IMP|GO:0072378;blood coagulation, fibrin clot formation;IDA|GO:0090277;positive regulation of peptide hormone secretion;IDA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;NAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA	GO:0005576;extracellular region;TAS|GO:0005577;fibrinogen complex;IDA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005938;cell cortex;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0031091;platelet alpha granule;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;IDA|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IEA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FGA		https://hpo.jax.org/app/browse/search?q=FGA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134820	http://www.informatics.jax.org/searchtool/Search.do?query=FGA&submit=Quick%0D%12962ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGA	rs2070011	0.642971	0.6481	0	1	0	0	UTR5	UTR5	UTR5	FGA(NM_000508:c.-58A>G,NM_021871:c.-58A>G)	FGA(uc003iod.1:c.-58A>G,uc003ioe.1:c.-58A>G,uc003iof.1:c.-58A>G)	ENSG00000171560(ENST00000302053:c.-58A>G,ENST00000403106:c.-58A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	992;46|47	Hom;T>C	2608;0|97
N	N	-	4	155525970	155525970	G	A	snp	UTR3	*16C>T	 	 	 	FGG	Fgg	ENSG00000171557	fibrinogen gamma chain	chr4:155525286-155534119	The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]	Fibrinogen; myocardial infarction; Alzheimer's disease ; Blood Pressure Determination; Brain Ischemia|Stroke|Vascular Diseases; Hypertension; atherosclerosis; Chronic renal failure|Kidney Failure, Chronic; Venous Thrombosis; atherosclerosis, coronary atherosclerosis, generalized; null; thrombosis, deep vein; Thromboembolism|Thrombosis|Venous Thrombosis; Cerebral Hemorrhage|Stroke; Ischemia|Stroke; fibrinogen myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Macular Degeneration; cardiovascular disease risk; Peripheral Vascular Diseases; myocardial infarct; thromboembolism, venous; thrombosis, deep vein; myocardial infarct; Cardiovascular Diseases|; Brain Ischemia|Cardiovascular Diseases|Carotid Artery Diseases|Myocardial Infarction|Stroke; fibrinogen; Aalpha and gamma fibrinogen plasma levels; Alzheimer Disease; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Brain Ischemia|Ischemic Attack, Transient|Stroke; fibrinogen heart disease, ischemic tissue plasminogen activator level; fibrinogen Il-6 myocardial infarct; Myocardial Infarction; Acute Coronary Syndrome|Coronary Artery Disease	Pregnant homozygous null mice exhibit retarded embryo-placental development, spontaneous abortion,  and maternal death through excessive uterine bleeding. Mutants expressing a truncated polypeptide show reduced platelet aggregation, increased bleeding time, and occasional fatal neonatal bleeding.	Post-translational protein phosphorylation	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002576;platelet degranulation;TAS|GO:0007160;cell-matrix adhesion;IDA|GO:0007165;signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0009306;protein secretion;IMP|GO:0030168;platelet activation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031639;plasminogen activation;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IDA|GO:0036345;platelet maturation;IEA|GO:0042730;fibrinolysis;IDA|GO:0043623;cellular protein complex assembly;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045907;positive regulation of vasoconstriction;IDA|GO:0045921;positive regulation of exocytosis;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0051258;protein polymerization;IMP|GO:0051592;response to calcium ion;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070527;platelet aggregation;IDA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0072378;blood coagulation, fibrin clot formation;IDA|GO:0090277;positive regulation of peptide hormone secretion;IDA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;NAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA	GO:0005576;extracellular region;TAS|GO:0005577;fibrinogen complex;IDA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0031091;platelet alpha granule;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005102;receptor binding;IPI|GO:0005198;structural molecule activity;IDA|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FGG		https://hpo.jax.org/app/browse/search?q=FGG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134850	http://www.informatics.jax.org/searchtool/Search.do?query=FGG&submit=Quick%0D%12961ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGG	rs1049636	0.700879	0.7101	0.6772	1	0	0	UTR3	UTR3	UTR3	FGG(NM_021870:c.*16C>T)	FGG(uc003ioj.3:c.*16C>T)	ENSG00000171557(ENST00000336098:c.*16C>T,ENST00000407946:c.*16C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	403;7|19	Hom;G>A	771;0|27
N	N	-	4	155674349	155674349	T	C	snp	downstream	 	 	 	 	LRAT	Lrat	ENSG00000121207	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	chr4:155548097-155674270	The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]	Retinal Diseases; Retinitis Pigmentosa; Alzheimer's disease ; Alzheimer's disease	Mice homozygous for disruptions in this gene exhibit retinol homeostasis abnormalities and are more susceptible to vitamin A deficiency or display impaired vision associated with abnormal retinol metabolism. Males have testicular hypoplasia/atrophy and reduced mature sperm counts.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006776;vitamin A metabolic process;IEA|GO:0007601;visual perception;IEA|GO:0032370;positive regulation of lipid transport;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0050896;response to stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005771;multivesicular body;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001972;retinoic acid binding;IEA|GO:0008374;O-acyltransferase activity;IEA|GO:0016416;O-palmitoyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;TAS|GO:0019841;retinol binding;IEA|GO:0047173;phosphatidylcholine-retinol O-acyltransferase activity;TAS|GO:0102279;lecithin:11-cis retinol acyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LRAT	https://www.uniprot.org/uniprot/O95237	https://hpo.jax.org/app/browse/search?q=LRAT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604863	http://www.informatics.jax.org/searchtool/Search.do?query=LRAT&submit=Quick%0D%5293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRAT	rs201820	0.691893	0	0	1	0	0	downstream	downstream	downstream	LRAT	LRAT	ENSG00000121207	Na	Na	Na	Na	Na	Na	Het;T>C	218;3|9	Hom;T>C	398;0|14
N	N	-	4	15568992	15568992	T	C	snp	intronic	 	 	 	 	CC2D2A	Cc2d2a	ENSG00000048342	coiled-coil and C2 domain containing 2A	chr4:15471489-15603180	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	Conduct Disorder	Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate.	Anchoring of the basal body to the plasma membrane	GO:0001843;neural tube closure;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IEA|GO:0043010;camera-type eye development;IEA|GO:0044458;motile cilium assembly;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CC2D2A	https://www.uniprot.org/uniprot/Q9P2K1	https://hpo.jax.org/app/browse/search?q=CC2D2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612013	http://www.informatics.jax.org/searchtool/Search.do?query=CC2D2A&submit=Quick%0D%886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D2A	rs13121363	0.66254	0.7016	0.7122	1	0	0	intronic	intronic	intronic	CC2D2A	CC2D2A	ENSG00000048342	Na	Na	Na	Na	Na	Na	Het;T>C	1461;56|64	Hom;T>C	3144;1|113
N	N	-	4	15569146	15569146	A	C	snp	intronic	 	 	 	 	CC2D2A	Cc2d2a	ENSG00000048342	coiled-coil and C2 domain containing 2A	chr4:15471489-15603180	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	Conduct Disorder	Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate.	Anchoring of the basal body to the plasma membrane	GO:0001843;neural tube closure;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IEA|GO:0043010;camera-type eye development;IEA|GO:0044458;motile cilium assembly;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CC2D2A	https://www.uniprot.org/uniprot/Q9P2K1	https://hpo.jax.org/app/browse/search?q=CC2D2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612013	http://www.informatics.jax.org/searchtool/Search.do?query=CC2D2A&submit=Quick%0D%886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D2A	rs13116304	0.66234	0.7031	0.7113	1	0	0	intronic	intronic	intronic	CC2D2A	CC2D2A	ENSG00000048342	Na	Na	Na	Na	Na	Na	Het;A>C	1625;75|72	Hom;A>C	3581;1|132
N	N	-	4	155718171	155718171	A	ATT	indel	intronic	 	 	 	 	RBM46	Rbm46	ENSG00000151962	RNA binding motif protein 46	chr4:155702365-155749965		Diabetic Nephropathies; Apolipoprotein A-I; Cholesterol, HDL; Iron; Albuminuria	 		GO:0001829;trophectodermal cell differentiation;IEA|GO:0048255;mRNA stabilization;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM46	https://www.uniprot.org/uniprot/Q8TBY0			http://www.informatics.jax.org/searchtool/Search.do?query=RBM46&submit=Quick%0D%9493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM46	rs533910583	0.178514	0	0	1	0	0	intronic	intronic	intronic	RBM46	RBM46	ENSG00000151962	Na	Na	Na	Na	Na	Na	Het;+TT	352;3|16	Hom;+TT	725;0|24
N	N	-	4	15575718	15575718	C	G	snp	intronic	 	 	 	 	CC2D2A	Cc2d2a	ENSG00000048342	coiled-coil and C2 domain containing 2A	chr4:15471489-15603180	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	Conduct Disorder	Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate.	Anchoring of the basal body to the plasma membrane	GO:0001843;neural tube closure;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IEA|GO:0043010;camera-type eye development;IEA|GO:0044458;motile cilium assembly;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CC2D2A	https://www.uniprot.org/uniprot/Q9P2K1	https://hpo.jax.org/app/browse/search?q=CC2D2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612013	http://www.informatics.jax.org/searchtool/Search.do?query=CC2D2A&submit=Quick%0D%886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D2A	rs4280723	0.66234	0	0	1	0	0	intronic	intronic	intronic	CC2D2A	CC2D2A	ENSG00000048342	Na	Na	Na	Na	Na	Na	Het;C>G	935;32|36	Hom;C>G	1863;0|65
N	N	-	4	15603069	15603069	G	C	snp	UTR3	*21G>C	 	 	 	CC2D2A	Cc2d2a	ENSG00000048342	coiled-coil and C2 domain containing 2A	chr4:15471489-15603180	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	Conduct Disorder	Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate.	Anchoring of the basal body to the plasma membrane	GO:0001843;neural tube closure;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IEA|GO:0043010;camera-type eye development;IEA|GO:0044458;motile cilium assembly;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;ISS|GO:0036038;MKS complex;ISS|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CC2D2A	https://www.uniprot.org/uniprot/Q9P2K1	https://hpo.jax.org/app/browse/search?q=CC2D2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612013	http://www.informatics.jax.org/searchtool/Search.do?query=CC2D2A&submit=Quick%0D%886ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D2A	rs1134634	0.566893	0.5809	0.6053	1	0	0	UTR3	UTR3	UTR3	CC2D2A(NM_001080522:c.*21G>C)	CC2D2A(uc010idv.2:c.*21G>C,uc003gnx.3:c.*21G>C)	ENSG00000048342(ENST00000413206:c.*21G>C,ENST00000424120:c.*21G>C,ENST00000503292:c.*21G>C,ENST00000389652:c.*21G>C,ENST00000506643:c.*442G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1644;57|73	Hom;G>C	2834;0|95
N	N	-	4	156275326	156275326	C	T	snp	ncRNA_intronic	 	 	 	 	AC097467.3																		rs6844186	0.653754	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MAP9	MAP9	ENSG00000250910	Na	Na	Na	Na	Na	Na	Het;C>T	658;18|25	Hom;C>T	1417;0|44
N	N	-	4	156276289	156276289	C	T	snp	synonymous SNV	G1239A	V413V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MAP9	Map9	ENSG00000164114	microtubule associated protein 9	chr4:156263810-156298122	ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; Sleep; Uric Acid; Breath Tests; Cholesterol, HDL	 		GO:0000910;cytokinesis;IEA|GO:0007049;cell cycle;IEA|GO:0007088;regulation of mitotic nuclear division;IEA|GO:0051225;spindle assembly;IEA|GO:0051301;cell division;IEA|GO:0090307;mitotic spindle assembly;IEA	GO:0000235;astral microtubule;IEA|GO:0005737;cytoplasm;IEA|GO:0005818;aster;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0072686;mitotic spindle;IEA|GO:1990023;mitotic spindle midzone;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MAP9			https://www.ncbi.nlm.nih.gov/omim/?term=610070	http://www.informatics.jax.org/searchtool/Search.do?query=MAP9&submit=Quick%0D%11207ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP9	rs2341894	0.739816	0.6582	0.5998	1	0	0	exonic	exonic	exonic	MAP9	MAP9	ENSG00000164114	synonymous SNV	synonymous SNV	unknown	MAP9:NM_001039580:exon10:c.G1314A:p.V438V,	MAP9:uc011cin.2:exon10:c.G1239A:p.V413V,MAP9:uc003ios.3:exon10:c.G1314A:p.V438V,MAP9:uc003iot.1:exon10:c.G1311A:p.V437V,	UNKNOWN	Het;C>T	535;41|28	Hom;C>T	1520;0|57
N	N	-	4	156276317	156276317	A	G	snp	ncRNA_intronic	 	 	 	 	LOC102724776																		rs2880181	0.739816	0.6567	0.5908	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC102724776	MAP9	ENSG00000250910	Na	Na	Na	Na	Na	Na	Het;A>G	349;25|16	Hom;A>G	953;0|35
N	N	-	4	156276742	156276744	ACT	A	indel	ncRNA_intronic	 	 	 	 	LOC102724776																		rs34426198	0.653954	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC102724776	MAP9	ENSG00000250910	Na	Na	Na	Na	Na	Na	Het;-CT	143;6|5	Hom;-CT	426;0|11
N	N	-	4	156276788	156276788	G	T	snp	ncRNA_intronic	 	 	 	 	LOC102724776																		rs6857158	0.654153	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC102724776	MAP9	ENSG00000250910	Na	Na	Na	Na	Na	Na	Het;G>T	224;11|11	Hom;G>T	698;0|23
N	N	-	4	156276841	156276841	T	C	snp	ncRNA_intronic	 	 	 	 	LOC102724776																		rs6834126	0.654153	0.5934	0.5892	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC102724776	MAP9	ENSG00000250910	Na	Na	Na	Na	Na	Na	Het;T>C	888;47|39	Hom;T>C	3070;0|102
N	N	-	4	156283302	156283302	G	A	snp	ncRNA_intronic	 	 	 	 	AC097467.3																		rs6829123	0.653954	0.5943	0.5786	1	0	0	intronic	intronic	ncRNA_intronic	MAP9	MAP9	ENSG00000250910	Na	Na	Na	Na	Na	Na	Het;G>A	947;28|46	Hom;G>A	2081;0|80
N	N	-	4	157597	157597	C	G	snp	ncRNA_exonic	 	 	 	 	ZNF718		ENSG00000250312	zinc finger protein 718	chr4:124386-157779		prostate cancer			GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF718				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF718&submit=Quick%0D%19955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF718	rs28637238	0.425719	0	0	1	0	0	UTR3	intergenic	ncRNA_exonic	ZNF718(NM_001039127:c.*1685C>G,NM_001289931:c.*1685C>G,NM_001289930:c.*1685C>G)	ZNF718(dist=1107),NONE(dist=NONE)	ENSG00000250312	Na	Na	Na	Na	Na	Na	Het;C>G	171;11|8	Hom;C>G	822;0|31
N	N	-	4	158496893	158496893	T	C	snp	ncRNA_exonic	 	 	 	 	LOC340017																		rs9990479	0.361022	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC340017	LOC340017	ENSG00000234111	Na	Na	Na	Na	Na	Na	Het;T>C	621;31|30	Hom;T>C	1629;0|56
N	N	-	4	15851968	15851968	G	A	snp	UTR3	*1743G>A	 	 	 	CD38	Cd38	ENSG00000004468	CD38 molecule	chr4:15779898-15854853	The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]	Triglycerides; diabetes, type 2; Bone Density; lupus erythematosus; Cell Transformation, Neoplastic|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Large B-Cell, Diffuse; Leukemia, Lymphocytic, Chronic, B-Cell; Osteoporosis; autism; diabetes, type 2; diabetes, type 1; bone density; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome	Homozygous mutation of this gene has resulted in an impaired antibody response to T cell dependent antigens and disrupted glucose-dependent insulin secretion.	Nicotinate metabolism	GO:0001666;response to hypoxia;IEA|GO:0007165;signal transduction;NAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007565;female pregnancy;IEA|GO:0009725;response to hormone;IEA|GO:0019674;NAD metabolic process;TAS|GO:0030307;positive regulation of cell growth;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0032024;positive regulation of insulin secretion;IEA|GO:0032355;response to estradiol;IEA|GO:0032526;response to retinoic acid;IEA|GO:0032570;response to progesterone;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0034097;response to cytokine;IEA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045779;negative regulation of bone resorption;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0050853;B cell receptor signaling pathway;IMP|GO:0060292;long term synaptic depression;IEA|GO:0070555;response to interleukin-1;IEA|GO:0097190;apoptotic signaling pathway;TAS	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA	GO:0003953;NAD+ nucleosidase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0050135;NAD(P)+ nucleosidase activity;IEA|GO:0061809;NAD+ nucleotidase, cyclic ADP-ribose generating;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CD38	https://www.uniprot.org/uniprot/P28907		https://www.ncbi.nlm.nih.gov/omim/?term=107270	http://www.informatics.jax.org/searchtool/Search.do?query=CD38&submit=Quick%0D%317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD38	rs13137313	0.73722	0	0	1	0	0	intergenic	intergenic	UTR3	CD38(dist=1262),FGFBP1(dist=85225)	CD38(dist=1262),FGFBP1(dist=85225)	ENSG00000004468(ENST00000226279:c.*1743G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1159;41|53	Hom;G>A	2636;0|95
N	N	-	4	15896341	15896341	C	T	snp	intergenic	 	 	 	 	HPRT1P1																		rs727488	0.804113	0	0	1	0	0	intergenic	intergenic	intergenic	CD38(dist=45635),FGFBP1(dist=40852)	CD38(dist=45635),FGFBP1(dist=40852)	ENSG00000251644(dist=28778),ENSG00000137440(dist=40851)	Na	Na	Na	Na	Na	Na	Het;C>T	206;1|10	Hom;C>T	91;0|4
N	N	-	4	160629475	160629475	T	C	snp	ncRNA_intronic	 	 	 	 	LINC02233																		rs4690955	0.5	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	RAPGEF2(dist=348174),FSTL5(dist=1675569)	RAPGEF2(dist=348174),FSTL5(dist=1675569)	ENSG00000250488	Na	Na	Na	Na	Na	Na	Het;T>C	400;13|15	Hom;T>C	1165;0|37
N	N	-	4	161329461	161329461	A	G	snp	intergenic	 	 	 	 	LINC02233																		rs72960537	0.173922	0	0	1	0	0	intergenic	intergenic	intergenic	RAPGEF2(dist=1048160),FSTL5(dist=975583)	RAPGEF2(dist=1048160),FSTL5(dist=975583)	ENSG00000250488(dist=630525),ENSG00000250997(dist=113520)	Na	Na	Na	Na	Na	Na	Het;A>G	207;2|9	Hom;A>G	259;0|8
N	N	-	4	161329475	161329475	A	G	snp	intergenic	 	 	 	 	LINC02233																		rs72960538	0.174321	0	0	1	0	0	intergenic	intergenic	intergenic	RAPGEF2(dist=1048174),FSTL5(dist=975569)	RAPGEF2(dist=1048174),FSTL5(dist=975569)	ENSG00000250488(dist=630539),ENSG00000250997(dist=113506)	Na	Na	Na	Na	Na	Na	Het;A>G	120;1|5	Hom;A>G	249;0|7
N	N	-	4	161429391	161429391	A	C	snp	intergenic	 	 	 	 	LINC02233																		rs12509599	0.396366	0	0	1	0	0	intergenic	intergenic	intergenic	RAPGEF2(dist=1148090),FSTL5(dist=875653)	RAPGEF2(dist=1148090),FSTL5(dist=875653)	ENSG00000250488(dist=730455),ENSG00000250997(dist=13590)	Na	Na	Na	Na	Na	Na	Het;A>C	150;11|9	Hom;A>C	420;0|17
N	N	-	4	162697014	162697014	T	G	snp	intronic	 	 	 	 	FSTL5	Fstl5	ENSG00000168843	follistatin like 5	chr4:162305049-163085187		Neoplasms; Lipoproteins, VLDL; Echocardiography; Cholesterol, HDL; Prostatic Neoplasms; Erythrocyte Count; Body Height; Body Weight Changes; Waist Circumference; Cholesterol, LDL; Hair; Arteries; Blood Pressure; Tobacco Use Disorder; Waist-Hip Ratio	 			GO:0005576;extracellular region;IEA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FSTL5				http://www.informatics.jax.org/searchtool/Search.do?query=FSTL5&submit=Quick%0D%12357ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSTL5	rs34423160	0.2502	0.2165	0.1412	1	0	0	intronic	intronic	intronic	FSTL5	FSTL5	ENSG00000168843	Na	Na	Na	Na	Na	Na	Het;T>G	387;11|17	Hom;T>G	1904;0|63
N	N	-	4	163332671	163332671	T	C	snp	intergenic	 	 	 	 	MTHFD2P4																		rs2060670	0.713259	0	0	1	0	0	intergenic	intergenic	intergenic	FSTL5(dist=247485),MIR4454(dist=682055)	FSTL5(dist=247485),NAF1(dist=715189)	ENSG00000251253(dist=87612),ENSG00000248396(dist=110163)	Na	Na	Na	Na	Na	Na	Het;T>C	669;42|31	Hom;T>C	1818;2|65
N	N	-	4	16403960	16403960	G	A	snp	ncRNA_intronic	 	 	 	 	AC097515.1																		rs11729915	0.140375	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TAPT1-AS1(dist=144150),LDB2(dist=99197)	TAPT1-AS1(dist=144150),LDB2(dist=99205)	ENSG00000248138	Na	Na	Na	Na	Na	Na	Het;G>A	483;83|32	Hom;G>A	1444;0|56
N	N	-	4	164067105	164067105	T	A	snp	intronic	 	 	 	 	NAF1	Naf1	ENSG00000145414	nuclear assembly factor 1 ribonucleoprotein	chr4:164031225-164088073		Liver Diseases	Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and placentation while heterozygotes show no evident ribosomal pathology.		GO:0000454;snoRNA guided rRNA pseudouridine synthesis;ISS|GO:0000493;box H/ACA snoRNP assembly;ISS|GO:0001522;pseudouridine synthesis;IEA|GO:0006364;rRNA processing;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;TAS|GO:0042254;ribosome biogenesis;IEA|GO:0043489;RNA stabilization;ISS|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090669;telomerase RNA stabilization;IMP|GO:1904358;positive regulation of telomere maintenance via telomere lengthening;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP|GO:1905323;telomerase holoenzyme complex assembly;IMP	GO:0005634;nucleus;IDA|GO:0005732;small nucleolar ribonucleoprotein complex;IDA|GO:0005737;cytoplasm;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0070034;telomerase RNA binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAF1	https://www.uniprot.org/uniprot/Q96HR8			http://www.informatics.jax.org/searchtool/Search.do?query=NAF1&submit=Quick%0D%8737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAF1	rs28584666	0.230631	0	0	1	0	0	intronic	intronic	intronic	NAF1	NAF1	ENSG00000145414	Na	Na	Na	Na	Na	Na	Het;T>A	93;3|4	Hom;T>A	199;0|7
N	N	-	4	164435265	164435265	A	C	snp	nonsynonymous SNV	A194C	Q65P	polar,hydrophilic,neutral	hydrophobic,neutral	TMA16	Tma16	ENSG00000198498	translation machinery associated 16 homolog	chr4:164415594-164441691			 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMA16				http://www.informatics.jax.org/searchtool/Search.do?query=TMA16&submit=Quick%0D%16909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMA16	rs2304802	0.379992	0.4068	0.4516	0.08	1	13	exonic	exonic	exonic	TMA16	TMA16	ENSG00000198498	nonsynonymous SNV	nonsynonymous SNV	unknown	TMA16:NM_018352:exon4:c.A194C:p.Q65P,	TMA16:uc003iqq.4:exon4:c.A194C:p.Q65P,	UNKNOWN	Het;A>C	639;37|36	Hom;A>C	1721;0|70
N	N	-	4	164438523	164438523	G	A	snp	intronic	 	 	 	 	TMA16	Tma16	ENSG00000198498	translation machinery associated 16 homolog	chr4:164415594-164441691			 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMA16				http://www.informatics.jax.org/searchtool/Search.do?query=TMA16&submit=Quick%0D%16909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMA16	rs12643109	0.387181	0.4281	0	1	0	0	intronic	intronic	intronic	TMA16	TMA16	ENSG00000198498	Na	Na	Na	Na	Na	Na	Het;G>A	115;21|9	Hom;G>A	688;0|27
N	N	-	4	164438790	164438794	TACAA	T	indel	intronic	 	 	 	 	TMA16	Tma16	ENSG00000198498	translation machinery associated 16 homolog	chr4:164415594-164441691			 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMA16				http://www.informatics.jax.org/searchtool/Search.do?query=TMA16&submit=Quick%0D%16909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMA16	rs140868699	0.358027	0	0	1	0	0	intronic	intronic	intronic	TMA16	TMA16	ENSG00000198498	Na	Na	Na	Na	Na	Na	Het;-ACAA	242;5|7	Hom;-ACAA	548;0|13
N	N	-	4	164440581	164440581	T	C	snp	nonsynonymous SNV	T527C	I176T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	TMA16	Tma16	ENSG00000198498	translation machinery associated 16 homolog	chr4:164415594-164441691			 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMA16				http://www.informatics.jax.org/searchtool/Search.do?query=TMA16&submit=Quick%0D%16909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMA16	rs1561736	0.382588	0.4159	0.4533	0.08	1	13	exonic	exonic	exonic	TMA16	TMA16	ENSG00000198498	nonsynonymous SNV	nonsynonymous SNV	unknown	TMA16:NM_018352:exon7:c.T527C:p.I176T,	TMA16:uc003iqq.4:exon7:c.T527C:p.I176T,	UNKNOWN	Het;T>C	2250;103|107	Hom;T>C	5238;1|193
N	N	-	4	164440743	164440743	T	A	snp	UTR3	*77T>A	 	 	 	TMA16	Tma16	ENSG00000198498	translation machinery associated 16 homolog	chr4:164415594-164441691			 			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMA16				http://www.informatics.jax.org/searchtool/Search.do?query=TMA16&submit=Quick%0D%16909ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMA16	rs4362779	0.404153	0	0	1	0	0	UTR3	UTR3	UTR3	TMA16(NM_018352:c.*77T>A)	TMA16(uc003iqq.4:c.*77T>A)	ENSG00000198498(ENST00000509657:c.*77T>A,ENST00000358572:c.*77T>A,ENST00000513272:c.*273T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	568;14|18	Hom;T>A	862;1|29
N	N	-	4	164450318	164450321	AAAT	A	indel	intronic	 	 	 	 	MARCH1	March1	ENSG00000145416	membrane associated ring-CH-type finger 1	chr4:164445450-165305202	MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]	Monocytes; Respiratory Function Tests; Myocardial Infarction; Diabetes Mellitus, Type 2; Glucose; Albumins; Aorta; Tissue Plasminogen Activator; Glomerular Filtration Rate; Hypertrophy, Left Ventricular; Triglycerides; Hemoglobins; Tunica Media	Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology.		GO:0000209;protein polyubiquitination;IDA|GO:0002376;immune system process;IEA|GO:0002495;antigen processing and presentation of peptide antigen via MHC class II;IDA|GO:0006955;immune response;IDA|GO:0016567;protein ubiquitination;IEA	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0032588;trans-Golgi network membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0042287;MHC protein binding;IDA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MARCH1	https://www.uniprot.org/uniprot/Q8TCQ1		https://www.ncbi.nlm.nih.gov/omim/?term=613331	http://www.informatics.jax.org/searchtool/Search.do?query=MARCH1&submit=Quick%0D%8738ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARCH1	rs150105036	0.370008	0	0	1	0	0	intronic	intronic	intronic	MARCH1	MARCH1	ENSG00000145416	Na	Na	Na	Na	Na	Na	Het;-AAT	35;4|2	Hom;-AAT	98;0|3
N	N	-	4	164466824	164466824	C	T	snp	synonymous SNV	G444A	A148A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MARCH1	March1	ENSG00000145416	membrane associated ring-CH-type finger 1	chr4:164445450-165305202	MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]	Monocytes; Respiratory Function Tests; Myocardial Infarction; Diabetes Mellitus, Type 2; Glucose; Albumins; Aorta; Tissue Plasminogen Activator; Glomerular Filtration Rate; Hypertrophy, Left Ventricular; Triglycerides; Hemoglobins; Tunica Media	Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology.		GO:0000209;protein polyubiquitination;IDA|GO:0002376;immune system process;IEA|GO:0002495;antigen processing and presentation of peptide antigen via MHC class II;IDA|GO:0006955;immune response;IDA|GO:0016567;protein ubiquitination;IEA	GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0032588;trans-Golgi network membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0042287;MHC protein binding;IDA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MARCH1	https://www.uniprot.org/uniprot/Q8TCQ1		https://www.ncbi.nlm.nih.gov/omim/?term=613331	http://www.informatics.jax.org/searchtool/Search.do?query=MARCH1&submit=Quick%0D%8738ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARCH1	rs13130399	0.385982	0.4063	0.4437	1	0	0	exonic	exonic	exonic	MARCH1	MARCH1	ENSG00000145416	synonymous SNV	synonymous SNV	unknown	MARCH1:NM_017923:exon3:c.G444A:p.A148A,MARCH1:NM_001166373:exon7:c.G495A:p.A165A,	MARCH1:uc003iqr.2:exon3:c.G444A:p.A148A,MARCH1:uc003iqs.2:exon7:c.G495A:p.A165A,	UNKNOWN	Het;C>T	999;85|53	Hom;C>T	2872;0|108
N	N	-	4	165675608	165675609	TC	T	indel	ncRNA_intronic	 	 	 	 	LOC100505989																		rs150901396	0.409345	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01207	LOC100505989	ENSG00000248771	Na	Na	Na	Na	Na	Na	Het;-C	513;6|27	Hom;-C	698;2|26
N	N	-	4	165723078	165723078	T	A	snp	ncRNA_exonic	 	 	 	 	LINC01207																		rs7691368	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01207	LOC100505989	ENSG00000248771	Na	Na	Na	Na	Na	Na	Het;T>A	863;9|43	Hom;T>A	882;3|40
N	N	-	4	165800154	165800154	T	C	snp	synonymous SNV	T159C	F53F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	APELA																		rs4541465	0.591853	0	0	1	0	0	exonic	ncRNA_exonic	ncRNA_exonic	APELA	LOC100506013	ENSG00000248329	synonymous SNV	Na	Na	APELA:NM_001297550:exon2:c.T159C:p.F53F,	Na	Na	Het;T>C	1023;76|52	Hom;T>C	2156;2|77
N	N	-	4	166408782	166408782	T	G	snp	intronic	 	 	 	 	CPE	Cpe	ENSG00000109472	carboxypeptidase E	chr4:166282346-166419472	This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]	Hypertrophy, Left Ventricular; Atherosclerosis; Alcohol dependence ; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Bulimia; adiposity; Obesity, Morbid; atherosclerosis; Tobacco Use Disorder	Mice homozygous for a spontaneous or a targeted null mutation display progressive obesity, abnormal blood glucose and lipid regulation, and have reduced fertility. Aberrant prohormone processing and secretion appears to be the cause of these phenotypes.	Insulin processing	GO:0003214;cardiac left ventricle morphogenesis;IMP|GO:0006464;cellular protein modification process;NAS|GO:0006508;proteolysis;IEA|GO:0007218;neuropeptide signaling pathway;NAS|GO:0008152;metabolic process;TAS|GO:0016055;Wnt signaling pathway;IDA|GO:0030070;insulin processing;IEA|GO:0072657;protein localization to membrane;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030141;secretory granule;IBA|GO:0030658;transport vesicle membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043025;neuronal cell body;IBA|GO:0070062;extracellular exosome;IDA|GO:0097060;synaptic membrane;IBA	GO:0004180;carboxypeptidase activity;TAS|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042043;neurexin family protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CPE	https://www.uniprot.org/uniprot/P16870		https://www.ncbi.nlm.nih.gov/omim/?term=114855	http://www.informatics.jax.org/searchtool/Search.do?query=CPE&submit=Quick%0D%3853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPE	rs3822062	0.469848	0	0	1	0	0	intronic	intronic	intronic	CPE	CPE	ENSG00000109472	Na	Na	Na	Na	Na	Na	Het;T>G	416;10|18	Hom;T>G	728;0|24
N	N	-	4	166585559	166585559	C	T	snp	ncRNA_exonic	 	 	 	 	AC080079.1																		rs35715617	0.0650958	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CPE(dist=166077),LINC01179(dist=20232)	CPE(dist=166077),HV970138(dist=9180)	ENSG00000250725	Na	Na	Na	Na	Na	Na	Het;C>T	1049;59|53	Hom;C>T	2931;0|107
N	N	-	4	166606936	166606936	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01179																		rs80303176	0.0710863	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01179	HV970138(dist=12162),TLL1(dist=187474)	ENSG00000249500	Na	Na	Na	Na	Na	Na	Het;G>A	312;14|15	Hom;G>A	1249;0|44
N	N	-	4	167020324	167020324	C	T	snp	intronic	 	 	 	 	TLL1	Tll1	ENSG00000038295	tolloid like 1	chr4:166794410-167025047	This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]	Heart Failure; Blood Pressure; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Gout	Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta.	Crosslinking of collagen fibrils	GO:0001501;skeletal system development;TAS|GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLL1	https://www.uniprot.org/uniprot/O43897	https://hpo.jax.org/app/browse/search?q=TLL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606742	http://www.informatics.jax.org/searchtool/Search.do?query=TLL1&submit=Quick%0D%800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLL1	rs10018177	0.271565	0	0	1	0	0	intronic	intronic	intronic	TLL1	TLL1	ENSG00000038295	Na	Na	Na	Na	Na	Na	Het;C>T	146;4|6	Hom;C>T	289;0|9
N	N	-	4	169317284	169317284	T	TA	indel	intronic	 	 	 	 	DDX60L	 	ENSG00000181381	DEAD-box helicase 60 like	chr4:169277886-169458937	This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Nonalcoholic Fatty Liver Disease; Blood Pressure Determination	 				GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX60L			https://www.ncbi.nlm.nih.gov/omim/?term=616725	http://www.informatics.jax.org/searchtool/Search.do?query=DDX60L&submit=Quick%0D%14612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX60L	rs5863929	0.457867	0.3694	0.4133	1	0	0	intronic	intronic	intronic	DDX60L	DDX60L	ENSG00000181381	Na	Na	Na	Na	Na	Na	Het;+A	126;3|8	Hom;+A	290;0|14
N	N	-	4	169340639	169340639	C	A	snp	intronic	 	 	 	 	DDX60L	 	ENSG00000181381	DEAD-box helicase 60 like	chr4:169277886-169458937	This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Nonalcoholic Fatty Liver Disease; Blood Pressure Determination	 				GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX60L			https://www.ncbi.nlm.nih.gov/omim/?term=616725	http://www.informatics.jax.org/searchtool/Search.do?query=DDX60L&submit=Quick%0D%14612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX60L	rs1021318	0.440695	0	0	1	0	0	intronic	intronic	intronic	DDX60L	DDX60L	ENSG00000181381	Na	Na	Na	Na	Na	Na	Het;C>A	300;6|13	Hom;C>A	345;0|12
N	N	-	4	169341608	169341628	TACACATACACACACACACAC	T	indel	intronic	 	 	 	 	DDX60L	 	ENSG00000181381	DEAD-box helicase 60 like	chr4:169277886-169458937	This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Nonalcoholic Fatty Liver Disease; Blood Pressure Determination	 				GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX60L			https://www.ncbi.nlm.nih.gov/omim/?term=616725	http://www.informatics.jax.org/searchtool/Search.do?query=DDX60L&submit=Quick%0D%14612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX60L	rs141226900	0	0	0	1	0	0	intronic	intronic	intronic	DDX60L	DDX60L	ENSG00000181381	Na	Na	Na	Na	Na	Na	Het;-ACACATACACACACACACAC	146;16|7	Hom;-ACACATACACACACACACAC	1010;0|25
N	N	-	4	169341793	169341797	GAGAT	G	indel	intronic	 	 	 	 	DDX60L	 	ENSG00000181381	DEAD-box helicase 60 like	chr4:169277886-169458937	This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Nonalcoholic Fatty Liver Disease; Blood Pressure Determination	 				GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX60L			https://www.ncbi.nlm.nih.gov/omim/?term=616725	http://www.informatics.jax.org/searchtool/Search.do?query=DDX60L&submit=Quick%0D%14612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX60L	rs150683591	0	0	0	1	0	0	intronic	intronic	intronic	DDX60L	DDX60L	ENSG00000181381	Na	Na	Na	Na	Na	Na	Het;-AGAT	419;16|12	Hom;-AGAT	1236;0|31
N	N	-	4	169341833	169341833	T	C	snp	intronic	 	 	 	 	DDX60L	 	ENSG00000181381	DEAD-box helicase 60 like	chr4:169277886-169458937	This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Nonalcoholic Fatty Liver Disease; Blood Pressure Determination	 				GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX60L			https://www.ncbi.nlm.nih.gov/omim/?term=616725	http://www.informatics.jax.org/searchtool/Search.do?query=DDX60L&submit=Quick%0D%14612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX60L	rs7439209	0	0	0	1	0	0	intronic	intronic	intronic	DDX60L	DDX60L	ENSG00000181381	Na	Na	Na	Na	Na	Na	Het;T>C	552;15|18	Hom;T>C	911;5|39
N	N	-	4	169683088	169683088	G	A	snp	intronic	 	 	 	 	PALLD	Palld	ENSG00000129116	palladin, cytoskeletal associated protein	chr4:169418217-169849608	This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Insulin; Tobacco Use Disorder; Pancreatic Neoplasms; Hematocrit; pancreatic cancer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; metabolic syndrome; Hemoglobins; Cholesterol; Blood Proteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; myocardial infarction; Type 2 Diabetes| edema | rosiglitazone; Angiography; response to iloperidone treatment (QT prolongation); Coronary Disease|Coronary heart disease; Glucose; Stroke; Cholesterol, HDL; Isoxazoles; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Myocardial Infarction; Iron; Body Height	All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.		GO:0003334;keratinocyte development;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0016477;cell migration;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0001726;ruffle;IEA|GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051371;muscle alpha-actinin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PALLD	https://www.uniprot.org/uniprot/Q8WX93	https://hpo.jax.org/app/browse/search?q=PALLD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608092	http://www.informatics.jax.org/searchtool/Search.do?query=PALLD&submit=Quick%0D%6215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PALLD	rs7680643	0.339657	0	0	1	0	0	intronic	intronic	intronic	PALLD	PALLD	ENSG00000129116	Na	Na	Na	Na	Na	Na	Het;G>A	317;19|17	Hom;G>A	1056;0|41
N	N	-	4	169799448	169799448	A	G	snp	nonsynonymous SNV	A406G	S136G	polar,hydrophilic,neutral	aliphatic,neutral	PALLD	Palld	ENSG00000129116	palladin, cytoskeletal associated protein	chr4:169418217-169849608	This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Insulin; Tobacco Use Disorder; Pancreatic Neoplasms; Hematocrit; pancreatic cancer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; metabolic syndrome; Hemoglobins; Cholesterol; Blood Proteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; myocardial infarction; Type 2 Diabetes| edema | rosiglitazone; Angiography; response to iloperidone treatment (QT prolongation); Coronary Disease|Coronary heart disease; Glucose; Stroke; Cholesterol, HDL; Isoxazoles; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Myocardial Infarction; Iron; Body Height	All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.		GO:0003334;keratinocyte development;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0016477;cell migration;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0001726;ruffle;IEA|GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051371;muscle alpha-actinin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PALLD	https://www.uniprot.org/uniprot/Q8WX93	https://hpo.jax.org/app/browse/search?q=PALLD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608092	http://www.informatics.jax.org/searchtool/Search.do?query=PALLD&submit=Quick%0D%6215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PALLD	rs62333013	0.478634	0	0.6464	0.18	2	11	exonic	exonic	exonic	PALLD	PALLD	ENSG00000129116	nonsynonymous SNV	nonsynonymous SNV	unknown	PALLD:NM_001166110:exon2:c.A406G:p.S136G,	PALLD:uc003irw.3:exon2:c.A406G:p.S136G,	UNKNOWN	Het;A>G	291;28|18	Hom;A>G	1067;0|42
N	N	-	4	1698183	1698183	C	T	snp	intronic	 	 	 	 	SLBP	Slbp	ENSG00000163950	stem-loop binding protein	chr4:1694527-1714282	This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008]		 	SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs	GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006398;mRNA 3'-end processing by stem-loop binding and cleavage;ISS|GO:0006406;mRNA export from nucleus;TAS|GO:0008334;histone mRNA metabolic process;TAS|GO:0033260;nuclear DNA replication;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0051028;mRNA transport;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;TAS|GO:0071204;histone pre-mRNA 3'end processing complex;ISS	GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0005515;protein binding;IPI|GO:0071207;histone pre-mRNA stem-loop binding;ISS|GO:0071208;histone pre-mRNA DCP binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLBP			https://www.ncbi.nlm.nih.gov/omim/?term=602422	http://www.informatics.jax.org/searchtool/Search.do?query=SLBP&submit=Quick%0D%11144ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLBP	rs798719	0.738219	0	0	1	0	0	intronic	intronic	intronic	SLBP	SLBP	ENSG00000163950	Na	Na	Na	Na	Na	Na	Het;C>T	350;9|14	Hom;C>T	320;1|14
N	N	-	4	169842976	169842976	T	C	snp	intronic	 	 	 	 	PALLD	Palld	ENSG00000129116	palladin, cytoskeletal associated protein	chr4:169418217-169849608	This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Insulin; Tobacco Use Disorder; Pancreatic Neoplasms; Hematocrit; pancreatic cancer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; metabolic syndrome; Hemoglobins; Cholesterol; Blood Proteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; myocardial infarction; Type 2 Diabetes| edema | rosiglitazone; Angiography; response to iloperidone treatment (QT prolongation); Coronary Disease|Coronary heart disease; Glucose; Stroke; Cholesterol, HDL; Isoxazoles; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Myocardial Infarction; Iron; Body Height	All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.		GO:0003334;keratinocyte development;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0016477;cell migration;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0001726;ruffle;IEA|GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051371;muscle alpha-actinin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PALLD	https://www.uniprot.org/uniprot/Q8WX93	https://hpo.jax.org/app/browse/search?q=PALLD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608092	http://www.informatics.jax.org/searchtool/Search.do?query=PALLD&submit=Quick%0D%6215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PALLD	rs17615157	0.56889	0	0	1	0	0	intronic	intronic	intronic	PALLD	PALLD	ENSG00000129116,ENSG00000145439	Na	Na	Na	Na	Na	Na	Het;T>C	330;14|13	Hom;T>C	795;0|23
N	N	-	4	169849389	169849389	C	G	snp	UTR3	*1853C>G	 	 	 	PALLD	Palld	ENSG00000129116	palladin, cytoskeletal associated protein	chr4:169418217-169849608	This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Insulin; Tobacco Use Disorder; Pancreatic Neoplasms; Hematocrit; pancreatic cancer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; metabolic syndrome; Hemoglobins; Cholesterol; Blood Proteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; myocardial infarction; Type 2 Diabetes| edema | rosiglitazone; Angiography; response to iloperidone treatment (QT prolongation); Coronary Disease|Coronary heart disease; Glucose; Stroke; Cholesterol, HDL; Isoxazoles; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Myocardial Infarction; Iron; Body Height	All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.		GO:0003334;keratinocyte development;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0016477;cell migration;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0001726;ruffle;IEA|GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051371;muscle alpha-actinin binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PALLD	https://www.uniprot.org/uniprot/Q8WX93	https://hpo.jax.org/app/browse/search?q=PALLD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608092	http://www.informatics.jax.org/searchtool/Search.do?query=PALLD&submit=Quick%0D%6215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PALLD	rs1071738	0.568091	0	0	1	0	0	UTR3	UTR3	UTR3	PALLD(NM_001166108:c.*2058C>G,NM_016081:c.*2058C>G,NM_001166109:c.*1853C>G,NM_001166110:c.*1853C>G)	PALLD(uc011cjx.2:c.*2058C>G,uc003iru.3:c.*2058C>G,uc003irv.3:c.*1853C>G,uc003irw.3:c.*1853C>G,uc003irx.3:c.*1853C>G)	ENSG00000129116(ENST00000335742:c.*1853C>G,ENST00000261509:c.*2058C>G,ENST00000507735:c.*1853C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	915;57|44	Hom;C>G	2060;0|71
N	N	-	4	169931274	169931274	G	A	snp	UTR5	-34C>T	 	 	 	CBR4	Cbr4	ENSG00000145439	carbonyl reductase 4	chr4:169784921-169931426		Body Height; Myocardial Infarction; Acquired Immunodeficiency Syndrome|Disease Progression	 	Fatty acyl-CoA biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0044597;daunorubicin metabolic process;IMP|GO:0044598;doxorubicin metabolic process;IMP|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0051289;protein homotetramerization;IPI|GO:0051290;protein heterotetramerization;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:1990204;oxidoreductase complex;IMP	GO:0003955;NAD(P)H dehydrogenase (quinone) activity;IDA|GO:0005515;protein binding;IPI|GO:0008753;NADPH dehydrogenase (quinone) activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0047025;3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity;IMP|GO:0048038;quinone binding;IDA|GO:0070402;NADPH binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CBR4	https://www.uniprot.org/uniprot/Q8N4T8			http://www.informatics.jax.org/searchtool/Search.do?query=CBR4&submit=Quick%0D%8743ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR4	rs2279038	0.588059	0.5058	0.6484	1	0	0	UTR5	UTR5	UTR5	CBR4(NM_032783:c.-34C>T)	CBR4(uc003iry.3:c.-34C>T,uc003irz.2:c.-34C>T)	ENSG00000145439(ENST00000510042:c.-34C>T,ENST00000306193:c.-34C>T,ENST00000504480:c.-34C>T,ENST00000506808:c.-34C>T,ENST00000507752:c.-34C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	482;22|24	Hom;G>A	1191;0|26
N	N	-	4	16998881	16998881	A	G	snp	ncRNA_intronic	 	 	 	 	AC106894.1																		rs57472180	0.392372	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LDB2(dist=98449),LOC101929123(dist=174499)	LDB2(dist=98457),BC029598(dist=174499)	ENSG00000249998	Na	Na	Na	Na	Na	Na	Het;A>G	485;8|20	Hom;A>G	729;0|26
N	N	-	4	170077459	170077460	AT	A	indel	intronic	 	 	 	 	SH3RF1	Sh3rf1	ENSG00000154447	SH3 domain containing ring finger 1	chr4:170015407-170192256	This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Cholesterol, HDL; Insulin	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006915;apoptotic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0046328;regulation of JNK cascade;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH3RF1	https://www.uniprot.org/uniprot/Q7Z6J0			http://www.informatics.jax.org/searchtool/Search.do?query=SH3RF1&submit=Quick%0D%9770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3RF1	rs35455310	0.271565	0	0	1	0	0	intronic	intronic	intronic	SH3RF1	SH3RF1	ENSG00000154447	Na	Na	Na	Na	Na	Na	Het;-T	53;1|4	Hom;-T	67;0|4
N	N	-	4	170428352	170428352	G	T	snp	intronic	 	 	 	 	NEK1	Nek1	ENSG00000137601	NIMA related kinase 1	chr4:170314426-170533780	The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	longevity	Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.		GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030030;cell projection organization;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP	GO:0000242;pericentriolar material;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK1	https://www.uniprot.org/uniprot/Q96PY6	https://hpo.jax.org/app/browse/search?q=NEK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604588	http://www.informatics.jax.org/searchtool/Search.do?query=NEK1&submit=Quick%0D%7568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK1	rs11335570	0.970847	0	0	1	0	0	intronic	intronic	intronic	NEK1	NEK1	ENSG00000137601	Na	Na	Na	Na	Na	Na	Het;G>T	188;5|11	Hom;G>T	454;3|19
N	N	-	4	170628524	170628524	A	G	snp	intronic	 	 	 	 	CLCN3	Clcn3	ENSG00000109572	chloride voltage-gated channel 3	chr4:170533784-170644824	This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]	Hip; Cholesterol, HDL	Nullizygous mutations cause degeneration of hippocampal neurons and retinal photoreceptors, reduced body weight, behavioral deficits, gliosis, kyphosis  and premature death, and may alter male fertility, ileum morphology, liver physiology, seizure susceptibility, and behavioral response to drugs.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006885;regulation of pH;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0044070;regulation of anion transport;IEA|GO:0045794;negative regulation of cell volume;IMP|GO:0048388;endosomal lumen acidification;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IDA|GO:1903959;regulation of anion transmembrane transport;IEA	GO:0000139;Golgi membrane;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0008021;synaptic vesicle;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;NAS|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;IDA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0042581;specific granule;IDA|GO:0045335;phagocytic vesicle;IDA	GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA|GO:0030165;PDZ domain binding;IDA|GO:0042803;protein homodimerization activity;NAS|GO:0046982;protein heterodimerization activity;IDA|GO:0072320;volume-sensitive chloride channel activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CLCN3	https://www.uniprot.org/uniprot/P51790		https://www.ncbi.nlm.nih.gov/omim/?term=600580	http://www.informatics.jax.org/searchtool/Search.do?query=CLCN3&submit=Quick%0D%3860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN3	rs9996636	0.444688	0	0	1	0	0	intronic	intronic	intronic	CLCN3	CLCN3	ENSG00000109572	Na	Na	Na	Na	Na	Na	Het;A>G	101;5|4	Hom;A>G	255;0|8
N	N	-	4	171351906	171351906	C	A	snp	intergenic	 	 	 	 	AC068945.1																		rs72986802	0.10643	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928223(dist=147033),LOC100506122(dist=609847)	AADAT(dist=340534),LOC100506122(dist=609847)	ENSG00000251061(dist=58444),ENSG00000250082(dist=50940)	Na	Na	Na	Na	Na	Na	Het;C>A	165;7|8	Hom;C>A	388;0|16
N	N	-	4	171404906	171404906	T	C	snp	intergenic	 	 	 	 	AC074255.1																		rs1528943	0.497404	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928223(dist=200033),LOC100506122(dist=556847)	AADAT(dist=393534),LOC100506122(dist=556847)	ENSG00000250082(dist=1560),ENSG00000181359(dist=97715)	Na	Na	Na	Na	Na	Na	Het;T>C	665;45|33	Hom;T>C	1555;0|56
N	N	-	4	171977372	171977372	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100506122																		rs28706078	0.499002	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506122	LOC100506122	ENSG00000248872	Na	Na	Na	Na	Na	Na	Het;A>G	911;73|47	Hom;A>G	3057;0|106
N	N	-	4	171978971	171978971	A	G	snp	ncRNA_exonic	 	 	 	 	LINC02431																		rs12651692	0.501398	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC100506122	LOC100506122	ENSG00000248872	Na	Na	Na	Na	Na	Na	Het;A>G	235;12|9	Hom;A>G	629;0|18
N	N	-	4	171980342	171980342	A	G	snp	downstream	 	 	 	 	LINC02431																		rs951632	0.516573	0	0	1	0	0	downstream	downstream	downstream	LOC100506122	LOC100506122	ENSG00000248872	Na	Na	Na	Na	Na	Na	Het;A>G	193;19|9	Hom;A>G	837;0|29
N	N	-	4	1725651	1725651	T	C	snp	intronic	 	 	 	 	TACC3	Tacc3	ENSG00000013810	transforming acidic coiled-coil containing protein 3	chr4:1723227-1746898	This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]	Chronic renal failure|Kidney Failure, Chronic; Urinary Bladder Neoplasms; bladder cancer; breast cancer	Nullizygous mutations cause embryonic growth delay and prenatal death. Homozygotes for a null allele show hematopoietic deficiencies and severe facial clefts. Homozygotes for a hypomorphic allele die neonatally with malformed axial skeletons due to failed mitosis in mesenchymal sclerotome cells.		GO:0007049;cell cycle;IEA|GO:0007091;metaphase/anaphase transition of mitotic cell cycle;IMP|GO:0008283;cell proliferation;IBA|GO:0021987;cerebral cortex development;IBA|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1902850;microtubule cytoskeleton organization involved in mitosis;IMP	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TACC3	https://www.uniprot.org/uniprot/Q9Y6A5		https://www.ncbi.nlm.nih.gov/omim/?term=605303	http://www.informatics.jax.org/searchtool/Search.do?query=TACC3&submit=Quick%0D%604ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TACC3	rs3099555	0.700479	0	0	1	0	0	intronic	intronic	intronic	TACC3	TACC3	ENSG00000013810	Na	Na	Na	Na	Na	Na	Het;T>C	761;54|35	Hom;T>C	3249;0|109
N	N	-	4	1737404	1737404	C	CCT	indel	intronic	 	 	 	 	TACC3	Tacc3	ENSG00000013810	transforming acidic coiled-coil containing protein 3	chr4:1723227-1746898	This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]	Chronic renal failure|Kidney Failure, Chronic; Urinary Bladder Neoplasms; bladder cancer; breast cancer	Nullizygous mutations cause embryonic growth delay and prenatal death. Homozygotes for a null allele show hematopoietic deficiencies and severe facial clefts. Homozygotes for a hypomorphic allele die neonatally with malformed axial skeletons due to failed mitosis in mesenchymal sclerotome cells.		GO:0007049;cell cycle;IEA|GO:0007091;metaphase/anaphase transition of mitotic cell cycle;IMP|GO:0008283;cell proliferation;IBA|GO:0021987;cerebral cortex development;IBA|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1902850;microtubule cytoskeleton organization involved in mitosis;IMP	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TACC3	https://www.uniprot.org/uniprot/Q9Y6A5		https://www.ncbi.nlm.nih.gov/omim/?term=605303	http://www.informatics.jax.org/searchtool/Search.do?query=TACC3&submit=Quick%0D%604ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TACC3	rs34859791	0.700479	0	0	1	0	0	intronic	intronic	intronic	TACC3	TACC3	ENSG00000013810	Na	Na	Na	Na	Na	Na	Het;+CT	920;23|25	Hom;+CT	2115;0|50
N	N	-	4	1737585	1737585	T	C	snp	intronic	 	 	 	 	TACC3	Tacc3	ENSG00000013810	transforming acidic coiled-coil containing protein 3	chr4:1723227-1746898	This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]	Chronic renal failure|Kidney Failure, Chronic; Urinary Bladder Neoplasms; bladder cancer; breast cancer	Nullizygous mutations cause embryonic growth delay and prenatal death. Homozygotes for a null allele show hematopoietic deficiencies and severe facial clefts. Homozygotes for a hypomorphic allele die neonatally with malformed axial skeletons due to failed mitosis in mesenchymal sclerotome cells.		GO:0007049;cell cycle;IEA|GO:0007091;metaphase/anaphase transition of mitotic cell cycle;IMP|GO:0008283;cell proliferation;IBA|GO:0021987;cerebral cortex development;IBA|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1902850;microtubule cytoskeleton organization involved in mitosis;IMP	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IBA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TACC3	https://www.uniprot.org/uniprot/Q9Y6A5		https://www.ncbi.nlm.nih.gov/omim/?term=605303	http://www.informatics.jax.org/searchtool/Search.do?query=TACC3&submit=Quick%0D%604ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TACC3	rs11729657	0.700679	0.7147	0.7650	1	0	0	intronic	intronic	intronic	TACC3	TACC3	ENSG00000013810	Na	Na	Na	Na	Na	Na	Het;T>C	1294;96|66	Hom;T>C	3717;2|137
N	N	-	4	174007048	174007048	G	A	snp	intergenic	 	 	 	 	GALNTL6	Galntl6	ENSG00000174473	polypeptide N-acetylgalactosaminyltransferase like 6	chr4:172733405-173962710		Blood Pressure; Glucose; Forced Vital Capacity; Phosphorus; Tobacco Use Disorder; Hip; Inflammatory Bowel Diseases; Erythrocytes; Body Mass Index; Body Weight; Body Fat Distribution; Insulin Resistance; Triglycerides; Fibrinogen; Erythrocyte Indices	 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNTL6			https://www.ncbi.nlm.nih.gov/omim/?term=615138	http://www.informatics.jax.org/searchtool/Search.do?query=GALNTL6&submit=Quick%0D%13529ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNTL6	rs10018524	0.336462	0	0	1	0	0	intergenic	intergenic	intergenic	GALNTL6(dist=45490),GALNT7(dist=82856)	GALNTL6(dist=45490),BC040577(dist=46036)	ENSG00000174473(dist=44338),ENSG00000245213(dist=46031)	Na	Na	Na	Na	Na	Na	Het;G>A	272;9|11	Hom;G>A	325;0|12
N	N	-	4	174053361	174053361	A	C	snp	ncRNA_exonic	 	 	 	 	AC105285.1																		rs4356895	0.300319	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	GALNTL6(dist=91803),GALNT7(dist=36543)	BC040577	ENSG00000245213	Na	Na	Na	Na	Na	Na	Het;A>C	1837;58|77	Hom;A>C	3569;1|127
N	N	-	4	174459823	174459823	T	C	snp	ncRNA_exonic	 	 	 	 	HAND2-AS1																		rs744724	0.300719	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	HAND2-AS1	NBLA00301	ENSG00000237125	Na	Na	Na	Na	Na	Na	Het;T>C	740;66|40	Hom;T>C	2312;0|81
N	N	-	4	174660848	174660848	T	C	snp	intergenic	 	 	 	 	RANP6																		rs4580631	0.770966	0	0	1	0	0	intergenic	intergenic	intergenic	HAND2-AS1(dist=197867),LOC101928509(dist=354963)	NBLA00301(dist=153969),AK125257(dist=354963)	ENSG00000213370(dist=105326),ENSG00000250043(dist=137774)	Na	Na	Na	Na	Na	Na	Het;T>C	268;19|11	Hom;T>C	1384;0|46
N	N	-	4	174675518	174675518	G	A	snp	intergenic	 	 	 	 	RANP6																		rs6853106	0	0	0	1	0	0	intergenic	intergenic	intergenic	HAND2-AS1(dist=212537),LOC101928509(dist=340293)	NBLA00301(dist=168639),AK125257(dist=340293)	ENSG00000213370(dist=119996),ENSG00000250043(dist=123104)	Na	Na	Na	Na	Na	Na	Het;G>A	92;2|3	Hom;G>A	146;0|5
N	N	-	4	17488132	17488132	A	G	snp	UTR3	*622T>C	 	 	 	QDPR	Qdpr	ENSG00000151552	quinoid dihydropteridine reductase	chr4:17461884-17513857	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]	Autism; Bulimia; Tobacco Use Disorder; Alcoholism; Dystonic Disorders; Bipolar Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver.	Phenylalanine and tyrosine catabolism	GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010288;response to lead ion;IEA|GO:0033762;response to glucagon;IEA|GO:0035690;cellular response to drug;IEA|GO:0051066;dihydrobiopterin metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0004155;6,7-dihydropteridine reductase activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070402;NADPH binding;IEA|GO:0070404;NADH binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/QDPR	https://www.uniprot.org/uniprot/P09417	https://hpo.jax.org/app/browse/search?q=QDPR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612676	http://www.informatics.jax.org/searchtool/Search.do?query=QDPR&submit=Quick%0D%9435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QDPR	rs10604	0.232428	0	0	1	0	0	UTR3	UTR3	UTR3	QDPR(NM_000320:c.*622T>C)	QDPR(uc003gpd.3:c.*622T>C,uc003gpe.3:c.*622T>C)	ENSG00000151552(ENST00000281243:c.*622T>C,ENST00000507439:c.*789T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	467;10|19	Hom;A>G	801;0|26
N	N	-	4	17488507	17488508	GC	G	indel	UTR3	*247_*246delinsC	 	 	 	QDPR	Qdpr	ENSG00000151552	quinoid dihydropteridine reductase	chr4:17461884-17513857	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]	Autism; Bulimia; Tobacco Use Disorder; Alcoholism; Dystonic Disorders; Bipolar Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver.	Phenylalanine and tyrosine catabolism	GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010288;response to lead ion;IEA|GO:0033762;response to glucagon;IEA|GO:0035690;cellular response to drug;IEA|GO:0051066;dihydrobiopterin metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0004155;6,7-dihydropteridine reductase activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070402;NADPH binding;IEA|GO:0070404;NADH binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/QDPR	https://www.uniprot.org/uniprot/P09417	https://hpo.jax.org/app/browse/search?q=QDPR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612676	http://www.informatics.jax.org/searchtool/Search.do?query=QDPR&submit=Quick%0D%9435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QDPR	rs71810044	0.1877	0	0	1	0	0	UTR3	UTR3	UTR3	QDPR(NM_000320:c.*247_*246delinsC)	QDPR(uc003gpd.3:c.*247_*246delinsC,uc003gpe.3:c.*247_*246delinsC)	ENSG00000151552(ENST00000281243:c.*247_*246delinsC,ENST00000507439:c.*414_*413delinsC,ENST00000428702:c.*247_*246delinsC)	Na	Na	Na	Na	Na	Na	Het;-C	937;35|33	Hom;-C	2316;0|66
N	N	-	4	17489003	17489003	T	C	snp	intronic	 	 	 	 	QDPR	Qdpr	ENSG00000151552	quinoid dihydropteridine reductase	chr4:17461884-17513857	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]	Autism; Bulimia; Tobacco Use Disorder; Alcoholism; Dystonic Disorders; Bipolar Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver.	Phenylalanine and tyrosine catabolism	GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010288;response to lead ion;IEA|GO:0033762;response to glucagon;IEA|GO:0035690;cellular response to drug;IEA|GO:0051066;dihydrobiopterin metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0004155;6,7-dihydropteridine reductase activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070402;NADPH binding;IEA|GO:0070404;NADH binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/QDPR	https://www.uniprot.org/uniprot/P09417	https://hpo.jax.org/app/browse/search?q=QDPR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612676	http://www.informatics.jax.org/searchtool/Search.do?query=QDPR&submit=Quick%0D%9435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QDPR	rs2597767	0.187899	0	0	1	0	0	intronic	intronic	intronic	QDPR	QDPR	ENSG00000151552	Na	Na	Na	Na	Na	Na	Het;T>C	268;12|13	Hom;T>C	867;0|33
N	N	-	4	17503382	17503382	C	T	snp	synonymous SNV	G303A	L101L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	QDPR	Qdpr	ENSG00000151552	quinoid dihydropteridine reductase	chr4:17461884-17513857	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]	Autism; Bulimia; Tobacco Use Disorder; Alcoholism; Dystonic Disorders; Bipolar Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver.	Phenylalanine and tyrosine catabolism	GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010288;response to lead ion;IEA|GO:0033762;response to glucagon;IEA|GO:0035690;cellular response to drug;IEA|GO:0051066;dihydrobiopterin metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0004155;6,7-dihydropteridine reductase activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070402;NADPH binding;IEA|GO:0070404;NADH binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/QDPR	https://www.uniprot.org/uniprot/P09417	https://hpo.jax.org/app/browse/search?q=QDPR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612676	http://www.informatics.jax.org/searchtool/Search.do?query=QDPR&submit=Quick%0D%9435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QDPR	rs2597775	0.232428	0.2987	0.2879	1	0	0	exonic	exonic	exonic	QDPR	QDPR	ENSG00000151552	synonymous SNV	synonymous SNV	unknown	QDPR:NM_000320:exon4:c.G396A:p.L132L,	QDPR:uc003gpe.3:exon3:c.G303A:p.L101L,QDPR:uc003gpd.3:exon4:c.G396A:p.L132L,	UNKNOWN	Het;C>T	583;27|28	Hom;C>T	1453;0|54
N	N	-	4	17503544	17503544	C	T	snp	intronic	 	 	 	 	QDPR	Qdpr	ENSG00000151552	quinoid dihydropteridine reductase	chr4:17461884-17513857	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]	Autism; Bulimia; Tobacco Use Disorder; Alcoholism; Dystonic Disorders; Bipolar Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver.	Phenylalanine and tyrosine catabolism	GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010288;response to lead ion;IEA|GO:0033762;response to glucagon;IEA|GO:0035690;cellular response to drug;IEA|GO:0051066;dihydrobiopterin metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0004155;6,7-dihydropteridine reductase activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070402;NADPH binding;IEA|GO:0070404;NADH binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/QDPR	https://www.uniprot.org/uniprot/P09417	https://hpo.jax.org/app/browse/search?q=QDPR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612676	http://www.informatics.jax.org/searchtool/Search.do?query=QDPR&submit=Quick%0D%9435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QDPR	rs2597776	0.1875	0	0	1	0	0	intronic	intronic	intronic	QDPR	QDPR	ENSG00000151552	Na	Na	Na	Na	Na	Na	Het;C>T	283;20|14	Hom;C>T	760;0|29
N	N	-	4	17513458	17513458	A	G	snp	intronic	 	 	 	 	QDPR	Qdpr	ENSG00000151552	quinoid dihydropteridine reductase	chr4:17461884-17513857	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]	Autism; Bulimia; Tobacco Use Disorder; Alcoholism; Dystonic Disorders; Bipolar Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver.	Phenylalanine and tyrosine catabolism	GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010288;response to lead ion;IEA|GO:0033762;response to glucagon;IEA|GO:0035690;cellular response to drug;IEA|GO:0051066;dihydrobiopterin metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0004155;6,7-dihydropteridine reductase activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070402;NADPH binding;IEA|GO:0070404;NADH binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/QDPR	https://www.uniprot.org/uniprot/P09417	https://hpo.jax.org/app/browse/search?q=QDPR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612676	http://www.informatics.jax.org/searchtool/Search.do?query=QDPR&submit=Quick%0D%9435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QDPR	rs2244804	0.381989	0	0	1	0	0	intronic	intronic	intronic	QDPR	QDPR	ENSG00000151552	Na	Na	Na	Na	Na	Na	Het;A>G	50;1|3	Hom;A>G	332;0|10
N	N	-	4	175443156	175443156	C	T	snp	synonymous SNV	G156A	Q52Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HPGD	Hpgd	ENSG00000164120	hydroxyprostaglandin dehydrogenase 15-(NAD)	chr4:175411328-175444305	This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]	lung cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Amyotrophic Lateral Sclerosis|; colorectal cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Adenoma|Colorectal Neoplasms; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Body Fat Distribution; Alzheimer's disease ; Blood Pressure Determination	Homozygous mutation of this gene results failure of the ductus arteriosus to close and perinatal lethality. Mutant animals die within 12-48 hours after birth due to congestive heart failure.  Mice homozygous for a hypomorphic allele exhibit preterm labor.	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	GO:0001822;kidney development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007565;female pregnancy;IDA|GO:0007567;parturition;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0030728;ovulation;ISS|GO:0032355;response to estradiol;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045471;response to ethanol;IEA|GO:0045786;negative regulation of cell cycle;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070493;thrombin-activated receptor signaling pathway;IEA|GO:0097070;ductus arteriosus closure;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA|GO:2001300;lipoxin metabolic process;TAS	GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016323;basolateral plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IDA|GO:0004957;prostaglandin E receptor activity;IDA|GO:0016404;15-hydroxyprostaglandin dehydrogenase (NAD+) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;TAS|GO:0051287;NAD binding;IDA|GO:0070403;NAD+ binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPGD		https://hpo.jax.org/app/browse/search?q=HPGD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601688	http://www.informatics.jax.org/searchtool/Search.do?query=HPGD&submit=Quick%0D%11211ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPGD	rs1050145	0.339257	0.3757	0.3862	1	0	0	exonic	exonic	exonic	HPGD	HPGD	ENSG00000164120	synonymous SNV	synonymous SNV	unknown	HPGD:NM_001256305:exon2:c.G156A:p.Q52Q,HPGD:NM_001256306:exon2:c.G156A:p.Q52Q,HPGD:NM_001145816:exon2:c.G156A:p.Q52Q,HPGD:NM_000860:exon2:c.G156A:p.Q52Q,	HPGD:uc011ckg.2:exon2:c.G156A:p.Q52Q,HPGD:uc010irq.3:exon2:c.G156A:p.Q52Q,HPGD:uc003itu.3:exon2:c.G156A:p.Q52Q,HPGD:uc003itv.3:exon2:c.G156A:p.Q52Q,	UNKNOWN	Het;C>T	423;58|25	Hom;C>T	2214;0|84
N	N	-	4	175444006	175444006	C	G	snp	UTR5	-14102G>C	 	 	 	HPGD	Hpgd	ENSG00000164120	hydroxyprostaglandin dehydrogenase 15-(NAD)	chr4:175411328-175444305	This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]	lung cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Amyotrophic Lateral Sclerosis|; colorectal cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Adenoma|Colorectal Neoplasms; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Body Fat Distribution; Alzheimer's disease ; Blood Pressure Determination	Homozygous mutation of this gene results failure of the ductus arteriosus to close and perinatal lethality. Mutant animals die within 12-48 hours after birth due to congestive heart failure.  Mice homozygous for a hypomorphic allele exhibit preterm labor.	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	GO:0001822;kidney development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007565;female pregnancy;IDA|GO:0007567;parturition;IDA|GO:0019372;lipoxygenase pathway;TAS|GO:0030728;ovulation;ISS|GO:0032355;response to estradiol;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045471;response to ethanol;IEA|GO:0045786;negative regulation of cell cycle;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070493;thrombin-activated receptor signaling pathway;IEA|GO:0097070;ductus arteriosus closure;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA|GO:2001300;lipoxin metabolic process;TAS	GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016323;basolateral plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IDA|GO:0004957;prostaglandin E receptor activity;IDA|GO:0016404;15-hydroxyprostaglandin dehydrogenase (NAD+) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;TAS|GO:0051287;NAD binding;IDA|GO:0070403;NAD+ binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPGD		https://hpo.jax.org/app/browse/search?q=HPGD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601688	http://www.informatics.jax.org/searchtool/Search.do?query=HPGD&submit=Quick%0D%11211ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPGD	rs1346271	0.278554	0	0	1	0	0	UTR5	UTR5	UTR5	HPGD(NM_000860:c.-404G>C,NM_001256301:c.-14102G>C,NM_001145816:c.-404G>C,NM_001256306:c.-404G>C,NM_001256305:c.-404G>C,NM_001256307:c.-14102G>C)	HPGD(uc011ckh.1:c.-14102G>C,uc003itu.3:c.-404G>C,uc011ckf.2:c.-14102G>C,uc003itv.3:c.-404G>C,uc011ckg.2:c.-404G>C,uc010irq.3:c.-404G>C)	ENSG00000164120(ENST00000296522:c.-404G>C,ENST00000510901:c.-14102G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	827;44|43	Hom;C>G	1921;0|73
N	N	-	4	175789988	175789988	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101928551																		rs1491403	0.669928	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC101928551	AK093264,BC034301	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	980;36|44	Hom;T>C	2820;1|99
N	N	-	4	175790118	175790118	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101928551																		rs6818105	0.669928	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC101928551	AK093264,BC034301	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	2074;113|99	Hom;G>A	5042;0|185
N	N	-	4	175790746	175790746	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101928551																		rs7667167	0.483626	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC101928551	AK093264,BC034301	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>C	2008;66|84	Hom;G>C	4323;0|150
N	N	-	4	175791157	175791157	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101928551																		rs1994698	0.669129	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC101928551	AK093264,BC034301	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	107;21|8	Hom;G>A	908;0|35
N	N	-	4	17581617	17581617	T	A	snp	intronic	 	 	 	 	LAP3	Lap3	ENSG00000002549	leucine aminopeptidase 3	chr4:17578815-17609595		Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN.		GO:0006508;proteolysis;IEA|GO:0019538;protein metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030496;midbody;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAP3	https://www.uniprot.org/uniprot/P28838		https://www.ncbi.nlm.nih.gov/omim/?term=170250	http://www.informatics.jax.org/searchtool/Search.do?query=LAP3&submit=Quick%0D%289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAP3	rs10939736	0.634385	0	0	1	0	0	intronic	intronic	intronic	LAP3	LAP3	ENSG00000002549	Na	Na	Na	Na	Na	Na	Het;T>A	1154;48|56	Hom;T>A	3279;0|127
N	N	-	4	17581643	17581645	CAG	C	indel	intronic	 	 	 	 	LAP3	Lap3	ENSG00000002549	leucine aminopeptidase 3	chr4:17578815-17609595		Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN.		GO:0006508;proteolysis;IEA|GO:0019538;protein metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030496;midbody;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAP3	https://www.uniprot.org/uniprot/P28838		https://www.ncbi.nlm.nih.gov/omim/?term=170250	http://www.informatics.jax.org/searchtool/Search.do?query=LAP3&submit=Quick%0D%289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAP3	rs35153429	0.54353	0	0	1	0	0	intronic	intronic	intronic	LAP3	LAP3	ENSG00000002549	Na	Na	Na	Na	Na	Na	Het;-AG	1322;30|35	Hom;-AG	2720;0|63
N	N	-	4	17583806	17583806	A	C	snp	intronic	 	 	 	 	LAP3	Lap3	ENSG00000002549	leucine aminopeptidase 3	chr4:17578815-17609595		Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN.		GO:0006508;proteolysis;IEA|GO:0019538;protein metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030496;midbody;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAP3	https://www.uniprot.org/uniprot/P28838		https://www.ncbi.nlm.nih.gov/omim/?term=170250	http://www.informatics.jax.org/searchtool/Search.do?query=LAP3&submit=Quick%0D%289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAP3	rs2010053	0.634585	0	0	1	0	0	intronic	intronic	intronic	LAP3	LAP3	ENSG00000002549	Na	Na	Na	Na	Na	Na	Het;A>C	276;6|9	Hom;A>C	548;0|16
N	N	-	4	17585014	17585014	G	C	snp	intronic	 	 	 	 	LAP3	Lap3	ENSG00000002549	leucine aminopeptidase 3	chr4:17578815-17609595		Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN.		GO:0006508;proteolysis;IEA|GO:0019538;protein metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030496;midbody;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAP3	https://www.uniprot.org/uniprot/P28838		https://www.ncbi.nlm.nih.gov/omim/?term=170250	http://www.informatics.jax.org/searchtool/Search.do?query=LAP3&submit=Quick%0D%289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAP3	rs1476836	0.634585	0	0	1	0	0	intronic	intronic	intronic	LAP3	LAP3	ENSG00000002549	Na	Na	Na	Na	Na	Na	Het;G>C	335;11|14	Hom;G>C	305;0|8
N	N	-	4	17586703	17586703	T	C	snp	synonymous SNV	T648C	A216A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAP3	Lap3	ENSG00000002549	leucine aminopeptidase 3	chr4:17578815-17609595		Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN.		GO:0006508;proteolysis;IEA|GO:0019538;protein metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030496;midbody;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LAP3	https://www.uniprot.org/uniprot/P28838		https://www.ncbi.nlm.nih.gov/omim/?term=170250	http://www.informatics.jax.org/searchtool/Search.do?query=LAP3&submit=Quick%0D%289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAP3	rs3733576	0.764377	0.6977	0.7088	1	0	0	exonic	exonic	exonic	LAP3	LAP3	ENSG00000002549	synonymous SNV	synonymous SNV	unknown	LAP3:NM_015907:exon6:c.T648C:p.A216A,	LAP3:uc003gph.1:exon6:c.T648C:p.A216A,	UNKNOWN	Het;T>C	1232;79|64	Hom;T>C	3608;0|139
N	N	-	4	17590734	17590734	A	T	snp	ncRNA_intronic	 	 	 	 	AC006160.1																		rs11737120	0.634385	0	0	1	0	0	intronic	intronic	ncRNA_intronic	LAP3	LAP3	ENSG00000249502	Na	Na	Na	Na	Na	Na	Het;A>T	234;10|11	Hom;A>T	700;0|22
N	N	-	4	175949051	175949051	C	T	snp	intergenic	 	 	 	 	AC022325.1																		rs1479386	0.394569	0	0	1	0	0	intergenic	intergenic	intergenic	ADAM29(dist=49720),GPM6A(dist=605037)	ADAM29(dist=49720),GPM6A(dist=605037)	ENSG00000249411(dist=8686),ENSG00000249284(dist=258705)	Na	Na	Na	Na	Na	Na	Het;C>T	69;15|5	Hom;C>T	698;0|29
N	N	-	4	17599894	17599894	G	T	snp	ncRNA_intronic	 	 	 	 	AC006160.1																		rs3775927	0.551518	0	0	1	0	0	intronic	intronic	ncRNA_intronic	LAP3	LAP3	ENSG00000249502	Na	Na	Na	Na	Na	Na	Het;G>T	56;4|3	Hom;G>T	90;0|4
N	N	-	4	17608299	17608299	T	C	snp	ncRNA_intronic	 	 	 	 	AC006160.1																		rs2058336	0.610024	0	0	1	0	0	intronic	intronic	ncRNA_intronic	LAP3	LAP3	ENSG00000249502	Na	Na	Na	Na	Na	Na	Het;T>C	87;10|4	Hom;T>C	133;0|4
N	N	-	4	17608620	17608620	A	G	snp	ncRNA_intronic	 	 	 	 	AC006160.1																		rs4698628	0.610224	0	0	1	0	0	intronic	intronic	ncRNA_intronic	LAP3	LAP3	ENSG00000249502	Na	Na	Na	Na	Na	Na	Het;A>G	448;25|17	Hom;A>G	1024;0|33
N	N	-	4	17616214	17616214	C	A	snp	upstream	 	 	 	 	MED28	Med28	ENSG00000118579	mediator complex subunit 28	chr4:17616254-17635728		HIV Infections|[X]Human immunodeficiency virus disease	Embryos homozygous for a knock-out allele exhibit disorganized extraembryonic tissues, failure to form an egg cylinder, absent embryonic epiblast, and peri-implantation lethality resulting from the loss of pluripotency of the inner cell mass.	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0051151;negative regulation of smooth muscle cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016592;mediator complex;IEA|GO:0030864;cortical actin cytoskeleton;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MED28	https://www.uniprot.org/uniprot/Q9H204		https://www.ncbi.nlm.nih.gov/omim/?term=610311	http://www.informatics.jax.org/searchtool/Search.do?query=MED28&submit=Quick%0D%4993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED28	rs2286773	0.634984	0	0	1	0	0	upstream	upstream	upstream	MED28	MED28	ENSG00000118579,ENSG00000249502	Na	Na	Na	Na	Na	Na	Het;C>A	117;3|6	Hom;C>A	294;0|11
N	N	-	4	17621383	17621383	C	T	snp	intronic	 	 	 	 	MED28	Med28	ENSG00000118579	mediator complex subunit 28	chr4:17616254-17635728		HIV Infections|[X]Human immunodeficiency virus disease	Embryos homozygous for a knock-out allele exhibit disorganized extraembryonic tissues, failure to form an egg cylinder, absent embryonic epiblast, and peri-implantation lethality resulting from the loss of pluripotency of the inner cell mass.	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0051151;negative regulation of smooth muscle cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016592;mediator complex;IEA|GO:0030864;cortical actin cytoskeleton;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MED28	https://www.uniprot.org/uniprot/Q9H204		https://www.ncbi.nlm.nih.gov/omim/?term=610311	http://www.informatics.jax.org/searchtool/Search.do?query=MED28&submit=Quick%0D%4993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED28	rs7673500	0.604832	0	0	1	0	0	intronic	intronic	intronic	MED28	MED28	ENSG00000118579	Na	Na	Na	Na	Na	Na	Het;C>T	52;5|3	Hom;C>T	210;0|7
N	N	-	4	17625209	17625209	G	C	snp	intronic	 	 	 	 	MED28	Med28	ENSG00000118579	mediator complex subunit 28	chr4:17616254-17635728		HIV Infections|[X]Human immunodeficiency virus disease	Embryos homozygous for a knock-out allele exhibit disorganized extraembryonic tissues, failure to form an egg cylinder, absent embryonic epiblast, and peri-implantation lethality resulting from the loss of pluripotency of the inner cell mass.	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0051151;negative regulation of smooth muscle cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016592;mediator complex;IEA|GO:0030864;cortical actin cytoskeleton;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MED28	https://www.uniprot.org/uniprot/Q9H204		https://www.ncbi.nlm.nih.gov/omim/?term=610311	http://www.informatics.jax.org/searchtool/Search.do?query=MED28&submit=Quick%0D%4993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED28	rs11733730	0.637181	0.5849	0.6493	1	0	0	intronic	intronic	intronic	MED28	MED28	ENSG00000118579	Na	Na	Na	Na	Na	Na	Het;G>C	521;18|20	Hom;G>C	1093;0|36
N	N	-	4	17634255	17634255	G	A	snp	ncRNA_exonic	 	 	 	 	CR936688																		rs6847966	0.636981	0	0.6016	1	0	0	intronic	ncRNA_exonic	UTR3	FAM184B	CR936688	ENSG00000118579(ENST00000237380:c.*8834G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1343;33|37	Hom;G>A	2792;1|67
N	N	-	4	17634256	17634256	C	CAA	indel	ncRNA_exonic	 	 	 	 	CR936688																		rs142873186	0	0.4770	0.5647	1	0	0	intronic	ncRNA_exonic	UTR3	FAM184B	CR936688	ENSG00000118579(ENST00000237380:c.*8835C>CAA)	Na	Na	Na	Na	Na	Na	Het;+AA	1278;31|36	Hom;+AA	2680;1|65
N	N	-	4	17635556	17635561	CAAAAT	C	indel	ncRNA_exonic	 	 	 	 	CR936688																		rs140729140	0	0.4300	0.5620	1	0	0	intronic	ncRNA_exonic	UTR3	FAM184B	CR936688	ENSG00000118579(ENST00000237380:c.*10135_*10140delinsC)	Na	Na	Na	Na	Na	Na	Het;-AAAAT	524;23|15	Hom;-AAAAT	767;0|18
N	N	-	4	17638020	17638020	A	C	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs7659718	0.636981	0	0	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;A>C	71;4|3	Hom;A>C	254;0|8
N	N	-	4	17640858	17640858	C	T	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs6811887	0.550519	0.5053	0.5750	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;C>T	531;14|25	Hom;C>T	1669;0|58
N	N	-	4	17643848	17643848	G	A	snp	nonsynonymous SNV	C2350T	R784W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs2286771	0.538538	0	0.6618	0.15	2	13	exonic	exonic	exonic	FAM184B	FAM184B	ENSG00000047662	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM184B:NM_015688:exon13:c.C2350T:p.R784W,	FAM184B:uc003gpm.4:exon13:c.C2350T:p.R784W,	UNKNOWN	Het;G>A	173;20|12	Hom;G>A	542;0|21
N	N	-	4	17649233	17649233	T	G	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs3733577	0.64976	0	0.6211	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;T>G	1101;78|51	Hom;T>G	2980;0|107
N	N	-	4	17649494	17649494	T	C	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs6813374	0.634784	0	0	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;T>C	919;40|29	Hom;T>C	1658;0|44
N	N	-	4	17649499	17649499	T	G	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs6813375	0.635583	0	0	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;T>G	851;41|26	Hom;T>G	1648;0|39
N	N	-	4	17654341	17654341	G	A	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs2302393	0.550719	0	0	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;G>A	56;4|3	Hom;G>A	141;0|6
N	N	-	4	17654648	17654648	T	C	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs3815413	0.635383	0.5968	0.5961	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;T>C	145;9|6	Hom;T>C	470;0|16
N	N	-	4	176555282	176555282	A	G	snp	UTR3	*774T>C	 	 	 	GPM6A	Gpm6a	ENSG00000150625	glycoprotein M6A	chr4:176554085-176923815		Triglycerides; Tobacco Use Disorder; Bipolar Disorder; Behcet Syndrome; Glucose; Heart Failure; Marijuana Abuse|Psychoses, Substance-Induced; Schizophrenia; Lipoproteins; Mortality	Homozygous mutation of this gene results in increased percentage of total body fat and total body fat mass.		GO:0001764;neuron migration;IDA|GO:0003407;neural retina development;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048863;stem cell differentiation;IDA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0044295;axonal growth cone;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GPM6A	https://www.uniprot.org/uniprot/P51674		https://www.ncbi.nlm.nih.gov/omim/?term=601275	http://www.informatics.jax.org/searchtool/Search.do?query=GPM6A&submit=Quick%0D%9331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPM6A	rs1049835	0.223243	0	0	1	0	0	UTR3	UTR3	UTR3	GPM6A(NM_005277:c.*774T>C,NM_201592:c.*774T>C,NM_201591:c.*774T>C,NM_001261448:c.*774T>C,NM_001261447:c.*774T>C)	GPM6A(uc011ckj.2:c.*774T>C,uc003iuf.4:c.*774T>C,uc003iug.4:c.*774T>C,uc003iuh.4:c.*774T>C,uc031shx.1:c.*774T>C,uc031shy.1:c.*774T>C)	ENSG00000150625(ENST00000280187:c.*774T>C,ENST00000393658:c.*774T>C,ENST00000506894:c.*774T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1340;75|60	Hom;A>G	3763;0|131
N	N	-	4	176555585	176555585	A	C	snp	UTR3	*471T>G	 	 	 	GPM6A	Gpm6a	ENSG00000150625	glycoprotein M6A	chr4:176554085-176923815		Triglycerides; Tobacco Use Disorder; Bipolar Disorder; Behcet Syndrome; Glucose; Heart Failure; Marijuana Abuse|Psychoses, Substance-Induced; Schizophrenia; Lipoproteins; Mortality	Homozygous mutation of this gene results in increased percentage of total body fat and total body fat mass.		GO:0001764;neuron migration;IDA|GO:0003407;neural retina development;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048863;stem cell differentiation;IDA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0044295;axonal growth cone;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GPM6A	https://www.uniprot.org/uniprot/P51674		https://www.ncbi.nlm.nih.gov/omim/?term=601275	http://www.informatics.jax.org/searchtool/Search.do?query=GPM6A&submit=Quick%0D%9331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPM6A	rs3733398	0.767971	0	0	1	0	0	UTR3	UTR3	UTR3	GPM6A(NM_005277:c.*471T>G,NM_201592:c.*471T>G,NM_201591:c.*471T>G,NM_001261448:c.*471T>G,NM_001261447:c.*471T>G)	GPM6A(uc011ckj.2:c.*471T>G,uc003iuf.4:c.*471T>G,uc003iug.4:c.*471T>G,uc003iuh.4:c.*471T>G,uc031shx.1:c.*471T>G,uc031shy.1:c.*471T>G)	ENSG00000150625(ENST00000280187:c.*471T>G,ENST00000393658:c.*471T>G,ENST00000506894:c.*471T>G)	Na	Na	Na	Na	Na	Na	Het;A>C	1648;81|73	Hom;A>C	2909;0|106
N	N	-	4	17659936	17659936	G	T	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs10939742	0.541134	0.5042	0.5566	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;G>T	333;12|16	Hom;G>T	851;0|30
N	N	-	4	17660082	17660082	C	T	snp	nonsynonymous SNV	G1928A	R643H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs1860596	0.604433	0.5797	0.5824	0.15	2	13	exonic	exonic	exonic	FAM184B	FAM184B	ENSG00000047662	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM184B:NM_015688:exon10:c.G1928A:p.R643H,	FAM184B:uc003gpm.4:exon10:c.G1928A:p.R643H,	UNKNOWN	Het;C>T	1063;61|52	Hom;C>T	3525;0|131
N	N	-	4	17660237	17660237	T	C	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs2302391	0.660343	0.6248	0	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;T>C	627;47|34	Hom;T>C	1939;0|68
N	N	-	4	17661889	17661889	T	C	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs2302389	0.537939	0	0	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;T>C	85;3|4	Hom;T>C	139;0|4
N	N	-	4	176665618	176665618	T	C	snp	intronic	 	 	 	 	GPM6A	Gpm6a	ENSG00000150625	glycoprotein M6A	chr4:176554085-176923815		Triglycerides; Tobacco Use Disorder; Bipolar Disorder; Behcet Syndrome; Glucose; Heart Failure; Marijuana Abuse|Psychoses, Substance-Induced; Schizophrenia; Lipoproteins; Mortality	Homozygous mutation of this gene results in increased percentage of total body fat and total body fat mass.		GO:0001764;neuron migration;IDA|GO:0003407;neural retina development;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048863;stem cell differentiation;IDA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0044295;axonal growth cone;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GPM6A	https://www.uniprot.org/uniprot/P51674		https://www.ncbi.nlm.nih.gov/omim/?term=601275	http://www.informatics.jax.org/searchtool/Search.do?query=GPM6A&submit=Quick%0D%9331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPM6A	rs10446856	0.245807	0	0	1	0	0	intronic	intronic	intronic	GPM6A	GPM6A	ENSG00000150625	Na	Na	Na	Na	Na	Na	Het;T>C	134;9|5	Hom;T>C	327;0|10
N	N	-	4	17694880	17694880	G	C	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs6449324	0.643371	0.5861	0.6004	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;G>C	212;9|10	Hom;G>C	492;0|19
N	N	-	4	17694916	17694916	A	G	snp	intronic	 	 	 	 	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs3822235	0.663339	0	0.6180	1	0	0	intronic	intronic	intronic	FAM184B	FAM184B	ENSG00000047662	Na	Na	Na	Na	Na	Na	Het;A>G	378;15|17	Hom;A>G	769;0|30
N	N	-	4	17694943	17694943	A	G	snp	synonymous SNV	T1470C	L490L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAM184B	Fam184b	ENSG00000047662	family with sequence similarity 184 member B	chr4:17630929-17783135		Body Height	Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/FAM184B	https://www.uniprot.org/uniprot/Q9ULE4			http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B	rs3733579	0.658946	0	0.6079	1	0	0	exonic	exonic	exonic	FAM184B	FAM184B	ENSG00000047662	synonymous SNV	synonymous SNV	unknown	FAM184B:NM_015688:exon6:c.T1470C:p.L490L,	FAM184B:uc003gpm.4:exon6:c.T1470C:p.L490L,	UNKNOWN	Het;A>G	428;18|18	Hom;A>G	1141;0|43
N	N	-	4	177090052	177090052	C	A	snp	intronic	 	 	 	 	WDR17	Wdr17	ENSG00000150627	WD repeat domain 17	chr4:176986985-177103978	This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]	Tobacco Use Disorder	 			GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDR17	https://www.uniprot.org/uniprot/Q8IZU2		https://www.ncbi.nlm.nih.gov/omim/?term=609005	http://www.informatics.jax.org/searchtool/Search.do?query=WDR17&submit=Quick%0D%9332ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR17	rs62339430	0.432308	0	0	1	0	0	intronic	intronic	intronic	WDR17	WDR17	ENSG00000150627	Na	Na	Na	Na	Na	Na	Het;C>A	114;6|5	Hom;C>A	445;0|15
N	N	-	4	177116779	177116779	T	C	snp	UTR5	-66A>G	 	 	 	SPATA4	Spata4	ENSG00000150628	spermatogenesis associated 4	chr4:177105789-177116822		Erythrocyte Count; Tobacco Use Disorder	Male mice homozygous for a mutation are viable and show normal fertility.			GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SPATA4	https://www.uniprot.org/uniprot/Q8NEY3		https://www.ncbi.nlm.nih.gov/omim/?term=609879	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA4&submit=Quick%0D%9333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA4	rs4565028	0.54373	0	0	1	0	0	UTR5	UTR5	UTR5	SPATA4(NM_144644:c.-66A>G)	SPATA4(uc003iuo.1:c.-66A>G)	ENSG00000150628(ENST00000280191:c.-66A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	102;6|4	Hom;T>C	334;0|9
N	N	-	4	177608775	177608775	T	C	snp	ncRNA_intronic	 	 	 	 	AC093801.1																		rs4604006	0.594249	0	0	1	0	0	intronic	intronic	ncRNA_intronic	VEGFC	VEGFC	ENSG00000248388	Na	Na	Na	Na	Na	Na	Het;T>C	154;2|6	Hom;T>C	171;0|5
N	N	-	4	178231152	178231152	C	A	snp	synonymous SNV	C45A	R15R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	NEIL3	Neil3	ENSG00000109674	nei like DNA glycosylase 3	chr4:178230990-178284097	NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]	Adenomatous Polyposis Coli|; Abdominal Fat; Chronic renal failure|Kidney Failure, Chronic; Body Weights and Measures; heart rate variability traits; Subcutaneous Fat; Heart Rate	Mice homozygous for a knock-out allele exhibit decreased neurogenesis following hypoxia-ischemia.		GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IDA|GO:0006289;nucleotide-excision repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0000405;bubble DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003697;single-stranded DNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0003906;DNA-(apurinic or apyrimidinic site) lyase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0016799;hydrolase activity, hydrolyzing N-glycosyl compounds;IEA|GO:0016829;lyase activity;IEA|GO:0019104;DNA N-glycosylase activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEIL3	https://www.uniprot.org/uniprot/Q8TAT5		https://www.ncbi.nlm.nih.gov/omim/?term=608934	http://www.informatics.jax.org/searchtool/Search.do?query=NEIL3&submit=Quick%0D%3870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEIL3	rs10013040	0.169329	0.1982	0.2050	1	0	0	exonic	exonic	exonic	NEIL3	NEIL3	ENSG00000109674	synonymous SNV	synonymous SNV	unknown	NEIL3:NM_018248:exon1:c.C45A:p.R15R,	NEIL3:uc003iut.2:exon1:c.C45A:p.R15R,	UNKNOWN	Het;C>A	354;43|19	Hom;C>A	2290;0|83
N	N	-	4	178256759	178256760	CA	C	indel	intronic	 	 	 	 	NEIL3	Neil3	ENSG00000109674	nei like DNA glycosylase 3	chr4:178230990-178284097	NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]	Adenomatous Polyposis Coli|; Abdominal Fat; Chronic renal failure|Kidney Failure, Chronic; Body Weights and Measures; heart rate variability traits; Subcutaneous Fat; Heart Rate	Mice homozygous for a knock-out allele exhibit decreased neurogenesis following hypoxia-ischemia.		GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IDA|GO:0006289;nucleotide-excision repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0000405;bubble DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003697;single-stranded DNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0003906;DNA-(apurinic or apyrimidinic site) lyase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0016799;hydrolase activity, hydrolyzing N-glycosyl compounds;IEA|GO:0016829;lyase activity;IEA|GO:0019104;DNA N-glycosylase activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEIL3	https://www.uniprot.org/uniprot/Q8TAT5		https://www.ncbi.nlm.nih.gov/omim/?term=608934	http://www.informatics.jax.org/searchtool/Search.do?query=NEIL3&submit=Quick%0D%3870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEIL3	rs3215157	0.408147	0	0	1	0	0	intronic	intronic	intronic	NEIL3	NEIL3	ENSG00000109674	Na	Na	Na	Na	Na	Na	Het;-A	107;11|8	Hom;-A	361;0|16
N	N	-	4	178256913	178256913	C	G	snp	nonsynonymous SNV	C350G	P117R	hydrophobic,neutral	polar,hydrophilic,charged(+)	NEIL3	Neil3	ENSG00000109674	nei like DNA glycosylase 3	chr4:178230990-178284097	NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]	Adenomatous Polyposis Coli|; Abdominal Fat; Chronic renal failure|Kidney Failure, Chronic; Body Weights and Measures; heart rate variability traits; Subcutaneous Fat; Heart Rate	Mice homozygous for a knock-out allele exhibit decreased neurogenesis following hypoxia-ischemia.		GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IDA|GO:0006289;nucleotide-excision repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0000405;bubble DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003697;single-stranded DNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0003906;DNA-(apurinic or apyrimidinic site) lyase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0016799;hydrolase activity, hydrolyzing N-glycosyl compounds;IEA|GO:0016829;lyase activity;IEA|GO:0019104;DNA N-glycosylase activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEIL3	https://www.uniprot.org/uniprot/Q8TAT5		https://www.ncbi.nlm.nih.gov/omim/?term=608934	http://www.informatics.jax.org/searchtool/Search.do?query=NEIL3&submit=Quick%0D%3870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEIL3	rs7689099	0.071885	0.0985	0.1033	0.62	8	13	exonic	exonic	exonic	NEIL3	NEIL3	ENSG00000109674	nonsynonymous SNV	nonsynonymous SNV	unknown	NEIL3:NM_018248:exon3:c.C350G:p.P117R,	NEIL3:uc010irs.3:exon2:c.C59G:p.P20R,NEIL3:uc003iut.2:exon3:c.C350G:p.P117R,	UNKNOWN	Het;C>G	1030;55|54	Hom;C>G	2518;2|97
N	N	-	4	178257516	178257516	G	A	snp	intronic	 	 	 	 	NEIL3	Neil3	ENSG00000109674	nei like DNA glycosylase 3	chr4:178230990-178284097	NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]	Adenomatous Polyposis Coli|; Abdominal Fat; Chronic renal failure|Kidney Failure, Chronic; Body Weights and Measures; heart rate variability traits; Subcutaneous Fat; Heart Rate	Mice homozygous for a knock-out allele exhibit decreased neurogenesis following hypoxia-ischemia.		GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IDA|GO:0006289;nucleotide-excision repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0000405;bubble DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003697;single-stranded DNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0003906;DNA-(apurinic or apyrimidinic site) lyase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0016799;hydrolase activity, hydrolyzing N-glycosyl compounds;IEA|GO:0016829;lyase activity;IEA|GO:0019104;DNA N-glycosylase activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEIL3	https://www.uniprot.org/uniprot/Q8TAT5		https://www.ncbi.nlm.nih.gov/omim/?term=608934	http://www.informatics.jax.org/searchtool/Search.do?query=NEIL3&submit=Quick%0D%3870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEIL3	rs2271102	0.572085	0.6136	0.5361	1	0	0	intronic	intronic	intronic	NEIL3	NEIL3	ENSG00000109674	Na	Na	Na	Na	Na	Na	Het;G>A	320;16|13	Hom;G>A	910;0|29
N	N	-	4	178733380	178733380	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01099																		rs56321946	0.3127	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_intronic	LINC01099	LOC285501	ENSG00000251504	Na	Na	Na	Na	Na	Na	Het;G>A	649;31|31	Hom;G>A	1969;1|73
N	N	-	4	178733763	178733763	C	CCCAGA	indel	ncRNA_exonic	 	 	 	 	LINC01099																		rs56281731	0.758387	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_intronic	LINC01099	LOC285501	ENSG00000251504	Na	Na	Na	Na	Na	Na	Het;+CCAGA	1804;51|47	Hom;+CCAGA	3693;0|81
N	N	-	4	178733922	178733922	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01099																		rs10005890	0.752596	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	LINC01099	LOC285501	ENSG00000251504	Na	Na	Na	Na	Na	Na	Het;T>C	1514;53|54	Hom;T>C	3124;0|102
N	N	-	4	178734078	178734078	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01099																		rs11722766	0.64397	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	LINC01099	LOC285501	ENSG00000251504	Na	Na	Na	Na	Na	Na	Het;G>A	1548;88|73	Hom;G>A	4500;0|166
N	N	-	4	178779533	178779533	A	C	snp	ncRNA_intronic	 	 	 	 	LOC285501																		rs7676385	0.537939	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01098,LINC01099	LOC285501	ENSG00000251504	Na	Na	Na	Na	Na	Na	Het;A>C	118;8|7	Hom;A>C	859;0|30
N	N	-	4	180461760	180461761	GT	G	indel	intergenic	 	 	 	 	AC020551.1																		rs35558284	0.38119	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01098(dist=1549856),LINC00290(dist=1523482)	Mir_544(dist=111924),LINC00290(dist=1523482)	ENSG00000250993(dist=75301),ENSG00000248921(dist=316245)	Na	Na	Na	Na	Na	Na	Het;-T	415;3|22	Hom;-T	414;0|19
N	N	-	4	180611993	180611993	G	A	snp	intergenic	 	 	 	 	AC020551.1																		rs2703822	0.298722	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01098(dist=1700089),LINC00290(dist=1373250)	Mir_544(dist=262157),LINC00290(dist=1373250)	ENSG00000250993(dist=225534),ENSG00000248921(dist=166013)	Na	Na	Na	Na	Na	Na	Het;G>A	175;6|7	Hom;G>A	281;0|9
N	N	-	4	182230250	182230250	G	A	snp	intergenic	 	 	 	 	AC019235.2																		rs9985794	0.27476	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00290(dist=149948),LOC90768(dist=829563)	LINC00290(dist=149948),7SK(dist=525768)	ENSG00000249460(dist=44068),ENSG00000225356(dist=213563)	Na	Na	Na	Na	Na	Na	Het;G>A	188;20|12	Hom;G>A	1212;0|45
N	N	-	4	182280253	182280256	TATC	T	indel	intergenic	 	 	 	 	AC019235.2																		rs35847856	0.543131	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00290(dist=199951),LOC90768(dist=779557)	LINC00290(dist=199951),7SK(dist=475762)	ENSG00000249460(dist=94071),ENSG00000225356(dist=163557)	Na	Na	Na	Na	Na	Na	Het;-ATC	1094;15|28	Hom;-ATC	2418;0|55
N	N	-	4	182925068	182925068	G	A	snp	ncRNA_intronic	 	 	 	 	AK056196																		rs6552539	0.610024	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	LINC00290(dist=844766),LOC90768(dist=134745)	AK056196	ENSG00000177822	Na	Na	Na	Na	Na	Na	Het;G>A	172;5|7	Hom;G>A	398;0|14
N	N	-	4	183060694	183060694	A	G	snp	ncRNA_exonic	 	 	 	 	LOC90768																		rs1450141	0.796925	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LOC90768	MGC45800	ENSG00000177822	Na	Na	Na	Na	Na	Na	Het;A>G	1333;65|60	Hom;A>G	3299;0|112
N	N	-	4	183673286	183673286	T	TCTAA	indel	intronic	 	 	 	 	TENM3	Tenm3	ENSG00000218336	teneurin transmembrane protein 3	chr4:183065140-183724177	This gene encodes a large transmembrane protein that may be involved in the regulation of neuronal development. Mutation in this gene causes microphthalmia. [provided by RefSeq, Aug 2015]	Aorta; Tobacco Use Disorder; Respiratory Function Tests; Intra-Abdominal Fat; Myocardial Infarction; Eosinophils; Iron	Mice homozygous for a null mutation display abnormal ipsilateral retinal ganglion cell projections and impaired performance in visually mediated behavioral tasks.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007165;signal transduction;IEA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0030154;cell differentiation;IEA|GO:0048593;camera-type eye morphogenesis;IMP|GO:0048666;neuron development;IEA|GO:0097264;self proteolysis;IEA	GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA	GO:0042803;protein homodimerization activity;ISS|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TENM3		https://hpo.jax.org/app/browse/search?q=TENM3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610083	http://www.informatics.jax.org/searchtool/Search.do?query=TENM3&submit=Quick%0D%18378ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM3	rs139756555	0.294329	0	0	1	0	0	intronic	intronic	intronic	TENM3	TENM3	ENSG00000218336	Na	Na	Na	Na	Na	Na	Het;+CTAA	158;5|5	Hom;+CTAA	98;0|3
N	N	-	4	184572341	184572342	GA	G	indel	intronic	 	 	 	 	RWDD4	Rwdd4a	ENSG00000182552	RWD domain containing 4	chr4:184560788-184580378			 					http://www.genecards.org/index.php?path=/Search/keyword/RWDD4				http://www.informatics.jax.org/searchtool/Search.do?query=RWDD4&submit=Quick%0D%14811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RWDD4	rs56817841	0.25	0.2768	0.2651	1	0	0	intronic	intronic	intronic	RWDD4	RWDD4	ENSG00000182552	Na	Na	Na	Na	Na	Na	Het;-A	529;22|21	Hom;-A	1297;1|43
N	N	-	4	184993791	184993791	C	T	snp	ncRNA_exonic	 	 	 	 	AC107222.1																		rs4327530	0.086262	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	STOX2(dist=54916),ENPP6(dist=16068)	AK001394(dist=49114),ENPP6(dist=16068)	ENSG00000250726	Na	Na	Na	Na	Na	Na	Het;C>T	106;6|6	Hom;C>T	258;0|11
N	N	-	4	185339517	185339517	C	T	snp	intronic	 	 	 	 	IRF2	Irf2	ENSG00000168310	interferon regulatory factor 2	chr4:185308867-185395734	IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008]	Triglycerides; Bipolar Disorder; Hip; psoriasis; Myocardial Infarction; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; Lipids; Erythrocyte Count; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hepatitis B, Chronic|Viremia; Hemoglobins; atopic dermatitis	Mice homozygous for a knock-out allele exhibit abnormalities in B lymphopoiesis and hematopoiesis, often die prematurely, show increased mortality following lymphocytic choriomeningitis virus infection, and develop an inflammatory skin disease involving CD8+ Tcells.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007596;blood coagulation;TAS|GO:0008283;cell proliferation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA	GO:0000975;regulatory region DNA binding;IEA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IMP|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IMP|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IRF2			https://www.ncbi.nlm.nih.gov/omim/?term=147576	http://www.informatics.jax.org/searchtool/Search.do?query=IRF2&submit=Quick%0D%12244ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF2	rs2288246	0.497005	0	0	1	0	0	intronic	intronic	intronic	IRF2	IRF2	ENSG00000168310	Na	Na	Na	Na	Na	Na	Het;C>T	118;8|5	Hom;C>T	304;0|9
N	N	-	4	185573312	185573312	C	G	snp	intronic	 	 	 	 	PRIMPOL	Primpol	ENSG00000164306	primase and DNA directed polymerase	chr4:185570767-185616117	This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	benzene haematotoxicity	Homozygous null mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells.		GO:0006264;mitochondrial DNA replication;IMP|GO:0006269;DNA replication, synthesis of RNA primer;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IDA|GO:0019985;translesion synthesis;IMP|GO:0031297;replication fork processing;IMP|GO:0032774;RNA biosynthetic process;IEA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IDA	GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IDA|GO:0003896;DNA primase activity;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0030145;manganese ion binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PRIMPOL		https://hpo.jax.org/app/browse/search?q=PRIMPOL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615421	http://www.informatics.jax.org/searchtool/Search.do?query=PRIMPOL&submit=Quick%0D%11272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMPOL	rs4861629	0.590855	0	0	1	0	0	intronic	intronic	intronic	PRIMPOL	CCDC111	ENSG00000164306	Na	Na	Na	Na	Na	Na	Het;C>G	318;25|17	Hom;C>G	1193;0|45
N	N	-	4	185578229	185578229	G	T	snp	intronic	 	 	 	 	PRIMPOL	Primpol	ENSG00000164306	primase and DNA directed polymerase	chr4:185570767-185616117	This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	benzene haematotoxicity	Homozygous null mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells.		GO:0006264;mitochondrial DNA replication;IMP|GO:0006269;DNA replication, synthesis of RNA primer;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IDA|GO:0019985;translesion synthesis;IMP|GO:0031297;replication fork processing;IMP|GO:0032774;RNA biosynthetic process;IEA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IDA	GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IDA|GO:0003896;DNA primase activity;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0030145;manganese ion binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PRIMPOL		https://hpo.jax.org/app/browse/search?q=PRIMPOL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615421	http://www.informatics.jax.org/searchtool/Search.do?query=PRIMPOL&submit=Quick%0D%11272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMPOL	rs13108061	0.407149	0	0	1	0	0	intronic	intronic	intronic	PRIMPOL	CCDC111	ENSG00000164306	Na	Na	Na	Na	Na	Na	Het;G>T	408;33|22	Hom;G>T	1138;3|47
N	N	-	4	185612627	185612628	CT	C	indel	intronic	 	 	 	 	PRIMPOL	Primpol	ENSG00000164306	primase and DNA directed polymerase	chr4:185570767-185616117	This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	benzene haematotoxicity	Homozygous null mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells.		GO:0006264;mitochondrial DNA replication;IMP|GO:0006269;DNA replication, synthesis of RNA primer;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IDA|GO:0019985;translesion synthesis;IMP|GO:0031297;replication fork processing;IMP|GO:0032774;RNA biosynthetic process;IEA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IDA	GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IDA|GO:0003896;DNA primase activity;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0030145;manganese ion binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PRIMPOL		https://hpo.jax.org/app/browse/search?q=PRIMPOL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615421	http://www.informatics.jax.org/searchtool/Search.do?query=PRIMPOL&submit=Quick%0D%11272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMPOL	rs35926668	0	0	0.5127	1	0	0	intronic	intronic	intronic	PRIMPOL	CCDC111	ENSG00000164306	Na	Na	Na	Na	Na	Na	Het;-T	299;18|23	Hom;-T	507;1|26
N	N	-	4	185622046	185622046	C	T	snp	intronic	 	 	 	 	CENPU	Cenpu	ENSG00000151725	centromere protein U	chr4:185615772-185655287	The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]	Mucocutaneous Lymph Node Syndrome	Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E9.5, small embryo size and thickened visceral endoderm.	Mitotic Prometaphase	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0016032;viral process;IEA|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043009;chordate embryonic development;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CENPU	https://www.uniprot.org/uniprot/Q71F23		https://www.ncbi.nlm.nih.gov/omim/?term=611511	http://www.informatics.jax.org/searchtool/Search.do?query=CENPU&submit=Quick%0D%9463ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPU	rs11728389	0.439696	0.5510	0.5767	1	0	0	intronic	intronic	intronic	CENPU	MLF1IP	ENSG00000151725	Na	Na	Na	Na	Na	Na	Het;C>T	1037;66|55	Hom;C>T	2767;2|109
N	N	-	4	185652147	185652147	G	A	snp	intronic	 	 	 	 	CENPU	Cenpu	ENSG00000151725	centromere protein U	chr4:185615772-185655287	The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]	Mucocutaneous Lymph Node Syndrome	Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E9.5, small embryo size and thickened visceral endoderm.	Mitotic Prometaphase	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0016032;viral process;IEA|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043009;chordate embryonic development;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CENPU	https://www.uniprot.org/uniprot/Q71F23		https://www.ncbi.nlm.nih.gov/omim/?term=611511	http://www.informatics.jax.org/searchtool/Search.do?query=CENPU&submit=Quick%0D%9463ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPU	rs3806796	0.44369	0.5556	0.5791	1	0	0	intronic	intronic	intronic	CENPU	MLF1IP	ENSG00000151725	Na	Na	Na	Na	Na	Na	Het;G>A	331;14|18	Hom;G>A	1053;0|43
N	N	-	4	185701549	185701549	G	T	snp	synonymous SNV	C414A	I138I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ACSL1	Acsl1	ENSG00000151726	acyl-CoA synthetase long chain family member 1	chr4:185676749-185747972	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Acquired Immunodeficiency Syndrome|Disease Progression; Stroke; Insulin Resistance|Metabolic Syndrome X; plasma HDL cholesterol (HDL-C) levels	Liver acyl-CoA levels are reduced when this gene is conditionally knocked out in the liver. Impaired adaptive thermogenesis when this gene is conditionally knocked out in adipose tissue.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0010033;response to organic substance;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0015908;fatty acid transport;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0033211;adiponectin-activated signaling pathway;IEA|GO:0034201;response to oleic acid;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0042178;xenobiotic catabolic process;IEA|GO:0042493;response to drug;IEA|GO:0043651;linoleic acid metabolic process;TAS|GO:0044539;long-chain fatty acid import;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL1	https://www.uniprot.org/uniprot/P33121		https://www.ncbi.nlm.nih.gov/omim/?term=152425	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL1&submit=Quick%0D%9464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL1	rs1803898	0.160743	0.2470	0.2590	1	0	0	exonic	exonic	exonic	ACSL1	ACSL1	ENSG00000151726	synonymous SNV	synonymous SNV	unknown	ACSL1:NM_001286710:exon5:c.C414A:p.I138I,ACSL1:NM_001995:exon5:c.C414A:p.I138I,ACSL1:NM_001286708:exon5:c.C414A:p.I138I,	ACSL1:uc003iwt.1:exon5:c.C414A:p.I138I,ACSL1:uc003iwu.1:exon5:c.C414A:p.I138I,ACSL1:uc003iww.2:exon5:c.C414A:p.I138I,	UNKNOWN	Het;G>T	1071;58|53	Hom;G>T	2860;2|113
N	N	-	4	185701620	185701620	T	C	snp	intronic	 	 	 	 	ACSL1	Acsl1	ENSG00000151726	acyl-CoA synthetase long chain family member 1	chr4:185676749-185747972	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Acquired Immunodeficiency Syndrome|Disease Progression; Stroke; Insulin Resistance|Metabolic Syndrome X; plasma HDL cholesterol (HDL-C) levels	Liver acyl-CoA levels are reduced when this gene is conditionally knocked out in the liver. Impaired adaptive thermogenesis when this gene is conditionally knocked out in adipose tissue.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IDA|GO:0010033;response to organic substance;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0015908;fatty acid transport;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0033211;adiponectin-activated signaling pathway;IEA|GO:0034201;response to oleic acid;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0042178;xenobiotic catabolic process;IEA|GO:0042493;response to drug;IEA|GO:0043651;linoleic acid metabolic process;TAS|GO:0044539;long-chain fatty acid import;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL1	https://www.uniprot.org/uniprot/P33121		https://www.ncbi.nlm.nih.gov/omim/?term=152425	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL1&submit=Quick%0D%9464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL1	rs7680850	0.164337	0.2491	0.2610	1	0	0	intronic	intronic	intronic	ACSL1	ACSL1	ENSG00000151726	Na	Na	Na	Na	Na	Na	Het;T>C	1347;51|58	Hom;T>C	2747;0|100
N	N	-	4	185767212	185767213	CT	C	indel	ncRNA_exonic	 	 	 	 	LOC731424																		rs71591671	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LOC731424	LOC731424	ENSG00000251230	Na	Na	Na	Na	Na	Na	Het;-T	1055;11|60	Hom;-T	1052;5|58
N	N	-	4	185767494	185767494	G	A	snp	ncRNA_exonic	 	 	 	 	LOC731424																		rs12152574	0.53774	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC731424	LOC731424	ENSG00000251230	Na	Na	Na	Na	Na	Na	Het;G>A	148;7|8	Hom;G>A	426;0|16
N	N	-	4	185771534	185771534	G	C	snp	downstream	 	 	 	 	MIR3945																		rs3796687	0.438498	0	0	1	0	0	downstream	ncRNA_intronic	ncRNA_intronic	MIR3945	BC016366	ENSG00000251230	Na	Na	Na	Na	Na	Na	Het;G>C	239;12|9	Hom;G>C	621;0|21
N	N	-	4	185771771	185771771	C	T	snp	downstream	 	 	 	 	MIR3945																		rs3822126	0.547923	0	0	1	0	0	downstream	ncRNA_intronic	ncRNA_intronic	MIR3945	BC016366	ENSG00000251230	Na	Na	Na	Na	Na	Na	Het;C>T	609;27|27	Hom;C>T	1782;0|65
N	N	-	4	185853580	185853580	T	C	snp	intergenic	 	 	 	 	AC084871.2																		rs7660513	0.65655	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01093(dist=32965),MIR4455(dist=5957)	LOC100506229(dist=32965),HELT(dist=86415)	ENSG00000251147(dist=21074),ENSG00000263458(dist=5957)	Na	Na	Na	Na	Na	Na	Het;T>C	42;2|3	Hom;T>C	248;0|10
N	N	-	4	185859682	185859682	A	G	snp	upstream	 	 	 	 	MIR4455																		rs10446837	0.17492	0	0	1	0	0	upstream	intergenic	upstream	MIR4455	LOC100506229(dist=39067),HELT(dist=80313)	ENSG00000263458	Na	Na	Na	Na	Na	Na	Het;A>G	792;36|31	Hom;A>G	1834;0|55
N	N	-	4	185940461	185940461	C	T	snp	intronic	 	 	 	 	HELT	Helt	ENSG00000187821	helt bHLH transcription factor	chr4:185939995-185941958		Alcoholism	Mice homozygous for a null allele show loss of GABAergic neurons in the superior colliculus, limb cramping, seizures, impaired suckling, reduced growth and death between 2 and 5 wks of age. Mice homozygous for a reporter allele show loss of GABAergic neurons and increased glutamatergic generation.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001967;suckling behavior;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007417;central nervous system development;IEA|GO:0009791;post-embryonic development;IEA|GO:0010259;multicellular organism aging;IEA|GO:0010467;gene expression;IEA|GO:0021858;GABAergic neuron differentiation in basal ganglia;IEA|GO:0030182;neuron differentiation;IEA|GO:0035264;multicellular organism growth;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELT			https://www.ncbi.nlm.nih.gov/omim/?term=617546	http://www.informatics.jax.org/searchtool/Search.do?query=HELT&submit=Quick%0D%15906ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELT	rs4862491	0.670927	0	0	1	0	0	intronic	intronic	intronic	HELT	HELT	ENSG00000187821	Na	Na	Na	Na	Na	Na	Het;C>T	100;8|5	Hom;C>T	247;0|9
N	N	-	4	186423637	186423637	G	A	snp	synonymous SNV	C906T	V302V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDLIM3	Pdlim3	ENSG00000154553	PDZ and LIM domain 3	chr4:186422851-186456766	The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]	Waist Circumference; dilated cardiomyopathy	Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults.		GO:0007015;actin filament organization;IEA|GO:0007507;heart development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0030018;Z disc;IEA	GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0008307;structural constituent of muscle;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM3	https://www.uniprot.org/uniprot/Q53GG5		https://www.ncbi.nlm.nih.gov/omim/?term=605889	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM3&submit=Quick%0D%9782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM3	rs4635850	0.659545	0.6967	0.7830	1	0	0	exonic	exonic	exonic	PDLIM3	PDLIM3	ENSG00000154553	synonymous SNV	synonymous SNV	unknown	PDLIM3:NM_014476:exon8:c.C906T:p.V302V,PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,	PDLIM3:uc003ixw.4:exon8:c.C906T:p.V302V,PDLIM3:uc003ixx.4:exon7:c.C762T:p.V254V,PDLIM3:uc031sib.1:exon5:c.C405T:p.V135V,PDLIM3:uc031sia.1:exon7:c.C642T:p.V214V,	UNKNOWN	Het;G>A	530;19|25	Hom;G>A	1171;0|44
N	N	-	4	186423677	186423677	G	A	snp	intronic	 	 	 	 	PDLIM3	Pdlim3	ENSG00000154553	PDZ and LIM domain 3	chr4:186422851-186456766	The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]	Waist Circumference; dilated cardiomyopathy	Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults.		GO:0007015;actin filament organization;IEA|GO:0007507;heart development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0030018;Z disc;IEA	GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0008307;structural constituent of muscle;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM3	https://www.uniprot.org/uniprot/Q53GG5		https://www.ncbi.nlm.nih.gov/omim/?term=605889	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM3&submit=Quick%0D%9782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM3	rs10866276	0.659545	0.6974	0.7848	1	0	0	intronic	intronic	intronic	PDLIM3	PDLIM3	ENSG00000154553	Na	Na	Na	Na	Na	Na	Het;G>A	473;7|19	Hom;G>A	594;0|22
N	N	-	4	186427841	186427841	T	C	snp	intronic	 	 	 	 	PDLIM3	Pdlim3	ENSG00000154553	PDZ and LIM domain 3	chr4:186422851-186456766	The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]	Waist Circumference; dilated cardiomyopathy	Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults.		GO:0007015;actin filament organization;IEA|GO:0007507;heart development;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0030018;Z disc;IEA	GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0008307;structural constituent of muscle;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM3	https://www.uniprot.org/uniprot/Q53GG5		https://www.ncbi.nlm.nih.gov/omim/?term=605889	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM3&submit=Quick%0D%9782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM3	rs2306705	0.764177	0.8042	0.8137	1	0	0	intronic	intronic	intronic	PDLIM3	PDLIM3	ENSG00000154553	Na	Na	Na	Na	Na	Na	Het;T>C	708;65|37	Hom;T>C	3029;0|112
N	N	-	4	187262235	187262235	C	A	snp	ncRNA_intronic	 	 	 	 	LOC285441																		rs77174595	0.0836661	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	F11-AS1	LOC285441	ENSG00000251165	Na	Na	Na	Na	Na	Na	Het;C>A	142;6|7	Hom;C>A	392;0|16
N	N	-	4	187353199	187353199	G	A	snp	ncRNA_intronic	 	 	 	 	LOC285441																		rs67235209	0.390974	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	F11-AS1	LOC285441	ENSG00000251165	Na	Na	Na	Na	Na	Na	Het;G>A	118;6|5	Hom;G>A	293;0|9
N	N	-	4	187353362	187353362	G	A	snp	ncRNA_exonic	 	 	 	 	F11-AS1																		rs67831206	0.318291	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	F11-AS1	LOC285441	ENSG00000251165	Na	Na	Na	Na	Na	Na	Het;G>A	1486;48|44	Hom;G>A	3335;0|80
N	N	-	4	187353388	187353388	C	T	snp	ncRNA_exonic	 	 	 	 	F11-AS1																		rs66481440	0.319489	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	F11-AS1	LOC285441	ENSG00000251165	Na	Na	Na	Na	Na	Na	Het;C>T	1236;43|36	Hom;C>T	3061;0|68
N	N	-	4	187421894	187421894	A	G	snp	ncRNA_intronic	 	 	 	 	LOC285441																		rs6553001	0.657947	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	F11-AS1	LOC285441	ENSG00000251165	Na	Na	Na	Na	Na	Na	Het;A>G	94;7|4	Hom;A>G	186;0|5
N	N	-	4	187656456	187656456	T	G	snp	intergenic	 	 	 	 	FAT1	Fat1	ENSG00000083857	FAT atypical cadherin 1	chr4:187508937-187647876	This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]	Cholesterol, HDL; Hip; Blood Pressure Determination; Bipolar Disorder; Electrocardiography; Obesity; bipolar disorder; null	Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects and perinatal lethality. Mice homozygous for a hypomorphic allele exhibit altered shoulder girdle and facial musculature, retinal defects, abnormal inner earpatterning and kidney defects.		GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007267;cell-cell signaling;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;ISS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAT1	https://www.uniprot.org/uniprot/Q14517		https://www.ncbi.nlm.nih.gov/omim/?term=600976	http://www.informatics.jax.org/searchtool/Search.do?query=FAT1&submit=Quick%0D%1846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT1	rs11132407	0.228834	0	0	1	0	0	intergenic	intergenic	intergenic	FAT1(dist=11469),LOC339975(dist=568781)	FAT1(dist=8606),LOC339975(dist=568781)	ENSG00000083857(dist=8580),ENSG00000252382(dist=122073)	Na	Na	Na	Na	Na	Na	Het;T>G	40;4|3	Hom;T>G	71;0|4
N	N	-	4	187730995	187730995	T	C	snp	intergenic	 	 	 	 	FAT1	Fat1	ENSG00000083857	FAT atypical cadherin 1	chr4:187508937-187647876	This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]	Cholesterol, HDL; Hip; Blood Pressure Determination; Bipolar Disorder; Electrocardiography; Obesity; bipolar disorder; null	Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects and perinatal lethality. Mice homozygous for a hypomorphic allele exhibit altered shoulder girdle and facial musculature, retinal defects, abnormal inner earpatterning and kidney defects.		GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007267;cell-cell signaling;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;ISS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAT1	https://www.uniprot.org/uniprot/Q14517		https://www.ncbi.nlm.nih.gov/omim/?term=600976	http://www.informatics.jax.org/searchtool/Search.do?query=FAT1&submit=Quick%0D%1846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT1	rs149355229	0.0303514	0	0	1	0	0	intergenic	intergenic	intergenic	FAT1(dist=86008),LOC339975(dist=494242)	FAT1(dist=83145),LOC339975(dist=494242)	ENSG00000083857(dist=83119),ENSG00000252382(dist=47534)	Na	Na	Na	Na	Na	Na	Het;T>C	1252;74|58	Hom;T>C	2769;0|101
N	N	-	4	187780746	187780746	A	T	snp	intergenic	 	 	 	 	ENSG00000252382																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	FAT1(dist=135759),LOC339975(dist=444491)	FAT1(dist=132896),LOC339975(dist=444491)	ENSG00000252382(dist=2136),ENSG00000250829(dist=31377)	Na	Na	Na	Na	Na	Na	Het;A>T	55;5|3	Hom;A>T	249;0|8
N	N	-	4	188225167	188225171	TTGTC	T	indel	downstream	 	 	 	 	AC097652.1																		rs67210779	0.0666933	0	0	1	0	0	downstream	downstream	downstream	LOC339975	LOC339975	ENSG00000250658	Na	Na	Na	Na	Na	Na	Het;-TGTC	188;9|6	Hom;-TGTC	413;0|10
N	N	-	4	188365049	188365049	C	G	snp	ncRNA_exonic	 	 	 	 	AC093763.4																		rs11132452	0.345248	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC339975	LOC339975	ENSG00000251643	Na	Na	Na	Na	Na	Na	Het;C>G	106;11|7	Hom;C>G	405;0|15
N	N	-	4	188686872	188686872	C	T	snp	intergenic	 	 	 	 	ADAM20P3																		rs148330964	0.014377	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100506272(dist=93077),ZFP42(dist=230053)	LOC339975(dist=260105),ZFP42(dist=230053)	ENSG00000249162(dist=17519),ENSG00000213331(dist=204555)	Na	Na	Na	Na	Na	Na	Het;C>T	193;2|7	Hom;C>T	292;0|9
N	N	-	4	188687011	188687011	A	C	snp	intergenic	 	 	 	 	ADAM20P3																		rs9715824	0.300719	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100506272(dist=93216),ZFP42(dist=229914)	LOC339975(dist=260244),ZFP42(dist=229914)	ENSG00000249162(dist=17658),ENSG00000213331(dist=204416)	Na	Na	Na	Na	Na	Na	Het;A>C	1708;78|79	Hom;A>C	3533;0|133
N	N	-	4	188687048	188687049	CA	C	indel	intergenic	 	 	 	 	ADAM20P3																		rs111267606	0.302915	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100506272(dist=93253),ZFP42(dist=229876)	LOC339975(dist=260281),ZFP42(dist=229876)	ENSG00000249162(dist=17695),ENSG00000213331(dist=204378)	Na	Na	Na	Na	Na	Na	Het;-A	1877;95|83	Hom;-A	3940;7|164
N	N	-	4	188687155	188687155	A	G	snp	intergenic	 	 	 	 	ADAM20P3																		rs4419522	0.271166	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100506272(dist=93360),ZFP42(dist=229770)	LOC339975(dist=260388),ZFP42(dist=229770)	ENSG00000249162(dist=17802),ENSG00000213331(dist=204272)	Na	Na	Na	Na	Na	Na	Het;A>G	533;13|21	Hom;A>G	1122;0|40
N	N	-	4	188968729	188968729	C	A	snp	intergenic	 	 	 	 	ZFP42	Zfp42	ENSG00000179059	ZFP42 zinc finger protein	chr4:188916925-188926204			Mice homozygous for one knock-out allele exhibit premature age-related male germ cell loss, abnormal sperm morphology, and mild testicular atrophy.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008584;male gonad development;IEP|GO:0008585;female gonad development;IEP|GO:0051321;meiotic cell cycle;NAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP42			https://www.ncbi.nlm.nih.gov/omim/?term=614572	http://www.informatics.jax.org/searchtool/Search.do?query=ZFP42&submit=Quick%0D%14284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP42	rs28396493	0.126797	0	0	1	0	0	intergenic	intergenic	intergenic	ZFP42(dist=42526),TRIML2(dist=43697)	ZFP42(dist=42530),TRIML2(dist=43698)	ENSG00000179059(dist=42525),ENSG00000179046(dist=43698)	Na	Na	Na	Na	Na	Na	Het;C>A	863;67|48	Hom;C>A	2132;0|85
N	N	-	4	189012456	189012456	C	T	snp	UTR3	*71G>A	 	 	 	TRIML2	Triml2	ENSG00000179046	tripartite motif family like 2	chr4:189012427-189030757	This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]		 		GO:0010033;response to organic substance;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032526;response to retinoic acid;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIML2				http://www.informatics.jax.org/searchtool/Search.do?query=TRIML2&submit=Quick%0D%14279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIML2	rs2279548	0.243011	0	0	1	0	0	UTR3	UTR3	UTR3	TRIML2(NM_001303419:c.*71G>A,NM_173553:c.*71G>A)	TRIML2(uc003izj.1:c.*71G>A,uc003izk.1:c.*71G>A,uc003izl.2:c.*71G>A,uc011cle.1:c.*71G>A)	ENSG00000179046(ENST00000512729:c.*71G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	239;22|8	Hom;C>T	782;0|18
N	N	-	4	189012458	189012458	C	A	snp	UTR3	*69G>T	 	 	 	TRIML2	Triml2	ENSG00000179046	tripartite motif family like 2	chr4:189012427-189030757	This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]		 		GO:0010033;response to organic substance;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032526;response to retinoic acid;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIML2				http://www.informatics.jax.org/searchtool/Search.do?query=TRIML2&submit=Quick%0D%14279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIML2	rs2279549	0.243011	0	0	1	0	0	UTR3	UTR3	UTR3	TRIML2(NM_001303419:c.*69G>T,NM_173553:c.*69G>T)	TRIML2(uc003izj.1:c.*69G>T,uc003izk.1:c.*69G>T,uc003izl.2:c.*69G>T,uc011cle.1:c.*69G>T)	ENSG00000179046(ENST00000512729:c.*69G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	239;23|8	Hom;C>A	782;0|18
N	N	-	4	189012728	189012728	G	C	snp	synonymous SNV	C447G	G149G	aliphatic,neutral	aliphatic,neutral	TRIML2	Triml2	ENSG00000179046	tripartite motif family like 2	chr4:189012427-189030757	This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]		 		GO:0010033;response to organic substance;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032526;response to retinoic acid;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIML2				http://www.informatics.jax.org/searchtool/Search.do?query=TRIML2&submit=Quick%0D%14279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIML2	rs2279550	0.71246	0.5608	0.5575	1	0	0	exonic	exonic	exonic	TRIML2	TRIML2	ENSG00000179046	synonymous SNV	synonymous SNV	unknown	TRIML2:NM_001303419:exon8:c.C1188G:p.G396G,TRIML2:NM_173553:exon7:c.C1113G:p.G371G,	TRIML2:uc003izj.1:exon5:c.C447G:p.G149G,TRIML2:uc003izk.1:exon4:c.C387G:p.G129G,TRIML2:uc011cle.1:exon8:c.C1188G:p.G396G,TRIML2:uc003izl.2:exon7:c.C963G:p.G321G,	UNKNOWN	Het;G>C	1770;105|79	Hom;G>C	3956;0|133
N	N	-	4	189012809	189012809	C	T	snp	synonymous SNV	G366A	S122S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TRIML2	Triml2	ENSG00000179046	tripartite motif family like 2	chr4:189012427-189030757	This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]		 		GO:0010033;response to organic substance;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032526;response to retinoic acid;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIML2				http://www.informatics.jax.org/searchtool/Search.do?query=TRIML2&submit=Quick%0D%14279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIML2	rs2279551	0.161142	0.0457	0.1038	1	0	0	exonic	exonic	exonic	TRIML2	TRIML2	ENSG00000179046	synonymous SNV	synonymous SNV	unknown	TRIML2:NM_001303419:exon8:c.G1107A:p.S369S,TRIML2:NM_173553:exon7:c.G1032A:p.S344S,	TRIML2:uc003izj.1:exon5:c.G366A:p.S122S,TRIML2:uc003izk.1:exon4:c.G306A:p.S102S,TRIML2:uc011cle.1:exon8:c.G1107A:p.S369S,TRIML2:uc003izl.2:exon7:c.G882A:p.S294S,	UNKNOWN	Het;C>T	2505;127|113	Hom;C>T	5435;2|200
N	N	-	4	189018117	189018117	G	T	snp	intronic	 	 	 	 	TRIML2	Triml2	ENSG00000179046	tripartite motif family like 2	chr4:189012427-189030757	This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]		 		GO:0010033;response to organic substance;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032526;response to retinoic acid;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIML2				http://www.informatics.jax.org/searchtool/Search.do?query=TRIML2&submit=Quick%0D%14279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIML2	rs12500011	0.197883	0	0	1	0	0	intronic	intronic	intronic	TRIML2	TRIML2	ENSG00000179046	Na	Na	Na	Na	Na	Na	Het;G>T	173;7|8	Hom;G>T	153;0|5
N	N	-	4	189018613	189018613	A	G	snp	intronic	 	 	 	 	TRIML2	Triml2	ENSG00000179046	tripartite motif family like 2	chr4:189012427-189030757	This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]		 		GO:0010033;response to organic substance;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032526;response to retinoic acid;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIML2				http://www.informatics.jax.org/searchtool/Search.do?query=TRIML2&submit=Quick%0D%14279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIML2	rs10004012	0.282348	0	0	1	0	0	intronic	intronic	intronic	TRIML2	TRIML2	ENSG00000179046	Na	Na	Na	Na	Na	Na	Het;A>G	492;20|19	Hom;A>G	933;0|32
N	N	-	4	189022324	189022324	C	T	snp	synonymous SNV	G366A	Q122Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TRIML2	Triml2	ENSG00000179046	tripartite motif family like 2	chr4:189012427-189030757	This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]		 		GO:0010033;response to organic substance;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032526;response to retinoic acid;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIML2				http://www.informatics.jax.org/searchtool/Search.do?query=TRIML2&submit=Quick%0D%14279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIML2	rs79698746	0.201278	0.0835	0.1153	1	0	0	exonic	exonic	exonic	TRIML2	TRIML2	ENSG00000179046	synonymous SNV	synonymous SNV	unknown	TRIML2:NM_001303419:exon3:c.G366A:p.Q122Q,TRIML2:NM_173553:exon3:c.G366A:p.Q122Q,	TRIML2:uc011clf.1:exon4:c.G366A:p.Q122Q,TRIML2:uc011cle.1:exon3:c.G366A:p.Q122Q,TRIML2:uc003izl.2:exon3:c.G216A:p.Q72Q,	UNKNOWN	Het;C>T	959;51|47	Hom;C>T	3181;0|119
N	N	-	4	189168519	189168519	C	T	snp	intergenic	 	 	 	 	LINC02434																		rs12504901	0.444489	0	0	1	0	0	intergenic	intergenic	intergenic	TRIML1(dist=99870),LINC01060(dist=208213)	TRIML1(dist=99870),LOC401164(dist=153371)	ENSG00000248370(dist=86226),ENSG00000242169(dist=102011)	Na	Na	Na	Na	Na	Na	Het;C>T	71;14|5	Hom;C>T	261;0|10
N	N	-	4	189267822	189267822	G	T	snp	intergenic	 	 	 	 	LINC02434																		rs13125602	0.236621	0	0	1	0	0	intergenic	intergenic	intergenic	TRIML1(dist=199173),LINC01060(dist=108910)	TRIML1(dist=199173),LOC401164(dist=54068)	ENSG00000248370(dist=185529),ENSG00000242169(dist=2708)	Na	Na	Na	Na	Na	Na	Het;G>T	1337;42|62	Hom;G>T	2900;1|112
N	N	-	4	189267841	189267842	AT	A	indel	intergenic	 	 	 	 	LINC02434																		rs34068320	0.253994	0	0	1	0	0	intergenic	intergenic	intergenic	TRIML1(dist=199192),LINC01060(dist=108890)	TRIML1(dist=199192),LOC401164(dist=54048)	ENSG00000248370(dist=185548),ENSG00000242169(dist=2688)	Na	Na	Na	Na	Na	Na	Het;-T	767;17|41	Hom;-T	1116;4|53
N	N	-	4	189659608	189659608	A	G	snp	ncRNA_exonic	 	 	 	 	AC093909.1																		rs1461777	0.826478	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01060(dist=136546),LINC01262(dist=921152)	LOC401164(dist=136546),BC087857(dist=1125006)	ENSG00000180015	Na	Na	Na	Na	Na	Na	Het;A>G	142;35|10	Hom;A>G	958;0|29
N	N	-	4	190544203	190544203	G	T	snp	intergenic	 	 	 	 	HSP90AA4P																		rs2076839	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1021141),LINC01262(dist=36557)	LOC401164(dist=1021141),BC087857(dist=240411)	ENSG00000205100(dist=147857),ENSG00000250739(dist=36556)	Na	Na	Na	Na	Na	Na	Het;G>T	344;2|9	Hom;G>T	287;0|7
N	N	-	4	190544219	190544219	T	G	snp	intergenic	 	 	 	 	HSP90AA4P																		rs2257354	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1021157),LINC01262(dist=36541)	LOC401164(dist=1021157),BC087857(dist=240395)	ENSG00000205100(dist=147873),ENSG00000250739(dist=36540)	Na	Na	Na	Na	Na	Na	Het;T>G	383;3|10	Hom;T>G	332;0|8
N	N	-	4	190544230	190544230	C	G	snp	intergenic	 	 	 	 	HSP90AA4P																		rs2443223	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1021168),LINC01262(dist=36530)	LOC401164(dist=1021168),BC087857(dist=240384)	ENSG00000205100(dist=147884),ENSG00000250739(dist=36529)	Na	Na	Na	Na	Na	Na	Het;C>G	383;3|10	Hom;C>G	332;0|8
N	N	-	4	190544280	190544280	C	G	snp	intergenic	 	 	 	 	HSP90AA4P																		rs1810725	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1021218),LINC01262(dist=36480)	LOC401164(dist=1021218),BC087857(dist=240334)	ENSG00000205100(dist=147934),ENSG00000250739(dist=36479)	Na	Na	Na	Na	Na	Na	Het;C>G	554;2|14	Hom;C>G	332;0|8
N	N	-	4	190544295	190544295	T	TCACACTC	indel	intergenic	 	 	 	 	HSP90AA4P																		rs761883285	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1021233),LINC01262(dist=36465)	LOC401164(dist=1021233),BC087857(dist=240319)	ENSG00000205100(dist=147949),ENSG00000250739(dist=36464)	Na	Na	Na	Na	Na	Na	Het;+CACACTC	551;1|14	Hom;+CACACTC	188;0|5
N	N	-	4	190544299	190544300	TC	T	indel	intergenic	 	 	 	 	HSP90AA4P																		rs33912339	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1021237),LINC01262(dist=36460)	LOC401164(dist=1021237),BC087857(dist=240314)	ENSG00000205100(dist=147953),ENSG00000250739(dist=36459)	Na	Na	Na	Na	Na	Na	Het;-C	508;1|13	Hom;-C	188;0|5
N	N	-	4	190558620	190558620	C	T	snp	intergenic	 	 	 	 	HSP90AA4P																		rs2598672	0.369209	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1035558),LINC01262(dist=22140)	LOC401164(dist=1035558),BC087857(dist=225994)	ENSG00000205100(dist=162274),ENSG00000250739(dist=22139)	Na	Na	Na	Na	Na	Na	Het;C>T	134;2|4	Hom;C>T	66;0|3
N	N	-	4	190558634	190558634	G	GAA	indel	intergenic	 	 	 	 	HSP90AA4P																		rs10630002	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1035572),LINC01262(dist=22126)	LOC401164(dist=1035572),BC087857(dist=225980)	ENSG00000205100(dist=162288),ENSG00000250739(dist=22125)	Na	Na	Na	Na	Na	Na	Het;+AA	125;2|4	Hom;+AA	57;0|3
N	N	-	4	190567775	190567775	T	A	snp	intergenic	 	 	 	 	HSP90AA4P																		rs67613151	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01060(dist=1044713),LINC01262(dist=12985)	LOC401164(dist=1044713),BC087857(dist=216839)	ENSG00000205100(dist=171429),ENSG00000250739(dist=12984)	Na	Na	Na	Na	Na	Na	Het;T>A	92;2|3	Hom;T>A	242;0|6
N	N	-	4	190580566	190580566	G	A	snp	upstream	 	 	 	 	LINC01262																		rs74554780	0	0	0	1	0	0	upstream	intergenic	upstream	LINC01262	LOC401164(dist=1057504),BC087857(dist=204048)	ENSG00000250739	Na	Na	Na	Na	Na	Na	Het;G>A	119;2|6	Hom;G>A	92;0|4
N	N	-	4	190581442	190581442	T	G	snp	ncRNA_intronic	 	 	 	 	LINC01262																		rs5006530	0	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01262	LOC401164(dist=1058380),BC087857(dist=203172)	ENSG00000250739	Na	Na	Na	Na	Na	Na	Het;T>G	390;5|12	Hom;T>G	499;0|14
N	N	-	4	190581489	190581489	C	G	snp	ncRNA_intronic	 	 	 	 	LINC01262																		rs5006529	0	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01262	LOC401164(dist=1058427),BC087857(dist=203125)	ENSG00000250739	Na	Na	Na	Na	Na	Na	Het;C>G	111;3|4	Hom;C>G	172;0|5
N	N	-	4	190585682	190585682	G	A	snp	intergenic	 	 	 	 	LINC01262																		rs9312412	0.000599042	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01262(dist=3042),FRG1(dist=276292)	LOC401164(dist=1062620),BC087857(dist=198932)	ENSG00000250739(dist=3042),ENSG00000272566(dist=39353)	Na	Na	Na	Na	Na	Na	Het;G>A	45;1|3	Hom;G>A	106;0|5
N	N	-	4	190598849	190598849	A	G	snp	intergenic	 	 	 	 	LINC01262																		rs6553348	0.97484	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01262(dist=16209),FRG1(dist=263125)	LOC401164(dist=1075787),BC087857(dist=185765)	ENSG00000250739(dist=16209),ENSG00000272566(dist=26186)	Na	Na	Na	Na	Na	Na	Het;A>G	136;1|4	Hom;A>G	134;0|4
N	N	-	4	190598994	190598994	T	C	snp	intergenic	 	 	 	 	LINC01262																		rs34226472	0.495407	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01262(dist=16354),FRG1(dist=262980)	LOC401164(dist=1075932),BC087857(dist=185620)	ENSG00000250739(dist=16354),ENSG00000272566(dist=26041)	Na	Na	Na	Na	Na	Na	Het;T>C	3750;15|105	Hom;T>C	6337;0|144
N	N	-	4	190901067	190901067	A	G	snp	ncRNA_exonic	 	 	 	 	AF146191.1																		rs75787339	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FRG1(dist=16708),FRG2(dist=44456)	FRG1(dist=16708),TUBB4Q(dist=2609)	ENSG00000271307	Na	Na	Na	Na	Na	Na	Het;A>G	32;8|2	Hom;A>G	152;0|4
N	N	-	4	190901077	190901077	C	A	snp	ncRNA_exonic	 	 	 	 	AF146191.1																		rs78095872	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FRG1(dist=16718),FRG2(dist=44446)	FRG1(dist=16718),TUBB4Q(dist=2599)	ENSG00000271307	Na	Na	Na	Na	Na	Na	Het;C>A	32;8|2	Hom;C>A	152;0|4
N	N	-	4	191024377	191024377	A	G	snp	intergenic	 	 	 	 	ENSG00000259128																		rs28539916	0.676917	0	0	1	0	0	intergenic	intergenic	intergenic	DBET(dist=35358),NONE(dist=NONE)	DUX2(dist=10935),NONE(dist=NONE)	ENSG00000259128(dist=10658),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>G	2094;28|91	Hom;A>G	1738;0|66
N	N	-	4	195709	195709	A	C	snp	ncRNA_exonic	 	 	 	 	AC108475.1																		rs6599313	0.414337	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NONE(dist=NONE),ZNF876P(dist=10680)	NONE(dist=NONE),ZNF876P(dist=10680)	ENSG00000250892	Na	Na	Na	Na	Na	Na	Het;A>C	1361;75|60	Hom;A>C	3342;1|120
N	N	-	4	20733891	20733891	A	C	snp	intronic	 	 	 	 	KCNIP4	Kcnip4	ENSG00000281758	potassium voltage-gated channel interacting protein 4	chr4:20730239-21950422	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Hypertrophy, Left Ventricular; Brain; Stroke; Exercise Test; Natriuretic Peptide, Brain; Tobacco Use Disorder; Breath Tests; Body Mass Index; Cholesterol, LDL; Attention Deficit Disorder with Hyperactivity; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lipids; Triglycerides; Body Weight Changes; Suicidal Ideation; Hemoglobin A, Glycosylated; Erythrocytes; Blood Pressure Determination; Cholesterol; Brain Ischemia|Stroke; Celiac Disease|; Echocardiography	 					http://www.genecards.org/index.php?path=/Search/keyword/KCNIP4			https://www.ncbi.nlm.nih.gov/omim/?term=608182	http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP4&submit=Quick%0D%22333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP4	rs34741188	0.236022	0	0	1	0	0	intronic	intronic	intronic	KCNIP4	KCNIP4	ENSG00000163138,ENSG00000185774	Na	Na	Na	Na	Na	Na	Het;A>C	1879;95|87	Hom;A>C	5850;2|200
N	N	-	4	20754280	20754280	T	C	snp	UTR3	*149T>C	 	 	 	PACRGL	Pacrgl	ENSG00000163138	parkin coregulated like	chr4:20697905-20754530			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PACRGL				http://www.informatics.jax.org/searchtool/Search.do?query=PACRGL&submit=Quick%0D%10889ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PACRGL	rs13147509	0.256989	0	0	1	0	0	intronic	intronic	UTR3	KCNIP4	KCNIP4	ENSG00000163138(ENST00000471979:c.*149T>C,ENST00000506702:c.*149T>C,ENST00000507634:c.*149T>C,ENST00000467997:c.*149T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1774;66|79	Hom;T>C	3512;0|122
N	N	-	4	20806315	20806315	A	G	snp	intronic	 	 	 	 	KCNIP4	Kcnip4	ENSG00000281758	potassium voltage-gated channel interacting protein 4	chr4:20730239-21950422	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Hypertrophy, Left Ventricular; Brain; Stroke; Exercise Test; Natriuretic Peptide, Brain; Tobacco Use Disorder; Breath Tests; Body Mass Index; Cholesterol, LDL; Attention Deficit Disorder with Hyperactivity; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lipids; Triglycerides; Body Weight Changes; Suicidal Ideation; Hemoglobin A, Glycosylated; Erythrocytes; Blood Pressure Determination; Cholesterol; Brain Ischemia|Stroke; Celiac Disease|; Echocardiography	 					http://www.genecards.org/index.php?path=/Search/keyword/KCNIP4			https://www.ncbi.nlm.nih.gov/omim/?term=608182	http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP4&submit=Quick%0D%22333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP4	rs11940825	0.528155	0	0	1	0	0	intronic	intronic	intronic	KCNIP4	KCNIP4	ENSG00000185774	Na	Na	Na	Na	Na	Na	Het;A>G	93;2|5	Hom;A>G	148;0|7
N	N	-	4	21405629	21405629	C	G	snp	intronic	 	 	 	 	KCNIP4	Kcnip4	ENSG00000281758	potassium voltage-gated channel interacting protein 4	chr4:20730239-21950422	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis; Hypertrophy, Left Ventricular; Brain; Stroke; Exercise Test; Natriuretic Peptide, Brain; Tobacco Use Disorder; Breath Tests; Body Mass Index; Cholesterol, LDL; Attention Deficit Disorder with Hyperactivity; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lipids; Triglycerides; Body Weight Changes; Suicidal Ideation; Hemoglobin A, Glycosylated; Erythrocytes; Blood Pressure Determination; Cholesterol; Brain Ischemia|Stroke; Celiac Disease|; Echocardiography	 					http://www.genecards.org/index.php?path=/Search/keyword/KCNIP4			https://www.ncbi.nlm.nih.gov/omim/?term=608182	http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP4&submit=Quick%0D%22333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP4	rs1587120	0.621605	0	0	1	0	0	intronic	intronic	intronic	KCNIP4	KCNIP4	ENSG00000185774	Na	Na	Na	Na	Na	Na	Het;C>G	116;4|4	Hom;C>G	476;0|13
N	N	-	4	2275145	2275145	G	A	snp	intronic	 	 	 	 	ZFYVE28	Zfyve28	ENSG00000159733	zinc finger FYVE-type containing 28	chr4:2271309-2420390		Tobacco Use Disorder; Respiratory Function Tests; Body Fat Distribution	Mice homozygous for a knock-out allele exhibit normal kidney morphology and function.		GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;IMP|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0031901;early endosome membrane;IDA	GO:0005515;protein binding;IPI|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE28			https://www.ncbi.nlm.nih.gov/omim/?term=614176	http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE28&submit=Quick%0D%10369ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE28	rs736455	0.35603	0	0	1	0	0	intronic	intronic	intronic	ZFYVE28	ZFYVE28	ENSG00000159733	Na	Na	Na	Na	Na	Na	Het;G>A	293;1|9	Hom;G>A	287;0|9
N	N	-	4	23671235	23671235	C	T	snp	ncRNA_intronic	 	 	 	 	AC093607.1																		rs10032003	0.640775	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR548AJ2(dist=206509),PPARGC1A(dist=122409)	MIR548AJ2(dist=206509),PPARGC1A(dist=122409)	ENSG00000250137	Na	Na	Na	Na	Na	Na	Het;C>T	242;3|9	Hom;C>T	240;0|9
N	N	-	4	23886323	23886323	G	T	snp	synonymous SNV	C286A	R96R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PPARGC1A	Ppargc1a	ENSG00000109819	PPARG coactivator 1 alpha	chr4:23756664-23905712	The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]	Narcolepsy; Birth Weight; Insulin Resistance|Obesity|Weight Loss; elite atheletes; bipolar disorder schizophrenia; Coronary Artery Disease|Metabolic Syndrome X; Diabetes Mellitus, Experimental|Diabetes Mellitus, Type 2; colorectal cancer; body mass diabetes, type 2 glucose tolerance insulin; Hypertension; alcohol; breast cancer ; Diabetes Mellitus, Type 2|Hypertriglyceridemia|Insulin Resistance; Sarcoidosis; null; healthy oldest-old; Fatty Liver|Metabolic Syndrome X; Heart Failure; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; obesity; Thyrotropin; Fatty Liver; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; metabolic syndrome; Insulin Resistance|Metabolic Syndrome X; elite runners; elite rowing; Monocytes; insulin sensitivity; insulin resistance; Glomerulonephritis, IGA; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 2; insulin; lipids; obesity; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; body mass; insulin; lipids; left ventricular hypertrophy; glucose; blood pressure, arterial; metabolic syndrome; Type 2 diabetes; Diabetes Mellitus, Type 2; bone density; Cardiovascular Diseases|Diabetes Mellitus|Diabetes Mellitus, Type 2|Diabetic Angiopathies|DNA Damage; altered lipid oxidation and early insulin secretion; hypertension; insulin; breast cancer; Bulimia; endurance performance; physical performance; diabetes, type 2; hypertension; esophageal adenocarcinoma; Type II diabetes; Cardiovascular Diseases|Obesity|Overweight; BMI; Glycogen Storage Disease Type V; Heart Rate; diabetes, gestational; body mass diabetes, type 2; Type 2 Diabetes| edema | rosiglitazone; insulin resistance; glucose tolerance; insulin; lipids; polycystic ovary syndrome; aerobic fitness insulin; Alzheimer's disease ; Lipoproteins; prostate cancer; Kidney Failure, Chronic; blood pressure, arterial body mass hypertension, ocular insulin metabolic syndrome; intima media thickness; atherosclerosis; normal variation; Myocardial Infarction; Alkaline Phosphatase; Blood Pressure; plasma HDL cholesterol (HDL-C) levels; Stroke; diabetes, type 2; elite endurance; Platelet Count; longevity; Bone Mineral Density; cardiomyopathy hypertension left ventricular hypertrophy; Ventricular Dysfunction, Left; body fat diabetes, type 2	Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping.	Circadian Clock	GO:0000302;response to reactive oxygen species;IEA|GO:0000422;mitophagy;IEA|GO:0001659;temperature homeostasis;TAS|GO:0001666;response to hypoxia;IEA|GO:0001678;cellular glucose homeostasis;NAS|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0002021;response to dietary excess;IEA|GO:0002931;response to ischemia;IEA|GO:0006012;galactose metabolic process;IEA|GO:0006094;gluconeogenesis;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006397;mRNA processing;TAS|GO:0006461;protein complex assembly;TAS|GO:0007005;mitochondrion organization;TAS|GO:0007568;aging;IEA|GO:0007586;digestion;TAS|GO:0007623;circadian rhythm;TAS|GO:0008209;androgen metabolic process;IEA|GO:0008380;RNA splicing;TAS|GO:0009409;response to cold;IEA|GO:0009750;response to fructose;IEA|GO:0010822;positive regulation of mitochondrion organization;IMP|GO:0014070;response to organic cyclic compound;IEA|GO:0014732;skeletal muscle atrophy;IEA|GO:0014823;response to activity;IEA|GO:0014850;response to muscle activity;ISS|GO:0014878;response to electrical stimulus involved in regulation of muscle adaptation;IEA|GO:0014912;negative regulation of smooth muscle cell migration;IEA|GO:0019395;fatty acid oxidation;NAS|GO:0021549;cerebellum development;IEA|GO:0022904;respiratory electron transport chain;ISS|GO:0030521;androgen receptor signaling pathway;NAS|GO:0030900;forebrain development;IEA|GO:0031325;positive regulation of cellular metabolic process;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0034599;cellular response to oxidative stress;ISS|GO:0035066;positive regulation of histone acetylation;TAS|GO:0035865;cellular response to potassium ion;IEA|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;NAS|GO:0042752;regulation of circadian rhythm;ISS|GO:0043201;response to leucine;IEA|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0045333;cellular respiration;TAS|GO:0045722;positive regulation of gluconeogenesis;TAS|GO:0045820;negative regulation of glycolytic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046321;positive regulation of fatty acid oxidation;TAS|GO:0048511;rhythmic process;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0050821;protein stabilization;TAS|GO:0050873;brown fat cell differentiation;TAS|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051552;flavone metabolic process;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0060612;adipose tissue development;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071250;cellular response to nitrite;IEA|GO:0071313;cellular response to caffeine;IEA|GO:0071332;cellular response to fructose stimulus;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IEA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071871;response to epinephrine;IEA|GO:0071873;response to norepinephrine;IEA|GO:0090258;negative regulation of mitochondrial fission;IEA|GO:0097066;response to thyroid hormone;IEA|GO:0097067;cellular response to thyroid hormone stimulus;IEA|GO:1901215;negative regulation of neuron death;IGI|GO:1901558;response to metformin;IEA|GO:1901857;positive regulation of cellular respiration;IEA|GO:1901860;positive regulation of mitochondrial DNA metabolic process;IEA|GO:1901863;positive regulation of muscle tissue development;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:1904635;positive regulation of glomerular visceral epithelial cell apoptotic process;IEA|GO:1904637;cellular response to ionomycin;IEA|GO:1904639;cellular response to resveratrol;IEA|GO:1904640;response to methionine;IEA|GO:1990845;adaptive thermogenesis;IEA|GO:2000184;positive regulation of progesterone biosynthetic process;IEA|GO:2000272;negative regulation of receptor activity;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000507;positive regulation of energy homeostasis;ISS|GO:2001171;positive regulation of ATP biosynthetic process;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005665;DNA-directed RNA polymerase II, core complex;TAS|GO:0005719;nuclear euchromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0016605;PML body;IEA|GO:0022626;cytosolic ribosome;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0097440;apical dendrite;IEA|GO:1990843;subsarcolemmal mitochondrion;IEA|GO:1990844;interfibrillar mitochondrion;IEA	GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003682;chromatin binding;IEA|GO:0003712;transcription cofactor activity;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003723;RNA binding;IEA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;TAS|GO:0016922;ligand-dependent nuclear receptor binding;IPI|GO:0030331;estrogen receptor binding;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0031490;chromatin DNA binding;ISS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042975;peroxisome proliferator activated receptor binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0043565;sequence-specific DNA binding;IDA|GO:0050681;androgen receptor binding;NAS|GO:1990841;promoter-specific chromatin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPARGC1A	https://www.uniprot.org/uniprot/Q9UBK2	https://hpo.jax.org/app/browse/search?q=PPARGC1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604517	http://www.informatics.jax.org/searchtool/Search.do?query=PPARGC1A&submit=Quick%0D%3890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPARGC1A	rs2946385	0.383586	0.4351	0.3865	1	0	0	intronic	exonic	exonic	PPARGC1A	PPARGC1A	ENSG00000109819	Na	synonymous SNV	unknown	Na	PPARGC1A:uc003gqu.4:exon2:c.C286A:p.R96R,	UNKNOWN	Het;G>T	279;8|10	Hom;G>T	482;0|17
N	N	-	4	2452791	2452792	AC	A	indel	intronic	 	 	 	 	CFAP99	Cfap99																	rs398082821	0.21905	0	0.2123	1	0	0	intronic	intronic	intronic	CFAP99	LOC402160	ENSG00000249428	Na	Na	Na	Na	Na	Na	Het;-C	782;37|29	Hom;-C	1713;0|51
N	N	-	4	247825	247825	G	A	snp	ncRNA_exonic	 	 	 	 	ZNF876P																		rs10028482	0.291534	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	ZNF876P	ZNF876P(uc010iba.4:c.-207G>A)	ENSG00000198155	Na	Na	Na	Na	Na	Na	Het;G>A	57;4|3	Hom;G>A	239;0|9
N	N	-	4	249430	249430	G	T	snp	ncRNA_exonic	 	 	 	 	ZNF876P																		rs6857106	0.278155	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ZNF876P	ZNF876P(uc010iba.4:c.*787G>T)	ENSG00000198155	Na	Na	Na	Na	Na	Na	Het;G>T	762;42|35	Hom;G>T	2144;0|76
N	N	-	4	24959747	24959747	T	A	snp	intronic	 	 	 	 	CCDC149	Ccdc149	ENSG00000181982	coiled-coil domain containing 149	chr4:24807739-24981826		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC149				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC149&submit=Quick%0D%14700ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC149	rs7697533	0.257588	0	0	1	0	0	intronic	intronic	intronic	CCDC149	CCDC149	ENSG00000181982	Na	Na	Na	Na	Na	Na	Het;T>A	260;16|14	Hom;T>A	840;0|32
N	N	-	4	25278988	25278988	T	C	snp	UTR3	*179T>C	 	 	 	PI4K2B	Pi4k2b	ENSG00000038210	phosphatidylinositol 4-kinase type 2 beta	chr4:25162263-25280714	Phosphatidylinositol 4-kinases (PI4Ks) phosphorylate phosphatidylinositol to generate phosphatidylinositol 4-phosphate (PIP), an immediate precursor of several important signaling and scaffolding molecules. PIP itself may also have direct functional and structural roles. PI4K2B is a primarily cytosolic PI4K that is recruited to membranes, where it stimulates phosphatidylinositol 4,5-bisphosphate synthesis (Wei et al., 2002 [PubMed 12324459]).[supplied by OMIM, Jun 2008]	Bipolar Disorder	 	Synthesis of PIPs at the early endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007030;Golgi organization;IBA|GO:0007032;endosome organization;IBA|GO:0016310;phosphorylation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PI4K2B	https://www.uniprot.org/uniprot/Q8TCG2		https://www.ncbi.nlm.nih.gov/omim/?term=612101	http://www.informatics.jax.org/searchtool/Search.do?query=PI4K2B&submit=Quick%0D%797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4K2B	rs3796780	0.324481	0	0	1	0	0	UTR3	UTR3	UTR3	PI4K2B(NM_018323:c.*179T>C)	PI4K2B(uc011bxs.2:c.*179T>C,uc003grk.2:c.*179T>C)	ENSG00000038210(ENST00000264864:c.*179T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1347;75|64	Hom;T>C	2928;0|104
N	N	-	4	25279508	25279508	G	A	snp	UTR3	*699G>A	 	 	 	PI4K2B	Pi4k2b	ENSG00000038210	phosphatidylinositol 4-kinase type 2 beta	chr4:25162263-25280714	Phosphatidylinositol 4-kinases (PI4Ks) phosphorylate phosphatidylinositol to generate phosphatidylinositol 4-phosphate (PIP), an immediate precursor of several important signaling and scaffolding molecules. PIP itself may also have direct functional and structural roles. PI4K2B is a primarily cytosolic PI4K that is recruited to membranes, where it stimulates phosphatidylinositol 4,5-bisphosphate synthesis (Wei et al., 2002 [PubMed 12324459]).[supplied by OMIM, Jun 2008]	Bipolar Disorder	 	Synthesis of PIPs at the early endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007030;Golgi organization;IBA|GO:0007032;endosome organization;IBA|GO:0016310;phosphorylation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PI4K2B	https://www.uniprot.org/uniprot/Q8TCG2		https://www.ncbi.nlm.nih.gov/omim/?term=612101	http://www.informatics.jax.org/searchtool/Search.do?query=PI4K2B&submit=Quick%0D%797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4K2B	rs11544126	0.324281	0	0	1	0	0	UTR3	UTR3	UTR3	PI4K2B(NM_018323:c.*699G>A)	PI4K2B(uc011bxs.2:c.*699G>A,uc003grk.2:c.*699G>A)	ENSG00000038210(ENST00000264864:c.*699G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1047;45|49	Hom;G>A	2213;0|78
N	N	-	4	25316815	25316815	T	C	snp	intronic	 	 	 	 	ZCCHC4	Zcchc4	ENSG00000168228	zinc finger CCHC-type containing 4	chr4:25314407-25372005			 		GO:0032259;methylation;IEA		GO:0003676;nucleic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC4			https://www.ncbi.nlm.nih.gov/omim/?term=611792	http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC4&submit=Quick%0D%12215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC4	rs12508686	0.42512	0	0	1	0	0	intronic	intronic	intronic	ZCCHC4	ZCCHC4	ENSG00000168228	Na	Na	Na	Na	Na	Na	Het;T>C	40;2|2	Hom;T>C	249;0|7
N	N	-	4	25363901	25363901	T	A	snp	nonsynonymous SNV	T1187A	L396H	aliphatic,hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	ZCCHC4	Zcchc4	ENSG00000168228	zinc finger CCHC-type containing 4	chr4:25314407-25372005			 		GO:0032259;methylation;IEA		GO:0003676;nucleic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC4			https://www.ncbi.nlm.nih.gov/omim/?term=611792	http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC4&submit=Quick%0D%12215ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC4	rs315675	0.876398	0.9196	0.8744	0.15	2	13	exonic	exonic	exonic	ZCCHC4	ZCCHC4	ENSG00000168228	nonsynonymous SNV	nonsynonymous SNV	unknown	ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H,	ZCCHC4:uc003grl.4:exon10:c.T1187A:p.L396H,	UNKNOWN	Het;T>A	1447;43|69	Hom;T>A	2006;2|80
N	N	-	4	25378719	25378719	C	T	snp	upstream	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs3822217	0.317292	0	0	1	0	0	upstream	upstream	upstream	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;C>T	63;1|5	Hom;C>T	107;0|5
N	N	-	4	25382216	25382216	C	G	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs315676	0.756989	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;C>G	274;9|9	Hom;C>G	369;0|10
N	N	-	4	25392728	25392728	G	A	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs2271389	0.323283	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;G>A	328;10|13	Hom;G>A	726;0|24
N	N	-	4	25393889	25393889	C	T	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs2292407	0.323283	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;C>T	168;11|6	Hom;C>T	629;0|20
N	N	-	4	25394078	25394078	A	G	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs2292408	0.323283	0.4352	0.4607	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;A>G	927;39|45	Hom;A>G	1951;0|73
N	N	-	4	25395674	25395674	C	A	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs17605267	0.323283	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;C>A	94;3|4	Hom;C>A	154;0|5
N	N	-	4	25404553	25404553	C	T	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs10023139	0.514976	0.5901	0.5729	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;C>T	607;47|32	Hom;C>T	2556;0|97
N	N	-	4	25408516	25408516	T	A	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs3214034	0.300919	0.4019	0.4569	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;T>A	247;27|15	Hom;T>A	890;0|36
N	N	-	4	25408724	25408724	A	G	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs28616687	0.300719	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;A>G	163;4|7	Hom;A>G	317;0|10
N	N	-	4	25411202	25411202	T	G	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs2305953	0.300919	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;T>G	178;6|6	Hom;T>G	261;0|7
N	N	-	4	25417244	25417244	C	T	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs3816587	0.455072	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;C>T	226;16|12	Hom;C>T	659;0|24
N	N	-	4	25418331	25418331	T	G	snp	intronic	 	 	 	 	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs1017716	0.435304	0	0	1	0	0	intronic	intronic	intronic	ANAPC4	ANAPC4	ENSG00000053900	Na	Na	Na	Na	Na	Na	Het;T>G	124;2|4	Hom;T>G	180;0|5
N	N	-	4	25419283	25419283	T	C	snp	synonymous SNV	T480C	F160F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	ANAPC4	Anapc4	ENSG00000053900	anaphase promoting complex subunit 4	chr4:25378835-25420120	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]	Hip; Leukocyte Count; Body Weight; Waist-Hip Ratio; Arthritis, Rheumatoid; Alkaline Phosphatase; Waist Circumference	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030071;regulation of mitotic metaphase/anaphase transition;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070979;protein K11-linked ubiquitination;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANAPC4	https://www.uniprot.org/uniprot/Q9UJX5		https://www.ncbi.nlm.nih.gov/omim/?term=606947	http://www.informatics.jax.org/searchtool/Search.do?query=ANAPC4&submit=Quick%0D%964ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANAPC4	rs9174	0.502396	0.6022	0.5540	1	0	0	exonic	exonic	exonic	ANAPC4	ANAPC4	ENSG00000053900	synonymous SNV	synonymous SNV	unknown	ANAPC4:NM_001286756:exon28:c.T2124C:p.F708F,ANAPC4:NM_013367:exon28:c.T2121C:p.F707F,	ANAPC4:uc003grq.3:exon6:c.T480C:p.F160F,ANAPC4:uc003grp.3:exon25:c.T1779C:p.F593F,ANAPC4:uc003gro.3:exon28:c.T2121C:p.F707F,	UNKNOWN	Het;T>C	1172;73|58	Hom;T>C	2908;2|109
N	N	-	4	26431386	26431386	A	G	snp	intronic	 	 	 	 	RBPJ	Rbpj	ENSG00000168214	recombination signal binding protein for immunoglobulin kappa J region	chr4:26165077-26436541	The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Fibrinogen; Tobacco Use Disorder; Celiac Disease|; Hepatopulmonary Syndrome|Liver Cirrhosis	Mice homozygous for a null allele exhibit complete prenatal lethality.	RUNX3 regulates NOTCH signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001525;angiogenesis;ISS|GO:0001756;somitogenesis;IEA|GO:0001837;epithelial to mesenchymal transition;ISS|GO:0001974;blood vessel remodeling;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003151;outflow tract morphogenesis;ISS|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;ISS|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:0003214;cardiac left ventricle morphogenesis;ISS|GO:0003222;ventricular trabecula myocardium morphogenesis;ISS|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;ISS|GO:0006310;DNA recombination;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IDA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0021983;pituitary gland development;IEA|GO:0030097;hemopoiesis;IEA|GO:0030182;neuron differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;ISS|GO:0030513;positive regulation of BMP signaling pathway;ISS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035912;dorsal aorta morphogenesis;ISS|GO:0036302;atrioventricular canal development;ISS|GO:0042127;regulation of cell proliferation;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048733;sebaceous gland development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0048844;artery morphogenesis;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060486;Clara cell differentiation;IEA|GO:0060716;labyrinthine layer blood vessel development;ISS|GO:0060844;arterial endothelial cell fate commitment;IEA|GO:0061314;Notch signaling involved in heart development;IC|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IDA|GO:0072554;blood vessel lumenization;ISS|GO:0072602;interleukin-4 secretion;IEA|GO:0097101;blood vessel endothelial cell fate specification;ISS|GO:1901186;positive regulation of ERBB signaling pathway;ISS|GO:1901189;positive regulation of ephrin receptor signaling pathway;ISS|GO:1901297;positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment;IEA|GO:2000138;positive regulation of cell proliferation involved in heart morphogenesis;ISS	GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0000150;recombinase activity;NAS|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0047485;protein N-terminus binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBPJ		https://hpo.jax.org/app/browse/search?q=RBPJ&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147183	http://www.informatics.jax.org/searchtool/Search.do?query=RBPJ&submit=Quick%0D%12213ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBPJ	rs946346	0.925719	0	0	1	0	0	intronic	intronic	intronic	RBPJ	RBPJ	ENSG00000168214	Na	Na	Na	Na	Na	Na	Het;A>G	121;2|4	Hom;A>G	221;0|6
N	N	-	4	26457487	26457487	T	G	snp	intergenic	 	 	 	 	RBPJ	Rbpj	ENSG00000168214	recombination signal binding protein for immunoglobulin kappa J region	chr4:26165077-26436541	The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Fibrinogen; Tobacco Use Disorder; Celiac Disease|; Hepatopulmonary Syndrome|Liver Cirrhosis	Mice homozygous for a null allele exhibit complete prenatal lethality.	RUNX3 regulates NOTCH signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001525;angiogenesis;ISS|GO:0001756;somitogenesis;IEA|GO:0001837;epithelial to mesenchymal transition;ISS|GO:0001974;blood vessel remodeling;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003151;outflow tract morphogenesis;ISS|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;ISS|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:0003214;cardiac left ventricle morphogenesis;ISS|GO:0003222;ventricular trabecula myocardium morphogenesis;ISS|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;ISS|GO:0006310;DNA recombination;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IDA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0021983;pituitary gland development;IEA|GO:0030097;hemopoiesis;IEA|GO:0030182;neuron differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;ISS|GO:0030513;positive regulation of BMP signaling pathway;ISS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035912;dorsal aorta morphogenesis;ISS|GO:0036302;atrioventricular canal development;ISS|GO:0042127;regulation of cell proliferation;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048733;sebaceous gland development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0048844;artery morphogenesis;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060486;Clara cell differentiation;IEA|GO:0060716;labyrinthine layer blood vessel development;ISS|GO:0060844;arterial endothelial cell fate commitment;IEA|GO:0061314;Notch signaling involved in heart development;IC|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IDA|GO:0072554;blood vessel lumenization;ISS|GO:0072602;interleukin-4 secretion;IEA|GO:0097101;blood vessel endothelial cell fate specification;ISS|GO:1901186;positive regulation of ERBB signaling pathway;ISS|GO:1901189;positive regulation of ephrin receptor signaling pathway;ISS|GO:1901297;positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment;IEA|GO:2000138;positive regulation of cell proliferation involved in heart morphogenesis;ISS	GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0000150;recombinase activity;NAS|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0047485;protein N-terminus binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBPJ		https://hpo.jax.org/app/browse/search?q=RBPJ&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147183	http://www.informatics.jax.org/searchtool/Search.do?query=RBPJ&submit=Quick%0D%12213ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBPJ	rs7691160	0.703874	0	0	1	0	0	intergenic	intergenic	intergenic	RBPJ(dist=20735),CCKAR(dist=25531)	RBPJ(dist=20735),CCKAR(dist=25531)	ENSG00000168214(dist=20946),ENSG00000163394(dist=25535)	Na	Na	Na	Na	Na	Na	Het;T>G	68;2|4	Hom;T>G	178;0|6
N	N	-	4	26457733	26457733	A	AT	indel	intergenic	 	 	 	 	RBPJ	Rbpj	ENSG00000168214	recombination signal binding protein for immunoglobulin kappa J region	chr4:26165077-26436541	The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Fibrinogen; Tobacco Use Disorder; Celiac Disease|; Hepatopulmonary Syndrome|Liver Cirrhosis	Mice homozygous for a null allele exhibit complete prenatal lethality.	RUNX3 regulates NOTCH signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001525;angiogenesis;ISS|GO:0001756;somitogenesis;IEA|GO:0001837;epithelial to mesenchymal transition;ISS|GO:0001974;blood vessel remodeling;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003151;outflow tract morphogenesis;ISS|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;ISS|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:0003214;cardiac left ventricle morphogenesis;ISS|GO:0003222;ventricular trabecula myocardium morphogenesis;ISS|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;ISS|GO:0006310;DNA recombination;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IDA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0021983;pituitary gland development;IEA|GO:0030097;hemopoiesis;IEA|GO:0030182;neuron differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;ISS|GO:0030513;positive regulation of BMP signaling pathway;ISS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035912;dorsal aorta morphogenesis;ISS|GO:0036302;atrioventricular canal development;ISS|GO:0042127;regulation of cell proliferation;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048733;sebaceous gland development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0048844;artery morphogenesis;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060486;Clara cell differentiation;IEA|GO:0060716;labyrinthine layer blood vessel development;ISS|GO:0060844;arterial endothelial cell fate commitment;IEA|GO:0061314;Notch signaling involved in heart development;IC|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IDA|GO:0072554;blood vessel lumenization;ISS|GO:0072602;interleukin-4 secretion;IEA|GO:0097101;blood vessel endothelial cell fate specification;ISS|GO:1901186;positive regulation of ERBB signaling pathway;ISS|GO:1901189;positive regulation of ephrin receptor signaling pathway;ISS|GO:1901297;positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment;IEA|GO:2000138;positive regulation of cell proliferation involved in heart morphogenesis;ISS	GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0000150;recombinase activity;NAS|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0047485;protein N-terminus binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBPJ		https://hpo.jax.org/app/browse/search?q=RBPJ&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147183	http://www.informatics.jax.org/searchtool/Search.do?query=RBPJ&submit=Quick%0D%12213ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBPJ	rs397740972	0.357029	0	0	1	0	0	intergenic	intergenic	intergenic	RBPJ(dist=20981),CCKAR(dist=25285)	RBPJ(dist=20981),CCKAR(dist=25285)	ENSG00000168214(dist=21192),ENSG00000163394(dist=25289)	Na	Na	Na	Na	Na	Na	Het;+T	131;26|12	Hom;+T	806;4|39
N	N	-	4	27004490	27004490	T	TA	indel	intronic	 	 	 	 	STIM2	Stim2	ENSG00000109689	stromal interaction molecule 2	chr4:26859300-27027003	This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009]	Neuroblastoma; Respiratory Function Tests; Blood Coagulation Factors; Coronary Disease; Waist Circumference; Tobacco Use Disorder; Body Height; Phospholipids; Parietal Lobe	Mice homozygous for a null allele exhibit a slight growth delay and premature death while embryonic fibroblasts show reduced store-operated Ca2+ influx. Mice homozygous for a different null allele show increased neuron survival under hypoxic conditions and resistance to ischemic brain injury.		GO:0002115;store-operated calcium entry;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IMP|GO:0032237;activation of store-operated calcium channel activity;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005246;calcium channel regulator activity;IMP|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STIM2	https://www.uniprot.org/uniprot/Q9P246		https://www.ncbi.nlm.nih.gov/omim/?term=610841	http://www.informatics.jax.org/searchtool/Search.do?query=STIM2&submit=Quick%0D%3875ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STIM2	rs397703934	0.408347	0	0	1	0	0	intronic	intronic	intronic	STIM2	STIM2	ENSG00000109689	Na	Na	Na	Na	Na	Na	Het;+A	77;7|7	Hom;+A	156;0|7
N	N	-	4	30521270	30521270	T	C	snp	intergenic	 	 	 	 	AC106868.1																		rs1512165	0.695887	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4275(dist=1699980),PCDH7(dist=200760)	MIR4275(dist=1699980),PCDH7(dist=200760)	ENSG00000248281(dist=511332),ENSG00000169851(dist=200767)	Na	Na	Na	Na	Na	Na	Het;T>C	457;15|22	Hom;T>C	867;0|35
N	N	-	4	30620996	30620996	T	C	snp	intergenic	 	 	 	 	AC106868.1																		rs7662157	0.821685	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4275(dist=1799706),PCDH7(dist=101034)	MIR4275(dist=1799706),PCDH7(dist=101034)	ENSG00000248281(dist=611058),ENSG00000169851(dist=101041)	Na	Na	Na	Na	Na	Na	Het;T>C	155;19|10	Hom;T>C	734;0|26
N	N	-	4	31313352	31313352	C	T	snp	intergenic	 	 	 	 	AC107394.1																		rs4566619	0.608027	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723778(dist=100056),LOC102723828(dist=685649)	PCDH7(dist=164929),NONE(dist=NONE)	ENSG00000251182(dist=100055),ENSG00000251434(dist=38554)	Na	Na	Na	Na	Na	Na	Het;C>T	211;19|13	Hom;C>T	427;0|17
N	N	-	4	31313414	31313414	A	G	snp	intergenic	 	 	 	 	AC107394.1																		rs4543074	0.423722	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723778(dist=100118),LOC102723828(dist=685587)	PCDH7(dist=164991),NONE(dist=NONE)	ENSG00000251182(dist=100117),ENSG00000251434(dist=38492)	Na	Na	Na	Na	Na	Na	Het;A>G	188;15|12	Hom;A>G	400;0|16
N	N	-	4	31363397	31363397	T	C	snp	intergenic	 	 	 	 	AC104071.1																		rs6814805	0.847244	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723778(dist=150101),LOC102723828(dist=635604)	PCDH7(dist=214974),NONE(dist=NONE)	ENSG00000251434(dist=10050),ENSG00000249882(dist=144891)	Na	Na	Na	Na	Na	Na	Het;T>C	80;19|6	Hom;T>C	488;0|18
N	N	-	4	32354819	32354819	C	A	snp	ncRNA_exonic	 	 	 	 	LINC02353																		rs6854086	0.636581	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC102723828(dist=197791),LOC101928622(dist=1543142)	PCDH7(dist=1206396),AK093205(dist=1538735)	ENSG00000251329	Na	Na	Na	Na	Na	Na	Het;C>A	636;32|31	Hom;C>A	2001;0|69
N	N	-	4	32354915	32354915	G	A	snp	downstream	 	 	 	 	LINC02353																		rs10001873	0.636581	0	0	1	0	0	intergenic	intergenic	downstream	LOC102723828(dist=197887),LOC101928622(dist=1543046)	PCDH7(dist=1206492),AK093205(dist=1538639)	ENSG00000251329	Na	Na	Na	Na	Na	Na	Het;G>A	162;1|6	Hom;G>A	287;0|9
N	N	-	4	32654310	32654311	TA	T	indel	intergenic	 	 	 	 	LINC02353																		rs144325142	0.30631	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723828(dist=497282),LOC101928622(dist=1243650)	PCDH7(dist=1505887),AK093205(dist=1239243)	ENSG00000251329(dist=299468),ENSG00000250076(dist=358259)	Na	Na	Na	Na	Na	Na	Het;-A	266;11|8	Hom;-A	188;0|5
N	N	-	4	32654322	32654322	T	G	snp	intergenic	 	 	 	 	LINC02353																		rs76555860	0.292332	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723828(dist=497294),LOC101928622(dist=1243639)	PCDH7(dist=1505899),AK093205(dist=1239232)	ENSG00000251329(dist=299480),ENSG00000250076(dist=358248)	Na	Na	Na	Na	Na	Na	Het;T>G	257;17|8	Hom;T>G	288;0|9
N	N	-	4	32654372	32654372	A	G	snp	intergenic	 	 	 	 	LINC02353																		rs55961759	0.30651	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723828(dist=497344),LOC101928622(dist=1243589)	PCDH7(dist=1505949),AK093205(dist=1239182)	ENSG00000251329(dist=299530),ENSG00000250076(dist=358198)	Na	Na	Na	Na	Na	Na	Het;A>G	234;25|14	Hom;A>G	426;0|17
N	N	-	4	32654458	32654458	A	G	snp	intergenic	 	 	 	 	LINC02353																		rs56397635	0.111621	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723828(dist=497430),LOC101928622(dist=1243503)	PCDH7(dist=1506035),AK093205(dist=1239096)	ENSG00000251329(dist=299616),ENSG00000250076(dist=358112)	Na	Na	Na	Na	Na	Na	Het;A>G	68;10|5	Hom;A>G	359;0|12
N	N	-	4	35431837	35431837	A	C	snp	intergenic	 	 	 	 	snoU13																		rs317056	0.469249	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928622(dist=1390322),ARAP2(dist=635783)	BC036345(dist=1390322),NONE(dist=NONE)	ENSG00000238694(dist=463871),ENSG00000250416(dist=57597)	Na	Na	Na	Na	Na	Na	Het;A>C	82;5|5	Hom;A>C	211;0|9
N	N	-	4	35481838	35481838	T	C	snp	intergenic	 	 	 	 	snoU13																		rs4859362	0.525359	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928622(dist=1440323),ARAP2(dist=585782)	BC036345(dist=1440323),NONE(dist=NONE)	ENSG00000238694(dist=513872),ENSG00000250416(dist=7596)	Na	Na	Na	Na	Na	Na	Het;T>C	87;3|5	Hom;T>C	162;0|7
N	N	-	4	35481956	35481956	A	G	snp	intergenic	 	 	 	 	snoU13																		rs4859304	0.341054	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928622(dist=1440441),ARAP2(dist=585664)	BC036345(dist=1440441),NONE(dist=NONE)	ENSG00000238694(dist=513990),ENSG00000250416(dist=7478)	Na	Na	Na	Na	Na	Na	Het;A>G	284;22|15	Hom;A>G	938;0|37
N	N	-	4	3632671	3632671	A	C	snp	intergenic	 	 	 	 	LINC00955																		rs76768977	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00955(dist=39959),LOC100133461(dist=42649)	LINC00955(dist=39959),LOC100133461(dist=42649)	ENSG00000216560(dist=40940),ENSG00000250681(dist=2085)	Na	Na	Na	Na	Na	Na	Het;A>C	44;4|2	Hom;A>C	63;0|2
N	N	-	4	3632673	3632673	C	T	snp	intergenic	 	 	 	 	LINC00955																		rs80052034	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00955(dist=39961),LOC100133461(dist=42647)	LINC00955(dist=39961),LOC100133461(dist=42647)	ENSG00000216560(dist=40942),ENSG00000250681(dist=2083)	Na	Na	Na	Na	Na	Na	Het;C>T	44;4|2	Hom;C>T	63;0|2
N	N	-	4	3632674	3632674	A	G	snp	intergenic	 	 	 	 	LINC00955																		rs79150321	0.000399361	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00955(dist=39962),LOC100133461(dist=42646)	LINC00955(dist=39962),LOC100133461(dist=42646)	ENSG00000216560(dist=40943),ENSG00000250681(dist=2082)	Na	Na	Na	Na	Na	Na	Het;A>G	44;4|2	Hom;A>G	63;0|2
N	N	-	4	3632695	3632695	C	T	snp	intergenic	 	 	 	 	LINC00955																		rs73192523	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00955(dist=39983),LOC100133461(dist=42625)	LINC00955(dist=39983),LOC100133461(dist=42625)	ENSG00000216560(dist=40964),ENSG00000250681(dist=2061)	Na	Na	Na	Na	Na	Na	Het;C>T	44;4|2	Hom;C>T	63;0|2
N	N	-	4	3632697	3632697	C	T	snp	intergenic	 	 	 	 	LINC00955																		rs73192524	0	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00955(dist=39985),LOC100133461(dist=42623)	LINC00955(dist=39985),LOC100133461(dist=42623)	ENSG00000216560(dist=40966),ENSG00000250681(dist=2059)	Na	Na	Na	Na	Na	Na	Het;C>T	44;2|2	Hom;C>T	63;0|2
N	N	-	4	36443650	36443650	C	T	snp	intergenic	 	 	 	 	AC104078.2																		rs11729493	0.423922	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1255B1(dist=15600),MIR4801(dist=799882)	DTHD1(dist=97243),MIR4801(dist=799882)	ENSG00000251438(dist=49618),ENSG00000248215(dist=54509)	Na	Na	Na	Na	Na	Na	Het;C>T	108;3|5	Hom;C>T	206;0|8
N	N	-	4	36460271	36460271	A	T	snp	intergenic	 	 	 	 	AC104078.2																		rs7690708	0.411342	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1255B1(dist=32221),MIR4801(dist=783261)	DTHD1(dist=113864),MIR4801(dist=783261)	ENSG00000251438(dist=66239),ENSG00000248215(dist=37888)	Na	Na	Na	Na	Na	Na	Het;A>T	226;9|10	Hom;A>T	225;0|9
N	N	-	4	36460352	36460352	G	A	snp	intergenic	 	 	 	 	AC104078.2																		rs7665425	0.413339	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1255B1(dist=32302),MIR4801(dist=783180)	DTHD1(dist=113945),MIR4801(dist=783180)	ENSG00000251438(dist=66320),ENSG00000248215(dist=37807)	Na	Na	Na	Na	Na	Na	Het;G>A	602;29|28	Hom;G>A	897;0|35
N	N	-	4	36509363	36509363	G	A	snp	ncRNA_exonic	 	 	 	 	AC125336.1																		rs6531453	0.234026	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR1255B1(dist=81313),MIR4801(dist=734169)	DTHD1(dist=162956),MIR4801(dist=734169)	ENSG00000251588	Na	Na	Na	Na	Na	Na	Het;G>A	87;5|6	Hom;G>A	241;0|10
N	N	-	4	3723918	3723918	T	G	snp	intergenic	 	 	 	 	LINC02171																		rs7664380	0.30611	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100133461(dist=44336),ADRA2C(dist=44378)	LOC100133461(dist=44336),ADRA2C(dist=44378)	ENSG00000250632(dist=44336),ENSG00000250986(dist=36557)	Na	Na	Na	Na	Na	Na	Het;T>G	165;3|9	Hom;T>G	393;0|10
N	N	-	4	3799787	3799787	G	A	snp	intergenic	 	 	 	 	ADRA2C	Adra2c	ENSG00000184160	adrenoceptor alpha 2C	chr4:3768075-3770251	Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]	personality traits; autonomic nervous system function; Tachycardia; Hemoglobin A, Glycosylated; blood pressure, arterial; null; Irritable Bowel Syndrome; alcohol consumption; Heart Failure; blood pressure, arterial epinephrine heart rate norepinephrine sympathetic activity; Long QT Syndrome; heart failure; Type 2 diabetes; attention deficit disorder conduct disorder oppositional defiant disorder; schizophrenia; Cardiomyopathy, Dilated|Heart Failure; Hypertension; adrenomedullary hormone activity; sympathetic nervous function; left ventricular ejection fraction; ADHD | attention-deficit hyperactivity disorder; congestive heart failure; Marijuana Abuse|Psychoses, Substance-Induced; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; depressive disorder, major; aortic compliance blood pressure, arterial cardiac output heart rate hypertension left ventricular mass systemic vascular resistance; idiopathic orthostatic intolerance; cognitive ability; left ventricular remodeling; schizophrenia; autism; alcoholism; attention deficit hyperactivity disorder; cocaine abuse; psychosis, puerperal; Psychiatric Disorders; dyspepsia; Cardiomyopathy, Dilated|; Low Tension Glaucoma	Mice homozygous for targeted mutations that inactivate the gene are viable and fertile and appear grossly normal.	Surfactant metabolism	GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007565;female pregnancy;IEA|GO:0010700;negative regulation of norepinephrine secretion;NAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0030168;platelet activation;IEA|GO:0032148;activation of protein kinase B activity;IDA|GO:0032811;negative regulation of epinephrine secretion;NAS|GO:0035625;epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway;IDA|GO:0045666;positive regulation of neuron differentiation;IDA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051930;regulation of sensory perception of pain;IEA|GO:0070473;negative regulation of uterine smooth muscle contraction;IEA|GO:0071875;adrenergic receptor signaling pathway;IEA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IBA|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0043679;axon terminus;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004938;alpha2-adrenergic receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0031694;alpha-2A adrenergic receptor binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ADRA2C			https://www.ncbi.nlm.nih.gov/omim/?term=104250	http://www.informatics.jax.org/searchtool/Search.do?query=ADRA2C&submit=Quick%0D%15143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRA2C	rs28434522	0.240815	0	0	1	0	0	intergenic	intergenic	intergenic	ADRA2C(dist=29534),FAM86EP(dist=143700)	ADRA2C(dist=29534),DQ584669(dist=142186)	ENSG00000184160(dist=29536),ENSG00000251166(dist=91296)	Na	Na	Na	Na	Na	Na	Het;G>A	36;4|3	Hom;G>A	194;0|8
N	N	-	4	38626130	38626130	A	C	snp	ncRNA_exonic	 	 	 	 	KLF3-AS1																		rs28418927	0.144169	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	KLF3-AS1	FLJ13197	ENSG00000231160	Na	Na	Na	Na	Na	Na	Het;A>C	1412;56|60	Hom;A>C	3679;0|123
N	N	-	4	39456635	39456635	T	C	snp	ncRNA_intronic	 	 	 	 	MIR1273H																		rs10025155	0.202077	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR1273H	RPL9	ENSG00000163682	Na	Na	Na	Na	Na	Na	Het;T>C	423;17|20	Hom;T>C	1055;2|39
N	N	-	4	39486930	39486930	A	G	snp	ncRNA_intronic	 	 	 	 	MIR1273H																		rs7356490	0.496406	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	MIR1273H	LOC401127(dist=3407),UGDH(dist=13445)	ENSG00000224097(dist=3405),ENSG00000109814(dist=13445)	Na	Na	Na	Na	Na	Na	Het;A>G	50;3|4	Hom;A>G	197;0|5
N	N	-	4	40010397	40010397	A	G	snp	intergenic	 	 	 	 	PDS5A	Pds5a	ENSG00000121892	PDS5 cohesin associated factor A	chr4:39824483-39979576	The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]	Stroke	Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development.	Resolution of Sister Chromatid Cohesion	GO:0006281;DNA repair;IBA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IPI|GO:0008156;negative regulation of DNA replication;IMP|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDS5A	https://www.uniprot.org/uniprot/Q29RF7		https://www.ncbi.nlm.nih.gov/omim/?term=613200	http://www.informatics.jax.org/searchtool/Search.do?query=PDS5A&submit=Quick%0D%5356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDS5A	rs527046	0.740815	0	0	1	0	0	intergenic	intergenic	intergenic	PDS5A(dist=30821),LOC344967(dist=34140)	PDS5A(dist=30821),LOC344967(dist=34140)	ENSG00000121892(dist=30821),ENSG00000249064(dist=11463)	Na	Na	Na	Na	Na	Na	Het;A>G	2188;82|69	Hom;A>G	10756;1|249
N	N	-	4	40010552	40010552	T	A	snp	intergenic	 	 	 	 	PDS5A	Pds5a	ENSG00000121892	PDS5 cohesin associated factor A	chr4:39824483-39979576	The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]	Stroke	Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development.	Resolution of Sister Chromatid Cohesion	GO:0006281;DNA repair;IBA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IPI|GO:0008156;negative regulation of DNA replication;IMP|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDS5A	https://www.uniprot.org/uniprot/Q29RF7		https://www.ncbi.nlm.nih.gov/omim/?term=613200	http://www.informatics.jax.org/searchtool/Search.do?query=PDS5A&submit=Quick%0D%5356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDS5A	rs10212702	0.289936	0	0	1	0	0	intergenic	intergenic	intergenic	PDS5A(dist=30976),LOC344967(dist=33985)	PDS5A(dist=30976),LOC344967(dist=33985)	ENSG00000121892(dist=30976),ENSG00000249064(dist=11308)	Na	Na	Na	Na	Na	Na	Het;T>A	60;2|3	Hom;T>A	221;0|7
N	N	-	4	4051273	4051273	G	A	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs28501095	0.226438	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=94118),OTOP1(dist=139257)	BC042823	ENSG00000264106(dist=12359),ENSG00000243894(dist=27165)	Na	Na	Na	Na	Na	Na	Het;G>A	451;6|13	Hom;G>A	661;1|20
N	N	-	4	4051294	4051294	A	G	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs28415126	0.221246	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=94139),OTOP1(dist=139236)	BC042823	ENSG00000264106(dist=12380),ENSG00000243894(dist=27144)	Na	Na	Na	Na	Na	Na	Het;A>G	441;3|12	Hom;A>G	422;0|10
N	N	-	4	4051616	4051616	T	G	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs9291081	0.675719	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=94461),OTOP1(dist=138914)	BC042823	ENSG00000264106(dist=12702),ENSG00000243894(dist=26822)	Na	Na	Na	Na	Na	Na	Het;T>G	346;11|8	Hom;T>G	729;0|16
N	N	-	4	4051626	4051626	C	A	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs9291082	0.34365	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=94471),OTOP1(dist=138904)	BC042823	ENSG00000264106(dist=12712),ENSG00000243894(dist=26812)	Na	Na	Na	Na	Na	Na	Het;C>A	346;13|11	Hom;C>A	834;0|20
N	N	-	4	4051841	4051841	T	C	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs3952864	0.438698	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=94686),OTOP1(dist=138689)	BC042823	ENSG00000264106(dist=12927),ENSG00000243894(dist=26597)	Na	Na	Na	Na	Na	Na	Het;T>C	273;12|14	Hom;T>C	989;0|35
N	N	-	4	4060689	4060689	G	A	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs7658241	0.819688	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=103534),OTOP1(dist=129841)	BC042823	ENSG00000264106(dist=21775),ENSG00000243894(dist=17749)	Na	Na	Na	Na	Na	Na	Het;G>A	567;41|28	Hom;G>A	1735;0|59
N	N	-	4	4061299	4061299	T	C	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs11736706	0.831869	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=104144),OTOP1(dist=129231)	BC042823	ENSG00000264106(dist=22385),ENSG00000243894(dist=17139)	Na	Na	Na	Na	Na	Na	Het;T>C	992;31|43	Hom;T>C	1473;0|49
N	N	-	4	4061362	4061362	C	G	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs10025106	0.809505	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=104207),OTOP1(dist=129168)	BC042823	ENSG00000264106(dist=22448),ENSG00000243894(dist=17076)	Na	Na	Na	Na	Na	Na	Het;C>G	642;11|17	Hom;C>G	1165;0|27
N	N	-	4	4061364	4061364	T	C	snp	ncRNA_intronic	 	 	 	 	BC042823																		rs10032189	0.831669	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86EP(dist=104209),OTOP1(dist=129166)	BC042823	ENSG00000264106(dist=22450),ENSG00000243894(dist=17074)	Na	Na	Na	Na	Na	Na	Het;T>C	642;11|16	Hom;T>C	1165;0|26
N	N	-	4	40778146	40778146	C	T	snp	synonymous SNV	C906T	G302G	aliphatic,neutral	aliphatic,neutral	NSUN7	Nsun7	ENSG00000179299	NOP2/Sun RNA methyltransferase family member 7	chr4:40751914-40812002			Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath.		GO:0032259;methylation;IEA		GO:0003723;RNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NSUN7			https://www.ncbi.nlm.nih.gov/omim/?term=617185	http://www.informatics.jax.org/searchtool/Search.do?query=NSUN7&submit=Quick%0D%14322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NSUN7	rs2465570	0.729034	0.8248	0.7671	1	0	0	exonic	exonic	exonic	NSUN7	NSUN7	ENSG00000179299	synonymous SNV	synonymous SNV	unknown	NSUN7:NM_024677:exon7:c.C906T:p.G302G,	NSUN7:uc003gvi.4:exon7:c.C906T:p.G302G,NSUN7:uc003gvj.4:exon7:c.C906T:p.G302G,	UNKNOWN	Het;C>T	1261;61|61	Hom;C>T	3043;1|116
N	N	-	4	40778162	40778162	T	G	snp	nonsynonymous SNV	T922G	S308A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	NSUN7	Nsun7	ENSG00000179299	NOP2/Sun RNA methyltransferase family member 7	chr4:40751914-40812002			Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath.		GO:0032259;methylation;IEA		GO:0003723;RNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NSUN7			https://www.ncbi.nlm.nih.gov/omim/?term=617185	http://www.informatics.jax.org/searchtool/Search.do?query=NSUN7&submit=Quick%0D%14322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NSUN7	rs2437323	0.729233	0.8249	0.7673	0.23	3	13	exonic	exonic	exonic	NSUN7	NSUN7	ENSG00000179299	nonsynonymous SNV	nonsynonymous SNV	unknown	NSUN7:NM_024677:exon7:c.T922G:p.S308A,	NSUN7:uc003gvi.4:exon7:c.T922G:p.S308A,NSUN7:uc003gvj.4:exon7:c.T922G:p.S308A,	UNKNOWN	Het;T>G	1194;57|52	Hom;T>G	2974;1|103
N	N	-	4	40788544	40788544	A	G	snp	ncRNA_exonic	 	 	 	 	ARL4AP2																		rs2953325	0.728634	0	0	1	0	0	intronic	intronic	ncRNA_exonic	NSUN7	NSUN7	ENSG00000248780	Na	Na	Na	Na	Na	Na	Het;A>G	801;23|35	Hom;A>G	2166;0|72
N	N	-	4	40895552	40895552	G	C	snp	intronic	 	 	 	 	APBB2	Apbb2	ENSG00000163697	amyloid beta precursor protein binding family B member 2	chr4:40812044-41218731	The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Alzheimer's Disease; Alzheimer's disease ; Narcolepsy; Tunica Media	Mice homozygous for a knock-out allele are viable and fertile and display normal brain morphology.		GO:0001764;neuron migration;IEA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0007050;cell cycle arrest;ISS|GO:0007411;axon guidance;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030308;negative regulation of cell growth;ISS|GO:0035556;intracellular signal transduction;NAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;NAS|GO:0030027;lamellipodium;ISS|GO:0030426;growth cone;ISS|GO:0045202;synapse;ISS	GO:0001540;beta-amyloid binding;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/APBB2			https://www.ncbi.nlm.nih.gov/omim/?term=602710	http://www.informatics.jax.org/searchtool/Search.do?query=APBB2&submit=Quick%0D%11061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APBB2	rs6447505	0.510184	0	0	1	0	0	intronic	intronic	intronic	APBB2	APBB2	ENSG00000163697	Na	Na	Na	Na	Na	Na	Het;G>C	220;9|9	Hom;G>C	480;0|12
N	N	-	4	40981452	40981452	G	GT	indel	intronic	 	 	 	 	APBB2	Apbb2	ENSG00000163697	amyloid beta precursor protein binding family B member 2	chr4:40812044-41218731	The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Alzheimer's Disease; Alzheimer's disease ; Narcolepsy; Tunica Media	Mice homozygous for a knock-out allele are viable and fertile and display normal brain morphology.		GO:0001764;neuron migration;IEA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0007050;cell cycle arrest;ISS|GO:0007411;axon guidance;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030308;negative regulation of cell growth;ISS|GO:0035556;intracellular signal transduction;NAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;NAS|GO:0030027;lamellipodium;ISS|GO:0030426;growth cone;ISS|GO:0045202;synapse;ISS	GO:0001540;beta-amyloid binding;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/APBB2			https://www.ncbi.nlm.nih.gov/omim/?term=602710	http://www.informatics.jax.org/searchtool/Search.do?query=APBB2&submit=Quick%0D%11061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APBB2	rs35883561	0.451478	0	0	1	0	0	intronic	intronic	intronic	APBB2	APBB2	ENSG00000163697	Na	Na	Na	Na	Na	Na	Het;+T	546;23|19	Hom;+T	1415;0|39
N	N	-	4	41015823	41015823	G	A	snp	synonymous SNV	C561T	G187G	aliphatic,neutral	aliphatic,neutral	APBB2	Apbb2	ENSG00000163697	amyloid beta precursor protein binding family B member 2	chr4:40812044-41218731	The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Alzheimer's Disease; Alzheimer's disease ; Narcolepsy; Tunica Media	Mice homozygous for a knock-out allele are viable and fertile and display normal brain morphology.		GO:0001764;neuron migration;IEA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0007050;cell cycle arrest;ISS|GO:0007411;axon guidance;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030308;negative regulation of cell growth;ISS|GO:0035556;intracellular signal transduction;NAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;NAS|GO:0030027;lamellipodium;ISS|GO:0030426;growth cone;ISS|GO:0045202;synapse;ISS	GO:0001540;beta-amyloid binding;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/APBB2			https://www.ncbi.nlm.nih.gov/omim/?term=602710	http://www.informatics.jax.org/searchtool/Search.do?query=APBB2&submit=Quick%0D%11061ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APBB2	rs2292234	0.307308	0.1862	0.3284	1	0	0	exonic	exonic	exonic	APBB2	APBB2	ENSG00000163697	synonymous SNV	synonymous SNV	unknown	APBB2:NM_004307:exon6:c.C612T:p.G204G,APBB2:NM_001166050:exon6:c.C612T:p.G204G,APBB2:NM_173075:exon6:c.C612T:p.G204G,	APBB2:uc011byt.1:exon1:c.C561T:p.G187G,APBB2:uc003gvl.3:exon6:c.C612T:p.G204G,APBB2:uc003gvn.3:exon6:c.C612T:p.G204G,APBB2:uc003gvm.3:exon6:c.C612T:p.G204G,	UNKNOWN	Het;G>A	943;59|49	Hom;G>A	2008;2|75
N	N	-	4	41222268	41222268	C	T	snp	ncRNA_exonic	 	 	 	 	UCHL1-AS1																		rs2342526	0.446685	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	UCHL1-AS1	UCHL1-AS1	ENSG00000251173	Na	Na	Na	Na	Na	Na	Het;C>T	1005;98|53	Hom;C>T	3245;0|120
N	N	-	4	4176201	4176201	C	A	snp	ncRNA_exonic	 	 	 	 	OR7E43P																		rs28375212	0.248003	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FAM86EP(dist=219046),OTOP1(dist=14329)	BC042823(dist=99418),OTOP1(dist=14329)	ENSG00000249844	Na	Na	Na	Na	Na	Na	Het;C>A	1116;59|50	Hom;C>A	2200;0|79
N	N	-	4	42466641	42466641	C	T	snp	intronic	 	 	 	 	ATP8A1	Atp8a1	ENSG00000124406	ATPase phospholipid transporting 8A1	chr4:42410390-42659122	The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Heart Rate; Tobacco Use Disorder; Diabetes Mellitus, Type 2; Diabetes Mellitus; smoking cessation; Myocardial Infarction	Homozygous mutant mice are viable, fertile and phenotypically normal.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007612;learning;IEA|GO:0015914;phospholipid transport;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA|GO:0048194;Golgi vesicle budding;IBA|GO:0061092;positive regulation of phospholipid translocation;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0042584;chromaffin granule membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A1	https://www.uniprot.org/uniprot/Q9Y2Q0		https://www.ncbi.nlm.nih.gov/omim/?term=609542	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A1&submit=Quick%0D%5653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A1	rs12647640	0.538938	0	0	1	0	0	intronic	intronic	intronic	ATP8A1	ATP8A1	ENSG00000124406	Na	Na	Na	Na	Na	Na	Het;C>T	124;4|6	Hom;C>T	600;0|18
N	N	-	4	42526711	42526711	C	A	snp	intronic	 	 	 	 	ATP8A1	Atp8a1	ENSG00000124406	ATPase phospholipid transporting 8A1	chr4:42410390-42659122	The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Heart Rate; Tobacco Use Disorder; Diabetes Mellitus, Type 2; Diabetes Mellitus; smoking cessation; Myocardial Infarction	Homozygous mutant mice are viable, fertile and phenotypically normal.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007612;learning;IEA|GO:0015914;phospholipid transport;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA|GO:0048194;Golgi vesicle budding;IBA|GO:0061092;positive regulation of phospholipid translocation;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0042584;chromaffin granule membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A1	https://www.uniprot.org/uniprot/Q9Y2Q0		https://www.ncbi.nlm.nih.gov/omim/?term=609542	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A1&submit=Quick%0D%5653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A1	rs73235594	0.166534	0	0	1	0	0	intronic	intronic	intronic	ATP8A1	ATP8A1	ENSG00000124406	Na	Na	Na	Na	Na	Na	Het;C>A	255;3|11	Hom;C>A	327;0|11
N	N	-	4	42551164	42551164	T	C	snp	intronic	 	 	 	 	ATP8A1	Atp8a1	ENSG00000124406	ATPase phospholipid transporting 8A1	chr4:42410390-42659122	The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Heart Rate; Tobacco Use Disorder; Diabetes Mellitus, Type 2; Diabetes Mellitus; smoking cessation; Myocardial Infarction	Homozygous mutant mice are viable, fertile and phenotypically normal.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007612;learning;IEA|GO:0015914;phospholipid transport;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA|GO:0048194;Golgi vesicle budding;IBA|GO:0061092;positive regulation of phospholipid translocation;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0042584;chromaffin granule membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8A1	https://www.uniprot.org/uniprot/Q9Y2Q0		https://www.ncbi.nlm.nih.gov/omim/?term=609542	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A1&submit=Quick%0D%5653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A1	rs3811769	0.155751	0	0	1	0	0	intronic	intronic	intronic	ATP8A1	ATP8A1	ENSG00000124406	Na	Na	Na	Na	Na	Na	Het;T>C	63;6|4	Hom;T>C	353;0|12
N	N	-	4	4281570	4281570	C	T	snp	intronic	 	 	 	 	LYAR	Lyar	ENSG00000145220	Ly1 antibody reactive	chr4:4269428-4291896			Mice homozygous for a knock-out allele exhibit reduced proliferation of mouse embryonic fibroblasts and results in female prenatal lethality when presnt with a Trp53 null allele.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYAR	https://www.uniprot.org/uniprot/Q9NX58			http://www.informatics.jax.org/searchtool/Search.do?query=LYAR&submit=Quick%0D%8709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYAR	rs12644991	0.401358	0	0	1	0	0	intronic	intronic	intronic	LYAR	LYAR	ENSG00000145220	Na	Na	Na	Na	Na	Na	Het;C>T	230;5|9	Hom;C>T	429;0|14
N	N	-	4	4283676	4283676	G	A	snp	intronic	 	 	 	 	LYAR	Lyar	ENSG00000145220	Ly1 antibody reactive	chr4:4269428-4291896			Mice homozygous for a knock-out allele exhibit reduced proliferation of mouse embryonic fibroblasts and results in female prenatal lethality when presnt with a Trp53 null allele.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYAR	https://www.uniprot.org/uniprot/Q9NX58			http://www.informatics.jax.org/searchtool/Search.do?query=LYAR&submit=Quick%0D%8709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYAR	rs2272738	0.173522	0.2006	0.2519	1	0	0	intronic	intronic	intronic	LYAR	LYAR	ENSG00000145220	Na	Na	Na	Na	Na	Na	Het;G>A	688;33|32	Hom;G>A	1118;0|39
N	N	-	4	4285265	4285265	T	A	snp	intronic	 	 	 	 	LYAR	Lyar	ENSG00000145220	Ly1 antibody reactive	chr4:4269428-4291896			Mice homozygous for a knock-out allele exhibit reduced proliferation of mouse embryonic fibroblasts and results in female prenatal lethality when presnt with a Trp53 null allele.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYAR	https://www.uniprot.org/uniprot/Q9NX58			http://www.informatics.jax.org/searchtool/Search.do?query=LYAR&submit=Quick%0D%8709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYAR	rs4688927	0.40635	0	0	1	0	0	intronic	intronic	intronic	LYAR	LYAR	ENSG00000145220	Na	Na	Na	Na	Na	Na	Het;T>A	236;7|10	Hom;T>A	220;0|7
N	N	-	4	4285545	4285545	A	C	snp	intronic	 	 	 	 	LYAR	Lyar	ENSG00000145220	Ly1 antibody reactive	chr4:4269428-4291896			Mice homozygous for a knock-out allele exhibit reduced proliferation of mouse embryonic fibroblasts and results in female prenatal lethality when presnt with a Trp53 null allele.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYAR	https://www.uniprot.org/uniprot/Q9NX58			http://www.informatics.jax.org/searchtool/Search.do?query=LYAR&submit=Quick%0D%8709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYAR	rs2916439	0.406749	0	0	1	0	0	intronic	intronic	intronic	LYAR	LYAR	ENSG00000145220	Na	Na	Na	Na	Na	Na	Het;A>C	182;10|8	Hom;A>C	729;0|23
N	N	-	4	4285587	4285587	C	A	snp	intronic	 	 	 	 	LYAR	Lyar	ENSG00000145220	Ly1 antibody reactive	chr4:4269428-4291896			Mice homozygous for a knock-out allele exhibit reduced proliferation of mouse embryonic fibroblasts and results in female prenatal lethality when presnt with a Trp53 null allele.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYAR	https://www.uniprot.org/uniprot/Q9NX58			http://www.informatics.jax.org/searchtool/Search.do?query=LYAR&submit=Quick%0D%8709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYAR	rs4688928	0.406949	0	0	1	0	0	intronic	intronic	intronic	LYAR	LYAR	ENSG00000145220	Na	Na	Na	Na	Na	Na	Het;C>A	77;7|3	Hom;C>A	467;0|11
N	N	-	4	4285588	4285588	C	G	snp	intronic	 	 	 	 	LYAR	Lyar	ENSG00000145220	Ly1 antibody reactive	chr4:4269428-4291896			Mice homozygous for a knock-out allele exhibit reduced proliferation of mouse embryonic fibroblasts and results in female prenatal lethality when presnt with a Trp53 null allele.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYAR	https://www.uniprot.org/uniprot/Q9NX58			http://www.informatics.jax.org/searchtool/Search.do?query=LYAR&submit=Quick%0D%8709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYAR	rs4688929	0.407348	0	0	1	0	0	intronic	intronic	intronic	LYAR	LYAR	ENSG00000145220	Na	Na	Na	Na	Na	Na	Het;C>G	77;7|3	Hom;C>G	467;0|11
N	N	-	4	4291915	4291916	GC	G	indel	upstream	 	 	 	 	LYAR	Lyar	ENSG00000145220	Ly1 antibody reactive	chr4:4269428-4291896			Mice homozygous for a knock-out allele exhibit reduced proliferation of mouse embryonic fibroblasts and results in female prenatal lethality when presnt with a Trp53 null allele.			GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYAR	https://www.uniprot.org/uniprot/Q9NX58			http://www.informatics.jax.org/searchtool/Search.do?query=LYAR&submit=Quick%0D%8709ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYAR	rs3832294	0.415935	0	0	1	0	0	upstream	upstream	upstream	LYAR,ZBTB49	LYAR,ZBTB49	ENSG00000145220,ENSG00000168826	Na	Na	Na	Na	Na	Na	Het;-C	353;17|16	Hom;-C	1140;0|39
N	N	-	4	4304522	4304522	A	C	snp	nonsynonymous SNV	A959C	Y320S	aromatic,polar,hydrophobic	polar,hydrophilic,neutral	ZBTB49	Zbtb49	ENSG00000168826	zinc finger and BTB domain containing 49	chr4:4291924-4323513			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA	GO:0001223;transcription coactivator binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB49			https://www.ncbi.nlm.nih.gov/omim/?term=616238	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB49&submit=Quick%0D%12353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB49	rs2920217	0.202676	0.2464	0.2635	0.08	1	13	exonic	exonic	exonic	ZBTB49	ZBTB49	ENSG00000168826	nonsynonymous SNV	nonsynonymous SNV	unknown	ZBTB49:NM_145291:exon3:c.A959C:p.Y320S,	ZBTB49:uc010icz.3:exon1:c.A59C:p.Y20S,ZBTB49:uc003ghu.3:exon3:c.A959C:p.Y320S,	UNKNOWN	Het;A>C	950;41|41	Hom;A>C	3094;0|102
N	N	-	4	4317777	4317777	C	T	snp	intronic	 	 	 	 	ZBTB49	Zbtb49	ENSG00000168826	zinc finger and BTB domain containing 49	chr4:4291924-4323513			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA	GO:0001223;transcription coactivator binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB49			https://www.ncbi.nlm.nih.gov/omim/?term=616238	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB49&submit=Quick%0D%12353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB49	rs1470264	0.191294	0	0	1	0	0	intronic	intronic	intronic	ZBTB49	ZBTB49	ENSG00000168826	Na	Na	Na	Na	Na	Na	Het;C>T	522;25|25	Hom;C>T	1627;0|57
N	N	-	4	4322275	4322275	A	G	snp	intronic	 	 	 	 	ZBTB49	Zbtb49	ENSG00000168826	zinc finger and BTB domain containing 49	chr4:4291924-4323513			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA	GO:0001223;transcription coactivator binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB49			https://www.ncbi.nlm.nih.gov/omim/?term=616238	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB49&submit=Quick%0D%12353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB49	rs873923	0.550719	0	0	1	0	0	intronic	intronic	intronic	ZBTB49	ZBTB49	ENSG00000168826	Na	Na	Na	Na	Na	Na	Het;A>G	76;3|3	Hom;A>G	385;0|11
N	N	-	4	4411559	4411559	T	C	snp	intronic	 	 	 	 	NSG1	Nsg1																	rs7655690	0.341054	0	0	1	0	0	intronic	intronic	intronic	NSG1	NSG1	ENSG00000168824	Na	Na	Na	Na	Na	Na	Het;T>C	91;4|4	Hom;T>C	340;0|11
N	N	-	4	4421055	4421055	T	C	snp	UTR3	*706A>G	 	 	 	STX18	Stx18	ENSG00000168818	syntaxin 18	chr4:4417469-4544073		Blood Pressure; Hypertension; Cleft Lip|Cleft Palate; Prostatic Neoplasms; Pancreatic Neoplasms; Alcoholism	 	COPI-dependent Golgi-to-ER retrograde traffic	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0061025;membrane fusion;IEA|GO:0090158;endoplasmic reticulum membrane organization;IMP|GO:1902117;positive regulation of organelle assembly;IMP|GO:1902953;positive regulation of ER to Golgi vesicle-mediated transport;IMP|GO:1903358;regulation of Golgi organization;IMP	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA	GO:0005484;SNAP receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STX18			https://www.ncbi.nlm.nih.gov/omim/?term=606046	http://www.informatics.jax.org/searchtool/Search.do?query=STX18&submit=Quick%0D%12351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX18	rs2044	0.336462	0	0	1	0	0	UTR3	UTR3	UTR3	STX18(NM_016930:c.*706A>G)	STX18(uc003gic.3:c.*706A>G)	ENSG00000168818(ENST00000306200:c.*706A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	2024;82|92	Hom;T>C	5101;0|172
N	N	-	4	4421575	4421575	T	TG	indel	UTR3	*186A>CA	 	 	 	STX18	Stx18	ENSG00000168818	syntaxin 18	chr4:4417469-4544073		Blood Pressure; Hypertension; Cleft Lip|Cleft Palate; Prostatic Neoplasms; Pancreatic Neoplasms; Alcoholism	 	COPI-dependent Golgi-to-ER retrograde traffic	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0061025;membrane fusion;IEA|GO:0090158;endoplasmic reticulum membrane organization;IMP|GO:1902117;positive regulation of organelle assembly;IMP|GO:1902953;positive regulation of ER to Golgi vesicle-mediated transport;IMP|GO:1903358;regulation of Golgi organization;IMP	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA	GO:0005484;SNAP receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STX18			https://www.ncbi.nlm.nih.gov/omim/?term=606046	http://www.informatics.jax.org/searchtool/Search.do?query=STX18&submit=Quick%0D%12351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX18	rs35215546	0.336462	0	0	1	0	0	UTR3	UTR3	UTR3	STX18(NM_016930:c.*186A>CA)	STX18(uc003gic.3:c.*186A>CA)	ENSG00000168818(ENST00000306200:c.*186A>CA)	Na	Na	Na	Na	Na	Na	Het;+G	1845;78|65	Hom;+G	4711;1|133
N	N	-	4	4436436	4436436	T	C	snp	intronic	 	 	 	 	STX18	Stx18	ENSG00000168818	syntaxin 18	chr4:4417469-4544073		Blood Pressure; Hypertension; Cleft Lip|Cleft Palate; Prostatic Neoplasms; Pancreatic Neoplasms; Alcoholism	 	COPI-dependent Golgi-to-ER retrograde traffic	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0061025;membrane fusion;IEA|GO:0090158;endoplasmic reticulum membrane organization;IMP|GO:1902117;positive regulation of organelle assembly;IMP|GO:1902953;positive regulation of ER to Golgi vesicle-mediated transport;IMP|GO:1903358;regulation of Golgi organization;IMP	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA	GO:0005484;SNAP receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STX18			https://www.ncbi.nlm.nih.gov/omim/?term=606046	http://www.informatics.jax.org/searchtool/Search.do?query=STX18&submit=Quick%0D%12351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX18	rs6825715	0.35643	0	0	1	0	0	intronic	intronic	intronic	STX18	STX18	ENSG00000168818	Na	Na	Na	Na	Na	Na	Het;T>C	195;16|7	Hom;T>C	459;0|14
N	N	-	4	44691795	44691795	T	TA	indel	intronic	 	 	 	 	GUF1	Guf1	ENSG00000151806	GUF1 homolog, GTPase	chr4:44680444-44702943	This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006412;translation;IEA|GO:0045727;positive regulation of translation;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GUF1	https://www.uniprot.org/uniprot/Q8N442	https://hpo.jax.org/app/browse/search?q=GUF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617064	http://www.informatics.jax.org/searchtool/Search.do?query=GUF1&submit=Quick%0D%9474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GUF1	rs11373408	0.50599	0	0	1	0	0	intronic	intronic	intronic	GUF1	GUF1	ENSG00000151806,ENSG00000163281	Na	Na	Na	Na	Na	Na	Het;+A	225;8|14	Hom;+A	417;1|20
N	N	-	4	4473216	4473216	G	A	snp	intronic	 	 	 	 	STX18	Stx18	ENSG00000168818	syntaxin 18	chr4:4417469-4544073		Blood Pressure; Hypertension; Cleft Lip|Cleft Palate; Prostatic Neoplasms; Pancreatic Neoplasms; Alcoholism	 	COPI-dependent Golgi-to-ER retrograde traffic	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0061025;membrane fusion;IEA|GO:0090158;endoplasmic reticulum membrane organization;IMP|GO:1902117;positive regulation of organelle assembly;IMP|GO:1902953;positive regulation of ER to Golgi vesicle-mediated transport;IMP|GO:1903358;regulation of Golgi organization;IMP	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA	GO:0005484;SNAP receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STX18			https://www.ncbi.nlm.nih.gov/omim/?term=606046	http://www.informatics.jax.org/searchtool/Search.do?query=STX18&submit=Quick%0D%12351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX18	rs6816884	0.211262	0	0	1	0	0	intronic	intronic	intronic	STX18	STX18	ENSG00000168818	Na	Na	Na	Na	Na	Na	Het;G>A	266;13|13	Hom;G>A	831;0|29
N	N	-	4	4479811	4479811	G	A	snp	ncRNA_intronic	 	 	 	 	STX18-IT1																		rs11722452	0.329673	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	STX18-IT1	STX18	ENSG00000248221	Na	Na	Na	Na	Na	Na	Het;G>A	412;20|18	Hom;G>A	1705;0|47
N	N	-	4	47034626	47034626	C	G	snp	nonsynonymous SNV	C365G	P122R	hydrophobic,neutral	polar,hydrophilic,charged(+)	GABRB1	Gabrb1	ENSG00000163288	gamma-aminobutyric acid type A receptor beta1 subunit	chr4:46995740-47428461	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]	Body Height; epilepsy, temporal lobe; alcohol abuse; Tobacco Use Disorder; alcohol consumption; Bulimia; alcohol withdrawal alcoholism; Waist Circumference; Creatinine; attention deficit disorder conduct disorder oppositional defiant disorder; Echocardiography; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; panic disorder; alcohol dependence; epilepsy; Bipolar Disorder; manic-depressive illness	Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction.	GABA A receptor activation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0009636;response to toxic substance;IEA|GO:0021954;central nervous system neuron development;IEA|GO:0032570;response to progesterone;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042698;ovulation cycle;IEA|GO:0071420;cellular response to histamine;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IDA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0034707;chloride channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IDA	GO:0004890;GABA-A receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005253;anion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0015276;ligand-gated ion channel activity;IEA|GO:0022851;GABA-gated chloride ion channel activity;IDA|GO:0050811;GABA receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRB1		https://hpo.jax.org/app/browse/search?q=GABRB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137190	http://www.informatics.jax.org/searchtool/Search.do?query=GABRB1&submit=Quick%0D%10926ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRB1	rs41309288	0.584265	0	0.6109	1	0	0	intronic	exonic	intronic	GABRB1	GABRB1	ENSG00000163288	Na	nonsynonymous SNV	Na	Na	GABRB1:uc011bzd.1:exon3:c.C365G:p.P122R,	Na	Het;C>G	240;3|8	Hom;C>G	601;0|16
N	N	-	4	4711210	4711210	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100507266																		rs12696704	0.469848	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	STX18-AS1	LOC100507266	ENSG00000247708	Na	Na	Na	Na	Na	Na	Het;C>T	283;11|13	Hom;C>T	923;0|32
N	N	-	4	4712140	4712140	C	T	snp	ncRNA_exonic	 	 	 	 	STX18-AS1																		rs1022133	0.57528	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	STX18-AS1	LOC100507266	ENSG00000247708	Na	Na	Na	Na	Na	Na	Het;C>T	1682;163|88	Hom;C>T	4323;2|161
N	N	-	4	47514685	47514685	C	T	snp	nonsynonymous SNV	C128T	T43I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ATP10D	Atp10d	ENSG00000145246	ATPase phospholipid transporting 10D (putative)	chr4:47487305-47595503		Tobacco Use Disorder; sphingolipid concentrations; normal variation; Coronary Artery Disease; Sphingolipids; Glucosylceramides; Acquired Immunodeficiency Syndrome|Disease Progression	The C57BL/6J strain carries a spontaneous knockout mutation.  Viability and fertility are unaffected.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006812;cation transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP10D	https://www.uniprot.org/uniprot/Q9P241			http://www.informatics.jax.org/searchtool/Search.do?query=ATP10D&submit=Quick%0D%8713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP10D	rs33995001	0.304912	0.3897	0.3865	0.31	4	13	exonic	exonic	exonic	ATP10D	ATP10D	ENSG00000145246	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP10D:NM_020453:exon2:c.C128T:p.T43I,	ATP10D:uc003gxk.1:exon2:c.C128T:p.T43I,ATP10D:uc003gxj.3:exon2:c.C128T:p.T43I,	UNKNOWN	Het;C>T	876;132|54	Hom;C>T	3804;2|144
N	N	-	4	47514967	47514967	A	C	snp	intronic	 	 	 	 	ATP10D	Atp10d	ENSG00000145246	ATPase phospholipid transporting 10D (putative)	chr4:47487305-47595503		Tobacco Use Disorder; sphingolipid concentrations; normal variation; Coronary Artery Disease; Sphingolipids; Glucosylceramides; Acquired Immunodeficiency Syndrome|Disease Progression	The C57BL/6J strain carries a spontaneous knockout mutation.  Viability and fertility are unaffected.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006812;cation transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP10D	https://www.uniprot.org/uniprot/Q9P241			http://www.informatics.jax.org/searchtool/Search.do?query=ATP10D&submit=Quick%0D%8713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP10D	rs35634995	0.217452	0	0	1	0	0	intronic	intronic	intronic	ATP10D	ATP10D	ENSG00000145246	Na	Na	Na	Na	Na	Na	Het;A>C	37;4|2	Hom;A>C	267;0|7
N	N	-	4	47565481	47565481	G	C	snp	intronic	 	 	 	 	ATP10D	Atp10d	ENSG00000145246	ATPase phospholipid transporting 10D (putative)	chr4:47487305-47595503		Tobacco Use Disorder; sphingolipid concentrations; normal variation; Coronary Artery Disease; Sphingolipids; Glucosylceramides; Acquired Immunodeficiency Syndrome|Disease Progression	The C57BL/6J strain carries a spontaneous knockout mutation.  Viability and fertility are unaffected.	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006812;cation transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;NAS	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP10D	https://www.uniprot.org/uniprot/Q9P241			http://www.informatics.jax.org/searchtool/Search.do?query=ATP10D&submit=Quick%0D%8713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP10D	rs6842801	0.257588	0	0	1	0	0	intronic	intronic	intronic	ATP10D	ATP10D	ENSG00000145246	Na	Na	Na	Na	Na	Na	Het;G>C	79;3|3	Hom;G>C	137;0|4
N	N	-	4	48139565	48139565	C	A	snp	intronic	 	 	 	 	TEC	Tec	ENSG00000135605	tec protein tyrosine kinase	chr4:48137800-48271881	The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Inflammatory Bowel Diseases; Narcolepsy; HIV; Lymphedema	Mice homozygous for a knock-out allele exhibit a minor reduction in platetet aggregation in response to threshold concentrations of collagen-related peptide or collagen.	Interleukin-3, 5 and GM-CSF signaling	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0010543;regulation of platelet activation;IDA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030154;cell differentiation;IBA|GO:0035556;intracellular signal transduction;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042246;tissue regeneration;IEA|GO:0045087;innate immune response;IBA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050853;B cell receptor signaling pathway;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005543;phospholipid binding;NAS|GO:0008289;lipid binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEC	https://www.uniprot.org/uniprot/P42680		https://www.ncbi.nlm.nih.gov/omim/?term=600583	http://www.informatics.jax.org/searchtool/Search.do?query=TEC&submit=Quick%0D%7187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEC	rs2661529	0.812101	0.7853	0.7908	1	0	0	intronic	intronic	intronic	TEC	TEC	ENSG00000135605	Na	Na	Na	Na	Na	Na	Het;C>A	173;43|12	Hom;C>A	1439;0|55
N	N	-	4	49163622	49163622	T	C	snp	intergenic	 	 	 	 	CWH43	Cwh43	ENSG00000109182	cell wall biogenesis 43 C-terminal homolog	chr4:48988264-49064098		Hepatitis C, Chronic	Male mice homozygous for a null allele exhibit normal fertility.		GO:0006506;GPI anchor biosynthetic process;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CWH43	https://www.uniprot.org/uniprot/Q9H720			http://www.informatics.jax.org/searchtool/Search.do?query=CWH43&submit=Quick%0D%3828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CWH43	rs9291329	0.460064	0	0	1	0	0	intergenic	intergenic	intergenic	CWH43(dist=99527),NONE(dist=NONE)	CWH43(dist=99527),DQ579288(dist=41440)	ENSG00000109182(dist=99524),ENSG00000222437(dist=35598)	Na	Na	Na	Na	Na	Na	Het;T>C	231;3|9	Hom;T>C	304;1|12
N	N	-	4	49213940	49213940	T	G	snp	downstream	 	 	 	 	AC118282.2																		rs7697121	0	0	0	1	0	0	intergenic	intergenic	downstream	CWH43(dist=149845),NONE(dist=NONE)	DQ579288(dist=8849),DQ583161(dist=22339)	ENSG00000249079	Na	Na	Na	Na	Na	Na	Het;T>G	96;1|4	Hom;T>G	108;0|5
N	N	-	4	5170214	5170214	C	T	snp	intronic	 	 	 	 	STK32B	Stk32b	ENSG00000152953	serine/threonine kinase 32B	chr4:5053169-5502725	This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Hip; Cleft Lip|Cleft Palate; Electrocardiography; Lipoproteins, LDL; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32B	https://www.uniprot.org/uniprot/Q9NY57			http://www.informatics.jax.org/searchtool/Search.do?query=STK32B&submit=Quick%0D%9609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32B	rs3749567	0.242013	0.2453	0.2610	1	0	0	intronic	intronic	intronic	STK32B	STK32B	ENSG00000152953	Na	Na	Na	Na	Na	Na	Het;C>T	484;25|23	Hom;C>T	1551;0|59
N	N	-	4	5170284	5170284	C	T	snp	intronic	 	 	 	 	STK32B	Stk32b	ENSG00000152953	serine/threonine kinase 32B	chr4:5053169-5502725	This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Tobacco Use Disorder; Hip; Cleft Lip|Cleft Palate; Electrocardiography; Lipoproteins, LDL; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK32B	https://www.uniprot.org/uniprot/Q9NY57			http://www.informatics.jax.org/searchtool/Search.do?query=STK32B&submit=Quick%0D%9609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32B	rs3749566	0.175319	0	0	1	0	0	intronic	intronic	intronic	STK32B	STK32B	ENSG00000152953	Na	Na	Na	Na	Na	Na	Het;C>T	168;1|7	Hom;C>T	293;0|10
N	N	-	4	53553158	53553158	C	T	snp	ncRNA_intronic	 	 	 	 	AC104066.2																		rs6851273	0.132987	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	USP46-AS1(dist=25493),DANCR(dist=25463)	USP46(dist=27656),DANCR(dist=25463)	ENSG00000260120	Na	Na	Na	Na	Na	Na	Het;C>T	73;2|4	Hom;C>T	111;0|4
N	N	-	4	54280705	54280706	GA	G	indel	intronic	 	 	 	 	FIP1L1	 	ENSG00000145216	factor interacting with PAPOLA and CPSF1	chr4:54243810-55161439	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Potassium	 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1	https://www.uniprot.org/uniprot/Q6UN15	https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607686	http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1	rs10719406	0	0	0	1	0	0	intronic	intronic	intronic	FIP1L1	FIP1L1,PDGFRA	ENSG00000145216	Na	Na	Na	Na	Na	Na	Het;-A	514;13|31	Hom;-A	269;2|17
N	N	-	4	54281075	54281075	C	T	snp	intronic	 	 	 	 	FIP1L1	 	ENSG00000145216	factor interacting with PAPOLA and CPSF1	chr4:54243810-55161439	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Potassium	 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1	https://www.uniprot.org/uniprot/Q6UN15	https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607686	http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1	rs7686876	0.457867	0	0	1	0	0	intronic	intronic	intronic	FIP1L1	FIP1L1,PDGFRA	ENSG00000145216	Na	Na	Na	Na	Na	Na	Het;C>T	70;1|3	Hom;C>T	119;0|4
N	N	-	4	54310058	54310058	C	A	snp	intronic	 	 	 	 	FIP1L1	 	ENSG00000145216	factor interacting with PAPOLA and CPSF1	chr4:54243810-55161439	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Potassium	 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1	https://www.uniprot.org/uniprot/Q6UN15	https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607686	http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1	rs28459503	0.459665	0	0	1	0	0	intronic	intronic	intronic	FIP1L1	FIP1L1,PDGFRA	ENSG00000145216	Na	Na	Na	Na	Na	Na	Het;C>A	86;5|6	Hom;C>A	111;0|5
N	N	-	4	54310188	54310188	A	G	snp	intronic	 	 	 	 	FIP1L1	 	ENSG00000145216	factor interacting with PAPOLA and CPSF1	chr4:54243810-55161439	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Potassium	 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1	https://www.uniprot.org/uniprot/Q6UN15	https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607686	http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1	rs11722866	0.457668	0.5634	0.5900	1	0	0	intronic	intronic	intronic	FIP1L1	FIP1L1,PDGFRA	ENSG00000145216	Na	Na	Na	Na	Na	Na	Het;A>G	1461;81|72	Hom;A>G	2661;2|104
N	N	-	4	54310281	54310281	T	G	snp	intronic	 	 	 	 	FIP1L1	 	ENSG00000145216	factor interacting with PAPOLA and CPSF1	chr4:54243810-55161439	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Potassium	 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1	https://www.uniprot.org/uniprot/Q6UN15	https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607686	http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1	rs11723755	0.466653	0.5714	0.5921	1	0	0	intronic	intronic	intronic	FIP1L1	FIP1L1,PDGFRA	ENSG00000145216	Na	Na	Na	Na	Na	Na	Het;T>G	1626;120|81	Hom;T>G	4741;2|181
N	N	-	4	54310340	54310341	TA	T	indel	intronic	 	 	 	 	FIP1L1	 	ENSG00000145216	factor interacting with PAPOLA and CPSF1	chr4:54243810-55161439	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Potassium	 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1	https://www.uniprot.org/uniprot/Q6UN15	https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607686	http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1	rs59279367	0.457468	0.5629	0	1	0	0	intronic	intronic	intronic	FIP1L1	FIP1L1,PDGFRA	ENSG00000145216	Na	Na	Na	Na	Na	Na	Het;-A	557;43|27	Hom;-A	1846;0|63
N	N	-	4	54327235	54327235	T	C	snp	intronic	 	 	 	 	LNX1	Lnx1	ENSG00000072201	ligand of numb-protein X 1	chr4:54325468-54567572	This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]	Cholesterol; Creatinine; Potassium; Diabetic Nephropathies; Thyrotropin; Glioma|Nervous System Neoplasms; Glomerular Filtration Rate; Mucocutaneous Lymph Node Syndrome; Body Fat Distribution; Tobacco Use Disorder; Blood Pressure	Mice homozygous for a targeted mutation exhibit an increased percentage of B1-like B cells in peritoneal lavage when compared with that of controls.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA|GO:0051260;protein homooligomerization;IEA	GO:0005737;cytoplasm;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0030165;PDZ domain binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LNX1	https://www.uniprot.org/uniprot/Q8TBB1		https://www.ncbi.nlm.nih.gov/omim/?term=609732	http://www.informatics.jax.org/searchtool/Search.do?query=LNX1&submit=Quick%0D%1427ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LNX1	rs3811785	0.456869	0.5642	0.5976	1	0	0	intronic	intronic	intronic	LNX1	LNX1,PDGFRA	ENSG00000072201,ENSG00000145216	Na	Na	Na	Na	Na	Na	Het;T>C	413;25|12	Hom;T>C	2576;0|70
N	N	-	4	5578358	5578358	G	A	snp	intronic	 	 	 	 	EVC2	Evc2	ENSG00000173040	EvC ciliary complex subunit 2	chr4:5544499-5711275	This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Socioeconomic Factors; Cleft Lip|Cleft Palate	Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology.	Activation of SMO	GO:0007224;smoothened signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/EVC2		https://hpo.jax.org/app/browse/search?q=EVC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607261	http://www.informatics.jax.org/searchtool/Search.do?query=EVC2&submit=Quick%0D%13280ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC2	rs112812794	0.0271565	0	0	1	0	0	intronic	intronic	intronic	EVC2	EVC2	ENSG00000173040	Na	Na	Na	Na	Na	Na	Het;G>A	82;6|4	Hom;G>A	144;0|5
N	N	-	4	56412545	56412545	C	G	snp	intronic	 	 	 	 	CLOCK	Clock	ENSG00000134852	clock circadian regulator	chr4:56294070-56413305	The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	anorexia nervosa bulimia; null; sleep and circadian rhythmicity; alcohol consumption; diurnal preference; autism; major depressive disorder; 5-flurouracil pharmacokinetics; Sleep Disorders; personality dimensions; personality; insomnia; Metabolic Syndrome X|Obesity|Overweight|Thinness|Weight Gain; neuropsychological performance; Obesity; prostate cancer; cluster headache; depression; Personality; seasonal affective disorder; schizophrenia | bipolar disorder; metabolic syndrome; obesity; Fatty Liver; Type 2 Diabetes| edema | rosiglitazone; circadian variability; depressive disorder, major; schizophrenia; cocaine abuse; Alcoholism; affective psychoses; sleep disorders; Bipolar Disorder; Endometriosis; esophageal cancer; Metabolic Syndrome X; schizophrenia | mood disorders; bipolar disorder; total energy intake and cytokine sleep factors ; depression sleep disorders	Mice homozygous for a knock-out allele exhibit abnormal circadian phase.  Mice homozygous for a spontaneous mutation exhibit abnormal circadian rhythm, reproduction, behavior, hair cycle, macronutrient absorption, and metabolism.	Circadian Clock	GO:0000077;DNA damage checkpoint;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007165;signal transduction;TAS|GO:0007283;spermatogenesis;IEA|GO:0007623;circadian rhythm;TAS|GO:0009648;photoperiodism;TAS|GO:0016573;histone acetylation;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0042634;regulation of hair cycle;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0048511;rhythmic process;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050796;regulation of insulin secretion;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051775;response to redox state;IDA|GO:0071479;cellular response to ionizing radiation;IDA|GO:2000074;regulation of type B pancreatic cell development;IEA|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IPI|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0033391;chromatoid body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLOCK	https://www.uniprot.org/uniprot/O15516		https://www.ncbi.nlm.nih.gov/omim/?term=601851	http://www.informatics.jax.org/searchtool/Search.do?query=CLOCK&submit=Quick%0D%7044ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLOCK	rs56154935	0.376997	0	0	1	0	0	intronic	intronic	intronic	CLOCK	CLOCK	ENSG00000134852	Na	Na	Na	Na	Na	Na	Het;C>G	134;4|8	Hom;C>G	80;0|5
N	N	-	4	56475338	56475338	G	A	snp	synonymous SNV	C228T	N76N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NMU	Nmu	ENSG00000109255	neuromedin U	chr4:56461396-56502865	This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide. [provided by RefSeq, Jul 2015]	Alzheimer Disease; obesity; Attention Deficit Disorder with Hyperactivity; Adiponectin; Tobacco Use Disorder	Homozygous null mice are healthy and viable.	G alpha (i) signalling events	GO:0001696;gastric acid secretion;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007218;neuropeptide signaling pathway;IEA|GO:0007586;digestion;TAS|GO:0009648;photoperiodism;IEA|GO:0019233;sensory perception of pain;IEA|GO:0042755;eating behavior;IEA|GO:0045987;positive regulation of smooth muscle contraction;IEA|GO:0046887;positive regulation of hormone secretion;IEA|GO:0050806;positive regulation of synaptic transmission;IEA	GO:0005576;extracellular region;TAS|GO:0043195;terminal bouton;IEA	GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0042922;neuromedin U receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NMU	https://www.uniprot.org/uniprot/P48645		https://www.ncbi.nlm.nih.gov/omim/?term=605103	http://www.informatics.jax.org/searchtool/Search.do?query=NMU&submit=Quick%0D%3835ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NMU	rs3805383	0.197085	0.2151	0.2312	1	0	0	exonic	exonic	exonic	NMU	NMU	ENSG00000109255	synonymous SNV	synonymous SNV	unknown	NMU:NM_001292046:exon4:c.C228T:p.N76N,NMU:NM_001292045:exon3:c.C180T:p.N60N,NMU:NM_006681:exon4:c.C228T:p.N76N,	NMU:uc003hbc.3:exon4:c.C228T:p.N76N,	UNKNOWN	Het;G>A	401;28|21	Hom;G>A	884;2|37
N	N	-	4	57187415	57187415	T	C	snp	ncRNA_exonic	 	 	 	 	MRPL22P1																		rs1401906	0.448882	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KIAA1211	KIAA1211	ENSG00000250324	Na	Na	Na	Na	Na	Na	Het;T>C	88;9|5	Hom;T>C	213;0|9
N	N	-	4	57187445	57187445	T	C	snp	ncRNA_exonic	 	 	 	 	MRPL22P1																		rs1356788	0.739417	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KIAA1211	KIAA1211	ENSG00000250324	Na	Na	Na	Na	Na	Na	Het;T>C	56;5|3	Hom;T>C	129;0|5
N	N	-	4	57189498	57189498	G	A	snp	intronic	 	 	 	 	KIAA1211	C530008M17Rik	ENSG00000109265	KIAA1211	chr4:57036361-57194791		Respiratory Function Tests; Prostatic Neoplasms; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA1211	https://www.uniprot.org/uniprot/Q6ZU35			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1211&submit=Quick%0D%3836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1211	rs2292985	0.550519	0.5500	0.6130	1	0	0	intronic	intronic	intronic	KIAA1211	KIAA1211	ENSG00000109265	Na	Na	Na	Na	Na	Na	Het;G>A	35;12|3	Hom;G>A	552;0|20
N	N	-	4	57193762	57193762	G	A	snp	intronic	 	 	 	 	KIAA1211	C530008M17Rik	ENSG00000109265	KIAA1211	chr4:57036361-57194791		Respiratory Function Tests; Prostatic Neoplasms; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA1211	https://www.uniprot.org/uniprot/Q6ZU35			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1211&submit=Quick%0D%3836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1211	rs6826795	0.729233	0.6663	0.7050	1	0	0	intronic	intronic	intronic	KIAA1211	KIAA1211	ENSG00000109265	Na	Na	Na	Na	Na	Na	Het;G>A	530;22|27	Hom;G>A	742;0|25
N	N	-	4	57213858	57213858	G	A	snp	intronic	 	 	 	 	AASDH	Aasdh	ENSG00000157426	aminoadipate-semialdehyde dehydrogenase	chr4:57204456-57253666	This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]		 		GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019482;beta-alanine metabolic process;IEA|GO:0043041;amino acid activation for nonribosomal peptide biosynthetic process;IEA		GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016878;acid-thiol ligase activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AASDH			https://www.ncbi.nlm.nih.gov/omim/?term=614365	http://www.informatics.jax.org/searchtool/Search.do?query=AASDH&submit=Quick%0D%10092ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AASDH	rs4864578	0.625	0	0	1	0	0	intronic	intronic	intronic	AASDH	AASDH	ENSG00000157426	Na	Na	Na	Na	Na	Na	Het;G>A	109;7|6	Hom;G>A	325;0|12
N	N	-	4	57219592	57219592	G	A	snp	synonymous SNV	C1554T	D518D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AASDH	Aasdh	ENSG00000157426	aminoadipate-semialdehyde dehydrogenase	chr4:57204456-57253666	This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]		 		GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019482;beta-alanine metabolic process;IEA|GO:0043041;amino acid activation for nonribosomal peptide biosynthetic process;IEA		GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016878;acid-thiol ligase activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AASDH			https://www.ncbi.nlm.nih.gov/omim/?term=614365	http://www.informatics.jax.org/searchtool/Search.do?query=AASDH&submit=Quick%0D%10092ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AASDH	rs6554348	0.645767	0.6285	0.6380	1	0	0	exonic	exonic	exonic	AASDH	AASDH	ENSG00000157426	synonymous SNV	synonymous SNV	unknown	AASDH:NM_001286668:exon8:c.C1254T:p.D418D,AASDH:NM_001286671:exon9:c.C1554T:p.D518D,AASDH:NM_181806:exon9:c.C1554T:p.D518D,AASDH:NM_001286670:exon6:c.C99T:p.D33D,AASDH:NM_001286672:exon9:c.C1554T:p.D518D,AASDH:NM_001286669:exon8:c.C1095T:p.D365D,	AASDH:uc003hbn.3:exon9:c.C1554T:p.D518D,AASDH:uc003hbo.3:exon8:c.C1254T:p.D418D,AASDH:uc011caa.2:exon8:c.C1095T:p.D365D,AASDH:uc010ihb.3:exon4:c.C99T:p.D33D,AASDH:uc010ihc.3:exon9:c.C1554T:p.D518D,AASDH:uc011cab.2:exon6:c.C99T:p.D33D,AASDH:uc003hbp.3:exon9:c.C1554T:p.D518D,	UNKNOWN	Het;G>A	656;37|32	Hom;G>A	903;0|36
N	N	-	4	57269646	57269646	A	AAAAG	indel	intronic	 	 	 	 	PPAT	Ppat	ENSG00000128059	phosphoribosyl pyrophosphate amidotransferase	chr4:57259528-57301781	The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]		 	Purine ribonucleoside monophosphate biosynthesis	GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001822;kidney development;IEA|GO:0006164;purine nucleotide biosynthetic process;TAS|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0006543;glutamine catabolic process;IEA|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0009113;purine nucleobase biosynthetic process;IEA|GO:0009116;nucleoside metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0019693;ribose phosphate metabolic process;IEA|GO:0031100;animal organ regeneration;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0035690;cellular response to drug;IEA|GO:0042493;response to drug;IEA|GO:0051289;protein homotetramerization;IEA|GO:0060135;maternal process involved in female pregnancy;IEA	GO:0005829;cytosol;TAS	GO:0003824;catalytic activity;IEA|GO:0004044;amidophosphoribosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPAT	https://www.uniprot.org/uniprot/Q06203		https://www.ncbi.nlm.nih.gov/omim/?term=172450	http://www.informatics.jax.org/searchtool/Search.do?query=PPAT&submit=Quick%0D%6101ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPAT	rs112538106	0.719649	0	0	1	0	0	intronic	intronic	intronic	PPAT	PPAT	ENSG00000128059	Na	Na	Na	Na	Na	Na	Het;+AAAG	280;7|10	Hom;+AAAG	593;0|14
N	N	-	4	58221648	58221648	A	G	snp	intergenic	 	 	 	 	RPS26P24																		rs1524675	0.563099	0	0	1	0	0	intergenic	intergenic	intergenic	IGFBP7-AS1(dist=150183),LOC101928851(dist=70390)	LOC255130(dist=150183),BC034799(dist=70390)	ENSG00000243920(dist=2153),ENSG00000248505(dist=70390)	Na	Na	Na	Na	Na	Na	Het;A>G	229;5|7	Hom;A>G	588;0|17
N	N	-	4	5827503	5827505	GCA	G	indel	intronic	 	 	 	 	CRMP1	Crmp1	ENSG00000072832	collapsin response mediator protein 1	chr4:5749811-5894785	This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Hemoglobin A, Glycosylated; Cleft Lip|Cleft Palate	Mice homozygous for one knock-out allele show transient postnatal changes in granule cell proliferation, apoptosis and migration in cerebellum and delayed radial migration of cortical neurons in cerebral cortex. Homozygotes for another knock-out allele show reduced LTP and impaired spatial learning.	CRMPs in Sema3A signaling	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0010977;negative regulation of neuron projection development;IGI|GO:0048666;neuron development;IEA|GO:1904530;negative regulation of actin filament binding;IDA	GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA	GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0031005;filamin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRMP1	https://www.uniprot.org/uniprot/Q14194		https://www.ncbi.nlm.nih.gov/omim/?term=602462	http://www.informatics.jax.org/searchtool/Search.do?query=CRMP1&submit=Quick%0D%1450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRMP1	rs10605297	0.293131	0	0	1	0	0	intronic	intronic	intronic	CRMP1	CRMP1	ENSG00000072832,ENSG00000072840	Na	Na	Na	Na	Na	Na	Het;-CA	132;3|5	Hom;-CA	230;0|7
N	N	-	4	5838513	5838513	C	G	snp	synonymous SNV	G1431C	T477T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CRMP1	Crmp1	ENSG00000072832	collapsin response mediator protein 1	chr4:5749811-5894785	This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Hemoglobin A, Glycosylated; Cleft Lip|Cleft Palate	Mice homozygous for one knock-out allele show transient postnatal changes in granule cell proliferation, apoptosis and migration in cerebellum and delayed radial migration of cortical neurons in cerebral cortex. Homozygotes for another knock-out allele show reduced LTP and impaired spatial learning.	CRMPs in Sema3A signaling	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0010977;negative regulation of neuron projection development;IGI|GO:0048666;neuron development;IEA|GO:1904530;negative regulation of actin filament binding;IDA	GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA	GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0031005;filamin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRMP1	https://www.uniprot.org/uniprot/Q14194		https://www.ncbi.nlm.nih.gov/omim/?term=602462	http://www.informatics.jax.org/searchtool/Search.do?query=CRMP1&submit=Quick%0D%1450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRMP1	rs12331	0.588658	0.5811	0.4794	1	0	0	exonic	exonic	exonic	CRMP1	CRMP1	ENSG00000072832	synonymous SNV	synonymous SNV	unknown	CRMP1:NM_001288661:exon10:c.G1083C:p.T361T,CRMP1:NM_001288662:exon10:c.G1071C:p.T357T,CRMP1:NM_001313:exon10:c.G1089C:p.T363T,CRMP1:NM_001014809:exon10:c.G1431C:p.T477T,	CRMP1:uc003gis.3:exon10:c.G1431C:p.T477T,CRMP1:uc003gir.3:exon10:c.G1074C:p.T358T,CRMP1:uc003giq.3:exon10:c.G1089C:p.T363T,	UNKNOWN	Het;C>G	1715;93|82	Hom;C>G	4455;2|169
N	N	-	4	59232056	59232056	C	CTCAG	indel	intergenic	 	 	 	 	AC096725.1																		rs139226840	0.868211	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928851(dist=899904),NONE(dist=NONE)	BC034799(dist=899904),NONE(dist=NONE)	ENSG00000249105(dist=247820),ENSG00000250340(dist=158624)	Na	Na	Na	Na	Na	Na	Het;+TCAG	38;3|2	Hom;+TCAG	143;0|4
N	N	-	4	59333965	59333965	A	G	snp	intergenic	 	 	 	 	AC096725.1																		rs62317615	0.0984425	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928851(dist=1001813),NONE(dist=NONE)	BC034799(dist=1001813),NONE(dist=NONE)	ENSG00000249105(dist=349729),ENSG00000250340(dist=56715)	Na	Na	Na	Na	Na	Na	Het;A>G	143;10|8	Hom;A>G	614;0|19
N	N	-	4	59395499	59395499	C	CA	indel	ncRNA_intronic	 	 	 	 	AC019133.2																		rs143163143	0.394768	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101928851(dist=1063347),NONE(dist=NONE)	BC034799(dist=1063347),NONE(dist=NONE)	ENSG00000250340	Na	Na	Na	Na	Na	Na	Het;+A	101;10|7	Hom;+A	412;2|17
N	N	-	4	60862327	60862327	A	G	snp	intergenic	 	 	 	 	RNU6-1325P																		rs1585416	0.454273	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR548AG1(dist=926010)	NONE(dist=NONE),LPHN3(dist=1204647)	ENSG00000201775(dist=162442),ENSG00000216027(dist=667340)	Na	Na	Na	Na	Na	Na	Het;A>G	407;8|15	Hom;A>G	672;0|22
N	N	-	4	61112775	61112777	GGA	G	indel	intergenic	 	 	 	 	RNU6-1325P																		rs144992581	0.404153	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),MIR548AG1(dist=675560)	NONE(dist=NONE),LPHN3(dist=954197)	ENSG00000201775(dist=412890),ENSG00000216027(dist=416890)	Na	Na	Na	Na	Na	Na	Het;-GA	681;12|24	Hom;-GA	801;0|24
N	N	-	4	6264394	6264394	C	T	snp	intergenic	 	 	 	 	ENSG00000269908																		rs4689386	0.628794	0	0	1	0	0	intergenic	intergenic	intergenic	LOC285484(dist=28731),WFS1(dist=7183)	NONE(dist=NONE),WFS1(dist=7183)	ENSG00000269908(dist=22730),ENSG00000109501(dist=7182)	Na	Na	Na	Na	Na	Na	Het;C>T	805;13|37	Hom;C>T	1173;0|47
N	N	-	4	6271826	6271826	T	C	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs6830765	0.669129	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;T>C	50;3|4	Hom;T>C	252;0|10
N	N	-	4	6279504	6279504	G	A	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs28420833	0.679113	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;G>A	187;7|10	Hom;G>A	272;0|11
N	N	-	4	6285228	6285228	C	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs4343789	0.715455	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>G	86;1|4	Hom;C>G	161;0|6
N	N	-	4	6290594	6290594	T	C	snp	UTR5	-2416T>C	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs4688989	0.748203	0	0	1	0	0	intronic	UTR5	intronic	WFS1	WFS1(uc003giz.3:c.-2416T>C)	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;T>C	209;13|10	Hom;T>C	713;0|22
N	N	-	4	6291003	6291003	C	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs4689394	0.733826	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>G	110;3|4	Hom;C>G	293;0|8
N	N	-	4	6292716	6292716	G	C	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs11732208	0.728834	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;G>C	32;6|2	Hom;G>C	301;0|8
N	N	-	4	6292755	6292755	C	CAGGGGCATG	indel	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs55640037	0.401558	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;+AGGGGCATG	218;11|5	Hom;+AGGGGCATG	852;0|13
N	N	-	4	6292758	6292758	G	GCA	indel	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs56102017	0.370008	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;+CA	245;14|7	Hom;+CA	954;0|20
N	N	-	4	6292799	6292799	A	C	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs5018647	0.730232	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;A>C	691;29|26	Hom;A>C	1691;0|49
N	N	-	4	6292818	6292818	C	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs5018648	0.730431	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>G	843;46|35	Hom;C>G	2175;0|68
N	N	-	4	6292909	6292909	C	T	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs9998519	0.715056	0.6163	0.6513	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>T	4025;130|110	Hom;C>T	8576;0|194
N	N	-	4	6292915	6292915	A	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs10010131	0.728834	0.6254	0.6555	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;A>G	4025;130|108	Hom;A>G	8759;0|201
N	N	-	4	6293838	6293838	A	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs11729672	0.728235	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;A>G	1123;26|33	Hom;A>G	1842;0|46
N	N	-	4	6293855	6293855	C	T	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs11725494	0.679513	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>T	900;65|25	Hom;C>T	1641;0|36
N	N	-	4	6293919	6293919	C	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs11725500	0.728435	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>G	65;6|3	Hom;C>G	216;0|6
N	N	-	4	6295565	6295565	C	T	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs6446480	0.708866	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>T	342;9|13	Hom;C>T	737;0|23
N	N	-	4	6295583	6295583	C	A	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs6446481	0.713259	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>A	307;14|13	Hom;C>A	917;0|31
N	N	-	4	6295693	6295693	C	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs6446482	0.721246	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;C>G	910;78|43	Hom;C>G	3016;2|110
N	N	-	4	6295750	6295750	A	G	snp	intronic	 	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs6820509	0.472045	0	0	1	0	0	intronic	intronic	intronic	WFS1	WFS1	ENSG00000109501	Na	Na	Na	Na	Na	Na	Het;A>G	579;57|32	Hom;A>G	2037;2|74
N	N	-	4	62992668	62992668	T	TA	indel	ncRNA_intronic	 	 	 	 	ADGRL3-AS1																		rs35014003	0.76238	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	ADGRL3-AS1	BC039452(dist=48617),NONE(dist=NONE)	ENSG00000248692	Na	Na	Na	Na	Na	Na	Het;+A	176;4|9	Hom;+A	156;1|8
N	N	-	4	6302707	6302707	C	T	snp	synonymous SNV	C1185T	V395V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs1801206	0.641573	0.5531	0.6245	1	0	0	exonic	exonic	exonic	WFS1	WFS1	ENSG00000109501	synonymous SNV	synonymous SNV	unknown	WFS1:NM_006005:exon8:c.C1185T:p.V395V,WFS1:NM_001145853:exon8:c.C1185T:p.V395V,	WFS1:uc003gix.3:exon8:c.C1185T:p.V395V,WFS1:uc003giz.3:exon5:c.C639T:p.V213V,WFS1:uc003giy.3:exon8:c.C1185T:p.V395V,	UNKNOWN	Het;C>T	2486;153|118	Hom;C>T	6611;3|243
N	N	-	4	6303022	6303022	C	T	snp	synonymous SNV	C1500T	N500N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs1801214	0.729433	0.6323	0.6595	1	0	0	exonic	exonic	exonic	WFS1	WFS1	ENSG00000109501	synonymous SNV	synonymous SNV	unknown	WFS1:NM_006005:exon8:c.C1500T:p.N500N,WFS1:NM_001145853:exon8:c.C1500T:p.N500N,	WFS1:uc003gix.3:exon8:c.C1500T:p.N500N,WFS1:uc003giz.3:exon5:c.C954T:p.N318N,WFS1:uc003giy.3:exon8:c.C1500T:p.N500N,	UNKNOWN	Het;C>T	1843;86|85	Hom;C>T	5004;0|192
N	N	-	4	6303354	6303354	G	A	snp	nonsynonymous SNV	G1832A	R611H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs734312	0.469249	0.4012	0.5367	0.46	6	13	exonic	exonic	exonic	WFS1	WFS1	ENSG00000109501	nonsynonymous SNV	nonsynonymous SNV	unknown	WFS1:NM_006005:exon8:c.G1832A:p.R611H,WFS1:NM_001145853:exon8:c.G1832A:p.R611H,	WFS1:uc003gix.3:exon8:c.G1832A:p.R611H,WFS1:uc003giz.3:exon5:c.G1286A:p.R429H,WFS1:uc003giy.3:exon8:c.G1832A:p.R611H,	UNKNOWN	Het;G>A	2482;78|112	Hom;G>A	4893;0|173
N	N	-	4	6303955	6303955	G	A	snp	synonymous SNV	G2433A	K811K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs1046314	0.653155	0.5659	0.6294	1	0	0	exonic	exonic	exonic	WFS1	WFS1	ENSG00000109501	synonymous SNV	synonymous SNV	unknown	WFS1:NM_006005:exon8:c.G2433A:p.K811K,WFS1:NM_001145853:exon8:c.G2433A:p.K811K,	WFS1:uc003gix.3:exon8:c.G2433A:p.K811K,WFS1:uc003giz.3:exon5:c.G1887A:p.K629K,WFS1:uc003giy.3:exon8:c.G2433A:p.K811K,	UNKNOWN	Het;G>A	1132;53|56	Hom;G>A	2352;2|84
N	N	-	4	6304344	6304344	G	A	snp	UTR3	*149G>A	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs1046320	0.606629	0	0	1	0	0	UTR3	UTR3	UTR3	WFS1(NM_001145853:c.*149G>A,NM_006005:c.*149G>A)	WFS1(uc003giy.3:c.*149G>A,uc003gix.3:c.*149G>A,uc003giz.3:c.*149G>A)	ENSG00000109501(ENST00000503569:c.*149G>A,ENST00000226760:c.*149G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	658;46|32	Hom;G>A	1257;0|46
N	N	-	4	6304799	6304799	G	C	snp	UTR3	*604G>C	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs9457	0.626198	0	0	1	0	0	UTR3	UTR3	UTR3	WFS1(NM_001145853:c.*604G>C,NM_006005:c.*604G>C)	WFS1(uc003giy.3:c.*604G>C,uc003gix.3:c.*604G>C,uc003giz.3:c.*604G>C)	ENSG00000109501(ENST00000226760:c.*604G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1089;37|47	Hom;G>C	1891;0|65
N	N	-	4	6304878	6304878	C	T	snp	UTR3	*683C>T	 	 	 	WFS1	Wfs1	ENSG00000109501	wolframin ER transmembrane glycoprotein	chr4:6271576-6304992	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease	Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance.  Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.	Post-translational protein phosphorylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WFS1	https://www.uniprot.org/uniprot/O76024	https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606201	http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1	rs3200	0.647564	0	0	1	0	0	UTR3	UTR3	UTR3	WFS1(NM_001145853:c.*683C>T,NM_006005:c.*683C>T)	WFS1(uc003giy.3:c.*683C>T,uc003gix.3:c.*683C>T,uc003giz.3:c.*683C>T)	ENSG00000109501(ENST00000226760:c.*683C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	709;32|33	Hom;C>T	1490;0|57
N	N	-	4	64473089	64473089	G	A	snp	intergenic	 	 	 	 	AC093730.1																		rs6848270	0.498802	0	0	1	0	0	intergenic	intergenic	intergenic	ADGRL3-AS1(dist=1445606),TECRL(dist=671088)	BC039452(dist=1529038),TECRL(dist=671088)	ENSG00000250775(dist=113093),ENSG00000205678(dist=667886)	Na	Na	Na	Na	Na	Na	Het;G>A	2143;96|104	Hom;G>A	5085;0|195
N	N	-	4	65475030	65475030	G	C	snp	ncRNA_exonic	 	 	 	 	MTND6P16																		rs10434236	0.380192	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TECRL(dist=199852),LOC401134(dist=304969)	TECRL(dist=199852),LOC401134(dist=304969)	ENSG00000249893	Na	Na	Na	Na	Na	Na	Het;G>C	129;1|6	Hom;G>C	150;0|6
N	N	-	4	6676485	6676485	G	A	snp	UTR3	*186G>A	 	 	 	LOC93622																		rs7662433	0.223642	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_intronic	LOC93622	LOC93622(uc021xlb.1:c.*186G>A)	ENSG00000170846	Na	Na	Na	Na	Na	Na	Het;G>A	142;9|8	Hom;G>A	302;1|14
N	N	-	4	6691630	6691630	G	A	snp	ncRNA_intronic	 	 	 	 	AC093323.2																		rs73211729	0.435304	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC93622(dist=13856),S100P(dist=3936)	LOC93622(dist=13856),S100P(dist=3936)	ENSG00000246526	Na	Na	Na	Na	Na	Na	Het;G>A	53;2|4	Hom;G>A	71;0|4
N	N	-	4	68284172	68284172	A	C	snp	ncRNA_exonic	 	 	 	 	LOC101927237																		rs10009461	0.708466	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927237	AK093203	ENSG00000250075	Na	Na	Na	Na	Na	Na	Het;A>C	2318;109|105	Hom;A>C	5925;0|191
N	N	-	4	68284279	68284279	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101927237																		rs10019750	0.707867	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927237	AK093203	ENSG00000250075	Na	Na	Na	Na	Na	Na	Het;G>A	1730;120|87	Hom;G>A	5387;2|201
N	N	-	4	68286533	68286533	G	T	snp	ncRNA_exonic	 	 	 	 	AC104806.2																		rs2291808	0.715455	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LOC101927237	AK093203	ENSG00000250075	Na	Na	Na	Na	Na	Na	Het;G>T	171;2|7	Hom;G>T	406;0|12
N	N	-	4	68286626	68286626	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101927237																		rs2291807	0.716853	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927237	AK093203	ENSG00000250075	Na	Na	Na	Na	Na	Na	Het;A>G	1015;38|43	Hom;A>G	1882;0|61
N	N	-	4	68311813	68311813	T	TACCGCCACCGCC	indel	ncRNA_intronic	 	 	 	 	AK093203																		rs11267830	0.73123	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	LOC101927237(dist=24095),CENPC(dist=26176)	AK093203	ENSG00000250075	Na	Na	Na	Na	Na	Na	Het;+ACCGCCACCGCC	135;6|3	Hom;+ACCGCCACCGCC	233;0|6
N	N	-	4	68338199	68338199	G	C	snp	UTR3	*124C>G	 	 	 	CENPC	Cenpc1	ENSG00000145241	centromere protein C	chr4:68337521-68411324	Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]	Parkinson Disease; multiple sclerosis (severity); Bipolar Disorder; Cholesterol	Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities.	Mitotic Prometaphase	GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0051382;kinetochore assembly;IMP|GO:0051455;attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation;IBA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;TAS|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IBA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0003677;DNA binding;TAS|GO:0019237;centromeric DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CENPC	https://www.uniprot.org/uniprot/Q03188		https://www.ncbi.nlm.nih.gov/omim/?term=117141	http://www.informatics.jax.org/searchtool/Search.do?query=CENPC&submit=Quick%0D%8710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPC	rs7662513	0.884585	0	0	1	0	0	UTR3	UTR3	UTR3	CENPC(NM_001812:c.*124C>G)	CENPC1(uc003hdd.1:c.*124C>G)	ENSG00000145241(ENST00000273853:c.*124C>G,ENST00000513216:c.*608C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	39;2|2	Hom;G>C	135;0|4
N	N	-	4	68360955	68360955	A	G	snp	intronic	 	 	 	 	CENPC	Cenpc1	ENSG00000145241	centromere protein C	chr4:68337521-68411324	Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]	Parkinson Disease; multiple sclerosis (severity); Bipolar Disorder; Cholesterol	Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities.	Mitotic Prometaphase	GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0051382;kinetochore assembly;IMP|GO:0051455;attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation;IBA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;TAS|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IBA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0003677;DNA binding;TAS|GO:0019237;centromeric DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CENPC	https://www.uniprot.org/uniprot/Q03188		https://www.ncbi.nlm.nih.gov/omim/?term=117141	http://www.informatics.jax.org/searchtool/Search.do?query=CENPC&submit=Quick%0D%8710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPC	rs2646282	0.884385	0.8761	0.8933	1	0	0	intronic	intronic	intronic	CENPC	CENPC1	ENSG00000145241	Na	Na	Na	Na	Na	Na	Het;A>G	642;16|32	Hom;A>G	1365;0|53
N	N	-	4	68372376	68372376	G	C	snp	intronic	 	 	 	 	CENPC	Cenpc1	ENSG00000145241	centromere protein C	chr4:68337521-68411324	Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]	Parkinson Disease; multiple sclerosis (severity); Bipolar Disorder; Cholesterol	Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities.	Mitotic Prometaphase	GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0051382;kinetochore assembly;IMP|GO:0051455;attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation;IBA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;TAS|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IBA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0003677;DNA binding;TAS|GO:0019237;centromeric DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CENPC	https://www.uniprot.org/uniprot/Q03188		https://www.ncbi.nlm.nih.gov/omim/?term=117141	http://www.informatics.jax.org/searchtool/Search.do?query=CENPC&submit=Quick%0D%8710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPC	rs355513	0.702875	0	0	1	0	0	intronic	intronic	intronic	CENPC	CENPC1	ENSG00000145241	Na	Na	Na	Na	Na	Na	Het;G>C	104;5|4	Hom;G>C	225;0|7
N	N	-	4	68374597	68374597	C	T	snp	synonymous SNV	G1839A	S613S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CENPC1																		rs1056789	0.700479	0.6133	0.6546	1	0	0	exonic	exonic	exonic	CENPC	CENPC1	ENSG00000145241	synonymous SNV	synonymous SNV	unknown	CENPC:NM_001812:exon10:c.G1839A:p.S613S,	CENPC1:uc010ihm.1:exon10:c.G1839A:p.S613S,CENPC1:uc003hdd.1:exon10:c.G1839A:p.S613S,	UNKNOWN	Het;C>T	1528;75|68	Hom;C>T	3031;2|118
N	N	-	4	68380215	68380215	G	A	snp	nonsynonymous SNV	C1021T	L341F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CENPC	Cenpc1	ENSG00000145241	centromere protein C	chr4:68337521-68411324	Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]	Parkinson Disease; multiple sclerosis (severity); Bipolar Disorder; Cholesterol	Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities.	Mitotic Prometaphase	GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0051382;kinetochore assembly;IMP|GO:0051455;attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation;IBA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;TAS|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IBA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0003677;DNA binding;TAS|GO:0019237;centromeric DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CENPC	https://www.uniprot.org/uniprot/Q03188		https://www.ncbi.nlm.nih.gov/omim/?term=117141	http://www.informatics.jax.org/searchtool/Search.do?query=CENPC&submit=Quick%0D%8710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPC	rs11250	0.700679	0.6118	0.6572	0.25	3	12	exonic	exonic	exonic	CENPC	CENPC1	ENSG00000145241	nonsynonymous SNV	nonsynonymous SNV	unknown	CENPC:NM_001812:exon8:c.C1021T:p.L341F,	CENPC1:uc010ihm.1:exon8:c.C1021T:p.L341F,CENPC1:uc003hdd.1:exon8:c.C1021T:p.L341F,	UNKNOWN	Het;G>A	2966;128|134	Hom;G>A	6757;2|242
N	N	-	4	68384008	68384008	C	T	snp	synonymous SNV	G696A	S232S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CENPC1																		rs355510	0.704273	0.6057	0.6176	1	0	0	exonic	exonic	exonic	CENPC	CENPC1	ENSG00000145241	synonymous SNV	synonymous SNV	unknown	CENPC:NM_001812:exon7:c.G696A:p.S232S,	CENPC1:uc010ihm.1:exon7:c.G696A:p.S232S,CENPC1:uc003hdd.1:exon7:c.G696A:p.S232S,	UNKNOWN	Het;C>T	746;56|38	Hom;C>T	2159;0|82
N	N	-	4	68384861	68384861	G	T	snp	intronic	 	 	 	 	CENPC	Cenpc1	ENSG00000145241	centromere protein C	chr4:68337521-68411324	Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]	Parkinson Disease; multiple sclerosis (severity); Bipolar Disorder; Cholesterol	Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities.	Mitotic Prometaphase	GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0051382;kinetochore assembly;IMP|GO:0051455;attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation;IBA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;TAS|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IBA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0003677;DNA binding;TAS|GO:0019237;centromeric DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CENPC	https://www.uniprot.org/uniprot/Q03188		https://www.ncbi.nlm.nih.gov/omim/?term=117141	http://www.informatics.jax.org/searchtool/Search.do?query=CENPC&submit=Quick%0D%8710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPC	rs355507	0.690495	0	0	1	0	0	intronic	intronic	intronic	CENPC	CENPC1	ENSG00000145241	Na	Na	Na	Na	Na	Na	Het;G>T	86;5|4	Hom;G>T	300;0|10
N	N	-	4	68396525	68396525	G	C	snp	intronic	 	 	 	 	CENPC	Cenpc1	ENSG00000145241	centromere protein C	chr4:68337521-68411324	Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]	Parkinson Disease; multiple sclerosis (severity); Bipolar Disorder; Cholesterol	Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities.	Mitotic Prometaphase	GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0051382;kinetochore assembly;IMP|GO:0051455;attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation;IBA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;TAS|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IBA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA	GO:0003677;DNA binding;TAS|GO:0019237;centromeric DNA binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CENPC	https://www.uniprot.org/uniprot/Q03188		https://www.ncbi.nlm.nih.gov/omim/?term=117141	http://www.informatics.jax.org/searchtool/Search.do?query=CENPC&submit=Quick%0D%8710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPC	rs355477	0.704273	0.6128	0.6471	1	0	0	intronic	intronic	intronic	CENPC	CENPC1	ENSG00000145241	Na	Na	Na	Na	Na	Na	Het;G>C	261;28|14	Hom;G>C	1413;0|51
N	N	-	4	70048146	70048146	G	A	snp	ncRNA_intronic	 	 	 	 	AC111000.4																		rs6813586	0.902955	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B7(dist=69441),UGT2B11(dist=17905)	UGT2B7(dist=69441),UGT2B11(dist=17905)	ENSG00000250696	Na	Na	Na	Na	Na	Na	Het;G>A	1116;21|29	Hom;G>A	1707;0|44
N	N	-	4	70078507	70078507	A	G	snp	ncRNA_intronic	 	 	 	 	AK124272																		rs62298956	0.234625	0	0	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	UGT2B11	AK124272	ENSG00000250696	Na	Na	Na	Na	Na	Na	Het;A>G	604;29|25	Hom;A>G	2016;1|69
N	N	-	4	70109019	70109019	C	G	snp	ncRNA_exonic	 	 	 	 	AC114786.1																		rs62296608	0.222444	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UGT2B11(dist=28570),UGT2B28(dist=37198)	AK124272(dist=26535),UGT2B28(dist=37198)	ENSG00000249763	Na	Na	Na	Na	Na	Na	Het;C>G	499;34|25	Hom;C>G	2470;0|86
N	N	-	4	70144180	70144180	C	G	snp	intergenic	 	 	 	 	AC114786.1																		rs139311202	0	0	0	1	0	0	intergenic	intergenic	intergenic	UGT2B11(dist=63731),UGT2B28(dist=2037)	AK124272(dist=61696),UGT2B28(dist=2037)	ENSG00000249763(dist=27647),ENSG00000135226(dist=2037)	Na	Na	Na	Na	Na	Na	Het;C>G	80;22|8	Hom;C>G	522;0|22
N	N	-	4	70253602	70253602	T	C	snp	ncRNA_exonic	 	 	 	 	AC114786.4																		rs7685139	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UGT2B28(dist=92834),UGT2B4(dist=92281)	UGT2B28(dist=92834),UGT2B4(dist=92281)	ENSG00000268209	Na	Na	Na	Na	Na	Na	Het;T>C	174;29|8	Hom;T>C	1286;0|34
N	N	-	4	70254777	70254777	G	A	snp	upstream;downstream	 	 	 	 	ENSG00000215110																		rs62306681	0.206869	0	0	1	0	0	intergenic	intergenic	upstream;downstream	UGT2B28(dist=94009),UGT2B4(dist=91106)	UGT2B28(dist=94009),UGT2B4(dist=91106)	ENSG00000215110;ENSG00000268209	Na	Na	Na	Na	Na	Na	Het;G>A	254;4|10	Hom;G>A	277;0|9
N	N	-	4	70254823	70254823	G	T	snp	upstream;downstream	 	 	 	 	ENSG00000215110																		rs79730000	0.206869	0	0	1	0	0	intergenic	intergenic	upstream;downstream	UGT2B28(dist=94055),UGT2B4(dist=91060)	UGT2B28(dist=94055),UGT2B4(dist=91060)	ENSG00000215110;ENSG00000268209	Na	Na	Na	Na	Na	Na	Het;G>T	898;10|22	Hom;G>T	1582;0|32
N	N	-	4	70254848	70254848	C	T	snp	upstream;downstream	 	 	 	 	ENSG00000215110																		rs13127281	0.419529	0	0	1	0	0	intergenic	intergenic	upstream;downstream	UGT2B28(dist=94080),UGT2B4(dist=91035)	UGT2B28(dist=94080),UGT2B4(dist=91035)	ENSG00000215110;ENSG00000268209	Na	Na	Na	Na	Na	Na	Het;C>T	1213;19|31	Hom;C>T	2256;0|47
N	N	-	4	70254850	70254850	C	T	snp	upstream;downstream	 	 	 	 	ENSG00000215110																		rs55694717	0.206869	0	0	1	0	0	intergenic	intergenic	upstream;downstream	UGT2B28(dist=94082),UGT2B4(dist=91033)	UGT2B28(dist=94082),UGT2B4(dist=91033)	ENSG00000215110;ENSG00000268209	Na	Na	Na	Na	Na	Na	Het;C>T	1296;20|31	Hom;C>T	2306;0|51
N	N	-	4	70254870	70254870	T	C	snp	upstream;downstream	 	 	 	 	ENSG00000215110																		rs55719150	0.206869	0	0	1	0	0	intergenic	intergenic	upstream;downstream	UGT2B28(dist=94102),UGT2B4(dist=91013)	UGT2B28(dist=94102),UGT2B4(dist=91013)	ENSG00000215110;ENSG00000268209	Na	Na	Na	Na	Na	Na	Het;T>C	1325;27|37	Hom;T>C	2917;0|75
N	N	-	4	70255054	70255058	CTTTG	C	indel	upstream	 	 	 	 	UGT2B25P																		rs113503669	0.207069	0	0	1	0	0	intergenic	intergenic	upstream	UGT2B28(dist=94286),UGT2B4(dist=90825)	UGT2B28(dist=94286),UGT2B4(dist=90825)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;-TTTG	362;19|11	Hom;-TTTG	1403;0|32
N	N	-	4	70255088	70255088	A	T	snp	upstream	 	 	 	 	UGT2B25P																		rs56223759	0.204273	0	0	1	0	0	intergenic	intergenic	upstream	UGT2B28(dist=94320),UGT2B4(dist=90795)	UGT2B28(dist=94320),UGT2B4(dist=90795)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;A>T	169;15|8	Hom;A>T	752;0|22
N	N	-	4	70255204	70255204	A	C	snp	upstream	 	 	 	 	UGT2B25P																		rs56313109	0.206869	0	0	1	0	0	intergenic	intergenic	upstream	UGT2B28(dist=94436),UGT2B4(dist=90679)	UGT2B28(dist=94436),UGT2B4(dist=90679)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;A>C	1902;64|80	Hom;A>C	4070;0|141
N	N	-	4	70255961	70255961	A	G	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs12505338	0.179912	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=95193),UGT2B4(dist=89922)	UGT2B28(dist=95193),UGT2B4(dist=89922)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;A>G	2354;54|61	Hom;A>G	3021;1|82
N	N	-	4	70256635	70256635	T	C	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs4282254	0.20627	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=95867),UGT2B4(dist=89248)	UGT2B28(dist=95867),UGT2B4(dist=89248)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;T>C	82;2|3	Hom;T>C	171;0|5
N	N	-	4	70257118	70257118	G	C	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs4643883	0.209065	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=96350),UGT2B4(dist=88765)	UGT2B28(dist=96350),UGT2B4(dist=88765)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;G>C	550;27|24	Hom;G>C	1808;0|58
N	N	-	4	70257364	70257364	T	A	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs7436170	0.199281	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=96596),UGT2B4(dist=88519)	UGT2B28(dist=96596),UGT2B4(dist=88519)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;T>A	2956;107|94	Hom;T>A	6909;2|178
N	N	-	4	70257386	70257386	G	T	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs4105055	0.40615	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=96618),UGT2B4(dist=88497)	UGT2B28(dist=96618),UGT2B4(dist=88497)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;G>T	2262;82|60	Hom;G>T	5603;2|127
N	N	-	4	70257524	70257524	G	T	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs4105056	0.208466	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=96756),UGT2B4(dist=88359)	UGT2B28(dist=96756),UGT2B4(dist=88359)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;G>T	92;2|3	Hom;G>T	289;0|8
N	N	-	4	70258739	70258739	T	G	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs7671727	0.209864	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=97971),UGT2B4(dist=87144)	UGT2B28(dist=97971),UGT2B4(dist=87144)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;T>G	128;3|6	Hom;T>G	431;0|15
N	N	-	4	70261391	70261391	G	T	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs12500613	0.405751	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=100623),UGT2B4(dist=84492)	UGT2B28(dist=100623),UGT2B4(dist=84492)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;G>T	714;38|34	Hom;G>T	2167;0|78
N	N	-	4	70261469	70261469	G	C	snp	ncRNA_exonic	 	 	 	 	UGT2B25P																		rs12500647	0.209864	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UGT2B28(dist=100701),UGT2B4(dist=84414)	UGT2B28(dist=100701),UGT2B4(dist=84414)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;G>C	1351;66|64	Hom;G>C	3286;0|119
N	N	-	4	70265290	70265290	C	A	snp	ncRNA_exonic	 	 	 	 	UGT2B25P																		rs62306699	0.209864	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UGT2B28(dist=104522),UGT2B4(dist=80593)	UGT2B28(dist=104522),UGT2B4(dist=80593)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;C>A	1563;52|42	Hom;C>A	3271;0|73
N	N	-	4	70265292	70265292	A	G	snp	ncRNA_exonic	 	 	 	 	UGT2B25P																		rs62306700	0.209665	0	0	0.33	1	3	intergenic	intergenic	ncRNA_exonic	UGT2B28(dist=104524),UGT2B4(dist=80591)	UGT2B28(dist=104524),UGT2B4(dist=80591)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;A>G	1563;52|41	Hom;A>G	3271;0|74
N	N	-	4	70265463	70265463	T	A	snp	ncRNA_exonic	 	 	 	 	UGT2B25P																		rs62306701	0.209864	0	0	0.33	1	3	intergenic	intergenic	ncRNA_exonic	UGT2B28(dist=104695),UGT2B4(dist=80420)	UGT2B28(dist=104695),UGT2B4(dist=80420)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;T>A	963;36|45	Hom;T>A	2377;2|92
N	N	-	4	70265533	70265533	G	C	snp	ncRNA_intronic	 	 	 	 	UGT2B25P																		rs35138882	0.40595	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=104765),UGT2B4(dist=80350)	UGT2B28(dist=104765),UGT2B4(dist=80350)	ENSG00000215110	Na	Na	Na	Na	Na	Na	Het;G>C	403;11|14	Hom;G>C	782;0|24
N	N	-	4	70273470	70273470	A	C	snp	downstream	 	 	 	 	AC108078.1																		rs68047917	0.210863	0	0	1	0	0	intergenic	intergenic	downstream	UGT2B28(dist=112702),UGT2B4(dist=72413)	UGT2B28(dist=112702),UGT2B4(dist=72413)	ENSG00000248824	Na	Na	Na	Na	Na	Na	Het;A>C	89;17|7	Hom;A>C	302;0|12
N	N	-	4	70274234	70274234	T	C	snp	upstream;downstream	 	 	 	 	ENSG00000249956																		rs61470463	0.212859	0	0	1	0	0	intergenic	intergenic	upstream;downstream	UGT2B28(dist=113466),UGT2B4(dist=71649)	UGT2B28(dist=113466),UGT2B4(dist=71649)	ENSG00000249956;ENSG00000248824	Na	Na	Na	Na	Na	Na	Het;T>C	295;16|15	Hom;T>C	975;0|36
N	N	-	4	70274557	70274557	G	A	snp	ncRNA_exonic	 	 	 	 	UGT2B24P																		rs12509072	0.210863	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UGT2B28(dist=113789),UGT2B4(dist=71326)	UGT2B28(dist=113789),UGT2B4(dist=71326)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;G>A	950;56|45	Hom;G>A	1702;1|61
N	N	-	4	70274904	70274904	A	G	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs12499133	0.210863	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=114136),UGT2B4(dist=70979)	UGT2B28(dist=114136),UGT2B4(dist=70979)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;A>G	663;40|27	Hom;A>G	2103;0|66
N	N	-	4	70274929	70274929	A	C	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs12499137	0.213059	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=114161),UGT2B4(dist=70954)	UGT2B28(dist=114161),UGT2B4(dist=70954)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;A>C	783;47|32	Hom;A>C	2217;0|66
N	N	-	4	70275019	70275019	C	T	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs12512886	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=114251),UGT2B4(dist=70864)	UGT2B28(dist=114251),UGT2B4(dist=70864)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;C>T	677;117|44	Hom;C>T	2689;2|95
N	N	-	4	70275039	70275039	C	A	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs12512889	0.210064	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=114271),UGT2B4(dist=70844)	UGT2B28(dist=114271),UGT2B4(dist=70844)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;C>A	1352;126|42	Hom;C>A	3870;2|91
N	N	-	4	70275044	70275044	C	T	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs12512890	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=114276),UGT2B4(dist=70839)	UGT2B28(dist=114276),UGT2B4(dist=70839)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;C>T	1334;130|42	Hom;C>T	3927;2|88
N	N	-	4	70276504	70276504	G	C	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs62307183	0.211462	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=115736),UGT2B4(dist=69379)	UGT2B28(dist=115736),UGT2B4(dist=69379)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;G>C	603;32|26	Hom;G>C	2063;0|71
N	N	-	4	70276664	70276664	C	T	snp	ncRNA_exonic	 	 	 	 	UGT2B24P																		rs62307184	0.210663	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UGT2B28(dist=115896),UGT2B4(dist=69219)	UGT2B28(dist=115896),UGT2B4(dist=69219)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;C>T	2380;121|118	Hom;C>T	6811;0|258
N	N	-	4	70276910	70276910	G	T	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs62306686	0.213059	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=116142),UGT2B4(dist=68973)	UGT2B28(dist=116142),UGT2B4(dist=68973)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;G>T	56;4|3	Hom;G>T	200;0|7
N	N	-	4	70278183	70278183	T	C	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs138693113	0.0477236	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=117415),UGT2B4(dist=67700)	UGT2B28(dist=117415),UGT2B4(dist=67700)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;T>C	137;3|8	Hom;T>C	228;1|11
N	N	-	4	70283615	70283615	G	A	snp	ncRNA_intronic	 	 	 	 	UGT2B24P																		rs11249544	0.207069	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B28(dist=122847),UGT2B4(dist=62268)	UGT2B28(dist=122847),UGT2B4(dist=62268)	ENSG00000249956	Na	Na	Na	Na	Na	Na	Het;G>A	221;5|8	Hom;G>A	391;0|11
N	N	-	4	70391246	70391246	A	C	snp	intronic	 	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs10011713	0.322883	0	0	1	0	0	intronic	intronic	intronic	UGT2B4	UGT2B4	ENSG00000156096	Na	Na	Na	Na	Na	Na	Het;A>C	150;4|5	Hom;A>C	138;0|4
N	N	-	4	70391344	70391344	G	T	snp	intronic	 	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs10021990	0.323083	0	0	1	0	0	intronic	intronic	intronic	UGT2B4	UGT2B4	ENSG00000156096	Na	Na	Na	Na	Na	Na	Het;G>T	486;41|25	Hom;G>T	1359;0|48
N	N	-	4	70391429	70391429	G	A	snp	nonsynonymous SNV	C19T	H7Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs11732968	0.323083	0	0.3428	1	0	0	exonic	exonic	exonic	UGT2B4	UGT2B4	ENSG00000156096	nonsynonymous SNV	nonsynonymous SNV	unknown	UGT2B4:NM_001297616:exon1:c.C19T:p.H7Y,	UGT2B4:uc011cap.2:exon1:c.C19T:p.H7Y,	UNKNOWN	Het;G>A	1866;86|53	Hom;G>A	4424;0|104
N	N	-	4	70391454	70391454	G	A	snp	UTR5	-7C>T	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs11732996	0.323083	0	0.3399	1	0	0	UTR5	UTR5	UTR5	UGT2B4(NM_001297616:c.-7C>T)	UGT2B4(uc011cap.2:c.-7C>T)	ENSG00000156096(ENST00000381096:c.-7C>T,ENST00000510114:c.-29875C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1862;77|51	Hom;G>A	4435;0|99
N	N	-	4	70391536	70391536	C	T	snp	UTR5	-89G>A	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs66653481	0.323283	0	0	1	0	0	UTR5	UTR5	UTR5	UGT2B4(NM_001297616:c.-89G>A)	UGT2B4(uc011cap.2:c.-89G>A)	ENSG00000156096(ENST00000381096:c.-89G>A,ENST00000510114:c.-29957G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	411;21|14	Hom;C>T	1095;0|28
N	N	-	4	70391561	70391561	G	A	snp	UTR5	-114C>T	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs68096061	0.323283	0	0	1	0	0	UTR5	UTR5	UTR5	UGT2B4(NM_001297616:c.-114C>T)	UGT2B4(uc011cap.2:c.-114C>T)	ENSG00000156096(ENST00000381096:c.-114C>T,ENST00000510114:c.-29982C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	191;10|6	Hom;G>A	762;0|17
N	N	-	4	70391616	70391616	C	T	snp	UTR5	-169G>A	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs60794737	0.323083	0	0	1	0	0	UTR5	UTR5	UTR5	UGT2B4(NM_001297616:c.-169G>A)	UGT2B4(uc011cap.2:c.-169G>A)	ENSG00000156096(ENST00000381096:c.-169G>A,ENST00000510114:c.-30037G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	55;3|3	Hom;C>T	110;0|4
N	N	-	4	70423236	70423236	T	C	snp	intergenic	 	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs28445797	0.321486	0	0	1	0	0	intergenic	intergenic	intergenic	UGT2B4(dist=31504),UGT2A1(dist=30899)	UGT2B4(dist=31504),UGT2A2(dist=30899)	ENSG00000156096(dist=31504),ENSG00000251177(dist=14873)	Na	Na	Na	Na	Na	Na	Het;T>C	265;13|12	Hom;T>C	542;0|22
N	N	-	4	70423325	70423325	G	T	snp	intergenic	 	 	 	 	UGT2B4		ENSG00000156096	UDP glucuronosyltransferase family 2 member B4	chr4:70345883-70391732		Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes 		Glucuronidation	GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4	https://www.uniprot.org/uniprot/P06133		https://www.ncbi.nlm.nih.gov/omim/?term=600067	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4	rs10028160	0.321286	0	0	1	0	0	intergenic	intergenic	intergenic	UGT2B4(dist=31593),UGT2A1(dist=30810)	UGT2B4(dist=31593),UGT2A2(dist=30810)	ENSG00000156096(dist=31593),ENSG00000251177(dist=14784)	Na	Na	Na	Na	Na	Na	Het;G>T	351;7|18	Hom;G>T	351;0|13
N	N	-	4	70448535	70448535	G	T	snp	ncRNA_intronic	 	 	 	 	AC093829.1																		rs11939113	0.208466	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B4(dist=56803),UGT2A1(dist=5600)	UGT2B4(dist=56803),UGT2A2(dist=5600)	ENSG00000251177	Na	Na	Na	Na	Na	Na	Het;G>T	506;15|24	Hom;G>T	927;0|35
N	N	-	4	70448870	70448870	A	T	snp	ncRNA_intronic	 	 	 	 	AC093829.1																		rs6843815	0.771166	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B4(dist=57138),UGT2A1(dist=5265)	UGT2B4(dist=57138),UGT2A2(dist=5265)	ENSG00000251177	Na	Na	Na	Na	Na	Na	Het;A>T	218;18|11	Hom;A>T	702;0|26
N	N	-	4	70448946	70448946	G	GTT	indel	ncRNA_intronic	 	 	 	 	AC093829.1																		rs140988679	0.0922524	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B4(dist=57214),UGT2A1(dist=5189)	UGT2B4(dist=57214),UGT2A2(dist=5189)	ENSG00000251177	Na	Na	Na	Na	Na	Na	Het;+TT	257;20|11	Hom;+TT	595;0|19
N	N	-	4	70449052	70449052	G	C	snp	ncRNA_intronic	 	 	 	 	AC093829.1																		rs2053304	0.224042	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B4(dist=57320),UGT2A1(dist=5083)	UGT2B4(dist=57320),UGT2A2(dist=5083)	ENSG00000251177	Na	Na	Na	Na	Na	Na	Het;G>C	1070;79|53	Hom;G>C	3346;2|130
N	N	-	4	70449614	70449614	T	A	snp	ncRNA_intronic	 	 	 	 	AC093829.1																		rs7692415	0.223842	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B4(dist=57882),UGT2A1(dist=4521)	UGT2B4(dist=57882),UGT2A2(dist=4521)	ENSG00000251177	Na	Na	Na	Na	Na	Na	Het;T>A	310;7|11	Hom;T>A	522;0|15
N	N	-	4	70450046	70450046	C	T	snp	ncRNA_intronic	 	 	 	 	AC093829.1																		rs13118151	0.229233	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	UGT2B4(dist=58314),UGT2A1(dist=4089)	UGT2B4(dist=58314),UGT2A2(dist=4089)	ENSG00000251177	Na	Na	Na	Na	Na	Na	Het;C>T	175;3|7	Hom;C>T	192;0|6
N	N	-	4	70455478	70455478	G	T	snp	intronic	 	 	 	 	UGT2A1	Ugt2a1	ENSG00000173610	UDP glucuronosyltransferase family 2 member A1 complex locus	chr4:70454912-70518967	The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]	drug-related genes ; Hearing Loss; Chronic renal failure|Kidney Failure, Chronic	 	Glucuronidation	GO:0007608;sensory perception of smell;IEA|GO:0008152;metabolic process;TAS|GO:0009593;detection of chemical stimulus;TAS|GO:0050896;response to stimulus;IEA|GO:0052695;cellular glucuronidation;IDA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0015020;glucuronosyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UGT2A1			https://www.ncbi.nlm.nih.gov/omim/?term=604716	http://www.informatics.jax.org/searchtool/Search.do?query=UGT2A1&submit=Quick%0D%13393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2A1	rs2288741	0.770966	0	0	1	0	0	intronic	intronic	intronic	UGT2A1,UGT2A2	UGT2A1,UGT2A2	ENSG00000173610,ENSG00000270386,ENSG00000271271	Na	Na	Na	Na	Na	Na	Het;G>T	180;7|7	Hom;G>T	287;0|9
N	N	-	4	7064218	7064219	TA	T	indel	intronic	 	 	 	 	GRPEL1	Grpel1	ENSG00000109519	GrpE like 1, mitochondrial	chr4:7060633-7069924		Heart Rate; Acquired Immunodeficiency Syndrome|Disease Progression; Body Fat Distribution; Body Height; Lipoproteins	 	Mitochondrial protein import	GO:0006457;protein folding;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0050790;regulation of catalytic activity;IEA	GO:0001405;presequence translocase-associated import motor;IBA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IDA	GO:0000774;adenyl-nucleotide exchange factor activity;IBA|GO:0042803;protein homodimerization activity;IEA|GO:0051082;unfolded protein binding;IDA|GO:0051087;chaperone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRPEL1	https://www.uniprot.org/uniprot/Q9HAV7		https://www.ncbi.nlm.nih.gov/omim/?term=606173	http://www.informatics.jax.org/searchtool/Search.do?query=GRPEL1&submit=Quick%0D%3857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRPEL1	rs60881938	0	0.2349	0.5838	1	0	0	intronic	intronic	intronic	GRPEL1	GRPEL1	ENSG00000109519	Na	Na	Na	Na	Na	Na	Het;-A	147;2|9	Hom;-A	1045;0|21
N	N	-	4	7064220	7064225	TATATA	T	indel	intronic	 	 	 	 	GRPEL1	Grpel1	ENSG00000109519	GrpE like 1, mitochondrial	chr4:7060633-7069924		Heart Rate; Acquired Immunodeficiency Syndrome|Disease Progression; Body Fat Distribution; Body Height; Lipoproteins	 	Mitochondrial protein import	GO:0006457;protein folding;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0050790;regulation of catalytic activity;IEA	GO:0001405;presequence translocase-associated import motor;IBA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IDA	GO:0000774;adenyl-nucleotide exchange factor activity;IBA|GO:0042803;protein homodimerization activity;IEA|GO:0051082;unfolded protein binding;IDA|GO:0051087;chaperone binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRPEL1	https://www.uniprot.org/uniprot/Q9HAV7		https://www.ncbi.nlm.nih.gov/omim/?term=606173	http://www.informatics.jax.org/searchtool/Search.do?query=GRPEL1&submit=Quick%0D%3857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRPEL1	rs376145748	0.00439297	0.0953	0.5369	1	0	0	intronic	intronic	intronic	GRPEL1	GRPEL1	ENSG00000109519	Na	Na	Na	Na	Na	Na	Het;-ATATA	168;2|9	Hom;-ATATA	908;0|21
N	N	-	4	71067317	71067317	C	A	snp	intronic	 	 	 	 	ODAM	Odam	ENSG00000109205	odontogenic, ameloblast asssociated	chr4:71062213-71070293		Blood Pressure Determination	 	Amyloid fiber formation	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006954;inflammatory response;IDA|GO:0009611;response to wounding;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0031214;biomineral tissue development;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0060054;positive regulation of epithelial cell proliferation involved in wound healing;IEP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0071944;cell periphery;IDA|GO:0099512;supramolecular fiber;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ODAM	https://www.uniprot.org/uniprot/A1E959		https://www.ncbi.nlm.nih.gov/omim/?term=614843	http://www.informatics.jax.org/searchtool/Search.do?query=ODAM&submit=Quick%0D%3832ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ODAM	rs4694273	0.672125	0	0	1	0	0	intronic	intronic	intronic	ODAM	ODAM	ENSG00000109205	Na	Na	Na	Na	Na	Na	Het;C>A	125;2|6	Hom;C>A	241;0|8
N	N	-	4	71339723	71339723	G	A	snp	splicing	 	 	 	 	MUC7		ENSG00000171195	mucin 7, secreted	chr4:71296209-71348714	This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]	Asthma; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Meningeal Neoplasms|meningioma; lung function; Body Height; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Alcoholism; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; respiratory syncytial virus bronchiolitis		Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC7			https://www.ncbi.nlm.nih.gov/omim/?term=158375	http://www.informatics.jax.org/searchtool/Search.do?query=MUC7&submit=Quick%0D%12872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC7	rs2306949	0.208666	0.1961	0.1689	1	0	0	splicing	splicing	splicing	MUC7	MUC7	ENSG00000171195	Na	Na	Na	Na	Na	Na	Het;G>A	1200;42|32	Hom;G>A	1956;0|44
N	N	-	4	71339728	71339728	C	T	snp	UTR5	-11C>T	 	 	 	MUC7		ENSG00000171195	mucin 7, secreted	chr4:71296209-71348714	This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]	Asthma; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Meningeal Neoplasms|meningioma; lung function; Body Height; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Alcoholism; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; respiratory syncytial virus bronchiolitis		Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC7			https://www.ncbi.nlm.nih.gov/omim/?term=158375	http://www.informatics.jax.org/searchtool/Search.do?query=MUC7&submit=Quick%0D%12872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC7	rs2306948	0.208666	0.1963	0.1690	1	0	0	UTR5	UTR5	UTR5	MUC7(NM_001145006:c.-11C>T,NM_001145007:c.-11C>T,NM_152291:c.-11C>T)	MUC7(uc011cat.2:c.-11C>T,uc011cau.2:c.-11C>T,uc003hfj.3:c.-11C>T)	ENSG00000171195(ENST00000413702:c.-11C>T,ENST00000456088:c.-11C>T,ENST00000505411:c.-11C>T,ENST00000304887:c.-11C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1197;43|33	Hom;C>T	1932;0|44
N	N	-	4	71339846	71339846	G	A	snp	intronic	 	 	 	 	MUC7		ENSG00000171195	mucin 7, secreted	chr4:71296209-71348714	This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]	Asthma; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Meningeal Neoplasms|meningioma; lung function; Body Height; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Alcoholism; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; respiratory syncytial virus bronchiolitis		Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC7			https://www.ncbi.nlm.nih.gov/omim/?term=158375	http://www.informatics.jax.org/searchtool/Search.do?query=MUC7&submit=Quick%0D%12872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC7	rs2306947	0.182907	0.1721	0	1	0	0	intronic	intronic	intronic	MUC7	MUC7	ENSG00000171195	Na	Na	Na	Na	Na	Na	Het;G>A	138;14|8	Hom;G>A	421;0|16
N	N	-	4	71346701	71346701	C	G	snp	nonsynonymous SNV	C240G	N80K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	MUC7		ENSG00000171195	mucin 7, secreted	chr4:71296209-71348714	This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]	Asthma; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Meningeal Neoplasms|meningioma; lung function; Body Height; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Alcoholism; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; respiratory syncytial virus bronchiolitis		Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC7			https://www.ncbi.nlm.nih.gov/omim/?term=158375	http://www.informatics.jax.org/searchtool/Search.do?query=MUC7&submit=Quick%0D%12872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC7	rs6826961	0.310304	0.2577	0.2726	0.08	1	12	exonic	exonic	exonic	MUC7	MUC7	ENSG00000171195	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC7:NM_152291:exon3:c.C240G:p.N80K,MUC7:NM_001145006:exon4:c.C240G:p.N80K,MUC7:NM_001145007:exon4:c.C240G:p.N80K,	MUC7:uc011cau.2:exon4:c.C240G:p.N80K,MUC7:uc011cat.2:exon4:c.C240G:p.N80K,MUC7:uc003hfj.3:exon3:c.C240G:p.N80K,	UNKNOWN	Het;C>G	1882;112|90	Hom;C>G	4322;0|153
N	N	-	4	71389497	71389497	C	G	snp	intronic	 	 	 	 	AMTN	Amtn	ENSG00000187689	amelotin	chr4:71384257-71398459	The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]		Mice homozygous for a knock-out allele exhibit enamel hypomineralization.	Post-translational protein phosphorylation	GO:0007155;cell adhesion;IEA|GO:0031214;biomineral tissue development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0070169;positive regulation of biomineral tissue development;IDA|GO:0070175;positive regulation of enamel mineralization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;ISS|GO:0005605;basal lamina;ISS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005911;cell-cell junction;ISS	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AMTN		https://hpo.jax.org/app/browse/search?q=AMTN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610912	http://www.informatics.jax.org/searchtool/Search.do?query=AMTN&submit=Quick%0D%15872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMTN	rs3912756	0.258786	0	0	1	0	0	intronic	intronic	intronic	AMTN	AMTN	ENSG00000187689	Na	Na	Na	Na	Na	Na	Het;C>G	68;7|3	Hom;C>G	199;0|7
N	N	-	4	71389669	71389669	T	C	snp	intronic	 	 	 	 	AMTN	Amtn	ENSG00000187689	amelotin	chr4:71384257-71398459	The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]		Mice homozygous for a knock-out allele exhibit enamel hypomineralization.	Post-translational protein phosphorylation	GO:0007155;cell adhesion;IEA|GO:0031214;biomineral tissue development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0070169;positive regulation of biomineral tissue development;IDA|GO:0070175;positive regulation of enamel mineralization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;ISS|GO:0005605;basal lamina;ISS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005911;cell-cell junction;ISS	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AMTN		https://hpo.jax.org/app/browse/search?q=AMTN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610912	http://www.informatics.jax.org/searchtool/Search.do?query=AMTN&submit=Quick%0D%15872ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AMTN	rs3912755	0.258786	0.2433	0.1912	1	0	0	intronic	intronic	intronic	AMTN	AMTN	ENSG00000187689	Na	Na	Na	Na	Na	Na	Het;T>C	308;25|15	Hom;T>C	1090;0|42
N	N	-	4	71768079	71768079	C	G	snp	UTR5	-175C>G	 	 	 	MOB1B	Mob1b	ENSG00000173542	MOB kinase activator 1B	chr4:71768043-71888166	The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]		Mice homozygous for a gene trap allele exhibit no abnormal phenotype.	Signaling by Hippo	GO:0031952;regulation of protein autophosphorylation;IDA|GO:0035329;hippo signaling;TAS|GO:0042327;positive regulation of phosphorylation;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0019209;kinase activator activity;IDA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOB1B			https://www.ncbi.nlm.nih.gov/omim/?term=609282	http://www.informatics.jax.org/searchtool/Search.do?query=MOB1B&submit=Quick%0D%13377ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOB1B	rs1871048	0.928714	0	0	1	0	0	UTR5	UTR5	UTR5	MOB1B(NM_001244767:c.-175C>G,NM_173468:c.-175C>G,NM_001244766:c.-48421C>G)	MOB1B(uc003hfv.2:c.-175C>G,uc011cba.2:c.-48421C>G,uc003hfw.3:c.-175C>G)	ENSG00000173542(ENST00000502869:c.-48421C>G,ENST00000309395:c.-175C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	88;3|4	Hom;C>G	148;0|6
N	N	-	4	71864013	71864013	A	G	snp	intronic	 	 	 	 	DCK	Dck	ENSG00000156136	deoxycytidine kinase	chr4:71858255-71896631	 Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs.  Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents.  Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives.  DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]	pancreatic neoplasm; pancreatic cancer; breast cancer neutropenia; Respiratory Function Tests; Mucositis|Neoplasm, Residual|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombocytopenia; null; Chronic renal failure|Kidney Failure, Chronic; Neoplasms; leukemia	Mice homozygous for disruptions in this gene have profound defects in lymphopoiesis. Thymic T cell number and overall lymphocyte number are greatly reduced.	Purine salvage	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006220;pyrimidine nucleotide metabolic process;TAS|GO:0009157;deoxyribonucleoside monophosphate biosynthetic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0043101;purine-containing compound salvage;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004137;deoxycytidine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DCK	https://www.uniprot.org/uniprot/P27707		https://www.ncbi.nlm.nih.gov/omim/?term=125450	http://www.informatics.jax.org/searchtool/Search.do?query=DCK&submit=Quick%0D%9944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCK	rs6446988	0.78734	0	0	1	0	0	intronic	intronic	intronic	DCK	DCK	ENSG00000156136	Na	Na	Na	Na	Na	Na	Het;A>G	61;21|5	Hom;A>G	805;0|28
N	N	-	4	71892513	71892513	A	T	snp	intronic	 	 	 	 	DCK	Dck	ENSG00000156136	deoxycytidine kinase	chr4:71858255-71896631	 Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs.  Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents.  Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives.  DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]	pancreatic neoplasm; pancreatic cancer; breast cancer neutropenia; Respiratory Function Tests; Mucositis|Neoplasm, Residual|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombocytopenia; null; Chronic renal failure|Kidney Failure, Chronic; Neoplasms; leukemia	Mice homozygous for disruptions in this gene have profound defects in lymphopoiesis. Thymic T cell number and overall lymphocyte number are greatly reduced.	Purine salvage	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006220;pyrimidine nucleotide metabolic process;TAS|GO:0009157;deoxyribonucleoside monophosphate biosynthetic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0043101;purine-containing compound salvage;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004137;deoxycytidine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DCK	https://www.uniprot.org/uniprot/P27707		https://www.ncbi.nlm.nih.gov/omim/?term=125450	http://www.informatics.jax.org/searchtool/Search.do?query=DCK&submit=Quick%0D%9944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCK	rs1486271	0.786941	0.7931	0.9195	1	0	0	intronic	intronic	intronic	DCK	DCK	ENSG00000156136	Na	Na	Na	Na	Na	Na	Het;A>T	251;15|14	Hom;A>T	677;0|26
N	N	-	4	71895260	71895260	C	T	snp	UTR3	*165C>T	 	 	 	DCK	Dck	ENSG00000156136	deoxycytidine kinase	chr4:71858255-71896631	 Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs.  Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents.  Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives.  DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]	pancreatic neoplasm; pancreatic cancer; breast cancer neutropenia; Respiratory Function Tests; Mucositis|Neoplasm, Residual|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombocytopenia; null; Chronic renal failure|Kidney Failure, Chronic; Neoplasms; leukemia	Mice homozygous for disruptions in this gene have profound defects in lymphopoiesis. Thymic T cell number and overall lymphocyte number are greatly reduced.	Purine salvage	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006220;pyrimidine nucleotide metabolic process;TAS|GO:0009157;deoxyribonucleoside monophosphate biosynthetic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0043101;purine-containing compound salvage;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004137;deoxycytidine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DCK	https://www.uniprot.org/uniprot/P27707		https://www.ncbi.nlm.nih.gov/omim/?term=125450	http://www.informatics.jax.org/searchtool/Search.do?query=DCK&submit=Quick%0D%9944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCK	rs4643786	0.786142	0	0	1	0	0	UTR3	UTR3	UTR3	DCK(NM_000788:c.*165C>T)	DCK(uc003hfx.3:c.*165C>T,uc011cbb.2:c.*165C>T)	ENSG00000156136(ENST00000286648:c.*165C>T,ENST00000503359:c.*892C>T,ENST00000504952:c.*91C>T,ENST00000504730:c.*232C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	100;11|5	Hom;C>T	376;0|13
N	N	-	4	7461625	7461625	G	A	snp	intronic	 	 	 	 	SORCS2	Sorcs2	ENSG00000184985	sortilin related VPS10 domain containing receptor 2	chr4:7194265-7744554	This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils	Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury.		GO:0007218;neuropeptide signaling pathway;NAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS2			https://www.ncbi.nlm.nih.gov/omim/?term=606284	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2	rs12500783	0.256989	0	0	1	0	0	intronic	intronic	intronic	SORCS2	SORCS2	ENSG00000184985	Na	Na	Na	Na	Na	Na	Het;G>A	277;4|8	Hom;G>A	242;0|6
N	N	-	4	7461826	7461826	C	CCCA	indel	ncRNA_exonic	 	 	 	 	MIR4274																		rs10655902	0	0	0.8995	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4274	MIR4274	ENSG00000266690	Na	Na	Na	Na	Na	Na	Het;+CCA	1765;36|46	Hom;+CCA	2423;0|55
N	N	-	4	759733	759733	T	C	snp	ncRNA_intronic	 	 	 	 	AC139887.2																		rs6816483	0.669928	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PCGF3	PCGF3	ENSG00000249592	Na	Na	Na	Na	Na	Na	Het;T>C	492;10|21	Hom;T>C	901;0|25
N	N	-	4	7631201	7631201	G	C	snp	intronic	 	 	 	 	SORCS2	Sorcs2	ENSG00000184985	sortilin related VPS10 domain containing receptor 2	chr4:7194265-7744554	This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils	Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury.		GO:0007218;neuropeptide signaling pathway;NAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS2			https://www.ncbi.nlm.nih.gov/omim/?term=606284	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2	rs62277516	0.434105	0	0	1	0	0	intronic	intronic	intronic	SORCS2	SORCS2	ENSG00000184985	Na	Na	Na	Na	Na	Na	Het;G>C	53;2|4	Hom;G>C	71;0|4
N	N	-	4	76678576	76678576	A	G	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs4859552	0.544728	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;A>G	175;2|8	Hom;A>G	458;0|14
N	N	-	4	76695810	76695814	TTCTC	T	indel	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs10588680	0.535543	0.4913	0.5974	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;-TCTC	1098;66|55	Hom;-TCTC	5128;0|115
N	N	-	4	76721414	76721414	C	G	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs13145290	0.561701	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;C>G	384;5|12	Hom;C>G	1111;0|29
N	N	-	4	76721459	76721459	G	A	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs4859409	0.561701	0.5279	0.5908	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;G>A	803;25|38	Hom;G>A	2132;0|77
N	N	-	4	76721705	76721705	C	G	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs2271472	0.561701	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;C>G	156;13|10	Hom;C>G	628;0|20
N	N	-	4	76722041	76722041	G	A	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs324727	0.652556	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;G>A	173;5|8	Hom;G>A	192;0|8
N	N	-	4	76722353	76722353	G	A	snp	synonymous SNV	G1833A	Q611Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs324726	0.652556	0.6305	0.7183	1	0	0	exonic	exonic	exonic	USO1	USO1	ENSG00000138768	unknown	synonymous SNV	unknown	UNKNOWN	USO1:uc003hiu.3:exon16:c.G1833A:p.Q611Q,USO1:uc003hiv.3:exon16:c.G1512A:p.Q504Q,USO1:uc003hiw.3:exon14:c.G1491A:p.Q497Q,	UNKNOWN	Het;G>A	411;42|23	Hom;G>A	1781;0|65
N	N	-	4	76722422	76722422	T	C	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs13133472	0.544329	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;T>C	200;19|10	Hom;T>C	1223;0|45
N	N	-	4	76726528	76726528	T	C	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs11733253	0.561102	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;T>C	532;16|15	Hom;T>C	977;0|27
N	N	-	4	76726539	76726539	C	T	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs11728073	0.561701	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;C>T	538;14|15	Hom;C>T	926;0|21
N	N	-	4	76727576	76727577	GT	G	indel	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs11312984	0.561901	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;-T	253;12|14	Hom;-T	458;0|19
N	N	-	4	76730061	76730061	T	A	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs324688	0.652556	0.6306	0.7189	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;T>A	214;6|8	Hom;T>A	564;0|19
N	N	-	4	76730258	76730258	T	C	snp	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs324690	0.652556	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;T>C	415;16|18	Hom;T>C	1196;0|43
N	N	-	4	76730309	76730330	CTTTAGATTACTTACTAGCCGG	C	indel	intronic	 	 	 	 	USO1	Uso1	ENSG00000138768	USO1 vesicle transport factor	chr4:76649777-76735382	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Osteoporosis; Carotid Artery Diseases; Atrial Fibrillation	Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells.	COPI-mediated anterograde transport	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0045056;transcytosis;IBA|GO:0048208;COPII vesicle coating;TAS|GO:0048211;Golgi vesicle docking;IBA|GO:0048280;vesicle fusion with Golgi apparatus;IEA|GO:0061025;membrane fusion;IBA	GO:0000139;Golgi membrane;TAS|GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IBA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0030133;transport vesicle;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IBA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USO1	https://www.uniprot.org/uniprot/O60763		https://www.ncbi.nlm.nih.gov/omim/?term=603344	http://www.informatics.jax.org/searchtool/Search.do?query=USO1&submit=Quick%0D%7796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USO1	rs11272122	0.652556	0	0	1	0	0	intronic	intronic	intronic	USO1	USO1	ENSG00000138768	Na	Na	Na	Na	Na	Na	Het;-TTTAGATTACTTACTAGCCGG	119;4|4	Hom;-TTTAGATTACTTACTAGCCGG	323;0|8
N	N	-	4	76861859	76861859	C	T	snp	intronic	 	 	 	 	NAAA	Naaa	ENSG00000138744	N-acylethanolamine acid amidase	chr4:76831809-76862204	This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	anorexia nervosa	 	Neurotransmitter release cycle	GO:0006629;lipid metabolic process;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0008150;biological_process;ND	GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0098793;presynapse;IEA	GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NAAA	https://www.uniprot.org/uniprot/Q02083		https://www.ncbi.nlm.nih.gov/omim/?term=607469	http://www.informatics.jax.org/searchtool/Search.do?query=NAAA&submit=Quick%0D%7786ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAAA	rs2292533	0.279752	0.3320	0.3696	1	0	0	intronic	intronic	intronic	NAAA	NAAA	ENSG00000138744	Na	Na	Na	Na	Na	Na	Het;C>T	265;12|14	Hom;C>T	422;2|18
N	N	-	4	77177817	77177817	A	G	snp	intronic	 	 	 	 	FAM47E	Fam47e	ENSG00000189157	family with sequence similarity 47 member E	chr4:77135193-77204933		Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005737;cytoplasm;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/FAM47E				http://www.informatics.jax.org/searchtool/Search.do?query=FAM47E&submit=Quick%0D%16193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM47E	rs2289514	0.516174	0	0	1	0	0	intronic	intronic	intronic	FAM47E,FAM47E-STBD1	FAM47E,FAM47E-STBD1	ENSG00000118804,ENSG00000189157,ENSG00000272414	Na	Na	Na	Na	Na	Na	Het;A>G	33;4|2	Hom;A>G	137;0|4
N	N	-	4	77201487	77201487	C	T	snp	nonsynonymous SNV	C803T	T268M	polar,hydrophilic,neutral	hydrophobic,neutral	FAM47E	Fam47e	ENSG00000189157	family with sequence similarity 47 member E	chr4:77135193-77204933		Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005737;cytoplasm;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/FAM47E				http://www.informatics.jax.org/searchtool/Search.do?query=FAM47E&submit=Quick%0D%16193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM47E	rs1036788	0.655152	0.7830	0.7284	0.15	2	13	exonic	exonic	exonic	FAM47E	FAM47E	ENSG00000189157	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM47E:NM_001242936:exon7:c.C803T:p.T268M,FAM47E:NM_001136570:exon7:c.C1097T:p.T366M,	FAM47E:uc003hjx.3:exon7:c.C1097T:p.T366M,FAM47E:uc003hjv.3:exon7:c.C803T:p.T268M,	UNKNOWN	Het;C>T	675;34|34	Hom;C>T	2082;0|79
N	N	-	4	77916865	77916865	G	A	snp	intronic	 	 	 	 	SEPT11	Sept11	ENSG00000138758	septin 11	chr4:77870856-77961537	SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]	smoking cessation	 		GO:0007049;cell cycle;IEA|GO:0051291;protein heterooligomerization;IDA|GO:0051301;cell division;IEA	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEPT11	https://www.uniprot.org/uniprot/Q9NVA2		https://www.ncbi.nlm.nih.gov/omim/?term=612887	http://www.informatics.jax.org/searchtool/Search.do?query=SEPT11&submit=Quick%0D%7791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEPT11	rs6532758	0.479633	0	0	1	0	0	intronic	intronic	intronic	SEPT11	SEPT11	ENSG00000138758	Na	Na	Na	Na	Na	Na	Het;G>A	121;7|5	Hom;G>A	234;0|7
N	N	-	4	77917194	77917194	A	G	snp	intronic	 	 	 	 	SEPT11	Sept11	ENSG00000138758	septin 11	chr4:77870856-77961537	SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]	smoking cessation	 		GO:0007049;cell cycle;IEA|GO:0051291;protein heterooligomerization;IDA|GO:0051301;cell division;IEA	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEPT11	https://www.uniprot.org/uniprot/Q9NVA2		https://www.ncbi.nlm.nih.gov/omim/?term=612887	http://www.informatics.jax.org/searchtool/Search.do?query=SEPT11&submit=Quick%0D%7791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEPT11	rs7356354	0.479633	0	0	1	0	0	intronic	intronic	intronic	SEPT11	SEPT11	ENSG00000138758	Na	Na	Na	Na	Na	Na	Het;A>G	554;21|23	Hom;A>G	1249;0|37
N	N	-	4	77917458	77917458	A	G	snp	intronic	 	 	 	 	SEPT11	Sept11	ENSG00000138758	septin 11	chr4:77870856-77961537	SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]	smoking cessation	 		GO:0007049;cell cycle;IEA|GO:0051291;protein heterooligomerization;IDA|GO:0051301;cell division;IEA	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEPT11	https://www.uniprot.org/uniprot/Q9NVA2		https://www.ncbi.nlm.nih.gov/omim/?term=612887	http://www.informatics.jax.org/searchtool/Search.do?query=SEPT11&submit=Quick%0D%7791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEPT11	rs7685131	0.480032	0	0	1	0	0	intronic	intronic	intronic	SEPT11	SEPT11	ENSG00000138758	Na	Na	Na	Na	Na	Na	Het;A>G	192;1|7	Hom;A>G	417;0|12
N	N	-	4	78285881	78285881	A	G	snp	intergenic	 	 	 	 	AC008638.1																		rs28827478	0.460663	0	0	1	0	0	intergenic	intergenic	intergenic	CCNG2(dist=194668),CXCL13(dist=147026)	CCNG2(dist=194668),CXCL13(dist=147026)	ENSG00000248831(dist=13493),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>G	79;1|3	Hom;A>G	174;0|5
N	N	-	4	78697552	78697552	T	TA	indel	intronic	 	 	 	 	CNOT6L	Cnot6l	ENSG00000138767	CCR4-NOT transcription complex subunit 6 like	chr4:78634541-78740769		Cholesterol; Tobacco Use Disorder; Cholesterol, LDL; Asthma	Mice homozygous for a knock-out allele exhibit protection from diet-induced obesity and metabolic disruptions.	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain	GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IEA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0031047;gene silencing by RNA;IEA|GO:0061157;mRNA destabilization;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030014;CCR4-NOT complex;IDA	GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004535;poly(A)-specific ribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNOT6L	https://www.uniprot.org/uniprot/Q96LI5			http://www.informatics.jax.org/searchtool/Search.do?query=CNOT6L&submit=Quick%0D%7795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT6L	rs34417165	0.802915	0.8178	0.7142	1	0	0	intronic	intronic	intronic	CNOT6L	CNOT6L	ENSG00000138767	Na	Na	Na	Na	Na	Na	Het;+A	1187;10|56	Hom;+A	1255;7|57
N	N	-	4	78923851	78923851	A	C	snp	upstream	 	 	 	 	AC114801.1																		rs6533382	0.755192	0	0	1	0	0	intergenic	intergenic	upstream	MRPL1(dist=49907),FRAS1(dist=54873)	MRPL1(dist=49907),FRAS1(dist=54873)	ENSG00000248128	Na	Na	Na	Na	Na	Na	Het;A>C	50;3|4	Hom;A>C	346;0|13
N	N	-	4	79442799	79442800	GT	G	indel	intronic	 	 	 	 	FRAS1	Fras1	ENSG00000138759	Fraser extracellular matrix complex subunit 1	chr4:78978724-79465423	This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Cleft Lip|Cleft Palate; Hair; Hematocrit; Hemoglobins; hair morphology; Forced Vital Capacity	Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters.  Survival is variable on genetic backgrounds.  Kidney development is severely affected and syndactyly is common.		GO:0002009;morphogenesis of an epithelium;IEA|GO:0003338;metanephros morphogenesis;IEA|GO:0007154;cell communication;IEA|GO:0015031;protein transport;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0043588;skin development;IEA|GO:0060021;palate development;IEA	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0061618;sublamina densa;ISS	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FRAS1	https://www.uniprot.org/uniprot/Q86XX4	https://hpo.jax.org/app/browse/search?q=FRAS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607830	http://www.informatics.jax.org/searchtool/Search.do?query=FRAS1&submit=Quick%0D%7792ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAS1	rs11360692	0.507788	0	0.5110	1	0	0	intronic	intronic	intronic	FRAS1	FRAS1	ENSG00000138759	Na	Na	Na	Na	Na	Na	Het;-T	980;6|47	Hom;-T	1131;2|49
N	N	-	4	8062690	8062690	G	A	snp	intronic	 	 	 	 	ABLIM2	Ablim2	ENSG00000163995	actin binding LIM protein family member 2	chr4:7967039-8160559		Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils	 	DCC mediated attractive signaling	GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2			https://www.ncbi.nlm.nih.gov/omim/?term=612544	http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2	rs10938683	0.704673	0.5782	0.6953	1	0	0	intronic	intronic	intronic	ABLIM2	ABLIM2	ENSG00000163995	Na	Na	Na	Na	Na	Na	Het;G>A	874;38|45	Hom;G>A	3381;0|76
N	N	-	4	8062871	8062871	A	C	snp	intronic	 	 	 	 	ABLIM2	Ablim2	ENSG00000163995	actin binding LIM protein family member 2	chr4:7967039-8160559		Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils	 	DCC mediated attractive signaling	GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2			https://www.ncbi.nlm.nih.gov/omim/?term=612544	http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2	rs6853901	0.831669	0	0	1	0	0	intronic	intronic	intronic	ABLIM2	ABLIM2	ENSG00000163995	Na	Na	Na	Na	Na	Na	Het;A>C	134;4|6	Hom;A>C	199;0|7
N	N	-	4	80782552	80782552	G	A	snp	ncRNA_exonic	 	 	 	 	PCAT4																		rs1132460	0.63099	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PCAT4	PCAT4	ENSG00000251321	Na	Na	Na	Na	Na	Na	Het;G>A	854;82|48	Hom;G>A	3331;0|125
N	N	-	4	80782705	80782705	T	C	snp	ncRNA_exonic	 	 	 	 	PCAT4																		rs1132461	0.612021	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PCAT4	PCAT4	ENSG00000251321	Na	Na	Na	Na	Na	Na	Het;T>C	1082;62|47	Hom;T>C	4072;2|141
N	N	-	4	81884722	81884722	G	A	snp	nonsynonymous SNV	G658A	V220I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C4orf22	1700007G11Rik	ENSG00000197826	chromosome 4 open reading frame 22	chr4:81256874-81884910		Blood Pressure; Lipoproteins; Hematocrit; Tobacco Use Disorder; Diastolic blood pressure; Socioeconomic Factors	 					http://www.genecards.org/index.php?path=/Search/keyword/C4orf22				http://www.informatics.jax.org/searchtool/Search.do?query=C4orf22&submit=Quick%0D%16727ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf22	rs1052325	0.810503	0.7771	0.8365	0.08	1	13	exonic	exonic	exonic	C4orf22	C4orf22	ENSG00000197826	nonsynonymous SNV	nonsynonymous SNV	unknown	C4orf22:NM_152770:exon6:c.G658A:p.V220I,C4orf22:NM_001206997:exon7:c.G709A:p.V237I,	C4orf22:uc010ijp.3:exon7:c.G709A:p.V237I,C4orf22:uc003hmf.3:exon6:c.G658A:p.V220I,	UNKNOWN	Het;G>A	189;50|17	Hom;G>A	1125;0|44
N	N	-	4	81918690	81918690	A	G	snp	intergenic	 	 	 	 	C4orf22	1700007G11Rik	ENSG00000197826	chromosome 4 open reading frame 22	chr4:81256874-81884910		Blood Pressure; Lipoproteins; Hematocrit; Tobacco Use Disorder; Diastolic blood pressure; Socioeconomic Factors	 					http://www.genecards.org/index.php?path=/Search/keyword/C4orf22				http://www.informatics.jax.org/searchtool/Search.do?query=C4orf22&submit=Quick%0D%16727ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf22	rs2868078	0.66853	0	0	1	0	0	intergenic	intergenic	intergenic	C4orf22(dist=33780),BMP3(dist=33429)	C4orf22(dist=33780),BMP3(dist=33429)	ENSG00000197826(dist=33780),ENSG00000152785(dist=33429)	Na	Na	Na	Na	Na	Na	Het;A>G	808;46|39	Hom;A>G	1819;0|65
N	N	-	4	8288521	8288521	G	A	snp	intronic	 	 	 	 	HTRA3	Htra3	ENSG00000170801	HtrA serine peptidase 3	chr4:8271492-8308838		Cholesterol, LDL; Tobacco Use Disorder	 		GO:0001558;regulation of cell growth;IEA|GO:0006508;proteolysis;IDA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA	GO:0005576;extracellular region;IEA	GO:0004175;endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HTRA3			https://www.ncbi.nlm.nih.gov/omim/?term=608785	http://www.informatics.jax.org/searchtool/Search.do?query=HTRA3&submit=Quick%0D%12778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTRA3	rs7692567	0.403554	0.3479	0.3485	1	0	0	intronic	intronic	intronic	HTRA3	HTRA3	ENSG00000170801	Na	Na	Na	Na	Na	Na	Het;G>A	1078;61|54	Hom;G>A	2651;0|97
N	N	-	4	8294196	8294196	C	T	snp	intronic	 	 	 	 	HTRA3	Htra3	ENSG00000170801	HtrA serine peptidase 3	chr4:8271492-8308838		Cholesterol, LDL; Tobacco Use Disorder	 		GO:0001558;regulation of cell growth;IEA|GO:0006508;proteolysis;IDA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA	GO:0005576;extracellular region;IEA	GO:0004175;endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HTRA3			https://www.ncbi.nlm.nih.gov/omim/?term=608785	http://www.informatics.jax.org/searchtool/Search.do?query=HTRA3&submit=Quick%0D%12778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTRA3	rs13130633	0.275359	0	0	1	0	0	intronic	intronic	intronic	HTRA3	HTRA3	ENSG00000170801	Na	Na	Na	Na	Na	Na	Het;C>T	110;11|6	Hom;C>T	249;0|10
N	N	-	4	8304137	8304137	G	A	snp	intronic	 	 	 	 	HTRA3	Htra3	ENSG00000170801	HtrA serine peptidase 3	chr4:8271492-8308838		Cholesterol, LDL; Tobacco Use Disorder	 		GO:0001558;regulation of cell growth;IEA|GO:0006508;proteolysis;IDA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA	GO:0005576;extracellular region;IEA	GO:0004175;endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HTRA3			https://www.ncbi.nlm.nih.gov/omim/?term=608785	http://www.informatics.jax.org/searchtool/Search.do?query=HTRA3&submit=Quick%0D%12778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTRA3	rs13144236	0.270168	0.2832	0	1	0	0	intronic	intronic	intronic	HTRA3	HTRA3	ENSG00000170801	Na	Na	Na	Na	Na	Na	Het;G>A	150;25|12	Hom;G>A	1322;0|50
N	N	-	4	83498503	83498503	G	A	snp	intergenic	 	 	 	 	AC067942.3																		rs144499957	0.0403355	0	0	1	0	0	intergenic	intergenic	intergenic	TMEM150C(dist=15377),LINC00575(dist=35763)	TMEM150C(dist=14993),LINC00575(dist=35763)	ENSG00000249960(dist=5536),ENSG00000248113(dist=2767)	Na	Na	Na	Na	Na	Na	Het;G>A	259;9|13	Hom;G>A	403;0|17
N	N	-	4	83499717	83499717	A	G	snp	intergenic	 	 	 	 	AC067942.3																		rs9307807	0.658347	0	0	1	0	0	intergenic	intergenic	intergenic	TMEM150C(dist=16591),LINC00575(dist=34549)	TMEM150C(dist=16207),LINC00575(dist=34549)	ENSG00000249960(dist=6750),ENSG00000248113(dist=1553)	Na	Na	Na	Na	Na	Na	Het;A>G	1158;36|52	Hom;A>G	2825;0|105
N	N	-	4	83499749	83499749	A	G	snp	intergenic	 	 	 	 	AC067942.3																		rs150579749	0.0399361	0	0	1	0	0	intergenic	intergenic	intergenic	TMEM150C(dist=16623),LINC00575(dist=34517)	TMEM150C(dist=16239),LINC00575(dist=34517)	ENSG00000249960(dist=6782),ENSG00000248113(dist=1521)	Na	Na	Na	Na	Na	Na	Het;A>G	1095;34|50	Hom;A>G	2609;2|98
N	N	-	4	83582211	83582211	C	G	snp	nonsynonymous SNV	G589C	E197Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	SCD5	 	ENSG00000145284	stearoyl-CoA desaturase 5	chr4:83550692-83720010	Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; Metabolism; Tobacco Use Disorder; Myocardial Infarction	 	Fatty acyl-CoA biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004768;stearoyl-CoA 9-desaturase activity;EXP|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCD5	https://www.uniprot.org/uniprot/Q86SK9		https://www.ncbi.nlm.nih.gov/omim/?term=608370	http://www.informatics.jax.org/searchtool/Search.do?query=SCD5&submit=Quick%0D%8717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD5	rs3733227	0.608427	0.6068	0.6538	0.20	2	10	exonic	exonic	exonic	SCD5	SCD5	ENSG00000145284	nonsynonymous SNV	nonsynonymous SNV	unknown	SCD5:NM_024906:exon4:c.G589C:p.E197Q,	SCD5:uc003hnb.4:exon4:c.G589C:p.E197Q,	UNKNOWN	Het;C>G	544;28|25	Hom;C>G	1782;0|60
N	N	-	4	83602150	83602150	C	T	snp	intronic	 	 	 	 	SCD5	 	ENSG00000145284	stearoyl-CoA desaturase 5	chr4:83550692-83720010	Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; Metabolism; Tobacco Use Disorder; Myocardial Infarction	 	Fatty acyl-CoA biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004768;stearoyl-CoA 9-desaturase activity;EXP|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCD5	https://www.uniprot.org/uniprot/Q86SK9		https://www.ncbi.nlm.nih.gov/omim/?term=608370	http://www.informatics.jax.org/searchtool/Search.do?query=SCD5&submit=Quick%0D%8717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD5	rs2276883	0.559105	0	0	1	0	0	intronic	intronic	intronic	SCD5	SCD5	ENSG00000145284	Na	Na	Na	Na	Na	Na	Het;C>T	41;7|3	Hom;C>T	412;0|17
N	N	-	4	84229897	84229897	T	C	snp	intronic	 	 	 	 	HPSE	Hpse	ENSG00000173083	heparanase	chr4:84213614-84256306	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null	Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization.	Neutrophil degranulation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA	GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE			https://www.ncbi.nlm.nih.gov/omim/?term=604724	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE	rs4453925	0.816693	0	0	1	0	0	intronic	intronic	intronic	HPSE	HPSE	ENSG00000173083	Na	Na	Na	Na	Na	Na	Het;T>C	216;12|10	Hom;T>C	463;0|16
N	N	-	4	84230619	84230619	T	C	snp	nonsynonymous SNV	A920G	K307R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	HPSE	Hpse	ENSG00000173083	heparanase	chr4:84213614-84256306	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null	Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization.	Neutrophil degranulation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA	GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE			https://www.ncbi.nlm.nih.gov/omim/?term=604724	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE	rs11099592	0.813299	0.7986	0.7844	0.23	3	13	exonic	exonic	exonic	HPSE	HPSE	ENSG00000173083	nonsynonymous SNV	nonsynonymous SNV	unknown	HPSE:NM_001166498:exon8:c.A920G:p.K307R,HPSE:NM_006665:exon8:c.A920G:p.K307R,HPSE:NM_001199830:exon6:c.A746G:p.K249R,HPSE:NM_001098540:exon7:c.A920G:p.K307R,	HPSE:uc011ccs.2:exon6:c.A149G:p.K50R,HPSE:uc003hok.4:exon8:c.A920G:p.K307R,HPSE:uc003hoi.3:exon6:c.A746G:p.K249R,HPSE:uc003hoj.4:exon7:c.A920G:p.K307R,HPSE:uc011cct.2:exon8:c.A920G:p.K307R,	UNKNOWN	Het;T>C	1236;64|61	Hom;T>C	2649;0|101
N	N	-	4	84232104	84232104	T	C	snp	intronic	 	 	 	 	HPSE	Hpse	ENSG00000173083	heparanase	chr4:84213614-84256306	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null	Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization.	Neutrophil degranulation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA	GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE			https://www.ncbi.nlm.nih.gov/omim/?term=604724	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE	rs6535455	0.813698	0	0	1	0	0	intronic	intronic	intronic	HPSE	HPSE	ENSG00000173083	Na	Na	Na	Na	Na	Na	Het;T>C	168;11|6	Hom;T>C	960;0|30
N	N	-	4	84234190	84234190	A	G	snp	intronic	 	 	 	 	HPSE	Hpse	ENSG00000173083	heparanase	chr4:84213614-84256306	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null	Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization.	Neutrophil degranulation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA	GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE			https://www.ncbi.nlm.nih.gov/omim/?term=604724	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE	rs6818355	0	0	0	1	0	0	intronic	intronic	intronic	HPSE	HPSE	ENSG00000173083	Na	Na	Na	Na	Na	Na	Het;A>G	269;9|10	Hom;A>G	255;0|9
N	N	-	4	84234229	84234229	G	A	snp	intronic	 	 	 	 	HPSE	Hpse	ENSG00000173083	heparanase	chr4:84213614-84256306	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null	Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization.	Neutrophil degranulation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA	GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE			https://www.ncbi.nlm.nih.gov/omim/?term=604724	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE	rs6840520	0.813498	0.7999	0.7877	1	0	0	intronic	intronic	intronic	HPSE	HPSE	ENSG00000173083	Na	Na	Na	Na	Na	Na	Het;G>A	526;26|22	Hom;G>A	797;0|27
N	N	-	4	84240654	84240654	G	A	snp	intronic	 	 	 	 	HPSE	Hpse	ENSG00000173083	heparanase	chr4:84213614-84256306	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null	Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization.	Neutrophil degranulation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA	GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE			https://www.ncbi.nlm.nih.gov/omim/?term=604724	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE	rs12501123	0.813498	0.7989	0.7852	1	0	0	intronic	intronic	intronic	HPSE	HPSE	ENSG00000173083	Na	Na	Na	Na	Na	Na	Het;G>A	532;27|27	Hom;G>A	1503;2|59
N	N	-	4	84240680	84240680	G	T	snp	intronic	 	 	 	 	HPSE	Hpse	ENSG00000173083	heparanase	chr4:84213614-84256306	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]	Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null	Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization.	Neutrophil degranulation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA	GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE			https://www.ncbi.nlm.nih.gov/omim/?term=604724	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE	rs12501124	0.813698	0	0	1	0	0	intronic	intronic	intronic	HPSE	HPSE	ENSG00000173083	Na	Na	Na	Na	Na	Na	Het;G>T	334;22|17	Hom;G>T	1107;0|39
N	N	-	4	86844835	86844835	A	G	snp	synonymous SNV	A48G	E16E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ARHGAP24	Arhgap24	ENSG00000138639	Rho GTPase activating protein 24	chr4:86396267-86923823	This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	E-Selectin; Echocardiography; Tobacco Use Disorder; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Electrocardiography; null; Varicose Veins	 	Rho GTPase cycle	GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP24	https://www.uniprot.org/uniprot/Q8N264		https://www.ncbi.nlm.nih.gov/omim/?term=610586	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP24&submit=Quick%0D%7759ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP24	rs6824722	0.396366	0.3165	0.3321	1	0	0	exonic	exonic	exonic	ARHGAP24	ARHGAP24	ENSG00000138639	synonymous SNV	synonymous SNV	unknown	ARHGAP24:NM_001025616:exon4:c.A303G:p.E101E,ARHGAP24:NM_001287805:exon2:c.A48G:p.E16E,ARHGAP24:NM_001042669:exon2:c.A18G:p.E6E,	ARHGAP24:uc010ikf.3:exon2:c.A48G:p.E16E,ARHGAP24:uc003hpj.3:exon4:c.A303G:p.E101E,ARHGAP24:uc003hpk.3:exon4:c.A303G:p.E101E,ARHGAP24:uc003hpl.3:exon2:c.A18G:p.E6E,	UNKNOWN	Het;A>G	766;40|36	Hom;A>G	2365;0|87
N	N	-	4	87019904	87019904	G	A	snp	UTR5	-182C>T	 	 	 	MAPK10	Mapk10	ENSG00000109339	mitogen-activated protein kinase 10	chr4:86936276-87515284	The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals and are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]	Asthma; HIV; Calcium-Binding Proteins	Mice homozygous for disruptions in this gene display a normal phenotype.  They are resistant to kainic acid induced seizures and show increased resistance to MPTP induced Parkinson's disease.	Activation of the AP-1 family of transcription factors	GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;IEA|GO:0006468;protein phosphorylation;IMP|GO:0007165;signal transduction;TAS|GO:0007254;JNK cascade;TAS|GO:0007258;JUN phosphorylation;IEA|GO:0009416;response to light stimulus;ISS|GO:0010468;regulation of gene expression;IBA|GO:0016310;phosphorylation;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042752;regulation of circadian rhythm;ISS|GO:0048511;rhythmic process;IEA|GO:0048666;neuron development;IBA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0043005;neuron projection;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004705;JUN kinase activity;TAS|GO:0004707;MAP kinase activity;IEA|GO:0004708;MAP kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAPK10	https://www.uniprot.org/uniprot/P53779	https://hpo.jax.org/app/browse/search?q=MAPK10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602897	http://www.informatics.jax.org/searchtool/Search.do?query=MAPK10&submit=Quick%0D%3843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK10	rs4133139	0.345447	0	0	1	0	0	intronic	UTR5	intronic	MAPK10	MAPK10(uc003hpn.3:c.-182C>T)	ENSG00000109339	Na	Na	Na	Na	Na	Na	Het;G>A	150;4|6	Hom;G>A	326;0|11
N	N	-	4	87679642	87679642	A	C	snp	intronic	 	 	 	 	PTPN13	Ptpn13	ENSG00000163629	protein tyrosine phosphatase, non-receptor type 13	chr4:87515468-87736324	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]	esophageal adenocarcinoma; Celiac Disease|; Tunica Media; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms; systemic lupus erythematosus; Colorectal Neoplasms; Chronic renal failure|Kidney Failure, Chronic; susceptibility to Multiple Sclerosis; Colorectal Neoplasms|Esophageal Neoplasms|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms	Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation.	Synthesis of PIPs at the plasma membrane	GO:0006470;protein dephosphorylation;IDA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0030027;lamellipodium;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPN13			https://www.ncbi.nlm.nih.gov/omim/?term=600267	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN13&submit=Quick%0D%11034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN13	rs1420624	0.674121	0	0	1	0	0	intronic	intronic	intronic	PTPN13	PTPN13	ENSG00000163629	Na	Na	Na	Na	Na	Na	Het;A>C	193;2|7	Hom;A>C	256;0|7
N	N	-	4	87684031	87684031	A	G	snp	synonymous SNV	A3648G	P1216P	hydrophobic,neutral	hydrophobic,neutral	PTPN13	Ptpn13	ENSG00000163629	protein tyrosine phosphatase, non-receptor type 13	chr4:87515468-87736324	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]	esophageal adenocarcinoma; Celiac Disease|; Tunica Media; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms; systemic lupus erythematosus; Colorectal Neoplasms; Chronic renal failure|Kidney Failure, Chronic; susceptibility to Multiple Sclerosis; Colorectal Neoplasms|Esophageal Neoplasms|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms	Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation.	Synthesis of PIPs at the plasma membrane	GO:0006470;protein dephosphorylation;IDA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0030027;lamellipodium;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPN13			https://www.ncbi.nlm.nih.gov/omim/?term=600267	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN13&submit=Quick%0D%11034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN13	rs710832	0.710863	0.7654	0.7113	1	0	0	exonic	exonic	exonic	PTPN13	PTPN13	ENSG00000163629	synonymous SNV	synonymous SNV	unknown	PTPN13:NM_080685:exon24:c.A3705G:p.P1235P,PTPN13:NM_006264:exon23:c.A3648G:p.P1216P,PTPN13:NM_080683:exon24:c.A3705G:p.P1235P,PTPN13:NM_080684:exon21:c.A3132G:p.P1044P,	PTPN13:uc003hqa.3:exon23:c.A3648G:p.P1216P,PTPN13:uc003hpz.3:exon24:c.A3705G:p.P1235P,PTPN13:uc003hpy.3:exon24:c.A3705G:p.P1235P,PTPN13:uc003hqb.3:exon21:c.A3132G:p.P1044P,	UNKNOWN	Het;A>G	1549;96|71	Hom;A>G	3929;3|144
N	N	-	4	87899308	87899312	TCTTA	T	indel	intronic	 	 	 	 	AFF1	Aff1	ENSG00000172493	AF4/FMR2 family member 1	chr4:87856154-88062206	This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]	Lupus Erythematosus, Systemic; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Triglycerides	Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility.		GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0008023;transcription elongation factor complex;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFF1			https://www.ncbi.nlm.nih.gov/omim/?term=159557	http://www.informatics.jax.org/searchtool/Search.do?query=AFF1&submit=Quick%0D%13177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF1	rs370433965	0.583666	0	0	1	0	0	intronic	intronic	intronic	AFF1	AFF1	ENSG00000172493	Na	Na	Na	Na	Na	Na	Het;-CTTA	212;1|6	Hom;-CTTA	278;0|7
N	N	-	4	89389640	89389640	C	A	snp	intronic	 	 	 	 	HERC5	 	ENSG00000138646	HECT and RLD domain containing E3 ubiquitin protein ligase 5	chr4:89378268-89427314	This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008]	Asthma	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002376;immune system process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0045087;innate immune response;IEA|GO:0050688;regulation of defense response to virus;IDA|GO:0051607;defense response to virus;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0042296;ISG15 transferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HERC5	https://www.uniprot.org/uniprot/Q9UII4		https://www.ncbi.nlm.nih.gov/omim/?term=608242	http://www.informatics.jax.org/searchtool/Search.do?query=HERC5&submit=Quick%0D%7763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC5	rs4585264	0.617212	0	0	1	0	0	intronic	intronic	intronic	HERC5	HERC5	ENSG00000138646	Na	Na	Na	Na	Na	Na	Het;C>A	129;9|7	Hom;C>A	496;0|18
N	N	-	4	89397091	89397091	A	G	snp	nonsynonymous SNV	A1492G	M498V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	HERC5	 	ENSG00000138646	HECT and RLD domain containing E3 ubiquitin protein ligase 5	chr4:89378268-89427314	This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008]	Asthma	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002376;immune system process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0045087;innate immune response;IEA|GO:0050688;regulation of defense response to virus;IDA|GO:0051607;defense response to virus;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0042296;ISG15 transferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HERC5	https://www.uniprot.org/uniprot/Q9UII4		https://www.ncbi.nlm.nih.gov/omim/?term=608242	http://www.informatics.jax.org/searchtool/Search.do?query=HERC5&submit=Quick%0D%7763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC5	rs7699006	0.613019	0.4548	0.4403	0.08	1	13	exonic	exonic	exonic	HERC5	HERC5	ENSG00000138646	nonsynonymous SNV	nonsynonymous SNV	unknown	HERC5:NM_016323:exon12:c.A1492G:p.M498V,	HERC5:uc011cdm.3:exon6:c.A406G:p.M136V,HERC5:uc003hrt.4:exon12:c.A1492G:p.M498V,	UNKNOWN	Het;A>G	1050;56|50	Hom;A>G	3151;0|115
N	N	-	4	89571260	89571260	A	G	snp	intronic	 	 	 	 	HERC3	Herc3	ENSG00000138641	HECT and RLD domain containing E3 ubiquitin protein ligase 3	chr4:89442199-89629693	This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC3	https://www.uniprot.org/uniprot/Q15034		https://www.ncbi.nlm.nih.gov/omim/?term=605200	http://www.informatics.jax.org/searchtool/Search.do?query=HERC3&submit=Quick%0D%7761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC3	rs2860420	0.447284	0	0	1	0	0	intronic	intronic	intronic	HERC3	HERC3	ENSG00000138641	Na	Na	Na	Na	Na	Na	Het;A>G	39;2|2	Hom;A>G	297;0|8
N	N	-	4	89575324	89575324	T	A	snp	intronic	 	 	 	 	HERC3	Herc3	ENSG00000138641	HECT and RLD domain containing E3 ubiquitin protein ligase 3	chr4:89442199-89629693	This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC3	https://www.uniprot.org/uniprot/Q15034		https://www.ncbi.nlm.nih.gov/omim/?term=605200	http://www.informatics.jax.org/searchtool/Search.do?query=HERC3&submit=Quick%0D%7761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC3	rs2860427	0.547125	0.4355	0.3702	1	0	0	intronic	intronic	intronic	HERC3	HERC3	ENSG00000138641	Na	Na	Na	Na	Na	Na	Het;T>A	212;16|12	Hom;T>A	864;0|31
N	N	-	4	89577214	89577214	A	T	snp	nonsynonymous SNV	A1097T	K366M	polar,hydrophilic,charged(+)	hydrophobic,neutral	HERC3	Herc3	ENSG00000138641	HECT and RLD domain containing E3 ubiquitin protein ligase 3	chr4:89442199-89629693	This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC3	https://www.uniprot.org/uniprot/Q15034		https://www.ncbi.nlm.nih.gov/omim/?term=605200	http://www.informatics.jax.org/searchtool/Search.do?query=HERC3&submit=Quick%0D%7761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC3	rs2972040	0.447085	0.3624	0.3311	0.27	3	11	intronic	exonic	exonic	HERC3	HERC3	ENSG00000138641	Na	nonsynonymous SNV	unknown	Na	HERC3:uc003hrv.4:exon9:c.A1097T:p.K366M,	UNKNOWN	Het;A>T	365;19|18	Hom;A>T	778;0|29
N	N	-	4	89585235	89585235	A	G	snp	intronic	 	 	 	 	HERC3	Herc3	ENSG00000138641	HECT and RLD domain containing E3 ubiquitin protein ligase 3	chr4:89442199-89629693	This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC3	https://www.uniprot.org/uniprot/Q15034		https://www.ncbi.nlm.nih.gov/omim/?term=605200	http://www.informatics.jax.org/searchtool/Search.do?query=HERC3&submit=Quick%0D%7761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC3	rs2972018	0.446685	0.3500	0	1	0	0	intronic	intronic	intronic	HERC3	HERC3	ENSG00000138641	Na	Na	Na	Na	Na	Na	Het;A>G	74;19|5	Hom;A>G	447;0|15
N	N	-	4	89588689	89588689	C	T	snp	intronic	 	 	 	 	HERC3	Herc3	ENSG00000138641	HECT and RLD domain containing E3 ubiquitin protein ligase 3	chr4:89442199-89629693	This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC3	https://www.uniprot.org/uniprot/Q15034		https://www.ncbi.nlm.nih.gov/omim/?term=605200	http://www.informatics.jax.org/searchtool/Search.do?query=HERC3&submit=Quick%0D%7761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC3	rs3017921	0.534145	0.4367	0.3938	1	0	0	intronic	intronic	intronic	HERC3	HERC3	ENSG00000138641	Na	Na	Na	Na	Na	Na	Het;C>T	277;8|12	Hom;C>T	770;0|28
N	N	-	4	89601410	89601410	A	T	snp	intronic	 	 	 	 	HERC3	Herc3	ENSG00000138641	HECT and RLD domain containing E3 ubiquitin protein ligase 3	chr4:89442199-89629693	This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]	Tobacco Use Disorder	Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC3	https://www.uniprot.org/uniprot/Q15034		https://www.ncbi.nlm.nih.gov/omim/?term=605200	http://www.informatics.jax.org/searchtool/Search.do?query=HERC3&submit=Quick%0D%7761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC3	rs17014449	0.142173	0.1092	0.0886	1	0	0	intronic	intronic	intronic	HERC3	HERC3	ENSG00000138641	Na	Na	Na	Na	Na	Na	Het;A>T	673;35|31	Hom;A>T	1915;0|70
N	N	-	4	90743317	90743317	T	TC	indel	UTR3	*38A>GA	 	 	 	SNCA	Snca	ENSG00000145335	synuclein alpha	chr4:90645250-90759466	Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]	Parkinson's disease ; Tobacco Use Disorder; psychoses; methamphetamine dependence; Parkinson's disease; dementia; Lewy Body Disease; Parkinson Disease; Multiple System Atrophy; Alzheimer's disease ; Parkinsons disease; dementia; cognitive function; Parkinson's disease ; multiple system atrophy; Alzheimer's Disease; Nerve Degeneration|Neurodegenerative Diseases; alcohol abuse; methamphetamine use; alcohol abuse drug dependence; null; C-Reactive Protein; Parkinson's disease	Mice homozygous for disruptions in this gene display resistance to the effects of MPTP on dopamine levels. Mice expressing a knock-in allele exhibit impaired coordination, long stride length, abnormal response to reserpine and reduced brain dopamine levels.	Amyloid fiber formation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001774;microglial cell activation;TAS|GO:0001921;positive regulation of receptor recycling;IDA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001956;positive regulation of neurotransmitter secretion;IEA|GO:0001963;synaptic transmission, dopaminergic;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006638;neutral lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007006;mitochondrial membrane organization;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007568;aging;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0010040;response to iron(II) ion;IDA|GO:0010517;regulation of phospholipase activity;IDA|GO:0010642;negative regulation of platelet-derived growth factor receptor signaling pathway;IDA|GO:0014048;regulation of glutamate secretion;IEA|GO:0014059;regulation of dopamine secretion;TAS|GO:0031115;negative regulation of microtubule polymerization;IDA|GO:0031623;receptor internalization;IDA|GO:0031648;protein destabilization;IDA|GO:0032026;response to magnesium ion;IDA|GO:0032410;negative regulation of transporter activity;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032769;negative regulation of monooxygenase activity;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034341;response to interferon-gamma;IDA|GO:0034599;cellular response to oxidative stress;IC|GO:0035067;negative regulation of histone acetylation;IDA|GO:0040012;regulation of locomotion;IEA|GO:0042220;response to cocaine;IEA|GO:0042416;dopamine biosynthetic process;TAS|GO:0042417;dopamine metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0043030;regulation of macrophage activation;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045807;positive regulation of endocytosis;IDA|GO:0045920;negative regulation of exocytosis;IMP|GO:0045963;negative regulation of dopamine metabolic process;IEA|GO:0046928;regulation of neurotransmitter secretion;IEA|GO:0048148;behavioral response to cocaine;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;IEA|GO:0048488;synaptic vesicle endocytosis;IEA|GO:0048489;synaptic vesicle transport;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050812;regulation of acyl-CoA biosynthetic process;IEA|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IDA|GO:0051583;dopamine uptake involved in synaptic transmission;TAS|GO:0051585;negative regulation of dopamine uptake involved in synaptic transmission;IDA|GO:0051612;negative regulation of serotonin uptake;IDA|GO:0051622;negative regulation of norepinephrine uptake;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IDA|GO:0061024;membrane organization;IEA|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0070555;response to interleukin-1;IDA|GO:0071280;cellular response to copper ion;IDA|GO:0071872;cellular response to epinephrine stimulus;TAS|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0097435;supramolecular fiber organization;TAS|GO:1901214;regulation of neuron death;IEA|GO:1901215;negative regulation of neuron death;IDA|GO:1902957;negative regulation of mitochondrial electron transport, NADH to ubiquinone;TAS|GO:1903284;positive regulation of glutathione peroxidase activity;IDA|GO:1903285;positive regulation of hydrogen peroxide catabolic process;IDA|GO:1903421;regulation of synaptic vesicle recycling;TAS|GO:1903426;regulation of reactive oxygen species biosynthetic process;TAS|GO:1904715;negative regulation of chaperone-mediated autophagy;IMP|GO:1905606;regulation of presynapse assembly;IGI|GO:2000377;regulation of reactive oxygen species metabolic process;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;TAS|GO:0005747;mitochondrial respiratory chain complex I;TAS|GO:0005764;lysosome;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0008021;synaptic vesicle;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016234;inclusion body;IDA|GO:0030054;cell junction;IEA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031092;platelet alpha granule membrane;IDA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0098794;postsynapse;IEA|GO:0099512;supramolecular fiber;IDA	GO:0000287;magnesium ion binding;IDA|GO:0005507;copper ion binding;IDA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008017;microtubule binding;IEA|GO:0008198;ferrous iron binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0019894;kinesin binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IDA|GO:0043014;alpha-tubulin binding;IPI|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IDA|GO:0043274;phospholipase binding;IEA|GO:0044212;transcription regulatory region DNA binding;TAS|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IEA|GO:0048156;tau protein binding;IDA|GO:0048487;beta-tubulin binding;IEA|GO:0051219;phosphoprotein binding;IDA|GO:0070840;dynein complex binding;IPI|GO:1903136;cuprous ion binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/SNCA	https://www.uniprot.org/uniprot/P37840	https://hpo.jax.org/app/browse/search?q=SNCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=163890	http://www.informatics.jax.org/searchtool/Search.do?query=SNCA&submit=Quick%0D%8724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNCA	rs3216147	0.257788	0	0.3378	1	0	0	intronic	intronic	UTR3	SNCA	SNCA	ENSG00000145335(ENST00000502987:c.*38A>GA)	Na	Na	Na	Na	Na	Na	Het;+C	250;13|10	Hom;+C	1031;0|30
N	N	-	4	94316763	94316763	T	G	snp	synonymous SNV	T966G	G322G	aliphatic,neutral	aliphatic,neutral	GRID2	Grid2	ENSG00000152208	glutamate ionotropic receptor delta type subunit 2	chr4:93225550-94695707	The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]	Albumins; Creatinine; Heart Failure; Cholesterol, HDL; Tobacco Use Disorder	Homozygotes for multiple spontaneous and targeted null mutations exhibit ataxia and impaired locomotion associated with cerebellar Purkinje cell abnormalities and loss, and on some backgrounds, male infertility due to lack of zona penetration by sperm.		GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0010975;regulation of neuron projection development;IEA|GO:0021707;cerebellar granule cell differentiation;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034613;cellular protein localization;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060134;prepulse inhibition;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0008066;glutamate receptor activity;TAS|GO:0030165;PDZ domain binding;IEA|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRID2	https://www.uniprot.org/uniprot/O43424	https://hpo.jax.org/app/browse/search?q=GRID2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602368	http://www.informatics.jax.org/searchtool/Search.do?query=GRID2&submit=Quick%0D%9516ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRID2	rs1385405	0.75599	0.7289	0.6722	1	0	0	exonic	exonic	exonic	GRID2	GRID2	ENSG00000152208	synonymous SNV	synonymous SNV	unknown	GRID2:NM_001286838:exon8:c.T966G:p.G322G,GRID2:NM_001510:exon9:c.T1251G:p.G417G,	GRID2:uc011cdu.2:exon8:c.T966G:p.G322G,GRID2:uc011cdt.2:exon9:c.T1251G:p.G417G,	UNKNOWN	Het;T>G	913;59|46	Hom;T>G	3374;0|124
N	N	-	4	95664988	95664988	A	G	snp	ncRNA_exonic	 	 	 	 	BMPR1B-AS1																		rs1055221	0.47524	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	BMPR1B-AS1	PDLIM5(dist=75610),BMPR1B(dist=14140)	ENSG00000249599	Na	Na	Na	Na	Na	Na	Het;A>G	1997;97|96	Hom;A>G	5936;0|216
N	N	-	4	9711634	9711634	C	G	snp	ncRNA_intronic	 	 	 	 	ALG1L3P																		rs66534644	0.381589	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR548I2(dist=153697),DRD5(dist=71624)	DQ584669(dist=3973),DRD5(dist=71624)	ENSG00000251087	Na	Na	Na	Na	Na	Na	Het;C>G	551;25|24	Hom;C>G	1236;0|42
N	N	-	4	98893437	98893437	A	G	snp	synonymous SNV	T927C	D309D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	STPG2	Stpg2	ENSG00000163116	sperm tail PG-rich repeat containing 2	chr4:98105244-99064391			 					http://www.genecards.org/index.php?path=/Search/keyword/STPG2				http://www.informatics.jax.org/searchtool/Search.do?query=STPG2&submit=Quick%0D%10883ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STPG2	rs783960	0.408946	0.4288	0.4589	1	0	0	exonic	exonic	exonic	STPG2	STPG2	ENSG00000163116	synonymous SNV	synonymous SNV	unknown	STPG2:NM_174952:exon7:c.T927C:p.D309D,	STPG2:uc003htt.2:exon7:c.T927C:p.D309D,	UNKNOWN	Het;A>G	283;19|13	Hom;A>G	1045;0|34
N	N	-	4	98893476	98893476	C	T	snp	synonymous SNV	G888A	S296S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	STPG2	Stpg2	ENSG00000163116	sperm tail PG-rich repeat containing 2	chr4:98105244-99064391			 					http://www.genecards.org/index.php?path=/Search/keyword/STPG2				http://www.informatics.jax.org/searchtool/Search.do?query=STPG2&submit=Quick%0D%10883ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STPG2	rs783959	0.409345	0.4288	0.4572	1	0	0	exonic	exonic	exonic	STPG2	STPG2	ENSG00000163116	synonymous SNV	synonymous SNV	unknown	STPG2:NM_174952:exon7:c.G888A:p.S296S,	STPG2:uc003htt.2:exon7:c.G888A:p.S296S,	UNKNOWN	Het;C>T	517;43|26	Hom;C>T	1518;0|56
N	N	-	4	99579479	99579479	C	T	snp	UTR5	-102G>A	 	 	 	TSPAN5	Tspan5	ENSG00000168785	tetraspanin 5	chr4:99391518-99579780	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]	Apolipoproteins B; Tobacco Use Disorder; Cholesterol; Neutrophils; Hip; Exercise Test; Respiratory Function Tests; Cholesterol, LDL	 		GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN5			https://www.ncbi.nlm.nih.gov/omim/?term=613136	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN5&submit=Quick%0D%12342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN5	rs1128478	0.108626	0	0	1	0	0	UTR5	UTR5	UTR5	TSPAN5(NM_005723:c.-102G>A)	TSPAN5(uc003hub.3:c.-102G>A)	ENSG00000168785(ENST00000305798:c.-102G>A,ENST00000508798:c.-102G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	178;9|8	Hom;C>T	381;0|13
N	N	-	4	99883133	99883133	T	A	snp	ncRNA_intronic	 	 	 	 	AC019131.1																		rs6846221	0.413139	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	EIF4E(dist=31347),METAP1(dist=33655)	EIF4E(dist=31347),METAP1(dist=33655)	ENSG00000263923	Na	Na	Na	Na	Na	Na	Het;T>A	286;12|15	Hom;T>A	1461;0|57
N	N	-	5	101592742	101592742	T	C	snp	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs174414	0.646965	0	0	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;T>C	159;2|7	Hom;T>C	129;0|4
N	N	-	5	101592809	101592809	T	A	snp	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs261101	0.75639	0.7404	0.7403	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;T>A	479;15|23	Hom;T>A	776;0|24
N	N	-	5	101595792	101595794	GTA	G	indel	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs113859065	0.14996	0	0	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;-TA	65;3|3	Hom;-TA	202;0|6
N	N	-	5	101595885	101595885	T	TGA	indel	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs148885155	0.782149	0.7868	0.7540	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;+GA	251;10|14	Hom;+GA	1393;0|36
N	N	-	5	101596032	101596036	AAAAT	A	indel	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs202209380	0.795128	0	0.5292	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;-AAAT	718;5|21	Hom;-AAAT	1561;0|41
N	N	-	5	101596072	101596077	ATATAT	A	indel	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs35999350	0.70028	0.7045	0.6509	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;-TATAT	468;5|13	Hom;-TATAT	908;0|21
N	N	-	5	101596097	101596097	A	G	snp	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs115266655	0.138778	0	0	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;A>G	341;3|9	Hom;A>G	872;0|20
N	N	-	5	101606518	101606518	G	GA	indel	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs33922930	0	0	0.7169	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;+A	426;22|21	Hom;+A	958;0|36
N	N	-	5	101631592	101631592	A	G	snp	intronic	 	 	 	 	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs3114659	0.748602	0.7161	0.7206	1	0	0	intronic	intronic	intronic	SLCO4C1	SLCO4C1	ENSG00000173930	Na	Na	Na	Na	Na	Na	Het;A>G	259;7|10	Hom;A>G	556;0|19
N	N	-	5	101631790	101631790	T	G	snp	synonymous SNV	A177C	P59P	hydrophobic,neutral	hydrophobic,neutral	SLCO4C1	Slco4c1	ENSG00000173930	solute carrier organic anion transporter family member 4C1	chr5:101569690-101632253	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; Hypertension; Leukocyte Count	 	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO4C1			https://www.ncbi.nlm.nih.gov/omim/?term=609013	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO4C1&submit=Quick%0D%13451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO4C1	rs10479190	0.141973	0.1772	0.2181	1	0	0	exonic	exonic	exonic	SLCO4C1	SLCO4C1	ENSG00000173930	synonymous SNV	synonymous SNV	unknown	SLCO4C1:NM_180991:exon1:c.A177C:p.P59P,	SLCO4C1:uc003knm.3:exon1:c.A177C:p.P59P,	UNKNOWN	Het;T>G	1948;88|90	Hom;T>G	4110;0|148
N	N	-	5	101724448	101724448	G	C	snp	nonsynonymous SNV	C1961G	T654R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	SLCO6A1	Slco6b1	ENSG00000205359	solute carrier organic anion transporter family member 6A1	chr5:101707486-101834720		Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1			https://www.ncbi.nlm.nih.gov/omim/?term=613365	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1	rs10055840	0.204073	0.2343	0.2575	0.08	1	13	exonic	exonic	exonic	SLCO6A1	SLCO6A1	ENSG00000205359	nonsynonymous SNV	nonsynonymous SNV	unknown	SLCO6A1:NM_173488:exon12:c.C1961G:p.T654R,SLCO6A1:NM_001289002:exon12:c.C1961G:p.T654R,SLCO6A1:NM_001289004:exon11:c.C1775G:p.T592R,	SLCO6A1:uc003knp.3:exon12:c.C1961G:p.T654R,SLCO6A1:uc003kno.3:exon7:c.C1202G:p.T401R,SLCO6A1:uc003knq.3:exon11:c.C1775G:p.T592R,SLCO6A1:uc003knn.3:exon12:c.C1961G:p.T654R,	UNKNOWN	Het;G>C	2176;90|96	Hom;G>C	5290;0|192
N	N	-	5	101726770	101726770	T	C	snp	intronic	 	 	 	 	SLCO6A1	Slco6b1	ENSG00000205359	solute carrier organic anion transporter family member 6A1	chr5:101707486-101834720		Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1			https://www.ncbi.nlm.nih.gov/omim/?term=613365	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1	rs10073892	0.154752	0.2066	0.2426	1	0	0	intronic	intronic	intronic	SLCO6A1	SLCO6A1	ENSG00000205359	Na	Na	Na	Na	Na	Na	Het;T>C	980;24|45	Hom;T>C	1573;0|59
N	N	-	5	101795556	101795556	G	A	snp	intronic	 	 	 	 	SLCO6A1	Slco6b1	ENSG00000205359	solute carrier organic anion transporter family member 6A1	chr5:101707486-101834720		Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1			https://www.ncbi.nlm.nih.gov/omim/?term=613365	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1	rs11749193	0.154553	0	0	1	0	0	intronic	intronic	intronic	SLCO6A1	SLCO6A1	ENSG00000205359	Na	Na	Na	Na	Na	Na	Het;G>A	216;8|9	Hom;G>A	435;0|15
N	N	-	5	101816228	101816228	G	A	snp	intronic	 	 	 	 	SLCO6A1	Slco6b1	ENSG00000205359	solute carrier organic anion transporter family member 6A1	chr5:101707486-101834720		Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1			https://www.ncbi.nlm.nih.gov/omim/?term=613365	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1	rs10041652	0.154353	0	0	1	0	0	intronic	intronic	intronic	SLCO6A1	SLCO6A1	ENSG00000205359	Na	Na	Na	Na	Na	Na	Het;G>A	286;7|13	Hom;G>A	671;0|23
N	N	-	5	101944178	101944178	C	T	snp	downstream	 	 	 	 	AX747345																		rs57189793	0.241414	0	0	1	0	0	ncRNA_intronic	downstream	ncRNA_intronic	LINC00492	AX747345	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;C>T	98;23|8	Hom;C>T	614;0|23
N	N	-	5	101944200	101944200	T	TTGATGCAAAAAG	indel	ncRNA_exonic	 	 	 	 	LINC00491																		rs113247307	0.680511	0	0	1	0	0	ncRNA_exonic	downstream	ncRNA_intronic	LINC00491	AX747345	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;+TGATGCAAAAAG	445;35|13	Hom;+TGATGCAAAAAG	1806;0|36
N	N	-	5	101944332	101944332	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00491																		rs60284576	0.152157	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00491	AX747345	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;T>C	1360;45|61	Hom;T>C	3974;1|145
N	N	-	5	101944414	101944414	T	A	snp	ncRNA_exonic	 	 	 	 	LINC00491																		rs56170429	0.196685	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00491	AX747345	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;T>A	1603;68|75	Hom;T>A	4721;1|174
N	N	-	5	101944699	101944699	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00491																		rs3105485	0.599241	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00491	AX747345	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;C>T	1503;106|72	Hom;C>T	5060;1|176
N	N	-	5	101944793	101944793	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00491																		rs7723461	0.241613	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00491	AX747345	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;A>G	1129;103|54	Hom;A>G	4445;2|159
N	N	-	5	101947558	101947558	A	G	snp	ncRNA_intronic	 	 	 	 	AX747345																		rs995962	0.679513	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00491,LINC00492	AX747345	ENSG00000250682,ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;A>G	334;26|16	Hom;A>G	1409;0|49
N	N	-	5	101953047	101953047	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00492																		rs3105477	0.682308	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00492	AX747345(dist=4922),PAM(dist=248480)	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;G>A	1319;80|63	Hom;G>A	3079;0|116
N	N	-	5	101953116	101953116	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00492																		rs10067699	0.196885	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00492	AX747345(dist=4991),PAM(dist=248411)	ENSG00000250958	Na	Na	Na	Na	Na	Na	Het;C>T	1336;86|67	Hom;C>T	2943;0|106
N	N	-	5	101971904	101971904	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00491																		rs3114607	0.697883	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC00491	AX747345(dist=23779),PAM(dist=229623)	ENSG00000250682	Na	Na	Na	Na	Na	Na	Het;A>G	457;38|26	Hom;A>G	1955;0|74
N	N	-	5	102018355	102018360	TCCTGC	T	indel	intergenic	 	 	 	 	LINC00491																		rs147482585	0.542732	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00491(dist=11187),PAM(dist=183167)	AX747345(dist=70230),PAM(dist=183167)	ENSG00000250682(dist=11092),ENSG00000145730(dist=71325)	Na	Na	Na	Na	Na	Na	Het;-CCTGC	119;4|4	Hom;-CCTGC	188;0|5
N	N	-	5	10250430	10250430	G	A	snp	unknown	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2548546	0.685304	0.7130	0.7889	1	0	0	UTR5	UTR5	exonic	CCT5(NM_012073:c.-23G>A)	CCT5(uc011cmq.2:c.-57G>A,uc003jeq.3:c.-23G>A,uc011cmr.2:c.-23G>A)	ENSG00000150753	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	613;69|33	Hom;G>A	2434;0|92
N	N	-	5	10250443	10250443	T	C	snp	unknown	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2578618	0.685304	0.7181	0.7892	1	0	0	UTR5	UTR5	exonic	CCT5(NM_012073:c.-10T>C)	CCT5(uc011cmq.2:c.-44T>C,uc003jeq.3:c.-10T>C,uc011cmr.2:c.-10T>C)	ENSG00000150753	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	761;75|34	Hom;T>C	2973;0|109
N	N	-	5	10254117	10254117	C	T	snp	intronic	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2259642	0.6877	0	0	1	0	0	intronic	intronic	intronic	CCT5	CCT5	ENSG00000150753	Na	Na	Na	Na	Na	Na	Het;C>T	59;4|3	Hom;C>T	356;0|11
N	N	-	5	10254817	10254817	A	G	snp	synonymous SNV	A84G	G28G	aliphatic,neutral	aliphatic,neutral	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2578617	0.685903	0.7187	0.7895	1	0	0	exonic	exonic	exonic	CCT5	CCT5	ENSG00000150753	synonymous SNV	synonymous SNV	unknown	CCT5:NM_012073:exon3:c.A198G:p.G66G,	CCT5:uc011cms.2:exon3:c.A84G:p.G28G,CCT5:uc003jeq.3:exon3:c.A198G:p.G66G,	UNKNOWN	Het;A>G	486;28|23	Hom;A>G	1454;1|52
N	N	-	5	10255021	10255021	T	C	snp	intronic	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2607294	0.685503	0	0	1	0	0	intronic	intronic	intronic	CCT5	CCT5	ENSG00000150753	Na	Na	Na	Na	Na	Na	Het;T>C	186;8|10	Hom;T>C	482;0|19
N	N	-	5	10255083	10255083	A	C	snp	intronic	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2578616	0.685903	0	0	1	0	0	intronic	intronic	intronic	CCT5	CCT5	ENSG00000150753	Na	Na	Na	Na	Na	Na	Het;A>C	131;3|4	Hom;A>C	254;0|7
N	N	-	5	10255096	10255096	C	CCT	indel	intronic	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs3070506	0.685903	0	0	1	0	0	intronic	intronic	intronic	CCT5	CCT5	ENSG00000150753	Na	Na	Na	Na	Na	Na	Het;+CT	122;2|4	Hom;+CT	183;0|4
N	N	-	5	10256161	10256161	T	C	snp	synonymous SNV	T312C	R104R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs1042392	0.692492	0.7274	0.7948	1	0	0	exonic	exonic	exonic	CCT5	CCT5	ENSG00000150753	synonymous SNV	synonymous SNV	unknown	CCT5:NM_012073:exon4:c.T426C:p.R142R,	CCT5:uc011cms.2:exon4:c.T312C:p.R104R,CCT5:uc003jeq.3:exon4:c.T426C:p.R142R,CCT5:uc011cmr.2:exon3:c.T261C:p.R87R,CCT5:uc011cmt.2:exon3:c.T147C:p.R49R,	UNKNOWN	Het;T>C	990;51|48	Hom;T>C	3076;0|116
N	N	-	5	10256365	10256365	C	T	snp	intronic	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2578614	0.686102	0	0	1	0	0	intronic	intronic	intronic	CCT5	CCT5	ENSG00000150753	Na	Na	Na	Na	Na	Na	Het;C>T	152;13|8	Hom;C>T	417;0|14
N	N	-	5	10258125	10258125	G	A	snp	intronic	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2457156	0.685703	0	0	1	0	0	intronic	intronic	intronic	CCT5	CCT5	ENSG00000150753	Na	Na	Na	Na	Na	Na	Het;G>A	242;16|11	Hom;G>A	872;0|30
N	N	-	5	10261966	10261966	G	A	snp	nonsynonymous SNV	G829A	V277M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2244717	0.685903	0	0.8035	1	0	0	intronic	exonic	intronic	CCT5	CCT5	ENSG00000150753	Na	nonsynonymous SNV	Na	Na	CCT5:uc011cmq.2:exon5:c.G829A:p.V277M,	Na	Het;G>A	294;2|12	Hom;G>A	688;0|22
N	N	-	5	10262740	10262740	C	A	snp	intronic	 	 	 	 	CCT5	Cct5	ENSG00000150753	chaperonin containing TCP1 subunit 5	chr5:10250033-10266524	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]	Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies	 	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP	GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCT5	https://www.uniprot.org/uniprot/P48643	https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610150	http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5	rs2578642	0.685903	0.7187	0.7894	1	0	0	intronic	intronic	intronic	CCT5	CCT5	ENSG00000150753	Na	Na	Na	Na	Na	Na	Het;C>A	240;23|13	Hom;C>A	926;0|35
N	N	-	5	10264962	10264962	A	G	snp	ncRNA_exonic	 	 	 	 	AC012640.4																		rs544	0.685703	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*67A>G)	CCT5(uc003jeq.3:c.*67A>G,uc011cmr.2:c.*67A>G,uc011cms.2:c.*67A>G,uc011cmt.2:c.*67A>G)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;A>G	334;28|17	Hom;A>G	1729;0|62
N	N	-	5	10265076	10265076	C	T	snp	ncRNA_exonic	 	 	 	 	AC012640.4																		rs699113	0.685903	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*181C>T)	CCT5(uc003jeq.3:c.*181C>T,uc011cmr.2:c.*181C>T,uc011cms.2:c.*181C>T,uc011cmt.2:c.*181C>T)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;C>T	224;17|11	Hom;C>T	784;0|27
N	N	-	5	10265278	10265278	A	G	snp	ncRNA_exonic	 	 	 	 	AC012640.4																		rs2662533	0.685903	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*383A>G)	CCT5(uc003jeq.3:c.*383A>G,uc011cmr.2:c.*383A>G,uc011cms.2:c.*383A>G,uc011cmt.2:c.*383A>G)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;A>G	1699;47|44	Hom;A>G	3426;0|94
N	N	-	5	10265462	10265462	G	A	snp	ncRNA_exonic	 	 	 	 	AC012640.4																		rs2607286	0	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*567G>A)	CCT5(uc003jeq.3:c.*567G>A,uc011cmr.2:c.*567G>A,uc011cms.2:c.*567G>A,uc011cmt.2:c.*567G>A)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;G>A	679;39|34	Hom;G>A	1683;0|62
N	N	-	5	10265488	10265488	A	G	snp	ncRNA_exonic	 	 	 	 	AC012640.4																		rs2578640	0.686102	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*593A>G)	CCT5(uc003jeq.3:c.*593A>G,uc011cmr.2:c.*593A>G,uc011cms.2:c.*593A>G,uc011cmt.2:c.*593A>G)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;A>G	567;39|28	Hom;A>G	1509;0|53
N	N	-	5	10265719	10265719	C	G	snp	ncRNA_exonic	 	 	 	 	AC012640.4																		rs2578639	0.663139	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*824C>G)	CCT5(uc003jeq.3:c.*824C>G,uc011cmr.2:c.*824C>G,uc011cms.2:c.*824C>G,uc011cmt.2:c.*824C>G)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;C>G	371;38|19	Hom;C>G	1971;0|66
N	N	-	5	10265886	10265886	C	CTCTAT	indel	ncRNA_exonic	 	 	 	 	AC012640.4																		rs112586209	0.680911	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*991C>CTCTAT)	CCT5(uc003jeq.3:c.*991C>CTCTAT,uc011cmr.2:c.*991C>CTCTAT,uc011cms.2:c.*991C>CTCTAT,uc011cmt.2:c.*991C>CTCTAT)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;+TCTAT	911;48|27	Hom;+TCTAT	2098;0|51
N	N	-	5	10266067	10266067	G	T	snp	ncRNA_exonic	 	 	 	 	AC012640.4																		rs2578638	0.887979	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	CCT5(NM_012073:c.*1172G>T)	CCT5(uc003jeq.3:c.*1172G>T,uc011cmr.2:c.*1172G>T,uc011cms.2:c.*1172G>T,uc011cmt.2:c.*1172G>T)	ENSG00000271980	Na	Na	Na	Na	Na	Na	Het;G>T	909;24|40	Hom;G>T	949;0|32
N	N	-	5	103096061	103096061	G	C	snp	intergenic	 	 	 	 	NUDT12	Nudt12	ENSG00000112874	nudix hydrolase 12	chr5:102884556-102898494	Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]	Platelet Count; Waist Circumference; Blood Proteins; Arteries; Alanine Transaminase; Tobacco Use Disorder; Fibrinogen; Body Height; Hip; Body Weights and Measures; C-Reactive Protein; Audiometry, Pure-Tone	 	Nicotinamide salvaging	GO:0006742;NADP catabolic process;IDA|GO:0019677;NAD catabolic process;IDA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS	GO:0000210;NAD+ diphosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0035529;NADH pyrophosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT12	https://www.uniprot.org/uniprot/Q9BQG2		https://www.ncbi.nlm.nih.gov/omim/?term=609232	http://www.informatics.jax.org/searchtool/Search.do?query=NUDT12&submit=Quick%0D%4300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT12	rs490319	0.729034	0	0	1	0	0	intergenic	intergenic	intergenic	NUDT12(dist=197559),RAB9BP1(dist=1339114)	NUDT12(dist=197571),RAB9BP1(dist=1339114)	ENSG00000112874(dist=197567),ENSG00000251026(dist=319551)	Na	Na	Na	Na	Na	Na	Het;G>C	273;22|13	Hom;G>C	1280;0|45
N	N	-	5	10322267	10322267	C	T	snp	intergenic	 	 	 	 	CMBL	Cmbl	ENSG00000164237	carboxymethylenebutenolidase homolog	chr5:10275987-10308138	CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010]	Arteries	 	Phase I - Functionalization of compounds	GO:0006805;xenobiotic metabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0016787;hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/CMBL			https://www.ncbi.nlm.nih.gov/omim/?term=613379	http://www.informatics.jax.org/searchtool/Search.do?query=CMBL&submit=Quick%0D%11249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CMBL	rs3843012	0.460064	0	0	1	0	0	intergenic	intergenic	intergenic	CMBL(dist=14099),MARCH6(dist=31484)	CMBL(dist=14099),MARCH6(dist=31484)	ENSG00000164237(dist=14129),ENSG00000252671(dist=15122)	Na	Na	Na	Na	Na	Na	Het;C>T	251;10|10	Hom;C>T	269;0|9
N	N	-	5	103396131	103396131	C	T	snp	intergenic	 	 	 	 	NUDT12	Nudt12	ENSG00000112874	nudix hydrolase 12	chr5:102884556-102898494	Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]	Platelet Count; Waist Circumference; Blood Proteins; Arteries; Alanine Transaminase; Tobacco Use Disorder; Fibrinogen; Body Height; Hip; Body Weights and Measures; C-Reactive Protein; Audiometry, Pure-Tone	 	Nicotinamide salvaging	GO:0006742;NADP catabolic process;IDA|GO:0019677;NAD catabolic process;IDA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS	GO:0000210;NAD+ diphosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0035529;NADH pyrophosphatase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUDT12	https://www.uniprot.org/uniprot/Q9BQG2		https://www.ncbi.nlm.nih.gov/omim/?term=609232	http://www.informatics.jax.org/searchtool/Search.do?query=NUDT12&submit=Quick%0D%4300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT12	rs1289223	0.425719	0	0	1	0	0	intergenic	intergenic	intergenic	NUDT12(dist=497629),RAB9BP1(dist=1039044)	NUDT12(dist=497641),RAB9BP1(dist=1039044)	ENSG00000112874(dist=497637),ENSG00000251026(dist=19481)	Na	Na	Na	Na	Na	Na	Het;C>T	119;4|5	Hom;C>T	177;0|6
N	N	-	5	1036616	1036617	CA	C	indel	intronic	 	 	 	 	NKD2	Nkd2	ENSG00000276920	naked cuticle homolog 2	chr5:1008944-1039058	This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]		Mice homozygous for a reporter allele are viable and fertile but show a slight and background-sensitive reduction in average  litter size relative to control mice.		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0010954;positive regulation of protein processing;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0048210;Golgi vesicle fusion to target membrane;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0070382;exocytic vesicle;IDA|GO:0071944;cell periphery;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032036;myosin heavy chain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NKD2	https://www.uniprot.org/uniprot/Q969F2		https://www.ncbi.nlm.nih.gov/omim/?term=607852	http://www.informatics.jax.org/searchtool/Search.do?query=NKD2&submit=Quick%0D%21719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKD2	rs367843383	0	0	0	1	0	0	intronic	intronic	intronic	NKD2	NKD2	ENSG00000145506	Na	Na	Na	Na	Na	Na	Het;-A	162;2|8	Hom;-A	497;0|15
N	N	-	5	10397621	10397621	G	C	snp	intronic	 	 	 	 	MARCH6	March6	ENSG00000145495	membrane associated ring-CH-type finger 6	chr5:10353815-10440500	This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	Body Mass Index	 	ER Quality Control Compartment (ERQC)	GO:0010498;proteasomal protein catabolic process;IDA|GO:0016567;protein ubiquitination;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0036503;ERAD pathway;TAS|GO:0070936;protein K48-linked ubiquitination;IDA|GO:1904380;endoplasmic reticulum mannose trimming;TAS	GO:0000835;ER ubiquitin ligase complex;IC|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0044322;endoplasmic reticulum quality control compartment;IEA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0031624;ubiquitin conjugating enzyme binding;IPI|GO:0046872;metal ion binding;IEA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;TAS|GO:1990381;ubiquitin-specific protease binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MARCH6	https://www.uniprot.org/uniprot/O60337		https://www.ncbi.nlm.nih.gov/omim/?term=613297	http://www.informatics.jax.org/searchtool/Search.do?query=MARCH6&submit=Quick%0D%8748ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARCH6	rs3852167	0.4373	0	0	1	0	0	intronic	intronic	intronic	MARCH6	MARCH6	ENSG00000145495	Na	Na	Na	Na	Na	Na	Het;G>C	81;3|3	Hom;G>C	109;0|4
N	N	-	5	104046038	104046038	C	G	snp	ncRNA_intronic	 	 	 	 	AC099520.1																		rs325525	0.979832	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	NUDT12(dist=1147536),RAB9BP1(dist=389137)	NUDT12(dist=1147548),RAB9BP1(dist=389137)	ENSG00000251574	Na	Na	Na	Na	Na	Na	Het;C>G	592;24|28	Hom;C>G	1550;0|60
N	N	-	5	104296086	104296086	C	T	snp	ncRNA_intronic	 	 	 	 	AC099520.1																		rs3891545	0.120607	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	NUDT12(dist=1397584),RAB9BP1(dist=139089)	NUDT12(dist=1397596),RAB9BP1(dist=139089)	ENSG00000251574,ENSG00000253584	Na	Na	Na	Na	Na	Na	Het;C>T	305;1|8	Hom;C>T	287;0|7
N	N	-	5	104296088	104296088	G	C	snp	ncRNA_intronic	 	 	 	 	AC099520.1																		rs3906770	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	NUDT12(dist=1397586),RAB9BP1(dist=139087)	NUDT12(dist=1397598),RAB9BP1(dist=139087)	ENSG00000251574,ENSG00000253584	Na	Na	Na	Na	Na	Na	Het;G>C	305;1|8	Hom;G>C	287;0|7
N	N	-	5	104296095	104296095	A	G	snp	ncRNA_intronic	 	 	 	 	AC099520.1																		rs3845170	0.559105	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	NUDT12(dist=1397593),RAB9BP1(dist=139080)	NUDT12(dist=1397605),RAB9BP1(dist=139080)	ENSG00000251574,ENSG00000253584	Na	Na	Na	Na	Na	Na	Het;A>G	263;1|7	Hom;A>G	287;0|6
N	N	-	5	104435148	104435148	C	T	snp	upstream	 	 	 	 	RAB9BP1																		rs4476696	0.885184	0	0	1	0	0	upstream	upstream	ncRNA_intronic	RAB9BP1	RAB9BP1	ENSG00000251574,ENSG00000253584	Na	Na	Na	Na	Na	Na	Het;C>T	280;9|11	Hom;C>T	620;0|21
N	N	-	5	104435376	104435376	T	C	snp	ncRNA_exonic	 	 	 	 	RAB9BP1																		rs4571441	0.927117	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RAB9BP1	RAB9BP1	ENSG00000232159	Na	Na	Na	Na	Na	Na	Het;T>C	2165;128|108	Hom;T>C	6589;2|244
N	N	-	5	104885728	104885728	G	A	snp	intergenic	 	 	 	 	AC099520.1																		rs7700683	0.42512	0	0	1	0	0	intergenic	intergenic	intergenic	RAB9BP1(dist=449929),LOC102467213(dist=1265170)	RAB9BP1(dist=449929),EFNA5(dist=1826862)	ENSG00000251574(dist=157057),ENSG00000201790(dist=372967)	Na	Na	Na	Na	Na	Na	Het;G>A	205;6|8	Hom;G>A	299;0|11
N	N	-	5	10505287	10505287	C	T	snp	UTR3	*303G>A	 	 	 	LINC02213																		rs7731249	0.236621	0	0	1	0	0	intergenic	intergenic	UTR3	LOC101929412(dist=2447),ANKRD33B(dist=59148)	ROPN1L(dist=40149),ANKRD33B(dist=59148)	ENSG00000249160(ENST00000506021:c.*303G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1282;106|67	Hom;C>T	3843;1|141
N	N	-	5	10505467	10505467	A	G	snp	UTR3	*123T>C	 	 	 	LINC02213																		rs62362463	0.237819	0	0	1	0	0	intergenic	intergenic	UTR3	LOC101929412(dist=2627),ANKRD33B(dist=58968)	ROPN1L(dist=40329),ANKRD33B(dist=58968)	ENSG00000249160(ENST00000506021:c.*123T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	594;23|26	Hom;A>G	1593;0|53
N	N	-	5	10505585	10505585	A	G	snp	UTR3	*5T>C	 	 	 	LINC02213																		rs17816571	0.236621	0	0.2731	1	0	0	intergenic	intergenic	UTR3	LOC101929412(dist=2745),ANKRD33B(dist=58850)	ROPN1L(dist=40447),ANKRD33B(dist=58850)	ENSG00000249160(ENST00000506021:c.*5T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1913;108|95	Hom;A>G	4812;0|173
N	N	-	5	10521729	10521729	A	G	snp	intergenic	 	 	 	 	LINC02213																		rs11743774	0.917133	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101929412(dist=18889),ANKRD33B(dist=42706)	ROPN1L(dist=56591),ANKRD33B(dist=42706)	ENSG00000249160(dist=12423),ENSG00000214179(dist=19839)	Na	Na	Na	Na	Na	Na	Het;A>G	36;5|2	Hom;A>G	264;0|7
N	N	-	5	10522013	10522013	T	C	snp	intergenic	 	 	 	 	LINC02213																		rs2962327	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101929412(dist=19173),ANKRD33B(dist=42422)	ROPN1L(dist=56875),ANKRD33B(dist=42422)	ENSG00000249160(dist=12707),ENSG00000214179(dist=19555)	Na	Na	Na	Na	Na	Na	Het;T>C	847;50|40	Hom;T>C	2529;0|93
N	N	-	5	10533516	10533516	G	A	snp	intergenic	 	 	 	 	NONE																		rs2936576	0.890176	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101929412(dist=30676),ANKRD33B(dist=30919)	ROPN1L(dist=68378),ANKRD33B(dist=30919)	NONE(dist=NONE),ENSG00000214179(dist=8052)	Na	Na	Na	Na	Na	Na	Het;G>A	33;4|4	Hom;G>A	217;0|8
N	N	-	5	105685815	105685815	C	G	snp	intergenic	 	 	 	 	RNA5SP189																		rs6596664	0	0	0	1	0	0	intergenic	intergenic	intergenic	RAB9BP1(dist=1250016),LOC102467213(dist=465083)	RAB9BP1(dist=1250016),EFNA5(dist=1026775)	ENSG00000201790(dist=427006),ENSG00000251204(dist=65462)	Na	Na	Na	Na	Na	Na	Het;C>G	1753;67|49	Hom;C>G	4469;0|102
N	N	-	5	105685824	105685824	T	C	snp	intergenic	 	 	 	 	RNA5SP189																		rs6596665	0.357827	0	0	1	0	0	intergenic	intergenic	intergenic	RAB9BP1(dist=1250025),LOC102467213(dist=465074)	RAB9BP1(dist=1250025),EFNA5(dist=1026766)	ENSG00000201790(dist=427015),ENSG00000251204(dist=65453)	Na	Na	Na	Na	Na	Na	Het;T>C	1733;77|49	Hom;T>C	4615;0|112
N	N	-	5	105685940	105685940	C	T	snp	intergenic	 	 	 	 	RNA5SP189																		rs6885323	0.302316	0	0	1	0	0	intergenic	intergenic	intergenic	RAB9BP1(dist=1250141),LOC102467213(dist=464958)	RAB9BP1(dist=1250141),EFNA5(dist=1026650)	ENSG00000201790(dist=427131),ENSG00000251204(dist=65337)	Na	Na	Na	Na	Na	Na	Het;C>T	226;31|14	Hom;C>T	962;0|36
N	N	-	5	105879563	105879563	C	T	snp	ncRNA_exonic	 	 	 	 	AC114940.1																		rs6864980	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RAB9BP1(dist=1443764),LOC102467213(dist=271335)	RAB9BP1(dist=1443764),EFNA5(dist=833027)	ENSG00000250145	Na	Na	Na	Na	Na	Na	Het;C>T	591;47|33	Hom;C>T	2595;0|100
N	N	-	5	10638180	10638180	T	C	snp	synonymous SNV	T537C	P179P	hydrophobic,neutral	hydrophobic,neutral	ANKRD33B	Ankrd33b	ENSG00000164236	ankyrin repeat domain 33B	chr5:10564442-10650308		Heart Rate	 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD33B				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD33B&submit=Quick%0D%11248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD33B	rs11745612	0.371006	0.4306	0.4437	1	0	0	exonic	exonic	exonic	ANKRD33B	ANKRD33B	ENSG00000164236	synonymous SNV	synonymous SNV	unknown	ANKRD33B:NM_001164440:exon3:c.T537C:p.P179P,	ANKRD33B:uc021xwp.1:exon3:c.T537C:p.P179P,	UNKNOWN	Het;T>C	1046;72|51	Hom;T>C	3523;0|131
N	N	-	5	10638364	10638364	A	G	snp	intronic	 	 	 	 	ANKRD33B	Ankrd33b	ENSG00000164236	ankyrin repeat domain 33B	chr5:10564442-10650308		Heart Rate	 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD33B				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD33B&submit=Quick%0D%11248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD33B	rs6889196	0.372404	0	0	1	0	0	intronic	intronic	intronic	ANKRD33B	ANKRD33B	ENSG00000164236	Na	Na	Na	Na	Na	Na	Het;A>G	210;11|8	Hom;A>G	741;0|25
N	N	-	5	106405569	106405569	T	G	snp	intergenic	 	 	 	 	LINC01950																		rs114929205	0.00758786	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102467213(dist=58854),EFNA5(dist=307021)	RAB9BP1(dist=1969770),EFNA5(dist=307021)	ENSG00000251027(dist=58854),ENSG00000250273(dist=125288)	Na	Na	Na	Na	Na	Na	Het;T>G	78;6|5	Hom;T>G	148;0|6
N	N	-	5	106405657	106405657	T	C	snp	intergenic	 	 	 	 	LINC01950																		rs4618413	0.71865	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102467213(dist=58942),EFNA5(dist=306933)	RAB9BP1(dist=1969858),EFNA5(dist=306933)	ENSG00000251027(dist=58942),ENSG00000250273(dist=125200)	Na	Na	Na	Na	Na	Na	Het;T>C	512;25|25	Hom;T>C	1000;0|41
N	N	-	5	10649784	10649784	G	A	snp	synonymous SNV	G1044A	A348A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ANKRD33B	Ankrd33b	ENSG00000164236	ankyrin repeat domain 33B	chr5:10564442-10650308		Heart Rate	 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD33B				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD33B&submit=Quick%0D%11248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD33B	rs113222960	0.260184	0	0.2764	1	0	0	exonic	exonic	exonic	ANKRD33B	ANKRD33B	ENSG00000164236	synonymous SNV	synonymous SNV	unknown	ANKRD33B:NM_001164440:exon4:c.G1044A:p.A348A,	ANKRD33B:uc021xwp.1:exon4:c.G1044A:p.A348A,	UNKNOWN	Het;G>A	221;38|14	Hom;G>A	1499;0|59
N	N	-	5	10650251	10650257	CGGGGCT	C	indel	UTR3	*26_*32delinsC	 	 	 	ANKRD33B	Ankrd33b	ENSG00000164236	ankyrin repeat domain 33B	chr5:10564442-10650308		Heart Rate	 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD33B				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD33B&submit=Quick%0D%11248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD33B	rs140897444	0.275359	0.2854	0.2668	1	0	0	UTR3	UTR3	UTR3	ANKRD33B(NM_001164440:c.*26_*32delinsC)	ANKRD33B(uc021xwp.1:c.*26_*32delinsC)	ENSG00000164236(ENST00000296657:c.*26_*32delinsC)	Na	Na	Na	Na	Na	Na	Het;-GGGGCT	35;4|2	Hom;-GGGGCT	143;0|4
N	N	-	5	106555504	106555504	T	C	snp	intergenic	 	 	 	 	PSMC1P5																		rs6881511	0.707268	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102467213(dist=208789),EFNA5(dist=157086)	NONE(dist=NONE),EFNA5(dist=157086)	ENSG00000250273(dist=24471),ENSG00000184349(dist=157086)	Na	Na	Na	Na	Na	Na	Het;T>C	660;29|28	Hom;T>C	1341;0|52
N	N	-	5	10664427	10664427	A	C	snp	downstream	 	 	 	 	AC106760.2																		rs12523289	0.284145	0	0	1	0	0	intergenic	intergenic	downstream	ANKRD33B(dist=6499),DAP(dist=14915)	ANKRD33B(dist=6499),DAP(dist=14915)	ENSG00000251548	Na	Na	Na	Na	Na	Na	Het;A>C	132;2|5	Hom;A>C	130;0|4
N	N	-	5	10664578	10664578	A	G	snp	downstream	 	 	 	 	AC106760.2																		rs12523335	0.284145	0	0	1	0	0	intergenic	intergenic	downstream	ANKRD33B(dist=6650),DAP(dist=14764)	ANKRD33B(dist=6650),DAP(dist=14764)	ENSG00000251548	Na	Na	Na	Na	Na	Na	Het;A>G	1372;23|59	Hom;A>G	2951;2|117
N	N	-	5	10664632	10664632	A	G	snp	ncRNA_exonic	 	 	 	 	AC106760.2																		rs12523340	0.230631	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ANKRD33B(dist=6704),DAP(dist=14710)	ANKRD33B(dist=6704),DAP(dist=14710)	ENSG00000251548	Na	Na	Na	Na	Na	Na	Het;A>G	1794;44|76	Hom;A>G	3388;0|115
N	N	-	5	10664999	10664999	C	G	snp	ncRNA_exonic	 	 	 	 	AC106760.2																		rs111384023	0.28115	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ANKRD33B(dist=7071),DAP(dist=14343)	ANKRD33B(dist=7071),DAP(dist=14343)	ENSG00000251548	Na	Na	Na	Na	Na	Na	Het;C>G	1182;26|48	Hom;C>G	2235;0|78
N	N	-	5	10665259	10665259	C	T	snp	upstream	 	 	 	 	AC106760.2																		rs11954194	0.28115	0	0	1	0	0	intergenic	intergenic	upstream	ANKRD33B(dist=7331),DAP(dist=14083)	ANKRD33B(dist=7331),DAP(dist=14083)	ENSG00000251548	Na	Na	Na	Na	Na	Na	Het;C>T	198;7|9	Hom;C>T	757;0|26
N	N	-	5	106723326	106723326	A	T	snp	intronic	 	 	 	 	EFNA5	Efna5	ENSG00000184349	ephrin A5	chr5:106712590-107006596	Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]	Lipids; Echocardiography; Pulse; Carotid Artery Diseases; Mental Disorders; Parkinson's disease ; Exercise Test; Heart Rate; C-Reactive Protein; Tobacco Use Disorder; Hippocampus; Blood Flow Velocity; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Hemoglobin A, Glycosylated; hippocampal atrophy	Homozygotes for targeted null mutations exhibit abnormalities in establishing correct axonal connections involving the retinal, motor, vomeronasal, and tactile axons to their respective targets. Some mutants develop neural tube defects.	EPH-ephrin mediated repulsion of cells	GO:0001934;positive regulation of protein phosphorylation;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022604;regulation of cell morphogenesis;IDA|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048668;collateral sprouting;IEA|GO:0048672;positive regulation of collateral sprouting;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050919;negative chemotaxis;IEA|GO:0051893;regulation of focal adhesion assembly;IDA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0070507;regulation of microtubule cytoskeleton organization;IDA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IEA|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:1904322;cellular response to forskolin;IEA	GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IEA|GO:0005912;adherens junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;IDA|GO:0071944;cell periphery;IEA	GO:0005168;neurotrophin TRKA receptor binding;NAS|GO:0005169;neurotrophin TRKB receptor binding;NAS|GO:0005170;neurotrophin TRKC receptor binding;NAS|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0045499;chemorepellent activity;IEA|GO:0046875;ephrin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EFNA5			https://www.ncbi.nlm.nih.gov/omim/?term=601535	http://www.informatics.jax.org/searchtool/Search.do?query=EFNA5&submit=Quick%0D%15187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFNA5	rs78458639	0.0646965	0	0	1	0	0	intronic	intronic	intronic	EFNA5	EFNA5	ENSG00000184349	Na	Na	Na	Na	Na	Na	Het;A>T	41;6|4	Hom;A>T	348;0|13
N	N	-	5	107062179	107062179	C	G	snp	ncRNA_exonic	 	 	 	 	AC024587.1																		rs186508880	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	EFNA5(dist=55583),FBXL17(dist=132555)	EFNA5(dist=55583),Metazoa_SRP(dist=8293)	ENSG00000248827	Na	Na	Na	Na	Na	Na	Het;C>G	819;11|36	Hom;C>G	1377;0|52
N	N	-	5	107197420	107197420	G	A	snp	UTR3	*1C>T	 	 	 	FBXL17	Fbxl17	ENSG00000145743	F-box and leucine rich repeat protein 17	chr5:107194736-107717799	Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]	Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL	 					http://www.genecards.org/index.php?path=/Search/keyword/FBXL17	https://www.uniprot.org/uniprot/Q9UF56		https://www.ncbi.nlm.nih.gov/omim/?term=609083	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17	rs61749621	0.181909	0.2006	0.1871	1	0	0	UTR3	UTR3	UTR3	FBXL17(NM_001163315:c.*1C>T)	FBXL17(uc011cvc.2:c.*1C>T)	ENSG00000145743(ENST00000359660:c.*1C>T,ENST00000542267:c.*1C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1642;65|81	Hom;G>A	3367;1|127
N	N	-	5	107197502	107197502	G	A	snp	synonymous SNV	C2025T	T675T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FBXL17	Fbxl17	ENSG00000145743	F-box and leucine rich repeat protein 17	chr5:107194736-107717799	Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]	Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL	 					http://www.genecards.org/index.php?path=/Search/keyword/FBXL17	https://www.uniprot.org/uniprot/Q9UF56		https://www.ncbi.nlm.nih.gov/omim/?term=609083	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17	rs34990078	0.155351	0.1743	0.1780	1	0	0	exonic	exonic	exonic	FBXL17	FBXL17	ENSG00000145743	synonymous SNV	synonymous SNV	unknown	FBXL17:NM_001163315:exon9:c.C2025T:p.T675T,	FBXL17:uc011cvc.2:exon9:c.C2025T:p.T675T,	UNKNOWN	Het;G>A	2270;112|108	Hom;G>A	4610;2|178
N	N	-	5	107197710	107197710	G	A	snp	intronic	 	 	 	 	FBXL17	Fbxl17	ENSG00000145743	F-box and leucine rich repeat protein 17	chr5:107194736-107717799	Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]	Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL	 					http://www.genecards.org/index.php?path=/Search/keyword/FBXL17	https://www.uniprot.org/uniprot/Q9UF56		https://www.ncbi.nlm.nih.gov/omim/?term=609083	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17	rs78569848	0.157947	0	0	1	0	0	intronic	intronic	intronic	FBXL17	FBXL17	ENSG00000145743	Na	Na	Na	Na	Na	Na	Het;G>A	189;9|8	Hom;G>A	951;0|31
N	N	-	5	10748462	10748462	C	T	snp	intronic	 	 	 	 	DAP	Dap	ENSG00000112977	death associated protein	chr5:10679342-10761384	This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]	Colitis, Ulcerative; Schizophrenia; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IGI|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0010507;negative regulation of autophagy;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0034198;cellular response to amino acid starvation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0097190;apoptotic signaling pathway;IMP		GO:0070513;death domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DAP	https://www.uniprot.org/uniprot/P51397		https://www.ncbi.nlm.nih.gov/omim/?term=600954	http://www.informatics.jax.org/searchtool/Search.do?query=DAP&submit=Quick%0D%4308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAP	rs267943	0.846645	0	0	1	0	0	intronic	intronic	intronic	DAP	DAP	ENSG00000112977	Na	Na	Na	Na	Na	Na	Het;C>T	334;1|12	Hom;C>T	242;0|8
N	N	-	5	107867558	107867558	C	T	snp	intergenic	 	 	 	 	FBXL17	Fbxl17	ENSG00000145743	F-box and leucine rich repeat protein 17	chr5:107194736-107717799	Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]	Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL	 					http://www.genecards.org/index.php?path=/Search/keyword/FBXL17	https://www.uniprot.org/uniprot/Q9UF56		https://www.ncbi.nlm.nih.gov/omim/?term=609083	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17	rs7446237	0.753195	0	0	1	0	0	intergenic	intergenic	intergenic	FBXL17(dist=149759),LINC01023(dist=195968)	FBXL17(dist=149759),HP07349(dist=195968)	ENSG00000145743(dist=149759),ENSG00000244245(dist=61752)	Na	Na	Na	Na	Na	Na	Het;C>T	94;3|4	Hom;C>T	535;0|17
N	N	-	5	109220429	109220429	G	A	snp	synonymous SNV	G207A	E69E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LOC100289673																		rs34826583	0.247404	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC100289673	LOC100289673	ENSG00000253224	Na	synonymous SNV	Na	Na	LOC100289673:uc021ycf.2:exon3:c.G207A:p.E69E,	Na	Het;G>A	1599;87|78	Hom;G>A	4344;1|164
N	N	-	5	109220640	109220640	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100289673																		rs34709715	0	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC100289673	LOC100289673(uc021ycf.2:c.*91A>G)	ENSG00000253224	Na	Na	Na	Na	Na	Na	Het;A>G	929;75|44	Hom;A>G	2117;4|76
N	N	-	5	109220667	109220667	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100289673																		rs13167277	0.256989	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC100289673	LOC100289673(uc021ycf.2:c.*118C>T)	ENSG00000253224	Na	Na	Na	Na	Na	Na	Het;C>T	1062;89|48	Hom;C>T	2653;2|95
N	N	-	5	109220684	109220684	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100289673																		rs35925079	0.310104	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC100289673	LOC100289673(uc021ycf.2:c.*135A>G)	ENSG00000253224	Na	Na	Na	Na	Na	Na	Het;A>G	1229;101|57	Hom;A>G	2804;2|105
N	N	-	5	109220991	109220991	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100289673																		rs13360436	0.580671	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC100289673	LOC100289673(uc021ycf.2:c.*442C>T)	ENSG00000253224	Na	Na	Na	Na	Na	Na	Het;C>T	1940;87|90	Hom;C>T	4528;0|168
N	N	-	5	109221184	109221184	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100289673																		rs13360461	0.552516	0	0	1	0	0	ncRNA_exonic	UTR3	upstream;downstream	LOC100289673	LOC100289673(uc021ycf.2:c.*635C>T)	ENSG00000253224;ENSG00000254106	Na	Na	Na	Na	Na	Na	Het;C>T	651;33|31	Hom;C>T	1582;2|61
N	N	-	5	109221247	109221247	G	T	snp	upstream;downstream	 	 	 	 	ENSG00000253224																		rs6863016	0	0	0	1	0	0	downstream	downstream	upstream;downstream	LOC100289673	LOC100289673	ENSG00000253224;ENSG00000254106	Na	Na	Na	Na	Na	Na	Het;G>T	189;7|7	Hom;G>T	360;1|15
N	N	-	5	109471212	109471212	G	A	snp	intergenic	 	 	 	 	PGAM5P1																		rs6872425	0.700879	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100289673(dist=250012),TMEM232(dist=283986)	LOC100289673(dist=250012),NONE(dist=NONE)	ENSG00000253224(dist=250088),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	286;8|15	Hom;G>A	170;0|8
N	N	-	5	110898390	110898390	A	G	snp	ncRNA_intronic	 	 	 	 	STARD4-AS1																		rs518235	0.384984	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	STARD4-AS1	STARD4-AS1	ENSG00000246859	Na	Na	Na	Na	Na	Na	Het;A>G	46;2|3	Hom;A>G	532;0|19
N	N	-	5	112064337	112064338	GT	G	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs397999014	0.546126	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;-T	1224;72|69	Hom;-T	3346;9|146
N	N	-	5	112074269	112074269	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2019720	0.435903	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	477;25|19	Hom;A>G	1447;0|53
N	N	-	5	112074356	112074356	C	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2020383	0.601438	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>T	594;33|29	Hom;C>T	1897;0|67
N	N	-	5	112074722	112074722	C	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs1974786	0.436502	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>G	251;28|12	Hom;C>G	936;0|32
N	N	-	5	112077447	112077447	T	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs4705608	0.430911	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>A	272;11|14	Hom;T>A	880;0|33
N	N	-	5	112077920	112077920	G	C	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs4705610	0	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>C	757;43|34	Hom;G>C	1821;0|66
N	N	-	5	112079117	112079118	AT	A	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs11341302	0.584265	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;-T	2530;79|121	Hom;-T	4868;2|188
N	N	-	5	112079882	112079882	T	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs10071425	0.436502	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>G	54;16|6	Hom;T>G	466;0|16
N	N	-	5	112080827	112080827	G	GTA	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs10692763	0.602436	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;+TA	290;17|9	Hom;+TA	2573;0|58
N	N	-	5	112081924	112081924	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs6594646	0.436502	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	249;5|11	Hom;A>G	346;0|13
N	N	-	5	112082938	112082938	A	AG	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs397792774	0.626797	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;+G	509;29|23	Hom;+G	1231;0|41
N	N	-	5	112085611	112085611	T	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs28373740	0.436901	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>G	1032;53|63	Hom;T>G	2453;11|119
N	N	-	5	112086165	112086165	T	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs12518091	0.435503	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>A	828;55|41	Hom;T>A	2036;1|77
N	N	-	5	112086185	112086185	A	ATGTT	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs142386207	0.433307	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;+TGTT	1955;71|53	Hom;+TGTT	3552;1|84
N	N	-	5	112087327	112087327	T	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs11954856	0.619409	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>G	617;59|35	Hom;T>G	2162;0|86
N	N	-	5	112089282	112089282	T	C	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs11241183	0	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>C	565;31|24	Hom;T>C	1626;0|57
N	N	-	5	112091704	112091704	C	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs4099181	0.604832	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>G	1047;70|55	Hom;C>G	2700;0|97
N	N	-	5	112094010	112094017	GTTTGTTT	G	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs67638832	0.438299	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;-TTTGTTT	582;18|16	Hom;-TTTGTTT	1929;0|45
N	N	-	5	112095775	112095775	T	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs4705624	0.433706	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>A	469;30|25	Hom;T>A	1315;0|51
N	N	-	5	112097234	112097234	G	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs28578275	0.43111	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>A	307;9|15	Hom;G>A	218;0|7
N	N	-	5	112098938	112098938	T	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs9647582	0.437899	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>A	189;23|11	Hom;T>A	710;0|27
N	N	-	5	112099028	112099028	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs9647583	0.437101	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	284;42|18	Hom;A>G	1274;0|44
N	N	-	5	112100027	112100027	G	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs6867243	0.621006	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>A	195;33|14	Hom;G>A	1274;0|53
N	N	-	5	112101457	112101457	G	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs12659119	0.542931	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>T	148;12|9	Hom;G>T	809;0|31
N	N	-	5	112105217	112105218	TG	T	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs71593230	0.431709	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;-G	341;14|10	Hom;-G	1266;0|29
N	N	-	5	112105223	112105223	A	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs77552656	0.432907	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>T	350;14|10	Hom;A>T	1275;0|29
N	N	-	5	112107058	112107058	G	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs11241185	0.434904	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>A	978;54|50	Hom;G>A	2857;1|114
N	N	-	5	112107726	112107726	C	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2439589	0.432508	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>T	799;43|40	Hom;C>T	1838;0|72
N	N	-	5	112108865	112108865	T	C	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2707763	0.455871	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>C	314;14|17	Hom;T>C	1088;2|41
N	N	-	5	112109779	112109779	G	C	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs1816769	0.631789	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>C	339;30|17	Hom;G>C	783;0|32
N	N	-	5	112111866	112111866	G	C	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs458906	0.431909	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>C	734;37|36	Hom;G>C	1631;0|59
N	N	-	5	112113527	112113527	A	T	snp	ncRNA_exonic	 	 	 	 	CBX3P3																		rs467033	0.438099	0	0	1	0	0	intronic	intronic	ncRNA_exonic	APC	APC	ENSG00000250045	Na	Na	Na	Na	Na	Na	Het;A>T	458;34|24	Hom;A>T	1423;0|53
N	N	-	5	112113735	112113735	C	T	snp	ncRNA_exonic	 	 	 	 	CBX3P3																		rs396321	0.445487	0	0	1	0	0	intronic	intronic	ncRNA_exonic	APC	APC	ENSG00000250045	Na	Na	Na	Na	Na	Na	Het;C>T	123;22|10	Hom;C>T	512;0|12
N	N	-	5	112116024	112116024	C	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs62364017	0.52496	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>T	123;4|7	Hom;C>T	269;0|12
N	N	-	5	112116773	112116773	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2289484	0.452077	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	320;32|18	Hom;A>G	1230;0|45
N	N	-	5	112118195	112118195	G	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2431242	0.617212	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>A	1172;50|53	Hom;G>A	3617;0|138
N	N	-	5	112118956	112118956	C	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2431512	0.433506	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>T	1246;48|58	Hom;C>T	2409;0|95
N	N	-	5	112131288	112131288	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2431514	0.466653	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	700;22|31	Hom;A>G	1137;0|42
N	N	-	5	112131787	112131787	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2464803	0.44988	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	147;26|10	Hom;A>G	840;0|31
N	N	-	5	112135090	112135090	G	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs518013	0.443091	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;G>A	903;33|39	Hom;G>A	1965;0|71
N	N	-	5	112135737	112135737	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2251913	0.438898	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	706;53|34	Hom;A>G	2222;0|80
N	N	-	5	112136204	112136204	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs511906	0.438898	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	455;36|25	Hom;A>G	1640;0|58
N	N	-	5	112139745	112139745	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2545158	0.438099	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	218;23|11	Hom;A>G	1047;0|36
N	N	-	5	112144023	112144023	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2431241	0.441893	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	1042;43|51	Hom;A>G	2955;0|108
N	N	-	5	112144444	112144444	A	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs1914	0.434904	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>T	1236;47|58	Hom;A>T	2743;2|107
N	N	-	5	112145261	112145261	C	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2546106	0.432308	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>A	166;19|9	Hom;C>A	822;0|31
N	N	-	5	112146197	112146197	T	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs390092	0.436102	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;T>G	769;25|38	Hom;T>G	2555;2|91
N	N	-	5	112146720	112146722	TCA	T	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs574202684	0.596645	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;-CA	273;8|10	Hom;-CA	420;0|13
N	N	-	5	112159470	112159470	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2546107	0.435703	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;A>G	520;53|31	Hom;A>G	2647;1|99
N	N	-	5	112160442	112160463	CTCATTAGTATACCAGGCCAAG	C	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs11274627	0.623802	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;-TCATTAGTATACCAGGCCAAG	470;42|16	Hom;-TCATTAGTATACCAGGCCAAG	1228;0|28
N	N	-	5	112161469	112161469	C	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2546108	0.438099	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982	Na	Na	Na	Na	Na	Na	Het;C>A	437;39|26	Hom;C>A	2002;1|78
N	N	-	5	112164862	112164862	G	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs351772	0.439896	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;G>A	421;22|21	Hom;G>A	894;0|31
N	N	-	5	112166044	112166047	AACT	A	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs34481414	0.619808	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;-ACT	167;2|5	Hom;-ACT	503;0|12
N	N	-	5	112166862	112166862	G	A	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2253987	0.432109	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;G>A	112;4|6	Hom;G>A	223;0|9
N	N	-	5	112167130	112167130	T	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs544243	0.690096	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;T>G	684;31|34	Hom;T>G	1746;0|69
N	N	-	5	112167587	112167587	T	C	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs548710	0.433906	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;T>C	1298;61|65	Hom;T>C	2240;0|85
N	N	-	5	112167821	112167821	C	T	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs569940	0.620008	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;C>T	246;38|14	Hom;C>T	1190;0|41
N	N	-	5	112167941	112167941	C	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2909958	0.620607	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;C>G	900;40|40	Hom;C>G	2059;0|77
N	N	-	5	112168065	112168065	A	G	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2909786	0.620208	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;A>G	408;44|22	Hom;A>G	1582;0|54
N	N	-	5	112168130	112168130	G	C	snp	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs2909787	0.620008	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;G>C	232;26|14	Hom;G>C	1143;0|42
N	N	-	5	112168726	112168727	GT	G	indel	intronic	 	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs35025567	0.612021	0	0	1	0	0	intronic	intronic	intronic	APC	APC	ENSG00000134982,ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;-T	887;41|55	Hom;-T	1849;11|93
N	N	-	5	112180921	112180921	T	C	snp	UTR3	*1098T>C	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs41116	0.436901	0	0	1	0	0	UTR3	UTR3	UTR3	APC(NM_001127511:c.*1098T>C,NM_001127510:c.*1098T>C,NM_000038:c.*1098T>C)	APC(uc011cvt.2:c.*1098T>C,uc003kpz.4:c.*1098T>C,uc003kpy.4:c.*1098T>C,uc010jbz.3:c.*1098T>C,uc010jca.3:c.*1098T>C)	ENSG00000134982(ENST00000457016:c.*1098T>C,ENST00000257430:c.*1098T>C,ENST00000508376:c.*1098T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	767;27|32	Hom;T>C	1286;0|44
N	N	-	5	112181379	112181379	C	G	snp	UTR3	*1556C>G	 	 	 	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs448475	0.441893	0	0	1	0	0	UTR3	UTR3	UTR3	APC(NM_001127511:c.*1556C>G,NM_001127510:c.*1556C>G,NM_000038:c.*1556C>G)	APC(uc011cvt.2:c.*1556C>G,uc003kpz.4:c.*1556C>G,uc003kpy.4:c.*1556C>G,uc010jbz.3:c.*1556C>G,uc010jca.3:c.*1556C>G)	ENSG00000134982(ENST00000457016:c.*1556C>G,ENST00000257430:c.*1556C>G,ENST00000508376:c.*1556C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	553;30|29	Hom;C>G	1186;0|45
N	N	-	5	112184490	112184490	T	C	snp	intronic	 	 	 	 	AC008575.1																		rs2545155	0.462859	0	0	1	0	0	intergenic	intergenic	intronic	APC(dist=2554),SRP19(dist=12395)	APC(dist=2554),SRP19(dist=12395)	ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;T>C	152;6|6	Hom;T>C	361;0|11
N	N	-	5	112185513	112185513	A	C	snp	intronic	 	 	 	 	AC008575.1																		rs566419	0.446286	0	0	1	0	0	intergenic	intergenic	intronic	APC(dist=3577),SRP19(dist=11372)	APC(dist=3577),SRP19(dist=11372)	ENSG00000258864	Na	Na	Na	Na	Na	Na	Het;A>C	554;27|23	Hom;A>C	1983;0|71
N	N	-	5	112196949	112196949	A	C	snp	UTR5	-125A>C	 	 	 	SRP19	Srp19	ENSG00000153037	signal recognition particle 19	chr5:112196919-112205485		Stroke	 	SRP-dependent cotranslational protein targeting to membrane	GO:0006613;cotranslational protein targeting to membrane;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0006616;SRP-dependent cotranslational protein targeting to membrane, translocation;IBA|GO:0006617;SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;IBA|GO:0042493;response to drug;IDA	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;TAS|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0048500;signal recognition particle;IDA	GO:0003723;RNA binding;IDA|GO:0008312;7S RNA binding;IDA|GO:0043022;ribosome binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SRP19	https://www.uniprot.org/uniprot/P09132		https://www.ncbi.nlm.nih.gov/omim/?term=182175	http://www.informatics.jax.org/searchtool/Search.do?query=SRP19&submit=Quick%0D%9619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP19	rs460137	0.471246	0	0	1	0	0	UTR5	UTR5	UTR5	SRP19(NM_003135:c.-125A>C,NM_001204193:c.-125A>C,NM_001204196:c.-125A>C,NM_001204199:c.-125A>C,NM_001204194:c.-125A>C)	SRP19(uc003kqc.3:c.-125A>C,uc021yck.1:c.-125A>C,uc003kqb.2:c.-125A>C,uc021ycl.1:c.-125A>C,uc011cvu.2:c.-125A>C)	ENSG00000153037(ENST00000505459:c.-125A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	152;1|5	Hom;A>C	510;0|13
N	N	-	5	113079021	113079021	T	C	snp	intergenic	 	 	 	 	YTHDC2	Ythdc2	ENSG00000047188	YTH domain containing 2	chr5:112849380-112930982	This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]	Hip; Lipoproteins; HIV Infections|[X]Human immunodeficiency virus disease; Death, Sudden, Cardiac; Erythrocyte Count; Body Height; Body Weights and Measures; Triglycerides; Hemoglobins; Anemia, Sickle Cell	Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads.		GO:0006396;RNA processing;IBA|GO:0034612;response to tumor necrosis factor;IDA|GO:0044829;positive regulation by host of viral genome replication;IMP|GO:0070555;response to interleukin-1;IDA	GO:0005783;endoplasmic reticulum;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0070063;RNA polymerase binding;IPI|GO:1990247;N6-methyladenosine-containing RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/YTHDC2	https://www.uniprot.org/uniprot/Q9H6S0		https://www.ncbi.nlm.nih.gov/omim/?term=616530	http://www.informatics.jax.org/searchtool/Search.do?query=YTHDC2&submit=Quick%0D%862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YTHDC2	rs56284987	0.2498	0	0	1	0	0	intergenic	intergenic	intergenic	YTHDC2(dist=148037),KCNN2(dist=618995)	YTHDC2(dist=148037),7SK(dist=510189)	ENSG00000047188(dist=148040),ENSG00000251628(dist=312682)	Na	Na	Na	Na	Na	Na	Het;T>C	678;32|32	Hom;T>C	1548;0|52
N	N	-	5	113079051	113079051	T	TA	indel	intergenic	 	 	 	 	YTHDC2	Ythdc2	ENSG00000047188	YTH domain containing 2	chr5:112849380-112930982	This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]	Hip; Lipoproteins; HIV Infections|[X]Human immunodeficiency virus disease; Death, Sudden, Cardiac; Erythrocyte Count; Body Height; Body Weights and Measures; Triglycerides; Hemoglobins; Anemia, Sickle Cell	Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads.		GO:0006396;RNA processing;IBA|GO:0034612;response to tumor necrosis factor;IDA|GO:0044829;positive regulation by host of viral genome replication;IMP|GO:0070555;response to interleukin-1;IDA	GO:0005783;endoplasmic reticulum;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0070063;RNA polymerase binding;IPI|GO:1990247;N6-methyladenosine-containing RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/YTHDC2	https://www.uniprot.org/uniprot/Q9H6S0		https://www.ncbi.nlm.nih.gov/omim/?term=616530	http://www.informatics.jax.org/searchtool/Search.do?query=YTHDC2&submit=Quick%0D%862ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YTHDC2	rs56405218	0.2498	0	0	1	0	0	intergenic	intergenic	intergenic	YTHDC2(dist=148067),KCNN2(dist=618965)	YTHDC2(dist=148067),7SK(dist=510159)	ENSG00000047188(dist=148070),ENSG00000251628(dist=312652)	Na	Na	Na	Na	Na	Na	Het;+A	887;43|41	Hom;+A	2492;0|87
N	N	-	5	113427276	113427276	A	G	snp	intergenic	 	 	 	 	AC106789.1																		rs901578	0.558107	0	0	1	0	0	intergenic	intergenic	intergenic	YTHDC2(dist=496292),KCNN2(dist=270740)	YTHDC2(dist=496292),7SK(dist=161934)	ENSG00000251628(dist=34405),ENSG00000222706(dist=161934)	Na	Na	Na	Na	Na	Na	Het;A>G	51;1|3	Hom;A>G	245;0|10
N	N	-	5	115394626	115394626	G	A	snp	synonymous SNV	G441A	P147P	hydrophobic,neutral	hydrophobic,neutral	ARL14EPL	Arl14epl	ENSG00000268714	ADP ribosylation factor like GTPase 14 effector protein like	chr5:115387163-115395815			 					http://www.genecards.org/index.php?path=/Search/keyword/ARL14EPL				http://www.informatics.jax.org/searchtool/Search.do?query=ARL14EPL&submit=Quick%0D%20723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL14EPL	rs6880759	0.676318	0	0.7059	1	0	0	exonic	exonic	exonic	ARL14EPL	ARL14EPL	ENSG00000268223	synonymous SNV	synonymous SNV	unknown	ARL14EPL:NM_001195581:exon3:c.G441A:p.P147P,	ARL14EPL:uc021yct.1:exon3:c.G441A:p.P147P,	UNKNOWN	Het;G>A	733;64|38	Hom;G>A	2114;0|77
N	N	-	5	115831305	115831305	G	A	snp	ncRNA_exonic	 	 	 	 	SEMA6A-AS1																		rs32973	0.577476	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SEMA6A	SEMA6A	ENSG00000248445	Na	Na	Na	Na	Na	Na	Het;G>A	695;27|30	Hom;G>A	1603;1|59
N	N	-	5	116098004	116098004	T	C	snp	upstream	 	 	 	 	LOC102467223																		rs2933639	0.570687	0	0	1	0	0	upstream	intergenic	upstream	LOC102467223	Mir_633(dist=77555),LOC728342(dist=653204)	ENSG00000251311	Na	Na	Na	Na	Na	Na	Het;T>C	92;4|4	Hom;T>C	96;0|4
N	N	-	5	117201199	117201202	TCAC	T	indel	ncRNA_intronic	 	 	 	 	LOC102467224																		rs140086511	0.891773	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC102467224	LOC728342(dist=285760),BC044609(dist=417067)	ENSG00000249582(dist=85972),ENSG00000249797(dist=59501)	Na	Na	Na	Na	Na	Na	Het;-CAC	32;5|2	Hom;-CAC	177;0|6
N	N	-	5	117309374	117309374	C	T	snp	ncRNA_intronic	 	 	 	 	LOC102467224																		rs35466566	0.153355	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102467224	LOC728342(dist=393935),BC044609(dist=308895)	ENSG00000249797	Na	Na	Na	Na	Na	Na	Het;C>T	76;7|4	Hom;C>T	222;0|6
N	N	-	5	117309391	117309391	G	T	snp	ncRNA_intronic	 	 	 	 	LOC102467224																		rs10059968	0.690695	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102467224	LOC728342(dist=393952),BC044609(dist=308878)	ENSG00000249797	Na	Na	Na	Na	Na	Na	Het;G>T	75;5|2	Hom;G>T	197;0|5
N	N	-	5	117949865	117949865	A	G	snp	ncRNA_intronic	 	 	 	 	LOC102467225																		rs6595150	0.705272	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102467225	BC044609(dist=329403),DTWD2(dist=222704)	ENSG00000249128	Na	Na	Na	Na	Na	Na	Het;A>G	57;4|3	Hom;A>G	186;0|5
N	N	-	5	119016190	119016190	A	T	snp	ncRNA_exonic	 	 	 	 	AC008550.1																		rs1972629	0.390775	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FAM170A(dist=44673),PRR16(dist=783783)	FAM170A(dist=44673),U6(dist=657054)	ENSG00000234259	Na	Na	Na	Na	Na	Na	Het;A>T	379;7|17	Hom;A>T	1003;0|38
N	N	-	5	119016981	119016981	G	A	snp	downstream	 	 	 	 	AC008550.1																		rs12153752	0.388978	0	0	1	0	0	intergenic	intergenic	downstream	FAM170A(dist=45464),PRR16(dist=782992)	FAM170A(dist=45464),U6(dist=656263)	ENSG00000234259	Na	Na	Na	Na	Na	Na	Het;G>A	570;32|27	Hom;G>A	1210;0|42
N	N	-	5	119017243	119017243	C	G	snp	downstream	 	 	 	 	AC008550.1																		rs13152919	0.310503	0	0	1	0	0	intergenic	intergenic	downstream	FAM170A(dist=45726),PRR16(dist=782730)	FAM170A(dist=45726),U6(dist=656001)	ENSG00000234259	Na	Na	Na	Na	Na	Na	Het;C>G	185;17|9	Hom;C>G	717;0|21
N	N	-	5	119017437	119017437	G	A	snp	downstream	 	 	 	 	AC008550.1																		rs13153472	0.310503	0	0	1	0	0	intergenic	intergenic	downstream	FAM170A(dist=45920),PRR16(dist=782536)	FAM170A(dist=45920),U6(dist=655807)	ENSG00000234259	Na	Na	Na	Na	Na	Na	Het;G>A	583;51|31	Hom;G>A	1681;0|65
N	N	-	5	119017509	119017509	C	T	snp	downstream	 	 	 	 	AC008550.1																		rs13153368	0.389776	0	0	1	0	0	intergenic	intergenic	downstream	FAM170A(dist=45992),PRR16(dist=782464)	FAM170A(dist=45992),U6(dist=655735)	ENSG00000234259	Na	Na	Na	Na	Na	Na	Het;C>T	268;31|16	Hom;C>T	984;0|35
N	N	-	5	119170803	119170803	A	C	snp	intergenic	 	 	 	 	AC008550.1																		rs35332060	0.3752	0	0	1	0	0	intergenic	intergenic	intergenic	FAM170A(dist=199286),PRR16(dist=629170)	FAM170A(dist=199286),U6(dist=502441)	ENSG00000234259(dist=154028),ENSG00000251293(dist=410340)	Na	Na	Na	Na	Na	Na	Het;A>C	149;2|7	Hom;A>C	381;0|14
N	N	-	5	119900198	119900199	GA	G	indel	intronic	 	 	 	 	PRR16	Prr16	ENSG00000184838	proline rich 16	chr5:119799973-120023027		Tobacco Use Disorder; Bone Density; Body Mass Index; Alcoholism; Triglycerides; Hemoglobin A, Glycosylated; Glucose	 		GO:0045727;positive regulation of translation;IDA|GO:0045793;positive regulation of cell size;IDA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRR16			https://www.ncbi.nlm.nih.gov/omim/?term=615931	http://www.informatics.jax.org/searchtool/Search.do?query=PRR16&submit=Quick%0D%15280ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR16	rs34960483	0.367812	0	0	1	0	0	intronic	intronic	intronic	PRR16	PRR16	ENSG00000184838	Na	Na	Na	Na	Na	Na	Het;-A	570;10|17	Hom;-A	1524;0|39
N	N	-	5	120408345	120408345	T	A	snp	intergenic	 	 	 	 	AC113352.1																		rs11950152	0.401358	0	0	1	0	0	intergenic	intergenic	intergenic	PRR16(dist=385320),LOC102467226(dist=249900)	PRR16(dist=385381),FTMT(dist=779305)	ENSG00000248853(dist=11697),ENSG00000250847(dist=123330)	Na	Na	Na	Na	Na	Na	Het;T>A	711;20|31	Hom;T>A	853;0|31
N	N	-	5	120408363	120408363	A	G	snp	intergenic	 	 	 	 	AC113352.1																		rs11953238	0.401358	0	0	1	0	0	intergenic	intergenic	intergenic	PRR16(dist=385338),LOC102467226(dist=249882)	PRR16(dist=385399),FTMT(dist=779287)	ENSG00000248853(dist=11715),ENSG00000250847(dist=123312)	Na	Na	Na	Na	Na	Na	Het;A>G	677;20|29	Hom;A>G	877;0|30
N	N	-	5	120408601	120408601	T	A	snp	intergenic	 	 	 	 	AC113352.1																		rs10055660	0.401358	0	0	1	0	0	intergenic	intergenic	intergenic	PRR16(dist=385576),LOC102467226(dist=249644)	PRR16(dist=385637),FTMT(dist=779049)	ENSG00000248853(dist=11953),ENSG00000250847(dist=123074)	Na	Na	Na	Na	Na	Na	Het;T>A	113;1|5	Hom;T>A	95;0|4
N	N	-	5	120659872	120659872	C	A	snp	ncRNA_intronic	 	 	 	 	LOC102467226																		rs1592894	0.66873	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102467226	PRR16(dist=636908),FTMT(dist=527778)	ENSG00000229855	Na	Na	Na	Na	Na	Na	Het;C>A	143;17|7	Hom;C>A	493;0|16
N	N	-	5	120661145	120661145	A	G	snp	ncRNA_exonic	 	 	 	 	LOC102467226																		rs9885432	0.187101	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102467226	PRR16(dist=638181),FTMT(dist=526505)	ENSG00000229855	Na	Na	Na	Na	Na	Na	Het;A>G	517;27|22	Hom;A>G	1951;0|67
N	N	-	5	120911360	120911360	T	C	snp	downstream	 	 	 	 	RPL23AP44																		rs4895320	0.728834	0	0	1	0	0	intergenic	intergenic	downstream	LOC102467226(dist=249828),FTMT(dist=276290)	PRR16(dist=888396),FTMT(dist=276290)	ENSG00000244088	Na	Na	Na	Na	Na	Na	Het;T>C	644;14|17	Hom;T>C	1111;0|25
N	N	-	5	120911366	120911366	G	T	snp	downstream	 	 	 	 	RPL23AP44																		rs4895321	0.659944	0	0	1	0	0	intergenic	intergenic	downstream	LOC102467226(dist=249834),FTMT(dist=276284)	PRR16(dist=888402),FTMT(dist=276284)	ENSG00000244088	Na	Na	Na	Na	Na	Na	Het;G>T	641;15|17	Hom;G>T	1111;0|26
N	N	-	5	122537051	122537051	A	G	snp	intergenic	 	 	 	 	PRDM6	Prdm6	ENSG00000061455	PR/SET domain 6	chr5:122424816-122529960		Adiponectin; Bone Density; Body Height; Tobacco Use Disorder; Aorta	Mice homozygous for a knock-out allele exhibit cardiovascular development defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0022008;neurogenesis;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051151;negative regulation of smooth muscle cell differentiation;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDM6	https://www.uniprot.org/uniprot/Q9NQX0	https://hpo.jax.org/app/browse/search?q=PRDM6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616982	http://www.informatics.jax.org/searchtool/Search.do?query=PRDM6&submit=Quick%0D%1074ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM6	rs56270251	0.239018	0	0	1	0	0	intergenic	intergenic	intergenic	PRDM6(dist=13306),CEP120(dist=143528)	PRDM6(dist=13306),CEP120(dist=143528)	ENSG00000061455(dist=7091),ENSG00000213655(dist=34722)	Na	Na	Na	Na	Na	Na	Het;A>G	232;4|7	Hom;A>G	514;0|13
N	N	-	5	122682154	122682154	T	G	snp	UTR3	*59A>C	 	 	 	CEP120	Cep120	ENSG00000168944	centrosomal protein 120	chr5:122680579-122759286	This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Magnesium; Aortic root size; Body Weight; Cardiovascular Diseases|Ventricular Dysfunction, Left	Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles.		GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007098;centrosome cycle;IEA|GO:0008283;cell proliferation;IEA|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0021987;cerebral cortex development;IEA|GO:0022008;neurogenesis;IEA|GO:0022027;interkinetic nuclear migration;IEA|GO:0030953;astral microtubule organization;IEA|GO:0032880;regulation of protein localization;IEA|GO:0032886;regulation of microtubule-based process;IEA|GO:0045724;positive regulation of cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP120		https://hpo.jax.org/app/browse/search?q=CEP120&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613446	http://www.informatics.jax.org/searchtool/Search.do?query=CEP120&submit=Quick%0D%12384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP120	rs2303719	0.653554	0	0	1	0	0	UTR3	UTR3	UTR3	CEP120(NM_001166226:c.*59A>C,NM_153223:c.*59A>C)	CEP120(uc003ktk.3:c.*59A>C,uc010jcz.2:c.*59A>C,uc011cwq.2:c.*59A>C)	ENSG00000168944(ENST00000306467:c.*59A>C,ENST00000306481:c.*59A>C,ENST00000328236:c.*59A>C,ENST00000508138:c.*2592A>C,ENST00000513565:c.*2424A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	311;11|12	Hom;T>G	694;0|21
N	N	-	5	122682348	122682348	A	G	snp	synonymous SNV	T2826C	D942D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CEP120	Cep120	ENSG00000168944	centrosomal protein 120	chr5:122680579-122759286	This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Magnesium; Aortic root size; Body Weight; Cardiovascular Diseases|Ventricular Dysfunction, Left	Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles.		GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007098;centrosome cycle;IEA|GO:0008283;cell proliferation;IEA|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0021987;cerebral cortex development;IEA|GO:0022008;neurogenesis;IEA|GO:0022027;interkinetic nuclear migration;IEA|GO:0030953;astral microtubule organization;IEA|GO:0032880;regulation of protein localization;IEA|GO:0032886;regulation of microtubule-based process;IEA|GO:0045724;positive regulation of cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CEP120		https://hpo.jax.org/app/browse/search?q=CEP120&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613446	http://www.informatics.jax.org/searchtool/Search.do?query=CEP120&submit=Quick%0D%12384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP120	rs1047438	0.682708	0.7296	0.6938	1	0	0	exonic	exonic	exonic	CEP120	CEP120	ENSG00000168944	synonymous SNV	synonymous SNV	unknown	CEP120:NM_153223:exon21:c.T2826C:p.D942D,CEP120:NM_001166226:exon20:c.T2748C:p.D916D,	CEP120:uc003ktk.3:exon21:c.T2826C:p.D942D,CEP120:uc010jcz.2:exon20:c.T2748C:p.D916D,CEP120:uc011cwq.2:exon23:c.T2253C:p.D751D,	UNKNOWN	Het;A>G	1389;83|66	Hom;A>G	4102;2|156
N	N	-	5	122909345	122909345	G	C	snp	intronic	 	 	 	 	CSNK1G3	Csnk1g3	ENSG00000151292	casein kinase 1 gamma 3	chr5:122847793-122952739	This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]	Amyotrophic lateral sclerosis	 		GO:0006464;cellular protein modification process;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006897;endocytosis;IBA|GO:0007165;signal transduction;TAS|GO:0008360;regulation of cell shape;IBA|GO:0016055;Wnt signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSNK1G3	https://www.uniprot.org/uniprot/Q9Y6M4		https://www.ncbi.nlm.nih.gov/omim/?term=604253	http://www.informatics.jax.org/searchtool/Search.do?query=CSNK1G3&submit=Quick%0D%9399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSNK1G3	rs7712330	0.555711	0	0	1	0	0	intronic	intronic	intronic	CSNK1G3	CSNK1G3	ENSG00000151292	Na	Na	Na	Na	Na	Na	Het;G>C	199;7|9	Hom;G>C	581;1|17
N	N	-	5	123050264	123050264	A	G	snp	intergenic	 	 	 	 	KRT18P16																		rs66517966	0.373802	0	0	1	0	0	intergenic	intergenic	intergenic	CSNK1G3(dist=97526),LINC01170(dist=345223)	CSNK1G3(dist=97526),ZNF608(dist=922346)	ENSG00000235275(dist=77167),ENSG00000250862(dist=506008)	Na	Na	Na	Na	Na	Na	Het;A>G	78;2|3	Hom;A>G	135;0|4
N	N	-	5	123983915	123983915	G	T	snp	nonsynonymous SNV	C2162A	T721N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF608	Zfp608	ENSG00000168916	zinc finger protein 608	chr5:123972608-124084500		Breath Tests; Heart Failure	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF608				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF608&submit=Quick%0D%12374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF608	rs6862252	0.629992	0.5589	0.5625	0.08	1	13	exonic	exonic	exonic	ZNF608	ZNF608	ENSG00000168916	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF608:NM_020747:exon4:c.C2162A:p.T721N,	ZNF608:uc003kts.1:exon5:c.C2162A:p.T721N,ZNF608:uc003ktt.1:exon5:c.C2162A:p.T721N,ZNF608:uc003ktq.1:exon4:c.C2162A:p.T721N,	UNKNOWN	Het;G>T	1670;53|73	Hom;G>T	3295;1|125
N	N	-	5	123984763	123984763	C	T	snp	synonymous SNV	G1314A	A438A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF608	Zfp608	ENSG00000168916	zinc finger protein 608	chr5:123972608-124084500		Breath Tests; Heart Failure	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF608				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF608&submit=Quick%0D%12374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF608	rs7708070	0.761182	0.7860	0.7449	1	0	0	exonic	exonic	exonic	ZNF608	ZNF608	ENSG00000168916	synonymous SNV	synonymous SNV	unknown	ZNF608:NM_020747:exon4:c.G1314A:p.A438A,	ZNF608:uc003kts.1:exon5:c.G1314A:p.A438A,ZNF608:uc003ktt.1:exon5:c.G1314A:p.A438A,ZNF608:uc003ktq.1:exon4:c.G1314A:p.A438A,	UNKNOWN	Het;C>T	1608;84|77	Hom;C>T	3161;0|118
N	N	-	5	123985484	123985484	C	CA	indel	intronic	 	 	 	 	ZNF608	Zfp608	ENSG00000168916	zinc finger protein 608	chr5:123972608-124084500		Breath Tests; Heart Failure	 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF608				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF608&submit=Quick%0D%12374ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF608	rs11422549	0.671725	0	0	1	0	0	intronic	intronic	intronic	ZNF608	ZNF608	ENSG00000168916	Na	Na	Na	Na	Na	Na	Het;+A	164;7|7	Hom;+A	171;0|6
N	N	-	5	1240848	1240848	A	C	snp	intronic	 	 	 	 	SLC6A18	Slc6a18	ENSG00000164363	solute carrier family 6 member 18	chr5:1225470-1246304	The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]	bladder cancer; Hypertension; blood pressure hypertension	Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine.	Na+/Cl- dependent neurotransmitter transporters	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A18			https://www.ncbi.nlm.nih.gov/omim/?term=610300	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A18&submit=Quick%0D%11291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A18	rs6554684	0.696086	0	0	1	0	0	intronic	intronic	intronic	SLC6A18	SLC6A18	ENSG00000164363	Na	Na	Na	Na	Na	Na	Het;A>C	264;6|10	Hom;A>C	246;0|10
N	N	-	5	1243009	1243009	A	G	snp	intronic	 	 	 	 	SLC6A18	Slc6a18	ENSG00000164363	solute carrier family 6 member 18	chr5:1225470-1246304	The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]	bladder cancer; Hypertension; blood pressure hypertension	Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine.	Na+/Cl- dependent neurotransmitter transporters	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A18			https://www.ncbi.nlm.nih.gov/omim/?term=610300	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A18&submit=Quick%0D%11291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A18	rs7721679	0.941094	0.9004	0.8938	1	0	0	intronic	intronic	intronic	SLC6A18	SLC6A18	ENSG00000164363	Na	Na	Na	Na	Na	Na	Het;A>G	703;46|35	Hom;A>G	2168;0|74
N	N	-	5	1244425	1244425	C	T	snp	nonsynonymous SNV	C1433T	P478L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC6A18	Slc6a18	ENSG00000164363	solute carrier family 6 member 18	chr5:1225470-1246304	The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]	bladder cancer; Hypertension; blood pressure hypertension	Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine.	Na+/Cl- dependent neurotransmitter transporters	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A18			https://www.ncbi.nlm.nih.gov/omim/?term=610300	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A18&submit=Quick%0D%11291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A18	rs4073918	0.676118	0.7976	0.7171	0.15	2	13	exonic	exonic	exonic	SLC6A18	SLC6A18	ENSG00000164363	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC6A18:NM_182632:exon10:c.C1433T:p.P478L,	SLC6A18:uc003jby.2:exon10:c.C1433T:p.P478L,	UNKNOWN	Het;C>T	279;52|20	Hom;C>T	1498;0|59
N	N	-	5	1245073	1245073	C	CCT	indel	intronic	 	 	 	 	SLC6A18	Slc6a18	ENSG00000164363	solute carrier family 6 member 18	chr5:1225470-1246304	The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]	bladder cancer; Hypertension; blood pressure hypertension	Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine.	Na+/Cl- dependent neurotransmitter transporters	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A18			https://www.ncbi.nlm.nih.gov/omim/?term=610300	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A18&submit=Quick%0D%11291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A18	rs10623391	0	0	0	1	0	0	intronic	intronic	intronic	SLC6A18	SLC6A18	ENSG00000164363	Na	Na	Na	Na	Na	Na	Het;+CT	83;2|3	Hom;+CT	54;0|2
N	N	-	5	125828803	125828803	A	G	snp	UTR3	*155A>G	 	 	 	GRAMD3	Gramd3	ENSG00000155324	GRAM domain containing 2B	chr5:125695824-125832186		Tobacco Use Disorder	 			GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRAMD3	https://www.uniprot.org/uniprot/Q96HH9			http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD3&submit=Quick%0D%9860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD3	rs4358517	0.816494	0	0	1	0	0	UTR3	UTR3	UTR3	GRAMD3(NM_001146319:c.*155A>G,NM_001146321:c.*155A>G,NM_023927:c.*155A>G,NM_001146320:c.*155A>G,NM_001146322:c.*155A>G)	GRAMD3(uc011cwt.2:c.*155A>G,uc003ktu.3:c.*155A>G,uc011cwv.2:c.*155A>G,uc011cww.2:c.*155A>G,uc011cwy.2:c.*155A>G,uc011cwz.2:c.*155A>G)	ENSG00000155324(ENST00000513040:c.*155A>G,ENST00000515200:c.*155A>G,ENST00000285689:c.*155A>G,ENST00000544396:c.*155A>G,ENST00000542322:c.*155A>G,ENST00000513978:c.*1233A>G,ENST00000514099:c.*1078A>G,ENST00000511134:c.*155A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	39;2|2	Hom;A>G	437;0|12
N	N	-	5	125850820	125850820	A	G	snp	intergenic	 	 	 	 	GRAMD3	Gramd3	ENSG00000155324	GRAM domain containing 2B	chr5:125695824-125832186		Tobacco Use Disorder	 			GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRAMD3	https://www.uniprot.org/uniprot/Q96HH9			http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD3&submit=Quick%0D%9860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD3	rs13157865	0.701478	0	0	1	0	0	intergenic	intergenic	intergenic	GRAMD3(dist=20967),ALDH7A1(dist=26713)	GRAMD3(dist=20967),ALDH7A1(dist=26713)	ENSG00000155324(dist=20757),ENSG00000164904(dist=26713)	Na	Na	Na	Na	Na	Na	Het;A>G	94;10|6	Hom;A>G	303;0|13
N	N	-	5	126626645	126626645	G	A	snp	UTR5	-40356G>A	 	 	 	MEGF10	Megf10	ENSG00000145794	multiple EGF like domains 10	chr5:126626523-126801429	This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]	Body Weights and Measures; Tobacco Use Disorder; Platelet Aggregation; schizophrenia; Erythrocyte Indices; Lipoproteins, VLDL; Endometriosis|; Body Height; Cholesterol, HDL; Hematocrit	Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells.		GO:0006898;receptor-mediated endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;IEA|GO:0014719;skeletal muscle satellite cell activation;ISS|GO:0014816;skeletal muscle satellite cell differentiation;IMP|GO:0014841;skeletal muscle satellite cell proliferation;ISS|GO:0034109;homotypic cell-cell adhesion;IDA|GO:0043652;engulfment of apoptotic cell;IEA|GO:0043654;recognition of apoptotic cell;IEA|GO:0048641;regulation of skeletal muscle tissue development;IMP|GO:0051147;regulation of muscle cell differentiation;IMP|GO:0055001;muscle cell development;IMP|GO:1902742;apoptotic process involved in development;IEA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0042995;cell projection;IEA	GO:0001849;complement component C1q binding;IDA|GO:0005044;scavenger receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MEGF10	https://www.uniprot.org/uniprot/Q96KG7	https://hpo.jax.org/app/browse/search?q=MEGF10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612453	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF10&submit=Quick%0D%8785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF10	rs2032834	0.340655	0	0	1	0	0	UTR5	UTR5	UTR5	MEGF10(NM_032446:c.-40356G>A,NM_001256545:c.-40356G>A)	MEGF10(uc010jdc.1:c.-40356G>A,uc010jdd.1:c.-40356G>A,uc003kuh.4:c.-40356G>A,uc003kui.4:c.-40356G>A)	ENSG00000145794(ENST00000503335:c.-40356G>A,ENST00000508365:c.-40356G>A,ENST00000418761:c.-40356G>A,ENST00000274473:c.-40356G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	399;32|21	Hom;G>A	1525;0|57
N	N	-	5	126635667	126635667	G	C	snp	intronic	 	 	 	 	MEGF10	Megf10	ENSG00000145794	multiple EGF like domains 10	chr5:126626523-126801429	This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]	Body Weights and Measures; Tobacco Use Disorder; Platelet Aggregation; schizophrenia; Erythrocyte Indices; Lipoproteins, VLDL; Endometriosis|; Body Height; Cholesterol, HDL; Hematocrit	Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells.		GO:0006898;receptor-mediated endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;IEA|GO:0014719;skeletal muscle satellite cell activation;ISS|GO:0014816;skeletal muscle satellite cell differentiation;IMP|GO:0014841;skeletal muscle satellite cell proliferation;ISS|GO:0034109;homotypic cell-cell adhesion;IDA|GO:0043652;engulfment of apoptotic cell;IEA|GO:0043654;recognition of apoptotic cell;IEA|GO:0048641;regulation of skeletal muscle tissue development;IMP|GO:0051147;regulation of muscle cell differentiation;IMP|GO:0055001;muscle cell development;IMP|GO:1902742;apoptotic process involved in development;IEA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0042995;cell projection;IEA	GO:0001849;complement component C1q binding;IDA|GO:0005044;scavenger receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MEGF10	https://www.uniprot.org/uniprot/Q96KG7	https://hpo.jax.org/app/browse/search?q=MEGF10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612453	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF10&submit=Quick%0D%8785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF10	rs1345662	0.426318	0	0	1	0	0	intronic	intronic	intronic	MEGF10	MEGF10	ENSG00000145794	Na	Na	Na	Na	Na	Na	Het;G>C	727;38|34	Hom;G>C	1837;1|68
N	N	-	5	126793219	126793219	C	G	snp	UTR3	*209C>G	 	 	 	MEGF10	Megf10	ENSG00000145794	multiple EGF like domains 10	chr5:126626523-126801429	This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]	Body Weights and Measures; Tobacco Use Disorder; Platelet Aggregation; schizophrenia; Erythrocyte Indices; Lipoproteins, VLDL; Endometriosis|; Body Height; Cholesterol, HDL; Hematocrit	Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells.		GO:0006898;receptor-mediated endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;IEA|GO:0014719;skeletal muscle satellite cell activation;ISS|GO:0014816;skeletal muscle satellite cell differentiation;IMP|GO:0014841;skeletal muscle satellite cell proliferation;ISS|GO:0034109;homotypic cell-cell adhesion;IDA|GO:0043652;engulfment of apoptotic cell;IEA|GO:0043654;recognition of apoptotic cell;IEA|GO:0048641;regulation of skeletal muscle tissue development;IMP|GO:0051147;regulation of muscle cell differentiation;IMP|GO:0055001;muscle cell development;IMP|GO:1902742;apoptotic process involved in development;IEA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0042995;cell projection;IEA	GO:0001849;complement component C1q binding;IDA|GO:0005044;scavenger receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MEGF10	https://www.uniprot.org/uniprot/Q96KG7	https://hpo.jax.org/app/browse/search?q=MEGF10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612453	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF10&submit=Quick%0D%8785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF10	rs10793809	0.641573	0	0	1	0	0	UTR3	UTR3	UTR3	MEGF10(NM_032446:c.*209C>G,NM_001256545:c.*209C>G)	MEGF10(uc003kuh.4:c.*209C>G,uc003kui.4:c.*209C>G)	ENSG00000145794(ENST00000503335:c.*209C>G,ENST00000274473:c.*209C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	582;21|27	Hom;C>G	1896;0|70
N	N	-	5	126795246	126795246	C	A	snp	UTR3	*2236C>A	 	 	 	MEGF10	Megf10	ENSG00000145794	multiple EGF like domains 10	chr5:126626523-126801429	This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]	Body Weights and Measures; Tobacco Use Disorder; Platelet Aggregation; schizophrenia; Erythrocyte Indices; Lipoproteins, VLDL; Endometriosis|; Body Height; Cholesterol, HDL; Hematocrit	Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells.		GO:0006898;receptor-mediated endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;IEA|GO:0014719;skeletal muscle satellite cell activation;ISS|GO:0014816;skeletal muscle satellite cell differentiation;IMP|GO:0014841;skeletal muscle satellite cell proliferation;ISS|GO:0034109;homotypic cell-cell adhesion;IDA|GO:0043652;engulfment of apoptotic cell;IEA|GO:0043654;recognition of apoptotic cell;IEA|GO:0048641;regulation of skeletal muscle tissue development;IMP|GO:0051147;regulation of muscle cell differentiation;IMP|GO:0055001;muscle cell development;IMP|GO:1902742;apoptotic process involved in development;IEA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0042995;cell projection;IEA	GO:0001849;complement component C1q binding;IDA|GO:0005044;scavenger receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MEGF10	https://www.uniprot.org/uniprot/Q96KG7	https://hpo.jax.org/app/browse/search?q=MEGF10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612453	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF10&submit=Quick%0D%8785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF10	rs3756722	0.639776	0	0	1	0	0	UTR3	UTR3	UTR3	MEGF10(NM_032446:c.*2236C>A,NM_001256545:c.*2236C>A)	MEGF10(uc003kuh.4:c.*2236C>A,uc003kui.4:c.*2236C>A)	ENSG00000145794(ENST00000503335:c.*2236C>A,ENST00000274473:c.*2236C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	158;7|9	Hom;C>A	220;0|8
N	N	-	5	126796585	126796585	T	G	snp	UTR3	*3575T>G	 	 	 	MEGF10	Megf10	ENSG00000145794	multiple EGF like domains 10	chr5:126626523-126801429	This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]	Body Weights and Measures; Tobacco Use Disorder; Platelet Aggregation; schizophrenia; Erythrocyte Indices; Lipoproteins, VLDL; Endometriosis|; Body Height; Cholesterol, HDL; Hematocrit	Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells.		GO:0006898;receptor-mediated endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;IEA|GO:0014719;skeletal muscle satellite cell activation;ISS|GO:0014816;skeletal muscle satellite cell differentiation;IMP|GO:0014841;skeletal muscle satellite cell proliferation;ISS|GO:0034109;homotypic cell-cell adhesion;IDA|GO:0043652;engulfment of apoptotic cell;IEA|GO:0043654;recognition of apoptotic cell;IEA|GO:0048641;regulation of skeletal muscle tissue development;IMP|GO:0051147;regulation of muscle cell differentiation;IMP|GO:0055001;muscle cell development;IMP|GO:1902742;apoptotic process involved in development;IEA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0042995;cell projection;IEA	GO:0001849;complement component C1q binding;IDA|GO:0005044;scavenger receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MEGF10	https://www.uniprot.org/uniprot/Q96KG7	https://hpo.jax.org/app/browse/search?q=MEGF10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612453	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF10&submit=Quick%0D%8785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF10	rs2898043	0.647165	0	0	1	0	0	UTR3	UTR3	UTR3	MEGF10(NM_032446:c.*3575T>G,NM_001256545:c.*3575T>G)	MEGF10(uc003kuh.4:c.*3575T>G,uc003kui.4:c.*3575T>G)	ENSG00000145794(ENST00000503335:c.*3575T>G,ENST00000274473:c.*3575T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	1043;58|46	Hom;T>G	3704;1|135
N	N	-	5	127090186	127090186	T	TAC	indel	ncRNA_intronic	 	 	 	 	CCDC192																		rs142509440	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CTXN3(dist=95864),LINC01184(dist=267058)	CTXN3(dist=95864),FLJ33630(dist=185946)	ENSG00000230561	Na	Na	Na	Na	Na	Na	Het;+AC	124;11|6	Hom;+AC	671;1|22
N	N	-	5	127120736	127120736	A	G	snp	ncRNA_exonic	 	 	 	 	CUL1P1																		rs11957799	0.329673	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CTXN3(dist=126414),LINC01184(dist=236508)	CTXN3(dist=126414),FLJ33630(dist=155396)	ENSG00000251032	Na	Na	Na	Na	Na	Na	Het;A>G	238;17|13	Hom;A>G	767;0|27
N	N	-	5	127120752	127120752	A	T	snp	ncRNA_exonic	 	 	 	 	CUL1P1																		rs1464132	0.808706	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CTXN3(dist=126430),LINC01184(dist=236492)	CTXN3(dist=126430),FLJ33630(dist=155380)	ENSG00000251032	Na	Na	Na	Na	Na	Na	Het;A>T	242;20|14	Hom;A>T	711;0|25
N	N	-	5	127122492	127122492	G	A	snp	ncRNA_exonic	 	 	 	 	CUL1P1																		rs11241942	0.307109	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CTXN3(dist=128170),LINC01184(dist=234752)	CTXN3(dist=128170),FLJ33630(dist=153640)	ENSG00000251032	Na	Na	Na	Na	Na	Na	Het;G>A	229;9|10	Hom;G>A	365;0|13
N	N	-	5	127648188	127648188	G	A	snp	intronic	 	 	 	 	FBN2	Fbn2	ENSG00000138829	fibrillin 2	chr5:127593601-127994878	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Life Expectancy; Diabetes Mellitus; Alcoholism; Coronary Artery Disease; obesity (extreme); Macular Degeneration; Myocardial Infarction; congenital contractural arachnodactyly; bronchodilator response; Body Height; Intracranial Aneurysm; brain aneurysm; Obesity; Body Weights and Measures; Creatinine	Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.	Molecules associated with elastic fibres	GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030501;positive regulation of bone mineralization;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;IEA|GO:0043010;camera-type eye development;IEP|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0048048;embryonic eye morphogenesis;IEP|GO:0060346;bone trabecula formation;IEA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC	http://www.genecards.org/index.php?path=/Search/keyword/FBN2	https://www.uniprot.org/uniprot/P35556	https://hpo.jax.org/app/browse/search?q=FBN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612570	http://www.informatics.jax.org/searchtool/Search.do?query=FBN2&submit=Quick%0D%7815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN2	rs461146	0.48762	0	0	1	0	0	intronic	intronic	intronic	FBN2	FBN2	ENSG00000138829	Na	Na	Na	Na	Na	Na	Het;G>A	178;5|7	Hom;G>A	178;0|6
N	N	-	5	127671924	127671924	A	G	snp	intronic	 	 	 	 	FBN2	Fbn2	ENSG00000138829	fibrillin 2	chr5:127593601-127994878	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Life Expectancy; Diabetes Mellitus; Alcoholism; Coronary Artery Disease; obesity (extreme); Macular Degeneration; Myocardial Infarction; congenital contractural arachnodactyly; bronchodilator response; Body Height; Intracranial Aneurysm; brain aneurysm; Obesity; Body Weights and Measures; Creatinine	Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.	Molecules associated with elastic fibres	GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030501;positive regulation of bone mineralization;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;IEA|GO:0043010;camera-type eye development;IEP|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0048048;embryonic eye morphogenesis;IEP|GO:0060346;bone trabecula formation;IEA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC	http://www.genecards.org/index.php?path=/Search/keyword/FBN2	https://www.uniprot.org/uniprot/P35556	https://hpo.jax.org/app/browse/search?q=FBN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612570	http://www.informatics.jax.org/searchtool/Search.do?query=FBN2&submit=Quick%0D%7815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN2	rs32221	0.541334	0	0	1	0	0	intronic	intronic	intronic	FBN2	FBN2	ENSG00000138829	Na	Na	Na	Na	Na	Na	Het;A>G	317;8|13	Hom;A>G	351;0|10
N	N	-	5	127685135	127685135	C	T	snp	nonsynonymous SNV	G2893A	V965I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FBN2	Fbn2	ENSG00000138829	fibrillin 2	chr5:127593601-127994878	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Life Expectancy; Diabetes Mellitus; Alcoholism; Coronary Artery Disease; obesity (extreme); Macular Degeneration; Myocardial Infarction; congenital contractural arachnodactyly; bronchodilator response; Body Height; Intracranial Aneurysm; brain aneurysm; Obesity; Body Weights and Measures; Creatinine	Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.	Molecules associated with elastic fibres	GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030501;positive regulation of bone mineralization;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;IEA|GO:0043010;camera-type eye development;IEP|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0048048;embryonic eye morphogenesis;IEP|GO:0060346;bone trabecula formation;IEA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC	http://www.genecards.org/index.php?path=/Search/keyword/FBN2	https://www.uniprot.org/uniprot/P35556	https://hpo.jax.org/app/browse/search?q=FBN2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612570	http://www.informatics.jax.org/searchtool/Search.do?query=FBN2&submit=Quick%0D%7815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN2	rs154001	0.73103	0.6622	0.7234	0.46	6	13	exonic	exonic	exonic	FBN2	FBN2	ENSG00000138829	nonsynonymous SNV	nonsynonymous SNV	unknown	FBN2:NM_001999:exon23:c.G2893A:p.V965I,	FBN2:uc003kuv.2:exon22:c.G2794A:p.V932I,FBN2:uc003kuu.3:exon23:c.G2893A:p.V965I,	UNKNOWN	Het;C>T	1779;79|86	Hom;C>T	3580;0|129
N	N	-	5	128359247	128359247	T	C	snp	intronic	 	 	 	 	SLC27A6	Slc27a6	ENSG00000113396	solute carrier family 27 member 6	chr5:127873706-128369335	This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	Respiratory Function Tests	 	Transport of fatty acids	GO:0000038;very long-chain fatty acid metabolic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008152;metabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0015909;long-chain fatty acid transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IEA|GO:0015245;fatty acid transporter activity;TAS|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC27A6	https://www.uniprot.org/uniprot/Q9Y2P4		https://www.ncbi.nlm.nih.gov/omim/?term=604196	http://www.informatics.jax.org/searchtool/Search.do?query=SLC27A6&submit=Quick%0D%4360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC27A6	rs31271	0.820288	0	0	1	0	0	intronic	intronic	intronic	SLC27A6	SLC27A6	ENSG00000113396	Na	Na	Na	Na	Na	Na	Het;T>C	60;11|4	Hom;T>C	357;0|11
N	N	-	5	128365489	128365489	A	G	snp	intronic	 	 	 	 	SLC27A6	Slc27a6	ENSG00000113396	solute carrier family 27 member 6	chr5:127873706-128369335	This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	Respiratory Function Tests	 	Transport of fatty acids	GO:0000038;very long-chain fatty acid metabolic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008152;metabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0015909;long-chain fatty acid transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IEA|GO:0015245;fatty acid transporter activity;TAS|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC27A6	https://www.uniprot.org/uniprot/Q9Y2P4		https://www.ncbi.nlm.nih.gov/omim/?term=604196	http://www.informatics.jax.org/searchtool/Search.do?query=SLC27A6&submit=Quick%0D%4360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC27A6	rs2289215	0.226038	0	0	1	0	0	intronic	intronic	intronic	SLC27A6	SLC27A6	ENSG00000113396	Na	Na	Na	Na	Na	Na	Het;A>G	471;13|18	Hom;A>G	560;0|16
N	N	-	5	128365537	128365537	G	A	snp	intronic	 	 	 	 	SLC27A6	Slc27a6	ENSG00000113396	solute carrier family 27 member 6	chr5:127873706-128369335	This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	Respiratory Function Tests	 	Transport of fatty acids	GO:0000038;very long-chain fatty acid metabolic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008152;metabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0015909;long-chain fatty acid transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IEA|GO:0015245;fatty acid transporter activity;TAS|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC27A6	https://www.uniprot.org/uniprot/Q9Y2P4		https://www.ncbi.nlm.nih.gov/omim/?term=604196	http://www.informatics.jax.org/searchtool/Search.do?query=SLC27A6&submit=Quick%0D%4360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC27A6	rs2289216	0.226038	0	0	1	0	0	intronic	intronic	intronic	SLC27A6	SLC27A6	ENSG00000113396	Na	Na	Na	Na	Na	Na	Het;G>A	55;6|3	Hom;G>A	154;0|5
N	N	-	5	128441119	128441119	T	C	snp	intronic	 	 	 	 	ISOC1	Isoc1	ENSG00000066583	isochorismatase domain containing 1	chr5:128430444-128449721		Fibrinogen; Body Composition; Albumins; Cholesterol	 		GO:0008150;biological_process;ND|GO:0008152;metabolic process;IEA	GO:0005737;cytoplasm;IBA|GO:0005777;peroxisome;ISS|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ISOC1	https://www.uniprot.org/uniprot/Q96CN7			http://www.informatics.jax.org/searchtool/Search.do?query=ISOC1&submit=Quick%0D%1225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISOC1	rs2287751	0.202276	0.2030	0.2098	1	0	0	intronic	intronic	intronic	ISOC1	ISOC1	ENSG00000066583	Na	Na	Na	Na	Na	Na	Het;T>C	1099;31|46	Hom;T>C	1139;0|41
N	N	-	5	1294086	1294086	C	T	snp	synonymous SNV	G915A	A305A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TERT	Tert	ENSG00000164362	telomerase reverse transcriptase	chr5:1253262-1295184	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]	Erythrocyte Count; Idiopathic pulmonary fibrosis; ovarian cancer; cervical intraepithelial neoplasia grade 3; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; prostate cancer; aplastic anaemia; Leukemia, Myeloid, Acute; lung cancer; Tobacco Use Disorder; Pancreatic Neoplasms; Asthma|Brain Neoplasms|Eczema|Glioma|Hay fever|Hypersensitivity|Rhinitis, Allergic, Seasonal; chronic obstructive pulmonary disease; bladder cancer; Lung Neoplasms; glioma; atherosclerosis, coronary; myocardial infarct; Testicular Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Bone Marrow Diseases|Syndrome; Glioblastoma|Meningeal Neoplasms|Meningioma; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Prostatic Neoplasms; brain cancer; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Coronary Artery Disease|Melanoma|Skin Neoplasms; Pulmonary Fibrosis; Idiopathic Pulmonary Fibrosis; lung adenocarcinoma; Endometrial Neoplasms; breast cancer ; Bone Marrow Diseases|Dyskeratosis Congenita; Cardiovascular Diseases|Cerebrovascular Disorders; lung cancer ; Neoplasms, Germ Cell and Embryonal|Neoplasms, Testis|Testicular Neoplasms; null; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Glioma; aplastic anemia, acquired	In spite of impaired telomerase function, homozygous mutant mice are overtly normal in early generations.  Impaired fertility has been reported in later generations for homozygotes of at least one knockout allele.	Formation of the beta-catenin:TCF transactivating complex	GO:0000723;telomere maintenance;TAS|GO:0001172;transcription, RNA-templated;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IDA|GO:0007004;telomere maintenance via telomerase;TAS|GO:0007005;mitochondrion organization;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0022616;DNA strand elongation;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IGI|GO:0030422;production of siRNA involved in RNA interference;IDA|GO:0031647;regulation of protein stability;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0032774;RNA biosynthetic process;IDA|GO:0042635;positive regulation of hair cycle;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046326;positive regulation of glucose import;IEA|GO:0046686;response to cadmium ion;IEA|GO:0051000;positive regulation of nitric-oxide synthase activity;IDA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0070200;establishment of protein localization to telomere;IDA|GO:0071456;cellular response to hypoxia;IMP|GO:0071897;DNA biosynthetic process;IDA|GO:0090399;replicative senescence;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1903620;positive regulation of transdifferentiation;IEA|GO:1903704;negative regulation of production of siRNA involved in RNA interference;IDA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA|GO:1904751;positive regulation of protein localization to nucleolus;IDA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;IEA|GO:2000648;positive regulation of stem cell proliferation;IEA|GO:2000773;negative regulation of cellular senescence;IDA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IMP|GO:0000723;telomere maintenance;TAS|GO:0001172;transcription, RNA-templated;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IDA|GO:0007004;telomere maintenance via telomerase;TAS|GO:0007005;mitochondrion organization;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0022616;DNA strand elongation;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IGI|GO:0030422;production of siRNA involved in RNA interference;IDA|GO:0031647;regulation of protein stability;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0032774;RNA biosynthetic process;IDA|GO:0042635;positive regulation of hair cycle;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046326;positive regulation of glucose import;IEA|GO:0046686;response to cadmium ion;IEA|GO:0051000;positive regulation of nitric-oxide synthase activity;IDA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0070200;establishment of protein localization to telomere;IDA|GO:0071456;cellular response to hypoxia;IMP|GO:0071897;DNA biosynthetic process;IDA|GO:0090399;replicative senescence;IMP|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1903620;positive regulation of transdifferentiation;IEA|GO:1903704;negative regulation of production of siRNA involved in RNA interference;IDA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA|GO:1904751;positive regulation of protein localization to nucleolus;IDA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;IEA|GO:2000648;positive regulation of stem cell proliferation;IEA|GO:2000773;negative regulation of cellular senescence;IDA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IMP	GO:0000333;telomerase catalytic core complex;IDA|GO:0000781;chromosome, telomeric region;IC|GO:0000783;nuclear telomere cap complex;IC|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005730;nucleolus;NAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;IEA|GO:0016605;PML body;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031379;RNA-directed RNA polymerase complex;IPI|GO:0042645;mitochondrial nucleoid;IDA|GO:1990572;TERT-RMRP complex;IDA	GO:0000049;tRNA binding;IDA|GO:0001223;transcription coactivator binding;IPI|GO:0003677;DNA binding;IDA|GO:0003720;telomerase activity;TAS|GO:0003721;telomerase RNA reverse transcriptase activity;TAS|GO:0003723;RNA binding;IPI|GO:0003964;RNA-directed DNA polymerase activity;IDA|GO:0003968;RNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0042162;telomeric DNA binding;TAS|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI|GO:0070034;telomerase RNA binding;IDA|GO:0098680;template-free RNA nucleotidyltransferase;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TERT	https://www.uniprot.org/uniprot/O14746	https://hpo.jax.org/app/browse/search?q=TERT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=187270	http://www.informatics.jax.org/searchtool/Search.do?query=TERT&submit=Quick%0D%199ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TERT	rs2736098	0.265575	0.2075	0.4045	1	0	0	exonic	exonic	exonic	TERT	TERT	ENSG00000164362	synonymous SNV	synonymous SNV	unknown	TERT:NM_001193376:exon2:c.G915A:p.A305A,TERT:NM_198253:exon2:c.G915A:p.A305A,	TERT:uc003jcb.1:exon2:c.G915A:p.A305A,TERT:uc003jca.1:exon2:c.G915A:p.A305A,TERT:uc003jcc.1:exon2:c.G915A:p.A305A,	UNKNOWN	Het;C>T	1496;82|72	Hom;C>T	4159;0|151
N	N	-	5	129621429	129621429	T	C	snp	intergenic	 	 	 	 	ENSG00000263954																		rs1981569	0.197085	0	0	1	0	0	intergenic	intergenic	intergenic	CHSY3(dist=99102),HINT1(dist=873547)	CHSY3(dist=99102),HINT1(dist=873547)	ENSG00000263954(dist=8043),ENSG00000252514(dist=100885)	Na	Na	Na	Na	Na	Na	Het;T>C	184;7|8	Hom;T>C	516;0|18
N	N	-	5	129721621	129721621	A	G	snp	downstream	 	 	 	 	RNU7-53P																		rs17165468	0.171925	0	0	1	0	0	intergenic	intergenic	downstream	CHSY3(dist=199294),HINT1(dist=773355)	CHSY3(dist=199294),HINT1(dist=773355)	ENSG00000252514	Na	Na	Na	Na	Na	Na	Het;A>G	393;27|21	Hom;A>G	1208;0|46
N	N	-	5	129921388	129921388	A	G	snp	intergenic	 	 	 	 	ARL2BPP4																		rs1978235	0.406949	0	0	1	0	0	intergenic	intergenic	intergenic	CHSY3(dist=399061),HINT1(dist=573588)	CHSY3(dist=399061),HINT1(dist=573588)	ENSG00000249312(dist=55806),ENSG00000249418(dist=12653)	Na	Na	Na	Na	Na	Na	Het;A>G	211;12|8	Hom;A>G	676;0|18
N	N	-	5	130325939	130325939	T	C	snp	ncRNA_exonic	 	 	 	 	AC113367.1																		rs1010208	0.747604	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CHSY3(dist=803612),HINT1(dist=169037)	CHSY3(dist=803612),HINT1(dist=169037)	ENSG00000244192	Na	Na	Na	Na	Na	Na	Het;T>C	715;22|31	Hom;T>C	1125;0|41
N	N	-	5	130326160	130326161	TG	T	indel	downstream	 	 	 	 	AC113367.1																		rs60647586	0.746805	0	0	1	0	0	intergenic	intergenic	downstream	CHSY3(dist=803833),HINT1(dist=168815)	CHSY3(dist=803833),HINT1(dist=168815)	ENSG00000244192	Na	Na	Na	Na	Na	Na	Het;-G	90;3|4	Hom;-G	144;0|5
N	N	-	5	130330693	130330693	A	C	snp	ncRNA_exonic	 	 	 	 	AC113367.3																		rs11242054	0.728834	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CHSY3(dist=808366),HINT1(dist=164283)	CHSY3(dist=808366),HINT1(dist=164283)	ENSG00000250405	Na	Na	Na	Na	Na	Na	Het;A>C	111;11|8	Hom;A>C	213;0|8
N	N	-	5	130726599	130726610	TAAAATTCTGGG	T	indel	intronic	 	 	 	 	CDC42SE2	Cdc42se2	ENSG00000158985	CDC42 small effector 2	chr5:130581186-130734140		schizophrenia	 		GO:0006909;phagocytosis;IEA|GO:0008360;regulation of cell shape;IEA|GO:0009966;regulation of signal transduction;IDA	GO:0001891;phagocytic cup;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDC42SE2				http://www.informatics.jax.org/searchtool/Search.do?query=CDC42SE2&submit=Quick%0D%10274ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC42SE2	rs147277736	0.297724	0	0	1	0	0	intronic	intronic	intronic	CDC42SE2	CDC42SE2	ENSG00000158985	Na	Na	Na	Na	Na	Na	Het;-AAAATTCTGGG	440;9|12	Hom;-AAAATTCTGGG	279;0|7
N	N	-	5	130766662	130766662	T	C	snp	nonsynonymous SNV	A4379G	Q1460R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	RAPGEF6	Rapgef6	ENSG00000158987	Rap guanine nucleotide exchange factor 6	chr5:130759614-130970929		Cholesterol; schizophrenia; Cholesterol, LDL	Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.		GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;NAS|GO:0030033;microvillus assembly;IGI|GO:0043087;regulation of GTPase activity;NAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0072659;protein localization to plasma membrane;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030139;endocytic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IDA|GO:0030742;GTP-dependent protein binding;IDA|GO:0070300;phosphatidic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF6			https://www.ncbi.nlm.nih.gov/omim/?term=610499	http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF6&submit=Quick%0D%10275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF6	rs1291602	0.899161	0.8820	0.8598	0.23	3	13	exonic	exonic	exonic	RAPGEF6	RAPGEF6	ENSG00000158987,ENSG00000273217	nonsynonymous SNV	nonsynonymous SNV	unknown	RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,	RAPGEF6:uc003kvm.2:exon5:c.A1124G:p.Q375R,RAPGEF6:uc003kvo.2:exon28:c.A4394G:p.Q1465R,RAPGEF6:uc003kvn.2:exon26:c.A4355G:p.Q1452R,RAPGEF6:uc010jdj.2:exon27:c.A4379G:p.Q1460R,RAPGEF6:uc003kvp.2:exon27:c.A4505G:p.Q1502R,RAPGEF6:uc010jdi.2:exon27:c.A4379G:p.Q1460R,	UNKNOWN	Het;T>C	1746;88|81	Hom;T>C	4572;0|162
N	N	-	5	130788642	130788642	A	C	snp	intronic	 	 	 	 	RAPGEF6	Rapgef6	ENSG00000158987	Rap guanine nucleotide exchange factor 6	chr5:130759614-130970929		Cholesterol; schizophrenia; Cholesterol, LDL	Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.		GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;NAS|GO:0030033;microvillus assembly;IGI|GO:0043087;regulation of GTPase activity;NAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0072659;protein localization to plasma membrane;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030139;endocytic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IDA|GO:0030742;GTP-dependent protein binding;IDA|GO:0070300;phosphatidic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF6			https://www.ncbi.nlm.nih.gov/omim/?term=610499	http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF6&submit=Quick%0D%10275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF6	rs12656936	0.288738	0	0	1	0	0	intronic	intronic	intronic	RAPGEF6	RAPGEF6	ENSG00000158987,ENSG00000273217	Na	Na	Na	Na	Na	Na	Het;A>C	166;2|6	Hom;A>C	262;0|7
N	N	-	5	130788698	130788698	C	T	snp	intronic	 	 	 	 	RAPGEF6	Rapgef6	ENSG00000158987	Rap guanine nucleotide exchange factor 6	chr5:130759614-130970929		Cholesterol; schizophrenia; Cholesterol, LDL	Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.		GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;NAS|GO:0030033;microvillus assembly;IGI|GO:0043087;regulation of GTPase activity;NAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0072659;protein localization to plasma membrane;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030139;endocytic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IDA|GO:0030742;GTP-dependent protein binding;IDA|GO:0070300;phosphatidic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF6			https://www.ncbi.nlm.nih.gov/omim/?term=610499	http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF6&submit=Quick%0D%10275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF6	rs10054168	0.402556	0.3210	0.2994	1	0	0	intronic	intronic	intronic	RAPGEF6	RAPGEF6	ENSG00000158987,ENSG00000273217	Na	Na	Na	Na	Na	Na	Het;C>T	642;18|27	Hom;C>T	1066;0|38
N	N	-	5	130805475	130805475	C	T	snp	intronic	 	 	 	 	RAPGEF6	Rapgef6	ENSG00000158987	Rap guanine nucleotide exchange factor 6	chr5:130759614-130970929		Cholesterol; schizophrenia; Cholesterol, LDL	Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.		GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;NAS|GO:0030033;microvillus assembly;IGI|GO:0043087;regulation of GTPase activity;NAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0072659;protein localization to plasma membrane;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030139;endocytic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IDA|GO:0030742;GTP-dependent protein binding;IDA|GO:0070300;phosphatidic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF6			https://www.ncbi.nlm.nih.gov/omim/?term=610499	http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF6&submit=Quick%0D%10275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF6	rs56228197	0.295527	0.1871	0.2297	1	0	0	intronic	intronic	intronic	RAPGEF6	RAPGEF6	ENSG00000158987,ENSG00000273217	Na	Na	Na	Na	Na	Na	Het;C>T	107;9|7	Hom;C>T	721;0|29
N	N	-	5	131247592	131247592	T	G	snp	ncRNA_intronic	 	 	 	 	MEIKIN	Meikin																	rs10057128	0.888578	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MEIKIN	LOC728637	ENSG00000239642	Na	Na	Na	Na	Na	Na	Het;T>G	1135;17|49	Hom;T>G	2753;0|102
N	N	-	5	131252554	131252554	C	T	snp	ncRNA_intronic	 	 	 	 	MEIKIN	Meikin																	rs60847707	0.283347	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MEIKIN	LOC728637	ENSG00000239642	Na	Na	Na	Na	Na	Na	Het;C>T	413;20|22	Hom;C>T	668;0|24
N	N	-	5	131269453	131269453	G	A	snp	ncRNA_intronic	 	 	 	 	MEIKIN	Meikin																	rs519240	0.434704	0	0	1	0	0	intronic	intronic	ncRNA_intronic	MEIKIN	LOC728637	ENSG00000239642	Na	Na	Na	Na	Na	Na	Het;G>A	106;4|5	Hom;G>A	476;0|14
N	N	-	5	131281106	131281106	G	C	snp	synonymous SNV	C93G	A31A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC728637																		rs652839	0.337859	0	0	1	0	0	exonic	exonic	ncRNA_exonic	MEIKIN	LOC728637	ENSG00000239642	synonymous SNV	synonymous SNV	Na	MEIKIN:NM_001303622:exon1:c.C93G:p.A31A,MEIKIN:NM_001278059:exon1:c.C93G:p.A31A,	LOC728637:uc031skz.1:exon1:c.C93G:p.A31A,	Na	Het;G>C	1199;94|53	Hom;G>C	3462;2|125
N	N	-	5	131312327	131312327	G	T	snp	intronic	 	 	 	 	ACSL6	Acsl6	ENSG00000164398	acyl-CoA synthetase long chain family member 6	chr5:131142683-131347936	The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]	Tobacco Use Disorder; schizophrenia; Ovarian Failure, Premature; schizoaffective disorder schizophrenia; prostate cancer	Knockout mice show altered or impaired lipogenesis and amino acid and nucleotide metabolism in the brain as well as changes to coordination and startle reflex.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL6			https://www.ncbi.nlm.nih.gov/omim/?term=604443	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL6&submit=Quick%0D%11295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL6	rs370652	0.897564	0.8769	0.8521	1	0	0	intronic	intronic	intronic	ACSL6	ACSL6	ENSG00000164398	Na	Na	Na	Na	Na	Na	Het;G>T	1008;43|52	Hom;G>T	2011;0|75
N	N	-	5	131320942	131320942	A	T	snp	intronic	 	 	 	 	ACSL6	Acsl6	ENSG00000164398	acyl-CoA synthetase long chain family member 6	chr5:131142683-131347936	The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]	Tobacco Use Disorder; schizophrenia; Ovarian Failure, Premature; schizoaffective disorder schizophrenia; prostate cancer	Knockout mice show altered or impaired lipogenesis and amino acid and nucleotide metabolism in the brain as well as changes to coordination and startle reflex.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL6			https://www.ncbi.nlm.nih.gov/omim/?term=604443	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL6&submit=Quick%0D%11295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL6	rs422291	0.312899	0	0	1	0	0	intronic	intronic	intronic	ACSL6	ACSL6	ENSG00000164398	Na	Na	Na	Na	Na	Na	Het;A>T	35;7|2	Hom;A>T	422;0|10
N	N	-	5	131320959	131320960	GT	G	indel	intronic	 	 	 	 	ACSL6	Acsl6	ENSG00000164398	acyl-CoA synthetase long chain family member 6	chr5:131142683-131347936	The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]	Tobacco Use Disorder; schizophrenia; Ovarian Failure, Premature; schizoaffective disorder schizophrenia; prostate cancer	Knockout mice show altered or impaired lipogenesis and amino acid and nucleotide metabolism in the brain as well as changes to coordination and startle reflex.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL6			https://www.ncbi.nlm.nih.gov/omim/?term=604443	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL6&submit=Quick%0D%11295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL6	rs67060241	0.453075	0	0	1	0	0	intronic	intronic	intronic	ACSL6	ACSL6	ENSG00000164398	Na	Na	Na	Na	Na	Na	Het;-T	59;10|3	Hom;-T	702;0|16
N	N	-	5	131320961	131320961	C	G	snp	intronic	 	 	 	 	ACSL6	Acsl6	ENSG00000164398	acyl-CoA synthetase long chain family member 6	chr5:131142683-131347936	The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]	Tobacco Use Disorder; schizophrenia; Ovarian Failure, Premature; schizoaffective disorder schizophrenia; prostate cancer	Knockout mice show altered or impaired lipogenesis and amino acid and nucleotide metabolism in the brain as well as changes to coordination and startle reflex.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL6			https://www.ncbi.nlm.nih.gov/omim/?term=604443	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL6&submit=Quick%0D%11295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL6	rs115222986	0.455072	0	0	1	0	0	intronic	intronic	intronic	ACSL6	ACSL6	ENSG00000164398	Na	Na	Na	Na	Na	Na	Het;C>G	68;10|3	Hom;C>G	711;0|18
N	N	-	5	131396332	131396332	C	T	snp	UTR5	-68C>T	 	 	 	IL3		ENSG00000164399	interleukin 3	chr5:131396222-131398897	The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; lung cancer ; Eosinophilia; Celiac Disease; thyroid cancer; Multiple Sclerosis; asthma atopy; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Alzheimer's disease ; longevity; Graves Disease; bladder cancer; asthma; atopy; Lymphoma, Large B-Cell, Diffuse; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Crohn Disease; Hypertension|Pre-Eclampsia|Pregnancy Complications; respiratory syncytial virus bronchiolitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; malaria, plasmodium falciparum; esophageal adenocarcinoma; Atopic asthma; rheumatoid arthritis; arthritis; chronic obstructive pulmonary disease; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Graves Disease|Graves' Disease; Hyperparathyroidism, Secondary	Mice homozygous for disruptions in this gene show abnormal mast cell development.  Contact hypersensitivity is reduced and resistance to parasitic invections is increased.	Interleukin receptor SHC signaling	GO:0000165;MAPK cascade;TAS|GO:0006955;immune response;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0035162;embryonic hemopoiesis;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005622;intracellular;IEA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0005135;interleukin-3 receptor binding;TAS|GO:0005149;interleukin-1 receptor binding;IBA|GO:0008083;growth factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL3			https://www.ncbi.nlm.nih.gov/omim/?term=147740	http://www.informatics.jax.org/searchtool/Search.do?query=IL3&submit=Quick%0D%11296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL3	rs31480	0.288339	0	0	1	0	0	upstream	upstream	UTR5	IL3	IL3	ENSG00000164399(ENST00000296870:c.-68C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	231;13|12	Hom;C>T	783;0|30
N	N	-	5	131396478	131396478	C	T	snp	nonsynonymous SNV	C79T	P27S	hydrophobic,neutral	polar,hydrophilic,neutral	IL3		ENSG00000164399	interleukin 3	chr5:131396222-131398897	The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; lung cancer ; Eosinophilia; Celiac Disease; thyroid cancer; Multiple Sclerosis; asthma atopy; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Alzheimer's disease ; longevity; Graves Disease; bladder cancer; asthma; atopy; Lymphoma, Large B-Cell, Diffuse; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Crohn Disease; Hypertension|Pre-Eclampsia|Pregnancy Complications; respiratory syncytial virus bronchiolitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; malaria, plasmodium falciparum; esophageal adenocarcinoma; Atopic asthma; rheumatoid arthritis; arthritis; chronic obstructive pulmonary disease; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Graves Disease|Graves' Disease; Hyperparathyroidism, Secondary	Mice homozygous for disruptions in this gene show abnormal mast cell development.  Contact hypersensitivity is reduced and resistance to parasitic invections is increased.	Interleukin receptor SHC signaling	GO:0000165;MAPK cascade;TAS|GO:0006955;immune response;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0035162;embryonic hemopoiesis;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005622;intracellular;IEA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0005135;interleukin-3 receptor binding;TAS|GO:0005149;interleukin-1 receptor binding;IBA|GO:0008083;growth factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL3			https://www.ncbi.nlm.nih.gov/omim/?term=147740	http://www.informatics.jax.org/searchtool/Search.do?query=IL3&submit=Quick%0D%11296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL3	rs40401	0.419529	0.3244	0.2916	0.08	1	13	exonic	exonic	exonic	IL3	IL3	ENSG00000164399	nonsynonymous SNV	nonsynonymous SNV	unknown	IL3:NM_000588:exon1:c.C79T:p.P27S,	IL3:uc003kwe.1:exon1:c.C79T:p.P27S,	UNKNOWN	Het;C>T	863;40|40	Hom;C>T	2660;0|99
N	N	-	5	131411460	131411460	T	C	snp	nonsynonymous SNV	T350C	I117T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CSF2	Csf2	ENSG00000164400	colony stimulating factor 2	chr5:131409483-131411859	The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008]	lung cancer ; chronic obstructive pulmonary disease; lung cancer; Alzheimer's disease ; respiratory syncytial virus bronchiolitis; asthma; atopy; dermatitis and eczema; Inflammation|Venous Thromboembolism; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Bone Mineral Density; Recurrence|Venous Thromboembolism; Pulmonary Disease, Chronic Obstructive; asthma atopy; Hypertension|Pre-Eclampsia|Pregnancy Complications; bladder cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Erythema Nodosum|Sarcoidosis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Brain Ischemia|Inflammation|Stroke; null; Blindness|Trachoma; atherosclerosis; Arthritis, Rheumatoid; atopic dermatitis.; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Migraine Disorders; diabetes, type 2; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chlamydia Infections|Inflammation|Trachoma; Type 2 Diabetes| edema | rosiglitazone; Asthma; Rhinitis, Allergic, Seasonal; thyroid cancer; Chronic Obstructive Pulmonary Disease; Type 2 diabetes; dermatitis and eczema; Coronary Artery Disease|Inflammation; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Chronic renal failure|Kidney Failure, Chronic	Homozygotes for targeted null mutations exhibit lung abnormalities with lymphocytic infiltration and accumulation of surfactant lipids. Litter sizes from homozygous breeding pairs are smaller at weaning due to perinatal mortality.	Interleukin receptor SHC signaling	GO:0000165;MAPK cascade;TAS|GO:0001821;histamine secretion;IEA|GO:0001892;embryonic placenta development;IEA|GO:0006955;immune response;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010744;positive regulation of macrophage derived foam cell differentiation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030223;neutrophil differentiation;IEA|GO:0030224;monocyte differentiation;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0034021;response to silicon dioxide;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0042116;macrophage activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0043011;myeloid dendritic cell differentiation;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045187;regulation of circadian sleep/wake cycle, sleep;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045918;negative regulation of cytolysis;IDA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071803;positive regulation of podosome assembly;IDA|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IDA|GO:0097028;dendritic cell differentiation;IDA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0005129;granulocyte macrophage colony-stimulating factor receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CSF2			https://www.ncbi.nlm.nih.gov/omim/?term=138960	http://www.informatics.jax.org/searchtool/Search.do?query=CSF2&submit=Quick%0D%11297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF2	rs25882	0.34984	0.2484	0.2644	0.08	1	13	exonic	exonic	exonic	CSF2	CSF2	ENSG00000164400	nonsynonymous SNV	nonsynonymous SNV	unknown	CSF2:NM_000758:exon4:c.T350C:p.I117T,	CSF2:uc003kwf.4:exon4:c.T350C:p.I117T,	UNKNOWN	Het;T>C	1392;72|65	Hom;T>C	3408;0|120
N	N	-	5	131546280	131546280	A	G	snp	intronic	 	 	 	 	P4HA2	P4ha2	ENSG00000072682	prolyl 4-hydroxylase subunit alpha 2	chr5:131527531-131631008	This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Blood Pressure; ovarian cancer; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Crohn's disease; Neuroblastoma	 	Collagen biosynthesis and modifying enzymes	GO:0019511;peptidyl-proline hydroxylation;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004656;procollagen-proline 4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0031418;L-ascorbic acid binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/P4HA2	https://www.uniprot.org/uniprot/O15460	https://hpo.jax.org/app/browse/search?q=P4HA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600608	http://www.informatics.jax.org/searchtool/Search.do?query=P4HA2&submit=Quick%0D%1442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P4HA2	rs154483	0.526558	0	0	1	0	0	intronic	intronic	intronic	P4HA2	P4HA2	ENSG00000072682	Na	Na	Na	Na	Na	Na	Het;A>G	388;29|20	Hom;A>G	1404;0|42
N	N	-	5	131553665	131553665	A	G	snp	intronic	 	 	 	 	P4HA2	P4ha2	ENSG00000072682	prolyl 4-hydroxylase subunit alpha 2	chr5:131527531-131631008	This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Blood Pressure; ovarian cancer; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Crohn's disease; Neuroblastoma	 	Collagen biosynthesis and modifying enzymes	GO:0019511;peptidyl-proline hydroxylation;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0004656;procollagen-proline 4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016702;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0031418;L-ascorbic acid binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/P4HA2	https://www.uniprot.org/uniprot/O15460	https://hpo.jax.org/app/browse/search?q=P4HA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600608	http://www.informatics.jax.org/searchtool/Search.do?query=P4HA2&submit=Quick%0D%1442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P4HA2	rs154485	0.527157	0	0	1	0	0	intronic	intronic	intronic	P4HA2	P4HA2	ENSG00000072682	Na	Na	Na	Na	Na	Na	Het;A>G	295;10|12	Hom;A>G	537;0|19
N	N	-	5	131663062	131663062	T	C	snp	nonsynonymous SNV	T917C	I306T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SLC22A4	Slc22a4	ENSG00000197208	solute carrier family 22 member 4	chr5:131630136-131679899	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]	psoriasis; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease; ulcerative colitis; metformin pharmacokinetics; schizophrenia; gabapentin clearance; ulcerative colitis; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Fibrinogen; cholangitis, sclerosing; inflammatory bowel disease ; psoriasis; arthritis, psoriatic; arthritis, inflammatory; Crohn Disease|Crohn's disease|Growth Disorders; Crohn Disease|; diabetes, type 1; Tuberculosis; Acquired Immunodeficiency Syndrome|Disease Progression; Crohn's disease; Neuroblastoma; normal variation; Arthritis, Rheumatoid; rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease; Inflammatory Bowel Diseases; colorectal cancer; rheumatoid arthritis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chronic renal failure|Kidney Failure, Chronic; Metabolism; fibrinogen; null; Body Height; Crohn's disease; ulcerative colitis; inflammatory bowel disease; rheumatoid arthritis; Crohn's disease; Colitis, Ulcerative|Crohn Disease|; Crohn's disease ulcerative colitis; renal clearance of metformin; Crohn Disease|Food Hypersensitivity|; Crohn Disease; Crohn's disease inflammatory bowel disease ulcerative colitis; lupus erythematosus; perianal disease; Arthritis, Rheumatoid|; Arthritis, Rheumatoid|Diabetes Mellitus, Type 1; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit complete loss of ergothioneine with reduced absorption and increased excretion and increased susceptibility of small intestine to inflammation following ischemia and reperfusion.	Organic cation transport	GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007589;body fluid secretion;TAS|GO:0009437;carnitine metabolic process;IEA|GO:0015695;organic cation transport;TAS|GO:0015697;quaternary ammonium group transport;IDA|GO:0015711;organic anion transport;IEA|GO:0015879;carnitine transport;IDA|GO:0034220;ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902603;carnitine transmembrane transport;IEA	GO:0005739;mitochondrion;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA	GO:0000166;nucleotide binding;TAS|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008513;secondary active organic cation transmembrane transporter activity;TAS|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015226;carnitine transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015491;cation:cation antiporter activity;IDA|GO:0015651;quaternary ammonium group transmembrane transporter activity;IDA|GO:0022857;transmembrane transporter activity;IEA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A4			https://www.ncbi.nlm.nih.gov/omim/?term=604190	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A4&submit=Quick%0D%16571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A4	rs272893	0.554113	0.6572	0.5767	0.23	3	13	exonic	exonic	exonic	SLC22A4	SLC22A4	ENSG00000197208	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC22A4:NM_003059:exon5:c.T917C:p.I306T,	SLC22A4:uc003kwq.3:exon5:c.T917C:p.I306T,	UNKNOWN	Het;T>C	359;12|18	Hom;T>C	1053;0|34
N	N	-	5	131670546	131670546	C	G	snp	synonymous SNV	C1182G	T394T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC22A4	Slc22a4	ENSG00000197208	solute carrier family 22 member 4	chr5:131630136-131679899	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]	psoriasis; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease; ulcerative colitis; metformin pharmacokinetics; schizophrenia; gabapentin clearance; ulcerative colitis; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Fibrinogen; cholangitis, sclerosing; inflammatory bowel disease ; psoriasis; arthritis, psoriatic; arthritis, inflammatory; Crohn Disease|Crohn's disease|Growth Disorders; Crohn Disease|; diabetes, type 1; Tuberculosis; Acquired Immunodeficiency Syndrome|Disease Progression; Crohn's disease; Neuroblastoma; normal variation; Arthritis, Rheumatoid; rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease; Inflammatory Bowel Diseases; colorectal cancer; rheumatoid arthritis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chronic renal failure|Kidney Failure, Chronic; Metabolism; fibrinogen; null; Body Height; Crohn's disease; ulcerative colitis; inflammatory bowel disease; rheumatoid arthritis; Crohn's disease; Colitis, Ulcerative|Crohn Disease|; Crohn's disease ulcerative colitis; renal clearance of metformin; Crohn Disease|Food Hypersensitivity|; Crohn Disease; Crohn's disease inflammatory bowel disease ulcerative colitis; lupus erythematosus; perianal disease; Arthritis, Rheumatoid|; Arthritis, Rheumatoid|Diabetes Mellitus, Type 1; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit complete loss of ergothioneine with reduced absorption and increased excretion and increased susceptibility of small intestine to inflammation following ischemia and reperfusion.	Organic cation transport	GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007589;body fluid secretion;TAS|GO:0009437;carnitine metabolic process;IEA|GO:0015695;organic cation transport;TAS|GO:0015697;quaternary ammonium group transport;IDA|GO:0015711;organic anion transport;IEA|GO:0015879;carnitine transport;IDA|GO:0034220;ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902603;carnitine transmembrane transport;IEA	GO:0005739;mitochondrion;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA	GO:0000166;nucleotide binding;TAS|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008513;secondary active organic cation transmembrane transporter activity;TAS|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015226;carnitine transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015491;cation:cation antiporter activity;IDA|GO:0015651;quaternary ammonium group transmembrane transporter activity;IDA|GO:0022857;transmembrane transporter activity;IEA|GO:0030165;PDZ domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A4			https://www.ncbi.nlm.nih.gov/omim/?term=604190	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A4&submit=Quick%0D%16571ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A4	rs272879	0.520168	0.6238	0.5613	1	0	0	exonic	exonic	exonic	SLC22A4	SLC22A4	ENSG00000197208	synonymous SNV	synonymous SNV	unknown	SLC22A4:NM_003059:exon7:c.C1182G:p.T394T,	SLC22A4:uc003kwq.3:exon7:c.C1182G:p.T394T,	UNKNOWN	Het;C>G	969;51|46	Hom;C>G	2994;0|104
N	N	-	5	131671769	131671769	T	C	snp	ncRNA_intronic	 	 	 	 	LOC553103																		rs272878	0.671526	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC553103	LOC553103	ENSG00000233006	Na	Na	Na	Na	Na	Na	Het;T>C	255;7|10	Hom;T>C	345;0|12
N	N	-	5	131701279	131701279	T	C	snp	ncRNA_exonic	 	 	 	 	MIR3936																		rs367805	0.652556	0	0.6907	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR3936	MIR3936	ENSG00000263597	Na	Na	Na	Na	Na	Na	Het;T>C	2752;113|134	Hom;T>C	5300;3|202
N	N	-	5	132234182	132234183	CT	C	indel	intronic	 	 	 	 	AFF4	Aff4	ENSG00000072364	AF4/FMR2 family member 4	chr5:132211071-132299326	The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]	Tobacco Use Disorder	Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities.	RNA Polymerase II Transcription Elongation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0035327;transcriptionally active chromatin;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFF4	https://www.uniprot.org/uniprot/Q9UHB7	https://hpo.jax.org/app/browse/search?q=AFF4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604417	http://www.informatics.jax.org/searchtool/Search.do?query=AFF4&submit=Quick%0D%1432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF4	rs34333760	0.448083	0	0	1	0	0	intronic	intronic	intronic	AFF4	AFF4	ENSG00000072364	Na	Na	Na	Na	Na	Na	Het;-T	216;4|14	Hom;-T	338;0|14
N	N	-	5	132561277	132561277	G	A	snp	intronic	 	 	 	 	FSTL4	Fstl4	ENSG00000053108	follistatin like 4	chr5:132532147-132948255		Hypertension; Tobacco Use Disorder; Attention Deficit and Disruptive Behavior Disorders; Blood Cells; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Weight; Myocardial Infarction; Metabolism; Cholesterol, LDL; Insulin Resistance; Hemoglobins; Erythrocyte Count; Basophils; Diabetes Mellitus, Type 1; Cholesterol; Hemoglobin A, Glycosylated; Asthma; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke	Homozygous null mice were born at expected Mendelian ratio and healthy, fertile,  apparently normal with normal retinal laminar structure.		GO:0031549;negative regulation of brain-derived neurotrophic factor receptor signaling pathway;IEA|GO:0048670;regulation of collateral sprouting;IEA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0061000;negative regulation of dendritic spine development;IEA	GO:0005576;extracellular region;IEA|GO:0030141;secretory granule;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048403;brain-derived neurotrophic factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FSTL4	https://www.uniprot.org/uniprot/Q6MZW2			http://www.informatics.jax.org/searchtool/Search.do?query=FSTL4&submit=Quick%0D%953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSTL4	rs2241583	0.620807	0	0	1	0	0	intronic	intronic	intronic	FSTL4	FSTL4	ENSG00000053108	Na	Na	Na	Na	Na	Na	Het;G>A	591;11|24	Hom;G>A	765;0|24
N	N	-	5	13329	13329	C	G	snp	intergenic	 	 	 	 	NONE																		rs28472500	0.816494	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),PLEKHG4B(dist=127044)	NONE(dist=NONE),PLEKHG4B(dist=127044)	NONE(dist=NONE),ENSG00000250020(dist=44984)	Na	Na	Na	Na	Na	Na	Het;C>G	186;8|8	Hom;C>G	313;0|12
N	N	-	5	1334507	1334508	GA	G	indel	intronic	 	 	 	 	CLPTM1L	Clptm1l	ENSG00000274811	CLPTM1 like	chr5:1317859-1345214	The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]	Lung Neoplasms; Urinary Bladder Neoplasms; Alzheimer's disease ; lung adenocarcinoma; Prostate-Specific Antigen; Neoplasms, Germ Cell and Embryonal|Neoplasms, Testis|Testicular Neoplasms; bladder cancer; Diabetes Mellitus; lung cancer; lung cancer ; Pancreatic Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Coronary Artery Disease|Melanoma|Skin Neoplasms; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; pancreatic cancer; Breast Neoplasms|Colorectal Neoplasms|Mammary Neoplasms|melanoma|Neoplasms; Melanoma	Mice homozygous for a knock-out allele exhibit partial prenatal and neonatal lethality; however, surviving mice are fertile and overtly normal with no significant alterations in the development, maturation and differentiation of B-lymphocytes or production of antibodies by antibody secreting cells.		GO:0006915;apoptotic process;IEA	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CLPTM1L	https://www.uniprot.org/uniprot/Q96KA5		https://www.ncbi.nlm.nih.gov/omim/?term=612585	http://www.informatics.jax.org/searchtool/Search.do?query=CLPTM1L&submit=Quick%0D%21208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLPTM1L	rs397768407	0.632188	0	0.6258	1	0	0	intronic	intronic	intronic	CLPTM1L	CLPTM1L	ENSG00000049656	Na	Na	Na	Na	Na	Na	Het;-A	929;33|47	Hom;-A	1031;2|44
N	N	-	5	133473697	133473697	T	C	snp	intronic	 	 	 	 	TCF7	Tcf7	ENSG00000081059	transcription factor 7	chr5:133450402-133487556		Multiple Sclerosis; Coronary Artery Disease|Inflammation; Type 2 Diabetes| edema | rosiglitazone; colorectal cancer; Type 2 diabetes; diabetes, type 1; Brain Ischemia|Inflammation|Stroke; Recurrence|Venous Thromboembolism; Migraine Disorders; Bone Mineral Density; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Brain Ischemia|Hypertension|Osteoporosis|Stroke; diabetes, type 2	Homozygous null mice have defects in T cell development leading to decreased numbers of T cells in the periphery.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006955;immune response;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030538;embryonic genitalia morphogenesis;IEA|GO:0033153;T cell receptor V(D)J recombination;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0044336;canonical Wnt signaling pathway involved in negative regulation of apoptotic process;IEA|GO:0046632;alpha-beta T cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048619;embryonic hindgut morphogenesis;IEA|GO:0060070;canonical Wnt signaling pathway;IBA|GO:0071353;cellular response to interleukin-4;IDA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005719;nuclear euchromatin;IEA|GO:0016604;nuclear body;IDA	GO:0001047;core promoter binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TCF7	https://www.uniprot.org/uniprot/P36402		https://www.ncbi.nlm.nih.gov/omim/?term=189908	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7&submit=Quick%0D%1758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7	rs249610	0.345447	0	0	1	0	0	intronic	intronic	intronic	TCF7	TCF7	ENSG00000081059	Na	Na	Na	Na	Na	Na	Het;T>C	147;24|9	Hom;T>C	112;0|5
N	N	-	5	133474591	133474591	A	G	snp	intronic	 	 	 	 	TCF7	Tcf7	ENSG00000081059	transcription factor 7	chr5:133450402-133487556		Multiple Sclerosis; Coronary Artery Disease|Inflammation; Type 2 Diabetes| edema | rosiglitazone; colorectal cancer; Type 2 diabetes; diabetes, type 1; Brain Ischemia|Inflammation|Stroke; Recurrence|Venous Thromboembolism; Migraine Disorders; Bone Mineral Density; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Brain Ischemia|Hypertension|Osteoporosis|Stroke; diabetes, type 2	Homozygous null mice have defects in T cell development leading to decreased numbers of T cells in the periphery.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006955;immune response;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030538;embryonic genitalia morphogenesis;IEA|GO:0033153;T cell receptor V(D)J recombination;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0044336;canonical Wnt signaling pathway involved in negative regulation of apoptotic process;IEA|GO:0046632;alpha-beta T cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048619;embryonic hindgut morphogenesis;IEA|GO:0060070;canonical Wnt signaling pathway;IBA|GO:0071353;cellular response to interleukin-4;IDA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005719;nuclear euchromatin;IEA|GO:0016604;nuclear body;IDA	GO:0001047;core promoter binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TCF7	https://www.uniprot.org/uniprot/P36402		https://www.ncbi.nlm.nih.gov/omim/?term=189908	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7&submit=Quick%0D%1758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7	rs891896	0.368011	0.2584	0.2461	1	0	0	intronic	intronic	intronic	TCF7	TCF7	ENSG00000081059	Na	Na	Na	Na	Na	Na	Het;A>G	884;41|33	Hom;A>G	1414;0|50
N	N	-	5	133478341	133478341	G	A	snp	intronic	 	 	 	 	TCF7	Tcf7	ENSG00000081059	transcription factor 7	chr5:133450402-133487556		Multiple Sclerosis; Coronary Artery Disease|Inflammation; Type 2 Diabetes| edema | rosiglitazone; colorectal cancer; Type 2 diabetes; diabetes, type 1; Brain Ischemia|Inflammation|Stroke; Recurrence|Venous Thromboembolism; Migraine Disorders; Bone Mineral Density; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Brain Ischemia|Hypertension|Osteoporosis|Stroke; diabetes, type 2	Homozygous null mice have defects in T cell development leading to decreased numbers of T cells in the periphery.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006955;immune response;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030538;embryonic genitalia morphogenesis;IEA|GO:0033153;T cell receptor V(D)J recombination;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0044336;canonical Wnt signaling pathway involved in negative regulation of apoptotic process;IEA|GO:0046632;alpha-beta T cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048619;embryonic hindgut morphogenesis;IEA|GO:0060070;canonical Wnt signaling pathway;IBA|GO:0071353;cellular response to interleukin-4;IDA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005719;nuclear euchromatin;IEA|GO:0016604;nuclear body;IDA	GO:0001047;core promoter binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TCF7	https://www.uniprot.org/uniprot/P36402		https://www.ncbi.nlm.nih.gov/omim/?term=189908	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7&submit=Quick%0D%1758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7	rs152402	0.348043	0	0	1	0	0	intronic	intronic	intronic	TCF7	TCF7	ENSG00000081059	Na	Na	Na	Na	Na	Na	Het;G>A	398;20|19	Hom;G>A	1046;0|37
N	N	-	5	133478359	133478359	A	C	snp	intronic	 	 	 	 	TCF7	Tcf7	ENSG00000081059	transcription factor 7	chr5:133450402-133487556		Multiple Sclerosis; Coronary Artery Disease|Inflammation; Type 2 Diabetes| edema | rosiglitazone; colorectal cancer; Type 2 diabetes; diabetes, type 1; Brain Ischemia|Inflammation|Stroke; Recurrence|Venous Thromboembolism; Migraine Disorders; Bone Mineral Density; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Brain Ischemia|Hypertension|Osteoporosis|Stroke; diabetes, type 2	Homozygous null mice have defects in T cell development leading to decreased numbers of T cells in the periphery.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006955;immune response;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030538;embryonic genitalia morphogenesis;IEA|GO:0033153;T cell receptor V(D)J recombination;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0044336;canonical Wnt signaling pathway involved in negative regulation of apoptotic process;IEA|GO:0046632;alpha-beta T cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048619;embryonic hindgut morphogenesis;IEA|GO:0060070;canonical Wnt signaling pathway;IBA|GO:0071353;cellular response to interleukin-4;IDA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005719;nuclear euchromatin;IEA|GO:0016604;nuclear body;IDA	GO:0001047;core promoter binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TCF7	https://www.uniprot.org/uniprot/P36402		https://www.ncbi.nlm.nih.gov/omim/?term=189908	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7&submit=Quick%0D%1758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7	rs152401	0.359026	0	0	1	0	0	intronic	intronic	intronic	TCF7	TCF7	ENSG00000081059	Na	Na	Na	Na	Na	Na	Het;A>C	595;26|28	Hom;A>C	1332;0|46
N	N	-	5	133483382	133483382	C	T	snp	UTR3	*1388C>T	 	 	 	TCF7	Tcf7	ENSG00000081059	transcription factor 7	chr5:133450402-133487556		Multiple Sclerosis; Coronary Artery Disease|Inflammation; Type 2 Diabetes| edema | rosiglitazone; colorectal cancer; Type 2 diabetes; diabetes, type 1; Brain Ischemia|Inflammation|Stroke; Recurrence|Venous Thromboembolism; Migraine Disorders; Bone Mineral Density; Inflammation|Venous Thromboembolism; Chlamydia Infections|Inflammation|Trachoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Brain Ischemia|Hypertension|Osteoporosis|Stroke; diabetes, type 2	Homozygous null mice have defects in T cell development leading to decreased numbers of T cells in the periphery.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006955;immune response;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0030538;embryonic genitalia morphogenesis;IEA|GO:0033153;T cell receptor V(D)J recombination;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0044336;canonical Wnt signaling pathway involved in negative regulation of apoptotic process;IEA|GO:0046632;alpha-beta T cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048619;embryonic hindgut morphogenesis;IEA|GO:0060070;canonical Wnt signaling pathway;IBA|GO:0071353;cellular response to interleukin-4;IDA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005719;nuclear euchromatin;IEA|GO:0016604;nuclear body;IDA	GO:0001047;core promoter binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TCF7	https://www.uniprot.org/uniprot/P36402		https://www.ncbi.nlm.nih.gov/omim/?term=189908	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7&submit=Quick%0D%1758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7	rs1058023	0.350439	0	0	1	0	0	UTR3	UTR3	UTR3	TCF7(NM_003202:c.*1388C>T,NM_201632:c.*1388C>T,NM_001134851:c.*1871C>T,NM_213648:c.*1388C>T,NM_201634:c.*1487C>T)	TCF7(uc003kyt.3:c.*1388C>T,uc003kyv.3:c.*1487C>T,uc003kyw.3:c.*1388C>T,uc003kyu.2:c.*1871C>T,uc003kyy.3:c.*1388C>T,uc003kyx.3:c.*1388C>T,uc003kyz.3:c.*1170C>T,uc003kza.3:c.*1468C>T,uc003kzb.3:c.*1388C>T)	ENSG00000081059(ENST00000342854:c.*1388C>T,ENST00000395029:c.*1170C>T,ENST00000378560:c.*1487C>T,ENST00000395023:c.*1388C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	694;23|30	Hom;C>T	1249;0|46
N	N	-	5	134164284	134164285	GT	G	indel	intronic	 	 	 	 	DDX46	Ddx46	ENSG00000145833	DEAD-box helicase 46	chr5:134094469-134190823	This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]	height	 	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0010468;regulation of gene expression;IBA|GO:0010501;RNA secondary structure unwinding;IBA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0015030;Cajal body;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX46	https://www.uniprot.org/uniprot/Q7L014			http://www.informatics.jax.org/searchtool/Search.do?query=DDX46&submit=Quick%0D%8792ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX46	rs34675300	0.872204	0	0	1	0	0	intronic	intronic	intronic	DDX46	DDX46	ENSG00000145833	Na	Na	Na	Na	Na	Na	Het;-T	453;4|23	Hom;-T	427;0|19
N	N	-	5	134263985	134263985	T	G	snp	ncRNA_exonic	 	 	 	 	MTND4LP30																		rs56364690	0.614816	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PCBD2	PCBD2	ENSG00000198868	Na	Na	Na	Na	Na	Na	Het;T>G	49;2|3	Hom;T>G	736;0|26
N	N	-	5	134914350	134914350	G	A	snp	ncRNA_intronic	 	 	 	 	AC034206.1																		rs2072347	0.199081	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CXCL14	CXCL14	ENSG00000250167	Na	Na	Na	Na	Na	Na	Het;G>A	197;6|10	Hom;G>A	359;0|14
N	N	-	5	134948309	134948309	G	A	snp	ncRNA_intronic	 	 	 	 	AC034206.1																		rs11739616	0.50639	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CXCL14(dist=33340),LOC340074(dist=36063)	CXCL14(dist=33340),LOC340074(dist=36063)	ENSG00000250167	Na	Na	Na	Na	Na	Na	Het;G>A	87;5|4	Hom;G>A	106;0|4
N	N	-	5	135178124	135178124	T	C	snp	synonymous SNV	T66C	V22V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC25A48		ENSG00000145832	solute carrier family 25 member 48	chr5:135170338-135224326		benzene haematotoxicity			GO:0006810;transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0022857;transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A48	https://www.uniprot.org/uniprot/Q6ZT89		https://www.ncbi.nlm.nih.gov/omim/?term=616150	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A48&submit=Quick%0D%8791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A48	rs2304075	0.743011	0.8075	0.7707	1	0	0	exonic	exonic	exonic	SLC25A48	SLC25A48	ENSG00000145832	synonymous SNV	synonymous SNV	unknown	SLC25A48:NM_145282:exon2:c.T66C:p.V22V,	SLC25A48:uc003lba.3:exon2:c.T66C:p.V22V,SLC25A48:uc003laz.1:exon2:c.T66C:p.V22V,	UNKNOWN	Het;T>C	397;26|20	Hom;T>C	994;0|40
N	N	-	5	135188214	135188214	G	C	snp	intronic	 	 	 	 	SLC25A48		ENSG00000145832	solute carrier family 25 member 48	chr5:135170338-135224326		benzene haematotoxicity			GO:0006810;transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0022857;transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A48	https://www.uniprot.org/uniprot/Q6ZT89		https://www.ncbi.nlm.nih.gov/omim/?term=616150	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A48&submit=Quick%0D%8791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A48	rs2304078	0.742812	0.7877	0.7646	1	0	0	intronic	intronic	intronic	SLC25A48	SLC25A48	ENSG00000145832	Na	Na	Na	Na	Na	Na	Het;G>C	465;12|17	Hom;G>C	454;1|17
N	N	-	5	135651940	135651940	G	A	snp	intronic	 	 	 	 	TRPC7	Trpc7	ENSG00000069018	transient receptor potential cation channel subfamily C member 7	chr5:135548999-135732730		Chromosome Deletion|Myelodysplastic Syndromes; Lipoproteins; Body Mass Index; Diabetes Mellitus; Body Weight Changes; Bipolar Disorder; Body Composition; Follicle Stimulating Hormone; Tobacco Use Disorder; C-Reactive Protein; Body Weight; Bone Density	Mice homozygous for a knock-out allele exhibit abnormal eye physiology.	Role of second messengers in netrin-1 signaling	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006828;manganese ion transport;IEA|GO:0007338;single fertilization;IBA|GO:0030168;platelet activation;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005801;cis-Golgi network;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TRPC7	https://www.uniprot.org/uniprot/Q9HCX4			http://www.informatics.jax.org/searchtool/Search.do?query=TRPC7&submit=Quick%0D%1307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC7	rs10070699	0.686701	0	0	1	0	0	intronic	intronic	intronic	TRPC7	TRPC7	ENSG00000069018	Na	Na	Na	Na	Na	Na	Het;G>A	124;2|6	Hom;G>A	290;0|9
N	N	-	5	135692143	135692143	A	G	snp	intronic	 	 	 	 	TRPC7	Trpc7	ENSG00000069018	transient receptor potential cation channel subfamily C member 7	chr5:135548999-135732730		Chromosome Deletion|Myelodysplastic Syndromes; Lipoproteins; Body Mass Index; Diabetes Mellitus; Body Weight Changes; Bipolar Disorder; Body Composition; Follicle Stimulating Hormone; Tobacco Use Disorder; C-Reactive Protein; Body Weight; Bone Density	Mice homozygous for a knock-out allele exhibit abnormal eye physiology.	Role of second messengers in netrin-1 signaling	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006828;manganese ion transport;IEA|GO:0007338;single fertilization;IBA|GO:0030168;platelet activation;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005801;cis-Golgi network;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TRPC7	https://www.uniprot.org/uniprot/Q9HCX4			http://www.informatics.jax.org/searchtool/Search.do?query=TRPC7&submit=Quick%0D%1307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC7	rs2649699	0.663938	0	0	1	0	0	intronic	intronic	intronic	TRPC7	TRPC7	ENSG00000069018	Na	Na	Na	Na	Na	Na	Het;A>G	39;5|3	Hom;A>G	100;0|3
N	N	-	5	135700900	135700900	G	GA	indel	intronic	 	 	 	 	TRPC7	Trpc7	ENSG00000069018	transient receptor potential cation channel subfamily C member 7	chr5:135548999-135732730		Chromosome Deletion|Myelodysplastic Syndromes; Lipoproteins; Body Mass Index; Diabetes Mellitus; Body Weight Changes; Bipolar Disorder; Body Composition; Follicle Stimulating Hormone; Tobacco Use Disorder; C-Reactive Protein; Body Weight; Bone Density	Mice homozygous for a knock-out allele exhibit abnormal eye physiology.	Role of second messengers in netrin-1 signaling	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006828;manganese ion transport;IEA|GO:0007338;single fertilization;IBA|GO:0030168;platelet activation;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005801;cis-Golgi network;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005216;ion channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TRPC7	https://www.uniprot.org/uniprot/Q9HCX4			http://www.informatics.jax.org/searchtool/Search.do?query=TRPC7&submit=Quick%0D%1307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC7	rs11404834	0.302516	0.3060	0.3574	1	0	0	intronic	intronic	intronic	TRPC7	TRPC7	ENSG00000069018	Na	Na	Na	Na	Na	Na	Het;+A	427;24|21	Hom;+A	1306;0|50
N	N	-	5	136466704	136466704	C	T	snp	intronic	 	 	 	 	SPOCK1	Spock1	ENSG00000152377	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 1	chr5:136310987-136934068	This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; null; Diabetes Mellitus; Creatinine	Mice homozygous for a targeted null mutation display no obvious morphological or behavioral abnormalities, are fertile, and have normal life spans. Adult homozygotes exhibit normal brain morphology and EEG recordings.		GO:0001558;regulation of cell growth;NAS|GO:0001764;neuron migration;ISS|GO:0007155;cell adhesion;NAS|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;NAS|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010951;negative regulation of endopeptidase activity;IDA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0021953;central nervous system neuron differentiation;ISS|GO:0022008;neurogenesis;ISS	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;ISS|GO:0014069;postsynaptic density;NAS|GO:0016528;sarcoplasm;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS	GO:0004867;serine-type endopeptidase inhibitor activity;NAS|GO:0004869;cysteine-type endopeptidase inhibitor activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0008191;metalloendopeptidase inhibitor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SPOCK1	https://www.uniprot.org/uniprot/Q08629		https://www.ncbi.nlm.nih.gov/omim/?term=602264	http://www.informatics.jax.org/searchtool/Search.do?query=SPOCK1&submit=Quick%0D%9538ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPOCK1	rs2905979	0.872204	0	0	1	0	0	intronic	intronic	intronic	SPOCK1	SPOCK1	ENSG00000152377	Na	Na	Na	Na	Na	Na	Het;C>T	324;12|14	Hom;C>T	707;0|25
N	N	-	5	137506434	137506434	G	A	snp	intronic	 	 	 	 	BRD8	Brd8	ENSG00000112983	bromodomain containing 8	chr5:137475455-137514675	The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]	Alzheimer's disease 	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004887;thyroid hormone receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/BRD8	https://www.uniprot.org/uniprot/Q9H0E9		https://www.ncbi.nlm.nih.gov/omim/?term=602848	http://www.informatics.jax.org/searchtool/Search.do?query=BRD8&submit=Quick%0D%4309ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD8	rs13155519	0.445288	0	0	1	0	0	intronic	intronic	intronic	BRD8	BRD8	ENSG00000112983	Na	Na	Na	Na	Na	Na	Het;G>A	181;4|7	Hom;G>A	491;1|18
N	N	-	5	137513369	137513369	G	GAA	indel	intronic	 	 	 	 	BRD8	Brd8	ENSG00000112983	bromodomain containing 8	chr5:137475455-137514675	The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]	Alzheimer's disease 	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004887;thyroid hormone receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/BRD8	https://www.uniprot.org/uniprot/Q9H0E9		https://www.ncbi.nlm.nih.gov/omim/?term=602848	http://www.informatics.jax.org/searchtool/Search.do?query=BRD8&submit=Quick%0D%4309ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD8	rs10671440	0	0	0.4320	1	0	0	intronic	intronic	intronic	BRD8	BRD8	ENSG00000112983	Na	Na	Na	Na	Na	Na	Het;+AA	329;25|19	Hom;+AA	723;2|28
N	N	-	5	13770757	13770757	C	CA	indel	intronic	 	 	 	 	DNAH5	Dnah5	ENSG00000039139	dynein axonemal heavy chain 5	chr5:13690440-13944652	This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]	Cholesterol, HDL; subclinical atherosclerosis traits (other); Asthenozoospermia|Kartagener Syndrome; Blood Pressure; Kartagener Syndrome; Potassium; Arteries; Rhinitis, Allergic, Seasonal; Lipoproteins, VLDL; Ankle Brachial Index	Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.		GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0008150;biological_process;ND|GO:0021670;lateral ventricle development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0060271;cilium assembly;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0036157;outer dynein arm;IDA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH5	https://www.uniprot.org/uniprot/Q8TE73	https://hpo.jax.org/app/browse/search?q=DNAH5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603335	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH5&submit=Quick%0D%808ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH5	rs138234449	0.64357	0	0	1	0	0	intronic	intronic	intronic	DNAH5	DNAH5	ENSG00000039139	Na	Na	Na	Na	Na	Na	Het;+A	97;3|5	Hom;+A	149;0|6
N	N	-	5	1380144	1380144	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01511																		rs10866501	0.458666	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01511	BC034612	ENSG00000250584	Na	Na	Na	Na	Na	Na	Het;A>G	1408;58|62	Hom;A>G	3329;0|76
N	N	-	5	138728533	138728533	C	T	snp	synonymous SNV	G2238A	E746E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PROB1	Prob1	ENSG00000228672	proline rich basic protein 1	chr5:138727635-138730885		Chromosome Deletion|Myelodysplastic Syndromes	 					http://www.genecards.org/index.php?path=/Search/keyword/PROB1				http://www.informatics.jax.org/searchtool/Search.do?query=PROB1&submit=Quick%0D%18852ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PROB1	rs10063870	0.576278	0	0.5094	1	0	0	exonic	exonic	exonic	PROB1	PROB1	ENSG00000228672	synonymous SNV	synonymous SNV	unknown	PROB1:NM_001161546:exon1:c.G2238A:p.E746E,	PROB1:uc011czc.1:exon1:c.G2238A:p.E746E,	UNKNOWN	Het;C>T	953;43|44	Hom;C>T	2144;0|74
N	N	-	5	138730037	138730037	T	C	snp	nonsynonymous SNV	A734G	Q245R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	PROB1	Prob1	ENSG00000228672	proline rich basic protein 1	chr5:138727635-138730885		Chromosome Deletion|Myelodysplastic Syndromes	 					http://www.genecards.org/index.php?path=/Search/keyword/PROB1				http://www.informatics.jax.org/searchtool/Search.do?query=PROB1&submit=Quick%0D%18852ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PROB1	rs11748963	0.354034	0	0.3089	0.64	7	11	exonic	exonic	exonic	PROB1	PROB1	ENSG00000228672	nonsynonymous SNV	nonsynonymous SNV	unknown	PROB1:NM_001161546:exon1:c.A734G:p.Q245R,	PROB1:uc011czc.1:exon1:c.A734G:p.Q245R,	UNKNOWN	Het;T>C	532;31|24	Hom;T>C	736;0|27
N	N	-	5	13911405	13911405	G	T	snp	intronic	 	 	 	 	DNAH5	Dnah5	ENSG00000039139	dynein axonemal heavy chain 5	chr5:13690440-13944652	This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]	Cholesterol, HDL; subclinical atherosclerosis traits (other); Asthenozoospermia|Kartagener Syndrome; Blood Pressure; Kartagener Syndrome; Potassium; Arteries; Rhinitis, Allergic, Seasonal; Lipoproteins, VLDL; Ankle Brachial Index	Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.		GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0008150;biological_process;ND|GO:0021670;lateral ventricle development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0060271;cilium assembly;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0036157;outer dynein arm;IDA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH5	https://www.uniprot.org/uniprot/Q8TE73	https://hpo.jax.org/app/browse/search?q=DNAH5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603335	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH5&submit=Quick%0D%808ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH5	rs3765045	0.297324	0	0	1	0	0	intronic	intronic	intronic	DNAH5	DNAH5	ENSG00000039139	Na	Na	Na	Na	Na	Na	Het;G>T	226;11|10	Hom;G>T	668;0|19
N	N	-	5	139536922	139536922	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101929719																		rs269767	0.667332	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101929719	IGIP(dist=28531),CR627225(dist=4616)	ENSG00000254363	Na	Na	Na	Na	Na	Na	Het;A>G	828;37|40	Hom;A>G	1760;0|68
N	N	-	5	139537032	139537032	G	T	snp	ncRNA_intronic	 	 	 	 	LOC101929719																		rs270164	0.396765	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101929719	IGIP(dist=28641),CR627225(dist=4506)	ENSG00000254363	Na	Na	Na	Na	Na	Na	Het;G>T	125;1|7	Hom;G>T	181;0|8
N	N	-	5	140516795	140516795	C	T	snp	synonymous SNV	C1779T	G593G	aliphatic,neutral	aliphatic,neutral	PCDHB5	Pcdhb10	ENSG00000113209	protocadherin beta 5	chr5:140514800-140517703	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]		 		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007416;synapse assembly;TAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDHB5	https://www.uniprot.org/uniprot/Q9Y5E4		https://www.ncbi.nlm.nih.gov/omim/?term=606331	http://www.informatics.jax.org/searchtool/Search.do?query=PCDHB5&submit=Quick%0D%4329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDHB5	rs246726	0.839457	0	0.8342	1	0	0	exonic	exonic	exonic	PCDHB5	PCDHB5	ENSG00000113209	synonymous SNV	synonymous SNV	unknown	PCDHB5:NM_015669:exon1:c.C1779T:p.G593G,	PCDHB5:uc003liq.3:exon1:c.C1779T:p.G593G,	UNKNOWN	Het;C>T	7878;320|354	Hom;C>T	18510;0|646
N	N	-	5	140517174	140517174	T	C	snp	nonsynonymous SNV	T2158C	S720P	polar,hydrophilic,neutral	hydrophobic,neutral	PCDHB5	Pcdhb10	ENSG00000113209	protocadherin beta 5	chr5:140514800-140517703	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]		 		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007416;synapse assembly;TAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDHB5	https://www.uniprot.org/uniprot/Q9Y5E4		https://www.ncbi.nlm.nih.gov/omim/?term=606331	http://www.informatics.jax.org/searchtool/Search.do?query=PCDHB5&submit=Quick%0D%4329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDHB5	rs400562	0.85024	0.8105	0.8362	1	0	0	exonic	exonic	exonic	PCDHB5	PCDHB5	ENSG00000113209	nonsynonymous SNV	nonsynonymous SNV	unknown	PCDHB5:NM_015669:exon1:c.T2158C:p.S720P,	PCDHB5:uc003liq.3:exon1:c.T2158C:p.S720P,	UNKNOWN	Het;T>C	9032;371|400	Hom;T>C	19292;4|685
N	N	-	5	140720516	140720516	C	G	snp	nonsynonymous SNV	C1978G	L660V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PCDHGA2	Pcdhga2	ENSG00000081853	protocadherin gamma subfamily A, 2	chr5:140718539-140892546	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	 		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDHGA2	https://www.uniprot.org/uniprot/Q9Y5H1		https://www.ncbi.nlm.nih.gov/omim/?term=606289	http://www.informatics.jax.org/searchtool/Search.do?query=PCDHGA2&submit=Quick%0D%1783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDHGA2	rs35592458	0.385982	0.3530	0.4697	0.08	1	12	exonic	exonic	exonic	PCDHGA2	PCDHGA2	ENSG00000081853	nonsynonymous SNV	nonsynonymous SNV	unknown	PCDHGA2:NM_032009:exon1:c.C1978G:p.L660V,PCDHGA2:NM_018915:exon1:c.C1978G:p.L660V,	PCDHGA2:uc003ljk.2:exon1:c.C1978G:p.L660V,PCDHGA2:uc011dao.2:exon1:c.C1978G:p.L660V,	UNKNOWN	Het;C>G	206;7|11	Hom;C>G	469;0|17
N	N	-	5	140787962	140787962	A	G	snp	nonsynonymous SNV	A193G	K65E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	PCDHGB6	Pcdhgb6	ENSG00000253305	protocadherin gamma subfamily B, 6	chr5:140787770-140892546	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]		 		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDHGB6			https://www.ncbi.nlm.nih.gov/omim/?term=606303	http://www.informatics.jax.org/searchtool/Search.do?query=PCDHGB6&submit=Quick%0D%20019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDHGB6	rs200317374	0.0177716	0.0039	0.0132	0.50	6	12	exonic	exonic	exonic	PCDHGB6	PCDHGB6	ENSG00000253305	nonsynonymous SNV	nonsynonymous SNV	unknown	PCDHGB6:NM_032100:exon1:c.A193G:p.K65E,PCDHGB6:NM_018926:exon1:c.A193G:p.K65E,	PCDHGB6:uc003lkj.2:exon1:c.A193G:p.K65E,PCDHGB6:uc003lki.1:exon1:c.A193G:p.K65E,	UNKNOWN	Het;A>G	3198;144|150	Hom;A>G	6633;3|246
N	N	-	5	140952996	140952996	C	T	snp	intronic	 	 	 	 	DIAPH1	Diaph1	ENSG00000131504	diaphanous related formin 1	chr5:140894583-140998622	This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Celiac Disease|	Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth.	Neutrophil degranulation	GO:0007010;cytoskeleton organization;IMP|GO:0007015;actin filament organization;IEA|GO:0007605;sensory perception of sound;TAS|GO:0008360;regulation of cell shape;IMP|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030041;actin filament polymerization;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0032886;regulation of microtubule-based process;IMP|GO:0035372;protein localization to microtubule;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IMP|GO:0071420;cellular response to histamine;IMP|GO:2000145;regulation of cell motility;TAS	GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0072686;mitotic spindle;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0005102;receptor binding;NAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IEA|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DIAPH1	https://www.uniprot.org/uniprot/O60610	https://hpo.jax.org/app/browse/search?q=DIAPH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602121	http://www.informatics.jax.org/searchtool/Search.do?query=DIAPH1&submit=Quick%0D%6556ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DIAPH1	rs183044866	0.0964457	0	0	1	0	0	intronic	intronic	intronic	DIAPH1	DIAPH1	ENSG00000131504	Na	Na	Na	Na	Na	Na	Het;C>T	107;1|5	Hom;C>T	143;0|6
N	N	-	5	140955777	140955777	C	T	snp	intronic	 	 	 	 	DIAPH1	Diaph1	ENSG00000131504	diaphanous related formin 1	chr5:140894583-140998622	This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Celiac Disease|	Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth.	Neutrophil degranulation	GO:0007010;cytoskeleton organization;IMP|GO:0007015;actin filament organization;IEA|GO:0007605;sensory perception of sound;TAS|GO:0008360;regulation of cell shape;IMP|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030041;actin filament polymerization;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0032886;regulation of microtubule-based process;IMP|GO:0035372;protein localization to microtubule;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IMP|GO:0071420;cellular response to histamine;IMP|GO:2000145;regulation of cell motility;TAS	GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0072686;mitotic spindle;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0005102;receptor binding;NAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IEA|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DIAPH1	https://www.uniprot.org/uniprot/O60610	https://hpo.jax.org/app/browse/search?q=DIAPH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602121	http://www.informatics.jax.org/searchtool/Search.do?query=DIAPH1&submit=Quick%0D%6556ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DIAPH1	rs2302103	0.640974	0.6811	0.6260	1	0	0	intronic	intronic	intronic	DIAPH1	DIAPH1	ENSG00000131504	Na	Na	Na	Na	Na	Na	Het;C>T	655;22|31	Hom;C>T	632;0|25
N	N	-	5	141005687	141005687	A	G	snp	ncRNA_exonic	 	 	 	 	AC008781.1																		rs2547547	0.115216	0.1146	0.1145	1	0	0	intronic	intronic	ncRNA_exonic	HDAC3	HDAC3	ENSG00000228737	Na	Na	Na	Na	Na	Na	Het;A>G	726;47|34	Hom;A>G	2180;0|74
N	N	-	5	141014494	141014494	T	C	snp	synonymous SNV	A165G	Q55Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HDAC3	Hdac3	ENSG00000171720	histone deacetylase 3	chr5:141000443-141016437	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]	Schizophrenia; Carcinoma, Hepatocellular|Liver carcinoma|Recurrence; bronchodilator response; Bone Mineral Density	Disruption of this gene results in embryonic death at or around the time of gastrulation.  Structural and functional abnormalities are also reported in mitochondria.	Regulation of PTEN gene transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0031647;regulation of protein stability;IDA|GO:0032008;positive regulation of TOR signaling;IMP|GO:0042993;positive regulation of transcription factor import into nucleus;IDA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046329;negative regulation of JNK cascade;IMP|GO:0051225;spindle assembly;IMP|GO:0070932;histone H3 deacetylation;IEA|GO:0071498;cellular response to fluid shear stress;IDA	GO:0000118;histone deacetylase complex;TAS|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0003682;chromatin binding;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0030332;cyclin binding;IPI|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0051059;NF-kappaB binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HDAC3			https://www.ncbi.nlm.nih.gov/omim/?term=605166	http://www.informatics.jax.org/searchtool/Search.do?query=HDAC3&submit=Quick%0D%12992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC3	rs2530223	0.639776	0.6832	0.6253	1	0	0	exonic	exonic	exonic	HDAC3	HDAC3	ENSG00000171720	synonymous SNV	synonymous SNV	unknown	HDAC3:NM_003883:exon3:c.A165G:p.Q55Q,	HDAC3:uc003llf.2:exon3:c.A165G:p.Q55Q,	UNKNOWN	Het;T>C	1140;95|57	Hom;T>C	3784;0|137
N	N	-	5	141016288	141016288	T	G	snp	intronic	 	 	 	 	HDAC3	Hdac3	ENSG00000171720	histone deacetylase 3	chr5:141000443-141016437	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]	Schizophrenia; Carcinoma, Hepatocellular|Liver carcinoma|Recurrence; bronchodilator response; Bone Mineral Density	Disruption of this gene results in embryonic death at or around the time of gastrulation.  Structural and functional abnormalities are also reported in mitochondria.	Regulation of PTEN gene transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0031647;regulation of protein stability;IDA|GO:0032008;positive regulation of TOR signaling;IMP|GO:0042993;positive regulation of transcription factor import into nucleus;IDA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046329;negative regulation of JNK cascade;IMP|GO:0051225;spindle assembly;IMP|GO:0070932;histone H3 deacetylation;IEA|GO:0071498;cellular response to fluid shear stress;IDA	GO:0000118;histone deacetylase complex;TAS|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0017053;transcriptional repressor complex;IDA	GO:0003682;chromatin binding;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0030332;cyclin binding;IPI|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0051059;NF-kappaB binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HDAC3			https://www.ncbi.nlm.nih.gov/omim/?term=605166	http://www.informatics.jax.org/searchtool/Search.do?query=HDAC3&submit=Quick%0D%12992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC3	rs1421896	0.65635	0.6985	0.6339	1	0	0	intronic	intronic	intronic	HDAC3	HDAC3	ENSG00000171720	Na	Na	Na	Na	Na	Na	Het;T>G	1117;53|55	Hom;T>G	3937;0|94
N	N	-	5	141019324	141019324	G	A	snp	UTR3	*1741C>T	 	 	 	FCHSD1	Fchsd1	ENSG00000197948	FCH and double SH3 domains 1	chr5:141018869-141030986		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007274;neuromuscular synaptic transmission;IBA|GO:0030833;regulation of actin filament polymerization;IBA	GO:0031594;neuromuscular junction;IBA|GO:0055037;recycling endosome;IBA		http://www.genecards.org/index.php?path=/Search/keyword/FCHSD1				http://www.informatics.jax.org/searchtool/Search.do?query=FCHSD1&submit=Quick%0D%16763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCHSD1	rs73285814	0.249401	0	0	1	0	0	UTR3	UTR3	UTR3	FCHSD1(NM_033449:c.*1741C>T)	FCHSD1(uc010jgg.3:c.*1741C>T,uc003llk.3:c.*1741C>T)	ENSG00000197948(ENST00000435817:c.*1741C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	106;3|4	Hom;G>A	622;1|20
N	N	-	5	141019569	141019569	G	C	snp	nonsynonymous SNV	G586C	G196R	aliphatic,neutral	polar,hydrophilic,charged(+)	RELL2	Rell2	ENSG00000164620	RELT like 2	chr5:141016517-141020644			 		GO:0010811;positive regulation of cell-substrate adhesion;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RELL2			https://www.ncbi.nlm.nih.gov/omim/?term=611213	http://www.informatics.jax.org/searchtool/Search.do?query=RELL2&submit=Quick%0D%11347ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELL2	rs17855844	0.183906	0.1752	0.2037	0.31	4	13	exonic	exonic	exonic	RELL2	RELL2	ENSG00000164620	nonsynonymous SNV	nonsynonymous SNV	unknown	RELL2:NM_001130029:exon6:c.G586C:p.G196R,RELL2:NM_173828:exon5:c.G586C:p.G196R,	RELL2:uc003llh.3:exon5:c.G586C:p.G196R,RELL2:uc003lli.3:exon6:c.G586C:p.G196R,	UNKNOWN	Het;G>C	1559;66|67	Hom;G>C	3250;0|113
N	N	-	5	141019830	141019830	C	G	snp	nonsynonymous SNV	C847G	Q283E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	RELL2	Rell2	ENSG00000164620	RELT like 2	chr5:141016517-141020644			 		GO:0010811;positive regulation of cell-substrate adhesion;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RELL2			https://www.ncbi.nlm.nih.gov/omim/?term=611213	http://www.informatics.jax.org/searchtool/Search.do?query=RELL2&submit=Quick%0D%11347ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELL2	rs11742646	0	0.1773	0.2028	0.38	5	13	exonic	exonic	exonic	RELL2	RELL2	ENSG00000164620	nonsynonymous SNV	nonsynonymous SNV	unknown	RELL2:NM_001130029:exon6:c.C847G:p.Q283E,RELL2:NM_173828:exon5:c.C847G:p.Q283E,	RELL2:uc003llh.3:exon5:c.C847G:p.Q283E,RELL2:uc003lli.3:exon6:c.C847G:p.Q283E,	UNKNOWN	Het;C>G	1156;66|57	Hom;C>G	4156;3|151
N	N	-	5	141025929	141025929	A	G	snp	UTR5	-78T>C	 	 	 	FCHSD1	Fchsd1	ENSG00000197948	FCH and double SH3 domains 1	chr5:141018869-141030986		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007274;neuromuscular synaptic transmission;IBA|GO:0030833;regulation of actin filament polymerization;IBA	GO:0031594;neuromuscular junction;IBA|GO:0055037;recycling endosome;IBA		http://www.genecards.org/index.php?path=/Search/keyword/FCHSD1				http://www.informatics.jax.org/searchtool/Search.do?query=FCHSD1&submit=Quick%0D%16763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCHSD1	rs7711960	0.286142	0	0	1	0	0	intronic	UTR5	UTR5	FCHSD1	FCHSD1(uc010jgg.3:c.-78T>C)	ENSG00000197948(ENST00000518499:c.-78T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	40;2|2	Hom;A>G	205;0|6
N	N	-	5	141027462	141027462	G	A	snp	UTR3	*4C>T	 	 	 	FCHSD1	Fchsd1	ENSG00000197948	FCH and double SH3 domains 1	chr5:141018869-141030986		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007274;neuromuscular synaptic transmission;IBA|GO:0030833;regulation of actin filament polymerization;IBA	GO:0031594;neuromuscular junction;IBA|GO:0055037;recycling endosome;IBA		http://www.genecards.org/index.php?path=/Search/keyword/FCHSD1				http://www.informatics.jax.org/searchtool/Search.do?query=FCHSD1&submit=Quick%0D%16763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCHSD1	rs3763121	0.240815	0	0.3630	1	0	0	intronic	intronic	UTR3	FCHSD1	FCHSD1	ENSG00000197948(ENST00000519800:c.*4C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	167;13|9	Hom;G>A	412;0|14
N	N	-	5	141030846	141030846	G	C	snp	intronic	 	 	 	 	FCHSD1	Fchsd1	ENSG00000197948	FCH and double SH3 domains 1	chr5:141018869-141030986		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007274;neuromuscular synaptic transmission;IBA|GO:0030833;regulation of actin filament polymerization;IBA	GO:0031594;neuromuscular junction;IBA|GO:0055037;recycling endosome;IBA		http://www.genecards.org/index.php?path=/Search/keyword/FCHSD1				http://www.informatics.jax.org/searchtool/Search.do?query=FCHSD1&submit=Quick%0D%16763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCHSD1	rs73285828	0.130591	0.1358	0	1	0	0	intronic	intronic	intronic	FCHSD1	FCHSD1	ENSG00000197948	Na	Na	Na	Na	Na	Na	Het;G>C	318;20|16	Hom;G>C	572;0|21
N	N	-	5	141035174	141035174	G	C	snp	intronic	 	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs79464052	0.0848642	0.0797	0.0728	1	0	0	intronic	intronic	intronic	ARAP3	ARAP3	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;G>C	1267;51|56	Hom;G>C	3148;1|107
N	N	-	5	141035248	141035248	A	G	snp	synonymous SNV	T3036C	P1012P	hydrophobic,neutral	hydrophobic,neutral	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs2306340	0.0696885	0.0618	0.0677	1	0	0	exonic	exonic	exonic	ARAP3	ARAP3	ENSG00000120318	synonymous SNV	synonymous SNV	unknown	ARAP3:NM_022481:exon31:c.T4050C:p.P1350P,	ARAP3:uc011dbe.2:exon25:c.T3036C:p.P1012P,ARAP3:uc003lln.3:exon30:c.T3543C:p.P1181P,ARAP3:uc003lll.3:exon14:c.T903C:p.P301P,ARAP3:uc003llm.3:exon31:c.T4050C:p.P1350P,	UNKNOWN	Het;A>G	1705;72|77	Hom;A>G	3662;0|128
N	N	-	5	141035955	141035955	G	A	snp	intronic	 	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs2306339	0.232628	0	0	1	0	0	intronic	intronic	intronic	ARAP3	ARAP3	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;G>A	255;13|11	Hom;G>A	791;0|26
N	N	-	5	141041435	141041435	G	A	snp	UTR5	-1970C>T	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs3749759	0.707668	0	0	1	0	0	intronic	UTR5	intronic	ARAP3	ARAP3(uc003lll.3:c.-1970C>T)	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;G>A	216;9|9	Hom;G>A	615;0|22
N	N	-	5	141049407	141049407	G	A	snp	intronic	 	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs3763120	0.421126	0.4110	0.4520	1	0	0	intronic	intronic	intronic	ARAP3	ARAP3	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;G>A	759;21|31	Hom;G>A	1295;0|45
N	N	-	5	141049656	141049656	A	G	snp	intronic	 	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs73285857	0.0800719	0.0709	0.0717	1	0	0	intronic	intronic	intronic	ARAP3	ARAP3	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;A>G	193;16|11	Hom;A>G	469;0|17
N	N	-	5	141049907	141049907	C	T	snp	intronic	 	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs57197637	0.0796725	0	0	1	0	0	intronic	intronic	intronic	ARAP3	ARAP3	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;C>T	67;2|3	Hom;C>T	58;0|3
N	N	-	5	141052416	141052416	G	T	snp	synonymous SNV	C156A	P52P	hydrophobic,neutral	hydrophobic,neutral	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs1057371	0.0870607	0.0887	0.1042	1	0	0	exonic	exonic	exonic	ARAP3	ARAP3	ENSG00000120318	synonymous SNV	synonymous SNV	unknown	ARAP3:NM_022481:exon8:c.C1170A:p.P390P,	ARAP3:uc011dbe.2:exon2:c.C156A:p.P52P,ARAP3:uc003lln.3:exon8:c.C936A:p.P312P,ARAP3:uc003llo.1:exon7:c.C1170A:p.P390P,ARAP3:uc003llm.3:exon8:c.C1170A:p.P390P,	UNKNOWN	Het;G>T	1368;38|63	Hom;G>T	2283;1|86
N	N	-	5	141052870	141052870	G	C	snp	intronic	 	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs440279	0.71885	0	0	1	0	0	intronic	intronic	intronic	ARAP3	ARAP3	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;G>C	108;6|5	Hom;G>C	326;1|12
N	N	-	5	141059054	141059054	A	G	snp	intronic	 	 	 	 	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs78410200	0.0553115	0	0	1	0	0	intronic	intronic	intronic	ARAP3	ARAP3	ENSG00000120318	Na	Na	Na	Na	Na	Na	Het;A>G	195;20|12	Hom;A>G	667;0|23
N	N	-	5	141059868	141059868	T	C	snp	synonymous SNV	A186G	L62L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARAP3	Arap3	ENSG00000120318	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	chr5:141032968-141061788	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]	C-Reactive Protein; Coronary Artery Disease	Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects.	Rho GTPase cycle	GO:0007010;cytoskeleton organization;TAS|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0030336;negative regulation of cell migration;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARAP3	https://www.uniprot.org/uniprot/Q8WWN8		https://www.ncbi.nlm.nih.gov/omim/?term=606647	http://www.informatics.jax.org/searchtool/Search.do?query=ARAP3&submit=Quick%0D%5193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP3	rs11167756	0.465655	0.4283	0.4516	1	0	0	exonic	exonic	exonic	ARAP3	ARAP3	ENSG00000120318	synonymous SNV	synonymous SNV	unknown	ARAP3:NM_022481:exon2:c.A186G:p.L62L,	ARAP3:uc003llo.1:exon1:c.A186G:p.L62L,ARAP3:uc003llm.3:exon2:c.A186G:p.L62L,	UNKNOWN	Het;T>C	1186;81|56	Hom;T>C	3143;4|109
N	N	-	5	141243646	141243646	A	G	snp	synonymous SNV	T2250C	A750A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PCDH1	Pcdh1	ENSG00000156453	protocadherin 1	chr5:141232938-141258811	This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]		 		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;TAS	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCDH1	https://www.uniprot.org/uniprot/Q08174		https://www.ncbi.nlm.nih.gov/omim/?term=603626	http://www.informatics.jax.org/searchtool/Search.do?query=PCDH1&submit=Quick%0D%9980ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH1	rs3797054	0.420727	0.3379	0.3915	1	0	0	exonic	exonic	exonic	PCDH1	PCDH1	ENSG00000156453	synonymous SNV	synonymous SNV	unknown	PCDH1:NM_001278615:exon2:c.T1113C:p.A371A,PCDH1:NM_002587:exon3:c.T2250C:p.A750A,PCDH1:NM_032420:exon3:c.T2250C:p.A750A,PCDH1:NM_001278613:exon3:c.T2298C:p.A766A,	PCDH1:uc003llq.3:exon3:c.T2250C:p.A750A,PCDH1:uc011dbf.2:exon3:c.T2184C:p.A728A,PCDH1:uc003llp.3:exon3:c.T2250C:p.A750A,	UNKNOWN	Het;A>G	1336;62|60	Hom;A>G	2782;3|101
N	N	-	5	14194007	14194009	CGT	C	indel	intronic	 	 	 	 	TRIO	Trio	ENSG00000038382	trio Rho guanine nucleotide exchange factor	chr5:14143811-14532235	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	coronary spastic angina; Breath Tests; Tobacco Use Disorder; Blood Vessels	Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.	DCC mediated attractive signaling	GO:0006468;protein phosphorylation;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIO	https://www.uniprot.org/uniprot/O75962	https://hpo.jax.org/app/browse/search?q=TRIO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601893	http://www.informatics.jax.org/searchtool/Search.do?query=TRIO&submit=Quick%0D%802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIO	rs1160965	0.373403	0	0	1	0	0	intronic	intronic	intronic	TRIO	TRIO	ENSG00000038382	Na	Na	Na	Na	Na	Na	Het;-GT	2181;90|60	Hom;-GT	4767;0|108
N	N	-	5	142435748	142435748	G	A	snp	intronic	 	 	 	 	ARHGAP26	Arhgap26	ENSG00000145819	Rho GTPase activating protein 26	chr5:142149949-142608576	Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Body Height; Peroxidase; Triglycerides; Uric Acid; Diabetes Mellitus, Type 2; Neuroblastoma; Tobacco Use Disorder	Mice homozygous for a hypomorphic allele display reduced myofiber size, impaired myoblast fusion and abnormal muscle regeneration.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IEA|GO:0030054;cell junction;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP26	https://www.uniprot.org/uniprot/Q9UNA1	https://hpo.jax.org/app/browse/search?q=ARHGAP26&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605370	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP26&submit=Quick%0D%8788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP26	rs6580266	0.682508	0	0	1	0	0	intronic	intronic	intronic	ARHGAP26	ARHGAP26	ENSG00000145819	Na	Na	Na	Na	Na	Na	Het;G>A	172;3|7	Hom;G>A	463;0|17
N	N	-	5	142500828	142500828	C	T	snp	intronic	 	 	 	 	ARHGAP26	Arhgap26	ENSG00000145819	Rho GTPase activating protein 26	chr5:142149949-142608576	Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Body Height; Peroxidase; Triglycerides; Uric Acid; Diabetes Mellitus, Type 2; Neuroblastoma; Tobacco Use Disorder	Mice homozygous for a hypomorphic allele display reduced myofiber size, impaired myoblast fusion and abnormal muscle regeneration.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IEA|GO:0030054;cell junction;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP26	https://www.uniprot.org/uniprot/Q9UNA1	https://hpo.jax.org/app/browse/search?q=ARHGAP26&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605370	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP26&submit=Quick%0D%8788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP26	rs10045199	0.252196	0	0	1	0	0	intronic	intronic	intronic	ARHGAP26	ARHGAP26	ENSG00000145819	Na	Na	Na	Na	Na	Na	Het;C>T	65;2|3	Hom;C>T	215;0|7
N	N	-	5	14290805	14290805	G	A	snp	intronic	 	 	 	 	TRIO	Trio	ENSG00000038382	trio Rho guanine nucleotide exchange factor	chr5:14143811-14532235	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	coronary spastic angina; Breath Tests; Tobacco Use Disorder; Blood Vessels	Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.	DCC mediated attractive signaling	GO:0006468;protein phosphorylation;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIO	https://www.uniprot.org/uniprot/O75962	https://hpo.jax.org/app/browse/search?q=TRIO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601893	http://www.informatics.jax.org/searchtool/Search.do?query=TRIO&submit=Quick%0D%802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIO	rs30629	0.410743	0.4419	0.5072	1	0	0	intronic	intronic	intronic	TRIO	TRIO	ENSG00000038382	Na	Na	Na	Na	Na	Na	Het;G>A	489;17|21	Hom;G>A	802;0|29
N	N	-	5	143250182	143250182	C	G	snp	intergenic	 	 	 	 	AC008696.2																		rs1421777	0.423722	0	0	1	0	0	intergenic	intergenic	intergenic	HMHB1(dist=49898),YIPF5(dist=287541)	HMHB1(dist=49898),Metazoa_SRP(dist=270262)	ENSG00000249881(dist=41845),ENSG00000239390(dist=270262)	Na	Na	Na	Na	Na	Na	Het;C>G	495;35|25	Hom;C>G	1256;0|43
N	N	-	5	14479938	14479938	G	A	snp	intronic	 	 	 	 	TRIO	Trio	ENSG00000038382	trio Rho guanine nucleotide exchange factor	chr5:14143811-14532235	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	coronary spastic angina; Breath Tests; Tobacco Use Disorder; Blood Vessels	Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.	DCC mediated attractive signaling	GO:0006468;protein phosphorylation;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIO	https://www.uniprot.org/uniprot/O75962	https://hpo.jax.org/app/browse/search?q=TRIO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601893	http://www.informatics.jax.org/searchtool/Search.do?query=TRIO&submit=Quick%0D%802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIO	rs26173	0.833466	0	0	1	0	0	intronic	intronic	intronic	TRIO	TRIO	ENSG00000038382	Na	Na	Na	Na	Na	Na	Het;G>A	187;1|7	Hom;G>A	213;0|7
N	N	-	5	14546241	14546241	T	C	snp	intergenic	 	 	 	 	TRIO	Trio	ENSG00000038382	trio Rho guanine nucleotide exchange factor	chr5:14143811-14532235	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	coronary spastic angina; Breath Tests; Tobacco Use Disorder; Blood Vessels	Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.	DCC mediated attractive signaling	GO:0006468;protein phosphorylation;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIO	https://www.uniprot.org/uniprot/O75962	https://hpo.jax.org/app/browse/search?q=TRIO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601893	http://www.informatics.jax.org/searchtool/Search.do?query=TRIO&submit=Quick%0D%802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIO	rs408042	0.651158	0	0	1	0	0	intergenic	intergenic	intergenic	TRIO(dist=36783),FAM105A(dist=35650)	TRIO(dist=36783),FAM105A(dist=35650)	ENSG00000038382(dist=14006),ENSG00000145569(dist=35643)	Na	Na	Na	Na	Na	Na	Het;T>C	929;37|41	Hom;T>C	2612;1|96
N	N	-	5	14546351	14546351	G	C	snp	intergenic	 	 	 	 	TRIO	Trio	ENSG00000038382	trio Rho guanine nucleotide exchange factor	chr5:14143811-14532235	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	coronary spastic angina; Breath Tests; Tobacco Use Disorder; Blood Vessels	Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.	DCC mediated attractive signaling	GO:0006468;protein phosphorylation;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIO	https://www.uniprot.org/uniprot/O75962	https://hpo.jax.org/app/browse/search?q=TRIO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601893	http://www.informatics.jax.org/searchtool/Search.do?query=TRIO&submit=Quick%0D%802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIO	rs12660018	0.223043	0	0	1	0	0	intergenic	intergenic	intergenic	TRIO(dist=36893),FAM105A(dist=35540)	TRIO(dist=36893),FAM105A(dist=35540)	ENSG00000038382(dist=14116),ENSG00000145569(dist=35533)	Na	Na	Na	Na	Na	Na	Het;G>C	80;5|3	Hom;G>C	460;0|11
N	N	-	5	14546358	14546362	CGTGT	C	indel	intergenic	 	 	 	 	TRIO	Trio	ENSG00000038382	trio Rho guanine nucleotide exchange factor	chr5:14143811-14532235	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	coronary spastic angina; Breath Tests; Tobacco Use Disorder; Blood Vessels	Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.	DCC mediated attractive signaling	GO:0006468;protein phosphorylation;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIO	https://www.uniprot.org/uniprot/O75962	https://hpo.jax.org/app/browse/search?q=TRIO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601893	http://www.informatics.jax.org/searchtool/Search.do?query=TRIO&submit=Quick%0D%802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIO	rs145256474	0	0	0	1	0	0	intergenic	intergenic	intergenic	TRIO(dist=36900),FAM105A(dist=35529)	TRIO(dist=36900),FAM105A(dist=35529)	ENSG00000038382(dist=14123),ENSG00000145569(dist=35522)	Na	Na	Na	Na	Na	Na	Het;-GTGT	71;5|3	Hom;-GTGT	451;0|11
N	N	-	5	146030055	146030055	C	T	snp	intronic	 	 	 	 	PPP2R2B	Ppp2r2b	ENSG00000156475	protein phosphatase 2 regulatory subunit Bbeta	chr5:145967936-146464347	The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]	Genomic Instability|Spinocerebellar Ataxias; schizophrenia; Alcoholism; Cerebellar Ataxia|; Alcohol dependence; Fibrinogen; Heart Failure; Blood Flow Velocity; Electrocardiography; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, HDL; smoking cessation; Osteoporosis; Alzheimer Disease|Essential Tremor; Tobacco Use Disorder; Apolipoprotein A-I; Vitamin K; Coronary Artery Disease; Heart Rate; Neuropsychological Tests	 		GO:0000278;mitotic cell cycle;IBA|GO:0006915;apoptotic process;IEA|GO:0032502;developmental process;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:0070262;peptidyl-serine dephosphorylation;IBA	GO:0000159;protein phosphatase type 2A complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;IBA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA	GO:0004722;protein serine/threonine phosphatase activity;IBA|GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PPP2R2B	https://www.uniprot.org/uniprot/Q00005	https://hpo.jax.org/app/browse/search?q=PPP2R2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604325	http://www.informatics.jax.org/searchtool/Search.do?query=PPP2R2B&submit=Quick%0D%9986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP2R2B	rs6866598	0.750599	0	0	1	0	0	intronic	intronic	intronic	PPP2R2B	PPP2R2B	ENSG00000156475	Na	Na	Na	Na	Na	Na	Het;C>T	205;6|9	Hom;C>T	225;0|9
N	N	-	5	146560716	146560716	C	A	snp	ncRNA_intronic	 	 	 	 	AC011338.1																		rs11745608	0.320687	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	PPP2R2B(dist=99633),STK32A(dist=53863)	PPP2R2B(dist=99633),STK32A(dist=53863)	ENSG00000250343	Na	Na	Na	Na	Na	Na	Het;C>A	295;8|11	Hom;C>A	658;0|22
N	N	-	5	1471109	1471109	T	C	snp	intronic	 	 	 	 	LPCAT1	Lpcat1	ENSG00000275079	lysophosphatidylcholine acyltransferase 1	chr5:1456595-1524092	This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]	Forced Expiratory Volume; Alcoholism; Myocardial Infarction	Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function.		GO:0008152;metabolic process;IEA		GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1			https://www.ncbi.nlm.nih.gov/omim/?term=610472	http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1	rs27054	0.829273	0	0	1	0	0	intronic	intronic	intronic	LPCAT1	LPCAT1	ENSG00000153395	Na	Na	Na	Na	Na	Na	Het;T>C	237;7|11	Hom;T>C	523;0|19
N	N	-	5	1473977	1473977	A	G	snp	intronic	 	 	 	 	LPCAT1	Lpcat1	ENSG00000275079	lysophosphatidylcholine acyltransferase 1	chr5:1456595-1524092	This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]	Forced Expiratory Volume; Alcoholism; Myocardial Infarction	Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function.		GO:0008152;metabolic process;IEA		GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1			https://www.ncbi.nlm.nih.gov/omim/?term=610472	http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1	rs27056	0.833067	0	0	1	0	0	intronic	intronic	intronic	LPCAT1	LPCAT1	ENSG00000153395	Na	Na	Na	Na	Na	Na	Het;A>G	357;10|14	Hom;A>G	716;0|25
N	N	-	5	147498763	147498763	C	A	snp	intronic	 	 	 	 	SPINK5	Spink5	ENSG00000133710	serine peptidase inhibitor, Kazal type 5	chr5:147405246-147516852	This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds	Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.	Formation of the cornified envelope	GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPINK5	https://www.uniprot.org/uniprot/Q9NQ38	https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605010	http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5	rs9325075	0.83766	0	0	1	0	0	intronic	intronic	intronic	SPINK5	SPINK5	ENSG00000133710	Na	Na	Na	Na	Na	Na	Het;C>A	63;2|3	Hom;C>A	150;0|5
N	N	-	5	147902972	147902972	G	A	snp	intronic	 	 	 	 	HTR4	Htr4	ENSG00000164270	5-hydroxytryptamine receptor 4	chr5:147830595-148056798	This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]	bipolar disorder; attention deficit hyperactivity disorder behavior disorder; Hip; Urinalysis; Cholesterol, LDL; C-Reactive Protein; normal variation; Respiratory Function Tests; Bipolar Disorder; Tissue Plasminogen Activator; Pulmonary Disease, Chronic Obstructive; attention deficit hyperactivity disorder; ADHD | attention-deficit hyperactivity disorder; Fatigue Syndrome, Chronic; Lung Diseases; Body Weight; Fatigue|Fatigue Syndrome, Chronic; pulmonary function; migraine ; null; Weight Gain; several psychiatric disorders; schizophrenia	Homozygous mutant mice exhibit attenuated feeding behavior following stress and novelty and show a hypersensitivity to seizures.	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IBA|GO:0007268;chemical synaptic transmission;IEA|GO:0032098;regulation of appetite;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0001594;trace-amine receptor activity;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HTR4			https://www.ncbi.nlm.nih.gov/omim/?term=602164	http://www.informatics.jax.org/searchtool/Search.do?query=HTR4&submit=Quick%0D%11259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR4	rs2277050	0.207867	0	0	1	0	0	intronic	intronic	intronic	HTR4	HTR4	ENSG00000164270	Na	Na	Na	Na	Na	Na	Het;G>A	316;9|13	Hom;G>A	655;0|23
N	N	-	5	147928130	147928130	T	C	snp	intronic	 	 	 	 	HTR4	Htr4	ENSG00000164270	5-hydroxytryptamine receptor 4	chr5:147830595-148056798	This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]	bipolar disorder; attention deficit hyperactivity disorder behavior disorder; Hip; Urinalysis; Cholesterol, LDL; C-Reactive Protein; normal variation; Respiratory Function Tests; Bipolar Disorder; Tissue Plasminogen Activator; Pulmonary Disease, Chronic Obstructive; attention deficit hyperactivity disorder; ADHD | attention-deficit hyperactivity disorder; Fatigue Syndrome, Chronic; Lung Diseases; Body Weight; Fatigue|Fatigue Syndrome, Chronic; pulmonary function; migraine ; null; Weight Gain; several psychiatric disorders; schizophrenia	Homozygous mutant mice exhibit attenuated feeding behavior following stress and novelty and show a hypersensitivity to seizures.	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IBA|GO:0007268;chemical synaptic transmission;IEA|GO:0032098;regulation of appetite;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0001594;trace-amine receptor activity;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HTR4			https://www.ncbi.nlm.nih.gov/omim/?term=602164	http://www.informatics.jax.org/searchtool/Search.do?query=HTR4&submit=Quick%0D%11259ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR4	rs13171326	0.199281	0	0	1	0	0	intronic	intronic	intronic	HTR4	HTR4	ENSG00000164270	Na	Na	Na	Na	Na	Na	Het;T>C	178;5|6	Hom;T>C	335;0|9
N	N	-	5	1479678	1479678	G	C	snp	intronic	 	 	 	 	LPCAT1	Lpcat1	ENSG00000275079	lysophosphatidylcholine acyltransferase 1	chr5:1456595-1524092	This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]	Forced Expiratory Volume; Alcoholism; Myocardial Infarction	Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function.		GO:0008152;metabolic process;IEA		GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1			https://www.ncbi.nlm.nih.gov/omim/?term=610472	http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1	rs27059	0.807308	0.7696	0	1	0	0	intronic	intronic	intronic	LPCAT1	LPCAT1	ENSG00000153395	Na	Na	Na	Na	Na	Na	Het;G>C	173;11|8	Hom;G>C	1017;0|33
N	N	-	5	148307682	148307682	A	T	snp	intronic	 	 	 	 	SH3TC2	Sh3tc2	ENSG00000169247	SH3 domain and tetratricopeptide repeats 2	chr5:148303202-148442726	This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping.		GO:0022011;myelination in peripheral nervous system;IEA|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0033157;regulation of intracellular protein transport;IEA|GO:1901184;regulation of ERBB signaling pathway;IEA	GO:0005886;plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SH3TC2		https://hpo.jax.org/app/browse/search?q=SH3TC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608206	http://www.informatics.jax.org/searchtool/Search.do?query=SH3TC2&submit=Quick%0D%12455ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3TC2	rs741145	0.204273	0	0	1	0	0	intergenic	intergenic	intronic	ADRB2(dist=99485),SH3TC2(dist=54031)	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000169247	Na	Na	Na	Na	Na	Na	Het;A>T	295;14|15	Hom;A>T	613;0|24
N	N	-	5	148389763	148389763	G	A	snp	intronic	 	 	 	 	SH3TC2	Sh3tc2	ENSG00000169247	SH3 domain and tetratricopeptide repeats 2	chr5:148303202-148442726	This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping.		GO:0022011;myelination in peripheral nervous system;IEA|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0033157;regulation of intracellular protein transport;IEA|GO:1901184;regulation of ERBB signaling pathway;IEA	GO:0005886;plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SH3TC2		https://hpo.jax.org/app/browse/search?q=SH3TC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608206	http://www.informatics.jax.org/searchtool/Search.do?query=SH3TC2&submit=Quick%0D%12455ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3TC2	rs1025476	0.377596	0	0	1	0	0	intronic	intronic	intronic	SH3TC2	SH3TC2	ENSG00000169247	Na	Na	Na	Na	Na	Na	Het;G>A	269;10|12	Hom;G>A	581;0|21
N	N	-	5	148408101	148408101	A	G	snp	synonymous SNV	T1173C	G391G	aliphatic,neutral	aliphatic,neutral	SH3TC2	Sh3tc2	ENSG00000169247	SH3 domain and tetratricopeptide repeats 2	chr5:148303202-148442726	This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping.		GO:0022011;myelination in peripheral nervous system;IEA|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0033157;regulation of intracellular protein transport;IEA|GO:1901184;regulation of ERBB signaling pathway;IEA	GO:0005886;plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SH3TC2		https://hpo.jax.org/app/browse/search?q=SH3TC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608206	http://www.informatics.jax.org/searchtool/Search.do?query=SH3TC2&submit=Quick%0D%12455ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3TC2	rs1432793	0.437101	0.4847	0.4456	1	0	0	exonic	exonic	exonic	SH3TC2	SH3TC2	ENSG00000169247	synonymous SNV	synonymous SNV	unknown	SH3TC2:NM_024577:exon11:c.T1194C:p.G398G,	SH3TC2:uc010jgx.3:exon11:c.T1173C:p.G391G,SH3TC2:uc003lpu.3:exon11:c.T1194C:p.G398G,SH3TC2:uc011dbz.1:exon12:c.T849C:p.G283G,SH3TC2:uc010jgw.3:exon2:c.T126C:p.G42G,	UNKNOWN	Het;A>G	1260;67|55	Hom;A>G	2770;0|93
N	N	-	5	148578636	148578636	T	C	snp	nonsynonymous SNV	T310C	C104R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	ABLIM3	Ablim3	ENSG00000173210	actin binding LIM protein family member 3	chr5:148521046-148640105	This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]	Socioeconomic Factors; Echocardiography	 	DCC mediated attractive signaling	GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030032;lamellipodium assembly;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060271;cilium assembly;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030027;lamellipodium;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABLIM3			https://www.ncbi.nlm.nih.gov/omim/?term=611305	http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM3&submit=Quick%0D%13311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM3	rs13362048	0.527556	0	0.6278	1	0	0	exonic	exonic	exonic	ABLIM3	ABLIM3	ENSG00000173210	nonsynonymous SNV	nonsynonymous SNV	unknown	ABLIM3:NM_001301027:exon4:c.T310C:p.C104R,	ABLIM3:uc003lqa.1:exon4:c.T310C:p.C104R,	UNKNOWN	Het;T>C	872;69|43	Hom;T>C	2717;0|104
N	N	-	5	148679301	148679301	C	G	snp	intronic	 	 	 	 	AFAP1L1	Afap1l1	ENSG00000157510	actin filament associated protein 1 like 1	chr5:148651434-148721365		Cholesterol, LDL	 			GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0071437;invadopodium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L1			https://www.ncbi.nlm.nih.gov/omim/?term=614410	http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L1&submit=Quick%0D%10101ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L1	rs171286	0.764177	0	0	1	0	0	intronic	intronic	intronic	AFAP1L1	AFAP1L1	ENSG00000157510	Na	Na	Na	Na	Na	Na	Het;C>G	185;5|6	Hom;C>G	361;0|11
N	N	-	5	148682188	148682188	G	C	snp	intronic	 	 	 	 	AFAP1L1	Afap1l1	ENSG00000157510	actin filament associated protein 1 like 1	chr5:148651434-148721365		Cholesterol, LDL	 			GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0071437;invadopodium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L1			https://www.ncbi.nlm.nih.gov/omim/?term=614410	http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L1&submit=Quick%0D%10101ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L1	rs352341	0.808107	0	0	1	0	0	intronic	intronic	intronic	AFAP1L1	AFAP1L1	ENSG00000157510	Na	Na	Na	Na	Na	Na	Het;G>C	348;6|12	Hom;G>C	583;0|18
N	N	-	5	148801191	148801191	C	T	snp	ncRNA_exonic	 	 	 	 	CARMN																		rs6580604	0.494808	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	MIR143HG	MIR143HG	ENSG00000249669	Na	Na	Na	Na	Na	Na	Het;C>T	723;27|36	Hom;C>T	1542;2|62
N	N	-	5	148989122	148989122	C	T	snp	synonymous SNV	C322T	L108L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs2400891	0.377196	0.4635	0.4655	1	0	0	exonic	exonic	exonic	ARHGEF37	ARHGEF37	ENSG00000183111	synonymous SNV	synonymous SNV	unknown	ARHGEF37:NM_001001669:exon4:c.C322T:p.L108L,	ARHGEF37:uc003lra.1:exon4:c.C322T:p.L108L,	UNKNOWN	Het;C>T	1139;63|55	Hom;C>T	3405;2|127
N	N	-	5	148989312	148989312	A	G	snp	intronic	 	 	 	 	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs7443869	0.382388	0	0	1	0	0	intronic	intronic	intronic	ARHGEF37	ARHGEF37	ENSG00000183111	Na	Na	Na	Na	Na	Na	Het;A>G	1657;34|44	Hom;A>G	3560;0|82
N	N	-	5	148989320	148989320	T	C	snp	intronic	 	 	 	 	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs7447560	0.382388	0	0	1	0	0	intronic	intronic	intronic	ARHGEF37	ARHGEF37	ENSG00000183111	Na	Na	Na	Na	Na	Na	Het;T>C	1600;31|41	Hom;T>C	3461;0|77
N	N	-	5	149006837	149006837	A	G	snp	intronic	 	 	 	 	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs7732873	0.615216	0.6834	0.6616	1	0	0	intronic	intronic	intronic	ARHGEF37	ARHGEF37	ENSG00000183111	Na	Na	Na	Na	Na	Na	Het;A>G	2208;71|59	Hom;A>G	5653;1|161
N	N	-	5	149006879	149006879	A	G	snp	intronic	 	 	 	 	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs7733002	0.615415	0.6803	0.6614	1	0	0	intronic	intronic	intronic	ARHGEF37	ARHGEF37	ENSG00000183111	Na	Na	Na	Na	Na	Na	Het;A>G	663;43|29	Hom;A>G	2127;0|70
N	N	-	5	149008403	149008403	A	G	snp	synonymous SNV	A1692G	L564L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs1056993	0.672125	0.6892	0.6896	1	0	0	exonic	exonic	exonic	ARHGEF37	ARHGEF37	ENSG00000183111	synonymous SNV	synonymous SNV	unknown	ARHGEF37:NM_001001669:exon12:c.A1692G:p.L564L,	ARHGEF37:uc003lra.1:exon12:c.A1692G:p.L564L,	UNKNOWN	Het;A>G	1330;77|63	Hom;A>G	3198;0|114
N	N	-	5	149008521	149008521	A	G	snp	nonsynonymous SNV	A1810G	M604V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs1135093	0.69369	0.7105	0.6952	0.15	2	13	exonic	exonic	exonic	ARHGEF37	ARHGEF37	ENSG00000183111	nonsynonymous SNV	nonsynonymous SNV	unknown	ARHGEF37:NM_001001669:exon12:c.A1810G:p.M604V,	ARHGEF37:uc003lra.1:exon12:c.A1810G:p.M604V,	UNKNOWN	Het;A>G	581;41|28	Hom;A>G	1678;0|62
N	N	-	5	149301335	149301335	T	C	snp	intronic	 	 	 	 	PDE6A	Pde6a	ENSG00000132915	phosphodiesterase 6A	chr5:149237519-149324356	This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]	Retinal Diseases; Retinitis Pigmentosa; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutant mice have retinal degeneration.	Ca2+ pathway	GO:0007165;signal transduction;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007601;visual perception;TAS|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0046037;GMP metabolic process;IMP|GO:0050896;response to stimulus;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IMP	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PDE6A	https://www.uniprot.org/uniprot/P16499	https://hpo.jax.org/app/browse/search?q=PDE6A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180071	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6A&submit=Quick%0D%6764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6A	rs11167487	0.382388	0.2887	0	1	0	0	intronic	intronic	intronic	PDE6A	PDE6A	ENSG00000132915	Na	Na	Na	Na	Na	Na	Het;T>C	151;6|8	Hom;T>C	651;0|24
N	N	-	5	149311212	149311212	G	C	snp	ncRNA_exonic	 	 	 	 	LOC644762																		rs1991805	0.36881	0	0	1	0	0	ncRNA_exonic	intronic	intronic	LOC644762	PDE6A	ENSG00000132915	Na	Na	Na	Na	Na	Na	Het;G>C	2024;86|81	Hom;G>C	6957;4|240
N	N	-	5	149323772	149323772	G	A	snp	synonymous SNV	C465T	N155N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PDE6A	Pde6a	ENSG00000132915	phosphodiesterase 6A	chr5:149237519-149324356	This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]	Retinal Diseases; Retinitis Pigmentosa; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutant mice have retinal degeneration.	Ca2+ pathway	GO:0007165;signal transduction;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007601;visual perception;TAS|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0046037;GMP metabolic process;IMP|GO:0050896;response to stimulus;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IMP	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PDE6A	https://www.uniprot.org/uniprot/P16499	https://hpo.jax.org/app/browse/search?q=PDE6A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180071	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6A&submit=Quick%0D%6764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6A	rs2277926	0.249002	0.1755	0.1998	1	0	0	exonic	exonic	exonic	PDE6A	PDE6A	ENSG00000132915	synonymous SNV	synonymous SNV	unknown	PDE6A:NM_000440:exon1:c.C465T:p.N155N,	PDE6A:uc003lrg.4:exon1:c.C465T:p.N155N,PDE6A:uc021yfs.1:exon1:c.C465T:p.N155N,	UNKNOWN	Het;G>A	644;23|30	Hom;G>A	783;0|29
N	N	-	5	149323906	149323906	T	G	snp	synonymous SNV	A331C	R111R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PDE6A	Pde6a	ENSG00000132915	phosphodiesterase 6A	chr5:149237519-149324356	This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]	Retinal Diseases; Retinitis Pigmentosa; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutant mice have retinal degeneration.	Ca2+ pathway	GO:0007165;signal transduction;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007601;visual perception;TAS|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0046037;GMP metabolic process;IMP|GO:0050896;response to stimulus;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IMP	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PDE6A	https://www.uniprot.org/uniprot/P16499	https://hpo.jax.org/app/browse/search?q=PDE6A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180071	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6A&submit=Quick%0D%6764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6A	rs2277925	0.282548	0.2074	0.2091	1	0	0	exonic	exonic	exonic	PDE6A	PDE6A	ENSG00000132915	synonymous SNV	synonymous SNV	unknown	PDE6A:NM_000440:exon1:c.A331C:p.R111R,	PDE6A:uc003lrg.4:exon1:c.A331C:p.R111R,PDE6A:uc021yfs.1:exon1:c.A331C:p.R111R,	UNKNOWN	Het;T>G	702;27|33	Hom;T>G	2813;0|100
N	N	-	5	149324376	149324376	A	T	snp	upstream	 	 	 	 	PDE6A	Pde6a	ENSG00000132915	phosphodiesterase 6A	chr5:149237519-149324356	This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]	Retinal Diseases; Retinitis Pigmentosa; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutant mice have retinal degeneration.	Ca2+ pathway	GO:0007165;signal transduction;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007601;visual perception;TAS|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0046037;GMP metabolic process;IMP|GO:0050896;response to stimulus;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IMP	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PDE6A	https://www.uniprot.org/uniprot/P16499	https://hpo.jax.org/app/browse/search?q=PDE6A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180071	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6A&submit=Quick%0D%6764ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6A	rs2277924	0.322085	0	0	1	0	0	upstream	upstream	upstream	PDE6A	PDE6A	ENSG00000132915	Na	Na	Na	Na	Na	Na	Het;A>T	670;17|31	Hom;A>T	615;0|24
N	N	-	5	149374879	149374880	CT	C	indel	frameshift substitution	1032_1033G	 	 	 	TIGD6	 	ENSG00000164296	tigger transposable element derived 6	chr5:149372681-149380730	The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009]		 			GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIGD6				http://www.informatics.jax.org/searchtool/Search.do?query=TIGD6&submit=Quick%0D%11266ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD6	rs3832324	0.51877	0.5683	0.6030	1	0	0	exonic	exonic	exonic	TIGD6	TIGD6	ENSG00000164296	frameshift substitution	frameshift substitution	unknown	TIGD6:NM_001243253:exon2:c.1032_1033G,TIGD6:NM_030953:exon2:c.1032_1033G,	TIGD6:uc003lrj.3:exon2:c.1032_1033G,TIGD6:uc021yft.1:exon1:c.1032_1033G,TIGD6:uc003lri.3:exon2:c.1032_1033G,	UNKNOWN	Het;-T	3317;116|107	Hom;-T	6737;0|181
N	N	-	5	149374932	149374932	T	C	snp	nonsynonymous SNV	A980G	Q327R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	TIGD6	 	ENSG00000164296	tigger transposable element derived 6	chr5:149372681-149380730	The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009]		 			GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIGD6				http://www.informatics.jax.org/searchtool/Search.do?query=TIGD6&submit=Quick%0D%11266ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD6	rs10875553	0.667532	0.7104	0.7538	0.15	2	13	exonic	exonic	exonic	TIGD6	TIGD6	ENSG00000164296	nonsynonymous SNV	nonsynonymous SNV	unknown	TIGD6:NM_001243253:exon2:c.A980G:p.Q327R,TIGD6:NM_030953:exon2:c.A980G:p.Q327R,	TIGD6:uc003lrj.3:exon2:c.A980G:p.Q327R,TIGD6:uc021yft.1:exon1:c.A980G:p.Q327R,TIGD6:uc003lri.3:exon2:c.A980G:p.Q327R,	UNKNOWN	Het;T>C	2150;90|94	Hom;T>C	4127;0|145
N	N	-	5	149384680	149384680	A	G	snp	intronic	 	 	 	 	HMGXB3	Hmgxb3	ENSG00000113716	HMG-box containing 3	chr5:149379884-149432386	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]	HIV-1; Body Height	 		GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3	https://www.uniprot.org/uniprot/Q12766			http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3	rs6861548	0.807708	0	0	1	0	0	intronic	intronic	intronic	HMGXB3	HMGXB3	ENSG00000113716	Na	Na	Na	Na	Na	Na	Het;A>G	39;2|2	Hom;A>G	376;0|11
N	N	-	5	149406271	149406271	C	T	snp	nonsynonymous SNV	C1463T	A488V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HMGXB3	Hmgxb3	ENSG00000113716	HMG-box containing 3	chr5:149379884-149432386	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]	HIV-1; Body Height	 		GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3	https://www.uniprot.org/uniprot/Q12766			http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3	rs6579767	0.801118	0.8491	0.7800	0.17	2	12	exonic	exonic	exonic	HMGXB3	HMGXB3	ENSG00000113716	nonsynonymous SNV	nonsynonymous SNV	unknown	HMGXB3:NM_014983:exon8:c.C1463T:p.A488V,	HMGXB3:uc003lrk.4:exon8:c.C1463T:p.A488V,	UNKNOWN	Het;C>T	514;16|25	Hom;C>T	1416;0|54
N	N	-	5	149406733	149406733	G	T	snp	intronic	 	 	 	 	HMGXB3	Hmgxb3	ENSG00000113716	HMG-box containing 3	chr5:149379884-149432386	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]	HIV-1; Body Height	 		GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3	https://www.uniprot.org/uniprot/Q12766			http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3	rs2304069	0.74381	0.8090	0	1	0	0	intronic	intronic	intronic	HMGXB3	HMGXB3	ENSG00000113716	Na	Na	Na	Na	Na	Na	Het;G>T	220;10|11	Hom;G>T	334;0|13
N	N	-	5	149424966	149424966	G	A	snp	intronic	 	 	 	 	HMGXB3	Hmgxb3	ENSG00000113716	HMG-box containing 3	chr5:149379884-149432386	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]	HIV-1; Body Height	 		GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3	https://www.uniprot.org/uniprot/Q12766			http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3	rs2276983	0.799321	0	0	1	0	0	intronic	intronic	intronic	HMGXB3	HMGXB3	ENSG00000113716	Na	Na	Na	Na	Na	Na	Het;G>A	69;4|4	Hom;G>A	506;0|16
N	N	-	5	149431223	149431223	G	A	snp	intronic	 	 	 	 	HMGXB3	Hmgxb3	ENSG00000113716	HMG-box containing 3	chr5:149379884-149432386	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]	HIV-1; Body Height	 		GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3	https://www.uniprot.org/uniprot/Q12766			http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3	rs216131	0.8125	0	0	1	0	0	intronic	intronic	intronic	HMGXB3	HMGXB3	ENSG00000113716	Na	Na	Na	Na	Na	Na	Het;G>A	733;9|28	Hom;G>A	847;0|26
N	N	-	5	149431259	149431259	A	G	snp	intronic	 	 	 	 	HMGXB3	Hmgxb3	ENSG00000113716	HMG-box containing 3	chr5:149379884-149432386	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]	HIV-1; Body Height	 		GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3	https://www.uniprot.org/uniprot/Q12766			http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3	rs216132	0.79972	0.8263	0.8109	1	0	0	intronic	intronic	intronic	HMGXB3	HMGXB3	ENSG00000113716	Na	Na	Na	Na	Na	Na	Het;A>G	1408;34|59	Hom;A>G	2004;0|68
N	N	-	5	149433400	149433400	G	GC	indel	UTR3	*232C>GC	 	 	 	CSF1R	Csf1r	ENSG00000182578	colony stimulating factor 1 receptor	chr5:149432854-149492935	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer 	Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.	Other interleukin signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CSF1R		https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164770	http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R	rs3216780	0.452276	0	0	1	0	0	UTR3	UTR3	UTR3	CSF1R(NM_005211:c.*232C>GC,NM_001288705:c.*232C>GC)	CSF1R(uc011dcd.2:c.*329C>GC,uc003lrl.3:c.*232C>GC,uc003lrm.3:c.*232C>GC)	ENSG00000182578(ENST00000286301:c.*232C>GC,ENST00000504875:c.*972C>GC)	Na	Na	Na	Na	Na	Na	Het;+C	2198;49|65	Hom;+C	4466;0|116
N	N	-	5	149433596	149433596	T	G	snp	UTR3	*36A>C	 	 	 	CSF1R	Csf1r	ENSG00000182578	colony stimulating factor 1 receptor	chr5:149432854-149492935	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer 	Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.	Other interleukin signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CSF1R		https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164770	http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R	rs2066934	0.796725	0.4808	0.7754	1	0	0	UTR3	UTR3	UTR3	CSF1R(NM_005211:c.*36A>C,NM_001288705:c.*36A>C)	CSF1R(uc011dcd.2:c.*133A>C,uc003lrl.3:c.*36A>C,uc003lrm.3:c.*36A>C)	ENSG00000182578(ENST00000286301:c.*36A>C,ENST00000504875:c.*776A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	1438;56|39	Hom;T>G	4048;0|92
N	N	-	5	149433597	149433597	G	A	snp	UTR3	*35C>T	 	 	 	CSF1R	Csf1r	ENSG00000182578	colony stimulating factor 1 receptor	chr5:149432854-149492935	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer 	Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.	Other interleukin signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CSF1R		https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164770	http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R	rs2066933	0.795927	0.4959	0.7745	1	0	0	UTR3	UTR3	UTR3	CSF1R(NM_005211:c.*35C>T,NM_001288705:c.*35C>T)	CSF1R(uc011dcd.2:c.*132C>T,uc003lrl.3:c.*35C>T,uc003lrm.3:c.*35C>T)	ENSG00000182578(ENST00000286301:c.*35C>T,ENST00000504875:c.*775C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1438;57|39	Hom;G>A	4048;0|91
N	N	-	5	149437190	149437190	C	G	snp	intronic	 	 	 	 	CSF1R	Csf1r	ENSG00000182578	colony stimulating factor 1 receptor	chr5:149432854-149492935	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer 	Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.	Other interleukin signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CSF1R		https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164770	http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R	rs216138	0.791933	0.8212	0.7705	1	0	0	intronic	intronic	intronic	CSF1R	CSF1R	ENSG00000182578	Na	Na	Na	Na	Na	Na	Het;C>G	422;24|19	Hom;C>G	1134;0|41
N	N	-	5	149447628	149447628	A	G	snp	intronic	 	 	 	 	CSF1R	Csf1r	ENSG00000182578	colony stimulating factor 1 receptor	chr5:149432854-149492935	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer 	Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.	Other interleukin signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CSF1R		https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164770	http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R	rs216150	0.657548	0	0	1	0	0	intronic	intronic	intronic	CSF1R	CSF1R	ENSG00000182578	Na	Na	Na	Na	Na	Na	Het;A>G	34;4|2	Hom;A>G	219;0|7
N	N	-	5	149457678	149457678	G	A	snp	synonymous SNV	C726T	T242T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CSF1R	Csf1r	ENSG00000182578	colony stimulating factor 1 receptor	chr5:149432854-149492935	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer 	Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.	Other interleukin signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CSF1R		https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164770	http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R	rs2228422	0.38738	0.4807	0.5153	1	0	0	exonic	exonic	exonic	CSF1R	CSF1R	ENSG00000182578	synonymous SNV	synonymous SNV	unknown	CSF1R:NM_005211:exon5:c.C726T:p.T242T,CSF1R:NM_001288705:exon4:c.C726T:p.T242T,	CSF1R:uc011dce.1:exon4:c.C726T:p.T242T,CSF1R:uc003lrm.3:exon5:c.C726T:p.T242T,CSF1R:uc011dcf.2:exon4:c.C726T:p.T242T,CSF1R:uc003lrl.3:exon4:c.C726T:p.T242T,CSF1R:uc011dcd.2:exon3:c.C282T:p.T94T,	UNKNOWN	Het;G>A	1072;56|52	Hom;G>A	2125;2|83
N	N	-	5	149504158	149504158	T	C	snp	intronic	 	 	 	 	PDGFRB	Pdgfrb	ENSG00000113721	platelet derived growth factor receptor beta	chr5:149493400-149535435	This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]	esophageal adenocarcinoma; Type 2 Diabetes| edema | rosiglitazone; Hyperparathyroidism, Secondary; tyrosine kinase inhibitor pharmacokinetics; Alzheimer's disease ; ovarian cancer; Chronic renal failure|Kidney Failure, Chronic; schizophrenia | alcohol consumption; Leukemia, Lymphocytic, Chronic, B-Cell; Leukemia, Myeloid	Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0000165;MAPK cascade;TAS|GO:0006024;glycosaminoglycan biosynthetic process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006935;chemotaxis;IEA|GO:0007165;signal transduction;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010863;positive regulation of phospholipase C activity;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0014070;response to organic cyclic compound;IEA|GO:0014911;positive regulation of smooth muscle cell migration;ISS|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030335;positive regulation of cell migration;IDA|GO:0032355;response to estradiol;IEA|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0032526;response to retinoic acid;IEA|GO:0032956;regulation of actin cytoskeleton organization;ISS|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0033993;response to lipid;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IEA|GO:0035441;cell migration involved in vasculogenesis;ISS|GO:0035556;intracellular signal transduction;IEA|GO:0035789;metanephric mesenchymal cell migration;IEA|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IMP|GO:0035793;positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway;ISS|GO:0035909;aorta morphogenesis;ISS|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038091;positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway;IDA|GO:0042060;wound healing;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043406;positive regulation of MAP kinase activity;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043627;response to estrogen;IEA|GO:0045840;positive regulation of mitotic nuclear division;ISS|GO:0046488;phosphatidylinositol metabolic process;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0048839;inner ear development;IEA|GO:0050921;positive regulation of chemotaxis;ISS|GO:0055003;cardiac myofibril assembly;ISS|GO:0055093;response to hyperoxia;IEA|GO:0060326;cell chemotaxis;IDA|GO:0060437;lung growth;IEA|GO:0060981;cell migration involved in coronary angiogenesis;ISS|GO:0061298;retina vasculature development in camera-type eye;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071670;smooth muscle cell chemotaxis;ISS|GO:0072075;metanephric mesenchyme development;IEA|GO:0072262;metanephric glomerular mesangial cell proliferation involved in metanephros development;ISS|GO:0072275;metanephric glomerulus morphogenesis;IEA|GO:0072277;metanephric glomerular capillary formation;ISS|GO:0072278;metanephric comma-shaped body morphogenesis;IEA|GO:0072284;metanephric S-shaped body morphogenesis;IEA|GO:0090280;positive regulation of calcium ion import;ISS|GO:2000379;positive regulation of reactive oxygen species metabolic process;ISS|GO:2000491;positive regulation of hepatic stellate cell activation;IEA|GO:2000573;positive regulation of DNA biosynthetic process;ISS|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043202;lysosomal lumen;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004992;platelet activating factor receptor activity;TAS|GO:0005017;platelet-derived growth factor-activated receptor activity;TAS|GO:0005019;platelet-derived growth factor beta-receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IPI|GO:0005161;platelet-derived growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PDGFRB	https://www.uniprot.org/uniprot/P09619	https://hpo.jax.org/app/browse/search?q=PDGFRB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=173410	http://www.informatics.jax.org/searchtool/Search.do?query=PDGFRB&submit=Quick%0D%4398ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFRB	rs1075846	0.421126	0	0	1	0	0	intronic	intronic	intronic	PDGFRB	PDGFRB	ENSG00000113721	Na	Na	Na	Na	Na	Na	Het;T>C	47;4|4	Hom;T>C	97;0|4
N	N	-	5	149578999	149578999	T	A	snp	intronic	 	 	 	 	SLC6A7	Slc6a7	ENSG00000011083	solute carrier family 6 member 7	chr5:149569520-149602351	This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; alcohol consumption; Hyperparathyroidism, Secondary; asthma	 	Creatine metabolism	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015824;proline transport;TAS|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005298;proline:sodium symporter activity;TAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015193;L-proline transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A7	https://www.uniprot.org/uniprot/Q99884		https://www.ncbi.nlm.nih.gov/omim/?term=606205	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A7&submit=Quick%0D%541ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A7	rs731376	0.818291	0	0	1	0	0	intronic	intronic	intronic	SLC6A7	SLC6A7	ENSG00000011083	Na	Na	Na	Na	Na	Na	Het;T>A	776;39|37	Hom;T>A	2014;0|73
N	N	-	5	149582069	149582069	T	C	snp	intronic	 	 	 	 	SLC6A7	Slc6a7	ENSG00000011083	solute carrier family 6 member 7	chr5:149569520-149602351	This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; alcohol consumption; Hyperparathyroidism, Secondary; asthma	 	Creatine metabolism	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015824;proline transport;TAS|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005298;proline:sodium symporter activity;TAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015193;L-proline transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A7	https://www.uniprot.org/uniprot/Q99884		https://www.ncbi.nlm.nih.gov/omim/?term=606205	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A7&submit=Quick%0D%541ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A7	rs10875556	0.308307	0	0	1	0	0	intronic	intronic	intronic	SLC6A7	SLC6A7	ENSG00000011083	Na	Na	Na	Na	Na	Na	Het;T>C	314;29|17	Hom;T>C	1286;0|46
N	N	-	5	149583175	149583175	G	A	snp	intronic	 	 	 	 	SLC6A7	Slc6a7	ENSG00000011083	solute carrier family 6 member 7	chr5:149569520-149602351	This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; alcohol consumption; Hyperparathyroidism, Secondary; asthma	 	Creatine metabolism	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015824;proline transport;TAS|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005298;proline:sodium symporter activity;TAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015193;L-proline transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A7	https://www.uniprot.org/uniprot/Q99884		https://www.ncbi.nlm.nih.gov/omim/?term=606205	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A7&submit=Quick%0D%541ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A7	rs11749558	0.302915	0	0	1	0	0	intronic	intronic	intronic	SLC6A7	SLC6A7	ENSG00000011083	Na	Na	Na	Na	Na	Na	Het;G>A	2071;71|95	Hom;G>A	3121;0|118
N	N	-	5	149583300	149583300	T	C	snp	synonymous SNV	T1158C	F386F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	SLC6A7	Slc6a7	ENSG00000011083	solute carrier family 6 member 7	chr5:149569520-149602351	This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; alcohol consumption; Hyperparathyroidism, Secondary; asthma	 	Creatine metabolism	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015824;proline transport;TAS|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005298;proline:sodium symporter activity;TAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015193;L-proline transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A7	https://www.uniprot.org/uniprot/Q99884		https://www.ncbi.nlm.nih.gov/omim/?term=606205	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A7&submit=Quick%0D%541ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A7	rs2240793	0.661741	0.7186	0.7100	1	0	0	exonic	exonic	exonic	SLC6A7	SLC6A7	ENSG00000011083	synonymous SNV	synonymous SNV	unknown	SLC6A7:NM_014228:exon9:c.T1158C:p.F386F,	SLC6A7:uc003lrr.3:exon9:c.T1158C:p.F386F,	UNKNOWN	Het;T>C	2305;82|74	Hom;T>C	5068;1|142
N	N	-	5	149583336	149583336	T	C	snp	synonymous SNV	T1194C	D398D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SLC6A7	Slc6a7	ENSG00000011083	solute carrier family 6 member 7	chr5:149569520-149602351	This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; alcohol consumption; Hyperparathyroidism, Secondary; asthma	 	Creatine metabolism	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015824;proline transport;TAS|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005298;proline:sodium symporter activity;TAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015193;L-proline transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A7	https://www.uniprot.org/uniprot/Q99884		https://www.ncbi.nlm.nih.gov/omim/?term=606205	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A7&submit=Quick%0D%541ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A7	rs2240794	0.79353	0.8189	0.7749	1	0	0	exonic	exonic	exonic	SLC6A7	SLC6A7	ENSG00000011083	synonymous SNV	synonymous SNV	unknown	SLC6A7:NM_014228:exon9:c.T1194C:p.D398D,	SLC6A7:uc003lrr.3:exon9:c.T1194C:p.D398D,	UNKNOWN	Het;T>C	1769;57|50	Hom;T>C	3347;0|75
N	N	-	5	149584197	149584197	G	A	snp	intronic	 	 	 	 	SLC6A7	Slc6a7	ENSG00000011083	solute carrier family 6 member 7	chr5:149569520-149602351	This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; alcohol consumption; Hyperparathyroidism, Secondary; asthma	 	Creatine metabolism	GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015824;proline transport;TAS|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005298;proline:sodium symporter activity;TAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015193;L-proline transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A7	https://www.uniprot.org/uniprot/Q99884		https://www.ncbi.nlm.nih.gov/omim/?term=606205	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A7&submit=Quick%0D%541ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A7	rs17652561	0.210663	0.1915	0.2492	1	0	0	intronic	intronic	intronic	SLC6A7	SLC6A7	ENSG00000011083	Na	Na	Na	Na	Na	Na	Het;G>A	1114;46|53	Hom;G>A	2441;0|91
N	N	-	5	149627423	149627423	A	G	snp	intronic	 	 	 	 	CAMK2A	Camk2a	ENSG00000070808	calcium/calmodulin dependent protein kinase II alpha	chr5:149599054-149669854	The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]	Tobacco Use Disorder; Mental Competency; Weight Gain; Bipolar Disorder	Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes.	Ion transport by P-type ATPases	GO:0000082;G1/S transition of mitotic cell cycle;ISS|GO:0000165;MAPK cascade;TAS|GO:0002931;response to ischemia;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006816;calcium ion transport;ISS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007399;nervous system development;IBA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030154;cell differentiation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0038166;angiotensin-activated signaling pathway;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046777;protein autophosphorylation;ISS|GO:0046928;regulation of neurotransmitter secretion;ISS|GO:0048168;regulation of neuronal synaptic plasticity;ISS|GO:0048813;dendrite morphogenesis;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051928;positive regulation of calcium ion transport;ISS|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;IBA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035254;glutamate receptor binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMK2A	https://www.uniprot.org/uniprot/Q9UQM7	https://hpo.jax.org/app/browse/search?q=CAMK2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114078	http://www.informatics.jax.org/searchtool/Search.do?query=CAMK2A&submit=Quick%0D%1376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMK2A	rs7711562	0.605431	0.5772	0.5146	1	0	0	intronic	intronic	intronic	CAMK2A	CAMK2A	ENSG00000070808	Na	Na	Na	Na	Na	Na	Het;A>G	736;38|37	Hom;A>G	1128;0|41
N	N	-	5	149631413	149631413	A	G	snp	intronic	 	 	 	 	CAMK2A	Camk2a	ENSG00000070808	calcium/calmodulin dependent protein kinase II alpha	chr5:149599054-149669854	The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]	Tobacco Use Disorder; Mental Competency; Weight Gain; Bipolar Disorder	Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes.	Ion transport by P-type ATPases	GO:0000082;G1/S transition of mitotic cell cycle;ISS|GO:0000165;MAPK cascade;TAS|GO:0002931;response to ischemia;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006816;calcium ion transport;ISS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007399;nervous system development;IBA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030154;cell differentiation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0038166;angiotensin-activated signaling pathway;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046777;protein autophosphorylation;ISS|GO:0046928;regulation of neurotransmitter secretion;ISS|GO:0048168;regulation of neuronal synaptic plasticity;ISS|GO:0048813;dendrite morphogenesis;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051928;positive regulation of calcium ion transport;ISS|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;IBA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035254;glutamate receptor binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMK2A	https://www.uniprot.org/uniprot/Q9UQM7	https://hpo.jax.org/app/browse/search?q=CAMK2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114078	http://www.informatics.jax.org/searchtool/Search.do?query=CAMK2A&submit=Quick%0D%1376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMK2A	rs2288799	0.601438	0.5636	0.5161	1	0	0	intronic	intronic	intronic	CAMK2A	CAMK2A	ENSG00000070808	Na	Na	Na	Na	Na	Na	Het;A>G	1337;41|52	Hom;A>G	2666;1|86
N	N	-	5	149636073	149636073	T	G	snp	intronic	 	 	 	 	CAMK2A	Camk2a	ENSG00000070808	calcium/calmodulin dependent protein kinase II alpha	chr5:149599054-149669854	The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]	Tobacco Use Disorder; Mental Competency; Weight Gain; Bipolar Disorder	Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes.	Ion transport by P-type ATPases	GO:0000082;G1/S transition of mitotic cell cycle;ISS|GO:0000165;MAPK cascade;TAS|GO:0002931;response to ischemia;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006816;calcium ion transport;ISS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007399;nervous system development;IBA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030154;cell differentiation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0038166;angiotensin-activated signaling pathway;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046777;protein autophosphorylation;ISS|GO:0046928;regulation of neurotransmitter secretion;ISS|GO:0048168;regulation of neuronal synaptic plasticity;ISS|GO:0048813;dendrite morphogenesis;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051928;positive regulation of calcium ion transport;ISS|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;IBA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035254;glutamate receptor binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMK2A	https://www.uniprot.org/uniprot/Q9UQM7	https://hpo.jax.org/app/browse/search?q=CAMK2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114078	http://www.informatics.jax.org/searchtool/Search.do?query=CAMK2A&submit=Quick%0D%1376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMK2A	rs10463293	0.551318	0.4917	0	1	0	0	intronic	intronic	intronic	CAMK2A	CAMK2A	ENSG00000070808	Na	Na	Na	Na	Na	Na	Het;T>G	364;18|15	Hom;T>G	1133;0|30
N	N	-	5	149636109	149636109	G	A	snp	intronic	 	 	 	 	CAMK2A	Camk2a	ENSG00000070808	calcium/calmodulin dependent protein kinase II alpha	chr5:149599054-149669854	The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]	Tobacco Use Disorder; Mental Competency; Weight Gain; Bipolar Disorder	Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes.	Ion transport by P-type ATPases	GO:0000082;G1/S transition of mitotic cell cycle;ISS|GO:0000165;MAPK cascade;TAS|GO:0002931;response to ischemia;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006816;calcium ion transport;ISS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007399;nervous system development;IBA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030154;cell differentiation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0038166;angiotensin-activated signaling pathway;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046777;protein autophosphorylation;ISS|GO:0046928;regulation of neurotransmitter secretion;ISS|GO:0048168;regulation of neuronal synaptic plasticity;ISS|GO:0048813;dendrite morphogenesis;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051928;positive regulation of calcium ion transport;ISS|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;IBA|GO:0045202;synapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035254;glutamate receptor binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAMK2A	https://www.uniprot.org/uniprot/Q9UQM7	https://hpo.jax.org/app/browse/search?q=CAMK2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114078	http://www.informatics.jax.org/searchtool/Search.do?query=CAMK2A&submit=Quick%0D%1376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMK2A	rs10463294	0.541134	0.5132	0.5017	1	0	0	intronic	intronic	intronic	CAMK2A	CAMK2A	ENSG00000070808	Na	Na	Na	Na	Na	Na	Het;G>A	700;27|33	Hom;G>A	1950;0|71
N	N	-	5	149693997	149693997	T	C	snp	intronic	 	 	 	 	ARSI	Arsi	ENSG00000183876	arylsulfatase family member I	chr5:149675906-149718870	This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]	Lipoproteins, LDL	 	The activation of arylsulfatases	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARSI		https://hpo.jax.org/app/browse/search?q=ARSI&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610009	http://www.informatics.jax.org/searchtool/Search.do?query=ARSI&submit=Quick%0D%15101ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSI	rs10476937	0	0	0	1	0	0	intergenic	intergenic	intronic	ARSI(dist=11472),TCOF1(dist=43205)	ARSI(dist=11472),TCOF1(dist=43205)	ENSG00000183876	Na	Na	Na	Na	Na	Na	Het;T>C	134;2|4	Hom;T>C	152;0|4
N	N	-	5	149694021	149694021	C	T	snp	intronic	 	 	 	 	ARSI	Arsi	ENSG00000183876	arylsulfatase family member I	chr5:149675906-149718870	This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]	Lipoproteins, LDL	 	The activation of arylsulfatases	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARSI		https://hpo.jax.org/app/browse/search?q=ARSI&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610009	http://www.informatics.jax.org/searchtool/Search.do?query=ARSI&submit=Quick%0D%15101ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSI	rs10515640	0.302316	0	0	1	0	0	intergenic	intergenic	intronic	ARSI(dist=11496),TCOF1(dist=43181)	ARSI(dist=11496),TCOF1(dist=43181)	ENSG00000183876	Na	Na	Na	Na	Na	Na	Het;C>T	131;3|4	Hom;C>T	177;0|5
N	N	-	5	149914401	149914401	T	C	snp	intronic	 	 	 	 	NDST1	Ndst1	ENSG00000070614	N-deacetylase and N-sulfotransferase 1	chr5:149865381-149937773	This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	hypertension; Coronary Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for disruptions in this gene die late in gestation or neonatally.  Lungs fail to inflate and mice born alive experience respiratory distress and failure.	HS-GAG biosynthesis	GO:0000165;MAPK cascade;IEA|GO:0000271;polysaccharide biosynthetic process;IEA|GO:0003279;cardiac septum development;IEA|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006477;protein sulfation;IEA|GO:0006954;inflammatory response;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007507;heart development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0008152;metabolic process;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0015012;heparan sulfate proteoglycan biosynthetic process;TAS|GO:0030203;glycosaminoglycan metabolic process;IEA|GO:0030210;heparin biosynthetic process;IEA|GO:0030900;forebrain development;IEA|GO:0030901;midbrain development;IEA|GO:0035904;aorta development;IEA|GO:0048702;embryonic neurocranium morphogenesis;IEA|GO:0048703;embryonic viscerocranium morphogenesis;IEA|GO:0060976;coronary vasculature development;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0008146;sulfotransferase activity;IEA|GO:0015016;[heparan sulfate]-glucosamine N-sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019213;deacetylase activity;IEA|GO:0050119;N-acetylglucosamine deacetylase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NDST1	https://www.uniprot.org/uniprot/P52848	https://hpo.jax.org/app/browse/search?q=NDST1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600853	http://www.informatics.jax.org/searchtool/Search.do?query=NDST1&submit=Quick%0D%1365ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDST1	rs2545341	0	0.6712	0.6580	1	0	0	intronic	intronic	intronic	NDST1	NDST1	ENSG00000070614	Na	Na	Na	Na	Na	Na	Het;T>C	1010;37|46	Hom;T>C	2541;0|89
N	N	-	5	149919739	149919739	G	C	snp	synonymous SNV	G1662C	T554T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NDST1	Ndst1	ENSG00000070614	N-deacetylase and N-sulfotransferase 1	chr5:149865381-149937773	This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	hypertension; Coronary Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for disruptions in this gene die late in gestation or neonatally.  Lungs fail to inflate and mice born alive experience respiratory distress and failure.	HS-GAG biosynthesis	GO:0000165;MAPK cascade;IEA|GO:0000271;polysaccharide biosynthetic process;IEA|GO:0003279;cardiac septum development;IEA|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006477;protein sulfation;IEA|GO:0006954;inflammatory response;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007507;heart development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0008152;metabolic process;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0015012;heparan sulfate proteoglycan biosynthetic process;TAS|GO:0030203;glycosaminoglycan metabolic process;IEA|GO:0030210;heparin biosynthetic process;IEA|GO:0030900;forebrain development;IEA|GO:0030901;midbrain development;IEA|GO:0035904;aorta development;IEA|GO:0048702;embryonic neurocranium morphogenesis;IEA|GO:0048703;embryonic viscerocranium morphogenesis;IEA|GO:0060976;coronary vasculature development;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0008146;sulfotransferase activity;IEA|GO:0015016;[heparan sulfate]-glucosamine N-sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019213;deacetylase activity;IEA|GO:0050119;N-acetylglucosamine deacetylase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NDST1	https://www.uniprot.org/uniprot/P52848	https://hpo.jax.org/app/browse/search?q=NDST1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600853	http://www.informatics.jax.org/searchtool/Search.do?query=NDST1&submit=Quick%0D%1365ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDST1	rs1290147	0.806909	0.7455	0.7156	1	0	0	exonic	exonic	exonic	NDST1	NDST1	ENSG00000070614	synonymous SNV	synonymous SNV	unknown	NDST1:NM_001301063:exon8:c.G1662C:p.T554T,NDST1:NM_001543:exon8:c.G1662C:p.T554T,	NDST1:uc003lsk.4:exon8:c.G1662C:p.T554T,NDST1:uc011dcj.2:exon8:c.G1662C:p.T554T,	UNKNOWN	Het;G>C	1338;60|62	Hom;G>C	3015;0|109
N	N	-	5	150413406	150413406	A	C	snp	intronic	 	 	 	 	TNIP1	Tnip1	ENSG00000145901	TNFAIP3 interacting protein 1	chr5:150409506-150473138	This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	chronic obstructive pulmonary disease; Lupus Erythematosus, Systemic; Psoriasis; Sclerosis; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; systemic lupus erythematosus; lung cancer; lung cancer ; benzene haematotoxicity; psoriasis; bladder cancer; Tobacco Use Disorder; Asthma	Mice homozygous for a null allele exhibit perinatal lethality associated with anemia and focal apoptosis in the fetal liver. Mice homozygous for a gene trap allele exhibit partial prenatal lethality and SLE-like inflammatory disease.	Ovarian tumor domain proteases	GO:0002755;MyD88-dependent toll-like receptor signaling pathway;ISS|GO:0006412;translation;TAS|GO:0006952;defense response;TAS|GO:0006954;inflammatory response;IEA|GO:0007159;leukocyte cell-cell adhesion;IMP|GO:0009101;glycoprotein biosynthetic process;IDA|GO:0016579;protein deubiquitination;TAS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045071;negative regulation of viral genome replication;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050727;regulation of inflammatory response;IEA|GO:0050729;positive regulation of inflammatory response;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA|GO:0085032;modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade;IDA	GO:0005622;intracellular;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051019;mitogen-activated protein kinase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TNIP1	https://www.uniprot.org/uniprot/Q15025		https://www.ncbi.nlm.nih.gov/omim/?term=607714	http://www.informatics.jax.org/searchtool/Search.do?query=TNIP1&submit=Quick%0D%8803ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNIP1	rs2233305	0.747204	0.7515	0.8147	1	0	0	intronic	intronic	intronic	TNIP1	TNIP1	ENSG00000145901	Na	Na	Na	Na	Na	Na	Het;A>C	467;39|22	Hom;A>C	1351;0|46
N	N	-	5	150603444	150603444	C	G	snp	intronic	 	 	 	 	CCDC69	Ccdc69	ENSG00000198624	coiled-coil domain containing 69	chr5:150560613-150603706			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC69				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC69&submit=Quick%0D%16943ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC69	rs248461	0.353435	0.2753	0.3205	1	0	0	intronic	intronic	intronic	CCDC69	CCDC69	ENSG00000196743,ENSG00000198624	Na	Na	Na	Na	Na	Na	Het;C>G	425;21|22	Hom;C>G	757;0|29
N	N	-	5	150647239	150647239	A	G	snp	UTR3	*227A>G	 	 	 	GM2A	Gm2a	ENSG00000196743	GM2 ganglioside activator	chr5:150591711-150650001	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]	Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning.	Neutrophil degranulation	GO:0001573;ganglioside metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0007611;learning or memory;IEA|GO:0009313;oligosaccharide catabolic process;IEA|GO:0019915;lipid storage;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050877;neurological system process;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051345;positive regulation of hydrolase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005889;hydrogen:potassium-exchanging ATPase complex;IEA|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0045179;apical cortex;IEA|GO:0070062;extracellular exosome;IDA	GO:0004563;beta-N-acetylhexosaminidase activity;IEA|GO:0005319;lipid transporter activity;IEA|GO:0008047;enzyme activator activity;IEA|GO:0016004;phospholipase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030290;sphingolipid activator protein activity;TAS|GO:0032428;beta-N-acetylgalactosaminidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GM2A		https://hpo.jax.org/app/browse/search?q=GM2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613109	http://www.informatics.jax.org/searchtool/Search.do?query=GM2A&submit=Quick%0D%16454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GM2A	rs989	0.44349	0.3986	0.4444	1	0	0	UTR3	UTR3	UTR3	GM2A(NM_000405:c.*227A>G,NM_001167607:c.*38A>G)	GM2A(uc003ltr.4:c.*227A>G,uc011dcr.2:c.*38A>G)	ENSG00000196743(ENST00000357164:c.*227A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1154;88|55	Hom;A>G	2964;0|102
N	N	-	5	150647376	150647377	CT	C	indel	UTR3	*364_*365delinsC	 	 	 	GM2A	Gm2a	ENSG00000196743	GM2 ganglioside activator	chr5:150591711-150650001	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]	Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning.	Neutrophil degranulation	GO:0001573;ganglioside metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0007611;learning or memory;IEA|GO:0009313;oligosaccharide catabolic process;IEA|GO:0019915;lipid storage;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050877;neurological system process;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051345;positive regulation of hydrolase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005889;hydrogen:potassium-exchanging ATPase complex;IEA|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0045179;apical cortex;IEA|GO:0070062;extracellular exosome;IDA	GO:0004563;beta-N-acetylhexosaminidase activity;IEA|GO:0005319;lipid transporter activity;IEA|GO:0008047;enzyme activator activity;IEA|GO:0016004;phospholipase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030290;sphingolipid activator protein activity;TAS|GO:0032428;beta-N-acetylgalactosaminidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GM2A		https://hpo.jax.org/app/browse/search?q=GM2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613109	http://www.informatics.jax.org/searchtool/Search.do?query=GM2A&submit=Quick%0D%16454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GM2A	rs35295884	0.439097	0	0	1	0	0	UTR3	UTR3	UTR3	GM2A(NM_000405:c.*364_*365delinsC,NM_001167607:c.*175_*176delinsC)	GM2A(uc003ltr.4:c.*364_*365delinsC,uc011dcr.2:c.*175_*176delinsC)	ENSG00000196743(ENST00000357164:c.*364_*365delinsC)	Na	Na	Na	Na	Na	Na	Het;-T	488;55|37	Hom;-T	1334;5|67
N	N	-	5	150648242	150648242	C	CA	indel	UTR3	*1230C>CA	 	 	 	GM2A	Gm2a	ENSG00000196743	GM2 ganglioside activator	chr5:150591711-150650001	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]	Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning.	Neutrophil degranulation	GO:0001573;ganglioside metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0007611;learning or memory;IEA|GO:0009313;oligosaccharide catabolic process;IEA|GO:0019915;lipid storage;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050877;neurological system process;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051345;positive regulation of hydrolase activity;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005889;hydrogen:potassium-exchanging ATPase complex;IEA|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0045179;apical cortex;IEA|GO:0070062;extracellular exosome;IDA	GO:0004563;beta-N-acetylhexosaminidase activity;IEA|GO:0005319;lipid transporter activity;IEA|GO:0008047;enzyme activator activity;IEA|GO:0016004;phospholipase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030290;sphingolipid activator protein activity;TAS|GO:0032428;beta-N-acetylgalactosaminidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GM2A		https://hpo.jax.org/app/browse/search?q=GM2A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613109	http://www.informatics.jax.org/searchtool/Search.do?query=GM2A&submit=Quick%0D%16454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GM2A	rs35654352	0.40655	0	0	1	0	0	UTR3	UTR3	UTR3	GM2A(NM_000405:c.*1230C>CA,NM_001167607:c.*1041C>CA)	GM2A(uc003ltr.4:c.*1230C>CA,uc011dcr.2:c.*1041C>CA)	ENSG00000196743(ENST00000357164:c.*1230C>CA)	Na	Na	Na	Na	Na	Na	Het;+A	97;4|6	Hom;+A	288;0|12
N	N	-	5	150901788	150901788	G	GA	indel	intronic	 	 	 	 	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs398109549	0.527955	0	0	1	0	0	intronic	intronic	intronic	FAT2	FAT2	ENSG00000086570	Na	Na	Na	Na	Na	Na	Het;+A	427;3|20	Hom;+A	419;0|17
N	N	-	5	151138211	151138211	A	G	snp	upstream	 	 	 	 	ATOX1	Atox1	ENSG00000177556	antioxidant 1 copper chaperone	chr5:151121877-151152093	This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]	Hepatolenticular Degeneration	Homozygotes for a targeted null mutation have impaired intracellular copper trafficking and exhibit high postnatal mortality, retarded growth, hypoactivity, loose skin, hypopigmentation, and seizures.	Ion influx/efflux at host-pathogen interface	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006825;copper ion transport;IEA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006979;response to oxidative stress;TAS|GO:0015680;intracellular copper ion transport;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0030001;metal ion transport;IEA|GO:0035434;copper ion transmembrane transport;IEA	GO:0005829;cytosol;TAS	GO:0005375;copper ion transmembrane transporter activity;IEA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0016530;metallochaperone activity;TAS|GO:0016531;copper chaperone activity;IDA|GO:0032767;copper-dependent protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATOX1			https://www.ncbi.nlm.nih.gov/omim/?term=602270	http://www.informatics.jax.org/searchtool/Search.do?query=ATOX1&submit=Quick%0D%14046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATOX1	rs1549921	0.463658	0	0	1	0	0	upstream	upstream	ncRNA_intronic	ATOX1	ATOX1,AX747215	ENSG00000253921	Na	Na	Na	Na	Na	Na	Het;A>G	851;15|31	Hom;A>G	903;0|27
N	N	-	5	151149262	151149262	T	C	snp	downstream	 	 	 	 	LOC100652758																		rs17741826	0.224641	0	0	1	0	0	downstream	downstream	intronic	LOC100652758	LOC100652758	ENSG00000177556	Na	Na	Na	Na	Na	Na	Het;T>C	484;38|26	Hom;T>C	1381;2|50
N	N	-	5	151149448	151149448	T	C	snp	UTR3	*487A>G	 	 	 	LOC100652758																		rs2964577	0.479034	0	0	1	0	0	UTR3	UTR3	intronic	LOC100652758(NM_001278082:c.*487A>G)	LOC100652758(uc021ygc.2:c.*487A>G)	ENSG00000177556	Na	Na	Na	Na	Na	Na	Het;T>C	707;20|33	Hom;T>C	1322;0|47
N	N	-	5	151149603	151149604	GA	G	indel	UTR3	*332_*331delinsC	 	 	 	LOC100652758																		rs11348356	0.472843	0	0	1	0	0	UTR3	UTR3	intronic	LOC100652758(NM_001278082:c.*332_*331delinsC)	LOC100652758(uc021ygc.2:c.*332_*331delinsC)	ENSG00000177556	Na	Na	Na	Na	Na	Na	Het;-A	277;9|10	Hom;-A	559;0|16
N	N	-	5	151149662	151149662	A	G	snp	UTR3	*273T>C	 	 	 	LOC100652758																		rs2915878	0.242212	0	0	1	0	0	UTR3	UTR3	intronic	LOC100652758(NM_001278082:c.*273T>C)	LOC100652758(uc021ygc.2:c.*273T>C)	ENSG00000177556	Na	Na	Na	Na	Na	Na	Het;A>G	498;27|20	Hom;A>G	1244;1|42
N	N	-	5	151151257	151151257	C	T	snp	upstream	 	 	 	 	G3BP1	G3bp1	ENSG00000145907	G3BP stress granule assembly factor 1	chr5:151150606-151192346	This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]		Homozygous null mice display perinatal lethality with severe cell death in the nervous system and decreased cell proliferation. Neonates from heterozygous null female mice display increased mortality.		GO:0006810;transport;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0010494;cytoplasmic stress granule;IEA|GO:0016020;membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IBA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;TAS|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/G3BP1	https://www.uniprot.org/uniprot/Q13283		https://www.ncbi.nlm.nih.gov/omim/?term=608431	http://www.informatics.jax.org/searchtool/Search.do?query=G3BP1&submit=Quick%0D%8804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=G3BP1	rs2915875	0.0714856	0	0	1	0	0	upstream	upstream	intronic	G3BP1,LOC100652758	G3BP1,LOC100652758	ENSG00000145907,ENSG00000177556	Na	Na	Na	Na	Na	Na	Het;C>T	1036;25|43	Hom;C>T	1500;0|52
N	N	-	5	151151544	151151544	A	G	snp	UTR5	-14638A>G	 	 	 	G3BP1	G3bp1	ENSG00000145907	G3BP stress granule assembly factor 1	chr5:151150606-151192346	This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]		Homozygous null mice display perinatal lethality with severe cell death in the nervous system and decreased cell proliferation. Neonates from heterozygous null female mice display increased mortality.		GO:0006810;transport;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0010494;cytoplasmic stress granule;IEA|GO:0016020;membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IBA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;TAS|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/G3BP1	https://www.uniprot.org/uniprot/Q13283		https://www.ncbi.nlm.nih.gov/omim/?term=608431	http://www.informatics.jax.org/searchtool/Search.do?query=G3BP1&submit=Quick%0D%8804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=G3BP1	rs2915874	0.415136	0	0	1	0	0	UTR5	UTR5	UTR5	G3BP1(NM_198395:c.-14638A>G,NM_005754:c.-14638A>G)	G3BP1(uc010jhy.1:c.-14638A>G,uc003lun.3:c.-14638A>G,uc003lum.3:c.-14638A>G,uc011dcu.2:c.-25251A>G,uc010jhz.3:c.-25251A>G)	ENSG00000145907(ENST00000394123:c.-14638A>G,ENST00000543466:c.-25251A>G,ENST00000522761:c.-14638A>G,ENST00000356245:c.-14638A>G,ENST00000520177:c.-14638A>G,ENST00000522367:c.-14638A>G,ENST00000517947:c.-14638A>G,ENST00000507878:c.-14638A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1830;57|77	Hom;A>G	3786;0|136
N	N	-	5	151180621	151180621	A	G	snp	intronic	 	 	 	 	G3BP1	G3bp1	ENSG00000145907	G3BP stress granule assembly factor 1	chr5:151150606-151192346	This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]		Homozygous null mice display perinatal lethality with severe cell death in the nervous system and decreased cell proliferation. Neonates from heterozygous null female mice display increased mortality.		GO:0006810;transport;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0010494;cytoplasmic stress granule;IEA|GO:0016020;membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IBA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;TAS|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/G3BP1	https://www.uniprot.org/uniprot/Q13283		https://www.ncbi.nlm.nih.gov/omim/?term=608431	http://www.informatics.jax.org/searchtool/Search.do?query=G3BP1&submit=Quick%0D%8804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=G3BP1	rs892005	0.213458	0	0	1	0	0	intronic	intronic	intronic	G3BP1	G3BP1	ENSG00000145907	Na	Na	Na	Na	Na	Na	Het;A>G	86;1|3	Hom;A>G	254;0|7
N	N	-	5	151229811	151229811	T	G	snp	ncRNA_exonic	 	 	 	 	AC091982.3																		rs12108921	0.475839	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GLRA1	GLRA1	ENSG00000270978	Na	Na	Na	Na	Na	Na	Het;T>G	267;2|13	Hom;T>G	325;0|13
N	N	-	5	151230091	151230091	A	G	snp	ncRNA_exonic	 	 	 	 	AC091982.3																		rs6896141	0.450879	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GLRA1	GLRA1	ENSG00000270978	Na	Na	Na	Na	Na	Na	Het;A>G	268;8|12	Hom;A>G	873;0|34
N	N	-	5	151230282	151230282	C	T	snp	ncRNA_exonic	 	 	 	 	AC091982.3																		rs10078632	0.388379	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GLRA1	GLRA1	ENSG00000270978	Na	Na	Na	Na	Na	Na	Het;C>T	46;1|3	Hom;C>T	116;0|6
N	N	-	5	151239290	151239290	G	A	snp	intronic	 	 	 	 	GLRA1	Glra1	ENSG00000145888	glycine receptor alpha 1	chr5:151202074-151304403	The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]	several psychiatric disorders; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; alcohol consumption; Stroke	Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology.	Ligand-gated ion channel transport	GO:0001508;action potential;IEA|GO:0001964;startle response;IMP|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IDA|GO:0006820;anion transport;IEA|GO:0006821;chloride transport;IDA|GO:0006936;muscle contraction;IMP|GO:0007218;neuropeptide signaling pathway;IDA|GO:0007268;chemical synaptic transmission;IEA|GO:0007340;acrosome reaction;IEA|GO:0007601;visual perception;IEA|GO:0007628;adult walking behavior;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0042391;regulation of membrane potential;IMP|GO:0043576;regulation of respiratory gaseous exchange;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050905;neuromuscular process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051970;negative regulation of transmission of nerve impulse;IMP|GO:0060012;synaptic transmission, glycinergic;IBA|GO:0060013;righting reflex;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060080;inhibitory postsynaptic potential;ISS|GO:0071230;cellular response to amino acid stimulus;IDA|GO:0071294;cellular response to zinc ion;IDA|GO:0071361;cellular response to ethanol;IDA|GO:0097305;response to alcohol;ISS|GO:1902476;chloride transmembrane transport;IDA|GO:2000344;positive regulation of acrosome reaction;IMP	GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0034707;chloride channel complex;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IMP|GO:0016594;glycine binding;IDA|GO:0016933;extracellular-glycine-gated ion channel activity;IEA|GO:0016934;extracellular-glycine-gated chloride channel activity;IDA|GO:0022824;transmitter-gated ion channel activity;IEA|GO:0030977;taurine binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLRA1	https://www.uniprot.org/uniprot/P23415	https://hpo.jax.org/app/browse/search?q=GLRA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138491	http://www.informatics.jax.org/searchtool/Search.do?query=GLRA1&submit=Quick%0D%8802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRA1	rs7729026	0.390575	0	0	1	0	0	intronic	intronic	intronic	GLRA1	GLRA1	ENSG00000145888	Na	Na	Na	Na	Na	Na	Het;G>A	158;6|6	Hom;G>A	295;0|11
N	N	-	5	151239306	151239306	T	C	snp	intronic	 	 	 	 	GLRA1	Glra1	ENSG00000145888	glycine receptor alpha 1	chr5:151202074-151304403	The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]	several psychiatric disorders; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; alcohol consumption; Stroke	Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology.	Ligand-gated ion channel transport	GO:0001508;action potential;IEA|GO:0001964;startle response;IMP|GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IDA|GO:0006820;anion transport;IEA|GO:0006821;chloride transport;IDA|GO:0006936;muscle contraction;IMP|GO:0007218;neuropeptide signaling pathway;IDA|GO:0007268;chemical synaptic transmission;IEA|GO:0007340;acrosome reaction;IEA|GO:0007601;visual perception;IEA|GO:0007628;adult walking behavior;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0042391;regulation of membrane potential;IMP|GO:0043576;regulation of respiratory gaseous exchange;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050905;neuromuscular process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051970;negative regulation of transmission of nerve impulse;IMP|GO:0060012;synaptic transmission, glycinergic;IBA|GO:0060013;righting reflex;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060080;inhibitory postsynaptic potential;ISS|GO:0071230;cellular response to amino acid stimulus;IDA|GO:0071294;cellular response to zinc ion;IDA|GO:0071361;cellular response to ethanol;IDA|GO:0097305;response to alcohol;ISS|GO:1902476;chloride transmembrane transport;IDA|GO:2000344;positive regulation of acrosome reaction;IMP	GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0034707;chloride channel complex;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA	GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IMP|GO:0016594;glycine binding;IDA|GO:0016933;extracellular-glycine-gated ion channel activity;IEA|GO:0016934;extracellular-glycine-gated chloride channel activity;IDA|GO:0022824;transmitter-gated ion channel activity;IEA|GO:0030977;taurine binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLRA1	https://www.uniprot.org/uniprot/P23415	https://hpo.jax.org/app/browse/search?q=GLRA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138491	http://www.informatics.jax.org/searchtool/Search.do?query=GLRA1&submit=Quick%0D%8802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRA1	rs6870491	0.450679	0.4559	0.4137	1	0	0	intronic	intronic	intronic	GLRA1	GLRA1	ENSG00000145888	Na	Na	Na	Na	Na	Na	Het;T>C	199;9|7	Hom;T>C	347;1|16
N	N	-	5	153114615	153114615	T	C	snp	intronic	 	 	 	 	GRIA1	Gria1	ENSG00000155511	glutamate ionotropic receptor AMPA type subunit 1	chr5:152869175-153193429	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Stroke; Citalopram/adverse effects*; Migraine Disorders; Tobacco Use Disorder; several psychiatric disorders; Bulimia; Bipolar Disorder; schizophrenia; Anthropometric traits; Death, Sudden, Cardiac; Body Weight; Platelet Count; Psychiatric Disorders; Drug Hypersensitivity|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Body Weight Changes; Body Height; Weight Gain	Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine.	Synaptic adhesion-like molecules	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007616;long-term memory;IEA|GO:0031623;receptor internalization;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060292;long term synaptic depression;IEA|GO:0099566;regulation of postsynaptic cytosolic calcium ion concentration;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0009986;cell surface;ISS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0032590;dendrite membrane;IEA|GO:0032591;dendritic spine membrane;IDA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0044308;axonal spine;IEA|GO:0044309;neuron spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0055037;recycling endosome;IDA|GO:0098794;postsynapse;IEA|GO:0098839;postsynaptic density membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004971;AMPA glutamate receptor activity;IDA|GO:0005216;ion channel activity;IEA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;TAS|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;TAS|GO:0030165;PDZ domain binding;ISS|GO:0099583;neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration;IEA|GO:1904315;transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRIA1	https://www.uniprot.org/uniprot/P42261		https://www.ncbi.nlm.nih.gov/omim/?term=138248	http://www.informatics.jax.org/searchtool/Search.do?query=GRIA1&submit=Quick%0D%9876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIA1	rs6580035	0.722644	0	0	1	0	0	intronic	intronic	intronic	GRIA1	GRIA1	ENSG00000155511	Na	Na	Na	Na	Na	Na	Het;T>C	310;5|10	Hom;T>C	573;0|17
N	N	-	5	153114843	153114843	G	A	snp	intronic	 	 	 	 	GRIA1	Gria1	ENSG00000155511	glutamate ionotropic receptor AMPA type subunit 1	chr5:152869175-153193429	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Stroke; Citalopram/adverse effects*; Migraine Disorders; Tobacco Use Disorder; several psychiatric disorders; Bulimia; Bipolar Disorder; schizophrenia; Anthropometric traits; Death, Sudden, Cardiac; Body Weight; Platelet Count; Psychiatric Disorders; Drug Hypersensitivity|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Body Weight Changes; Body Height; Weight Gain	Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine.	Synaptic adhesion-like molecules	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007616;long-term memory;IEA|GO:0031623;receptor internalization;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060292;long term synaptic depression;IEA|GO:0099566;regulation of postsynaptic cytosolic calcium ion concentration;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0009986;cell surface;ISS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0032590;dendrite membrane;IEA|GO:0032591;dendritic spine membrane;IDA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0044308;axonal spine;IEA|GO:0044309;neuron spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0055037;recycling endosome;IDA|GO:0098794;postsynapse;IEA|GO:0098839;postsynaptic density membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004971;AMPA glutamate receptor activity;IDA|GO:0005216;ion channel activity;IEA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;TAS|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;TAS|GO:0030165;PDZ domain binding;ISS|GO:0099583;neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration;IEA|GO:1904315;transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRIA1	https://www.uniprot.org/uniprot/P42261		https://www.ncbi.nlm.nih.gov/omim/?term=138248	http://www.informatics.jax.org/searchtool/Search.do?query=GRIA1&submit=Quick%0D%9876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIA1	rs6869815	0.696885	0	0	1	0	0	intronic	intronic	intronic	GRIA1	GRIA1	ENSG00000155511	Na	Na	Na	Na	Na	Na	Het;G>A	277;24|15	Hom;G>A	977;0|36
N	N	-	5	153144216	153144216	A	G	snp	intronic	 	 	 	 	GRIA1	Gria1	ENSG00000155511	glutamate ionotropic receptor AMPA type subunit 1	chr5:152869175-153193429	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Stroke; Citalopram/adverse effects*; Migraine Disorders; Tobacco Use Disorder; several psychiatric disorders; Bulimia; Bipolar Disorder; schizophrenia; Anthropometric traits; Death, Sudden, Cardiac; Body Weight; Platelet Count; Psychiatric Disorders; Drug Hypersensitivity|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Body Weight Changes; Body Height; Weight Gain	Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine.	Synaptic adhesion-like molecules	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007616;long-term memory;IEA|GO:0031623;receptor internalization;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060292;long term synaptic depression;IEA|GO:0099566;regulation of postsynaptic cytosolic calcium ion concentration;IEA	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0009986;cell surface;ISS|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0032590;dendrite membrane;IEA|GO:0032591;dendritic spine membrane;IDA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0043197;dendritic spine;IEA|GO:0044308;axonal spine;IEA|GO:0044309;neuron spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0055037;recycling endosome;IDA|GO:0098794;postsynapse;IEA|GO:0098839;postsynaptic density membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004971;AMPA glutamate receptor activity;IDA|GO:0005216;ion channel activity;IEA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;TAS|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;TAS|GO:0030165;PDZ domain binding;ISS|GO:0099583;neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration;IEA|GO:1904315;transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRIA1	https://www.uniprot.org/uniprot/P42261		https://www.ncbi.nlm.nih.gov/omim/?term=138248	http://www.informatics.jax.org/searchtool/Search.do?query=GRIA1&submit=Quick%0D%9876ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIA1	rs3813470	0.71885	0.5707	0.6366	1	0	0	intronic	intronic	intronic	GRIA1	GRIA1	ENSG00000155511	Na	Na	Na	Na	Na	Na	Het;A>G	583;15|26	Hom;A>G	683;0|23
N	N	-	5	156680685	156680685	A	G	snp	UTR3	*997A>G	 	 	 	ITK	Itk	ENSG00000113263	IL2 inducible T-cell kinase	chr5:156569944-156682201	This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]	Body Mass Index; Celiac Disease|; Personality; atopy; dermatitis and eczema; Rhinitis, Allergic, Seasonal; Body Weight Changes	Mice homozygous for disruptions in this gene display decreased percentages of CD4 and CD8 cells, increased percentage of B cells, impaired T cell receptor signaling, and increased susceptibility to Toxoplasma gondii infection.	FCERI mediated Ca+2 mobilization	GO:0001816;cytokine production;IEA|GO:0001865;NK T cell differentiation;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007202;activation of phospholipase C activity;IEA|GO:0016310;phosphorylation;IEA|GO:0032609;interferon-gamma production;IEA|GO:0032633;interleukin-4 production;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042110;T cell activation;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050852;T cell receptor signaling pathway;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005911;cell-cell junction;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITK	https://www.uniprot.org/uniprot/Q08881	https://hpo.jax.org/app/browse/search?q=ITK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=186973	http://www.informatics.jax.org/searchtool/Search.do?query=ITK&submit=Quick%0D%4337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITK	rs27988	0.833466	0	0	1	0	0	UTR3	UTR3	UTR3	ITK(NM_005546:c.*997A>G)	ITK(uc003lwo.1:c.*997A>G)	ENSG00000113263(ENST00000422843:c.*997A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	706;31|34	Hom;A>G	2628;0|90
N	N	-	5	156789771	156789771	T	C	snp	ncRNA_exonic	 	 	 	 	AC008676.2																		rs7714183	0.487021	0	0	1	0	0	intronic	intronic	ncRNA_exonic	CYFIP2	CYFIP2	ENSG00000251405	Na	Na	Na	Na	Na	Na	Het;T>C	1635;63|72	Hom;T>C	3728;0|134
N	N	-	5	156791676	156791676	T	C	snp	ncRNA_exonic	 	 	 	 	AC008676.2																		rs6555971	0.269968	0	0	1	0	0	intronic	intronic	ncRNA_exonic	CYFIP2	CYFIP2	ENSG00000251405	Na	Na	Na	Na	Na	Na	Het;T>C	370;22|20	Hom;T>C	786;0|31
N	N	-	5	156803499	156803499	A	G	snp	ncRNA_exonic	 	 	 	 	AC008676.1																		rs10035272	0.329073	0	0	1	0	0	intronic	intronic	ncRNA_exonic	CYFIP2	CYFIP2	ENSG00000248544	Na	Na	Na	Na	Na	Na	Het;A>G	876;40|38	Hom;A>G	2251;0|82
N	N	-	5	157335696	157335696	T	C	snp	intergenic	 	 	 	 	CLINT1	Clint1	ENSG00000113282	clathrin interactor 1	chr5:157212751-157286183	This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Psychiatric Disorders; Tobacco Use Disorder; schizophrenia; psychotic disorders; Body Weight; Osteoporosis	 	Golgi Associated Vesicle Biogenesis	GO:0006897;endocytosis;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048268;clathrin coat assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0030276;clathrin binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLINT1	https://www.uniprot.org/uniprot/Q14677		https://www.ncbi.nlm.nih.gov/omim/?term=607265	http://www.informatics.jax.org/searchtool/Search.do?query=CLINT1&submit=Quick%0D%4341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLINT1	rs10067921	0.463858	0	0	1	0	0	intergenic	intergenic	intergenic	CLINT1(dist=49513),LOC101927697(dist=412016)	Mir_384(dist=19460),Mir_186(dist=770022)	ENSG00000113282(dist=49513),ENSG00000244331(dist=22570)	Na	Na	Na	Na	Na	Na	Het;T>C	36;3|2	Hom;T>C	92;0|3
N	N	-	5	157335726	157335726	T	TG	indel	intergenic	 	 	 	 	CLINT1	Clint1	ENSG00000113282	clathrin interactor 1	chr5:157212751-157286183	This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Psychiatric Disorders; Tobacco Use Disorder; schizophrenia; psychotic disorders; Body Weight; Osteoporosis	 	Golgi Associated Vesicle Biogenesis	GO:0006897;endocytosis;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048268;clathrin coat assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0030276;clathrin binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLINT1	https://www.uniprot.org/uniprot/Q14677		https://www.ncbi.nlm.nih.gov/omim/?term=607265	http://www.informatics.jax.org/searchtool/Search.do?query=CLINT1&submit=Quick%0D%4341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLINT1	rs35451628	0.465855	0	0	1	0	0	intergenic	intergenic	intergenic	CLINT1(dist=49543),LOC101927697(dist=411986)	Mir_384(dist=19490),Mir_186(dist=769992)	ENSG00000113282(dist=49543),ENSG00000244331(dist=22540)	Na	Na	Na	Na	Na	Na	Het;+G	60;5|3	Hom;+G	286;0|8
N	N	-	5	157335926	157335926	G	A	snp	intergenic	 	 	 	 	CLINT1	Clint1	ENSG00000113282	clathrin interactor 1	chr5:157212751-157286183	This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Psychiatric Disorders; Tobacco Use Disorder; schizophrenia; psychotic disorders; Body Weight; Osteoporosis	 	Golgi Associated Vesicle Biogenesis	GO:0006897;endocytosis;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048268;clathrin coat assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0030276;clathrin binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLINT1	https://www.uniprot.org/uniprot/Q14677		https://www.ncbi.nlm.nih.gov/omim/?term=607265	http://www.informatics.jax.org/searchtool/Search.do?query=CLINT1&submit=Quick%0D%4341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLINT1	rs12716331	0.466054	0	0	1	0	0	intergenic	intergenic	intergenic	CLINT1(dist=49743),LOC101927697(dist=411786)	Mir_384(dist=19690),Mir_186(dist=769792)	ENSG00000113282(dist=49743),ENSG00000244331(dist=22340)	Na	Na	Na	Na	Na	Na	Het;G>A	673;61|36	Hom;G>A	1990;0|72
N	N	-	5	157335993	157335993	T	C	snp	intergenic	 	 	 	 	CLINT1	Clint1	ENSG00000113282	clathrin interactor 1	chr5:157212751-157286183	This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Psychiatric Disorders; Tobacco Use Disorder; schizophrenia; psychotic disorders; Body Weight; Osteoporosis	 	Golgi Associated Vesicle Biogenesis	GO:0006897;endocytosis;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048268;clathrin coat assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0030276;clathrin binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLINT1	https://www.uniprot.org/uniprot/Q14677		https://www.ncbi.nlm.nih.gov/omim/?term=607265	http://www.informatics.jax.org/searchtool/Search.do?query=CLINT1&submit=Quick%0D%4341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLINT1	rs13359066	0.467252	0	0	1	0	0	intergenic	intergenic	intergenic	CLINT1(dist=49810),LOC101927697(dist=411719)	Mir_384(dist=19757),Mir_186(dist=769725)	ENSG00000113282(dist=49810),ENSG00000244331(dist=22273)	Na	Na	Na	Na	Na	Na	Het;T>C	290;25|12	Hom;T>C	822;0|23
N	N	-	5	157336009	157336009	C	T	snp	intergenic	 	 	 	 	CLINT1	Clint1	ENSG00000113282	clathrin interactor 1	chr5:157212751-157286183	This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Psychiatric Disorders; Tobacco Use Disorder; schizophrenia; psychotic disorders; Body Weight; Osteoporosis	 	Golgi Associated Vesicle Biogenesis	GO:0006897;endocytosis;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048268;clathrin coat assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0030276;clathrin binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLINT1	https://www.uniprot.org/uniprot/Q14677		https://www.ncbi.nlm.nih.gov/omim/?term=607265	http://www.informatics.jax.org/searchtool/Search.do?query=CLINT1&submit=Quick%0D%4341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLINT1	rs13356294	0.467252	0	0	1	0	0	intergenic	intergenic	intergenic	CLINT1(dist=49826),LOC101927697(dist=411703)	Mir_384(dist=19773),Mir_186(dist=769709)	ENSG00000113282(dist=49826),ENSG00000244331(dist=22257)	Na	Na	Na	Na	Na	Na	Het;C>T	170;22|5	Hom;C>T	535;0|13
N	N	-	5	157336024	157336024	A	G	snp	intergenic	 	 	 	 	CLINT1	Clint1	ENSG00000113282	clathrin interactor 1	chr5:157212751-157286183	This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Psychiatric Disorders; Tobacco Use Disorder; schizophrenia; psychotic disorders; Body Weight; Osteoporosis	 	Golgi Associated Vesicle Biogenesis	GO:0006897;endocytosis;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048268;clathrin coat assembly;IEA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0030276;clathrin binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLINT1	https://www.uniprot.org/uniprot/Q14677		https://www.ncbi.nlm.nih.gov/omim/?term=607265	http://www.informatics.jax.org/searchtool/Search.do?query=CLINT1&submit=Quick%0D%4341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLINT1	rs13358582	0.479034	0	0	1	0	0	intergenic	intergenic	intergenic	CLINT1(dist=49841),LOC101927697(dist=411688)	Mir_384(dist=19788),Mir_186(dist=769694)	ENSG00000113282(dist=49841),ENSG00000244331(dist=22242)	Na	Na	Na	Na	Na	Na	Het;A>G	104;12|4	Hom;A>G	405;0|9
N	N	-	5	157753105	157753105	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927697																		rs2988328	0.942093	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	LOC101927697	Mir_384(dist=436869),Mir_186(dist=352613)	ENSG00000253134(dist=47284),ENSG00000254350(dist=98488)	Na	Na	Na	Na	Na	Na	Het;T>C	956;50|47	Hom;T>C	2136;0|78
N	N	-	5	158522577	158522577	C	A	snp	intronic	 	 	 	 	EBF1	Ebf1	ENSG00000164330	early B-cell factor 1	chr5:158122928-158526769		Glucose; Erythrocyte Count; Tobacco Use Disorder; multiple sclerosis; Coronary Artery Disease; Cardiomegaly; Body Fat Distribution; Stroke; Varicose Veins; Heart Rate	Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age.	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EBF1			https://www.ncbi.nlm.nih.gov/omim/?term=164343	http://www.informatics.jax.org/searchtool/Search.do?query=EBF1&submit=Quick%0D%11282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EBF1	rs12659540	0.451877	0.4391	0.5009	1	0	0	intronic	intronic	intronic	EBF1	EBF1	ENSG00000164330	Na	Na	Na	Na	Na	Na	Het;C>A	366;17|17	Hom;C>A	805;0|30
N	N	-	5	158542765	158542765	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927740																		rs10077756	0.550319	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927740	AK123543	ENSG00000245812	Na	Na	Na	Na	Na	Na	Het;T>C	1076;54|47	Hom;T>C	2513;0|85
N	N	-	5	158589858	158589858	T	C	snp	intronic	 	 	 	 	RNF145	Rnf145	ENSG00000145860	ring finger protein 145	chr5:158584417-158637061		Platelet Count	 		GO:0000209;protein polyubiquitination;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNF145	https://www.uniprot.org/uniprot/Q96MT1			http://www.informatics.jax.org/searchtool/Search.do?query=RNF145&submit=Quick%0D%8795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF145	rs10515774	0.0589058	0	0	1	0	0	intronic	intronic	intronic	RNF145	RNF145	ENSG00000145860	Na	Na	Na	Na	Na	Na	Het;T>C	117;3|5	Hom;T>C	241;0|9
N	N	-	5	158600921	158600921	C	G	snp	intronic	 	 	 	 	RNF145	Rnf145	ENSG00000145860	ring finger protein 145	chr5:158584417-158637061		Platelet Count	 		GO:0000209;protein polyubiquitination;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RNF145	https://www.uniprot.org/uniprot/Q96MT1			http://www.informatics.jax.org/searchtool/Search.do?query=RNF145&submit=Quick%0D%8795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF145	rs2060211	0.0527157	0	0	1	0	0	intronic	intronic	intronic	RNF145	RNF145	ENSG00000145860	Na	Na	Na	Na	Na	Na	Het;C>G	69;8|4	Hom;C>G	304;0|12
N	N	-	5	158697481	158697481	C	G	snp	intronic	 	 	 	 	UBLCP1	Ublcp1	ENSG00000164332	ubiquitin like domain containing CTD phosphatase 1	chr5:158690089-158713044		Platelet Aggregation; Carotid Stenosis; Chronic renal failure|Kidney Failure, Chronic; Psoriasis	 		GO:0006470;protein dephosphorylation;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UBLCP1			https://www.ncbi.nlm.nih.gov/omim/?term=609867	http://www.informatics.jax.org/searchtool/Search.do?query=UBLCP1&submit=Quick%0D%11284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBLCP1	rs3734104	0	0.5291	0.5642	1	0	0	intronic	intronic	intronic	UBLCP1	UBLCP1	ENSG00000164332	Na	Na	Na	Na	Na	Na	Het;C>G	1925;51|81	Hom;C>G	3645;0|126
N	N	-	5	158699263	158699263	A	G	snp	intronic	 	 	 	 	UBLCP1	Ublcp1	ENSG00000164332	ubiquitin like domain containing CTD phosphatase 1	chr5:158690089-158713044		Platelet Aggregation; Carotid Stenosis; Chronic renal failure|Kidney Failure, Chronic; Psoriasis	 		GO:0006470;protein dephosphorylation;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UBLCP1			https://www.ncbi.nlm.nih.gov/omim/?term=609867	http://www.informatics.jax.org/searchtool/Search.do?query=UBLCP1&submit=Quick%0D%11284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBLCP1	rs11745659	0.26857	0	0	1	0	0	intronic	intronic	intronic	UBLCP1	UBLCP1	ENSG00000164332	Na	Na	Na	Na	Na	Na	Het;A>G	80;1|3	Hom;A>G	163;0|5
N	N	-	5	158710419	158710419	C	T	snp	intronic	 	 	 	 	UBLCP1	Ublcp1	ENSG00000164332	ubiquitin like domain containing CTD phosphatase 1	chr5:158690089-158713044		Platelet Aggregation; Carotid Stenosis; Chronic renal failure|Kidney Failure, Chronic; Psoriasis	 		GO:0006470;protein dephosphorylation;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UBLCP1			https://www.ncbi.nlm.nih.gov/omim/?term=609867	http://www.informatics.jax.org/searchtool/Search.do?query=UBLCP1&submit=Quick%0D%11284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBLCP1	rs1433046	0.486022	0	0	1	0	0	intronic	intronic	intronic	UBLCP1	UBLCP1	ENSG00000164332	Na	Na	Na	Na	Na	Na	Het;C>T	137;19|8	Hom;C>T	289;0|10
N	N	-	5	158742014	158742014	G	T	snp	UTR3	*1095C>A	 	 	 	IL12B	Il12b	ENSG00000113302	interleukin 12B	chr5:158741791-158757895	This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]	lymphoma; Adamantiades-Behcet's disease; celiac disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lipoproteins, LDL; null; hypertension; hepatitis C, chronic; Arthritis, Psoriatic|Psoriasis; HIV; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Osteolysis|Prosthesis Failure; Hepatitis C|Remission, Spontaneous; Spondylitis, Ankylosing; Asthma and Allergic Rhinitis; Cytomegalovirus Infections|Kidney Diseases; Chagas Cardiomyopathy; Crohn Disease|Rectal Fistula; bladder cancer; breast cancer; Anemia|Malaria; Hemoglobins; cervical intraepithelial neoplasia grade 3; dermatitis and eczema; Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Psoriasis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; lung cancer; Multiple Sclerosis; esophageal adenocarcinoma; hepatitis C liver disease, chronic and cirrhosis; myasthenia gravis; Colitis, Ulcerative; leprosy tuberculosis; benzene haematotoxicity; Celiac Disease|; Malaria, Falciparum|Parasitemia; Cytomegalovirus Infections|Postoperative Complications; Colitis, Ulcerative|Crohn Disease|; Arthritis, Psoriatic; Dawson's inclusion body encephalitis|Subacute Sclerosing Panencephalitis; tuberculosis; psoriasis psoriatic arthritis; hepatitis C; esophageal cancer ; Aggressive Periodontitis|Chronic Periodontitis|; AIDS Dementia Complex|HIV Infections; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Barrett Esophagus|Hernia, Hiatal|Inflammation; Helicobacter Infections; ulcerative colitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Crohn Disease; bronchodilator response; colorectal cancer; Crohn's, Ulcerative Colitis; Multiple Myeloma; HIV Infections|Neuritis|Somatosensory Disorders; myocardial infarct; atherosclerosis, coronary; chronic obstructive pulmonary disease; sarcoidosis; tuberculosis; paratyphoid feber typhoid fever; Leprosy, Lepromatous; Malaria, Cerebral; Cholesterol; Body Weight; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Lymphadenitis|Mycobacterium Infections|Periodontitis; schizophrenia; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; Cadaver|Cytomegalovirus Infections; Arthritis, Psoriatic|Diseases in Twins|Psoriasis|Psoriatic arthropathy; Chronic renal failure|Kidney Failure, Chronic; Asthma. allergic rhinitis; Type 2 Diabetes| edema | rosiglitazone; Crohn's disease; Graves' disease; Hashimoto's thryoiditis; Graves' disease Graves' ophthalmopathy hyperthyroidism IgE IL-12; Lymphoma, Large B-Cell, Diffuse; Tuberculosis; Neoplasms; peptic ulcer; diabetes, type 1; Graves' disease; Hashimoto's thryroiditis; silicosis; Asthma|Bronchial Hyperreactivity| Hypersensitivity, Immediate; psoriasis; asthma; multiple sclerosis; Lupus Erythematosus, Systemic; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; atherosclerosis; diabetes, type 1; HIV Infections; asthma (childhood); Adenocarcinoma|Stomach Neoplasms; cervical cancer; Coronary Artery Disease; hepatitis B; atopic dermatitis; Alcoholism|Liver Cirrhosis, Alcoholic; IgE levels; Hepatitis C|Hepatitis C, Chronic|Substance Abuse, Intravenous; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Brain Neoplasms|Glioma; lung cancer ; measles vaccine immunity; Rubella; Glucose; Cholesterol, LDL; rheumatoid arthritis; Psoriasis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tuberculosis, Pulmonary; Myocardial Infarction; psoriasis; dermatitis and eczema; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Infection|Postoperative Complications; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; lupus nephritis; Arthritis, Rheumatoid|Giant Cell Arteritis|Polymyalgia Rheumatica|Rheumatoid Arthritis|Temporal Arteritis; arthritis; felty's syndrome; large granular lymphocyte syndrome; susceptibility to tuberculosis; Asthma; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Leptospirosis|Swamp fever; Erythrocyte Count	Mice homozygous for a null allele display impaired Th1 responses, defects in IFN gamma secretion and NK cell activity, increased susceptibility to bacterial and parasitic infection, alveolar bone loss, and resistance to chemically induced tumors and to delayed type hypersensitivity.	Interleukin-4 and 13 signaling	GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0002230;positive regulation of defense response to virus by host;IEA|GO:0002323;natural killer cell activation involved in immune response;IEA|GO:0002827;positive regulation of T-helper 1 type immune response;IEA|GO:0002860;positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target;IDA|GO:0002862;negative regulation of inflammatory response to antigenic stimulus;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0010033;response to organic substance;IEA|GO:0010224;response to UV-B;IDA|GO:0010536;positive regulation of activation of Janus kinase activity;IDA|GO:0016477;cell migration;IDA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019953;sexual reproduction;TAS|GO:0030101;natural killer cell activation;IDA|GO:0032693;negative regulation of interleukin-10 production;IMP|GO:0032700;negative regulation of interleukin-17 production;IDA|GO:0032725;positive regulation of granulocyte macrophage colony-stimulating factor production;IDA|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0032733;positive regulation of interleukin-10 production;IDA|GO:0032735;positive regulation of interleukin-12 production;IDA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0032816;positive regulation of natural killer cell activation;IC|GO:0032819;positive regulation of natural killer cell proliferation;IDA|GO:0032946;positive regulation of mononuclear cell proliferation;IMP|GO:0034105;positive regulation of tissue remodeling;IC|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IDA|GO:0042035;regulation of cytokine biosynthetic process;TAS|GO:0042088;T-helper 1 type immune response;TAS|GO:0042093;T-helper cell differentiation;IDA|GO:0042095;interferon-gamma biosynthetic process;TAS|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0042346;positive regulation of NF-kappaB import into nucleus;TAS|GO:0042509;regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042832;defense response to protozoan;IEA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;TAS|GO:0045672;positive regulation of osteoclast differentiation;IDA|GO:0045785;positive regulation of cell adhesion;IDA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0050671;positive regulation of lymphocyte proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IC|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0051135;positive regulation of NK T cell activation;IC|GO:0051142;positive regulation of NK T cell proliferation;IDA|GO:0051607;defense response to virus;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071346;cellular response to interferon-gamma;IEA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0043514;interleukin-12 complex;IDA|GO:0070743;interleukin-23 complex;IDA	GO:0004896;cytokine receptor activity;IEA|GO:0005125;cytokine activity;IEA|GO:0005126;cytokine receptor binding;IEA|GO:0005143;interleukin-12 receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA|GO:0042164;interleukin-12 alpha subunit binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0045519;interleukin-23 receptor binding;IDA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL12B	https://www.uniprot.org/uniprot/P29460	https://hpo.jax.org/app/browse/search?q=IL12B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161561	http://www.informatics.jax.org/searchtool/Search.do?query=IL12B&submit=Quick%0D%4344ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12B	rs1368439	0.920327	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	IL12B(NM_002187:c.*1095C>A)	IL12B(uc003lxr.1:c.*1095C>A)	ENSG00000249738	Na	Na	Na	Na	Na	Na	Het;G>T	1051;44|44	Hom;G>T	2206;0|74
N	N	-	5	159505208	159505208	C	A	snp	intronic	 	 	 	 	PWWP2A	Pwwp2a	ENSG00000170234	PWWP domain containing 2A	chr5:159488808-159546430		Waist-Hip Ratio	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PWWP2A				http://www.informatics.jax.org/searchtool/Search.do?query=PWWP2A&submit=Quick%0D%12653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PWWP2A	rs4360078	0.693091	0.6812	0.6835	1	0	0	intronic	intronic	intronic	PWWP2A	PWWP2A	ENSG00000170234	Na	Na	Na	Na	Na	Na	Het;C>A	452;25|22	Hom;C>A	999;0|40
N	N	-	5	161275302	161275302	A	G	snp	UTR5	-2515A>G	 	 	 	GABRA1	Gabra1	ENSG00000022355	gamma-aminobutyric acid type A receptor alpha1 subunit	chr5:161274197-161326975	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]	mood disorder.; Major Psychoses; Type 2 Diabetes| edema | rosiglitazone; precocious puberty; Body Height; essential tremor; Bipolar Disorder; alcohol-dependence; methamphetamine use; schizophrenia; alcohol abuse; mood disorders; several psychiatric disorders; autism; depressive disorder, major; bipolar disorder; alcohol withdrawal alcoholism; heroin abuse; Bulimia; Arteries; attention deficit disorder conduct disorder oppositional defiant disorder; Dystonic Disorders; epilepsy, juvenile myoclonic; alcohol dependence; alcoholism; seizures; mood disorder; bipolar schizoaffective disorder; cirrhosis, alcoholic; alcoholism; Epilepsy	Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission.	GABA A receptor activation	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0051932;synaptic transmission, GABAergic;ISS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0071420;cellular response to histamine;IEA|GO:1902476;chloride transmembrane transport;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902710;GABA receptor complex;ISS|GO:1902711;GABA-A receptor complex;IDA	GO:0004890;GABA-A receptor activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008144;drug binding;ISS|GO:0016917;GABA receptor activity;ISS|GO:0022851;GABA-gated chloride ion channel activity;IDA|GO:1904315;transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRA1	https://www.uniprot.org/uniprot/P14867	https://hpo.jax.org/app/browse/search?q=GABRA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137160	http://www.informatics.jax.org/searchtool/Search.do?query=GABRA1&submit=Quick%0D%672ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA1	rs12658835	0.179513	0	0	1	0	0	UTR5	UTR5	UTR5	GABRA1(NM_000806:c.-2515A>G,NM_001127643:c.-2515A>G,NM_001127644:c.-2515A>G)	GABRA1(uc010jiw.3:c.-2515A>G,uc010jix.3:c.-2515A>G,uc010jiy.3:c.-2515A>G)	ENSG00000022355(ENST00000023897:c.-2515A>G,ENST00000428797:c.-2515A>G,ENST00000393943:c.-2515A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1297;89|64	Hom;A>G	4808;1|176
N	N	-	5	161528280	161528280	C	T	snp	synonymous SNV	C303T	N101N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GABRG2	Gabrg2	ENSG00000113327	gamma-aminobutyric acid type A receptor gamma2 subunit	chr5:161494546-161582542	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Epilepsies, Myoclonic|; heroin abuse; Epilepsy, Generalized|Seizures, Febrile; several psychiatric disorders; mood disorder; Dystonic Disorders; Alcoholism|Liver Cirrhosis|Liver Cirrhosis, Alcoholic; schizophrenia; kidney aging; prefrontal activity; seizures, febrile; alcoholism; Bulimia; bipolar schizoaffective disorder; febrile seizures; alcohol-dependence; epilepsy; alcohol abuse; seizures; Body Height; Diseases in Twins; Epilepsy, Tonic-Clonic; methamphetamine abuse; cirrhosis, alcoholic; alcoholism; methamphetamine use; alcohol dependence; Alcoholism; Bipolar Disorder; event-related prefrontal activity; Epilepsy; alcohol consumption; Lipoproteins, VLDL; epilepsy; seizures, febrile	Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors.	GABA A receptor activation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0009791;post-embryonic development;IEA|GO:0030534;adult behavior;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0051932;synaptic transmission, GABAergic;ISS|GO:0071420;cellular response to histamine;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032590;dendrite membrane;ISS|GO:0034707;chloride channel complex;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IEA	GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008503;benzodiazepine receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GABRG2	https://www.uniprot.org/uniprot/P18507	https://hpo.jax.org/app/browse/search?q=GABRG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137164	http://www.informatics.jax.org/searchtool/Search.do?query=GABRG2&submit=Quick%0D%4349ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRG2	rs211037	0.371605	0.3071	0.2854	1	0	0	exonic	exonic	exonic	GABRG2	GABRG2	ENSG00000113327	synonymous SNV	synonymous SNV	unknown	GABRG2:NM_198904:exon5:c.C588T:p.N196N,GABRG2:NM_198903:exon5:c.C588T:p.N196N,GABRG2:NM_000816:exon5:c.C588T:p.N196N,	GABRG2:uc011dej.2:exon6:c.C303T:p.N101N,GABRG2:uc003lyz.4:exon5:c.C588T:p.N196N,GABRG2:uc010jjc.3:exon5:c.C588T:p.N196N,GABRG2:uc003lyy.4:exon5:c.C588T:p.N196N,	UNKNOWN	Het;C>T	943;43|47	Hom;C>T	2750;0|104
N	N	-	5	16177716	16177716	T	C	snp	intronic	 	 	 	 	MARCH11	March11																	rs342548	0.73123	0	0	1	0	0	intronic	intronic	intronic	MARCH11	MARCH11	ENSG00000183654	Na	Na	Na	Na	Na	Na	Het;T>C	160;2|5	Hom;T>C	135;0|4
N	N	-	5	16177807	16177807	A	G	snp	intronic	 	 	 	 	MARCH11	March11																	rs2582666	0.644768	0.6456	0.7063	1	0	0	intronic	intronic	intronic	MARCH11	MARCH11	ENSG00000183654	Na	Na	Na	Na	Na	Na	Het;A>G	435;33|24	Hom;A>G	1788;0|66
N	N	-	5	161882437	161882437	G	A	snp	intergenic	 	 	 	 	AC091996.1																		rs7705470	0.889377	0	0	1	0	0	intergenic	intergenic	intergenic	GABRG2(dist=299892),CCNG1(dist=982140)	GABRG2(dist=299892),CCNG1(dist=982140)	ENSG00000254173(dist=28086),ENSG00000201474(dist=22460)	Na	Na	Na	Na	Na	Na	Het;G>A	362;16|19	Hom;G>A	913;0|33
N	N	-	5	162082685	162082685	G	C	snp	intergenic	 	 	 	 	AC091901.1																		rs312297	0	0	0	1	0	0	intergenic	intergenic	intergenic	GABRG2(dist=500140),CCNG1(dist=781892)	GABRG2(dist=500140),CCNG1(dist=781892)	ENSG00000254186(dist=32218),ENSG00000254351(dist=106154)	Na	Na	Na	Na	Na	Na	Het;G>C	100;1|4	Hom;G>C	198;0|7
N	N	-	5	162866548	162866548	T	C	snp	intronic	 	 	 	 	CCNG1	Ccng1	ENSG00000113328	cyclin G1	chr5:162864575-162873157	The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]	ovarian cancer	Depending on the allele, homozygous mutants exhibit increased cellular sensitivity to gamma-irradiation or decreased incidence of induced hepatic tumors.	Regulation of TP53 Degradation	GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCNG1	https://www.uniprot.org/uniprot/P51959		https://www.ncbi.nlm.nih.gov/omim/?term=601578	http://www.informatics.jax.org/searchtool/Search.do?query=CCNG1&submit=Quick%0D%4350ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNG1	rs299322	0.423522	0.3860	0.3575	1	0	0	intronic	intronic	intronic	CCNG1	CCNG1	ENSG00000113328,ENSG00000268800	Na	Na	Na	Na	Na	Na	Het;T>C	227;41|16	Hom;T>C	2230;0|83
N	N	-	5	162875401	162875401	A	G	snp	ncRNA_exonic	 	 	 	 	AK124680																		rs177250	0.308307	0	0	1	0	0	intergenic	ncRNA_exonic	UTR3	CCNG1(dist=3379),NUDCD2(dist=5185)	AK124680	ENSG00000170584(ENST00000302764:c.*5572T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	237;15|10	Hom;A>G	669;0|25
N	N	-	5	162886028	162886028	C	A	snp	intronic	 	 	 	 	NUDCD2	Nudcd2	ENSG00000170584	NudC domain containing 2	chr5:162873532-162887146			 		GO:0006457;protein folding;IBA|GO:0032502;developmental process;IBA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IEA|GO:0005622;intracellular;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/NUDCD2				http://www.informatics.jax.org/searchtool/Search.do?query=NUDCD2&submit=Quick%0D%12741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDCD2	rs213505	0.309305	0	0	1	0	0	intronic	intronic	intronic	NUDCD2	NUDCD2	ENSG00000170584	Na	Na	Na	Na	Na	Na	Het;C>A	1399;64|69	Hom;C>A	2858;0|108
N	N	-	5	162896856	162896856	T	C	snp	intronic	 	 	 	 	HMMR	Hmmr	ENSG00000072571	hyaluronan mediated motility receptor	chr5:162887209-162918947	The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]	Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Insulin	Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0030214;hyaluronan catabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMMR	https://www.uniprot.org/uniprot/O75330		https://www.ncbi.nlm.nih.gov/omim/?term=600936	http://www.informatics.jax.org/searchtool/Search.do?query=HMMR&submit=Quick%0D%1439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMMR	rs299283	0.422524	0.3873	0.3610	1	0	0	intronic	intronic	intronic	HMMR	HMMR	ENSG00000072571	Na	Na	Na	Na	Na	Na	Het;T>C	392;8|15	Hom;T>C	718;0|24
N	N	-	5	162898565	162898565	G	C	snp	intronic	 	 	 	 	HMMR	Hmmr	ENSG00000072571	hyaluronan mediated motility receptor	chr5:162887209-162918947	The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]	Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Insulin	Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0030214;hyaluronan catabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMMR	https://www.uniprot.org/uniprot/O75330		https://www.ncbi.nlm.nih.gov/omim/?term=600936	http://www.informatics.jax.org/searchtool/Search.do?query=HMMR&submit=Quick%0D%1439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMMR	rs169920	0.418331	0	0	1	0	0	intronic	intronic	intronic	HMMR	HMMR	ENSG00000072571	Na	Na	Na	Na	Na	Na	Het;G>C	108;7|5	Hom;G>C	691;0|18
N	N	-	5	162902516	162902516	T	C	snp	nonsynonymous SNV	T845C	V282A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HMMR	Hmmr	ENSG00000072571	hyaluronan mediated motility receptor	chr5:162887209-162918947	The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]	Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Insulin	Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0030214;hyaluronan catabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMMR	https://www.uniprot.org/uniprot/O75330		https://www.ncbi.nlm.nih.gov/omim/?term=600936	http://www.informatics.jax.org/searchtool/Search.do?query=HMMR&submit=Quick%0D%1439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMMR	rs299290	0.3127	0.2636	0.2839	0.08	1	13	exonic	exonic	exonic	HMMR	HMMR	ENSG00000072571	nonsynonymous SNV	nonsynonymous SNV	unknown	HMMR:NM_001142557:exon8:c.T845C:p.V282A,HMMR:NM_012485:exon10:c.T1058C:p.V353A,HMMR:NM_001142556:exon11:c.T1106C:p.V369A,HMMR:NM_012484:exon11:c.T1103C:p.V368A,	HMMR:uc003lzg.3:exon10:c.T1058C:p.V353A,HMMR:uc011dem.2:exon8:c.T845C:p.V282A,HMMR:uc003lzf.3:exon11:c.T1103C:p.V368A,HMMR:uc003lzh.3:exon11:c.T1106C:p.V369A,	UNKNOWN	Het;T>C	785;44|35	Hom;T>C	2522;0|82
N	N	-	5	162902707	162902707	G	A	snp	intronic	 	 	 	 	HMMR	Hmmr	ENSG00000072571	hyaluronan mediated motility receptor	chr5:162887209-162918947	The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]	Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Insulin	Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0030214;hyaluronan catabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMMR	https://www.uniprot.org/uniprot/O75330		https://www.ncbi.nlm.nih.gov/omim/?term=600936	http://www.informatics.jax.org/searchtool/Search.do?query=HMMR&submit=Quick%0D%1439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMMR	rs299291	0.421925	0.3770	0.3791	1	0	0	intronic	intronic	intronic	HMMR	HMMR	ENSG00000072571	Na	Na	Na	Na	Na	Na	Het;G>A	714;15|32	Hom;G>A	1365;0|48
N	N	-	5	163205	163205	G	C	snp	synonymous SNV	G1950C	A650A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PLEKHG4B	 	ENSG00000153404	pleckstrin homology and RhoGEF domain containing G4B	chr5:140373-190085			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B	https://www.uniprot.org/uniprot/Q96PX9			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B	rs3810870	0	0.7088	0.6713	1	0	0	exonic	exonic	exonic	PLEKHG4B	PLEKHG4B	ENSG00000153404	synonymous SNV	synonymous SNV	unknown	PLEKHG4B:NM_052909:exon11:c.G1950C:p.A650A,	PLEKHG4B:uc003jak.2:exon11:c.G1950C:p.A650A,	UNKNOWN	Het;G>C	841;54|38	Hom;G>C	1803;0|61
N	N	-	5	163266	163266	C	G	snp	nonsynonymous SNV	C2011G	R671G	polar,hydrophilic,charged(+)	aliphatic,neutral	PLEKHG4B	 	ENSG00000153404	pleckstrin homology and RhoGEF domain containing G4B	chr5:140373-190085			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B	https://www.uniprot.org/uniprot/Q96PX9			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B	rs3810867	0.383387	0.4082	0.3888	0.08	1	12	exonic	exonic	exonic	PLEKHG4B	PLEKHG4B	ENSG00000153404	nonsynonymous SNV	nonsynonymous SNV	unknown	PLEKHG4B:NM_052909:exon11:c.C2011G:p.R671G,	PLEKHG4B:uc003jak.2:exon11:c.C2011G:p.R671G,	UNKNOWN	Het;C>G	744;55|36	Hom;C>G	3329;0|76
N	N	-	5	16477751	16477751	C	A	snp	intronic	 	 	 	 	FAM134B	Fam134b																	rs162850	0.677117	0.7308	0.6625	1	0	0	intronic	intronic	intronic	FAM134B	FAM134B	ENSG00000154153	Na	Na	Na	Na	Na	Na	Het;C>A	456;39|25	Hom;C>A	796;0|29
N	N	-	5	16478200	16478200	G	A	snp	synonymous SNV	C816T	D272D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FAM134B	Fam134b																	rs162848	0.677516	0.7306	0.6661	1	0	0	exonic	exonic	exonic	FAM134B	FAM134B	ENSG00000154153	synonymous SNV	synonymous SNV	unknown	FAM134B:NM_001034850:exon7:c.C816T:p.D272D,FAM134B:NM_019000:exon5:c.C393T:p.D131D,	FAM134B:uc003jfs.3:exon7:c.C816T:p.D272D,FAM134B:uc003jfr.3:exon5:c.C393T:p.D131D,	UNKNOWN	Het;G>A	206;16|11	Hom;G>A	770;0|31
N	N	-	5	16481062	16481062	C	T	snp	intronic	 	 	 	 	FAM134B	Fam134b																	rs2305279	0.234225	0.1943	0	1	0	0	intronic	intronic	intronic	FAM134B	FAM134B	ENSG00000154153	Na	Na	Na	Na	Na	Na	Het;C>T	74;7|5	Hom;C>T	190;0|6
N	N	-	5	1667289	1667289	G	T	snp	intergenic	 	 	 	 	AC026412.1																		rs374759961	0.00239617	0	0	1	0	0	intergenic	intergenic	intergenic	LOC728613(dist=33169),MIR4277(dist=41611)	LOC728613(dist=33169),MIR4277(dist=41611)	ENSG00000188002(dist=33169),ENSG00000263746(dist=41611)	Na	Na	Na	Na	Na	Na	Het;G>T	59;10|4	Hom;G>T	221;0|9
N	N	-	5	16764334	16764334	C	T	snp	intronic	 	 	 	 	MYO10	Myo10	ENSG00000145555	myosin X	chr5:16665395-16936372	This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]	Cholesterol, HDL; Lipoproteins, VLDL; Hypertension; Tobacco Use Disorder; Forced Vital Capacity; Alzheimer's disease ; von Willebrand Factor; Neutrophils; Iron; Lymphocytes	Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects.	Netrin-1 signaling	GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IMP|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;ISS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051489;regulation of filopodium assembly;IMP	GO:0001726;ruffle;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031527;filopodium membrane;IEA|GO:0032433;filopodium tip;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;EXP|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030507;spectrin binding;IDA|GO:0030898;actin-dependent ATPase activity;ISS|GO:0051015;actin filament binding;ISS|GO:0060002;plus-end directed microfilament motor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MYO10	https://www.uniprot.org/uniprot/Q9HD67		https://www.ncbi.nlm.nih.gov/omim/?term=601481	http://www.informatics.jax.org/searchtool/Search.do?query=MYO10&submit=Quick%0D%8753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO10	rs250341	0.507987	0.5679	0.5584	1	0	0	intronic	intronic	intronic	MYO10	MYO10	ENSG00000145555	Na	Na	Na	Na	Na	Na	Het;C>T	344;29|18	Hom;C>T	1226;0|44
N	N	-	5	16764644	16764644	T	C	snp	intronic	 	 	 	 	MYO10	Myo10	ENSG00000145555	myosin X	chr5:16665395-16936372	This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]	Cholesterol, HDL; Lipoproteins, VLDL; Hypertension; Tobacco Use Disorder; Forced Vital Capacity; Alzheimer's disease ; von Willebrand Factor; Neutrophils; Iron; Lymphocytes	Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects.	Netrin-1 signaling	GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IMP|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;ISS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051489;regulation of filopodium assembly;IMP	GO:0001726;ruffle;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031527;filopodium membrane;IEA|GO:0032433;filopodium tip;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;EXP|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030507;spectrin binding;IDA|GO:0030898;actin-dependent ATPase activity;ISS|GO:0051015;actin filament binding;ISS|GO:0060002;plus-end directed microfilament motor activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MYO10	https://www.uniprot.org/uniprot/Q9HD67		https://www.ncbi.nlm.nih.gov/omim/?term=601481	http://www.informatics.jax.org/searchtool/Search.do?query=MYO10&submit=Quick%0D%8753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO10	rs2561231	0.279153	0	0	1	0	0	intronic	intronic	intronic	MYO10	MYO10	ENSG00000145555	Na	Na	Na	Na	Na	Na	Het;T>C	217;11|8	Hom;T>C	632;0|17
N	N	-	5	167653364	167653364	T	C	snp	intronic	 	 	 	 	TENM2	Tenm2	ENSG00000145934	teneurin transmembrane protein 2	chr5:166711804-167691162		Uric Acid; Tobacco Use Disorder; Cholesterol, HDL; Aspartate Aminotransferases; Erythrocyte Count; Respiratory Function Tests; Heart Failure; Cholesterol; Glucose	Mice homozygous for a null allele show abnormalities in the laterality and mapping of ipsilateral retinal projections that lead to loss of ipsilateral drive, defects in binocular vision, and impaired performance on a visual discrimination task.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0097264;self proteolysis;IEA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016605;PML body;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030425;dendrite;ISS|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TENM2	https://www.uniprot.org/uniprot/Q9NT68		https://www.ncbi.nlm.nih.gov/omim/?term=610119	http://www.informatics.jax.org/searchtool/Search.do?query=TENM2&submit=Quick%0D%8811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM2	rs3733985	0.665335	0	0	1	0	0	intronic	intronic	intronic	TENM2	TENM2	ENSG00000145934	Na	Na	Na	Na	Na	Na	Het;T>C	500;16|23	Hom;T>C	882;0|30
N	N	-	5	167653394	167653394	A	G	snp	intronic	 	 	 	 	TENM2	Tenm2	ENSG00000145934	teneurin transmembrane protein 2	chr5:166711804-167691162		Uric Acid; Tobacco Use Disorder; Cholesterol, HDL; Aspartate Aminotransferases; Erythrocyte Count; Respiratory Function Tests; Heart Failure; Cholesterol; Glucose	Mice homozygous for a null allele show abnormalities in the laterality and mapping of ipsilateral retinal projections that lead to loss of ipsilateral drive, defects in binocular vision, and impaired performance on a visual discrimination task.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0097264;self proteolysis;IEA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016605;PML body;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030425;dendrite;ISS|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TENM2	https://www.uniprot.org/uniprot/Q9NT68		https://www.ncbi.nlm.nih.gov/omim/?term=610119	http://www.informatics.jax.org/searchtool/Search.do?query=TENM2&submit=Quick%0D%8811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM2	rs3733986	0.671326	0	0	1	0	0	intronic	intronic	intronic	TENM2	TENM2	ENSG00000145934	Na	Na	Na	Na	Na	Na	Het;A>G	328;7|12	Hom;A>G	461;0|16
N	N	-	5	167656540	167656544	AAAAT	A	indel	intronic	 	 	 	 	TENM2	Tenm2	ENSG00000145934	teneurin transmembrane protein 2	chr5:166711804-167691162		Uric Acid; Tobacco Use Disorder; Cholesterol, HDL; Aspartate Aminotransferases; Erythrocyte Count; Respiratory Function Tests; Heart Failure; Cholesterol; Glucose	Mice homozygous for a null allele show abnormalities in the laterality and mapping of ipsilateral retinal projections that lead to loss of ipsilateral drive, defects in binocular vision, and impaired performance on a visual discrimination task.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0097264;self proteolysis;IEA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016605;PML body;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030425;dendrite;ISS|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0046982;protein heterodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TENM2	https://www.uniprot.org/uniprot/Q9NT68		https://www.ncbi.nlm.nih.gov/omim/?term=610119	http://www.informatics.jax.org/searchtool/Search.do?query=TENM2&submit=Quick%0D%8811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM2	rs143880444	0	0	0	1	0	0	intronic	intronic	intronic	TENM2	TENM2	ENSG00000145934	Na	Na	Na	Na	Na	Na	Het;-AAAT	128;8|6	Hom;-AAAT	683;0|16
N	N	-	5	167845791	167845791	C	T	snp	intronic	 	 	 	 	WWC1	Wwc1	ENSG00000113645	WW and C2 domain containing 1	chr5:167718656-167899308	The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Memory Disorders|Recurrence; memory disturbance; Memory Disorders|Prenatal Exposure Delayed Effects; Alzheimer's disease; monocyte chemoattractant protein 1 (66-77); null; Schizophrenia; Tobacco Use Disorder; cognitive ability; Memory Disorders; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit impaired adult synaptic plasticity and fear-based conditioning.	Signaling by Hippo	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016477;cell migration;IDA|GO:0030010;establishment of cell polarity;TAS|GO:0032386;regulation of intracellular transport;TAS|GO:0035329;hippo signaling;TAS|GO:0035330;regulation of hippo signaling;IMP|GO:0035331;negative regulation of hippo signaling;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0046621;negative regulation of organ growth;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0030674;protein binding, bridging;IEA|GO:0032947;protein complex scaffold;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WWC1	https://www.uniprot.org/uniprot/Q8IX03		https://www.ncbi.nlm.nih.gov/omim/?term=610533	http://www.informatics.jax.org/searchtool/Search.do?query=WWC1&submit=Quick%0D%4390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWC1	rs17070145	0.520567	0	0	1	0	0	intronic	intronic	intronic	WWC1	WWC1	ENSG00000113645	Na	Na	Na	Na	Na	Na	Het;C>T	431;3|19	Hom;C>T	736;0|30
N	N	-	5	168212951	168212951	A	G	snp	nonsynonymous SNV	T1112C	V371A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLIT3	Slit3	ENSG00000184347	slit guidance ligand 3	chr5:168088745-168728133	The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Osteoporosis; Metabolism; Obesity; Body Height; Body Mass Index; Tobacco Use Disorder; Cholesterol; Cervical Neoplasm|Uterine Cervical Neoplasms; pravastatin kinetics; Parkinson's disease ; Waist Circumference; Celiac Disease|; Magnesium	Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion.	Netrin-1 signaling	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0032870;cellular response to hormone stimulus;IEP|GO:0035385;Roundabout signaling pathway;IMP|GO:0048846;axon extension involved in axon guidance;IDA|GO:0050919;negative chemotaxis;IDA|GO:0051414;response to cortisol;IEP|GO:0061364;apoptotic process involved in luteolysis;IEP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005739;mitochondrion;NAS	GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLIT3			https://www.ncbi.nlm.nih.gov/omim/?term=603745	http://www.informatics.jax.org/searchtool/Search.do?query=SLIT3&submit=Quick%0D%15186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT3	rs891921	0.930312	0.9285	0.9062	0.23	3	13	exonic	exonic	exonic	SLIT3	SLIT3	ENSG00000184347	nonsynonymous SNV	nonsynonymous SNV	unknown	SLIT3:NM_003062:exon12:c.T1112C:p.V371A,SLIT3:NM_001271946:exon12:c.T1112C:p.V371A,	SLIT3:uc010jji.2:exon12:c.T1112C:p.V371A,SLIT3:uc003mab.4:exon12:c.T1112C:p.V371A,SLIT3:uc010jjg.4:exon12:c.T1112C:p.V371A,SLIT3:uc003mac.1:exon7:c.T503C:p.V168A,	UNKNOWN	Het;A>G	819;69|43	Hom;A>G	2113;0|77
N	N	-	5	168250429	168250429	C	T	snp	intronic	 	 	 	 	SLIT3	Slit3	ENSG00000184347	slit guidance ligand 3	chr5:168088745-168728133	The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]	Osteoporosis; Metabolism; Obesity; Body Height; Body Mass Index; Tobacco Use Disorder; Cholesterol; Cervical Neoplasm|Uterine Cervical Neoplasms; pravastatin kinetics; Parkinson's disease ; Waist Circumference; Celiac Disease|; Magnesium	Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion.	Netrin-1 signaling	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0032870;cellular response to hormone stimulus;IEP|GO:0035385;Roundabout signaling pathway;IMP|GO:0048846;axon extension involved in axon guidance;IDA|GO:0050919;negative chemotaxis;IDA|GO:0051414;response to cortisol;IEP|GO:0061364;apoptotic process involved in luteolysis;IEP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005739;mitochondrion;NAS	GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLIT3			https://www.ncbi.nlm.nih.gov/omim/?term=603745	http://www.informatics.jax.org/searchtool/Search.do?query=SLIT3&submit=Quick%0D%15186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT3	rs1875977	0.654952	0	0	1	0	0	intronic	intronic	intronic	SLIT3	SLIT3	ENSG00000184347	Na	Na	Na	Na	Na	Na	Het;C>T	409;22|18	Hom;C>T	681;0|21
N	N	-	5	169576990	169576990	T	C	snp	intergenic	 	 	 	 	KRT18P41																		rs111787089	0	0	0	1	0	0	intergenic	intergenic	intergenic	FOXI1(dist=40261),LINC01187(dist=41661)	Mir_548(dist=24699),AK055811(dist=41661)	ENSG00000253219(dist=8046),ENSG00000249601(dist=41593)	Na	Na	Na	Na	Na	Na	Het;T>C	897;21|31	Hom;T>C	2282;0|51
N	N	-	5	169758250	169758266	AACACACACACACACAC	A	indel	upstream	 	 	 	 	LOC257358																		rs58800527	0	0	0	1	0	0	upstream	upstream	upstream	LINC01366	LOC257358	ENSG00000235172	Na	Na	Na	Na	Na	Na	Het;-ACACACACACACACAC	41;2|2	Hom;-ACACACACACACACAC	88;0|3
N	N	-	5	169761661	169761661	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01366																		rs2279949	0.206869	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	LINC01366	LOC257358	ENSG00000235172	Na	Na	Na	Na	Na	Na	Het;G>A	892;56|43	Hom;G>A	2758;0|98
N	N	-	5	169816565	169816565	A	G	snp	ncRNA_exonic	 	 	 	 	CTD-2270F17.1																		rs827778	0.838259	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	CTD-2270F17.1	KCNMB1(uc003maq.2:c.-4114T>C,uc003mar.4:c.-4114T>C)	ENSG00000253647	Na	Na	Na	Na	Na	Na	Het;A>G	1033;36|43	Hom;A>G	2017;1|76
N	N	-	5	170160749	170160749	G	A	snp	intronic	 	 	 	 	KCNIP1	Kcnip1	ENSG00000182132	potassium voltage-gated channel interacting protein 1	chr5:169780491-170163636	This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]	Erythrocyte Count; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; normalized brain volume, multiple sclerosis	Mice homozygous for a knock-out allele exhibit increase susceptibility to pentylenetetrazole-induced seizures.	Phase 1 - inactivation of fast Na+ channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IDA	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0042995;cell projection;IEA	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNIP1			https://www.ncbi.nlm.nih.gov/omim/?term=604660	http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP1&submit=Quick%0D%14723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP1	rs4868018	0.766973	0	0	1	0	0	intronic	intronic	intronic	KCNIP1	KCNIP1	ENSG00000182132	Na	Na	Na	Na	Na	Na	Het;G>A	85;6|4	Hom;G>A	494;0|16
N	N	-	5	170238904	170238904	C	T	snp	intronic	 	 	 	 	GABRP	Gabrp	ENSG00000094755	gamma-aminobutyric acid type A receptor pi subunit	chr5:170190354-170241051	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]	Bipolar Disorder; suicide; bipolar schizoaffective disorder; several psychiatric disorders; schizophrenia; kidney aging; Heart Failure; Bulimia	Homozygous mutation of this gene does not appear to result in a phenotype.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRP	https://www.uniprot.org/uniprot/O00591		https://www.ncbi.nlm.nih.gov/omim/?term=602729	http://www.informatics.jax.org/searchtool/Search.do?query=GABRP&submit=Quick%0D%2222ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRP	rs3805458	0.242013	0	0	1	0	0	intronic	intronic	intronic	GABRP	GABRP	ENSG00000094755	Na	Na	Na	Na	Na	Na	Het;C>T	307;27|16	Hom;C>T	768;0|28
N	N	-	5	170239112	170239112	C	A	snp	nonsynonymous SNV	C1173A	F391L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GABRP	Gabrp	ENSG00000094755	gamma-aminobutyric acid type A receptor pi subunit	chr5:170190354-170241051	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]	Bipolar Disorder; suicide; bipolar schizoaffective disorder; several psychiatric disorders; schizophrenia; kidney aging; Heart Failure; Bulimia	Homozygous mutation of this gene does not appear to result in a phenotype.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA	GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GABRP	https://www.uniprot.org/uniprot/O00591		https://www.ncbi.nlm.nih.gov/omim/?term=602729	http://www.informatics.jax.org/searchtool/Search.do?query=GABRP&submit=Quick%0D%2222ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRP	rs1063310	0.223842	0.2643	0.2220	0.15	2	13	exonic	exonic	exonic	GABRP	GABRP	ENSG00000094755	nonsynonymous SNV	nonsynonymous SNV	unknown	GABRP:NM_014211:exon10:c.C1173A:p.F391L,	GABRP:uc003mau.3:exon10:c.C1173A:p.F391L,	UNKNOWN	Het;C>A	1218;110|64	Hom;C>A	4167;2|154
N	N	-	5	170626735	170626735	A	G	snp	synonymous SNV	A189G	V63V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RANBP17	Ranbp17	ENSG00000204764	RAN binding protein 17	chr5:170288874-170727019	The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]	Type 2 Diabetes| edema | rosiglitazone; Heart Failure	 		GO:0006606;protein import into nucleus;NAS|GO:0006611;protein export from nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA|GO:0051028;mRNA transport;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005737;cytoplasm;IEA	GO:0005049;nuclear export signal receptor activity;IBA|GO:0005525;GTP binding;NAS|GO:0008536;Ran GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RANBP17			https://www.ncbi.nlm.nih.gov/omim/?term=606141	http://www.informatics.jax.org/searchtool/Search.do?query=RANBP17&submit=Quick%0D%17396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RANBP17	rs35724654	0.0644968	0.1183	0.1173	1	0	0	exonic	exonic	exonic	RANBP17	RANBP17	ENSG00000204764	synonymous SNV	synonymous SNV	unknown	RANBP17:NM_022897:exon19:c.A2100G:p.V700V,	RANBP17:uc003mbd.3:exon3:c.A189G:p.V63V,RANBP17:uc003mbc.3:exon3:c.A189G:p.V63V,RANBP17:uc003mba.3:exon19:c.A2100G:p.V700V,RANBP17:uc003mbb.3:exon4:c.A75G:p.V25V,	UNKNOWN	Het;A>G	1407;73|65	Hom;A>G	4205;0|149
N	N	-	5	170847555	170847555	T	C	snp	intronic	 	 	 	 	FGF18	Fgf18	ENSG00000156427	fibroblast growth factor 18	chr5:170846660-170884627	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008]	nonsyndromic cleft lip; Bone Mineral Density; Cleft Lip|Cleft Palate|Tooth Abnormalities; Body Mass Index; Blood Pressure; Body Composition; Body Height	Homozygotes for targeted null mutations die perinatally and exhibit impaired proliferation and differentiation of osteoblasts, shortened and thickened long bones, and delayed ossification of the calvarium and long bones.	Signaling by FGFR3 point mutants in cancer	GO:0000165;MAPK cascade;TAS|GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001957;intramembranous ossification;IEA|GO:0001958;endochondral ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030324;lung development;IEA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IC|GO:2000546;positive regulation of endothelial cell chemotaxis to fibroblast growth factor;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005730;nucleolus;IDA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0005105;type 1 fibroblast growth factor receptor binding;IDA|GO:0005111;type 2 fibroblast growth factor receptor binding;IDA|GO:0008083;growth factor activity;TAS|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGF18	https://www.uniprot.org/uniprot/O76093		https://www.ncbi.nlm.nih.gov/omim/?term=603726	http://www.informatics.jax.org/searchtool/Search.do?query=FGF18&submit=Quick%0D%9979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF18	rs6555955	0.972644	0	0	1	0	0	intronic	intronic	intronic	FGF18	FGF18	ENSG00000156427	Na	Na	Na	Na	Na	Na	Het;T>C	260;2|11	Hom;T>C	140;0|6
N	N	-	5	1708983	1708983	G	A	snp	ncRNA_exonic	 	 	 	 	MIR4277																		rs12523324	0.620607	0	0.6631	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4277	MIR4277	ENSG00000263746	Na	Na	Na	Na	Na	Na	Het;G>A	672;38|32	Hom;G>A	1769;0|69
N	N	-	5	171554473	171554473	G	A	snp	intronic	 	 	 	 	STK10	Stk10	ENSG00000072786	serine/threonine kinase 10	chr5:171469077-171615390	This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Blood Cells; Cholesterol	Targeted disruption of this gene results in enhanced cell adhesion in mitogen-stimulated T cells.	Neutrophil degranulation	GO:0006468;protein phosphorylation;TAS|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0071593;lymphocyte aggregation;IEA|GO:2000401;regulation of lymphocyte migration;IMP	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STK10	https://www.uniprot.org/uniprot/O94804		https://www.ncbi.nlm.nih.gov/omim/?term=603919	http://www.informatics.jax.org/searchtool/Search.do?query=STK10&submit=Quick%0D%1447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK10	rs2279514	0.646366	0.5923	0.6956	1	0	0	intronic	intronic	intronic	STK10	STK10	ENSG00000072786	Na	Na	Na	Na	Na	Na	Het;G>A	304;11|16	Hom;G>A	504;0|20
N	N	-	5	172185312	172185312	G	A	snp	ncRNA_intronic	 	 	 	 	AC022217.2																		rs322364	0.56869	0	0	1	0	0	intronic	intergenic	ncRNA_intronic	LOC101928093	NEURL1B(dist=66779),DUSP1(dist=9781)	ENSG00000253295	Na	Na	Na	Na	Na	Na	Het;G>A	1346;76|70	Hom;G>A	3162;3|125
N	N	-	5	172511627	172511628	AT	A	indel	intronic	 	 	 	 	CREBRF	Crebrf	ENSG00000164463	CREB3 regulatory factor	chr5:172483355-172566291			Mice homozygous for a knock-out allele exhibit impaired social recognition, increased vertical and horizontal activity, abnormal maternal nurturing, decreased prolactin and corticosterone serum levels, and abnormal mammary gland growth during lactation.	CREB3 factors activate genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0006986;response to unfolded protein;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;TAS|GO:0042711;maternal behavior;IEA|GO:1900170;negative regulation of glucocorticoid mediated signaling pathway;IEA|GO:1902213;positive regulation of prolactin signaling pathway;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IEA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREBRF			https://www.ncbi.nlm.nih.gov/omim/?term=617109	http://www.informatics.jax.org/searchtool/Search.do?query=CREBRF&submit=Quick%0D%11313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREBRF	rs66617775	0.291933	0	0	1	0	0	intronic	intronic	intronic	CREBRF	CREBRF	ENSG00000164463	Na	Na	Na	Na	Na	Na	Het;-T	72;4|5	Hom;-T	228;0|10
N	N	-	5	172774409	172774409	C	T	snp	upstream	 	 	 	 	MIR8056																		rs4868261	0.742013	0	0.75	1	0	0	upstream	intergenic	intergenic	MIR8056	STC2(dist=17903),U6(dist=14728)	ENSG00000113739(dist=17903),ENSG00000199219(dist=14728)	Na	Na	Na	Na	Na	Na	Het;C>T	74;19|5	Hom;C>T	520;0|18
N	N	-	5	172774424	172774424	T	C	snp	upstream	 	 	 	 	MIR8056																		rs4868262	0.742013	0	1	1	0	0	upstream	intergenic	intergenic	MIR8056	STC2(dist=17918),U6(dist=14713)	ENSG00000113739(dist=17918),ENSG00000199219(dist=14713)	Na	Na	Na	Na	Na	Na	Het;T>C	161;21|9	Hom;T>C	741;0|26
N	N	-	5	172774626	172774626	C	T	snp	downstream	 	 	 	 	MIR8056																		rs6871935	0.741014	0	0	1	0	0	downstream	intergenic	intergenic	MIR8056	STC2(dist=18120),U6(dist=14511)	ENSG00000113739(dist=18120),ENSG00000199219(dist=14511)	Na	Na	Na	Na	Na	Na	Het;C>T	146;6|7	Hom;C>T	164;0|5
N	N	-	5	173138886	173138886	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01484																		rs791621	0.515375	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01484	BOD1(dist=95220),CPEB4(dist=176445)	ENSG00000253686	Na	Na	Na	Na	Na	Na	Het;A>G	684;49|33	Hom;A>G	1041;0|40
N	N	-	5	173138928	173138928	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01484																		rs812064	0.498602	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01484	BOD1(dist=95262),CPEB4(dist=176403)	ENSG00000253686	Na	Na	Na	Na	Na	Na	Het;G>A	739;46|39	Hom;G>A	1054;0|43
N	N	-	5	174106	174106	G	A	snp	nonsynonymous SNV	G3227A	R1076Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PLEKHG4B	 	ENSG00000153404	pleckstrin homology and RhoGEF domain containing G4B	chr5:140373-190085			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B	https://www.uniprot.org/uniprot/Q96PX9			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B	rs4956987	0.338858	0.4200	0.4992	0.42	5	12	exonic	exonic	exonic	PLEKHG4B	PLEKHG4B	ENSG00000153404	nonsynonymous SNV	nonsynonymous SNV	unknown	PLEKHG4B:NM_052909:exon16:c.G3227A:p.R1076Q,	PLEKHG4B:uc003jak.2:exon16:c.G3227A:p.R1076Q,	UNKNOWN	Het;G>A	1381;52|67	Hom;G>A	2892;0|110
N	N	-	5	174178774	174178774	G	A	snp	ncRNA_exonic	 	 	 	 	MIR4634																		rs7709117	0.526757	0	0.5	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR4634	MIR4634	ENSG00000266890	Na	Na	Na	Na	Na	Na	Het;G>A	683;46|36	Hom;G>A	1723;0|67
N	N	-	5	175386586	175386586	A	G	snp	UTR3	*386T>C	 	 	 	THOC3	Thoc3	ENSG00000051596	THO complex 3	chr5:175344876-175461683	This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]		 	mRNA 3'-end processing	GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0046784;viral mRNA export from host cell nucleus;IDA|GO:0051028;mRNA transport;IEA	GO:0000346;transcription export complex;IDA|GO:0000445;THO complex part of transcription export complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA	GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/THOC3	https://www.uniprot.org/uniprot/Q96J01		https://www.ncbi.nlm.nih.gov/omim/?term=606929	http://www.informatics.jax.org/searchtool/Search.do?query=THOC3&submit=Quick%0D%942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THOC3	rs1045694	0	0	0	1	0	0	UTR3	UTR3	UTR3	THOC3(NM_032361:c.*386T>C)	THOC3(uc003mdg.5:c.*386T>C)	ENSG00000051596(ENST00000265097:c.*386T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	224;42|16	Hom;A>G	788;0|31
N	N	-	5	175773021	175773021	T	C	snp	downstream	 	 	 	 	KIAA1191	4833439L19Rik	ENSG00000122203	KIAA1191	chr5:175773064-175788971		Alcoholism	 		GO:0008150;biological_process;ND|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1191	https://www.uniprot.org/uniprot/Q96A73			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1191&submit=Quick%0D%5393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1191	rs428494	0.713458	0	0	1	0	0	downstream	downstream	downstream	KIAA1191,SIMC1	KIAA1191,SIMC1	ENSG00000122203,ENSG00000170085	Na	Na	Na	Na	Na	Na	Het;T>C	1996;90|88	Hom;T>C	4925;0|167
N	N	-	5	175773287	175773287	T	C	snp	UTR3	*1316A>G	 	 	 	KIAA1191	4833439L19Rik	ENSG00000122203	KIAA1191	chr5:175773064-175788971		Alcoholism	 		GO:0008150;biological_process;ND|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1191	https://www.uniprot.org/uniprot/Q96A73			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1191&submit=Quick%0D%5393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1191	rs409744	0.705072	0	0	1	0	0	UTR3	UTR3	UTR3	KIAA1191(NM_001079685:c.*1316A>G,NM_001079684:c.*1316A>G,NM_001287336:c.*1316A>G,NM_020444:c.*1316A>G,NM_001287335:c.*1316A>G)	KIAA1191(uc003mdw.3:c.*1316A>G,uc003mdx.3:c.*1316A>G,uc003mdy.3:c.*1316A>G,uc003mea.3:c.*1316A>G)	ENSG00000122203(ENST00000298569:c.*1316A>G,ENST00000393725:c.*1316A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1385;87|68	Hom;T>C	4364;2|164
N	N	-	5	175788898	175788898	T	C	snp	UTR5	-2387A>G	 	 	 	KIAA1191	4833439L19Rik	ENSG00000122203	KIAA1191	chr5:175773064-175788971		Alcoholism	 		GO:0008150;biological_process;ND|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1191	https://www.uniprot.org/uniprot/Q96A73			http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1191&submit=Quick%0D%5393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1191	rs2278229	0.698083	0	0	1	0	0	upstream	upstream	UTR5	KIAA1191	KIAA1191	ENSG00000122203(ENST00000298569:c.-2387A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	67;1|3	Hom;T>C	128;0|5
N	N	-	5	175792605	175792605	G	C	snp	synonymous SNV	G39C	L13L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARL10	Arl10	ENSG00000175414	ADP ribosylation factor like GTPase 10	chr5:175792471-175828866			 		GO:0007264;small GTPase mediated signal transduction;IEA	GO:0005622;intracellular;IEA	GO:0000166;nucleotide binding;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL10				http://www.informatics.jax.org/searchtool/Search.do?query=ARL10&submit=Quick%0D%13696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL10	rs2303667	0.55651	0.5840	0.6642	1	0	0	exonic	exonic	exonic	ARL10	ARL10	ENSG00000175414	synonymous SNV	synonymous SNV	unknown	ARL10:NM_173664:exon1:c.G39C:p.L13L,	ARL10:uc003meb.3:exon1:c.G39C:p.L13L,ARL10:uc003mec.1:exon1:c.G39C:p.L13L,	UNKNOWN	Het;G>C	433;10|17	Hom;G>C	559;0|21
N	N	-	5	175793717	175793717	C	T	snp	intronic	 	 	 	 	ARL10	Arl10	ENSG00000175414	ADP ribosylation factor like GTPase 10	chr5:175792471-175828866			 		GO:0007264;small GTPase mediated signal transduction;IEA	GO:0005622;intracellular;IEA	GO:0000166;nucleotide binding;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL10				http://www.informatics.jax.org/searchtool/Search.do?query=ARL10&submit=Quick%0D%13696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL10	rs3815898	0.695887	0	0	1	0	0	intronic	intronic	intronic	ARL10	ARL10	ENSG00000175414	Na	Na	Na	Na	Na	Na	Het;C>T	184;1|8	Hom;C>T	78;0|3
N	N	-	5	176081856	176081856	A	G	snp	intronic	 	 	 	 	TSPAN17	Tspan17	ENSG00000048140	tetraspanin 17	chr5:176074388-176086058	This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]		 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0016567;protein ubiquitination;NAS|GO:0072594;establishment of protein localization to organelle;IDA	GO:0000151;ubiquitin ligase complex;NAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;NAS|GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN17	https://www.uniprot.org/uniprot/Q96FV3			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN17&submit=Quick%0D%884ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN17	rs13183320	0.676518	0.8114	0.7685	1	0	0	intronic	intronic	intronic	TSPAN17	TSPAN17	ENSG00000048140	Na	Na	Na	Na	Na	Na	Het;A>G	601;27|27	Hom;A>G	1708;2|63
N	N	-	5	176308870	176308870	C	CAG	indel	intronic	 	 	 	 	HK3	Hk3	ENSG00000160883	hexokinase 3	chr5:176307870-176326333	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; age at menarche/menopause	 	Glycolysis	GO:0001678;cellular glucose homeostasis;IBA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IBA|GO:0008152;metabolic process;IEA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS	GO:0005576;extracellular region;TAS|GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HK3			https://www.ncbi.nlm.nih.gov/omim/?term=142570	http://www.informatics.jax.org/searchtool/Search.do?query=HK3&submit=Quick%0D%10526ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HK3	rs61042413	0.22484	0.1662	0.2128	1	0	0	intronic	intronic	intronic	HK3	HK3	ENSG00000160883	Na	Na	Na	Na	Na	Na	Het;+AG	3119;89|82	Hom;+AG	6075;2|139
N	N	-	5	176887106	176887106	A	C	snp	intronic	 	 	 	 	DBN1	Dbn1	ENSG00000113758	drebrin 1	chr5:176883609-176901402	The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Heart Failure	Mice homozygous for a knock-out allele display impaired cued conditioning behavior. Mice homozygous for a different knock-out allele show altered neurotransmitter receptor levels in protein complexes, abnormal dendritic spine morphology, and impaired synaptic plasticity in the hippocampus.		GO:0007015;actin filament organization;ISS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010643;cell communication by chemical coupling;IEA|GO:0010644;cell communication by electrical coupling;IEA|GO:0030154;cell differentiation;IEA|GO:0032507;maintenance of protein location in cell;IEA|GO:0048168;regulation of neuronal synaptic plasticity;NAS|GO:0048699;generation of neurons;IEA|GO:0050773;regulation of dendrite development;NAS|GO:0061351;neural precursor cell proliferation;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005921;gap junction;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;NAS|GO:0030426;growth cone;IEA|GO:0030863;cortical cytoskeleton;TAS|GO:0042641;actomyosin;NAS|GO:0042995;cell projection;IEA	GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0005522;profilin binding;ISS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DBN1	https://www.uniprot.org/uniprot/Q16643		https://www.ncbi.nlm.nih.gov/omim/?term=126660	http://www.informatics.jax.org/searchtool/Search.do?query=DBN1&submit=Quick%0D%4405ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DBN1	rs2545795	0.417532	0	0	1	0	0	intronic	intronic	intronic	DBN1	DBN1	ENSG00000113758	Na	Na	Na	Na	Na	Na	Het;A>C	124;5|7	Hom;A>C	193;0|6
N	N	-	5	177398200	177398200	A	C	snp	ncRNA_intronic	 	 	 	 	AC106795.3																		rs7449126	0.859026	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC728554(dist=86931),PROP1(dist=21036)	AK126616(dist=13302),PROP1(dist=21036)	ENSG00000250101	Na	Na	Na	Na	Na	Na	Het;A>C	114;1|4	Hom;A>C	148;0|6
N	N	-	5	177423144	177423144	T	G	snp	UTR5	-210A>C	 	 	 	PROP1	Prop1	ENSG00000280635	PROP paired-like homeobox 1	chr5:177419236-177423243	This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]	Hypopituitarism|Hypopituitarism NOS; Hypopituitarism; Bone Mineral Density; Type 2 Diabetes| edema | rosiglitazone; combined pituitary hormone deficiency	Homozygotes for a spontaneous mutation exhibit severe proportional dwarfism, hypothyroidism, and sterility. Mutants fail to develop the anterior pituitary cells that secrete growth hormone, prolactin, and thyroid stimulating hormone.				GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PROP1		https://hpo.jax.org/app/browse/search?q=PROP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601538	http://www.informatics.jax.org/searchtool/Search.do?query=PROP1&submit=Quick%0D%22228ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PROP1	rs13187293	0.330272	0	0	1	0	0	UTR5	UTR5	UTR5	PROP1(NM_006261:c.-210A>C)	PROP1(uc003mif.1:c.-210A>C)	ENSG00000175325(ENST00000308304:c.-210A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	314;20|17	Hom;T>G	785;0|26
N	N	-	5	177746863	177746863	G	A	snp	intronic	 	 	 	 	COL23A1	Col23a1	ENSG00000050767	collagen type XXIII alpha 1 chain	chr5:177664619-178017556	COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; Kidney Diseases; Potassium; hypertension; Arteries; monocyte chemoattractant protein 1 (66-77); Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	Collagen chain trimerization		GO:0005581;collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL23A1	https://www.uniprot.org/uniprot/Q86Y22		https://www.ncbi.nlm.nih.gov/omim/?term=610043	http://www.informatics.jax.org/searchtool/Search.do?query=COL23A1&submit=Quick%0D%933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL23A1	rs11745722	0.566094	0	0	1	0	0	intronic	intronic	intronic	COL23A1	COL23A1	ENSG00000050767	Na	Na	Na	Na	Na	Na	Het;G>A	77;2|4	Hom;G>A	93;0|4
N	N	-	5	177771819	177771819	C	T	snp	intronic	 	 	 	 	COL23A1	Col23a1	ENSG00000050767	collagen type XXIII alpha 1 chain	chr5:177664619-178017556	COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; Kidney Diseases; Potassium; hypertension; Arteries; monocyte chemoattractant protein 1 (66-77); Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	Collagen chain trimerization		GO:0005581;collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL23A1	https://www.uniprot.org/uniprot/Q86Y22		https://www.ncbi.nlm.nih.gov/omim/?term=610043	http://www.informatics.jax.org/searchtool/Search.do?query=COL23A1&submit=Quick%0D%933ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL23A1	rs72820957	0.090655	0	0	1	0	0	intronic	intronic	intronic	COL23A1	COL23A1	ENSG00000050767	Na	Na	Na	Na	Na	Na	Het;C>T	64;5|4	Hom;C>T	88;0|4
N	N	-	5	17811929	17811929	T	TGAAAG	indel	ncRNA_intronic	 	 	 	 	BC028204																		rs10667342	0.5623	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	LOC401177(dist=424510),CDH18(dist=1661226)	BC028204	ENSG00000249937	Na	Na	Na	Na	Na	Na	Het;+GAAAG	1864;52|50	Hom;+GAAAG	4532;0|103
N	N	-	5	178139442	178139442	T	G	snp	synonymous SNV	A1437C	S479S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF354A	Zfp354a	ENSG00000169131	zinc finger protein 354A	chr5:178138593-178157703		HIV Infections|[X]Human immunodeficiency virus disease; ovarian cancer	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007605;sensory perception of sound;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF354A			https://www.ncbi.nlm.nih.gov/omim/?term=602444	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF354A&submit=Quick%0D%12423ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF354A	rs1132338	0.285343	0.2430	0.3000	1	0	0	exonic	exonic	exonic	ZNF354A	ZNF354A	ENSG00000169131	synonymous SNV	synonymous SNV	unknown	ZNF354A:NM_005649:exon5:c.A1437C:p.S479S,	ZNF354A:uc003mjj.3:exon5:c.A1437C:p.S479S,	UNKNOWN	Het;T>G	39;3|3	Hom;T>G	197;0|6
N	N	-	5	17852812	17852812	G	A	snp	ncRNA_exonic	 	 	 	 	LINC02223																		rs1033149	0.808906	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	LOC401177(dist=465393),CDH18(dist=1620343)	BC028204	ENSG00000249937	Na	Na	Na	Na	Na	Na	Het;G>A	791;37|40	Hom;G>A	2176;0|86
N	N	-	5	178667395	178667395	G	C	snp	intronic	 	 	 	 	ADAMTS2	Adamts2	ENSG00000283802	ADAM metallopeptidase with thrombospondin type 1 motif 2	chr5:178537852-178772431	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]	Hypertrophy, Left Ventricular; Attention deficit hyperactivity disorder (time to onset); Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease	Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling.					http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS2	https://www.uniprot.org/uniprot/O95450	https://hpo.jax.org/app/browse/search?q=ADAMTS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604539	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS2&submit=Quick%0D%22808ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS2	rs469396	0.373403	0	0	1	0	0	intronic	intronic	intronic	ADAMTS2	ADAMTS2	ENSG00000087116	Na	Na	Na	Na	Na	Na	Het;G>C	374;10|13	Hom;G>C	387;0|14
N	N	-	5	17872945	17872945	T	C	snp	ncRNA_intronic	 	 	 	 	BC028204																		rs12153438	0.585463	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	LOC401177(dist=485526),CDH18(dist=1600210)	BC028204	ENSG00000249937	Na	Na	Na	Na	Na	Na	Het;T>C	92;1|4	Hom;T>C	139;0|4
N	N	-	5	17872982	17872982	A	T	snp	ncRNA_intronic	 	 	 	 	BC028204																		rs12153358	0.585663	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	LOC401177(dist=485563),CDH18(dist=1600173)	BC028204	ENSG00000249937	Na	Na	Na	Na	Na	Na	Het;A>T	196;3|8	Hom;A>T	172;0|7
N	N	-	5	180036871	180036871	C	G	snp	intronic	 	 	 	 	FLT4	Flt4	ENSG00000037280	fms related tyrosine kinase 4	chr5:180028506-180076624	This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]	Lymphedema; solid tumors; Chylothorax; Chronic renal failure|Kidney Failure, Chronic; Lymphangiectasis|Lymphedema; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholism; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth	Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema.	VEGF binds to VEGFR leading to receptor dimerization	GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0003016;respiratory system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048286;lung alveolus development;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0090037;positive regulation of protein kinase C signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FLT4	https://www.uniprot.org/uniprot/P35916	https://hpo.jax.org/app/browse/search?q=FLT4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136352	http://www.informatics.jax.org/searchtool/Search.do?query=FLT4&submit=Quick%0D%789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT4	rs2242219	0.086861	0.0557	0.0686	1	0	0	intronic	intronic	intronic	FLT4	FLT4	ENSG00000037280	Na	Na	Na	Na	Na	Na	Het;C>G	1047;22|43	Hom;C>G	1335;0|49
N	N	-	5	180038545	180038545	A	G	snp	intronic	 	 	 	 	FLT4	Flt4	ENSG00000037280	fms related tyrosine kinase 4	chr5:180028506-180076624	This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]	Lymphedema; solid tumors; Chylothorax; Chronic renal failure|Kidney Failure, Chronic; Lymphangiectasis|Lymphedema; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholism; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth	Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema.	VEGF binds to VEGFR leading to receptor dimerization	GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0003016;respiratory system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048286;lung alveolus development;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0090037;positive regulation of protein kinase C signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FLT4	https://www.uniprot.org/uniprot/P35916	https://hpo.jax.org/app/browse/search?q=FLT4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136352	http://www.informatics.jax.org/searchtool/Search.do?query=FLT4&submit=Quick%0D%789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT4	rs744283	0.113019	0	0	1	0	0	intronic	intronic	intronic	FLT4	FLT4	ENSG00000037280	Na	Na	Na	Na	Na	Na	Het;A>G	456;16|23	Hom;A>G	802;0|35
N	N	-	5	180046885	180046885	G	A	snp	intronic	 	 	 	 	FLT4	Flt4	ENSG00000037280	fms related tyrosine kinase 4	chr5:180028506-180076624	This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]	Lymphedema; solid tumors; Chylothorax; Chronic renal failure|Kidney Failure, Chronic; Lymphangiectasis|Lymphedema; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholism; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth	Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema.	VEGF binds to VEGFR leading to receptor dimerization	GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0003016;respiratory system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048286;lung alveolus development;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0090037;positive regulation of protein kinase C signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FLT4	https://www.uniprot.org/uniprot/P35916	https://hpo.jax.org/app/browse/search?q=FLT4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136352	http://www.informatics.jax.org/searchtool/Search.do?query=FLT4&submit=Quick%0D%789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT4	rs10061500	0.0964457	0	0	1	0	0	intronic	intronic	intronic	FLT4	FLT4	ENSG00000037280	Na	Na	Na	Na	Na	Na	Het;G>A	320;15|16	Hom;G>A	626;0|22
N	N	-	5	180048035	180048035	T	C	snp	synonymous SNV	A2238G	G746G	aliphatic,neutral	aliphatic,neutral	FLT4	Flt4	ENSG00000037280	fms related tyrosine kinase 4	chr5:180028506-180076624	This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]	Lymphedema; solid tumors; Chylothorax; Chronic renal failure|Kidney Failure, Chronic; Lymphangiectasis|Lymphedema; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholism; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth	Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema.	VEGF binds to VEGFR leading to receptor dimerization	GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0003016;respiratory system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048286;lung alveolus development;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0090037;positive regulation of protein kinase C signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FLT4	https://www.uniprot.org/uniprot/P35916	https://hpo.jax.org/app/browse/search?q=FLT4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136352	http://www.informatics.jax.org/searchtool/Search.do?query=FLT4&submit=Quick%0D%789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT4	rs2242215	0.096246	0.0546	0.0764	1	0	0	intronic	exonic	intronic	FLT4	FLT4	ENSG00000037280	Na	synonymous SNV	Na	Na	FLT4:uc011dgy.2:exon14:c.A2238G:p.G746G,	Na	Het;T>C	1763;92|78	Hom;T>C	4475;0|146
N	N	-	5	180048056	180048056	C	T	snp	synonymous SNV	G2217A	P739P	hydrophobic,neutral	hydrophobic,neutral	FLT4	Flt4	ENSG00000037280	fms related tyrosine kinase 4	chr5:180028506-180076624	This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]	Lymphedema; solid tumors; Chylothorax; Chronic renal failure|Kidney Failure, Chronic; Lymphangiectasis|Lymphedema; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholism; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth	Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema.	VEGF binds to VEGFR leading to receptor dimerization	GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0003016;respiratory system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048286;lung alveolus development;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0090037;positive regulation of protein kinase C signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0019903;protein phosphatase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FLT4	https://www.uniprot.org/uniprot/P35916	https://hpo.jax.org/app/browse/search?q=FLT4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=136352	http://www.informatics.jax.org/searchtool/Search.do?query=FLT4&submit=Quick%0D%789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT4	rs2242214	0.243211	0.2485	0.2422	1	0	0	intronic	exonic	intronic	FLT4	FLT4	ENSG00000037280	Na	synonymous SNV	Na	Na	FLT4:uc011dgy.2:exon14:c.G2217A:p.P739P,	Na	Het;C>T	1765;95|84	Hom;C>T	4701;0|171
N	N	-	5	180470216	180470240	ATCTGTGTGTGTGTCTATGTGTGTG	A	indel	intronic	 	 	 	 	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs150770371	0	0	0	1	0	0	intronic	intronic	intronic	BTNL9	BTNL9	ENSG00000165810	Na	Na	Na	Na	Na	Na	Het;-TCTGTGTGTGTGTCTATGTGTGTG	242;5|7	Hom;-TCTGTGTGTGTGTCTATGTGTGTG	233;0|6
N	N	-	5	180470263	180470263	T	A	snp	intronic	 	 	 	 	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs78307330	0.49401	0	0	1	0	0	intronic	intronic	intronic	BTNL9	BTNL9	ENSG00000165810	Na	Na	Na	Na	Na	Na	Het;T>A	371;6|10	Hom;T>A	692;0|15
N	N	-	5	180470266	180470266	C	CTA	indel	intronic	 	 	 	 	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs139144946	0.49401	0	0	1	0	0	intronic	intronic	intronic	BTNL9	BTNL9	ENSG00000165810	Na	Na	Na	Na	Na	Na	Het;+TA	362;7|10	Hom;+TA	683;0|15
N	N	-	5	180470547	180470547	T	G	snp	intronic	 	 	 	 	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs6886923	0.489816	0	0	1	0	0	intronic	intronic	intronic	BTNL9	BTNL9	ENSG00000165810	Na	Na	Na	Na	Na	Na	Het;T>G	1098;37|41	Hom;T>G	1952;1|64
N	N	-	5	180472498	180472498	C	T	snp	synonymous SNV	C9T	D3D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs28677846	0.498203	0.5548	0.4911	1	0	0	exonic	exonic	exonic	BTNL9	BTNL9	ENSG00000165810	synonymous SNV	synonymous SNV	unknown	BTNL9:NM_152547:exon2:c.C9T:p.D3D,	BTNL9:uc003mmt.3:exon2:c.C9T:p.D3D,	UNKNOWN	Het;C>T	780;49|40	Hom;C>T	1611;0|61
N	N	-	5	180472513	180472513	A	G	snp	synonymous SNV	A24G	P8P	hydrophobic,neutral	hydrophobic,neutral	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs6894087	0.505192	0.5620	0.4941	1	0	0	exonic	exonic	exonic	BTNL9	BTNL9	ENSG00000165810	synonymous SNV	synonymous SNV	unknown	BTNL9:NM_152547:exon2:c.A24G:p.P8P,	BTNL9:uc003mmt.3:exon2:c.A24G:p.P8P,	UNKNOWN	Het;A>G	854;52|41	Hom;A>G	1801;0|65
N	N	-	5	180477449	180477449	C	G	snp	intronic	 	 	 	 	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs7702426	0.459665	0	0	1	0	0	intronic	intronic	intronic	BTNL9	BTNL9	ENSG00000165810	Na	Na	Na	Na	Na	Na	Het;C>G	233;21|11	Hom;C>G	1011;0|34
N	N	-	5	180482795	180482795	A	T	snp	intronic	 	 	 	 	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs3885614	0.241014	0	0.3124	1	0	0	intronic	intronic	intronic	BTNL9	BTNL9	ENSG00000165810	Na	Na	Na	Na	Na	Na	Het;A>T	48;1|3	Hom;A>T	200;0|6
N	N	-	5	180482899	180482899	C	T	snp	intronic	 	 	 	 	BTNL9	Btnl9	ENSG00000165810	butyrophilin like 9	chr5:180467225-180488523			 	Butyrophilin (BTN) family interactions		GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BTNL9				http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9	rs3885615	0.240815	0	0.3005	1	0	0	intronic	intronic	intronic	BTNL9	BTNL9	ENSG00000165810	Na	Na	Na	Na	Na	Na	Het;C>T	314;10|14	Hom;C>T	602;0|21
N	N	-	5	181660	181660	T	G	snp	synonymous SNV	T3366G	G1122G	aliphatic,neutral	aliphatic,neutral	PLEKHG4B	 	ENSG00000153404	pleckstrin homology and RhoGEF domain containing G4B	chr5:140373-190085			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B	https://www.uniprot.org/uniprot/Q96PX9			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B	rs7717970	0.439097	0.5598	0.5746	1	0	0	exonic	exonic	exonic	PLEKHG4B	PLEKHG4B	ENSG00000153404	synonymous SNV	synonymous SNV	unknown	PLEKHG4B:NM_052909:exon17:c.T3366G:p.G1122G,	PLEKHG4B:uc003jak.2:exon17:c.T3366G:p.G1122G,	UNKNOWN	Het;T>G	913;60|44	Hom;T>G	2111;0|82
N	N	-	5	181730	181730	C	G	snp	nonsynonymous SNV	C3436G	R1146G	polar,hydrophilic,charged(+)	aliphatic,neutral	PLEKHG4B	 	ENSG00000153404	pleckstrin homology and RhoGEF domain containing G4B	chr5:140373-190085			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B	https://www.uniprot.org/uniprot/Q96PX9			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B	rs12519352	0.33147	0.4164	0.4659	0.50	6	12	exonic	exonic	exonic	PLEKHG4B	PLEKHG4B	ENSG00000153404	nonsynonymous SNV	nonsynonymous SNV	unknown	PLEKHG4B:NM_052909:exon17:c.C3436G:p.R1146G,	PLEKHG4B:uc003jak.2:exon17:c.C3436G:p.R1146G,	UNKNOWN	Het;C>G	1461;92|77	Hom;C>G	3190;0|120
N	N	-	5	181762	181762	A	G	snp	synonymous SNV	A3468G	R1156R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PLEKHG4B	 	ENSG00000153404	pleckstrin homology and RhoGEF domain containing G4B	chr5:140373-190085			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B	https://www.uniprot.org/uniprot/Q96PX9			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B	rs11133847	0.435503	0.5535	0.5757	1	0	0	exonic	exonic	exonic	PLEKHG4B	PLEKHG4B	ENSG00000153404	synonymous SNV	synonymous SNV	unknown	PLEKHG4B:NM_052909:exon17:c.A3468G:p.R1156R,	PLEKHG4B:uc003jak.2:exon17:c.A3468G:p.R1156R,	UNKNOWN	Het;A>G	1581;69|70	Hom;A>G	3311;0|116
N	N	-	5	182077	182077	T	A	snp	intronic	 	 	 	 	PLEKHG4B	 	ENSG00000153404	pleckstrin homology and RhoGEF domain containing G4B	chr5:140373-190085			 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B	https://www.uniprot.org/uniprot/Q96PX9			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B	rs4956924	0.353634	0.4369	0.4742	1	0	0	intronic	intronic	intronic	PLEKHG4B	PLEKHG4B	ENSG00000153404	Na	Na	Na	Na	Na	Na	Het;T>A	876;23|39	Hom;T>A	1675;0|59
N	N	-	5	1899523	1899523	A	G	snp	ncRNA_exonic	 	 	 	 	CTD-2194D22.4																		rs168999	0.319888	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	CTD-2194D22.4	IRX4(dist=12230),IRX2(dist=846756)	ENSG00000249326	Na	Na	Na	Na	Na	Na	Het;A>G	2366;114|100	Hom;A>G	5437;0|183
N	N	-	5	1900631	1900631	G	C	snp	downstream	 	 	 	 	CTD-2194D22.4																		rs187759	0.308307	0	0	1	0	0	downstream	intergenic	downstream	CTD-2194D22.4	IRX4(dist=13338),IRX2(dist=845648)	ENSG00000249326	Na	Na	Na	Na	Na	Na	Het;G>C	843;22|37	Hom;G>C	1107;2|42
N	N	-	5	19330305	19330305	A	G	snp	intergenic	 	 	 	 	HSPD1P15																		rs2942320	0.316693	0	0	1	0	0	intergenic	intergenic	intergenic	LOC401177(dist=1942886),CDH18(dist=142850)	BC028204(dist=1399707),CDH18(dist=142850)	ENSG00000249557(dist=95709),ENSG00000145526(dist=142836)	Na	Na	Na	Na	Na	Na	Het;A>G	72;7|4	Hom;A>G	136;0|4
N	N	-	5	195507	195507	C	T	snp	upstream;downstream	 	 	 	 	ENSG00000261434																		rs13167067	0.36881	0.4431	0.5119	1	0	0	downstream	downstream	upstream;downstream	LRRC14B	LRRC14B	ENSG00000261434;ENSG00000185028	Na	Na	Na	Na	Na	Na	Het;C>T	411;27|20	Hom;C>T	807;0|27
N	N	-	5	20289300	20289300	T	C	snp	intronic	 	 	 	 	CDH18	Cdh18	ENSG00000145526	cadherin 18	chr5:19473060-20575982	This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]	Exercise Test; Body Weight; Body Mass Index; Tobacco Use Disorder; Hypertrophy, Left Ventricular; C-Reactive Protein	 	Adherens junctions interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH18	https://www.uniprot.org/uniprot/Q13634		https://www.ncbi.nlm.nih.gov/omim/?term=603019	http://www.informatics.jax.org/searchtool/Search.do?query=CDH18&submit=Quick%0D%8750ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH18	rs2974589	0.553914	0	0	1	0	0	intronic	intronic	intronic	CDH18	CDH18	ENSG00000145526	Na	Na	Na	Na	Na	Na	Het;T>C	74;2|3	Hom;T>C	221;0|6
N	N	-	5	20700168	20700168	T	C	snp	ncRNA_intronic	 	 	 	 	AK093362																		rs6890947	0.807508	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	CDH18(dist=124186),GUSBP1(dist=759421)	AK093362	ENSG00000251629	Na	Na	Na	Na	Na	Na	Het;T>C	1104;47|44	Hom;T>C	1936;0|67
N	N	-	5	20700696	20700700	CACAT	C	indel	ncRNA_intronic	 	 	 	 	AK093362																		rs755702198	0	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	CDH18(dist=124714),GUSBP1(dist=758889)	AK093362	ENSG00000251629	Na	Na	Na	Na	Na	Na	Het;-ACAT	291;28|14	Hom;-ACAT	607;0|15
N	N	-	5	20701678	20701678	A	G	snp	ncRNA_intronic	 	 	 	 	AK093362																		rs6893376	0.795727	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	CDH18(dist=125696),GUSBP1(dist=757911)	AK093362	ENSG00000251629	Na	Na	Na	Na	Na	Na	Het;A>G	1349;49|57	Hom;A>G	2049;0|71
N	N	-	5	20702574	20702574	G	GT	indel	ncRNA_intronic	 	 	 	 	AK093362																		rs367967708	0.530152	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	CDH18(dist=126592),GUSBP1(dist=757015)	AK093362	ENSG00000251629	Na	Na	Na	Na	Na	Na	Het;+T	279;25|17	Hom;+T	1000;4|35
N	N	-	5	21189035	21189035	G	A	snp	intergenic	 	 	 	 	LINC02241																		rs460674	0.376597	0	0	1	0	0	intergenic	intergenic	intergenic	CDH18(dist=613053),GUSBP1(dist=270554)	AK093362(dist=251235),NONE(dist=NONE)	ENSG00000251629(dist=251235),ENSG00000248286(dist=7794)	Na	Na	Na	Na	Na	Na	Het;G>A	829;33|35	Hom;G>A	1156;2|50
N	N	-	5	21371611	21371611	A	G	snp	ncRNA_intronic	 	 	 	 	GUSBP1																		rs62349868	0.381589	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CDH18(dist=795629),GUSBP1(dist=87978)	NONE(dist=NONE),NONE(dist=NONE)	ENSG00000183666	Na	Na	Na	Na	Na	Na	Het;A>G	172;25|12	Hom;A>G	848;0|33
N	N	-	5	21461786	21461786	T	A	snp	ncRNA_intronic	 	 	 	 	GUSBP1																		rs4701564	0.379593	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	GUSBP1	GUSBP1	ENSG00000183666	Na	Na	Na	Na	Na	Na	Het;T>A	110;12|5	Hom;T>A	537;0|15
N	N	-	5	21478101	21478101	G	A	snp	ncRNA_intronic	 	 	 	 	GUSBP1																		rs62347222	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	GUSBP1	GUSBP1	ENSG00000183666	Na	Na	Na	Na	Na	Na	Het;G>A	311;13|11	Hom;G>A	733;0|21
N	N	-	5	21478123	21478123	C	T	snp	ncRNA_intronic	 	 	 	 	GUSBP1																		rs62347223	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	GUSBP1	GUSBP1	ENSG00000183666	Na	Na	Na	Na	Na	Na	Het;C>T	122;6|4	Hom;C>T	332;0|8
N	N	-	5	21481159	21481159	T	A	snp	ncRNA_intronic	 	 	 	 	GUSBP1																		rs12108854	0.375	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	GUSBP1	GUSBP1	ENSG00000183666	Na	Na	Na	Na	Na	Na	Het;T>A	3030;38|130	Hom;T>A	6883;0|256
N	N	-	5	21491833	21491833	C	G	snp	ncRNA_intronic	 	 	 	 	GUSBP1																		rs9763333	0	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	GUSBP1	GUSBP1	ENSG00000183666	Na	Na	Na	Na	Na	Na	Het;C>G	202;6|7	Hom;C>G	170;0|5
N	N	-	5	21497271	21497271	T	A	snp	ncRNA_exonic	 	 	 	 	GUSBP1																		rs4701278	0.577077	0	0.5062	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	GUSBP1	GUSBP1(uc010iub.3:c.*40T>A)	ENSG00000183666	Na	Na	Na	Na	Na	Na	Het;T>A	21414;195|941	Hom;T>A	45754;0|1712
N	N	-	5	218598	218598	G	A	snp	intronic	 	 	 	 	SDHA	Sdha	ENSG00000073578	succinate dehydrogenase complex flavoprotein subunit A	chr5:218356-256815	This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis	 	Citric acid cycle (TCA cycle)	GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA	GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDHA	https://www.uniprot.org/uniprot/P31040	https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600857	http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA	rs2303740	0.329872	0	0	1	0	0	intronic	intronic	intronic	SDHA	SDHA	ENSG00000073578	Na	Na	Na	Na	Na	Na	Het;G>A	118;2|6	Hom;G>A	472;0|20
N	N	-	5	22302471	22302471	A	G	snp	intronic	 	 	 	 	CDH12	Cdh12	ENSG00000154162	cadherin 12	chr5:21750782-22853731	This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]	Depressive Disorder, Major; Tunica Media; Body Composition; Bipolar Disorder; Audiometry, Pure-Tone; Hemoglobin A, Glycosylated; esophageal adenocarcinoma; waist circumference; Waist Circumference; Tobacco Use Disorder	 	Adherens junctions interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH12	https://www.uniprot.org/uniprot/P55289		https://www.ncbi.nlm.nih.gov/omim/?term=600562	http://www.informatics.jax.org/searchtool/Search.do?query=CDH12&submit=Quick%0D%9737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH12	rs3099037	0.384185	0	0	1	0	0	intronic	intronic	intronic	CDH12	CDH12	ENSG00000154162	Na	Na	Na	Na	Na	Na	Het;A>G	461;43|24	Hom;A>G	1764;0|65
N	N	-	5	223415	223415	C	T	snp	intronic	 	 	 	 	SDHA	Sdha	ENSG00000073578	succinate dehydrogenase complex flavoprotein subunit A	chr5:218356-256815	This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis	 	Citric acid cycle (TCA cycle)	GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA	GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDHA	https://www.uniprot.org/uniprot/P31040	https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600857	http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA	rs6874572	0.653155	0	0	1	0	0	intronic	intronic	intronic	SDHA	SDHA	ENSG00000073578	Na	Na	Na	Na	Na	Na	Het;C>T	221;1|6	Hom;C>T	321;0|10
N	N	-	5	225768	225768	G	C	snp	intronic	 	 	 	 	SDHA	Sdha	ENSG00000073578	succinate dehydrogenase complex flavoprotein subunit A	chr5:218356-256815	This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis	 	Citric acid cycle (TCA cycle)	GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA	GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDHA	https://www.uniprot.org/uniprot/P31040	https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600857	http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA	rs12520059	0.329273	0	0	1	0	0	intronic	intronic	intronic	SDHA	SDHA	ENSG00000073578	Na	Na	Na	Na	Na	Na	Het;G>C	1149;58|49	Hom;G>C	2585;4|83
N	N	-	5	24498690	24498690	T	C	snp	intronic	 	 	 	 	CDH10	Cdh10	ENSG00000040731	cadherin 10	chr5:24487209-24645087	This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. Mutations in this gene may be associated with lung squamous cell carcinoma and colorectal cancer in human patients. [provided by RefSeq, Nov 2015]	Stroke; Forced Vital Capacity; Hippocampus; Fibrinogen; Coronary Artery Disease; Body Height; Autism; Autistic Disorder; Tobacco Use Disorder; Mental Competency; Uric Acid; Heart Failure; Exercise Test; Amyotrophic Lateral Sclerosis	 	Adherens junctions interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH10	https://www.uniprot.org/uniprot/Q9Y6N8		https://www.ncbi.nlm.nih.gov/omim/?term=604555	http://www.informatics.jax.org/searchtool/Search.do?query=CDH10&submit=Quick%0D%822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH10	rs3815909	0.33726	0	0	1	0	0	intronic	intronic	intronic	CDH10	CDH10	ENSG00000040731	Na	Na	Na	Na	Na	Na	Het;T>C	753;42|34	Hom;T>C	2515;0|87
N	N	-	5	25090716	25090716	T	G	snp	intergenic	 	 	 	 	Y_RNA																		rs7701392	0.267372	0	0	1	0	0	intergenic	intergenic	intergenic	LOC340107(dist=250024),CDH9(dist=1789993)	LOC340107(dist=250024),TRNA_Lys(dist=1107823)	ENSG00000199911(dist=179912),ENSG00000251273(dist=35698)	Na	Na	Na	Na	Na	Na	Het;T>G	600;28|29	Hom;T>G	1503;2|59
N	N	-	5	25189050	25189050	A	T	snp	ncRNA_intronic	 	 	 	 	LINC02228																		rs55894853	0.80611	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC340107(dist=348358),CDH9(dist=1691659)	LOC340107(dist=348358),TRNA_Lys(dist=1009489)	ENSG00000251273	Na	Na	Na	Na	Na	Na	Het;A>T	494;24|22	Hom;A>T	1240;0|43
N	N	-	5	25190282	25190282	A	G	snp	ncRNA_intronic	 	 	 	 	LINC02228																		rs7732673	0.802516	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC340107(dist=349590),CDH9(dist=1690427)	LOC340107(dist=349590),TRNA_Lys(dist=1008257)	ENSG00000251273	Na	Na	Na	Na	Na	Na	Het;A>G	1584;47|67	Hom;A>G	2983;0|100
N	N	-	5	2755485	2755485	C	T	snp	unknown	 	 	 	 	C5orf38	 	ENSG00000186493	chromosome 5 open reading frame 38	chr5:2752245-2755508		Heart Failure; Hypertrophy, Left Ventricular; Calcium; Amyotrophic Lateral Sclerosis; Hemoglobins; Stroke; Waist-Hip Ratio	 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C5orf38			https://www.ncbi.nlm.nih.gov/omim/?term=610522	http://www.informatics.jax.org/searchtool/Search.do?query=C5orf38&submit=Quick%0D%15657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5orf38	rs62333235	0.296725	0	0.4784	0.25	1	4	UTR3	UTR3	exonic	C5orf38(NM_001294337:c.*330C>T,NM_178569:c.*330C>T)	C5orf38(uc003jdc.3:c.*330C>T,uc011cmg.2:c.*354C>T,uc011cmj.3:c.*330C>T)	ENSG00000186493	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	505;46|29	Hom;C>T	1703;0|66
N	N	-	5	289642	289642	G	A	snp	ncRNA_exonic	 	 	 	 	AC021087.2																		rs6555127	0.312899	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PDCD6	PDCD6	ENSG00000250848	Na	Na	Na	Na	Na	Na	Het;G>A	303;9|15	Hom;G>A	719;0|30
N	N	-	5	29848890	29848890	G	A	snp	ncRNA_exonic	 	 	 	 	AC010374.2																		rs10068185	0.348243	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101929681(dist=452807),CDH6(dist=1344872)	AK098570(dist=676425),CDH6(dist=1344872)	ENSG00000249744	Na	Na	Na	Na	Na	Na	Het;G>A	407;30|21	Hom;G>A	1517;0|54
N	N	-	5	29882044	29882044	G	A	snp	ncRNA_exonic	 	 	 	 	AC010374.1																		rs2115185	0.34385	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101929681(dist=485961),CDH6(dist=1311718)	AK098570(dist=709579),CDH6(dist=1311718)	ENSG00000233787	Na	Na	Na	Na	Na	Na	Het;G>A	1496;76|73	Hom;G>A	5084;0|188
N	N	-	5	29882284	29882284	G	A	snp	ncRNA_exonic	 	 	 	 	AC010374.1																		rs2288448	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101929681(dist=486201),CDH6(dist=1311478)	AK098570(dist=709819),CDH6(dist=1311478)	ENSG00000233787	Na	Na	Na	Na	Na	Na	Het;G>A	471;41|23	Hom;G>A	1813;1|67
N	N	-	5	30765181	30765181	T	TAGAC	indel	intergenic	 	 	 	 	AC114300.1																		rs3059288	0.539337	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101929681(dist=1369098),CDH6(dist=428581)	AK098570(dist=1592716),CDH6(dist=428581)	ENSG00000250118(dist=399390),ENSG00000241668(dist=288491)	Na	Na	Na	Na	Na	Na	Het;+AGAC	226;4|8	Hom;+AGAC	233;0|6
N	N	-	5	31302288	31302288	C	T	snp	synonymous SNV	C882T	D294D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CDH6	Cdh6	ENSG00000113361	cadherin 6	chr5:31193857-31329253	This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]	Body Mass Index; Iron; Myocardial Infarction; Creatinine; Calcium	Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons.	Adherens junctions interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH6	https://www.uniprot.org/uniprot/P55285		https://www.ncbi.nlm.nih.gov/omim/?term=603007	http://www.informatics.jax.org/searchtool/Search.do?query=CDH6&submit=Quick%0D%4353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH6	rs2287582	0.405152	0.4005	0.5084	1	0	0	exonic	exonic	exonic	CDH6	CDH6	ENSG00000113361	synonymous SNV	synonymous SNV	unknown	CDH6:NM_004932:exon6:c.C882T:p.D294D,	CDH6:uc003jhe.2:exon6:c.C882T:p.D294D,CDH6:uc003jhd.2:exon6:c.C882T:p.D294D,	UNKNOWN	Het;C>T	1247;63|61	Hom;C>T	3147;0|120
N	N	-	5	31317529	31317529	A	G	snp	synonymous SNV	A1560G	G520G	aliphatic,neutral	aliphatic,neutral	CDH6	Cdh6	ENSG00000113361	cadherin 6	chr5:31193857-31329253	This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]	Body Mass Index; Iron; Myocardial Infarction; Creatinine; Calcium	Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons.	Adherens junctions interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0034332;adherens junction organization;TAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH6	https://www.uniprot.org/uniprot/P55285		https://www.ncbi.nlm.nih.gov/omim/?term=603007	http://www.informatics.jax.org/searchtool/Search.do?query=CDH6&submit=Quick%0D%4353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH6	rs2302903	0.503794	0.5085	0.5396	1	0	0	exonic	exonic	exonic	CDH6	CDH6	ENSG00000113361	synonymous SNV	synonymous SNV	unknown	CDH6:NM_004932:exon10:c.A1560G:p.G520G,	CDH6:uc003jhe.2:exon10:c.A1560G:p.G520G,CDH6:uc003jhd.2:exon10:c.A1560G:p.G520G,	UNKNOWN	Het;A>G	992;140|62	Hom;A>G	4008;3|144
N	N	-	5	31407139	31407139	G	C	snp	intronic	 	 	 	 	DROSHA	Drosha	ENSG00000113360	drosha ribonuclease III	chr5:31400604-31532303	This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]	lung cancer; Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; esophageal cancer ; Carcinoma, Renal Cell|Kidney Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Tobacco Use Disorder	Mice heterozygous for a knock-out allele and a conditional allele activated in the immune system exhibit increased inflammation in multiple systems, cachexia and premature death.	MicroRNA (miRNA) biogenesis	GO:0006396;RNA processing;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010586;miRNA metabolic process;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0016075;rRNA catabolic process;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IDA|GO:0031054;pre-miRNA processing;IEA|GO:0042254;ribosome biogenesis;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA|GO:2000628;regulation of miRNA metabolic process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0070877;microprocessor complex;IDA	GO:0001530;lipopolysaccharide binding;IDA|GO:0003723;RNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IEA|GO:0004525;ribonuclease III activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0017151;DEAD/H-box RNA helicase binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046332;SMAD binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070412;R-SMAD binding;IPI|GO:0070878;primary miRNA binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DROSHA	https://www.uniprot.org/uniprot/Q9NRR4		https://www.ncbi.nlm.nih.gov/omim/?term=608828	http://www.informatics.jax.org/searchtool/Search.do?query=DROSHA&submit=Quick%0D%4352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DROSHA	rs507816	0.598642	0	0	1	0	0	intronic	intronic	intronic	DROSHA	DROSHA	ENSG00000113360	Na	Na	Na	Na	Na	Na	Het;G>C	224;10|9	Hom;G>C	351;0|10
N	N	-	5	31705027	31705027	G	T	snp	intronic	 	 	 	 	PDZD2	Pdzd2	ENSG00000133401	PDZ domain containing 2	chr5:31639517-32111037	The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose; Monocytes; Respiratory Function Tests	Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.		GO:0007155;cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005911;cell-cell junction;ISS		http://www.genecards.org/index.php?path=/Search/keyword/PDZD2	https://www.uniprot.org/uniprot/O15018		https://www.ncbi.nlm.nih.gov/omim/?term=610697	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD2&submit=Quick%0D%6834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD2	rs1968845	0.570088	0	0	1	0	0	intergenic	intronic	intronic	C5orf22(dist=149862),PDZD2(dist=94004)	PDZD2	ENSG00000133401	Na	Na	Na	Na	Na	Na	Het;G>T	56;1|4	Hom;G>T	670;0|27
N	N	-	5	31782259	31782259	G	A	snp	intronic	 	 	 	 	PDZD2	Pdzd2	ENSG00000133401	PDZ domain containing 2	chr5:31639517-32111037	The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose; Monocytes; Respiratory Function Tests	Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.		GO:0007155;cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005911;cell-cell junction;ISS		http://www.genecards.org/index.php?path=/Search/keyword/PDZD2	https://www.uniprot.org/uniprot/O15018		https://www.ncbi.nlm.nih.gov/omim/?term=610697	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD2&submit=Quick%0D%6834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD2	rs12517489	0.169129	0	0	1	0	0	intergenic	intronic	intronic	C5orf22(dist=227094),PDZD2(dist=16772)	PDZD2	ENSG00000133401	Na	Na	Na	Na	Na	Na	Het;G>A	153;4|9	Hom;G>A	256;0|11
N	N	-	5	31782300	31782300	G	A	snp	intronic	 	 	 	 	PDZD2	Pdzd2	ENSG00000133401	PDZ domain containing 2	chr5:31639517-32111037	The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose; Monocytes; Respiratory Function Tests	Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.		GO:0007155;cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005911;cell-cell junction;ISS		http://www.genecards.org/index.php?path=/Search/keyword/PDZD2	https://www.uniprot.org/uniprot/O15018		https://www.ncbi.nlm.nih.gov/omim/?term=610697	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD2&submit=Quick%0D%6834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD2	rs6897524	0.504393	0	0	1	0	0	intergenic	intronic	intronic	C5orf22(dist=227135),PDZD2(dist=16731)	PDZD2	ENSG00000133401	Na	Na	Na	Na	Na	Na	Het;G>A	212;4|6	Hom;G>A	242;0|6
N	N	-	5	31782304	31782304	T	C	snp	intronic	 	 	 	 	PDZD2	Pdzd2	ENSG00000133401	PDZ domain containing 2	chr5:31639517-32111037	The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Glucose; Monocytes; Respiratory Function Tests	Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.		GO:0007155;cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005911;cell-cell junction;ISS		http://www.genecards.org/index.php?path=/Search/keyword/PDZD2	https://www.uniprot.org/uniprot/O15018		https://www.ncbi.nlm.nih.gov/omim/?term=610697	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD2&submit=Quick%0D%6834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD2	rs1864120	0.524161	0	0	1	0	0	intergenic	intronic	intronic	C5orf22(dist=227139),PDZD2(dist=16727)	PDZD2	ENSG00000133401	Na	Na	Na	Na	Na	Na	Het;T>C	215;3|6	Hom;T>C	242;0|6
N	N	-	5	32248077	32248077	C	T	snp	intronic	 	 	 	 	MTMR12	Mtmr12	ENSG00000150712	myotubularin related protein 12	chr5:32227100-32313115	Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]	Tobacco Use Disorder	 	Synthesis of PIPs at the early endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:1901998;toxin transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0019208;phosphatase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTMR12	https://www.uniprot.org/uniprot/Q9C0I1		https://www.ncbi.nlm.nih.gov/omim/?term=606501	http://www.informatics.jax.org/searchtool/Search.do?query=MTMR12&submit=Quick%0D%9343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR12	rs11960898	0.351438	0.3142	0.3645	1	0	0	intronic	intronic	intronic	MTMR12	MTMR12	ENSG00000150712	Na	Na	Na	Na	Na	Na	Het;C>T	292;30|18	Hom;C>T	903;0|32
N	N	-	5	32263099	32263099	G	T	snp	intronic	 	 	 	 	MTMR12	Mtmr12	ENSG00000150712	myotubularin related protein 12	chr5:32227100-32313115	Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]	Tobacco Use Disorder	 	Synthesis of PIPs at the early endosome membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:1901998;toxin transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0019208;phosphatase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTMR12	https://www.uniprot.org/uniprot/Q9C0I1		https://www.ncbi.nlm.nih.gov/omim/?term=606501	http://www.informatics.jax.org/searchtool/Search.do?query=MTMR12&submit=Quick%0D%9343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR12	rs61418287	0.478035	0	0	1	0	0	intronic	intronic	intronic	MTMR12	MTMR12	ENSG00000150712	Na	Na	Na	Na	Na	Na	Het;G>T	295;5|11	Hom;G>T	161;0|6
N	N	-	5	32379210	32379210	G	A	snp	intronic	 	 	 	 	ZFR	Zfr	ENSG00000056097	zinc finger RNA binding protein	chr5:32354456-32444867	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]	Autosomal recessive spastic paraplegia type 71	Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9.		GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR	https://www.uniprot.org/uniprot/Q96KR1	https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615635	http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR	rs1862636	0.91893	0.9599	0.9362	1	0	0	intronic	intronic	intronic	ZFR	ZFR	ENSG00000056097	Na	Na	Na	Na	Na	Na	Het;G>A	573;31|28	Hom;G>A	2043;0|76
N	N	-	5	32385903	32385903	G	A	snp	intronic	 	 	 	 	ZFR	Zfr	ENSG00000056097	zinc finger RNA binding protein	chr5:32354456-32444867	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]	Autosomal recessive spastic paraplegia type 71	Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9.		GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR	https://www.uniprot.org/uniprot/Q96KR1	https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615635	http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR	rs4867435	0.910942	0	0	1	0	0	intronic	intronic	intronic	ZFR	ZFR	ENSG00000056097	Na	Na	Na	Na	Na	Na	Het;G>A	58;4|3	Hom;G>A	147;0|5
N	N	-	5	32395502	32395502	C	T	snp	intronic	 	 	 	 	ZFR	Zfr	ENSG00000056097	zinc finger RNA binding protein	chr5:32354456-32444867	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]	Autosomal recessive spastic paraplegia type 71	Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9.		GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR	https://www.uniprot.org/uniprot/Q96KR1	https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615635	http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR	rs2910932	0	0	0	1	0	0	intronic	intronic	intronic	ZFR	ZFR	ENSG00000056097	Na	Na	Na	Na	Na	Na	Het;C>T	244;11|10	Hom;C>T	425;0|14
N	N	-	5	32400266	32400266	A	G	snp	nonsynonymous SNV	T1559C	I520T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ZFR	Zfr	ENSG00000056097	zinc finger RNA binding protein	chr5:32354456-32444867	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]	Autosomal recessive spastic paraplegia type 71	Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9.		GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR	https://www.uniprot.org/uniprot/Q96KR1	https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615635	http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR	rs1051489	0.232827	0.2653	0.3087	0.31	4	13	exonic	exonic	exonic	ZFR	ZFR	ENSG00000056097	nonsynonymous SNV	nonsynonymous SNV	unknown	ZFR:NM_016107:exon9:c.T1559C:p.I520T,	ZFR:uc003jhr.1:exon9:c.T1559C:p.I520T,	UNKNOWN	Het;A>G	285;30|15	Hom;A>G	2191;0|77
N	N	-	5	32403346	32403346	C	T	snp	nonsynonymous SNV	G1381A	V461I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZFR	Zfr	ENSG00000056097	zinc finger RNA binding protein	chr5:32354456-32444867	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]	Autosomal recessive spastic paraplegia type 71	Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9.		GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR	https://www.uniprot.org/uniprot/Q96KR1	https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615635	http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR	rs4867440	0.91853	0.9599	0.9362	0.08	1	13	exonic	exonic	exonic	ZFR	ZFR	ENSG00000056097	nonsynonymous SNV	nonsynonymous SNV	unknown	ZFR:NM_016107:exon8:c.G1381A:p.V461I,	ZFR:uc003jhr.1:exon8:c.G1381A:p.V461I,	UNKNOWN	Het;C>T	1728;126|88	Hom;C>T	4213;0|154
N	N	-	5	32415360	32415361	TA	T	indel	intronic	 	 	 	 	ZFR	Zfr	ENSG00000056097	zinc finger RNA binding protein	chr5:32354456-32444867	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]	Autosomal recessive spastic paraplegia type 71	Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9.		GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR	https://www.uniprot.org/uniprot/Q96KR1	https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615635	http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR	rs397997293	0.92472	0	0	1	0	0	intronic	intronic	intronic	ZFR	ZFR	ENSG00000056097	Na	Na	Na	Na	Na	Na	Het;-A	430;14|19	Hom;-A	1098;0|38
N	N	-	5	32417694	32417694	G	A	snp	intronic	 	 	 	 	ZFR	Zfr	ENSG00000056097	zinc finger RNA binding protein	chr5:32354456-32444867	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]	Autosomal recessive spastic paraplegia type 71	Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9.		GO:0007275;multicellular organism development;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFR	https://www.uniprot.org/uniprot/Q96KR1	https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615635	http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR	rs178935	0.91893	0	0	1	0	0	intronic	intronic	intronic	ZFR	ZFR	ENSG00000056097	Na	Na	Na	Na	Na	Na	Het;G>A	231;8|10	Hom;G>A	446;0|17
N	N	-	5	32947917	32947917	C	A	snp	ncRNA_exonic	 	 	 	 	LOC340113																		rs2877293	0.303714	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC340113	LOC340113	ENSG00000248279	Na	Na	Na	Na	Na	Na	Het;C>A	897;63|49	Hom;C>A	2401;0|90
N	N	-	5	32949080	32949080	G	T	snp	ncRNA_exonic	 	 	 	 	LOC340113																		rs4867491	0.314696	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC340113	LOC340113	ENSG00000248279	Na	Na	Na	Na	Na	Na	Het;G>T	358;29|20	Hom;G>T	1234;0|45
N	N	-	5	33012502	33012502	T	C	snp	ncRNA_intronic	 	 	 	 	AC034223.1																		rs1876656	0.48722	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC340113(dist=49929),TARS(dist=428300)	LOC340113(dist=49929),5S_rRNA(dist=265448)	ENSG00000249102,ENSG00000250697,ENSG00000251281	Na	Na	Na	Na	Na	Na	Het;T>C	604;15|29	Hom;T>C	1003;0|39
N	N	-	5	33535060	33535060	G	A	snp	nonsynonymous SNV	C4484T	T1495I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ADAMTS12	Adamts12	ENSG00000281690	ADAM metallopeptidase with thrombospondin type 1 motif 12	chr5:33523640-33892297	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Cholesterol; Mortality; Cholesterol, LDL; Heart Failure	Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis.					http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS12			https://www.ncbi.nlm.nih.gov/omim/?term=606184	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS12&submit=Quick%0D%22327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS12	rs25754	0.599641	0.4612	0.4902	0.31	4	13	exonic	exonic	exonic	ADAMTS12	ADAMTS12	ENSG00000151388	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTS12:NM_030955:exon23:c.C4484T:p.T1495I,	ADAMTS12:uc010iuq.1:exon21:c.C4229T:p.T1410I,ADAMTS12:uc003jia.1:exon23:c.C4484T:p.T1495I,	UNKNOWN	Het;G>A	320;46|21	Hom;G>A	1514;0|60
N	N	-	5	33546113	33546114	TA	T	indel	intronic	 	 	 	 	ADAMTS12	Adamts12	ENSG00000281690	ADAM metallopeptidase with thrombospondin type 1 motif 12	chr5:33523640-33892297	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Cholesterol; Mortality; Cholesterol, LDL; Heart Failure	Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis.					http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS12			https://www.ncbi.nlm.nih.gov/omim/?term=606184	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS12&submit=Quick%0D%22327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS12	rs11338120	0.490016	0	0.5389	1	0	0	intronic	intronic	intronic	ADAMTS12	ADAMTS12	ENSG00000151388	Na	Na	Na	Na	Na	Na	Het;-A	522;5|31	Hom;-A	607;4|36
N	N	-	5	33589017	33589017	A	G	snp	intronic	 	 	 	 	ADAMTS12	Adamts12	ENSG00000281690	ADAM metallopeptidase with thrombospondin type 1 motif 12	chr5:33523640-33892297	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Cholesterol; Mortality; Cholesterol, LDL; Heart Failure	Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis.					http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS12			https://www.ncbi.nlm.nih.gov/omim/?term=606184	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS12&submit=Quick%0D%22327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS12	rs4242083	0.927117	0	0	1	0	0	intronic	intronic	intronic	ADAMTS12	ADAMTS12	ENSG00000151388	Na	Na	Na	Na	Na	Na	Het;A>G	464;16|16	Hom;A>G	1073;0|33
N	N	-	5	343885	343885	T	C	snp	intronic	 	 	 	 	AHRR	Ahrr	ENSG00000063438	aryl-hydrocarbon receptor repressor	chr5:304291-438406	The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]	null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia	Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors.	Aryl hydrocarbon receptor signalling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AHRR	https://www.uniprot.org/uniprot/A9YTQ3		https://www.ncbi.nlm.nih.gov/omim/?term=606517	http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR	rs2292631	0.380591	0	0	1	0	0	intronic	intronic	intronic	AHRR	AHRR	ENSG00000063438,ENSG00000249915	Na	Na	Na	Na	Na	Na	Het;T>C	144;6|6	Hom;T>C	228;0|7
N	N	-	5	35318352	35318352	A	G	snp	intergenic	 	 	 	 	PRLR	Prlr	ENSG00000113494	prolactin receptor	chr5:35048861-35230794	This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]	multiple sclerosis; lupus erythematosus; breast cancer; Breast Neoplasms|Fibroadenoma; autism; Tissue Plasminogen Activator; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Hemoglobin A, Glycosylated; Iron; prostate cancer; Abortion, Habitual|Infertility, Female; breast cancer|prostate cancer; childhood-onset mood disorders; Lymphoma, Non-Hodgkin; systemic lupus erythematosus; Tunica Media; Glucose; Blood Pressure; several psychiatric disorders; POF - Premature ovarian failure|Primary Ovarian Insufficiency; Triglycerides; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit abnormal growth, hormone and glucose homeostasis, hair cycling, female reproductive behavior, morphology, and function, and thyroid, prostate, Hardarian, and lacrimal gland morphologies. Heterozygous mice exhibit defective neuron proliferation.	Growth hormone receptor signaling	GO:0006694;steroid biosynthetic process;NAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IDA|GO:0007259;JAK-STAT cascade;IEA|GO:0007566;embryo implantation;TAS|GO:0007595;lactation;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030856;regulation of epithelial cell differentiation;IEA|GO:0038161;prolactin signaling pathway;IEA|GO:0042110;T cell activation;NAS|GO:0042976;activation of Janus kinase activity;NAS|GO:0043066;negative regulation of apoptotic process;NAS|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0060644;mammary gland epithelial cell differentiation;IEA|GO:0060736;prostate gland growth;IEA|GO:0060749;mammary gland alveolus development;IEA|GO:0061180;mammary gland epithelium development;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031904;endosome lumen;TAS	GO:0004896;cytokine receptor activity;IEA|GO:0004925;prolactin receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017046;peptide hormone binding;IPI|GO:0042803;protein homodimerization activity;NAS|GO:0042978;ornithine decarboxylase activator activity;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRLR	https://www.uniprot.org/uniprot/P16471	https://hpo.jax.org/app/browse/search?q=PRLR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176761	http://www.informatics.jax.org/searchtool/Search.do?query=PRLR&submit=Quick%0D%4368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRLR	rs71615850	0.344649	0	0	1	0	0	intergenic	intergenic	intergenic	PRLR(dist=87661),SPEF2(dist=299637)	PRLR(dist=87529),SPEF2(dist=299637)	ENSG00000113494(dist=87558),ENSG00000201368(dist=110814)	Na	Na	Na	Na	Na	Na	Het;A>G	687;31|30	Hom;A>G	1759;0|51
N	N	-	5	354051	354051	T	C	snp	intronic	 	 	 	 	AHRR	Ahrr	ENSG00000063438	aryl-hydrocarbon receptor repressor	chr5:304291-438406	The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]	null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia	Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors.	Aryl hydrocarbon receptor signalling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AHRR	https://www.uniprot.org/uniprot/A9YTQ3		https://www.ncbi.nlm.nih.gov/omim/?term=606517	http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR	rs2013782	0.508387	0.6029	0.5732	1	0	0	intronic	intronic	intronic	AHRR	AHRR	ENSG00000063438	Na	Na	Na	Na	Na	Na	Het;T>C	1260;38|55	Hom;T>C	1779;0|63
N	N	-	5	3566191	3566191	T	C	snp	intergenic	 	 	 	 	LINC01019																		rs828310	0.404353	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01019(dist=29983),IRX1(dist=29977)	LOC285577(dist=29983),IRX1(dist=29977)	ENSG00000248118(dist=29983),ENSG00000170549(dist=29977)	Na	Na	Na	Na	Na	Na	Het;T>C	439;14|22	Hom;T>C	565;0|22
N	N	-	5	35876274	35876274	A	G	snp	nonsynonymous SNV	A1066G	I356V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IL7R	Il7r	ENSG00000168685	interleukin 7 receptor	chr5:35852797-35879705	The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]	chronic obstructive pulmonary disease; allergy; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; bladder cancer; Helicobacter Infections|Stomach Neoplasms; Tobacco Use Disorder; Lung Diseases|Lymphomatoid Granulomatosis|Sarcoidosis|Syndrome; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; longevity; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1 ; multiple sclerosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity; type 1 diabetes; lung cancer ; Multiple Sclerosis; lung cancer; Celiac Disease|; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; null; Dermatitis, Atopic|Eczema allergic|Kaposi Varicelliform Eruption; HIV Infections|[X]Human immunodeficiency virus disease; Lymphoma, Large B-Cell, Diffuse; Hyperparathyroidism, Secondary; stem cell transplantation	Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses.	Interleukin-7 signaling	GO:0000018;regulation of DNA recombination;TAS|GO:0000902;cell morphogenesis;IEA|GO:0001915;negative regulation of T cell mediated cytotoxicity;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008361;regulation of cell size;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016049;cell growth;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030217;T cell differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0038111;interleukin-7-mediated signaling pathway;IEA|GO:0042100;B cell proliferation;IEA|GO:0048535;lymph node development;IEA|GO:0048872;homeostasis of number of cells;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003823;antigen binding;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0004917;interleukin-7 receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL7R		https://hpo.jax.org/app/browse/search?q=IL7R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146661	http://www.informatics.jax.org/searchtool/Search.do?query=IL7R&submit=Quick%0D%12324ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL7R	rs3194051	0.220847	0.2932	0.2445	0.15	2	13	exonic	exonic	exonic	IL7R	IL7R	ENSG00000168685	nonsynonymous SNV	nonsynonymous SNV	unknown	IL7R:NM_002185:exon8:c.A1066G:p.I356V,	IL7R:uc003jjs.4:exon8:c.A1066G:p.I356V,	UNKNOWN	Het;A>G	1419;69|62	Hom;A>G	3458;0|126
N	N	-	5	35877841	35877841	G	A	snp	UTR3	*1253G>A	 	 	 	IL7R	Il7r	ENSG00000168685	interleukin 7 receptor	chr5:35852797-35879705	The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]	chronic obstructive pulmonary disease; allergy; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; bladder cancer; Helicobacter Infections|Stomach Neoplasms; Tobacco Use Disorder; Lung Diseases|Lymphomatoid Granulomatosis|Sarcoidosis|Syndrome; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; longevity; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1 ; multiple sclerosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity; type 1 diabetes; lung cancer ; Multiple Sclerosis; lung cancer; Celiac Disease|; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; null; Dermatitis, Atopic|Eczema allergic|Kaposi Varicelliform Eruption; HIV Infections|[X]Human immunodeficiency virus disease; Lymphoma, Large B-Cell, Diffuse; Hyperparathyroidism, Secondary; stem cell transplantation	Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses.	Interleukin-7 signaling	GO:0000018;regulation of DNA recombination;TAS|GO:0000902;cell morphogenesis;IEA|GO:0001915;negative regulation of T cell mediated cytotoxicity;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008361;regulation of cell size;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016049;cell growth;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030217;T cell differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0038111;interleukin-7-mediated signaling pathway;IEA|GO:0042100;B cell proliferation;IEA|GO:0048535;lymph node development;IEA|GO:0048872;homeostasis of number of cells;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003823;antigen binding;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0004917;interleukin-7 receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL7R		https://hpo.jax.org/app/browse/search?q=IL7R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146661	http://www.informatics.jax.org/searchtool/Search.do?query=IL7R&submit=Quick%0D%12324ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL7R	rs10491435	0.23722	0	0	1	0	0	UTR3	UTR3	UTR3	IL7R(NM_002185:c.*1253G>A)	IL7R(uc003jjs.4:c.*1253G>A)	ENSG00000168685(ENST00000303115:c.*1253G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	2123;111|97	Hom;G>A	4643;0|164
N	N	-	5	35877914	35877914	A	G	snp	UTR3	*1326A>G	 	 	 	IL7R	Il7r	ENSG00000168685	interleukin 7 receptor	chr5:35852797-35879705	The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]	chronic obstructive pulmonary disease; allergy; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; bladder cancer; Helicobacter Infections|Stomach Neoplasms; Tobacco Use Disorder; Lung Diseases|Lymphomatoid Granulomatosis|Sarcoidosis|Syndrome; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; longevity; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1 ; multiple sclerosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity; type 1 diabetes; lung cancer ; Multiple Sclerosis; lung cancer; Celiac Disease|; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; null; Dermatitis, Atopic|Eczema allergic|Kaposi Varicelliform Eruption; HIV Infections|[X]Human immunodeficiency virus disease; Lymphoma, Large B-Cell, Diffuse; Hyperparathyroidism, Secondary; stem cell transplantation	Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses.	Interleukin-7 signaling	GO:0000018;regulation of DNA recombination;TAS|GO:0000902;cell morphogenesis;IEA|GO:0001915;negative regulation of T cell mediated cytotoxicity;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008361;regulation of cell size;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016049;cell growth;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030217;T cell differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0038111;interleukin-7-mediated signaling pathway;IEA|GO:0042100;B cell proliferation;IEA|GO:0048535;lymph node development;IEA|GO:0048872;homeostasis of number of cells;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003823;antigen binding;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0004917;interleukin-7 receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL7R		https://hpo.jax.org/app/browse/search?q=IL7R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146661	http://www.informatics.jax.org/searchtool/Search.do?query=IL7R&submit=Quick%0D%12324ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL7R	rs10491434	0.264577	0	0	1	0	0	UTR3	UTR3	UTR3	IL7R(NM_002185:c.*1326A>G)	IL7R(uc003jjs.4:c.*1326A>G)	ENSG00000168685(ENST00000303115:c.*1326A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	2085;92|91	Hom;A>G	4184;0|142
N	N	-	5	35879429	35879429	T	C	snp	UTR3	*2841T>C	 	 	 	IL7R	Il7r	ENSG00000168685	interleukin 7 receptor	chr5:35852797-35879705	The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]	chronic obstructive pulmonary disease; allergy; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; bladder cancer; Helicobacter Infections|Stomach Neoplasms; Tobacco Use Disorder; Lung Diseases|Lymphomatoid Granulomatosis|Sarcoidosis|Syndrome; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; longevity; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1 ; multiple sclerosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity; type 1 diabetes; lung cancer ; Multiple Sclerosis; lung cancer; Celiac Disease|; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; null; Dermatitis, Atopic|Eczema allergic|Kaposi Varicelliform Eruption; HIV Infections|[X]Human immunodeficiency virus disease; Lymphoma, Large B-Cell, Diffuse; Hyperparathyroidism, Secondary; stem cell transplantation	Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses.	Interleukin-7 signaling	GO:0000018;regulation of DNA recombination;TAS|GO:0000902;cell morphogenesis;IEA|GO:0001915;negative regulation of T cell mediated cytotoxicity;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008361;regulation of cell size;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016049;cell growth;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030217;T cell differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0038111;interleukin-7-mediated signaling pathway;IEA|GO:0042100;B cell proliferation;IEA|GO:0048535;lymph node development;IEA|GO:0048872;homeostasis of number of cells;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003823;antigen binding;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0004917;interleukin-7 receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL7R		https://hpo.jax.org/app/browse/search?q=IL7R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146661	http://www.informatics.jax.org/searchtool/Search.do?query=IL7R&submit=Quick%0D%12324ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL7R	rs1053496	0.264577	0	0	1	0	0	UTR3	UTR3	UTR3	IL7R(NM_002185:c.*2841T>C)	IL7R(uc003jjs.4:c.*2841T>C)	ENSG00000168685(ENST00000303115:c.*2841T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	2710;76|118	Hom;T>C	3944;0|138
N	N	-	5	35879595	35879595	A	G	snp	UTR3	*3007A>G	 	 	 	IL7R	Il7r	ENSG00000168685	interleukin 7 receptor	chr5:35852797-35879705	The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]	chronic obstructive pulmonary disease; allergy; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; bladder cancer; Helicobacter Infections|Stomach Neoplasms; Tobacco Use Disorder; Lung Diseases|Lymphomatoid Granulomatosis|Sarcoidosis|Syndrome; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; longevity; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1 ; multiple sclerosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity; type 1 diabetes; lung cancer ; Multiple Sclerosis; lung cancer; Celiac Disease|; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; null; Dermatitis, Atopic|Eczema allergic|Kaposi Varicelliform Eruption; HIV Infections|[X]Human immunodeficiency virus disease; Lymphoma, Large B-Cell, Diffuse; Hyperparathyroidism, Secondary; stem cell transplantation	Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses.	Interleukin-7 signaling	GO:0000018;regulation of DNA recombination;TAS|GO:0000902;cell morphogenesis;IEA|GO:0001915;negative regulation of T cell mediated cytotoxicity;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008361;regulation of cell size;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016049;cell growth;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030217;T cell differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0038111;interleukin-7-mediated signaling pathway;IEA|GO:0042100;B cell proliferation;IEA|GO:0048535;lymph node development;IEA|GO:0048872;homeostasis of number of cells;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003823;antigen binding;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0004917;interleukin-7 receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL7R		https://hpo.jax.org/app/browse/search?q=IL7R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146661	http://www.informatics.jax.org/searchtool/Search.do?query=IL7R&submit=Quick%0D%12324ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL7R	rs700179	0.264577	0	0	1	0	0	UTR3	UTR3	UTR3	IL7R(NM_002185:c.*3007A>G)	IL7R(uc003jjs.4:c.*3007A>G)	ENSG00000168685(ENST00000303115:c.*3007A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1533;67|65	Hom;A>G	3583;2|133
N	N	-	5	36241955	36241955	T	C	snp	intronic	 	 	 	 	NADK2	Nadk2	ENSG00000152620	NAD kinase 2, mitochondrial	chr5:36192694-36242381	This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]	24-@DIENOYL-CoA REDUCTASE DEFICIENCY (1 family)	Mice homozygous for knock-out allele exhibit increased serum lysine and carnitine levels, develop increased reactive oxygen species levels and hepatic steatosis on an atherogenic high-fat diet, and show impaired fasting-induced fatty acid oxidation.	Nicotinate metabolism	GO:0006741;NADP biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0019674;NAD metabolic process;TAS	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NADK2	https://www.uniprot.org/uniprot/Q4G0N4	https://hpo.jax.org/app/browse/search?q=NADK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615787	http://www.informatics.jax.org/searchtool/Search.do?query=NADK2&submit=Quick%0D%9575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NADK2	rs74717771	0.40655	0	0	1	0	0	intronic	intronic	intronic	NADK2	NADKD1	ENSG00000152620	Na	Na	Na	Na	Na	Na	Het;T>C	486;27|26	Hom;T>C	617;0|23
N	N	-	5	36242354	36242354	A	G	snp	UTR5	-16640T>C	 	 	 	NADK2	Nadk2	ENSG00000152620	NAD kinase 2, mitochondrial	chr5:36192694-36242381	This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]	24-@DIENOYL-CoA REDUCTASE DEFICIENCY (1 family)	Mice homozygous for knock-out allele exhibit increased serum lysine and carnitine levels, develop increased reactive oxygen species levels and hepatic steatosis on an atherogenic high-fat diet, and show impaired fasting-induced fatty acid oxidation.	Nicotinate metabolism	GO:0006741;NADP biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0019674;NAD metabolic process;TAS	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NADK2	https://www.uniprot.org/uniprot/Q4G0N4	https://hpo.jax.org/app/browse/search?q=NADK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615787	http://www.informatics.jax.org/searchtool/Search.do?query=NADK2&submit=Quick%0D%9575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NADK2	rs10075150	0.422923	0	0	1	0	0	UTR5	upstream	UTR5	NADK2(NM_153013:c.-16640T>C,NM_001287341:c.-16640T>C)	NADKD1	ENSG00000152620(ENST00000506945:c.-16640T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	94;6|4	Hom;A>G	539;0|15
N	N	-	5	36265710	36265710	C	T	snp	intronic	 	 	 	 	RANBP3L	Ranbp3l	ENSG00000164188	RAN binding protein 3 like	chr5:36248536-36302216		Coronary Artery Disease; Triglycerides; Body Height; Attention Deficit Disorder with Hyperactivity; Iron; Blood Pressure; Body Weights and Measures	 		GO:0000082;G1/S transition of mitotic cell cycle;IBA|GO:0006405;RNA export from nucleus;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0006606;protein import into nucleus;IBA|GO:0007051;spindle organization;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045663;positive regulation of myoblast differentiation;ISS|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0046604;positive regulation of mitotic centrosome separation;IBA|GO:0046907;intracellular transport;IEA|GO:1901706;mesenchymal cell differentiation involved in bone development;ISS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IBA	GO:0005096;GTPase activator activity;IBA|GO:0008536;Ran GTPase binding;IBA|GO:0046332;SMAD binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RANBP3L			https://www.ncbi.nlm.nih.gov/omim/?term=616391	http://www.informatics.jax.org/searchtool/Search.do?query=RANBP3L&submit=Quick%0D%11239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RANBP3L	rs10473005	0.076278	0	0	1	0	0	intronic	intronic	intronic	RANBP3L	RANBP3L	ENSG00000164188	Na	Na	Na	Na	Na	Na	Het;C>T	61;2|3	Hom;C>T	91;0|4
N	N	-	5	36269475	36269475	G	A	snp	intronic	 	 	 	 	RANBP3L	Ranbp3l	ENSG00000164188	RAN binding protein 3 like	chr5:36248536-36302216		Coronary Artery Disease; Triglycerides; Body Height; Attention Deficit Disorder with Hyperactivity; Iron; Blood Pressure; Body Weights and Measures	 		GO:0000082;G1/S transition of mitotic cell cycle;IBA|GO:0006405;RNA export from nucleus;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0006606;protein import into nucleus;IBA|GO:0007051;spindle organization;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045663;positive regulation of myoblast differentiation;ISS|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0046604;positive regulation of mitotic centrosome separation;IBA|GO:0046907;intracellular transport;IEA|GO:1901706;mesenchymal cell differentiation involved in bone development;ISS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IBA	GO:0005096;GTPase activator activity;IBA|GO:0008536;Ran GTPase binding;IBA|GO:0046332;SMAD binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RANBP3L			https://www.ncbi.nlm.nih.gov/omim/?term=616391	http://www.informatics.jax.org/searchtool/Search.do?query=RANBP3L&submit=Quick%0D%11239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RANBP3L	rs78742059	0.076278	0.0132	0.0456	1	0	0	intronic	intronic	intronic	RANBP3L	RANBP3L	ENSG00000164188	Na	Na	Na	Na	Na	Na	Het;G>A	521;34|27	Hom;G>A	1499;2|58
N	N	-	5	36451329	36451329	C	T	snp	intergenic	 	 	 	 	RANBP3L	Ranbp3l	ENSG00000164188	RAN binding protein 3 like	chr5:36248536-36302216		Coronary Artery Disease; Triglycerides; Body Height; Attention Deficit Disorder with Hyperactivity; Iron; Blood Pressure; Body Weights and Measures	 		GO:0000082;G1/S transition of mitotic cell cycle;IBA|GO:0006405;RNA export from nucleus;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0006606;protein import into nucleus;IBA|GO:0007051;spindle organization;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045663;positive regulation of myoblast differentiation;ISS|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0046604;positive regulation of mitotic centrosome separation;IBA|GO:0046907;intracellular transport;IEA|GO:1901706;mesenchymal cell differentiation involved in bone development;ISS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IBA	GO:0005096;GTPase activator activity;IBA|GO:0008536;Ran GTPase binding;IBA|GO:0046332;SMAD binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RANBP3L			https://www.ncbi.nlm.nih.gov/omim/?term=616391	http://www.informatics.jax.org/searchtool/Search.do?query=RANBP3L&submit=Quick%0D%11239ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RANBP3L	rs4869481	0.328474	0	0	1	0	0	intergenic	intergenic	intergenic	RANBP3L(dist=149318),SLC1A3(dist=155128)	RANBP3L(dist=149318),SLC1A3(dist=155128)	ENSG00000164188(dist=149113),ENSG00000222178(dist=34116)	Na	Na	Na	Na	Na	Na	Het;C>T	303;13|16	Hom;C>T	1038;0|38
N	N	-	5	39375082	39375082	C	T	snp	intronic	 	 	 	 	DAB2	Dab2	ENSG00000153071	DAB2, clathrin adaptor protein	chr5:39371780-39462402	This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Crohn Disease; Kidney Diseases; Inflammatory Bowel Diseases; Triglycerides; ovarian cancer; Waist-Hip Ratio; Platelet Count; Albumins; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative; Insulin; Body Mass Index; Tobacco Use Disorder; Blood Cells; Alzheimer's disease ; Forced Expiratory Volume; Meningeal Neoplasms|meningioma; Echocardiography; Chronic renal failure|Kidney Failure, Chronic; Pancreatic Neoplasms; Spondylitis, Ankylosing; Alcoholism; Multiple Sclerosis; Neutrophils	Homozygous null mutants exhibit abnormal primitive endoderm structure, and/or function, lack a proamniotic cavity and die prior to embryonic, day 9.5. A conditional mutant survives, but shows kidney proximal 	Clathrin-mediated endocytosis	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;TAS|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0015031;protein transport;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0035026;leading edge cell differentiation;IMP|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045807;positive regulation of endocytosis;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:0061024;membrane organization;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:1903077;negative regulation of protein localization to plasma membrane;IMP|GO:2000096;positive regulation of Wnt signaling pathway, planar cell polarity pathway;IMP|GO:2000370;positive regulation of clathrin-dependent endocytosis;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IMP	GO:0001650;fibrillar center;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070022;transforming growth factor beta receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0035615;clathrin adaptor activity;IMP|GO:0038024;cargo receptor activity;IMP|GO:0046332;SMAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DAB2	https://www.uniprot.org/uniprot/P98082		https://www.ncbi.nlm.nih.gov/omim/?term=601236	http://www.informatics.jax.org/searchtool/Search.do?query=DAB2&submit=Quick%0D%9625ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAB2	rs2686162	0.346046	0.3973	0.4364	1	0	0	intronic	intronic	intronic	DAB2	DAB2	ENSG00000153071	Na	Na	Na	Na	Na	Na	Het;C>T	407;12|18	Hom;C>T	1086;0|37
N	N	-	5	39377418	39377418	G	A	snp	intronic	 	 	 	 	DAB2	Dab2	ENSG00000153071	DAB2, clathrin adaptor protein	chr5:39371780-39462402	This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Crohn Disease; Kidney Diseases; Inflammatory Bowel Diseases; Triglycerides; ovarian cancer; Waist-Hip Ratio; Platelet Count; Albumins; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative; Insulin; Body Mass Index; Tobacco Use Disorder; Blood Cells; Alzheimer's disease ; Forced Expiratory Volume; Meningeal Neoplasms|meningioma; Echocardiography; Chronic renal failure|Kidney Failure, Chronic; Pancreatic Neoplasms; Spondylitis, Ankylosing; Alcoholism; Multiple Sclerosis; Neutrophils	Homozygous null mutants exhibit abnormal primitive endoderm structure, and/or function, lack a proamniotic cavity and die prior to embryonic, day 9.5. A conditional mutant survives, but shows kidney proximal 	Clathrin-mediated endocytosis	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;TAS|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0015031;protein transport;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0035026;leading edge cell differentiation;IMP|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045807;positive regulation of endocytosis;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:0061024;membrane organization;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:1903077;negative regulation of protein localization to plasma membrane;IMP|GO:2000096;positive regulation of Wnt signaling pathway, planar cell polarity pathway;IMP|GO:2000370;positive regulation of clathrin-dependent endocytosis;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IMP	GO:0001650;fibrillar center;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070022;transforming growth factor beta receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0035615;clathrin adaptor activity;IMP|GO:0038024;cargo receptor activity;IMP|GO:0046332;SMAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DAB2	https://www.uniprot.org/uniprot/P98082		https://www.ncbi.nlm.nih.gov/omim/?term=601236	http://www.informatics.jax.org/searchtool/Search.do?query=DAB2&submit=Quick%0D%9625ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAB2	rs2738238	0.334864	0.3851	0.4347	1	0	0	intronic	intronic	intronic	DAB2	DAB2	ENSG00000153071	Na	Na	Na	Na	Na	Na	Het;G>A	523;42|26	Hom;G>A	1741;0|66
N	N	-	5	39394493	39394493	G	C	snp	UTR5	-71C>G	 	 	 	DAB2	Dab2	ENSG00000153071	DAB2, clathrin adaptor protein	chr5:39371780-39462402	This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Crohn Disease; Kidney Diseases; Inflammatory Bowel Diseases; Triglycerides; ovarian cancer; Waist-Hip Ratio; Platelet Count; Albumins; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative; Insulin; Body Mass Index; Tobacco Use Disorder; Blood Cells; Alzheimer's disease ; Forced Expiratory Volume; Meningeal Neoplasms|meningioma; Echocardiography; Chronic renal failure|Kidney Failure, Chronic; Pancreatic Neoplasms; Spondylitis, Ankylosing; Alcoholism; Multiple Sclerosis; Neutrophils	Homozygous null mutants exhibit abnormal primitive endoderm structure, and/or function, lack a proamniotic cavity and die prior to embryonic, day 9.5. A conditional mutant survives, but shows kidney proximal 	Clathrin-mediated endocytosis	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;TAS|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0015031;protein transport;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0035026;leading edge cell differentiation;IMP|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045807;positive regulation of endocytosis;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:0061024;membrane organization;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:1903077;negative regulation of protein localization to plasma membrane;IMP|GO:2000096;positive regulation of Wnt signaling pathway, planar cell polarity pathway;IMP|GO:2000370;positive regulation of clathrin-dependent endocytosis;IMP|GO:2000643;positive regulation of early endosome to late endosome transport;IMP	GO:0001650;fibrillar center;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070022;transforming growth factor beta receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0035615;clathrin adaptor activity;IMP|GO:0038024;cargo receptor activity;IMP|GO:0046332;SMAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DAB2	https://www.uniprot.org/uniprot/P98082		https://www.ncbi.nlm.nih.gov/omim/?term=601236	http://www.informatics.jax.org/searchtool/Search.do?query=DAB2&submit=Quick%0D%9625ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAB2	rs1050903	0.219649	0	0	1	0	0	UTR5	UTR5	UTR5	DAB2(NM_001343:c.-71C>G,NM_001244871:c.-71C>G)	DAB2(uc003jlx.3:c.-71C>G,uc003jlw.3:c.-71C>G)	ENSG00000153071(ENST00000545653:c.-71C>G,ENST00000320816:c.-71C>G,ENST00000339788:c.-71C>G,ENST00000509337:c.-71C>G,ENST00000507539:c.-71C>G,ENST00000511792:c.-71C>G,ENST00000503513:c.-71C>G,ENST00000515700:c.-71C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	458;23|18	Hom;G>C	683;0|21
N	N	-	5	39924983	39924983	A	T	snp	intergenic	 	 	 	 	GCSHP1																		rs529134	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101926940(dist=400173),LINC00603(dist=127410)	BC026261(dist=462583),U1(dist=344677)	ENSG00000248651(dist=35822),ENSG00000250048(dist=127410)	Na	Na	Na	Na	Na	Na	Het;A>T	763;43|37	Hom;A>T	1756;0|65
N	N	-	5	40152377	40152377	A	G	snp	intergenic	 	 	 	 	KRT18P56																		rs2548149	0.540136	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00603(dist=98951),PTGER4(dist=527655)	BC026261(dist=689977),U1(dist=117283)	ENSG00000249668(dist=85075),ENSG00000250585(dist=108382)	Na	Na	Na	Na	Na	Na	Het;A>G	255;42|16	Hom;A>G	1770;0|71
N	N	-	5	40553462	40553462	C	G	snp	intergenic	 	 	 	 	ENSG00000265615																		rs4957322	0.562101	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00603(dist=500036),PTGER4(dist=126570)	U1(dist=283641),PTGER4(dist=126570)	ENSG00000265615(dist=232945),ENSG00000199552(dist=101603)	Na	Na	Na	Na	Na	Na	Het;C>G	359;20|14	Hom;C>G	1016;0|38
N	N	-	5	40603605	40603605	A	G	snp	intergenic	 	 	 	 	ENSG00000265615																		rs4409138	0.755591	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00603(dist=550179),PTGER4(dist=76427)	U1(dist=333784),PTGER4(dist=76427)	ENSG00000265615(dist=283088),ENSG00000199552(dist=51460)	Na	Na	Na	Na	Na	Na	Het;A>G	118;3|5	Hom;A>G	294;0|8
N	N	-	5	41008650	41008650	A	G	snp	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs2271705	0.778155	0	0	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;A>G	283;10|12	Hom;A>G	497;1|18
N	N	-	5	41008780	41008780	A	G	snp	nonsynonymous SNV	T3536C	L1179P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs2271704	0.78155	0.8385	0.8028	0.15	2	13	exonic	exonic	exonic	MROH2B	MROH2B	ENSG00000171495	nonsynonymous SNV	nonsynonymous SNV	unknown	MROH2B:NM_173489:exon33:c.T3536C:p.L1179P,	MROH2B:uc003jmj.4:exon33:c.T3536C:p.L1179P,MROH2B:uc003jmi.4:exon23:c.T2201C:p.L734P,	UNKNOWN	Het;A>G	1217;53|56	Hom;A>G	2812;2|103
N	N	-	5	41018677	41018677	T	C	snp	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs6862217	0.776957	0	0	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;T>C	31;4|2	Hom;T>C	229;0|7
N	N	-	5	41033112	41033112	G	A	snp	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs4957367	0.523363	0.6139	0.6172	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;G>A	990;52|47	Hom;G>A	2767;0|101
N	N	-	5	41039430	41039430	G	C	snp	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs7700901	0.529353	0	0	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;G>C	73;5|3	Hom;G>C	479;0|14
N	N	-	5	41045835	41045835	C	G	snp	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs6864243	0	0.6075	0.6239	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;C>G	986;40|42	Hom;C>G	2178;0|69
N	N	-	5	41048533	41048533	C	T	snp	nonsynonymous SNV	G1577A	R526H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs13173930	0.235024	0.3215	0.3300	0.31	4	13	exonic	exonic	exonic	MROH2B	MROH2B	ENSG00000171495	nonsynonymous SNV	nonsynonymous SNV	unknown	MROH2B:NM_173489:exon16:c.G1577A:p.R526H,	MROH2B:uc003jmj.4:exon16:c.G1577A:p.R526H,MROH2B:uc003jmi.4:exon6:c.G242A:p.R81H,	UNKNOWN	Het;C>T	916;54|43	Hom;C>T	2809;0|103
N	N	-	5	41069734	41069734	C	T	snp	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs10512757	0.19369	0.3029	0	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;C>T	485;21|25	Hom;C>T	755;0|27
N	N	-	5	41069852	41069852	T	C	snp	nonsynonymous SNV	A31G	M11V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs13174484	0.236422	0.3343	0.3686	0.08	1	13	exonic	exonic	exonic	MROH2B	MROH2B	ENSG00000171495	nonsynonymous SNV	nonsynonymous SNV	unknown	MROH2B:NM_173489:exon2:c.A31G:p.M11V,	MROH2B:uc003jmj.4:exon2:c.A31G:p.M11V,MROH2B:uc021xxt.1:exon2:c.A31G:p.M11V,	UNKNOWN	Het;T>C	943;81|51	Hom;T>C	2508;0|93
N	N	-	5	41069952	41069956	CCTCT	C	indel	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs147291567	0.238818	0	0	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;-CTCT	216;7|7	Hom;-CTCT	579;0|14
N	N	-	5	41070840	41070840	C	T	snp	intronic	 	 	 	 	MROH2B	Mroh2b	ENSG00000171495	maestro heat like repeat family member 2B	chr5:40998119-41071444		Multiple Sclerosis; Hip; Tobacco Use Disorder	 		GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MROH2B				http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B	rs1423391	0.281949	0.3905	0	1	0	0	intronic	intronic	intronic	MROH2B	MROH2B	ENSG00000171495	Na	Na	Na	Na	Na	Na	Het;C>T	169;9|9	Hom;C>T	398;0|14
N	N	-	5	41154150	41154150	A	C	snp	intronic	 	 	 	 	C6	C6	ENSG00000039537	complement C6	chr5:41142336-41261540	This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]	Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Macular Degeneration; Malaria, Falciparum; Lymphoma, Non-Hodgkin; multiple sclerosis; deficiencies of C6; Meningeal Neoplasms|meningioma	Mice homozygous for a spontaneous mutation exhibit decreased susceptibility to ischemia reperfusion-induced renal injury.	Regulation of Complement cascade	GO:0001701;in utero embryonic development;IEA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006955;immune response;IEA|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045917;positive regulation of complement activation;IEA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C6	https://www.uniprot.org/uniprot/P13671	https://hpo.jax.org/app/browse/search?q=C6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=217050	http://www.informatics.jax.org/searchtool/Search.do?query=C6&submit=Quick%0D%811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C6	rs4957374	0.848842	0.8642	0.8563	1	0	0	intronic	intronic	intronic	C6	C6	ENSG00000039537	Na	Na	Na	Na	Na	Na	Het;A>C	254;12|11	Hom;A>C	641;0|22
N	N	-	5	41158671	41158671	T	C	snp	intronic	 	 	 	 	C6	C6	ENSG00000039537	complement C6	chr5:41142336-41261540	This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]	Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Macular Degeneration; Malaria, Falciparum; Lymphoma, Non-Hodgkin; multiple sclerosis; deficiencies of C6; Meningeal Neoplasms|meningioma	Mice homozygous for a spontaneous mutation exhibit decreased susceptibility to ischemia reperfusion-induced renal injury.	Regulation of Complement cascade	GO:0001701;in utero embryonic development;IEA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006955;immune response;IEA|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045917;positive regulation of complement activation;IEA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C6	https://www.uniprot.org/uniprot/P13671	https://hpo.jax.org/app/browse/search?q=C6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=217050	http://www.informatics.jax.org/searchtool/Search.do?query=C6&submit=Quick%0D%811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C6	rs10075985	0.85004	0	0	1	0	0	intronic	intronic	intronic	C6	C6	ENSG00000039537	Na	Na	Na	Na	Na	Na	Het;T>C	289;18|11	Hom;T>C	1398;0|40
N	N	-	5	41381901	41381901	T	TC	indel	intronic	 	 	 	 	PLCXD3	Plcxd3	ENSG00000182836	phosphatidylinositol specific phospholipase C X domain containing 3	chr5:41307056-41510730	miR-34c-3p was able to decrease PLCXD3 expression in mouse (GC-1 and TM4) and human (NCM460) cell lines, presumably indicating the possibility that miR-34c-3p acts as an intracellular mediator in germinal lineage differentiation	Insulin Resistance; Hematocrit; Tobacco Use Disorder; Insulin	 		GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0016042;lipid catabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005737;cytoplasm;IEA	GO:0004871;signal transducer activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCXD3	https://www.uniprot.org/uniprot/Q63HM9		https://www.ncbi.nlm.nih.gov/omim/?term=617016	http://www.informatics.jax.org/searchtool/Search.do?query=PLCXD3&submit=Quick%0D%31ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCXD3	rs35812696	0.636182	0.6900	0.7155	1	0	0	intronic	intronic	intronic	PLCXD3	PLCXD3	ENSG00000182836	Na	Na	Na	Na	Na	Na	Het;+C	534;10|21	Hom;+C	1416;0|45
N	N	-	5	41382691	41382691	C	A	snp	intronic	 	 	 	 	PLCXD3	Plcxd3	ENSG00000182836	phosphatidylinositol specific phospholipase C X domain containing 3	chr5:41307056-41510730	miR-34c-3p was able to decrease PLCXD3 expression in mouse (GC-1 and TM4) and human (NCM460) cell lines, presumably indicating the possibility that miR-34c-3p acts as an intracellular mediator in germinal lineage differentiation	Insulin Resistance; Hematocrit; Tobacco Use Disorder; Insulin	 		GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0016042;lipid catabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005737;cytoplasm;IEA	GO:0004871;signal transducer activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCXD3	https://www.uniprot.org/uniprot/Q63HM9		https://www.ncbi.nlm.nih.gov/omim/?term=617016	http://www.informatics.jax.org/searchtool/Search.do?query=PLCXD3&submit=Quick%0D%31ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCXD3	rs545358	0.822484	0	0	1	0	0	intronic	intronic	intronic	PLCXD3	PLCXD3	ENSG00000182836	Na	Na	Na	Na	Na	Na	Het;C>A	529;10|21	Hom;C>A	1336;0|37
N	N	-	5	4150751	4150751	G	GTCTA	indel	intergenic	 	 	 	 	LINC02063																		rs138286367	0	0	0	1	0	0	intergenic	intergenic	intergenic	IRX1(dist=549234),LOC101929153(dist=622843)	IRX1(dist=549234),BC034630(dist=622870)	ENSG00000250921(dist=6990),ENSG00000260763(dist=286212)	Na	Na	Na	Na	Na	Na	Het;+TCTA	559;3|15	Hom;+TCTA	994;0|23
N	N	-	5	41739684	41739684	G	A	snp	intronic	 	 	 	 	OXCT1	Oxct1	ENSG00000083720	3-oxoacid CoA-transferase 1	chr5:41730167-41870621	This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Echocardiography	Mice homozygous for a knock-out allele exhibit hyperketonemia, ketoacidosis, increased glucose oxidation in the brain, increased autophagy in the brain, and neonatal lethality.	Utilization of Ketone Bodies	GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0014823;response to activity;IEA|GO:0035774;positive regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0042182;ketone catabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0045471;response to ethanol;IEA|GO:0046950;cellular ketone body metabolic process;IMP|GO:0046952;ketone body catabolic process;TAS|GO:0060612;adipose tissue development;IEA	GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0008260;3-oxoacid CoA-transferase activity;TAS|GO:0008410;CoA-transferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OXCT1	https://www.uniprot.org/uniprot/P55809	https://hpo.jax.org/app/browse/search?q=OXCT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601424	http://www.informatics.jax.org/searchtool/Search.do?query=OXCT1&submit=Quick%0D%1834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OXCT1	rs33967331	0.216653	0	0	1	0	0	intronic	intronic	intronic	OXCT1	OXCT1	ENSG00000083720	Na	Na	Na	Na	Na	Na	Het;G>A	305;16|15	Hom;G>A	724;0|27
N	N	-	5	41870675	41870675	T	C	snp	ncRNA_exonic	 	 	 	 	OXCT1-AS1																		rs1876654	0.196486	0	0	1	0	0	ncRNA_intronic	UTR5	ncRNA_exonic	OXCT1-AS1	OXCT1(uc003jmn.3:c.-215A>G)	ENSG00000248668	Na	Na	Na	Na	Na	Na	Het;T>C	371;14|18	Hom;T>C	967;0|38
N	N	-	5	41948041	41948041	A	G	snp	intergenic	 	 	 	 	FBXO4	Fbxo4	ENSG00000151876	F-box protein 4	chr5:41925356-41941845	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]		Mice homozygous or heterozygous for a knock-out allele exhibit increased tumor incidence of lymphoblastic lineage and premature death. Mice homozygous for a different knock-out allele are indistinguishable from wild-type mice.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0007568;aging;IEA|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0016567;protein ubiquitination;IDA|GO:0019725;cellular homeostasis;IEA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0031647;regulation of protein stability;IDA|GO:0031648;protein destabilization;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IC|GO:0035726;common myeloid progenitor cell proliferation;IEA|GO:0043687;post-translational protein modification;TAS|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0071479;cellular response to ionizing radiation;IEA|GO:1900181;negative regulation of protein localization to nucleus;IEA|GO:1902916;positive regulation of protein polyubiquitination;IEA|GO:2000001;regulation of DNA damage checkpoint;IEA	GO:0000151;ubiquitin ligase complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FBXO4	https://www.uniprot.org/uniprot/Q9UKT5		https://www.ncbi.nlm.nih.gov/omim/?term=609090	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO4&submit=Quick%0D%9481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO4	rs13156367	0.123403	0	0	1	0	0	intergenic	intergenic	intergenic	FBXO4(dist=6369),LOC101926960(dist=207894)	FBXO4(dist=6369),AK000840(dist=207894)	ENSG00000151876(dist=6196),ENSG00000239694(dist=3374)	Na	Na	Na	Na	Na	Na	Het;A>G	86;2|4	Hom;A>G	111;0|5
N	N	-	5	42160462	42160462	G	GTCTA	indel	ncRNA_intronic	 	 	 	 	AK000840																		rs369853063	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101926960	AK000840	ENSG00000249266(dist=191994),ENSG00000260786(dist=27906)	Na	Na	Na	Na	Na	Na	Het;+TCTA	309;2|8	Hom;+TCTA	752;0|18
N	N	-	5	422955	422955	C	G	snp	nonsynonymous SNV	C565G	P189A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHRR	Ahrr	ENSG00000063438	aryl-hydrocarbon receptor repressor	chr5:304291-438406	The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]	null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia	Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors.	Aryl hydrocarbon receptor signalling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AHRR	https://www.uniprot.org/uniprot/A9YTQ3		https://www.ncbi.nlm.nih.gov/omim/?term=606517	http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR	rs2292596	0	0.3025	0.3802	0.54	7	13	exonic	exonic	exonic	AHRR	AHRR	ENSG00000063438	nonsynonymous SNV	nonsynonymous SNV	unknown	AHRR:NM_001242412:exon6:c.C565G:p.P189A,AHRR:NM_020731:exon6:c.C565G:p.P189A,	AHRR:uc010isy.3:exon4:c.C103G:p.P35A,AHRR:uc003jaw.3:exon6:c.C565G:p.P189A,AHRR:uc010isz.3:exon6:c.C553G:p.P185A,AHRR:uc003jay.3:exon2:c.C133G:p.P45A,AHRR:uc003jav.3:exon6:c.C565G:p.P189A,	UNKNOWN	Het;C>G	983;89|55	Hom;C>G	2662;2|101
N	N	-	5	433952	433952	C	T	snp	intronic	 	 	 	 	AHRR	Ahrr	ENSG00000063438	aryl-hydrocarbon receptor repressor	chr5:304291-438406	The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]	null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia	Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors.	Aryl hydrocarbon receptor signalling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AHRR	https://www.uniprot.org/uniprot/A9YTQ3		https://www.ncbi.nlm.nih.gov/omim/?term=606517	http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR	rs2672724	0.464457	0.4591	0.4150	1	0	0	intronic	intronic	intronic	AHRR	AHRR	ENSG00000063438	Na	Na	Na	Na	Na	Na	Het;C>T	398;23|21	Hom;C>T	961;0|33
N	N	-	5	434981	434981	G	C	snp	UTR3	*32G>C	 	 	 	AHRR	Ahrr	ENSG00000063438	aryl-hydrocarbon receptor repressor	chr5:304291-438406	The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]	null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia	Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors.	Aryl hydrocarbon receptor signalling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AHRR	https://www.uniprot.org/uniprot/A9YTQ3		https://www.ncbi.nlm.nih.gov/omim/?term=606517	http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR	rs2672725	0.768171	0.8759	0.8314	1	0	0	UTR3	UTR3	UTR3	AHRR(NM_001242412:c.*32G>C,NM_020731:c.*32G>C)	AHRR(uc003jav.3:c.*32G>C,uc010isy.3:c.*32G>C,uc003jaw.3:c.*32G>C,uc010isz.3:c.*32G>C,uc003jax.3:c.*32G>C,uc003jay.3:c.*32G>C,uc003jaz.3:c.*32G>C)	ENSG00000063438(ENST00000316418:c.*32G>C,ENST00000512529:c.*32G>C,ENST00000506456:c.*32G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1621;48|67	Hom;G>C	3004;0|99
N	N	-	5	435055	435055	G	T	snp	UTR3	*106G>T	 	 	 	AHRR	Ahrr	ENSG00000063438	aryl-hydrocarbon receptor repressor	chr5:304291-438406	The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]	null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia	Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors.	Aryl hydrocarbon receptor signalling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AHRR	https://www.uniprot.org/uniprot/A9YTQ3		https://www.ncbi.nlm.nih.gov/omim/?term=606517	http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR	rs2672779	0.469449	0	0	1	0	0	UTR3	UTR3	UTR3	AHRR(NM_001242412:c.*106G>T,NM_020731:c.*106G>T)	AHRR(uc003jav.3:c.*106G>T,uc010isy.3:c.*106G>T,uc003jaw.3:c.*106G>T,uc010isz.3:c.*106G>T,uc003jax.3:c.*106G>T,uc003jay.3:c.*106G>T,uc003jaz.3:c.*106G>T)	ENSG00000063438(ENST00000316418:c.*106G>T,ENST00000506456:c.*106G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	526;7|20	Hom;G>T	713;0|24
N	N	-	5	441845	441845	T	C	snp	UTR3	*733A>G	 	 	 	EXOC3-AS1																		rs2672776	0.48123	0	0	1	0	0	downstream	UTR3	UTR3	EXOC3-AS1	C5orf55(uc010ita.3:c.*733A>G)	ENSG00000221990(ENST00000408966:c.*733A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	144;2|5	Hom;T>C	133;0|4
N	N	-	5	442047	442047	A	G	snp	ncRNA_exonic	 	 	 	 	EXOC3-AS1																		rs2671892	0.48123	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	EXOC3-AS1	C5orf55(uc010ita.3:c.*531T>C)	ENSG00000221990(ENST00000408966:c.*531T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1041;33|44	Hom;A>G	2649;0|100
N	N	-	5	443148	443148	T	A	snp	ncRNA_exonic	 	 	 	 	EXOC3-AS1																		rs2721029	0.766773	0	0	1	0	0	ncRNA_exonic	UTR5	UTR5	EXOC3-AS1	C5orf55(uc010ita.3:c.-211A>T)	ENSG00000221990(ENST00000408966:c.-211A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	511;37|25	Hom;T>A	1203;0|45
N	N	-	5	453567	453567	G	A	snp	synonymous SNV	G447A	E149E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs2672722	0.579073	0.5774	0.5554	1	0	0	exonic	exonic	exonic	EXOC3	EXOC3	ENSG00000180104	synonymous SNV	synonymous SNV	unknown	EXOC3:NM_007277:exon4:c.G447A:p.E149E,	EXOC3:uc003jba.3:exon4:c.G447A:p.E149E,	UNKNOWN	Het;G>A	3153;147|155	Hom;G>A	8879;3|337
N	N	-	5	456915	456915	A	G	snp	intronic	 	 	 	 	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs2721010	0.579673	0	0	1	0	0	intronic	intronic	intronic	EXOC3	EXOC3	ENSG00000180104	Na	Na	Na	Na	Na	Na	Het;A>G	135;3|6	Hom;A>G	255;0|8
N	N	-	5	457249	457249	G	T	snp	intronic	 	 	 	 	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs2672755	0.577476	0	0	1	0	0	intronic	intronic	intronic	EXOC3	EXOC3	ENSG00000180104	Na	Na	Na	Na	Na	Na	Het;G>T	65;4|4	Hom;G>T	320;0|12
N	N	-	5	457955	457955	A	G	snp	intronic	 	 	 	 	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs2251843	0.588858	0	0	1	0	0	intronic	intronic	intronic	EXOC3	EXOC3	ENSG00000180104	Na	Na	Na	Na	Na	Na	Het;A>G	261;20|12	Hom;A>G	914;0|29
N	N	-	5	462465	462465	C	A	snp	unknown	 	 	 	 	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs890972	0.579673	0.5772	0.5223	1	0	0	intronic	intronic	exonic	EXOC3	EXOC3	ENSG00000180104	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>A	249;12|13	Hom;C>A	858;0|31
N	N	-	5	462556	462556	G	A	snp	UTR3	*53G>A	 	 	 	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs2081942	0.472045	0	0	1	0	0	intronic	intronic	UTR3	EXOC3	EXOC3	ENSG00000180104(ENST00000515601:c.*53G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	65;2|3	Hom;G>A	217;0|7
N	N	-	5	466075	466075	G	C	snp	intronic	 	 	 	 	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs10474780	0.660343	0	0	1	0	0	intronic	intronic	intronic	EXOC3	EXOC3	ENSG00000180104	Na	Na	Na	Na	Na	Na	Het;G>C	131;8|7	Hom;G>C	217;0|7
N	N	-	5	466811	466811	T	C	snp	intronic	 	 	 	 	EXOC3	Exoc3	ENSG00000180104	exocyst complex component 3	chr5:443273-472052	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]		 	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0051601;exocyst localization;IBA	GO:0000145;exocyst;IBA|GO:0005829;cytosol;TAS|GO:0030667;secretory granule membrane;TAS	GO:0000149;SNARE binding;IBA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC3			https://www.ncbi.nlm.nih.gov/omim/?term=608186	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC3&submit=Quick%0D%14435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC3	rs2434697	0.791134	0.8964	0.8464	1	0	0	intronic	intronic	intronic	EXOC3	EXOC3	ENSG00000180104	Na	Na	Na	Na	Na	Na	Het;T>C	100;8|5	Hom;T>C	441;0|17
N	N	-	5	470760	470760	G	A	snp	ncRNA_exonic	 	 	 	 	PP7080																		rs1053299	0.792133	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	PP7080	AK023178,PP7080	ENSG00000188242(ENST00000342584:c.*1263C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1087;51|50	Hom;G>A	2283;0|87
N	N	-	5	471494	471494	T	C	snp	ncRNA_exonic	 	 	 	 	PP7080																		rs890973	0.791933	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	PP7080	AK023178,FLJ00157,PP7080	ENSG00000180104(ENST00000515601:c.*3687T>C,ENST00000503889:c.*3387T>C),ENSG00000188242(ENST00000342584:c.*529A>G,ENST00000510604:c.*414A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	2637;91|116	Hom;T>C	7019;2|239
N	N	-	5	472951	472951	T	C	snp	unknown	 	 	 	 	PP7080																		rs890974	0.469649	0	0.4931	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	PP7080	AK023178,PP7080	ENSG00000188242	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	2123;75|96	Hom;T>C	3373;0|121
N	N	-	5	473368	473368	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100288152																		rs34674918	0.473043	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC100288152	SLC9A3(uc003jbe.2:c.*126C>T,uc011clx.1:c.*126C>T)	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;G>A	265;8|13	Hom;G>A	1100;0|42
N	N	-	5	475104	475104	A	G	snp	nonsynonymous SNV	T2395C	C799R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	SLC9A3	Slc9a3	ENSG00000281861	solute carrier family 9 member A3	chr5:473425-524447	The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]	Hyperparathyroidism, Secondary; null; Colitis, Ulcerative; febrile seizures; hypertension; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia	Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.		GO:0006812;cation transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016021;integral component of membrane;IEA	GO:0015299;solute:proton antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC9A3		https://hpo.jax.org/app/browse/search?q=SLC9A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182307	http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A3&submit=Quick%0D%22342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A3	rs2247114	0	0.8713	0.8253	0.15	2	13	exonic	exonic	exonic	SLC9A3	SLC9A3	ENSG00000066230	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC9A3:NM_004174:exon16:c.T2395C:p.C799R,SLC9A3:NM_001284351:exon16:c.T2368C:p.C790R,	SLC9A3:uc003jbe.2:exon16:c.T2395C:p.C799R,SLC9A3:uc011clx.1:exon16:c.T2368C:p.C790R,	UNKNOWN	Het;A>G	1093;53|56	Hom;A>G	4128;0|150
N	N	-	5	475346	475346	A	T	snp	ncRNA_exonic	 	 	 	 	LOC100288152																		rs2247107	0.54393	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;A>T	1821;72|86	Hom;A>T	3848;0|144
N	N	-	5	476530	476530	C	G	snp	ncRNA_exonic	 	 	 	 	LOC100288152																		rs2244240	0.751198	0.8708	0.8226	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;C>G	1858;79|79	Hom;C>G	4744;0|180
N	N	-	5	476848	476848	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100288152																		rs890976	0.511182	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;C>T	509;18|21	Hom;C>T	1319;0|46
N	N	-	5	476910	476910	T	C	snp	ncRNA_intronic	 	 	 	 	LOC100288152																		rs890977	0.804513	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;T>C	168;6|7	Hom;T>C	312;0|12
N	N	-	5	476969	476969	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100288152																		rs890978	0.471446	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;C>T	111;1|5	Hom;C>T	104;0|4
N	N	-	5	477253	477253	A	G	snp	ncRNA_exonic	 	 	 	 	SLC9A3-AS1																		rs890979	0.50599	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;A>G	129;6|6	Hom;A>G	68;0|3
N	N	-	5	477303	477303	A	G	snp	ncRNA_exonic	 	 	 	 	SLC9A3-AS1																		rs890980	0.476438	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;A>G	225;8|10	Hom;A>G	633;0|19
N	N	-	5	477968	477968	G	A	snp	ncRNA_exonic	 	 	 	 	SLC9A3-AS1																		rs2278254	0.482628	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	LOC100288152	SLC9A3	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;G>A	330;26|18	Hom;G>A	1129;0|46
N	N	-	5	479879	479879	G	GC	indel	ncRNA_exonic	 	 	 	 	SLC9A3-AS1																		rs376525752	0.792931	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_exonic	LOC100288152	BC013821(uc011cly.3:c.*802G>GC)	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;+C	568;25|23	Hom;+C	680;0|22
N	N	-	5	479905	479905	A	C	snp	ncRNA_exonic	 	 	 	 	LOC100288152																		rs890986	0.792332	0.8948	0.8458	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC100288152	BC013821(uc011cly.3:c.*828A>C)	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;A>C	524;32|25	Hom;A>C	943;0|33
N	N	-	5	480509	480509	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100288152																		rs2241597	0.794129	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LOC100288152	BC013821(uc011cly.3:c.*1432A>G)	ENSG00000225138	Na	Na	Na	Na	Na	Na	Het;A>G	804;43|36	Hom;A>G	2462;0|92
N	N	-	5	481610	481610	T	C	snp	intronic	 	 	 	 	SLC9A3	Slc9a3	ENSG00000281861	solute carrier family 9 member A3	chr5:473425-524447	The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]	Hyperparathyroidism, Secondary; null; Colitis, Ulcerative; febrile seizures; hypertension; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia	Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.		GO:0006812;cation transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016021;integral component of membrane;IEA	GO:0015299;solute:proton antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC9A3		https://hpo.jax.org/app/browse/search?q=SLC9A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182307	http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A3&submit=Quick%0D%22342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A3	rs6872510	0.801717	0	0	1	0	0	intronic	intronic	intronic	SLC9A3	SLC9A3	ENSG00000066230	Na	Na	Na	Na	Na	Na	Het;T>C	312;10|13	Hom;T>C	1013;0|34
N	N	-	5	482653	482653	T	C	snp	intronic	 	 	 	 	SLC9A3	Slc9a3	ENSG00000281861	solute carrier family 9 member A3	chr5:473425-524447	The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]	Hyperparathyroidism, Secondary; null; Colitis, Ulcerative; febrile seizures; hypertension; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia	Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.		GO:0006812;cation transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016021;integral component of membrane;IEA	GO:0015299;solute:proton antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC9A3		https://hpo.jax.org/app/browse/search?q=SLC9A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182307	http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A3&submit=Quick%0D%22342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A3	rs3777230	0.802716	0.9021	0.8527	1	0	0	intronic	intronic	intronic	SLC9A3	SLC9A3	ENSG00000066230	Na	Na	Na	Na	Na	Na	Het;T>C	437;35|23	Hom;T>C	1427;0|49
N	N	-	5	488298	488298	A	G	snp	intronic	 	 	 	 	SLC9A3	Slc9a3	ENSG00000281861	solute carrier family 9 member A3	chr5:473425-524447	The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]	Hyperparathyroidism, Secondary; null; Colitis, Ulcerative; febrile seizures; hypertension; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia	Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.		GO:0006812;cation transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016021;integral component of membrane;IEA	GO:0015299;solute:proton antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC9A3		https://hpo.jax.org/app/browse/search?q=SLC9A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182307	http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A3&submit=Quick%0D%22342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A3	rs2303736	0.796925	0	0	1	0	0	intronic	intronic	intronic	SLC9A3	SLC9A3	ENSG00000066230	Na	Na	Na	Na	Na	Na	Het;A>G	166;7|6	Hom;A>G	566;0|15
N	N	-	5	491826	491826	G	C	snp	intronic	 	 	 	 	SLC9A3	Slc9a3	ENSG00000281861	solute carrier family 9 member A3	chr5:473425-524447	The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]	Hyperparathyroidism, Secondary; null; Colitis, Ulcerative; febrile seizures; hypertension; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia	Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.		GO:0006812;cation transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA	GO:0016021;integral component of membrane;IEA	GO:0015299;solute:proton antiporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC9A3		https://hpo.jax.org/app/browse/search?q=SLC9A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=182307	http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A3&submit=Quick%0D%22342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A3	rs11746373	0.573682	0	0	1	0	0	intronic	intronic	intronic	SLC9A3	SLC9A3	ENSG00000066230	Na	Na	Na	Na	Na	Na	Het;G>C	303;9|12	Hom;G>C	687;0|22
N	N	-	5	51138536	51138536	C	T	snp	intergenic	 	 	 	 	AC091860.2																		rs12513996	0.390775	0	0	1	0	0	intergenic	intergenic	intergenic	ISL1(dist=447973),PELO(dist=945238)	ISL1(dist=447973),PELO(dist=945238)	ENSG00000251125(dist=380613),ENSG00000251873(dist=43986)	Na	Na	Na	Na	Na	Na	Het;C>T	758;41|40	Hom;C>T	2201;0|83
N	N	-	5	51189310	51189310	A	G	snp	intergenic	 	 	 	 	RNA5SP182																		rs4865693	0.427316	0	0	1	0	0	intergenic	intergenic	intergenic	ISL1(dist=498747),PELO(dist=894464)	ISL1(dist=498747),PELO(dist=894464)	ENSG00000251873(dist=6707),ENSG00000249270(dist=37332)	Na	Na	Na	Na	Na	Na	Het;A>G	34;3|2	Hom;A>G	132;0|4
N	N	-	5	5133444	5133444	T	C	snp	ncRNA_intronic	 	 	 	 	AK094462																		rs751905	0.275559	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CTD-2297D10.2	AK094462	ENSG00000250579	Na	Na	Na	Na	Na	Na	Het;T>C	201;5|9	Hom;T>C	442;0|14
N	N	-	5	5133702	5133702	G	A	snp	ncRNA_intronic	 	 	 	 	AK094462																		rs62338043	0.261182	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CTD-2297D10.2	AK094462	ENSG00000250579	Na	Na	Na	Na	Na	Na	Het;G>A	94;10|6	Hom;G>A	371;1|16
N	N	-	5	5133954	5133954	C	CT	indel	ncRNA_intronic	 	 	 	 	AK094462																		rs397962446	0.314097	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CTD-2297D10.2	AK094462	ENSG00000250579	Na	Na	Na	Na	Na	Na	Het;+T	2744;87|97	Hom;+T	5031;4|151
N	N	-	5	5140970	5140970	C	T	snp	intronic	 	 	 	 	ADAMTS16	Adamts16	ENSG00000145536	ADAM metallopeptidase with thrombospondin type 1 motif 16	chr5:5140443-5320417	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]	Attention Deficit Disorder with Hyperactivity; Metabolism; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Amyotrophic Lateral Sclerosis; Parkinson Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0006508;proteolysis;IEA|GO:1902017;regulation of cilium assembly;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS16	https://www.uniprot.org/uniprot/Q8TE57		https://www.ncbi.nlm.nih.gov/omim/?term=607510	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS16&submit=Quick%0D%8751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS16	rs270206	0.716653	0	0	1	0	0	intronic	intronic	intronic	ADAMTS16	ADAMTS16	ENSG00000145536	Na	Na	Na	Na	Na	Na	Het;C>T	351;7|10	Hom;C>T	504;0|14
N	N	-	5	52223350	52223350	A	G	snp	intronic	 	 	 	 	ITGA1	Itga1	ENSG00000213949	integrin subunit alpha 1	chr5:52083730-52255040	This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]	Bone Mineral Density; diabetes, type 2; liver disease; Type 2 Diabetes| edema | rosiglitazone; Tourette Syndrome; thyroid cancer; ADHD; hearing loss/deafness; coronary artery bypass grafting; platelet hyperreactivity	Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury.	Platelet Adhesion to exposed collagen	GO:0000187;activation of MAPK activity;IEA|GO:0006936;muscle contraction;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;IEA|GO:0042311;vasodilation;IEA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045123;cellular extravasation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0060326;cell chemotaxis;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034665;integrin alpha1-beta1 complex;IDA|GO:0043005;neuron projection;IEA|GO:0043204;perikaryon;IEA|GO:0045121;membrane raft;IEA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS|GO:0019903;protein phosphatase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ITGA1			https://www.ncbi.nlm.nih.gov/omim/?term=192968	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA1&submit=Quick%0D%18190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA1	rs923837	0.36881	0	0	1	0	0	intronic	intronic	intronic	ITGA1	ITGA1	ENSG00000213949	Na	Na	Na	Na	Na	Na	Het;A>G	249;9|9	Hom;A>G	534;0|15
N	N	-	5	5232703	5232703	T	C	snp	intronic	 	 	 	 	ADAMTS16	Adamts16	ENSG00000145536	ADAM metallopeptidase with thrombospondin type 1 motif 16	chr5:5140443-5320417	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]	Attention Deficit Disorder with Hyperactivity; Metabolism; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Amyotrophic Lateral Sclerosis; Parkinson Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0006508;proteolysis;IEA|GO:1902017;regulation of cilium assembly;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS16	https://www.uniprot.org/uniprot/Q8TE57		https://www.ncbi.nlm.nih.gov/omim/?term=607510	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS16&submit=Quick%0D%8751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS16	rs2195290	0.250599	0	0	1	0	0	intronic	intronic	intronic	ADAMTS16	ADAMTS16	ENSG00000145536	Na	Na	Na	Na	Na	Na	Het;T>C	449;14|25	Hom;T>C	1270;0|51
N	N	-	5	52404312	52404312	C	T	snp	intronic	 	 	 	 	MOCS2	Mocs2	ENSG00000164172	molybdenum cofactor synthesis 2	chr5:52391509-52405893	Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]	Molybdenum Cofactor Deficiency	Nullizygous mice show inactivity of all molybdenum-dependent enzymes, slow weight gain, weakness, curly whiskers, hair growth and skin abnormalities, altered levels of purines, uric acid and S-sulfocysteine, bladder and kidney stone formation, increased neuronal apoptosis, and postnatal lethality.	Molybdenum cofactor biosynthesis	GO:0006777;Mo-molybdopterin cofactor biosynthetic process;IDA|GO:0032324;molybdopterin cofactor biosynthetic process;TAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA|GO:0019008;molybdopterin synthase complex;IPI|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0016740;transferase activity;IEA|GO:0030366;molybdopterin synthase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MOCS2		https://hpo.jax.org/app/browse/search?q=MOCS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603708	http://www.informatics.jax.org/searchtool/Search.do?query=MOCS2&submit=Quick%0D%11231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOCS2	rs153602	0.438698	0.5221	0.4572	1	0	0	intronic	intronic	intronic	MOCS2	MOCS2	ENSG00000164172	Na	Na	Na	Na	Na	Na	Het;C>T	802;24|33	Hom;C>T	1538;0|53
N	N	-	5	52560985	52560985	G	A	snp	intergenic	 	 	 	 	AC026477.1																		rs40232	0.766973	0	0	1	0	0	intergenic	intergenic	intergenic	LOC257396(dist=150029),FST(dist=215279)	LOC257396(dist=150033),FST(dist=215279)	ENSG00000213940(dist=57979),ENSG00000240052(dist=148349)	Na	Na	Na	Na	Na	Na	Het;G>A	350;18|18	Hom;G>A	864;0|33
N	N	-	5	52710955	52710955	C	T	snp	downstream	 	 	 	 	AC108114.1																		rs11740124	0.292931	0	0	1	0	0	intergenic	intergenic	downstream	LOC257396(dist=299999),FST(dist=65309)	LOC257396(dist=300003),FST(dist=65309)	ENSG00000240052	Na	Na	Na	Na	Na	Na	Het;C>T	1021;57|49	Hom;C>T	3223;0|117
N	N	-	5	52856504	52856504	G	C	snp	synonymous SNV	G12C	V4V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NDUFS4	Ndufs4	ENSG00000164258	NADH:ubiquinone oxidoreductase subunit S4	chr5:52856463-52979168	This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	prostate cancer; Aging/ Telomere Length; Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration; cognitive trait; Parkinson Disease; drug-related genes 	Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7.	Complex I biogenesis	GO:0001932;regulation of protein phosphorylation;IMP|GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0007420;brain development;IMP|GO:0019933;cAMP-mediated signaling;IMP|GO:0022900;electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0045333;cellular respiration;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0051591;response to cAMP;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0072593;reactive oxygen species metabolic process;IMP	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;IMP|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFS4		https://hpo.jax.org/app/browse/search?q=NDUFS4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602694	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS4&submit=Quick%0D%11256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS4	rs2279516	0.680911	0.6615	0.6277	1	0	0	exonic	exonic	exonic	NDUFS4	NDUFS4	ENSG00000164258	synonymous SNV	synonymous SNV	unknown	NDUFS4:NM_002495:exon1:c.G12C:p.V4V,	NDUFS4:uc003jpe.2:exon1:c.G12C:p.V4V,	UNKNOWN	Het;G>C	1126;62|53	Hom;G>C	3062;2|113
N	N	-	5	52856716	52856716	A	G	snp	intronic	 	 	 	 	NDUFS4	Ndufs4	ENSG00000164258	NADH:ubiquinone oxidoreductase subunit S4	chr5:52856463-52979168	This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	prostate cancer; Aging/ Telomere Length; Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration; cognitive trait; Parkinson Disease; drug-related genes 	Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7.	Complex I biogenesis	GO:0001932;regulation of protein phosphorylation;IMP|GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0007420;brain development;IMP|GO:0019933;cAMP-mediated signaling;IMP|GO:0022900;electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0045333;cellular respiration;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0051591;response to cAMP;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0072593;reactive oxygen species metabolic process;IMP	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;IMP|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFS4		https://hpo.jax.org/app/browse/search?q=NDUFS4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602694	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS4&submit=Quick%0D%11256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS4	rs1532163	0.807308	0	0	1	0	0	intronic	intronic	intronic	NDUFS4	NDUFS4	ENSG00000164258	Na	Na	Na	Na	Na	Na	Het;A>G	196;1|7	Hom;A>G	188;0|7
N	N	-	5	52942197	52942197	A	G	snp	synonymous SNV	A312G	R104R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	NDUFS4	Ndufs4	ENSG00000164258	NADH:ubiquinone oxidoreductase subunit S4	chr5:52856463-52979168	This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	prostate cancer; Aging/ Telomere Length; Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration; cognitive trait; Parkinson Disease; drug-related genes 	Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7.	Complex I biogenesis	GO:0001932;regulation of protein phosphorylation;IMP|GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0007420;brain development;IMP|GO:0019933;cAMP-mediated signaling;IMP|GO:0022900;electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0045333;cellular respiration;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0051591;response to cAMP;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0072593;reactive oxygen species metabolic process;IMP	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;IMP|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFS4		https://hpo.jax.org/app/browse/search?q=NDUFS4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602694	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS4&submit=Quick%0D%11256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS4	rs31303	0.80012	0.7925	0.7734	1	0	0	exonic	exonic	exonic	NDUFS4	NDUFS4	ENSG00000164258	synonymous SNV	synonymous SNV	unknown	NDUFS4:NM_002495:exon3:c.A312G:p.R104R,	NDUFS4:uc003jpe.2:exon3:c.A312G:p.R104R,	UNKNOWN	Het;A>G	820;38|40	Hom;A>G	2551;0|95
N	N	-	5	52979097	52979097	G	A	snp	UTR3	*46G>A	 	 	 	NDUFS4	Ndufs4	ENSG00000164258	NADH:ubiquinone oxidoreductase subunit S4	chr5:52856463-52979168	This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	prostate cancer; Aging/ Telomere Length; Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration; cognitive trait; Parkinson Disease; drug-related genes 	Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7.	Complex I biogenesis	GO:0001932;regulation of protein phosphorylation;IMP|GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0007420;brain development;IMP|GO:0019933;cAMP-mediated signaling;IMP|GO:0022900;electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0045333;cellular respiration;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0051591;response to cAMP;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0072593;reactive oxygen species metabolic process;IMP	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;IMP|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFS4		https://hpo.jax.org/app/browse/search?q=NDUFS4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602694	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS4&submit=Quick%0D%11256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS4	rs567	0.378594	0.4195	0.4485	1	0	0	UTR3	UTR3	UTR3	NDUFS4(NM_002495:c.*46G>A)	NDUFS4(uc003jpe.2:c.*46G>A)	ENSG00000164258(ENST00000296684:c.*46G>A,ENST00000506974:c.*350G>A,ENST00000506765:c.*137G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	679;66|37	Hom;G>A	2452;0|95
N	N	-	5	5303349	5303349	T	C	snp	intronic	 	 	 	 	ADAMTS16	Adamts16	ENSG00000145536	ADAM metallopeptidase with thrombospondin type 1 motif 16	chr5:5140443-5320417	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]	Attention Deficit Disorder with Hyperactivity; Metabolism; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Amyotrophic Lateral Sclerosis; Parkinson Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0006508;proteolysis;IEA|GO:1902017;regulation of cilium assembly;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS16	https://www.uniprot.org/uniprot/Q8TE57		https://www.ncbi.nlm.nih.gov/omim/?term=607510	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS16&submit=Quick%0D%8751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS16	rs11959893	0.610024	0.6396	0.6447	1	0	0	intronic	intronic	intronic	ADAMTS16	ADAMTS16	ENSG00000145536	Na	Na	Na	Na	Na	Na	Het;T>C	72;4|3	Hom;T>C	395;0|13
N	N	-	5	5303614	5303614	C	T	snp	intronic	 	 	 	 	ADAMTS16	Adamts16	ENSG00000145536	ADAM metallopeptidase with thrombospondin type 1 motif 16	chr5:5140443-5320417	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]	Attention Deficit Disorder with Hyperactivity; Metabolism; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Amyotrophic Lateral Sclerosis; Parkinson Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0006508;proteolysis;IEA|GO:1902017;regulation of cilium assembly;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS16	https://www.uniprot.org/uniprot/Q8TE57		https://www.ncbi.nlm.nih.gov/omim/?term=607510	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS16&submit=Quick%0D%8751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS16	rs11134110	0.311102	0.2588	0.3466	1	0	0	intronic	intronic	intronic	ADAMTS16	ADAMTS16	ENSG00000145536	Na	Na	Na	Na	Na	Na	Het;C>T	80;14|6	Hom;C>T	688;0|26
N	N	-	5	5320199	5320199	C	CT	indel	UTR3	*948C>CT	 	 	 	ADAMTS16	Adamts16	ENSG00000145536	ADAM metallopeptidase with thrombospondin type 1 motif 16	chr5:5140443-5320417	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]	Attention Deficit Disorder with Hyperactivity; Metabolism; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Amyotrophic Lateral Sclerosis; Parkinson Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0006508;proteolysis;IEA|GO:1902017;regulation of cilium assembly;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS16	https://www.uniprot.org/uniprot/Q8TE57		https://www.ncbi.nlm.nih.gov/omim/?term=607510	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS16&submit=Quick%0D%8751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS16	rs112753050	0.926518	0	0	1	0	0	UTR3	UTR3	UTR3	ADAMTS16(NM_139056:c.*948C>CT)	ADAMTS16(uc003jdl.3:c.*948C>CT)	ENSG00000145536(ENST00000274181:c.*948C>CT)	Na	Na	Na	Na	Na	Na	Het;+T	3031;20|137	Hom;+T	3706;13|165
N	N	-	5	53606295	53606295	T	C	snp	synonymous SNV	A15G	R5R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ARL15	Arl15	ENSG00000185305	ADP ribosylation factor like GTPase 15	chr5:53179775-53606412		obesity; Cholesterol, HDL; Macular Degeneration; Metabolic; Myocardial Infarction; Tobacco Use Disorder; Adiponectin; Body Weight; Adiponectin levels; Uric Acid	 		GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008150;biological_process;ND	GO:0005622;intracellular;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL15				http://www.informatics.jax.org/searchtool/Search.do?query=ARL15&submit=Quick%0D%15392ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL15	rs35941	0.826478	0.8721	0.8298	1	0	0	exonic	exonic	exonic	ARL15	ARL15	ENSG00000185305	synonymous SNV	synonymous SNV	unknown	ARL15:NM_019087:exon1:c.A15G:p.R5R,	ARL15:uc003jpg.1:exon1:c.A15G:p.R5R,	UNKNOWN	Het;T>C	1559;77|77	Hom;T>C	3641;0|136
N	N	-	5	55760879	55760879	C	T	snp	ncRNA_exonic	 	 	 	 	LOC102467147																		rs61190516	0.121605	0	0.1366	1	0	0	ncRNA_exonic	intergenic	UTR5	LOC102467147	U6atac(dist=167363),MAP3K1(dist=350021)	ENSG00000248727(ENST00000506836:c.-31G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1101;86|59	Hom;C>T	3090;0|116
N	N	-	5	5739494	5739494	C	T	snp	intergenic	 	 	 	 	ICE1	Ice1																	rs1501827	0.534545	0	0	1	0	0	intergenic	intergenic	intergenic	ICE1(dist=249147),FLJ33360(dist=571060)	KIAA0947(dist=249147),FLJ33360(dist=571060)	ENSG00000164151(dist=249147),ENSG00000261037(dist=279648)	Na	Na	Na	Na	Na	Na	Het;C>T	66;24|7	Hom;C>T	570;0|22
N	N	-	5	57618340	57618340	T	C	snp	intergenic	 	 	 	 	PGAM1P1																		rs184999	0.691893	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928569(dist=200172),PLK2(dist=131470)	Mir_562(dist=163512),PLK2(dist=131470)	ENSG00000248271(dist=160761),ENSG00000145632(dist=131469)	Na	Na	Na	Na	Na	Na	Het;T>C	122;4|4	Hom;T>C	149;0|5
N	N	-	5	57667368	57667368	T	A	snp	intergenic	 	 	 	 	PGAM1P1																		rs10056498	0.279752	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101928569(dist=249200),PLK2(dist=82442)	Mir_562(dist=212540),PLK2(dist=82442)	ENSG00000248271(dist=209789),ENSG00000145632(dist=82441)	Na	Na	Na	Na	Na	Na	Het;T>A	367;12|16	Hom;T>A	785;0|27
N	N	-	5	57754489	57754491	ACT	A	indel	intronic	 	 	 	 	PLK2	Plk2	ENSG00000145632	polo like kinase 2	chr5:57749809-57756087	The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	kidney aging; breast cancer	Inactivation of this gene results in impaired embryonic growth and placental defects due to increased cell proliferation.	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain	GO:0000082;G1/S transition of mitotic cell cycle;IMP|GO:0000278;mitotic cell cycle;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007052;mitotic spindle organization;IDA|GO:0007093;mitotic cell cycle checkpoint;ISS|GO:0007265;Ras protein signal transduction;ISS|GO:0007613;memory;ISS|GO:0010508;positive regulation of autophagy;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032092;positive regulation of protein binding;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032486;Rap protein signal transduction;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046599;regulation of centriole replication;IDA|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060291;long-term synaptic potentiation;ISS|GO:0060292;long term synaptic depression;ISS|GO:0061000;negative regulation of dendritic spine development;IEA	GO:0000785;chromatin;IEA|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0043008;ATP-dependent protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PLK2	https://www.uniprot.org/uniprot/Q9NYY3		https://www.ncbi.nlm.nih.gov/omim/?term=607023	http://www.informatics.jax.org/searchtool/Search.do?query=PLK2&submit=Quick%0D%8759ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLK2	rs3830369	0.0696885	0	0	1	0	0	intronic	intronic	intronic	PLK2	PLK2	ENSG00000145632	Na	Na	Na	Na	Na	Na	Het;-CT	394;17|12	Hom;-CT	1226;1|30
N	N	-	5	57754851	57754851	A	G	snp	synonymous SNV	T45C	I15I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PLK2	Plk2	ENSG00000145632	polo like kinase 2	chr5:57749809-57756087	The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	kidney aging; breast cancer	Inactivation of this gene results in impaired embryonic growth and placental defects due to increased cell proliferation.	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain	GO:0000082;G1/S transition of mitotic cell cycle;IMP|GO:0000278;mitotic cell cycle;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007052;mitotic spindle organization;IDA|GO:0007093;mitotic cell cycle checkpoint;ISS|GO:0007265;Ras protein signal transduction;ISS|GO:0007613;memory;ISS|GO:0010508;positive regulation of autophagy;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032092;positive regulation of protein binding;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032486;Rap protein signal transduction;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046599;regulation of centriole replication;IDA|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060291;long-term synaptic potentiation;ISS|GO:0060292;long term synaptic depression;ISS|GO:0061000;negative regulation of dendritic spine development;IEA	GO:0000785;chromatin;IEA|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0043008;ATP-dependent protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PLK2	https://www.uniprot.org/uniprot/Q9NYY3		https://www.ncbi.nlm.nih.gov/omim/?term=607023	http://www.informatics.jax.org/searchtool/Search.do?query=PLK2&submit=Quick%0D%8759ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLK2	rs702722	0.169728	0.1406	0.1212	1	0	0	exonic	exonic	exonic	PLK2	PLK2	ENSG00000145632	synonymous SNV	synonymous SNV	unknown	PLK2:NM_006622:exon2:c.T339C:p.I113I,PLK2:NM_001252226:exon3:c.T297C:p.I99I,	PLK2:uc011cql.1:exon1:c.T45C:p.I15I,PLK2:uc003jrn.3:exon2:c.T339C:p.I113I,PLK2:uc021xyx.1:exon3:c.T297C:p.I99I,	UNKNOWN	Het;A>G	1403;54|62	Hom;A>G	2603;0|92
N	N	-	5	5950972	5950972	C	T	snp	intergenic	 	 	 	 	ICE1	Ice1																	rs306251	0.275759	0	0	1	0	0	intergenic	intergenic	intergenic	ICE1(dist=460625),FLJ33360(dist=359582)	KIAA0947(dist=460625),FLJ33360(dist=359582)	ENSG00000164151(dist=460625),ENSG00000261037(dist=68170)	Na	Na	Na	Na	Na	Na	Het;C>T	56;1|4	Hom;C>T	71;0|4
N	N	-	5	59627600	59627600	G	A	snp	intronic	 	 	 	 	PDE4D	Pde4d	ENSG00000113448	phosphodiesterase 4D	chr5:58264865-59817947	This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]	bone density; Cystatins; Cholesterol, HDL; Apolipoprotein A-I; asthma; Brain Ischemia|Hypertension|Stroke; Body Height; Neurotic Disorders; Alcoholism; schizophrenia; Apoplexy|Myocardial ischemia|Stroke; Kidney Failure, Chronic; Thyroid Diseases; Diabetes Mellitus; Brain Ischemia|Stroke; obesity|asthma; stroke, ischemic; atherosclerosis; Triglycerides; Sleep; Hip; Mental Competency; Blood Coagulation Factors; Echocardiography; chronic obstructive pulmonary disease/COPD; neuroticism; Cholesterol, LDL; Cerebral Palsy|; Body Composition; stroke; Brain Ischemia|Intracranial Hemorrhages|Stroke; Cerebrovascular Disorders; Esophageal Neoplasms; Brain Ischemia|Cerebral Infarction; Angina, Unstable|Coronary Stenosis|Inflammation|Myocardial Infarction; Tobacco Use Disorder; Asthma|; Brain Ischemia|Diabetes Mellitus|Intracranial Arteriosclerosis|Stroke; Stroke; stroke, ischemic; atherosclerosis, carotid; sleepiness; Type 2 Diabetes| edema | rosiglitazone; Peroxidase; ischemic stroke; Cholesterol; Calcium-Binding Proteins; metabolic syndrome; Apoplexy|Brain Ischemia|Stroke; Asthma; brain infarction; Apoplexy|Stroke; Hypertension/complications*; Apolipoproteins B	Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability.	G alpha (s) signalling events	GO:0002027;regulation of heart rate;ISS|GO:0006198;cAMP catabolic process;IDA|GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007568;aging;IEA|GO:0010469;regulation of receptor activity;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0030814;regulation of cAMP metabolic process;IEA|GO:0032729;positive regulation of interferon-gamma production;IMP|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0032754;positive regulation of interleukin-5 production;IMP|GO:0033137;negative regulation of peptidyl-serine phosphorylation;ISS|GO:0035264;multicellular organism growth;IEA|GO:0045822;negative regulation of heart contraction;ISS|GO:0050852;T cell receptor signaling pathway;IMP|GO:0050900;leukocyte migration;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0071875;adrenergic receptor signaling pathway;ISS|GO:0086004;regulation of cardiac muscle cell contraction;ISS|GO:0086024;adrenergic receptor signaling pathway involved in positive regulation of heart rate;IC|GO:1901844;regulation of cell communication by electrical coupling involved in cardiac conduction;IC|GO:1901898;negative regulation of relaxation of cardiac muscle;ISS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;ISS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034704;calcium channel complex;IDA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0030552;cAMP binding;IDA|GO:0031698;beta-2 adrenergic receptor binding;ISS|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IPI|GO:0097110;scaffold protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDE4D	https://www.uniprot.org/uniprot/Q08499	https://hpo.jax.org/app/browse/search?q=PDE4D&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600129	http://www.informatics.jax.org/searchtool/Search.do?query=PDE4D&submit=Quick%0D%4364ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4D	rs80243638	0.0591054	0	0	1	0	0	intronic	intronic	intronic	PDE4D	PDE4D	ENSG00000113448	Na	Na	Na	Na	Na	Na	Het;G>A	42;2|3	Hom;G>A	71;0|4
N	N	-	5	60126266	60126266	T	C	snp	intronic	 	 	 	 	ELOVL7	Elovl7	ENSG00000164181	ELOVL fatty acid elongase 7	chr5:60047618-60140216		Stroke; Tobacco Use Disorder	 	Synthesis of very long-chain fatty acyl-CoAs	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0019367;fatty acid elongation, saturated fatty acid;IDA|GO:0034626;fatty acid elongation, polyunsaturated fatty acid;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0009922;fatty acid elongase activity;EXP|GO:0016740;transferase activity;IEA|GO:0102336;3-oxo-arachidoyl-CoA synthase activity;IEA|GO:0102337;3-oxo-cerotoyl-CoA synthase activity;IEA|GO:0102338;3-oxo-lignoceronyl-CoA synthase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ELOVL7			https://www.ncbi.nlm.nih.gov/omim/?term=614451	http://www.informatics.jax.org/searchtool/Search.do?query=ELOVL7&submit=Quick%0D%11235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELOVL7	rs4410607	0.805511	0	0	1	0	0	intronic	intronic	intronic	ELOVL7	ELOVL7	ENSG00000164181	Na	Na	Na	Na	Na	Na	Het;T>C	601;11|20	Hom;T>C	652;0|19
N	N	-	5	60126424	60126424	T	C	snp	intronic	 	 	 	 	ELOVL7	Elovl7	ENSG00000164181	ELOVL fatty acid elongase 7	chr5:60047618-60140216		Stroke; Tobacco Use Disorder	 	Synthesis of very long-chain fatty acyl-CoAs	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0019367;fatty acid elongation, saturated fatty acid;IDA|GO:0034626;fatty acid elongation, polyunsaturated fatty acid;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0009922;fatty acid elongase activity;EXP|GO:0016740;transferase activity;IEA|GO:0102336;3-oxo-arachidoyl-CoA synthase activity;IEA|GO:0102337;3-oxo-cerotoyl-CoA synthase activity;IEA|GO:0102338;3-oxo-lignoceronyl-CoA synthase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ELOVL7			https://www.ncbi.nlm.nih.gov/omim/?term=614451	http://www.informatics.jax.org/searchtool/Search.do?query=ELOVL7&submit=Quick%0D%11235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELOVL7	rs2409825	0	0	0	1	0	0	intronic	intronic	intronic	ELOVL7	ELOVL7	ENSG00000164181	Na	Na	Na	Na	Na	Na	Het;T>C	1431;47|64	Hom;T>C	3408;0|140
N	N	-	5	61738690	61738690	A	AAAAACAAAAC	indel	intronic	 	 	 	 	IPO11	Ipo11	ENSG00000086200	importin 11	chr5:61699799-61924409	Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]	Tobacco Use Disorder; Creatinine	 		GO:0006610;ribosomal protein import into nucleus;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0001650;fibrillar center;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IPO11	https://www.uniprot.org/uniprot/Q9UI26		https://www.ncbi.nlm.nih.gov/omim/?term=610889	http://www.informatics.jax.org/searchtool/Search.do?query=IPO11&submit=Quick%0D%1918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO11	rs148235524	0	0	0	1	0	0	intronic	intronic	intronic	IPO11	IPO11	ENSG00000086200	Na	Na	Na	Na	Na	Na	Het;+AAAACAAAAC	83;2|3	Hom;+AAAACAAAAC	143;0|4
N	N	-	5	61745737	61745738	CT	C	indel	intronic	 	 	 	 	IPO11	Ipo11	ENSG00000086200	importin 11	chr5:61699799-61924409	Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]	Tobacco Use Disorder; Creatinine	 		GO:0006610;ribosomal protein import into nucleus;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0001650;fibrillar center;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IPO11	https://www.uniprot.org/uniprot/Q9UI26		https://www.ncbi.nlm.nih.gov/omim/?term=610889	http://www.informatics.jax.org/searchtool/Search.do?query=IPO11&submit=Quick%0D%1918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO11	rs11329383	0.652756	0	0.6512	1	0	0	intronic	intronic	intronic	IPO11	IPO11	ENSG00000086200	Na	Na	Na	Na	Na	Na	Het;-T	1073;10|62	Hom;-T	1714;2|77
N	N	-	5	6466111	6466111	C	G	snp	intronic	 	 	 	 	UBE2QL1	Ube2ql1	ENSG00000215218	ubiquitin conjugating enzyme E2 Q family like 1	chr5:6448736-6495022		Behcet Syndrome; Insulin Resistance	 		GO:0016567;protein ubiquitination;IEA	GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0061631;ubiquitin conjugating enzyme activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBE2QL1			https://www.ncbi.nlm.nih.gov/omim/?term=615832	http://www.informatics.jax.org/searchtool/Search.do?query=UBE2QL1&submit=Quick%0D%18320ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2QL1	rs272481	0.789936	0	0	1	0	0	intronic	intronic	intronic	UBE2QL1	UBE2QL1	ENSG00000215218	Na	Na	Na	Na	Na	Na	Het;C>G	42;4|3	Hom;C>G	71;0|4
N	N	-	5	64838758	64838758	G	C	snp	intronic	 	 	 	 	CENPK	Cenpk	ENSG00000123219	centromere protein K	chr5:64813593-64858998	CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]		 	Mitotic Prometaphase	GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CENPK	https://www.uniprot.org/uniprot/Q9BS16		https://www.ncbi.nlm.nih.gov/omim/?term=611502	http://www.informatics.jax.org/searchtool/Search.do?query=CENPK&submit=Quick%0D%5503ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPK	rs6891955	0.473642	0	0	1	0	0	intronic	intronic	intronic	CENPK	CENPK	ENSG00000123219	Na	Na	Na	Na	Na	Na	Het;G>C	321;14|11	Hom;G>C	326;0|10
N	N	-	5	6583526	6583526	C	G	snp	ncRNA_exonic	 	 	 	 	LINC01018																		rs555016	0.555511	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01018	LOC255167	ENSG00000250056	Na	Na	Na	Na	Na	Na	Het;C>G	1148;25|48	Hom;C>G	2134;0|75
N	N	-	5	6705627	6705627	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100505625																		rs274663	0.863818	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100505625	SRD5A1(dist=35952),PAPD7(dist=9091)	ENSG00000248677	Na	Na	Na	Na	Na	Na	Het;G>A	1182;41|54	Hom;G>A	3623;0|131
N	N	-	5	6705815	6705815	A	C	snp	ncRNA_exonic	 	 	 	 	LOC100505625																		rs274664	0.863618	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC100505625	SRD5A1(dist=36140),PAPD7(dist=8903)	ENSG00000248677	Na	Na	Na	Na	Na	Na	Het;A>C	2302;107|103	Hom;A>C	5574;0|199
N	N	-	5	68564985	68564986	TA	T	indel	intronic	 	 	 	 	CDK7	Cdk7	ENSG00000277273	cyclin dependent kinase 7	chr5:68530668-68573250	The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]	bladder cancer; multiple sclerosis; Colonic Neoplasms|Rectal Neoplasms; chronic obstructive pulmonary disease; ovarian cancer; lung cancer ; Colorectal Neoplasms; lung cancer; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; breast cancer ; body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;	Mice homozygous for null allele exhibit abnormal trophoblast layer morphology, abnormal inner cell mass apoptosis, and complete embryonic lethality during peri-implantation stages. Homoyzgous null MEFs display absent fibroblast proliferation.	RUNX1 regulates transcription of genes involved in differentiation of HSCs	GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008283;cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050821;protein stabilization;IMP|GO:0051301;cell division;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IMP|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070985;TFIIK complex;IBA	GO:0000166;nucleotide binding;IEA|GO:0003713;transcription coactivator activity;NAS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0050681;androgen receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/CDK7	https://www.uniprot.org/uniprot/P50613		https://www.ncbi.nlm.nih.gov/omim/?term=601955	http://www.informatics.jax.org/searchtool/Search.do?query=CDK7&submit=Quick%0D%21792ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK7	rs543453771	0.259984	0	0.4184	1	0	0	intronic	intronic	intronic	CDK7	CDK7	ENSG00000134058	Na	Na	Na	Na	Na	Na	Het;-A	657;5|35	Hom;-A	561;2|30
N	N	-	5	72608740	72608740	T	TCTC	indel	intergenic	 	 	 	 	AC116345.1																		rs10640091	0	0	0	1	0	0	intergenic	intergenic	intergenic	TMEM174(dist=137770),FOXD1(dist=133345)	TMEM174(dist=137770),FOXD1(dist=133345)	ENSG00000249743(dist=17979),ENSG00000251543(dist=24993)	Na	Na	Na	Na	Na	Na	Het;+CTC	44;1|2	Hom;+CTC	143;0|4
N	N	-	5	72805537	72805537	G	GA	indel	downstream	 	 	 	 	FUNDC2P1																		rs397972587	0.410942	0	0	1	0	0	intergenic	intergenic	downstream	BTF3(dist=4089),ANKRA2(dist=42488)	BTF3(dist=4089),ANKRA2(dist=42488)	ENSG00000255883	Na	Na	Na	Na	Na	Na	Het;+A	98;2|6	Hom;+A	230;1|11
N	N	-	5	73536750	73536750	T	C	snp	intergenic	 	 	 	 	LINC02122																		rs1824495	0.174121	0	0	1	0	0	intergenic	intergenic	intergenic	ARHGEF28(dist=298932),LINC01335(dist=65485)	Metazoa_SRP(dist=65258),BC043537(dist=81561)	ENSG00000248474(dist=137709),ENSG00000222551(dist=30757)	Na	Na	Na	Na	Na	Na	Het;T>C	31;5|3	Hom;T>C	104;0|4
N	N	-	5	73602296	73602296	G	T	snp	ncRNA_exonic	 	 	 	 	LINC01335																		rs1460813	0.645767	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01335	Metazoa_SRP(dist=130804),BC043537(dist=16015)	ENSG00000248942	Na	Na	Na	Na	Na	Na	Het;G>T	1444;104|73	Hom;G>T	3986;2|151
N	N	-	5	73602826	73602826	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01335																		rs1380944	0.391374	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01335	Metazoa_SRP(dist=131334),BC043537(dist=15485)	ENSG00000248942	Na	Na	Na	Na	Na	Na	Het;C>T	36;4|3	Hom;C>T	422;0|16
N	N	-	5	73618819	73618819	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01333																		rs12521529	0.514177	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01333	BC043537	ENSG00000249343	Na	Na	Na	Na	Na	Na	Het;C>T	310;38|18	Hom;C>T	1084;0|38
N	N	-	5	73618846	73618846	A	C	snp	ncRNA_intronic	 	 	 	 	BC043537																		rs12513885	0.551518	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01333	BC043537	ENSG00000249343,ENSG00000251041	Na	Na	Na	Na	Na	Na	Het;A>C	207;27|10	Hom;A>C	783;0|27
N	N	-	5	73624131	73624131	A	G	snp	ncRNA_exonic	 	 	 	 	LINC01333																		rs11953884	0.659545	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC01333	BC043537	ENSG00000250446,ENSG00000251041	Na	Na	Na	Na	Na	Na	Het;A>G	1023;67|54	Hom;A>G	3688;0|131
N	N	-	5	73715442	73715442	G	T	snp	ncRNA_intronic	 	 	 	 	LINC01331																		rs458961	0.864816	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01331	BC043537(dist=91260),ENC1(dist=207789)	ENSG00000248673	Na	Na	Na	Na	Na	Na	Het;G>T	615;33|27	Hom;G>T	1609;0|59
N	N	-	5	75212081	75212081	T	C	snp	intergenic	 	 	 	 	BIN2P2																		rs6871865	0.511981	0	0	1	0	0	intergenic	intergenic	intergenic	POC5(dist=198768),SV2C(dist=167158)	POC5(dist=198768),SV2C(dist=167224)	ENSG00000248684(dist=4389),ENSG00000228367(dist=4414)	Na	Na	Na	Na	Na	Na	Het;T>C	130;5|6	Hom;T>C	213;0|9
N	N	-	5	75672800	75672800	G	C	snp	ncRNA_exonic	 	 	 	 	SNRPCP2																		rs4703706	0.757788	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SV2C(dist=23036),IQGAP2(dist=26280)	SV2C(dist=51384),IQGAP2(dist=26349)	ENSG00000251235	Na	Na	Na	Na	Na	Na	Het;G>C	166;1|7	Hom;G>C	441;0|14
N	N	-	5	75757556	75757556	C	T	snp	intronic	 	 	 	 	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs10045155	0.272564	0	0	1	0	0	intronic	intronic	intronic	IQGAP2	IQGAP2	ENSG00000145703	Na	Na	Na	Na	Na	Na	Het;C>T	61;9|5	Hom;C>T	755;0|27
N	N	-	5	75884734	75884734	G	A	snp	synonymous SNV	G462A	L154L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs1131232	0.696086	0.5533	0.5752	1	0	0	exonic	exonic	exonic	IQGAP2	IQGAP2	ENSG00000145703	synonymous SNV	synonymous SNV	unknown	IQGAP2:NM_006633:exon6:c.G462A:p.L154L,IQGAP2:NM_001285460:exon5:c.G312A:p.L104L,	IQGAP2:uc003kek.3:exon6:c.G462A:p.L154L,	UNKNOWN	Het;G>A	2213;123|113	Hom;G>A	5791;0|222
N	N	-	5	75888788	75888788	G	A	snp	intronic	 	 	 	 	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs3736394	0.597244	0.4982	0.5177	1	0	0	intronic	intronic	intronic	IQGAP2	IQGAP2	ENSG00000145703	Na	Na	Na	Na	Na	Na	Het;G>A	232;14|10	Hom;G>A	751;2|30
N	N	-	5	75904811	75904811	C	G	snp	intronic	 	 	 	 	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs3822529	0.637979	0	0	1	0	0	intronic	intronic	intronic	IQGAP2	IQGAP2	ENSG00000145703	Na	Na	Na	Na	Na	Na	Het;C>G	1541;78|73	Hom;C>G	3339;0|115
N	N	-	5	75907065	75907065	A	G	snp	intronic	 	 	 	 	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs3797390	0.397564	0	0	1	0	0	intronic	intronic	intronic	IQGAP2	IQGAP2	ENSG00000145703	Na	Na	Na	Na	Na	Na	Het;A>G	389;20|17	Hom;A>G	1033;0|34
N	N	-	5	75960818	75960818	T	TA	indel	intronic	 	 	 	 	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs11449450	0	0	0.6144	1	0	0	intronic	intronic	intronic	IQGAP2	IQGAP2	ENSG00000145703	Na	Na	Na	Na	Na	Na	Het;+A	302;11|9	Hom;+A	1178;0|26
N	N	-	5	75960825	75960825	G	C	snp	intronic	 	 	 	 	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs253092	0.311701	0.8435	0.8674	1	0	0	intronic	intronic	intronic	IQGAP2	IQGAP2	ENSG00000145703	Na	Na	Na	Na	Na	Na	Het;G>C	311;13|9	Hom;G>C	1286;0|31
N	N	-	5	75996775	75996775	A	G	snp	ncRNA_intronic	 	 	 	 	AC025188.1																		rs12054935	0.284145	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IQGAP2	IQGAP2	ENSG00000225407	Na	Na	Na	Na	Na	Na	Het;A>G	162;2|5	Hom;A>G	185;0|5
N	N	-	5	75996837	75996837	C	T	snp	ncRNA_intronic	 	 	 	 	AC025188.1																		rs10942789	0.283946	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IQGAP2	IQGAP2	ENSG00000225407	Na	Na	Na	Na	Na	Na	Het;C>T	526;18|23	Hom;C>T	597;0|20
N	N	-	5	75997063	75997063	A	G	snp	ncRNA_intronic	 	 	 	 	AC025188.1																		rs2307124	0.284345	0.3324	0.3092	1	0	0	intronic	intronic	ncRNA_intronic	IQGAP2	IQGAP2	ENSG00000225407	Na	Na	Na	Na	Na	Na	Het;A>G	1477;52|40	Hom;A>G	3861;1|91
N	N	-	5	75997069	75997069	C	T	snp	ncRNA_intronic	 	 	 	 	AC025188.1																		rs2307123	0.275759	0.3213	0.3059	1	0	0	intronic	intronic	ncRNA_intronic	IQGAP2	IQGAP2	ENSG00000225407	Na	Na	Na	Na	Na	Na	Het;C>T	1426;45|38	Hom;C>T	3873;1|89
N	N	-	5	75998488	75998488	T	G	snp	ncRNA_intronic	 	 	 	 	AC025188.1																		rs3816909	0.282947	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IQGAP2	IQGAP2	ENSG00000225407	Na	Na	Na	Na	Na	Na	Het;T>G	892;20|35	Hom;T>G	1842;0|65
N	N	-	5	75998602	75998602	G	A	snp	ncRNA_intronic	 	 	 	 	AC025188.1																		rs10942790	0.282947	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IQGAP2	IQGAP2	ENSG00000225407	Na	Na	Na	Na	Na	Na	Het;G>A	37;1|2	Hom;G>A	118;0|4
N	N	-	5	76003254	76003254	A	T	snp	UTR3	*116A>T	 	 	 	IQGAP2	Iqgap2	ENSG00000145703	IQ motif containing GTPase activating protein 2	chr5:75699074-76003957	This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]	hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index	Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.	Neutrophil degranulation	GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2	https://www.uniprot.org/uniprot/Q13576		https://www.ncbi.nlm.nih.gov/omim/?term=605401	http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2	rs463188	0.761182	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	IQGAP2(NM_006633:c.*116A>T,NM_001285460:c.*116A>T,NM_001285461:c.*116A>T,NM_001285462:c.*116A>T)	IQGAP2(uc003kek.3:c.*116A>T,uc011csv.2:c.*116A>T,uc003kel.3:c.*116A>T)	ENSG00000225407	Na	Na	Na	Na	Na	Na	Het;A>T	45;1|3	Hom;A>T	54;0|3
N	N	-	5	76586592	76586592	A	G	snp	ncRNA_exonic	 	 	 	 	ALDH7A1P1																		rs10045247	0.10643	0	0	1	0	0	intronic	intronic	ncRNA_exonic	PDE8B	PDE8B	ENSG00000251400	Na	Na	Na	Na	Na	Na	Het;A>G	572;60|30	Hom;A>G	3104;0|102
N	N	-	5	766910	766910	C	T	snp	unknown	 	 	 	 	ZDHHC11B	Zdhhc11	ENSG00000206077	zinc finger DHHC-type containing 11B	chr5:710475-767067			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11B				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11B&submit=Quick%0D%17602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11B	rs1809933	0.776558	0	0.7515	0.11	1	9	intergenic	intergenic	exonic	TPPP(dist=73400),ZDHHC11(dist=28810)	TPPP(dist=73400),ZDHHC11(dist=28810)	ENSG00000206077	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	2185;38|102	Hom;C>T	2124;0|84
N	N	-	5	767033	767033	A	C	snp	unknown	 	 	 	 	ZDHHC11B	Zdhhc11	ENSG00000206077	zinc finger DHHC-type containing 11B	chr5:710475-767067			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11B				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11B&submit=Quick%0D%17602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11B	rs1809932	0.778954	0	0.7525	0.33	3	9	intergenic	intergenic	exonic	TPPP(dist=73523),ZDHHC11(dist=28687)	TPPP(dist=73523),ZDHHC11(dist=28687)	ENSG00000206077	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>C	1209;18|51	Hom;A>C	1095;0|40
N	N	-	5	76717583	76717583	A	G	snp	intronic	 	 	 	 	PDE8B	Pde8b	ENSG00000113231	phosphodiesterase 8B	chr5:76506274-76725632	The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]	Thyroid Diseases; Thyrotropin; Hypothyroidism; Adenoma|Adrenal Cortex Neoplasms|Cushing Syndrome; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit increased uring corticosterone, decreased serum adrenocorticotropin and decreased sensitivity to a PDE8-selective inhibitor.	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0046676;negative regulation of insulin secretion;IEA	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE8B	https://www.uniprot.org/uniprot/O95263	https://hpo.jax.org/app/browse/search?q=PDE8B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603390	http://www.informatics.jax.org/searchtool/Search.do?query=PDE8B&submit=Quick%0D%4332ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8B	rs13160107	0.309904	0	0	1	0	0	intronic	intronic	intronic	PDE8B	PDE8B	ENSG00000113231	Na	Na	Na	Na	Na	Na	Het;A>G	238;16|9	Hom;A>G	696;0|23
N	N	-	5	767498	767498	A	G	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs438922	0.501198	0	0	1	0	0	intergenic	intergenic	intronic	TPPP(dist=73988),ZDHHC11(dist=28222)	TPPP(dist=73988),ZDHHC11(dist=28222)	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;A>G	1956;95|86	Hom;A>G	2843;2|108
N	N	-	5	767503	767503	C	T	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs391675	0.771366	0	0	1	0	0	intergenic	intergenic	intronic	TPPP(dist=73993),ZDHHC11(dist=28217)	TPPP(dist=73993),ZDHHC11(dist=28217)	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;C>T	5601;46|138	Hom;C>T	5072;0|112
N	N	-	5	767510	767510	G	A	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs440240	0.771965	0	0	1	0	0	intergenic	intergenic	intronic	TPPP(dist=74000),ZDHHC11(dist=28210)	TPPP(dist=74000),ZDHHC11(dist=28210)	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;G>A	5675;49|142	Hom;G>A	5106;0|117
N	N	-	5	767613	767613	C	T	snp	ncRNA_exonic	 	 	 	 	BRD9P2																		rs414349	0.400359	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TPPP(dist=74103),ZDHHC11(dist=28107)	TPPP(dist=74103),ZDHHC11(dist=28107)	ENSG00000249908	Na	Na	Na	Na	Na	Na	Het;C>T	635;36|30	Hom;C>T	1532;0|59
N	N	-	5	767663	767663	G	A	snp	ncRNA_intronic	 	 	 	 	BRD9P2																		rs452764	0.442692	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TPPP(dist=74153),ZDHHC11(dist=28057)	TPPP(dist=74153),ZDHHC11(dist=28057)	ENSG00000249908	Na	Na	Na	Na	Na	Na	Het;G>A	527;29|23	Hom;G>A	938;0|36
N	N	-	5	767706	767706	C	T	snp	ncRNA_intronic	 	 	 	 	BRD9P2																		rs371560	0.429513	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	TPPP(dist=74196),ZDHHC11(dist=28014)	TPPP(dist=74196),ZDHHC11(dist=28014)	ENSG00000249908	Na	Na	Na	Na	Na	Na	Het;C>T	271;10|12	Hom;C>T	570;0|21
N	N	-	5	76925741	76925741	A	G	snp	UTR3	*348T>C	 	 	 	OTP	Otp	ENSG00000171540	orthopedia homeobox	chr5:76924538-76935513	This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]		Homozygous mutation of this gene results in impaired development of neuroendocrine cell lineages in the hypothalamus and of diencephalic dopaminergic neurons.		GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0021979;hypothalamus cell differentiation;IEA|GO:0021985;neurohypophysis development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTP			https://www.ncbi.nlm.nih.gov/omim/?term=604529	http://www.informatics.jax.org/searchtool/Search.do?query=OTP&submit=Quick%0D%12958ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTP	rs6878934	0.44349	0	0	1	0	0	UTR3	UTR3	UTR3	OTP(NM_032109:c.*348T>C)	OTP(uc003kfg.3:c.*348T>C)	ENSG00000171540(ENST00000306422:c.*348T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	36;2|2	Hom;A>G	117;0|5
N	N	-	5	76926651	76926651	A	C	snp	intronic	 	 	 	 	OTP	Otp	ENSG00000171540	orthopedia homeobox	chr5:76924538-76935513	This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]		Homozygous mutation of this gene results in impaired development of neuroendocrine cell lineages in the hypothalamus and of diencephalic dopaminergic neurons.		GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0021979;hypothalamus cell differentiation;IEA|GO:0021985;neurohypophysis development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTP			https://www.ncbi.nlm.nih.gov/omim/?term=604529	http://www.informatics.jax.org/searchtool/Search.do?query=OTP&submit=Quick%0D%12958ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTP	rs62362480	0.447883	0.4438	0.4627	1	0	0	intronic	intronic	intronic	OTP	OTP	ENSG00000171540	Na	Na	Na	Na	Na	Na	Het;A>C	744;30|35	Hom;A>C	1800;0|65
N	N	-	5	77004031	77004031	A	T	snp	intronic	 	 	 	 	TBCA	Tbca	ENSG00000171530	tubulin folding cofactor A	chr5:76986991-77164604	The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; obesity; C-Reactive Protein	 	Post-chaperonin tubulin folding pathway	GO:0006457;protein folding;TAS|GO:0007021;tubulin complex assembly;IEA|GO:0007023;post-chaperonin tubulin folding pathway;IEA	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0048487;beta-tubulin binding;IEA|GO:0051087;chaperone binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TBCA			https://www.ncbi.nlm.nih.gov/omim/?term=610058	http://www.informatics.jax.org/searchtool/Search.do?query=TBCA&submit=Quick%0D%12955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCA	rs9791124	0.211661	0.1382	0.1694	1	0	0	intronic	intronic	intronic	TBCA	TBCA	ENSG00000171530	Na	Na	Na	Na	Na	Na	Het;A>T	791;36|35	Hom;A>T	2721;0|99
N	N	-	5	77004229	77004229	A	G	snp	intronic	 	 	 	 	TBCA	Tbca	ENSG00000171530	tubulin folding cofactor A	chr5:76986991-77164604	The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; obesity; C-Reactive Protein	 	Post-chaperonin tubulin folding pathway	GO:0006457;protein folding;TAS|GO:0007021;tubulin complex assembly;IEA|GO:0007023;post-chaperonin tubulin folding pathway;IEA	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0048487;beta-tubulin binding;IEA|GO:0051087;chaperone binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TBCA			https://www.ncbi.nlm.nih.gov/omim/?term=610058	http://www.informatics.jax.org/searchtool/Search.do?query=TBCA&submit=Quick%0D%12955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCA	rs9791128	0.211661	0	0	1	0	0	intronic	intronic	intronic	TBCA	TBCA	ENSG00000171530	Na	Na	Na	Na	Na	Na	Het;A>G	937;23|38	Hom;A>G	2017;0|68
N	N	-	5	77004268	77004268	C	G	snp	intronic	 	 	 	 	TBCA	Tbca	ENSG00000171530	tubulin folding cofactor A	chr5:76986991-77164604	The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; obesity; C-Reactive Protein	 	Post-chaperonin tubulin folding pathway	GO:0006457;protein folding;TAS|GO:0007021;tubulin complex assembly;IEA|GO:0007023;post-chaperonin tubulin folding pathway;IEA	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0048487;beta-tubulin binding;IEA|GO:0051087;chaperone binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TBCA			https://www.ncbi.nlm.nih.gov/omim/?term=610058	http://www.informatics.jax.org/searchtool/Search.do?query=TBCA&submit=Quick%0D%12955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCA	rs78984548	0.103235	0	0	1	0	0	intronic	intronic	intronic	TBCA	TBCA	ENSG00000171530	Na	Na	Na	Na	Na	Na	Het;C>G	321;14|12	Hom;C>G	1275;0|41
N	N	-	5	770153	770153	A	G	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs392698	0.373802	0	0	1	0	0	intergenic	intergenic	intronic	TPPP(dist=76643),ZDHHC11(dist=25567)	TPPP(dist=76643),ZDHHC11(dist=25567)	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;A>G	315;53|22	Hom;A>G	881;0|32
N	N	-	5	77080768	77080768	A	G	snp	ncRNA_exonic	 	 	 	 	ACTBP2																		rs254406	0.580272	0	0	1	0	0	intergenic	upstream	ncRNA_exonic	TBCA(dist=8583),LOC101929154(dist=99712)	HM358977	ENSG00000213763	Na	Na	Na	Na	Na	Na	Het;A>G	660;24|29	Hom;A>G	1976;0|71
N	N	-	5	77081240	77081240	T	G	snp	ncRNA_exonic	 	 	 	 	ACTBP2																		rs254403	0.565695	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBCA(dist=9055),LOC101929154(dist=99240)	HM358977	ENSG00000213763	Na	Na	Na	Na	Na	Na	Het;T>G	1559;73|74	Hom;T>G	4153;2|153
N	N	-	5	77425028	77425028	A	T	snp	nonsynonymous SNV	T1607A	V536E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	AP3B1	Ap3b1	ENSG00000132842	adaptor related protein complex 3 beta 1 subunit	chr5:77296349-77590579	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]	atherosclerosis, coronary lipoprotein; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Carotid Artery Diseases; schizophrenia; Melanoma|Skin Neoplasms	Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span.	Signaling by BRAF and RAF fusions	GO:0006622;protein targeting to lysosome;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0007596;blood coagulation;IEA|GO:0008089;anterograde axonal transport;ISS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019882;antigen processing and presentation;IEA|GO:0032438;melanosome organization;IMP|GO:0048007;antigen processing and presentation, exogenous lipid antigen via MHC class Ib;IEA|GO:0048490;anterograde synaptic vesicle transport;ISS|GO:0051138;positive regulation of NK T cell differentiation;IEA	GO:0005765;lysosomal membrane;IDA|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1904115;axon cytoplasm;IEA	GO:0019903;protein phosphatase binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AP3B1	https://www.uniprot.org/uniprot/O00203	https://hpo.jax.org/app/browse/search?q=AP3B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603401	http://www.informatics.jax.org/searchtool/Search.do?query=AP3B1&submit=Quick%0D%6752ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP3B1	rs6453373	0	0.9328	0.8628	0.23	3	13	exonic	exonic	exonic	AP3B1	AP3B1	ENSG00000132842	nonsynonymous SNV	nonsynonymous SNV	unknown	AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E,	AP3B1:uc031skl.1:exon16:c.T1607A:p.V536E,AP3B1:uc003kfj.4:exon16:c.T1754A:p.V585E,	UNKNOWN	Het;A>T	1179;81|58	Hom;A>T	2521;0|92
N	N	-	5	78251347	78251347	A	G	snp	intronic	 	 	 	 	ARSB	Arsb	ENSG00000113273	arylsulfatase B	chr5:78073032-78281910	Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Neutrophils; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; Exercise Test; Hip; Lymphocytes; hippocampal atrophy; Hippocampus; serum markers of iron status; Ferritins; Tobacco Use Disorder; Hemoglobins; Blood Pressure	Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure.	Neutrophil degranulation	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006914;autophagy;IEA|GO:0007040;lysosome organization;TAS|GO:0007041;lysosomal transport;TAS|GO:0007417;central nervous system development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010976;positive regulation of neuron projection development;ISS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043627;response to estrogen;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051597;response to methylmercury;IEA|GO:0061580;colon epithelial cell migration;IMP	GO:0005576;extracellular region;TAS|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0009986;cell surface;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0004065;arylsulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARSB	https://www.uniprot.org/uniprot/P15848	https://hpo.jax.org/app/browse/search?q=ARSB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611542	http://www.informatics.jax.org/searchtool/Search.do?query=ARSB&submit=Quick%0D%4340ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSB	rs6870443	0.11901	0.1488	0.1683	1	0	0	intronic	intronic	intronic	ARSB	ARSB	ENSG00000113273	Na	Na	Na	Na	Na	Na	Het;A>G	906;63|44	Hom;A>G	3269;0|110
N	N	-	5	78265092	78265092	C	T	snp	intronic	 	 	 	 	ARSB	Arsb	ENSG00000113273	arylsulfatase B	chr5:78073032-78281910	Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Neutrophils; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; Exercise Test; Hip; Lymphocytes; hippocampal atrophy; Hippocampus; serum markers of iron status; Ferritins; Tobacco Use Disorder; Hemoglobins; Blood Pressure	Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure.	Neutrophil degranulation	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006914;autophagy;IEA|GO:0007040;lysosome organization;TAS|GO:0007041;lysosomal transport;TAS|GO:0007417;central nervous system development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010976;positive regulation of neuron projection development;ISS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043627;response to estrogen;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051597;response to methylmercury;IEA|GO:0061580;colon epithelial cell migration;IMP	GO:0005576;extracellular region;TAS|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0009986;cell surface;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0004065;arylsulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARSB	https://www.uniprot.org/uniprot/P15848	https://hpo.jax.org/app/browse/search?q=ARSB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611542	http://www.informatics.jax.org/searchtool/Search.do?query=ARSB&submit=Quick%0D%4340ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSB	rs918581	0.152955	0	0	1	0	0	intronic	intronic	intronic	ARSB	ARSB	ENSG00000113273	Na	Na	Na	Na	Na	Na	Het;C>T	584;9|16	Hom;C>T	1287;0|31
N	N	-	5	78265096	78265096	C	T	snp	intronic	 	 	 	 	ARSB	Arsb	ENSG00000113273	arylsulfatase B	chr5:78073032-78281910	Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Neutrophils; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; Exercise Test; Hip; Lymphocytes; hippocampal atrophy; Hippocampus; serum markers of iron status; Ferritins; Tobacco Use Disorder; Hemoglobins; Blood Pressure	Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure.	Neutrophil degranulation	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006914;autophagy;IEA|GO:0007040;lysosome organization;TAS|GO:0007041;lysosomal transport;TAS|GO:0007417;central nervous system development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010976;positive regulation of neuron projection development;ISS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043627;response to estrogen;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051597;response to methylmercury;IEA|GO:0061580;colon epithelial cell migration;IMP	GO:0005576;extracellular region;TAS|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0009986;cell surface;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0004065;arylsulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARSB	https://www.uniprot.org/uniprot/P15848	https://hpo.jax.org/app/browse/search?q=ARSB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611542	http://www.informatics.jax.org/searchtool/Search.do?query=ARSB&submit=Quick%0D%4340ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSB	rs918580	0.290935	0	0	1	0	0	intronic	intronic	intronic	ARSB	ARSB	ENSG00000113273	Na	Na	Na	Na	Na	Na	Het;C>T	555;8|14	Hom;C>T	1263;0|26
N	N	-	5	7835555	7835555	C	G	snp	nonsynonymous SNV	G204C	Q68H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	C5orf49	1700001L19Rik	ENSG00000215217	chromosome 5 open reading frame 49	chr5:7830491-7851603			 					http://www.genecards.org/index.php?path=/Search/keyword/C5orf49				http://www.informatics.jax.org/searchtool/Search.do?query=C5orf49&submit=Quick%0D%18319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5orf49	rs6883562	0.177316	0.2311	0.2134	0.42	5	12	exonic	exonic	exonic	C5orf49	C5orf49	ENSG00000215217	nonsynonymous SNV	nonsynonymous SNV	unknown	C5orf49:NM_001089584:exon2:c.G204C:p.Q68H,	C5orf49:uc003jea.5:exon2:c.G204C:p.Q68H,	UNKNOWN	Het;C>G	1011;67|54	Hom;C>G	2307;0|86
N	N	-	5	79367478	79367480	TAC	T	indel	ncRNA_intronic	 	 	 	 	BC047373																		rs58150348	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	CTD-2201I18.1	BC047373	ENSG00000249825	Na	Na	Na	Na	Na	Na	Het;-AC	554;11|27	Hom;-AC	794;4|30
N	N	-	5	79817898	79817898	A	G	snp	synonymous SNV	A612G	R204R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	FAM151B	Fam151b	ENSG00000152380	family with sequence similarity 151 member B	chr5:79783788-79838382			 		GO:0006629;lipid metabolic process;IEA		GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAM151B	https://www.uniprot.org/uniprot/Q6UXP7			http://www.informatics.jax.org/searchtool/Search.do?query=FAM151B&submit=Quick%0D%9539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM151B	rs2431224	0.0303514	0.0581	0.0492	1	0	0	exonic	exonic	exonic	FAM151B	FAM151B	ENSG00000152380	synonymous SNV	synonymous SNV	unknown	FAM151B:NM_205548:exon5:c.A612G:p.R204R,	FAM151B:uc003kgv.2:exon5:c.A612G:p.R204R,	UNKNOWN	Het;A>G	1455;133|76	Hom;A>G	4887;2|185
N	N	-	5	801172	801172	C	T	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs10462848	0.258187	0.1471	0.1498	1	0	0	intronic	intronic	intronic	ZDHHC11	ZDHHC11	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;C>T	131;9|7	Hom;C>T	898;0|34
N	N	-	5	8151217	8151217	A	G	snp	intergenic	 	 	 	 	RNU1-76P																		rs7723051	0.647364	0	0	1	0	0	intergenic	intergenic	intergenic	MTRR(dist=249982),LOC729506(dist=182379)	MTRR(dist=249982),LOC729506(dist=182379)	ENSG00000199773(dist=170800),ENSG00000249486(dist=6437)	Na	Na	Na	Na	Na	Na	Het;A>G	849;92|48	Hom;A>G	3481;0|130
N	N	-	5	822109	822109	C	A	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs12655323	0.341653	0	0	1	0	0	intronic	intronic	intronic	ZDHHC11	ZDHHC11	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;C>A	38;10|3	Hom;C>A	507;0|13
N	N	-	5	825209	825209	G	A	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs4997173	0.123602	0	0	1	0	0	intronic	intronic	intronic	ZDHHC11	ZDHHC11	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;G>A	120;12|7	Hom;G>A	239;0|8
N	N	-	5	825280	825280	C	T	snp	nonsynonymous SNV	G1022A	R341Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs1809008	0.374201	0.2490	0.2223	0.09	1	11	exonic	exonic	exonic	ZDHHC11	ZDHHC11	ENSG00000188818	nonsynonymous SNV	nonsynonymous SNV	unknown	ZDHHC11:NM_024786:exon8:c.G1022A:p.R341Q,	ZDHHC11:uc011cma.1:exon8:c.G1022A:p.R341Q,	UNKNOWN	Het;C>T	1052;27|40	Hom;C>T	1222;1|45
N	N	-	5	825443	825443	G	A	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs10065461	0.122804	0	0	1	0	0	intronic	intronic	intronic	ZDHHC11	ZDHHC11	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;G>A	188;13|8	Hom;G>A	518;1|21
N	N	-	5	825540	825540	C	T	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs4045371	0	0	0	1	0	0	intronic	intronic	intronic	ZDHHC11	ZDHHC11	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;C>T	95;1|3	Hom;C>T	138;0|4
N	N	-	5	83476194	83476194	G	A	snp	intronic	 	 	 	 	EDIL3	Edil3	ENSG00000164176	EGF like repeats and discoidin domains 3	chr5:83236373-83680611	The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]	Hypertension|Pre-Eclampsia|Pregnancy Complications; Blood Pressure; obesity; Schizophrenia; Ventricular Function, Left; Macular Degeneration; Echocardiography; Forced Expiratory Volume; Waist Circumference; plasma chemerin levels ; Glucose; Chemokines; Tobacco Use Disorder; E-Selectin	Mice homozygous for a null mutation are viable and fertile with no noticeable fur phenotype.		GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EDIL3			https://www.ncbi.nlm.nih.gov/omim/?term=606018	http://www.informatics.jax.org/searchtool/Search.do?query=EDIL3&submit=Quick%0D%11233ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EDIL3	rs163715	0.308706	0.3046	0.3643	1	0	0	intronic	intronic	intronic	EDIL3	EDIL3	ENSG00000164176	Na	Na	Na	Na	Na	Na	Het;G>A	390;11|18	Hom;G>A	945;0|36
N	N	-	5	837447	837447	C	T	snp	intronic	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs4081848	0	0.0434	0.0971	1	0	0	intronic	intronic	intronic	ZDHHC11	ZDHHC11	ENSG00000188818	Na	Na	Na	Na	Na	Na	Het;C>T	602;119|42	Hom;C>T	1390;6|59
N	N	-	5	840506	840506	C	T	snp	unknown	 	 	 	 	ZDHHC11	Zdhhc11	ENSG00000188818	zinc finger DHHC-type containing 11	chr5:710471-851101		Tobacco Use Disorder	 			GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11				http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11	rs7701283	0	0	0.5241	1	0	0	intronic	UTR3	exonic	ZDHHC11	ZDHHC11(uc003jbk.4:c.*28G>A)	ENSG00000188818	Na	Na	unknown	Na	Na	UNKNOWN	Het;C>T	747;6|27	Hom;C>T	612;0|20
N	N	-	5	84630241	84630241	A	G	snp	intergenic	 	 	 	 	AC117522.1																		rs536011	0.739018	0	0	1	0	0	intergenic	intergenic	intergenic	EDIL3(dist=949556),NBPF22P(dist=948021)	EDIL3(dist=949630),NBPF22P(dist=948021)	ENSG00000248170(dist=96349),ENSG00000248667(dist=85605)	Na	Na	Na	Na	Na	Na	Het;A>G	1032;47|50	Hom;A>G	1867;0|66
N	N	-	5	85180171	85180171	A	C	snp	intergenic	 	 	 	 	AC026414.1																		rs2974096	0.616813	0	0	1	0	0	intergenic	intergenic	intergenic	EDIL3(dist=1499486),NBPF22P(dist=398091)	EDIL3(dist=1499560),NBPF22P(dist=398091)	ENSG00000249153(dist=35154),ENSG00000250359(dist=203173)	Na	Na	Na	Na	Na	Na	Het;A>C	840;24|39	Hom;A>C	973;0|34
N	N	-	5	87305069	87305069	A	C	snp	intergenic	 	 	 	 	LINC02144																		rs12659535	0.850839	0	0	1	0	0	intergenic	intergenic	intergenic	CCNH(dist=596219),TMEM161B(dist=180381)	CCNH(dist=596219),TMEM161B(dist=185954)	ENSG00000248708(dist=275983),ENSG00000164180(dist=180381)	Na	Na	Na	Na	Na	Na	Het;A>C	164;1|6	Hom;A>C	130;0|4
N	N	-	5	87305237	87305237	A	AT	indel	intergenic	 	 	 	 	LINC02144																		rs35187735	0	0	0	1	0	0	intergenic	intergenic	intergenic	CCNH(dist=596387),TMEM161B(dist=180213)	CCNH(dist=596387),TMEM161B(dist=185786)	ENSG00000248708(dist=276151),ENSG00000164180(dist=180213)	Na	Na	Na	Na	Na	Na	Het;+T	814;43|39	Hom;+T	2383;2|88
N	N	-	5	881087	881087	C	A	snp	intronic	 	 	 	 	BRD9	Brd9	ENSG00000028310	bromodomain containing 9	chr5:850406-892939		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND|GO:0016569;covalent chromatin modification;IEA	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;NAS|GO:0005515;protein binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRD9	https://www.uniprot.org/uniprot/Q9H8M2			http://www.informatics.jax.org/searchtool/Search.do?query=BRD9&submit=Quick%0D%725ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD9	rs16880430	0.142971	0	0	1	0	0	intronic	intronic	intronic	BRD9	BRD9	ENSG00000028310	Na	Na	Na	Na	Na	Na	Het;C>A	33;2|2	Hom;C>A	220;0|7
N	N	-	5	884251	884251	G	A	snp	intronic	 	 	 	 	BRD9	Brd9	ENSG00000028310	bromodomain containing 9	chr5:850406-892939		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND|GO:0016569;covalent chromatin modification;IEA	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;NAS|GO:0005515;protein binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRD9	https://www.uniprot.org/uniprot/Q9H8M2			http://www.informatics.jax.org/searchtool/Search.do?query=BRD9&submit=Quick%0D%725ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD9	rs3747740	0.142772	0	0	1	0	0	intronic	intronic	intronic	BRD9	BRD9	ENSG00000028310	Na	Na	Na	Na	Na	Na	Het;G>A	126;5|6	Hom;G>A	849;0|30
N	N	-	5	88762625	88762625	G	GATTT	indel	ncRNA_intronic	 	 	 	 	AC074131.1																		rs10641417	0.635783	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MEF2C-AS1(dist=434432),MIR3660(dist=549813)	AL050132(dist=499529),MIR3660(dist=549813)	ENSG00000250831	Na	Na	Na	Na	Na	Na	Het;+ATTT	1309;67|36	Hom;+ATTT	5142;0|114
N	N	-	5	891440	891440	T	A	snp	UTR5	-1626A>T	 	 	 	BRD9	Brd9	ENSG00000028310	bromodomain containing 9	chr5:850406-892939		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND|GO:0016569;covalent chromatin modification;IEA	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;NAS|GO:0005515;protein binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRD9	https://www.uniprot.org/uniprot/Q9H8M2			http://www.informatics.jax.org/searchtool/Search.do?query=BRD9&submit=Quick%0D%725ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD9	rs7730935	0.150759	0.0876	0.1151	1	0	0	intronic	intronic	UTR5	BRD9	BRD9	ENSG00000028310(ENST00000489093:c.-1626A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	325;34|16	Hom;T>A	1598;0|51
N	N	-	5	892204	892204	G	C	snp	UTR5	-337C>G	 	 	 	BRD9	Brd9	ENSG00000028310	bromodomain containing 9	chr5:850406-892939		Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND|GO:0016569;covalent chromatin modification;IEA	GO:0005575;cellular_component;ND	GO:0003676;nucleic acid binding;NAS|GO:0005515;protein binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRD9	https://www.uniprot.org/uniprot/Q9H8M2			http://www.informatics.jax.org/searchtool/Search.do?query=BRD9&submit=Quick%0D%725ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD9	rs6864340	0.14357	0	0	1	0	0	intronic	intronic	UTR5	BRD9	BRD9	ENSG00000028310(ENST00000489816:c.-337C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	591;29|28	Hom;G>C	2170;2|83
N	N	-	5	895111	895112	CA	C	indel	intronic	 	 	 	 	TRIP13	Trip13	ENSG00000071539	thyroid hormone receptor interactor 13	chr5:892758-919472	This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]		Mice homozygous for a gene trapped allele exhibit postnatal lethality, infertility, reduced gonad size, tail defects and meiotic arrest of sperm and oocytes associated with unrepaired double strand breaks.		GO:0001556;oocyte maturation;IEA|GO:0006302;double-strand break repair;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007130;synaptonemal complex assembly;IEA|GO:0007131;reciprocal meiotic recombination;IEA|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA|GO:0048477;oogenesis;IEA|GO:0051321;meiotic cell cycle;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA	GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;TAS	GO:0000166;nucleotide binding;IEA|GO:0003712;transcription cofactor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TRIP13	https://www.uniprot.org/uniprot/Q15645	https://hpo.jax.org/app/browse/search?q=TRIP13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604507	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP13&submit=Quick%0D%1399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP13	rs66843001	0.408147	0.3309	0.2073	1	0	0	intronic	intronic	intronic	TRIP13	TRIP13	ENSG00000071539	Na	Na	Na	Na	Na	Na	Het;-A	735;33|30	Hom;-A	2050;1|66
N	N	-	5	896983	896983	A	G	snp	intronic	 	 	 	 	TRIP13	Trip13	ENSG00000071539	thyroid hormone receptor interactor 13	chr5:892758-919472	This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]		Mice homozygous for a gene trapped allele exhibit postnatal lethality, infertility, reduced gonad size, tail defects and meiotic arrest of sperm and oocytes associated with unrepaired double strand breaks.		GO:0001556;oocyte maturation;IEA|GO:0006302;double-strand break repair;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007130;synaptonemal complex assembly;IEA|GO:0007131;reciprocal meiotic recombination;IEA|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA|GO:0048477;oogenesis;IEA|GO:0051321;meiotic cell cycle;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA	GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;TAS	GO:0000166;nucleotide binding;IEA|GO:0003712;transcription cofactor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TRIP13	https://www.uniprot.org/uniprot/Q15645	https://hpo.jax.org/app/browse/search?q=TRIP13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604507	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP13&submit=Quick%0D%1399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP13	rs920980	0.408347	0	0	1	0	0	intronic	intronic	intronic	TRIP13	TRIP13	ENSG00000071539	Na	Na	Na	Na	Na	Na	Het;A>G	561;38|27	Hom;A>G	1217;0|41
N	N	-	5	94321178	94321178	G	A	snp	intronic	 	 	 	 	MCTP1	Mctp1	ENSG00000175471	multiple C2 and transmembrane domain containing 1	chr5:94039446-94620279		Bipolar disorder; Bipolar Disorder; Body Composition; Body Mass Index; Myocardial Infarction; Body Height; Tobacco Use Disorder; Body Weight	 		GO:0019722;calcium-mediated signaling;NAS	GO:0005783;endoplasmic reticulum;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA	GO:0005509;calcium ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCTP1			https://www.ncbi.nlm.nih.gov/omim/?term=616296	http://www.informatics.jax.org/searchtool/Search.do?query=MCTP1&submit=Quick%0D%13705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP1	rs169822	0.292332	0	0	1	0	0	intronic	intronic	intronic	MCTP1	MCTP1	ENSG00000175471	Na	Na	Na	Na	Na	Na	Het;G>A	95;4|4	Hom;G>A	262;0|10
N	N	-	5	94353024	94353024	T	C	snp	intronic	 	 	 	 	MCTP1	Mctp1	ENSG00000175471	multiple C2 and transmembrane domain containing 1	chr5:94039446-94620279		Bipolar disorder; Bipolar Disorder; Body Composition; Body Mass Index; Myocardial Infarction; Body Height; Tobacco Use Disorder; Body Weight	 		GO:0019722;calcium-mediated signaling;NAS	GO:0005783;endoplasmic reticulum;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA	GO:0005509;calcium ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCTP1			https://www.ncbi.nlm.nih.gov/omim/?term=616296	http://www.informatics.jax.org/searchtool/Search.do?query=MCTP1&submit=Quick%0D%13705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP1	rs12658252	0.246406	0.1179	0.1852	1	0	0	intronic	intronic	intronic	MCTP1	MCTP1	ENSG00000175471	Na	Na	Na	Na	Na	Na	Het;T>C	1186;22|46	Hom;T>C	1553;0|53
N	N	-	5	95011426	95011426	A	G	snp	intronic	 	 	 	 	SPATA9	Spata9	ENSG00000145757	spermatogenesis associated 9	chr5:94987885-95034415	The putative NYD-SP16 protein may play an important role in testicular development/spermatogenesis and may be an important factor in male infertility.		Male mice homozygous for a mutation are viable and show normal fertility.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SPATA9	https://www.uniprot.org/uniprot/Q9BWV2		https://www.ncbi.nlm.nih.gov/omim/?term=608039	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA9&submit=Quick%0D%176ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA9	rs2548125	0.320487	0	0	1	0	0	intronic	intronic	intronic	SPATA9	SPATA9	ENSG00000145757	Na	Na	Na	Na	Na	Na	Het;A>G	326;6|10	Hom;A>G	565;0|17
N	N	-	5	95018382	95018382	G	T	snp	intronic	 	 	 	 	SPATA9	Spata9	ENSG00000145757	spermatogenesis associated 9	chr5:94987885-95034415	The putative NYD-SP16 protein may play an important role in testicular development/spermatogenesis and may be an important factor in male infertility.		Male mice homozygous for a mutation are viable and show normal fertility.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SPATA9	https://www.uniprot.org/uniprot/Q9BWV2		https://www.ncbi.nlm.nih.gov/omim/?term=608039	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA9&submit=Quick%0D%176ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA9	rs34895	0.268171	0	0	1	0	0	intronic	intronic	intronic	SPATA9	SPATA9	ENSG00000145757	Na	Na	Na	Na	Na	Na	Het;G>T	387;29|21	Hom;G>T	1015;0|34
N	N	-	5	95119408	95119408	T	C	snp	intronic	 	 	 	 	RHOBTB3	Rhobtb3	ENSG00000164292	Rho related BTB domain containing 3	chr5:95049226-95160087	RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]	kidney aging; Blood Pressure; Carotid Arteries; Phosphorus; Triglycerides; Diabetes Mellitus	Mice homozygous for a knock-out allele exhibit preweaning lethality, reduced body weight and slightly reduced organ weights that varies by sex.	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0008584;male gonad development;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;TAS|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RHOBTB3			https://www.ncbi.nlm.nih.gov/omim/?term=607353	http://www.informatics.jax.org/searchtool/Search.do?query=RHOBTB3&submit=Quick%0D%11264ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHOBTB3	rs888808	0.40615	0	0	1	0	0	intronic	intronic	intronic	RHOBTB3	RHOBTB3	ENSG00000164292,ENSG00000173221	Na	Na	Na	Na	Na	Na	Het;T>C	61;9|4	Hom;T>C	407;0|13
N	N	-	5	95152085	95152085	A	G	snp	intronic	 	 	 	 	GLRX	Glrx	ENSG00000173221	glutaredoxin	chr5:95087023-95158709	This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]	Aging/ Telomere Length; cognitive trait; Hypertension|Pre-Eclampsia|Pregnancy Complications; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; arsnic exposure; arsenic 	Mice homozygous for a null allele do not exhibit any increased injury in response to oxidative insults to the heart or lungs but mouse embryonic fibroblast derived from these embryos are more sensative to diquat and paraqut and more resistant to apoptosis induced by TNF-alpha plus actinomyosin D.	Interconversion of nucleotide di- and triphosphates	GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0045838;positive regulation of membrane potential;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0080058;protein deglutathionylation;TAS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0016740;transferase activity;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0097573;glutathione oxidoreductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GLRX			https://www.ncbi.nlm.nih.gov/omim/?term=600443	http://www.informatics.jax.org/searchtool/Search.do?query=GLRX&submit=Quick%0D%13315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX	rs6556883	0.683706	0	0	1	0	0	intronic	intronic	intronic	GLRX	GLRX	ENSG00000164292,ENSG00000173221	Na	Na	Na	Na	Na	Na	Het;A>G	56;1|4	Hom;A>G	142;0|6
N	N	-	5	95152313	95152313	A	G	snp	synonymous SNV	T225C	I75I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GLRX	Glrx	ENSG00000173221	glutaredoxin	chr5:95087023-95158709	This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]	Aging/ Telomere Length; cognitive trait; Hypertension|Pre-Eclampsia|Pregnancy Complications; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; arsnic exposure; arsenic 	Mice homozygous for a null allele do not exhibit any increased injury in response to oxidative insults to the heart or lungs but mouse embryonic fibroblast derived from these embryos are more sensative to diquat and paraqut and more resistant to apoptosis induced by TNF-alpha plus actinomyosin D.	Interconversion of nucleotide di- and triphosphates	GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0045838;positive regulation of membrane potential;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0080058;protein deglutathionylation;TAS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0016740;transferase activity;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0097573;glutathione oxidoreductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GLRX			https://www.ncbi.nlm.nih.gov/omim/?term=600443	http://www.informatics.jax.org/searchtool/Search.do?query=GLRX&submit=Quick%0D%13315ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX	rs4561	0.301318	0.3972	0.3710	1	0	0	exonic	exonic	exonic	GLRX	GLRX	ENSG00000173221	synonymous SNV	synonymous SNV	unknown	GLRX:NM_001118890:exon2:c.T225C:p.I75I,GLRX:NM_001243659:exon2:c.T225C:p.I75I,GLRX:NM_001243658:exon2:c.T225C:p.I75I,GLRX:NM_002064:exon2:c.T225C:p.I75I,	GLRX:uc021ybn.1:exon2:c.T225C:p.I75I,GLRX:uc021ybo.1:exon2:c.T225C:p.I75I,GLRX:uc003kln.4:exon2:c.T225C:p.I75I,GLRX:uc003klo.4:exon2:c.T225C:p.I75I,	UNKNOWN	Het;A>G	553;46|32	Hom;A>G	1243;0|46
N	N	-	5	95194571	95194571	T	C	snp	unknown	 	 	 	 	LINC01554																		rs13168014	0.601438	0	0.5527	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	LINC01554	C5orf27	ENSG00000236882	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	1126;32|50	Hom;T>C	2085;1|65
N	N	-	5	95414786	95414786	T	TTAAAA	indel	upstream	 	 	 	 	MIR583																		rs5869706	0.59405	0.6075	0	1	0	0	ncRNA_intronic	upstream	ncRNA_intronic	LOC101929710	MIR583	ENSG00000250551,ENSG00000251314	Na	Na	Na	Na	Na	Na	Het;+TAAAA	180;1|3	Hom;+TAAAA	267;0|5
N	N	-	5	96568858	96568858	C	A	snp	ncRNA_intronic	 	 	 	 	LIX1-AS1																		rs67340817	0.391773	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	RIOK2(dist=49853),LINC01340(dist=271542)	RIOK2(dist=49853),HM358988(dist=1105820)	ENSG00000251513	Na	Na	Na	Na	Na	Na	Het;C>A	110;11|6	Hom;C>A	262;0|10
N	N	-	5	96617277	96617277	G	T	snp	ncRNA_intronic	 	 	 	 	LIX1-AS1																		rs2643557	0.411941	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	RIOK2(dist=98272),LINC01340(dist=223123)	RIOK2(dist=98272),HM358988(dist=1057401)	ENSG00000251513	Na	Na	Na	Na	Na	Na	Het;G>T	1299;94|71	Hom;G>T	2731;0|103
N	N	-	5	96664705	96664705	T	A	snp	ncRNA_intronic	 	 	 	 	LIX1-AS1																		rs3104165	0.38139	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	RIOK2(dist=145700),LINC01340(dist=175695)	RIOK2(dist=145700),HM358988(dist=1009973)	ENSG00000251513	Na	Na	Na	Na	Na	Na	Het;T>A	316;8|10	Hom;T>A	359;0|14
N	N	-	5	97549136	97549136	G	A	snp	ncRNA_exonic	 	 	 	 	AC116347.1																		rs61733886	0.235823	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01340(dist=542381),RGMB(dist=555863)	RIOK2(dist=1030131),HM358988(dist=125542)	ENSG00000238000	Na	Na	Na	Na	Na	Na	Het;G>A	239;21|14	Hom;G>A	940;0|36
N	N	-	5	98616675	98616675	T	C	snp	intergenic	 	 	 	 	LINC02062																		rs7732277	0.573882	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100289230(dist=349962),CTD-2151A2.1(dist=253019)	LOC100289230(dist=349962),DQ597441(dist=241805)	ENSG00000248489(dist=285958),ENSG00000249444(dist=208588)	Na	Na	Na	Na	Na	Na	Het;T>C	337;8|16	Hom;T>C	859;0|30
N	N	-	5	99263712	99263712	T	C	snp	intergenic	 	 	 	 	AC008837.2																		rs13182682	0.174521	0	0	1	0	0	intergenic	intergenic	intergenic	CTD-2151A2.1(dist=350054),LOC100133050(dist=451497)	DQ596041(dist=403202),JB137812(dist=118418)	ENSG00000248928(dist=332711),ENSG00000250391(dist=20287)	Na	Na	Na	Na	Na	Na	Het;T>C	376;18|20	Hom;T>C	795;0|33
N	N	-	5	99263794	99263794	T	C	snp	intergenic	 	 	 	 	AC008837.2																		rs7709164	0.174121	0	0	1	0	0	intergenic	intergenic	intergenic	CTD-2151A2.1(dist=350136),LOC100133050(dist=451415)	DQ596041(dist=403284),JB137812(dist=118336)	ENSG00000248928(dist=332793),ENSG00000250391(dist=20205)	Na	Na	Na	Na	Na	Na	Het;T>C	75;1|4	Hom;T>C	177;0|6
N	N	-	6	10035875	10035875	G	A	snp	intronic	 	 	 	 	OFCC1	Ofcc1	ENSG00000181355	orofacial cleft 1 candidate 1	chr6:9596343-10211841		schizophrenia; Tunica Media; Adiponectin; Calcium	Mice homozygous for a knock-out allele exhibit normal skull morphology and normal behavior with in increase in gamma-glutamyl transpeptidase.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/OFCC1			https://www.ncbi.nlm.nih.gov/omim/?term=614287	http://www.informatics.jax.org/searchtool/Search.do?query=OFCC1&submit=Quick%0D%14608ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OFCC1	rs2327221	0.236621	0	0	1	0	0	intergenic	intronic	intronic	LOC100506207(dist=1250197),TFAP2A(dist=361041)	OFCC1	ENSG00000181355	Na	Na	Na	Na	Na	Na	Het;G>A	130;2|5	Hom;G>A	112;0|4
N	N	-	6	10285798	10285808	ATTTTTTTTTT	A	indel	intergenic	 	 	 	 	RNU6ATAC21P																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	LOC100506207(dist=1500120),TFAP2A(dist=111108)	NONE(dist=NONE),TFAP2A(dist=111108)	ENSG00000221583(dist=63404),ENSG00000216781(dist=80018)	Na	Na	Na	Na	Na	Na	Het;-TTTTTTTTTT	156;3|4	Hom;-TTTTTTTTTT	142;0|4
N	N	-	6	10628014	10628014	T	C	snp	UTR3	*1174T>C	 	 	 	GCNT2	Gcnt2	ENSG00000111846	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	chr6:10492456-10629601	This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Central Nervous System; Alkaline Phosphatase; prostate cancer; Cholesterol; Brain; congenital cataracts	Mice homozygous for a knock-out allele show hypoactivity, a reduced B cell number, epidermoid cyst formation in male abdominal skin, and impaired renal function with increased blood urea nitrogen and creatinine levels and vacuolization of renal tubular epithelial cells in aging mice.		GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IMP|GO:0007275;multicellular organism development;TAS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0010608;posttranscriptional regulation of gene expression;IMP|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IMP|GO:0036438;maintenance of lens transparency;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP	GO:0000139;Golgi membrane;IEA|GO:0005575;cellular_component;ND|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0008109;N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity;IEA|GO:0008375;acetylglucosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCNT2	https://www.uniprot.org/uniprot/Q8N0V5	https://hpo.jax.org/app/browse/search?q=GCNT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600429	http://www.informatics.jax.org/searchtool/Search.do?query=GCNT2&submit=Quick%0D%4147ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCNT2	rs13210512	0.109425	0	0	1	0	0	UTR3	UTR3	UTR3	GCNT2(NM_145649:c.*1174T>C,NM_001491:c.*1174T>C,NM_145655:c.*1174T>C)	GCNT2(uc010jol.3:c.*1174T>C,uc010joo.3:c.*1174T>C,uc003mzc.4:c.*1174T>C,uc003mzd.3:c.*1174T>C,uc003mze.3:c.*1174T>C)	ENSG00000111846(ENST00000379597:c.*1174T>C,ENST00000316170:c.*1174T>C,ENST00000265012:c.*1174T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	457;40|23	Hom;T>C	1346;0|48
N	N	-	6	106987161	106987161	A	G	snp	intronic	 	 	 	 	AIM1	Aim1																	rs783397	0.666933	0	0	1	0	0	intronic	intronic	intronic	AIM1	AIM1	ENSG00000112297	Na	Na	Na	Na	Na	Na	Het;A>G	83;1|3	Hom;A>G	150;0|5
N	N	-	6	107009090	107009090	G	A	snp	intronic	 	 	 	 	AIM1	Aim1																	rs965347	0.744609	0	0	1	0	0	intronic	intronic	intronic	AIM1	AIM1	ENSG00000112297	Na	Na	Na	Na	Na	Na	Het;G>A	192;1|8	Hom;G>A	427;0|14
N	N	-	6	107386793	107386793	C	T	snp	UTR3	*3115G>A	 	 	 	BEND3	Bend3	ENSG00000178409	BEN domain containing 3	chr6:107386386-107436473			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000183;chromatin silencing at rDNA;IMP|GO:0006306;DNA methylation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0034773;histone H4-K20 trimethylation;IDA|GO:0036124;histone H3-K9 trimethylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0080182;histone H3-K4 trimethylation;IMP|GO:0098532;histone H3-K27 trimethylation;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005720;nuclear heterochromatin;IDA|GO:0005730;nucleolus;IDA	GO:0000182;rDNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BEND3			https://www.ncbi.nlm.nih.gov/omim/?term=616374	http://www.informatics.jax.org/searchtool/Search.do?query=BEND3&submit=Quick%0D%14184ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BEND3	rs1060369	0.361422	0	0	1	0	0	UTR3	UTR3	UTR3	BEND3(NM_001080450:c.*3115G>A)	BEND3(uc003prs.2:c.*3115G>A)	ENSG00000178409(ENST00000369042:c.*3115G>A,ENST00000429433:c.*3115G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	42;2|3	Hom;C>T	156;0|7
N	N	-	6	10901020	10901020	G	C	snp	intronic	 	 	 	 	SYCP2L	Sycp2l	ENSG00000153157	synaptonemal complex protein 2 like	chr6:10748027-10979553		age at menarche/menopause; menarche and menopause (age at onset); Cholesterol, LDL; Phospholipids; Menarche; Menopause	Female mice homozygous for a knock-out allele exhibit early reproductive senescence.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/SYCP2L	https://www.uniprot.org/uniprot/Q5T4T6		https://www.ncbi.nlm.nih.gov/omim/?term=616799	http://www.informatics.jax.org/searchtool/Search.do?query=SYCP2L&submit=Quick%0D%9634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYCP2L	rs9379922	0.623802	0	0	1	0	0	intronic	intronic	intronic	SYCP2L	SYCP2L	ENSG00000153157,ENSG00000272162	Na	Na	Na	Na	Na	Na	Het;G>C	80;6|5	Hom;G>C	344;0|13
N	N	-	6	10911282	10911282	G	A	snp	intronic	 	 	 	 	SYCP2L	Sycp2l	ENSG00000153157	synaptonemal complex protein 2 like	chr6:10748027-10979553		age at menarche/menopause; menarche and menopause (age at onset); Cholesterol, LDL; Phospholipids; Menarche; Menopause	Female mice homozygous for a knock-out allele exhibit early reproductive senescence.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/SYCP2L	https://www.uniprot.org/uniprot/Q5T4T6		https://www.ncbi.nlm.nih.gov/omim/?term=616799	http://www.informatics.jax.org/searchtool/Search.do?query=SYCP2L&submit=Quick%0D%9634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYCP2L	rs4713044	0.771166	0	0	1	0	0	intronic	intronic	intronic	SYCP2L	SYCP2L	ENSG00000153157,ENSG00000272162	Na	Na	Na	Na	Na	Na	Het;G>A	160;3|6	Hom;G>A	228;0|8
N	N	-	6	111898352	111898353	CT	C	indel	ncRNA_exonic	 	 	 	 	TRAF3IP2-AS1																		rs11350237	0	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	TRAF3IP2-AS1	TRAF3IP2,TRAF3IP2-AS1	ENSG00000231889	Na	Na	Na	Na	Na	Na	Het;-T	416;3|23	Hom;-T	868;0|39
N	N	-	6	11476618	11476618	T	A	snp	ncRNA_intronic	 	 	 	 	BC030116																		rs6926422	0.620607	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	NEDD9(dist=94037),TMEM170B(dist=61842)	BC030116	ENSG00000233656	Na	Na	Na	Na	Na	Na	Het;T>A	44;2|3	Hom;T>A	157;0|7
N	N	-	6	11476635	11476635	C	A	snp	ncRNA_intronic	 	 	 	 	BC030116																		rs6899820	0.597045	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	NEDD9(dist=94054),TMEM170B(dist=61825)	BC030116	ENSG00000233656	Na	Na	Na	Na	Na	Na	Het;C>A	39;2|3	Hom;C>A	126;0|5
N	N	-	6	116968513	116968513	T	C	snp	intronic	 	 	 	 	ZUFSP	Zufsp	ENSG00000153975	zinc finger with UFM1 specific peptidase domain	chr6:116956781-116989957			 				GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZUFSP	https://www.uniprot.org/uniprot/Q96AP4			http://www.informatics.jax.org/searchtool/Search.do?query=ZUFSP&submit=Quick%0D%9708ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZUFSP	rs6568959	0.405351	0	0	1	0	0	intronic	intronic	intronic	ZUFSP	ZUFSP	ENSG00000153975	Na	Na	Na	Na	Na	Na	Het;T>C	97;7|4	Hom;T>C	100;0|4
N	N	-	6	12291112	12291112	T	C	snp	intronic	 	 	 	 	EDN1	Edn1	ENSG00000078401	endothelin 1	chr6:12290596-12297427	This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	Total IgE. Eosinophilia. DRS; heart failure; cardiomyopathy, idiopathic dilated; Atherosclerosis|Myocardial Infarction; lymphoma; hypertension; glaucoma, normal tension; lung cancer ; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; polycystic kidney disease; Glomerulonephritis, IGA; Sarcoidosis; Hepatopulmonary Syndrome|Liver Cirrhosis; Angina Pectoris, Variant; normal variation; atherosclerosis, coronary; atherosclerosis, coronary cholesterol, HDL; plasma HDL cholesterol (HDL-C) levels; atherosclerosis; blood pressure; preeclampsia; blood pressure; endothelin-1; chronic obstructive pulmonary disease; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Psoriasis; left ventricular hypertrophy; blood flow; left ventricular function; endothelin-1; SIDS/sudden infant death syndrome; atherosclerosis, generalized; Migraine Disorders|Stroke; asthma; atopy; Asthma; Arthritis, Rheumatoid|Hypertension; Obesity|Sleep Apnea, Obstructive; Heart Failure; asthma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hypoplastic Left Heart Syndrome; periodontitis; retinopathy, diabetic; psoriasis; cystic fibrosis; Hypercholesterolemia|LDLC levels; blood pressure, arterial; Diabetes Mellitus|Heart Failure|Myocardial Infarction|Peripheral Vascular Diseases; Alzheimer's disease ; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; sickle cell anemia; vitiligo; sclerosis, systemic; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Atopy; diabetes, type 2 ischemic disease of lower limbs myocardial infarct; patent ductus arteriosus; Pre-Eclampsia; Sleep Apnea, Obstructive; lymphoma, cutaneous T-cell; Chronic Obstructive Pulmonary Disease; left ventricular hypertrophy; diabetic nephropathy; restenosis; Acute Coronary Syndrome|Inflammation; arrhythmia, cardiac; cerebral infarct, atherothrombotic; body mass hypertension; nephropathy, IgA; diabetes, type 2; Kidney Failure, Chronic; Hypertension; left ventricular hypertrophy; blood pressure, arterial; Asthma|; Atherosclerosis|Coronary Artery Disease|Heart Failure|Hypertension|Kidney Diseases; Type 2 diabetes; vasoconstriction; null; Cleft Lip|Cleft Palate; glaucoma; Syncope, Vasovagal; stroke, lacunar; small-vessel disease; respiratory syncytial virus bronchiolitis; lung cancer; coronary artery disease; kidney dysfunction; IgA nephropathy; hypertension, cirrhotic portal; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; metabolic syndrome; Abortion, Spontaneous; Chronic renal failure|Kidney Failure, Chronic; mood disorders; glaucoma; glaucoma, primary open-angle; Vitiligo; hypertension; cirrhosis; plasma endothelin-1 levels	Homozygotes for a targeted null mutation exhibit cardiovascular malformations, craniofacial abnormalities, and lethality due to respiratory failure at birth. Heterozygotes develop elevated arterial blood pressure.	G alpha (q) signalling events	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IEA|GO:0001516;prostaglandin biosynthetic process;IDA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001821;histamine secretion;IEA|GO:0003100;regulation of systemic arterial blood pressure by endothelin;IDA|GO:0006885;regulation of pH;IEA|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;IDA|GO:0007507;heart development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0007589;body fluid secretion;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0010193;response to ozone;IEA|GO:0010259;multicellular organism aging;IEA|GO:0010460;positive regulation of heart rate;IDA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IDA|GO:0010870;positive regulation of receptor biosynthetic process;IDA|GO:0014032;neural crest cell development;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0014823;response to activity;IEA|GO:0014824;artery smooth muscle contraction;IDA|GO:0014826;vein smooth muscle contraction;IDA|GO:0015758;glucose transport;IEA|GO:0016049;cell growth;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019722;calcium-mediated signaling;IDA|GO:0030072;peptide hormone secretion;IDA|GO:0030185;nitric oxide transport;IDA|GO:0030195;negative regulation of blood coagulation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030818;negative regulation of cAMP biosynthetic process;IEA|GO:0031583;phospholipase D-activating G-protein coupled receptor signaling pathway;IEA|GO:0032269;negative regulation of cellular protein metabolic process;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033574;response to testosterone;IEA|GO:0034392;negative regulation of smooth muscle cell apoptotic process;IEA|GO:0034696;response to prostaglandin F;IEA|GO:0035094;response to nicotine;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0035810;positive regulation of urine volume;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0035994;response to muscle stretch;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0042310;vasoconstriction;IDA|GO:0042313;protein kinase C deactivation;IDA|GO:0042474;middle ear morphogenesis;IEA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042554;superoxide anion generation;IEA|GO:0043179;rhythmic excitation;IEA|GO:0043200;response to amino acid;IEA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043507;positive regulation of JUN kinase activity;IDA|GO:0044321;response to leptin;IEA|GO:0045321;leukocyte activation;TAS|GO:0045429;positive regulation of nitric oxide biosynthetic process;TAS|GO:0045793;positive regulation of cell size;IDA|GO:0045840;positive regulation of mitotic nuclear division;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0045987;positive regulation of smooth muscle contraction;IEA|GO:0046887;positive regulation of hormone secretion;IDA|GO:0046888;negative regulation of hormone secretion;IEA|GO:0048016;inositol phosphate-mediated signaling;IDA|GO:0048514;blood vessel morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050880;regulation of blood vessel size;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051216;cartilage development;IEA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IEA|GO:0051771;negative regulation of nitric-oxide synthase biosynthetic process;IDA|GO:0051899;membrane depolarization;IEA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0060137;maternal process involved in parturition;IEA|GO:0060298;positive regulation of sarcomere organization;IMP|GO:0060585;positive regulation of prostaglandin-endoperoxide synthase activity;IMP|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;IDA|GO:0070101;positive regulation of chemokine-mediated signaling pathway;IC|GO:0071277;cellular response to calcium ion;IEA|GO:0071346;cellular response to interferon-gamma;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0071389;cellular response to mineralocorticoid stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071548;response to dexamethasone;IEA|GO:0071559;response to transforming growth factor beta;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA|GO:1902074;response to salt;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0030133;transport vesicle;TAS|GO:0033093;Weibel-Palade body;IEA|GO:0045178;basal part of cell;IEA|GO:0048237;rough endoplasmic reticulum lumen;IEA	GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IDA|GO:0005179;hormone activity;IDA|GO:0005515;protein binding;IPI|GO:0031707;endothelin A receptor binding;IDA|GO:0031708;endothelin B receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EDN1	https://www.uniprot.org/uniprot/P05305	https://hpo.jax.org/app/browse/search?q=EDN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131240	http://www.informatics.jax.org/searchtool/Search.do?query=EDN1&submit=Quick%0D%1661ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EDN1	rs2070698	0.51278	0	0	1	0	0	intronic	intronic	intronic	EDN1	EDN1	ENSG00000078401	Na	Na	Na	Na	Na	Na	Het;T>C	114;5|4	Hom;T>C	141;0|4
N	N	-	6	129622055	129622055	A	G	snp	intronic	 	 	 	 	LAMA2	Lama2	ENSG00000196569	laminin subunit alpha 2	chr6:129204342-129837714	Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]	Cholesterol, HDL; Body Weight; Echocardiography; Tobacco Use Disorder; Body Mass Index; tuberculoid type of leprosy; Exercise Test; Uric Acid; leprosy; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Amyotrophic Lateral Sclerosis	Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.	MET activates PTK2 signaling	GO:0007155;cell adhesion;IEA|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;TAS|GO:0014037;Schwann cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0032224;positive regulation of synaptic transmission, cholinergic;IEA|GO:0045995;regulation of embryonic development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;ISS|GO:0042383;sarcolemma;IEA|GO:0043197;dendritic spine;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMA2		https://hpo.jax.org/app/browse/search?q=LAMA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=156225	http://www.informatics.jax.org/searchtool/Search.do?query=LAMA2&submit=Quick%0D%16404ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA2	rs902373	0.303714	0.3538	0.3995	1	0	0	intronic	intronic	intronic	LAMA2	LAMA2	ENSG00000196569	Na	Na	Na	Na	Na	Na	Het;A>G	517;51|29	Hom;A>G	2198;0|80
N	N	-	6	129901198	129901198	G	GA	indel	intronic	 	 	 	 	ARHGAP18	Arhgap18	ENSG00000146376	Rho GTPase activating protein 18	chr6:129897277-130031370	ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]	Amyotrophic Lateral Sclerosis|; Alzheimer Disease; schizophrenia	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IMP|GO:0008360;regulation of cell shape;IMP|GO:0030833;regulation of actin filament polymerization;IMP|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:2000145;regulation of cell motility;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0005096;GTPase activator activity;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP18	https://www.uniprot.org/uniprot/Q8N392		https://www.ncbi.nlm.nih.gov/omim/?term=613351	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP18&submit=Quick%0D%8871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP18	rs202176182	0.0147764	0.0121	0.0167	1	0	0	intronic	intronic	intronic	ARHGAP18	ARHGAP18	ENSG00000146376	Na	Na	Na	Na	Na	Na	Het;+A	369;20|19	Hom;+A	1369;0|50
N	N	-	6	129905067	129905067	C	T	snp	intronic	 	 	 	 	ARHGAP18	Arhgap18	ENSG00000146376	Rho GTPase activating protein 18	chr6:129897277-130031370	ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]	Amyotrophic Lateral Sclerosis|; Alzheimer Disease; schizophrenia	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IMP|GO:0008360;regulation of cell shape;IMP|GO:0030833;regulation of actin filament polymerization;IMP|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:2000145;regulation of cell motility;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0005096;GTPase activator activity;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP18	https://www.uniprot.org/uniprot/Q8N392		https://www.ncbi.nlm.nih.gov/omim/?term=613351	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP18&submit=Quick%0D%8871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP18	rs183131837	0.0131789	0	0	1	0	0	intronic	intronic	intronic	ARHGAP18	ARHGAP18	ENSG00000146376	Na	Na	Na	Na	Na	Na	Het;C>T	181;22|10	Hom;C>T	1217;0|41
N	N	-	6	129921771	129921771	T	C	snp	intronic	 	 	 	 	ARHGAP18	Arhgap18	ENSG00000146376	Rho GTPase activating protein 18	chr6:129897277-130031370	ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]	Amyotrophic Lateral Sclerosis|; Alzheimer Disease; schizophrenia	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IMP|GO:0008360;regulation of cell shape;IMP|GO:0030833;regulation of actin filament polymerization;IMP|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:2000145;regulation of cell motility;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0005096;GTPase activator activity;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP18	https://www.uniprot.org/uniprot/Q8N392		https://www.ncbi.nlm.nih.gov/omim/?term=613351	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP18&submit=Quick%0D%8871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP18	rs41285296	0.0453275	0.0593	0.0682	1	0	0	intronic	intronic	intronic	ARHGAP18	ARHGAP18	ENSG00000146376	Na	Na	Na	Na	Na	Na	Het;T>C	738;21|29	Hom;T>C	2477;1|83
N	N	-	6	129927014	129927014	A	G	snp	intronic	 	 	 	 	ARHGAP18	Arhgap18	ENSG00000146376	Rho GTPase activating protein 18	chr6:129897277-130031370	ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]	Amyotrophic Lateral Sclerosis|; Alzheimer Disease; schizophrenia	 	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IMP|GO:0008360;regulation of cell shape;IMP|GO:0030833;regulation of actin filament polymerization;IMP|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:2000145;regulation of cell motility;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0005096;GTPase activator activity;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP18	https://www.uniprot.org/uniprot/Q8N392		https://www.ncbi.nlm.nih.gov/omim/?term=613351	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP18&submit=Quick%0D%8871ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP18	rs3813366	0.503994	0.4970	0.4315	1	0	0	intronic	intronic	intronic	ARHGAP18	ARHGAP18	ENSG00000146376	Na	Na	Na	Na	Na	Na	Het;A>G	770;52|40	Hom;A>G	1889;0|70
N	N	-	6	130152479	130152479	T	C	snp	synonymous SNV	A372G	S124S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TMEM244		ENSG00000203756	transmembrane protein 244	chr6:130152389-130182692		Obesity; Exercise Test; Heart Failure				GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM244				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM244&submit=Quick%0D%17133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM244	rs7758540	0.459465	0.6359	0.5499	1	0	0	exonic	exonic	exonic	TMEM244	TMEM244	ENSG00000203756	synonymous SNV	synonymous SNV	unknown	TMEM244:NM_001010876:exon5:c.A372G:p.S124S,	TMEM244:uc003qbs.3:exon5:c.A372G:p.S124S,	UNKNOWN	Het;T>C	603;42|31	Hom;T>C	1999;0|74
N	N	-	6	130152520	130152520	A	C	snp	nonsynonymous SNV	T331G	F111V	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM244		ENSG00000203756	transmembrane protein 244	chr6:130152389-130182692		Obesity; Exercise Test; Heart Failure				GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM244				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM244&submit=Quick%0D%17133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM244	rs7776426	0.242612	0.4000	0.3674	0.58	7	12	exonic	exonic	exonic	TMEM244	TMEM244	ENSG00000203756	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM244:NM_001010876:exon5:c.T331G:p.F111V,	TMEM244:uc003qbs.3:exon5:c.T331G:p.F111V,	UNKNOWN	Het;A>C	678;48|36	Hom;A>C	2423;0|88
N	N	-	6	131013087	131013087	G	A	snp	intergenic	 	 	 	 	Y_RNA																		rs564607145	0	0	0	1	0	0	intergenic	intergenic	intergenic	TMEM200A(dist=248877),SMLR1(dist=135458)	TMEM200A(dist=248877),Mir_562(dist=79827)	ENSG00000202438(dist=117830),ENSG00000229923(dist=5370)	Na	Na	Na	Na	Na	Na	Het;G>A	253;16|12	Hom;G>A	692;0|27
N	N	-	6	131148486	131148486	C	T	snp	upstream	 	 	 	 	SMLR1		ENSG00000256162	small leucine rich protein 1	chr6:131148546-131158275						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMLR1				http://www.informatics.jax.org/searchtool/Search.do?query=SMLR1&submit=Quick%0D%20174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMLR1	rs9402289	0.479433	0	0	1	0	0	upstream	upstream	upstream	SMLR1	SMLR1	ENSG00000256162	Na	Na	Na	Na	Na	Na	Het;C>T	171;5|6	Hom;C>T	540;0|17
N	N	-	6	131148737	131148737	G	A	snp	nonsynonymous SNV	G184A	V62M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SMLR1		ENSG00000256162	small leucine rich protein 1	chr6:131148546-131158275						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMLR1				http://www.informatics.jax.org/searchtool/Search.do?query=SMLR1&submit=Quick%0D%20174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMLR1	rs1044303	0.479433	0	0.4148	0.71	5	7	exonic	exonic	exonic	SMLR1	SMLR1	ENSG00000256162	nonsynonymous SNV	nonsynonymous SNV	unknown	SMLR1:NM_001195597:exon1:c.G184A:p.V62M,	SMLR1:uc011ebx.2:exon1:c.G184A:p.V62M,	UNKNOWN	Het;G>A	800;50|38	Hom;G>A	2499;1|93
N	N	-	6	131148863	131148863	A	T	snp	intronic	 	 	 	 	SMLR1		ENSG00000256162	small leucine rich protein 1	chr6:131148546-131158275						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMLR1				http://www.informatics.jax.org/searchtool/Search.do?query=SMLR1&submit=Quick%0D%20174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMLR1	rs9388856	0.479433	0	0	1	0	0	intronic	intronic	intronic	SMLR1	SMLR1	ENSG00000256162	Na	Na	Na	Na	Na	Na	Het;A>T	305;15|14	Hom;A>T	1198;0|41
N	N	-	6	131156102	131156102	G	T	snp	UTR3	*7G>T	 	 	 	SMLR1		ENSG00000256162	small leucine rich protein 1	chr6:131148546-131158275						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMLR1				http://www.informatics.jax.org/searchtool/Search.do?query=SMLR1&submit=Quick%0D%20174ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMLR1	rs6975	0.365415	0	0.3391	1	0	0	UTR3	UTR3	UTR3	SMLR1(NM_001195597:c.*7G>T)	SMLR1(uc011ebx.2:c.*7G>T)	ENSG00000256162(ENST00000541421:c.*7G>T)	Na	Na	Na	Na	Na	Na	Het;G>T	1042;55|54	Hom;G>T	3081;0|115
N	N	-	6	131184770	131184770	T	G	snp	intronic	 	 	 	 	EPB41L2	Epb41l2	ENSG00000079819	erythrocyte membrane protein band 4.1 like 2	chr6:131160487-131384462		Cholesterol, LDL; Electrocardiography; Cholesterol, HDL; CD40 Ligand; Hematocrit; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.	Neurexins and neuroligins	GO:0001558;regulation of cell growth;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008091;spectrin;TAS|GO:0008180;COP9 signalosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030507;spectrin binding;IEA|GO:0042731;PH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L2	https://www.uniprot.org/uniprot/O43491		https://www.ncbi.nlm.nih.gov/omim/?term=603237	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L2&submit=Quick%0D%1713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L2	rs915172	0.418331	0.3843	0.3582	1	0	0	intronic	intronic	intronic	EPB41L2	EPB41L2	ENSG00000079819	Na	Na	Na	Na	Na	Na	Het;T>G	1395;81|71	Hom;T>G	3729;2|146
N	N	-	6	131184914	131184914	C	T	snp	intronic	 	 	 	 	EPB41L2	Epb41l2	ENSG00000079819	erythrocyte membrane protein band 4.1 like 2	chr6:131160487-131384462		Cholesterol, LDL; Electrocardiography; Cholesterol, HDL; CD40 Ligand; Hematocrit; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.	Neurexins and neuroligins	GO:0001558;regulation of cell growth;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008091;spectrin;TAS|GO:0008180;COP9 signalosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030507;spectrin binding;IEA|GO:0042731;PH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L2	https://www.uniprot.org/uniprot/O43491		https://www.ncbi.nlm.nih.gov/omim/?term=603237	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L2&submit=Quick%0D%1713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L2	rs915171	0.285743	0.3046	0	1	0	0	intronic	intronic	intronic	EPB41L2	EPB41L2	ENSG00000079819	Na	Na	Na	Na	Na	Na	Het;C>T	162;10|7	Hom;C>T	686;0|23
N	N	-	6	131184975	131184975	C	G	snp	intronic	 	 	 	 	EPB41L2	Epb41l2	ENSG00000079819	erythrocyte membrane protein band 4.1 like 2	chr6:131160487-131384462		Cholesterol, LDL; Electrocardiography; Cholesterol, HDL; CD40 Ligand; Hematocrit; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.	Neurexins and neuroligins	GO:0001558;regulation of cell growth;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008091;spectrin;TAS|GO:0008180;COP9 signalosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030507;spectrin binding;IEA|GO:0042731;PH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L2	https://www.uniprot.org/uniprot/O43491		https://www.ncbi.nlm.nih.gov/omim/?term=603237	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L2&submit=Quick%0D%1713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L2	rs867707	0.420327	0	0	1	0	0	intronic	intronic	intronic	EPB41L2	EPB41L2	ENSG00000079819	Na	Na	Na	Na	Na	Na	Het;C>G	34;5|2	Hom;C>G	178;0|5
N	N	-	6	131190838	131190838	G	A	snp	synonymous SNV	C606T	P202P	hydrophobic,neutral	hydrophobic,neutral	EPB41L2	Epb41l2	ENSG00000079819	erythrocyte membrane protein band 4.1 like 2	chr6:131160487-131384462		Cholesterol, LDL; Electrocardiography; Cholesterol, HDL; CD40 Ligand; Hematocrit; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.	Neurexins and neuroligins	GO:0001558;regulation of cell growth;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008091;spectrin;TAS|GO:0008180;COP9 signalosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030507;spectrin binding;IEA|GO:0042731;PH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L2	https://www.uniprot.org/uniprot/O43491		https://www.ncbi.nlm.nih.gov/omim/?term=603237	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L2&submit=Quick%0D%1713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L2	rs17059736	0.159545	0.1643	0.1472	1	0	0	exonic	exonic	exonic	EPB41L2	EPB41L2	ENSG00000079819	synonymous SNV	synonymous SNV	unknown	EPB41L2:NM_001431:exon15:c.C2472T:p.P824P,	EPB41L2:uc003qce.1:exon4:c.C606T:p.P202P,EPB41L2:uc003qch.2:exon15:c.C2472T:p.P824P,EPB41L2:uc003qcj.1:exon4:c.C663T:p.P221P,	UNKNOWN	Het;G>A	2091;82|90	Hom;G>A	5428;4|200
N	N	-	6	131276466	131276467	GA	G	indel	intronic	 	 	 	 	EPB41L2	Epb41l2	ENSG00000079819	erythrocyte membrane protein band 4.1 like 2	chr6:131160487-131384462		Cholesterol, LDL; Electrocardiography; Cholesterol, HDL; CD40 Ligand; Hematocrit; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.	Neurexins and neuroligins	GO:0001558;regulation of cell growth;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008091;spectrin;TAS|GO:0008180;COP9 signalosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030507;spectrin binding;IEA|GO:0042731;PH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L2	https://www.uniprot.org/uniprot/O43491		https://www.ncbi.nlm.nih.gov/omim/?term=603237	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L2&submit=Quick%0D%1713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L2	rs34763200	0.614217	0.4331	0.4581	1	0	0	intronic	intronic	intronic	EPB41L2	EPB41L2	ENSG00000079819	Na	Na	Na	Na	Na	Na	Het;-A	1218;30|33	Hom;-A	2880;2|68
N	N	-	6	131276473	131276473	A	G	snp	intronic	 	 	 	 	EPB41L2	Epb41l2	ENSG00000079819	erythrocyte membrane protein band 4.1 like 2	chr6:131160487-131384462		Cholesterol, LDL; Electrocardiography; Cholesterol, HDL; CD40 Ligand; Hematocrit; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.	Neurexins and neuroligins	GO:0001558;regulation of cell growth;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008091;spectrin;TAS|GO:0008180;COP9 signalosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030507;spectrin binding;IEA|GO:0042731;PH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L2	https://www.uniprot.org/uniprot/O43491		https://www.ncbi.nlm.nih.gov/omim/?term=603237	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L2&submit=Quick%0D%1713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L2	rs45550834	0.614217	0	0.4541	1	0	0	intronic	intronic	intronic	EPB41L2	EPB41L2	ENSG00000079819	Na	Na	Na	Na	Na	Na	Het;A>G	1227;29|33	Hom;A>G	2889;2|69
N	N	-	6	131327109	131327109	G	A	snp	intronic	 	 	 	 	EPB41L2	Epb41l2	ENSG00000079819	erythrocyte membrane protein band 4.1 like 2	chr6:131160487-131384462		Cholesterol, LDL; Electrocardiography; Cholesterol, HDL; CD40 Ligand; Hematocrit; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.	Neurexins and neuroligins	GO:0001558;regulation of cell growth;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0008091;spectrin;TAS|GO:0008180;COP9 signalosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030507;spectrin binding;IEA|GO:0042731;PH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L2	https://www.uniprot.org/uniprot/O43491		https://www.ncbi.nlm.nih.gov/omim/?term=603237	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L2&submit=Quick%0D%1713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L2	rs186737199	0.00339457	0	0	1	0	0	intronic	intronic	intronic	EPB41L2	EPB41L2	ENSG00000079819	Na	Na	Na	Na	Na	Na	Het;G>A	1440;137|82	Hom;G>A	4376;18|184
N	N	-	6	131802294	131802294	G	C	snp	intergenic	 	 	 	 	RPL21P67																		rs2608945	0.520767	0	0	1	0	0	intergenic	intergenic	intergenic	AKAP7(dist=197619),ARG1(dist=92050)	AKAP7(dist=197619),ARG1(dist=92050)	ENSG00000219776(dist=11618),ENSG00000118520(dist=91990)	Na	Na	Na	Na	Na	Na	Het;G>C	244;11|10	Hom;G>C	845;0|25
N	N	-	6	131802325	131802325	T	C	snp	intergenic	 	 	 	 	RPL21P67																		rs2807276	0.521166	0	0	1	0	0	intergenic	intergenic	intergenic	AKAP7(dist=197650),ARG1(dist=92019)	AKAP7(dist=197650),ARG1(dist=92019)	ENSG00000219776(dist=11649),ENSG00000118520(dist=91959)	Na	Na	Na	Na	Na	Na	Het;T>C	268;21|13	Hom;T>C	1114;0|38
N	N	-	6	131995209	131995209	T	C	snp	intronic	 	 	 	 	ENPP3	Enpp3	ENSG00000154269	ectonucleotide pyrophosphatase/phosphodiesterase 3	chr6:131949582-132068553	The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]	Tobacco Use Disorder	Mice homozygous for a knockout allele exhibit increased numbers of basophils and mast cells with increased susceptibility to chronic allergic responses.	Vitamin B5 (pantothenate) metabolism	GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA|GO:0008152;metabolic process;IEA|GO:0009143;nucleoside triphosphate catabolic process;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004528;phosphodiesterase I activity;TAS|GO:0004551;nucleotide diphosphatase activity;TAS|GO:0005044;scavenger receptor activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030247;polysaccharide binding;IEA|GO:0035529;NADH pyrophosphatase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047429;nucleoside-triphosphate diphosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ENPP3	https://www.uniprot.org/uniprot/O14638		https://www.ncbi.nlm.nih.gov/omim/?term=602182	http://www.informatics.jax.org/searchtool/Search.do?query=ENPP3&submit=Quick%0D%9753ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPP3	rs6930385	0.846246	0	0	1	0	0	intronic	intronic	intronic	ENPP3	ENPP3	ENSG00000154269	Na	Na	Na	Na	Na	Na	Het;T>C	133;3|7	Hom;T>C	251;0|9
N	N	-	6	132168996	132169000	GGTGT	G	indel	intronic	 	 	 	 	ENPP1	Enpp1	ENSG00000197594	ectonucleotide pyrophosphatase/phosphodiesterase 1	chr6:132129156-132216295	This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]	POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Kidney Failure, Chronic; diabetes, type 2 metabolic syndrome; diabetes, type 2 obesity; body mass; osteoarthritis; preeclampsia; metabolic syndrome; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Diabetes Mellitus, Type 2|Peripheral Vascular Diseases; Glomerulonephritis, IGA; Alzheimer's disease ; null; Polycystic Ovary Syndrome; myocardial infarct; atherosclerosis, generalized diabetes, type 2 hypertension obesity; Diabetes Mellitus, Type 2|; Cardiovascular Diseases|Diabetes Mellitus, Type 2|Hyperglycemia|Insulin Resistance; Calcinosis|Coronary Artery Disease|Kidney Failure, Chronic; obesity|Type 2 diabetes; ossification of spine; insulin left ventricular mass; Type 2 diabetes; schizophrenia; Diabetes Mellitus, Type 2|Obesity, Morbid; diabetes, type 2 insulin obesity; Obesity|Overweight; polycystic ovary syndrome; Hepatitis C|Viremia; nephropathy, diabetic; obesity; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperinsulinism; diabetes, type 2; Heart Failure; insulin; lipoprotein; lipids; atherosclerosis, coronary; diabetes, type 2; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; insulin; obesity; leptin; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X|Myocardial ischemia; diabetes, type 2; obesity; ossification of the posterior longitudinal ligament of the spine (OPLL); insulin; ossification of the posterior longitudinal ligament; chondrocalcinosis; glucose insulin obesity; Obesity; Diabetes Complications|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease; diabetes, type 2; insulin; Coronary Disease|Diabetes Mellitus, Type 2|Obesity|Overweight; Bone Mineral Density; ossification of the posterior longitudinal ligament of the spine; Hypertension|Insulin Resistance; Neutrophils; nephropathy in other diseases; Diabetes Mellitus, Type 2|Metabolic Syndrome X|Obesity; hypertriglyceridemia; Type 2 Diabetes| edema | rosiglitazone; bladder cancer; cholesterol; diabetes, type 2; insulin; glucose; insulin resistance; PC-1 protein content; systolic blood pressure; Acute Coronary Syndrome|; Coronary Artery Disease; bone density; Diabetes Mellitus, Type 2|Obesity; atherosclerosis, coronary cerebrovascular disease, ischemic diabetes, type 2 metabolic syndrome; Fatty Liver|Insulin Resistance; body mass diabetes, type 2	Mice homozygous for a null allele develop hyperostosis leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification, and display spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation.	Vitamin B5 (pantothenate) metabolism	GO:0006091;generation of precursor metabolites and energy;IDA|GO:0006771;riboflavin metabolic process;TAS|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA|GO:0008152;metabolic process;IEA|GO:0009143;nucleoside triphosphate catabolic process;IDA|GO:0030308;negative regulation of cell growth;IDA|GO:0030500;regulation of bone mineralization;IC|GO:0030505;inorganic diphosphate transport;IDA|GO:0030643;cellular phosphate ion homeostasis;IDA|GO:0030730;sequestering of triglyceride;IDA|GO:0031214;biomineral tissue development;IEA|GO:0031953;negative regulation of protein autophosphorylation;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045719;negative regulation of glycogen biosynthetic process;IDA|GO:0046325;negative regulation of glucose import;IDA|GO:0046627;negative regulation of insulin receptor signaling pathway;IDA|GO:0050427;3'-phosphoadenosine 5'-phosphosulfate metabolic process;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016323;basolateral plasma membrane;NAS	GO:0003676;nucleic acid binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004528;phosphodiesterase I activity;IDA|GO:0004551;nucleotide diphosphatase activity;TAS|GO:0005044;scavenger receptor activity;IEA|GO:0005158;insulin receptor binding;IDA|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008270;zinc ion binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0030247;polysaccharide binding;IEA|GO:0035529;NADH pyrophosphatase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047429;nucleoside-triphosphate diphosphatase activity;IDA|GO:0050656;3'-phosphoadenosine 5'-phosphosulfate binding;IC	http://www.genecards.org/index.php?path=/Search/keyword/ENPP1		https://hpo.jax.org/app/browse/search?q=ENPP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=173335	http://www.informatics.jax.org/searchtool/Search.do?query=ENPP1&submit=Quick%0D%16669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPP1	rs373838049	0	0	0	1	0	0	intronic	intronic	intronic	ENPP1	ENPP1	ENSG00000197594	Na	Na	Na	Na	Na	Na	Het;-GTGT	755;14|20	Hom;-GTGT	2132;2|54
N	N	-	6	132270728	132270729	GA	G	indel	intronic	 	 	 	 	CTGF	Ctgf	ENSG00000118523	connective tissue growth factor	chr6:132269316-132272513	The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]	nephropathy, diabetic; Scleroderma, Systemic; systemic sclerosis; Scleroderma, Systemic|Systemic Scleroderma; Bone Mineral Density; Exercise Test; Liver Cirrhosis; Body Weights and Measures; biliary atresia; Cholesterol, HDL; Fibrosis|Lung Diseases, Interstitial|Scleroderma, Systemic; diabetes, type 1 ; esophageal adenocarcinoma; Blood Pressure; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Liver Cirrhosis|Schistosomiasis; lung cancer ; morbidity mortality; ovarian cancer; aortic stenosis	Homozygous null mice die at birth from respiratory failure due to axial skeletal defects and pulmonary hypoplasia associated with reduced cell proliferation, enhanced apoptosis and altered pneumocyte maturation. Osteogenesis is impaired due to impaired chondrogenesis and growth plate angiogenesis.	RUNX3 regulates YAP1-mediated transcription	GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0008544;epidermis development;TAS|GO:0009611;response to wounding;TAS|GO:0009749;response to glucose;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0032330;regulation of chondrocyte differentiation;IEA|GO:0032355;response to estradiol;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0034059;response to anoxia;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035988;chondrocyte proliferation;IEA|GO:0043200;response to amino acid;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045597;positive regulation of cell differentiation;IDA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0050867;positive regulation of cell activation;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051496;positive regulation of stress fiber assembly;IDA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060452;positive regulation of cardiac muscle contraction;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0061448;connective tissue development;IEA|GO:0070278;extracellular matrix constituent secretion;IEA|GO:0070318;positive regulation of G0 to G1 transition;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070542;response to fatty acid;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0072593;reactive oxygen species metabolic process;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005801;cis-Golgi network;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005938;cell cortex;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001968;fibronectin binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;TAS|GO:0008022;protein C-terminus binding;IPI|GO:0008083;growth factor activity;IEA|GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTGF	https://www.uniprot.org/uniprot/P29279		https://www.ncbi.nlm.nih.gov/omim/?term=121009	http://www.informatics.jax.org/searchtool/Search.do?query=CTGF&submit=Quick%0D%4989ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTGF	rs398002851	0.666334	0	0.6463	1	0	0	intronic	intronic	intronic	CTGF	CTGF	ENSG00000118523	Na	Na	Na	Na	Na	Na	Het;-A	350;3|18	Hom;-A	460;2|21
N	N	-	6	132322451	132322455	ATTTT	A	indel	ncRNA_intronic	 	 	 	 	AL133346.1																		rs397887315	0.249601	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	CTGF(dist=49933),MIR548AJ1(dist=113877)	CTGF(dist=49933),LOC100507254(dist=132663)	ENSG00000227220	Na	Na	Na	Na	Na	Na	Het;-TTTT	83;2|3	Hom;-TTTT	188;0|5
N	N	-	6	132641888	132641888	C	T	snp	intronic	 	 	 	 	MOXD1	Moxd1	ENSG00000079931	monooxygenase DBH like 1	chr6:132617194-132722684		Body Weight; Respiratory Function Tests; Cell Adhesion Molecules	 		GO:0006589;octopamine biosynthetic process;IBA|GO:0042420;dopamine catabolic process;IBA|GO:0042421;norepinephrine biosynthetic process;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;IBA	GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004500;dopamine beta-monooxygenase activity;IBA|GO:0005507;copper ion binding;IBA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016715;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOXD1	https://www.uniprot.org/uniprot/Q6UVY6		https://www.ncbi.nlm.nih.gov/omim/?term=609000	http://www.informatics.jax.org/searchtool/Search.do?query=MOXD1&submit=Quick%0D%1715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOXD1	rs598762	0.0996406	0.1716	0	1	0	0	intronic	intronic	intronic	MOXD1	MOXD1	ENSG00000079931	Na	Na	Na	Na	Na	Na	Het;C>T	342;9|15	Hom;C>T	729;0|27
N	N	-	6	132644035	132644035	G	A	snp	intronic	 	 	 	 	MOXD1	Moxd1	ENSG00000079931	monooxygenase DBH like 1	chr6:132617194-132722684		Body Weight; Respiratory Function Tests; Cell Adhesion Molecules	 		GO:0006589;octopamine biosynthetic process;IBA|GO:0042420;dopamine catabolic process;IBA|GO:0042421;norepinephrine biosynthetic process;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;IBA	GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004500;dopamine beta-monooxygenase activity;IBA|GO:0005507;copper ion binding;IBA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016715;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOXD1	https://www.uniprot.org/uniprot/Q6UVY6		https://www.ncbi.nlm.nih.gov/omim/?term=609000	http://www.informatics.jax.org/searchtool/Search.do?query=MOXD1&submit=Quick%0D%1715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOXD1	rs604196	0.609425	0.5057	0.4745	1	0	0	intronic	intronic	intronic	MOXD1	MOXD1	ENSG00000079931	Na	Na	Na	Na	Na	Na	Het;G>A	802;33|34	Hom;G>A	1489;0|51
N	N	-	6	132859609	132859609	T	A	snp	splicing	180+1T>A	 	 	 	TAAR9	Taar9	ENSG00000237110	trace amine associated receptor 9 (gene/pseudogene)	chr6:132859429-132860470	TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005]	personality; Coronary Artery Disease	 	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC	GO:0001594;trace-amine receptor activity;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TAAR9			https://www.ncbi.nlm.nih.gov/omim/?term=608282	http://www.informatics.jax.org/searchtool/Search.do?query=TAAR9&submit=Quick%0D%19472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAAR9	rs2842899	0.805711	0.7614	0.7533	1	0	0	exonic	splicing	exonic	TAAR9	TAAR9(uc011eci.2:exon1:c.180+1T>A)	ENSG00000237110	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;T>A	2978;104|133	Hom;T>A	5601;0|207
N	N	-	6	132860522	132860522	C	G	snp	downstream	 	 	 	 	TAAR9	Taar9	ENSG00000237110	trace amine associated receptor 9 (gene/pseudogene)	chr6:132859429-132860470	TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005]	personality; Coronary Artery Disease	 	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC	GO:0001594;trace-amine receptor activity;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TAAR9			https://www.ncbi.nlm.nih.gov/omim/?term=608282	http://www.informatics.jax.org/searchtool/Search.do?query=TAAR9&submit=Quick%0D%19472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAAR9	rs2842898	0.805711	0.7588	0.7684	1	0	0	downstream	downstream	downstream	TAAR9	TAAR9	ENSG00000237110	Na	Na	Na	Na	Na	Na	Het;C>G	516;21|20	Hom;C>G	1674;0|55
N	N	-	6	133645842	133645842	T	C	snp	intronic	 	 	 	 	EYA4	Eya4	ENSG00000112319	EYA transcriptional coactivator and phosphatase 4	chr6:133561736-133853258	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]	Arteries; Lipids; Heart Failure; Glucose; Cell Adhesion Molecules; protein quantitative trait loci; alpha-Macroglobulins; Tobacco Use Disorder; Blood Pressure	Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0007605;sensory perception of sound;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IBA|GO:0030154;cell differentiation;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0045739;positive regulation of DNA repair;IBA|GO:0048839;inner ear development;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYA4	https://www.uniprot.org/uniprot/O95677	https://hpo.jax.org/app/browse/search?q=EYA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603550	http://www.informatics.jax.org/searchtool/Search.do?query=EYA4&submit=Quick%0D%4227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA4	rs17302366	0.363618	0	0	1	0	0	intronic	intronic	intronic	EYA4	EYA4	ENSG00000112319	Na	Na	Na	Na	Na	Na	Het;T>C	116;1|4	Hom;T>C	121;0|4
N	N	-	6	133789728	133789728	G	A	snp	nonsynonymous SNV	G829A	G277S	aliphatic,neutral	polar,hydrophilic,neutral	EYA4	Eya4	ENSG00000112319	EYA transcriptional coactivator and phosphatase 4	chr6:133561736-133853258	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]	Arteries; Lipids; Heart Failure; Glucose; Cell Adhesion Molecules; protein quantitative trait loci; alpha-Macroglobulins; Tobacco Use Disorder; Blood Pressure	Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0007605;sensory perception of sound;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IBA|GO:0030154;cell differentiation;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0045739;positive regulation of DNA repair;IBA|GO:0048839;inner ear development;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYA4	https://www.uniprot.org/uniprot/O95677	https://hpo.jax.org/app/browse/search?q=EYA4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603550	http://www.informatics.jax.org/searchtool/Search.do?query=EYA4&submit=Quick%0D%4227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA4	rs9493627	0.409545	0.3830	0.3417	0.69	9	13	exonic	exonic	exonic	EYA4	EYA4	ENSG00000112319	nonsynonymous SNV	nonsynonymous SNV	unknown	EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_172105:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_001301012:exon9:c.G667A:p.G223S,	EYA4:uc011ecs.2:exon11:c.G829A:p.G277S,EYA4:uc003qee.4:exon10:c.G760A:p.G254S,EYA4:uc011ecq.2:exon10:c.G667A:p.G223S,EYA4:uc003qec.4:exon11:c.G829A:p.G277S,EYA4:uc003qed.4:exon11:c.G829A:p.G277S,EYA4:uc011ecr.2:exon9:c.G667A:p.G223S,	UNKNOWN	Het;G>A	1243;50|53	Hom;G>A	2335;0|83
N	N	-	6	133827148	133827148	T	C	snp	ncRNA_intronic	 	 	 	 	AK093513																		rs6929656	0.971246	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TARID	AK093513,BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;T>C	268;11|10	Hom;T>C	956;0|31
N	N	-	6	133827354	133827354	A	G	snp	ncRNA_exonic	 	 	 	 	TARID																		rs2277083	0.722244	0.6097	0.6335	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TARID	AK093513,BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;A>G	478;25|20	Hom;A>G	1982;0|70
N	N	-	6	133828424	133828424	G	C	snp	ncRNA_exonic	 	 	 	 	TARID																		rs6913726	0.719649	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TARID	AK093513,BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;G>C	197;23|12	Hom;G>C	439;0|17
N	N	-	6	133849789	133849789	A	G	snp	ncRNA_intronic	 	 	 	 	BC041459																		rs3822939	0.770367	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TARID	BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;A>G	583;28|25	Hom;A>G	740;0|26
N	N	-	6	133849966	133849966	C	T	snp	ncRNA_intronic	 	 	 	 	BC041459																		rs3734279	0.471046	0.3327	0.4343	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TARID	BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;C>T	1599;56|71	Hom;C>T	2486;0|93
N	N	-	6	133850246	133850247	AC	A	indel	ncRNA_intronic	 	 	 	 	BC041459																		rs3842093	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TARID	BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;-C	720;48|27	Hom;-C	1923;0|55
N	N	-	6	133851377	133851377	A	G	snp	ncRNA_intronic	 	 	 	 	BC041459																		rs9483586	0.834665	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	TARID	BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;A>G	672;31|31	Hom;A>G	1910;0|64
N	N	-	6	133858410	133858410	T	C	snp	ncRNA_exonic	 	 	 	 	TARID																		rs9402514	0.54992	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TARID	BC041459	ENSG00000227954	Na	Na	Na	Na	Na	Na	Het;T>C	2273;88|100	Hom;T>C	5045;3|178
N	N	-	6	134769013	134769013	G	A	snp	ncRNA_intronic	 	 	 	 	AJ606328																		rs3813343	0.420727	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01010,LOC101928231	AJ606328,AJ606330,BC040308	ENSG00000231971,ENSG00000236700	Na	Na	Na	Na	Na	Na	Het;G>A	32;6|3	Hom;G>A	205;0|9
N	N	-	6	134769073	134769073	C	T	snp	ncRNA_exonic;splicing	 	 	 	 	BC040308																		rs7763993	0.420727	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic;splicing	ncRNA_exonic	LOC101928231	BC040308;AJ606328(uc003qes.1:exon5:c.1016+1G>A),AJ606330(uc003qeq.1:exon5:c.601+1G>A)	ENSG00000231971	Na	Na	Na	Na	Na	Na	Het;C>T	141;15|8	Hom;C>T	471;0|20
N	N	-	6	134769162	134769163	CA	C	indel	ncRNA_intronic	 	 	 	 	AJ606328																		rs11321381	0.898962	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01010,LOC101928231	AJ606328,AJ606330,BC040308	ENSG00000231971,ENSG00000236700	Na	Na	Na	Na	Na	Na	Het;-A	253;2|14	Hom;-A	235;0|11
N	N	-	6	134775632	134775632	A	G	snp	ncRNA_exonic	 	 	 	 	LOC101928231																		rs6937846	0.807708	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101928231	AJ606328,AJ606330,BC040308	ENSG00000231971	Na	Na	Na	Na	Na	Na	Het;A>G	1253;51|59	Hom;A>G	2697;0|100
N	N	-	6	134786236	134786236	C	T	snp	ncRNA_intronic	 	 	 	 	AJ606328																		rs10872423	0.307708	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01010,LOC101928231	AJ606328,AJ606330,BC040308	ENSG00000231971,ENSG00000236700	Na	Na	Na	Na	Na	Na	Het;C>T	506;16|14	Hom;C>T	937;0|29
N	N	-	6	134799650	134799650	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101928231																		rs34139424	0.555511	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LOC101928231	AJ606328,BC040308	ENSG00000231971,ENSG00000236700	Na	Na	Na	Na	Na	Na	Het;C>T	1095;68|52	Hom;C>T	4092;1|155
N	N	-	6	136594187	136594187	C	T	snp	intronic	 	 	 	 	BCLAF1	Bclaf1	ENSG00000029363	BCL2 associated transcription factor 1	chr6:136578001-136610989	This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's	Mice homozygous for a knock-out allele exhibit postnatal lethality, impaired lung development, and T cell and B cell homeostasis abnormalities.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043620;regulation of DNA-templated transcription in response to stress;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2001022;positive regulation of response to DNA damage stimulus;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IDA	GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BCLAF1	https://www.uniprot.org/uniprot/Q9NYF8		https://www.ncbi.nlm.nih.gov/omim/?term=612588	http://www.informatics.jax.org/searchtool/Search.do?query=BCLAF1&submit=Quick%0D%729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCLAF1	rs79992381	0.014976	0.0297	0.0296	1	0	0	intronic	intronic	intronic	BCLAF1	BCLAF1	ENSG00000029363	Na	Na	Na	Na	Na	Na	Het;C>T	559;32|27	Hom;C>T	2180;0|80
N	N	-	6	137026266	137026266	T	G	snp	synonymous SNV	A129C	I43I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MAP3K5	Map3k5	ENSG00000197442	mitogen-activated protein kinase kinase kinase 5	chr6:136878185-137113656	Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]	Inflammation|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; atopy; Attention Deficit Disorder with Hyperactivity; Heart Rate; Diabetic Nephropathies; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Homozygous mutant mice are overtly normal, however apoptosis abnormalities are evident in cultured cells and after induced heart damage.	Oxidative Stress Induced Senescence	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002376;immune system process;IEA|GO:0002931;response to ischemia;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0007254;JNK cascade;IDA|GO:0007257;activation of JUN kinase activity;TAS|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IDA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;IEA|GO:0010941;regulation of cell death;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0034198;cellular response to amino acid starvation;IDA|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0038066;p38MAPK cascade;IEA|GO:0042060;wound healing;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045087;innate immune response;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0051403;stress-activated MAPK cascade;IDA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0072577;endothelial cell apoptotic process;IEA|GO:0097190;apoptotic signaling pathway;TAS|GO:0097300;programmed necrotic cell death;IEA|GO:1900745;positive regulation of p38MAPK cascade;IEA|GO:1901216;positive regulation of neuron death;IEA|GO:1902170;cellular response to reactive nitrogen species;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0043234;protein complex;IMP|GO:1902911;protein kinase complex;IDA|GO:1990604;IRE1-TRAF2-ASK1 complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004709;MAP kinase kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP3K5			https://www.ncbi.nlm.nih.gov/omim/?term=602448	http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K5&submit=Quick%0D%16627ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K5	rs9321567	0.641374	0.5751	0.5449	1	0	0	exonic	exonic	exonic	MAP3K5	MAP3K5	ENSG00000197442	synonymous SNV	synonymous SNV	unknown	MAP3K5:NM_005923:exon3:c.A594C:p.I198I,	MAP3K5:uc011edk.1:exon3:c.A129C:p.I43I,MAP3K5:uc003qhc.3:exon3:c.A594C:p.I198I,MAP3K5:uc010kgw.1:exon3:c.A594C:p.I198I,	UNKNOWN	Het;T>G	162;9|10	Hom;T>G	535;2|22
N	N	-	6	137913271	137913271	C	CA	indel	intergenic	 	 	 	 	BTF3L4P3																		rs150034097	0.107228	0	0	1	0	0	intergenic	intergenic	intergenic	OLIG3(dist=97740),LOC102723649(dist=73512)	OLIG3(dist=97740),LOC100130476(dist=231536)	ENSG00000213108(dist=47762),ENSG00000230533(dist=81326)	Na	Na	Na	Na	Na	Na	Het;+A	232;12|12	Hom;+A	534;1|21
N	N	-	6	138316708	138316708	A	G	snp	ncRNA_exonic	 	 	 	 	RPSAP42																		rs4473872	0.226038	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TNFAIP3(dist=112257),PERP(dist=92934)	TNFAIP3(dist=112257),PERP(dist=92934)	ENSG00000219463	Na	Na	Na	Na	Na	Na	Het;A>G	67;4|3	Hom;A>G	205;0|8
N	N	-	6	138317003	138317003	G	A	snp	ncRNA_exonic	 	 	 	 	RPSAP42																		rs12210441	0.221446	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TNFAIP3(dist=112552),PERP(dist=92639)	TNFAIP3(dist=112552),PERP(dist=92639)	ENSG00000219463	Na	Na	Na	Na	Na	Na	Het;G>A	36;4|3	Hom;G>A	300;0|11
N	N	-	6	13864629	13864629	G	A	snp	intergenic	 	 	 	 	AL023583.1																		rs1475251	0.446286	0	0	1	0	0	intergenic	intergenic	intergenic	MCUR1(dist=49837),RNF182(dist=60048)	Mir_548(dist=48913),RNF182(dist=60048)	ENSG00000272209(dist=37824),ENSG00000180537(dist=60048)	Na	Na	Na	Na	Na	Na	Het;G>A	314;14|15	Hom;G>A	586;0|21
N	N	-	6	139563914	139563914	C	G	snp	nonsynonymous SNV	G1804C	A602P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	TXLNB	Txlnb	ENSG00000164440	taxilin beta	chr6:139561198-139613276		Tobacco Use Disorder	 			GO:0005737;cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TXLNB			https://www.ncbi.nlm.nih.gov/omim/?term=611438	http://www.informatics.jax.org/searchtool/Search.do?query=TXLNB&submit=Quick%0D%11309ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXLNB	rs9495391	0.483826	0.5172	0.3884	0.08	1	13	exonic	exonic	exonic	TXLNB	TXLNB	ENSG00000164440	nonsynonymous SNV	nonsynonymous SNV	unknown	TXLNB:NM_153235:exon10:c.G1804C:p.A602P,	TXLNB:uc021zfy.1:exon10:c.G1804C:p.A602P,	UNKNOWN	Het;C>G	1438;70|61	Hom;C>G	1864;2|65
N	N	-	6	1399676	1399678	CAG	C	indel	intergenic	 	 	 	 	FOXF2	Foxf2	ENSG00000137273	forkhead box F2	chr6:1390069-1395832	FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]	Hypertension; Neuroblastoma; E-Selectin; Cleft Lip|Cleft Palate; Amyotrophic Lateral Sclerosis	Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities. Mice homozygous for an ENU mutation exhibit postnatal lethality without palate defect and abnormal anterior segment dysgenesis.		GO:0001837;epithelial to mesenchymal transition;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0042249;establishment of planar polarity of embryonic epithelium;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048566;embryonic digestive tract development;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048806;genitalia development;IMP|GO:0060021;palate development;IMP	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IBA|GO:0008134;transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FOXF2	https://www.uniprot.org/uniprot/Q12947		https://www.ncbi.nlm.nih.gov/omim/?term=603250	http://www.informatics.jax.org/searchtool/Search.do?query=FOXF2&submit=Quick%0D%7510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXF2	rs527853560	0	0	0	1	0	0	intergenic	intergenic	intergenic	FOXF2(dist=3844),FOXCUT(dist=206088)	FOXF2(dist=3844),BC087858(dist=96672)	ENSG00000137273(dist=3844),ENSG00000243439(dist=107879)	Na	Na	Na	Na	Na	Na	Het;-AG	77;3|3	Hom;-AG	98;0|3
N	N	-	6	140299541	140299541	T	C	snp	ncRNA_exonic	 	 	 	 	LOC103352541																		rs9495620	0.421326	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	intergenic	LOC103352541	BC038188	ENSG00000225148(dist=101013),ENSG00000236013(dist=89031)	Na	Na	Na	Na	Na	Na	Het;T>C	941;44|43	Hom;T>C	1927;0|75
N	N	-	6	141055121	141055121	G	A	snp	intergenic	 	 	 	 	MIR4465																		rs1521144	0.243011	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4465(dist=50101),NMBR(dist=1341624)	MIR4465(dist=50101),7SK(dist=752157)	ENSG00000264390(dist=50101),ENSG00000217684(dist=27545)	Na	Na	Na	Na	Na	Na	Het;G>A	287;10|13	Hom;G>A	697;0|28
N	N	-	6	141255030	141255030	A	G	snp	intergenic	 	 	 	 	AL357084.1																		rs9321790	0.328474	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4465(dist=250010),NMBR(dist=1141715)	MIR4465(dist=250010),7SK(dist=552248)	ENSG00000216548(dist=10983),ENSG00000259828(dist=513118)	Na	Na	Na	Na	Na	Na	Het;A>G	237;8|12	Hom;A>G	451;0|18
N	N	-	6	143091263	143091263	A	G	snp	nonsynonymous SNV	T4613C	L1538P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	HIVEP2	Hivep2	ENSG00000010818	human immunodeficiency virus type I enhancer binding protein 2	chr6:143072604-143266338	This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]	Parkinson Disease; Erythrocyte Count; Cholesterol	Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIVEP2	https://www.uniprot.org/uniprot/P31629	https://hpo.jax.org/app/browse/search?q=HIVEP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=143054	http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP2&submit=Quick%0D%534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP2	rs109836	0.978834	0.9766	0.9731	0.15	2	13	exonic	exonic	exonic	HIVEP2	HIVEP2	ENSG00000010818	nonsynonymous SNV	nonsynonymous SNV	unknown	HIVEP2:NM_006734:exon5:c.T4613C:p.L1538P,	HIVEP2:uc003qjd.3:exon5:c.T4613C:p.L1538P,	UNKNOWN	Het;A>G	1818;73|86	Hom;A>G	4176;0|155
N	N	-	6	143287984	143287984	A	T	snp	ncRNA_exonic	 	 	 	 	LINC01277																		rs3811091	0.303914	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01277	LOC100507489	ENSG00000229017	Na	Na	Na	Na	Na	Na	Het;A>T	1589;60|73	Hom;A>T	3613;0|135
N	N	-	6	143557090	143557090	C	G	snp	intronic	 	 	 	 	AIG1	Aig1	ENSG00000146416	androgen induced 1	chr6:143381633-143661441		Echocardiography; Insulin; Myocardial Infarction; C-Reactive Protein; Tobacco Use Disorder	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AIG1	https://www.uniprot.org/uniprot/Q9NVV5		https://www.ncbi.nlm.nih.gov/omim/?term=608514	http://www.informatics.jax.org/searchtool/Search.do?query=AIG1&submit=Quick%0D%8881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIG1	rs6570552	0.698682	0	0	1	0	0	intronic	intronic	intronic	AIG1	AIG1	ENSG00000146416	Na	Na	Na	Na	Na	Na	Het;C>G	342;8|14	Hom;C>G	358;0|15
N	N	-	6	144512671	144512671	T	TA	indel	UTR3	*4043T>TA	 	 	 	STX11	Stx11	ENSG00000135604	syntaxin 11	chr6:144471663-144509507	This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]	Lymphohistiocytosis, Hemophagocytic; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit defective CTL degranulation and symptoms of hemophagocytic lymphohistiocytosis following infection with LMCV.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0048278;vesicle docking;IBA|GO:0061025;membrane fusion;TAS	GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0031201;SNARE complex;IBA	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STX11	https://www.uniprot.org/uniprot/O75558	https://hpo.jax.org/app/browse/search?q=STX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605014	http://www.informatics.jax.org/searchtool/Search.do?query=STX11&submit=Quick%0D%7186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STX11	rs11397393	0.927716	0	0	1	0	0	UTR3	UTR3	intergenic	STX11(NM_003764:c.*4043T>TA)	STX11(uc003qks.4:c.*4043T>TA)	ENSG00000135604(dist=3164),ENSG00000217027(dist=8913)	Na	Na	Na	Na	Na	Na	Het;+A	562;4|27	Hom;+A	531;0|23
N	N	-	6	144794785	144794785	C	T	snp	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs4259269	0.152356	0	0	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;C>T	282;7|14	Hom;C>T	719;0|26
N	N	-	6	144796045	144796045	A	G	snp	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs73780588	0.209665	0	0	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;A>G	51;3|3	Hom;A>G	141;0|5
N	N	-	6	144803547	144803547	G	A	snp	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs4310077	0.256989	0.0855	0.0615	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;G>A	1273;57|37	Hom;G>A	1458;0|36
N	N	-	6	144806691	144806691	C	T	snp	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs9496982	0.362819	0.3777	0.2753	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;C>T	1968;90|97	Hom;C>T	3842;0|143
N	N	-	6	144843091	144843091	A	T	snp	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs13208386	0.491214	0	0.1503	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;A>T	187;12|9	Hom;A>T	369;0|11
N	N	-	6	144852201	144852201	G	A	snp	nonsynonymous SNV	G5920A	A1974T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs12204734	0.128794	0.1414	0.1819	0.23	3	13	exonic	exonic	exonic	UTRN	UTRN	ENSG00000152818	nonsynonymous SNV	nonsynonymous SNV	unknown	UTRN:NM_007124:exon41:c.G5920A:p.A1974T,	UTRN:uc003qkt.3:exon41:c.G5920A:p.A1974T,	UNKNOWN	Het;G>A	699;52|36	Hom;G>A	2088;0|77
N	N	-	6	144869785	144869785	A	G	snp	nonsynonymous SNV	A6605G	N2202S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs1534443	0.373003	0.2558	0.3007	0.08	1	13	exonic	exonic	exonic	UTRN	UTRN	ENSG00000152818	nonsynonymous SNV	nonsynonymous SNV	unknown	UTRN:NM_007124:exon46:c.A6605G:p.N2202S,	UTRN:uc003qkt.3:exon46:c.A6605G:p.N2202S,	UNKNOWN	Het;A>G	500;28|22	Hom;A>G	909;0|33
N	N	-	6	144870040	144870040	T	C	snp	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs1534442	0.370607	0.2543	0.3063	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;T>C	419;18|17	Hom;T>C	897;0|32
N	N	-	6	144872272	144872274	GAC	G	indel	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs575457390	0.378395	0	0	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;-AC	63;5|4	Hom;-AC	251;0|9
N	N	-	6	144875793	144875793	A	AT	indel	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs397969721	0.183906	0.1776	0.1918	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;+T	396;18|20	Hom;+T	786;1|32
N	N	-	6	144878565	144878565	G	GTATTT	indel	intronic	 	 	 	 	UTRN	Utrn	ENSG00000152818	utrophin	chr6:144606837-145174170	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]	Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins	Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.		GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA	GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTRN	https://www.uniprot.org/uniprot/P46939		https://www.ncbi.nlm.nih.gov/omim/?term=128240	http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN	rs3841164	0.659744	0	0	1	0	0	intronic	intronic	intronic	UTRN	UTRN	ENSG00000152818	Na	Na	Na	Na	Na	Na	Het;+TATTT	442;8|12	Hom;+TATTT	2019;0|48
N	N	-	6	1452521	1452521	C	T	snp	intergenic	 	 	 	 	FOXF2	Foxf2	ENSG00000137273	forkhead box F2	chr6:1390069-1395832	FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]	Hypertension; Neuroblastoma; E-Selectin; Cleft Lip|Cleft Palate; Amyotrophic Lateral Sclerosis	Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities. Mice homozygous for an ENU mutation exhibit postnatal lethality without palate defect and abnormal anterior segment dysgenesis.		GO:0001837;epithelial to mesenchymal transition;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0042249;establishment of planar polarity of embryonic epithelium;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048566;embryonic digestive tract development;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048806;genitalia development;IMP|GO:0060021;palate development;IMP	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IBA|GO:0008134;transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FOXF2	https://www.uniprot.org/uniprot/Q12947		https://www.ncbi.nlm.nih.gov/omim/?term=603250	http://www.informatics.jax.org/searchtool/Search.do?query=FOXF2&submit=Quick%0D%7510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXF2	rs35450839	0.259784	0	0	1	0	0	intergenic	intergenic	intergenic	FOXF2(dist=56689),FOXCUT(dist=153245)	FOXF2(dist=56689),BC087858(dist=43829)	ENSG00000137273(dist=56689),ENSG00000243439(dist=55036)	Na	Na	Na	Na	Na	Na	Het;C>T	155;4|8	Hom;C>T	92;0|4
N	N	-	6	147729477	147729477	T	G	snp	downstream	 	 	 	 	YAP1P1																		rs615828	0.695687	0	0	1	0	0	intergenic	intergenic	downstream	STXBP5(dist=17865),SAMD5(dist=100351)	STXBP5(dist=17865),SAMD5(dist=100351)	ENSG00000220494	Na	Na	Na	Na	Na	Na	Het;T>G	111;5|5	Hom;T>G	211;0|7
N	N	-	6	148853867	148853867	T	C	snp	intronic	 	 	 	 	SASH1	Sash1	ENSG00000111961	SAM and SH3 domain containing 1	chr6:148593440-148873186		Alzheimer's Disease; Insulin; Cleft Lip|Cleft Palate|Tooth Abnormalities; Magnesium; Tobacco Use Disorder; Diabetic Nephropathies; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone	 		GO:0000209;protein polyubiquitination;IDA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0031666;positive regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:1900044;regulation of protein K63-linked ubiquitination;IDA|GO:1900745;positive regulation of p38MAPK cascade;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902498;regulation of protein autoubiquitination;IDA	GO:0043234;protein complex;IMP	GO:0008022;protein C-terminus binding;IDA|GO:0019901;protein kinase binding;IDA|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IDA|GO:0032947;protein complex scaffold;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SASH1	https://www.uniprot.org/uniprot/O94885	https://hpo.jax.org/app/browse/search?q=SASH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607955	http://www.informatics.jax.org/searchtool/Search.do?query=SASH1&submit=Quick%0D%4164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SASH1	rs1465307	0.477636	0	0	1	0	0	intronic	intronic	intronic	SASH1	SASH1	ENSG00000111961	Na	Na	Na	Na	Na	Na	Het;T>C	836;34|32	Hom;T>C	1626;0|50
N	N	-	6	148919560	148919560	T	A	snp	intergenic	 	 	 	 	SNRPEP6																		rs6926406	0.30651	0	0	1	0	0	intergenic	intergenic	intergenic	SASH1(dist=46376),UST(dist=148711)	SASH1(dist=46376),UST(dist=148711)	ENSG00000217824(dist=30770),ENSG00000231368(dist=49283)	Na	Na	Na	Na	Na	Na	Het;T>A	419;15|21	Hom;T>A	1167;0|43
N	N	-	6	149601391	149601391	T	C	snp	intronic	 	 	 	 	TAB2	Tab2	ENSG00000055208	TGF-beta activated kinase 1/MAP3K7 binding protein 2	chr6:149539777-149732749	The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	hemostatic factors and hematological phenotypes; Graves' disease; rheumatoid arthritis; Myocardial Infarction; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response	Embryos homozygous for a knock-out allele are viable up to E9.5. Embryos homozygous for a different knock-out allele are normal and viable up to E11.5 but become pale and anemic, exhibit liver hemorrhage and increased apoptosis of hepatoblasts, and die by E12.5.	IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation	GO:0000187;activation of MAPK activity;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007254;JNK cascade;TAS|GO:0007507;heart development;IMP|GO:0010507;negative regulation of autophagy;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070530;K63-linked polyubiquitin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TAB2	https://www.uniprot.org/uniprot/Q9NYJ8	https://hpo.jax.org/app/browse/search?q=TAB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605101	http://www.informatics.jax.org/searchtool/Search.do?query=TAB2&submit=Quick%0D%994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAB2	rs72997892	0.0357428	0	0	1	0	0	intronic	intronic	intronic	TAB2	TAB2	ENSG00000055208	Na	Na	Na	Na	Na	Na	Het;T>C	118;6|6	Hom;T>C	341;0|12
N	N	-	6	149691355	149691355	T	G	snp	intronic	 	 	 	 	TAB2	Tab2	ENSG00000055208	TGF-beta activated kinase 1/MAP3K7 binding protein 2	chr6:149539777-149732749	The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	hemostatic factors and hematological phenotypes; Graves' disease; rheumatoid arthritis; Myocardial Infarction; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response	Embryos homozygous for a knock-out allele are viable up to E9.5. Embryos homozygous for a different knock-out allele are normal and viable up to E11.5 but become pale and anemic, exhibit liver hemorrhage and increased apoptosis of hepatoblasts, and die by E12.5.	IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation	GO:0000187;activation of MAPK activity;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007254;JNK cascade;TAS|GO:0007507;heart development;IMP|GO:0010507;negative regulation of autophagy;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070530;K63-linked polyubiquitin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TAB2	https://www.uniprot.org/uniprot/Q9NYJ8	https://hpo.jax.org/app/browse/search?q=TAB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605101	http://www.informatics.jax.org/searchtool/Search.do?query=TAB2&submit=Quick%0D%994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAB2	rs6570963	0.365216	0	0	1	0	0	intronic	intronic	intronic	TAB2	TAB2	ENSG00000055208	Na	Na	Na	Na	Na	Na	Het;T>G	68;10|5	Hom;T>G	97;0|3
N	N	-	6	150500190	150500190	A	G	snp	intronic	 	 	 	 	PPP1R14C	Ppp1r14c	ENSG00000198729	protein phosphatase 1 regulatory inhibitor subunit 14C	chr6:150464212-150571493	The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]	Body Height; Multiple System Atrophy; Mucocutaneous Lymph Node Syndrome; Respiratory Function Tests	Mice homozygous for a knock-out allele exhibit some prenatal lethality and enhanced behavioral response to morphine.		GO:0042325;regulation of phosphorylation;IEA|GO:0043086;negative regulation of catalytic activity;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0004865;protein serine/threonine phosphatase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R14C			https://www.ncbi.nlm.nih.gov/omim/?term=613242	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R14C&submit=Quick%0D%16979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R14C	rs9384220	0.411741	0	0	1	0	0	intronic	intronic	intronic	PPP1R14C	PPP1R14C	ENSG00000198729	Na	Na	Na	Na	Na	Na	Het;A>G	391;15|19	Hom;A>G	1443;0|50
N	N	-	6	150775847	150775847	T	C	snp	intergenic	 	 	 	 	IYD	Iyd	ENSG00000009765	iodotyrosine deiodinase	chr6:150690028-150727105	This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	Stroke; Panic Disorder	 	Thyroxine biosynthesis	GO:0006570;tyrosine metabolic process;IDA|GO:0006590;thyroid hormone generation;TAS|GO:0042403;thyroid hormone metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0004447;iodide peroxidase activity;IEA|GO:0005515;protein binding;IPI|GO:0010181;FMN binding;IDA|GO:0016491;oxidoreductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IYD	https://www.uniprot.org/uniprot/Q6PHW0	https://hpo.jax.org/app/browse/search?q=IYD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612025	http://www.informatics.jax.org/searchtool/Search.do?query=IYD&submit=Quick%0D%500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IYD	rs4346859	0.376198	0	0	1	0	0	intergenic	intergenic	intergenic	IYD(dist=50082),PLEKHG1(dist=145152)	IYD(dist=50082),PLEKHG1(dist=145152)	ENSG00000009765(dist=48742),ENSG00000219622(dist=50100)	Na	Na	Na	Na	Na	Na	Het;T>C	120;7|7	Hom;T>C	193;0|7
N	N	-	6	15085434	15085435	CA	C	indel	ncRNA_intronic	 	 	 	 	AL138720.1																		rs11356080	0.879792	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01108(dist=799749),JARID2(dist=160771)	CD83(dist=948286),JARID2(dist=160299)	ENSG00000234261	Na	Na	Na	Na	Na	Na	Het;-A	213;2|14	Hom;-A	377;1|20
N	N	-	6	151125724	151125724	C	A	snp	intronic	 	 	 	 	PLEKHG1	Plekhg1	ENSG00000120278	pleckstrin homology and RhoGEF domain containing G1	chr6:150920999-151164799		Metabolism; Osteoporosis; Triglycerides; Alcoholism; Tobacco Use Disorder; Cholesterol, HDL; panic disorder; Coronary Artery Disease	 		GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG1	https://www.uniprot.org/uniprot/Q9ULL1			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG1&submit=Quick%0D%5187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG1	rs803432	0.386581	0	0.2714	1	0	0	intronic	intronic	intronic	PLEKHG1	PLEKHG1	ENSG00000120278	Na	Na	Na	Na	Na	Na	Het;C>A	375;21|20	Hom;C>A	993;2|41
N	N	-	6	1514114	1514114	T	C	snp	ncRNA_exonic	 	 	 	 	AL512329.1																		rs9378297	0.349241	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	FOXF2(dist=118282),FOXCUT(dist=91652)	BC087858	ENSG00000218027	Na	Na	Na	Na	Na	Na	Het;T>C	343;12|15	Hom;T>C	1020;0|34
N	N	-	6	1514367	1514367	A	G	snp	ncRNA_exonic	 	 	 	 	AL512329.1																		rs7761242	0.84385	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	FOXF2(dist=118535),FOXCUT(dist=91399)	BC087858	ENSG00000218027	Na	Na	Na	Na	Na	Na	Het;A>G	438;28|22	Hom;A>G	1287;0|44
N	N	-	6	151594293	151594293	C	T	snp	intronic	 	 	 	 	AKAP12	Akap12	ENSG00000131016	A-kinase anchoring protein 12	chr6:151561134-151679692	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Waist-Hip Ratio; Kidney Diseases; Abdominal Fat; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function.		GO:0006605;protein targeting;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010739;positive regulation of protein kinase A signaling;IMP|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IPI|GO:0051018;protein kinase A binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AKAP12	https://www.uniprot.org/uniprot/Q02952		https://www.ncbi.nlm.nih.gov/omim/?term=604698	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP12&submit=Quick%0D%6476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP12	rs2786749	0.66234	0	0	1	0	0	intronic	intronic	intronic	AKAP12	AKAP12	ENSG00000131016	Na	Na	Na	Na	Na	Na	Het;C>T	755;55|41	Hom;C>T	1803;0|67
N	N	-	6	151594564	151594564	A	G	snp	intronic	 	 	 	 	AKAP12	Akap12	ENSG00000131016	A-kinase anchoring protein 12	chr6:151561134-151679692	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Waist-Hip Ratio; Kidney Diseases; Abdominal Fat; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function.		GO:0006605;protein targeting;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010739;positive regulation of protein kinase A signaling;IMP|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0090036;regulation of protein kinase C signaling;IEA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IPI|GO:0051018;protein kinase A binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AKAP12	https://www.uniprot.org/uniprot/Q02952		https://www.ncbi.nlm.nih.gov/omim/?term=604698	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP12&submit=Quick%0D%6476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP12	rs2257102	0.663938	0	0	1	0	0	intronic	intronic	intronic	AKAP12	AKAP12	ENSG00000131016	Na	Na	Na	Na	Na	Na	Het;A>G	108;7|4	Hom;A>G	177;0|5
N	N	-	6	151742541	151742541	T	C	snp	intronic	 	 	 	 	RMND1	Rmnd1	ENSG00000155906	required for meiotic nuclear division 1 homolog	chr6:151725989-151773259	The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]	Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006412;translation;IEA|GO:0070131;positive regulation of mitochondrial translation;IDA	GO:0005739;mitochondrion;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RMND1	https://www.uniprot.org/uniprot/Q9NWS8	https://hpo.jax.org/app/browse/search?q=RMND1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614917	http://www.informatics.jax.org/searchtool/Search.do?query=RMND1&submit=Quick%0D%9915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RMND1	rs4870017	0.98722	0	0	1	0	0	intronic	intronic	intronic	RMND1	RMND1	ENSG00000155906	Na	Na	Na	Na	Na	Na	Het;T>C	237;8|9	Hom;T>C	628;0|20
N	N	-	6	151857370	151857370	T	C	snp	intronic	 	 	 	 	CCDC170	Ccdc170	ENSG00000120262	coiled-coil domain containing 170	chr6:151815165-151942328	The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]	Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine)	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC170	https://www.uniprot.org/uniprot/Q8IYT3			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170	rs1532401	0.58766	0	0	1	0	0	intronic	intronic	intronic	CCDC170	CCDC170	ENSG00000120262	Na	Na	Na	Na	Na	Na	Het;T>C	328;11|14	Hom;T>C	841;0|26
N	N	-	6	151859314	151859314	A	G	snp	synonymous SNV	A321G	E107E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CCDC170	Ccdc170	ENSG00000120262	coiled-coil domain containing 170	chr6:151815165-151942328	The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]	Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine)	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC170	https://www.uniprot.org/uniprot/Q8IYT3			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170	rs4870034	0.60024	0.5875	0.6865	1	0	0	exonic	exonic	exonic	CCDC170	CCDC170	ENSG00000120262	synonymous SNV	synonymous SNV	unknown	CCDC170:NM_025059:exon3:c.A321G:p.E107E,	CCDC170:uc003qol.3:exon3:c.A321G:p.E107E,	UNKNOWN	Het;A>G	1051;22|48	Hom;A>G	914;2|36
N	N	-	6	151869725	151869725	A	AT	indel	intronic	 	 	 	 	CCDC170	Ccdc170	ENSG00000120262	coiled-coil domain containing 170	chr6:151815165-151942328	The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]	Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine)	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC170	https://www.uniprot.org/uniprot/Q8IYT3			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170	rs3842129	0.598243	0	0	1	0	0	intronic	intronic	intronic	CCDC170	CCDC170	ENSG00000120262	Na	Na	Na	Na	Na	Na	Het;+T	55;3|4	Hom;+T	646;0|23
N	N	-	6	151894278	151894278	G	T	snp	intronic	 	 	 	 	CCDC170	Ccdc170	ENSG00000120262	coiled-coil domain containing 170	chr6:151815165-151942328	The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]	Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine)	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC170	https://www.uniprot.org/uniprot/Q8IYT3			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170	rs4242277	0.940695	0.9103	0.9059	1	0	0	intronic	intronic	intronic	CCDC170	CCDC170	ENSG00000120262	Na	Na	Na	Na	Na	Na	Het;G>T	116;2|6	Hom;G>T	225;0|8
N	N	-	6	151894505	151894505	T	C	snp	nonsynonymous SNV	T971C	F324S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	CCDC170	Ccdc170	ENSG00000120262	coiled-coil domain containing 170	chr6:151815165-151942328	The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]	Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine)	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC170	https://www.uniprot.org/uniprot/Q8IYT3			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170	rs953767	0.941693	0.9137	0.9073	0.08	1	13	exonic	exonic	exonic	CCDC170	CCDC170	ENSG00000120262	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC170:NM_025059:exon6:c.T971C:p.F324S,	CCDC170:uc003qol.3:exon6:c.T971C:p.F324S,	UNKNOWN	Het;T>C	1457;74|64	Hom;T>C	3160;0|109
N	N	-	6	151939181	151939181	G	A	snp	nonsynonymous SNV	G2047A	V683I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCDC170	Ccdc170	ENSG00000120262	coiled-coil domain containing 170	chr6:151815165-151942328	The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]	Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine)	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC170	https://www.uniprot.org/uniprot/Q8IYT3			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170	rs3734804	0.53155	0.6061	0.4982	0.15	2	13	exonic	exonic	exonic	CCDC170	CCDC170	ENSG00000120262	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC170:NM_025059:exon11:c.G2047A:p.V683I,	CCDC170:uc003qol.3:exon11:c.G2047A:p.V683I,	UNKNOWN	Het;G>A	662;55|35	Hom;G>A	2159;0|79
N	N	-	6	152522812	152522812	T	G	snp	ncRNA_intronic	 	 	 	 	MIR3163																		rs2673776	0.628594	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR3163	SYNE1	ENSG00000131018	Na	Na	Na	Na	Na	Na	Het;T>G	63;4|3	Hom;T>G	168;0|5
N	N	-	6	152522926	152522926	G	A	snp	ncRNA_intronic	 	 	 	 	MIR3163																		rs2253512	0.134585	0.1396	0.1496	1	0	0	ncRNA_intronic	intronic	intronic	MIR3163	SYNE1	ENSG00000131018	Na	Na	Na	Na	Na	Na	Het;G>A	289;40|18	Hom;G>A	1857;0|68
N	N	-	6	152523143	152523143	G	A	snp	ncRNA_intronic	 	 	 	 	MIR3163																		rs2635441	0.645567	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR3163	SYNE1	ENSG00000131018	Na	Na	Na	Na	Na	Na	Het;G>A	79;9|6	Hom;G>A	283;0|11
N	N	-	6	152629815	152629815	C	T	snp	intronic	 	 	 	 	SYNE1	Syne1	ENSG00000131018	spectrin repeat containing nuclear envelope protein 1	chr6:152442819-152958936	This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Forced Vital Capacity; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus, Type 2; Triglycerides; Echocardiography; Alcohol dependence ; Erythrocyte Indices; Bipolar Disorder; Blood Pressure; tonometry; ovarian cancer ; Body Height; Carcinoma, Squamous Cell|Esophageal Neoplasms; Lipoprotein(a); Fibrinogen	Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.	Meiotic synapsis	GO:0006997;nucleus organization;NAS|GO:0007030;Golgi organization;IDA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IDA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA	GO:0000932;P-body;IDA|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005640;nuclear outer membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030017;sarcomere;IDA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0045211;postsynaptic membrane;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IPI|GO:0019899;enzyme binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0051015;actin filament binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SYNE1	https://www.uniprot.org/uniprot/Q8NF91	https://hpo.jax.org/app/browse/search?q=SYNE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608441	http://www.informatics.jax.org/searchtool/Search.do?query=SYNE1&submit=Quick%0D%6477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNE1	rs4112833	0.884784	0.8344	0.8398	1	0	0	intronic	intronic	intronic	SYNE1	SYNE1	ENSG00000131018	Na	Na	Na	Na	Na	Na	Het;C>T	144;6|7	Hom;C>T	386;0|13
N	N	-	6	152702821	152702821	G	A	snp	ncRNA_exonic	 	 	 	 	SYNE1-AS1																		rs214959	0.684505	0	0	1	0	0	ncRNA_exonic	intronic	intronic	SYNE1-AS1	SYNE1	ENSG00000131018	Na	Na	Na	Na	Na	Na	Het;G>A	1212;37|53	Hom;G>A	2591;0|96
N	N	-	6	152793412	152793412	C	A	snp	intronic	 	 	 	 	SYNE1	Syne1	ENSG00000131018	spectrin repeat containing nuclear envelope protein 1	chr6:152442819-152958936	This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Forced Vital Capacity; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus, Type 2; Triglycerides; Echocardiography; Alcohol dependence ; Erythrocyte Indices; Bipolar Disorder; Blood Pressure; tonometry; ovarian cancer ; Body Height; Carcinoma, Squamous Cell|Esophageal Neoplasms; Lipoprotein(a); Fibrinogen	Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.	Meiotic synapsis	GO:0006997;nucleus organization;NAS|GO:0007030;Golgi organization;IDA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IDA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA	GO:0000932;P-body;IDA|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005640;nuclear outer membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030017;sarcomere;IDA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0045211;postsynaptic membrane;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IPI|GO:0019899;enzyme binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0051015;actin filament binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SYNE1	https://www.uniprot.org/uniprot/Q8NF91	https://hpo.jax.org/app/browse/search?q=SYNE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608441	http://www.informatics.jax.org/searchtool/Search.do?query=SYNE1&submit=Quick%0D%6477ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNE1	rs4523096	0.855232	0.7830	0.7657	1	0	0	intronic	intronic	intronic	SYNE1	SYNE1	ENSG00000131018	Na	Na	Na	Na	Na	Na	Het;C>A	1188;62|59	Hom;C>A	3201;0|120
N	N	-	6	153365100	153365100	A	C	snp	synonymous SNV	T54G	A18A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RGS17	Rgs17	ENSG00000091844	regulator of G protein signaling 17	chr6:153325594-153452384	This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]	chronic obstructive pulmonary disease; Blood Pressure; lung cancer; esophageal adenocarcinoma; Heart Failure; Tobacco Use Disorder; bladder cancer; Lipoprotein(a); lung cancer ; Adiponectin	 	G alpha (z) signalling events	GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IBA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA	GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS17	https://www.uniprot.org/uniprot/Q9UGC6		https://www.ncbi.nlm.nih.gov/omim/?term=607191	http://www.informatics.jax.org/searchtool/Search.do?query=RGS17&submit=Quick%0D%2165ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS17	rs2295230	0.498203	0.3833	0.3849	1	0	0	exonic	exonic	exonic	RGS17	RGS17	ENSG00000091844	synonymous SNV	synonymous SNV	unknown	RGS17:NM_012419:exon2:c.T54G:p.A18A,	RGS17:uc003qpm.3:exon2:c.T54G:p.A18A,	UNKNOWN	Het;A>C	536;16|23	Hom;A>C	866;0|32
N	N	-	6	154091023	154091023	T	C	snp	intergenic	 	 	 	 	RNU6-896P																		rs4624880	0.129792	0	0	1	0	0	intergenic	intergenic	intergenic	MIR7641-2(dist=349362),OPRM1(dist=240608)	RGS17(dist=638634),OPRM1(dist=240608)	ENSG00000199246(dist=88335),ENSG00000217085(dist=168545)	Na	Na	Na	Na	Na	Na	Het;T>C	49;2|3	Hom;T>C	304;0|12
N	N	-	6	15468722	15468729	AGGGTGAG	A	indel	intronic	 	 	 	 	JARID2	Jarid2	ENSG00000008083	jumonji and AT-rich interaction domain containing 2	chr6:15246527-15522252	This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]	Behcet Syndrome; multiple sclerosis (severity); Neuroblastoma; schizophrenia	Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects.	PRC2 methylates histones and DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001889;liver development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010614;negative regulation of cardiac muscle hypertrophy;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA|GO:0031061;negative regulation of histone methylation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048863;stem cell differentiation;IEA|GO:0051574;positive regulation of histone H3-K9 methylation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0035097;histone methyltransferase complex;IEA|GO:0035098;ESC/E(Z) complex;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0008134;transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JARID2	https://www.uniprot.org/uniprot/Q92833		https://www.ncbi.nlm.nih.gov/omim/?term=601594	http://www.informatics.jax.org/searchtool/Search.do?query=JARID2&submit=Quick%0D%462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JARID2	rs139217003	0.435703	0.3805	0.3898	1	0	0	intronic	intronic	intronic	JARID2	JARID2	ENSG00000008083	Na	Na	Na	Na	Na	Na	Het;-GGGTGAG	560;11|15	Hom;-GGGTGAG	757;0|18
N	N	-	6	15497422	15497422	A	G	snp	intronic	 	 	 	 	JARID2	Jarid2	ENSG00000008083	jumonji and AT-rich interaction domain containing 2	chr6:15246527-15522252	This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]	Behcet Syndrome; multiple sclerosis (severity); Neuroblastoma; schizophrenia	Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects.	PRC2 methylates histones and DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001889;liver development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010614;negative regulation of cardiac muscle hypertrophy;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA|GO:0031061;negative regulation of histone methylation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048863;stem cell differentiation;IEA|GO:0051574;positive regulation of histone H3-K9 methylation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0035097;histone methyltransferase complex;IEA|GO:0035098;ESC/E(Z) complex;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0008134;transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JARID2	https://www.uniprot.org/uniprot/Q92833		https://www.ncbi.nlm.nih.gov/omim/?term=601594	http://www.informatics.jax.org/searchtool/Search.do?query=JARID2&submit=Quick%0D%462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JARID2	rs9349979	0.442093	0.3011	0.4596	1	0	0	intronic	intronic	intronic	JARID2	JARID2	ENSG00000008083	Na	Na	Na	Na	Na	Na	Het;A>G	1195;49|54	Hom;A>G	2988;0|98
N	N	-	6	15513744	15513744	G	T	snp	intronic	 	 	 	 	JARID2	Jarid2	ENSG00000008083	jumonji and AT-rich interaction domain containing 2	chr6:15246527-15522252	This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]	Behcet Syndrome; multiple sclerosis (severity); Neuroblastoma; schizophrenia	Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects.	PRC2 methylates histones and DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001889;liver development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010614;negative regulation of cardiac muscle hypertrophy;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA|GO:0031061;negative regulation of histone methylation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048863;stem cell differentiation;IEA|GO:0051574;positive regulation of histone H3-K9 methylation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0035097;histone methyltransferase complex;IEA|GO:0035098;ESC/E(Z) complex;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0008134;transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JARID2	https://www.uniprot.org/uniprot/Q92833		https://www.ncbi.nlm.nih.gov/omim/?term=601594	http://www.informatics.jax.org/searchtool/Search.do?query=JARID2&submit=Quick%0D%462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JARID2	rs9396589	0.269569	0	0	1	0	0	intronic	intronic	intronic	JARID2	JARID2	ENSG00000008083	Na	Na	Na	Na	Na	Na	Het;G>T	417;6|16	Hom;G>T	709;0|23
N	N	-	6	15517659	15517659	C	A	snp	intronic	 	 	 	 	JARID2	Jarid2	ENSG00000008083	jumonji and AT-rich interaction domain containing 2	chr6:15246527-15522252	This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]	Behcet Syndrome; multiple sclerosis (severity); Neuroblastoma; schizophrenia	Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects.	PRC2 methylates histones and DNA	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001889;liver development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010614;negative regulation of cardiac muscle hypertrophy;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA|GO:0031061;negative regulation of histone methylation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048863;stem cell differentiation;IEA|GO:0051574;positive regulation of histone H3-K9 methylation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0035097;histone methyltransferase complex;IEA|GO:0035098;ESC/E(Z) complex;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0008134;transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JARID2	https://www.uniprot.org/uniprot/Q92833		https://www.ncbi.nlm.nih.gov/omim/?term=601594	http://www.informatics.jax.org/searchtool/Search.do?query=JARID2&submit=Quick%0D%462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JARID2	rs2072822	0.267173	0	0	1	0	0	intronic	intronic	intronic	JARID2	JARID2	ENSG00000008083	Na	Na	Na	Na	Na	Na	Het;C>A	92;1|4	Hom;C>A	323;0|11
N	N	-	6	156247138	156247138	C	T	snp	intergenic	 	 	 	 	RNU7-152P																		rs4428513	0.763578	0	0	1	0	0	intergenic	intergenic	intergenic	NOX3(dist=470101),MIR1202(dist=20793)	NOX3(dist=470101),TRNA_Pseudo(dist=621908)	ENSG00000238789(dist=270978),ENSG00000221456(dist=20793)	Na	Na	Na	Na	Na	Na	Het;C>T	1038;61|55	Hom;C>T	2457;0|94
N	N	-	6	156299303	156299312	TTCCTCCTCC	T	indel	intergenic	 	 	 	 	MIR1202																		rs141427564	0.6875	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1202(dist=31290),ARID1B(dist=799752)	NOX3(dist=522266),TRNA_Pseudo(dist=569734)	ENSG00000221456(dist=31290),ENSG00000212295(dist=400572)	Na	Na	Na	Na	Na	Na	Het;-TCCTCCTCC	86;1|3	Hom;-TCCTCCTCC	54;0|2
N	N	-	6	156946895	156946895	G	A	snp	intergenic	 	 	 	 	AL512658.1																		rs9397955	0.494409	0	0	1	0	0	intergenic	intergenic	intergenic	MIR1202(dist=678882),ARID1B(dist=152169)	TRNA_Pseudo(dist=77775),ARID1B(dist=152169)	ENSG00000227360(dist=125990),ENSG00000220347(dist=36289)	Na	Na	Na	Na	Na	Na	Het;G>A	311;17|14	Hom;G>A	616;0|23
N	N	-	6	157234984	157234984	A	T	snp	intronic	 	 	 	 	ARID1B	Arid1b	ENSG00000049618	AT-rich interaction domain 1B	chr6:157099063-157531913	This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012]	Tobacco Use Disorder; Magnesium; Metabolism; Bone Density; Uric Acid; Lipoprotein(a); Cell Adhesion Molecules; Lipoproteins	Mice homozygous for a null allele die perinatally. Heterozygous null mice exhibit increased self-grooming, altered vocalization and response to social novelty, anxiety-like behavior, neuroanatomical anomalies, decreased plasma IGF1 levels, muscle weakness, and growth impairment.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007270;neuron-neuron synaptic transmission;IEA|GO:0007399;nervous system development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0048096;chromatin-mediated maintenance of transcription;NAS|GO:0060996;dendritic spine development;IEA|GO:0097026;dendritic cell dendrite assembly;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0071565;nBAF complex;IEA|GO:0090544;BAF-type complex;IEA	GO:0003677;DNA binding;IDA|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARID1B	https://www.uniprot.org/uniprot/Q8NFD5	https://hpo.jax.org/app/browse/search?q=ARID1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614556	http://www.informatics.jax.org/searchtool/Search.do?query=ARID1B&submit=Quick%0D%913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARID1B	rs287932	0.144968	0	0	1	0	0	intronic	intronic	intronic	ARID1B	ARID1B	ENSG00000049618	Na	Na	Na	Na	Na	Na	Het;A>T	84;1|4	Hom;A>T	184;0|7
N	N	-	6	158475941	158475941	T	C	snp	intronic	 	 	 	 	SYNJ2	Synj2	ENSG00000078269	synaptojanin 2	chr6:158402888-158520208	The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]	Tunica Media; Heart Failure	Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed.	Clathrin-mediated endocytosis	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004439;phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0034596;phosphatidylinositol phosphate 4-phosphatase activity;TAS|GO:0042578;phosphoric ester hydrolase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SYNJ2	https://www.uniprot.org/uniprot/O15056		https://www.ncbi.nlm.nih.gov/omim/?term=609410	http://www.informatics.jax.org/searchtool/Search.do?query=SYNJ2&submit=Quick%0D%1655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNJ2	rs2296510	0.523562	0.4788	0	1	0	0	intronic	intronic	intronic	SYNJ2	SYNJ2	ENSG00000078269	Na	Na	Na	Na	Na	Na	Het;T>C	53;20|4	Hom;T>C	781;0|26
N	N	-	6	159515206	159515206	C	G	snp	intergenic	 	 	 	 	AL035530.1																		rs642135	0.875599	0	0	1	0	0	intergenic	intergenic	intergenic	TAGAP(dist=49022),LOC101929122(dist=71725)	TAGAP(dist=49022),FNDC1(dist=75223)	ENSG00000226032(dist=28901),ENSG00000224478(dist=13617)	Na	Na	Na	Na	Na	Na	Het;C>G	357;21|17	Hom;C>G	886;0|35
N	N	-	6	159652931	159652931	G	C	snp	nonsynonymous SNV	G1387C	E463Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs420137	0.784545	0.8530	0.8634	0.15	2	13	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	nonsynonymous SNV	nonsynonymous SNV	unknown	FNDC1:NM_032532:exon11:c.G1387C:p.E463Q,	FNDC1:uc010kjw.1:exon9:c.G1042C:p.E348Q,FNDC1:uc010kjv.3:exon11:c.G1387C:p.E463Q,	UNKNOWN	Het;G>C	1043;45|47	Hom;G>C	2093;0|76
N	N	-	6	159653635	159653635	C	G	snp	synonymous SNV	C1746G	A582A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs381639	0.493411	0.6415	0.6653	1	0	0	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	synonymous SNV	synonymous SNV	unknown	FNDC1:NM_032532:exon11:c.C2091G:p.A697A,	FNDC1:uc010kjw.1:exon9:c.C1746G:p.A582A,FNDC1:uc010kjv.3:exon11:c.C2091G:p.A697A,	UNKNOWN	Het;C>G	879;76|46	Hom;C>G	4143;2|145
N	N	-	6	159654487	159654487	G	T	snp	synonymous SNV	G2598T	P866P	hydrophobic,neutral	hydrophobic,neutral	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs404435	0.786542	0.8496	0.8665	1	0	0	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	synonymous SNV	synonymous SNV	unknown	FNDC1:NM_032532:exon11:c.G2943T:p.P981P,	FNDC1:uc010kjw.1:exon9:c.G2598T:p.P866P,FNDC1:uc010kjv.3:exon11:c.G2943T:p.P981P,	UNKNOWN	Het;G>T	2623;117|123	Hom;G>T	7072;2|258
N	N	-	6	159654551	159654551	C	G	snp	nonsynonymous SNV	C3007G	Q1003E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs370434	0.785743	0.8522	0.8667	0.15	2	13	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	nonsynonymous SNV	nonsynonymous SNV	unknown	FNDC1:NM_032532:exon11:c.C3007G:p.Q1003E,	FNDC1:uc010kjw.1:exon9:c.C2662G:p.Q888E,FNDC1:uc010kjv.3:exon11:c.C3007G:p.Q1003E,	UNKNOWN	Het;C>G	2637;83|110	Hom;C>G	5661;0|189
N	N	-	6	159654994	159654994	A	C	snp	synonymous SNV	A3105C	V1035V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs402388	0.786342	0.8526	0.8420	1	0	0	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	synonymous SNV	synonymous SNV	unknown	FNDC1:NM_032532:exon11:c.A3450C:p.V1150V,	FNDC1:uc010kjw.1:exon9:c.A3105C:p.V1035V,FNDC1:uc010kjv.3:exon11:c.A3450C:p.V1150V,	UNKNOWN	Het;A>C	158;8|9	Hom;A>C	852;0|29
N	N	-	6	159655084	159655084	C	G	snp	nonsynonymous SNV	C3540G	D1180E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs420054	0.782348	0.8533	0.8367	0.08	1	13	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	nonsynonymous SNV	nonsynonymous SNV	unknown	FNDC1:NM_032532:exon11:c.C3540G:p.D1180E,	FNDC1:uc010kjw.1:exon9:c.C3195G:p.D1065E,FNDC1:uc010kjv.3:exon11:c.C3540G:p.D1180E,	UNKNOWN	Het;C>G	178;22|9	Hom;C>G	1235;0|44
N	N	-	6	159655102	159655102	A	G	snp	synonymous SNV	A3213G	G1071G	aliphatic,neutral	aliphatic,neutral	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs436743	0.786142	0.8540	0.8638	1	0	0	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	synonymous SNV	synonymous SNV	unknown	FNDC1:NM_032532:exon11:c.A3558G:p.G1186G,	FNDC1:uc010kjw.1:exon9:c.A3213G:p.G1071G,FNDC1:uc010kjv.3:exon11:c.A3558G:p.G1186G,	UNKNOWN	Het;A>G	340;25|14	Hom;A>G	1426;0|52
N	N	-	6	159655326	159655326	T	C	snp	nonsynonymous SNV	T3782C	L1261P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs3003174	0.786142	0.8503	0.8680	0.15	2	13	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	nonsynonymous SNV	nonsynonymous SNV	unknown	FNDC1:NM_032532:exon11:c.T3782C:p.L1261P,	FNDC1:uc010kjw.1:exon9:c.T3437C:p.L1146P,FNDC1:uc010kjv.3:exon11:c.T3782C:p.L1261P,	UNKNOWN	Het;T>C	1235;65|60	Hom;T>C	2634;0|98
N	N	-	6	159655383	159655383	A	G	snp	nonsynonymous SNV	A3839G	Q1280R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs2501176	0.786142	0.8509	0.8680	0.08	1	13	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	nonsynonymous SNV	nonsynonymous SNV	unknown	FNDC1:NM_032532:exon11:c.A3839G:p.Q1280R,	FNDC1:uc010kjw.1:exon9:c.A3494G:p.Q1165R,FNDC1:uc010kjv.3:exon11:c.A3839G:p.Q1280R,	UNKNOWN	Het;A>G	3349;89|87	Hom;A>G	5620;1|131
N	N	-	6	159655402	159655402	A	G	snp	synonymous SNV	A3513G	P1171P	hydrophobic,neutral	hydrophobic,neutral	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs2932988	0.785942	0.8507	0.8673	1	0	0	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	synonymous SNV	synonymous SNV	unknown	FNDC1:NM_032532:exon11:c.A3858G:p.P1286P,	FNDC1:uc010kjw.1:exon9:c.A3513G:p.P1171P,FNDC1:uc010kjv.3:exon11:c.A3858G:p.P1286P,	UNKNOWN	Het;A>G	3569;96|102	Hom;A>G	6279;1|157
N	N	-	6	159655593	159655593	C	T	snp	intronic	 	 	 	 	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs2501177	0.786142	0	0	1	0	0	intronic	intronic	intronic	FNDC1	FNDC1	ENSG00000164694	Na	Na	Na	Na	Na	Na	Het;C>T	216;13|9	Hom;C>T	509;1|19
N	N	-	6	159657195	159657195	G	T	snp	intronic	 	 	 	 	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs420339	0.786142	0	0	1	0	0	intronic	intronic	intronic	FNDC1	FNDC1	ENSG00000164694	Na	Na	Na	Na	Na	Na	Het;G>T	204;26|11	Hom;G>T	1337;0|47
N	N	-	6	159659481	159659481	C	T	snp	intronic	 	 	 	 	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs419836	0.786142	0	0	1	0	0	intronic	intronic	intronic	FNDC1	FNDC1	ENSG00000164694	Na	Na	Na	Na	Na	Na	Het;C>T	237;24|11	Hom;C>T	897;0|27
N	N	-	6	159659523	159659523	A	G	snp	intronic	 	 	 	 	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs450538	0.786142	0	0	1	0	0	intronic	intronic	intronic	FNDC1	FNDC1	ENSG00000164694	Na	Na	Na	Na	Na	Na	Het;A>G	678;42|32	Hom;A>G	1908;0|63
N	N	-	6	159660779	159660797	GCCACCACCCGCCGCACGA	G	indel	nonframeshift substitution	4066_4084G	 	 	 	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs141435210	0.496406	0.8069	0.8594	1	0	0	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	nonframeshift substitution	nonframeshift substitution	unknown	FNDC1:NM_032532:exon14:c.4411_4429G,	FNDC1:uc010kjw.1:exon12:c.4066_4084G,FNDC1:uc010kjv.3:exon14:c.4411_4429G,	UNKNOWN	Het;-CCACCACCCGCCGCACGA	5289;156|141	Hom;-CCACCACCCGCCGCACGA	8788;0|204
N	N	-	6	159660879	159660879	C	A	snp	nonsynonymous SNV	C4511A	T1504K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	FNDC1		ENSG00000164694	fibronectin type III domain containing 1	chr6:159590429-159693141		Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a)				GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC1			https://www.ncbi.nlm.nih.gov/omim/?term=609991	http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1	rs386360	0.784944	0.8692	0.8672	0.15	2	13	exonic	exonic	exonic	FNDC1	FNDC1	ENSG00000164694	nonsynonymous SNV	nonsynonymous SNV	unknown	FNDC1:NM_032532:exon14:c.C4511A:p.T1504K,	FNDC1:uc010kjw.1:exon12:c.C4166A:p.T1389K,FNDC1:uc010kjv.3:exon14:c.C4511A:p.T1504K,	UNKNOWN	Het;C>A	2943;116|133	Hom;C>A	4986;0|197
N	N	-	6	159814473	159814473	A	G	snp	ncRNA_intronic	 	 	 	 	LOC102724053																		rs1339331	0.849241	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102724053	FNDC1(dist=121333),AK130765(dist=193514)	ENSG00000234777	Na	Na	Na	Na	Na	Na	Het;A>G	189;11|7	Hom;A>G	867;0|25
N	N	-	6	159817405	159817405	C	T	snp	ncRNA_exonic	 	 	 	 	LOC102724053																		rs2277089	0.55631	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724053	FNDC1(dist=124265),AK130765(dist=190582)	ENSG00000234777	Na	Na	Na	Na	Na	Na	Het;C>T	1070;69|53	Hom;C>T	3365;0|123
N	N	-	6	159817482	159817482	T	C	snp	downstream	 	 	 	 	AL357832.2																		rs3823037	0.586661	0	0	1	0	0	downstream	intergenic	downstream	LOC102724053	FNDC1(dist=124342),AK130765(dist=190505)	ENSG00000234777	Na	Na	Na	Na	Na	Na	Het;T>C	986;58|50	Hom;T>C	2599;2|102
N	N	-	6	160465486	160465490	TTGTC	T	indel	intronic	 	 	 	 	IGF2R	Igf2r	ENSG00000197081	insulin like growth factor 2 receptor	chr6:160390131-160534539	This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]	chronic obstructive pulmonary disease; birth weight fetal growth; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; Brain Neoplasms|; breast cancer|prostate cancer; Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms; epithelial ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; Lipoproteins; Bone Neoplasms|osteosarcoma; Leukemia, Lymphocytic, Chronic, B-Cell; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Kidney Failure, Chronic; bladder cancer; intrauterine growth; Lymphoma, Non-Hodgkin; esophageal adenocarcinoma; Celiac Disease|; Lipoprotein(a); Bone Mineral Density; breast cancer ; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; height; Multiple Sclerosis; lung cancer ; oral cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Breast Neoplasms|Mammary Neoplasms; Brain lesion load; diabetes, type 2; obesity; lung cancer; Birth Weight; Alzheimer's disease 	Mutants inheriting maternally a targeted disruption of this gene exhibit elevated serum and tissue IGF-II levels, overgrowth, organomegaly, kinky tail, polydactyly, heart defects, edema, dyspnea, imperforate vagina, reduced fertility and perinatal death.Survival is influenced by genetic background.	Clathrin-mediated endocytosis	GO:0001889;liver development;IEA|GO:0006810;transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007283;spermatogenesis;IEA|GO:0009791;post-embryonic development;IEA|GO:0031100;animal organ regeneration;IEA|GO:0032526;response to retinoic acid;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0048009;insulin-like growth factor receptor signaling pathway;IEA|GO:0061024;membrane organization;TAS	GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005641;nuclear envelope lumen;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IMP|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IMP|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030118;clathrin coat;IEA|GO:0030133;transport vesicle;TAS|GO:0030139;endocytic vesicle;IDA|GO:0030140;trans-Golgi network transport vesicle;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IDA|GO:0001965;G-protein alpha-subunit binding;IEA|GO:0001972;retinoic acid binding;IEA|GO:0004872;receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005010;insulin-like growth factor-activated receptor activity;TAS|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0005537;mannose binding;IEA|GO:0019899;enzyme binding;IEA|GO:0031995;insulin-like growth factor II binding;IEA|GO:0042802;identical protein binding;IPI|GO:0051219;phosphoprotein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IGF2R		https://hpo.jax.org/app/browse/search?q=IGF2R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147280	http://www.informatics.jax.org/searchtool/Search.do?query=IGF2R&submit=Quick%0D%16540ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF2R	rs367775956	0	0	0	1	0	0	intronic	intronic	intronic	IGF2R	IGF2R	ENSG00000197081	Na	Na	Na	Na	Na	Na	Het;-TGTC	356;9|10	Hom;-TGTC	237;0|7
N	N	-	6	160560845	160560845	A	G	snp	nonsynonymous SNV	A1222G	M408V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC22A1	Slc22a1	ENSG00000175003	solute carrier family 22 member 1	chr6:160542821-160579750	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]	Diabetes Mellitus; Metabolism; Prostatic Neoplasms; hypertension; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; alcohol dependence; metformin efficacy; Tobacco Use Disorder; Lipoproteins; Leukemia, Myeloid, Chronic-Phase; Diabetes Mellitus, Type 2; leukemia; Cholesterol; Hyperparathyroidism, Secondary; renal clearance of metformin; Chronic renal failure|Kidney Failure, Chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Cholestasis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; null; drug-related genes ; Drug Toxicity|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Cholesterol, LDL	Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects.	Organic cation transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006836;neurotransmitter transport;IBA|GO:0006855;drug transmembrane transport;TAS|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015695;organic cation transport;TAS|GO:0015697;quaternary ammonium group transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015844;monoamine transport;IEA|GO:0015872;dopamine transport;IEA|GO:0015874;norepinephrine transport;IEA|GO:0048241;epinephrine transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0072488;ammonium transmembrane transport;IEA|GO:1901374;acetate ester transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005277;acetylcholine transmembrane transporter activity;IEA|GO:0005329;dopamine transmembrane transporter activity;IEA|GO:0005333;norepinephrine transmembrane transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008504;monoamine transmembrane transporter activity;IEA|GO:0008513;secondary active organic cation transmembrane transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015101;organic cation transmembrane transporter activity;TAS|GO:0015651;quaternary ammonium group transmembrane transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A1			https://www.ncbi.nlm.nih.gov/omim/?term=602607	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A1&submit=Quick%0D%13620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A1	rs628031	0.6877	0.6376	0.6405	0.08	1	13	exonic	exonic	exonic	SLC22A1	SLC22A1	ENSG00000175003	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC22A1:NM_003057:exon7:c.A1222G:p.M408V,SLC22A1:NM_153187:exon7:c.A1222G:p.M408V,	SLC22A1:uc003qtd.3:exon7:c.A1222G:p.M408V,SLC22A1:uc003qtc.3:exon7:c.A1222G:p.M408V,	UNKNOWN	Het;A>G	1070;79|53	Hom;A>G	2836;0|103
N	N	-	6	160560897	160560905	CTGGTAAGT	C	indel	frameshift substitution	1274_1276C	 	 	 	SLC22A1	Slc22a1	ENSG00000175003	solute carrier family 22 member 1	chr6:160542821-160579750	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]	Diabetes Mellitus; Metabolism; Prostatic Neoplasms; hypertension; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; alcohol dependence; metformin efficacy; Tobacco Use Disorder; Lipoproteins; Leukemia, Myeloid, Chronic-Phase; Diabetes Mellitus, Type 2; leukemia; Cholesterol; Hyperparathyroidism, Secondary; renal clearance of metformin; Chronic renal failure|Kidney Failure, Chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Cholestasis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; null; drug-related genes ; Drug Toxicity|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Cholesterol, LDL	Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects.	Organic cation transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006836;neurotransmitter transport;IBA|GO:0006855;drug transmembrane transport;TAS|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015695;organic cation transport;TAS|GO:0015697;quaternary ammonium group transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015844;monoamine transport;IEA|GO:0015872;dopamine transport;IEA|GO:0015874;norepinephrine transport;IEA|GO:0048241;epinephrine transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0072488;ammonium transmembrane transport;IEA|GO:1901374;acetate ester transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005277;acetylcholine transmembrane transporter activity;IEA|GO:0005329;dopamine transmembrane transporter activity;IEA|GO:0005333;norepinephrine transmembrane transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008504;monoamine transmembrane transporter activity;IEA|GO:0008513;secondary active organic cation transmembrane transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015101;organic cation transmembrane transporter activity;TAS|GO:0015651;quaternary ammonium group transmembrane transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A1			https://www.ncbi.nlm.nih.gov/omim/?term=602607	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A1&submit=Quick%0D%13620ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A1	rs113569197	0.689497	0	0.6122	1	0	0	exonic	exonic	exonic	SLC22A1	SLC22A1	ENSG00000175003	frameshift substitution	frameshift substitution	unknown	SLC22A1:NM_003057:exon7:c.1274_1276C,SLC22A1:NM_153187:exon7:c.1274_1276C,	SLC22A1:uc003qtd.3:exon7:c.1274_1276C,SLC22A1:uc003qtc.3:exon7:c.1274_1276C,	UNKNOWN	Het;-TGGTAAGT	1391;56|38	Hom;-TGGTAAGT	2536;0|58
N	N	-	6	160977375	160977375	A	G	snp	intronic	 	 	 	 	LPA		ENSG00000198670	lipoprotein(a)	chr6:160952515-161087407	The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]	myocardial infarction; Carotid Artery Diseases; Lipoproteins; Coronary Artery Disease; Coronary Artery Disease|; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Myocardial Infarction; cholesterol; coronary heart disease; lipoproteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; normal variation; diabetes, type 2; Coronary Disease|Coronary heart disease; plasma Lp (a) levels; Type 2 Diabetes| edema | rosiglitazone; restenosis; Obesity; protein quantitative trait loci; Coronary Artery Disease|Dyslipidemias; Brain Ischemia|Hypertension|Osteoporosis|Stroke; lipoprotein; Coronary Disease|Myocardial Infarction; Amyotrophic Lateral Sclerosis|; null; aneurysm, intracranial; Coronary Disease; heart disease, ischemic; lipoprotein; Thromboembolism; Cardiovascular Diseases; Peripheral Vascular Diseases; Cholesterol, HDL; Recurrence|Venous Thromboembolism; myocardial infarct; Alzheimer's Disease; lipoprotein A-I; Asthma|Hypersensitivity; lipoproteins; atherosclerosis, coronary lipoprotein; Lipoprotein(a); coronary artery disease; plasma HDL cholesterol (HDL-C) levels; myocardial infarction | metabolic syndrome; oxidized phospholipids; Cholesterol, LDL	Animals homozyogous for a targeted mutation appear phenotypically normal.	LDL remodeling	GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;NAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008015;blood circulation;TAS|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0034374;low-density lipoprotein particle remodeling;TAS	GO:0005576;extracellular region;TAS|GO:0034358;plasma lipoprotein particle;IDA	GO:0001968;fibronectin binding;IPI|GO:0004252;serine-type endopeptidase activity;IDA|GO:0004866;endopeptidase inhibitor activity;TAS|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;NAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034185;apolipoprotein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LPA			https://www.ncbi.nlm.nih.gov/omim/?term=152200	http://www.informatics.jax.org/searchtool/Search.do?query=LPA&submit=Quick%0D%16954ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPA	rs9457938	0.938498	0	0	1	0	0	intronic	intronic	intronic	LPA	LPA	ENSG00000198670	Na	Na	Na	Na	Na	Na	Het;A>G	158;2|5	Hom;A>G	174;0|5
N	N	-	6	161284779	161284779	T	C	snp	intergenic	 	 	 	 	PLG	Plg	ENSG00000122194	plasminogen	chr6:161123270-161174347	The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]	lipoprotein A-I; Parkinson Disease; Hepatopulmonary Syndrome|Liver Cirrhosis; Type 2 Diabetes| edema | rosiglitazone; Endometriosis; Lipoprotein(a); Lipoproteins; Aspergillosis|Lung Diseases, Fungal; Body Height; Carotid Artery Diseases; Alzheimer's disease; thrombosis, deep vein; Premature Birth; vascular disease	Homozygous null mutants exhibit retarded growth, variable rectal prolapse, impaired fertility and lactation in females, early mortality, and widespread fibrin deposition and thrombotic lesions in liver, lung, stomach and other tissues.	Dissolution of Fibrin Clot	GO:0002576;platelet degranulation;TAS|GO:0006508;proteolysis;IDA|GO:0007596;blood coagulation;IMP|GO:0007599;hemostasis;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0042730;fibrinolysis;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048771;tissue remodeling;IEA|GO:0051702;interaction with symbiont;IDA|GO:0051918;negative regulation of fibrinolysis;IDA|GO:0051919;positive regulation of fibrinolysis;IDA|GO:0052182;modification by host of symbiont morphology or physiology via secreted substance;IDA|GO:0052213;interaction with symbiont via secreted substance involved in symbiotic interaction;IDA|GO:2000048;negative regulation of cell-cell adhesion mediated by cadherin;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031232;extrinsic component of external side of plasma membrane;IDA|GO:0044218;other organism cell membrane;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004175;endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0051087;chaperone binding;IPI|GO:1904854;proteasome core complex binding;IPI|GO:1990405;protein antigen binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLG	https://www.uniprot.org/uniprot/P00747	https://hpo.jax.org/app/browse/search?q=PLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=173350	http://www.informatics.jax.org/searchtool/Search.do?query=PLG&submit=Quick%0D%5392ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLG	rs1937487	0.777756	0	0	1	0	0	intergenic	intergenic	intergenic	PLG(dist=109694),MAP3K4(dist=127980)	PLG(dist=109694),MAP3K4(dist=128043)	ENSG00000122194(dist=110441),ENSG00000224371(dist=9141)	Na	Na	Na	Na	Na	Na	Het;T>C	243;2|11	Hom;T>C	141;0|5
N	N	-	6	162964436	162964436	C	A	snp	intronic	 	 	 	 	PARK2	Park2																	rs35136541	0.0976438	0	0	1	0	0	intronic	intronic	intronic	PARK2	PARK2	ENSG00000185345	Na	Na	Na	Na	Na	Na	Het;C>A	223;12|12	Hom;C>A	665;1|28
N	N	-	6	162964645	162964645	A	G	snp	intronic	 	 	 	 	PARK2	Park2																	rs2846466	0.329473	0	0	1	0	0	intronic	intronic	intronic	PARK2	PARK2	ENSG00000185345	Na	Na	Na	Na	Na	Na	Het;A>G	97;6|4	Hom;A>G	434;0|14
N	N	-	6	163647462	163647462	G	A	snp	intronic	 	 	 	 	PACRG	Pacrg	ENSG00000112530	parkin coregulated	chr6:163148164-163736524	This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Triglycerides; Hemoglobins; Lipoprotein(a); Waist-Hip Ratio; Tuberculosis; Hip; Waist Circumference; Parkinson's disease ; leprosy; Tobacco Use Disorder; male infertility; Parkinson's disease; Hematocrit	Along with altered levele of the Qki transcript, both Pacrg and Park2 are inactivated as a result of a 1.85 Mb deletion in the in the quaking mouse. The quaking mouse is a spontaneous dysmyelinating mutant that demonstrates abnormal locomotion, tremor, and tonic-clonic seizures.		GO:0007286;spermatid development;IEA|GO:0034620;cellular response to unfolded protein;TAS|GO:0060548;negative regulation of cell death;IMP	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IDA|GO:0043005;neuron projection;IDA|GO:0044297;cell body;IEA|GO:0097225;sperm midpiece;IEA	GO:0001664;G-protein coupled receptor binding;IPI|GO:0003779;actin binding;IDA|GO:0030544;Hsp70 protein binding;IDA|GO:0031072;heat shock protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0043014;alpha-tubulin binding;IDA|GO:0048487;beta-tubulin binding;IDA|GO:0051087;chaperone binding;IPI|GO:0051879;Hsp90 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PACRG	https://www.uniprot.org/uniprot/Q96M98		https://www.ncbi.nlm.nih.gov/omim/?term=608427	http://www.informatics.jax.org/searchtool/Search.do?query=PACRG&submit=Quick%0D%4255ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PACRG	rs4709685	0.785743	0	0	1	0	0	intronic	intronic	intronic	PACRG	PACRG	ENSG00000112530	Na	Na	Na	Na	Na	Na	Het;G>A	44;1|3	Hom;G>A	105;0|4
N	N	-	6	163663096	163663096	G	GA	indel	intronic	 	 	 	 	PACRG	Pacrg	ENSG00000112530	parkin coregulated	chr6:163148164-163736524	This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Triglycerides; Hemoglobins; Lipoprotein(a); Waist-Hip Ratio; Tuberculosis; Hip; Waist Circumference; Parkinson's disease ; leprosy; Tobacco Use Disorder; male infertility; Parkinson's disease; Hematocrit	Along with altered levele of the Qki transcript, both Pacrg and Park2 are inactivated as a result of a 1.85 Mb deletion in the in the quaking mouse. The quaking mouse is a spontaneous dysmyelinating mutant that demonstrates abnormal locomotion, tremor, and tonic-clonic seizures.		GO:0007286;spermatid development;IEA|GO:0034620;cellular response to unfolded protein;TAS|GO:0060548;negative regulation of cell death;IMP	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IDA|GO:0043005;neuron projection;IDA|GO:0044297;cell body;IEA|GO:0097225;sperm midpiece;IEA	GO:0001664;G-protein coupled receptor binding;IPI|GO:0003779;actin binding;IDA|GO:0030544;Hsp70 protein binding;IDA|GO:0031072;heat shock protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0043014;alpha-tubulin binding;IDA|GO:0048487;beta-tubulin binding;IDA|GO:0051087;chaperone binding;IPI|GO:0051879;Hsp90 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PACRG	https://www.uniprot.org/uniprot/Q96M98		https://www.ncbi.nlm.nih.gov/omim/?term=608427	http://www.informatics.jax.org/searchtool/Search.do?query=PACRG&submit=Quick%0D%4255ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PACRG	rs150725892	0.216454	0	0	1	0	0	intronic	intronic	intronic	PACRG	PACRG	ENSG00000112530	Na	Na	Na	Na	Na	Na	Het;+A	133;14|8	Hom;+A	990;0|35
N	N	-	6	163740089	163740089	A	G	snp	ncRNA_intronic	 	 	 	 	PACRG-AS1																		rs6927207	0.66853	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	PACRG-AS1	PACRG-AS1	ENSG00000112530(dist=3565),ENSG00000217514(dist=44153)	Na	Na	Na	Na	Na	Na	Het;A>G	121;4|6	Hom;A>G	410;0|12
N	N	-	6	163744361	163744361	A	G	snp	ncRNA_intronic	 	 	 	 	PACRG-AS1																		rs4555894	0.592851	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	PACRG-AS1	PACRG-AS1	ENSG00000112530(dist=7837),ENSG00000217514(dist=39881)	Na	Na	Na	Na	Na	Na	Het;A>G	429;22|20	Hom;A>G	779;0|29
N	N	-	6	163744711	163744712	AC	A	indel	ncRNA_exonic	 	 	 	 	PACRG-AS1																		rs11290473	0.591254	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	PACRG-AS1	PACRG-AS1	ENSG00000112530(dist=8187),ENSG00000217514(dist=39530)	Na	Na	Na	Na	Na	Na	Het;-C	2849;73|91	Hom;-C	4453;0|120
N	N	-	6	163744748	163744748	G	A	snp	ncRNA_exonic	 	 	 	 	PACRG-AS1																		rs4277989	0.58746	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	PACRG-AS1	PACRG-AS1	ENSG00000112530(dist=8224),ENSG00000217514(dist=39494)	Na	Na	Na	Na	Na	Na	Het;G>A	1702;74|80	Hom;G>A	3460;0|126
N	N	-	6	163745049	163745049	A	G	snp	ncRNA_exonic	 	 	 	 	PACRG-AS1																		rs7761309	0.598442	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	PACRG-AS1	PACRG-AS1	ENSG00000112530(dist=8525),ENSG00000217514(dist=39193)	Na	Na	Na	Na	Na	Na	Het;A>G	798;62|40	Hom;A>G	2264;0|80
N	N	-	6	163745411	163745411	T	C	snp	ncRNA_exonic	 	 	 	 	PACRG-AS1																		rs723985	0.606829	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	PACRG-AS1	PACRG-AS1	ENSG00000112530(dist=8887),ENSG00000217514(dist=38831)	Na	Na	Na	Na	Na	Na	Het;T>C	832;40|38	Hom;T>C	2474;0|69
N	N	-	6	165142523	165142523	G	A	snp	intergenic	 	 	 	 	AL358972.1																		rs9365761	0.380192	0	0	1	0	0	intergenic	intergenic	intergenic	QKI(dist=1142895),C6orf118(dist=550630)	AK093114(dist=946866),AK090788(dist=64341)	ENSG00000226739(dist=372846),ENSG00000227455(dist=98716)	Na	Na	Na	Na	Na	Na	Het;G>A	1428;70|72	Hom;G>A	3928;0|148
N	N	-	6	165569308	165569308	G	T	snp	intergenic	 	 	 	 	AL136100.1																		rs2675723	0.384784	0	0	1	0	0	intergenic	intergenic	intergenic	QKI(dist=1569680),C6orf118(dist=123845)	AK090788(dist=333766),C6orf118(dist=123845)	ENSG00000217878(dist=38295),ENSG00000112539(dist=123857)	Na	Na	Na	Na	Na	Na	Het;G>T	427;17|22	Hom;G>T	810;0|31
N	N	-	6	165806114	165806114	A	C	snp	intronic	 	 	 	 	PDE10A	Pde10a	ENSG00000112541	phosphodiesterase 10A	chr6:165740776-166400091	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]	Body Height; Echocardiography; Thyroid Diseases; Myocardial Infarction; Forced Expiratory Volume; Cholesterol, HDL; Lipids; Attention Deficit Disorder with Hyperactivity; Coronary Disease; Amyotrophic Lateral Sclerosis; Type 2 Diabetes| edema | rosiglitazone; Conduct Disorder; Triglycerides; obesity; Tobacco Use Disorder; Alcoholism; Bipolar Disorder; Vitiligo	Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. A hypomorphic allele results in increased social behavior. Mice homozygous for a knock-out allele exhibit resistance to diet-induced obesity.	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IEA|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0043949;regulation of cAMP-mediated signaling;IEA|GO:0046069;cGMP catabolic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;TAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;IDA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IDA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE10A	https://www.uniprot.org/uniprot/Q9Y233	https://hpo.jax.org/app/browse/search?q=PDE10A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610652	http://www.informatics.jax.org/searchtool/Search.do?query=PDE10A&submit=Quick%0D%4258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE10A	rs220794	0.217851	0.2823	0.2030	1	0	0	intronic	intronic	intronic	PDE10A	PDE10A	ENSG00000112541	Na	Na	Na	Na	Na	Na	Het;A>C	497;39|25	Hom;A>C	1302;0|48
N	N	-	6	165808605	165808605	T	C	snp	intronic	 	 	 	 	PDE10A	Pde10a	ENSG00000112541	phosphodiesterase 10A	chr6:165740776-166400091	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]	Body Height; Echocardiography; Thyroid Diseases; Myocardial Infarction; Forced Expiratory Volume; Cholesterol, HDL; Lipids; Attention Deficit Disorder with Hyperactivity; Coronary Disease; Amyotrophic Lateral Sclerosis; Type 2 Diabetes| edema | rosiglitazone; Conduct Disorder; Triglycerides; obesity; Tobacco Use Disorder; Alcoholism; Bipolar Disorder; Vitiligo	Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. A hypomorphic allele results in increased social behavior. Mice homozygous for a knock-out allele exhibit resistance to diet-induced obesity.	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IEA|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0043949;regulation of cAMP-mediated signaling;IEA|GO:0046069;cGMP catabolic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;TAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;IDA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IDA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE10A	https://www.uniprot.org/uniprot/Q9Y233	https://hpo.jax.org/app/browse/search?q=PDE10A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610652	http://www.informatics.jax.org/searchtool/Search.do?query=PDE10A&submit=Quick%0D%4258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE10A	rs220792	0.217252	0	0	1	0	0	intronic	intronic	intronic	PDE10A	PDE10A	ENSG00000112541	Na	Na	Na	Na	Na	Na	Het;T>C	326;11|13	Hom;T>C	925;0|30
N	N	-	6	165827194	165827194	A	G	snp	intronic	 	 	 	 	PDE10A	Pde10a	ENSG00000112541	phosphodiesterase 10A	chr6:165740776-166400091	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]	Body Height; Echocardiography; Thyroid Diseases; Myocardial Infarction; Forced Expiratory Volume; Cholesterol, HDL; Lipids; Attention Deficit Disorder with Hyperactivity; Coronary Disease; Amyotrophic Lateral Sclerosis; Type 2 Diabetes| edema | rosiglitazone; Conduct Disorder; Triglycerides; obesity; Tobacco Use Disorder; Alcoholism; Bipolar Disorder; Vitiligo	Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. A hypomorphic allele results in increased social behavior. Mice homozygous for a knock-out allele exhibit resistance to diet-induced obesity.	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IEA|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0043949;regulation of cAMP-mediated signaling;IEA|GO:0046069;cGMP catabolic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;TAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;IDA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IDA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE10A	https://www.uniprot.org/uniprot/Q9Y233	https://hpo.jax.org/app/browse/search?q=PDE10A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610652	http://www.informatics.jax.org/searchtool/Search.do?query=PDE10A&submit=Quick%0D%4258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE10A	rs220749	0.629193	0.7057	0.6376	1	0	0	intronic	intronic	intronic	PDE10A	PDE10A	ENSG00000112541	Na	Na	Na	Na	Na	Na	Het;A>G	424;29|20	Hom;A>G	1802;0|57
N	N	-	6	165832227	165832227	C	T	snp	synonymous SNV	G864A	A288A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDE10A	Pde10a	ENSG00000112541	phosphodiesterase 10A	chr6:165740776-166400091	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]	Body Height; Echocardiography; Thyroid Diseases; Myocardial Infarction; Forced Expiratory Volume; Cholesterol, HDL; Lipids; Attention Deficit Disorder with Hyperactivity; Coronary Disease; Amyotrophic Lateral Sclerosis; Type 2 Diabetes| edema | rosiglitazone; Conduct Disorder; Triglycerides; obesity; Tobacco Use Disorder; Alcoholism; Bipolar Disorder; Vitiligo	Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. A hypomorphic allele results in increased social behavior. Mice homozygous for a knock-out allele exhibit resistance to diet-induced obesity.	G alpha (s) signalling events	GO:0006198;cAMP catabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IEA|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0043949;regulation of cAMP-mediated signaling;IEA|GO:0046069;cGMP catabolic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;TAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;IDA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IDA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PDE10A	https://www.uniprot.org/uniprot/Q9Y233	https://hpo.jax.org/app/browse/search?q=PDE10A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610652	http://www.informatics.jax.org/searchtool/Search.do?query=PDE10A&submit=Quick%0D%4258ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE10A	rs220740	0.24401	0.3288	0.2564	1	0	0	exonic	exonic	exonic	PDE10A	PDE10A	ENSG00000112541	synonymous SNV	synonymous SNV	unknown	PDE10A:NM_001130690:exon11:c.G894A:p.A298A,	PDE10A:uc003qun.3:exon12:c.G864A:p.A288A,PDE10A:uc011egk.2:exon12:c.G654A:p.A218A,PDE10A:uc003quo.3:exon11:c.G894A:p.A298A,	UNKNOWN	Het;C>T	376;51|22	Hom;C>T	1910;0|67
N	N	-	6	166125619	166125619	T	C	snp	intergenic	 	 	 	 	NONE																		rs9459489	0.6248	0	0	1	0	0	intergenic	intergenic	intergenic	PDE10A(dist=50031),LINC00473(dist=211917)	PDE10A(dist=50031),AK090688(dist=68138)	NONE(dist=NONE),ENSG00000206681(dist=6104)	Na	Na	Na	Na	Na	Na	Het;T>C	334;30|17	Hom;T>C	1144;0|37
N	N	-	6	166144852	166144852	T	A	snp	intergenic	 	 	 	 	RNU6-730P																		rs3008006	0.615016	0	0	1	0	0	intergenic	intergenic	intergenic	PDE10A(dist=69264),LINC00473(dist=192684)	PDE10A(dist=69264),AK090688(dist=48905)	ENSG00000206681(dist=13026),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>A	86;3|5	Hom;T>A	110;0|5
N	N	-	6	166478458	166478458	G	A	snp	ncRNA_exonic	 	 	 	 	GAPDHP72																		rs1838605	0.423323	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC00602(dist=75355),T(dist=92688)	LINC00602(dist=75355),T(dist=92688)	ENSG00000216624	Na	Na	Na	Na	Na	Na	Het;G>A	290;20|16	Hom;G>A	1002;0|39
N	N	-	6	166921962	166921963	GC	G	indel	intronic	 	 	 	 	RPS6KA2	Rps6ka2	ENSG00000071242	ribosomal protein S6 kinase A2	chr6:166822852-167319939	This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]	Maximal Midexpiratory Flow Rate; Heart Failure; Platelet Count; Respiratory Function Tests; Colonic Neoplasms|Rectal Neoplasms; Tobacco Use Disorder; Diabetes Mellitus	Mice homozygous for a knock-out allele exhibit decreased response of heart to stress following transverse aortic constriction.	Gastrin-CREB signalling pathway via PKC and MAPK	GO:0001556;oocyte maturation;IEA|GO:0002035;brain renin-angiotensin system;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;NAS|GO:0007507;heart development;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045835;negative regulation of meiotic nuclear division;IEA|GO:0060047;heart contraction;IEA|GO:0070613;regulation of protein processing;IEA|GO:0071322;cellular response to carbohydrate stimulus;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004711;ribosomal protein S6 kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPS6KA2	https://www.uniprot.org/uniprot/Q15349		https://www.ncbi.nlm.nih.gov/omim/?term=601685	http://www.informatics.jax.org/searchtool/Search.do?query=RPS6KA2&submit=Quick%0D%1393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS6KA2	rs3833956	0.714856	0	0	1	0	0	intronic	intronic	intronic	RPS6KA2	RPS6KA2	ENSG00000071242	Na	Na	Na	Na	Na	Na	Het;-C	80;3|4	Hom;-C	101;0|4
N	N	-	6	167592656	167592656	G	C	snp	intronic	 	 	 	 	TCP10L2	 	ENSG00000166984	t-complex 10 like 2	chr6:167559902-167610401		Hypertension; Hematocrit; Erythrocyte Count; Triglycerides	 					http://www.genecards.org/index.php?path=/Search/keyword/TCP10L2				http://www.informatics.jax.org/searchtool/Search.do?query=TCP10L2&submit=Quick%0D%11926ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCP10L2	rs4710193	0.837859	0	0.7767	1	0	0	intronic	intronic	intronic	TCP10L2	TCP10L2	ENSG00000166984	Na	Na	Na	Na	Na	Na	Het;G>C	2142;16|92	Hom;G>C	2599;11|105
N	N	-	6	167721545	167721545	G	A	snp	intronic	 	 	 	 	UNC93A	Unc93a	ENSG00000112494	unc-93 homolog A (C. elegans)	chr6:167684657-167729507			 		GO:0008150;biological_process;ND	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/UNC93A	https://www.uniprot.org/uniprot/Q86WB7		https://www.ncbi.nlm.nih.gov/omim/?term=607995	http://www.informatics.jax.org/searchtool/Search.do?query=UNC93A&submit=Quick%0D%4251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC93A	rs9457296	0.0501198	0	0	1	0	0	intronic	intronic	intronic	UNC93A	UNC93A	ENSG00000112494	Na	Na	Na	Na	Na	Na	Het;G>A	199;7|8	Hom;G>A	725;0|23
N	N	-	6	167728791	167728791	G	A	snp	nonsynonymous SNV	G1099A	V367I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	UNC93A	Unc93a	ENSG00000112494	unc-93 homolog A (C. elegans)	chr6:167684657-167729507			 		GO:0008150;biological_process;ND	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/UNC93A	https://www.uniprot.org/uniprot/Q86WB7		https://www.ncbi.nlm.nih.gov/omim/?term=607995	http://www.informatics.jax.org/searchtool/Search.do?query=UNC93A&submit=Quick%0D%4251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC93A	rs7739897	0.0690895	0.1055	0.0709	0.00	0	13	exonic	exonic	exonic	UNC93A	UNC93A	ENSG00000112494	nonsynonymous SNV	nonsynonymous SNV	unknown	UNC93A:NM_001143947:exon7:c.G1099A:p.V367I,UNC93A:NM_018974:exon8:c.G1225A:p.V409I,	UNC93A:uc003qvq.3:exon8:c.G1225A:p.V409I,UNC93A:uc003qvr.3:exon7:c.G1099A:p.V367I,	UNKNOWN	Het;G>A	635;49|30	Hom;G>A	1483;4|56
N	N	-	6	167738595	167738595	G	A	snp	UTR5	-67G>A	 	 	 	TTLL2	Ttll2	ENSG00000120440	tubulin tyrosine ligase like 2	chr6:167738574-167772991		Body Height	 	Carboxyterminal post-translational modifications of tubulin	GO:0006464;cellular protein modification process;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTLL2	https://www.uniprot.org/uniprot/Q9BWV7			http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2	rs41266329	0.0465256	0.0839	0	1	0	0	UTR5	UTR5	UTR5	TTLL2(NM_031949:c.-67G>A)	TTLL2(uc003qvs.1:c.-67G>A)	ENSG00000120440(ENST00000239587:c.-67G>A,ENST00000515138:c.-67G>A,ENST00000512917:c.-67G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	359;16|18	Hom;G>A	815;2|35
N	N	-	6	167738723	167738723	C	T	snp	intronic	 	 	 	 	TTLL2	Ttll2	ENSG00000120440	tubulin tyrosine ligase like 2	chr6:167738574-167772991		Body Height	 	Carboxyterminal post-translational modifications of tubulin	GO:0006464;cellular protein modification process;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTLL2	https://www.uniprot.org/uniprot/Q9BWV7			http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2	rs55788158	0.0361422	0.0727	0.0883	1	0	0	intronic	intronic	intronic	TTLL2	TTLL2	ENSG00000120440	Na	Na	Na	Na	Na	Na	Het;C>T	661;52|37	Hom;C>T	1687;0|62
N	N	-	6	167754702	167754702	C	T	snp	synonymous SNV	C1314T	D438D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TTLL2	Ttll2	ENSG00000120440	tubulin tyrosine ligase like 2	chr6:167738574-167772991		Body Height	 	Carboxyterminal post-translational modifications of tubulin	GO:0006464;cellular protein modification process;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTLL2	https://www.uniprot.org/uniprot/Q9BWV7			http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2	rs909546	0.513379	0.4841	0.4448	1	0	0	exonic	exonic	exonic	TTLL2	TTLL2	ENSG00000120440	synonymous SNV	synonymous SNV	unknown	TTLL2:NM_031949:exon3:c.C1314T:p.D438D,	TTLL2:uc003qvs.1:exon3:c.C1314T:p.D438D,	UNKNOWN	Het;C>T	1983;166|103	Hom;C>T	4559;0|175
N	N	-	6	167754721	167754721	G	A	snp	nonsynonymous SNV	G1333A	G445S	aliphatic,neutral	polar,hydrophilic,neutral	TTLL2	Ttll2	ENSG00000120440	tubulin tyrosine ligase like 2	chr6:167738574-167772991		Body Height	 	Carboxyterminal post-translational modifications of tubulin	GO:0006464;cellular protein modification process;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTLL2	https://www.uniprot.org/uniprot/Q9BWV7			http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2	rs9457304	0.0623003	0.1000	0.0687	0.08	1	13	exonic	exonic	exonic	TTLL2	TTLL2	ENSG00000120440	nonsynonymous SNV	nonsynonymous SNV	unknown	TTLL2:NM_031949:exon3:c.G1333A:p.G445S,	TTLL2:uc003qvs.1:exon3:c.G1333A:p.G445S,	UNKNOWN	Het;G>A	2089;166|109	Hom;G>A	4910;2|174
N	N	-	6	167768117	167768117	A	G	snp	intronic	 	 	 	 	TTLL2	Ttll2	ENSG00000120440	tubulin tyrosine ligase like 2	chr6:167738574-167772991		Body Height	 	Carboxyterminal post-translational modifications of tubulin	GO:0006464;cellular protein modification process;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTLL2	https://www.uniprot.org/uniprot/Q9BWV7			http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2	rs9457308	0.117013	0	0	1	0	0	intergenic	intergenic	intronic	TTLL2(dist=11940),TCP10(dist=18460)	TTLL2(dist=11940),TCP10(dist=2404)	ENSG00000120440	Na	Na	Na	Na	Na	Na	Het;A>G	118;3|6	Hom;A>G	259;0|11
N	N	-	6	167768161	167768161	G	A	snp	intronic	 	 	 	 	TTLL2	Ttll2	ENSG00000120440	tubulin tyrosine ligase like 2	chr6:167738574-167772991		Body Height	 	Carboxyterminal post-translational modifications of tubulin	GO:0006464;cellular protein modification process;IEA		GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTLL2	https://www.uniprot.org/uniprot/Q9BWV7			http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2	rs9457309	0.116813	0	0	1	0	0	intergenic	intergenic	intronic	TTLL2(dist=11984),TCP10(dist=18416)	TTLL2(dist=11984),TCP10(dist=2360)	ENSG00000120440	Na	Na	Na	Na	Na	Na	Het;G>A	198;5|10	Hom;G>A	617;0|23
N	N	-	6	168197527	168197527	G	C	snp	ncRNA_exonic	 	 	 	 	LINC01558																		rs853836	0.482428	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR5;UTR3	LINC01558	C6orf123	ENSG00000146521(ENST00000495520:c.-5771C>G);ENSG00000269155(ENST00000597278:c.*345G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	319;5|14	Hom;G>C	735;0|25
N	N	-	6	168458074	168458074	G	A	snp	intronic	 	 	 	 	FRMD1	 	ENSG00000153303	FERM domain containing 1	chr6:168456425-168482237		Lipoproteins, HDL	 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD1	https://www.uniprot.org/uniprot/Q8N878			http://www.informatics.jax.org/searchtool/Search.do?query=FRMD1&submit=Quick%0D%9655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD1	rs3734900	0.45627	0	0	1	0	0	intronic	intronic	intronic	FRMD1	FRMD1	ENSG00000153303	Na	Na	Na	Na	Na	Na	Het;G>A	605;15|24	Hom;G>A	864;0|31
N	N	-	6	168459790	168459790	G	T	snp	intronic	 	 	 	 	FRMD1	 	ENSG00000153303	FERM domain containing 1	chr6:168456425-168482237		Lipoproteins, HDL	 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD1	https://www.uniprot.org/uniprot/Q8N878			http://www.informatics.jax.org/searchtool/Search.do?query=FRMD1&submit=Quick%0D%9655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD1	rs1465182	0.482827	0.4501	0.5505	1	0	0	intronic	intronic	intronic	FRMD1	FRMD1	ENSG00000153303	Na	Na	Na	Na	Na	Na	Het;G>T	382;17|21	Hom;G>T	741;1|25
N	N	-	6	168462765	168462765	C	T	snp	intronic	 	 	 	 	FRMD1	 	ENSG00000153303	FERM domain containing 1	chr6:168456425-168482237		Lipoproteins, HDL	 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FRMD1	https://www.uniprot.org/uniprot/Q8N878			http://www.informatics.jax.org/searchtool/Search.do?query=FRMD1&submit=Quick%0D%9655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD1	rs3823460	0.477436	0	0	1	0	0	intronic	intronic	intronic	FRMD1	FRMD1	ENSG00000153303	Na	Na	Na	Na	Na	Na	Het;C>T	70;1|3	Hom;C>T	131;0|5
N	N	-	6	168695309	168695309	C	T	snp	intronic	 	 	 	 	DACT2	Dact2	ENSG00000164488	dishevelled binding antagonist of beta catenin 2	chr6:168693510-168720434		Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT2			https://www.ncbi.nlm.nih.gov/omim/?term=608966	http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2	rs4708710	0.60643	0	0.6582	1	0	0	intronic	intergenic	intronic	DACT2	FRMD1(dist=215452),DACT2(dist=12275)	ENSG00000164488	Na	Na	Na	Na	Na	Na	Het;C>T	236;17|12	Hom;C>T	469;0|19
N	N	-	6	168695345	168695345	G	A	snp	nonsynonymous SNV	C698T	P233L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	DACT2	Dact2	ENSG00000164488	dishevelled binding antagonist of beta catenin 2	chr6:168693510-168720434		Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT2			https://www.ncbi.nlm.nih.gov/omim/?term=608966	http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2	rs4708711	0.60603	0	0.6503	0.38	3	8	exonic	intergenic	exonic	DACT2	FRMD1(dist=215488),DACT2(dist=12239)	ENSG00000164488	nonsynonymous SNV	Na	unknown	DACT2:NM_001286351:exon4:c.C698T:p.P233L,	Na	UNKNOWN	Het;G>A	326;19|16	Hom;G>A	494;0|19
N	N	-	6	168707949	168707949	A	G	snp	UTR3	*163T>C	 	 	 	DACT2	Dact2	ENSG00000164488	dishevelled binding antagonist of beta catenin 2	chr6:168693510-168720434		Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT2			https://www.ncbi.nlm.nih.gov/omim/?term=608966	http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2	rs3734904	0.483427	0	0	1	0	0	UTR3	UTR3	UTR3	DACT2(NM_001286350:c.*163T>C,NM_214462:c.*163T>C)	DACT2(uc003qwq.3:c.*163T>C)	ENSG00000164488(ENST00000366795:c.*163T>C,ENST00000607983:c.*163T>C,ENST00000610183:c.*163T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1386;77|67	Hom;A>G	4226;0|150
N	N	-	6	168708751	168708751	A	G	snp	synonymous SNV	T1686C	S562S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DACT2	Dact2	ENSG00000164488	dishevelled binding antagonist of beta catenin 2	chr6:168693510-168720434		Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT2			https://www.ncbi.nlm.nih.gov/omim/?term=608966	http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2	rs10945499	0.508586	0.4722	0.4678	1	0	0	exonic	exonic	exonic	DACT2	DACT2	ENSG00000164488	synonymous SNV	synonymous SNV	unknown	DACT2:NM_001286350:exon3:c.T1176C:p.S392S,DACT2:NM_214462:exon4:c.T1686C:p.S562S,	DACT2:uc003qwq.3:exon4:c.T1686C:p.S562S,	UNKNOWN	Het;A>G	1289;52|58	Hom;A>G	1811;1|66
N	N	-	6	168708793	168708793	C	G	snp	synonymous SNV	G1644C	R548R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	DACT2	Dact2	ENSG00000164488	dishevelled binding antagonist of beta catenin 2	chr6:168693510-168720434		Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT2			https://www.ncbi.nlm.nih.gov/omim/?term=608966	http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2	rs10945500	0.256989	0	0.2795	1	0	0	exonic	exonic	exonic	DACT2	DACT2	ENSG00000164488	synonymous SNV	synonymous SNV	unknown	DACT2:NM_001286350:exon3:c.G1134C:p.R378R,DACT2:NM_214462:exon4:c.G1644C:p.R548R,	DACT2:uc003qwq.3:exon4:c.G1644C:p.R548R,	UNKNOWN	Het;C>G	1880;44|55	Hom;C>G	1905;0|68
N	N	-	6	168708816	168708816	T	G	snp	nonsynonymous SNV	A1111C	T371P	polar,hydrophilic,neutral	hydrophobic,neutral	DACT2	Dact2	ENSG00000164488	dishevelled binding antagonist of beta catenin 2	chr6:168693510-168720434		Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT2			https://www.ncbi.nlm.nih.gov/omim/?term=608966	http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2	rs10945501	0.504393	0	0.4538	0.08	1	13	exonic	exonic	exonic	DACT2	DACT2	ENSG00000164488	nonsynonymous SNV	nonsynonymous SNV	unknown	DACT2:NM_001286350:exon3:c.A1111C:p.T371P,DACT2:NM_214462:exon4:c.A1621C:p.T541P,	DACT2:uc003qwq.3:exon4:c.A1621C:p.T541P,	UNKNOWN	Het;T>G	1769;45|47	Hom;T>G	2096;0|74
N	N	-	6	168709385	168709385	T	C	snp	nonsynonymous SNV	A542G	E181G	polar,hydrophilic,charged(-)	aliphatic,neutral	DACT2	Dact2	ENSG00000164488	dishevelled binding antagonist of beta catenin 2	chr6:168693510-168720434		Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS	GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA	GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DACT2			https://www.ncbi.nlm.nih.gov/omim/?term=608966	http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2	rs6925614	0.3752	0.3931	0.3907	0.08	1	13	exonic	exonic	exonic;splicing	DACT2	DACT2	ENSG00000164488;ENSG00000164488	nonsynonymous SNV	nonsynonymous SNV	unknown	DACT2:NM_001286350:exon3:c.A542G:p.E181G,DACT2:NM_214462:exon4:c.A1052G:p.E351G,	DACT2:uc003qwq.3:exon4:c.A1052G:p.E351G,	UNKNOWN	Het;T>C	2058;95|93	Hom;T>C	4283;2|152
N	N	-	6	169241431	169241431	C	T	snp	intergenic	 	 	 	 	AL136099.1																		rs75689814	0.275759	0	0	1	0	0	intergenic	intergenic	intergenic	SMOC2(dist=172757),LOC101929504(dist=333968)	SMOC2(dist=172757),AF086258(dist=333968)	ENSG00000235815(dist=117827),ENSG00000225879(dist=121274)	Na	Na	Na	Na	Na	Na	Het;C>T	45;1|3	Hom;C>T	71;0|4
N	N	-	6	16966702	16966702	T	C	snp	intergenic	 	 	 	 	AL137003.2																		rs10456797	0.759784	0	0	1	0	0	intergenic	intergenic	intergenic	ATXN1(dist=204981),STMND1(dist=135787)	ATXN1(dist=204981),STMND1(dist=135787)	ENSG00000272341(dist=199588),ENSG00000230873(dist=135787)	Na	Na	Na	Na	Na	Na	Het;T>C	118;16|7	Hom;T>C	1212;0|39
N	N	-	6	170049421	170049421	T	G	snp	intronic	 	 	 	 	WDR27	Wdr27	ENSG00000184465	WD repeat domain 27	chr6:169857307-170102159	This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]	HIV-1; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 			GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR27				http://www.informatics.jax.org/searchtool/Search.do?query=WDR27&submit=Quick%0D%15212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR27	rs4145868	0.697085	0.4629	0.5043	1	0	0	intronic	intronic	intronic	WDR27	WDR27	ENSG00000184465	Na	Na	Na	Na	Na	Na	Het;T>G	244;23|15	Hom;T>G	814;0|30
N	N	-	6	170068025	170068025	T	C	snp	intronic	 	 	 	 	WDR27	Wdr27	ENSG00000184465	WD repeat domain 27	chr6:169857307-170102159	This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]	HIV-1; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 			GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR27				http://www.informatics.jax.org/searchtool/Search.do?query=WDR27&submit=Quick%0D%15212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR27	rs41265383	0.227636	0	0	1	0	0	intronic	intronic	intronic	WDR27	WDR27	ENSG00000184465	Na	Na	Na	Na	Na	Na	Het;T>C	108;8|5	Hom;T>C	460;0|15
N	N	-	6	170068058	170068058	A	G	snp	intronic	 	 	 	 	WDR27	Wdr27	ENSG00000184465	WD repeat domain 27	chr6:169857307-170102159	This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]	HIV-1; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 			GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR27				http://www.informatics.jax.org/searchtool/Search.do?query=WDR27&submit=Quick%0D%15212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR27	rs4509126	0.227037	0.1534	0.1954	1	0	0	intronic	intronic	intronic	WDR27	WDR27	ENSG00000184465	Na	Na	Na	Na	Na	Na	Het;A>G	288;22|12	Hom;A>G	831;0|29
N	N	-	6	170068086	170068086	C	T	snp	nonsynonymous SNV	G652A	G218S	aliphatic,neutral	polar,hydrophilic,neutral	WDR27	Wdr27	ENSG00000184465	WD repeat domain 27	chr6:169857307-170102159	This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]	HIV-1; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 			GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR27				http://www.informatics.jax.org/searchtool/Search.do?query=WDR27&submit=Quick%0D%15212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR27	rs41265385	0.197484	0.1309	0.1538	0.15	2	13	exonic	exonic	exonic	WDR27	WDR27	ENSG00000184465	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR27:NM_182552:exon5:c.G652A:p.G218S,	WDR27:uc003qwx.3:exon5:c.G652A:p.G218S,	UNKNOWN	Het;C>T	474;32|21	Hom;C>T	1288;0|45
N	N	-	6	170070723	170070723	A	G	snp	nonsynonymous SNV	T398C	L133P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	WDR27	Wdr27	ENSG00000184465	WD repeat domain 27	chr6:169857307-170102159	This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]	HIV-1; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 			GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR27				http://www.informatics.jax.org/searchtool/Search.do?query=WDR27&submit=Quick%0D%15212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR27	rs4236176	0.53734	0.3155	0.3950	0.08	1	13	exonic	exonic	exonic	WDR27	WDR27	ENSG00000184465	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR27:NM_182552:exon4:c.T398C:p.L133P,	WDR27:uc003qwx.3:exon4:c.T398C:p.L133P,	UNKNOWN	Het;A>G	1258;75|63	Hom;A>G	2584;1|100
N	N	-	6	170114670	170114670	A	G	snp	intronic	 	 	 	 	PHF10	Phf10	ENSG00000130024	PHD finger protein 10	chr6:170104001-170124151	This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]		Mice homozygous for a floxed allele are viable and fertile.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007399;nervous system development;IEA	GO:0005634;nucleus;IDA|GO:0071564;npBAF complex;ISS	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF10	https://www.uniprot.org/uniprot/Q8WUB8		https://www.ncbi.nlm.nih.gov/omim/?term=613069	http://www.informatics.jax.org/searchtool/Search.do?query=PHF10&submit=Quick%0D%6306ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF10	rs73242910	0.228435	0	0	1	0	0	intronic	intronic	intronic	PHF10	PHF10	ENSG00000130024	Na	Na	Na	Na	Na	Na	Het;A>G	158;3|5	Hom;A>G	128;0|5
N	N	-	6	170120927	170120927	C	T	snp	intronic	 	 	 	 	PHF10	Phf10	ENSG00000130024	PHD finger protein 10	chr6:170104001-170124151	This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]		Mice homozygous for a floxed allele are viable and fertile.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007399;nervous system development;IEA	GO:0005634;nucleus;IDA|GO:0071564;npBAF complex;ISS	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF10	https://www.uniprot.org/uniprot/Q8WUB8		https://www.ncbi.nlm.nih.gov/omim/?term=613069	http://www.informatics.jax.org/searchtool/Search.do?query=PHF10&submit=Quick%0D%6306ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF10	rs6459654	0.73762	0	0	1	0	0	intronic	intronic	intronic	PHF10	PHF10	ENSG00000130024	Na	Na	Na	Na	Na	Na	Het;C>T	34;10|3	Hom;C>T	343;0|11
N	N	-	6	170149793	170149793	T	C	snp	ncRNA_exonic	 	 	 	 	AK023627																		rs3088346	0.247204	0	0	1	0	0	intronic	ncRNA_exonic	intronic	TCTE3	AK023627	ENSG00000184786	Na	Na	Na	Na	Na	Na	Het;T>C	1332;66|58	Hom;T>C	3863;0|128
N	N	-	6	170151766	170151766	C	T	snp	intronic	 	 	 	 	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs3749882	0.23762	0.1601	0.2234	1	0	0	intronic	intronic	intronic	ERMARD	C6orf70	ENSG00000130023	Na	Na	Na	Na	Na	Na	Het;C>T	254;22|14	Hom;C>T	770;0|30
N	N	-	6	170155331	170155331	A	T	snp	intronic	 	 	 	 	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs6459658	0.324081	0.2843	0.2641	1	0	0	intronic	intronic	intronic	ERMARD	C6orf70	ENSG00000130023	Na	Na	Na	Na	Na	Na	Het;A>T	974;54|46	Hom;A>T	2431;1|86
N	N	-	6	170159023	170159023	G	A	snp	intronic	 	 	 	 	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs6459660	0.747204	0.5584	0.5521	1	0	0	intronic	intronic	intronic	ERMARD	C6orf70	ENSG00000130023	Na	Na	Na	Na	Na	Na	Het;G>A	515;23|24	Hom;G>A	1418;0|45
N	N	-	6	170162537	170162537	C	T	snp	synonymous SNV	C492T	C164C	polar,hydrophobic,neutral	polar,hydrophobic,neutral	C6orf70																		rs11966349	0.201078	0.1442	0.1450	1	0	0	exonic	exonic	exonic	ERMARD	C6orf70	ENSG00000130023	synonymous SNV	synonymous SNV	unknown	ERMARD:NM_018341:exon9:c.C870T:p.C290C,ERMARD:NM_001278531:exon9:c.C870T:p.C290C,ERMARD:NM_001278532:exon8:c.C492T:p.C164C,ERMARD:NM_001278533:exon9:c.C870T:p.C290C,	C6orf70:uc011ehb.1:exon8:c.C492T:p.C164C,C6orf70:uc010kky.1:exon8:c.C492T:p.C164C,C6orf70:uc003qxg.1:exon9:c.C870T:p.C290C,C6orf70:uc003qxh.1:exon9:c.C870T:p.C290C,	UNKNOWN	Het;C>T	759;49|36	Hom;C>T	2709;2|103
N	N	-	6	170176407	170176407	G	A	snp	intronic	 	 	 	 	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs4716398	0.34405	0	0.3024	1	0	0	intronic	intronic	intronic	ERMARD	C6orf70	ENSG00000130023	Na	Na	Na	Na	Na	Na	Het;G>A	411;37|21	Hom;G>A	1380;0|48
N	N	-	6	170176467	170176467	A	G	snp	nonsynonymous SNV	A1558G	K520E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs4716345	0.328275	0	0.3249	0.10	1	10	exonic	exonic	exonic	ERMARD	C6orf70	ENSG00000130023	nonsynonymous SNV	nonsynonymous SNV	unknown	ERMARD:NM_001278531:exon16:c.A1558G:p.K520E,	C6orf70:uc010kky.1:exon15:c.A1180G:p.K394E,	UNKNOWN	Het;A>G	1477;74|64	Hom;A>G	3711;0|126
N	N	-	6	170176647	170176647	C	T	snp	synonymous SNV	C1239T	I413I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C6orf70																		rs4716399	0.34365	0.3095	0.2661	1	0	0	exonic	exonic	exonic	ERMARD	C6orf70	ENSG00000130023	synonymous SNV	synonymous SNV	unknown	ERMARD:NM_018341:exon16:c.C1617T:p.I539I,ERMARD:NM_001278532:exon15:c.C1239T:p.I413I,	C6orf70:uc011ehb.1:exon15:c.C1239T:p.I413I,C6orf70:uc003qxg.1:exon16:c.C1617T:p.I539I,C6orf70:uc003qxi.1:exon6:c.C561T:p.I187I,	UNKNOWN	Het;C>T	2836;94|78	Hom;C>T	6450;0|145
N	N	-	6	170176648	170176648	A	G	snp	nonsynonymous SNV	A1618G	S540G	polar,hydrophilic,neutral	aliphatic,neutral	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs4716346	0.34365	0.3095	0.2662	0.08	1	13	exonic	exonic	exonic	ERMARD	C6orf70	ENSG00000130023	nonsynonymous SNV	nonsynonymous SNV	unknown	ERMARD:NM_018341:exon16:c.A1618G:p.S540G,ERMARD:NM_001278532:exon15:c.A1240G:p.S414G,	C6orf70:uc011ehb.1:exon15:c.A1240G:p.S414G,C6orf70:uc003qxg.1:exon16:c.A1618G:p.S540G,C6orf70:uc003qxi.1:exon6:c.A562G:p.S188G,	UNKNOWN	Het;A>G	2836;94|72	Hom;A>G	6450;0|143
N	N	-	6	170176847	170176847	C	T	snp	intronic	 	 	 	 	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs17860647	0.34345	0	0	1	0	0	intronic	intronic	intronic	ERMARD	C6orf70	ENSG00000130023	Na	Na	Na	Na	Na	Na	Het;C>T	207;16|10	Hom;C>T	774;0|28
N	N	-	6	170176882	170176882	C	T	snp	intronic	 	 	 	 	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs7765561	0.327676	0	0	1	0	0	intronic	intronic	intronic	ERMARD	C6orf70	ENSG00000130023	Na	Na	Na	Na	Na	Na	Het;C>T	76;9|4	Hom;C>T	358;0|14
N	N	-	6	170179507	170179507	C	T	snp	intronic	 	 	 	 	ERMARD	Ermard	ENSG00000276187	ER membrane associated RNA degradation	chr6:170151718-170181680	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Periventricular Heterotopia	 		GO:0007275;multicellular organism development;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ERMARD	https://www.uniprot.org/uniprot/Q5T6L9	https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615532	http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD	rs3828738	0.347045	0	0	1	0	0	intronic	intronic	intronic	ERMARD	C6orf70	ENSG00000130023	Na	Na	Na	Na	Na	Na	Het;C>T	722;14|31	Hom;C>T	1021;1|36
N	N	-	6	170189247	170189247	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00242																		rs9371173	0.746406	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LINC00242	LINC00242(uc003qxj.1:c.*893T>C)	ENSG00000229214	Na	Na	Na	Na	Na	Na	Het;A>G	1476;65|60	Hom;A>G	3146;0|104
N	N	-	6	170189444	170189444	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00242																		rs60553678	0.346246	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LINC00242	LINC00242(uc003qxj.1:c.*696C>G)	ENSG00000229214	Na	Na	Na	Na	Na	Na	Het;G>C	1308;58|57	Hom;G>C	3248;2|117
N	N	-	6	170189757	170189757	T	TAGAC	indel	ncRNA_exonic	 	 	 	 	LINC00242																		rs397716627	0.346046	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LINC00242	LINC00242(uc003qxj.1:c.*383A>GTCTA)	ENSG00000229214	Na	Na	Na	Na	Na	Na	Het;+AGAC	3029;94|81	Hom;+AGAC	9428;0|210
N	N	-	6	170189926	170189926	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00242																		rs3823466	0.25619	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LINC00242	LINC00242(uc003qxj.1:c.*214C>T)	ENSG00000229214	Na	Na	Na	Na	Na	Na	Het;G>A	1444;110|75	Hom;G>A	3853;2|147
N	N	-	6	170190200	170190200	G	A	snp	synonymous SNV	C555T	H185H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	LINC00242																		rs3807067	0.749601	0.5499	0.5776	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LINC00242,LINC00574	LINC00242	ENSG00000229214	Na	synonymous SNV	Na	Na	LINC00242:uc003qxj.1:exon2:c.C555T:p.H185H,	Na	Het;G>A	2238;68|103	Hom;G>A	5249;2|192
N	N	-	6	170190418	170190418	T	G	snp	synonymous SNV	A337C	R113R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LINC00242																		rs3823467	0.336861	0.2994	0.2775	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LINC00242,LINC00574	LINC00242	ENSG00000229214,ENSG00000231690	Na	synonymous SNV	Na	Na	LINC00242:uc003qxj.1:exon2:c.A337C:p.R113R,	Na	Het;T>G	1178;46|52	Hom;T>G	2472;3|90
N	N	-	6	170191110	170191110	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00242																		rs9396955	0.759185	0	0	1	0	0	ncRNA_exonic	ncRNA_intronic	ncRNA_exonic	LINC00242	LINC00574	ENSG00000229214	Na	Na	Na	Na	Na	Na	Het;C>T	1228;98|66	Hom;C>T	3425;0|130
N	N	-	6	170198713	170198713	A	C	snp	ncRNA_intronic	 	 	 	 	LINC00574																		rs9397009	0.539936	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00242,LINC00574	LINC00574	ENSG00000229214,ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;A>C	333;9|12	Hom;A>C	486;1|14
N	N	-	6	170201300	170201300	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs1078211	0.752196	0.5545	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;T>C	1648;84|82	Hom;T>C	4284;0|160
N	N	-	6	170201385	170201385	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs1078208	0.539537	0.3458	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;A>G	834;62|38	Hom;A>G	2845;0|91
N	N	-	6	170201562	170201562	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs910245	0.754393	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;T>C	1738;91|77	Hom;T>C	4024;0|147
N	N	-	6	170201598	170201598	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs1078209	0.539736	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;C>T	1689;91|86	Hom;C>T	4150;0|160
N	N	-	6	170201639	170201639	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs1078210	0.539736	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;A>G	1772;103|88	Hom;A>G	4862;0|174
N	N	-	6	170202158	170202158	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs3749888	0.540136	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;T>C	2266;66|88	Hom;T>C	2845;0|99
N	N	-	6	170202245	170202245	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs3749890	0.541134	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;C>T	2260;92|100	Hom;C>T	4680;0|169
N	N	-	6	170202517	170202517	G	T	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs926714	0.752396	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;G>T	1862;80|85	Hom;G>T	3638;0|128
N	N	-	6	170202687	170202687	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00574																		rs1811843	0.757188	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00574	LINC00574	ENSG00000231690	Na	Na	Na	Na	Na	Na	Het;A>G	625;19|25	Hom;A>G	1211;0|41
N	N	-	6	170475812	170475812	T	C	snp	upstream	 	 	 	 	LOC102724511																		rs2935054	0.881789	0	0	1	0	0	upstream	intergenic	intergenic	LOC102724511	LINC00574(dist=272843),LOC154449(dist=87610)	ENSG00000236173(dist=265614),ENSG00000232197(dist=1929)	Na	Na	Na	Na	Na	Na	Het;T>C	226;21|14	Hom;T>C	167;0|25
N	N	-	6	170478328	170478328	A	G	snp	downstream	 	 	 	 	AL596442.1																		rs2279679	0.22524	0	0	1	0	0	downstream	intergenic	downstream	LOC102724511	LINC00574(dist=275359),LOC154449(dist=85094)	ENSG00000232197	Na	Na	Na	Na	Na	Na	Het;A>G	519;19|20	Hom;A>G	754;0|27
N	N	-	6	1726623	1726623	C	T	snp	intronic	 	 	 	 	GMDS	Gmds	ENSG00000112699	GDP-mannose 4,6-dehydratase	chr6:1624041-2245926	GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]	Tobacco Use Disorder	 	GDP-fucose biosynthesis	GO:0007219;Notch signaling pathway;ISS|GO:0019673;GDP-mannose metabolic process;IDA|GO:0042351;'de novo' GDP-L-fucose biosynthetic process;IDA	GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008446;GDP-mannose 4,6-dehydratase activity;TAS|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0070401;NADP+ binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GMDS	https://www.uniprot.org/uniprot/O60547		https://www.ncbi.nlm.nih.gov/omim/?term=602884	http://www.informatics.jax.org/searchtool/Search.do?query=GMDS&submit=Quick%0D%4279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GMDS	rs960295	0.216454	0.1866	0.2512	1	0	0	intronic	intronic	intronic	GMDS	GMDS	ENSG00000112699	Na	Na	Na	Na	Na	Na	Het;C>T	718;25|34	Hom;C>T	1606;0|61
N	N	-	6	17628841	17628841	T	TA	indel	intronic	 	 	 	 	NUP153	Nup153	ENSG00000124789	nucleoporin 153	chr6:17615269-17706656	Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]	HIV Infections|[X]Human immunodeficiency virus disease; height	 	tRNA processing in the nucleus	GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0046718;viral entry into host cell;IEA|GO:0046832;negative regulation of RNA export from nucleus;IDA|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075732;viral penetration into host nucleus;IEA|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0044615;nuclear pore nuclear basket;IDA	GO:0003677;DNA binding;IEA|GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008270;zinc ion binding;IEA|GO:0017056;structural constituent of nuclear pore;IMP|GO:0042802;identical protein binding;IPI|GO:0043495;protein anchor;IMP|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUP153	https://www.uniprot.org/uniprot/P49790		https://www.ncbi.nlm.nih.gov/omim/?term=603948	http://www.informatics.jax.org/searchtool/Search.do?query=NUP153&submit=Quick%0D%5719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP153	rs11422297	0	0	0.5651	1	0	0	intronic	intronic	intronic	NUP153	NUP153	ENSG00000124789	Na	Na	Na	Na	Na	Na	Het;+A	375;4|19	Hom;+A	68;0|4
N	N	-	6	18215166	18215166	C	CA	indel	intronic	 	 	 	 	KDM1B	Kdm1b	ENSG00000165097	lysine demethylase 1B	chr6:18155560-18224084	Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]		Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5.	UCH proteinases	GO:0006349;regulation of gene expression by genetic imprinting;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0034720;histone H3-K4 demethylation;IDA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0044030;regulation of DNA methylation;ISS|GO:0055114;oxidation-reduction process;IEA	GO:0000786;nucleosome;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;TAS|GO:0034648;histone demethylase activity (H3-dimethyl-K4 specific);IDA|GO:0034649;histone demethylase activity (H3-monomethyl-K4 specific);IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KDM1B			https://www.ncbi.nlm.nih.gov/omim/?term=613081	http://www.informatics.jax.org/searchtool/Search.do?query=KDM1B&submit=Quick%0D%11465ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM1B	rs66551414	0.376797	0	0	1	0	0	intronic	intronic	intronic	KDM1B	KDM1B	ENSG00000165097	Na	Na	Na	Na	Na	Na	Het;+A	213;5|10	Hom;+A	415;0|16
N	N	-	6	18222102	18222102	C	CTT	indel	intronic	 	 	 	 	KDM1B	Kdm1b	ENSG00000165097	lysine demethylase 1B	chr6:18155560-18224084	Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]		Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5.	UCH proteinases	GO:0006349;regulation of gene expression by genetic imprinting;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0034720;histone H3-K4 demethylation;IDA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0044030;regulation of DNA methylation;ISS|GO:0055114;oxidation-reduction process;IEA	GO:0000786;nucleosome;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;TAS|GO:0034648;histone demethylase activity (H3-dimethyl-K4 specific);IDA|GO:0034649;histone demethylase activity (H3-monomethyl-K4 specific);IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KDM1B			https://www.ncbi.nlm.nih.gov/omim/?term=613081	http://www.informatics.jax.org/searchtool/Search.do?query=KDM1B&submit=Quick%0D%11465ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM1B	rs140834	0.368211	0.3393	0.2861	1	0	0	intronic	intronic	intronic	KDM1B	KDM1B	ENSG00000165097	Na	Na	Na	Na	Na	Na	Het;+TT	1699;28|44	Hom;+TT	1757;0|41
N	N	-	6	19838990	19838990	C	G	snp	ncRNA_intronic	 	 	 	 	ENSG00000226786																		rs9460423	0.155351	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ID4	ID4	ENSG00000226786	Na	Na	Na	Na	Na	Na	Het;C>G	126;1|5	Hom;C>G	179;0|5
N	N	-	6	20182669	20182669	C	T	snp	intronic	 	 	 	 	MBOAT1	Mboat1	ENSG00000172197	membrane bound O-acyltransferase domain containing 1	chr6:20100935-20212670	This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]	Iron; Attention Deficit Disorder with Hyperactivity; Insulin; Body Mass Index; Insulin Resistance	 	Acyl chain remodelling of PE	GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003841;1-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0047144;2-acylglycerol-3-phosphate O-acyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MBOAT1			https://www.ncbi.nlm.nih.gov/omim/?term=611732	http://www.informatics.jax.org/searchtool/Search.do?query=MBOAT1&submit=Quick%0D%13102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MBOAT1	rs9350219	0.61262	0	0	1	0	0	intronic	intronic	intronic	MBOAT1	MBOAT1	ENSG00000172197	Na	Na	Na	Na	Na	Na	Het;C>T	32;9|4	Hom;C>T	141;0|6
N	N	-	6	22292976	22292976	A	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000260049																		rs1205955	0.739816	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PRL	PRL	ENSG00000260049	Na	Na	Na	Na	Na	Na	Het;A>T	291;17|15	Hom;A>T	858;0|33
N	N	-	6	22918237	22918239	GTA	G	indel	ncRNA_intronic	 	 	 	 	AL035401.1																		rs368021190	0.0892572	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	HDGFL1(dist=347487),NRSN1(dist=1208175)	HDGFL1(dist=347487),NRSN1(dist=1208175)	ENSG00000233358	Na	Na	Na	Na	Na	Na	Het;-TA	1585;46|45	Hom;-TA	3838;0|91
N	N	-	6	22918240	22918240	T	C	snp	ncRNA_intronic	 	 	 	 	AL035401.1																		rs567599090	0.0892572	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	HDGFL1(dist=347490),NRSN1(dist=1208174)	HDGFL1(dist=347490),NRSN1(dist=1208174)	ENSG00000233358	Na	Na	Na	Na	Na	Na	Het;T>C	1593;44|45	Hom;T>C	3846;0|91
N	N	-	6	22918244	22918251	AACAATAT	A	indel	ncRNA_intronic	 	 	 	 	AL035401.1																		rs534075742	0.0904553	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	HDGFL1(dist=347494),NRSN1(dist=1208163)	HDGFL1(dist=347494),NRSN1(dist=1208163)	ENSG00000233358	Na	Na	Na	Na	Na	Na	Het;-ACAATAT	1473;41|38	Hom;-ACAATAT	3613;0|79
N	N	-	6	22918253	22918253	T	G	snp	ncRNA_intronic	 	 	 	 	AL035401.1																		rs534315129	0.0894569	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	HDGFL1(dist=347503),NRSN1(dist=1208161)	HDGFL1(dist=347503),NRSN1(dist=1208161)	ENSG00000233358	Na	Na	Na	Na	Na	Na	Het;T>G	1462;35|38	Hom;T>G	3482;0|78
N	N	-	6	23068204	23068204	G	A	snp	intergenic	 	 	 	 	AL035401.1																		rs13206291	0.131789	0	0	1	0	0	intergenic	intergenic	intergenic	HDGFL1(dist=497454),NRSN1(dist=1058210)	HDGFL1(dist=497454),NRSN1(dist=1058210)	ENSG00000233358(dist=36195),ENSG00000218476(dist=34704)	Na	Na	Na	Na	Na	Na	Het;G>A	584;18|26	Hom;G>A	1217;0|45
N	N	-	6	23318275	23318275	C	T	snp	intergenic	 	 	 	 	RNU6-1060P																		rs1925440	0.664936	0	0	1	0	0	intergenic	intergenic	intergenic	HDGFL1(dist=747525),NRSN1(dist=808139)	HDGFL1(dist=747525),NRSN1(dist=808139)	ENSG00000207394(dist=192960),ENSG00000235743(dist=19664)	Na	Na	Na	Na	Na	Na	Het;C>T	200;10|10	Hom;C>T	571;0|21
N	N	-	6	23318311	23318311	A	G	snp	intergenic	 	 	 	 	RNU6-1060P																		rs1925441	0.666933	0	0	1	0	0	intergenic	intergenic	intergenic	HDGFL1(dist=747561),NRSN1(dist=808103)	HDGFL1(dist=747561),NRSN1(dist=808103)	ENSG00000207394(dist=192996),ENSG00000235743(dist=19628)	Na	Na	Na	Na	Na	Na	Het;A>G	31;5|2	Hom;A>G	293;0|8
N	N	-	6	23468240	23468240	T	C	snp	intergenic	 	 	 	 	AL139231.1																		rs199002	0.830272	0	0	1	0	0	intergenic	intergenic	intergenic	HDGFL1(dist=897490),NRSN1(dist=658174)	HDGFL1(dist=897490),NRSN1(dist=658174)	ENSG00000235743(dist=121452),ENSG00000219453(dist=181484)	Na	Na	Na	Na	Na	Na	Het;T>C	251;9|10	Hom;T>C	489;0|19
N	N	-	6	24291203	24291203	T	C	snp	nonsynonymous SNV	A661G	S221G	polar,hydrophilic,neutral	aliphatic,neutral	DCDC2	Dcdc2a	ENSG00000146038	doublecortin domain containing 2	chr6:24171984-24358280	This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]	Neurobehavioral Manifestations; Hypertrophy, Left Ventricular; ADHD | attention-deficit hyperactivity disorder; dyslexia; Schizophrenia; schizophrenia; reading disabilities; Stroke; Dyslexia; null	Mice homozygous for a knock-out allele exhibit impaired short term object recognition, impaired visuo-spatial learning and memory and increased anxiety-related response.		GO:0001764;neuron migration;IEA|GO:0006968;cellular defense response;TAS|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IMP|GO:0030030;cell projection organization;IEA|GO:0030111;regulation of Wnt signaling pathway;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IMP|GO:0060271;cilium assembly;IMP|GO:1902017;regulation of cilium assembly;IMP	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DCDC2	https://www.uniprot.org/uniprot/Q9UHG0	https://hpo.jax.org/app/browse/search?q=DCDC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605755	http://www.informatics.jax.org/searchtool/Search.do?query=DCDC2&submit=Quick%0D%8825ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCDC2	rs2274305	0.516973	0.4825	0.6393	0.23	3	13	exonic	exonic	exonic	DCDC2	DCDC2	ENSG00000146038	nonsynonymous SNV	nonsynonymous SNV	unknown	DCDC2:NM_016356:exon5:c.A661G:p.S221G,DCDC2:NM_001195610:exon6:c.A661G:p.S221G,	DCDC2:uc003ndx.3:exon5:c.A661G:p.S221G,DCDC2:uc003ndy.3:exon6:c.A661G:p.S221G,	UNKNOWN	Het;T>C	388;57|19	Hom;T>C	1881;0|67
N	N	-	6	24806594	24806594	C	T	snp	splicing	189+1G>A	 	 	 	RIPOR2																		rs9358799	0.357827	0.4628	0.4608	1	0	0	UTR3	UTR3	splicing	FAM65B(NM_014722:c.*7G>A,NM_001286445:c.*7G>A)	FAM65B(uc003neo.1:c.*7G>A,uc011djs.1:c.*7G>A)	ENSG00000111913(ENST00000562221:exon3:c.189+1G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	662;42|35	Hom;C>T	1470;0|55
N	N	-	6	24806739	24806739	C	CTT	indel	intronic	 	 	 	 	FAM65B	Fam65b																	rs5875006	0.357628	0.4391	0.4594	1	0	0	intronic	intronic	intronic	FAM65B	FAM65B	ENSG00000111913	Na	Na	Na	Na	Na	Na	Het;+TT	89;28|5	Hom;+TT	1202;0|28
N	N	-	6	24806777	24806777	T	A	snp	intronic	 	 	 	 	FAM65B	Fam65b																	rs9379689	0.358027	0	0	1	0	0	intronic	intronic	intronic	FAM65B	FAM65B	ENSG00000111913	Na	Na	Na	Na	Na	Na	Het;T>A	36;11|3	Hom;T>A	259;0|10
N	N	-	6	24828560	24828560	A	G	snp	intronic	 	 	 	 	FAM65B	Fam65b																	rs45437991	0.175319	0.2668	0.2805	1	0	0	intronic	intronic	intronic	FAM65B	FAM65B	ENSG00000111913	Na	Na	Na	Na	Na	Na	Het;A>G	852;28|26	Hom;A>G	2146;1|60
N	N	-	6	26104448	26104448	A	G	snp	synonymous SNV	A273G	L91L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HIST1H4C	Hist2h4	ENSG00000197061	histone cluster 1 H4 family member c	chr6:26104104-26104518	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]	longevity; Abortion, Spontaneous	 	Amyloid fiber formation	GO:0000183;chromatin silencing at rDNA;TAS|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006334;nucleosome assembly;IDA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0016233;telomere capping;TAS|GO:0032200;telomere organization;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045653;negative regulation of megakaryocyte differentiation;IDA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0051290;protein heterotetramerization;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0000228;nuclear chromosome;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000786;nucleosome;IEA|GO:0000788;nuclear nucleosome;IBA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0003677;DNA binding;IBA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042393;histone binding;IPI|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIST1H4C	https://www.uniprot.org/uniprot/P62805		https://www.ncbi.nlm.nih.gov/omim/?term=602827	http://www.informatics.jax.org/searchtool/Search.do?query=HIST1H4C&submit=Quick%0D%16534ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIST1H4C	rs198852	0.246006	0.3012	0.3325	1	0	0	exonic	exonic	exonic	HIST1H4C	HIST1H4C	ENSG00000197061	synonymous SNV	synonymous SNV	unknown	HIST1H4C:NM_003542:exon1:c.A273G:p.L91L,	HIST1H4C:uc003ngi.3:exon1:c.A273G:p.L91L,	UNKNOWN	Het;A>G	183;24|9	Hom;A>G	1479;0|52
N	N	-	6	26107790	26107790	G	T	snp	nonsynonymous SNV	C532A	Q178K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	HIST1H1T	Hist1h1t	ENSG00000187475	histone cluster 1 H1 family member t	chr6:26107640-26108364	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]	Hemoglobins; Blood Pressure; leukemia; Bilirubin; Abortion, Spontaneous	Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility.		GO:0006334;nucleosome assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;TAS|GO:0030154;cell differentiation;IEA	GO:0000786;nucleosome;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIST1H1T			https://www.ncbi.nlm.nih.gov/omim/?term=142712	http://www.informatics.jax.org/searchtool/Search.do?query=HIST1H1T&submit=Quick%0D%15825ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIST1H1T	rs198845	0.244409	0.3013	0.3313	0.33	4	12	exonic	exonic	exonic	HIST1H1T	HIST1H1T	ENSG00000187475	nonsynonymous SNV	nonsynonymous SNV	unknown	HIST1H1T:NM_005323:exon1:c.C532A:p.Q178K,	HIST1H1T:uc003ngj.3:exon1:c.C532A:p.Q178K,	UNKNOWN	Het;G>T	647;37|33	Hom;G>T	1679;0|64
N	N	-	6	26108282	26108282	C	G	snp	nonsynonymous SNV	G40C	V14L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HIST1H1T	Hist1h1t	ENSG00000187475	histone cluster 1 H1 family member t	chr6:26107640-26108364	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]	Hemoglobins; Blood Pressure; leukemia; Bilirubin; Abortion, Spontaneous	Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility.		GO:0006334;nucleosome assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;TAS|GO:0030154;cell differentiation;IEA	GO:0000786;nucleosome;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIST1H1T			https://www.ncbi.nlm.nih.gov/omim/?term=142712	http://www.informatics.jax.org/searchtool/Search.do?query=HIST1H1T&submit=Quick%0D%15825ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIST1H1T	rs198844	0.407947	0.4834	0.4867	0.08	1	13	exonic	exonic	exonic	HIST1H1T	HIST1H1T	ENSG00000187475	nonsynonymous SNV	nonsynonymous SNV	unknown	HIST1H1T:NM_005323:exon1:c.G40C:p.V14L,	HIST1H1T:uc003ngj.3:exon1:c.G40C:p.V14L,	UNKNOWN	Het;C>G	996;27|39	Hom;C>G	1882;0|68
N	N	-	6	26124243	26124243	G	A	snp	upstream	 	 	 	 	HIST1H2AC	Hist1h2ao	ENSG00000180573	histone cluster 1 H2A family member c	chr6:26124373-26139344	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]		 	Amyloid fiber formation	GO:0006342;chromatin silencing;IBA|GO:0008285;negative regulation of cell proliferation;IMP	GO:0000786;nucleosome;IEA|GO:0000790;nuclear chromatin;IBA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IBA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIST1H2AC			https://www.ncbi.nlm.nih.gov/omim/?term=602794	http://www.informatics.jax.org/searchtool/Search.do?query=HIST1H2AC&submit=Quick%0D%14498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIST1H2AC	rs198820	0.240216	0	0	1	0	0	upstream	upstream	upstream	HIST1H2AC,HIST1H2BC	HIST1H2AC,HIST1H2BC	ENSG00000180573,ENSG00000180596	Na	Na	Na	Na	Na	Na	Het;G>A	87;5|6	Hom;G>A	329;0|11
N	N	-	6	26124430	26124430	C	T	snp	UTR5	-31C>T	 	 	 	HIST1H2AC	Hist1h2ao	ENSG00000180573	histone cluster 1 H2A family member c	chr6:26124373-26139344	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]		 	Amyloid fiber formation	GO:0006342;chromatin silencing;IBA|GO:0008285;negative regulation of cell proliferation;IMP	GO:0000786;nucleosome;IEA|GO:0000790;nuclear chromatin;IBA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IBA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIST1H2AC			https://www.ncbi.nlm.nih.gov/omim/?term=602794	http://www.informatics.jax.org/searchtool/Search.do?query=HIST1H2AC&submit=Quick%0D%14498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIST1H2AC	rs198819	0.390375	0.4681	0.4884	1	0	0	UTR5	UTR5	UTR5	HIST1H2AC(NM_003512:c.-31C>T)	HIST1H2AC(uc003ngm.3:c.-31C>T)	ENSG00000180573(ENST00000377791:c.-31C>T,ENST00000314088:c.-31C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	353;17|17	Hom;C>T	695;0|26
N	N	-	6	2624457	2624457	C	T	snp	intronic	 	 	 	 	C6orf195																		rs17210205	0.123802	0	0	1	0	0	intronic	intronic	intronic	C6orf195	C6orf195	ENSG00000164385	Na	Na	Na	Na	Na	Na	Het;C>T	254;6|9	Hom;C>T	416;0|13
N	N	-	6	26460170	26460170	C	CCACAGGGAGATTCCACAGGGA	indel	intronic	 	 	 	 	BTN2A1	Btn2a2	ENSG00000112763	butyrophilin subfamily 2 member A1	chr6:26458150-26476849	This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	Lupus Erythematosus, Systemic	 	Butyrophilin (BTN) family interactions	GO:0006629;lipid metabolic process;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/BTN2A1	https://www.uniprot.org/uniprot/Q7KYR7		https://www.ncbi.nlm.nih.gov/omim/?term=613590	http://www.informatics.jax.org/searchtool/Search.do?query=BTN2A1&submit=Quick%0D%4287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTN2A1	rs11267390	0.751198	0	0	1	0	0	intronic	intronic	intronic	BTN2A1	BTN2A1	ENSG00000112763	Na	Na	Na	Na	Na	Na	Het;+CACAGGGAGATTCCACAGGGA	230;9|7	Hom;+CACAGGGAGATTCCACAGGGA	1116;0|25
N	N	-	6	26460254	26460254	T	C	snp	intronic	 	 	 	 	BTN2A1	Btn2a2	ENSG00000112763	butyrophilin subfamily 2 member A1	chr6:26458150-26476849	This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	Lupus Erythematosus, Systemic	 	Butyrophilin (BTN) family interactions	GO:0006629;lipid metabolic process;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/BTN2A1	https://www.uniprot.org/uniprot/Q7KYR7		https://www.ncbi.nlm.nih.gov/omim/?term=613590	http://www.informatics.jax.org/searchtool/Search.do?query=BTN2A1&submit=Quick%0D%4287ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTN2A1	rs2393664	0.751597	0	0	1	0	0	intronic	intronic	intronic	BTN2A1	BTN2A1	ENSG00000112763	Na	Na	Na	Na	Na	Na	Het;T>C	201;6|9	Hom;T>C	533;0|20
N	N	-	6	26839995	26839995	T	C	snp	ncRNA_exonic	 	 	 	 	GUSBP2																		rs3896386	0.958866	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GUSBP2	GUSBP2	ENSG00000241549	Na	Na	Na	Na	Na	Na	Het;T>C	203;78|16	Hom;T>C	2184;0|80
N	N	-	6	26865215	26865215	T	C	snp	ncRNA_exonic	 	 	 	 	POM121L6P																		rs9295713	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	GUSBP2	GUSBP2	ENSG00000243307	Na	Na	Na	Na	Na	Na	Het;T>C	428;36|20	Hom;T>C	1681;0|60
N	N	-	6	28348158	28348158	T	G	snp	UTR3	*2108A>C	 	 	 	ZSCAN12	Zscan12	ENSG00000158691	zinc finger and SCAN domain containing 12	chr6:28346732-28367511			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN12			https://www.ncbi.nlm.nih.gov/omim/?term=603978	http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN12&submit=Quick%0D%10237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN12	rs1052215	0.385982	0	0	1	0	0	intergenic	intergenic	UTR3	ZKSCAN3(dist=11204),ZSCAN12(dist=8569)	ZKSCAN3(dist=11204),ZSCAN12(dist=8569)	ENSG00000158691(ENST00000361028:c.*2108A>C,ENST00000396827:c.*789A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	2414;99|106	Hom;T>G	5318;2|187
N	N	-	6	2836266	2836266	T	A	snp	intronic	 	 	 	 	SERPINB1	Serpinb1a	ENSG00000021355	serpin family B member 1	chr6:2832566-2842240	The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]	Hyperparathyroidism, Secondary; atherosclerosis	Homozygous null mice fail to clear P. aeruginosa lung infection and show increased mortality associated with late-onset failed bacterial clearance, partly due to elevated neutrophil necrosis, release of neutrophil protease activity, higher cytokine production and proteolysis of surfactant protein-D.	Neutrophil degranulation	GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPINB1	https://www.uniprot.org/uniprot/P30740		https://www.ncbi.nlm.nih.gov/omim/?term=130135	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB1&submit=Quick%0D%662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB1	rs385955	0.54992	0.5260	0.5685	1	0	0	intronic	intronic	intronic	SERPINB1	SERPINB1	ENSG00000021355	Na	Na	Na	Na	Na	Na	Het;T>A	1043;99|53	Hom;T>A	3365;1|123
N	N	-	6	2855830	2855830	G	C	snp	ncRNA_exonic	 	 	 	 	SERPINB9P1																		rs375556	0.643171	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SERPINB9P1	MGC39372	ENSG00000230438	Na	Na	Na	Na	Na	Na	Het;G>C	3044;97|125	Hom;G>C	6354;0|222
N	N	-	6	2876535	2876535	G	A	snp	ncRNA_exonic	 	 	 	 	SERPINB9P1																		rs318429	0.484625	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SERPINB9P1	MGC39372	ENSG00000230438	Na	Na	Na	Na	Na	Na	Het;G>A	577;25|28	Hom;G>A	1083;1|40
N	N	-	6	2876577	2876577	T	G	snp	ncRNA_exonic	 	 	 	 	SERPINB9P1																		rs2252077	0.475839	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SERPINB9P1	MGC39372	ENSG00000230438	Na	Na	Na	Na	Na	Na	Het;T>G	1846;38|47	Hom;T>G	3194;0|70
N	N	-	6	2876581	2876581	C	T	snp	ncRNA_exonic	 	 	 	 	SERPINB9P1																		rs2252076	0.782348	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SERPINB9P1	MGC39372	ENSG00000230438	Na	Na	Na	Na	Na	Na	Het;C>T	1843;40|49	Hom;C>T	3170;0|74
N	N	-	6	29840485	29840485	C	T	snp	intronic	 	 	 	 	HLA-G	H2-M3	ENSG00000276051	major histocompatibility complex, class I, G	chr6:29794744-29798902	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Thalassemia; Drug-Induced Liver Injury; Carcinoma, Transitional Cell|Tobacco Use Disorder|Urinary Bladder Neoplasms; Celiac Disease; Abortion, Habitual; pre-eclampsia; Autoimmune Diseases|Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Abortion, Spontaneous; patent ductus arteriosus; pregnancy loss, recurrent; in vitro fertilization success; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney transplant ; HIV Infections|Prenatal Exposure Delayed Effects; pregnancy loss; Pre-Eclampsia; asthma; diabetes, type 1 ; Lupus Erythematosus, Systemic|Photosensitivity Disorders; Anemia, Sickle Cell|Hepatitis C; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; pregnancy loss, recurrent; Fetal Diseases|Infection; HIV; nasopharyngeal cancer; HIV; Lupus Erythematosus, Systemic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; preeclampsia; Behcet's disease; Psoriasis; birth weight; placental weight; multiple sclerosis; Type 2 Diabetes| edema | rosiglitazone; null; normal variation; sarcoidosis; Behcet Syndrome; rheumatoid arthritis; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Immunoglobulin E; eclampsia preeclampsia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Cytomegalovirus Infections|Gastrointestinal Diseases|Hepatitis|Pneumonia|Purpura, Thrombocytopenic, Idiopathic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Cholestasis, Intrahepatic|Pregnancy Complications; Abortion, Habitual|Abortion, Spontaneous; Crohn's disease ulcerative colitis	At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HLA-G			https://www.ncbi.nlm.nih.gov/omim/?term=142871	http://www.informatics.jax.org/searchtool/Search.do?query=HLA-G&submit=Quick%0D%21513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HLA-G	rs76730244	0.112819	0	0	1	0	0	intergenic	intronic	intergenic	HLA-G(dist=41586),HLA-H(dist=15052)	HLA-G,HLA-H	ENSG00000233265(dist=20217),ENSG00000230521(dist=14586)	Na	Na	Na	Na	Na	Na	Het;C>T	90;3|4	Hom;C>T	330;0|13
N	N	-	6	29841097	29841097	T	A	snp	intronic	 	 	 	 	HLA-G	H2-M3	ENSG00000276051	major histocompatibility complex, class I, G	chr6:29794744-29798902	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Thalassemia; Drug-Induced Liver Injury; Carcinoma, Transitional Cell|Tobacco Use Disorder|Urinary Bladder Neoplasms; Celiac Disease; Abortion, Habitual; pre-eclampsia; Autoimmune Diseases|Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Abortion, Spontaneous; patent ductus arteriosus; pregnancy loss, recurrent; in vitro fertilization success; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney transplant ; HIV Infections|Prenatal Exposure Delayed Effects; pregnancy loss; Pre-Eclampsia; asthma; diabetes, type 1 ; Lupus Erythematosus, Systemic|Photosensitivity Disorders; Anemia, Sickle Cell|Hepatitis C; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; pregnancy loss, recurrent; Fetal Diseases|Infection; HIV; nasopharyngeal cancer; HIV; Lupus Erythematosus, Systemic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; preeclampsia; Behcet's disease; Psoriasis; birth weight; placental weight; multiple sclerosis; Type 2 Diabetes| edema | rosiglitazone; null; normal variation; sarcoidosis; Behcet Syndrome; rheumatoid arthritis; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Immunoglobulin E; eclampsia preeclampsia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Cytomegalovirus Infections|Gastrointestinal Diseases|Hepatitis|Pneumonia|Purpura, Thrombocytopenic, Idiopathic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Cholestasis, Intrahepatic|Pregnancy Complications; Abortion, Habitual|Abortion, Spontaneous; Crohn's disease ulcerative colitis	At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HLA-G			https://www.ncbi.nlm.nih.gov/omim/?term=142871	http://www.informatics.jax.org/searchtool/Search.do?query=HLA-G&submit=Quick%0D%21513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HLA-G	rs60788372	0.152955	0	0	1	0	0	intergenic	intronic	intergenic	HLA-G(dist=42198),HLA-H(dist=14440)	HLA-G,HLA-H	ENSG00000233265(dist=20829),ENSG00000230521(dist=13974)	Na	Na	Na	Na	Na	Na	Het;T>A	1569;45|42	Hom;T>A	3402;0|77
N	N	-	6	29841103	29841103	A	G	snp	intronic	 	 	 	 	HLA-G	H2-M3	ENSG00000276051	major histocompatibility complex, class I, G	chr6:29794744-29798902	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Thalassemia; Drug-Induced Liver Injury; Carcinoma, Transitional Cell|Tobacco Use Disorder|Urinary Bladder Neoplasms; Celiac Disease; Abortion, Habitual; pre-eclampsia; Autoimmune Diseases|Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Abortion, Spontaneous; patent ductus arteriosus; pregnancy loss, recurrent; in vitro fertilization success; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney transplant ; HIV Infections|Prenatal Exposure Delayed Effects; pregnancy loss; Pre-Eclampsia; asthma; diabetes, type 1 ; Lupus Erythematosus, Systemic|Photosensitivity Disorders; Anemia, Sickle Cell|Hepatitis C; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; pregnancy loss, recurrent; Fetal Diseases|Infection; HIV; nasopharyngeal cancer; HIV; Lupus Erythematosus, Systemic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; preeclampsia; Behcet's disease; Psoriasis; birth weight; placental weight; multiple sclerosis; Type 2 Diabetes| edema | rosiglitazone; null; normal variation; sarcoidosis; Behcet Syndrome; rheumatoid arthritis; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Immunoglobulin E; eclampsia preeclampsia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Cytomegalovirus Infections|Gastrointestinal Diseases|Hepatitis|Pneumonia|Purpura, Thrombocytopenic, Idiopathic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Cholestasis, Intrahepatic|Pregnancy Complications; Abortion, Habitual|Abortion, Spontaneous; Crohn's disease ulcerative colitis	At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HLA-G			https://www.ncbi.nlm.nih.gov/omim/?term=142871	http://www.informatics.jax.org/searchtool/Search.do?query=HLA-G&submit=Quick%0D%21513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HLA-G	rs60562637	0.152955	0	0	1	0	0	intergenic	intronic	intergenic	HLA-G(dist=42204),HLA-H(dist=14434)	HLA-G,HLA-H	ENSG00000233265(dist=20835),ENSG00000230521(dist=13968)	Na	Na	Na	Na	Na	Na	Het;A>G	1581;47|42	Hom;A>G	3361;0|75
N	N	-	6	29841121	29841121	G	A	snp	intronic	 	 	 	 	HLA-G	H2-M3	ENSG00000276051	major histocompatibility complex, class I, G	chr6:29794744-29798902	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Thalassemia; Drug-Induced Liver Injury; Carcinoma, Transitional Cell|Tobacco Use Disorder|Urinary Bladder Neoplasms; Celiac Disease; Abortion, Habitual; pre-eclampsia; Autoimmune Diseases|Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Abortion, Spontaneous; patent ductus arteriosus; pregnancy loss, recurrent; in vitro fertilization success; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney transplant ; HIV Infections|Prenatal Exposure Delayed Effects; pregnancy loss; Pre-Eclampsia; asthma; diabetes, type 1 ; Lupus Erythematosus, Systemic|Photosensitivity Disorders; Anemia, Sickle Cell|Hepatitis C; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; pregnancy loss, recurrent; Fetal Diseases|Infection; HIV; nasopharyngeal cancer; HIV; Lupus Erythematosus, Systemic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; preeclampsia; Behcet's disease; Psoriasis; birth weight; placental weight; multiple sclerosis; Type 2 Diabetes| edema | rosiglitazone; null; normal variation; sarcoidosis; Behcet Syndrome; rheumatoid arthritis; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Immunoglobulin E; eclampsia preeclampsia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Cytomegalovirus Infections|Gastrointestinal Diseases|Hepatitis|Pneumonia|Purpura, Thrombocytopenic, Idiopathic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Cholestasis, Intrahepatic|Pregnancy Complications; Abortion, Habitual|Abortion, Spontaneous; Crohn's disease ulcerative colitis	At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HLA-G			https://www.ncbi.nlm.nih.gov/omim/?term=142871	http://www.informatics.jax.org/searchtool/Search.do?query=HLA-G&submit=Quick%0D%21513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HLA-G	rs72838626	0.113019	0	0	1	0	0	intergenic	intronic	intergenic	HLA-G(dist=42222),HLA-H(dist=14416)	HLA-G,HLA-H	ENSG00000233265(dist=20853),ENSG00000230521(dist=13950)	Na	Na	Na	Na	Na	Na	Het;G>A	836;47|38	Hom;G>A	1818;0|67
N	N	-	6	29841162	29841162	T	G	snp	intronic	 	 	 	 	HLA-G	H2-M3	ENSG00000276051	major histocompatibility complex, class I, G	chr6:29794744-29798902	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Thalassemia; Drug-Induced Liver Injury; Carcinoma, Transitional Cell|Tobacco Use Disorder|Urinary Bladder Neoplasms; Celiac Disease; Abortion, Habitual; pre-eclampsia; Autoimmune Diseases|Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Abortion, Spontaneous; patent ductus arteriosus; pregnancy loss, recurrent; in vitro fertilization success; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney transplant ; HIV Infections|Prenatal Exposure Delayed Effects; pregnancy loss; Pre-Eclampsia; asthma; diabetes, type 1 ; Lupus Erythematosus, Systemic|Photosensitivity Disorders; Anemia, Sickle Cell|Hepatitis C; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; pregnancy loss, recurrent; Fetal Diseases|Infection; HIV; nasopharyngeal cancer; HIV; Lupus Erythematosus, Systemic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; preeclampsia; Behcet's disease; Psoriasis; birth weight; placental weight; multiple sclerosis; Type 2 Diabetes| edema | rosiglitazone; null; normal variation; sarcoidosis; Behcet Syndrome; rheumatoid arthritis; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Immunoglobulin E; eclampsia preeclampsia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Cytomegalovirus Infections|Gastrointestinal Diseases|Hepatitis|Pneumonia|Purpura, Thrombocytopenic, Idiopathic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Cholestasis, Intrahepatic|Pregnancy Complications; Abortion, Habitual|Abortion, Spontaneous; Crohn's disease ulcerative colitis	At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HLA-G			https://www.ncbi.nlm.nih.gov/omim/?term=142871	http://www.informatics.jax.org/searchtool/Search.do?query=HLA-G&submit=Quick%0D%21513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HLA-G	rs3132711	0.736422	0	0	1	0	0	intergenic	intronic	intergenic	HLA-G(dist=42263),HLA-H(dist=14375)	HLA-G,HLA-H	ENSG00000233265(dist=20894),ENSG00000230521(dist=13909)	Na	Na	Na	Na	Na	Na	Het;T>G	922;42|39	Hom;T>G	1426;1|50
N	N	-	6	29841216	29841217	AT	A	indel	intronic	 	 	 	 	HLA-G	H2-M3	ENSG00000276051	major histocompatibility complex, class I, G	chr6:29794744-29798902	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Thalassemia; Drug-Induced Liver Injury; Carcinoma, Transitional Cell|Tobacco Use Disorder|Urinary Bladder Neoplasms; Celiac Disease; Abortion, Habitual; pre-eclampsia; Autoimmune Diseases|Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Abortion, Spontaneous; patent ductus arteriosus; pregnancy loss, recurrent; in vitro fertilization success; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney transplant ; HIV Infections|Prenatal Exposure Delayed Effects; pregnancy loss; Pre-Eclampsia; asthma; diabetes, type 1 ; Lupus Erythematosus, Systemic|Photosensitivity Disorders; Anemia, Sickle Cell|Hepatitis C; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; pregnancy loss, recurrent; Fetal Diseases|Infection; HIV; nasopharyngeal cancer; HIV; Lupus Erythematosus, Systemic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; preeclampsia; Behcet's disease; Psoriasis; birth weight; placental weight; multiple sclerosis; Type 2 Diabetes| edema | rosiglitazone; null; normal variation; sarcoidosis; Behcet Syndrome; rheumatoid arthritis; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Immunoglobulin E; eclampsia preeclampsia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Cytomegalovirus Infections|Gastrointestinal Diseases|Hepatitis|Pneumonia|Purpura, Thrombocytopenic, Idiopathic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Cholestasis, Intrahepatic|Pregnancy Complications; Abortion, Habitual|Abortion, Spontaneous; Crohn's disease ulcerative colitis	At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HLA-G			https://www.ncbi.nlm.nih.gov/omim/?term=142871	http://www.informatics.jax.org/searchtool/Search.do?query=HLA-G&submit=Quick%0D%21513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HLA-G	rs56213322	0.826278	0	0	1	0	0	intergenic	intronic	intergenic	HLA-G(dist=42317),HLA-H(dist=14320)	HLA-G,HLA-H	ENSG00000233265(dist=20948),ENSG00000230521(dist=13854)	Na	Na	Na	Na	Na	Na	Het;-T	1401;37|45	Hom;-T	1797;0|49
N	N	-	6	29841330	29841330	G	A	snp	intronic	 	 	 	 	HLA-G	H2-M3	ENSG00000276051	major histocompatibility complex, class I, G	chr6:29794744-29798902	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]	Graft vs Host Disease|Thalassemia; Drug-Induced Liver Injury; Carcinoma, Transitional Cell|Tobacco Use Disorder|Urinary Bladder Neoplasms; Celiac Disease; Abortion, Habitual; pre-eclampsia; Autoimmune Diseases|Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Abortion, Spontaneous; patent ductus arteriosus; pregnancy loss, recurrent; in vitro fertilization success; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; kidney transplant ; HIV Infections|Prenatal Exposure Delayed Effects; pregnancy loss; Pre-Eclampsia; asthma; diabetes, type 1 ; Lupus Erythematosus, Systemic|Photosensitivity Disorders; Anemia, Sickle Cell|Hepatitis C; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; pregnancy loss, recurrent; Fetal Diseases|Infection; HIV; nasopharyngeal cancer; HIV; Lupus Erythematosus, Systemic; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; preeclampsia; Behcet's disease; Psoriasis; birth weight; placental weight; multiple sclerosis; Type 2 Diabetes| edema | rosiglitazone; null; normal variation; sarcoidosis; Behcet Syndrome; rheumatoid arthritis; Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome; Immunoglobulin E; eclampsia preeclampsia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Cytomegalovirus Infections|Gastrointestinal Diseases|Hepatitis|Pneumonia|Purpura, Thrombocytopenic, Idiopathic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Cholestasis, Intrahepatic|Pregnancy Complications; Abortion, Habitual|Abortion, Spontaneous; Crohn's disease ulcerative colitis	At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HLA-G			https://www.ncbi.nlm.nih.gov/omim/?term=142871	http://www.informatics.jax.org/searchtool/Search.do?query=HLA-G&submit=Quick%0D%21513ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HLA-G	rs114262395	0.113219	0	0	1	0	0	intergenic	intronic	intergenic	HLA-G(dist=42431),HLA-H(dist=14207)	HLA-G,HLA-H	ENSG00000233265(dist=21062),ENSG00000230521(dist=13741)	Na	Na	Na	Na	Na	Na	Het;G>A	161;15|9	Hom;G>A	316;0|10
N	N	-	6	3264671	3264671	T	C	snp	UTR3	*613T>C	 	 	 	PSMG4	Psmg4	ENSG00000180822	proteasome assembly chaperone 4	chr6:3231637-3303607			 		GO:0043248;proteasome assembly;IEA			http://www.genecards.org/index.php?path=/Search/keyword/PSMG4				http://www.informatics.jax.org/searchtool/Search.do?query=PSMG4&submit=Quick%0D%14532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG4	rs13193012	0.722444	0	0	1	0	0	intronic	ncRNA_intronic	UTR3	PSMG4	AK096219	ENSG00000180822(ENST00000473000:c.*613T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	141;9|6	Hom;T>C	652;0|22
N	N	-	6	3269147	3269147	G	A	snp	downstream	 	 	 	 	PSMG4	Psmg4	ENSG00000180822	proteasome assembly chaperone 4	chr6:3231637-3303607			 		GO:0043248;proteasome assembly;IEA			http://www.genecards.org/index.php?path=/Search/keyword/PSMG4				http://www.informatics.jax.org/searchtool/Search.do?query=PSMG4&submit=Quick%0D%14532ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG4	rs6596962	0.80611	0	0	1	0	0	downstream	ncRNA_intronic	intronic	PSMG4,SLC22A23	AK096219	ENSG00000180822	Na	Na	Na	Na	Na	Na	Het;G>A	77;8|4	Hom;G>A	314;0|10
N	N	-	6	3269409	3269409	G	GC	indel	UTR3	*3880C>GC	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs11376511	0.804513	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	SLC22A23(NM_015482:c.*3880C>GC,NM_021945:c.*3880C>GC,NM_001286455:c.*3880C>GC)	AK096219	ENSG00000137266(ENST00000436008:c.*3880C>GC)	Na	Na	Na	Na	Na	Na	Het;+C	3540;134|138	Hom;+C	6639;0|214
N	N	-	6	3269894	3269894	C	CAG	indel	UTR3	*3395G>CTG	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs397762489	0.800919	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	SLC22A23(NM_015482:c.*3395G>CTG,NM_021945:c.*3395G>CTG,NM_001286455:c.*3395G>CTG)	AK096219	ENSG00000137266(ENST00000436008:c.*3395G>CTG,ENST00000406686:c.*3395G>CTG),ENSG00000180822(ENST00000509933:c.*272C>CAG)	Na	Na	Na	Na	Na	Na	Het;+AG	3609;135|96	Hom;+AG	5389;4|183
N	N	-	6	3270048	3270048	C	G	snp	UTR3	*3241G>C	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs3813488	0.800519	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	SLC22A23(NM_015482:c.*3241G>C,NM_021945:c.*3241G>C,NM_001286455:c.*3241G>C)	AK096219	ENSG00000137266(ENST00000436008:c.*3241G>C,ENST00000406686:c.*3241G>C),ENSG00000180822(ENST00000509933:c.*426C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1342;124|69	Hom;C>G	5580;0|202
N	N	-	6	3270064	3270064	T	C	snp	UTR3	*3225A>G	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs3813487	0.788339	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	SLC22A23(NM_015482:c.*3225A>G,NM_021945:c.*3225A>G,NM_001286455:c.*3225A>G)	AK096219	ENSG00000137266(ENST00000436008:c.*3225A>G,ENST00000406686:c.*3225A>G),ENSG00000180822(ENST00000509933:c.*442T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1235;114|65	Hom;T>C	4757;0|175
N	N	-	6	3270105	3270105	C	T	snp	UTR3	*3184G>A	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs3813486	0.80012	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	SLC22A23(NM_015482:c.*3184G>A,NM_021945:c.*3184G>A,NM_001286455:c.*3184G>A)	AK096219	ENSG00000137266(ENST00000436008:c.*3184G>A,ENST00000406686:c.*3184G>A),ENSG00000180822(ENST00000509933:c.*483C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1006;104|55	Hom;C>T	3825;0|138
N	N	-	6	3270121	3270121	T	C	snp	UTR3	*3168A>G	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs3813485	0.763578	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	SLC22A23(NM_015482:c.*3168A>G,NM_021945:c.*3168A>G,NM_001286455:c.*3168A>G)	AK096219	ENSG00000137266(ENST00000436008:c.*3168A>G,ENST00000406686:c.*3168A>G),ENSG00000180822(ENST00000509933:c.*499T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1009;93|52	Hom;T>C	3356;0|115
N	N	-	6	3270510	3270510	G	C	snp	UTR3	*2779C>G	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs1127477	0.798522	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	SLC22A23(NM_015482:c.*2779C>G,NM_021945:c.*2779C>G,NM_001286455:c.*2779C>G)	AK096219	ENSG00000137266(ENST00000436008:c.*2779C>G,ENST00000406686:c.*2779C>G),ENSG00000180822(ENST00000509933:c.*888G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1680;72|72	Hom;G>C	4410;0|152
N	N	-	6	33543374	33543377	CAGG	C	indel	intronic	 	 	 	 	BAK1	Bak1	ENSG00000030110	BCL2 antagonist/killer 1	chr6:33540329-33548019	The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]	chronic obstructive pulmonary disease; lung cancer; bladder cancer; Platelet Count; esophageal adenocarcinoma; hematological parameters; Chronic renal failure|Kidney Failure, Chronic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Testicular Neoplasms; Lymphoma, Non-Hodgkin; lymphoproliferative disorders; Leukemia, Lymphocytic, Chronic, B-Cell; lung cancer ; Acquired Immunodeficiency Syndrome|Disease Progression; testicular germ cell tumor; null; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene does not result in a phenotype.	Activation and oligomerization of BAK protein	GO:0001776;leukocyte homeostasis;IEA|GO:0001782;B cell homeostasis;IEA|GO:0001783;B cell apoptotic process;IEA|GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0001974;blood vessel remodeling;IEA|GO:0002262;myeloid cell homeostasis;IEA|GO:0002352;B cell negative selection;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006987;activation of signaling protein activity involved in unfolded protein response;TAS|GO:0007420;brain development;IEA|GO:0007568;aging;IEA|GO:0008053;mitochondrial fusion;IEA|GO:0008283;cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;IEA|GO:0009620;response to fungus;IEA|GO:0010046;response to mycotoxin;IEA|GO:0010225;response to UV-C;IEA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IDA|GO:0010332;response to gamma radiation;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019835;cytolysis;IMP|GO:0031018;endocrine pancreas development;IEA|GO:0031100;animal organ regeneration;IEA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;TAS|GO:0032471;negative regulation of endoplasmic reticulum calcium ion concentration;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IEA|GO:0034644;cellular response to UV;IMP|GO:0035108;limb morphogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043496;regulation of protein homodimerization activity;IDA|GO:0043497;regulation of protein heterodimerization activity;IDA|GO:0044346;fibroblast apoptotic process;IEA|GO:0045471;response to ethanol;IEA|GO:0045862;positive regulation of proteolysis;IDA|GO:0046902;regulation of mitochondrial membrane permeability;IDA|GO:0048597;post-embryonic camera-type eye morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0051881;regulation of mitochondrial membrane potential;IDA|GO:0060068;vagina development;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;TAS|GO:0070242;thymocyte apoptotic process;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097190;apoptotic signaling pathway;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097202;activation of cysteine-type endopeptidase activity;IDA|GO:1900103;positive regulation of endoplasmic reticulum unfolded protein response;IMP|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902262;apoptotic process involved in blood vessel morphogenesis;IEA|GO:1903896;positive regulation of IRE1-mediated unfolded protein response;TAS	GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031307;integral component of mitochondrial outer membrane;ISS|GO:0031966;mitochondrial membrane;IEA|GO:0046930;pore complex;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0051087;chaperone binding;IEA|GO:0051400;BH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BAK1	https://www.uniprot.org/uniprot/Q16611		https://www.ncbi.nlm.nih.gov/omim/?term=600516	http://www.informatics.jax.org/searchtool/Search.do?query=BAK1&submit=Quick%0D%737ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAK1	rs5745591	0.190495	0	0	1	0	0	intronic	intronic	intronic	BAK1	BAK1	ENSG00000030110	Na	Na	Na	Na	Na	Na	Het;-AGG	86;1|3	Hom;-AGG	188;0|5
N	N	-	6	3367135	3367135	T	C	snp	intronic	 	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs1556069	0.716653	0	0	1	0	0	intronic	intronic	intronic	SLC22A23	SLC22A23	ENSG00000137266	Na	Na	Na	Na	Na	Na	Het;T>C	69;3|3	Hom;T>C	94;0|3
N	N	-	6	3367318	3367318	T	C	snp	intronic	 	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs1556070	0.716853	0	0	1	0	0	intronic	intronic	intronic	SLC22A23	SLC22A23	ENSG00000137266	Na	Na	Na	Na	Na	Na	Het;T>C	745;49|38	Hom;T>C	2089;2|80
N	N	-	6	3376492	3376492	C	T	snp	intronic	 	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs913533	0.242212	0	0	1	0	0	intronic	intronic	intronic	SLC22A23	SLC22A23	ENSG00000137266	Na	Na	Na	Na	Na	Na	Het;C>T	115;9|7	Hom;C>T	740;0|29
N	N	-	6	34008006	34008006	A	G	snp	synonymous SNV	T1107C	D369D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	GRM4	Grm4	ENSG00000124493	glutamate metabotropic receptor 4	chr6:33989628-34123399	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]	Bipolar Disorder; Creatinine; epilepsy; Epilepsy, Absence|Epilepsy, Generalized|Epilepsy, Reflex|Myoclonic Epilepsy, Juvenile; Alcoholism; schizophrenia; schizoaffective disorder; bipolar disorder; Weight Gain; schizophrenia; several psychiatric disorders	Homozygous mutation of theis gene results in impaired motor learning, and reduced paired-pulse facilitation and post-tetanic potential.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0000187;activation of MAPK activity;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IMP|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0043410;positive regulation of MAPK cascade;IEP|GO:0043523;regulation of neuron apoptotic process;TAS|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA	GO:0005622;intracellular;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042734;presynaptic membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008066;glutamate receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRM4	https://www.uniprot.org/uniprot/Q14833		https://www.ncbi.nlm.nih.gov/omim/?term=604100	http://www.informatics.jax.org/searchtool/Search.do?query=GRM4&submit=Quick%0D%5667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM4	rs2229900	0.482628	0.3861	0.3211	1	0	0	exonic	exonic	exonic	GRM4	GRM4	ENSG00000124493	synonymous SNV	synonymous SNV	unknown	GRM4:NM_001282847:exon7:c.T531C:p.D177D,GRM4:NM_001256809:exon6:c.T1107C:p.D369D,GRM4:NM_000841:exon8:c.T1455C:p.D485D,GRM4:NM_001256811:exon7:c.T1314C:p.D438D,GRM4:NM_001256813:exon8:c.T1056C:p.D352D,GRM4:NM_001256812:exon7:c.T948C:p.D316D,	GRM4:uc031som.1:exon6:c.T1107C:p.D369D,GRM4:uc010jvi.4:exon7:c.T531C:p.D177D,GRM4:uc011dsl.3:exon7:c.T1035C:p.D345D,GRM4:uc011dsn.3:exon7:c.T1314C:p.D438D,GRM4:uc031sol.1:exon6:c.T531C:p.D177D,GRM4:uc003oio.4:exon5:c.T531C:p.D177D,GRM4:uc010jvh.4:exon8:c.T1455C:p.D485D,GRM4:uc011dsm.3:exon7:c.T948C:p.D316D,GRM4:uc003oiq.4:exon8:c.T1056C:p.D352D,	UNKNOWN	Het;A>G	2597;114|119	Hom;A>G	5284;2|193
N	N	-	6	34078463	34078463	G	A	snp	UTR5	-15C>T	 	 	 	GRM4	Grm4	ENSG00000124493	glutamate metabotropic receptor 4	chr6:33989628-34123399	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]	Bipolar Disorder; Creatinine; epilepsy; Epilepsy, Absence|Epilepsy, Generalized|Epilepsy, Reflex|Myoclonic Epilepsy, Juvenile; Alcoholism; schizophrenia; schizoaffective disorder; bipolar disorder; Weight Gain; schizophrenia; several psychiatric disorders	Homozygous mutation of theis gene results in impaired motor learning, and reduced paired-pulse facilitation and post-tetanic potential.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0000187;activation of MAPK activity;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IMP|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0043410;positive regulation of MAPK cascade;IEP|GO:0043523;regulation of neuron apoptotic process;TAS|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA	GO:0005622;intracellular;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042734;presynaptic membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008066;glutamate receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRM4	https://www.uniprot.org/uniprot/Q14833		https://www.ncbi.nlm.nih.gov/omim/?term=604100	http://www.informatics.jax.org/searchtool/Search.do?query=GRM4&submit=Quick%0D%5667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM4	rs744102	0.596845	0	0.5516	1	0	0	UTR5	UTR5	UTR5	GRM4(NM_001256812:c.-15C>T)	GRM4(uc011dsm.3:c.-15C>T)	ENSG00000124493(ENST00000544773:c.-15C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	2275;138|122	Hom;G>A	6814;3|266
N	N	-	6	34165721	34165721	A	G	snp	intergenic	 	 	 	 	KRT18P9																		rs7742369	0.303714	0	0	1	0	0	intergenic	intergenic	intergenic	GRM4(dist=42322),HMGA1(dist=38856)	GRM4(dist=42322),HMGA1(dist=38856)	ENSG00000271231(dist=6865),ENSG00000214810(dist=21495)	Na	Na	Na	Na	Na	Na	Het;A>G	81;7|6	Hom;A>G	152;0|6
N	N	-	6	34210470	34210470	A	AC	indel	intronic	 	 	 	 	HMGA1	Hmga1-rs1	ENSG00000137309	high mobility group AT-hook 1	chr6:34204650-34214008	This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]	Type 2 Diabetes| edema | rosiglitazone; Alcoholism; Type 2 diabetes; height; Tobacco Use Disorder; Height	Although haploinsufficiency at this locus is not compatible with germline transmission of one allele at this locus, mice homozygous for two other disruptions are fertile. Abnormalities are seen in glucose metabolism and in the cardiovascular system.	Formation of Senescence-Associated Heterochromatin Foci (SAHF)	GO:0006268;DNA unwinding involved in DNA replication;NAS|GO:0006284;base-excision repair;IBA|GO:0006337;nucleosome disassembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006461;protein complex assembly;TAS|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009615;response to virus;IEP|GO:0016032;viral process;IEA|GO:0031936;negative regulation of chromatin silencing;TAS|GO:0035986;senescence-associated heterochromatin focus assembly;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0051169;nuclear transport;TAS|GO:0075713;establishment of integrated proviral latency;TAS|GO:0090402;oncogene-induced cell senescence;IDA|GO:2000774;positive regulation of cellular senescence;IMP|GO:0006268;DNA unwinding involved in DNA replication;NAS|GO:0006284;base-excision repair;IBA|GO:0006337;nucleosome disassembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006461;protein complex assembly;TAS|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009615;response to virus;IEP|GO:0016032;viral process;IEA|GO:0031936;negative regulation of chromatin silencing;TAS|GO:0035986;senescence-associated heterochromatin focus assembly;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0051169;nuclear transport;TAS|GO:0075713;establishment of integrated proviral latency;TAS|GO:0090402;oncogene-induced cell senescence;IDA|GO:2000774;positive regulation of cellular senescence;IMP	GO:0000785;chromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0035985;senescence-associated heterochromatin focus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS	GO:0001158;enhancer sequence-specific DNA binding;IDA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0003677;DNA binding;TAS|GO:0003680;AT DNA binding;IDA|GO:0003682;chromatin binding;ISS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0003906;DNA-(apurinic or apyrimidinic site) lyase activity;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0019899;enzyme binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IMP|GO:0042974;retinoic acid receptor binding;IDA|GO:0042975;peroxisome proliferator activated receptor binding;IDA|GO:0046965;retinoid X receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HMGA1	https://www.uniprot.org/uniprot/P17096		https://www.ncbi.nlm.nih.gov/omim/?term=600701	http://www.informatics.jax.org/searchtool/Search.do?query=HMGA1&submit=Quick%0D%157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGA1	rs139876191	0.0800719	0.0388	0.0817	1	0	0	intronic	intronic	intronic	HMGA1	HMGA1	ENSG00000137309	Na	Na	Na	Na	Na	Na	Het;+C	178;5|8	Hom;+C	409;0|14
N	N	-	6	34214670	34214670	A	G	snp	intronic	 	 	 	 	C6orf1	 																	rs4711389	0.0786741	0.0356	0.0662	1	0	0	intronic	intronic	intronic	C6orf1	C6orf1	ENSG00000186577	Na	Na	Na	Na	Na	Na	Het;A>G	1043;39|42	Hom;A>G	2085;0|64
N	N	-	6	34215221	34215221	G	A	snp	intronic	 	 	 	 	C6orf1	 																	rs928482	0.17472	0.1286	0.1599	1	0	0	intronic	intronic	intronic	C6orf1	C6orf1	ENSG00000186577	Na	Na	Na	Na	Na	Na	Het;G>A	1529;36|67	Hom;G>A	3294;0|124
N	N	-	6	3444970	3444970	G	A	snp	intronic	 	 	 	 	SLC22A23	Slc22a23	ENSG00000137266	solute carrier family 22 member 23	chr6:3269196-3457256	SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]	Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23	https://www.uniprot.org/uniprot/A1A5C7		https://www.ncbi.nlm.nih.gov/omim/?term=611697	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23	rs729131	0.829473	0	0	1	0	0	intronic	intronic	intronic	SLC22A23	SLC22A23	ENSG00000137266	Na	Na	Na	Na	Na	Na	Het;G>A	142;4|6	Hom;G>A	502;0|14
N	N	-	6	35474073	35474073	C	G	snp	intronic	 	 	 	 	TULP1	Tulp1	ENSG00000112041	tubby like protein 1	chr6:35465651-35480715	This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with juvenile retinitis pigmentosa and Leber congenital amaurosis-15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Retinal Diseases; Waist Circumference; Retinitis Pigmentosa	Homozygous mutant mice exhibit retinal degeneration.		GO:0001895;retina homeostasis;IMP|GO:0006909;phagocytosis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0007601;visual perception;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0016358;dendrite development;ISS|GO:0042462;eye photoreceptor cell development;ISS|GO:0045494;photoreceptor cell maintenance;ISS|GO:0050766;positive regulation of phagocytosis;IDA|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0060041;retina development in camera-type eye;IEA|GO:0097500;receptor localization to non-motile cilium;IBA|GO:1903546;protein localization to photoreceptor outer segment;IBA	GO:0001750;photoreceptor outer segment;ISS|GO:0001917;photoreceptor inner segment;ISS|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IDA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TULP1	https://www.uniprot.org/uniprot/O00294	https://hpo.jax.org/app/browse/search?q=TULP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602280	http://www.informatics.jax.org/searchtool/Search.do?query=TULP1&submit=Quick%0D%4173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TULP1	rs12215920	0.298323	0.2518	0.3447	1	0	0	intronic	intronic	intronic	TULP1	TULP1	ENSG00000112041	Na	Na	Na	Na	Na	Na	Het;C>G	639;16|29	Hom;C>G	1132;2|43
N	N	-	6	35478612	35478612	G	A	snp	intronic	 	 	 	 	TULP1	Tulp1	ENSG00000112041	tubby like protein 1	chr6:35465651-35480715	This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with juvenile retinitis pigmentosa and Leber congenital amaurosis-15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]	Retinal Diseases; Waist Circumference; Retinitis Pigmentosa	Homozygous mutant mice exhibit retinal degeneration.		GO:0001895;retina homeostasis;IMP|GO:0006909;phagocytosis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0007601;visual perception;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0016358;dendrite development;ISS|GO:0042462;eye photoreceptor cell development;ISS|GO:0045494;photoreceptor cell maintenance;ISS|GO:0050766;positive regulation of phagocytosis;IDA|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0060041;retina development in camera-type eye;IEA|GO:0097500;receptor localization to non-motile cilium;IBA|GO:1903546;protein localization to photoreceptor outer segment;IBA	GO:0001750;photoreceptor outer segment;ISS|GO:0001917;photoreceptor inner segment;ISS|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IDA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TULP1	https://www.uniprot.org/uniprot/O00294	https://hpo.jax.org/app/browse/search?q=TULP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602280	http://www.informatics.jax.org/searchtool/Search.do?query=TULP1&submit=Quick%0D%4173ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TULP1	rs2273001	0.654752	0.6433	0.6891	1	0	0	intronic	intronic	intronic	TULP1	TULP1	ENSG00000112041	Na	Na	Na	Na	Na	Na	Het;G>A	1957;75|93	Hom;G>A	4679;0|181
N	N	-	6	35694926	35694926	G	A	snp	ncRNA_intronic	 	 	 	 	LOC285847																		rs10947565	0.101238	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	LOC285847	LOC285847	ENSG00000096060	Na	Na	Na	Na	Na	Na	Het;G>A	630;34|26	Hom;G>A	2111;2|76
N	N	-	6	35704612	35704612	G	C	snp	ncRNA_intronic	 	 	 	 	LOC285847																		rs2817039	0.353834	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC285847	LOC285847	ENSG00000232909	Na	Na	Na	Na	Na	Na	Het;G>C	45;2|2	Hom;G>C	344;0|13
N	N	-	6	35704831	35704831	C	G	snp	UTR5	-55C>G	 	 	 	ARMC12	Armc12	ENSG00000157343	armadillo repeat containing 12	chr6:35704809-35716856		Lipoproteins, HDL	 			GO:0005634;nucleus;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ARMC12				http://www.informatics.jax.org/searchtool/Search.do?query=ARMC12&submit=Quick%0D%10083ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC12	rs56354119	0.0836661	0	0	1	0	0	UTR5	upstream	UTR5	ARMC12(NM_145028:c.-55C>G,NM_001286576:c.-55C>G,NM_001286574:c.-55C>G)	ARMC12,LOC285847	ENSG00000157343(ENST00000373869:c.-55C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	986;22|39	Hom;C>G	1084;0|38
N	N	-	6	35705142	35705142	A	G	snp	intronic	 	 	 	 	ARMC12	Armc12	ENSG00000157343	armadillo repeat containing 12	chr6:35704809-35716856		Lipoproteins, HDL	 			GO:0005634;nucleus;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ARMC12				http://www.informatics.jax.org/searchtool/Search.do?query=ARMC12&submit=Quick%0D%10083ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC12	rs12193672	0.0836661	0.1204	0.1415	1	0	0	intronic	intronic	intronic	ARMC12	ARMC12	ENSG00000157343	Na	Na	Na	Na	Na	Na	Het;A>G	1235;50|51	Hom;A>G	3081;2|111
N	N	-	6	36562021	36562021	G	C	snp	upstream	 	 	 	 	SRSF3	Srsf3	ENSG00000112081	serine and arginine rich splicing factor 3	chr6:36562145-36573377	The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]	Heart Function Tests; Basophils; Glaucoma, Open-Angle; Electrocardiography	Homozygous mutant mice die at early embryonic stages.	mRNA 3'-end processing	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0048024;regulation of mRNA splicing, via spliceosome;IDA|GO:0051028;mRNA transport;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:1990825;sequence-specific mRNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SRSF3	https://www.uniprot.org/uniprot/P84103		https://www.ncbi.nlm.nih.gov/omim/?term=603364	http://www.informatics.jax.org/searchtool/Search.do?query=SRSF3&submit=Quick%0D%4179ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRSF3	rs1076931	0.219649	0	0	1	0	0	upstream	upstream	upstream	SRSF3	SRSF3	ENSG00000112081	Na	Na	Na	Na	Na	Na	Het;G>C	267;2|9	Hom;G>C	433;0|14
N	N	-	6	36562043	36562043	A	AC	indel	upstream	 	 	 	 	SRSF3	Srsf3	ENSG00000112081	serine and arginine rich splicing factor 3	chr6:36562145-36573377	The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]	Heart Function Tests; Basophils; Glaucoma, Open-Angle; Electrocardiography	Homozygous mutant mice die at early embryonic stages.	mRNA 3'-end processing	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0048024;regulation of mRNA splicing, via spliceosome;IDA|GO:0051028;mRNA transport;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:1990825;sequence-specific mRNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SRSF3	https://www.uniprot.org/uniprot/P84103		https://www.ncbi.nlm.nih.gov/omim/?term=603364	http://www.informatics.jax.org/searchtool/Search.do?query=SRSF3&submit=Quick%0D%4179ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRSF3	rs5875549	0.477835	0	0	1	0	0	upstream	upstream	upstream	SRSF3	SRSF3	ENSG00000112081	Na	Na	Na	Na	Na	Na	Het;+C	478;2|14	Hom;+C	820;0|21
N	N	-	6	3738268	3738269	GC	G	indel	intronic	 	 	 	 	PXDC1	Pxdc1	ENSG00000168994	PX domain containing 1	chr6:3722848-3752260			 				GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PXDC1				http://www.informatics.jax.org/searchtool/Search.do?query=PXDC1&submit=Quick%0D%12392ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PXDC1	rs3215783	0.350839	0.3520	0.3541	1	0	0	intronic	intronic	intronic	PXDC1	PXDC1	ENSG00000168994	Na	Na	Na	Na	Na	Na	Het;-C	723;27|27	Hom;-C	1484;0|44
N	N	-	6	37445500	37445506	TGGGTCG	T	indel	intronic	 	 	 	 	CMTR1	Cmtr1	ENSG00000137200	cap methyltransferase 1	chr6:37400995-37450603		Myocardial Infarction	 		GO:0006370;7-methylguanosine mRNA capping;IEA|GO:0006397;mRNA processing;IEA|GO:0032259;methylation;IEA|GO:0080009;mRNA methylation;IEA|GO:0097309;cap1 mRNA methylation;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004483;mRNA (nucleoside-2'-O-)-methyltransferase activity;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CMTR1	https://www.uniprot.org/uniprot/Q8N1G2		https://www.ncbi.nlm.nih.gov/omim/?term=616189	http://www.informatics.jax.org/searchtool/Search.do?query=CMTR1&submit=Quick%0D%7493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CMTR1	Na	0	0	0	1	0	0	intronic	intronic	intronic	CMTR1	FTSJD2	ENSG00000137200	Na	Na	Na	Na	Na	Na	Het;-GGGTCG	1051;2|27	Hom;-GGGTCG	540;1|14
N	N	-	6	37501967	37501967	A	G	snp	ncRNA_intronic	 	 	 	 	LOC100505530																		rs2797786	0.729633	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC100505530	CCDC167(dist=34267),MIR4462(dist=21174)	ENSG00000204110	Na	Na	Na	Na	Na	Na	Het;A>G	32;2|2	Hom;A>G	160;0|6
N	N	-	6	37788004	37788004	T	C	snp	intronic	 	 	 	 	ZFAND3	Zfand3	ENSG00000156639	zinc finger AN1-type containing 3	chr6:37787275-38122400		Tobacco Use Disorder; Alcoholism; Insulin Resistance; Diabetes Mellitus, Type 2	 				GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAND3	https://www.uniprot.org/uniprot/Q9H8U3		https://www.ncbi.nlm.nih.gov/omim/?term=607455	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAND3&submit=Quick%0D%10004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAND3	rs77714510	0.277356	0	0	1	0	0	intronic	intronic	intronic	ZFAND3	ZFAND3	ENSG00000156639	Na	Na	Na	Na	Na	Na	Het;T>C	87;3|5	Hom;T>C	142;0|5
N	N	-	6	37788048	37788048	C	T	snp	intronic	 	 	 	 	ZFAND3	Zfand3	ENSG00000156639	zinc finger AN1-type containing 3	chr6:37787275-38122400		Tobacco Use Disorder; Alcoholism; Insulin Resistance; Diabetes Mellitus, Type 2	 				GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAND3	https://www.uniprot.org/uniprot/Q9H8U3		https://www.ncbi.nlm.nih.gov/omim/?term=607455	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAND3&submit=Quick%0D%10004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAND3	rs115773136	0.186502	0	0	1	0	0	intronic	intronic	intronic	ZFAND3	ZFAND3	ENSG00000156639	Na	Na	Na	Na	Na	Na	Het;C>T	90;4|6	Hom;C>T	80;0|5
N	N	-	6	38913177	38913177	A	G	snp	ncRNA_intronic	 	 	 	 	LOC100131047																		rs522327	0.633387	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100131047	LOC100131047	ENSG00000231150	Na	Na	Na	Na	Na	Na	Het;A>G	81;13|4	Hom;A>G	431;0|16
N	N	-	6	39034195	39034195	A	C	snp	intronic	 	 	 	 	GLP1R	Glp1r	ENSG00000112164	glucagon like peptide 1 receptor	chr6:39016574-39055519	This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]	diabetes, type 2; adiposity; Type 2 Diabetes| edema | rosiglitazone; longevity; Bulimia	Glucose tolerance and pancreatic secretion is impaired in homozygous null mice.	Glucagon-type ligand receptors	GO:0006950;response to stress;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007611;learning or memory;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0019933;cAMP-mediated signaling;IDA|GO:0045777;positive regulation of blood pressure;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0071377;cellular response to glucagon stimulus;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004967;glucagon receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLP1R	https://www.uniprot.org/uniprot/P43220		https://www.ncbi.nlm.nih.gov/omim/?term=138032	http://www.informatics.jax.org/searchtool/Search.do?query=GLP1R&submit=Quick%0D%4192ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLP1R	rs4711571	0.259185	0	0	1	0	0	intronic	intronic	intronic	GLP1R	GLP1R	ENSG00000112164	Na	Na	Na	Na	Na	Na	Het;A>C	303;5|10	Hom;A>C	466;0|12
N	N	-	6	39046644	39046644	A	C	snp	intronic	 	 	 	 	GLP1R	Glp1r	ENSG00000112164	glucagon like peptide 1 receptor	chr6:39016574-39055519	This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]	diabetes, type 2; adiposity; Type 2 Diabetes| edema | rosiglitazone; longevity; Bulimia	Glucose tolerance and pancreatic secretion is impaired in homozygous null mice.	Glucagon-type ligand receptors	GO:0006950;response to stress;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007611;learning or memory;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0019933;cAMP-mediated signaling;IDA|GO:0045777;positive regulation of blood pressure;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0071377;cellular response to glucagon stimulus;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004967;glucagon receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLP1R	https://www.uniprot.org/uniprot/P43220		https://www.ncbi.nlm.nih.gov/omim/?term=138032	http://www.informatics.jax.org/searchtool/Search.do?query=GLP1R&submit=Quick%0D%4192ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLP1R	rs742762	0.202676	0	0	1	0	0	intronic	intronic	intronic	GLP1R	GLP1R	ENSG00000112164	Na	Na	Na	Na	Na	Na	Het;A>C	397;9|10	Hom;A>C	692;0|16
N	N	-	6	39046655	39046655	C	T	snp	intronic	 	 	 	 	GLP1R	Glp1r	ENSG00000112164	glucagon like peptide 1 receptor	chr6:39016574-39055519	This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]	diabetes, type 2; adiposity; Type 2 Diabetes| edema | rosiglitazone; longevity; Bulimia	Glucose tolerance and pancreatic secretion is impaired in homozygous null mice.	Glucagon-type ligand receptors	GO:0006950;response to stress;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007611;learning or memory;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0019933;cAMP-mediated signaling;IDA|GO:0045777;positive regulation of blood pressure;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0071377;cellular response to glucagon stimulus;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004967;glucagon receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLP1R	https://www.uniprot.org/uniprot/P43220		https://www.ncbi.nlm.nih.gov/omim/?term=138032	http://www.informatics.jax.org/searchtool/Search.do?query=GLP1R&submit=Quick%0D%4192ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLP1R	rs742761	0.127796	0	0	1	0	0	intronic	intronic	intronic	GLP1R	GLP1R	ENSG00000112164	Na	Na	Na	Na	Na	Na	Het;C>T	458;10|13	Hom;C>T	808;0|20
N	N	-	6	39054113	39054113	G	A	snp	UTR3	*264G>A	 	 	 	GLP1R	Glp1r	ENSG00000112164	glucagon like peptide 1 receptor	chr6:39016574-39055519	This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]	diabetes, type 2; adiposity; Type 2 Diabetes| edema | rosiglitazone; longevity; Bulimia	Glucose tolerance and pancreatic secretion is impaired in homozygous null mice.	Glucagon-type ligand receptors	GO:0006950;response to stress;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007611;learning or memory;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0019933;cAMP-mediated signaling;IDA|GO:0045777;positive regulation of blood pressure;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0071377;cellular response to glucagon stimulus;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004967;glucagon receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLP1R	https://www.uniprot.org/uniprot/P43220		https://www.ncbi.nlm.nih.gov/omim/?term=138032	http://www.informatics.jax.org/searchtool/Search.do?query=GLP1R&submit=Quick%0D%4192ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLP1R	rs10305512	0.124401	0	0	1	0	0	UTR3	UTR3	UTR3	GLP1R(NM_002062:c.*264G>A)	GLP1R(uc003ooj.4:c.*264G>A)	ENSG00000112164(ENST00000373256:c.*264G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	780;43|40	Hom;G>A	1846;0|67
N	N	-	6	39056924	39056924	A	G	snp	intergenic	 	 	 	 	GLP1R	Glp1r	ENSG00000112164	glucagon like peptide 1 receptor	chr6:39016574-39055519	This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]	diabetes, type 2; adiposity; Type 2 Diabetes| edema | rosiglitazone; longevity; Bulimia	Glucose tolerance and pancreatic secretion is impaired in homozygous null mice.	Glucagon-type ligand receptors	GO:0006950;response to stress;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007611;learning or memory;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0019933;cAMP-mediated signaling;IDA|GO:0045777;positive regulation of blood pressure;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0071377;cellular response to glucagon stimulus;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004967;glucagon receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLP1R	https://www.uniprot.org/uniprot/P43220		https://www.ncbi.nlm.nih.gov/omim/?term=138032	http://www.informatics.jax.org/searchtool/Search.do?query=GLP1R&submit=Quick%0D%4192ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLP1R	rs10305532	0.0990415	0	0	1	0	0	intergenic	intergenic	intergenic	GLP1R(dist=1404),SAYSD1(dist=14915)	GLP1R(dist=1404),SAYSD1(dist=14916)	ENSG00000112164(dist=1405),ENSG00000112167(dist=14916)	Na	Na	Na	Na	Na	Na	Het;A>G	3227;128|138	Hom;A>G	7718;1|259
N	N	-	6	39688755	39688755	C	T	snp	intronic	 	 	 	 	KIF6	Kif6	ENSG00000164627	kinesin family member 6	chr6:39297766-39693181		Attention deficit hyperactivity disorder symptoms (interaction); Atherosclerosis|Myocardial Infarction|Recurrence; Coronary Disease|Coronary heart disease; Coronary Disease|Coronary heart disease|Myocardial Infarction; Coronary Disease|Coronary heart disease|Recurrence; Coronary Artery Disease; Tobacco Use Disorder; Myocardial Infarction; Attention Deficit Disorder with Hyperactivity; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Coronary Disease|Coronary heart disease|Myocardial Infarction|Stroke	Mice homozgyos for an ENU-induced allele exhibit normal exercise capacity and cardiac function. Mice homozygous for a knock-out allele exhibit premature death, hydrocephaly, dilated brain ventricles and defective ependymal cell cilia formation.	Kinesins	GO:0007018;microtubule-based movement;IEA	GO:0001673;male germ cell nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA	GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF6			https://www.ncbi.nlm.nih.gov/omim/?term=613919	http://www.informatics.jax.org/searchtool/Search.do?query=KIF6&submit=Quick%0D%11349ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF6	rs62402464	0.0778754	0	0	1	0	0	intronic	intronic	intronic	KIF6	KIF6	ENSG00000164627	Na	Na	Na	Na	Na	Na	Het;C>T	89;3|4	Hom;C>T	75;0|3
N	N	-	6	39828593	39828593	A	T	snp	intronic	 	 	 	 	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs2504099	0.518171	0	0	1	0	0	intronic	intronic	intronic	DAAM2	DAAM2	ENSG00000146122	Na	Na	Na	Na	Na	Na	Het;A>T	55;6|3	Hom;A>T	116;0|4
N	N	-	6	39828862	39828862	A	C	snp	synonymous SNV	A327C	A109A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs2504098	0.647364	0	0.6427	1	0	0	intronic	exonic	exonic	DAAM2	DAAM2	ENSG00000146122	Na	synonymous SNV	unknown	Na	DAAM2:uc003ooy.4:exon3:c.A327C:p.A109A,	UNKNOWN	Het;A>C	252;18|13	Hom;A>C	818;0|25
N	N	-	6	39832111	39832111	A	G	snp	intronic	 	 	 	 	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs2504787	0.631989	0	0	1	0	0	intronic	intronic	intronic	DAAM2	DAAM2	ENSG00000146122	Na	Na	Na	Na	Na	Na	Het;A>G	230;9|11	Hom;A>G	908;0|28
N	N	-	6	39832363	39832363	C	G	snp	intronic	 	 	 	 	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs2504094	0.752396	0	0	1	0	0	intronic	intronic	intronic	DAAM2	DAAM2	ENSG00000146122	Na	Na	Na	Na	Na	Na	Het;C>G	38;4|2	Hom;C>G	249;0|8
N	N	-	6	39846137	39846137	A	G	snp	intronic	 	 	 	 	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs2504086	0.636382	0.5732	0.6140	1	0	0	intronic	intronic	intronic	DAAM2	DAAM2	ENSG00000146122	Na	Na	Na	Na	Na	Na	Het;A>G	377;19|18	Hom;A>G	909;1|33
N	N	-	6	39851818	39851818	G	A	snp	synonymous SNV	G1926A	K642K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs3003929	0.602236	0.5459	0.6112	1	0	0	exonic	exonic	exonic	DAAM2	DAAM2	ENSG00000146122	synonymous SNV	synonymous SNV	unknown	DAAM2:NM_015345:exon15:c.G1926A:p.K642K,DAAM2:NM_001201427:exon15:c.G1926A:p.K642K,	DAAM2:uc003oow.3:exon15:c.G1926A:p.K642K,DAAM2:uc003oox.3:exon15:c.G1926A:p.K642K,	UNKNOWN	Het;G>A	1694;58|80	Hom;G>A	5044;0|186
N	N	-	6	39852402	39852408	GCTGGGC	G	indel	ncRNA_exonic	 	 	 	 	AL590999.1																		rs59294248	0.614816	0	0	1	0	0	intronic	UTR3	ncRNA_exonic	DAAM2	AX747174(uc003ooz.2:c.*1398_*1392delinsC)	ENSG00000235033	Na	Na	Na	Na	Na	Na	Het;-CTGGGC	80;3|3	Hom;-CTGGGC	143;0|4
N	N	-	6	39864730	39864730	C	T	snp	synonymous SNV	C2484T	I828I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs3008815	0.46246	0.4779	0.5142	1	0	0	exonic	exonic	exonic	DAAM2	DAAM2	ENSG00000146122	synonymous SNV	synonymous SNV	unknown	DAAM2:NM_015345:exon20:c.C2484T:p.I828I,DAAM2:NM_001201427:exon20:c.C2484T:p.I828I,	DAAM2:uc003oow.3:exon20:c.C2484T:p.I828I,DAAM2:uc003oox.3:exon20:c.C2484T:p.I828I,	UNKNOWN	Het;C>T	550;26|28	Hom;C>T	2288;0|86
N	N	-	6	39865047	39865047	T	C	snp	synonymous SNV	T2607C	A869A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs3004067	0.756589	0.6654	0.6725	1	0	0	exonic	exonic	exonic	DAAM2	DAAM2	ENSG00000146122	synonymous SNV	synonymous SNV	unknown	DAAM2:NM_015345:exon21:c.T2607C:p.A869A,DAAM2:NM_001201427:exon21:c.T2607C:p.A869A,	DAAM2:uc003oow.3:exon21:c.T2607C:p.A869A,DAAM2:uc003oox.3:exon21:c.T2607C:p.A869A,	UNKNOWN	Het;T>C	1243;69|58	Hom;T>C	2925;0|110
N	N	-	6	39866805	39866805	A	AACAATGGGC	indel	ncRNA_intronic	 	 	 	 	AL590999.1																		rs11281891	0.694289	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DAAM2	DAAM2	ENSG00000235033	Na	Na	Na	Na	Na	Na	Het;+ACAATGGGC	296;8|9	Hom;+ACAATGGGC	877;0|21
N	N	-	6	39869066	39869066	G	C	snp	intronic	 	 	 	 	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs882559	0.621406	0.6006	0.5797	1	0	0	intronic	intronic	intronic	DAAM2	DAAM2	ENSG00000124615,ENSG00000146122	Na	Na	Na	Na	Na	Na	Het;G>C	817;51|38	Hom;G>C	1624;1|60
N	N	-	6	39869952	39869952	T	A	snp	UTR3	*139T>A	 	 	 	DAAM2	Daam2	ENSG00000146122	dishevelled associated activator of morphogenesis 2	chr6:39760142-39872648		Carcinoma, Renal Cell|Kidney Neoplasms; Respiratory Function Tests; Erythrocyte Count; Albumins; pulmonary function; Body Mass Index	Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO.		GO:0007368;determination of left/right symmetry;IEA|GO:0016043;cellular component organization;IEA|GO:0030036;actin cytoskeleton organization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DAAM2	https://www.uniprot.org/uniprot/Q86T65		https://www.ncbi.nlm.nih.gov/omim/?term=606627	http://www.informatics.jax.org/searchtool/Search.do?query=DAAM2&submit=Quick%0D%8841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAAM2	rs3004070	0.482029	0	0	1	0	0	UTR3	UTR3	UTR3	DAAM2(NM_001201427:c.*139T>A,NM_015345:c.*139T>A)	DAAM2(uc003oow.3:c.*139T>A,uc003oox.3:c.*139T>A)	ENSG00000146122(ENST00000274867:c.*139T>A,ENST00000538976:c.*139T>A,ENST00000398904:c.*139T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	133;2|5	Hom;T>A	222;0|8
N	N	-	6	39895410	39895410	T	C	snp	UTR5	-93A>G	 	 	 	MOCS1	Mocs1	ENSG00000124615	molybdenum cofactor synthesis 1	chr6:39867354-39902290	Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants, whose full-length natures have yet to be determined, are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Jan 2010]	Molybdenum Cofactor Deficiency	Homozygotes for a targeted null mutation lack the cofactor molybdopterin and enzyme activities dependent on the cofactor (including sulfate oxidase and xanthine oxidase), have curly whiskers, and die between postnatal days 1 and 11.	Molybdenum cofactor biosynthesis	GO:0006777;Mo-molybdopterin cofactor biosynthetic process;IEA|GO:0032324;molybdopterin cofactor biosynthetic process;TAS	GO:0005634;nucleus;NAS|GO:0005829;cytosol;TAS|GO:0019008;molybdopterin synthase complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005525;GTP binding;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0061798;GTP 3',8'-cyclase activity;IEA|GO:0061799;cyclic pyranopterin monophosphate synthase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOCS1	https://www.uniprot.org/uniprot/Q9NZB8	https://hpo.jax.org/app/browse/search?q=MOCS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603707	http://www.informatics.jax.org/searchtool/Search.do?query=MOCS1&submit=Quick%0D%5692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOCS1	rs3008822	0.623403	0	0	1	0	0	UTR5	UTR5	UTR5	MOCS1(NM_005943:c.-93A>G)	MOCS1(uc003opa.3:c.-93A>G,uc003opb.3:c.-93A>G)	ENSG00000124615(ENST00000373186:c.-93A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1693;60|75	Hom;T>C	3861;0|143
N	N	-	6	40313602	40313602	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00951																		rs9462610	0.173522	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00951	LINC00951	ENSG00000204091,ENSG00000204092	Na	Na	Na	Na	Na	Na	Het;T>C	87;1|4	Hom;T>C	172;0|5
N	N	-	6	40313631	40313631	C	CT	indel	ncRNA_intronic	 	 	 	 	LINC00951																		rs3839623	0.173323	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00951	LINC00951	ENSG00000204091,ENSG00000204092	Na	Na	Na	Na	Na	Na	Het;+T	222;1|7	Hom;+T	432;0|12
N	N	-	6	40321473	40321473	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00951																		rs11752896	0.446286	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00951	LINC00951	ENSG00000204091	Na	Na	Na	Na	Na	Na	Het;A>G	1358;66|62	Hom;A>G	2657;2|97
N	N	-	6	40321758	40321758	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00951																		rs11752942	0.436102	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00951	LINC00951	ENSG00000204091	Na	Na	Na	Na	Na	Na	Het;A>G	1627;97|74	Hom;A>G	4121;0|143
N	N	-	6	40321778	40321778	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00951																		rs2477757	0.940296	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00951	LINC00951	ENSG00000204091	Na	Na	Na	Na	Na	Na	Het;T>C	1832;100|79	Hom;T>C	4157;0|150
N	N	-	6	40322250	40322250	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00951																		rs4714336	0.436302	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00951	LINC00951	ENSG00000204091	Na	Na	Na	Na	Na	Na	Het;C>T	909;69|45	Hom;C>T	2373;0|86
N	N	-	6	40322580	40322580	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00951																		rs4711631	0.436102	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00951	LINC00951	ENSG00000204091	Na	Na	Na	Na	Na	Na	Het;C>A	1484;76|68	Hom;C>A	4574;0|162
N	N	-	6	40750859	40750859	C	T	snp	intergenic	 	 	 	 	AL583854.1																		rs8180543	0.547324	0	0	1	0	0	intergenic	intergenic	intergenic	LRFN2(dist=195656),LOC101929555(dist=95766)	LRFN2(dist=195733),Mir_652(dist=71081)	ENSG00000237947(dist=67757),ENSG00000124602(dist=243913)	Na	Na	Na	Na	Na	Na	Het;C>T	408;54|25	Hom;C>T	1797;0|71
N	N	-	6	41036770	41036770	A	G	snp	intronic	 	 	 	 	OARD1	Oard1	ENSG00000124596	O-acyl-ADP-ribose deacylase 1	chr6:41001366-41065526	The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]		 		GO:0042278;purine nucleoside metabolic process;IDA		GO:0001883;purine nucleoside binding;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019213;deacetylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/OARD1	https://www.uniprot.org/uniprot/Q9Y530		https://www.ncbi.nlm.nih.gov/omim/?term=614393	http://www.informatics.jax.org/searchtool/Search.do?query=OARD1&submit=Quick%0D%5686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OARD1	rs2294695	0.39976	0	0	1	0	0	intronic	intronic	intronic	OARD1	OARD1,UNC5CL	ENSG00000124596	Na	Na	Na	Na	Na	Na	Het;A>G	94;2|5	Hom;A>G	518;0|16
N	N	-	6	41088984	41088985	GT	G	indel	ncRNA_intronic	 	 	 	 	ADCY10P1																		rs57664718	0.506589	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	ADCY10P1	NFYA(dist=18838),ADCY10P1(dist=11048)	ENSG00000161912	Na	Na	Na	Na	Na	Na	Het;-T	115;3|8	Hom;-T	102;0|6
N	N	-	6	41105094	41105094	T	G	snp	ncRNA_splicing	 	 	 	 	ADCY10P1																		rs56246713	0.566693	0	0	1	0	0	ncRNA_splicing	intergenic	ncRNA_splicing	ADCY10P1(NR_026938:exon20:c.3795-1T>G)	ADCY10P1(dist=2014),TREML1(dist=11905)	ENSG00000161912(ENST00000567255:exon20:c.3795-1T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	515;25|24	Hom;T>G	1599;1|57
N	N	-	6	41303592	41303592	T	C	snp	UTR5	-23T>C	 	 	 	NCR2		ENSG00000096264	natural cytotoxicity triggering receptor 2	chr6:41303393-41318625		Stroke; Heart Rate; Alzheimer Disease; Coronary Artery Disease		DAP12 interactions	GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCR2	https://www.uniprot.org/uniprot/O95944		https://www.ncbi.nlm.nih.gov/omim/?term=604531	http://www.informatics.jax.org/searchtool/Search.do?query=NCR2&submit=Quick%0D%2279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR2	rs9394782	0.660343	0.5964	0.6795	1	0	0	UTR5	UTR5	UTR5	NCR2(NM_001199509:c.-23T>C,NM_004828:c.-23T>C,NM_001199510:c.-23T>C)	NCR2(uc003oqj.2:c.-23T>C,uc003oqi.2:c.-23T>C,uc003oqh.2:c.-23T>C)	ENSG00000096264(ENST00000373083:c.-23T>C,ENST00000373089:c.-23T>C,ENST00000373086:c.-23T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	1514;99|74	Hom;T>C	4537;0|169
N	N	-	6	41309552	41309552	T	C	snp	nonsynonymous SNV	T415C	S139P	polar,hydrophilic,neutral	hydrophobic,neutral	NCR2		ENSG00000096264	natural cytotoxicity triggering receptor 2	chr6:41303393-41318625		Stroke; Heart Rate; Alzheimer Disease; Coronary Artery Disease		DAP12 interactions	GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCR2	https://www.uniprot.org/uniprot/O95944		https://www.ncbi.nlm.nih.gov/omim/?term=604531	http://www.informatics.jax.org/searchtool/Search.do?query=NCR2&submit=Quick%0D%2279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR2	rs2236369	0.489617	0.4752	0.5771	0.17	2	12	exonic	exonic	exonic	NCR2	NCR2	ENSG00000096264	nonsynonymous SNV	nonsynonymous SNV	unknown	NCR2:NM_001199509:exon3:c.T415C:p.S139P,NCR2:NM_004828:exon3:c.T415C:p.S139P,NCR2:NM_001199510:exon3:c.T415C:p.S139P,	NCR2:uc003oqh.2:exon3:c.T415C:p.S139P,NCR2:uc003oqj.2:exon3:c.T415C:p.S139P,NCR2:uc003oqi.2:exon3:c.T415C:p.S139P,	UNKNOWN	Het;T>C	935;62|46	Hom;T>C	2218;0|82
N	N	-	6	41309698	41309698	G	C	snp	intronic	 	 	 	 	NCR2		ENSG00000096264	natural cytotoxicity triggering receptor 2	chr6:41303393-41318625		Stroke; Heart Rate; Alzheimer Disease; Coronary Artery Disease		DAP12 interactions	GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCR2	https://www.uniprot.org/uniprot/O95944		https://www.ncbi.nlm.nih.gov/omim/?term=604531	http://www.informatics.jax.org/searchtool/Search.do?query=NCR2&submit=Quick%0D%2279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR2	rs2236370	0.540535	0.5427	0.6171	1	0	0	intronic	intronic	intronic	NCR2	NCR2	ENSG00000096264	Na	Na	Na	Na	Na	Na	Het;G>C	1149;48|51	Hom;G>C	2612;0|92
N	N	-	6	41318438	41318438	A	G	snp	nonsynonymous SNV	A667G	M223V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NCR2		ENSG00000096264	natural cytotoxicity triggering receptor 2	chr6:41303393-41318625		Stroke; Heart Rate; Alzheimer Disease; Coronary Artery Disease		DAP12 interactions	GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NCR2	https://www.uniprot.org/uniprot/O95944		https://www.ncbi.nlm.nih.gov/omim/?term=604531	http://www.informatics.jax.org/searchtool/Search.do?query=NCR2&submit=Quick%0D%2279ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR2	rs2273962	0.726837	0.6982	0.7589	0.09	1	11	exonic	exonic	exonic	NCR2	NCR2	ENSG00000096264	nonsynonymous SNV	nonsynonymous SNV	unknown	NCR2:NM_004828:exon5:c.A667G:p.M223V,	NCR2:uc003oqh.2:exon5:c.A667G:p.M223V,	UNKNOWN	Het;A>G	633;25|33	Hom;A>G	808;0|32
N	N	-	6	41499568	41499568	C	T	snp	ncRNA_intronic	 	 	 	 	FOXP4-AS1																		rs2477817	0.623602	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	FOXP4-AS1	DQ141194(dist=11978),FOXP4(dist=14596)	ENSG00000234753	Na	Na	Na	Na	Na	Na	Het;C>T	96;2|6	Hom;C>T	155;0|7
N	N	-	6	41650736	41650736	C	T	snp	downstream	 	 	 	 	TFEB	Tfeb	ENSG00000112561	transcription factor EB	chr6:41651716-41703997		Metabolism; ADHD | attention-deficit hyperactivity disorder; Coronary Disease	Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5.		GO:0001892;embryonic placenta development;ISS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006914;autophagy;IEA|GO:0006959;humoral immune response;IEA|GO:0007040;lysosome organization;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TFEB	https://www.uniprot.org/uniprot/P19484		https://www.ncbi.nlm.nih.gov/omim/?term=600744	http://www.informatics.jax.org/searchtool/Search.do?query=TFEB&submit=Quick%0D%4260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TFEB	rs2842643	0.767173	0	0	1	0	0	downstream	downstream	downstream	TFEB	TFEB	ENSG00000112561	Na	Na	Na	Na	Na	Na	Het;C>T	198;1|10	Hom;C>T	444;0|17
N	N	-	6	41652514	41652514	C	T	snp	synonymous SNV	G1254A	A418A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TFEB	Tfeb	ENSG00000112561	transcription factor EB	chr6:41651716-41703997		Metabolism; ADHD | attention-deficit hyperactivity disorder; Coronary Disease	Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5.		GO:0001892;embryonic placenta development;ISS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006914;autophagy;IEA|GO:0006959;humoral immune response;IEA|GO:0007040;lysosome organization;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TFEB	https://www.uniprot.org/uniprot/P19484		https://www.ncbi.nlm.nih.gov/omim/?term=600744	http://www.informatics.jax.org/searchtool/Search.do?query=TFEB&submit=Quick%0D%4260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TFEB	rs2073158	0.197484	0.1589	0.2041	1	0	0	exonic	exonic	exonic	TFEB	TFEB	ENSG00000112561	synonymous SNV	synonymous SNV	unknown	TFEB:NM_007162:exon10:c.G1254A:p.A418A,TFEB:NM_001271945:exon9:c.G1254A:p.A418A,TFEB:NM_001271943:exon8:c.G999A:p.A333A,TFEB:NM_001271944:exon9:c.G1254A:p.A418A,TFEB:NM_001167827:exon9:c.G1296A:p.A432A,	TFEB:uc003oqs.1:exon10:c.G1254A:p.A418A,TFEB:uc031sop.1:exon9:c.G1254A:p.A418A,TFEB:uc021yzl.1:exon8:c.G1455A:p.A485A,TFEB:uc003oqr.2:exon8:c.G999A:p.A333A,TFEB:uc003oqt.2:exon9:c.G1254A:p.A418A,TFEB:uc003oqu.2:exon9:c.G1296A:p.A432A,	UNKNOWN	Het;C>T	2160;61|94	Hom;C>T	4323;0|156
N	N	-	6	41873961	41873961	T	A	snp	UTR3	*849A>T	 	 	 	MED20	Med20	ENSG00000124641	mediator complex subunit 20	chr6:41873092-41888877	This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]	Waist-Hip Ratio	 	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0016567;protein ubiquitination;IEA	GO:0000151;ubiquitin ligase complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016592;mediator complex;NAS	GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003713;transcription coactivator activity;IBA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;NAS|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MED20	https://www.uniprot.org/uniprot/Q9H944		https://www.ncbi.nlm.nih.gov/omim/?term=612915	http://www.informatics.jax.org/searchtool/Search.do?query=MED20&submit=Quick%0D%5694ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED20	rs4714518	0.764377	0	0	1	0	0	UTR3	UTR3	UTR3	MED20(NM_004275:c.*849A>T)	MED20(uc003orj.3:c.*849A>T,uc003ork.3:c.*849A>T,uc011duh.2:c.*1040A>T,uc011dui.3:c.*599A>T,uc011duj.2:c.*849A>T)	ENSG00000124641(ENST00000265350:c.*849A>T)	Na	Na	Na	Na	Na	Na	Het;T>A	972;68|51	Hom;T>A	3020;0|114
N	N	-	6	41898096	41898096	A	G	snp	intronic	 	 	 	 	BYSL	Bysl	ENSG00000112578	bystin like	chr6:41888926-41900784	Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; mean corpuscular hemoglobin; mean corpuscular volume; hematological parameters	Homozygous mutation of this gene results in embryonic lethality shortly after implantation.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0001701;in utero embryonic development;IEA|GO:0001825;blastocyst formation;IEA|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006364;rRNA processing;TAS|GO:0007155;cell adhesion;TAS|GO:0007565;female pregnancy;TAS|GO:0008283;cell proliferation;IEA|GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045177;apical part of cell;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BYSL	https://www.uniprot.org/uniprot/Q13895		https://www.ncbi.nlm.nih.gov/omim/?term=603871	http://www.informatics.jax.org/searchtool/Search.do?query=BYSL&submit=Quick%0D%4263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BYSL	rs2479726	0.786542	0	0	1	0	0	intronic	intronic	intronic	BYSL	BYSL	ENSG00000112578	Na	Na	Na	Na	Na	Na	Het;A>G	490;13|20	Hom;A>G	912;0|33
N	N	-	6	4189964	4189964	T	C	snp	ncRNA_exonic	 	 	 	 	AL136309.1																		rs12212264	0.332069	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_exonic	LOC102724096	AK092451(dist=32345),KU-MEL-3(dist=420882)	ENSG00000216307	Na	Na	Na	Na	Na	Na	Het;T>C	276;6|12	Hom;T>C	475;0|17
N	N	-	6	4190150	4190150	C	T	snp	ncRNA_exonic	 	 	 	 	LOC102724096																		rs13203277	0.345447	0	0	1	0	0	ncRNA_exonic	intergenic	downstream	LOC102724096	AK092451(dist=32531),KU-MEL-3(dist=420696)	ENSG00000216307	Na	Na	Na	Na	Na	Na	Het;C>T	2045;92|98	Hom;C>T	4611;1|169
N	N	-	6	41905174	41905174	T	A	snp	intronic	 	 	 	 	CCND3	Ccnd3	ENSG00000112576	cyclin D3	chr6:41902671-42018095	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]	Alzheimer's disease ; ovarian cancer; Body Weight; Body Mass Index; Erythrocyte Count; Chronic renal failure|Kidney Failure, Chronic; breast cancer; Body Fat Distribution; Waist Circumference; ovarian cancer ; Breast Neoplasms; lung cancer; Neutrophils; chronic obstructive pulmonary disease; hematological parameters; Erythrocyte Indices; Waist-Hip Ratio; breast cancer ; plasma HDL cholesterol (HDL-C) levels; bladder cancer; mean corpuscular hemoglobin; mean corpuscular volume; lung cancer ; null; esophageal adenocarcinoma	Mice homozygous for a knock-out allele exhibit severe thymus hypoplasia, abnormal thymocyte development, and impaired expansion of immature T lymphocytes.	Regulation of RUNX1 Expression and Activity	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;IEA|GO:0042098;T cell proliferation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0046626;regulation of insulin receptor signaling pathway;IEA|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;IEA	GO:0000307;cyclin-dependent protein kinase holoenzyme complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA	GO:0004693;cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCND3	https://www.uniprot.org/uniprot/P30281		https://www.ncbi.nlm.nih.gov/omim/?term=123834	http://www.informatics.jax.org/searchtool/Search.do?query=CCND3&submit=Quick%0D%4262ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCND3	rs2479717	0.863618	0.8001	0.7846	1	0	0	intronic	intronic	intronic	CCND3	CCND3	ENSG00000112576	Na	Na	Na	Na	Na	Na	Het;T>A	169;16|10	Hom;T>A	926;0|32
N	N	-	6	42123317	42123317	A	C	snp	unknown	 	 	 	 	AL096814.1																		rs1132156	0.667732	0	0.6910	0.17	1	6	UTR5	UTR5	exonic	GUCA1A(NM_000409:c.-18035A>C)	GUCA1A(uc003orx.3:c.-18035A>C,uc011duo.3:c.-18035A>C,uc010jxt.3:c.-18035A>C)	ENSG00000214732	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>C	742;21|33	Hom;A>C	1419;0|55
N	N	-	6	42615950	42615950	C	T	snp	intronic	 	 	 	 	UBR2	Ubr2	ENSG00000024048	ubiquitin protein ligase E3 component n-recognin 2	chr6:42531800-42661242	This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Tobacco Use Disorder	On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006342;chromatin silencing;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0033522;histone H2A ubiquitination;IBA|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA	GO:0000151;ubiquitin ligase complex;IBA|GO:0000785;chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBR2	https://www.uniprot.org/uniprot/Q8IWV8		https://www.ncbi.nlm.nih.gov/omim/?term=609134	http://www.informatics.jax.org/searchtool/Search.do?query=UBR2&submit=Quick%0D%693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR2	rs2273176	0.258786	0.2623	0.2765	1	0	0	intronic	intronic	intronic	UBR2	UBR2	ENSG00000024048	Na	Na	Na	Na	Na	Na	Het;C>T	1089;47|49	Hom;C>T	2758;2|100
N	N	-	6	42627430	42627430	C	T	snp	synonymous SNV	C2214T	G738G	aliphatic,neutral	aliphatic,neutral	UBR2	Ubr2	ENSG00000024048	ubiquitin protein ligase E3 component n-recognin 2	chr6:42531800-42661242	This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Tobacco Use Disorder	On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006342;chromatin silencing;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0033522;histone H2A ubiquitination;IBA|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA	GO:0000151;ubiquitin ligase complex;IBA|GO:0000785;chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBR2	https://www.uniprot.org/uniprot/Q8IWV8		https://www.ncbi.nlm.nih.gov/omim/?term=609134	http://www.informatics.jax.org/searchtool/Search.do?query=UBR2&submit=Quick%0D%693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR2	rs6916713	0.252596	0.2640	0.2762	1	0	0	exonic	exonic	exonic	UBR2	UBR2	ENSG00000024048	synonymous SNV	synonymous SNV	unknown	UBR2:NM_015255:exon30:c.C3279T:p.G1093G,	UBR2:uc011dus.2:exon22:c.C2214T:p.G738G,UBR2:uc011dur.2:exon30:c.C3279T:p.G1093G,	UNKNOWN	Het;C>T	1545;56|68	Hom;C>T	6304;3|143
N	N	-	6	42650766	42650766	G	GT	indel	intronic	 	 	 	 	UBR2	Ubr2	ENSG00000024048	ubiquitin protein ligase E3 component n-recognin 2	chr6:42531800-42661242	This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Tobacco Use Disorder	On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006342;chromatin silencing;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0033522;histone H2A ubiquitination;IBA|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA	GO:0000151;ubiquitin ligase complex;IBA|GO:0000785;chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBR2	https://www.uniprot.org/uniprot/Q8IWV8		https://www.ncbi.nlm.nih.gov/omim/?term=609134	http://www.informatics.jax.org/searchtool/Search.do?query=UBR2&submit=Quick%0D%693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR2	rs34240626	0.754992	0.8478	0.7823	1	0	0	intronic	intronic	intronic	UBR2	UBR2	ENSG00000024048	Na	Na	Na	Na	Na	Na	Het;+T	682;36|29	Hom;+T	1517;0|49
N	N	-	6	42652667	42652667	G	A	snp	intronic	 	 	 	 	UBR2	Ubr2	ENSG00000024048	ubiquitin protein ligase E3 component n-recognin 2	chr6:42531800-42661242	This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Tobacco Use Disorder	On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006342;chromatin silencing;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0033522;histone H2A ubiquitination;IBA|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA	GO:0000151;ubiquitin ligase complex;IBA|GO:0000785;chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBR2	https://www.uniprot.org/uniprot/Q8IWV8		https://www.ncbi.nlm.nih.gov/omim/?term=609134	http://www.informatics.jax.org/searchtool/Search.do?query=UBR2&submit=Quick%0D%693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR2	rs434505	0.734026	0.7536	0	1	0	0	intronic	intronic	intronic	UBR2	UBR2	ENSG00000024048	Na	Na	Na	Na	Na	Na	Het;G>A	416;16|17	Hom;G>A	842;0|31
N	N	-	6	42658752	42658752	T	C	snp	intronic	 	 	 	 	UBR2	Ubr2	ENSG00000024048	ubiquitin protein ligase E3 component n-recognin 2	chr6:42531800-42661242	This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Tobacco Use Disorder	On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0006342;chromatin silencing;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0033522;histone H2A ubiquitination;IBA|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA	GO:0000151;ubiquitin ligase complex;IBA|GO:0000785;chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBR2	https://www.uniprot.org/uniprot/Q8IWV8		https://www.ncbi.nlm.nih.gov/omim/?term=609134	http://www.informatics.jax.org/searchtool/Search.do?query=UBR2&submit=Quick%0D%693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR2	rs373341	0.469649	0.5050	0.4970	1	0	0	intronic	intronic	intronic	UBR2	UBR2	ENSG00000024048	Na	Na	Na	Na	Na	Na	Het;T>C	512;25|21	Hom;T>C	1569;0|48
N	N	-	6	42664658	42664658	G	A	snp	UTR3	*1375C>T	 	 	 	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs405043	0.751398	0	0	1	0	0	UTR3	UTR3	UTR3	PRPH2(NM_000322:c.*1375C>T)	PRPH2(uc003osk.3:c.*1375C>T)	ENSG00000112619(ENST00000230381:c.*1375C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	408;14|18	Hom;G>A	890;0|34
N	N	-	6	42664676	42664676	G	A	snp	UTR3	*1357C>T	 	 	 	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs405059	0.754393	0	0	1	0	0	UTR3	UTR3	UTR3	PRPH2(NM_000322:c.*1357C>T)	PRPH2(uc003osk.3:c.*1357C>T)	ENSG00000112619(ENST00000230381:c.*1357C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	543;17|24	Hom;G>A	1001;0|38
N	N	-	6	42665271	42665271	G	A	snp	UTR3	*762C>T	 	 	 	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs1758213	0.754393	0	0	1	0	0	UTR3	UTR3	UTR3	PRPH2(NM_000322:c.*762C>T)	PRPH2(uc003osk.3:c.*762C>T)	ENSG00000112619(ENST00000230381:c.*762C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	676;58|37	Hom;G>A	2175;0|84
N	N	-	6	42665490	42665490	C	T	snp	UTR3	*543G>A	 	 	 	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs432753	0.754593	0	0	1	0	0	UTR3	UTR3	UTR3	PRPH2(NM_000322:c.*543G>A)	PRPH2(uc003osk.3:c.*543G>A)	ENSG00000112619(ENST00000230381:c.*543G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	391;26|20	Hom;C>T	422;0|17
N	N	-	6	42666020	42666020	G	A	snp	UTR3	*13C>T	 	 	 	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs361524	0.256989	0.2736	0.2786	1	0	0	UTR3	UTR3	UTR3	PRPH2(NM_000322:c.*13C>T)	PRPH2(uc003osk.3:c.*13C>T)	ENSG00000112619(ENST00000230381:c.*13C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1983;110|94	Hom;G>A	4710;2|177
N	N	-	6	42666061	42666061	T	C	snp	nonsynonymous SNV	A1013G	D338G	polar,hydrophilic,charged(-)	aliphatic,neutral	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs434102	0.757388	0.7768	0.7790	0.30	3	10	exonic	exonic	exonic	PRPH2	PRPH2	ENSG00000112619	nonsynonymous SNV	nonsynonymous SNV	unknown	PRPH2:NM_000322:exon3:c.A1013G:p.D338G,	PRPH2:uc003osk.3:exon3:c.A1013G:p.D338G,	UNKNOWN	Het;T>C	2004;107|97	Hom;T>C	4775;2|168
N	N	-	6	42666164	42666164	G	C	snp	nonsynonymous SNV	C910G	Q304E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs390659	0.756589	0.7768	0.7774	0.30	3	10	exonic	exonic	exonic	PRPH2	PRPH2	ENSG00000112619	nonsynonymous SNV	nonsynonymous SNV	unknown	PRPH2:NM_000322:exon3:c.C910G:p.Q304E,	PRPH2:uc003osk.3:exon3:c.C910G:p.Q304E,	UNKNOWN	Het;G>C	1634;108|77	Hom;G>C	4151;0|147
N	N	-	6	42666365	42666365	G	C	snp	intronic	 	 	 	 	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs389999	0.757388	0	0	1	0	0	intronic	intronic	intronic	PRPH2	PRPH2	ENSG00000112619	Na	Na	Na	Na	Na	Na	Het;G>C	416;17|18	Hom;G>C	1291;0|43
N	N	-	6	42666475	42666475	T	C	snp	intronic	 	 	 	 	PRPH2	Prph2	ENSG00000112619	peripherin 2	chr6:42664340-42690312	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]	Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa	Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.		GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/PRPH2	https://www.uniprot.org/uniprot/P23942	https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=179605	http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2	rs433286	0.757588	0	0	1	0	0	intronic	intronic	intronic	PRPH2	PRPH2	ENSG00000112619	Na	Na	Na	Na	Na	Na	Het;T>C	79;1|3	Hom;T>C	231;0|8
N	N	-	6	42903763	42903763	C	G	snp	intronic	 	 	 	 	CNPY3	Cnpy3	ENSG00000137161	canopy FGF signaling regulator 3	chr6:42896938-42907025	This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]		Mice homozygous for a null allele exhibit postnatal growth retardation, postnatal lethality and defects in immune responses mediated by Toll-like receptors.	Trafficking and processing of endosomal TLR	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0045087;innate immune response;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNPY3	https://www.uniprot.org/uniprot/Q9BT09	https://hpo.jax.org/app/browse/search?q=CNPY3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610774	http://www.informatics.jax.org/searchtool/Search.do?query=CNPY3&submit=Quick%0D%7484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNPY3	rs1053538	0.480431	0	0	1	0	0	intronic	intronic	intronic	CNPY3	CNPY3	ENSG00000137161	Na	Na	Na	Na	Na	Na	Het;C>G	3843;81|95	Hom;C>G	8072;0|178
N	N	-	6	42903766	42903766	T	G	snp	intronic	 	 	 	 	CNPY3	Cnpy3	ENSG00000137161	canopy FGF signaling regulator 3	chr6:42896938-42907025	This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]		Mice homozygous for a null allele exhibit postnatal growth retardation, postnatal lethality and defects in immune responses mediated by Toll-like receptors.	Trafficking and processing of endosomal TLR	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0045087;innate immune response;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNPY3	https://www.uniprot.org/uniprot/Q9BT09	https://hpo.jax.org/app/browse/search?q=CNPY3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610774	http://www.informatics.jax.org/searchtool/Search.do?query=CNPY3&submit=Quick%0D%7484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNPY3	rs1053539	0.505791	0	0	1	0	0	intronic	intronic	intronic	CNPY3	CNPY3	ENSG00000137161	Na	Na	Na	Na	Na	Na	Het;T>G	3840;84|102	Hom;T>G	8013;0|181
N	N	-	6	42924247	42924247	G	A	snp	ncRNA_exonic	 	 	 	 	RPL24P4																		rs13216214	0.494409	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CNPY3(dist=17239),GNMT(dist=4253)	CNPY3(dist=17239),GNMT(dist=4253)	ENSG00000181524	Na	Na	Na	Na	Na	Na	Het;G>A	67;1|3	Hom;G>A	92;0|4
N	N	-	6	42924424	42924424	G	T	snp	ncRNA_exonic	 	 	 	 	RPL24P4																		rs4714640	0.496206	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CNPY3(dist=17416),GNMT(dist=4076)	CNPY3(dist=17416),GNMT(dist=4076)	ENSG00000181524	Na	Na	Na	Na	Na	Na	Het;G>T	250;6|11	Hom;G>T	226;0|9
N	N	-	6	42924488	42924489	CA	C	indel	ncRNA_exonic	 	 	 	 	RPL24P4																		rs70990160	0.494409	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CNPY3(dist=17480),GNMT(dist=4011)	CNPY3(dist=17480),GNMT(dist=4011)	ENSG00000181524	Na	Na	Na	Na	Na	Na	Het;-A	121;5|6	Hom;-A	186;0|7
N	N	-	6	42928461	42928461	C	T	snp	upstream;downstream	 	 	 	 	GNMT	Gnmt	ENSG00000124713	glycine N-methyltransferase	chr6:42928496-42931618	The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]	homocyteine; Cleft Lip|Cleft Palate; prostate cancer; Spinal Dysraphism	Mice homozygous for a null mutation display elevated levels of methionine and S-adenosylmethionine in the liver.  Mice homozygous for another null allele exhibit hepatitis, increased hepatic glycogen storage, and hepatocellular carcinoma.	Glyoxylate metabolism and glycine degradation	GO:0005977;glycogen metabolic process;IEA|GO:0006111;regulation of gluconeogenesis;IEA|GO:0006464;cellular protein modification process;NAS|GO:0006555;methionine metabolic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046500;S-adenosylmethionine metabolic process;IDA|GO:0051289;protein homotetramerization;IPI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0005542;folic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016594;glycine binding;IDA|GO:0016740;transferase activity;IEA|GO:0017174;glycine N-methyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GNMT	https://www.uniprot.org/uniprot/Q14749	https://hpo.jax.org/app/browse/search?q=GNMT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606628	http://www.informatics.jax.org/searchtool/Search.do?query=GNMT&submit=Quick%0D%5701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNMT	rs10948059	0.392173	0.4227	0.4985	1	0	0	upstream	upstream;downstream	upstream	GNMT	GNMT;BC040637	ENSG00000124713	Na	Na	Na	Na	Na	Na	Het;C>T	256;19|15	Hom;C>T	662;0|24
N	N	-	6	42928758	42928758	T	G	snp	intronic	 	 	 	 	GNMT	Gnmt	ENSG00000124713	glycine N-methyltransferase	chr6:42928496-42931618	The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]	homocyteine; Cleft Lip|Cleft Palate; prostate cancer; Spinal Dysraphism	Mice homozygous for a null mutation display elevated levels of methionine and S-adenosylmethionine in the liver.  Mice homozygous for another null allele exhibit hepatitis, increased hepatic glycogen storage, and hepatocellular carcinoma.	Glyoxylate metabolism and glycine degradation	GO:0005977;glycogen metabolic process;IEA|GO:0006111;regulation of gluconeogenesis;IEA|GO:0006464;cellular protein modification process;NAS|GO:0006555;methionine metabolic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046500;S-adenosylmethionine metabolic process;IDA|GO:0051289;protein homotetramerization;IPI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0005542;folic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016594;glycine binding;IDA|GO:0016740;transferase activity;IEA|GO:0017174;glycine N-methyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GNMT	https://www.uniprot.org/uniprot/Q14749	https://hpo.jax.org/app/browse/search?q=GNMT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606628	http://www.informatics.jax.org/searchtool/Search.do?query=GNMT&submit=Quick%0D%5701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNMT	rs2296805	0.644968	0.7499	0.6409	1	0	0	intronic	intronic	intronic	GNMT	GNMT	ENSG00000124713	Na	Na	Na	Na	Na	Na	Het;T>G	92;2|5	Hom;T>G	215;0|6
N	N	-	6	42929839	42929839	G	A	snp	intronic	 	 	 	 	GNMT	Gnmt	ENSG00000124713	glycine N-methyltransferase	chr6:42928496-42931618	The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]	homocyteine; Cleft Lip|Cleft Palate; prostate cancer; Spinal Dysraphism	Mice homozygous for a null mutation display elevated levels of methionine and S-adenosylmethionine in the liver.  Mice homozygous for another null allele exhibit hepatitis, increased hepatic glycogen storage, and hepatocellular carcinoma.	Glyoxylate metabolism and glycine degradation	GO:0005977;glycogen metabolic process;IEA|GO:0006111;regulation of gluconeogenesis;IEA|GO:0006464;cellular protein modification process;NAS|GO:0006555;methionine metabolic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046500;S-adenosylmethionine metabolic process;IDA|GO:0051289;protein homotetramerization;IPI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0005542;folic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016594;glycine binding;IDA|GO:0016740;transferase activity;IEA|GO:0017174;glycine N-methyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GNMT	https://www.uniprot.org/uniprot/Q14749	https://hpo.jax.org/app/browse/search?q=GNMT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606628	http://www.informatics.jax.org/searchtool/Search.do?query=GNMT&submit=Quick%0D%5701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNMT	rs7760250	0.491813	0	0	1	0	0	intronic	intronic	intronic	GNMT	GNMT	ENSG00000124713	Na	Na	Na	Na	Na	Na	Het;G>A	236;5|8	Hom;G>A	247;0|8
N	N	-	6	42931224	42931224	G	A	snp	intronic	 	 	 	 	GNMT	Gnmt	ENSG00000124713	glycine N-methyltransferase	chr6:42928496-42931618	The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]	homocyteine; Cleft Lip|Cleft Palate; prostate cancer; Spinal Dysraphism	Mice homozygous for a null mutation display elevated levels of methionine and S-adenosylmethionine in the liver.  Mice homozygous for another null allele exhibit hepatitis, increased hepatic glycogen storage, and hepatocellular carcinoma.	Glyoxylate metabolism and glycine degradation	GO:0005977;glycogen metabolic process;IEA|GO:0006111;regulation of gluconeogenesis;IEA|GO:0006464;cellular protein modification process;NAS|GO:0006555;methionine metabolic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046500;S-adenosylmethionine metabolic process;IDA|GO:0051289;protein homotetramerization;IPI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0005542;folic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016594;glycine binding;IDA|GO:0016740;transferase activity;IEA|GO:0017174;glycine N-methyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GNMT	https://www.uniprot.org/uniprot/Q14749	https://hpo.jax.org/app/browse/search?q=GNMT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606628	http://www.informatics.jax.org/searchtool/Search.do?query=GNMT&submit=Quick%0D%5701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNMT	rs4987173	0.341454	0.4341	0.3929	1	0	0	intronic	intronic	intronic	GNMT	GNMT	ENSG00000124713	Na	Na	Na	Na	Na	Na	Het;G>A	1612;90|75	Hom;G>A	3409;2|127
N	N	-	6	42931261	42931261	C	G	snp	intronic	 	 	 	 	GNMT	Gnmt	ENSG00000124713	glycine N-methyltransferase	chr6:42928496-42931618	The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]	homocyteine; Cleft Lip|Cleft Palate; prostate cancer; Spinal Dysraphism	Mice homozygous for a null mutation display elevated levels of methionine and S-adenosylmethionine in the liver.  Mice homozygous for another null allele exhibit hepatitis, increased hepatic glycogen storage, and hepatocellular carcinoma.	Glyoxylate metabolism and glycine degradation	GO:0005977;glycogen metabolic process;IEA|GO:0006111;regulation of gluconeogenesis;IEA|GO:0006464;cellular protein modification process;NAS|GO:0006555;methionine metabolic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0046500;S-adenosylmethionine metabolic process;IDA|GO:0051289;protein homotetramerization;IPI	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI|GO:0005542;folic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016594;glycine binding;IDA|GO:0016740;transferase activity;IEA|GO:0017174;glycine N-methyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GNMT	https://www.uniprot.org/uniprot/Q14749	https://hpo.jax.org/app/browse/search?q=GNMT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606628	http://www.informatics.jax.org/searchtool/Search.do?query=GNMT&submit=Quick%0D%5701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNMT	rs2296804	0.647364	0.6896	0.5897	1	0	0	intronic	intronic	intronic	GNMT	GNMT	ENSG00000124713	Na	Na	Na	Na	Na	Na	Het;C>G	1233;76|54	Hom;C>G	2812;3|107
N	N	-	6	42931627	42931631	GTTTA	G	indel	UTR3	*446_*442delinsC	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs144286892	0.647364	0	0	1	0	0	UTR3	UTR3	UTR3	PEX6(NM_000287:c.*446_*442delinsC)	PEX6(uc003otf.3:c.*446_*442delinsC)	ENSG00000124587(ENST00000304611:c.*446_*442delinsC)	Na	Na	Na	Na	Na	Na	Het;-TTTA	1461;61|41	Hom;-TTTA	3560;1|82
N	N	-	6	42932200	42932200	G	T	snp	nonsynonymous SNV	C2816A	P939Q	hydrophobic,neutral	polar,hydrophilic,neutral	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs1129187	0.33147	0.4269	0.3911	0.15	2	13	exonic	exonic	exonic	PEX6	PEX6	ENSG00000124587	nonsynonymous SNV	nonsynonymous SNV	unknown	PEX6:NM_000287:exon17:c.C2816A:p.P939Q,	PEX6:uc003otf.3:exon17:c.C2816A:p.P939Q,	UNKNOWN	Het;G>T	1389;35|38	Hom;G>T	2588;0|60
N	N	-	6	42932202	42932202	C	T	snp	synonymous SNV	G2814A	E938E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs1129186	0.49361	0.5976	0.4911	1	0	0	exonic	exonic	exonic	PEX6	PEX6	ENSG00000124587	synonymous SNV	synonymous SNV	unknown	PEX6:NM_000287:exon17:c.G2814A:p.E938E,	PEX6:uc003otf.3:exon17:c.G2814A:p.E938E,	UNKNOWN	Het;C>T	1389;34|36	Hom;C>T	2588;0|56
N	N	-	6	42932715	42932715	C	T	snp	intronic	 	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs2274517	0.502796	0.6046	0.4935	1	0	0	intronic	intronic	intronic	PEX6	PEX6	ENSG00000124587	Na	Na	Na	Na	Na	Na	Het;C>T	536;43|25	Hom;C>T	1599;0|57
N	N	-	6	42934500	42934500	C	T	snp	intronic	 	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs2274514	0.49381	0.5978	0.4910	1	0	0	intronic	intronic	intronic	PEX6	PEX6	ENSG00000124587	Na	Na	Na	Na	Na	Na	Het;C>T	1118;74|53	Hom;C>T	3401;0|122
N	N	-	6	42934620	42934620	C	T	snp	intronic	 	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs3818554	0.49401	0.5978	0.4910	1	0	0	intronic	intronic	intronic	PEX6	PEX6	ENSG00000124587	Na	Na	Na	Na	Na	Na	Het;C>T	608;32|30	Hom;C>T	1761;0|64
N	N	-	6	42935998	42935998	G	A	snp	intronic	 	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs9471982	0.497604	0.5991	0.4904	1	0	0	intronic	intronic	intronic	PEX6	PEX6	ENSG00000124587	Na	Na	Na	Na	Na	Na	Het;G>A	576;15|26	Hom;G>A	745;0|29
N	N	-	6	42942779	42942779	A	G	snp	intronic	 	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs9986447	0.289736	0.3767	0.3776	1	0	0	intronic	intronic	intronic	PEX6	PEX6	ENSG00000124587	Na	Na	Na	Na	Na	Na	Het;A>G	461;32|22	Hom;A>G	1846;0|66
N	N	-	6	42946490	42946490	C	A	snp	synonymous SNV	G399T	V133V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs9462858	0.331869	0.3754	0.4494	1	0	0	exonic	exonic	exonic	PEX6	PEX6	ENSG00000124587	synonymous SNV	synonymous SNV	unknown	PEX6:NM_000287:exon1:c.G399T:p.V133V,	PEX6:uc003otf.3:exon1:c.G399T:p.V133V,	UNKNOWN	Het;C>A	497;15|21	Hom;C>A	1042;0|35
N	N	-	6	42946943	42946943	G	A	snp	UTR5	-55C>T	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs9462859	0.333866	0	0	1	0	0	UTR5	UTR5	UTR5	PEX6(NM_000287:c.-55C>T)	PEX6(uc003otf.3:c.-55C>T)	ENSG00000124587(ENST00000304611:c.-55C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	836;48|44	Hom;G>A	2130;2|83
N	N	-	6	42947013	42947013	G	C	snp	upstream	 	 	 	 	PEX6	Pex6	ENSG00000124587	peroxisomal biogenesis factor 6	chr6:42931608-42946958	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	ZELLWEGER SYNDROME	 		GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP	GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP	http://www.genecards.org/index.php?path=/Search/keyword/PEX6	https://www.uniprot.org/uniprot/Q13608	https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601498	http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6	rs9462860	0.509784	0	0	1	0	0	upstream	upstream	upstream	PEX6	PEX6	ENSG00000124587	Na	Na	Na	Na	Na	Na	Het;G>C	405;19|21	Hom;G>C	1348;0|47
N	N	-	6	43269029	43269029	A	C	snp	intronic	 	 	 	 	SLC22A7	Slc22a7	ENSG00000137204	solute carrier family 22 member 7	chr6:43263432-43273276	The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	drug-related genes 	 	Organic anion transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0043252;sodium-independent organic anion transport;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005452;inorganic anion exchanger activity;IBA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015301;anion:anion antiporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A7	https://www.uniprot.org/uniprot/Q9Y694		https://www.ncbi.nlm.nih.gov/omim/?term=604995	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A7&submit=Quick%0D%7495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A7	rs1574430	0.420327	0.4308	0.5406	1	0	0	intronic	intronic	intronic	SLC22A7	SLC22A7	ENSG00000137204,ENSG00000146215	Na	Na	Na	Na	Na	Na	Het;A>C	1752;73|77	Hom;A>C	3357;0|118
N	N	-	6	43269179	43269179	C	A	snp	intronic	 	 	 	 	SLC22A7	Slc22a7	ENSG00000137204	solute carrier family 22 member 7	chr6:43263432-43273276	The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	drug-related genes 	 	Organic anion transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0043252;sodium-independent organic anion transport;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005452;inorganic anion exchanger activity;IBA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015301;anion:anion antiporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A7	https://www.uniprot.org/uniprot/Q9Y694		https://www.ncbi.nlm.nih.gov/omim/?term=604995	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A7&submit=Quick%0D%7495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A7	rs2841648	0.420327	0	0	1	0	0	intronic	intronic	intronic	SLC22A7	SLC22A7	ENSG00000137204,ENSG00000146215	Na	Na	Na	Na	Na	Na	Het;C>A	104;12|4	Hom;C>A	467;0|11
N	N	-	6	43269180	43269180	C	A	snp	intronic	 	 	 	 	SLC22A7	Slc22a7	ENSG00000137204	solute carrier family 22 member 7	chr6:43263432-43273276	The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	drug-related genes 	 	Organic anion transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0043252;sodium-independent organic anion transport;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA	GO:0005452;inorganic anion exchanger activity;IBA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015301;anion:anion antiporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A7	https://www.uniprot.org/uniprot/Q9Y694		https://www.ncbi.nlm.nih.gov/omim/?term=604995	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A7&submit=Quick%0D%7495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A7	rs56401710	0.420327	0	0	1	0	0	intronic	intronic	intronic	SLC22A7	SLC22A7	ENSG00000137204,ENSG00000146215	Na	Na	Na	Na	Na	Na	Het;C>A	104;12|4	Hom;C>A	467;0|11
N	N	-	6	43273604	43273604	A	G	snp	nonsynonymous SNV	T563C	I188T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CRIP3	Crip3	ENSG00000146215	cysteine rich protein 3	chr6:43267448-43276535			Homozygous mutant mice exhibit a decrease in thymocyte cellularity, though thymocyte development and thymic architecture appear to be normal.			GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRIP3	https://www.uniprot.org/uniprot/Q6Q6R5			http://www.informatics.jax.org/searchtool/Search.do?query=CRIP3&submit=Quick%0D%8849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIP3	rs2242416	0.416933	0.4419	0.5337	0.45	5	11	exonic	exonic	exonic	CRIP3	CRIP3	ENSG00000146215	nonsynonymous SNV	nonsynonymous SNV	unknown	CRIP3:NM_206922:exon8:c.T563C:p.I188T,	CRIP3:uc003ouu.1:exon8:c.T563C:p.I188T,	UNKNOWN	Het;A>G	1342;101|68	Hom;A>G	4027;0|145
N	N	-	6	43276390	43276390	G	A	snp	intronic	 	 	 	 	CRIP3	Crip3	ENSG00000146215	cysteine rich protein 3	chr6:43267448-43276535			Homozygous mutant mice exhibit a decrease in thymocyte cellularity, though thymocyte development and thymic architecture appear to be normal.			GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRIP3	https://www.uniprot.org/uniprot/Q6Q6R5			http://www.informatics.jax.org/searchtool/Search.do?query=CRIP3&submit=Quick%0D%8849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIP3	rs2254303	0.432907	0	0	1	0	0	intronic	intronic	intronic	CRIP3	CRIP3	ENSG00000146215	Na	Na	Na	Na	Na	Na	Het;G>A	206;14|10	Hom;G>A	595;0|21
N	N	-	6	43414234	43414234	G	C	snp	intronic	 	 	 	 	ABCC10	Abcc10	ENSG00000124574	ATP binding cassette subfamily C member 10	chr6:43395104-43418168	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]	drug-related genes 	Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells.	ABC-family proteins mediated transport	GO:0006810;transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA	GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC10	https://www.uniprot.org/uniprot/Q5T3U5		https://www.ncbi.nlm.nih.gov/omim/?term=612509	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC10&submit=Quick%0D%5681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC10	rs1214747	0.676518	0.7676	0.7591	1	0	0	intronic	intronic	intronic	ABCC10	ABCC10	ENSG00000124574	Na	Na	Na	Na	Na	Na	Het;G>C	869;29|42	Hom;G>C	1965;0|73
N	N	-	6	43695675	43695675	G	A	snp	ncRNA_intronic	 	 	 	 	AL136131.2																		rs9472114	0.494409	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MRPS18A(dist=40126),VEGFA(dist=42271)	MRPS18A(dist=40126),VEGFA(dist=42271)	ENSG00000236961	Na	Na	Na	Na	Na	Na	Het;G>A	88;9|5	Hom;G>A	574;0|23
N	N	-	6	44320548	44320548	T	A	snp	synonymous SNV	T225A	S75S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SPATS1	Spats1	ENSG00000249481	spermatogenesis associated serine rich 1	chr6:44310397-44344904		Erythrocytes; Hemoglobins	 					http://www.genecards.org/index.php?path=/Search/keyword/SPATS1				http://www.informatics.jax.org/searchtool/Search.do?query=SPATS1&submit=Quick%0D%19924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATS1	rs4714783	0.702077	0.7430	0.7430	1	0	0	exonic	exonic	exonic	SPATS1	SPATS1	ENSG00000249481	synonymous SNV	synonymous SNV	unknown	SPATS1:NM_145026:exon3:c.T225A:p.S75S,	SPATS1:uc021yzz.1:exon3:c.T225A:p.S75S,SPATS1:uc003oxk.3:exon2:c.T225A:p.S75S,	UNKNOWN	Het;T>A	1021;65|50	Hom;T>A	2996;0|111
N	N	-	6	44355423	44355423	C	T	snp	UTR5	-138C>T	 	 	 	CDC5L	Cdc5l	ENSG00000096401	cell division cycle 5 like	chr6:44355262-44418163	The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]	Body Height; Celiac Disease|; Amyotrophic Lateral Sclerosis	 	mRNA Splicing - Major Pathway	GO:0000278;mitotic cell cycle;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006397;mRNA processing;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IBA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0071352;cellular response to interleukin-2;IEA|GO:0072422;signal transduction involved in DNA damage checkpoint;IMP|GO:1904568;cellular response to wortmannin;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990646;cellular response to prolactin;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005662;DNA replication factor A complex;IDA|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0032993;protein-DNA complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0001222;transcription corepressor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0043522;leucine zipper domain binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0071987;WD40-repeat domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDC5L	https://www.uniprot.org/uniprot/Q99459		https://www.ncbi.nlm.nih.gov/omim/?term=602868	http://www.informatics.jax.org/searchtool/Search.do?query=CDC5L&submit=Quick%0D%2282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC5L	rs2297333	0.535343	0	0	1	0	0	UTR5	UTR5	UTR5	CDC5L(NM_001253:c.-138C>T)	CDC5L(uc003oxl.3:c.-138C>T)	ENSG00000096401(ENST00000371477:c.-138C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	147;1|5	Hom;C>T	158;0|6
N	N	-	6	44355682	44355682	G	A	snp	intronic	 	 	 	 	CDC5L	Cdc5l	ENSG00000096401	cell division cycle 5 like	chr6:44355262-44418163	The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]	Body Height; Celiac Disease|; Amyotrophic Lateral Sclerosis	 	mRNA Splicing - Major Pathway	GO:0000278;mitotic cell cycle;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006397;mRNA processing;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IBA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0071352;cellular response to interleukin-2;IEA|GO:0072422;signal transduction involved in DNA damage checkpoint;IMP|GO:1904568;cellular response to wortmannin;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990646;cellular response to prolactin;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005662;DNA replication factor A complex;IDA|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0032993;protein-DNA complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0001222;transcription corepressor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0043522;leucine zipper domain binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0071987;WD40-repeat domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDC5L	https://www.uniprot.org/uniprot/Q99459		https://www.ncbi.nlm.nih.gov/omim/?term=602868	http://www.informatics.jax.org/searchtool/Search.do?query=CDC5L&submit=Quick%0D%2282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC5L	rs2297332	0.551518	0.8421	0	1	0	0	intronic	intronic	intronic	CDC5L	CDC5L	ENSG00000096401	Na	Na	Na	Na	Na	Na	Het;G>A	99;22|7	Hom;G>A	566;0|22
N	N	-	6	44355699	44355699	T	C	snp	intronic	 	 	 	 	CDC5L	Cdc5l	ENSG00000096401	cell division cycle 5 like	chr6:44355262-44418163	The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]	Body Height; Celiac Disease|; Amyotrophic Lateral Sclerosis	 	mRNA Splicing - Major Pathway	GO:0000278;mitotic cell cycle;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006397;mRNA processing;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IBA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0071352;cellular response to interleukin-2;IEA|GO:0072422;signal transduction involved in DNA damage checkpoint;IMP|GO:1904568;cellular response to wortmannin;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990646;cellular response to prolactin;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005662;DNA replication factor A complex;IDA|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0032993;protein-DNA complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0001222;transcription corepressor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0043522;leucine zipper domain binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0071987;WD40-repeat domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDC5L	https://www.uniprot.org/uniprot/Q99459		https://www.ncbi.nlm.nih.gov/omim/?term=602868	http://www.informatics.jax.org/searchtool/Search.do?query=CDC5L&submit=Quick%0D%2282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC5L	rs2297331	0.553115	0	0	1	0	0	intronic	intronic	intronic	CDC5L	CDC5L	ENSG00000096401	Na	Na	Na	Na	Na	Na	Het;T>C	92;15|7	Hom;T>C	359;0|14
N	N	-	6	44360680	44360680	A	G	snp	intronic	 	 	 	 	CDC5L	Cdc5l	ENSG00000096401	cell division cycle 5 like	chr6:44355262-44418163	The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]	Body Height; Celiac Disease|; Amyotrophic Lateral Sclerosis	 	mRNA Splicing - Major Pathway	GO:0000278;mitotic cell cycle;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006397;mRNA processing;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IBA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0071352;cellular response to interleukin-2;IEA|GO:0072422;signal transduction involved in DNA damage checkpoint;IMP|GO:1904568;cellular response to wortmannin;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990646;cellular response to prolactin;IEA	GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005662;DNA replication factor A complex;IDA|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0032993;protein-DNA complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0001222;transcription corepressor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0043522;leucine zipper domain binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0071987;WD40-repeat domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDC5L	https://www.uniprot.org/uniprot/Q99459		https://www.ncbi.nlm.nih.gov/omim/?term=602868	http://www.informatics.jax.org/searchtool/Search.do?query=CDC5L&submit=Quick%0D%2282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC5L	rs6942323	0.534944	0	0	1	0	0	intronic	intronic	intronic	CDC5L	CDC5L	ENSG00000096401	Na	Na	Na	Na	Na	Na	Het;A>G	45;2|2	Hom;A>G	254;0|7
N	N	-	6	44519096	44519096	G	A	snp	intergenic	 	 	 	 	AL136140.1																		rs3734716	0.499401	0	0	1	0	0	intergenic	intergenic	intergenic	CDC5L(dist=100935),SUPT3H(dist=275371)	CDC5L(dist=100935),BX647715(dist=179759)	ENSG00000237530(dist=24605),ENSG00000196284(dist=257958)	Na	Na	Na	Na	Na	Na	Het;G>A	330;16|13	Hom;G>A	580;0|20
N	N	-	6	44900253	44900253	A	G	snp	intronic	 	 	 	 	SUPT3H	Supt3	ENSG00000196284	SPT3 homolog, SAGA and STAGA complex component	chr6:44777054-45345690		height; Occipital Lobe; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Albumins; null; Insulin; Body Height; Attention Deficit Disorder with Hyperactivity	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0016578;histone deubiquitination;IDA|GO:0043966;histone H3 acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0030914;STAGA complex;IDA|GO:0033276;transcription factor TFTC complex;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUPT3H			https://www.ncbi.nlm.nih.gov/omim/?term=602947	http://www.informatics.jax.org/searchtool/Search.do?query=SUPT3H&submit=Quick%0D%16313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT3H	rs3799986	0.587061	0	0	1	0	0	intronic	intronic	intronic	SUPT3H	SUPT3H	ENSG00000196284	Na	Na	Na	Na	Na	Na	Het;A>G	113;5|4	Hom;A>G	266;0|7
N	N	-	6	44921320	44921320	C	T	snp	intronic	 	 	 	 	SUPT3H	Supt3	ENSG00000196284	SPT3 homolog, SAGA and STAGA complex component	chr6:44777054-45345690		height; Occipital Lobe; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Albumins; null; Insulin; Body Height; Attention Deficit Disorder with Hyperactivity	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0016578;histone deubiquitination;IDA|GO:0043966;histone H3 acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0030914;STAGA complex;IDA|GO:0033276;transcription factor TFTC complex;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUPT3H			https://www.ncbi.nlm.nih.gov/omim/?term=602947	http://www.informatics.jax.org/searchtool/Search.do?query=SUPT3H&submit=Quick%0D%16313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT3H	rs10948187	0.474241	0	0	1	0	0	intronic	intronic	intronic	SUPT3H	SUPT3H	ENSG00000196284	Na	Na	Na	Na	Na	Na	Het;C>T	35;2|2	Hom;C>T	199;0|6
N	N	-	6	44947280	44947280	G	C	snp	intronic	 	 	 	 	SUPT3H	Supt3	ENSG00000196284	SPT3 homolog, SAGA and STAGA complex component	chr6:44777054-45345690		height; Occipital Lobe; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Albumins; null; Insulin; Body Height; Attention Deficit Disorder with Hyperactivity	 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0016578;histone deubiquitination;IDA|GO:0043966;histone H3 acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0030914;STAGA complex;IDA|GO:0033276;transcription factor TFTC complex;IDA	GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUPT3H			https://www.ncbi.nlm.nih.gov/omim/?term=602947	http://www.informatics.jax.org/searchtool/Search.do?query=SUPT3H&submit=Quick%0D%16313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT3H	rs67001335	0.657348	0	0	1	0	0	intronic	intronic	intronic	SUPT3H	SUPT3H	ENSG00000196284	Na	Na	Na	Na	Na	Na	Het;G>C	300;9|13	Hom;G>C	442;0|14
N	N	-	6	46621097	46621097	T	A	snp	intronic	 	 	 	 	SLC25A27	Slc25a27	ENSG00000153291	solute carrier family 25 member 27	chr6:46620678-46645930	Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]	Diabetes Mellitus, Type 2; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression; migraine; Multiple Sclerosis; Aging/ Telomere Length; schizophrenia	 	The proton buffering model	GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009409;response to cold;IBA|GO:0010917;negative regulation of mitochondrial membrane potential;IEA|GO:0015992;proton transport;TAS|GO:0035356;cellular triglyceride homeostasis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0046324;regulation of glucose import;IEA|GO:0048839;inner ear development;IEA|GO:0051562;negative regulation of mitochondrial calcium ion concentration;IEA|GO:0051881;regulation of mitochondrial membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0070997;neuron death;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0043025;neuronal cell body;IEA|GO:0045177;apical part of cell;IEA	GO:0022857;transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A27	https://www.uniprot.org/uniprot/O95847		https://www.ncbi.nlm.nih.gov/omim/?term=613725	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A27&submit=Quick%0D%9652ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A27	rs8427	0.513978	0	0	1	0	0	intronic	intronic	intronic	SLC25A27	SLC25A27	ENSG00000153291	Na	Na	Na	Na	Na	Na	Het;T>A	158;12|7	Hom;T>A	497;0|19
N	N	-	6	46777377	46777377	T	C	snp	intronic	 	 	 	 	MEP1A	Mep1a	ENSG00000112818	meprin A subunit alpha	chr6:46761127-46807515		migraine; inflammatory bowel disease 	Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis.		GO:0006508;proteolysis;IEA|GO:0007586;digestion;TAS	GO:0005615;extracellular space;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017090;meprin A complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEP1A	https://www.uniprot.org/uniprot/Q16819		https://www.ncbi.nlm.nih.gov/omim/?term=600388	http://www.informatics.jax.org/searchtool/Search.do?query=MEP1A&submit=Quick%0D%4295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEP1A	rs1833460	0.956869	0	0	1	0	0	intronic	intronic	intronic	MEP1A	MEP1A	ENSG00000112818	Na	Na	Na	Na	Na	Na	Het;T>C	690;25|32	Hom;T>C	1622;1|62
N	N	-	6	46802370	46802370	G	A	snp	synonymous SNV	G1665A	T555T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MEP1A	Mep1a	ENSG00000112818	meprin A subunit alpha	chr6:46761127-46807515		migraine; inflammatory bowel disease 	Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis.		GO:0006508;proteolysis;IEA|GO:0007586;digestion;TAS	GO:0005615;extracellular space;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017090;meprin A complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEP1A	https://www.uniprot.org/uniprot/Q16819		https://www.ncbi.nlm.nih.gov/omim/?term=600388	http://www.informatics.jax.org/searchtool/Search.do?query=MEP1A&submit=Quick%0D%4295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEP1A	rs4714952	0.71226	0.7177	0.6697	1	0	0	exonic	exonic	exonic	MEP1A	MEP1A	ENSG00000112818	synonymous SNV	synonymous SNV	unknown	MEP1A:NM_005588:exon12:c.G1665A:p.T555T,	MEP1A:uc010jzh.1:exon12:c.G1665A:p.T555T,MEP1A:uc011dwg.1:exon12:c.G831A:p.T277T,MEP1A:uc011dwh.1:exon11:c.G1749A:p.T583T,MEP1A:uc011dwi.1:exon10:c.G1365A:p.T455T,	UNKNOWN	Het;G>A	910;67|45	Hom;G>A	2618;2|101
N	N	-	6	46806948	46806948	G	GTTTGGGGCAGCT	indel	UTR3	*75G>GTTTGGGGCAGCT	 	 	 	MEP1A	Mep1a	ENSG00000112818	meprin A subunit alpha	chr6:46761127-46807515		migraine; inflammatory bowel disease 	Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis.		GO:0006508;proteolysis;IEA|GO:0007586;digestion;TAS	GO:0005615;extracellular space;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017090;meprin A complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEP1A	https://www.uniprot.org/uniprot/Q16819		https://www.ncbi.nlm.nih.gov/omim/?term=600388	http://www.informatics.jax.org/searchtool/Search.do?query=MEP1A&submit=Quick%0D%4295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEP1A	rs150225810	0.643371	0	0	1	0	0	UTR3	UTR3	UTR3	MEP1A(NM_005588:c.*75G>GTTTGGGGCAGCT)	MEP1A(uc010jzh.1:c.*75G>GTTTGGGGCAGCT,uc011dwg.1:c.*75G>GTTTGGGGCAGCT,uc011dwh.1:c.*75G>GTTTGGGGCAGCT,uc011dwi.1:c.*75G>GTTTGGGGCAGCT)	ENSG00000112818(ENST00000230588:c.*75G>GTTTGGGGCAGCT)	Na	Na	Na	Na	Na	Na	Het;+TTTGGGGCAGCT	367;26|12	Hom;+TTTGGGGCAGCT	730;0|18
N	N	-	6	46807040	46807040	C	A	snp	UTR3	*167C>A	 	 	 	MEP1A	Mep1a	ENSG00000112818	meprin A subunit alpha	chr6:46761127-46807515		migraine; inflammatory bowel disease 	Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis.		GO:0006508;proteolysis;IEA|GO:0007586;digestion;TAS	GO:0005615;extracellular space;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017090;meprin A complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0004222;metalloendopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MEP1A	https://www.uniprot.org/uniprot/Q16819		https://www.ncbi.nlm.nih.gov/omim/?term=600388	http://www.informatics.jax.org/searchtool/Search.do?query=MEP1A&submit=Quick%0D%4295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEP1A	rs1059276	0.646366	0	0	1	0	0	UTR3	UTR3	UTR3	MEP1A(NM_005588:c.*167C>A)	MEP1A(uc010jzh.1:c.*167C>A,uc011dwg.1:c.*167C>A,uc011dwh.1:c.*167C>A,uc011dwi.1:c.*167C>A)	ENSG00000112818(ENST00000230588:c.*167C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	97;2|4	Hom;C>A	111;0|4
N	N	-	6	46847501	46847501	T	G	snp	intronic	 	 	 	 	ADGRF5	Adgrf5																	rs2273265	0.232029	0	0	1	0	0	intronic	intronic	intronic	ADGRF5	GPR116	ENSG00000069122	Na	Na	Na	Na	Na	Na	Het;T>G	148;7|6	Hom;T>G	537;0|16
N	N	-	6	46871185	46871185	C	T	snp	intronic	 	 	 	 	ADGRF5	Adgrf5																	rs1328965	0.35004	0	0	1	0	0	intronic	intronic	intronic	ADGRF5	GPR116	ENSG00000069122	Na	Na	Na	Na	Na	Na	Het;C>T	587;23|26	Hom;C>T	794;0|28
N	N	-	6	47046929	47046929	G	A	snp	intergenic	 	 	 	 	ADGRF1	Adgrf1																	rs1226544	0.660743	0	0	1	0	0	intergenic	intergenic	intergenic	ADGRF1(dist=36830),TNFRSF21(dist=152334)	GPR110(dist=36847),TNFRSF21(dist=152339)	ENSG00000153292(dist=36830),ENSG00000146072(dist=152339)	Na	Na	Na	Na	Na	Na	Het;G>A	47;4|4	Hom;G>A	159;0|6
N	N	-	6	4715882	4715882	A	G	snp	intronic	 	 	 	 	CDYL	Cdyl	ENSG00000153046	chromodomain Y like	chr6:4706393-4955785	Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]	thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium	Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA	GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDYL	https://www.uniprot.org/uniprot/Q9Y232		https://www.ncbi.nlm.nih.gov/omim/?term=603778	http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL	rs3812183	0.429513	0	0	1	0	0	intergenic	intronic	intronic	NONE(dist=NONE),NONE(dist=NONE)	CDYL	ENSG00000153046	Na	Na	Na	Na	Na	Na	Het;A>G	97;13|6	Hom;A>G	496;0|14
N	N	-	6	4715894	4715894	T	G	snp	intronic	 	 	 	 	CDYL	Cdyl	ENSG00000153046	chromodomain Y like	chr6:4706393-4955785	Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]	thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium	Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA	GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDYL	https://www.uniprot.org/uniprot/Q9Y232		https://www.ncbi.nlm.nih.gov/omim/?term=603778	http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL	rs3812182	0.430112	0	0	1	0	0	intergenic	intronic	intronic	NONE(dist=NONE),NONE(dist=NONE)	CDYL	ENSG00000153046	Na	Na	Na	Na	Na	Na	Het;T>G	154;15|8	Hom;T>G	720;0|24
N	N	-	6	4715923	4715923	G	GT	indel	intronic	 	 	 	 	CDYL	Cdyl	ENSG00000153046	chromodomain Y like	chr6:4706393-4955785	Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]	thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium	Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA	GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDYL	https://www.uniprot.org/uniprot/Q9Y232		https://www.ncbi.nlm.nih.gov/omim/?term=603778	http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL	rs34254931	0.0189696	0	0	1	0	0	intergenic	intronic	intronic	NONE(dist=NONE),NONE(dist=NONE)	CDYL	ENSG00000153046	Na	Na	Na	Na	Na	Na	Het;+T	672;25|29	Hom;+T	1064;0|35
N	N	-	6	47611442	47611442	T	C	snp	intergenic	 	 	 	 	CD2AP	Cd2ap	ENSG00000198087	CD2 associated protein	chr6:47445525-47594999	This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]	Alzheimer Disease; Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome; Hip; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months.	Nephrin family interactions	GO:0006461;protein complex assembly;TAS|GO:0006930;substrate-dependent cell migration, cell extension;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;NAS|GO:0016050;vesicle organization;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;IEA|GO:0032911;negative regulation of transforming growth factor beta1 production;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0048259;regulation of receptor-mediated endocytosis;IEA|GO:0051301;cell division;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0001726;ruffle;IDA|GO:0005737;cytoplasm;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030139;endocytic vesicle;IEA|GO:0031252;cell leading edge;IEA|GO:0031941;filamentous actin;IDA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005172;vascular endothelial growth factor receptor binding;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0017124;SH3 domain binding;IEA|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CD2AP		https://hpo.jax.org/app/browse/search?q=CD2AP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604241	http://www.informatics.jax.org/searchtool/Search.do?query=CD2AP&submit=Quick%0D%16810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD2AP	rs7766527	0.555911	0	0	1	0	0	intergenic	intergenic	intergenic	CD2AP(dist=16446),ADGRF2(dist=12884)	CD2AP(dist=16446),GPR111(dist=12780)	ENSG00000198087(dist=16443),ENSG00000164393(dist=12730)	Na	Na	Na	Na	Na	Na	Het;T>C	39;2|2	Hom;T>C	120;0|6
N	N	-	6	47641307	47641307	G	C	snp	intronic	 	 	 	 	ADGRF2	Adgrf2																	rs1411049	0.516374	0	0	1	0	0	intronic	intronic	intronic	ADGRF2	GPR111	ENSG00000164393	Na	Na	Na	Na	Na	Na	Het;G>C	193;17|9	Hom;G>C	1026;0|35
N	N	-	6	47645772	47645772	G	T	snp	intronic	 	 	 	 	ADGRF2	Adgrf2																	rs9369734	0.516973	0	0	1	0	0	intronic	intronic	intronic	ADGRF2	GPR111	ENSG00000164393	Na	Na	Na	Na	Na	Na	Het;G>T	55;7|3	Hom;G>T	443;0|13
N	N	-	6	47646842	47646842	A	G	snp	nonsynonymous SNV	A239G	Q80R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ADGRF2	Adgrf2																	rs6907125	0.516973	0.5908	0.5935	0.08	1	13	exonic	exonic	exonic	ADGRF2	GPR111	ENSG00000164393	nonsynonymous SNV	nonsynonymous SNV	unknown	ADGRF2:NM_153839:exon5:c.A239G:p.Q80R,	GPR111:uc003oyy.3:exon5:c.A239G:p.Q80R,GPR111:uc010jzj.1:exon4:c.A443G:p.Q148R,	UNKNOWN	Het;A>G	2051;114|97	Hom;A>G	5667;0|207
N	N	-	6	47647004	47647004	C	T	snp	intronic	 	 	 	 	ADGRF2	Adgrf2																	rs6911739	0.521765	0	0	1	0	0	intronic	intronic	intronic	ADGRF2	GPR111	ENSG00000164393	Na	Na	Na	Na	Na	Na	Het;C>T	99;5|5	Hom;C>T	422;0|14
N	N	-	6	47649222	47649222	T	G	snp	synonymous SNV	T723G	S241S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GPR111																		rs8180544	0	0.5939	0.5955	1	0	0	exonic	exonic	exonic	ADGRF2	GPR111	ENSG00000164393	synonymous SNV	synonymous SNV	unknown	ADGRF2:NM_153839:exon7:c.T723G:p.S241S,	GPR111:uc003oyy.3:exon7:c.T723G:p.S241S,GPR111:uc010jzj.1:exon6:c.T927G:p.S309S,	UNKNOWN	Het;T>G	2066;65|88	Hom;T>G	3284;0|118
N	N	-	6	47649573	47649573	C	T	snp	synonymous SNV	C1074T	S358S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GPR111																		rs10807371	0.509385	0.5844	0.5907	1	0	0	exonic	exonic	exonic	ADGRF2	GPR111	ENSG00000164393	synonymous SNV	synonymous SNV	unknown	ADGRF2:NM_153839:exon7:c.C1074T:p.S358S,	GPR111:uc003oyy.3:exon7:c.C1074T:p.S358S,GPR111:uc010jzj.1:exon6:c.C1278T:p.S426S,	UNKNOWN	Het;C>T	1260;78|36	Hom;C>T	4687;1|107
N	N	-	6	47649574	47649574	A	G	snp	nonsynonymous SNV	A1075G	K359E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	ADGRF2	Adgrf2																	rs10807372	0.509385	0.5846	0.5908	0.08	1	13	exonic	exonic	exonic	ADGRF2	GPR111	ENSG00000164393	nonsynonymous SNV	nonsynonymous SNV	unknown	ADGRF2:NM_153839:exon7:c.A1075G:p.K359E,	GPR111:uc003oyy.3:exon7:c.A1075G:p.K359E,GPR111:uc010jzj.1:exon6:c.A1279G:p.K427E,	UNKNOWN	Het;A>G	1260;75|36	Hom;A>G	4687;1|105
N	N	-	6	47649694	47649694	A	G	snp	nonsynonymous SNV	A1195G	I399V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADGRF2	Adgrf2																	rs9381594	0.520966	0.5947	0.5954	0.54	7	13	exonic	exonic	exonic	ADGRF2	GPR111	ENSG00000164393	nonsynonymous SNV	nonsynonymous SNV	unknown	ADGRF2:NM_153839:exon7:c.A1195G:p.I399V,	GPR111:uc003oyy.3:exon7:c.A1195G:p.I399V,GPR111:uc010jzj.1:exon6:c.A1399G:p.I467V,	UNKNOWN	Het;A>G	2206;141|110	Hom;A>G	6373;1|237
N	N	-	6	47654662	47654662	A	G	snp	intronic	 	 	 	 	ADGRF2	Adgrf2																	rs10485315	0.51897	0.5850	0	1	0	0	intronic	intronic	intronic	ADGRF2	GPR111,GPR115	ENSG00000153294,ENSG00000164393	Na	Na	Na	Na	Na	Na	Het;A>G	386;8|17	Hom;A>G	600;0|19
N	N	-	6	47654742	47654742	A	T	snp	synonymous SNV	A1878T	L626L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GPR111																		rs9296573	0.517173	0.5903	0.5944	1	0	0	exonic	exonic	exonic	ADGRF2	GPR111	ENSG00000164393	synonymous SNV	synonymous SNV	unknown	ADGRF2:NM_153839:exon8:c.A1878T:p.L626L,	GPR111:uc003oyy.3:exon8:c.A1878T:p.L626L,	UNKNOWN	Het;A>T	929;30|42	Hom;A>T	1330;1|54
N	N	-	6	47676150	47676150	C	T	snp	intronic	 	 	 	 	ADGRF4	Adgrf4																	rs9369737	0.523363	0	0	1	0	0	intronic	intronic	intronic	ADGRF4	GPR115	ENSG00000153294	Na	Na	Na	Na	Na	Na	Het;C>T	190;6|7	Hom;C>T	408;0|12
N	N	-	6	47678455	47678456	CT	C	indel	intronic	 	 	 	 	ADGRF4	Adgrf4																	rs11356177	0.523363	0	0.6043	1	0	0	intronic	intronic	intronic	ADGRF4	GPR115	ENSG00000153294	Na	Na	Na	Na	Na	Na	Het;-T	411;30|22	Hom;-T	1415;0|53
N	N	-	6	47684591	47684591	G	A	snp	intronic	 	 	 	 	ADGRF4	Adgrf4																	rs1360157	0.51857	0.5907	0.5986	1	0	0	intronic	intronic	intronic	ADGRF4	GPR115	ENSG00000153294	Na	Na	Na	Na	Na	Na	Het;G>A	918;63|48	Hom;G>A	3212;1|121
N	N	-	6	49412275	49412275	T	G	snp	intronic	 	 	 	 	MUT	Mut	ENSG00000146085	methylmalonyl-CoA mutase	chr6:49398073-49430904	This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]	neural tube defects; prostate cancer; Coronary Artery Disease; longevity; Amino Acid Metabolism, Inborn Errors; Acquired Immunodeficiency Syndrome|Disease Progression; homocysteine	Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria.	Propionyl-CoA catabolism	GO:0008152;metabolic process;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0009791;post-embryonic development;IEA|GO:0019626;short-chain fatty acid catabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA	GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS	GO:0003824;catalytic activity;IEA|GO:0004494;methylmalonyl-CoA mutase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0016866;intramolecular transferase activity;IEA|GO:0031419;cobalamin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MUT	https://www.uniprot.org/uniprot/P22033		https://www.ncbi.nlm.nih.gov/omim/?term=609058	http://www.informatics.jax.org/searchtool/Search.do?query=MUT&submit=Quick%0D%8836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUT	rs9381786	0.208466	0	0	1	0	0	intronic	intronic	intronic	MUT	MUT	ENSG00000146085	Na	Na	Na	Na	Na	Na	Het;T>G	409;10|15	Hom;T>G	956;0|30
N	N	-	6	49785074	49785074	C	T	snp	upstream	 	 	 	 	AL121974.1																		rs1429601	0.645168	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	upstream	LOC101927020,LOC101927048	BC067243	ENSG00000235122	Na	Na	Na	Na	Na	Na	Het;C>T	83;20|6	Hom;C>T	1235;0|43
N	N	-	6	5067324	5067324	C	A	snp	upstream	 	 	 	 	AL139094.1																		rs4560685	0.652157	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	upstream	LOC100129461	AK094934	ENSG00000220685	Na	Na	Na	Na	Na	Na	Het;C>A	139;4|5	Hom;C>A	163;0|5
N	N	-	6	5260751	5260751	C	G	snp	intronic	 	 	 	 	LYRM4	Lyrm4	ENSG00000214113	LYR motif containing 4	chr6:5102827-5261172	The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [provided by RefSeq, Sep 2016]	C-Reactive Protein; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Acquired Immunodeficiency Syndrome|Disease Progression; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Cholesterol, LDL; Blood Pressure; Colitis, Ulcerative|Crohn Disease|; Type 2 Diabetes| edema | rosiglitazone; Cholesterol; Body Height	 	Mitochondrial iron-sulfur cluster biogenesis	GO:0044281;small molecule metabolic process;TAS	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0016604;nuclear body;IDA		http://www.genecards.org/index.php?path=/Search/keyword/LYRM4		https://hpo.jax.org/app/browse/search?q=LYRM4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613311	http://www.informatics.jax.org/searchtool/Search.do?query=LYRM4&submit=Quick%0D%18214ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYRM4	rs114666246	0.0251597	0	0	1	0	0	intronic	intronic	intronic	LYRM4	LYRM4	ENSG00000214113	Na	Na	Na	Na	Na	Na	Het;C>G	81;4|4	Hom;C>G	79;0|3
N	N	-	6	52938468	52938469	AT	A	indel	intronic	 	 	 	 	FBXO9	Fbxo9	ENSG00000112146	F-box protein 9	chr6:52916789-52965671	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0016567;protein ubiquitination;IDA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0032006;regulation of TOR signaling;IMP|GO:0043687;post-translational protein modification;TAS|GO:0045087;innate immune response;IEA|GO:0045444;fat cell differentiation;IEA	GO:0000151;ubiquitin ligase complex;NAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXO9	https://www.uniprot.org/uniprot/Q9UK97		https://www.ncbi.nlm.nih.gov/omim/?term=609091	http://www.informatics.jax.org/searchtool/Search.do?query=FBXO9&submit=Quick%0D%4189ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO9	rs575774353	0.914337	0	0.6788	1	0	0	intronic	intronic	intronic	FBXO9	FBXO9	ENSG00000112146	Na	Na	Na	Na	Na	Na	Het;-T	623;6|38	Hom;-T	981;6|50
N	N	-	6	53363487	53363491	GGGCT	G	indel	UTR3	*67_*63delinsC	 	 	 	GCLC	Gclc	ENSG00000001084	glutamate-cysteine ligase catalytic subunit	chr6:53362139-53481768	Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]	Kidney Failure, Chronic; diabetes, type 1 glutamate decarboxylase antibody; methylmercury retention; 2-thiothiazolidine-4-carboxylic acid levels; cystic fibrosis; decreased glutathione production.; alcohol; atherosclerosis; Aging/ Telomere Length; lung cancer; Coronary Disease; null; chronic obstructive pulmonary disease/COPD; Schizophrenia; body burden of methylmercury; hypertension; cognitive trait; immunologic markers among vulcanization workers ; Stroke; lung cancer ; Posttransplantation diabetes mellitus (PTDM); Apoplexy|Constriction, Pathologic|Stroke; myocardial infarct; coronary endothelial vasomotor dysfunction; Pulmonary Disease, Chronic Obstructive; lead and mercury metabolism; berylliosis	Homozygous mutant mice are embryonic lethal. One model shows lethality before E13 while another shows lethality between E7.5-E8.5. In this second model, embryos are arrested at the egg cylinder stage, fail to gastrulate, do not form mesoderm, and exhibitincreased apoptosis.	Glutathione synthesis and recycling	GO:0006534;cysteine metabolic process;IDA|GO:0006536;glutamate metabolic process;IDA|GO:0006749;glutathione metabolic process;IEA|GO:0006750;glutathione biosynthetic process;TAS|GO:0006979;response to oxidative stress;IDA|GO:0007568;aging;IEA|GO:0007584;response to nutrient;IEA|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0009408;response to heat;IDA|GO:0009410;response to xenobiotic stimulus;IEA|GO:0009725;response to hormone;IDA|GO:0014823;response to activity;IEA|GO:0019852;L-ascorbic acid metabolic process;IEA|GO:0031397;negative regulation of protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0044752;response to human chorionic gonadotropin;IEA|GO:0045454;cell redox homeostasis;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0046685;response to arsenic-containing substance;IEA|GO:0046686;response to cadmium ion;IEA|GO:0050880;regulation of blood vessel size;IMP|GO:0051409;response to nitrosative stress;IEA|GO:0051900;regulation of mitochondrial depolarization;IEA|GO:0070555;response to interleukin-1;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IEA|GO:0097069;cellular response to thyroxine stimulus;IEA|GO:2000490;negative regulation of hepatic stellate cell activation;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA	GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017109;glutamate-cysteine ligase complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004357;glutamate-cysteine ligase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016595;glutamate binding;IDA|GO:0016874;ligase activity;IEA|GO:0043531;ADP binding;IDA|GO:0046982;protein heterodimerization activity;IEA|GO:0050662;coenzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GCLC	https://www.uniprot.org/uniprot/P48506	https://hpo.jax.org/app/browse/search?q=GCLC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606857	http://www.informatics.jax.org/searchtool/Search.do?query=GCLC&submit=Quick%0D%277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCLC	rs10604357	0.577276	0	0	1	0	0	UTR3	UTR3	UTR3	GCLC(NM_001498:c.*67_*63delinsC,NM_001197115:c.*67_*63delinsC)	GCLC(uc003pbv.1:c.*67_*63delinsC,uc003pbw.2:c.*67_*63delinsC,uc021zau.1:c.*67_*63delinsC)	ENSG00000001084(ENST00000229416:c.*67_*63delinsC)	Na	Na	Na	Na	Na	Na	Het;-GGCT	338;1|9	Hom;-GGCT	323;0|8
N	N	-	6	53519857	53519857	G	A	snp	synonymous SNV	C214T	L72L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KLHL31	Klhl31	ENSG00000124743	kelch like family member 31	chr6:53512699-53530506		Hypertension	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL31	https://www.uniprot.org/uniprot/Q9H511		https://www.ncbi.nlm.nih.gov/omim/?term=610749	http://www.informatics.jax.org/searchtool/Search.do?query=KLHL31&submit=Quick%0D%5705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL31	rs12210809	0.490415	0.4807	0.5738	1	0	0	exonic	exonic	exonic	KLHL31	KLHL31	ENSG00000124743	synonymous SNV	synonymous SNV	unknown	KLHL31:NM_001003760:exon2:c.C214T:p.L72L,	KLHL31:uc003pcb.4:exon2:c.C214T:p.L72L,	UNKNOWN	Het;G>A	1576;61|60	Hom;G>A	3941;0|127
N	N	-	6	53847672	53847672	A	G	snp	ncRNA_intronic	 	 	 	 	AK056584																		rs9370251	0.552316	0	0.5233	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927189	AK056584	ENSG00000236740	Na	Na	Na	Na	Na	Na	Het;A>G	442;30|23	Hom;A>G	943;0|35
N	N	-	6	53859602	53859602	T	A	snp	ncRNA_exonic	 	 	 	 	LOC101927189																		rs2397151	0.318091	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927189	AK056584	ENSG00000236740	Na	Na	Na	Na	Na	Na	Het;T>A	108;2|5	Hom;T>A	100;0|5
N	N	-	6	54054837	54054837	A	G	snp	intronic	 	 	 	 	MLIP	Mlip	ENSG00000146147	muscular LMNA interacting protein	chr6:53794780-54131078		Tobacco Use Disorder	Mice homozygous for a null allele display increased cardiac sensitivity to induced stress.			GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0016605;PML body;IEA|GO:0031981;nuclear lumen;ISS		http://www.genecards.org/index.php?path=/Search/keyword/MLIP	https://www.uniprot.org/uniprot/Q5VWP3		https://www.ncbi.nlm.nih.gov/omim/?term=614106	http://www.informatics.jax.org/searchtool/Search.do?query=MLIP&submit=Quick%0D%8843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLIP	rs9296739	0.552716	0	0	1	0	0	intronic	intronic	intronic	MLIP	MLIP	ENSG00000146147	Na	Na	Na	Na	Na	Na	Het;A>G	358;8|11	Hom;A>G	432;0|12
N	N	-	6	54079968	54079968	G	A	snp	nonsynonymous SNV	G2716A	G906R	aliphatic,neutral	polar,hydrophilic,charged(+)	MLIP	Mlip	ENSG00000146147	muscular LMNA interacting protein	chr6:53794780-54131078		Tobacco Use Disorder	Mice homozygous for a null allele display increased cardiac sensitivity to induced stress.			GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0016605;PML body;IEA|GO:0031981;nuclear lumen;ISS		http://www.genecards.org/index.php?path=/Search/keyword/MLIP	https://www.uniprot.org/uniprot/Q5VWP3		https://www.ncbi.nlm.nih.gov/omim/?term=614106	http://www.informatics.jax.org/searchtool/Search.do?query=MLIP&submit=Quick%0D%8843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLIP	rs11757700	0.655152	0	0.7491	0.09	1	11	exonic	exonic	exonic	MLIP	MLIP	ENSG00000146147	nonsynonymous SNV	nonsynonymous SNV	unknown	MLIP:NM_001281746:exon12:c.G2716A:p.G906R,	MLIP:uc003pcf.2:exon12:c.G2716A:p.G906R,	UNKNOWN	Het;G>A	584;39|32	Hom;G>A	2131;0|78
N	N	-	6	54095423	54095423	T	C	snp	intronic	 	 	 	 	MLIP	Mlip	ENSG00000146147	muscular LMNA interacting protein	chr6:53794780-54131078		Tobacco Use Disorder	Mice homozygous for a null allele display increased cardiac sensitivity to induced stress.			GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0016605;PML body;IEA|GO:0031981;nuclear lumen;ISS		http://www.genecards.org/index.php?path=/Search/keyword/MLIP	https://www.uniprot.org/uniprot/Q5VWP3		https://www.ncbi.nlm.nih.gov/omim/?term=614106	http://www.informatics.jax.org/searchtool/Search.do?query=MLIP&submit=Quick%0D%8843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLIP	rs816384	0.660144	0	0	1	0	0	intronic	intronic	intronic	MLIP	MLIP	ENSG00000146147	Na	Na	Na	Na	Na	Na	Het;T>C	85;1|3	Hom;T>C	382;0|10
N	N	-	6	5609481	5609481	T	A	snp	ncRNA_exonic	 	 	 	 	HNRNPA1P37																		rs9405854	0.272564	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FARS2	FARS2	ENSG00000218574	Na	Na	Na	Na	Na	Na	Het;T>A	556;5|15	Hom;T>A	614;0|18
N	N	-	6	56112343	56112343	C	G	snp	UTR5	-64927G>C	 	 	 	COL21A1	 	ENSG00000124749	collagen type XXI alpha 1 chain	chr6:55921388-56258892	This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Forced Vital Capacity; Cell Adhesion Molecules; Tobacco Use Disorder; Prostatic Neoplasms; Bipolar Disorder; Stroke; Schizophrenia; Hip	 	Collagen chain trimerization		GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;IDA|GO:0031012;extracellular matrix;IDA		http://www.genecards.org/index.php?path=/Search/keyword/COL21A1	https://www.uniprot.org/uniprot/Q96P44		https://www.ncbi.nlm.nih.gov/omim/?term=610002	http://www.informatics.jax.org/searchtool/Search.do?query=COL21A1&submit=Quick%0D%5706ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL21A1	rs2745367	0.381789	0	0	1	0	0	UTR5	UTR5	UTR5	COL21A1(NM_030820:c.-64927G>C)	COL21A1(uc003pcs.3:c.-64927G>C,uc011dxi.1:c.-64927G>C)	ENSG00000124749(ENST00000244728:c.-64927G>C,ENST00000535941:c.-64927G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	847;50|41	Hom;C>G	1911;0|68
N	N	-	6	56295621	56295621	T	C	snp	ncRNA_intronic	 	 	 	 	RNU6-71P																		rs607271	0.690895	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	RNU6-71P	COL21A1(dist=36729),DST(dist=27164)	ENSG00000124749(dist=36729),ENSG00000220666(dist=1127)	Na	Na	Na	Na	Na	Na	Het;T>C	434;8|17	Hom;T>C	551;1|22
N	N	-	6	564515	564515	G	T	snp	intronic	 	 	 	 	EXOC2	Exoc2	ENSG00000112685	exocyst complex component 2	chr6:485133-693117	The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; tanning; Body Height; Crohn Disease|Crohn's disease; Black vs blond hair color; Black vs red hair color; Hair Color	 	VxPx cargo-targeting to cilium	GO:0001927;exocyst assembly;IBA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0015031;protein transport;IEA|GO:2000535;regulation of entry of bacterium into host cell;IMP	GO:0000145;exocyst;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0017160;Ral GTPase binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC2	https://www.uniprot.org/uniprot/Q96KP1		https://www.ncbi.nlm.nih.gov/omim/?term=615329	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC2&submit=Quick%0D%4276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC2	rs2277096	0.422125	0.3540	0.4629	1	0	0	intronic	intronic	intronic	EXOC2	EXOC2	ENSG00000112685	Na	Na	Na	Na	Na	Na	Het;G>T	484;31|21	Hom;G>T	1359;0|49
N	N	-	6	56896507	56896509	CAA	C	indel	intergenic	 	 	 	 	BEND6	Bend6	ENSG00000151917	BEN domain containing 6	chr6:56819773-56892140			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007399;nervous system development;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IEA	GO:0001106;RNA polymerase II transcription corepressor activity;IGI|GO:0003682;chromatin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BEND6	https://www.uniprot.org/uniprot/Q5SZJ8			http://www.informatics.jax.org/searchtool/Search.do?query=BEND6&submit=Quick%0D%9488ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BEND6	rs142763093	0.513179	0	0	1	0	0	intergenic	intergenic	intergenic	BEND6(dist=4365),KIAA1586(dist=14821)	BEND6(dist=4365),KIAA1586(dist=14875)	ENSG00000151917(dist=4367),ENSG00000168116(dist=14838)	Na	Na	Na	Na	Na	Na	Het;-AA	170;11|11	Hom;-AA	669;6|21
N	N	-	6	572480	572480	G	A	snp	intronic	 	 	 	 	EXOC2	Exoc2	ENSG00000112685	exocyst complex component 2	chr6:485133-693117	The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; tanning; Body Height; Crohn Disease|Crohn's disease; Black vs blond hair color; Black vs red hair color; Hair Color	 	VxPx cargo-targeting to cilium	GO:0001927;exocyst assembly;IBA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0015031;protein transport;IEA|GO:2000535;regulation of entry of bacterium into host cell;IMP	GO:0000145;exocyst;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0017160;Ral GTPase binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC2	https://www.uniprot.org/uniprot/Q96KP1		https://www.ncbi.nlm.nih.gov/omim/?term=615329	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC2&submit=Quick%0D%4276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC2	rs2073009	0.497005	0.5023	0.5345	1	0	0	intronic	intronic	intronic	EXOC2	EXOC2	ENSG00000112685	Na	Na	Na	Na	Na	Na	Het;G>A	674;16|27	Hom;G>A	1157;0|42
N	N	-	6	572714	572714	C	T	snp	intronic	 	 	 	 	EXOC2	Exoc2	ENSG00000112685	exocyst complex component 2	chr6:485133-693117	The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; tanning; Body Height; Crohn Disease|Crohn's disease; Black vs blond hair color; Black vs red hair color; Hair Color	 	VxPx cargo-targeting to cilium	GO:0001927;exocyst assembly;IBA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0015031;protein transport;IEA|GO:2000535;regulation of entry of bacterium into host cell;IMP	GO:0000145;exocyst;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0017160;Ral GTPase binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC2	https://www.uniprot.org/uniprot/Q96KP1		https://www.ncbi.nlm.nih.gov/omim/?term=615329	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC2&submit=Quick%0D%4276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC2	rs12154040	0.467652	0	0	1	0	0	intronic	intronic	intronic	EXOC2	EXOC2	ENSG00000112685	Na	Na	Na	Na	Na	Na	Het;C>T	151;13|8	Hom;C>T	405;0|15
N	N	-	6	57379829	57379829	T	C	snp	intronic	 	 	 	 	PRIM2	Prim2	ENSG00000146143	primase (DNA) subunit 2	chr6:57179603-57513375	This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]	Coronary Artery Disease; Tobacco Use Disorder	 	Processive synthesis on the lagging strand	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;TAS|GO:0006270;DNA replication initiation;TAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005654;nucleoplasm;TAS|GO:0005658;alpha DNA polymerase:primase complex;IBA	GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IBA|GO:0003887;DNA-directed DNA polymerase activity;IBA|GO:0003896;DNA primase activity;TAS|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRIM2	https://www.uniprot.org/uniprot/P49643		https://www.ncbi.nlm.nih.gov/omim/?term=176636	http://www.informatics.jax.org/searchtool/Search.do?query=PRIM2&submit=Quick%0D%8842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIM2	rs7747396	0.628994	0	0	1	0	0	intronic	intronic	intronic	PRIM2	PRIM2	ENSG00000146143	Na	Na	Na	Na	Na	Na	Het;T>C	250;2|12	Hom;T>C	160;0|7
N	N	-	6	58777419	58777419	T	C	snp	intergenic	 	 	 	 	AL591624.1																		rs9632514	0	0	0	1	0	0	intergenic	intergenic	intergenic	GUSBP4(dist=489695),NONE(dist=NONE)	Mir_598(dist=164354),NONE(dist=NONE)	ENSG00000223633(dist=263559),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	906;5|32	Hom;T>C	1617;4|61
N	N	-	6	58779308	58779308	T	C	snp	intergenic	 	 	 	 	AL591624.1																		rs6651018	0	0	0	1	0	0	intergenic	intergenic	intergenic	GUSBP4(dist=491584),NONE(dist=NONE)	Mir_598(dist=166243),NONE(dist=NONE)	ENSG00000223633(dist=265448),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;T>C	758;6|30	Hom;T>C	1819;2|47
N	N	-	6	58779328	58779328	A	G	snp	intergenic	 	 	 	 	AL591624.1																		rs6651019	0	0	0	1	0	0	intergenic	intergenic	intergenic	GUSBP4(dist=491604),NONE(dist=NONE)	Mir_598(dist=166263),NONE(dist=NONE)	ENSG00000223633(dist=265468),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;A>G	1243;4|32	Hom;A>G	1499;2|35
N	N	-	6	597871	597871	G	A	snp	intronic	 	 	 	 	EXOC2	Exoc2	ENSG00000112685	exocyst complex component 2	chr6:485133-693117	The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; tanning; Body Height; Crohn Disease|Crohn's disease; Black vs blond hair color; Black vs red hair color; Hair Color	 	VxPx cargo-targeting to cilium	GO:0001927;exocyst assembly;IBA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0015031;protein transport;IEA|GO:2000535;regulation of entry of bacterium into host cell;IMP	GO:0000145;exocyst;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0017160;Ral GTPase binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC2	https://www.uniprot.org/uniprot/Q96KP1		https://www.ncbi.nlm.nih.gov/omim/?term=615329	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC2&submit=Quick%0D%4276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC2	rs4960092	0.826677	0	0	1	0	0	intronic	intronic	intronic	EXOC2	EXOC2	ENSG00000112685	Na	Na	Na	Na	Na	Na	Het;G>A	209;7|8	Hom;G>A	163;0|6
N	N	-	6	599042	599042	T	A	snp	intronic	 	 	 	 	EXOC2	Exoc2	ENSG00000112685	exocyst complex component 2	chr6:485133-693117	The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Tobacco Use Disorder; tanning; Body Height; Crohn Disease|Crohn's disease; Black vs blond hair color; Black vs red hair color; Hair Color	 	VxPx cargo-targeting to cilium	GO:0001927;exocyst assembly;IBA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0015031;protein transport;IEA|GO:2000535;regulation of entry of bacterium into host cell;IMP	GO:0000145;exocyst;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0017160;Ral GTPase binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXOC2	https://www.uniprot.org/uniprot/Q96KP1		https://www.ncbi.nlm.nih.gov/omim/?term=615329	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC2&submit=Quick%0D%4276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC2	rs2294664	0.481829	0.4849	0.5257	1	0	0	intronic	intronic	intronic	EXOC2	EXOC2	ENSG00000112685	Na	Na	Na	Na	Na	Na	Het;T>A	946;31|38	Hom;T>A	2324;0|79
N	N	-	6	63395943	63395943	C	A	snp	intergenic	 	 	 	 	ENSG00000216072																		rs4392705	0.883187	0	0	1	0	0	intergenic	intergenic	intergenic	KHDRBS2(dist=399843),LGSN(dist=589913)	KHDRBS2(dist=399843),LGSN(dist=589913)	ENSG00000216072(dist=2770),ENSG00000264410(dist=40797)	Na	Na	Na	Na	Na	Na	Het;C>A	131;7|6	Hom;C>A	385;0|14
N	N	-	6	64472270	64472270	A	C	snp	intronic	 	 	 	 	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs4710257	0.288339	0	0	1	0	0	intronic	intronic	intronic	EYS	EYS	ENSG00000118482,ENSG00000188107	Na	Na	Na	Na	Na	Na	Het;A>C	268;4|8	Hom;A>C	278;0|9
N	N	-	6	64574396	64574396	T	TTC	indel	intronic	 	 	 	 	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs10645485	0	0	0	1	0	0	intronic	intronic	intronic	EYS	EYS	ENSG00000188107	Na	Na	Na	Na	Na	Na	Het;+TC	86;6|4	Hom;+TC	429;0|11
N	N	-	6	64590454	64590454	A	G	snp	intronic	 	 	 	 	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs1384324	0.402356	0	0	1	0	0	intronic	intronic	intronic	EYS	EYS	ENSG00000188107	Na	Na	Na	Na	Na	Na	Het;A>G	175;3|9	Hom;A>G	308;0|12
N	N	-	6	64694354	64694354	C	T	snp	nonsynonymous SNV	G6977A	R2326Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs4710457	0.349641	0.3611	0.3632	0.08	1	12	exonic	exonic	exonic	EYS	EYS	ENSG00000188107	nonsynonymous SNV	nonsynonymous SNV	unknown	EYS:NM_001292009:exon35:c.G6977A:p.R2326Q,EYS:NM_001142800:exon35:c.G6977A:p.R2326Q,	EYS:uc011dxt.1:exon15:c.G3713A:p.R1238Q,EYS:uc011dxu.1:exon35:c.G6977A:p.R2326Q,	UNKNOWN	Het;C>T	847;63|47	Hom;C>T	3389;0|129
N	N	-	6	64694560	64694560	G	A	snp	intronic	 	 	 	 	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs1482457	0.348442	0	0	1	0	0	intronic	intronic	intronic	EYS	EYS	ENSG00000188107	Na	Na	Na	Na	Na	Na	Het;G>A	131;7|5	Hom;G>A	527;0|18
N	N	-	6	64708907	64708907	A	C	snp	intronic	 	 	 	 	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs66502009	0.269768	0	0	1	0	0	intronic	intronic	intronic	EYS	EYS	ENSG00000188107	Na	Na	Na	Na	Na	Na	Het;A>C	59;6|3	Hom;A>C	425;0|13
N	N	-	6	65767634	65767634	G	A	snp	intronic	 	 	 	 	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs45628235	0.157947	0	0.2487	1	0	0	intronic	intronic	intronic	EYS	EYS	ENSG00000188107	Na	Na	Na	Na	Na	Na	Het;G>A	976;51|35	Hom;G>A	3743;1|102
N	N	-	6	66112409	66112409	A	G	snp	synonymous SNV	T1146C	N382N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	EYS	 	ENSG00000188107	eyes shut homolog (Drosophila)	chr6:64429876-66417118	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa	Mice with disruptions in this gene are grossly normal and viable through adulthood.		GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYS		https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612424	http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS	rs974110	0.50599	0.5282	0.5165	1	0	0	exonic	exonic	exonic	EYS	EYS	ENSG00000188107	synonymous SNV	synonymous SNV	unknown	EYS:NM_001292009:exon7:c.T1146C:p.N382N,EYS:NM_198283:exon6:c.T1146C:p.N382N,EYS:NM_001142801:exon7:c.T1146C:p.N382N,EYS:NM_001142800:exon7:c.T1146C:p.N382N,	EYS:uc021zbn.1:exon7:c.T1146C:p.N382N,EYS:uc003per.1:exon6:c.T1146C:p.N382N,EYS:uc011dxu.1:exon7:c.T1146C:p.N382N,EYS:uc003peq.3:exon7:c.T1146C:p.N382N,	UNKNOWN	Het;A>G	834;26|40	Hom;A>G	2226;0|86
N	N	-	6	66799009	66799009	G	A	snp	intergenic	 	 	 	 	ADH5P4																		rs207094	0.880391	0	0	1	0	0	intergenic	intergenic	intergenic	SLC25A51P1(dist=299633),LOC102723883(dist=1966234)	SLC25A51P1(dist=299633),LOC648232(dist=1791872)	ENSG00000233859(dist=251062),ENSG00000218890(dist=4315)	Na	Na	Na	Na	Na	Na	Het;G>A	106;2|5	Hom;G>A	143;0|5
N	N	-	6	66803535	66803535	C	A	snp	ncRNA_exonic	 	 	 	 	AL049842.1																		rs2881644	0.673522	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLC25A51P1(dist=304159),LOC102723883(dist=1961708)	SLC25A51P1(dist=304159),LOC648232(dist=1787346)	ENSG00000218890	Na	Na	Na	Na	Na	Na	Het;C>A	1201;50|56	Hom;C>A	2707;1|98
N	N	-	6	66803769	66803769	G	GGTTTCT	indel	ncRNA_exonic	 	 	 	 	AL049842.1																		rs55951409	0.880192	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLC25A51P1(dist=304393),LOC102723883(dist=1961474)	SLC25A51P1(dist=304393),LOC648232(dist=1787112)	ENSG00000218890	Na	Na	Na	Na	Na	Na	Het;+GTTTCT	703;40|20	Hom;+GTTTCT	3175;1|71
N	N	-	6	66804609	66804613	GACTC	G	indel	ncRNA_exonic	 	 	 	 	AL049842.1																		rs147166458	0.676518	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLC25A51P1(dist=305233),LOC102723883(dist=1960630)	SLC25A51P1(dist=305233),LOC648232(dist=1786268)	ENSG00000218890	Na	Na	Na	Na	Na	Na	Het;-ACTC	1171;72|34	Hom;-ACTC	4002;0|89
N	N	-	6	66804622	66804622	G	C	snp	ncRNA_exonic	 	 	 	 	AL049842.1																		rs3925325	0.676717	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SLC25A51P1(dist=305246),LOC102723883(dist=1960621)	SLC25A51P1(dist=305246),LOC648232(dist=1786259)	ENSG00000218890	Na	Na	Na	Na	Na	Na	Het;G>C	1165;77|33	Hom;G>C	3997;0|92
N	N	-	6	67420028	67420028	C	T	snp	downstream	 	 	 	 	AL450336.1																		rs11752870	0.283746	0	0	1	0	0	intergenic	intergenic	downstream	SLC25A51P1(dist=920652),LOC102723883(dist=1345215)	SLC25A51P1(dist=920652),LOC648232(dist=1170853)	ENSG00000270521	Na	Na	Na	Na	Na	Na	Het;C>T	929;30|40	Hom;C>T	2309;0|79
N	N	-	6	7004861	7004861	G	A	snp	intergenic	 	 	 	 	AL139390.1																		rs4640929	0.319888	0	0	1	0	0	intergenic	intergenic	intergenic	LY86(dist=349645),RREB1(dist=102969)	BC039678(dist=274720),RREB1(dist=102969)	ENSG00000203498(dist=9074),ENSG00000251762(dist=35832)	Na	Na	Na	Na	Na	Na	Het;G>A	1180;58|58	Hom;G>A	3083;0|119
N	N	-	6	71238105	71238105	A	G	snp	nonsynonymous SNV	A3086G	D1029G	polar,hydrophilic,charged(-)	aliphatic,neutral	FAM135A	Fam135a	ENSG00000082269	family with sequence similarity 135 member A	chr6:71122644-71270877		Tobacco Use Disorder; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis	 		GO:0044255;cellular lipid metabolic process;IBA		GO:0052689;carboxylic ester hydrolase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/FAM135A	https://www.uniprot.org/uniprot/Q9P2D6			http://www.informatics.jax.org/searchtool/Search.do?query=FAM135A&submit=Quick%0D%1798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM135A	rs2747701	0.339257	0.3475	0.4150	0.46	6	13	exonic	exonic	exonic	FAM135A	FAM135A	ENSG00000082269	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G,FAM135A:NM_001162529:exon14:c.A3725G:p.D1242G,	FAM135A:uc003pfi.3:exon16:c.A3137G:p.D1046G,FAM135A:uc003pfj.3:exon14:c.A3725G:p.D1242G,FAM135A:uc003pfo.1:exon2:c.A1838G:p.D613G,FAM135A:uc003pfl.3:exon14:c.A2726G:p.D909G,FAM135A:uc010kan.2:exon1:c.A62G:p.D21G,FAM135A:uc003pfh.3:exon15:c.A3086G:p.D1029G,FAM135A:uc003pfn.3:exon4:c.A1343G:p.D448G,	UNKNOWN	Het;A>G	1083;52|52	Hom;A>G	2587;0|99
N	N	-	6	71634732	71634732	A	T	snp	intronic	 	 	 	 	B3GAT2	B3gat2	ENSG00000112309	beta-1,3-glucuronyltransferase 2	chr6:71566382-71666741	The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]	Anemia, Sickle Cell; Type 2 Diabetes| edema | rosiglitazone	 	A tetrasaccharide linker sequence is required for GAG synthesis	GO:0005975;carbohydrate metabolic process;IBA|GO:0006486;protein glycosylation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030204;chondroitin sulfate metabolic process;IBA|GO:0050650;chondroitin sulfate proteoglycan biosynthetic process;IBA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015018;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GAT2	https://www.uniprot.org/uniprot/Q9NPZ5		https://www.ncbi.nlm.nih.gov/omim/?term=607497	http://www.informatics.jax.org/searchtool/Search.do?query=B3GAT2&submit=Quick%0D%4225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GAT2	rs2504743	0.539936	0	0	1	0	0	intronic	intronic	intronic	B3GAT2	B3GAT2	ENSG00000112309	Na	Na	Na	Na	Na	Na	Het;A>T	1381;62|66	Hom;A>T	3168;0|119
N	N	-	6	71634826	71634826	C	T	snp	intronic	 	 	 	 	B3GAT2	B3gat2	ENSG00000112309	beta-1,3-glucuronyltransferase 2	chr6:71566382-71666741	The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]	Anemia, Sickle Cell; Type 2 Diabetes| edema | rosiglitazone	 	A tetrasaccharide linker sequence is required for GAG synthesis	GO:0005975;carbohydrate metabolic process;IBA|GO:0006486;protein glycosylation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030204;chondroitin sulfate metabolic process;IBA|GO:0050650;chondroitin sulfate proteoglycan biosynthetic process;IBA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015018;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GAT2	https://www.uniprot.org/uniprot/Q9NPZ5		https://www.ncbi.nlm.nih.gov/omim/?term=607497	http://www.informatics.jax.org/searchtool/Search.do?query=B3GAT2&submit=Quick%0D%4225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GAT2	rs2504741	0.182907	0	0	1	0	0	intronic	intronic	intronic	B3GAT2	B3GAT2	ENSG00000112309	Na	Na	Na	Na	Na	Na	Het;C>T	1387;51|63	Hom;C>T	2841;2|111
N	N	-	6	71665986	71665986	G	A	snp	synonymous SNV	C147T	G49G	aliphatic,neutral	aliphatic,neutral	B3GAT2	B3gat2	ENSG00000112309	beta-1,3-glucuronyltransferase 2	chr6:71566382-71666741	The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]	Anemia, Sickle Cell; Type 2 Diabetes| edema | rosiglitazone	 	A tetrasaccharide linker sequence is required for GAG synthesis	GO:0005975;carbohydrate metabolic process;IBA|GO:0006486;protein glycosylation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030204;chondroitin sulfate metabolic process;IBA|GO:0050650;chondroitin sulfate proteoglycan biosynthetic process;IBA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015018;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GAT2	https://www.uniprot.org/uniprot/Q9NPZ5		https://www.ncbi.nlm.nih.gov/omim/?term=607497	http://www.informatics.jax.org/searchtool/Search.do?query=B3GAT2&submit=Quick%0D%4225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GAT2	rs1574490	0.532748	0.4752	0.5326	1	0	0	exonic	exonic	exonic	B3GAT2	B3GAT2	ENSG00000112309	synonymous SNV	synonymous SNV	unknown	B3GAT2:NM_080742:exon1:c.C147T:p.G49G,	B3GAT2:uc003pfw.3:exon1:c.C147T:p.G49G,B3GAT2:uc003pfv.3:exon1:c.C147T:p.G49G,	UNKNOWN	Het;G>A	919;52|45	Hom;G>A	2524;0|93
N	N	-	6	71666227	71666227	G	A	snp	UTR5	-95C>T	 	 	 	B3GAT2	B3gat2	ENSG00000112309	beta-1,3-glucuronyltransferase 2	chr6:71566382-71666741	The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]	Anemia, Sickle Cell; Type 2 Diabetes| edema | rosiglitazone	 	A tetrasaccharide linker sequence is required for GAG synthesis	GO:0005975;carbohydrate metabolic process;IBA|GO:0006486;protein glycosylation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030204;chondroitin sulfate metabolic process;IBA|GO:0050650;chondroitin sulfate proteoglycan biosynthetic process;IBA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0015018;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GAT2	https://www.uniprot.org/uniprot/Q9NPZ5		https://www.ncbi.nlm.nih.gov/omim/?term=607497	http://www.informatics.jax.org/searchtool/Search.do?query=B3GAT2&submit=Quick%0D%4225ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GAT2	rs9446313	0.531949	0	0	1	0	0	UTR5	UTR5	UTR5	B3GAT2(NM_080742:c.-95C>T)	B3GAT2(uc003pfv.3:c.-95C>T,uc003pfw.3:c.-95C>T)	ENSG00000112309(ENST00000230053:c.-95C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	172;6|9	Hom;G>A	239;0|8
N	N	-	6	72728989	72728989	C	CTGT	indel	intronic	 	 	 	 	RIMS1	Rims1	ENSG00000079841	regulating synaptic membrane exocytosis 1	chr6:72596406-73112845	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]	Cognitive performance ; Cholesterol, HDL; Coronary Artery Disease; Celiac Disease|; Weight Gain; Tobacco Use Disorder; Respiratory Function Tests; Retinal Diseases; Lipoproteins, VLDL	Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.	GABA synthesis, release, reuptake and degradation	GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006887;exocytosis;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0017156;calcium ion regulated exocytosis;TAS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0045055;regulated exocytosis;NAS|GO:0046903;secretion;NAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061025;membrane fusion;NAS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030695;GTPase regulator activity;TAS|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS1	https://www.uniprot.org/uniprot/Q86UR5	https://hpo.jax.org/app/browse/search?q=RIMS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606629	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS1&submit=Quick%0D%1714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS1	rs10665509	0.480831	0	0	1	0	0	intronic	intronic	intronic	RIMS1	RIMS1	ENSG00000079841	Na	Na	Na	Na	Na	Na	Het;+TGT	128;1|4	Hom;+TGT	188;0|5
N	N	-	6	73026478	73026478	A	G	snp	ncRNA_exonic	 	 	 	 	AL035633.1																		rs2807503	0.485823	0	0	1	0	0	intronic	intronic	ncRNA_exonic	RIMS1	RIMS1	ENSG00000218732	Na	Na	Na	Na	Na	Na	Het;A>G	255;8|11	Hom;A>G	195;0|8
N	N	-	6	73026635	73026635	A	G	snp	ncRNA_exonic	 	 	 	 	AL035633.1																		rs6924364	0.127995	0	0	1	0	0	intronic	intronic	ncRNA_exonic	RIMS1	RIMS1	ENSG00000218732	Na	Na	Na	Na	Na	Na	Het;A>G	81;5|5	Hom;A>G	196;0|8
N	N	-	6	73102442	73102442	C	T	snp	synonymous SNV	C1548T	F516F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	RIMS1	Rims1	ENSG00000079841	regulating synaptic membrane exocytosis 1	chr6:72596406-73112845	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]	Cognitive performance ; Cholesterol, HDL; Coronary Artery Disease; Celiac Disease|; Weight Gain; Tobacco Use Disorder; Respiratory Function Tests; Retinal Diseases; Lipoproteins, VLDL	Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.	GABA synthesis, release, reuptake and degradation	GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006887;exocytosis;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0017156;calcium ion regulated exocytosis;TAS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0045055;regulated exocytosis;NAS|GO:0046903;secretion;NAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061025;membrane fusion;NAS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030695;GTPase regulator activity;TAS|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS1	https://www.uniprot.org/uniprot/Q86UR5	https://hpo.jax.org/app/browse/search?q=RIMS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606629	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS1&submit=Quick%0D%1714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS1	rs2815738	0.158746	0.2135	0.2124	1	0	0	exonic	exonic	exonic	RIMS1	RIMS1	ENSG00000079841	synonymous SNV	synonymous SNV	unknown	RIMS1:NM_001168410:exon19:c.C1950T:p.F650F,RIMS1:NM_001168409:exon19:c.C1752T:p.F584F,RIMS1:NM_001168411:exon3:c.C129T:p.F43F,RIMS1:NM_014989:exon31:c.C4548T:p.F1516F,RIMS1:NM_001168408:exon18:c.C1923T:p.F641F,RIMS1:NM_001168407:exon22:c.C2508T:p.F836F,	RIMS1:uc003pgf.3:exon13:c.C1548T:p.F516F,RIMS1:uc011dyd.2:exon19:c.C1950T:p.F650F,RIMS1:uc010kaq.3:exon22:c.C2508T:p.F836F,RIMS1:uc003pgg.3:exon12:c.C1236T:p.F412F,RIMS1:uc011dyf.2:exon5:c.C420T:p.F140F,RIMS1:uc010kar.3:exon19:c.C1752T:p.F584F,RIMS1:uc003pgh.3:exon11:c.C1149T:p.F383F,RIMS1:uc003pge.3:exon14:c.C1668T:p.F556F,RIMS1:uc011dyg.2:exon3:c.C129T:p.F43F,RIMS1:uc003pgd.3:exon15:c.C1746T:p.F582F,RIMS1:uc011dyc.2:exon18:c.C1923T:p.F641F,RIMS1:uc003pgi.3:exon9:c.C996T:p.F332F,RIMS1:uc003pga.4:exon31:c.C4548T:p.F1516F,RIMS1:uc003pgc.3:exon21:c.C2895T:p.F965F,RIMS1:uc011dyb.2:exon19:c.C2739T:p.F913F,RIMS1:uc011dye.2:exon12:c.C966T:p.F322F,	UNKNOWN	Het;C>T	1925;109|99	Hom;C>T	5883;2|230
N	N	-	6	73102522	73102523	AT	A	indel	intronic	 	 	 	 	RIMS1	Rims1	ENSG00000079841	regulating synaptic membrane exocytosis 1	chr6:72596406-73112845	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]	Cognitive performance ; Cholesterol, HDL; Coronary Artery Disease; Celiac Disease|; Weight Gain; Tobacco Use Disorder; Respiratory Function Tests; Retinal Diseases; Lipoproteins, VLDL	Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.	GABA synthesis, release, reuptake and degradation	GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006887;exocytosis;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0017156;calcium ion regulated exocytosis;TAS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0045055;regulated exocytosis;NAS|GO:0046903;secretion;NAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061025;membrane fusion;NAS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030695;GTPase regulator activity;TAS|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS1	https://www.uniprot.org/uniprot/Q86UR5	https://hpo.jax.org/app/browse/search?q=RIMS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606629	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS1&submit=Quick%0D%1714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS1	rs113359739	0.239217	0.2938	0.2592	1	0	0	intronic	intronic	intronic	RIMS1	RIMS1	ENSG00000079841	Na	Na	Na	Na	Na	Na	Het;-T	923;73|53	Hom;-T	3282;0|134
N	N	-	6	73111454	73111454	A	G	snp	UTR3	*1038A>G	 	 	 	RIMS1	Rims1	ENSG00000079841	regulating synaptic membrane exocytosis 1	chr6:72596406-73112845	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]	Cognitive performance ; Cholesterol, HDL; Coronary Artery Disease; Celiac Disease|; Weight Gain; Tobacco Use Disorder; Respiratory Function Tests; Retinal Diseases; Lipoproteins, VLDL	Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.	GABA synthesis, release, reuptake and degradation	GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006887;exocytosis;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0017156;calcium ion regulated exocytosis;TAS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0045055;regulated exocytosis;NAS|GO:0046903;secretion;NAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061025;membrane fusion;NAS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030695;GTPase regulator activity;TAS|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS1	https://www.uniprot.org/uniprot/Q86UR5	https://hpo.jax.org/app/browse/search?q=RIMS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606629	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS1&submit=Quick%0D%1714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS1	rs2815736	0.443291	0	0	1	0	0	UTR3	UTR3	UTR3	RIMS1(NM_014989:c.*1038A>G,NM_001168408:c.*1038A>G,NM_001168407:c.*1038A>G,NM_001168409:c.*1038A>G,NM_001168410:c.*1038A>G,NM_001168411:c.*1038A>G)	RIMS1(uc003pga.4:c.*1038A>G,uc011dyb.2:c.*1038A>G,uc003pgc.3:c.*1038A>G,uc010kaq.3:c.*1038A>G,uc011dyc.2:c.*1038A>G,uc010kar.3:c.*1038A>G,uc011dyd.2:c.*1038A>G,uc003pge.3:c.*1038A>G,uc003pgf.3:c.*1038A>G,uc003pgi.3:c.*1038A>G,uc003pgg.3:c.*1038A>G,uc003pgh.3:c.*1038A>G,uc003pgd.3:c.*1038A>G,uc011dye.2:c.*1038A>G,uc011dyf.2:c.*1038A>G,uc011dyg.2:c.*1038A>G)	ENSG00000079841(ENST00000348717:c.*1038A>G,ENST00000264839:c.*1038A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	623;36|31	Hom;A>G	1959;0|72
N	N	-	6	73111857	73111857	T	TA	indel	UTR3	*1441T>TA	 	 	 	RIMS1	Rims1	ENSG00000079841	regulating synaptic membrane exocytosis 1	chr6:72596406-73112845	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]	Cognitive performance ; Cholesterol, HDL; Coronary Artery Disease; Celiac Disease|; Weight Gain; Tobacco Use Disorder; Respiratory Function Tests; Retinal Diseases; Lipoproteins, VLDL	Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.	GABA synthesis, release, reuptake and degradation	GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006887;exocytosis;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0017156;calcium ion regulated exocytosis;TAS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0045055;regulated exocytosis;NAS|GO:0046903;secretion;NAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061025;membrane fusion;NAS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030695;GTPase regulator activity;TAS|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS1	https://www.uniprot.org/uniprot/Q86UR5	https://hpo.jax.org/app/browse/search?q=RIMS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606629	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS1&submit=Quick%0D%1714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS1	rs537509888	0.142372	0	0	1	0	0	UTR3	UTR3	UTR3	RIMS1(NM_014989:c.*1441T>TA,NM_001168408:c.*1441T>TA,NM_001168407:c.*1441T>TA,NM_001168409:c.*1441T>TA,NM_001168410:c.*1441T>TA,NM_001168411:c.*1441T>TA)	RIMS1(uc003pga.4:c.*1441T>TA,uc011dyb.2:c.*1441T>TA,uc003pgc.3:c.*1441T>TA,uc010kaq.3:c.*1441T>TA,uc011dyc.2:c.*1441T>TA,uc010kar.3:c.*1441T>TA,uc011dyd.2:c.*1441T>TA,uc003pge.3:c.*1441T>TA,uc003pgf.3:c.*1441T>TA,uc003pgi.3:c.*1441T>TA,uc003pgg.3:c.*1441T>TA,uc003pgh.3:c.*1441T>TA,uc003pgd.3:c.*1441T>TA,uc011dye.2:c.*1441T>TA,uc011dyf.2:c.*1441T>TA,uc011dyg.2:c.*1441T>TA)	ENSG00000079841(ENST00000348717:c.*1441T>TA,ENST00000264839:c.*1441T>TA)	Na	Na	Na	Na	Na	Na	Het;+A	295;18|15	Hom;+A	258;2|15
N	N	-	6	73162645	73162645	C	A	snp	intergenic	 	 	 	 	RIMS1	Rims1	ENSG00000079841	regulating synaptic membrane exocytosis 1	chr6:72596406-73112845	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]	Cognitive performance ; Cholesterol, HDL; Coronary Artery Disease; Celiac Disease|; Weight Gain; Tobacco Use Disorder; Respiratory Function Tests; Retinal Diseases; Lipoproteins, VLDL	Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.	GABA synthesis, release, reuptake and degradation	GO:0006461;protein complex assembly;IDA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006887;exocytosis;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007601;visual perception;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0017156;calcium ion regulated exocytosis;TAS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0045055;regulated exocytosis;NAS|GO:0046903;secretion;NAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050790;regulation of catalytic activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061025;membrane fusion;NAS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030695;GTPase regulator activity;TAS|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS1	https://www.uniprot.org/uniprot/Q86UR5	https://hpo.jax.org/app/browse/search?q=RIMS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606629	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS1&submit=Quick%0D%1714ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS1	rs12529223	0.122804	0	0	1	0	0	intergenic	intergenic	intergenic	RIMS1(dist=49800),KCNQ5(dist=168926)	RIMS1(dist=49800),KCNQ5(dist=168926)	ENSG00000079841(dist=49800),ENSG00000217483(dist=69698)	Na	Na	Na	Na	Na	Na	Het;C>A	221;9|10	Hom;C>A	400;1|15
N	N	-	6	73308473	73308473	A	C	snp	ncRNA_exonic	 	 	 	 	FO393414.1																		rs1202104	0.767372	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RIMS1(dist=195628),KCNQ5(dist=23098)	RIMS1(dist=195628),KCNQ5(dist=23098)	ENSG00000181514	Na	Na	Na	Na	Na	Na	Het;A>C	115;4|5	Hom;A>C	761;0|19
N	N	-	6	73308620	73308620	T	G	snp	ncRNA_exonic	 	 	 	 	FO393414.1																		rs1147571	0.767372	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	RIMS1(dist=195775),KCNQ5(dist=22951)	RIMS1(dist=195775),KCNQ5(dist=22951)	ENSG00000181514	Na	Na	Na	Na	Na	Na	Het;T>G	136;13|8	Hom;T>G	436;0|16
N	N	-	6	73388253	73388253	C	CA	indel	ncRNA_exonic	 	 	 	 	KCNQ5-IT1																		rs11452286	0.599441	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	KCNQ5-IT1	KCNQ5	ENSG00000233844	Na	Na	Na	Na	Na	Na	Het;+A	528;40|26	Hom;+A	2375;0|82
N	N	-	6	73487780	73487780	C	A	snp	intronic	 	 	 	 	KCNQ5	Kcnq5	ENSG00000185760	potassium voltage-gated channel subfamily Q member 5	chr6:73331520-73908574	This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]	Iron; Tobacco Use Disorder; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Calcium	Mice homozygous for a dominant negative knock-in mutation in this gene exhibit partial prenatal lethality and abnormal afterhyperpolarization in the in the CA3 area of hippocampus.	Voltage gated Potassium channels	GO:0006461;protein complex assembly;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030118;clathrin coat;IDA	GO:0005216;ion channel activity;IEA|GO:0005242;inward rectifier potassium channel activity;TAS|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNQ5		https://hpo.jax.org/app/browse/search?q=KCNQ5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607357	http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ5&submit=Quick%0D%15484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ5	rs12529830	0.552915	0	0	1	0	0	intronic	intronic	intronic	KCNQ5	KCNQ5	ENSG00000185760	Na	Na	Na	Na	Na	Na	Het;C>A	628;25|29	Hom;C>A	1701;0|66
N	N	-	6	73765813	73765813	C	G	snp	intronic	 	 	 	 	KCNQ5	Kcnq5	ENSG00000185760	potassium voltage-gated channel subfamily Q member 5	chr6:73331520-73908574	This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]	Iron; Tobacco Use Disorder; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Calcium	Mice homozygous for a dominant negative knock-in mutation in this gene exhibit partial prenatal lethality and abnormal afterhyperpolarization in the in the CA3 area of hippocampus.	Voltage gated Potassium channels	GO:0006461;protein complex assembly;NAS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030118;clathrin coat;IDA	GO:0005216;ion channel activity;IEA|GO:0005242;inward rectifier potassium channel activity;TAS|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNQ5		https://hpo.jax.org/app/browse/search?q=KCNQ5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607357	http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ5&submit=Quick%0D%15484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ5	rs1935541	0.591653	0	0	1	0	0	intronic	intronic	intronic	KCNQ5	KCNQ5	ENSG00000185760	Na	Na	Na	Na	Na	Na	Het;C>G	160;22|11	Hom;C>G	728;0|23
N	N	-	6	74879515	74879515	T	C	snp	ncRNA_intronic	 	 	 	 	AF086303																		rs12202740	0.437101	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101928516	AF086303	ENSG00000223786	Na	Na	Na	Na	Na	Na	Het;T>C	40;3|2	Hom;T>C	141;0|4
N	N	-	6	74927012	74927012	T	A	snp	ncRNA_intronic	 	 	 	 	AF086303																		rs2781204	0.458267	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101928516	AF086303	ENSG00000223786	Na	Na	Na	Na	Na	Na	Het;T>A	74;6|5	Hom;T>A	325;0|13
N	N	-	6	75893457	75893458	TA	T	indel	intronic	 	 	 	 	COL12A1	Col12a1	ENSG00000111799	collagen type XII alpha 1 chain	chr6:75794042-75915767	This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	esophageal adenocarcinoma; null; Rupture|Tendon Injuries; Echocardiography	Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation.	Collagen chain trimerization	GO:0001501;skeletal system development;TAS|GO:0007155;cell adhesion;IEA|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005595;collagen type XII trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0030020;extracellular matrix structural constituent conferring tensile strength;NAS	http://www.genecards.org/index.php?path=/Search/keyword/COL12A1	https://www.uniprot.org/uniprot/Q99715	https://hpo.jax.org/app/browse/search?q=COL12A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120320	http://www.informatics.jax.org/searchtool/Search.do?query=COL12A1&submit=Quick%0D%4137ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL12A1	rs36085827	0.838259	0	0	1	0	0	intronic	intronic	intronic	COL12A1	COL12A1	ENSG00000111799	Na	Na	Na	Na	Na	Na	Het;-A	338;2|17	Hom;-A	624;1|27
N	N	-	6	77982389	77982389	T	G	snp	intergenic	 	 	 	 	AL590426.2																		rs10455106	0.438498	0	0	1	0	0	intergenic	intergenic	intergenic	IMPG1(dist=1199994),HTR1B(dist=189559)	IMPG1(dist=1200054),HTR1B(dist=189559)	ENSG00000271945(dist=496812),ENSG00000135312(dist=189559)	Na	Na	Na	Na	Na	Na	Het;T>G	342;22|15	Hom;T>G	1018;0|32
N	N	-	6	78172260	78172260	C	G	snp	synonymous SNV	G861C	V287V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HTR1B	Htr1b	ENSG00000135312	5-hydroxytryptamine receptor 1B	chr6:78171948-78173490	The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]	personality traits; schizophrenia; bipolar disorder; suicide; anorexia nervosa; bulimia; substance abuse; personality; Bulimia; Migraine with Aura|Migraine without Aura; self-harm behavior; schizophrenia; suicide; aggressive behavior; attention deficit hyperactivity disorder; lung cancer ; null; depressive disorder, major; suicide; alcohol consumption; obsessive-compulsive disorder; schizophrenia; antisocial substance dependence.; Autism; substance dependence, antisocial; ADHD | attention-deficit hyperactivity disorder; alcoholism.; Schizophrenia; bipolar disorder; cocaine or alcohol abuse or dependence.; migraine with aura; Epilepsy, Temporal Lobe; alcoholism; Alcoholism; medication overuse headache; body mass; minimum lifetime body mass index; heroin addiction; lung cancer; aggressive behavior; bladder cancer; schizoaffective disorder; alcoholism; bipolar disorder; suicide; obsessive compulsive disorder; suicidal behavior; Deliberate self-harm; depression; alcohol abuse; migraine; aggressive human behaviors; obsessive Compulsive Disorder; major depression; anxiety disorder; alcoholism; depression; narcolepsy; alcohol abuse; cocaine abuse; migraine migraine with aura; Psychiatric Disorders; Type 2 Diabetes| edema | rosiglitazone; suicide; Scoliosis; mood disorders; normal variation; attention deficit disorder conduct disorder oppositional defiant disorder; smoking behavior; Weight Gain; chronic obstructive pulmonary disease; alcohol dependence; several psychiatric disorders; continuous performance task; panic disorder; migraine ; Sleep Apnea, Obstructive	Mice homozygous for a knock-out allele exhibit an increase in body weight, aggression, drinking behavior, and osteoblast proliferation and bone mass, and show altered spatial learning and operant conditional behavior as well as reduced anxiety-related response and startle reflex, and small testes.	G alpha (i) signalling events	GO:0002031;G-protein coupled receptor internalization;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007198;adenylate cyclase-inhibiting serotonin receptor signaling pathway;IDA|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007610;behavior;IEA|GO:0007631;feeding behavior;IEA|GO:0014059;regulation of dopamine secretion;IEA|GO:0014063;negative regulation of serotonin secretion;IEA|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0032229;negative regulation of synaptic transmission, GABAergic;IEA|GO:0035690;cellular response to drug;IDA|GO:0042220;response to cocaine;IEA|GO:0042310;vasoconstriction;IEA|GO:0042493;response to drug;IEA|GO:0042756;drinking behavior;IEA|GO:0045471;response to ethanol;IEA|GO:0046849;bone remodeling;IEA|GO:0050795;regulation of behavior;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0071312;cellular response to alkaloid;IDA|GO:0071502;cellular response to temperature stimulus;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IMP	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IEA|GO:0030594;neurotransmitter receptor activity;IBA|GO:0051378;serotonin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HTR1B	https://www.uniprot.org/uniprot/P28222		https://www.ncbi.nlm.nih.gov/omim/?term=182131	http://www.informatics.jax.org/searchtool/Search.do?query=HTR1B&submit=Quick%0D%7117ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR1B	rs6296	0.338059	0.2494	0.3064	1	0	0	exonic	exonic	exonic	HTR1B	HTR1B	ENSG00000135312	synonymous SNV	synonymous SNV	unknown	HTR1B:NM_000863:exon1:c.G861C:p.V287V,	HTR1B:uc003pil.1:exon1:c.G861C:p.V287V,	UNKNOWN	Het;C>G	1633;72|71	Hom;C>G	5023;0|174
N	N	-	6	78172992	78172992	G	A	snp	synonymous SNV	C129T	S43S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HTR1B	Htr1b	ENSG00000135312	5-hydroxytryptamine receptor 1B	chr6:78171948-78173490	The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]	personality traits; schizophrenia; bipolar disorder; suicide; anorexia nervosa; bulimia; substance abuse; personality; Bulimia; Migraine with Aura|Migraine without Aura; self-harm behavior; schizophrenia; suicide; aggressive behavior; attention deficit hyperactivity disorder; lung cancer ; null; depressive disorder, major; suicide; alcohol consumption; obsessive-compulsive disorder; schizophrenia; antisocial substance dependence.; Autism; substance dependence, antisocial; ADHD | attention-deficit hyperactivity disorder; alcoholism.; Schizophrenia; bipolar disorder; cocaine or alcohol abuse or dependence.; migraine with aura; Epilepsy, Temporal Lobe; alcoholism; Alcoholism; medication overuse headache; body mass; minimum lifetime body mass index; heroin addiction; lung cancer; aggressive behavior; bladder cancer; schizoaffective disorder; alcoholism; bipolar disorder; suicide; obsessive compulsive disorder; suicidal behavior; Deliberate self-harm; depression; alcohol abuse; migraine; aggressive human behaviors; obsessive Compulsive Disorder; major depression; anxiety disorder; alcoholism; depression; narcolepsy; alcohol abuse; cocaine abuse; migraine migraine with aura; Psychiatric Disorders; Type 2 Diabetes| edema | rosiglitazone; suicide; Scoliosis; mood disorders; normal variation; attention deficit disorder conduct disorder oppositional defiant disorder; smoking behavior; Weight Gain; chronic obstructive pulmonary disease; alcohol dependence; several psychiatric disorders; continuous performance task; panic disorder; migraine ; Sleep Apnea, Obstructive	Mice homozygous for a knock-out allele exhibit an increase in body weight, aggression, drinking behavior, and osteoblast proliferation and bone mass, and show altered spatial learning and operant conditional behavior as well as reduced anxiety-related response and startle reflex, and small testes.	G alpha (i) signalling events	GO:0002031;G-protein coupled receptor internalization;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007198;adenylate cyclase-inhibiting serotonin receptor signaling pathway;IDA|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007610;behavior;IEA|GO:0007631;feeding behavior;IEA|GO:0014059;regulation of dopamine secretion;IEA|GO:0014063;negative regulation of serotonin secretion;IEA|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0032229;negative regulation of synaptic transmission, GABAergic;IEA|GO:0035690;cellular response to drug;IDA|GO:0042220;response to cocaine;IEA|GO:0042310;vasoconstriction;IEA|GO:0042493;response to drug;IEA|GO:0042756;drinking behavior;IEA|GO:0045471;response to ethanol;IEA|GO:0046849;bone remodeling;IEA|GO:0050795;regulation of behavior;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0071312;cellular response to alkaloid;IDA|GO:0071502;cellular response to temperature stimulus;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IMP	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IEA|GO:0030594;neurotransmitter receptor activity;IBA|GO:0051378;serotonin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HTR1B	https://www.uniprot.org/uniprot/P28222		https://www.ncbi.nlm.nih.gov/omim/?term=182131	http://www.informatics.jax.org/searchtool/Search.do?query=HTR1B&submit=Quick%0D%7117ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR1B	rs6298	0.340655	0.2493	0.3066	1	0	0	exonic	exonic	exonic	HTR1B	HTR1B	ENSG00000135312	synonymous SNV	synonymous SNV	unknown	HTR1B:NM_000863:exon1:c.C129T:p.S43S,	HTR1B:uc003pil.1:exon1:c.C129T:p.S43S,	UNKNOWN	Het;G>A	1276;62|60	Hom;G>A	2818;2|103
N	N	-	6	78223114	78223114	T	C	snp	intergenic	 	 	 	 	AL390316.1																		rs4708347	0.334864	0	0	1	0	0	intergenic	intergenic	intergenic	HTR1B(dist=49994),MEI4(dist=177259)	HTR1B(dist=49994),SNORD112(dist=423804)	ENSG00000219253(dist=16726),ENSG00000269964(dist=177261)	Na	Na	Na	Na	Na	Na	Het;T>C	130;15|9	Hom;T>C	1036;2|42
N	N	-	6	78223228	78223228	C	T	snp	intergenic	 	 	 	 	AL390316.1																		rs2798960	0.420327	0	0	1	0	0	intergenic	intergenic	intergenic	HTR1B(dist=50108),MEI4(dist=177145)	HTR1B(dist=50108),SNORD112(dist=423690)	ENSG00000219253(dist=16840),ENSG00000269964(dist=177147)	Na	Na	Na	Na	Na	Na	Het;C>T	58;11|5	Hom;C>T	644;0|24
N	N	-	6	78632770	78632770	C	G	snp	intronic	 	 	 	 	MEI4	Mei4	ENSG00000269964	meiotic double-stranded break formation protein 4	chr6:78400375-78636691			Mice homozygous for a knock-out allele show meiotic defects including failure of double strand break formation and homologous synapsis. Mutant spermatocytes appear to arrest at a zygotene-like stage and undergo apoptosis while mutant ovaries show a nearly complete loss of follicles at adulthood.		GO:0006310;DNA recombination;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0042138;meiotic DNA double-strand break formation;IEA|GO:0048477;oogenesis;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000800;lateral element;IEA|GO:0005694;chromosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEI4				http://www.informatics.jax.org/searchtool/Search.do?query=MEI4&submit=Quick%0D%20787ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEI4	rs4598029	0.807708	0	0.7127	1	0	0	intronic	intergenic	intronic	MEI4	HTR1B(dist=459650),SNORD112(dist=14148)	ENSG00000269964	Na	Na	Na	Na	Na	Na	Het;C>G	250;11|10	Hom;C>G	495;0|15
N	N	-	6	78733161	78733161	A	G	snp	intergenic	 	 	 	 	ENSG00000252932																		rs1412171	0.603235	0	0	1	0	0	intergenic	intergenic	intergenic	MEI4(dist=98685),IRAK1BP1(dist=844100)	SNORD112(dist=86173),IRAK1BP1(dist=844100)	ENSG00000252932(dist=86173),ENSG00000230309(dist=581023)	Na	Na	Na	Na	Na	Na	Het;A>G	812;20|36	Hom;A>G	1395;0|50
N	N	-	6	78733261	78733261	A	G	snp	intergenic	 	 	 	 	ENSG00000252932																		rs1412172	0.603035	0	0	1	0	0	intergenic	intergenic	intergenic	MEI4(dist=98785),IRAK1BP1(dist=844000)	SNORD112(dist=86273),IRAK1BP1(dist=844000)	ENSG00000252932(dist=86273),ENSG00000230309(dist=580923)	Na	Na	Na	Na	Na	Na	Het;A>G	70;4|3	Hom;A>G	294;0|8
N	N	-	6	78833101	78833101	A	G	snp	intergenic	 	 	 	 	ENSG00000252932																		rs7775561	0.636781	0	0	1	0	0	intergenic	intergenic	intergenic	MEI4(dist=198625),IRAK1BP1(dist=744160)	SNORD112(dist=186113),IRAK1BP1(dist=744160)	ENSG00000252932(dist=186113),ENSG00000230309(dist=481083)	Na	Na	Na	Na	Na	Na	Het;A>G	491;42|29	Hom;A>G	972;0|38
N	N	-	6	7943101	7943101	T	G	snp	ncRNA_intronic	 	 	 	 	BLOC1S5-TXNDC5	Bloc1s5	ENSG00000259040	BLOC1S5-TXNDC5 readthrough (NMD candidate)	chr6:7881755-8064597	This locus represents naturally occurring read-through transcription between the neighboring MUTED (muted homolog) and TXNDC5 (thioredoxin domain containing 5) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010]		Mutations at this locus cause pigment dilution, prolonged bleeding time, and inner ear abnormalities, modeling Hermansky-Pudlak Syndrome.		GO:0008089;anterograde axonal transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0032474;otolith morphogenesis;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048490;anterograde synaptic vesicle transport;IEA	GO:0030133;transport vesicle;IEA|GO:0031083;BLOC-1 complex;IEA|GO:1904115;axon cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BLOC1S5-TXNDC5				http://www.informatics.jax.org/searchtool/Search.do?query=BLOC1S5-TXNDC5&submit=Quick%0D%20318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BLOC1S5-TXNDC5	rs2748359	0.618211	0	0	1	0	0	ncRNA_intronic	intronic	intronic	BLOC1S5-TXNDC5	BLOC1S5-TXNDC5	ENSG00000239264,ENSG00000259040	Na	Na	Na	Na	Na	Na	Het;T>G	233;22|15	Hom;T>G	1219;0|44
N	N	-	6	8026577	8026577	T	C	snp	ncRNA_intronic	 	 	 	 	EEF1E1-MUTED																		rs9328452	0.69389	0.5966	0.6691	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	BLOC1S5-TXNDC5,EEF1E1-BLOC1S5	EEF1E1-MUTED	ENSG00000188428,ENSG00000239264,ENSG00000259040,ENSG00000265818	Na	Na	Na	Na	Na	Na	Het;T>C	704;35|35	Hom;T>C	1947;0|68
N	N	-	6	8054413	8054413	T	C	snp	ncRNA_intronic	 	 	 	 	EEF1E1-MUTED																		rs2743993	0.70647	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	BLOC1S5-TXNDC5,EEF1E1-BLOC1S5	EEF1E1-MUTED	ENSG00000188428,ENSG00000259040,ENSG00000265818	Na	Na	Na	Na	Na	Na	Het;T>C	525;19|21	Hom;T>C	1150;0|38
N	N	-	6	80751780	80751780	G	A	snp	intronic	 	 	 	 	TTK	Ttk	ENSG00000112742	TTK protein kinase	chr6:80713604-80752244	This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]	colorectal cancer; breast cancer; Alcoholism; Erythrocytes	Mice homozygous for a floxed allele activated in oocytes exhibit reduced female fertility associated with defective spindle assembly checkpoint, premature chromosome segregation, and accelerated anaphase and polar body extrusion.		GO:0006468;protein phosphorylation;IEA|GO:0007051;spindle organization;TAS|GO:0007052;mitotic spindle organization;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0007094;mitotic spindle assembly checkpoint;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;TAS|GO:0016310;phosphorylation;IEA|GO:0016321;female meiosis chromosome segregation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0033316;meiotic spindle assembly checkpoint;IEA|GO:0034501;protein localization to kinetochore;IEA|GO:0034502;protein localization to chromosome;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0051304;chromosome separation;IEA|GO:1903096;protein localization to meiotic spindle midzone;IEA	GO:0000776;kinetochore;IEA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;TAS|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTK	https://www.uniprot.org/uniprot/P33981		https://www.ncbi.nlm.nih.gov/omim/?term=604092	http://www.informatics.jax.org/searchtool/Search.do?query=TTK&submit=Quick%0D%4284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTK	rs652752	0.515974	0.4775	0	1	0	0	intronic	intronic	intronic	TTK	TTK	ENSG00000112742	Na	Na	Na	Na	Na	Na	Het;G>A	223;10|12	Hom;G>A	547;0|21
N	N	-	6	80910571	80910571	G	A	snp	intronic	 	 	 	 	BCKDHB	Bckdhb	ENSG00000083123	branched chain keto acid dehydrogenase E1 subunit beta	chr6:80816364-81055987	This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Calcium; Hemoglobins; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder; maple syrup urine disease; Alcoholism	 	Branched-chain amino acid catabolism	GO:0008152;metabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IMP|GO:0005759;mitochondrial matrix;TAS|GO:0005947;mitochondrial alpha-ketoglutarate dehydrogenase complex;IMP	GO:0003824;catalytic activity;IEA|GO:0003826;alpha-ketoacid dehydrogenase activity;IEA|GO:0003863;3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016831;carboxy-lyase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/BCKDHB	https://www.uniprot.org/uniprot/P21953	https://hpo.jax.org/app/browse/search?q=BCKDHB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=248611	http://www.informatics.jax.org/searchtool/Search.do?query=BCKDHB&submit=Quick%0D%1820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCKDHB	rs9688535	0.0764776	0	0	1	0	0	intronic	intronic	intronic	BCKDHB	BCKDHB	ENSG00000083123	Na	Na	Na	Na	Na	Na	Het;G>A	191;7|7	Hom;G>A	356;0|13
N	N	-	6	81066669	81066670	GC	G	indel	downstream	 	 	 	 	AL359715.4																		rs559294154	0	0	0	1	0	0	intergenic	intergenic	downstream	BCKDHB(dist=10682),FAM46A(dist=1388777)	BCKDHB(dist=10682),FAM46A(dist=1388777)	ENSG00000272129	Na	Na	Na	Na	Na	Na	Het;-C	67;8|5	Hom;-C	135;0|6
N	N	-	6	81354782	81354782	C	T	snp	intergenic	 	 	 	 	AL590824.1																		rs2503751	0.60643	0	0	1	0	0	intergenic	intergenic	intergenic	BCKDHB(dist=298795),FAM46A(dist=1100665)	BCKDHB(dist=298795),FAM46A(dist=1100665)	ENSG00000216352(dist=87876),ENSG00000112773(dist=846374)	Na	Na	Na	Na	Na	Na	Het;C>T	424;16|19	Hom;C>T	600;0|23
N	N	-	6	83075914	83075914	G	A	snp	synonymous SNV	G1236A	T412T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TPBG	Tpbg	ENSG00000283085	trophoblast glycoprotein	chr6:83072923-83080545	This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]	Body Mass Index; Body Weight; Coronary Artery Disease; Body Height; E-Selectin; Heart Failure	Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation.		GO:0007155;cell adhesion;NAS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TPBG	https://www.uniprot.org/uniprot/Q13641		https://www.ncbi.nlm.nih.gov/omim/?term=190920	http://www.informatics.jax.org/searchtool/Search.do?query=TPBG&submit=Quick%0D%22686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPBG	rs700494	0.685703	0.6958	0.6794	1	0	0	exonic	exonic	exonic	TPBG	TPBG	ENSG00000146242	synonymous SNV	synonymous SNV	unknown	TPBG:NM_001166392:exon2:c.G1236A:p.T412T,TPBG:NM_006670:exon3:c.G1236A:p.T412T,	TPBG:uc003pjo.3:exon2:c.G1236A:p.T412T,TPBG:uc003pjn.4:exon3:c.G1236A:p.T412T,TPBG:uc021zcc.1:exon1:c.G1236A:p.T412T,	UNKNOWN	Het;G>A	693;44|34	Hom;G>A	1905;1|74
N	N	-	6	83475896	83475896	T	C	snp	intergenic	 	 	 	 	TPBG	Tpbg	ENSG00000283085	trophoblast glycoprotein	chr6:83072923-83080545	This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]	Body Mass Index; Body Weight; Coronary Artery Disease; Body Height; E-Selectin; Heart Failure	Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation.		GO:0007155;cell adhesion;NAS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TPBG	https://www.uniprot.org/uniprot/Q13641		https://www.ncbi.nlm.nih.gov/omim/?term=190920	http://www.informatics.jax.org/searchtool/Search.do?query=TPBG&submit=Quick%0D%22686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPBG	rs1567818	0.69369	0	0	1	0	0	intergenic	intergenic	intergenic	TPBG(dist=398763),UBE3D(dist=126221)	TPBG(dist=398763),UBE3D(dist=126290)	ENSG00000146242(dist=395351),ENSG00000118420(dist=126221)	Na	Na	Na	Na	Na	Na	Het;T>C	303;26|15	Hom;T>C	1033;0|39
N	N	-	6	83867193	83867193	G	A	snp	intronic	 	 	 	 	DOPEY1	Dopey1	ENSG00000083097	dopey family member 1	chr6:83777385-83881069			 		GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;IBA|GO:0007029;endoplasmic reticulum organization;ISS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;ISS|GO:0005768;endosome;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;IEA		http://www.genecards.org/index.php?path=/Search/keyword/DOPEY1	https://www.uniprot.org/uniprot/Q5JWR5		https://www.ncbi.nlm.nih.gov/omim/?term=616823	http://www.informatics.jax.org/searchtool/Search.do?query=DOPEY1&submit=Quick%0D%1818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOPEY1	rs45480197	0.0109824	0	0	1	0	0	intronic	intronic	intronic	DOPEY1	DOPEY1	ENSG00000083097	Na	Na	Na	Na	Na	Na	Het;G>A	44;9|3	Hom;G>A	150;0|5
N	N	-	6	8488293	8488293	G	GAA	indel	ncRNA_intronic	 	 	 	 	LOC100506207																		rs33987405	0.589457	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC100506207	LOC100506207	ENSG00000124786(dist=52499),ENSG00000251164(dist=164077)	Na	Na	Na	Na	Na	Na	Het;+AA	96;2|4	Hom;+AA	62;0|3
N	N	-	6	86097273	86097273	C	G	snp	ncRNA_exonic	 	 	 	 	AL135903.2																		rs12524265	0.259585	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBX18(dist=623319),NT5E(dist=62029)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;C>G	1376;106|71	Hom;C>G	5462;3|191
N	N	-	6	86097445	86097446	TA	T	indel	ncRNA_exonic	 	 	 	 	AL135903.2																		rs35661954	0.660543	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBX18(dist=623491),NT5E(dist=61856)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;-A	2035;76|101	Hom;-A	4680;1|184
N	N	-	6	86097594	86097594	A	G	snp	ncRNA_exonic	 	 	 	 	AL135903.2																		rs9450262	0.662141	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBX18(dist=623640),NT5E(dist=61708)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;A>G	2031;142|96	Hom;A>G	5928;0|218
N	N	-	6	86098338	86098338	C	T	snp	ncRNA_exonic	 	 	 	 	AL135903.2																		rs532366	0.66274	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBX18(dist=624384),NT5E(dist=60964)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;C>T	1584;61|75	Hom;C>T	3850;0|130
N	N	-	6	86099062	86099062	C	G	snp	ncRNA_exonic	 	 	 	 	AL135903.2																		rs6919028	0.259585	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBX18(dist=625108),NT5E(dist=60240)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;C>G	1531;47|60	Hom;C>G	3174;0|112
N	N	-	6	86099223	86099223	G	C	snp	ncRNA_exonic	 	 	 	 	AL135903.2																		rs16876113	0.259585	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBX18(dist=625269),NT5E(dist=60079)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;G>C	1478;57|64	Hom;G>C	2555;0|93
N	N	-	6	86099343	86099343	A	T	snp	ncRNA_intronic	 	 	 	 	AK024998																		rs16876114	0.222244	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	TBX18(dist=625389),NT5E(dist=59959)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;A>T	240;12|12	Hom;A>T	423;0|14
N	N	-	6	86099731	86099731	C	T	snp	ncRNA_exonic	 	 	 	 	AL135903.2																		rs692830	0.661342	0	0	1	0	0	intergenic	ncRNA_exonic	ncRNA_exonic	TBX18(dist=625777),NT5E(dist=59571)	AK024998	ENSG00000234155	Na	Na	Na	Na	Na	Na	Het;C>T	243;12|11	Hom;C>T	552;0|19
N	N	-	6	86113878	86113878	A	AT	indel	intergenic	 	 	 	 	AL135903.2																		rs397751381	0.211262	0	0	1	0	0	intergenic	intergenic	intergenic	TBX18(dist=639924),NT5E(dist=45424)	AK024998(dist=13974),NT5E(dist=45424)	ENSG00000234155(dist=13974),ENSG00000216439(dist=22497)	Na	Na	Na	Na	Na	Na	Het;+T	165;13|7	Hom;+T	368;0|11
N	N	-	6	87606842	87606842	G	A	snp	ncRNA_exonic	 	 	 	 	AL157777.1																		rs1853639	0.618411	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SNHG5(dist=1218391),HTR1E(dist=40182)	SNHG5(dist=1218391),HTR1E(dist=40182)	ENSG00000217769	Na	Na	Na	Na	Na	Na	Het;G>A	537;26|29	Hom;G>A	1437;0|55
N	N	-	6	88020521	88020521	C	A	snp	intronic	 	 	 	 	GJB7		ENSG00000164411	gap junction protein beta 7	chr6:87992696-88038996	Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]			Gap junction assembly	GO:0007154;cell communication;IEA	GO:0005886;plasma membrane;IEA|GO:0005921;gap junction;IEA|GO:0005922;connexin complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GJB7			https://www.ncbi.nlm.nih.gov/omim/?term=611921	http://www.informatics.jax.org/searchtool/Search.do?query=GJB7&submit=Quick%0D%11303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GJB7	rs59322	0.316893	0	0	1	0	0	intronic	intronic	intronic	GJB7	GJB7	ENSG00000164411	Na	Na	Na	Na	Na	Na	Het;C>A	36;2|2	Hom;C>A	87;0|3
N	N	-	6	88047059	88047059	C	T	snp	intronic	 	 	 	 	SMIM8	Smim8	ENSG00000111850	small integral membrane protein 8	chr6:88032301-88052043			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SMIM8	https://www.uniprot.org/uniprot/Q96KF7			http://www.informatics.jax.org/searchtool/Search.do?query=SMIM8&submit=Quick%0D%4148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMIM8	rs242278	0.395966	0	0	1	0	0	intronic	intronic	intronic	SMIM8	SMIM8	ENSG00000111850,ENSG00000226524	Na	Na	Na	Na	Na	Na	Het;C>T	64;1|3	Hom;C>T	145;0|5
N	N	-	6	88051104	88051105	CA	C	indel	UTR3	*1112_*1113delinsC	 	 	 	SMIM8	Smim8	ENSG00000111850	small integral membrane protein 8	chr6:88032301-88052043			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SMIM8	https://www.uniprot.org/uniprot/Q96KF7			http://www.informatics.jax.org/searchtool/Search.do?query=SMIM8&submit=Quick%0D%4148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMIM8	rs67213671	0.38758	0	0	1	0	0	UTR3	UTR3	UTR3	SMIM8(NM_001287445:c.*65_*66delinsC,NM_020425:c.*1112_*1113delinsC,NM_001042493:c.*1112_*1113delinsC)	SMIM8(uc003plp.1:c.*1112_*1113delinsC,uc003plq.1:c.*1112_*1113delinsC)	ENSG00000111850(ENST00000608353:c.*1112_*1113delinsC,ENST00000392863:c.*1112_*1113delinsC,ENST00000229570:c.*1112_*1113delinsC,ENST00000608525:c.*65_*66delinsC)	Na	Na	Na	Na	Na	Na	Het;-A	1351;35|41	Hom;-A	2286;0|60
N	N	-	6	88107328	88107328	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01590																		rs9344708	0.711861	0	0	1	0	0	ncRNA_exonic	intronic	UTR5	LINC01590	C6orf164	ENSG00000203871(ENST00000369570:c.-605C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	696;46|36	Hom;C>T	1592;0|61
N	N	-	6	88107770	88107770	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01590																		rs926946	0.711462	0	0	1	0	0	ncRNA_exonic	intronic	UTR5	LINC01590	C6orf164	ENSG00000203871(ENST00000369570:c.-163C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	908;37|45	Hom;C>T	1877;0|72
N	N	-	6	88108048	88108051	AGAT	A	indel	nonframeshift substitution	200_203A	 	 	 	C6orf164																		rs368228855	0.711462	0	0.7557	1	0	0	ncRNA_exonic	exonic	exonic	LINC01590	C6orf164	ENSG00000203871	Na	nonframeshift substitution	unknown	Na	C6orf164:uc021zcm.2:exon3:c.200_203A,	UNKNOWN	Het;-GAT	2138;53|56	Hom;-GAT	4707;0|107
N	N	-	6	88109304	88109304	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01590																		rs1051550	0.711462	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	LINC01590	C6orf164(uc021zcm.2:c.*136G>A)	ENSG00000203871(ENST00000369570:c.*81G>A),ENSG00000226524(ENST00000448282:c.*831G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1514;51|67	Hom;G>A	2983;0|113
N	N	-	6	88317292	88317293	CA	C	indel	intronic	 	 	 	 	ORC3	Orc3	ENSG00000135336	origin recognition complex subunit 3	chr6:88299839-88377169	The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]	Leukemia, Lymphocytic, Chronic, B-Cell; longevity	Mice homozygous for a conditional allele activated in the neural cells exhibit reduced neuronal precursor proliferation and reduced radial glial cell.	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;IBA|GO:0061351;neural precursor cell proliferation;IEA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000808;origin recognition complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0016604;nuclear body;IDA|GO:0031261;DNA replication preinitiation complex;IBA	GO:0003677;DNA binding;IEA|GO:0003688;DNA replication origin binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ORC3	https://www.uniprot.org/uniprot/Q9UBD5		https://www.ncbi.nlm.nih.gov/omim/?term=604972	http://www.informatics.jax.org/searchtool/Search.do?query=ORC3&submit=Quick%0D%7126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORC3	rs10706424	0.972045	0	0	1	0	0	intronic	intronic	intronic	ORC3	ORC3	ENSG00000135336	Na	Na	Na	Na	Na	Na	Het;-A	136;1|8	Hom;-A	197;0|10
N	N	-	6	88366708	88366708	C	T	snp	nonsynonymous SNV	C1604T	S535L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ORC3	Orc3	ENSG00000135336	origin recognition complex subunit 3	chr6:88299839-88377169	The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]	Leukemia, Lymphocytic, Chronic, B-Cell; longevity	Mice homozygous for a conditional allele activated in the neural cells exhibit reduced neuronal precursor proliferation and reduced radial glial cell.	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;IBA|GO:0061351;neural precursor cell proliferation;IEA	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000808;origin recognition complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0016604;nuclear body;IDA|GO:0031261;DNA replication preinitiation complex;IBA	GO:0003677;DNA binding;IEA|GO:0003688;DNA replication origin binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ORC3	https://www.uniprot.org/uniprot/Q9UBD5		https://www.ncbi.nlm.nih.gov/omim/?term=604972	http://www.informatics.jax.org/searchtool/Search.do?query=ORC3&submit=Quick%0D%7126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORC3	rs2307373	0.335064	0.3309	0.3873	1	0	0	intronic	exonic	intronic	ORC3	ORC3	ENSG00000135336	Na	nonsynonymous SNV	Na	Na	ORC3:uc011dzm.2:exon15:c.C1604T:p.S535L,ORC3:uc011dzl.2:exon15:c.C1601T:p.S534L,	Na	Het;C>T	712;44|37	Hom;C>T	1939;0|79
N	N	-	6	90556397	90556397	C	CTTTT	indel	ncRNA_intronic	 	 	 	 	CASP8AP2	Casp8ap2	ENSG00000118412	caspase 8 associated protein 2	chr6:90539613-90584155	This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]	Colorectal Neoplasms; benzene haematotoxicity; Lymphoma, Non-Hodgkin; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia	Mice homozygous for disruption of this gene die before implantation.		GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IEA		GO:0002020;protease binding;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CASP8AP2	https://www.uniprot.org/uniprot/A0A087WTW5		https://www.ncbi.nlm.nih.gov/omim/?term=606880	http://www.informatics.jax.org/searchtool/Search.do?query=CASP8AP2&submit=Quick%0D%4969ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CASP8AP2	rs572506102	0	0	0.0793	1	0	0	intronic	intronic	ncRNA_intronic	CASP8AP2	CASP8AP2	ENSG00000118412	Na	Na	Na	Na	Na	Na	Het;+TTTT	1281;8|52	Hom;+TTTT	2297;4|70
N	N	-	6	93700379	93700379	G	T	snp	intergenic	 	 	 	 	ATF1P1																		rs141173439	0.0587061	0	0	1	0	0	intergenic	intergenic	intergenic	CASC6(dist=1300233),EPHA7(dist=249361)	BC037927(dist=1300233),EPHA7(dist=249361)	ENSG00000219387(dist=102080),ENSG00000235099(dist=79726)	Na	Na	Na	Na	Na	Na	Het;G>T	33;2|2	Hom;G>T	113;0|4
N	N	-	6	94328463	94328463	A	T	snp	intergenic	 	 	 	 	EPHA7	Epha7	ENSG00000135333	EPH receptor A7	chr6:93949738-94129265	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Alcoholism; Hemoglobins; Echocardiography; Tobacco Use Disorder	Some homozygous mutants display anencephaly. Mutants also exhibit increased proliferation of neural progenitor cells in the lateral ventricle wall of the adult brain.	EPH-ephrin mediated repulsion of cells	GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007420;brain development;ISS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0022407;regulation of cell-cell adhesion;ISS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0031952;regulation of protein autophosphorylation;ISS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043281;regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043525;positive regulation of neuron apoptotic process;ISS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050919;negative chemotaxis;ISS|GO:0051964;negative regulation of synapse assembly;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IDA|GO:0072178;nephric duct morphogenesis;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008046;axon guidance receptor activity;ISS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045499;chemorepellent activity;ISS|GO:0046875;ephrin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPHA7	https://www.uniprot.org/uniprot/Q15375		https://www.ncbi.nlm.nih.gov/omim/?term=602190	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA7&submit=Quick%0D%7124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA7	rs9354028	0.661741	0	0	1	0	0	intergenic	intergenic	intergenic	EPHA7(dist=199163),TSG1(dist=88338)	EPHA7(dist=199163),TSG1(dist=88338)	ENSG00000135333(dist=199198),ENSG00000252249(dist=260361)	Na	Na	Na	Na	Na	Na	Het;A>T	32;2|2	Hom;A>T	126;0|5
N	N	-	6	94586108	94586108	C	CT	indel	intergenic	 	 	 	 	EPHA7	Epha7	ENSG00000135333	EPH receptor A7	chr6:93949738-94129265	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Alcoholism; Hemoglobins; Echocardiography; Tobacco Use Disorder	Some homozygous mutants display anencephaly. Mutants also exhibit increased proliferation of neural progenitor cells in the lateral ventricle wall of the adult brain.	EPH-ephrin mediated repulsion of cells	GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007420;brain development;ISS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0022407;regulation of cell-cell adhesion;ISS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0031952;regulation of protein autophosphorylation;ISS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043281;regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0043525;positive regulation of neuron apoptotic process;ISS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050919;negative chemotaxis;ISS|GO:0051964;negative regulation of synapse assembly;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IDA|GO:0072178;nephric duct morphogenesis;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005004;GPI-linked ephrin receptor activity;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008046;axon guidance receptor activity;ISS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045499;chemorepellent activity;ISS|GO:0046875;ephrin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPHA7	https://www.uniprot.org/uniprot/Q15375		https://www.ncbi.nlm.nih.gov/omim/?term=602190	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA7&submit=Quick%0D%7124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA7	rs11431294	0.720847	0	0	1	0	0	intergenic	intergenic	intergenic	TSG1(dist=99909),MANEA-AS1(dist=1421864)	TSG1(dist=99909),MANEA(dist=1439265)	ENSG00000135333(dist=456843),ENSG00000252249(dist=2716)	Na	Na	Na	Na	Na	Na	Het;+T	73;3|5	Hom;+T	503;0|13
N	N	-	6	95236145	95236145	C	T	snp	intergenic	 	 	 	 	MTCYBP36																		rs222531	0.559505	0	0	1	0	0	intergenic	intergenic	intergenic	TSG1(dist=749946),MANEA-AS1(dist=771827)	TSG1(dist=749946),MANEA(dist=789228)	ENSG00000216853(dist=79248),ENSG00000219627(dist=715913)	Na	Na	Na	Na	Na	Na	Het;C>T	102;1|4	Hom;C>T	109;0|4
N	N	-	7	100422642	100422642	G	C	snp	UTR5	-1245C>G	 	 	 	EPHB4	Ephb4	ENSG00000196411	EPH receptor B4	chr7:100400187-100425121	Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]	null	Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality.	EPH-ephrin mediated repulsion of cells	GO:0001525;angiogenesis;IEA|GO:0002042;cell migration involved in sprouting angiogenesis;IDA|GO:0003007;heart morphogenesis;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005003;ephrin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPHB4		https://hpo.jax.org/app/browse/search?q=EPHB4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600011	http://www.informatics.jax.org/searchtool/Search.do?query=EPHB4&submit=Quick%0D%16352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHB4	rs314312	0.154553	0	0	1	0	0	intronic	UTR5	intronic	EPHB4	EPHB4(uc003uwm.1:c.-1245C>G)	ENSG00000196411	Na	Na	Na	Na	Na	Na	Het;G>C	36;1|2	Hom;G>C	161;0|7
N	N	-	7	100453208	100453208	T	C	snp	UTR5	-3284T>C	 	 	 	SLC12A9	Slc12a9	ENSG00000146828	solute carrier family 12 member 9	chr7:100424442-100464631		Heart Rate; Coronary Disease	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;TAS|GO:0015379;potassium:chloride symporter activity;IBA|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A9	https://www.uniprot.org/uniprot/Q9BXP2		https://www.ncbi.nlm.nih.gov/omim/?term=616861	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A9&submit=Quick%0D%8917ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A9	rs314370	0.091254	0	0	1	0	0	intronic	UTR5	intronic	SLC12A9	SLC12A9(uc003uwr.3:c.-3284T>C,uc003uws.3:c.-5870T>C)	ENSG00000146828	Na	Na	Na	Na	Na	Na	Het;T>C	256;10|9	Hom;T>C	549;0|14
N	N	-	7	100456595	100456595	G	A	snp	UTR5	-2483G>A	 	 	 	SLC12A9	Slc12a9	ENSG00000146828	solute carrier family 12 member 9	chr7:100424442-100464631		Heart Rate; Coronary Disease	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;TAS|GO:0015379;potassium:chloride symporter activity;IBA|GO:0022820;potassium ion symporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC12A9	https://www.uniprot.org/uniprot/Q9BXP2		https://www.ncbi.nlm.nih.gov/omim/?term=616861	http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A9&submit=Quick%0D%8917ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A9	rs314373	0.091254	0.1431	0.1584	1	0	0	intronic	UTR5	intronic	SLC12A9	SLC12A9(uc003uwv.3:c.-2483G>A)	ENSG00000146828	Na	Na	Na	Na	Na	Na	Het;G>A	808;36|38	Hom;G>A	2461;1|90
N	N	-	7	100465355	100465355	C	T	snp	intronic	 	 	 	 	TRIP6	Trip6	ENSG00000087077	thyroid hormone receptor interactor 6	chr7:100464760-100471076	This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0030335;positive regulation of cell migration;IMP|GO:0048041;focal adhesion assembly;NAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0030054;cell junction;IEA|GO:0045323;interleukin-1 receptor complex;IDA	GO:0003723;RNA binding;IDA|GO:0005149;interleukin-1 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046966;thyroid hormone receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TRIP6	https://www.uniprot.org/uniprot/Q15654		https://www.ncbi.nlm.nih.gov/omim/?term=602933	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP6&submit=Quick%0D%1947ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP6	rs12705089	0.0910543	0	0	1	0	0	intronic	intronic	intronic	TRIP6	TRIP6	ENSG00000087077	Na	Na	Na	Na	Na	Na	Het;C>T	250;5|10	Hom;C>T	356;0|14
N	N	-	7	100471044	100471044	C	T	snp	UTR3	*119C>T	 	 	 	TRIP6	Trip6	ENSG00000087077	thyroid hormone receptor interactor 6	chr7:100464760-100471076	This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0030335;positive regulation of cell migration;IMP|GO:0048041;focal adhesion assembly;NAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0030054;cell junction;IEA|GO:0045323;interleukin-1 receptor complex;IDA	GO:0003723;RNA binding;IDA|GO:0005149;interleukin-1 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046966;thyroid hormone receptor binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/TRIP6	https://www.uniprot.org/uniprot/Q15654		https://www.ncbi.nlm.nih.gov/omim/?term=602933	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP6&submit=Quick%0D%1947ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP6	rs6706	0.0884585	0	0	1	0	0	UTR3	UTR3	UTR3	TRIP6(NM_003302:c.*119C>T)	TRIP6(uc003uww.3:c.*119C>T,uc022ait.1:c.*119C>T,uc022aiu.1:c.*119C>T,uc010lhk.2:c.*119C>T,uc022aiv.1:c.*119C>T)	ENSG00000087077(ENST00000200457:c.*119C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	264;6|10	Hom;C>T	645;0|22
N	N	-	7	100482720	100482720	G	A	snp	intronic	 	 	 	 	SRRT	Srrt	ENSG00000087087	serrate, RNA effector molecule	chr7:100472733-100486285		Heart Rate	Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida.	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SRRT	https://www.uniprot.org/uniprot/Q9BXP5		https://www.ncbi.nlm.nih.gov/omim/?term=614469	http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT	rs3757868	0.0884585	0	0	1	0	0	intronic	intronic	intronic	SRRT	SRRT	ENSG00000087087	Na	Na	Na	Na	Na	Na	Het;G>A	936;18|40	Hom;G>A	1494;3|53
N	N	-	7	100484381	100484381	T	G	snp	intronic	 	 	 	 	SRRT	Srrt	ENSG00000087087	serrate, RNA effector molecule	chr7:100472733-100486285		Heart Rate	Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida.	mRNA Splicing - Major Pathway	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SRRT	https://www.uniprot.org/uniprot/Q9BXP5		https://www.ncbi.nlm.nih.gov/omim/?term=614469	http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT	rs12705095	0.0884585	0.1381	0.1620	1	0	0	intronic	intronic	intronic	SRRT	SRRT	ENSG00000087087	Na	Na	Na	Na	Na	Na	Het;T>G	346;17|15	Hom;T>G	537;2|22
N	N	-	7	100486754	100486754	G	C	snp	nonsynonymous SNV	C139G	L47V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	UFSP1	Ufsp1	ENSG00000176125	UFM1 specific peptidase 1 (inactive)	chr7:100486346-100487339	This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]	Heart Rate	 		GO:0006508;proteolysis;IEA|GO:0008150;biological_process;ND	GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0008234;cysteine-type peptidase activity;IEA|GO:0071567;UFM1 hydrolase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UFSP1			https://www.ncbi.nlm.nih.gov/omim/?term=611481	http://www.informatics.jax.org/searchtool/Search.do?query=UFSP1&submit=Quick%0D%13804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UFSP1	rs12666989	0.0884585	0.1369	0.1560	0.15	2	13	exonic	exonic	exonic	UFSP1	UFSP1	ENSG00000176125	nonsynonymous SNV	nonsynonymous SNV	unknown	UFSP1:NM_001015072:exon1:c.C139G:p.L47V,	UFSP1:uc003uxc.4:exon1:c.C139G:p.L47V,	UNKNOWN	Het;G>C	594;39|29	Hom;G>C	1802;2|66
N	N	-	7	100550925	100550925	G	C	snp	synonymous SNV	G1506C	R502R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MUC3A	Muc3a	ENSG00000169894	mucin 3A, cell surface associated	chr7:100547257-100550424	The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]	ulcerative colitis	 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MUC3A			https://www.ncbi.nlm.nih.gov/omim/?term=158371	http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A	rs10953310	0.958267	0.9259	0.9206	1	0	0	exonic	ncRNA_exonic	upstream;downstream	MUC3A	MUC3B	ENSG00000169894;ENSG00000228273	synonymous SNV	Na	Na	MUC3A:NM_005960:exon2:c.G1506C:p.R502R,	Na	Na	Het;G>C	152;4|5	Hom;G>C	451;0|15
N	N	-	7	100552915	100552915	A	C	snp	synonymous SNV	A1260C	G420G	aliphatic,neutral	aliphatic,neutral	MUC3A	Muc3a	ENSG00000169894	mucin 3A, cell surface associated	chr7:100547257-100550424	The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]	ulcerative colitis	 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MUC3A			https://www.ncbi.nlm.nih.gov/omim/?term=158371	http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A	rs2904852	0.958267	0.9290	0.9331	1	0	0	exonic	exonic	exonic	MUC3A	MUC3A	ENSG00000169894	synonymous SNV	synonymous SNV	unknown	MUC3A:NM_005960:exon3:c.A3390C:p.G1130G,	MUC3A:uc003uxl.1:exon2:c.A1260C:p.G420G,	UNKNOWN	Het;A>C	3524;66|141	Hom;A>C	5150;2|169
N	N	-	7	100637193	100637193	C	A	snp	nonsynonymous SNV	C3349A	P1117T	hydrophobic,neutral	polar,hydrophilic,neutral	MUC12	 	ENSG00000205277	mucin 12, cell surface associated	chr7:100612904-100662230			 	Termination of O-glycan biosynthesis	GO:0001558;regulation of cell growth;NAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MUC12			https://www.ncbi.nlm.nih.gov/omim/?term=604609	http://www.informatics.jax.org/searchtool/Search.do?query=MUC12&submit=Quick%0D%17489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC12	rs10247974	0.264577	0	0.4730	0.11	1	9	exonic	exonic	exonic	MUC12	MUC12	ENSG00000205277	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC12:NM_001164462:exon2:c.C3349A:p.P1117T,	MUC12:uc003uxo.3:exon2:c.C3349A:p.P1117T,	UNKNOWN	Het;C>A	539;5|21	Hom;C>A	380;0|13
N	N	-	7	100637465	100637465	C	T	snp	synonymous SNV	C3621T	T1207T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MUC12	 	ENSG00000205277	mucin 12, cell surface associated	chr7:100612904-100662230			 	Termination of O-glycan biosynthesis	GO:0001558;regulation of cell growth;NAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/MUC12			https://www.ncbi.nlm.nih.gov/omim/?term=604609	http://www.informatics.jax.org/searchtool/Search.do?query=MUC12&submit=Quick%0D%17489ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC12	rs201496632	0.172724	0	0.1937	1	0	0	exonic	exonic	exonic	MUC12	MUC12	ENSG00000205277	synonymous SNV	synonymous SNV	unknown	MUC12:NM_001164462:exon2:c.C3621T:p.T1207T,	MUC12:uc003uxo.3:exon2:c.C3621T:p.T1207T,	UNKNOWN	Het;C>T	732;43|38	Hom;C>T	919;0|34
N	N	-	7	100800635	100800635	G	A	snp	intronic	 	 	 	 	AP1S1	Ap1s1	ENSG00000106367	adaptor related protein complex 1 sigma 1 subunit	chr7:100797678-100804877	The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]	MENTAL RETARDATION ENTEROPATHY DEAFNESS PERIPHERAL NEUROPATHY ICHTHYOSIS AND KERATODERMA	 	Golgi Associated Vesicle Biogenesis	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0009615;response to virus;IEP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0042147;retrograde transport, endosome to Golgi;IEA|GO:0050690;regulation of defense response to virus by virus;TAS	GO:0000139;Golgi membrane;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030121;AP-1 adaptor complex;TAS|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043195;terminal bouton;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0008565;protein transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AP1S1	https://www.uniprot.org/uniprot/P61966	https://hpo.jax.org/app/browse/search?q=AP1S1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603531	http://www.informatics.jax.org/searchtool/Search.do?query=AP1S1&submit=Quick%0D%3491ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1S1	rs2074686	0.440895	0	0.5381	1	0	0	intronic	intronic	intronic	AP1S1	AP1S1	ENSG00000106367	Na	Na	Na	Na	Na	Na	Het;G>A	590;32|32	Hom;G>A	1381;0|52
N	N	-	7	100815279	100815279	G	A	snp	UTR3	*81C>T	 	 	 	NAT16		ENSG00000167011	N-acetyltransferase 16 (putative)	chr7:100813774-100823557					GO:0006473;protein acetylation;IBA		GO:0008080;N-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016747;transferase activity, transferring acyl groups other than amino-acyl groups;IBA	http://www.genecards.org/index.php?path=/Search/keyword/NAT16			https://www.ncbi.nlm.nih.gov/omim/?term=615783	http://www.informatics.jax.org/searchtool/Search.do?query=NAT16&submit=Quick%0D%11932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAT16	rs740103	0.471645	0	0	1	0	0	UTR3	UTR3	UTR3	NAT16(NM_198571:c.*81C>T)	NAT16(uc003uxy.2:c.*81C>T,uc003uxz.2:c.*81C>T)	ENSG00000167011(ENST00000300303:c.*81C>T,ENST00000455377:c.*81C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	39;3|3	Hom;G>A	312;0|12
N	N	-	7	100818101	100818101	A	G	snp	intronic	 	 	 	 	NAT16		ENSG00000167011	N-acetyltransferase 16 (putative)	chr7:100813774-100823557					GO:0006473;protein acetylation;IBA		GO:0008080;N-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016747;transferase activity, transferring acyl groups other than amino-acyl groups;IBA	http://www.genecards.org/index.php?path=/Search/keyword/NAT16			https://www.ncbi.nlm.nih.gov/omim/?term=615783	http://www.informatics.jax.org/searchtool/Search.do?query=NAT16&submit=Quick%0D%11932ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAT16	rs733965	0.488419	0.5201	0.5939	1	0	0	intronic	intronic	intronic	NAT16	NAT16	ENSG00000167011	Na	Na	Na	Na	Na	Na	Het;A>G	715;36|30	Hom;A>G	1314;0|43
N	N	-	7	101146201	101146201	G	A	snp	intronic	 	 	 	 	COL26A1	Col26a1	ENSG00000160963	collagen type XXVI alpha 1 chain	chr7:101006101-101202304	This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Arteries; Myocardial Infarction; asthma; Blood Flow Velocity	 	Collagen chain trimerization	GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0031012;extracellular matrix;IDA		http://www.genecards.org/index.php?path=/Search/keyword/COL26A1			https://www.ncbi.nlm.nih.gov/omim/?term=608927	http://www.informatics.jax.org/searchtool/Search.do?query=COL26A1&submit=Quick%0D%10539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL26A1	rs73712178	0.118411	0	0	1	0	0	intronic	intronic	intronic	COL26A1	COL26A1	ENSG00000160963	Na	Na	Na	Na	Na	Na	Het;G>A	32;2|2	Hom;G>A	107;0|5
N	N	-	7	101712397	101712397	G	A	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs431821	0.878994	0	0	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;G>A	112;8|7	Hom;G>A	143;0|6
N	N	-	7	101713567	101713567	T	C	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs377587	0.879393	0.8255	0	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;T>C	75;4|3	Hom;T>C	136;0|4
N	N	-	7	101713590	101713590	T	C	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs377612	0.879393	0.8272	0.8528	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;T>C	107;7|4	Hom;T>C	297;0|8
N	N	-	7	101740606	101740606	T	G	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs1637257	0.484225	0.6613	0.5272	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;T>G	296;18|9	Hom;T>G	1041;0|24
N	N	-	7	101740610	101740610	C	A	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs1734879	0.484225	0.6612	0.5275	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;C>A	317;18|10	Hom;C>A	1111;0|26
N	N	-	7	101740827	101740827	T	TTC	indel	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs10638510	0.482827	0	0.5275	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;+TC	1323;30|36	Hom;+TC	2709;0|62
N	N	-	7	101747575	101747575	A	G	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs201480	0.531949	0.6705	0.5636	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;A>G	305;14|12	Hom;A>G	259;0|8
N	N	-	7	101747593	101747593	G	GT	indel	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs371174192	0.357029	0.4074	0.4153	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;+T	341;17|21	Hom;+T	531;0|20
N	N	-	7	101754865	101754865	T	C	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs201493	0.516573	0	0	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;T>C	185;6|6	Hom;T>C	56;0|2
N	N	-	7	101758584	101758584	G	A	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs201501	0.362819	0.4881	0.4366	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;G>A	96;29|8	Hom;G>A	1048;0|40
N	N	-	7	101916647	101916647	A	G	snp	synonymous SNV	A1128G	A376A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs813000	0.733626	0.8095	0.7296	1	0	0	exonic	exonic	exonic	CUX1	CUX1	ENSG00000257923	synonymous SNV	synonymous SNV	unknown	CUX1:NM_001202544:exon14:c.A1218G:p.A406A,CUX1:NM_001913:exon15:c.A1266G:p.A422A,CUX1:NM_181500:exon15:c.A1260G:p.A420A,CUX1:NM_001202546:exon14:c.A1149G:p.A383A,CUX1:NM_001202545:exon14:c.A1128G:p.A376A,	CUX1:uc003uyw.3:exon14:c.A1128G:p.A376A,CUX1:uc003uyt.3:exon15:c.A1266G:p.A422A,CUX1:uc003uyu.3:exon15:c.A1260G:p.A420A,CUX1:uc011kkn.2:exon14:c.A1149G:p.A383A,CUX1:uc003uyv.3:exon14:c.A1218G:p.A406A,	UNKNOWN	Het;A>G	1365;63|65	Hom;A>G	2859;2|113
N	N	-	7	101917647	101917647	A	G	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs712839	0.734225	0.7998	0	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;A>G	995;20|39	Hom;A>G	1298;0|45
N	N	-	7	101923315	101923315	T	TC	indel	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs371965540	0.731829	0.8087	0.7303	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;+C	532;64|31	Hom;+C	2904;0|83
N	N	-	7	101925338	101925338	A	G	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs2257738	0.60603	0	0	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;A>G	65;5|3	Hom;A>G	126;0|4
N	N	-	7	101926228	101926228	T	C	snp	intronic	 	 	 	 	CUX1	Cux1	ENSG00000257923	cut like homeobox 1	chr7:101458959-101927249	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]	Myocardial Infarction; Inflammatory Bowel Diseases; hair thickness; Stroke; Tobacco Use Disorder	Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.	Intra-Golgi traffic	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0000301;retrograde transport, vesicle recycling within Golgi;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0007275;multicellular organism development;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048193;Golgi vesicle transport;IBA|GO:0050775;positive regulation of dendrite morphogenesis;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0030674;protein binding, bridging;IEA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CUX1		https://hpo.jax.org/app/browse/search?q=CUX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116896	http://www.informatics.jax.org/searchtool/Search.do?query=CUX1&submit=Quick%0D%20253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUX1	rs803070	0.606829	0	0	1	0	0	intronic	intronic	intronic	CUX1	CUX1	ENSG00000257923	Na	Na	Na	Na	Na	Na	Het;T>C	53;2|4	Hom;T>C	255;0|9
N	N	-	7	101928495	101928495	G	C	snp	nonsynonymous SNV	G46C	A16P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SH2B2	Sh2b2	ENSG00000160999	SH2B adaptor protein 2	chr7:101928405-101962178	The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]	prostate-specific antigen levels	Inactivation of this gene results in increased insulin sensitivity accompanied by hypoinsulinemia.		GO:0001922;B-1 B cell homeostasis;IEA|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0019222;regulation of metabolic process;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0046578;regulation of Ras protein signal transduction;IEA|GO:0050776;regulation of immune response;IEA|GO:0050851;antigen receptor-mediated signaling pathway;IEA|GO:0050873;brown fat cell differentiation;IEA	GO:0001725;stress fiber;IEA|GO:0001726;ruffle;IEA|GO:0005829;cytosol;IDA|GO:0005884;actin filament;IEA	GO:0004871;signal transducer activity;IEA|GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;IEA|GO:0005070;SH3/SH2 adaptor activity;IEA|GO:0035591;signaling adaptor activity;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH2B2			https://www.ncbi.nlm.nih.gov/omim/?term=605300	http://www.informatics.jax.org/searchtool/Search.do?query=SH2B2&submit=Quick%0D%10545ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2B2	rs803074	0.538538	0.6371	0.6012	1	0	0	exonic	exonic	exonic	SH2B2	SH2B2	ENSG00000160999	unknown	nonsynonymous SNV	unknown	UNKNOWN	SH2B2:uc011kko.2:exon1:c.G46C:p.A16P,	UNKNOWN	Het;G>C	980;57|50	Hom;G>C	2853;0|109
N	N	-	7	101928585	101928585	G	A	snp	intronic	 	 	 	 	SH2B2	Sh2b2	ENSG00000160999	SH2B adaptor protein 2	chr7:101928405-101962178	The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]	prostate-specific antigen levels	Inactivation of this gene results in increased insulin sensitivity accompanied by hypoinsulinemia.		GO:0001922;B-1 B cell homeostasis;IEA|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0019222;regulation of metabolic process;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0046578;regulation of Ras protein signal transduction;IEA|GO:0050776;regulation of immune response;IEA|GO:0050851;antigen receptor-mediated signaling pathway;IEA|GO:0050873;brown fat cell differentiation;IEA	GO:0001725;stress fiber;IEA|GO:0001726;ruffle;IEA|GO:0005829;cytosol;IDA|GO:0005884;actin filament;IEA	GO:0004871;signal transducer activity;IEA|GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;IEA|GO:0005070;SH3/SH2 adaptor activity;IEA|GO:0035591;signaling adaptor activity;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SH2B2			https://www.ncbi.nlm.nih.gov/omim/?term=605300	http://www.informatics.jax.org/searchtool/Search.do?query=SH2B2&submit=Quick%0D%10545ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2B2	rs803075	0.445288	0	0.5337	1	0	0	intronic	intronic	intronic	SH2B2	SH2B2	ENSG00000160999	Na	Na	Na	Na	Na	Na	Het;G>A	443;27|21	Hom;G>A	1108;0|38
N	N	-	7	103162370	103162370	C	T	snp	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs10282605	0.747604	0	0	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;C>T	36;3|2	Hom;C>T	202;0|6
N	N	-	7	103206001	103206001	G	GA	indel	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs35268159	0.250799	0.2705	0.3149	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;+A	463;30|29	Hom;+A	1310;5|59
N	N	-	7	103207234	103207234	T	C	snp	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs362726	0.473642	0.4673	0.4137	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;T>C	871;29|38	Hom;T>C	2258;0|84
N	N	-	7	103251161	103251161	G	C	snp	nonsynonymous SNV	C2989G	L997V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs362691	0.121006	0.0969	0.1166	0.31	4	13	exonic	exonic	exonic	RELN	RELN	ENSG00000189056	nonsynonymous SNV	nonsynonymous SNV	unknown	RELN:NM_173054:exon22:c.C2989G:p.L997V,RELN:NM_005045:exon22:c.C2989G:p.L997V,	RELN:uc022ajr.1:exon22:c.C2989G:p.L997V,RELN:uc010liz.3:exon22:c.C2989G:p.L997V,RELN:uc022ajq.1:exon22:c.C2989G:p.L997V,	UNKNOWN	Het;G>C	986;57|51	Hom;G>C	2795;0|102
N	N	-	7	103512400	103512400	A	C	snp	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs9791440	0.201877	0	0	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;A>C	222;19|14	Hom;A>C	896;0|35
N	N	-	7	103512454	103512454	T	A	snp	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs9792001	0.201078	0	0	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;T>A	240;16|14	Hom;T>A	1223;0|30
N	N	-	7	103512477	103512477	A	T	snp	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs9791441	0.452476	0	0	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;A>T	397;8|11	Hom;A>T	1052;0|24
N	N	-	7	103512491	103512499	TTTTTTTTC	T	indel	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs371626354	0	0	0	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;-TTTTTTTC	359;8|10	Hom;-TTTTTTTC	863;0|20
N	N	-	7	103512503	103512503	T	A	snp	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs9792003	0	0	0	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;T>A	374;6|10	Hom;T>A	827;0|17
N	N	-	7	103512519	103512519	T	A	snp	intronic	 	 	 	 	RELN	Reln	ENSG00000189056	reelin	chr7:103112231-103629963	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]	Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis	Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.	Reelin signalling pathway	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA	GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RELN		https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600514	http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN	rs200497413	0.192292	0	0	1	0	0	intronic	intronic	intronic	RELN	RELN	ENSG00000189056	Na	Na	Na	Na	Na	Na	Het;T>A	335;5|9	Hom;T>A	467;0|8
N	N	-	7	103835752	103835752	G	A	snp	intronic	 	 	 	 	ORC5	Orc5	ENSG00000164815	origin recognition complex subunit 5	chr7:103766788-103848495	The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]	Narcolepsy; Celiac Disease|	 	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000808;origin recognition complex;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;TAS|GO:0003674;molecular_function;ND|GO:0003688;DNA replication origin binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ORC5			https://www.ncbi.nlm.nih.gov/omim/?term=602331	http://www.informatics.jax.org/searchtool/Search.do?query=ORC5&submit=Quick%0D%11393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORC5	rs16873424	0.114217	0.1247	0.0751	1	0	0	intronic	intronic	intronic	ORC5	ORC5	ENSG00000164815	Na	Na	Na	Na	Na	Na	Het;G>A	297;26|16	Hom;G>A	1310;2|44
N	N	-	7	103838112	103838112	C	A	snp	intronic	 	 	 	 	ORC5	Orc5	ENSG00000164815	origin recognition complex subunit 5	chr7:103766788-103848495	The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]	Narcolepsy; Celiac Disease|	 	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000808;origin recognition complex;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;TAS|GO:0003674;molecular_function;ND|GO:0003688;DNA replication origin binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ORC5			https://www.ncbi.nlm.nih.gov/omim/?term=602331	http://www.informatics.jax.org/searchtool/Search.do?query=ORC5&submit=Quick%0D%11393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORC5	rs59290626	0.144569	0.1445	0	1	0	0	intronic	intronic	intronic	ORC5	ORC5	ENSG00000164815	Na	Na	Na	Na	Na	Na	Het;C>A	275;7|12	Hom;C>A	633;0|22
N	N	-	7	103838148	103838148	G	A	snp	intronic	 	 	 	 	ORC5	Orc5	ENSG00000164815	origin recognition complex subunit 5	chr7:103766788-103848495	The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]	Narcolepsy; Celiac Disease|	 	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000808;origin recognition complex;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;TAS|GO:0003674;molecular_function;ND|GO:0003688;DNA replication origin binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ORC5			https://www.ncbi.nlm.nih.gov/omim/?term=602331	http://www.informatics.jax.org/searchtool/Search.do?query=ORC5&submit=Quick%0D%11393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORC5	rs7784705	0.263379	0.2682	0.2558	1	0	0	intronic	intronic	intronic	ORC5	ORC5	ENSG00000164815	Na	Na	Na	Na	Na	Na	Het;G>A	381;13|18	Hom;G>A	1006;0|38
N	N	-	7	103898533	103898533	T	C	snp	intergenic	 	 	 	 	ORC5	Orc5	ENSG00000164815	origin recognition complex subunit 5	chr7:103766788-103848495	The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]	Narcolepsy; Celiac Disease|	 	Removal of licensing factors from origins	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS	GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000808;origin recognition complex;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;TAS|GO:0003674;molecular_function;ND|GO:0003688;DNA replication origin binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ORC5			https://www.ncbi.nlm.nih.gov/omim/?term=602331	http://www.informatics.jax.org/searchtool/Search.do?query=ORC5&submit=Quick%0D%11393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORC5	rs73183169	0.034345	0	0	1	0	0	intergenic	intergenic	intergenic	ORC5(dist=50038),LHFPL3(dist=70571)	ORC5(dist=50038),LHFPL3(dist=70571)	ENSG00000164815(dist=50038),ENSG00000187416(dist=70571)	Na	Na	Na	Na	Na	Na	Het;T>C	35;5|2	Hom;T>C	144;0|5
N	N	-	7	104319738	104319738	A	G	snp	intronic	 	 	 	 	LHFPL3	Lhfpl3	ENSG00000187416	lipoma HMGIC fusion partner-like 3	chr7:103969104-104549001	This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]	Autism; Hypertrophy, Left Ventricular; Tobacco Use Disorder; Hypertension; Stroke; Obesity	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LHFPL3			https://www.ncbi.nlm.nih.gov/omim/?term=609719	http://www.informatics.jax.org/searchtool/Search.do?query=LHFPL3&submit=Quick%0D%15822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHFPL3	rs10233987	0.501797	0	0	1	0	0	intronic	intronic	intronic	LHFPL3	LHFPL3	ENSG00000187416	Na	Na	Na	Na	Na	Na	Het;A>G	681;23|30	Hom;A>G	2123;0|79
N	N	-	7	104319788	104319788	T	C	snp	intronic	 	 	 	 	LHFPL3	Lhfpl3	ENSG00000187416	lipoma HMGIC fusion partner-like 3	chr7:103969104-104549001	This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]	Autism; Hypertrophy, Left Ventricular; Tobacco Use Disorder; Hypertension; Stroke; Obesity	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LHFPL3			https://www.ncbi.nlm.nih.gov/omim/?term=609719	http://www.informatics.jax.org/searchtool/Search.do?query=LHFPL3&submit=Quick%0D%15822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHFPL3	rs10279337	0.501597	0	0	1	0	0	intronic	intronic	intronic	LHFPL3	LHFPL3	ENSG00000187416	Na	Na	Na	Na	Na	Na	Het;T>C	771;10|20	Hom;T>C	1720;0|48
N	N	-	7	104319876	104319876	T	C	snp	intronic	 	 	 	 	LHFPL3	Lhfpl3	ENSG00000187416	lipoma HMGIC fusion partner-like 3	chr7:103969104-104549001	This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]	Autism; Hypertrophy, Left Ventricular; Tobacco Use Disorder; Hypertension; Stroke; Obesity	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LHFPL3			https://www.ncbi.nlm.nih.gov/omim/?term=609719	http://www.informatics.jax.org/searchtool/Search.do?query=LHFPL3&submit=Quick%0D%15822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LHFPL3	rs10279375	0.503195	0	0	1	0	0	intronic	intronic	intronic	LHFPL3	LHFPL3	ENSG00000187416	Na	Na	Na	Na	Na	Na	Het;T>C	108;2|4	Hom;T>C	165;0|5
N	N	-	7	105254085	105254085	T	C	snp	UTR3	*2271A>G	 	 	 	ATXN7L1	Atxn7l1	ENSG00000146776	ataxin 7 like 1	chr7:105245514-105517050		Iron	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATXN7L1	https://www.uniprot.org/uniprot/Q9ULK2			http://www.informatics.jax.org/searchtool/Search.do?query=ATXN7L1&submit=Quick%0D%8913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN7L1	rs57819574	0.300719	0	0	1	0	0	intronic	UTR3	UTR3	ATXN7L1	ATXN7L1(uc003vdg.4:c.*74A>G,uc003vdh.4:c.*74A>G)	ENSG00000146776(ENST00000474433:c.*2271A>G,ENST00000484475:c.*74A>G,ENST00000388807:c.*74A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	219;5|8	Hom;T>C	314;0|10
N	N	-	7	106542692	106542694	CTT	C	indel	intronic	 	 	 	 	PIK3CG	Pik3cg	ENSG00000105851	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma	chr7:106505723-106547590	Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]	Hepatitis C|Remission, Spontaneous; Anticonvulsants; Insulin Resistance|Obesity, Morbid; several psychiatric disorders; esophageal adenocarcinoma; HIV; breast cancer; Hypercholesterolemia|LDLC levels; longevity; mean platelet volume; BMI- Edema rosiglitazone or pioglitazone; Autism	Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration.	G beta:gamma signalling through PI3Kgamma	GO:0001525;angiogenesis;IEA|GO:0001816;cytokine production;TAS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0002250;adaptive immune response;TAS|GO:0002376;immune system process;IEA|GO:0002407;dendritic cell chemotaxis;TAS|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002679;respiratory burst involved in defense response;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006897;endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0010818;T cell chemotaxis;TAS|GO:0010897;negative regulation of triglyceride catabolic process;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0016310;phosphorylation;IDA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0032252;secretory granule localization;IEA|GO:0033628;regulation of cell adhesion mediated by integrin;TAS|GO:0035747;natural killer cell chemotaxis;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042098;T cell proliferation;TAS|GO:0042110;T cell activation;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043303;mast cell degranulation;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045087;innate immune response;TAS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055118;negative regulation of cardiac muscle contraction;TAS|GO:0070527;platelet aggregation;TAS|GO:0071320;cellular response to cAMP;IEA|GO:0072672;neutrophil extravasation;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA|GO:2000270;negative regulation of fibroblast apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IEA|GO:0005944;phosphatidylinositol 3-kinase complex, class IB;IDA|GO:0016020;membrane;IDA|GO:0042629;mast cell granule;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0046875;ephrin receptor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIK3CG	https://www.uniprot.org/uniprot/P48736		https://www.ncbi.nlm.nih.gov/omim/?term=601232	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3CG&submit=Quick%0D%3399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3CG	rs3074767	0.421725	0	0	1	0	0	intronic	intronic	intronic	PIK3CG	PIK3CG	ENSG00000105851	Na	Na	Na	Na	Na	Na	Het;-TT	41;2|2	Hom;-TT	233;0|6
N	N	-	7	107217068	107217069	TG	T	indel	intronic	 	 	 	 	DUS4L	Dus4l	ENSG00000284103	dihydrouridine synthase 4 like	chr7:107203929-107218906		Osteoarthritis, Knee	 		GO:0002943;tRNA dihydrouridine synthesis;IEA|GO:0008033;tRNA processing;IEA|GO:0055114;oxidation-reduction process;IEA		GO:0003824;catalytic activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0017150;tRNA dihydrouridine synthase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DUS4L	https://www.uniprot.org/uniprot/O95620			http://www.informatics.jax.org/searchtool/Search.do?query=DUS4L&submit=Quick%0D%22921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUS4L	rs3839819	0.79972	0.8037	0.7844	1	0	0	intronic	intronic	intronic	DUS4L	DUS4L	ENSG00000105865	Na	Na	Na	Na	Na	Na	Het;-G	1829;58|74	Hom;-G	4172;1|139
N	N	-	7	107218033	107218033	T	C	snp	UTR3	*28T>C	 	 	 	DUS4L	Dus4l	ENSG00000284103	dihydrouridine synthase 4 like	chr7:107203929-107218906		Osteoarthritis, Knee	 		GO:0002943;tRNA dihydrouridine synthesis;IEA|GO:0008033;tRNA processing;IEA|GO:0055114;oxidation-reduction process;IEA		GO:0003824;catalytic activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0017150;tRNA dihydrouridine synthase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DUS4L	https://www.uniprot.org/uniprot/O95620			http://www.informatics.jax.org/searchtool/Search.do?query=DUS4L&submit=Quick%0D%22921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUS4L	rs711442	0.363818	0.3318	0.4529	1	0	0	UTR3	UTR3	UTR3	DUS4L(NM_181581:c.*28T>C,NM_001270419:c.*28T>C)	DUS4L(uc003veh.4:c.*28T>C,uc011klx.3:c.*28T>C,uc031syv.1:c.*28T>C,uc031syw.1:c.*28T>C,uc031syx.1:c.*28T>C,uc010ljl.3:c.*28T>C)	ENSG00000105865(ENST00000265720:c.*28T>C,ENST00000422290:c.*548T>C,ENST00000402620:c.*28T>C,ENST00000431839:c.*591T>C,ENST00000443233:c.*684T>C,ENST00000436411:c.*591T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	2531;107|119	Hom;T>C	6045;1|219
N	N	-	7	107260778	107260778	G	A	snp	UTR3	*1970G>A	 	 	 	BCAP29	Bcap29	ENSG00000283852	B-cell receptor associated protein 29	chr7:107220422-107269615		Narcolepsy; Osteoarthritis, Knee; Coronary Artery Disease; Lipoproteins, LDL	 		GO:0006886;intracellular protein transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BCAP29	https://www.uniprot.org/uniprot/Q9UHQ4			http://www.informatics.jax.org/searchtool/Search.do?query=BCAP29&submit=Quick%0D%22823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAP29	rs2807	0.805911	0	0	1	0	0	UTR3	UTR3	UTR3	BCAP29(NM_018844:c.*1970G>A,NM_001008405:c.*1728G>A)	BCAP29(uc003vej.2:c.*1970G>A,uc011kly.1:c.*1970G>A,uc011kma.1:c.*1728G>A)	ENSG00000075790(ENST00000005259:c.*1970G>A,ENST00000379119:c.*1728G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1679;101|78	Hom;G>A	4018;0|147
N	N	-	7	107260856	107260856	A	G	snp	UTR3	*2048A>G	 	 	 	BCAP29	Bcap29	ENSG00000283852	B-cell receptor associated protein 29	chr7:107220422-107269615		Narcolepsy; Osteoarthritis, Knee; Coronary Artery Disease; Lipoproteins, LDL	 		GO:0006886;intracellular protein transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BCAP29	https://www.uniprot.org/uniprot/Q9UHQ4			http://www.informatics.jax.org/searchtool/Search.do?query=BCAP29&submit=Quick%0D%22823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAP29	rs2808	0.741414	0	0	1	0	0	UTR3	UTR3	UTR3	BCAP29(NM_018844:c.*2048A>G,NM_001008405:c.*1806A>G)	BCAP29(uc003vej.2:c.*2048A>G,uc011kly.1:c.*2048A>G,uc011kma.1:c.*1806A>G)	ENSG00000075790(ENST00000005259:c.*2048A>G,ENST00000379119:c.*1806A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	2397;84|104	Hom;A>G	3486;0|122
N	N	-	7	107261556	107261556	C	T	snp	UTR3	*2748C>T	 	 	 	BCAP29	Bcap29	ENSG00000283852	B-cell receptor associated protein 29	chr7:107220422-107269615		Narcolepsy; Osteoarthritis, Knee; Coronary Artery Disease; Lipoproteins, LDL	 		GO:0006886;intracellular protein transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BCAP29	https://www.uniprot.org/uniprot/Q9UHQ4			http://www.informatics.jax.org/searchtool/Search.do?query=BCAP29&submit=Quick%0D%22823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAP29	rs10274041	0.741414	0	0	1	0	0	UTR3	UTR3	UTR3	BCAP29(NM_018844:c.*2748C>T,NM_001008405:c.*2506C>T)	BCAP29(uc003vej.2:c.*2748C>T,uc011kly.1:c.*2748C>T,uc011kma.1:c.*2506C>T)	ENSG00000075790(ENST00000005259:c.*2748C>T,ENST00000379119:c.*2506C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1803;86|81	Hom;C>T	3994;0|139
N	N	-	7	107262558	107262558	T	A	snp	UTR3	*3508T>A	 	 	 	BCAP29	Bcap29	ENSG00000283852	B-cell receptor associated protein 29	chr7:107220422-107269615		Narcolepsy; Osteoarthritis, Knee; Coronary Artery Disease; Lipoproteins, LDL	 		GO:0006886;intracellular protein transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BCAP29	https://www.uniprot.org/uniprot/Q9UHQ4			http://www.informatics.jax.org/searchtool/Search.do?query=BCAP29&submit=Quick%0D%22823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAP29	rs2894475	0.741414	0	0	1	0	0	UTR3	UTR3	UTR3	BCAP29(NM_018844:c.*3750T>A,NM_001008405:c.*3508T>A)	BCAP29(uc003vej.2:c.*3750T>A,uc011kly.1:c.*3750T>A,uc011kma.1:c.*3508T>A)	ENSG00000075790(ENST00000379119:c.*3508T>A)	Na	Na	Na	Na	Na	Na	Het;T>A	2284;84|103	Hom;T>A	4725;0|167
N	N	-	7	107263333	107263333	A	C	snp	UTR3	*4283A>C	 	 	 	BCAP29	Bcap29	ENSG00000283852	B-cell receptor associated protein 29	chr7:107220422-107269615		Narcolepsy; Osteoarthritis, Knee; Coronary Artery Disease; Lipoproteins, LDL	 		GO:0006886;intracellular protein transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/BCAP29	https://www.uniprot.org/uniprot/Q9UHQ4			http://www.informatics.jax.org/searchtool/Search.do?query=BCAP29&submit=Quick%0D%22823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAP29	rs9691194	0.907149	0	0	1	0	0	UTR3	UTR3	UTR3	BCAP29(NM_018844:c.*4525A>C,NM_001008405:c.*4283A>C)	BCAP29(uc003vej.2:c.*4525A>C,uc011kly.1:c.*4525A>C,uc011kma.1:c.*4283A>C)	ENSG00000075790(ENST00000379119:c.*4283A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	1887;127|91	Hom;A>C	6891;0|242
N	N	-	7	107299527	107299527	G	A	snp	ncRNA_exonic	 	 	 	 	SLC26A4-AS1																		rs2701684	0.487021	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SLC26A4-AS1	SLC26A4-AS1	ENSG00000233705	Na	Na	Na	Na	Na	Na	Het;G>A	1293;67|63	Hom;G>A	3226;0|120
N	N	-	7	107299584	107299584	A	G	snp	ncRNA_exonic	 	 	 	 	SLC26A4-AS1																		rs2701685	0.672724	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SLC26A4-AS1	SLC26A4-AS1	ENSG00000233705	Na	Na	Na	Na	Na	Na	Het;A>G	1725;80|79	Hom;A>G	3974;0|145
N	N	-	7	107300340	107300340	A	C	snp	ncRNA_exonic	 	 	 	 	SLC26A4-AS1																		rs2712228	0.491813	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SLC26A4-AS1	SLC26A4-AS1	ENSG00000233705	Na	Na	Na	Na	Na	Na	Het;A>C	1433;71|65	Hom;A>C	4966;0|176
N	N	-	7	107303622	107303622	A	T	snp	intronic	 	 	 	 	SLC26A4	Slc26a4	ENSG00000091137	solute carrier family 26 member 4	chr7:107301080-107358254	Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]	HIV; enlarged vestibular aqueduct; Complete Hearing Loss|Deafness; Deafness; deafness, nonsyndromic; Goiter|Hearing Loss, Sensorineural|Vertigo; hearing impairment|Hearing Loss; Pendred syndrome; Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Hearing Loss|Syndrome; Complete Hearing Loss|Deafness|Hearing Loss, Sensorineural|Sensorineural Hearing Loss; hearing loss/deafness; Hearing Loss, Unilateral; Pendred's syndrome; Graves' disease; Hashimoto's thyroiditis; primary idiopathic myxedema; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Syndrome; Goiter|Hearing Loss, Sensorineural|Syndrome; hearing loss; Deafness|Hearing Loss|Hearing Loss, Sensorineural; thyroid function; thyroid cancer; Hearing Loss, Sensorineural; autoimmune thyroid diseases; Presbycusis; null; Inflammation; Hearing Loss	Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing.	Multifunctional anion exchangers	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006885;regulation of pH;IEA|GO:0007605;sensory perception of sound;TAS|GO:0008272;sulfate transport;TAS|GO:0015698;inorganic anion transport;TAS|GO:0015701;bicarbonate transport;IBA|GO:0015705;iodide transport;IEA|GO:0019532;oxalate transport;IEA|GO:0032880;regulation of protein localization;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005254;chloride channel activity;IBA|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0015106;bicarbonate transmembrane transporter activity;IBA|GO:0015108;chloride transmembrane transporter activity;TAS|GO:0015111;iodide transmembrane transporter activity;TAS|GO:0015116;sulfate transmembrane transporter activity;TAS|GO:0015301;anion:anion antiporter activity;IBA|GO:0019531;oxalate transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC26A4	https://www.uniprot.org/uniprot/O43511	https://hpo.jax.org/app/browse/search?q=SLC26A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605646	http://www.informatics.jax.org/searchtool/Search.do?query=SLC26A4&submit=Quick%0D%2138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC26A4	rs2248464	0.764577	0	0	1	0	0	intronic	intronic	intronic	SLC26A4	SLC26A4	ENSG00000091137	Na	Na	Na	Na	Na	Na	Het;A>T	41;4|2	Hom;A>T	808;0|18
N	N	-	7	107303628	107303628	C	T	snp	intronic	 	 	 	 	SLC26A4	Slc26a4	ENSG00000091137	solute carrier family 26 member 4	chr7:107301080-107358254	Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]	HIV; enlarged vestibular aqueduct; Complete Hearing Loss|Deafness; Deafness; deafness, nonsyndromic; Goiter|Hearing Loss, Sensorineural|Vertigo; hearing impairment|Hearing Loss; Pendred syndrome; Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Hearing Loss|Syndrome; Complete Hearing Loss|Deafness|Hearing Loss, Sensorineural|Sensorineural Hearing Loss; hearing loss/deafness; Hearing Loss, Unilateral; Pendred's syndrome; Graves' disease; Hashimoto's thyroiditis; primary idiopathic myxedema; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Syndrome; Goiter|Hearing Loss, Sensorineural|Syndrome; hearing loss; Deafness|Hearing Loss|Hearing Loss, Sensorineural; thyroid function; thyroid cancer; Hearing Loss, Sensorineural; autoimmune thyroid diseases; Presbycusis; null; Inflammation; Hearing Loss	Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing.	Multifunctional anion exchangers	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006885;regulation of pH;IEA|GO:0007605;sensory perception of sound;TAS|GO:0008272;sulfate transport;TAS|GO:0015698;inorganic anion transport;TAS|GO:0015701;bicarbonate transport;IBA|GO:0015705;iodide transport;IEA|GO:0019532;oxalate transport;IEA|GO:0032880;regulation of protein localization;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005254;chloride channel activity;IBA|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0015106;bicarbonate transmembrane transporter activity;IBA|GO:0015108;chloride transmembrane transporter activity;TAS|GO:0015111;iodide transmembrane transporter activity;TAS|GO:0015116;sulfate transmembrane transporter activity;TAS|GO:0015301;anion:anion antiporter activity;IBA|GO:0019531;oxalate transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC26A4	https://www.uniprot.org/uniprot/O43511	https://hpo.jax.org/app/browse/search?q=SLC26A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605646	http://www.informatics.jax.org/searchtool/Search.do?query=SLC26A4&submit=Quick%0D%2138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC26A4	rs2248465	0.658546	0	0	1	0	0	intronic	intronic	intronic	SLC26A4	SLC26A4	ENSG00000091137	Na	Na	Na	Na	Na	Na	Het;C>T	98;6|4	Hom;C>T	875;0|21
N	N	-	7	107384455	107384455	A	G	snp	ncRNA_exonic	 	 	 	 	AC002467.1																		rs756871	0.869209	0	0	1	0	0	UTR5	UTR5	ncRNA_exonic	CBLL1(NM_024814:c.-154A>G,NM_001284291:c.-154A>G)	CBLL1(uc011kme.2:c.-9966A>G,uc003veq.3:c.-154A>G,uc011kmf.2:c.-154A>G)	ENSG00000241764	Na	Na	Na	Na	Na	Na	Het;A>G	1006;40|42	Hom;A>G	2042;0|74
N	N	-	7	107849722	107849722	T	C	snp	intronic	 	 	 	 	NRCAM	Nrcam	ENSG00000091129	neuronal cell adhesion molecule	chr7:107788068-108097161	Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder	Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size.	Neurofascin interactions	GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRCAM	https://www.uniprot.org/uniprot/Q92823		https://www.ncbi.nlm.nih.gov/omim/?term=601581	http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM	rs11984362	0.197085	0	0	1	0	0	intronic	intronic	intronic	NRCAM	NRCAM	ENSG00000091129	Na	Na	Na	Na	Na	Na	Het;T>C	49;1|3	Hom;T>C	101;0|4
N	N	-	7	108363887	108363887	A	G	snp	intergenic	 	 	 	 	AC002487.1																		rs12538120	0.444089	0	0	1	0	0	intergenic	intergenic	intergenic	DNAJB9(dist=148593),C7orf66(dist=160145)	DNAJB9(dist=148593),C7orf66(dist=160151)	ENSG00000270425(dist=1842),ENSG00000205174(dist=160145)	Na	Na	Na	Na	Na	Na	Het;A>G	121;14|8	Hom;A>G	548;0|20
N	N	-	7	110100334	110100334	T	C	snp	ncRNA_intronic	 	 	 	 	AC092167.1																		rs437486	0.609225	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	EIF3IP1(dist=500064),IMMP2L(dist=202772)	EIF3IP1(dist=500064),IMMP2L(dist=202772)	ENSG00000226965	Na	Na	Na	Na	Na	Na	Het;T>C	796;33|38	Hom;T>C	2196;0|82
N	N	-	7	11075263	11075263	A	G	snp	intronic	 	 	 	 	PHF14	Phf14	ENSG00000106443	PHD finger protein 14	chr7:11013499-11209250			Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0048286;lung alveolus development;IEA|GO:0072201;negative regulation of mesenchymal cell proliferation;IEA|GO:2000584;negative regulation of platelet-derived growth factor receptor-alpha signaling pathway;IEA|GO:2000791;negative regulation of mesenchymal cell proliferation involved in lung development;IEA	GO:0005634;nucleus;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF14	https://www.uniprot.org/uniprot/O94880			http://www.informatics.jax.org/searchtool/Search.do?query=PHF14&submit=Quick%0D%3501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF14	rs2353340	0.457668	0.3337	0.4212	1	0	0	intronic	intronic	intronic	PHF14	PHF14	ENSG00000106443	Na	Na	Na	Na	Na	Na	Het;A>G	400;35|19	Hom;A>G	2105;0|72
N	N	-	7	11101306	11101306	G	C	snp	intronic	 	 	 	 	PHF14	Phf14	ENSG00000106443	PHD finger protein 14	chr7:11013499-11209250			Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0048286;lung alveolus development;IEA|GO:0072201;negative regulation of mesenchymal cell proliferation;IEA|GO:2000584;negative regulation of platelet-derived growth factor receptor-alpha signaling pathway;IEA|GO:2000791;negative regulation of mesenchymal cell proliferation involved in lung development;IEA	GO:0005634;nucleus;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF14	https://www.uniprot.org/uniprot/O94880			http://www.informatics.jax.org/searchtool/Search.do?query=PHF14&submit=Quick%0D%3501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF14	rs2301959	0.468051	0	0	1	0	0	intronic	intronic	intronic	PHF14	PHF14	ENSG00000106443	Na	Na	Na	Na	Na	Na	Het;G>C	343;4|12	Hom;G>C	540;0|15
N	N	-	7	11144078	11144078	A	G	snp	UTR3	*1953A>G	 	 	 	PHF14	Phf14	ENSG00000106443	PHD finger protein 14	chr7:11013499-11209250			Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0048286;lung alveolus development;IEA|GO:0072201;negative regulation of mesenchymal cell proliferation;IEA|GO:2000584;negative regulation of platelet-derived growth factor receptor-alpha signaling pathway;IEA|GO:2000791;negative regulation of mesenchymal cell proliferation involved in lung development;IEA	GO:0005634;nucleus;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF14	https://www.uniprot.org/uniprot/O94880			http://www.informatics.jax.org/searchtool/Search.do?query=PHF14&submit=Quick%0D%3501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF14	rs2190293	0.44369	0	0	1	0	0	UTR3	UTR3	intronic	PHF14(NM_014660:c.*1953A>G)	PHF14(uc003sry.2:c.*1953A>G,uc011jxi.2:c.*1953A>G)	ENSG00000106443	Na	Na	Na	Na	Na	Na	Het;A>G	1070;66|45	Hom;A>G	3221;0|113
N	N	-	7	11145295	11145295	T	C	snp	UTR3	*3170T>C	 	 	 	PHF14	Phf14	ENSG00000106443	PHD finger protein 14	chr7:11013499-11209250			Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0048286;lung alveolus development;IEA|GO:0072201;negative regulation of mesenchymal cell proliferation;IEA|GO:2000584;negative regulation of platelet-derived growth factor receptor-alpha signaling pathway;IEA|GO:2000791;negative regulation of mesenchymal cell proliferation involved in lung development;IEA	GO:0005634;nucleus;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF14	https://www.uniprot.org/uniprot/O94880			http://www.informatics.jax.org/searchtool/Search.do?query=PHF14&submit=Quick%0D%3501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF14	rs13238887	0.554113	0	0	1	0	0	UTR3	UTR3	intronic	PHF14(NM_014660:c.*3170T>C)	PHF14(uc003sry.2:c.*3170T>C,uc011jxi.2:c.*3170T>C)	ENSG00000106443	Na	Na	Na	Na	Na	Na	Het;T>C	1503;68|69	Hom;T>C	4046;0|139
N	N	-	7	11146283	11146283	G	A	snp	UTR3	*4158G>A	 	 	 	PHF14	Phf14	ENSG00000106443	PHD finger protein 14	chr7:11013499-11209250			Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0048286;lung alveolus development;IEA|GO:0072201;negative regulation of mesenchymal cell proliferation;IEA|GO:2000584;negative regulation of platelet-derived growth factor receptor-alpha signaling pathway;IEA|GO:2000791;negative regulation of mesenchymal cell proliferation involved in lung development;IEA	GO:0005634;nucleus;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF14	https://www.uniprot.org/uniprot/O94880			http://www.informatics.jax.org/searchtool/Search.do?query=PHF14&submit=Quick%0D%3501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF14	rs6460785	0.66234	0	0	1	0	0	UTR3	UTR3	intronic	PHF14(NM_014660:c.*4158G>A)	PHF14(uc003sry.2:c.*4158G>A,uc011jxi.2:c.*4158G>A)	ENSG00000106443	Na	Na	Na	Na	Na	Na	Het;G>A	1727;121|87	Hom;G>A	5360;0|199
N	N	-	7	111585949	111585949	T	C	snp	intronic	 	 	 	 	DOCK4	Dock4	ENSG00000128512	dedicator of cytokinesis 4	chr7:111366166-111846466	This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]	Autism; Triglycerides; Respiratory Function Tests; Respiration Disorders; autism; Electrocardiography; Heart Rate; Cholesterol; Tobacco Use Disorder; Blood Pressure; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms	Homozygous disruption of this gene leads to complete embryonic lethality. Heterozygotes display altered blood vessel lumen formation.	Factors involved in megakaryocyte development and platelet production	GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060326;cell chemotaxis;IMP|GO:1904694;negative regulation of vascular smooth muscle contraction;IMP|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IMP	GO:0005622;intracellular;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0032420;stereocilium;ISS|GO:0032421;stereocilium bundle;ISS|GO:0042995;cell projection;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030165;PDZ domain binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0048365;Rac GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK4	https://www.uniprot.org/uniprot/Q8N1I0		https://www.ncbi.nlm.nih.gov/omim/?term=607679	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK4&submit=Quick%0D%6141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK4	rs17159030	0.170527	0	0	1	0	0	intronic	intronic	intronic	DOCK4	DOCK4	ENSG00000128512	Na	Na	Na	Na	Na	Na	Het;T>C	81;3|3	Hom;T>C	140;0|4
N	N	-	7	11208989	11208989	C	A	snp	intronic	 	 	 	 	PHF14	Phf14	ENSG00000106443	PHD finger protein 14	chr7:11013499-11209250			Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0048286;lung alveolus development;IEA|GO:0072201;negative regulation of mesenchymal cell proliferation;IEA|GO:2000584;negative regulation of platelet-derived growth factor receptor-alpha signaling pathway;IEA|GO:2000791;negative regulation of mesenchymal cell proliferation involved in lung development;IEA	GO:0005634;nucleus;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHF14	https://www.uniprot.org/uniprot/O94880			http://www.informatics.jax.org/searchtool/Search.do?query=PHF14&submit=Quick%0D%3501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF14	rs28394821	0.40595	0	0	1	0	0	intergenic	intronic	intronic	NONE(dist=NONE),NONE(dist=NONE)	PHF14	ENSG00000106443	Na	Na	Na	Na	Na	Na	Het;C>A	31;3|2	Hom;C>A	92;0|5
N	N	-	7	112102355	112102355	T	G	snp	synonymous SNV	T678G	S226S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	IFRD1	Ifrd1	ENSG00000006652	interferon related developmental regulator 1	chr7:112063023-112121072	This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	Cystic Fibrosis|Disease Models, Animal|Inflammation; Heart Failure; Mortality	Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice.		GO:0007275;multicellular organism development;IEA|GO:0007518;myoblast fate determination;TAS|GO:0014706;striated muscle tissue development;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0042692;muscle cell differentiation;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0048671;negative regulation of collateral sprouting;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFRD1	https://www.uniprot.org/uniprot/O00458	https://hpo.jax.org/app/browse/search?q=IFRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603502	http://www.informatics.jax.org/searchtool/Search.do?query=IFRD1&submit=Quick%0D%413ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFRD1	rs2253962	0.236821	0.2703	0.2378	1	0	0	exonic	exonic	exonic	IFRD1	IFRD1	ENSG00000006652	synonymous SNV	synonymous SNV	unknown	IFRD1:NM_001197079:exon8:c.T678G:p.S226S,IFRD1:NM_001007245:exon9:c.T828G:p.S276S,IFRD1:NM_001550:exon8:c.T828G:p.S276S,IFRD1:NM_001197080:exon8:c.T678G:p.S226S,	IFRD1:uc011kmp.2:exon8:c.T678G:p.S226S,IFRD1:uc003vgj.3:exon8:c.T828G:p.S276S,IFRD1:uc003vgh.3:exon9:c.T828G:p.S276S,IFRD1:uc011kmn.2:exon8:c.T678G:p.S226S,	UNKNOWN	Het;T>G	1367;101|69	Hom;T>G	4195;0|152
N	N	-	7	112112279	112112279	G	A	snp	synonymous SNV	G897A	R299R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	IFRD1	Ifrd1	ENSG00000006652	interferon related developmental regulator 1	chr7:112063023-112121072	This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	Cystic Fibrosis|Disease Models, Animal|Inflammation; Heart Failure; Mortality	Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice.		GO:0007275;multicellular organism development;IEA|GO:0007518;myoblast fate determination;TAS|GO:0014706;striated muscle tissue development;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0042692;muscle cell differentiation;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0048671;negative regulation of collateral sprouting;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFRD1	https://www.uniprot.org/uniprot/O00458	https://hpo.jax.org/app/browse/search?q=IFRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603502	http://www.informatics.jax.org/searchtool/Search.do?query=IFRD1&submit=Quick%0D%413ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFRD1	rs2074796	0.246206	0.2786	0.2398	1	0	0	exonic	exonic	exonic	IFRD1	IFRD1	ENSG00000006652	synonymous SNV	synonymous SNV	unknown	IFRD1:NM_001197079:exon10:c.G897A:p.R299R,IFRD1:NM_001007245:exon11:c.G1047A:p.R349R,IFRD1:NM_001550:exon10:c.G1047A:p.R349R,IFRD1:NM_001197080:exon10:c.G897A:p.R299R,	IFRD1:uc011kmp.2:exon10:c.G897A:p.R299R,IFRD1:uc003vgj.3:exon10:c.G1047A:p.R349R,IFRD1:uc003vgk.3:exon2:c.G198A:p.R66R,IFRD1:uc003vgh.3:exon11:c.G1047A:p.R349R,IFRD1:uc011kmn.2:exon10:c.G897A:p.R299R,	UNKNOWN	Het;G>A	1071;48|47	Hom;G>A	2554;1|90
N	N	-	7	112116198	112116198	G	A	snp	UTR3	*624G>A	 	 	 	IFRD1	Ifrd1	ENSG00000006652	interferon related developmental regulator 1	chr7:112063023-112121072	This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	Cystic Fibrosis|Disease Models, Animal|Inflammation; Heart Failure; Mortality	Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice.		GO:0007275;multicellular organism development;IEA|GO:0007518;myoblast fate determination;TAS|GO:0014706;striated muscle tissue development;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0042692;muscle cell differentiation;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0048671;negative regulation of collateral sprouting;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFRD1	https://www.uniprot.org/uniprot/O00458	https://hpo.jax.org/app/browse/search?q=IFRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603502	http://www.informatics.jax.org/searchtool/Search.do?query=IFRD1&submit=Quick%0D%413ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFRD1	rs7467	0.285144	0	0	1	0	0	UTR3	UTR3	UTR3	IFRD1(NM_001197080:c.*624G>A,NM_001007245:c.*624G>A,NM_001550:c.*624G>A,NM_001197079:c.*624G>A)	IFRD1(uc003vgh.3:c.*624G>A,uc011kmn.2:c.*624G>A,uc003vgj.3:c.*624G>A,uc011kmp.2:c.*624G>A,uc003vgk.3:c.*624G>A)	ENSG00000006652(ENST00000403825:c.*624G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1624;89|74	Hom;G>A	4297;0|150
N	N	-	7	112116241	112116241	A	G	snp	UTR3	*667A>G	 	 	 	IFRD1	Ifrd1	ENSG00000006652	interferon related developmental regulator 1	chr7:112063023-112121072	This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	Cystic Fibrosis|Disease Models, Animal|Inflammation; Heart Failure; Mortality	Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice.		GO:0007275;multicellular organism development;IEA|GO:0007518;myoblast fate determination;TAS|GO:0014706;striated muscle tissue development;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0042692;muscle cell differentiation;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0048671;negative regulation of collateral sprouting;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFRD1	https://www.uniprot.org/uniprot/O00458	https://hpo.jax.org/app/browse/search?q=IFRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603502	http://www.informatics.jax.org/searchtool/Search.do?query=IFRD1&submit=Quick%0D%413ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFRD1	rs3183621	0.196486	0	0	1	0	0	UTR3	UTR3	UTR3	IFRD1(NM_001197080:c.*667A>G,NM_001007245:c.*667A>G,NM_001550:c.*667A>G,NM_001197079:c.*667A>G)	IFRD1(uc003vgh.3:c.*667A>G,uc011kmn.2:c.*667A>G,uc003vgj.3:c.*667A>G,uc011kmp.2:c.*667A>G,uc003vgk.3:c.*667A>G)	ENSG00000006652(ENST00000403825:c.*667A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1584;76|74	Hom;A>G	3851;0|134
N	N	-	7	112116659	112116659	T	C	snp	UTR3	*1085T>C	 	 	 	IFRD1	Ifrd1	ENSG00000006652	interferon related developmental regulator 1	chr7:112063023-112121072	This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	Cystic Fibrosis|Disease Models, Animal|Inflammation; Heart Failure; Mortality	Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice.		GO:0007275;multicellular organism development;IEA|GO:0007518;myoblast fate determination;TAS|GO:0014706;striated muscle tissue development;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0042692;muscle cell differentiation;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0048671;negative regulation of collateral sprouting;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IFRD1	https://www.uniprot.org/uniprot/O00458	https://hpo.jax.org/app/browse/search?q=IFRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603502	http://www.informatics.jax.org/searchtool/Search.do?query=IFRD1&submit=Quick%0D%413ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFRD1	rs2190588	0.704872	0	0	1	0	0	UTR3	UTR3	intronic	IFRD1(NM_001197080:c.*1085T>C,NM_001007245:c.*1085T>C,NM_001550:c.*1085T>C,NM_001197079:c.*1085T>C)	IFRD1(uc003vgh.3:c.*1085T>C,uc011kmn.2:c.*1085T>C,uc003vgj.3:c.*1085T>C,uc011kmp.2:c.*1085T>C,uc003vgk.3:c.*1085T>C)	ENSG00000006652	Na	Na	Na	Na	Na	Na	Het;T>C	197;13|7	Hom;T>C	252;0|8
N	N	-	7	112262403	112262403	A	G	snp	upstream	 	 	 	 	LOC101928012																		rs1234381	0.716454	0	0	1	0	0	upstream	intergenic	upstream	LOC101928012	LSMEM1(dist=131460),TMEM168(dist=143384)	ENSG00000223646	Na	Na	Na	Na	Na	Na	Het;A>G	75;7|5	Hom;A>G	769;0|22
N	N	-	7	112908715	112908715	T	C	snp	intergenic	 	 	 	 	AC073346.1																		rs6980273	0.559904	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00998(dist=150078),PPP1R3A(dist=608167)	LOC401397(dist=150078),PPP1R3A(dist=608167)	ENSG00000225457(dist=122330),ENSG00000270997(dist=147029)	Na	Na	Na	Na	Na	Na	Het;T>C	54;6|3	Hom;T>C	201;0|7
N	N	-	7	11521542	11521542	T	C	snp	synonymous SNV	A1890G	P630P	hydrophobic,neutral	hydrophobic,neutral	THSD7A	Thsd7a	ENSG00000005108	thrombospondin type 1 domain containing 7A	chr7:11409984-11871824	The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]	Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight	 	O-glycosylation of TSR domain-containing proteins	GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/THSD7A	https://www.uniprot.org/uniprot/Q9UPZ6		https://www.ncbi.nlm.nih.gov/omim/?term=612249	http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A	rs3735502	0.184904	0.2132	0.2330	1	0	0	exonic	exonic	exonic	THSD7A	THSD7A	ENSG00000005108	synonymous SNV	synonymous SNV	unknown	THSD7A:NM_015204:exon7:c.A1890G:p.P630P,	THSD7A:uc021zzn.1:exon7:c.A1890G:p.P630P,THSD7A:uc021zzo.1:exon7:c.A1890G:p.P630P,	UNKNOWN	Het;T>C	852;61|40	Hom;T>C	1235;0|45
N	N	-	7	11581134	11581134	T	C	snp	synonymous SNV	A1734G	A578A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	THSD7A	Thsd7a	ENSG00000005108	thrombospondin type 1 domain containing 7A	chr7:11409984-11871824	The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]	Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight	 	O-glycosylation of TSR domain-containing proteins	GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/THSD7A	https://www.uniprot.org/uniprot/Q9UPZ6		https://www.ncbi.nlm.nih.gov/omim/?term=612249	http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A	rs2074603	0.471645	0.4323	0.4275	1	0	0	exonic	exonic	exonic	THSD7A	THSD7A	ENSG00000005108	synonymous SNV	synonymous SNV	unknown	THSD7A:NM_015204:exon6:c.A1734G:p.A578A,	THSD7A:uc021zzn.1:exon6:c.A1734G:p.A578A,THSD7A:uc021zzo.1:exon6:c.A1734G:p.A578A,	UNKNOWN	Het;T>C	730;41|35	Hom;T>C	4184;0|97
N	N	-	7	11582890	11582890	G	C	snp	intronic	 	 	 	 	THSD7A	Thsd7a	ENSG00000005108	thrombospondin type 1 domain containing 7A	chr7:11409984-11871824	The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]	Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight	 	O-glycosylation of TSR domain-containing proteins	GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/THSD7A	https://www.uniprot.org/uniprot/Q9UPZ6		https://www.ncbi.nlm.nih.gov/omim/?term=612249	http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A	rs12699207	0.452276	0	0	1	0	0	intronic	intronic	intronic	THSD7A	THSD7A	ENSG00000005108	Na	Na	Na	Na	Na	Na	Het;G>C	45;2|2	Hom;G>C	143;0|4
N	N	-	7	116435768	116435768	C	T	snp	synonymous SNV	C3858T	D1286D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MET	Met	ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase	chr7:116312444-116438440	This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]	Multiple Sclerosis; Myopia; Schizophrenia; autism; chronic obstructive pulmonary disease; Hip; Refractive Errors; cutaneous squamous cell carcinoma; Pancreatic Neoplasms; Nasal Polyps|Rhinitis|Sinusitis; multiple sclerosis (severity); lung cancer; head and neck cancer; lung cancer ; bladder cancer; refractive error and ocular biometrics; diabetes, type 2; Autism; Hyperparathyroidism, Secondary; Cell Transformation, Neoplastic|Neoplasms	Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects.	MET activates STAT3	GO:0000165;MAPK cascade;TAS|GO:0001886;endothelial cell morphogenesis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0010507;negative regulation of autophagy;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IDA|GO:0035635;entry of bacterium into host cell;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048754;branching morphogenesis of an epithelial tube;IMP|GO:0050918;positive chemotaxis;IDA|GO:0051497;negative regulation of stress fiber assembly;IDA|GO:0061436;establishment of skin barrier;IMP|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:1901299;negative regulation of hydrogen peroxide-mediated programmed cell death;IMP|GO:1905098;negative regulation of guanyl-nucleotide exchange factor activity;IDA|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005008;hepatocyte growth factor-activated receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017154;semaphorin receptor activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MET	https://www.uniprot.org/uniprot/P08581	https://hpo.jax.org/app/browse/search?q=MET&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164860	http://www.informatics.jax.org/searchtool/Search.do?query=MET&submit=Quick%0D%3425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MET	rs41736	0.352236	0.3235	0.4228	1	0	0	exonic	exonic	exonic	MET	MET	ENSG00000105976	synonymous SNV	synonymous SNV	unknown	MET:NM_001127500:exon20:c.C3912T:p.D1304D,MET:NM_000245:exon20:c.C3858T:p.D1286D,	MET:uc003vij.3:exon20:c.C3858T:p.D1286D,MET:uc010lkh.3:exon20:c.C3912T:p.D1304D,MET:uc011knj.2:exon20:c.C2568T:p.D856D,	UNKNOWN	Het;C>T	1192;60|57	Hom;C>T	1994;0|75
N	N	-	7	116436022	116436022	G	A	snp	synonymous SNV	G4017A	A1339A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MET	Met	ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase	chr7:116312444-116438440	This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]	Multiple Sclerosis; Myopia; Schizophrenia; autism; chronic obstructive pulmonary disease; Hip; Refractive Errors; cutaneous squamous cell carcinoma; Pancreatic Neoplasms; Nasal Polyps|Rhinitis|Sinusitis; multiple sclerosis (severity); lung cancer; head and neck cancer; lung cancer ; bladder cancer; refractive error and ocular biometrics; diabetes, type 2; Autism; Hyperparathyroidism, Secondary; Cell Transformation, Neoplastic|Neoplasms	Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects.	MET activates STAT3	GO:0000165;MAPK cascade;TAS|GO:0001886;endothelial cell morphogenesis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0010507;negative regulation of autophagy;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IDA|GO:0035635;entry of bacterium into host cell;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048754;branching morphogenesis of an epithelial tube;IMP|GO:0050918;positive chemotaxis;IDA|GO:0051497;negative regulation of stress fiber assembly;IDA|GO:0061436;establishment of skin barrier;IMP|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:1901299;negative regulation of hydrogen peroxide-mediated programmed cell death;IMP|GO:1905098;negative regulation of guanyl-nucleotide exchange factor activity;IDA|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005008;hepatocyte growth factor-activated receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017154;semaphorin receptor activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MET	https://www.uniprot.org/uniprot/P08581	https://hpo.jax.org/app/browse/search?q=MET&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164860	http://www.informatics.jax.org/searchtool/Search.do?query=MET&submit=Quick%0D%3425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MET	rs2023748	0.353834	0.3225	0.4245	1	0	0	exonic	exonic	exonic	MET	MET	ENSG00000105976	synonymous SNV	synonymous SNV	unknown	MET:NM_001127500:exon21:c.G4071A:p.A1357A,MET:NM_000245:exon21:c.G4017A:p.A1339A,	MET:uc003vij.3:exon21:c.G4017A:p.A1339A,MET:uc010lkh.3:exon21:c.G4071A:p.A1357A,MET:uc011knj.2:exon21:c.G2727A:p.A909A,	UNKNOWN	Het;G>A	2118;99|98	Hom;G>A	4477;2|170
N	N	-	7	116436097	116436097	G	A	snp	synonymous SNV	G4092A	P1364P	hydrophobic,neutral	hydrophobic,neutral	MET	Met	ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase	chr7:116312444-116438440	This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]	Multiple Sclerosis; Myopia; Schizophrenia; autism; chronic obstructive pulmonary disease; Hip; Refractive Errors; cutaneous squamous cell carcinoma; Pancreatic Neoplasms; Nasal Polyps|Rhinitis|Sinusitis; multiple sclerosis (severity); lung cancer; head and neck cancer; lung cancer ; bladder cancer; refractive error and ocular biometrics; diabetes, type 2; Autism; Hyperparathyroidism, Secondary; Cell Transformation, Neoplastic|Neoplasms	Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects.	MET activates STAT3	GO:0000165;MAPK cascade;TAS|GO:0001886;endothelial cell morphogenesis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0010507;negative regulation of autophagy;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IDA|GO:0035635;entry of bacterium into host cell;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048754;branching morphogenesis of an epithelial tube;IMP|GO:0050918;positive chemotaxis;IDA|GO:0051497;negative regulation of stress fiber assembly;IDA|GO:0061436;establishment of skin barrier;IMP|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:1901299;negative regulation of hydrogen peroxide-mediated programmed cell death;IMP|GO:1905098;negative regulation of guanyl-nucleotide exchange factor activity;IDA|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005008;hepatocyte growth factor-activated receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017154;semaphorin receptor activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MET	https://www.uniprot.org/uniprot/P08581	https://hpo.jax.org/app/browse/search?q=MET&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164860	http://www.informatics.jax.org/searchtool/Search.do?query=MET&submit=Quick%0D%3425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MET	rs41737	0.354633	0.3210	0.4248	1	0	0	exonic	exonic	exonic	MET	MET	ENSG00000105976	synonymous SNV	synonymous SNV	unknown	MET:NM_001127500:exon21:c.G4146A:p.P1382P,MET:NM_000245:exon21:c.G4092A:p.P1364P,	MET:uc003vij.3:exon21:c.G4092A:p.P1364P,MET:uc010lkh.3:exon21:c.G4146A:p.P1382P,MET:uc011knj.2:exon21:c.G2802A:p.P934P,	UNKNOWN	Het;G>A	1936;79|90	Hom;G>A	4714;1|175
N	N	-	7	116437206	116437206	A	G	snp	UTR3	*1028A>G	 	 	 	MET	Met	ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase	chr7:116312444-116438440	This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]	Multiple Sclerosis; Myopia; Schizophrenia; autism; chronic obstructive pulmonary disease; Hip; Refractive Errors; cutaneous squamous cell carcinoma; Pancreatic Neoplasms; Nasal Polyps|Rhinitis|Sinusitis; multiple sclerosis (severity); lung cancer; head and neck cancer; lung cancer ; bladder cancer; refractive error and ocular biometrics; diabetes, type 2; Autism; Hyperparathyroidism, Secondary; Cell Transformation, Neoplastic|Neoplasms	Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects.	MET activates STAT3	GO:0000165;MAPK cascade;TAS|GO:0001886;endothelial cell morphogenesis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0010507;negative regulation of autophagy;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IDA|GO:0035635;entry of bacterium into host cell;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048754;branching morphogenesis of an epithelial tube;IMP|GO:0050918;positive chemotaxis;IDA|GO:0051497;negative regulation of stress fiber assembly;IDA|GO:0061436;establishment of skin barrier;IMP|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:1901299;negative regulation of hydrogen peroxide-mediated programmed cell death;IMP|GO:1905098;negative regulation of guanyl-nucleotide exchange factor activity;IDA|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005008;hepatocyte growth factor-activated receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017154;semaphorin receptor activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MET	https://www.uniprot.org/uniprot/P08581	https://hpo.jax.org/app/browse/search?q=MET&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164860	http://www.informatics.jax.org/searchtool/Search.do?query=MET&submit=Quick%0D%3425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MET	rs41738	0.354633	0	0	1	0	0	UTR3	UTR3	UTR3	MET(NM_000245:c.*1028A>G,NM_001127500:c.*1028A>G)	MET(uc003vij.3:c.*1028A>G,uc010lkh.3:c.*1028A>G,uc011knj.2:c.*1028A>G)	ENSG00000105976(ENST00000397752:c.*1028A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1134;18|50	Hom;A>G	2046;0|80
N	N	-	7	116437504	116437504	A	G	snp	UTR3	*1326A>G	 	 	 	MET	Met	ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase	chr7:116312444-116438440	This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]	Multiple Sclerosis; Myopia; Schizophrenia; autism; chronic obstructive pulmonary disease; Hip; Refractive Errors; cutaneous squamous cell carcinoma; Pancreatic Neoplasms; Nasal Polyps|Rhinitis|Sinusitis; multiple sclerosis (severity); lung cancer; head and neck cancer; lung cancer ; bladder cancer; refractive error and ocular biometrics; diabetes, type 2; Autism; Hyperparathyroidism, Secondary; Cell Transformation, Neoplastic|Neoplasms	Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects.	MET activates STAT3	GO:0000165;MAPK cascade;TAS|GO:0001886;endothelial cell morphogenesis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0010507;negative regulation of autophagy;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IDA|GO:0035635;entry of bacterium into host cell;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048754;branching morphogenesis of an epithelial tube;IMP|GO:0050918;positive chemotaxis;IDA|GO:0051497;negative regulation of stress fiber assembly;IDA|GO:0061436;establishment of skin barrier;IMP|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:1901299;negative regulation of hydrogen peroxide-mediated programmed cell death;IMP|GO:1905098;negative regulation of guanyl-nucleotide exchange factor activity;IDA|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005008;hepatocyte growth factor-activated receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017154;semaphorin receptor activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MET	https://www.uniprot.org/uniprot/P08581	https://hpo.jax.org/app/browse/search?q=MET&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164860	http://www.informatics.jax.org/searchtool/Search.do?query=MET&submit=Quick%0D%3425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MET	rs41739	0.353834	0	0	1	0	0	UTR3	UTR3	UTR3	MET(NM_000245:c.*1326A>G,NM_001127500:c.*1326A>G)	MET(uc003vij.3:c.*1326A>G,uc010lkh.3:c.*1326A>G,uc011knj.2:c.*1326A>G)	ENSG00000105976(ENST00000397752:c.*1326A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	450;18|19	Hom;A>G	1007;0|34
N	N	-	7	116438418	116438418	G	A	snp	UTR3	*2240G>A	 	 	 	MET	Met	ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase	chr7:116312444-116438440	This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]	Multiple Sclerosis; Myopia; Schizophrenia; autism; chronic obstructive pulmonary disease; Hip; Refractive Errors; cutaneous squamous cell carcinoma; Pancreatic Neoplasms; Nasal Polyps|Rhinitis|Sinusitis; multiple sclerosis (severity); lung cancer; head and neck cancer; lung cancer ; bladder cancer; refractive error and ocular biometrics; diabetes, type 2; Autism; Hyperparathyroidism, Secondary; Cell Transformation, Neoplastic|Neoplasms	Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects.	MET activates STAT3	GO:0000165;MAPK cascade;TAS|GO:0001886;endothelial cell morphogenesis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0010507;negative regulation of autophagy;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IDA|GO:0035635;entry of bacterium into host cell;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048754;branching morphogenesis of an epithelial tube;IMP|GO:0050918;positive chemotaxis;IDA|GO:0051497;negative regulation of stress fiber assembly;IDA|GO:0061436;establishment of skin barrier;IMP|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:1901299;negative regulation of hydrogen peroxide-mediated programmed cell death;IMP|GO:1905098;negative regulation of guanyl-nucleotide exchange factor activity;IDA|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005008;hepatocyte growth factor-activated receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017154;semaphorin receptor activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MET	https://www.uniprot.org/uniprot/P08581	https://hpo.jax.org/app/browse/search?q=MET&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164860	http://www.informatics.jax.org/searchtool/Search.do?query=MET&submit=Quick%0D%3425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MET	rs6566	0.355431	0	0	1	0	0	UTR3	UTR3	UTR3	MET(NM_000245:c.*2240G>A,NM_001127500:c.*2240G>A)	MET(uc003vij.3:c.*2240G>A,uc010lkh.3:c.*2240G>A,uc011knj.2:c.*2240G>A)	ENSG00000105976(ENST00000397752:c.*2240G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	489;29|26	Hom;G>A	1401;0|54
N	N	-	7	118280024	118280024	T	G	snp	intergenic	 	 	 	 	ENSG00000222226																		rs79708918	0	0	0	1	0	0	intergenic	intergenic	intergenic	ANKRD7(dist=397240),KCND2(dist=1633698)	ANKRD7(dist=397240),KCND2(dist=1633698)	ENSG00000222226(dist=177376),ENSG00000229982(dist=240133)	Na	Na	Na	Na	Na	Na	Het;T>G	348;26|23	Hom;T>G	1195;1|31
N	N	-	7	120969969	120969969	G	GCT	indel	intronic	 	 	 	 	WNT16	Wnt16	ENSG00000002745	Wnt family member 16	chr7:120965421-120981158	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a knock-out allele exhibit decreased bone mineral density, cortical bone thickness and bone strength.	Class B/2 (Secretin family receptors)	GO:0003408;optic cup formation involved in camera-type eye development;ISS|GO:0007275;multicellular organism development;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0030182;neuron differentiation;IBA|GO:0030216;keratinocyte differentiation;IMP|GO:0043616;keratinocyte proliferation;IMP|GO:0045165;cell fate commitment;IBA|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046849;bone remodeling;IEA|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060548;negative regulation of cell death;IMP|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA	GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WNT16	https://www.uniprot.org/uniprot/Q9UBV4		https://www.ncbi.nlm.nih.gov/omim/?term=606267	http://www.informatics.jax.org/searchtool/Search.do?query=WNT16&submit=Quick%0D%293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT16	rs142005327	0.257388	0	0	1	0	0	intronic	intronic	intronic	WNT16	WNT16	ENSG00000002745	Na	Na	Na	Na	Na	Na	Het;+CT	120;12|5	Hom;+CT	205;0|6
N	N	-	7	121423028	121423028	T	G	snp	intergenic	 	 	 	 	RN7SKP277																		rs11768862	0.344649	0	0	1	0	0	intergenic	intergenic	intergenic	FAM3C(dist=386606),PTPRZ1(dist=90131)	7SK(dist=46249),PTPRZ1(dist=90131)	ENSG00000252704(dist=46249),ENSG00000233272(dist=59394)	Na	Na	Na	Na	Na	Na	Het;T>G	161;8|9	Hom;T>G	204;0|8
N	N	-	7	121802068	121802068	T	C	snp	ncRNA_exonic	 	 	 	 	AC006020.1																		rs17144133	0.30651	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	AASS(dist=17724),FEZF1(dist=139295)	AASS(dist=17724),FEZF1(dist=139380)	ENSG00000226636	Na	Na	Na	Na	Na	Na	Het;T>C	93;1|5	Hom;T>C	161;0|7
N	N	-	7	122774729	122774729	C	A	snp	intronic	 	 	 	 	SLC13A1	Slc13a1	ENSG00000081800	solute carrier family 13 member 1	chr7:122753585-122840040	The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]	Blood Pressure Determination; Autism; Chronic renal failure|Kidney Failure, Chronic; Glucose; Myocardial Infarction; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Diabetes Mellitus, Type 2	Homozygous mutant mice exhibit hyposulfatemia, growth retardation, reduced female fertility, and spontaneous clonic seizures.	Sodium-coupled sulphate, di- and tri-carboxylate transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008272;sulfate transport;IEA|GO:0035725;sodium ion transmembrane transport;IBA|GO:0055085;transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015382;sodium:sulfate symporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC13A1	https://www.uniprot.org/uniprot/Q9BZW2		https://www.ncbi.nlm.nih.gov/omim/?term=606193	http://www.informatics.jax.org/searchtool/Search.do?query=SLC13A1&submit=Quick%0D%1779ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC13A1	rs2470984	0.357228	0	0	1	0	0	intronic	intronic	intronic	SLC13A1	SLC13A1	ENSG00000081800	Na	Na	Na	Na	Na	Na	Het;C>A	283;1|11	Hom;C>A	336;0|11
N	N	-	7	123092302	123092302	C	T	snp	UTR3	*495G>A	 	 	 	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs7789409	0.226038	0	0	1	0	0	UTR3	UTR3	downstream	IQUB(NM_001282855:c.*495G>A,NM_178827:c.*495G>A)	IQUB(uc011kny.2:c.*495G>A,uc003vkn.3:c.*495G>A,uc003vko.3:c.*495G>A)	ENSG00000164675	Na	Na	Na	Na	Na	Na	Het;C>T	983;93|54	Hom;C>T	3013;0|112
N	N	-	7	123097380	123097380	C	T	snp	ncRNA_intronic	 	 	 	 	AC073323.1																		rs12673749	0.225639	0	0	1	0	0	intronic	intronic	ncRNA_intronic	IQUB	IQUB	ENSG00000232524	Na	Na	Na	Na	Na	Na	Het;C>T	103;5|5	Hom;C>T	204;0|7
N	N	-	7	123097468	123097468	T	C	snp	synonymous SNV	A159G	A53A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs10234745	0.337061	0.3195	0.3064	1	0	0	exonic	exonic	exonic	IQUB	IQUB	ENSG00000164675	synonymous SNV	synonymous SNV	unknown	IQUB:NM_001282855:exon12:c.A2160G:p.A720A,IQUB:NM_178827:exon12:c.A2160G:p.A720A,	IQUB:uc011kny.2:exon2:c.A159G:p.A53A,IQUB:uc003vkn.3:exon12:c.A2160G:p.A720A,IQUB:uc003vko.3:exon12:c.A2160G:p.A720A,	UNKNOWN	Het;T>C	649;52|34	Hom;T>C	1968;0|68
N	N	-	7	123119990	123119990	T	C	snp	synonymous SNV	A1269G	Q423Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs10500091	0.22524	0.2130	0.2705	1	0	0	exonic	exonic	exonic	IQUB	IQUB	ENSG00000164675	synonymous SNV	synonymous SNV	unknown	IQUB:NM_001282855:exon8:c.A1269G:p.Q423Q,IQUB:NM_178827:exon8:c.A1269G:p.Q423Q,	IQUB:uc003vkp.1:exon8:c.A1269G:p.Q423Q,IQUB:uc003vkn.3:exon8:c.A1269G:p.Q423Q,IQUB:uc003vko.3:exon8:c.A1269G:p.Q423Q,	UNKNOWN	Het;T>C	613;46|29	Hom;T>C	2346;0|85
N	N	-	7	123120070	123120070	C	T	snp	intronic	 	 	 	 	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs12155170	0.334265	0.3139	0.3043	1	0	0	intronic	intronic	intronic	IQUB	IQUB	ENSG00000164675	Na	Na	Na	Na	Na	Na	Het;C>T	230;27|12	Hom;C>T	822;0|28
N	N	-	7	123150194	123150194	T	C	snp	intronic	 	 	 	 	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs1917708	0.275559	0	0	1	0	0	intronic	intronic	intronic	IQUB	IQUB	ENSG00000164675	Na	Na	Na	Na	Na	Na	Het;T>C	269;5|9	Hom;T>C	472;0|14
N	N	-	7	123152019	123152019	C	T	snp	nonsynonymous SNV	G376A	V126M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs10255061	0.267971	0.2572	0.2829	0.15	2	13	exonic	exonic	exonic	IQUB	IQUB	ENSG00000164675	nonsynonymous SNV	nonsynonymous SNV	unknown	IQUB:NM_001282855:exon2:c.G376A:p.V126M,IQUB:NM_178827:exon2:c.G376A:p.V126M,	IQUB:uc003vkq.2:exon2:c.G376A:p.V126M,IQUB:uc003vkp.1:exon2:c.G376A:p.V126M,IQUB:uc003vkn.3:exon2:c.G376A:p.V126M,IQUB:uc003vko.3:exon2:c.G376A:p.V126M,	UNKNOWN	Het;C>T	948;66|48	Hom;C>T	2489;0|87
N	N	-	7	123152035	123152035	T	C	snp	synonymous SNV	A360G	E120E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs10270705	0.324481	0.3481	0.3400	1	0	0	exonic	exonic	exonic	IQUB	IQUB	ENSG00000164675	synonymous SNV	synonymous SNV	unknown	IQUB:NM_001282855:exon2:c.A360G:p.E120E,IQUB:NM_178827:exon2:c.A360G:p.E120E,	IQUB:uc003vkq.2:exon2:c.A360G:p.E120E,IQUB:uc003vkp.1:exon2:c.A360G:p.E120E,IQUB:uc003vkn.3:exon2:c.A360G:p.E120E,IQUB:uc003vko.3:exon2:c.A360G:p.E120E,	UNKNOWN	Het;T>C	1271;75|61	Hom;T>C	3414;0|119
N	N	-	7	123174533	123174533	T	C	snp	intronic	 	 	 	 	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs12154584	0.36222	0	0	1	0	0	intronic	intronic	intronic	IQUB	IQUB	ENSG00000164675	Na	Na	Na	Na	Na	Na	Het;T>C	438;15|20	Hom;T>C	1648;0|59
N	N	-	7	123174777	123174777	T	C	snp	upstream	 	 	 	 	IQUB	Iqub	ENSG00000164675	IQ motif and ubiquitin domain containing	chr7:123092454-123175131		HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQUB				http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB	rs56096533	0.295327	0	0	1	0	0	upstream	upstream	upstream	IQUB	IQUB	ENSG00000164675	Na	Na	Na	Na	Na	Na	Het;T>C	38;9|3	Hom;T>C	335;0|10
N	N	-	7	123177696	123177696	G	A	snp	UTR3	*4477C>T	 	 	 	NDUFA5	Ndufa5	ENSG00000128609	NADH:ubiquinone oxidoreductase subunit A5	chr7:123177051-123198309	This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; drug-related genes ; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit embryonic lethality at E9.	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA5	https://www.uniprot.org/uniprot/Q16718		https://www.ncbi.nlm.nih.gov/omim/?term=601677	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA5&submit=Quick%0D%6163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA5	rs28755907	0.250399	0	0	1	0	0	UTR3	intergenic	UTR3	NDUFA5(NM_001291304:c.*4477C>T,NM_001282419:c.*4477C>T,NM_005000:c.*4477C>T,NM_001282422:c.*4477C>T,NM_001282421:c.*4477C>T,NM_001282420:c.*4477C>T)	IQUB(dist=2978),NDUFA5(dist=3387)	ENSG00000128609(ENST00000471770:c.*4477C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1134;69|53	Hom;G>A	3343;0|118
N	N	-	7	123177880	123177882	TAA	T	indel	UTR3	*4293_*4291delinsA	 	 	 	NDUFA5	Ndufa5	ENSG00000128609	NADH:ubiquinone oxidoreductase subunit A5	chr7:123177051-123198309	This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; drug-related genes ; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit embryonic lethality at E9.	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA5	https://www.uniprot.org/uniprot/Q16718		https://www.ncbi.nlm.nih.gov/omim/?term=601677	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA5&submit=Quick%0D%6163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA5	rs56372546	0.251797	0	0	1	0	0	UTR3	intergenic	UTR3	NDUFA5(NM_001291304:c.*4293_*4291delinsA,NM_001282419:c.*4293_*4291delinsA,NM_005000:c.*4293_*4291delinsA,NM_001282422:c.*4293_*4291delinsA,NM_001282421:c.*4293_*4291delinsA,NM_001282420:c.*4293_*4291delinsA)	IQUB(dist=3162),NDUFA5(dist=3201)	ENSG00000128609(ENST00000471770:c.*4293_*4291delinsA)	Na	Na	Na	Na	Na	Na	Het;-AA	753;26|28	Hom;-AA	1835;6|57
N	N	-	7	123179787	123179787	T	G	snp	UTR3	*2386A>C	 	 	 	NDUFA5	Ndufa5	ENSG00000128609	NADH:ubiquinone oxidoreductase subunit A5	chr7:123177051-123198309	This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; drug-related genes ; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit embryonic lethality at E9.	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA5	https://www.uniprot.org/uniprot/Q16718		https://www.ncbi.nlm.nih.gov/omim/?term=601677	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA5&submit=Quick%0D%6163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA5	rs4147635	0.294728	0	0	1	0	0	UTR3	intergenic	UTR3	NDUFA5(NM_001291304:c.*2386A>C,NM_001282419:c.*2386A>C,NM_005000:c.*2386A>C,NM_001282422:c.*2386A>C,NM_001282421:c.*2386A>C,NM_001282420:c.*2386A>C)	IQUB(dist=5069),NDUFA5(dist=1296)	ENSG00000128609(ENST00000471770:c.*2386A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	3180;119|138	Hom;T>G	6545;0|239
N	N	-	7	123181272	123181272	C	G	snp	UTR3	*901G>C	 	 	 	NDUFA5	Ndufa5	ENSG00000128609	NADH:ubiquinone oxidoreductase subunit A5	chr7:123177051-123198309	This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; drug-related genes ; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit embryonic lethality at E9.	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA5	https://www.uniprot.org/uniprot/Q16718		https://www.ncbi.nlm.nih.gov/omim/?term=601677	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA5&submit=Quick%0D%6163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA5	rs6737	0.237021	0	0	1	0	0	UTR3	UTR3	UTR3	NDUFA5(NM_001291304:c.*901G>C,NM_001282419:c.*901G>C,NM_005000:c.*901G>C,NM_001282422:c.*901G>C,NM_001282421:c.*901G>C,NM_001282420:c.*901G>C)	NDUFA5(uc003vks.3:c.*901G>C)	ENSG00000128609(ENST00000471770:c.*901G>C,ENST00000355749:c.*901G>C,ENST00000378795:c.*901G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	1487;63|65	Hom;C>G	2443;3|86
N	N	-	7	123185789	123185791	CTA	C	indel	intronic	 	 	 	 	NDUFA5	Ndufa5	ENSG00000128609	NADH:ubiquinone oxidoreductase subunit A5	chr7:123177051-123198309	This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]	prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; drug-related genes ; Tobacco Use Disorder	Mice homozygous for a gene trap allele exhibit embryonic lethality at E9.	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0022904;respiratory electron transport chain;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0045271;respiratory chain complex I;IEA|GO:0070469;respiratory chain;IEA	GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA5	https://www.uniprot.org/uniprot/Q16718		https://www.ncbi.nlm.nih.gov/omim/?term=601677	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA5&submit=Quick%0D%6163ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA5	rs3837115	0.305511	0.2912	0	1	0	0	intronic	intronic	intronic	NDUFA5	NDUFA5	ENSG00000128609	Na	Na	Na	Na	Na	Na	Het;-TA	224;10|8	Hom;-TA	789;0|21
N	N	-	7	123256427	123256427	C	T	snp	nonsynonymous SNV	C170T	P57L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ASB15	Asb15	ENSG00000146809	ankyrin repeat and SOCS box containing 15	chr7:123207064-123277951	This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ASB15	https://www.uniprot.org/uniprot/Q8WXK1			http://www.informatics.jax.org/searchtool/Search.do?query=ASB15&submit=Quick%0D%8915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB15	rs6962756	0.779353	0.7854	0.7785	0.15	2	13	exonic	exonic	exonic	ASB15	ASB15	ENSG00000146809	nonsynonymous SNV	nonsynonymous SNV	unknown	ASB15:NM_080928:exon4:c.C170T:p.P57L,ASB15:NM_001290258:exon6:c.C170T:p.P57L,	ASB15:uc003vkv.1:exon5:c.C170T:p.P57L,ASB15:uc003vkw.1:exon4:c.C170T:p.P57L,ASB15:uc003vku.1:exon6:c.C170T:p.P57L,	UNKNOWN	Het;C>T	780;42|38	Hom;C>T	2674;0|95
N	N	-	7	123256643	123256643	G	T	snp	ncRNA_intronic	 	 	 	 	LOC102724555																		rs6963354	0.517372	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC102724555	ASB15	ENSG00000230442	Na	Na	Na	Na	Na	Na	Het;G>T	123;2|5	Hom;G>T	257;0|9
N	N	-	7	123264804	123264804	C	T	snp	synonymous SNV	C633T	V211V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ASB15	Asb15	ENSG00000146809	ankyrin repeat and SOCS box containing 15	chr7:123207064-123277951	This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ASB15	https://www.uniprot.org/uniprot/Q8WXK1			http://www.informatics.jax.org/searchtool/Search.do?query=ASB15&submit=Quick%0D%8915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB15	rs11769381	0.469649	0.4100	0.4718	1	0	0	exonic	exonic	exonic	ASB15	ASB15	ENSG00000146809	synonymous SNV	synonymous SNV	unknown	ASB15:NM_080928:exon6:c.C633T:p.V211V,ASB15:NM_001290258:exon8:c.C633T:p.V211V,	ASB15:uc003vkv.1:exon7:c.C633T:p.V211V,ASB15:uc003vkw.1:exon6:c.C633T:p.V211V,ASB15:uc003vku.1:exon8:c.C633T:p.V211V,	UNKNOWN	Het;C>T	1244;64|56	Hom;C>T	3444;0|124
N	N	-	7	123269118	123269118	G	C	snp	nonsynonymous SNV	G1070C	G357A	aliphatic,neutral	aliphatic,hydrophobic,neutral	ASB15	Asb15	ENSG00000146809	ankyrin repeat and SOCS box containing 15	chr7:123207064-123277951	This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ASB15	https://www.uniprot.org/uniprot/Q8WXK1			http://www.informatics.jax.org/searchtool/Search.do?query=ASB15&submit=Quick%0D%8915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB15	rs4731112	0.791733	0.7197	0.7411	0.23	3	13	exonic	exonic	exonic	ASB15	ASB15	ENSG00000146809	nonsynonymous SNV	nonsynonymous SNV	unknown	ASB15:NM_080928:exon8:c.G1070C:p.G357A,ASB15:NM_001290258:exon10:c.G1070C:p.G357A,	ASB15:uc003vkw.1:exon8:c.G1070C:p.G357A,ASB15:uc003vku.1:exon10:c.G1070C:p.G357A,	UNKNOWN	Het;G>C	2147;104|100	Hom;G>C	5077;0|176
N	N	-	7	123269976	123269976	G	GGC	indel	intronic	 	 	 	 	ASB15	Asb15	ENSG00000146809	ankyrin repeat and SOCS box containing 15	chr7:123207064-123277951	This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ASB15	https://www.uniprot.org/uniprot/Q8WXK1			http://www.informatics.jax.org/searchtool/Search.do?query=ASB15&submit=Quick%0D%8915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB15	rs3993666	0.791733	0.7218	0.7450	1	0	0	intronic	intronic	intronic	ASB15	ASB15	ENSG00000146809	Na	Na	Na	Na	Na	Na	Het;+GC	1819;22|45	Hom;+GC	1718;0|39
N	N	-	7	123295964	123295964	C	T	snp	UTR5	-54C>T	 	 	 	LMOD2	Lmod2	ENSG00000170807	leiomodin 2	chr7:123295861-123304344		schizophrenia weight gain	Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death.		GO:0030041;actin filament polymerization;IEA|GO:0030838;positive regulation of actin filament polymerization;IDA|GO:0045010;actin nucleation;IDA|GO:0045214;sarcomere organization;IMP|GO:0051694;pointed-end actin filament capping;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0030016;myofibril;IDA|GO:0030017;sarcomere;IDA|GO:0031430;M band;IDA	GO:0003779;actin binding;IDA|GO:0005523;tropomyosin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMOD2			https://www.ncbi.nlm.nih.gov/omim/?term=608006	http://www.informatics.jax.org/searchtool/Search.do?query=LMOD2&submit=Quick%0D%12780ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMOD2	rs7779099	0.798123	0	0	1	0	0	UTR5	UTR5	UTR5	LMOD2(NM_207163:c.-54C>T)	LMOD2(uc003vky.2:c.-54C>T)	ENSG00000170807(ENST00000458573:c.-54C>T,ENST00000456238:c.-54C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	269;1|10	Hom;C>T	644;0|21
N	N	-	7	123296320	123296320	C	A	snp	intronic	 	 	 	 	LMOD2	Lmod2	ENSG00000170807	leiomodin 2	chr7:123295861-123304344		schizophrenia weight gain	Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death.		GO:0030041;actin filament polymerization;IEA|GO:0030838;positive regulation of actin filament polymerization;IDA|GO:0045010;actin nucleation;IDA|GO:0045214;sarcomere organization;IMP|GO:0051694;pointed-end actin filament capping;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0030016;myofibril;IDA|GO:0030017;sarcomere;IDA|GO:0031430;M band;IDA	GO:0003779;actin binding;IDA|GO:0005523;tropomyosin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMOD2			https://www.ncbi.nlm.nih.gov/omim/?term=608006	http://www.informatics.jax.org/searchtool/Search.do?query=LMOD2&submit=Quick%0D%12780ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMOD2	rs12538876	0.483626	0.4197	0.5056	1	0	0	intronic	intronic	intronic	LMOD2	LMOD2	ENSG00000170807	Na	Na	Na	Na	Na	Na	Het;C>A	454;15|22	Hom;C>A	1136;0|45
N	N	-	7	123301940	123301940	A	G	snp	synonymous SNV	A300G	E100E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LMOD2	Lmod2	ENSG00000170807	leiomodin 2	chr7:123295861-123304344		schizophrenia weight gain	Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death.		GO:0030041;actin filament polymerization;IEA|GO:0030838;positive regulation of actin filament polymerization;IDA|GO:0045010;actin nucleation;IDA|GO:0045214;sarcomere organization;IMP|GO:0051694;pointed-end actin filament capping;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0030016;myofibril;IDA|GO:0030017;sarcomere;IDA|GO:0031430;M band;IDA	GO:0003779;actin binding;IDA|GO:0005523;tropomyosin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LMOD2			https://www.ncbi.nlm.nih.gov/omim/?term=608006	http://www.informatics.jax.org/searchtool/Search.do?query=LMOD2&submit=Quick%0D%12780ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMOD2	rs7809453	0.505391	0.4233	0.5514	1	0	0	exonic	exonic	exonic	LMOD2	LMOD2	ENSG00000170807	synonymous SNV	synonymous SNV	unknown	LMOD2:NM_207163:exon2:c.A300G:p.E100E,	LMOD2:uc003vky.2:exon2:c.A300G:p.E100E,	UNKNOWN	Het;A>G	906;80|46	Hom;A>G	3612;1|124
N	N	-	7	123324745	123324748	CCAG	C	indel	intronic	 	 	 	 	WASL	Wasl	ENSG00000106299	Wiskott-Aldrich syndrome like	chr7:123321989-123389121	This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]	Cholesterol, HDL; Platelet Count	Homozygous mutants exhibit developmental retardation, fail to undergo turning, show abnormal differentiation of intra- and extra-embryonal mesoderm, and die around midgestation.	Clathrin-mediated endocytosis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;TAS|GO:0006900;membrane budding;ISS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007049;cell cycle;IEA|GO:0008154;actin polymerization or depolymerization;TAS|GO:0009617;response to bacterium;IEA|GO:0016050;vesicle organization;ISS|GO:0030036;actin cytoskeleton organization;IEA|GO:0030050;vesicle transport along actin filament;ISS|GO:0032880;regulation of protein localization;IEA|GO:0034629;cellular protein complex localization;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051301;cell division;IEA|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0051653;spindle localization;IEA|GO:0060997;dendritic spine morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:1903526;negative regulation of membrane tubulation;IDA|GO:2000370;positive regulation of clathrin-dependent endocytosis;ISS|GO:2000402;negative regulation of lymphocyte migration;IMP|GO:2000601;positive regulation of Arp2/3 complex-mediated actin nucleation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0030695;GTPase regulator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/WASL	https://www.uniprot.org/uniprot/O00401		https://www.ncbi.nlm.nih.gov/omim/?term=605056	http://www.informatics.jax.org/searchtool/Search.do?query=WASL&submit=Quick%0D%3474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WASL	rs147291543	0.501997	0	0	1	0	0	intronic	intronic	intronic	WASL	WASL	ENSG00000106299	Na	Na	Na	Na	Na	Na	Het;-CAG	532;17|15	Hom;-CAG	1605;0|37
N	N	-	7	123334696	123334697	GT	G	indel	intronic	 	 	 	 	WASL	Wasl	ENSG00000106299	Wiskott-Aldrich syndrome like	chr7:123321989-123389121	This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]	Cholesterol, HDL; Platelet Count	Homozygous mutants exhibit developmental retardation, fail to undergo turning, show abnormal differentiation of intra- and extra-embryonal mesoderm, and die around midgestation.	Clathrin-mediated endocytosis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;TAS|GO:0006900;membrane budding;ISS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007049;cell cycle;IEA|GO:0008154;actin polymerization or depolymerization;TAS|GO:0009617;response to bacterium;IEA|GO:0016050;vesicle organization;ISS|GO:0030036;actin cytoskeleton organization;IEA|GO:0030050;vesicle transport along actin filament;ISS|GO:0032880;regulation of protein localization;IEA|GO:0034629;cellular protein complex localization;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051301;cell division;IEA|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0051653;spindle localization;IEA|GO:0060997;dendritic spine morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:1903526;negative regulation of membrane tubulation;IDA|GO:2000370;positive regulation of clathrin-dependent endocytosis;ISS|GO:2000402;negative regulation of lymphocyte migration;IMP|GO:2000601;positive regulation of Arp2/3 complex-mediated actin nucleation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0030695;GTPase regulator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/WASL	https://www.uniprot.org/uniprot/O00401		https://www.ncbi.nlm.nih.gov/omim/?term=605056	http://www.informatics.jax.org/searchtool/Search.do?query=WASL&submit=Quick%0D%3474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WASL	rs35280100	0.504792	0	0	1	0	0	intronic	intronic	intronic	WASL	WASL	ENSG00000106299	Na	Na	Na	Na	Na	Na	Het;-T	893;23|29	Hom;-T	1020;0|28
N	N	-	7	123388732	123388732	G	A	snp	synonymous SNV	C57T	S19S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	WASL	Wasl	ENSG00000106299	Wiskott-Aldrich syndrome like	chr7:123321989-123389121	This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]	Cholesterol, HDL; Platelet Count	Homozygous mutants exhibit developmental retardation, fail to undergo turning, show abnormal differentiation of intra- and extra-embryonal mesoderm, and die around midgestation.	Clathrin-mediated endocytosis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;TAS|GO:0006900;membrane budding;ISS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007049;cell cycle;IEA|GO:0008154;actin polymerization or depolymerization;TAS|GO:0009617;response to bacterium;IEA|GO:0016050;vesicle organization;ISS|GO:0030036;actin cytoskeleton organization;IEA|GO:0030050;vesicle transport along actin filament;ISS|GO:0032880;regulation of protein localization;IEA|GO:0034629;cellular protein complex localization;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051301;cell division;IEA|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0051653;spindle localization;IEA|GO:0060997;dendritic spine morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:1903526;negative regulation of membrane tubulation;IDA|GO:2000370;positive regulation of clathrin-dependent endocytosis;ISS|GO:2000402;negative regulation of lymphocyte migration;IMP|GO:2000601;positive regulation of Arp2/3 complex-mediated actin nucleation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;ISS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0030695;GTPase regulator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/WASL	https://www.uniprot.org/uniprot/O00401		https://www.ncbi.nlm.nih.gov/omim/?term=605056	http://www.informatics.jax.org/searchtool/Search.do?query=WASL&submit=Quick%0D%3474ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WASL	rs1054706	0.477236	0.4236	0.4971	1	0	0	exonic	exonic	exonic	WASL	WASL	ENSG00000106299	synonymous SNV	synonymous SNV	unknown	WASL:NM_003941:exon1:c.C57T:p.S19S,	WASL:uc003vkz.3:exon1:c.C57T:p.S19S,	UNKNOWN	Het;G>A	1060;67|50	Hom;G>A	2468;2|93
N	N	-	7	123594206	123594206	G	A	snp	synonymous SNV	G582A	K194K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SPAM1	Hyal5	ENSG00000106304	sperm adhesion molecule 1	chr7:123565286-123611468	Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Cleft Lip|Cleft Palate	Male homozygotes for a targeted null mutation are normally fertile, but in vitro their sperm are slower at clearing cells from the cumulus mass.	Interaction With Cumulus Cells	GO:0005975;carbohydrate metabolic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007339;binding of sperm to zona pellucida;TAS|GO:0007342;fusion of sperm to egg plasma membrane;IEA|GO:0008152;metabolic process;IEA|GO:0035036;sperm-egg recognition;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004415;hyalurononglucosaminidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPAM1	https://www.uniprot.org/uniprot/P38567		https://www.ncbi.nlm.nih.gov/omim/?term=600930	http://www.informatics.jax.org/searchtool/Search.do?query=SPAM1&submit=Quick%0D%3476ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAM1	rs2285996	0.247005	0.2384	0.2814	1	0	0	exonic	exonic	exonic	SPAM1	SPAM1	ENSG00000106304	synonymous SNV	synonymous SNV	unknown	SPAM1:NM_001174046:exon3:c.G582A:p.K194K,SPAM1:NM_001174044:exon3:c.G582A:p.K194K,SPAM1:NM_153189:exon3:c.G582A:p.K194K,SPAM1:NM_001174045:exon4:c.G582A:p.K194K,SPAM1:NM_003117:exon3:c.G582A:p.K194K,	SPAM1:uc022aks.1:exon3:c.G582A:p.K194K,SPAM1:uc003vlf.4:exon4:c.G582A:p.K194K,SPAM1:uc003vld.3:exon3:c.G582A:p.K194K,SPAM1:uc003vle.3:exon3:c.G582A:p.K194K,SPAM1:uc010lku.3:exon3:c.G582A:p.K194K,	UNKNOWN	Het;G>A	2454;102|104	Hom;G>A	5982;2|208
N	N	-	7	123638994	123638994	C	T	snp	ncRNA_intronic	 	 	 	 	BC041947																		rs62473379	0.241813	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	SPAM1(dist=27533),TMEM229A(dist=31976)	BC041947,L13779	ENSG00000241345	Na	Na	Na	Na	Na	Na	Het;C>T	192;5|8	Hom;C>T	505;2|20
N	N	-	7	12395813	12395813	T	C	snp	synonymous SNV	A2031G	Q677Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	VWDE	Vwde	ENSG00000146530	von Willebrand factor D and EGF domains	chr7:12370511-12443567		Prostatic Neoplasms; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Waist-Hip Ratio	 			GO:0005576;extracellular region;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VWDE	https://www.uniprot.org/uniprot/Q8N2E2			http://www.informatics.jax.org/searchtool/Search.do?query=VWDE&submit=Quick%0D%8891ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VWDE	rs2119141	0.770767	0.7387	0.7698	1	0	0	exonic	exonic	exonic	VWDE	VWDE	ENSG00000146530	synonymous SNV	synonymous SNV	unknown	VWDE:NM_001135924:exon18:c.A3669G:p.Q1223Q,	VWDE:uc011jxm.1:exon15:c.A2031G:p.Q677Q,VWDE:uc003ssj.2:exon18:c.A3669G:p.Q1223Q,	UNKNOWN	Het;T>C	794;47|35	Hom;T>C	2336;0|87
N	N	-	7	12406989	12406989	C	G	snp	nonsynonymous SNV	G2892C	K964N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	VWDE	Vwde	ENSG00000146530	von Willebrand factor D and EGF domains	chr7:12370511-12443567		Prostatic Neoplasms; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Waist-Hip Ratio	 			GO:0005576;extracellular region;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VWDE	https://www.uniprot.org/uniprot/Q8N2E2			http://www.informatics.jax.org/searchtool/Search.do?query=VWDE&submit=Quick%0D%8891ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VWDE	rs6460939	0.521765	0.4943	0.5387	0.46	6	13	exonic	exonic	exonic	VWDE	VWDE	ENSG00000146530	nonsynonymous SNV	nonsynonymous SNV	unknown	VWDE:NM_001135924:exon13:c.G2892C:p.K964N,	VWDE:uc011jxm.1:exon10:c.G1254C:p.K418N,VWDE:uc003ssj.2:exon13:c.G2892C:p.K964N,	UNKNOWN	Het;C>G	83;21|8	Hom;C>G	1376;0|51
N	N	-	7	124387374	124387374	A	G	snp	synonymous SNV	T1047C	T349T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GPR37	Gpr37	ENSG00000170775	G protein-coupled receptor 37	chr7:124386051-124405681	This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]	Hyperparathyroidism, Secondary	Mice homozygous for disruptions in this gene exhibit reduced striatal dopamine content, enhanced amphetamine sensitivity, reduced motor activity and coordination and increased percentage of body fat in females.	Peptide ligand-binding receptors	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IDA|GO:0031987;locomotion involved in locomotory behavior;IEA|GO:0042416;dopamine biosynthetic process;IEA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;ISS	GO:0000151;ubiquitin ligase complex;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;IDA|GO:0030544;Hsp70 protein binding;IPI|GO:0031072;heat shock protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036505;prosaposin receptor activity;IDA|GO:0042277;peptide binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GPR37			https://www.ncbi.nlm.nih.gov/omim/?term=602583	http://www.informatics.jax.org/searchtool/Search.do?query=GPR37&submit=Quick%0D%12770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR37	rs724356	0.71865	0.6486	0.7707	1	0	0	exonic	exonic	exonic	GPR37	GPR37	ENSG00000170775	synonymous SNV	synonymous SNV	unknown	GPR37:NM_005302:exon2:c.T1047C:p.T349T,	GPR37:uc003vli.4:exon2:c.T1047C:p.T349T,	UNKNOWN	Het;A>G	1332;66|64	Hom;A>G	3650;0|130
N	N	-	7	124477182	124477182	A	G	snp	intronic	 	 	 	 	POT1	Pot1a	ENSG00000128513	protection of telomeres 1	chr7:124462440-124570037	This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]	breast cancer ; breast cancer; bladder cancer; lung cancer; chronic obstructive pulmonary disease; lung cancer ; Endometrial Neoplasms; null; Cardiovascular Diseases|Cerebrovascular Disorders	Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture.	DNA Damage/Telomere Stress Induced Senescence	GO:0000723;telomere maintenance;IEA|GO:0007004;telomere maintenance via telomerase;IDA|GO:0016233;telomere capping;TAS|GO:0032202;telomere assembly;IDA|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032211;negative regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;IDA|GO:0032508;DNA duplex unwinding;IDA|GO:0051096;positive regulation of helicase activity;IDA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0051974;negative regulation of telomerase activity;IDA|GO:0060383;positive regulation of DNA strand elongation;IDA|GO:0061820;telomeric D-loop disassembly;IGI|GO:0070200;establishment of protein localization to telomere;IMP|GO:1905774;regulation of DNA helicase activity;IDA|GO:1905776;positive regulation of DNA helicase activity;IDA	GO:0000781;chromosome, telomeric region;IDA|GO:0000783;nuclear telomere cap complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0070187;shelterin complex;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010521;telomerase inhibitor activity;IDA|GO:0017151;DEAD/H-box RNA helicase binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0043047;single-stranded telomeric DNA binding;IEA|GO:0061821;telomeric D-loop binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA|GO:1905773;8-hydroxy-2'-deoxyguanosine DNA binding;IDA|GO:1990955;G-rich single-stranded DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POT1	https://www.uniprot.org/uniprot/Q9NUX5	https://hpo.jax.org/app/browse/search?q=POT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606478	http://www.informatics.jax.org/searchtool/Search.do?query=POT1&submit=Quick%0D%6142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POT1	rs7787804	0.701677	0	0	1	0	0	intronic	intronic	intronic	POT1	POT1	ENSG00000128513	Na	Na	Na	Na	Na	Na	Het;A>G	757;35|36	Hom;A>G	1131;0|40
N	N	-	7	124486980	124486980	T	C	snp	intronic	 	 	 	 	POT1	Pot1a	ENSG00000128513	protection of telomeres 1	chr7:124462440-124570037	This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]	breast cancer ; breast cancer; bladder cancer; lung cancer; chronic obstructive pulmonary disease; lung cancer ; Endometrial Neoplasms; null; Cardiovascular Diseases|Cerebrovascular Disorders	Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture.	DNA Damage/Telomere Stress Induced Senescence	GO:0000723;telomere maintenance;IEA|GO:0007004;telomere maintenance via telomerase;IDA|GO:0016233;telomere capping;TAS|GO:0032202;telomere assembly;IDA|GO:0032210;regulation of telomere maintenance via telomerase;IGI|GO:0032211;negative regulation of telomere maintenance via telomerase;IGI|GO:0032212;positive regulation of telomere maintenance via telomerase;IDA|GO:0032508;DNA duplex unwinding;IDA|GO:0051096;positive regulation of helicase activity;IDA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0051974;negative regulation of telomerase activity;IDA|GO:0060383;positive regulation of DNA strand elongation;IDA|GO:0061820;telomeric D-loop disassembly;IGI|GO:0070200;establishment of protein localization to telomere;IMP|GO:1905774;regulation of DNA helicase activity;IDA|GO:1905776;positive regulation of DNA helicase activity;IDA	GO:0000781;chromosome, telomeric region;IDA|GO:0000783;nuclear telomere cap complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0070187;shelterin complex;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010521;telomerase inhibitor activity;IDA|GO:0017151;DEAD/H-box RNA helicase binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0043047;single-stranded telomeric DNA binding;IEA|GO:0061821;telomeric D-loop binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA|GO:1905773;8-hydroxy-2'-deoxyguanosine DNA binding;IDA|GO:1990955;G-rich single-stranded DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POT1	https://www.uniprot.org/uniprot/Q9NUX5	https://hpo.jax.org/app/browse/search?q=POT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606478	http://www.informatics.jax.org/searchtool/Search.do?query=POT1&submit=Quick%0D%6142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POT1	rs7794637	0.721845	0.7104	0.6950	1	0	0	intronic	intronic	intronic	POT1	POT1	ENSG00000128513	Na	Na	Na	Na	Na	Na	Het;T>C	362;18|18	Hom;T>C	390;0|14
N	N	-	7	124969815	124969815	C	T	snp	ncRNA_intronic	 	 	 	 	LOC101928283																		rs56297227	0.297724	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928283	EF565094(dist=65470),GRM8(dist=1108837)	ENSG00000237764	Na	Na	Na	Na	Na	Na	Het;C>T	832;30|41	Hom;C>T	1861;2|74
N	N	-	7	12580554	12580554	T	G	snp	ncRNA_exonic	 	 	 	 	AC013470.2																		rs2254159	0.650559	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	VWDE(dist=136702),SCIN(dist=29649)	VWDE(dist=136702),BC075797(dist=15633)	ENSG00000226690	Na	Na	Na	Na	Na	Na	Het;T>G	230;24|12	Hom;T>G	1385;0|47
N	N	-	7	126019317	126019317	C	G	snp	ncRNA_intronic	 	 	 	 	AC000372.1																		rs4490777	0.527356	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC101928283(dist=999942),GRM8(dist=59335)	EF565094(dist=1114972),GRM8(dist=59335)	ENSG00000241921	Na	Na	Na	Na	Na	Na	Het;C>G	182;11|10	Hom;C>G	719;0|27
N	N	-	7	126078883	126078884	AT	A	indel	UTR3	*290_*289delinsT	 	 	 	GRM8	Grm8	ENSG00000179603	glutamate metabotropic receptor 8	chr7:126078652-126893348	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Weight Gain; smoking; Heroin Dependence; Electrocardiography; schizophrenia; Opioid-Related Disorders; Chemokines; Alcoholism|; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Mass Index; Psychiatric Disorders; Tobacco Use Disorder; delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced; Myocardial Infarction; Triglycerides; plasma chemerin levels ; autism; autistic spectrum disorder ; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Insulin; Carotid atherosclerosis in HIV infection; Carotid Artery Diseases; Depression; Autism; Alcoholism	Mice homozygous for a knock-out allele are overweight and mildly insulin resistant, and display increased anxiety-related responses and reduced exploration in a new environment. Mice homozygous for a different knock-out allele exhibit altered excitatory responses in the dentate gyrus.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IMP|GO:0007601;visual perception;TAS|GO:0007608;sensory perception of smell;IEA|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0050896;response to stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042734;presynaptic membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008066;glutamate receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRM8			https://www.ncbi.nlm.nih.gov/omim/?term=601116	http://www.informatics.jax.org/searchtool/Search.do?query=GRM8&submit=Quick%0D%14362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM8	rs34182595	0.404752	0	0	1	0	0	UTR3	UTR3	UTR3	GRM8(NM_000845:c.*290_*289delinsT,NM_001127323:c.*345_*344delinsT)	GRM8(uc003vlr.2:c.*290_*289delinsT,uc003vlt.2:c.*345_*344delinsT)	ENSG00000179603(ENST00000444921:c.*290_*289delinsT,ENST00000339582:c.*290_*289delinsT,ENST00000358373:c.*345_*344delinsT,ENST00000341617:c.*1582_*1581delinsT)	Na	Na	Na	Na	Na	Na	Het;-T	1936;55|92	Hom;-T	3422;0|131
N	N	-	7	126079144	126079144	A	G	snp	UTR3	*29T>C	 	 	 	GRM8	Grm8	ENSG00000179603	glutamate metabotropic receptor 8	chr7:126078652-126893348	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Weight Gain; smoking; Heroin Dependence; Electrocardiography; schizophrenia; Opioid-Related Disorders; Chemokines; Alcoholism|; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Mass Index; Psychiatric Disorders; Tobacco Use Disorder; delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced; Myocardial Infarction; Triglycerides; plasma chemerin levels ; autism; autistic spectrum disorder ; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Insulin; Carotid atherosclerosis in HIV infection; Carotid Artery Diseases; Depression; Autism; Alcoholism	Mice homozygous for a knock-out allele are overweight and mildly insulin resistant, and display increased anxiety-related responses and reduced exploration in a new environment. Mice homozygous for a different knock-out allele exhibit altered excitatory responses in the dentate gyrus.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IMP|GO:0007601;visual perception;TAS|GO:0007608;sensory perception of smell;IEA|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0050896;response to stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042734;presynaptic membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008066;glutamate receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRM8			https://www.ncbi.nlm.nih.gov/omim/?term=601116	http://www.informatics.jax.org/searchtool/Search.do?query=GRM8&submit=Quick%0D%14362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM8	rs712723	0.404752	0.4081	0.4109	1	0	0	UTR3	UTR3	UTR3	GRM8(NM_000845:c.*29T>C,NM_001127323:c.*84T>C)	GRM8(uc003vlr.2:c.*29T>C,uc003vlt.2:c.*84T>C)	ENSG00000179603(ENST00000444921:c.*29T>C,ENST00000339582:c.*29T>C,ENST00000358373:c.*84T>C,ENST00000341617:c.*1321T>C,ENST00000472701:c.*302T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	2540;133|122	Hom;A>G	6164;2|229
N	N	-	7	12629769	12629769	G	C	snp	intronic	 	 	 	 	SCIN	Scin	ENSG00000006747	scinderin	chr7:12610203-12693228	SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]	Heart Failure	Mice homozygous for a conditional allele knocked-out in osteoclasts exhibit impaired osteoclast differentiation and reduced peridontal disease-mediated bone loss.		GO:0008285;negative regulation of cell proliferation;IMP|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0032330;regulation of chondrocyte differentiation;ISS|GO:0042989;sequestering of actin monomers;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045010;actin nucleation;ISS|GO:0045654;positive regulation of megakaryocyte differentiation;IMP|GO:0051014;actin filament severing;IMP|GO:0051047;positive regulation of secretion;ISS|GO:0051127;positive regulation of actin nucleation;IMP|GO:0051693;actin filament capping;IEA	GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005903;brush border;IEA|GO:0005938;cell cortex;ISS|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0001786;phosphatidylserine binding;ISS|GO:0003779;actin binding;IEA|GO:0005509;calcium ion binding;ISS|GO:0005545;1-phosphatidylinositol binding;TAS|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SCIN	https://www.uniprot.org/uniprot/Q9Y6U3		https://www.ncbi.nlm.nih.gov/omim/?term=613416	http://www.informatics.jax.org/searchtool/Search.do?query=SCIN&submit=Quick%0D%421ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCIN	rs4361677	0.559505	0	0	1	0	0	intronic	intronic	intronic	SCIN	SCIN	ENSG00000006747	Na	Na	Na	Na	Na	Na	Het;G>C	134;2|4	Hom;G>C	161;0|6
N	N	-	7	126594857	126594857	G	T	snp	intronic	 	 	 	 	GRM8	Grm8	ENSG00000179603	glutamate metabotropic receptor 8	chr7:126078652-126893348	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Weight Gain; smoking; Heroin Dependence; Electrocardiography; schizophrenia; Opioid-Related Disorders; Chemokines; Alcoholism|; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Mass Index; Psychiatric Disorders; Tobacco Use Disorder; delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced; Myocardial Infarction; Triglycerides; plasma chemerin levels ; autism; autistic spectrum disorder ; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Insulin; Carotid atherosclerosis in HIV infection; Carotid Artery Diseases; Depression; Autism; Alcoholism	Mice homozygous for a knock-out allele are overweight and mildly insulin resistant, and display increased anxiety-related responses and reduced exploration in a new environment. Mice homozygous for a different knock-out allele exhibit altered excitatory responses in the dentate gyrus.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IMP|GO:0007601;visual perception;TAS|GO:0007608;sensory perception of smell;IEA|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0050896;response to stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042734;presynaptic membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008066;glutamate receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRM8			https://www.ncbi.nlm.nih.gov/omim/?term=601116	http://www.informatics.jax.org/searchtool/Search.do?query=GRM8&submit=Quick%0D%14362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM8	rs1204570	0.898363	0	0	1	0	0	intronic	intronic	intronic	GRM8	GRM8	ENSG00000179603	Na	Na	Na	Na	Na	Na	Het;G>T	352;15|19	Hom;G>T	518;0|19
N	N	-	7	127026342	127026342	G	A	snp	intronic	 	 	 	 	ZNF800	Zfp800	ENSG00000048405	zinc finger protein 800	chr7:126986844-127071978		Echocardiography; Body Height; Diabetes Mellitus, Type 2	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF800	https://www.uniprot.org/uniprot/Q2TB10			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF800&submit=Quick%0D%888ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF800	rs6962137	0.704073	0	0	1	0	0	intronic	intronic	intronic	ZNF800	ZNF800	ENSG00000048405	Na	Na	Na	Na	Na	Na	Het;G>A	356;2|13	Hom;G>A	109;0|4
N	N	-	7	128040699	128040699	C	T	snp	intronic	 	 	 	 	IMPDH1	Impdh1	ENSG00000106348	inosine monophosphate dehydrogenase 1	chr7:128032331-128050306	The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]	Chronic renal failure|Kidney Failure, Chronic; retinitis pigmentosa; normal variation; mycophenolate mofetil; kidney transplantation; Retinitis Pigmentosa; Retinal Diseases	Mic homozygous for disruptions of this gene display abnormalities in T cell proliferation. Mice homozygous for an ENU-induced mutation exhibit reduced thickness of the outer nuclear layer and total retina thickness.	Purine ribonucleoside monophosphate biosynthesis	GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006177;GMP biosynthetic process;IEA|GO:0006183;GTP biosynthetic process;IBA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046651;lymphocyte proliferation;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IDA|GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003938;IMP dehydrogenase activity;EXP|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IMPDH1	https://www.uniprot.org/uniprot/P20839	https://hpo.jax.org/app/browse/search?q=IMPDH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146690	http://www.informatics.jax.org/searchtool/Search.do?query=IMPDH1&submit=Quick%0D%3487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPDH1	rs2278294	0.441094	0	0	1	0	0	intronic	intronic	intronic	IMPDH1	IMPDH1	ENSG00000106348	Na	Na	Na	Na	Na	Na	Het;C>T	227;14|11	Hom;C>T	517;0|18
N	N	-	7	128141865	128141865	T	C	snp	synonymous SNV	T837C	N279N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	METTL2B	Mettl2	ENSG00000165055	methyltransferase like 2B	chr7:128116783-128146656	This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of tRNA.		GO:0030488;tRNA methylation;IMP|GO:0032259;methylation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008168;methyltransferase activity;IEA|GO:0016427;tRNA (cytosine) methyltransferase activity;IMP|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/METTL2B			https://www.ncbi.nlm.nih.gov/omim/?term=607846	http://www.informatics.jax.org/searchtool/Search.do?query=METTL2B&submit=Quick%0D%11453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=METTL2B	rs1053124	0.78095	0.7866	0.7811	1	0	0	exonic	exonic	exonic	METTL2B	METTL2B	ENSG00000165055	synonymous SNV	synonymous SNV	unknown	METTL2B:NM_018396:exon9:c.T1032C:p.N344N,	METTL2B:uc003vng.3:exon8:c.T837C:p.N279N,METTL2B:uc011kop.2:exon8:c.T624C:p.N208N,METTL2B:uc003vnf.3:exon9:c.T1032C:p.N344N,	UNKNOWN	Het;T>C	4086;156|193	Hom;T>C	9716;2|354
N	N	-	7	128281256	128281256	G	A	snp	upstream	 	 	 	 	FLJ45340																		rs2402923	0.467652	0	0	1	0	0	upstream	upstream	intergenic	LINC01000	FLJ45340	ENSG00000242588(dist=11744),ENSG00000243302(dist=9983)	Na	Na	Na	Na	Na	Na	Het;G>A	2460;91|113	Hom;G>A	4986;0|187
N	N	-	7	128292036	128292036	G	C	snp	nonsynonymous SNV	G797C	R266P	polar,hydrophilic,charged(+)	hydrophobic,neutral	FLJ45340																		rs62481923	0.48742	0	0.4274	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LINC01000	FLJ45340	ENSG00000243302	Na	nonsynonymous SNV	Na	Na	FLJ45340:uc010lll.2:exon5:c.G797C:p.R266P,	Na	Het;G>C	2172;117|101	Hom;G>C	6445;1|225
N	N	-	7	128294349	128294349	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01000																		rs10227728	0.48742	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	LINC01000	FLJ45340(uc010lll.2:c.*1994T>C)	ENSG00000243679	Na	Na	Na	Na	Na	Na	Het;T>C	2583;97|104	Hom;T>C	5959;0|163
N	N	-	7	129410195	129410195	G	A	snp	downstream	 	 	 	 	MIR182																		rs4541843	0.286542	0.4636	0.4562	1	0	0	downstream	downstream	downstream	MIR182	MIR182	ENSG00000207990	Na	Na	Na	Na	Na	Na	Het;G>A	580;27|28	Hom;G>A	1784;0|68
N	N	-	7	129680994	129680994	A	ATG	indel	intronic	 	 	 	 	ZC3HC1	Zc3hc1	ENSG00000091732	zinc finger C3HC-type containing 1	chr7:129658126-129691291	This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]	Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease	Mice homozygous for a null mutation display partial lethality with male infertility, reduced female fertility, arrest of meiosis, impaired synaptonemal complex formation and delayed double strand DNA break repair.		GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0051301;cell division;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA	GO:0005634;nucleus;IEA|GO:0031965;nuclear membrane;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC3HC1	https://www.uniprot.org/uniprot/Q86WB0			http://www.informatics.jax.org/searchtool/Search.do?query=ZC3HC1&submit=Quick%0D%2164ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3HC1	rs34409527	0.534545	0	0	1	0	0	intronic	intronic	intronic	ZC3HC1	ZC3HC1	ENSG00000091732	Na	Na	Na	Na	Na	Na	Het;+TG	163;5|7	Hom;+TG	401;0|13
N	N	-	7	130002317	130002317	T	C	snp	synonymous SNV	T573C	I191I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CPA5	Cpa5	ENSG00000158525	carboxypeptidase A5	chr7:129984630-130008571	Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008]	Attention Deficit Disorder with Hyperactivity	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPA5			https://www.ncbi.nlm.nih.gov/omim/?term=609561	http://www.informatics.jax.org/searchtool/Search.do?query=CPA5&submit=Quick%0D%10220ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPA5	rs1544705	0.754393	0.7061	0.8177	1	0	0	exonic	exonic	exonic	CPA5	CPA5	ENSG00000158525	synonymous SNV	synonymous SNV	unknown	CPA5:NM_001127442:exon7:c.T573C:p.I191I,CPA5:NM_080385:exon8:c.T573C:p.I191I,CPA5:NM_001127441:exon9:c.T573C:p.I191I,	CPA5:uc003vpt.2:exon7:c.T573C:p.I191I,CPA5:uc010lmd.1:exon9:c.T573C:p.I191I,CPA5:uc010lme.1:exon7:c.T573C:p.I191I,CPA5:uc003vps.2:exon8:c.T573C:p.I191I,CPA5:uc003vpu.1:exon7:c.T573C:p.I191I,	UNKNOWN	Het;T>C	952;65|50	Hom;T>C	3302;0|119
N	N	-	7	130034437	130034437	C	G	snp	UTR3	*4295G>C	 	 	 	CEP41	Cep41	ENSG00000106477	centrosomal protein 41	chr7:130033612-130082274	This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]	Joubert syndrome 15	Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0018095;protein polyglutamylation;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP41	https://www.uniprot.org/uniprot/Q9BYV8	https://hpo.jax.org/app/browse/search?q=CEP41&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610523	http://www.informatics.jax.org/searchtool/Search.do?query=CEP41&submit=Quick%0D%3505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP41	rs4728195	0.349441	0	0.3395	1	0	0	UTR3	UTR3	UTR3	CEP41(NM_018718:c.*4295G>C,NM_001257159:c.*4295G>C,NM_001257158:c.*4295G>C)	CEP41(uc003vpy.4:c.*4295G>C,uc003vpz.4:c.*4295G>C,uc010lmf.4:c.*4295G>C,uc003vqa.4:c.*4295G>C,uc011kpg.3:c.*4295G>C)	ENSG00000106477(ENST00000223208:c.*4295G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	1347;75|57	Hom;C>G	4026;0|136
N	N	-	7	130035205	130035205	G	GA	indel	UTR3	*3527C>TC	 	 	 	CEP41	Cep41	ENSG00000106477	centrosomal protein 41	chr7:130033612-130082274	This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]	Joubert syndrome 15	Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0018095;protein polyglutamylation;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP41	https://www.uniprot.org/uniprot/Q9BYV8	https://hpo.jax.org/app/browse/search?q=CEP41&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610523	http://www.informatics.jax.org/searchtool/Search.do?query=CEP41&submit=Quick%0D%3505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP41	rs367659156	0.363019	0	0.3439	1	0	0	UTR3	UTR3	UTR3	CEP41(NM_018718:c.*3527C>TC,NM_001257159:c.*3527C>TC,NM_001257158:c.*3527C>TC)	CEP41(uc003vpy.4:c.*3527C>TC,uc003vpz.4:c.*3527C>TC,uc010lmf.4:c.*3527C>TC,uc003vqa.4:c.*3527C>TC,uc011kpg.3:c.*3527C>TC)	ENSG00000106477(ENST00000223208:c.*3527C>TC)	Na	Na	Na	Na	Na	Na	Het;+A	1509;62|68	Hom;+A	2951;2|113
N	N	-	7	130036691	130036691	C	T	snp	UTR3	*2041G>A	 	 	 	CEP41	Cep41	ENSG00000106477	centrosomal protein 41	chr7:130033612-130082274	This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]	Joubert syndrome 15	Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0018095;protein polyglutamylation;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP41	https://www.uniprot.org/uniprot/Q9BYV8	https://hpo.jax.org/app/browse/search?q=CEP41&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610523	http://www.informatics.jax.org/searchtool/Search.do?query=CEP41&submit=Quick%0D%3505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP41	rs73152868	0.15615	0	0.2202	1	0	0	UTR3	UTR3	UTR3	CEP41(NM_018718:c.*2041G>A,NM_001257159:c.*2041G>A,NM_001257158:c.*2041G>A)	CEP41(uc003vpy.4:c.*2041G>A,uc003vpz.4:c.*2041G>A,uc010lmf.4:c.*2041G>A,uc003vqa.4:c.*2041G>A,uc011kpg.3:c.*2041G>A)	ENSG00000106477(ENST00000223208:c.*2041G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1652;112|82	Hom;C>T	4077;2|150
N	N	-	7	130036801	130036801	G	A	snp	UTR3	*1931C>T	 	 	 	CEP41	Cep41	ENSG00000106477	centrosomal protein 41	chr7:130033612-130082274	This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]	Joubert syndrome 15	Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0018095;protein polyglutamylation;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP41	https://www.uniprot.org/uniprot/Q9BYV8	https://hpo.jax.org/app/browse/search?q=CEP41&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610523	http://www.informatics.jax.org/searchtool/Search.do?query=CEP41&submit=Quick%0D%3505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP41	rs17133175	0.140775	0	0.1930	1	0	0	UTR3	UTR3	UTR3	CEP41(NM_018718:c.*1931C>T,NM_001257159:c.*1931C>T,NM_001257158:c.*1931C>T)	CEP41(uc003vpy.4:c.*1931C>T,uc003vpz.4:c.*1931C>T,uc010lmf.4:c.*1931C>T,uc003vqa.4:c.*1931C>T,uc011kpg.3:c.*1931C>T)	ENSG00000106477(ENST00000223208:c.*1931C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1759;127|90	Hom;G>A	5287;1|194
N	N	-	7	130036873	130036873	C	A	snp	UTR3	*1859G>T	 	 	 	CEP41	Cep41	ENSG00000106477	centrosomal protein 41	chr7:130033612-130082274	This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]	Joubert syndrome 15	Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0018095;protein polyglutamylation;ISS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP41	https://www.uniprot.org/uniprot/Q9BYV8	https://hpo.jax.org/app/browse/search?q=CEP41&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610523	http://www.informatics.jax.org/searchtool/Search.do?query=CEP41&submit=Quick%0D%3505ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP41	rs73152869	0.147564	0	0.1915	1	0	0	UTR3	UTR3	UTR3	CEP41(NM_018718:c.*1859G>T,NM_001257159:c.*1859G>T,NM_001257158:c.*1859G>T)	CEP41(uc003vpy.4:c.*1859G>T,uc003vpz.4:c.*1859G>T,uc010lmf.4:c.*1859G>T,uc003vqa.4:c.*1859G>T,uc011kpg.3:c.*1859G>T)	ENSG00000106477(ENST00000223208:c.*1859G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	964;97|49	Hom;C>A	3966;0|143
N	N	-	7	130598236	130598236	G	T	snp	ncRNA_exonic	 	 	 	 	LOC100506860																		rs205764	0.655351	0	0	1	0	0	ncRNA_exonic	upstream	ncRNA_intronic	LOC100506860	LOC646329	ENSG00000233559	Na	Na	Na	Na	Na	Na	Het;G>T	758;54|36	Hom;G>T	2517;0|90
N	N	-	7	131817726	131817726	T	G	snp	intronic	 	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs6467422	0.122005	0	0	1	0	0	intronic	intronic	intronic	PLXNA4	PLXNA4	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;T>G	751;13|19	Hom;T>G	1360;1|32
N	N	-	7	131817735	131817735	C	T	snp	intronic	 	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs6467423	0.17472	0	0	1	0	0	intronic	intronic	intronic	PLXNA4	PLXNA4	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;C>T	849;16|25	Hom;C>T	1566;2|39
N	N	-	7	131830080	131830080	G	A	snp	UTR5	-123C>T	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs2671100	0.285743	0.2972	0.1294	1	0	0	intronic	UTR5	intronic	PLXNA4	PLXNA4(uc003vqz.4:c.-123C>T)	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;G>A	1993;54|54	Hom;G>A	4010;0|93
N	N	-	7	131830086	131830086	C	T	snp	UTR5	-129G>A	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs2598198	0.285743	0.2971	0.1294	1	0	0	intronic	UTR5	intronic	PLXNA4	PLXNA4(uc003vqz.4:c.-129G>A)	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;C>T	1876;49|49	Hom;C>T	3811;0|85
N	N	-	7	131831552	131831552	C	T	snp	intronic	 	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs2671112	0.282548	0	0	1	0	0	intronic	intronic	intronic	PLXNA4	PLXNA4	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;C>T	64;5|4	Hom;C>T	92;0|4
N	N	-	7	131833425	131833425	G	A	snp	intronic	 	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs10256987	0.121406	0.1293	0.0698	1	0	0	intronic	intronic	intronic	PLXNA4	PLXNA4	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;G>A	937;28|25	Hom;G>A	3083;0|71
N	N	-	7	131833427	131833427	T	C	snp	intronic	 	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs2671108	0.285343	0.2789	0.1272	1	0	0	intronic	intronic	intronic	PLXNA4	PLXNA4	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;T>C	937;26|25	Hom;T>C	3083;0|68
N	N	-	7	131833465	131833465	A	T	snp	intronic	 	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs2598199	0.285343	0	0	1	0	0	intronic	intronic	intronic	PLXNA4	PLXNA4	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;A>T	323;21|16	Hom;A>T	1410;0|54
N	N	-	7	132243507	132243507	C	T	snp	intronic	 	 	 	 	PLXNA4	Plxna4	ENSG00000221866	plexin A4	chr7:131808091-132333447		Blood Pressure; Carotid Artery Diseases; Asthma; Echocardiography; Monocyte Chemoattractant Protein-1; Blood Pressure Determination; Lipids; Tobacco Use Disorder; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.	Other semaphorin interactions	GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0021602;cranial nerve morphogenesis;IEA|GO:0021610;facial nerve morphogenesis;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021644;vagus nerve morphogenesis;IEA|GO:0021784;postganglionic parasympathetic fiber development;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021793;chemorepulsion of branchiomotor axon;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0048485;sympathetic nervous system development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0050923;regulation of negative chemotaxis;IEA|GO:0071526;semaphorin-plexin signaling pathway;NAS|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNA4			https://www.ncbi.nlm.nih.gov/omim/?term=604280	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA4&submit=Quick%0D%18411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA4	rs11974790	0.419129	0	0	1	0	0	intronic	intronic	intronic	PLXNA4	PLXNA4	ENSG00000221866	Na	Na	Na	Na	Na	Na	Het;C>T	605;38|34	Hom;C>T	933;0|35
N	N	-	7	133506955	133506955	G	A	snp	ncRNA_exonic	 	 	 	 	LOC101928861																		rs13243553	0.471046	0	0	1	0	0	ncRNA_exonic	intronic	intronic	LOC101928861	EXOC4	ENSG00000131558	Na	Na	Na	Na	Na	Na	Het;G>A	580;44|28	Hom;G>A	1794;0|67
N	N	-	7	133580447	133580447	G	A	snp	synonymous SNV	G1830A	V610V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EXOC4	Exoc4	ENSG00000131558	exocyst complex component 4	chr7:132937829-133751342	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]	rheumatoid arthritis; tonometry; Amyotrophic Lateral Sclerosis|; diabetes, type 2; Body Weights and Measures; Rheumatoid arthritis; Body Weight; Neuropsychological Tests; Blood Pressure	Mice homozygous for disruptions in this gene display embryonic abnormatlities.  Gastrulation is not completed and mesoderm formation is abnormal.  Death occurs before E10.5.	VxPx cargo-targeting to cilium	GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IBA|GO:0006903;vesicle targeting;IBA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0015031;protein transport;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0048341;paraxial mesoderm formation;IEA	GO:0000145;exocyst;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IDA|GO:0032584;growth cone membrane;IBA|GO:0035748;myelin sheath abaxonal region;IEA|GO:0045202;synapse;IBA	GO:0005515;protein binding;IPI|GO:0017160;Ral GTPase binding;IPI|GO:0030165;PDZ domain binding;IEA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC4	https://www.uniprot.org/uniprot/Q96A65		https://www.ncbi.nlm.nih.gov/omim/?term=608185	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC4&submit=Quick%0D%6559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC4	rs2042456	0.538139	0.4820	0.4422	1	0	0	exonic	exonic	exonic	EXOC4	EXOC4	ENSG00000131558	synonymous SNV	synonymous SNV	unknown	EXOC4:NM_021807:exon12:c.G1830A:p.V610V,	EXOC4:uc003vrk.3:exon12:c.G1830A:p.V610V,EXOC4:uc011kpp.2:exon4:c.G426A:p.V142V,EXOC4:uc003vrl.3:exon4:c.G660A:p.V220V,EXOC4:uc011kpo.2:exon12:c.G1527A:p.V509V,	UNKNOWN	Het;G>A	1551;91|80	Hom;G>A	5188;0|193
N	N	-	7	133580545	133580545	A	G	snp	intronic	 	 	 	 	EXOC4	Exoc4	ENSG00000131558	exocyst complex component 4	chr7:132937829-133751342	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]	rheumatoid arthritis; tonometry; Amyotrophic Lateral Sclerosis|; diabetes, type 2; Body Weights and Measures; Rheumatoid arthritis; Body Weight; Neuropsychological Tests; Blood Pressure	Mice homozygous for disruptions in this gene display embryonic abnormatlities.  Gastrulation is not completed and mesoderm formation is abnormal.  Death occurs before E10.5.	VxPx cargo-targeting to cilium	GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IBA|GO:0006903;vesicle targeting;IBA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0015031;protein transport;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0048341;paraxial mesoderm formation;IEA	GO:0000145;exocyst;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IDA|GO:0032584;growth cone membrane;IBA|GO:0035748;myelin sheath abaxonal region;IEA|GO:0045202;synapse;IBA	GO:0005515;protein binding;IPI|GO:0017160;Ral GTPase binding;IPI|GO:0030165;PDZ domain binding;IEA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC4	https://www.uniprot.org/uniprot/Q96A65		https://www.ncbi.nlm.nih.gov/omim/?term=608185	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC4&submit=Quick%0D%6559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC4	rs2042455	0.538339	0	0	1	0	0	intronic	intronic	intronic	EXOC4	EXOC4	ENSG00000131558	Na	Na	Na	Na	Na	Na	Het;A>G	927;38|37	Hom;A>G	3015;0|108
N	N	-	7	134673958	134673958	T	C	snp	intronic	 	 	 	 	AGBL3	Agbl3	ENSG00000146856	ATP/GTP binding protein like 3	chr7:134671259-134832715		Attention Deficit Disorder with Hyperactivity; Varicose Veins; Tobacco Use Disorder	Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection.	Carboxyterminal post-translational modifications of tubulin	GO:0006508;proteolysis;IEA|GO:0035610;protein side chain deglutamylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGBL3	https://www.uniprot.org/uniprot/Q8NEM8		https://www.ncbi.nlm.nih.gov/omim/?term=617346	http://www.informatics.jax.org/searchtool/Search.do?query=AGBL3&submit=Quick%0D%8923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL3	rs12671813	0.372804	0.4159	0.4254	1	0	0	intronic	intronic	intronic	AGBL3	AGBL3	ENSG00000146856	Na	Na	Na	Na	Na	Na	Het;T>C	488;16|22	Hom;T>C	1439;2|55
N	N	-	7	134678253	134678253	T	A	snp	nonsynonymous SNV	T134A	F45Y	aromatic,hydrophobic,neutral	aromatic,polar,hydrophobic	AGBL3	Agbl3	ENSG00000146856	ATP/GTP binding protein like 3	chr7:134671259-134832715		Attention Deficit Disorder with Hyperactivity; Varicose Veins; Tobacco Use Disorder	Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection.	Carboxyterminal post-translational modifications of tubulin	GO:0006508;proteolysis;IEA|GO:0035610;protein side chain deglutamylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGBL3	https://www.uniprot.org/uniprot/Q8NEM8		https://www.ncbi.nlm.nih.gov/omim/?term=617346	http://www.informatics.jax.org/searchtool/Search.do?query=AGBL3&submit=Quick%0D%8923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL3	rs2348049	0.229233	0	0.2757	0.08	1	13	exonic	exonic	exonic	AGBL3	AGBL3	ENSG00000146856	nonsynonymous SNV	nonsynonymous SNV	unknown	AGBL3:NM_178563:exon4:c.T134A:p.F45Y,	AGBL3:uc011kpw.2:exon4:c.T134A:p.F45Y,	UNKNOWN	Het;T>A	1017;59|50	Hom;T>A	2514;0|94
N	N	-	7	13478520	13478520	G	A	snp	ncRNA_intronic	 	 	 	 	AC011287.1																		rs10950457	0.473243	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ARL4A(dist=747962),ETV1(dist=452336)	ARL4A(dist=747962),AK055368(dist=452333)	ENSG00000229618	Na	Na	Na	Na	Na	Na	Het;G>A	490;37|25	Hom;G>A	1469;0|55
N	N	-	7	13478678	13478678	T	C	snp	ncRNA_intronic	 	 	 	 	AC011287.1																		rs10807764	0.208466	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ARL4A(dist=748120),ETV1(dist=452178)	ARL4A(dist=748120),AK055368(dist=452175)	ENSG00000229618	Na	Na	Na	Na	Na	Na	Het;T>C	105;5|4	Hom;T>C	227;0|6
N	N	-	7	134820254	134820254	T	TA	indel	UTR3	*241T>TA	 	 	 	AGBL3	Agbl3	ENSG00000146856	ATP/GTP binding protein like 3	chr7:134671259-134832715		Attention Deficit Disorder with Hyperactivity; Varicose Veins; Tobacco Use Disorder	Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection.	Carboxyterminal post-translational modifications of tubulin	GO:0006508;proteolysis;IEA|GO:0035610;protein side chain deglutamylation;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGBL3	https://www.uniprot.org/uniprot/Q8NEM8		https://www.ncbi.nlm.nih.gov/omim/?term=617346	http://www.informatics.jax.org/searchtool/Search.do?query=AGBL3&submit=Quick%0D%8923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL3	rs397720823	0.454872	0	0	1	0	0	UTR3	ncRNA_intronic	UTR3	AGBL3(NM_178563:c.*241T>TA)	LOC653739	ENSG00000146856(ENST00000458078:c.*241T>TA,ENST00000436302:c.*241T>TA)	Na	Na	Na	Na	Na	Na	Het;+A	1180;32|39	Hom;+A	2139;0|60
N	N	-	7	134878237	134878237	G	C	snp	intronic	 	 	 	 	WDR91	Wdr91	ENSG00000105875	WD repeat domain 91	chr7:134868590-134896316			Mice homozygous for a null alle exhibit neonatal lethality associated with intraabdominal bleeding. Mice homozygous for a conditional allele activated in neurons exhibit premature death, decreased brain size and weight, neuron apoptosis and reduced complexity and length of neurites.					http://www.genecards.org/index.php?path=/Search/keyword/WDR91	https://www.uniprot.org/uniprot/A4D1P6		https://www.ncbi.nlm.nih.gov/omim/?term=616303	http://www.informatics.jax.org/searchtool/Search.do?query=WDR91&submit=Quick%0D%3406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR91	rs2278128	0.228235	0	0	1	0	0	intronic	intronic	intronic	WDR91	WDR91	ENSG00000105875	Na	Na	Na	Na	Na	Na	Het;G>C	582;22|22	Hom;G>C	1098;0|35
N	N	-	7	134882995	134882995	G	A	snp	intronic	 	 	 	 	WDR91	Wdr91	ENSG00000105875	WD repeat domain 91	chr7:134868590-134896316			Mice homozygous for a null alle exhibit neonatal lethality associated with intraabdominal bleeding. Mice homozygous for a conditional allele activated in neurons exhibit premature death, decreased brain size and weight, neuron apoptosis and reduced complexity and length of neurites.					http://www.genecards.org/index.php?path=/Search/keyword/WDR91	https://www.uniprot.org/uniprot/A4D1P6		https://www.ncbi.nlm.nih.gov/omim/?term=616303	http://www.informatics.jax.org/searchtool/Search.do?query=WDR91&submit=Quick%0D%3406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR91	rs2278129	0.201078	0	0	1	0	0	intronic	intronic	intronic	WDR91	WDR91	ENSG00000105875	Na	Na	Na	Na	Na	Na	Het;G>A	242;8|11	Hom;G>A	585;0|24
N	N	-	7	134891961	134891961	G	A	snp	intronic	 	 	 	 	WDR91	Wdr91	ENSG00000105875	WD repeat domain 91	chr7:134868590-134896316			Mice homozygous for a null alle exhibit neonatal lethality associated with intraabdominal bleeding. Mice homozygous for a conditional allele activated in neurons exhibit premature death, decreased brain size and weight, neuron apoptosis and reduced complexity and length of neurites.					http://www.genecards.org/index.php?path=/Search/keyword/WDR91	https://www.uniprot.org/uniprot/A4D1P6		https://www.ncbi.nlm.nih.gov/omim/?term=616303	http://www.informatics.jax.org/searchtool/Search.do?query=WDR91&submit=Quick%0D%3406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR91	rs2278130	0.229034	0.2786	0.2390	1	0	0	intronic	intronic	intronic	WDR91	WDR91	ENSG00000105875	Na	Na	Na	Na	Na	Na	Het;G>A	925;23|45	Hom;G>A	1847;0|71
N	N	-	7	134925241	134925241	C	CA	indel	intronic	 	 	 	 	STRA8	Stra8	ENSG00000146857	stimulated by retinoic acid 8	chr7:134916731-134943244	This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010]	Azoospermia|Oligospermia	Homozygous null mice display impaired meiosis.		GO:0001541;ovarian follicle development;IEA|GO:0006260;DNA replication;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007066;female meiosis sister chromatid cohesion;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;IEA|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;IEA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030154;cell differentiation;IEA|GO:0033315;meiotic DNA replication checkpoint;IEA|GO:0042138;meiotic DNA double-strand break formation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046620;regulation of organ growth;IEA|GO:0048133;male germ-line stem cell asymmetric division;IEA|GO:0048477;oogenesis;IEA|GO:0048599;oocyte development;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006260;DNA replication;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007066;female meiosis sister chromatid cohesion;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;IEA|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;IEA|GO:0010032;meiotic chromosome condensation;IEA|GO:0030154;cell differentiation;IEA|GO:0033315;meiotic DNA replication checkpoint;IEA|GO:0042138;meiotic DNA double-strand break formation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046620;regulation of organ growth;IEA|GO:0048133;male germ-line stem cell asymmetric division;IEA|GO:0048477;oogenesis;IEA|GO:0048599;oocyte development;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STRA8	https://www.uniprot.org/uniprot/Q7Z7C7		https://www.ncbi.nlm.nih.gov/omim/?term=609987	http://www.informatics.jax.org/searchtool/Search.do?query=STRA8&submit=Quick%0D%178ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STRA8	rs34330846	0.337061	0.3538	0.4136	1	0	0	intronic	intronic	intronic	STRA8	STRA8	ENSG00000146857	Na	Na	Na	Na	Na	Na	Het;+A	878;6|40	Hom;+A	1018;5|45
N	N	-	7	135048033	135048033	G	C	snp	intronic	 	 	 	 	CNOT4	Cnot4	ENSG00000080802	CCR4-NOT transcription complex subunit 4	chr7:135046547-135194875	The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]	Tobacco Use Disorder	 	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain	GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0016567;protein ubiquitination;IEA|GO:0051865;protein autoubiquitination;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030014;CCR4-NOT complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNOT4	https://www.uniprot.org/uniprot/O95628		https://www.ncbi.nlm.nih.gov/omim/?term=604911	http://www.informatics.jax.org/searchtool/Search.do?query=CNOT4&submit=Quick%0D%1741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT4	rs2059367	0.632987	0	0	1	0	0	intronic	intronic	intronic	CNOT4	CNOT4	ENSG00000080802	Na	Na	Na	Na	Na	Na	Het;G>C	157;4|5	Hom;G>C	445;0|12
N	N	-	7	135406176	135406176	A	G	snp	synonymous SNV	T195C	L65L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC13A4	Slc13a4	ENSG00000164707	solute carrier family 13 member 4	chr7:135365985-135414006		Tobacco Use Disorder	Mice homozygous for a null allele display lethality before birth, impaired placental sulfate transport, failure of bone ossification, impaired vascular development, hemorrhaging, and cleft palate.	Sodium-coupled sulphate, di- and tri-carboxylate transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008272;sulfate transport;TAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IBA|GO:0015293;symporter activity;IEA|GO:0015382;sodium:sulfate symporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC13A4			https://www.ncbi.nlm.nih.gov/omim/?term=604309	http://www.informatics.jax.org/searchtool/Search.do?query=SLC13A4&submit=Quick%0D%11369ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC13A4	rs4596594	0.45028	0.4782	0.4422	1	0	0	exonic	exonic	exonic	SLC13A4	SLC13A4	ENSG00000164707	synonymous SNV	synonymous SNV	unknown	SLC13A4:NM_012450:exon2:c.T195C:p.L65L,	SLC13A4:uc003vtb.3:exon2:c.T195C:p.L65L,SLC13A4:uc003vta.3:exon2:c.T195C:p.L65L,	UNKNOWN	Het;A>G	1980;86|92	Hom;A>G	3448;0|125
N	N	-	7	135531524	135531524	T	C	snp	intergenic	 	 	 	 	ENSG00000222219																		rs2348914	0.796725	0	0	1	0	0	intergenic	intergenic	intergenic	FAM180A(dist=97930),LUZP6(dist=79979)	FAM180A(dist=97930),LUZP6(dist=79979)	ENSG00000222219(dist=48667),ENSG00000224746(dist=79679)	Na	Na	Na	Na	Na	Na	Het;T>C	41;2|2	Hom;T>C	133;0|4
N	N	-	7	137590369	137590369	G	A	snp	intronic	 	 	 	 	CREB3L2	Creb3l2	ENSG00000182158	cAMP responsive element binding protein 3 like 2	chr7:137559725-137686813	This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Tobacco Use Disorder; Stroke; bronchodilator response	Mice homozygous for a knock-out allele exhibit severe chondrodysplasia and die shortly after first birth from suffocation.	CREB3 factors activate genes	GO:0002062;chondrocyte differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0006986;response to unfolded protein;IEA|GO:0007275;multicellular organism development;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0034976;response to endoplasmic reticulum stress;IEP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051216;cartilage development;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0035497;cAMP response element binding;IMP|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CREB3L2			https://www.ncbi.nlm.nih.gov/omim/?term=608834	http://www.informatics.jax.org/searchtool/Search.do?query=CREB3L2&submit=Quick%0D%14730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREB3L2	rs273968	0.765375	0	0	1	0	0	intronic	intronic	intronic	CREB3L2	CREB3L2	ENSG00000182158	Na	Na	Na	Na	Na	Na	Het;G>A	233;4|9	Hom;G>A	453;0|16
N	N	-	7	137600690	137600690	C	T	snp	nonsynonymous SNV	G388A	V130I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CREB3L2	Creb3l2	ENSG00000182158	cAMP responsive element binding protein 3 like 2	chr7:137559725-137686813	This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Tobacco Use Disorder; Stroke; bronchodilator response	Mice homozygous for a knock-out allele exhibit severe chondrodysplasia and die shortly after first birth from suffocation.	CREB3 factors activate genes	GO:0002062;chondrocyte differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0006986;response to unfolded protein;IEA|GO:0007275;multicellular organism development;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0034976;response to endoplasmic reticulum stress;IEP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051216;cartilage development;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0035497;cAMP response element binding;IMP|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CREB3L2			https://www.ncbi.nlm.nih.gov/omim/?term=608834	http://www.informatics.jax.org/searchtool/Search.do?query=CREB3L2&submit=Quick%0D%14730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREB3L2	rs273957	0.804313	0.7151	0.6893	0.15	2	13	exonic	exonic	exonic	CREB3L2	CREB3L2	ENSG00000182158	nonsynonymous SNV	nonsynonymous SNV	unknown	CREB3L2:NM_001253775:exon3:c.G388A:p.V130I,CREB3L2:NM_194071:exon3:c.G388A:p.V130I,	CREB3L2:uc003vtw.3:exon3:c.G388A:p.V130I,CREB3L2:uc003vty.4:exon3:c.G388A:p.V130I,CREB3L2:uc003vtx.2:exon3:c.G388A:p.V130I,CREB3L2:uc031szf.1:exon4:c.G199A:p.V67I,CREB3L2:uc003vtv.3:exon3:c.G199A:p.V67I,	UNKNOWN	Het;C>T	2173;90|105	Hom;C>T	4244;0|158
N	N	-	7	138089192	138089192	T	G	snp	ncRNA_exonic	 	 	 	 	AC008155.1																		rs10245726	0.35004	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR4468(dist=280625),TRIM24(dist=55887)	JB175279(dist=1328),DQ573766(dist=36355)	ENSG00000213237	Na	Na	Na	Na	Na	Na	Het;T>G	118;2|6	Hom;T>G	375;0|16
N	N	-	7	138200117	138200117	A	T	snp	intronic	 	 	 	 	TRIM24	Trim24	ENSG00000122779	tripartite motif containing 24	chr7:138145079-138274738	The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Body Weight; quantitative traits	Mice homozygous for a knock-out allele exhibit increased hepatocyte ploidy and uncontrolled hepatocellular proliferation; most adult mice develop malignant hepatocellular carcinomas.	Signaling by BRAF and RAF fusions	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006468;protein phosphorylation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030163;protein catabolic process;IMP|GO:0031647;regulation of protein stability;IMP|GO:0042981;regulation of apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0055074;calcium ion homeostasis;IEA|GO:0070562;regulation of vitamin D receptor signaling pathway;IEA|GO:0071391;cellular response to estrogen stimulus;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005719;nuclear euchromatin;IEA|GO:0005726;perichromatin fibrils;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003713;transcription coactivator activity;TAS|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0034056;estrogen response element binding;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM24	https://www.uniprot.org/uniprot/O15164		https://www.ncbi.nlm.nih.gov/omim/?term=603406	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM24&submit=Quick%0D%5454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM24	rs3757381	0.71905	0.8246	0.7660	1	0	0	intronic	intronic	intronic	TRIM24	TRIM24	ENSG00000122779	Na	Na	Na	Na	Na	Na	Het;A>T	662;31|33	Hom;A>T	2666;0|92
N	N	-	7	138235643	138235643	G	C	snp	intronic	 	 	 	 	TRIM24	Trim24	ENSG00000122779	tripartite motif containing 24	chr7:138145079-138274738	The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Body Weight; quantitative traits	Mice homozygous for a knock-out allele exhibit increased hepatocyte ploidy and uncontrolled hepatocellular proliferation; most adult mice develop malignant hepatocellular carcinomas.	Signaling by BRAF and RAF fusions	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006468;protein phosphorylation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016567;protein ubiquitination;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030163;protein catabolic process;IMP|GO:0031647;regulation of protein stability;IMP|GO:0042981;regulation of apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046777;protein autophosphorylation;IEA|GO:0055074;calcium ion homeostasis;IEA|GO:0070562;regulation of vitamin D receptor signaling pathway;IEA|GO:0071391;cellular response to estrogen stimulus;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005719;nuclear euchromatin;IEA|GO:0005726;perichromatin fibrils;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003713;transcription coactivator activity;TAS|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0034056;estrogen response element binding;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM24	https://www.uniprot.org/uniprot/O15164		https://www.ncbi.nlm.nih.gov/omim/?term=603406	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM24&submit=Quick%0D%5454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM24	rs1363053	0.773163	0	0	1	0	0	intronic	intronic	intronic	TRIM24	TRIM24	ENSG00000122779	Na	Na	Na	Na	Na	Na	Het;G>C	36;3|2	Hom;G>C	171;0|5
N	N	-	7	138413753	138413753	G	A	snp	intronic	 	 	 	 	ATP6V0A4	Atp6v0a4	ENSG00000105929	ATPase H+ transporting V0 subunit a4	chr7:138391040-138484305	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]	Macular Degeneration; Anemia, Sickle Cell; Tobacco Use Disorder; Fibrinogen; Diabetes Mellitus	Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction.	Ion channel transport	GO:0001503;ossification;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006885;regulation of pH;IMP|GO:0007035;vacuolar acidification;IBA|GO:0007588;excretion;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IMP|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS	GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;ISS|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IDA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031526;brush border membrane;IDA|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A4	https://www.uniprot.org/uniprot/Q9HBG4	https://hpo.jax.org/app/browse/search?q=ATP6V0A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605239	http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A4&submit=Quick%0D%3415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A4	rs3734941	0.767772	0	0	1	0	0	intronic	intronic	intronic	ATP6V0A4	ATP6V0A4	ENSG00000105929	Na	Na	Na	Na	Na	Na	Het;G>A	97;5|5	Hom;G>A	106;0|5
N	N	-	7	138446998	138446998	A	G	snp	intronic	 	 	 	 	ATP6V0A4	Atp6v0a4	ENSG00000105929	ATPase H+ transporting V0 subunit a4	chr7:138391040-138484305	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]	Macular Degeneration; Anemia, Sickle Cell; Tobacco Use Disorder; Fibrinogen; Diabetes Mellitus	Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction.	Ion channel transport	GO:0001503;ossification;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006885;regulation of pH;IMP|GO:0007035;vacuolar acidification;IBA|GO:0007588;excretion;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IMP|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS	GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;ISS|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IDA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031526;brush border membrane;IDA|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A4	https://www.uniprot.org/uniprot/Q9HBG4	https://hpo.jax.org/app/browse/search?q=ATP6V0A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605239	http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A4&submit=Quick%0D%3415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A4	rs3823499	0.154153	0	0	1	0	0	intronic	intronic	intronic	ATP6V0A4	ATP6V0A4	ENSG00000105929	Na	Na	Na	Na	Na	Na	Het;A>G	299;9|11	Hom;A>G	605;0|16
N	N	-	7	138453439	138453439	A	T	snp	intronic	 	 	 	 	ATP6V0A4	Atp6v0a4	ENSG00000105929	ATPase H+ transporting V0 subunit a4	chr7:138391040-138484305	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]	Macular Degeneration; Anemia, Sickle Cell; Tobacco Use Disorder; Fibrinogen; Diabetes Mellitus	Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction.	Ion channel transport	GO:0001503;ossification;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006885;regulation of pH;IMP|GO:0007035;vacuolar acidification;IBA|GO:0007588;excretion;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IMP|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS	GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;ISS|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IDA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031526;brush border membrane;IDA|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A4	https://www.uniprot.org/uniprot/Q9HBG4	https://hpo.jax.org/app/browse/search?q=ATP6V0A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605239	http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A4&submit=Quick%0D%3415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A4	rs62486966	0.153355	0	0	1	0	0	intronic	intronic	intronic	ATP6V0A4	ATP6V0A4	ENSG00000105929	Na	Na	Na	Na	Na	Na	Het;A>T	32;11|3	Hom;A>T	665;0|24
N	N	-	7	138455988	138455988	A	G	snp	nonsynonymous SNV	T5C	V2A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ATP6V0A4	Atp6v0a4	ENSG00000105929	ATPase H+ transporting V0 subunit a4	chr7:138391040-138484305	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]	Macular Degeneration; Anemia, Sickle Cell; Tobacco Use Disorder; Fibrinogen; Diabetes Mellitus	Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction.	Ion channel transport	GO:0001503;ossification;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006885;regulation of pH;IMP|GO:0007035;vacuolar acidification;IBA|GO:0007588;excretion;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IMP|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS	GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;ISS|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IDA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031526;brush border membrane;IDA|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A4	https://www.uniprot.org/uniprot/Q9HBG4	https://hpo.jax.org/app/browse/search?q=ATP6V0A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605239	http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A4&submit=Quick%0D%3415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A4	rs10258719	0.679513	0.7322	0.7040	0.15	2	13	exonic	exonic	exonic	ATP6V0A4	ATP6V0A4	ENSG00000105929	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP6V0A4:NM_130840:exon2:c.T5C:p.V2A,ATP6V0A4:NM_130841:exon2:c.T5C:p.V2A,ATP6V0A4:NM_020632:exon3:c.T5C:p.V2A,	ATP6V0A4:uc003vuf.3:exon2:c.T5C:p.V2A,ATP6V0A4:uc003vuh.3:exon2:c.T5C:p.V2A,ATP6V0A4:uc003vug.3:exon3:c.T5C:p.V2A,	UNKNOWN	Het;A>G	483;32|23	Hom;A>G	1308;0|43
N	N	-	7	13878411	13878411	C	G	snp	intergenic	 	 	 	 	AC011287.1																		rs10233608	0.829273	0	0	1	0	0	intergenic	intergenic	intergenic	ARL4A(dist=1147853),ETV1(dist=52445)	ARL4A(dist=1147853),AK055368(dist=52442)	ENSG00000229618(dist=134637),ENSG00000224330(dist=15569)	Na	Na	Na	Na	Na	Na	Het;C>G	640;13|22	Hom;C>G	756;0|25
N	N	-	7	13878650	13878650	C	G	snp	intergenic	 	 	 	 	AC011287.1																		rs9986740	0.514976	0	0	1	0	0	intergenic	intergenic	intergenic	ARL4A(dist=1148092),ETV1(dist=52206)	ARL4A(dist=1148092),AK055368(dist=52203)	ENSG00000229618(dist=134876),ENSG00000224330(dist=15330)	Na	Na	Na	Na	Na	Na	Het;C>G	182;4|6	Hom;C>G	425;0|12
N	N	-	7	140048690	140048690	G	A	snp	intronic	 	 	 	 	SLC37A3	Slc37a3	ENSG00000157800	solute carrier family 37 member 3	chr7:139993493-140104233		Alcoholism	 		GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC37A3				http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A3&submit=Quick%0D%10132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A3	rs60025250	0.291534	0	0	1	0	0	intronic	intronic	intronic	SLC37A3	SLC37A3	ENSG00000157800	Na	Na	Na	Na	Na	Na	Het;G>A	105;2|5	Hom;G>A	93;0|4
N	N	-	7	140218464	140218464	C	A	snp	UTR3	*43G>T	 	 	 	DENND2A	Dennd2a	ENSG00000146966	DENN domain containing 2A	chr7:140218220-140373793		Tobacco Use Disorder; Eye	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND2A	https://www.uniprot.org/uniprot/Q9ULE3			http://www.informatics.jax.org/searchtool/Search.do?query=DENND2A&submit=Quick%0D%8936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND2A	rs6852	0.486422	0.4321	0.5148	1	0	0	UTR3	UTR3	UTR3	DENND2A(NM_015689:c.*43G>T)	DENND2A(uc010lnj.3:c.*43G>T,uc010lnk.3:c.*43G>T,uc003vvw.3:c.*43G>T)	ENSG00000146966(ENST00000275884:c.*43G>T,ENST00000537639:c.*43G>T,ENST00000461883:c.*420G>T,ENST00000496613:c.*43G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1900;72|82	Hom;C>A	3592;0|129
N	N	-	7	140246894	140246894	A	G	snp	intronic	 	 	 	 	DENND2A	Dennd2a	ENSG00000146966	DENN domain containing 2A	chr7:140218220-140373793		Tobacco Use Disorder; Eye	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND2A	https://www.uniprot.org/uniprot/Q9ULE3			http://www.informatics.jax.org/searchtool/Search.do?query=DENND2A&submit=Quick%0D%8936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND2A	rs1879901	0.743411	0	0	1	0	0	intronic	intronic	intronic	DENND2A	DENND2A	ENSG00000146966	Na	Na	Na	Na	Na	Na	Het;A>G	247;11|10	Hom;A>G	603;0|19
N	N	-	7	140257907	140257907	C	T	snp	intronic	 	 	 	 	DENND2A	Dennd2a	ENSG00000146966	DENN domain containing 2A	chr7:140218220-140373793		Tobacco Use Disorder; Eye	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND2A	https://www.uniprot.org/uniprot/Q9ULE3			http://www.informatics.jax.org/searchtool/Search.do?query=DENND2A&submit=Quick%0D%8936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND2A	rs12704002	0.550319	0.5024	0.5794	1	0	0	intronic	intronic	intronic	DENND2A	DENND2A	ENSG00000146966	Na	Na	Na	Na	Na	Na	Het;C>T	82;10|5	Hom;C>T	458;0|18
N	N	-	7	140258000	140258000	T	C	snp	synonymous SNV	A1902G	S634S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DENND2A	Dennd2a	ENSG00000146966	DENN domain containing 2A	chr7:140218220-140373793		Tobacco Use Disorder; Eye	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND2A	https://www.uniprot.org/uniprot/Q9ULE3			http://www.informatics.jax.org/searchtool/Search.do?query=DENND2A&submit=Quick%0D%8936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND2A	rs12704003	0.560104	0.5209	0.5799	1	0	0	exonic	exonic	exonic	DENND2A	DENND2A	ENSG00000146966	synonymous SNV	synonymous SNV	unknown	DENND2A:NM_015689:exon9:c.A1902G:p.S634S,	DENND2A:uc003vvx.3:exon11:c.A1902G:p.S634S,DENND2A:uc010lnj.3:exon9:c.A1902G:p.S634S,DENND2A:uc010lnk.3:exon11:c.A1902G:p.S634S,DENND2A:uc003vvw.3:exon10:c.A1902G:p.S634S,	UNKNOWN	Het;T>C	469;28|25	Hom;T>C	974;0|39
N	N	-	7	141635538	141635538	C	CA	indel	intronic	 	 	 	 	CLEC5A	Clec5a	ENSG00000258227	C-type lectin domain containing 5A	chr7:141627157-141646807	This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit decreased susceptibility to induced arthritis.	Neutrophil degranulation	GO:0002076;osteoblast development;ISS|GO:0002376;immune system process;IEA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0016032;viral process;IEA|GO:0030099;myeloid cell differentiation;IEA|GO:0033033;negative regulation of myeloid cell apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;TAS|GO:0046718;viral entry into host cell;IEA|GO:0050715;positive regulation of cytokine secretion;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS	GO:0001618;virus receptor activity;IDA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CLEC5A			https://www.ncbi.nlm.nih.gov/omim/?term=604987	http://www.informatics.jax.org/searchtool/Search.do?query=CLEC5A&submit=Quick%0D%20265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC5A	rs5888023	0	0	0	1	0	0	intronic	intronic	intronic	CLEC5A	CLEC5A	ENSG00000257335,ENSG00000258227	Na	Na	Na	Na	Na	Na	Het;+A	522;3|23	Hom;+A	1360;0|32
N	N	-	7	141738504	141738504	C	T	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs8180874	0.588458	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;C>T	246;4|9	Hom;C>T	493;0|15
N	N	-	7	141740077	141740077	G	T	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs2960753	0.279952	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;G>T	424;22|15	Hom;G>T	1682;0|48
N	N	-	7	141740409	141740409	A	G	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs10215116	0.592851	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;A>G	74;6|4	Hom;A>G	467;0|18
N	N	-	7	141750203	141750203	T	A	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs6971536	0.59405	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;T>A	206;1|7	Hom;T>A	272;0|9
N	N	-	7	141750472	141750472	A	G	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs62477572	0.430112	0.4686	0.5574	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;A>G	518;28|26	Hom;A>G	1275;0|45
N	N	-	7	141752006	141752007	AT	A	indel	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs71166554	0.308706	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;-T	50;1|4	Hom;-T	241;0|11
N	N	-	7	141752213	141752213	C	A	snp	synonymous SNV	C2925A	A975A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs2961085	0.302915	0.3664	0.3587	1	0	0	exonic	exonic	exonic	MGAM	MGAM	ENSG00000257335	synonymous SNV	synonymous SNV	unknown	MGAM:NM_004668:exon25:c.C2925A:p.A975A,	MGAM:uc003vwy.3:exon25:c.C2925A:p.A975A,	UNKNOWN	Het;C>A	810;62|43	Hom;C>A	3002;0|109
N	N	-	7	141752385	141752385	A	G	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs2961084	0.20607	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;A>G	109;5|5	Hom;A>G	544;0|16
N	N	-	7	141759274	141759274	T	C	snp	synonymous SNV	T3822C	D1274D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs2960758	0.219848	0	0.2676	1	0	0	exonic	exonic	exonic	MGAM	MGAM	ENSG00000257335	synonymous SNV	synonymous SNV	unknown	MGAM:NM_004668:exon32:c.T3822C:p.D1274D,	MGAM:uc003vwy.3:exon32:c.T3822C:p.D1274D,	UNKNOWN	Het;T>C	201;27|13	Hom;T>C	625;2|25
N	N	-	7	141759340	141759340	T	C	snp	synonymous SNV	T3888C	A1296A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs2961074	0.220048	0	0.3025	1	0	0	exonic	exonic	exonic	MGAM	MGAM	ENSG00000257335	synonymous SNV	synonymous SNV	unknown	MGAM:NM_004668:exon32:c.T3888C:p.A1296A,	MGAM:uc003vwy.3:exon32:c.T3888C:p.A1296A,	UNKNOWN	Het;T>C	101;30|9	Hom;T>C	822;0|29
N	N	-	7	141759787	141759787	C	G	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs4341081	0.221845	0.3093	0.3661	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;C>G	379;19|19	Hom;C>G	1091;0|36
N	N	-	7	141759806	141759820	GGGTGGGTCACTGTT	G	indel	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs371783087	0.221645	0.2865	0.2330	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;-GGTGGGTCACTGTT	117;16|5	Hom;-GGTGGGTCACTGTT	898;0|23
N	N	-	7	141759859	141759859	T	A	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs4445145	0.220447	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;T>A	63;6|4	Hom;T>A	422;0|10
N	N	-	7	141760008	141760008	T	A	snp	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs4492290	0.203275	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;T>A	163;6|7	Hom;T>A	352;0|12
N	N	-	7	141788547	141788555	GTCTATCTA	G	indel	intronic	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	Na	0	0	0	1	0	0	intronic	intronic	intronic	MGAM	MGAM	ENSG00000257335	Na	Na	Na	Na	Na	Na	Het;-TCTATCTA	165;7|6	Hom;-TCTATCTA	368;0|9
N	N	-	7	141794263	141794263	A	G	snp	unknown	 	 	 	 	MGAM	Mgam	ENSG00000282607	maltase-glucoamylase	chr7:141607613-141806547	This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking	Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.		GO:0005975;carbohydrate metabolic process;IEA		GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGAM			https://www.ncbi.nlm.nih.gov/omim/?term=154360	http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM	rs3087322	0.229433	0	0.2792	1	0	0	intronic	intronic	exonic	MGAM	MGAM	ENSG00000257335	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	1769;77|82	Hom;A>G	1342;0|49
N	N	-	7	141854436	141854436	A	T	snp	intronic	 	 	 	 	LOC93432																		rs61281471	0.245208	0	0	1	0	0	intronic	intergenic	intronic	LOC93432	LOC93432(dist=10653),AK131337(dist=16534)	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;A>T	127;8|6	Hom;A>T	905;0|28
N	N	-	7	141854659	141854659	A	G	snp	intronic	 	 	 	 	LOC93432																		rs11770705	0.245807	0	0.2734	1	0	0	intronic	intergenic	intronic	LOC93432	LOC93432(dist=10876),AK131337(dist=16311)	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;A>G	678;54|34	Hom;A>G	2894;0|96
N	N	-	7	141860199	141860199	A	G	snp	intronic	 	 	 	 	LOC93432																		rs60403744	0.228634	0	0	1	0	0	intronic	intergenic	intronic	LOC93432	LOC93432(dist=16416),AK131337(dist=10771)	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;A>G	67;2|3	Hom;A>G	205;0|6
N	N	-	7	141860861	141860861	T	C	snp	intronic	 	 	 	 	LOC93432																		rs34106041	0.276757	0	0	1	0	0	intronic	intergenic	intronic	LOC93432	LOC93432(dist=17078),AK131337(dist=10109)	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;T>C	228;19|10	Hom;T>C	1020;4|35
N	N	-	7	141861072	141861072	C	A	snp	intronic	 	 	 	 	LOC93432																		rs12703440	0.228035	0	0	1	0	0	intronic	intergenic	intronic	LOC93432	LOC93432(dist=17289),AK131337(dist=9898)	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;C>A	669;22|31	Hom;C>A	1110;0|40
N	N	-	7	141870134	141870134	G	T	snp	upstream	 	 	 	 	AK131337																		rs56365887	0.479034	0	0	1	0	0	intronic	upstream	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;G>T	180;7|7	Hom;G>T	439;0|15
N	N	-	7	141871251	141871251	A	T	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs7779634	0.507987	0	0.4313	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;A>T	885;31|40	Hom;A>T	2283;0|84
N	N	-	7	141872892	141872892	G	A	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs9986873	0.610823	0	0	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;G>A	95;1|4	Hom;G>A	109;0|4
N	N	-	7	141872996	141872996	A	G	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs73158454	0.236222	0	0.2401	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;A>G	1103;19|27	Hom;A>G	1669;0|37
N	N	-	7	141873000	141873000	T	A	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs9986803	0.580871	0	0.5210	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;T>A	1103;20|30	Hom;T>A	1669;0|38
N	N	-	7	141875431	141875431	C	T	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs12532575	0.236022	0	0.2554	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;C>T	568;17|27	Hom;C>T	1218;0|48
N	N	-	7	141875594	141875594	C	A	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs6958066	0.236022	0	0.2579	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;C>A	481;16|21	Hom;C>A	1152;0|42
N	N	-	7	141875671	141875671	C	G	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs6958102	0.235823	0	0	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;C>G	118;6|6	Hom;C>G	411;0|14
N	N	-	7	141898023	141898023	C	A	snp	ncRNA_intronic	 	 	 	 	AK131337																		rs4260813	0.423123	0	0.4390	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;C>A	1244;72|60	Hom;C>A	3049;2|116
N	N	-	7	141899660	141899660	C	CT	indel	ncRNA_intronic	 	 	 	 	AK131337																		rs33934662	0.651757	0	0.3818	1	0	0	intronic	ncRNA_intronic	intronic	LOC93432	AK131337	ENSG00000257743	Na	Na	Na	Na	Na	Na	Het;+T	1076;22|60	Hom;+T	1341;8|67
N	N	-	7	141969003	141969003	G	A	snp	ncRNA_exonic	 	 	 	 	TRY2P																		rs9640366	0.277556	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	TRY2P	LOC730441	ENSG00000186163	Na	Na	Na	Na	Na	Na	Het;G>A	2496;147|121	Hom;G>A	5073;4|180
N	N	-	7	142222184	142222184	T	C	snp	intronic	 	 	 	 	BV13S1J2.7																		rs11761002	0.721446	0	0	1	0	0	intergenic	intronic	intergenic	TRY2P(dist=250116),MTRNR2L6(dist=151947)	BV13S1J2.7,BV13S6J2.1,TCRBV5S1A1T	ENSG00000244661(dist=5452),ENSG00000211720(dist=1636)	Na	Na	Na	Na	Na	Na	Het;T>C	159;10|10	Hom;T>C	163;0|7
N	N	-	7	142468189	142468189	C	G	snp	upstream	 	 	 	 	PRSS3P1																		rs1969595	0.609425	0	0	1	0	0	intergenic	ncRNA_intronic	upstream	PRSS1(dist=7262),PRSS3P2(dist=10568)	BV6S4-BJ2S2,TCRVB	ENSG00000250591	Na	Na	Na	Na	Na	Na	Het;C>G	553;3|20	Hom;C>G	920;0|29
N	N	-	7	143088526	143088526	T	C	snp	UTR3	*24A>G	 	 	 	EPHA1	Epha1	ENSG00000146904	EPH receptor A1	chr7:143087382-143105985	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease	Most mice homozygous for a null allele exhibit a kinked tail while 18% of mice exhibit vagina atresia with hydrometrocolops and infertility.	EPH-ephrin mediated repulsion of cells	GO:0001525;angiogenesis;IEA|GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030335;positive regulation of cell migration;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0043087;regulation of GTPase activity;IDA|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0090630;activation of GTPase activity;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005005;transmembrane-ephrin receptor activity;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EPHA1	https://www.uniprot.org/uniprot/P21709		https://www.ncbi.nlm.nih.gov/omim/?term=179610	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA1&submit=Quick%0D%8927ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA1	rs1131885	0.163538	0.2717	0.2796	1	0	0	UTR3	UTR3	UTR3	EPHA1(NM_005232:c.*24A>G)	EPHA1(uc003wcz.3:c.*24A>G)	ENSG00000146904(ENST00000275815:c.*24A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	73;14|5	Hom;T>C	943;0|31
N	N	-	7	143095256	143095256	A	G	snp	intronic	 	 	 	 	EPHA1	Epha1	ENSG00000146904	EPH receptor A1	chr7:143087382-143105985	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease	Most mice homozygous for a null allele exhibit a kinked tail while 18% of mice exhibit vagina atresia with hydrometrocolops and infertility.	EPH-ephrin mediated repulsion of cells	GO:0001525;angiogenesis;IEA|GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030335;positive regulation of cell migration;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0043087;regulation of GTPase activity;IDA|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0090630;activation of GTPase activity;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005005;transmembrane-ephrin receptor activity;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EPHA1	https://www.uniprot.org/uniprot/P21709		https://www.ncbi.nlm.nih.gov/omim/?term=179610	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA1&submit=Quick%0D%8927ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA1	rs35251323	0.167332	0	0	1	0	0	intronic	intronic	intronic	EPHA1	EPHA1	ENSG00000146904	Na	Na	Na	Na	Na	Na	Het;A>G	403;24|19	Hom;A>G	1358;0|45
N	N	-	7	143105830	143105830	C	A	snp	synonymous SNV	G69T	A23A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EPHA1	Epha1	ENSG00000146904	EPH receptor A1	chr7:143087382-143105985	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease	Most mice homozygous for a null allele exhibit a kinked tail while 18% of mice exhibit vagina atresia with hydrometrocolops and infertility.	EPH-ephrin mediated repulsion of cells	GO:0001525;angiogenesis;IEA|GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030335;positive regulation of cell migration;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0043087;regulation of GTPase activity;IDA|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0090630;activation of GTPase activity;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005005;transmembrane-ephrin receptor activity;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EPHA1	https://www.uniprot.org/uniprot/P21709		https://www.ncbi.nlm.nih.gov/omim/?term=179610	http://www.informatics.jax.org/searchtool/Search.do?query=EPHA1&submit=Quick%0D%8927ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA1	rs12703524	0.396765	0	0	1	0	0	exonic	exonic	exonic	EPHA1	EPHA1	ENSG00000146904	synonymous SNV	synonymous SNV	unknown	EPHA1:NM_005232:exon1:c.G69T:p.A23A,	EPHA1:uc003wcz.3:exon1:c.G69T:p.A23A,	UNKNOWN	Het;C>A	169;14|11	Hom;C>A	502;0|21
N	N	-	7	143141475	143141475	T	C	snp	synonymous SNV	T930C	R310R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TAS2R60	Tas2r135	ENSG00000185899	taste 2 receptor member 60	chr7:143140546-143141502			 	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA|GO:0050913;sensory perception of bitter taste;NAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAS2R60			https://www.ncbi.nlm.nih.gov/omim/?term=613968	http://www.informatics.jax.org/searchtool/Search.do?query=TAS2R60&submit=Quick%0D%15517ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS2R60	rs4595035	0.707268	0.6234	0.6964	1	0	0	exonic	exonic	exonic	TAS2R60	TAS2R60	ENSG00000185899	synonymous SNV	synonymous SNV	unknown	TAS2R60:NM_177437:exon1:c.T930C:p.R310R,	TAS2R60:uc011ktg.2:exon1:c.T930C:p.R310R,	UNKNOWN	Het;T>C	382;22|19	Hom;T>C	1424;0|43
N	N	-	7	143174892	143174892	A	G	snp	ncRNA_intronic	 	 	 	 	EPHA1-AS1																		rs1404634	0.741414	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	EPHA1-AS1	EPHA1-AS1	ENSG00000229153	Na	Na	Na	Na	Na	Na	Het;A>G	223;1|7	Hom;A>G	332;0|11
N	N	-	7	143175154	143175154	G	A	snp	synonymous SNV	G189A	T63T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TAS2R41	Tas2r126	ENSG00000221855	taste 2 receptor member 41	chr7:143174966-143175889			 	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAS2R41			https://www.ncbi.nlm.nih.gov/omim/?term=613965	http://www.informatics.jax.org/searchtool/Search.do?query=TAS2R41&submit=Quick%0D%18407ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS2R41	rs1404635	0.211062	0.2012	0.2623	1	0	0	exonic	exonic	exonic	TAS2R41	TAS2R41	ENSG00000221855	synonymous SNV	synonymous SNV	unknown	TAS2R41:NM_176883:exon1:c.G189A:p.T63T,	TAS2R41:uc003wdc.1:exon1:c.G189A:p.T63T,	UNKNOWN	Het;G>A	990;35|52	Hom;G>A	2432;2|97
N	N	-	7	143175345	143175345	C	T	snp	nonsynonymous SNV	C380T	P127L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TAS2R41	Tas2r126	ENSG00000221855	taste 2 receptor member 41	chr7:143174966-143175889			 	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TAS2R41			https://www.ncbi.nlm.nih.gov/omim/?term=613965	http://www.informatics.jax.org/searchtool/Search.do?query=TAS2R41&submit=Quick%0D%18407ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS2R41	rs10278721	0.211262	0.2049	0.2621	0.17	2	12	exonic	exonic	exonic	TAS2R41	TAS2R41	ENSG00000221855	nonsynonymous SNV	nonsynonymous SNV	unknown	TAS2R41:NM_176883:exon1:c.C380T:p.P127L,	TAS2R41:uc003wdc.1:exon1:c.C380T:p.P127L,	UNKNOWN	Het;C>T	1428;52|60	Hom;C>T	2754;1|94
N	N	-	7	143216268	143216268	G	A	snp	ncRNA_exonic	 	 	 	 	EPHA1-AS1																		rs2949768	0.511182	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EPHA1-AS1	EPHA1-AS1(uc003wda.4:c.*154G>A)	ENSG00000229153	Na	Na	Na	Na	Na	Na	Het;G>A	2046;76|94	Hom;G>A	3584;0|126
N	N	-	7	143216729	143216729	A	G	snp	ncRNA_exonic	 	 	 	 	EPHA1-AS1																		rs2949769	0.511182	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EPHA1-AS1	EPHA1-AS1(uc003wda.4:c.*615A>G)	ENSG00000229153	Na	Na	Na	Na	Na	Na	Het;A>G	1766;76|81	Hom;A>G	4271;0|147
N	N	-	7	143217190	143217190	C	A	snp	ncRNA_exonic	 	 	 	 	EPHA1-AS1																		rs2949770	0.695288	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EPHA1-AS1	EPHA1-AS1(uc003wda.4:c.*1076C>A)	ENSG00000229153	Na	Na	Na	Na	Na	Na	Het;C>A	1858;94|88	Hom;C>A	4456;0|161
N	N	-	7	143217628	143217628	T	C	snp	ncRNA_exonic	 	 	 	 	EPHA1-AS1																		rs2949771	0.50619	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EPHA1-AS1	EPHA1-AS1(uc003wda.4:c.*1514T>C)	ENSG00000229153	Na	Na	Na	Na	Na	Na	Het;T>C	3011;92|136	Hom;T>C	5530;3|207
N	N	-	7	143219678	143219678	G	A	snp	ncRNA_exonic	 	 	 	 	EPHA1-AS1																		rs2966696	0.496406	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	EPHA1-AS1	EPHA1-AS1(uc003wda.4:c.*3564G>A)	ENSG00000229153	Na	Na	Na	Na	Na	Na	Het;G>A	831;30|38	Hom;G>A	2074;5|79
N	N	-	7	144061119	144061119	C	T	snp	synonymous SNV	C1357T	L453L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF5	Arhgef5	ENSG00000050327	Rho guanine nucleotide exchange factor 5	chr7:144052381-144077725	Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model.	G alpha (12/13) signalling events	GO:0002408;myeloid dendritic cell chemotaxis;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IDA|GO:0043507;positive regulation of JUN kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051493;regulation of cytoskeleton organization;IMP|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0071803;positive regulation of podosome assembly;IEA|GO:1904591;positive regulation of protein import;IMP	GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0071944;cell periphery;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF5	https://www.uniprot.org/uniprot/Q12774		https://www.ncbi.nlm.nih.gov/omim/?term=600888	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF5&submit=Quick%0D%923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF5	rs200279177	0.120807	0.0724	0.2323	1	0	0	exonic	exonic	exonic	ARHGEF5	ARHGEF5	ENSG00000050327	synonymous SNV	synonymous SNV	unknown	ARHGEF5:NM_005435:exon2:c.C1357T:p.L453L,	ARHGEF5:uc003wek.3:exon2:c.C1357T:p.L453L,ARHGEF5:uc003wel.3:exon2:c.C1357T:p.L453L,	UNKNOWN	Het;C>T	1294;129|72	Hom;C>T	1088;0|40
N	N	-	7	144068163	144068163	T	C	snp	intronic	 	 	 	 	ARHGEF5	Arhgef5	ENSG00000050327	Rho guanine nucleotide exchange factor 5	chr7:144052381-144077725	Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model.	G alpha (12/13) signalling events	GO:0002408;myeloid dendritic cell chemotaxis;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IDA|GO:0043507;positive regulation of JUN kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051493;regulation of cytoskeleton organization;IMP|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0071803;positive regulation of podosome assembly;IEA|GO:1904591;positive regulation of protein import;IMP	GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0071944;cell periphery;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF5	https://www.uniprot.org/uniprot/Q12774		https://www.ncbi.nlm.nih.gov/omim/?term=600888	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF5&submit=Quick%0D%923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF5	rs2699508	0.611621	0	0	1	0	0	intronic	intronic	intronic	ARHGEF5	ARHGEF5	ENSG00000050327	Na	Na	Na	Na	Na	Na	Het;T>C	1673;19|59	Hom;T>C	1894;0|65
N	N	-	7	144633224	144633224	A	G	snp	intergenic	 	 	 	 	RN7SKP174																		rs2692394	0.397165	0	0	1	0	0	intergenic	intergenic	intergenic	TPK1(dist=100078),CNTNAP2(dist=1180229)	TPK1(dist=100078),DQ597485(dist=1061260)	ENSG00000200673(dist=86047),ENSG00000236343(dist=68927)	Na	Na	Na	Na	Na	Na	Het;A>G	35;8|4	Hom;A>G	235;0|10
N	N	-	7	144683065	144683065	G	T	snp	intergenic	 	 	 	 	RN7SKP174																		rs2888147	0.524561	0	0	1	0	0	intergenic	intergenic	intergenic	TPK1(dist=149919),CNTNAP2(dist=1130388)	TPK1(dist=149919),DQ597485(dist=1011419)	ENSG00000200673(dist=135888),ENSG00000236343(dist=19086)	Na	Na	Na	Na	Na	Na	Het;G>T	706;78|41	Hom;G>T	2192;0|82
N	N	-	7	144702641	144702641	A	C	snp	ncRNA_exonic	 	 	 	 	EI24P4																		rs6960872	0.480631	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TPK1(dist=169495),CNTNAP2(dist=1110812)	TPK1(dist=169495),DQ597485(dist=991843)	ENSG00000236343	Na	Na	Na	Na	Na	Na	Het;A>C	91;8|5	Hom;A>C	299;0|13
N	N	-	7	144703616	144703616	G	T	snp	downstream	 	 	 	 	EI24P4																		rs10225902	0.702676	0	0	1	0	0	intergenic	intergenic	downstream	TPK1(dist=170470),CNTNAP2(dist=1109837)	TPK1(dist=170470),DQ597485(dist=990868)	ENSG00000236343	Na	Na	Na	Na	Na	Na	Het;G>T	83;3|5	Hom;G>T	355;0|12
N	N	-	7	144703646	144703648	GTA	G	indel	downstream	 	 	 	 	EI24P4																		rs35881481	0.466054	0	0	1	0	0	intergenic	intergenic	downstream	TPK1(dist=170500),CNTNAP2(dist=1109805)	TPK1(dist=170500),DQ597485(dist=990836)	ENSG00000236343	Na	Na	Na	Na	Na	Na	Het;-TA	128;1|4	Hom;-TA	268;0|7
N	N	-	7	144703987	144703987	G	A	snp	downstream	 	 	 	 	EI24P4																		rs17394323	0.449081	0	0	1	0	0	intergenic	intergenic	downstream	TPK1(dist=170841),CNTNAP2(dist=1109466)	TPK1(dist=170841),DQ597485(dist=990497)	ENSG00000236343	Na	Na	Na	Na	Na	Na	Het;G>A	115;15|7	Hom;G>A	307;0|11
N	N	-	7	144707022	144707022	C	T	snp	upstream	 	 	 	 	AC073310.1																		rs7796110	0.453874	0	0	1	0	0	intergenic	intergenic	upstream	TPK1(dist=173876),CNTNAP2(dist=1106431)	TPK1(dist=173876),DQ597485(dist=987462)	ENSG00000214035	Na	Na	Na	Na	Na	Na	Het;C>T	110;10|4	Hom;C>T	537;0|12
N	N	-	7	144707023	144707023	A	G	snp	upstream	 	 	 	 	AC073310.1																		rs7778679	0.45607	0	0	1	0	0	intergenic	intergenic	upstream	TPK1(dist=173877),CNTNAP2(dist=1106430)	TPK1(dist=173877),DQ597485(dist=987461)	ENSG00000214035	Na	Na	Na	Na	Na	Na	Het;A>G	110;10|4	Hom;A>G	537;0|13
N	N	-	7	144733145	144733145	C	CCCCCACCAT	indel	intergenic	 	 	 	 	AC073310.1																		rs111401593	0.414537	0	0	1	0	0	intergenic	intergenic	intergenic	TPK1(dist=199999),CNTNAP2(dist=1080308)	TPK1(dist=199999),DQ597485(dist=961339)	ENSG00000214035(dist=25059),ENSG00000225918(dist=3947)	Na	Na	Na	Na	Na	Na	Het;+CCCCACCAT	1254;87|36	Hom;+CCCCACCAT	2621;0|60
N	N	-	7	144733158	144733158	A	G	snp	intergenic	 	 	 	 	AC073310.1																		rs71528963	0.416534	0	0	1	0	0	intergenic	intergenic	intergenic	TPK1(dist=200012),CNTNAP2(dist=1080295)	TPK1(dist=200012),DQ597485(dist=961326)	ENSG00000214035(dist=25072),ENSG00000225918(dist=3934)	Na	Na	Na	Na	Na	Na	Het;A>G	1216;86|36	Hom;A>G	1325;0|54
N	N	-	7	145280663	145280663	G	T	snp	ncRNA_exonic	 	 	 	 	AC073055.1																		rs17169763	0.283147	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TPK1(dist=747517),CNTNAP2(dist=532790)	TPK1(dist=747517),DQ597485(dist=413821)	ENSG00000231839	Na	Na	Na	Na	Na	Na	Het;G>T	783;33|35	Hom;G>T	1620;1|61
N	N	-	7	145283079	145283079	G	A	snp	intergenic	 	 	 	 	AC073055.1																		rs17169765	0.278754	0	0	1	0	0	intergenic	intergenic	intergenic	TPK1(dist=749933),CNTNAP2(dist=530374)	TPK1(dist=749933),DQ597485(dist=411405)	ENSG00000231839(dist=1169),ENSG00000230746(dist=89896)	Na	Na	Na	Na	Na	Na	Het;G>A	202;10|10	Hom;G>A	938;0|36
N	N	-	7	146687011	146687012	AT	A	indel	intronic	 	 	 	 	CNTNAP2	Cntnap2	ENSG00000278728	contactin associated protein like 2	chr7:145813453-148118090	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Body Mass Index; Schizophrenia|Epilepsy; Body Weight; Alzheimer Disease; Diabetes Mellitus; Breath Tests; Heart Rate; Cholesterol; Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Stroke; Waist-Hip Ratio; Carotid Artery Diseases; Mental Disorders; Bipolar Disorder; Heart Failure; Bone Mineral Density; ADHD | attention-deficit hyperactivity disorder; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Survival; Crohn Disease; Language Development Disorders; Bone Density; Echocardiography; Cholesterol, LDL; autism; Adiponectin; Epilepsy; personality	Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.		GO:0007155;cell adhesion;IEA|GO:0007420;brain development;TAS|GO:0007612;learning;IMP|GO:0008038;neuron recognition;NAS|GO:0019226;transmission of nerve impulse;NAS|GO:0021756;striatum development;IEP|GO:0021761;limbic system development;IEP|GO:0021794;thalamus development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0030534;adult behavior;IMP|GO:0031175;neuron projection development;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0071109;superior temporal gyrus development;IEP|GO:0071205;protein localization to juxtaparanode region of axon;IEA|GO:0071625;vocalization behavior;IMP	GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;NAS|GO:0030425;dendrite;NAS|GO:0030673;axolemma;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;NAS|GO:0043204;perikaryon;NAS|GO:0044224;juxtaparanode region of axon;ISS	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP2		https://hpo.jax.org/app/browse/search?q=CNTNAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604569	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP2&submit=Quick%0D%22125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP2	rs397890556	0.59365	0	0	1	0	0	intronic	intronic	intronic	CNTNAP2	CNTNAP2	ENSG00000174469	Na	Na	Na	Na	Na	Na	Het;-T	389;27|26	Hom;-T	1295;1|57
N	N	-	7	146879704	146879704	G	A	snp	intronic	 	 	 	 	CNTNAP2	Cntnap2	ENSG00000278728	contactin associated protein like 2	chr7:145813453-148118090	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Body Mass Index; Schizophrenia|Epilepsy; Body Weight; Alzheimer Disease; Diabetes Mellitus; Breath Tests; Heart Rate; Cholesterol; Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Stroke; Waist-Hip Ratio; Carotid Artery Diseases; Mental Disorders; Bipolar Disorder; Heart Failure; Bone Mineral Density; ADHD | attention-deficit hyperactivity disorder; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Survival; Crohn Disease; Language Development Disorders; Bone Density; Echocardiography; Cholesterol, LDL; autism; Adiponectin; Epilepsy; personality	Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.		GO:0007155;cell adhesion;IEA|GO:0007420;brain development;TAS|GO:0007612;learning;IMP|GO:0008038;neuron recognition;NAS|GO:0019226;transmission of nerve impulse;NAS|GO:0021756;striatum development;IEP|GO:0021761;limbic system development;IEP|GO:0021794;thalamus development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0030534;adult behavior;IMP|GO:0031175;neuron projection development;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0071109;superior temporal gyrus development;IEP|GO:0071205;protein localization to juxtaparanode region of axon;IEA|GO:0071625;vocalization behavior;IMP	GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;NAS|GO:0030425;dendrite;NAS|GO:0030673;axolemma;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;NAS|GO:0043204;perikaryon;NAS|GO:0044224;juxtaparanode region of axon;ISS	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP2		https://hpo.jax.org/app/browse/search?q=CNTNAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604569	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP2&submit=Quick%0D%22125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP2	rs4282491	0.184505	0	0	1	0	0	intronic	intronic	intronic	CNTNAP2	CNTNAP2	ENSG00000174469	Na	Na	Na	Na	Na	Na	Het;G>A	271;21|15	Hom;G>A	615;0|23
N	N	-	7	147574509	147574509	C	T	snp	intronic	 	 	 	 	CNTNAP2	Cntnap2	ENSG00000278728	contactin associated protein like 2	chr7:145813453-148118090	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Body Mass Index; Schizophrenia|Epilepsy; Body Weight; Alzheimer Disease; Diabetes Mellitus; Breath Tests; Heart Rate; Cholesterol; Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Stroke; Waist-Hip Ratio; Carotid Artery Diseases; Mental Disorders; Bipolar Disorder; Heart Failure; Bone Mineral Density; ADHD | attention-deficit hyperactivity disorder; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Survival; Crohn Disease; Language Development Disorders; Bone Density; Echocardiography; Cholesterol, LDL; autism; Adiponectin; Epilepsy; personality	Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.		GO:0007155;cell adhesion;IEA|GO:0007420;brain development;TAS|GO:0007612;learning;IMP|GO:0008038;neuron recognition;NAS|GO:0019226;transmission of nerve impulse;NAS|GO:0021756;striatum development;IEP|GO:0021761;limbic system development;IEP|GO:0021794;thalamus development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0030534;adult behavior;IMP|GO:0031175;neuron projection development;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0071109;superior temporal gyrus development;IEP|GO:0071205;protein localization to juxtaparanode region of axon;IEA|GO:0071625;vocalization behavior;IMP	GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;NAS|GO:0030425;dendrite;NAS|GO:0030673;axolemma;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;NAS|GO:0043204;perikaryon;NAS|GO:0044224;juxtaparanode region of axon;ISS	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP2		https://hpo.jax.org/app/browse/search?q=CNTNAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604569	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP2&submit=Quick%0D%22125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP2	rs2538994	0.770767	0	0	1	0	0	intronic	intronic	intronic	CNTNAP2	CNTNAP2	ENSG00000174469	Na	Na	Na	Na	Na	Na	Het;C>T	342;1|13	Hom;C>T	204;0|9
N	N	-	7	14775821	14775822	TG	T	indel	splicing	 	 	 	 	DGKB	Dgkb	ENSG00000136267	diacylglycerol kinase beta	chr7:14184674-15014402	Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes; Bone Density; Myocardial Infarction; Echocardiography; Hemoglobins; Forced Expiratory Volume; Tobacco Use Disorder; glucose-stimulated beta cell function; response to treatment for acute lymphoblastic leukemia; Narcolepsy; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; fasting glucose-related traits ; Erythrocyte Count	Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory.	Effects of PIP2 hydrolysis	GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0046486;glycerolipid metabolic process;IDA|GO:0046834;lipid phosphorylation;IDA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DGKB	https://www.uniprot.org/uniprot/Q9Y6T7		https://www.ncbi.nlm.nih.gov/omim/?term=604070	http://www.informatics.jax.org/searchtool/Search.do?query=DGKB&submit=Quick%0D%7320ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKB	rs139628753	0.558307	0.6623	0.6914	1	0	0	splicing	splicing	splicing	DGKB	DGKB	ENSG00000136267	Na	Na	Na	Na	Na	Na	Het;-G	919;35|27	Hom;-G	1994;0|48
N	N	-	7	14775824	14775824	A	C	snp	intronic	 	 	 	 	DGKB	Dgkb	ENSG00000136267	diacylglycerol kinase beta	chr7:14184674-15014402	Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes; Bone Density; Myocardial Infarction; Echocardiography; Hemoglobins; Forced Expiratory Volume; Tobacco Use Disorder; glucose-stimulated beta cell function; response to treatment for acute lymphoblastic leukemia; Narcolepsy; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; fasting glucose-related traits ; Erythrocyte Count	Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory.	Effects of PIP2 hydrolysis	GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0046486;glycerolipid metabolic process;IDA|GO:0046834;lipid phosphorylation;IDA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DGKB	https://www.uniprot.org/uniprot/Q9Y6T7		https://www.ncbi.nlm.nih.gov/omim/?term=604070	http://www.informatics.jax.org/searchtool/Search.do?query=DGKB&submit=Quick%0D%7320ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKB	rs80024169	0.558307	0	0.7303	1	0	0	intronic	intronic	intronic	DGKB	DGKB	ENSG00000136267	Na	Na	Na	Na	Na	Na	Het;A>C	928;31|28	Hom;A>C	2002;0|48
N	N	-	7	148106475	148106475	C	CTT	indel	intronic	 	 	 	 	CNTNAP2	Cntnap2	ENSG00000278728	contactin associated protein like 2	chr7:145813453-148118090	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Body Mass Index; Schizophrenia|Epilepsy; Body Weight; Alzheimer Disease; Diabetes Mellitus; Breath Tests; Heart Rate; Cholesterol; Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Stroke; Waist-Hip Ratio; Carotid Artery Diseases; Mental Disorders; Bipolar Disorder; Heart Failure; Bone Mineral Density; ADHD | attention-deficit hyperactivity disorder; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Survival; Crohn Disease; Language Development Disorders; Bone Density; Echocardiography; Cholesterol, LDL; autism; Adiponectin; Epilepsy; personality	Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.		GO:0007155;cell adhesion;IEA|GO:0007420;brain development;TAS|GO:0007612;learning;IMP|GO:0008038;neuron recognition;NAS|GO:0019226;transmission of nerve impulse;NAS|GO:0021756;striatum development;IEP|GO:0021761;limbic system development;IEP|GO:0021794;thalamus development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0030534;adult behavior;IMP|GO:0031175;neuron projection development;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0071109;superior temporal gyrus development;IEP|GO:0071205;protein localization to juxtaparanode region of axon;IEA|GO:0071625;vocalization behavior;IMP	GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;NAS|GO:0030425;dendrite;NAS|GO:0030673;axolemma;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;NAS|GO:0043204;perikaryon;NAS|GO:0044224;juxtaparanode region of axon;ISS	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP2		https://hpo.jax.org/app/browse/search?q=CNTNAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604569	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP2&submit=Quick%0D%22125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP2	rs397782655	0.547923	0	0.5027	1	0	0	intronic	intronic	intronic	CNTNAP2	CNTNAP2	ENSG00000174469	Na	Na	Na	Na	Na	Na	Het;+TT	3135;123|85	Hom;+TT	6705;1|150
N	N	-	7	148106477	148106477	C	CTG	indel	intronic	 	 	 	 	CNTNAP2	Cntnap2	ENSG00000278728	contactin associated protein like 2	chr7:145813453-148118090	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Body Mass Index; Schizophrenia|Epilepsy; Body Weight; Alzheimer Disease; Diabetes Mellitus; Breath Tests; Heart Rate; Cholesterol; Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Stroke; Waist-Hip Ratio; Carotid Artery Diseases; Mental Disorders; Bipolar Disorder; Heart Failure; Bone Mineral Density; ADHD | attention-deficit hyperactivity disorder; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Survival; Crohn Disease; Language Development Disorders; Bone Density; Echocardiography; Cholesterol, LDL; autism; Adiponectin; Epilepsy; personality	Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.		GO:0007155;cell adhesion;IEA|GO:0007420;brain development;TAS|GO:0007612;learning;IMP|GO:0008038;neuron recognition;NAS|GO:0019226;transmission of nerve impulse;NAS|GO:0021756;striatum development;IEP|GO:0021761;limbic system development;IEP|GO:0021794;thalamus development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0030534;adult behavior;IMP|GO:0031175;neuron projection development;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0071109;superior temporal gyrus development;IEP|GO:0071205;protein localization to juxtaparanode region of axon;IEA|GO:0071625;vocalization behavior;IMP	GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;NAS|GO:0030425;dendrite;NAS|GO:0030673;axolemma;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;NAS|GO:0043204;perikaryon;NAS|GO:0044224;juxtaparanode region of axon;ISS	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP2		https://hpo.jax.org/app/browse/search?q=CNTNAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604569	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP2&submit=Quick%0D%22125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP2	rs374969707	0.547923	0	0.5143	1	0	0	intronic	intronic	intronic	CNTNAP2	CNTNAP2	ENSG00000174469	Na	Na	Na	Na	Na	Na	Het;+TG	3241;125|84	Hom;+TG	6914;1|151
N	N	-	7	148106490	148106490	G	A	snp	synonymous SNV	G3723A	A1241A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CNTNAP2	Cntnap2	ENSG00000278728	contactin associated protein like 2	chr7:145813453-148118090	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Body Mass Index; Schizophrenia|Epilepsy; Body Weight; Alzheimer Disease; Diabetes Mellitus; Breath Tests; Heart Rate; Cholesterol; Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Stroke; Waist-Hip Ratio; Carotid Artery Diseases; Mental Disorders; Bipolar Disorder; Heart Failure; Bone Mineral Density; ADHD | attention-deficit hyperactivity disorder; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Survival; Crohn Disease; Language Development Disorders; Bone Density; Echocardiography; Cholesterol, LDL; autism; Adiponectin; Epilepsy; personality	Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.		GO:0007155;cell adhesion;IEA|GO:0007420;brain development;TAS|GO:0007612;learning;IMP|GO:0008038;neuron recognition;NAS|GO:0019226;transmission of nerve impulse;NAS|GO:0021756;striatum development;IEP|GO:0021761;limbic system development;IEP|GO:0021794;thalamus development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0030534;adult behavior;IMP|GO:0031175;neuron projection development;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045163;clustering of voltage-gated potassium channels;ISS|GO:0071109;superior temporal gyrus development;IEP|GO:0071205;protein localization to juxtaparanode region of axon;IEA|GO:0071625;vocalization behavior;IMP	GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;NAS|GO:0030425;dendrite;NAS|GO:0030673;axolemma;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;NAS|GO:0043204;perikaryon;NAS|GO:0044224;juxtaparanode region of axon;ISS	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP2		https://hpo.jax.org/app/browse/search?q=CNTNAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604569	http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP2&submit=Quick%0D%22125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP2	rs9648691	0.549121	0.5850	0.5407	1	0	0	exonic	exonic	exonic	CNTNAP2	CNTNAP2	ENSG00000174469	synonymous SNV	synonymous SNV	unknown	CNTNAP2:NM_014141:exon23:c.G3723A:p.A1241A,	CNTNAP2:uc003weu.2:exon23:c.G3723A:p.A1241A,CNTNAP2:uc003wev.2:exon3:c.G54A:p.A18A,	UNKNOWN	Het;G>A	3325;132|93	Hom;G>A	7176;2|168
N	N	-	7	149018936	149018936	A	AT	indel	downstream	 	 	 	 	AC004941.2																		rs34891976	0.374201	0	0	1	0	0	intergenic	intergenic	downstream	LOC155060(dist=24533),ZNF777(dist=109518)	TRNA_Cys(dist=11584),TRNA_Cys(dist=9284)	ENSG00000231397	Na	Na	Na	Na	Na	Na	Het;+T	408;12|14	Hom;+T	1233;0|34
N	N	-	7	149032258	149032258	T	TA	indel	downstream	 	 	 	 	NPM1P12																		rs35244419	0.617212	0	0	1	0	0	intergenic	intergenic	downstream	LOC155060(dist=37855),ZNF777(dist=96196)	TRNA_Cys(dist=3967),TRNA_Cys(dist=20508)	ENSG00000215311	Na	Na	Na	Na	Na	Na	Het;+A	46;4|4	Hom;+A	151;0|7
N	N	-	7	149148319	149148319	T	C	snp	intronic	 	 	 	 	ZNF777	Zfp777	ENSG00000196453	zinc finger protein 777	chr7:149128454-149158214			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF777				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF777&submit=Quick%0D%16368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF777	rs4727071	0.71226	0	0	1	0	0	intronic	intronic	intronic	ZNF777	ZNF777	ENSG00000196453	Na	Na	Na	Na	Na	Na	Het;T>C	433;13|20	Hom;T>C	878;0|29
N	N	-	7	149152770	149152770	A	G	snp	nonsynonymous SNV	T344C	V115A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF777	Zfp777	ENSG00000196453	zinc finger protein 777	chr7:149128454-149158214			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF777				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF777&submit=Quick%0D%16368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF777	rs3735319	0.661142	0.5693	0.6067	0.15	2	13	exonic	exonic	exonic	ZNF777	ZNF777	ENSG00000196453	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF777:NM_015694:exon2:c.T344C:p.V115A,	ZNF777:uc003wfv.3:exon2:c.T344C:p.V115A,	UNKNOWN	Het;A>G	1234;74|56	Hom;A>G	4053;0|148
N	N	-	7	149152906	149152906	G	A	snp	nonsynonymous SNV	C208T	R70W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	ZNF777	Zfp777	ENSG00000196453	zinc finger protein 777	chr7:149128454-149158214			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF777				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF777&submit=Quick%0D%16368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF777	rs3735318	0.604832	0.5083	0.5774	0.23	3	13	exonic	exonic	exonic	ZNF777	ZNF777	ENSG00000196453	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF777:NM_015694:exon2:c.C208T:p.R70W,	ZNF777:uc003wfv.3:exon2:c.C208T:p.R70W,	UNKNOWN	Het;G>A	2544;102|120	Hom;G>A	4727;0|167
N	N	-	7	149500013	149500013	C	G	snp	ncRNA_intronic	 	 	 	 	SSPO	Sspo	ENSG00000197558	SCO-spondin	chr7:149473131-149531068		Amyotrophic Lateral Sclerosis; Type 2 Diabetes| edema | rosiglitazone	 		GO:0007399;nervous system development;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0030154;cell differentiation;IEA		GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SSPO			https://www.ncbi.nlm.nih.gov/omim/?term=617356	http://www.informatics.jax.org/searchtool/Search.do?query=SSPO&submit=Quick%0D%16655ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SSPO	rs2074693	0.430911	0.3845	0.5892	1	0	0	intronic	intronic	ncRNA_intronic	SSPO	SSPO	ENSG00000197558	Na	Na	Na	Na	Na	Na	Het;C>G	602;22|30	Hom;C>G	866;0|34
N	N	-	7	149687123	149687123	A	G	snp	intergenic	 	 	 	 	AC092681.1																		rs4077601	0.294129	0	0	1	0	0	intergenic	intergenic	intergenic	ATP6V0E2(dist=109322),ACTR3C(dist=257178)	DQ590227(dist=107935),AL162052(dist=49134)	ENSG00000224016(dist=80330),ENSG00000260555(dist=10718)	Na	Na	Na	Na	Na	Na	Het;A>G	359;24|19	Hom;A>G	846;2|34
N	N	-	7	149687249	149687249	G	C	snp	intergenic	 	 	 	 	AC092681.1																		rs4077602	0.293331	0	0	1	0	0	intergenic	intergenic	intergenic	ATP6V0E2(dist=109448),ACTR3C(dist=257052)	DQ590227(dist=108061),AL162052(dist=49008)	ENSG00000224016(dist=80456),ENSG00000260555(dist=10592)	Na	Na	Na	Na	Na	Na	Het;G>C	84;3|4	Hom;G>C	140;0|5
N	N	-	7	149736171	149736171	T	A	snp	upstream	 	 	 	 	AL162052																		rs55927331	0	0	0	1	0	0	intergenic	upstream	intergenic	ATP6V0E2(dist=158370),ACTR3C(dist=208130)	AL162052	ENSG00000260555(dist=33958),ENSG00000241449(dist=1439)	Na	Na	Na	Na	Na	Na	Het;T>A	88;1|5	Hom;T>A	106;0|5
N	N	-	7	149736211	149736211	T	C	snp	upstream	 	 	 	 	AL162052																		rs56087082	0.497804	0	0	1	0	0	intergenic	upstream	intergenic	ATP6V0E2(dist=158410),ACTR3C(dist=208090)	AL162052	ENSG00000260555(dist=33998),ENSG00000241449(dist=1399)	Na	Na	Na	Na	Na	Na	Het;T>C	138;1|7	Hom;T>C	113;0|5
N	N	-	7	150107108	150107108	G	C	snp	ncRNA_intronic	 	 	 	 	LOC728743																		rs117324423	0.0297524	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC728743	LOC728743	ENSG00000196456(dist=11389),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>C	151;5|5	Hom;G>C	262;0|7
N	N	-	7	150108317	150108317	G	A	snp	ncRNA_exonic	 	 	 	 	LOC728743																		rs3800785	0.63119	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC728743	LOC728743	ENSG00000196456(dist=12598),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	925;51|45	Hom;G>A	2275;1|80
N	N	-	7	150108534	150108534	G	A	snp	ncRNA_exonic	 	 	 	 	LOC728743																		rs4527794	0.633387	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC728743	LOC728743	ENSG00000196456(dist=12815),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	1366;68|61	Hom;G>A	5918;0|133
N	N	-	7	150109072	150109072	G	C	snp	ncRNA_exonic	 	 	 	 	LOC728743																		rs7797680	0.652157	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC728743	LOC728743	ENSG00000196456(dist=13353),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>C	2862;107|84	Hom;G>C	6945;2|161
N	N	-	7	150109094	150109094	C	T	snp	ncRNA_exonic	 	 	 	 	LOC728743																		rs7797416	0.633387	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC728743	LOC728743	ENSG00000196456(dist=13375),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;C>T	2795;108|79	Hom;C>T	6868;0|164
N	N	-	7	150139702	150139702	C	A	snp	ncRNA_exonic	 	 	 	 	LINC00996																		rs6464063	0.549121	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00996	LOC285972	ENSG00000242258	Na	Na	Na	Na	Na	Na	Het;C>A	1594;61|70	Hom;C>A	2815;1|106
N	N	-	7	150692444	150692444	G	A	snp	intronic	 	 	 	 	NOS3	Nos3	ENSG00000164867	nitric oxide synthase 3	chr7:150688083-150711676	Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]	cholesterol, LDL; hypertension; C-reactive protein; fibrinogen; homocysteine; white blood cell count; thrombosis; Behcet's Disease; cluster headache; Hypertension|Myocardial Ischemia; Meningeal Neoplasms|meningioma; Hypercholesterolemia|LDLC levels; vasodilation; chronic obstructive pulmonary disease; Abortion, Habitual|Abortion, Spontaneous; Acute Coronary Syndrome; cirrhosis, biliary primary; high altitude pulmonary edema; Alzheimer's disease; Stroke; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Coronary Disease|Coronary heart disease; carotid atherosclerosis; systemic sclerosis; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|; Cardiovascular Diseases|; hypnotizability-dependent vascular response to nociceptive stimulation; atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypercholesterolemia hypertension hypertriglyceridemia obesity stroke; cervical intraepithelial neoplasia grade 3; Preeclampsia; atherosclerosis, coronary; hypertension; enuresis, primary nocturnal; lymphoma lymphoma, non-Hodgkin; Syncope, Vasovagal; Schizophrenia; coronary artery disease; myocardial infarction; Brain Infarction|; Acute Coronary Syndrome|Coronary Disease; Migraine; Essential Hypertension; retinopathy, diabetic; hyperhomocystinemia; Buerger's disease; inflammatory markers; Cerebral Palsy|; familial hypercholesterolemia; thromboembolism, venous; hypertension; blood pressure, arterial; kidney transplant; Crohn's disease ulcerative colitis; Kidney Failure, Chronic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; altitude adaptation; Osteoporosis, Postmenopausal; nephropathy, IgA; Arthritis, Rheumatoid|Myocardial Ischemia; Brain Ischemia|Intracranial Arterial Diseases|Stroke; posttransplantation erythrocytosis; Diabetes Mellitus, Type 2|Hypertension|Kidney Failure, Chronic; Coronary Artery Disease|Hypertension|Renal Artery Obstruction; Spinal Dysraphism; renal graft function; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Angina Pectoris, Variant; pregnancy loss, recurrent; nephropathy; placental abruption; abdominal aortic aneurysm; Down Syndrome|Heart Defects, Congenital|Hypertension, Pulmonary; Coronary Artery Disease|Inflammation; Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn; HIV; hypertension; nephrotic syndrome; atherosclerosis; myocardial infarct; hyperglycemia; Infection|Inflammation|Premature Birth; cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols; Nephrosis, Lipoid; Bone necrosis|Jaw Diseases|Neuralgia|Osteonecrosis; myocardial infarct; heart disease, ischemic; atherosclerosis, coronary; lupus erythematosus; nephropathy in other diseases; brain aneurysm brain hemorrhage; Heart Defects, Congenital; Abruptio Placentae|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; methotrexate toxicity; Behcet's disease; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Endometriosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; elite athletes; atrial fibrillation; albuminuria blood pressure, arterial body mass endothelial function glucose lipids metabolic syndrome renal function; bladder cancer; Carotid Artery Diseases; slow coronary flow; heart disease, ischemic; neuropathy; coronary in-stent restenosis.; Glomerulonephritis, IGA; Migraine Disorders|Stroke; Heterogeneity in hand veins responses to acetylcholine; Diabetic Nephropathies; renal graft survival ; Brain Ischemia|Stroke; Abortion, Habitual; Diabetes Complications|Diabetic Angiopathies|Diabetic Foot|Syndrome|Vascular Diseases; Diabetes Mellitus, Type 2|Diabetic Retinopathy; Subarachnoid Hemorrhage; blood flow; vascular response; oxidative stress; nitirc oxide production; nitric oxide-mediated effect on resistance vessels; fibromyalgia; endothelium-dependent arterial dilation; endothelial nitric oxide activity; Acute Coronary Syndrome|; diabetes, type 2; non-Hodgkin lymphoma; diabetes, type 1 ; Brain Neoplasms|Occupational Diseases; chronic obstructive pulmonary disease/COPD; migraine with aura; hypertension, cirrhotic portal; insulin resistance; blood pressure, arterial; left ventricular mass; peritoneal transport; HIV Infections|Lipodystrophy; Hypertension, Pregnancy-Induced|Pre-Eclampsia; Cerebral Palsy; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; bipolar disorder; coronary heart disease; nephropathy, diabetic; osteomyelitis; thrombosis, vascular access; high altitude adaptation; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; cardiopulmonary disease; coronary vasomotor function; acute coronary syndrome; menopause; prostate cancer prostatic hyperplasia; intracranial aneurysm; hypertension; nephrotic syndrome; Parkinson's disease ; Type 2 Diabetes| edema | rosiglitazone; Erythema Nodosum|Sarcoidosis; kidney dysfunction; periodontal disease; vessel stenosis; Atherosclerosis|Hypopituitarism; esophageal adenocarcinoma; insulin; glaucoma; glaucoma, primary open-angle; diabetes, type 2 erectile dysfunction; pharmacogenetic studies; arterial disease; pulse pressure; hematology indices; Alopecia Areata|; cognitive impairment; Ischemia|Stroke; Bacteremia|Escherichia coli Infections|Gram-Positive Bacterial Infections|Hypotension; Hepatopulmonary Syndrome|Liver Cirrhosis; Coronary Artery Disease|Coronary Artery Vasospasm|Coronary Vasospasm|Recurrence; angina, vasospastic; cardiovascular disease risk; hypertension left ventricular hypertrophy; hypertension, pregnancy induced preeclampsia; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; Atrial Fibrillation; hypertension; Retinopathy of Prematurity; peripheral vascular disease; Peripheral Vascular Diseases; Vertebral Artery Dissection; Chronic renal failure|Kidney Failure, Chronic; memory impairment; subarachnoid hemorrhage; atherosclerosis, carotid; lead toxicity; attention deficit disorder conduct disorder oppositional defiant disorder; bronchodilator response; atherosclerosis, coronary C-reactive protein; Obesity|Vascular Diseases; diabetes, type 1; Alzheimer's Disease; lupus erythematosus; brain aneurysm; pulmonary function; nitric oxide; Pseudomonas aeruginosa infection; lung cancer ; Heart Defects, Congenital|Spinal Dysraphism; blood nitrite oxidative stress; Sleep Apnea, Obstructive; Hypertension|Hypertrophy, Left Ventricular; Inflammation|Premature Birth; Coronary Occlusion|Coronary Stenosis|Diabetes Complications; atherosclerosis, coronary; hypertension; insulin; metabolic syndrome; hypertriglyceridemia; preeclampsia; restenosis; plasma HDL cholesterol (HDL-C) levels; bone density fracture risk; Brain Ischemia|Inflammation|Stroke; proliferative diabetic retinopathy.; sclerosis, systemic; kidney failure, chronic; homocystinuria; carotid intima-media thickness; weight loss; neural tube defects; menarche; menopause; Coronary Artery Disease|Hypertension; systemic lupus erythematosus ; Myocardial Infarction|Stroke; blood and blood forming organ disorders; Diabetes Mellitus, Type 2|Diabetic Nephropathies; Coronary Artery Disease; priapism; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced; duodenal ulcer; atherosclerosis, coronary; hypertension; Fabry's disease; myocardial infarction; atherosclerosis, coronary; atherosclerosis, carotid; Diabetic Retinopathy; Behcet's disease; vasculitis; Hyperemia; Femur Head Necrosis; prostate cancer; fetal loss, late; hypertension, pregnancy induced; Carotid Artery Diseases|; coronary artery disease; stroke, lacunar; leukoencephalopathy; creatinine kidney function lead toxicity; Aging/ Telomere Length; diabetes, type 2 retinopathy, diabetic; diabetes, type 2 hypertension; Erectile Dysfunction; Henoch-Schonlein purpura; vascular response; heart period signal; Diabetes Mellitus|Hypertension|Subarachnoid Hemorrhage; normal variation; nephropathy in other diseases; vasoconstriction, coronary; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Calcinosis; Cerebral Circulation in Smokers; purpura, Henoch-Schonlein; Coronary Disease|; Alzheimer's disease ; Asthma; nitric oxide; esophageal varices; Subarachnoid Hemorrhage|Vasospasm, Intracranial; Alzheimer's disease; Lewy body disease; Cardiovascular Diseases; acetylcholine responsiveness; plasma NO metabolite levels; Malaria|Malaria, Cerebral; Coronary Artery Disease|Erectile Dysfunction; Parkinson's disease; pulmonary artery pressure; Infertility, Male; Albuminuria|Inflammation|Kidney Diseases; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy; uric acid; thrombangiitis obliterans; end stage renal disease; blood pressure; cholesterol cholesterol, LDL fibrinogen lipoprotein myocardial infarct nitrate triglycerides; atherosclerosis, coronary endothelial function hypercholesterolemia lipids; Behcet Syndrome|Skin Diseases; Altitude Sickness|; Arthritis, Rheumatoid|Lupus Nephritis|Nephritis SLE|Rheumatoid Arthritis; renal disease; lung cancer; recurrent aphthous stomatitis; Coronary Heart Disease; hypertension; blood pressure; postural tachycardia syndrome; Hemifacial Spasm; Diabetes Complications|; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Hepatopulmonary Syndrome; Pre-Eclampsia; preeclampsia; hypertension, pregnancy induced; congestive heart failure; colorectal cancer; hypertension,response to exercise; neuropathy, non-arteritic ischaemic optic; Amyotrophic Lateral Sclerosis|; metabolic syndrome; Coronary Disease; pulmonary edema; several psychiatric disorders; Migraine Disorders; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; platelet aggregation; nitric oxide activity; coronary vasculopathy; carotid artery stenosis; preterm delivery; Recurrence|Venous Thromboembolism; heart disease; cleft lip with cleft palate; cleft lip without cleft palate; cleft lip; intracranial aneurysms; homocysteine; high-altitude pulmonary edema; Myocardial Infarction; primary open-angle glaucoma; glomerulonephritis, acute poststreptococcal; Venous Thrombosis; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Cardiovascular Pathology; diabetes, type 2; insulin; cardiovascular risk; 1-carbon metabolism; Scleroderma, Systemic|Systemic Scleroderma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; sickle cell anemia; cardiovascular; breast cancer; ovarian cancer; physical performance; kidney failure, chronic polycystic kidney disease; breast cancer ; allergy asthma; Atherosclerosis|Coronary Artery Disease|Diabetes Complications|Graft Occlusion, Vascular|Hyperinsulinism; Blood Coagulation Disorders|Osteonecrosis|Thrombophilia; cystic fibrosis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Proteinuria; Altitude Sickness; Sepsis|Systemic infection; Idiopathic Dilated Cardiomyopathy; enhanced vascular responsiveness to phenylephrine; arterial stiffness; preeclampsia; abruptio placentae; heart rate; Multiple Organ Failure|Respiratory Distress Syndrome, Adult|Sepsis; Apoplexy|Myocardial ischemia|Stroke; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Coronary Artery Disease|Hypercholesterolemia; end-stage renal disease; diabetic neuropathy; acute chest syndrome asthma; Chlamydia Infections|Inflammation|Trachoma; cerebral small-vessel disease; endothelial function; radiotoxicity; Albuminuria|Atherosclerosis|Heart Diseases|Hypertension; Polycystic Ovary Syndrome; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Retinopathy; Cardiovascular Diseases|Diabetes Mellitus|Kidney Diseases|Kidney Failure, Chronic; exhaled nitric oxide levels; Systemic Sclerosis; coronary artery vasomotility; Apoplexy|Stroke; diabetes, type 2; liver disease; kidney disease; limb deficiency defects; cardiac defects; retinopathy, diabetic; macular edema; atherosclerosis, generalized blood pressure, arterial cardiovascular disease; homocysteine, cholesterol and vascular endothelial function; cerebral white matter lesions; stroke; Osteoporosis; Fabry disease; brain hemorrhage; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Coronary Artery Disease|Myocardial Infarction; Carotid Artery Diseases|Vascular Diseases; diabetes, type 1; carotid artery damage; glaucoma; osteonecrosis; Heart Failure; diabetes, type 2 hypertension nitrite/nitrate concentrations; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; vascular disease; polycystic kidney disease; Aneurysm|Vasospasm, Intracranial; coronary spasm; essential hypertension; Sensation Disorders|Vestibular Diseases; endothelial function von Willebrand factor; Kidney Failure, Chronic|Vascular Diseases; Cardiomegaly|Microvascular Angina; coronary artery disease; nitric oxide; coronary stent outcome; Cardiovascular Diseases|Coronary Artery Disease; Lymphoma, Non-Hodgkin; gastroschisis; bone density; Heart Diseases|Hypercholesterolemia|Hypertension; stroke, ischemic; kawasaki disease; blood pressure; left ventricular mass; atherosclerosis, carotid; vasospastic angina associated; ulcer, duodenal; cholesterol cholesterol, LDL lipoprotein; Azoospermia|Infertility, Male; Coronary Artery Disease|Hyperparathyroidism, Primary; blood flow; Restenosis; coronary blood flow; vasodilation during pregnancy; asthma; endothelium dependent dilatation; cysclosporine toxicity; blood pressure, arterial cardiac output heart rate; Hypertension, Pregnancy-Induced; Birth Weight|Retinopathy of Prematurity; Pre-Eclampsia|Proteinuria; atherosclerosis, carotid intima media thickness; blood pressure, arterial homocysteine; Cardiovascular Diseases|Inflammation; cholesterol; cholesterol, HDL; triglycerides; atherosclerosis, coronary; cholesterol, LDL; pulmonary hypertension; cardiac death; tardive dyskinesia; endurance performance; Polycystic Kidney, Autosomal Dominant; high-altitude pulmonary edema.; smoking; coronary vasomotion; alcohol abuse; smoking behavior; renal function; body mass hypertension; oxidative stress ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; chronic renal failure; erectile dysfunction; blood pressure, arterial; carotid artery stenosis ; Asthma|; Diabetes Complications|Erectile Dysfunction|Hypogonadism; coronary atherosclerotic heart disease in Chinese; Alzheimer's disease; dementia; angina, unstable; Hypertension; cardiac index catecholamine support hemodynamics vascular resistance; Communicable Diseases|Severe Acute Respiratory Syndrome; Thrombosis; Aortic Aneurysm, Abdominal; Cellulitis|Obesity; suicide; diabetes, type 2; glucose tolerance; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; retinopathy, diabetic; nephropathy in other diseases; multiple sclerosis; achalasia; obesity; Antiphospholipid Syndrome|Cardiovascular Diseases|Lupus Erythematosus, Systemic; Brain Infarction; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Asthenozoospermia; Diabetic Angiopathies|Myocardial Ischemia; kidney transplant complications; left ventricular hypertrophy; blood flow; left ventricular function; cardiovascular disease; sickle cell disease; null; Migraine Disorders|Migraine with Aura; Hypertension, Renal; asthma; renal disease, end stage; Prehypertension; coronary heart disease; hypertension; myocardial infarction; cardiovascular disease; hemodialysis; coronary spasm.; myocardial infarct; atherosclerosis, coronary; cerebral vasospasm; blood pressure, arterial hypertension; Coronary Artery Disease|Diabetes Mellitus|Obesity; Inflammation|Venous Thromboembolism; atherosclerosis; angina; rheumatoid arthritis; giant cell arteritis; diabetic nephropathy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; vulvar cancer; cholesterol, LDL; blood pressure, arterial; nitric oxide production; salt sensitivity; diabetes, type 2; nephropathy; cerebral palsy; coronary artery disease; myocardial infarction; angina; HIV; left ventricular hypertrophy; atrial fibrillation homocysteine; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; diabetic nephropathy; polycystic kidney disease; cardiological syndrome X; heart anomalies, congenital; cognitive trait; Brain Ischemia|Hyperhomocysteinemia|Stroke; giant cell arteritis.; cerebral circulation; Biliary Tract Neoplasms|Inflammation; Atherosclerosis|Thrombosis; Atherosclerosis|Diabetes Complications|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myocardial Infarction; Cardiovascular Diseases|Dyslipidemias|Metabolic Syndrome X; Type 2 diabetes	Homozygotes for targeted null mutations exhibit reduced survival, hypertension, inhibited basal vasodilation, insulin resistance, fewer mitochondria, reduced heart rate, impaired ovulation and, in some, shortened limbs.	VEGFR2 mediated vascular permeability	GO:0001525;angiogenesis;IEA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0003057;regulation of the force of heart contraction by chemical signal;IEA|GO:0003100;regulation of systemic arterial blood pressure by endothelin;IMP|GO:0006527;arginine catabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IDA|GO:0007005;mitochondrion organization;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0008217;regulation of blood pressure;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009408;response to heat;NAS|GO:0010544;negative regulation of platelet activation;NAS|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0014806;smooth muscle hyperplasia;IEA|GO:0019430;removal of superoxide radicals;IDA|GO:0030324;lung development;IEA|GO:0031284;positive regulation of guanylate cyclase activity;IMP|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0034405;response to fluid shear stress;IEP|GO:0042311;vasodilation;NAS|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043542;endothelial cell migration;IMP|GO:0045454;cell redox homeostasis;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045776;negative regulation of blood pressure;IBA|GO:0050880;regulation of blood vessel size;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0051926;negative regulation of calcium ion transport;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:0001525;angiogenesis;IEA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0003057;regulation of the force of heart contraction by chemical signal;IEA|GO:0003100;regulation of systemic arterial blood pressure by endothelin;IMP|GO:0006527;arginine catabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IDA|GO:0007005;mitochondrion organization;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0008217;regulation of blood pressure;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009408;response to heat;NAS|GO:0010544;negative regulation of platelet activation;NAS|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0014806;smooth muscle hyperplasia;IEA|GO:0019430;removal of superoxide radicals;IDA|GO:0030324;lung development;IEA|GO:0031284;positive regulation of guanylate cyclase activity;IMP|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0034405;response to fluid shear stress;IEP|GO:0042311;vasodilation;NAS|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043542;endothelial cell migration;IMP|GO:0045454;cell redox homeostasis;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045776;negative regulation of blood pressure;IBA|GO:0050880;regulation of blood vessel size;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0051926;negative regulation of calcium ion transport;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0016020;membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0003785;actin monomer binding;IPI|GO:0003958;NADPH-hemoprotein reductase activity;IBA|GO:0004517;nitric-oxide synthase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0010181;FMN binding;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IDA|GO:0034617;tetrahydrobiopterin binding;IDA|GO:0034618;arginine binding;IDA|GO:0046870;cadmium ion binding;NAS|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;NAS|GO:0050661;NADP binding;NAS|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOS3	https://www.uniprot.org/uniprot/P29474		https://www.ncbi.nlm.nih.gov/omim/?term=163729	http://www.informatics.jax.org/searchtool/Search.do?query=NOS3&submit=Quick%0D%200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOS3	rs1800781	0.108427	0.1041	0.1420	1	0	0	intronic	intronic	intronic	NOS3	NOS3	ENSG00000164867	Na	Na	Na	Na	Na	Na	Het;G>A	365;17|18	Hom;G>A	1035;2|38
N	N	-	7	150704250	150704250	C	G	snp	synonymous SNV	C1380G	A460A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NOS3	Nos3	ENSG00000164867	nitric oxide synthase 3	chr7:150688083-150711676	Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]	cholesterol, LDL; hypertension; C-reactive protein; fibrinogen; homocysteine; white blood cell count; thrombosis; Behcet's Disease; cluster headache; Hypertension|Myocardial Ischemia; Meningeal Neoplasms|meningioma; Hypercholesterolemia|LDLC levels; vasodilation; chronic obstructive pulmonary disease; Abortion, Habitual|Abortion, Spontaneous; Acute Coronary Syndrome; cirrhosis, biliary primary; high altitude pulmonary edema; Alzheimer's disease; Stroke; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Coronary Disease|Coronary heart disease; carotid atherosclerosis; systemic sclerosis; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|; Cardiovascular Diseases|; hypnotizability-dependent vascular response to nociceptive stimulation; atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypercholesterolemia hypertension hypertriglyceridemia obesity stroke; cervical intraepithelial neoplasia grade 3; Preeclampsia; atherosclerosis, coronary; hypertension; enuresis, primary nocturnal; lymphoma lymphoma, non-Hodgkin; Syncope, Vasovagal; Schizophrenia; coronary artery disease; myocardial infarction; Brain Infarction|; Acute Coronary Syndrome|Coronary Disease; Migraine; Essential Hypertension; retinopathy, diabetic; hyperhomocystinemia; Buerger's disease; inflammatory markers; Cerebral Palsy|; familial hypercholesterolemia; thromboembolism, venous; hypertension; blood pressure, arterial; kidney transplant; Crohn's disease ulcerative colitis; Kidney Failure, Chronic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; altitude adaptation; Osteoporosis, Postmenopausal; nephropathy, IgA; Arthritis, Rheumatoid|Myocardial Ischemia; Brain Ischemia|Intracranial Arterial Diseases|Stroke; posttransplantation erythrocytosis; Diabetes Mellitus, Type 2|Hypertension|Kidney Failure, Chronic; Coronary Artery Disease|Hypertension|Renal Artery Obstruction; Spinal Dysraphism; renal graft function; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Angina Pectoris, Variant; pregnancy loss, recurrent; nephropathy; placental abruption; abdominal aortic aneurysm; Down Syndrome|Heart Defects, Congenital|Hypertension, Pulmonary; Coronary Artery Disease|Inflammation; Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn; HIV; hypertension; nephrotic syndrome; atherosclerosis; myocardial infarct; hyperglycemia; Infection|Inflammation|Premature Birth; cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols; Nephrosis, Lipoid; Bone necrosis|Jaw Diseases|Neuralgia|Osteonecrosis; myocardial infarct; heart disease, ischemic; atherosclerosis, coronary; lupus erythematosus; nephropathy in other diseases; brain aneurysm brain hemorrhage; Heart Defects, Congenital; Abruptio Placentae|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; methotrexate toxicity; Behcet's disease; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Endometriosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; elite athletes; atrial fibrillation; albuminuria blood pressure, arterial body mass endothelial function glucose lipids metabolic syndrome renal function; bladder cancer; Carotid Artery Diseases; slow coronary flow; heart disease, ischemic; neuropathy; coronary in-stent restenosis.; Glomerulonephritis, IGA; Migraine Disorders|Stroke; Heterogeneity in hand veins responses to acetylcholine; Diabetic Nephropathies; renal graft survival ; Brain Ischemia|Stroke; Abortion, Habitual; Diabetes Complications|Diabetic Angiopathies|Diabetic Foot|Syndrome|Vascular Diseases; Diabetes Mellitus, Type 2|Diabetic Retinopathy; Subarachnoid Hemorrhage; blood flow; vascular response; oxidative stress; nitirc oxide production; nitric oxide-mediated effect on resistance vessels; fibromyalgia; endothelium-dependent arterial dilation; endothelial nitric oxide activity; Acute Coronary Syndrome|; diabetes, type 2; non-Hodgkin lymphoma; diabetes, type 1 ; Brain Neoplasms|Occupational Diseases; chronic obstructive pulmonary disease/COPD; migraine with aura; hypertension, cirrhotic portal; insulin resistance; blood pressure, arterial; left ventricular mass; peritoneal transport; HIV Infections|Lipodystrophy; Hypertension, Pregnancy-Induced|Pre-Eclampsia; Cerebral Palsy; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; bipolar disorder; coronary heart disease; nephropathy, diabetic; osteomyelitis; thrombosis, vascular access; high altitude adaptation; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; cardiopulmonary disease; coronary vasomotor function; acute coronary syndrome; menopause; prostate cancer prostatic hyperplasia; intracranial aneurysm; hypertension; nephrotic syndrome; Parkinson's disease ; Type 2 Diabetes| edema | rosiglitazone; Erythema Nodosum|Sarcoidosis; kidney dysfunction; periodontal disease; vessel stenosis; Atherosclerosis|Hypopituitarism; esophageal adenocarcinoma; insulin; glaucoma; glaucoma, primary open-angle; diabetes, type 2 erectile dysfunction; pharmacogenetic studies; arterial disease; pulse pressure; hematology indices; Alopecia Areata|; cognitive impairment; Ischemia|Stroke; Bacteremia|Escherichia coli Infections|Gram-Positive Bacterial Infections|Hypotension; Hepatopulmonary Syndrome|Liver Cirrhosis; Coronary Artery Disease|Coronary Artery Vasospasm|Coronary Vasospasm|Recurrence; angina, vasospastic; cardiovascular disease risk; hypertension left ventricular hypertrophy; hypertension, pregnancy induced preeclampsia; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; Atrial Fibrillation; hypertension; Retinopathy of Prematurity; peripheral vascular disease; Peripheral Vascular Diseases; Vertebral Artery Dissection; Chronic renal failure|Kidney Failure, Chronic; memory impairment; subarachnoid hemorrhage; atherosclerosis, carotid; lead toxicity; attention deficit disorder conduct disorder oppositional defiant disorder; bronchodilator response; atherosclerosis, coronary C-reactive protein; Obesity|Vascular Diseases; diabetes, type 1; Alzheimer's Disease; lupus erythematosus; brain aneurysm; pulmonary function; nitric oxide; Pseudomonas aeruginosa infection; lung cancer ; Heart Defects, Congenital|Spinal Dysraphism; blood nitrite oxidative stress; Sleep Apnea, Obstructive; Hypertension|Hypertrophy, Left Ventricular; Inflammation|Premature Birth; Coronary Occlusion|Coronary Stenosis|Diabetes Complications; atherosclerosis, coronary; hypertension; insulin; metabolic syndrome; hypertriglyceridemia; preeclampsia; restenosis; plasma HDL cholesterol (HDL-C) levels; bone density fracture risk; Brain Ischemia|Inflammation|Stroke; proliferative diabetic retinopathy.; sclerosis, systemic; kidney failure, chronic; homocystinuria; carotid intima-media thickness; weight loss; neural tube defects; menarche; menopause; Coronary Artery Disease|Hypertension; systemic lupus erythematosus ; Myocardial Infarction|Stroke; blood and blood forming organ disorders; Diabetes Mellitus, Type 2|Diabetic Nephropathies; Coronary Artery Disease; priapism; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced; duodenal ulcer; atherosclerosis, coronary; hypertension; Fabry's disease; myocardial infarction; atherosclerosis, coronary; atherosclerosis, carotid; Diabetic Retinopathy; Behcet's disease; vasculitis; Hyperemia; Femur Head Necrosis; prostate cancer; fetal loss, late; hypertension, pregnancy induced; Carotid Artery Diseases|; coronary artery disease; stroke, lacunar; leukoencephalopathy; creatinine kidney function lead toxicity; Aging/ Telomere Length; diabetes, type 2 retinopathy, diabetic; diabetes, type 2 hypertension; Erectile Dysfunction; Henoch-Schonlein purpura; vascular response; heart period signal; Diabetes Mellitus|Hypertension|Subarachnoid Hemorrhage; normal variation; nephropathy in other diseases; vasoconstriction, coronary; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Calcinosis; Cerebral Circulation in Smokers; purpura, Henoch-Schonlein; Coronary Disease|; Alzheimer's disease ; Asthma; nitric oxide; esophageal varices; Subarachnoid Hemorrhage|Vasospasm, Intracranial; Alzheimer's disease; Lewy body disease; Cardiovascular Diseases; acetylcholine responsiveness; plasma NO metabolite levels; Malaria|Malaria, Cerebral; Coronary Artery Disease|Erectile Dysfunction; Parkinson's disease; pulmonary artery pressure; Infertility, Male; Albuminuria|Inflammation|Kidney Diseases; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy; uric acid; thrombangiitis obliterans; end stage renal disease; blood pressure; cholesterol cholesterol, LDL fibrinogen lipoprotein myocardial infarct nitrate triglycerides; atherosclerosis, coronary endothelial function hypercholesterolemia lipids; Behcet Syndrome|Skin Diseases; Altitude Sickness|; Arthritis, Rheumatoid|Lupus Nephritis|Nephritis SLE|Rheumatoid Arthritis; renal disease; lung cancer; recurrent aphthous stomatitis; Coronary Heart Disease; hypertension; blood pressure; postural tachycardia syndrome; Hemifacial Spasm; Diabetes Complications|; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Hepatopulmonary Syndrome; Pre-Eclampsia; preeclampsia; hypertension, pregnancy induced; congestive heart failure; colorectal cancer; hypertension,response to exercise; neuropathy, non-arteritic ischaemic optic; Amyotrophic Lateral Sclerosis|; metabolic syndrome; Coronary Disease; pulmonary edema; several psychiatric disorders; Migraine Disorders; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; platelet aggregation; nitric oxide activity; coronary vasculopathy; carotid artery stenosis; preterm delivery; Recurrence|Venous Thromboembolism; heart disease; cleft lip with cleft palate; cleft lip without cleft palate; cleft lip; intracranial aneurysms; homocysteine; high-altitude pulmonary edema; Myocardial Infarction; primary open-angle glaucoma; glomerulonephritis, acute poststreptococcal; Venous Thrombosis; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Cardiovascular Pathology; diabetes, type 2; insulin; cardiovascular risk; 1-carbon metabolism; Scleroderma, Systemic|Systemic Scleroderma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; sickle cell anemia; cardiovascular; breast cancer; ovarian cancer; physical performance; kidney failure, chronic polycystic kidney disease; breast cancer ; allergy asthma; Atherosclerosis|Coronary Artery Disease|Diabetes Complications|Graft Occlusion, Vascular|Hyperinsulinism; Blood Coagulation Disorders|Osteonecrosis|Thrombophilia; cystic fibrosis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Proteinuria; Altitude Sickness; Sepsis|Systemic infection; Idiopathic Dilated Cardiomyopathy; enhanced vascular responsiveness to phenylephrine; arterial stiffness; preeclampsia; abruptio placentae; heart rate; Multiple Organ Failure|Respiratory Distress Syndrome, Adult|Sepsis; Apoplexy|Myocardial ischemia|Stroke; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Coronary Artery Disease|Hypercholesterolemia; end-stage renal disease; diabetic neuropathy; acute chest syndrome asthma; Chlamydia Infections|Inflammation|Trachoma; cerebral small-vessel disease; endothelial function; radiotoxicity; Albuminuria|Atherosclerosis|Heart Diseases|Hypertension; Polycystic Ovary Syndrome; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Retinopathy; Cardiovascular Diseases|Diabetes Mellitus|Kidney Diseases|Kidney Failure, Chronic; exhaled nitric oxide levels; Systemic Sclerosis; coronary artery vasomotility; Apoplexy|Stroke; diabetes, type 2; liver disease; kidney disease; limb deficiency defects; cardiac defects; retinopathy, diabetic; macular edema; atherosclerosis, generalized blood pressure, arterial cardiovascular disease; homocysteine, cholesterol and vascular endothelial function; cerebral white matter lesions; stroke; Osteoporosis; Fabry disease; brain hemorrhage; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Coronary Artery Disease|Myocardial Infarction; Carotid Artery Diseases|Vascular Diseases; diabetes, type 1; carotid artery damage; glaucoma; osteonecrosis; Heart Failure; diabetes, type 2 hypertension nitrite/nitrate concentrations; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; vascular disease; polycystic kidney disease; Aneurysm|Vasospasm, Intracranial; coronary spasm; essential hypertension; Sensation Disorders|Vestibular Diseases; endothelial function von Willebrand factor; Kidney Failure, Chronic|Vascular Diseases; Cardiomegaly|Microvascular Angina; coronary artery disease; nitric oxide; coronary stent outcome; Cardiovascular Diseases|Coronary Artery Disease; Lymphoma, Non-Hodgkin; gastroschisis; bone density; Heart Diseases|Hypercholesterolemia|Hypertension; stroke, ischemic; kawasaki disease; blood pressure; left ventricular mass; atherosclerosis, carotid; vasospastic angina associated; ulcer, duodenal; cholesterol cholesterol, LDL lipoprotein; Azoospermia|Infertility, Male; Coronary Artery Disease|Hyperparathyroidism, Primary; blood flow; Restenosis; coronary blood flow; vasodilation during pregnancy; asthma; endothelium dependent dilatation; cysclosporine toxicity; blood pressure, arterial cardiac output heart rate; Hypertension, Pregnancy-Induced; Birth Weight|Retinopathy of Prematurity; Pre-Eclampsia|Proteinuria; atherosclerosis, carotid intima media thickness; blood pressure, arterial homocysteine; Cardiovascular Diseases|Inflammation; cholesterol; cholesterol, HDL; triglycerides; atherosclerosis, coronary; cholesterol, LDL; pulmonary hypertension; cardiac death; tardive dyskinesia; endurance performance; Polycystic Kidney, Autosomal Dominant; high-altitude pulmonary edema.; smoking; coronary vasomotion; alcohol abuse; smoking behavior; renal function; body mass hypertension; oxidative stress ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; chronic renal failure; erectile dysfunction; blood pressure, arterial; carotid artery stenosis ; Asthma|; Diabetes Complications|Erectile Dysfunction|Hypogonadism; coronary atherosclerotic heart disease in Chinese; Alzheimer's disease; dementia; angina, unstable; Hypertension; cardiac index catecholamine support hemodynamics vascular resistance; Communicable Diseases|Severe Acute Respiratory Syndrome; Thrombosis; Aortic Aneurysm, Abdominal; Cellulitis|Obesity; suicide; diabetes, type 2; glucose tolerance; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; retinopathy, diabetic; nephropathy in other diseases; multiple sclerosis; achalasia; obesity; Antiphospholipid Syndrome|Cardiovascular Diseases|Lupus Erythematosus, Systemic; Brain Infarction; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Asthenozoospermia; Diabetic Angiopathies|Myocardial Ischemia; kidney transplant complications; left ventricular hypertrophy; blood flow; left ventricular function; cardiovascular disease; sickle cell disease; null; Migraine Disorders|Migraine with Aura; Hypertension, Renal; asthma; renal disease, end stage; Prehypertension; coronary heart disease; hypertension; myocardial infarction; cardiovascular disease; hemodialysis; coronary spasm.; myocardial infarct; atherosclerosis, coronary; cerebral vasospasm; blood pressure, arterial hypertension; Coronary Artery Disease|Diabetes Mellitus|Obesity; Inflammation|Venous Thromboembolism; atherosclerosis; angina; rheumatoid arthritis; giant cell arteritis; diabetic nephropathy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; vulvar cancer; cholesterol, LDL; blood pressure, arterial; nitric oxide production; salt sensitivity; diabetes, type 2; nephropathy; cerebral palsy; coronary artery disease; myocardial infarction; angina; HIV; left ventricular hypertrophy; atrial fibrillation homocysteine; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; diabetic nephropathy; polycystic kidney disease; cardiological syndrome X; heart anomalies, congenital; cognitive trait; Brain Ischemia|Hyperhomocysteinemia|Stroke; giant cell arteritis.; cerebral circulation; Biliary Tract Neoplasms|Inflammation; Atherosclerosis|Thrombosis; Atherosclerosis|Diabetes Complications|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myocardial Infarction; Cardiovascular Diseases|Dyslipidemias|Metabolic Syndrome X; Type 2 diabetes	Homozygotes for targeted null mutations exhibit reduced survival, hypertension, inhibited basal vasodilation, insulin resistance, fewer mitochondria, reduced heart rate, impaired ovulation and, in some, shortened limbs.	VEGFR2 mediated vascular permeability	GO:0001525;angiogenesis;IEA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0003057;regulation of the force of heart contraction by chemical signal;IEA|GO:0003100;regulation of systemic arterial blood pressure by endothelin;IMP|GO:0006527;arginine catabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IDA|GO:0007005;mitochondrion organization;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0008217;regulation of blood pressure;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009408;response to heat;NAS|GO:0010544;negative regulation of platelet activation;NAS|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0014806;smooth muscle hyperplasia;IEA|GO:0019430;removal of superoxide radicals;IDA|GO:0030324;lung development;IEA|GO:0031284;positive regulation of guanylate cyclase activity;IMP|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0034405;response to fluid shear stress;IEP|GO:0042311;vasodilation;NAS|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043542;endothelial cell migration;IMP|GO:0045454;cell redox homeostasis;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045776;negative regulation of blood pressure;IBA|GO:0050880;regulation of blood vessel size;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0051926;negative regulation of calcium ion transport;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:0001525;angiogenesis;IEA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0003057;regulation of the force of heart contraction by chemical signal;IEA|GO:0003100;regulation of systemic arterial blood pressure by endothelin;IMP|GO:0006527;arginine catabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IDA|GO:0007005;mitochondrion organization;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0008217;regulation of blood pressure;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009408;response to heat;NAS|GO:0010544;negative regulation of platelet activation;NAS|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0014806;smooth muscle hyperplasia;IEA|GO:0019430;removal of superoxide radicals;IDA|GO:0030324;lung development;IEA|GO:0031284;positive regulation of guanylate cyclase activity;IMP|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0034405;response to fluid shear stress;IEP|GO:0042311;vasodilation;NAS|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043542;endothelial cell migration;IMP|GO:0045454;cell redox homeostasis;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045776;negative regulation of blood pressure;IBA|GO:0050880;regulation of blood vessel size;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0051346;negative regulation of hydrolase activity;IEA|GO:0051926;negative regulation of calcium ion transport;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS	GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0016020;membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0003785;actin monomer binding;IPI|GO:0003958;NADPH-hemoprotein reductase activity;IBA|GO:0004517;nitric-oxide synthase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0010181;FMN binding;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IDA|GO:0034617;tetrahydrobiopterin binding;IDA|GO:0034618;arginine binding;IDA|GO:0046870;cadmium ion binding;NAS|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;NAS|GO:0050661;NADP binding;NAS|GO:0097110;scaffold protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NOS3	https://www.uniprot.org/uniprot/P29474		https://www.ncbi.nlm.nih.gov/omim/?term=163729	http://www.informatics.jax.org/searchtool/Search.do?query=NOS3&submit=Quick%0D%200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOS3	rs2566514	0.43131	0.3332	0.3414	1	0	0	exonic	exonic	exonic	NOS3	NOS3	ENSG00000164867	synonymous SNV	synonymous SNV	unknown	NOS3:NM_000603:exon17:c.C1998G:p.A666A,	NOS3:uc011kuy.2:exon14:c.C1380G:p.A460A,NOS3:uc003wif.3:exon17:c.C1998G:p.A666A,	UNKNOWN	Het;C>G	1693;92|79	Hom;C>G	3441;1|130
N	N	-	7	150731338	150731338	G	C	snp	intronic	 	 	 	 	ABCB8	Abcb8	ENSG00000197150	ATP binding cassette subfamily B member 8	chr7:150725510-150744869	This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Tobacco Use Disorder; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression	Inducible cardiac specific deletion results in mild cardiomyopathy, mitochondrial defects and elevated heart mitochondrial iron levels.	Mitochondrial ABC transporters	GO:0006810;transport;TAS|GO:0055085;transmembrane transport;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005740;mitochondrial envelope;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABCB8			https://www.ncbi.nlm.nih.gov/omim/?term=605464	http://www.informatics.jax.org/searchtool/Search.do?query=ABCB8&submit=Quick%0D%16559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB8	rs2303923	0.736222	0.7131	0.6705	1	0	0	intronic	intronic	intronic	ABCB8	ABCB8	ENSG00000197150	Na	Na	Na	Na	Na	Na	Het;G>C	197;16|8	Hom;G>C	729;0|26
N	N	-	7	150739330	150739330	G	C	snp	intronic	 	 	 	 	ABCB8	Abcb8	ENSG00000197150	ATP binding cassette subfamily B member 8	chr7:150725510-150744869	This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Tobacco Use Disorder; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression	Inducible cardiac specific deletion results in mild cardiomyopathy, mitochondrial defects and elevated heart mitochondrial iron levels.	Mitochondrial ABC transporters	GO:0006810;transport;TAS|GO:0055085;transmembrane transport;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005740;mitochondrial envelope;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABCB8			https://www.ncbi.nlm.nih.gov/omim/?term=605464	http://www.informatics.jax.org/searchtool/Search.do?query=ABCB8&submit=Quick%0D%16559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB8	rs2303928	0.715455	0	0	1	0	0	intronic	intronic	intronic	ABCB8	ABCB8	ENSG00000197150	Na	Na	Na	Na	Na	Na	Het;G>C	271;6|9	Hom;G>C	522;0|18
N	N	-	7	150747746	150747746	A	G	snp	intronic	 	 	 	 	ASIC3	Asic3	ENSG00000213199	acid sensing ion channel subunit 3	chr7:150745379-150749843	This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]	Insulin Resistance; Hypertension	Homozygotes for targeted null mutations exhibit reduced latency to onset of pain responses, increased sensitivity to light touch, but decreased sensitivity to noxious pinch and responses of acid- and noxious heat-sensitive nociceptors.	Stimuli-sensing channels	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0007600;sensory perception;TAS|GO:0009408;response to heat;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0010447;response to acidic pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042930;enterobactin transport;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050961;detection of temperature stimulus involved in sensory perception;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0050968;detection of chemical stimulus involved in sensory perception of pain;IEA|GO:0050974;detection of mechanical stimulus involved in sensory perception;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;TAS|GO:0005272;sodium channel activity;TAS|GO:0015280;ligand-gated sodium channel activity;IEA|GO:0030165;PDZ domain binding;IEA|GO:0042931;enterobactin transporter activity;IEA|GO:0044736;acid-sensing ion channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ASIC3			https://www.ncbi.nlm.nih.gov/omim/?term=611741	http://www.informatics.jax.org/searchtool/Search.do?query=ASIC3&submit=Quick%0D%18097ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASIC3	rs2288645	0.846645	0.8446	0.8248	1	0	0	intronic	intronic	intronic	ASIC3	ASIC3	ENSG00000213199	Na	Na	Na	Na	Na	Na	Het;A>G	805;42|37	Hom;A>G	1504;1|57
N	N	-	7	1514107	1514107	A	AAC	indel	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs10639379	0	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;+AC	78;2|2	Hom;+AC	98;0|3
N	N	-	7	1516129	1516129	G	GCCTCTCCCGGATGGGCCACCC	indel	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs780550157	0	0.3159	0.0083	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;+CCTCTCCCGGATGGGCCACCC	80;4|3	Hom;+CCTCTCCCGGATGGGCCACCC	169;0|3
N	N	-	7	151702758	151702758	A	C	snp	intronic	 	 	 	 	GALNTL5	Galntl5	ENSG00000106648	polypeptide N-acetylgalactosaminyltransferase-like 5	chr7:151653464-151717019	polypeptide N-acetylgalactosaminyltransferase-like protein 5 (GALNTL5), belongs to the polypeptide N-acetylgalactosamine-transferase (pp-GalNAc-T) gene family because of its conserved glycosyltransferase domains, but it uniquely truncates the C-terminal domain and is expressed exclusively in human testis. GALNTL5 localizes in the cytoplasm of round spermatids in the region around the acrosome of elongating spermatids, and finally in the neck region of spermatozoa. Genetic mutation of human GALNTL5 results in male infertility with the reduction of sperm motility and that GALNTL5 is a functional molecule essential for mammalian sperm formation		Male heterozygous mice for this allele were infertile due to decreased sperm motility.	O-linked glycosylation of mucins	GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IMP|GO:0030154;cell differentiation;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IMP|GO:0030154;cell differentiation;IEA	GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA	GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALNTL5	https://www.uniprot.org/uniprot/Q7Z4T8		https://www.ncbi.nlm.nih.gov/omim/?term=615133	http://www.informatics.jax.org/searchtool/Search.do?query=GALNTL5&submit=Quick%0D%37ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNTL5	rs28588502	0.318091	0	0	1	0	0	intronic	intronic	intronic	GALNTL5	GALNTL5	ENSG00000106648	Na	Na	Na	Na	Na	Na	Het;A>C	93;3|6	Hom;A>C	254;0|10
N	N	-	7	152442491	152442491	G	A	snp	intergenic	 	 	 	 	RN7SL811P																		rs73488885	0.0539137	0	0	1	0	0	intergenic	intergenic	intergenic	XRCC2(dist=69241),ACTR3B(dist=14343)	XRCC2(dist=69241),ACTR3B(dist=14343)	ENSG00000265439(dist=6676),ENSG00000214003(dist=3673)	Na	Na	Na	Na	Na	Na	Het;G>A	35;2|2	Hom;G>A	71;0|4
N	N	-	7	1526181	1526181	G	A	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs6969991	0.575879	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;G>A	135;21|9	Hom;G>A	842;0|28
N	N	-	7	152752343	152752343	G	C	snp	intergenic	 	 	 	 	ACTR3B	Actr3b	ENSG00000133627	ARP3 actin related protein 3 homolog B	chr7:152456834-152552463	This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]	Myocardial Infarction; Bipolar Disorder; Lipoproteins; Metabolism; Heart Failure; Tobacco Use Disorder	 		GO:0007015;actin filament organization;IEA|GO:0008150;biological_process;ND|GO:0034314;Arp2/3 complex-mediated actin nucleation;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTR3B	https://www.uniprot.org/uniprot/Q9P1U1			http://www.informatics.jax.org/searchtool/Search.do?query=ACTR3B&submit=Quick%0D%6850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR3B	rs760219	0.642372	0	0	1	0	0	intergenic	intergenic	intergenic	ACTR3B(dist=199879),LINC01287(dist=344661)	ACTR3B(dist=199879),DPP6(dist=832076)	ENSG00000133627(dist=199880),ENSG00000265275(dist=1479)	Na	Na	Na	Na	Na	Na	Het;G>C	95;1|3	Hom;G>C	197;0|5
N	N	-	7	152752353	152752353	G	A	snp	intergenic	 	 	 	 	ACTR3B	Actr3b	ENSG00000133627	ARP3 actin related protein 3 homolog B	chr7:152456834-152552463	This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]	Myocardial Infarction; Bipolar Disorder; Lipoproteins; Metabolism; Heart Failure; Tobacco Use Disorder	 		GO:0007015;actin filament organization;IEA|GO:0008150;biological_process;ND|GO:0034314;Arp2/3 complex-mediated actin nucleation;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTR3B	https://www.uniprot.org/uniprot/Q9P1U1			http://www.informatics.jax.org/searchtool/Search.do?query=ACTR3B&submit=Quick%0D%6850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR3B	rs760220	0.577476	0	0	1	0	0	intergenic	intergenic	intergenic	ACTR3B(dist=199889),LINC01287(dist=344651)	ACTR3B(dist=199889),DPP6(dist=832066)	ENSG00000133627(dist=199890),ENSG00000265275(dist=1469)	Na	Na	Na	Na	Na	Na	Het;G>A	194;2|6	Hom;G>A	197;0|5
N	N	-	7	152752465	152752468	TCTC	T	indel	intergenic	 	 	 	 	ACTR3B	Actr3b	ENSG00000133627	ARP3 actin related protein 3 homolog B	chr7:152456834-152552463	This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]	Myocardial Infarction; Bipolar Disorder; Lipoproteins; Metabolism; Heart Failure; Tobacco Use Disorder	 		GO:0007015;actin filament organization;IEA|GO:0008150;biological_process;ND|GO:0034314;Arp2/3 complex-mediated actin nucleation;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTR3B	https://www.uniprot.org/uniprot/Q9P1U1			http://www.informatics.jax.org/searchtool/Search.do?query=ACTR3B&submit=Quick%0D%6850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR3B	rs35971392	0.709465	0	0	1	0	0	intergenic	intergenic	intergenic	ACTR3B(dist=200001),LINC01287(dist=344536)	ACTR3B(dist=200001),DPP6(dist=831951)	ENSG00000133627(dist=200002),ENSG00000265275(dist=1354)	Na	Na	Na	Na	Na	Na	Het;-CTC	1099;41|30	Hom;-CTC	2213;0|50
N	N	-	7	152752607	152752607	T	C	snp	intergenic	 	 	 	 	ACTR3B	Actr3b	ENSG00000133627	ARP3 actin related protein 3 homolog B	chr7:152456834-152552463	This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]	Myocardial Infarction; Bipolar Disorder; Lipoproteins; Metabolism; Heart Failure; Tobacco Use Disorder	 		GO:0007015;actin filament organization;IEA|GO:0008150;biological_process;ND|GO:0034314;Arp2/3 complex-mediated actin nucleation;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTR3B	https://www.uniprot.org/uniprot/Q9P1U1			http://www.informatics.jax.org/searchtool/Search.do?query=ACTR3B&submit=Quick%0D%6850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR3B	rs760221	0.756589	0	0	1	0	0	intergenic	intergenic	intergenic	ACTR3B(dist=200143),LINC01287(dist=344397)	ACTR3B(dist=200143),DPP6(dist=831812)	ENSG00000133627(dist=200144),ENSG00000265275(dist=1215)	Na	Na	Na	Na	Na	Na	Het;T>C	116;8|4	Hom;T>C	242;0|6
N	N	-	7	152752612	152752612	C	T	snp	intergenic	 	 	 	 	ACTR3B	Actr3b	ENSG00000133627	ARP3 actin related protein 3 homolog B	chr7:152456834-152552463	This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]	Myocardial Infarction; Bipolar Disorder; Lipoproteins; Metabolism; Heart Failure; Tobacco Use Disorder	 		GO:0007015;actin filament organization;IEA|GO:0008150;biological_process;ND|GO:0034314;Arp2/3 complex-mediated actin nucleation;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTR3B	https://www.uniprot.org/uniprot/Q9P1U1			http://www.informatics.jax.org/searchtool/Search.do?query=ACTR3B&submit=Quick%0D%6850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR3B	rs760222	0.761382	0	0	1	0	0	intergenic	intergenic	intergenic	ACTR3B(dist=200148),LINC01287(dist=344392)	ACTR3B(dist=200148),DPP6(dist=831807)	ENSG00000133627(dist=200149),ENSG00000265275(dist=1210)	Na	Na	Na	Na	Na	Na	Het;C>T	116;8|4	Hom;C>T	242;0|6
N	N	-	7	1527687	1527687	C	T	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs10279407	0.615016	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;C>T	370;6|15	Hom;C>T	344;0|14
N	N	-	7	1528947	1528947	T	TCCCGGGCCCGCCGAGGGGACGTGCGCACTCACTTCAGGCCCTGCTCCCAGC	indel	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs58696597	0.591254	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;+CCCGGGCCCGCCGAGGGGACGTGCGCACTCACTTCAGGCCCTGCTCCCAGC	2530;4|16	Hom;+CCCGGGCCCGCCGAGGGGACGTGCGCACTCACTTCAGGCCCTGCTCCCAGC	2028;0|11
N	N	-	7	1529201	1529201	G	A	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs4425657	0.480831	0.3670	0.4970	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;G>A	1520;53|68	Hom;G>A	3077;3|121
N	N	-	7	1529427	1529427	C	A	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs4380839	0.615016	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;C>A	135;8|6	Hom;C>A	460;0|16
N	N	-	7	153097259	153097259	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01287																		rs7786678	0.764377	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01287	ACTR3B(dist=544795),DPP6(dist=487160)	ENSG00000234722	Na	Na	Na	Na	Na	Na	Het;C>T	1506;70|68	Hom;C>T	3834;0|142
N	N	-	7	153102751	153102751	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01287																		rs6942956	0.76238	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01287	ACTR3B(dist=550287),DPP6(dist=481668)	ENSG00000234722	Na	Na	Na	Na	Na	Na	Het;C>T	483;16|22	Hom;C>T	535;0|21
N	N	-	7	153154196	153154196	G	A	snp	intergenic	 	 	 	 	PAXBP1P1																		rs11760259	0.611821	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01287(dist=44877),DPP6(dist=429986)	ACTR3B(dist=601732),DPP6(dist=430223)	ENSG00000233489(dist=7236),ENSG00000130226(dist=429986)	Na	Na	Na	Na	Na	Na	Het;G>A	58;12|5	Hom;G>A	598;0|22
N	N	-	7	1532631	1532631	G	A	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs10229645	0.615016	0.5312	0.4953	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;G>A	650;30|32	Hom;G>A	1401;0|55
N	N	-	7	1533249	1533250	TC	T	indel	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs398094771	0	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;-C	146;1|6	Hom;-C	66;0|3
N	N	-	7	1533513	1533513	A	G	snp	synonymous SNV	T1945C	L649L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs2251226	0.615615	0.5300	0.5513	1	0	0	exonic	exonic	exonic	INTS1	INTS1	ENSG00000164880	synonymous SNV	synonymous SNV	unknown	INTS1:NM_001080453:exon15:c.T1945C:p.L649L,	INTS1:uc003skn.2:exon15:c.T1945C:p.L649L,	UNKNOWN	Het;A>G	918;73|44	Hom;A>G	2213;1|75
N	N	-	7	1533556	1533556	T	C	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs2251231	0.540735	0.4202	0.5024	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;T>C	1041;44|30	Hom;T>C	1730;0|42
N	N	-	7	1533566	1533566	A	G	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs2251232	0.614417	0.5275	0.5207	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>G	1015;38|26	Hom;A>G	1684;0|37
N	N	-	7	1534146	1534146	C	T	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs892528	0.499401	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;C>T	225;5|6	Hom;C>T	1077;0|24
N	N	-	7	1534155	1534155	T	C	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs892529	0.61262	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;T>C	225;7|7	Hom;T>C	1140;0|27
N	N	-	7	1534425	1534425	A	G	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs752791	0.615016	0.5397	0.5236	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>G	462;15|13	Hom;A>G	878;0|27
N	N	-	7	1534593	1534593	C	A	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs752792	0.490415	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;C>A	211;9|11	Hom;C>A	279;0|10
N	N	-	7	1535051	1535051	A	G	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs892530	0.611422	0.5260	0.4945	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>G	704;15|31	Hom;A>G	1164;0|41
N	N	-	7	1535632	1535632	C	T	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs6971387	0.611422	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;C>T	234;4|9	Hom;C>T	500;0|15
N	N	-	7	1536436	1536436	A	G	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs6946025	0.608027	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>G	159;4|9	Hom;A>G	92;0|4
N	N	-	7	1536448	1536448	A	C	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs6946028	0.608227	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>C	177;4|10	Hom;A>C	151;0|6
N	N	-	7	1536717	1536717	T	C	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs3735660	0.608027	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;T>C	200;8|8	Hom;T>C	221;0|7
N	N	-	7	153752597	153752602	CCAAGG	C	indel	intronic	 	 	 	 	DPP6	Dpp6	ENSG00000282974	dipeptidyl peptidase like 6	chr7:153584182-154685995	This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; null; pancreatic neoplasm|Pancreatic Neoplasms; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary; Type 2 Diabetes| edema | rosiglitazone; Amyotrophic lateral sclerosis	Mice homozygous for a knock-out allele exhibit loss of A-type K+ current gradients in distal dendrites.		GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:1901379;regulation of potassium ion transmembrane transport;IDA	GO:0005886;plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DPP6	https://www.uniprot.org/uniprot/P42658	https://hpo.jax.org/app/browse/search?q=DPP6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126141	http://www.informatics.jax.org/searchtool/Search.do?query=DPP6&submit=Quick%0D%22662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP6	rs3841360	0	0	0	1	0	0	intronic	intronic	intronic	DPP6	DPP6	ENSG00000130226	Na	Na	Na	Na	Na	Na	Het;-CAAGG	293;2|8	Hom;-CAAGG	213;0|6
N	N	-	7	1538539	1538539	A	G	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs57092311	0.609026	0.5400	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>G	705;26|30	Hom;A>G	1725;0|60
N	N	-	7	1538595	1538595	C	A	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs2289034	0.58746	0	0.4843	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;C>A	222;15|11	Hom;C>A	932;0|42
N	N	-	7	1538614	1538614	G	A	snp	synonymous SNV	C1134T	P378P	hydrophobic,neutral	hydrophobic,neutral	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs2289035	0.486621	0.3694	0.4760	1	0	0	exonic	exonic	exonic	INTS1	INTS1	ENSG00000164880	synonymous SNV	synonymous SNV	unknown	INTS1:NM_001080453:exon8:c.C1134T:p.P378P,	INTS1:uc003skq.2:exon8:c.C1134T:p.P378P,INTS1:uc003skn.2:exon8:c.C1134T:p.P378P,	UNKNOWN	Het;G>A	357;23|16	Hom;G>A	1330;0|47
N	N	-	7	1538877	1538877	A	G	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs750005	0.608626	0.5257	0.4913	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>G	1112;61|51	Hom;A>G	2611;0|93
N	N	-	7	153904224	153904225	AT	A	indel	intronic	 	 	 	 	DPP6	Dpp6	ENSG00000282974	dipeptidyl peptidase like 6	chr7:153584182-154685995	This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; null; pancreatic neoplasm|Pancreatic Neoplasms; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary; Type 2 Diabetes| edema | rosiglitazone; Amyotrophic lateral sclerosis	Mice homozygous for a knock-out allele exhibit loss of A-type K+ current gradients in distal dendrites.		GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:1901379;regulation of potassium ion transmembrane transport;IDA	GO:0005886;plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DPP6	https://www.uniprot.org/uniprot/P42658	https://hpo.jax.org/app/browse/search?q=DPP6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126141	http://www.informatics.jax.org/searchtool/Search.do?query=DPP6&submit=Quick%0D%22662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP6	rs398006808	0.546326	0	0	1	0	0	intronic	intronic	intronic	DPP6	DPP6	ENSG00000130226	Na	Na	Na	Na	Na	Na	Het;-T	59;14|4	Hom;-T	445;0|13
N	N	-	7	1539799	1539799	C	T	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs2304357	0.484824	0.3820	0.4589	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;C>T	469;34|23	Hom;C>T	1174;0|41
N	N	-	7	1540049	1540049	A	G	snp	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs2304358	0.615815	0.5399	0.5362	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;A>G	296;4|15	Hom;A>G	457;0|19
N	N	-	7	1542697	1542697	G	A	snp	synonymous SNV	C189T	A63A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs3752714	0.585663	0.5139	0.4807	1	0	0	exonic	exonic	exonic	INTS1	INTS1	ENSG00000164880	synonymous SNV	synonymous SNV	unknown	INTS1:NM_001080453:exon3:c.C189T:p.A63A,	INTS1:uc003skq.2:exon3:c.C189T:p.A63A,INTS1:uc003skn.2:exon3:c.C189T:p.A63A,	UNKNOWN	Het;G>A	1770;83|85	Hom;G>A	3711;0|135
N	N	-	7	1542814	1542814	T	C	snp	synonymous SNV	A72G	P24P	hydrophobic,neutral	hydrophobic,neutral	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs3752715	0.584665	0.4978	0.4840	1	0	0	exonic	exonic	exonic	INTS1	INTS1	ENSG00000164880	synonymous SNV	synonymous SNV	unknown	INTS1:NM_001080453:exon3:c.A72G:p.P24P,	INTS1:uc003skq.2:exon3:c.A72G:p.P24P,INTS1:uc003skn.2:exon3:c.A72G:p.P24P,	UNKNOWN	Het;T>C	792;45|39	Hom;T>C	2170;2|80
N	N	-	7	1543476	1543476	T	TCCCCAAAGAC	indel	intronic	 	 	 	 	INTS1	Ints1	ENSG00000164880	integrator complex subunit 1	chr7:1509913-1545489	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]		Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.	RNA polymerase II transcribes snRNA genes	GO:0016180;snRNA processing;IDA|GO:0034474;U2 snRNA 3'-end processing;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA		http://www.genecards.org/index.php?path=/Search/keyword/INTS1			https://www.ncbi.nlm.nih.gov/omim/?term=611345	http://www.informatics.jax.org/searchtool/Search.do?query=INTS1&submit=Quick%0D%11410ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS1	rs11283071	0	0	0	1	0	0	intronic	intronic	intronic	INTS1	INTS1	ENSG00000164880	Na	Na	Na	Na	Na	Na	Het;+CCCCAAAGAC	266;21|7	Hom;+CCCCAAAGAC	875;0|18
N	N	-	7	154644210	154644210	G	GCCTCTCCTGCCTCTCCTC	indel	ncRNA_intronic	 	 	 	 	AC073336.1																		rs147793386	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DPP6	DPP6	ENSG00000236408	Na	Na	Na	Na	Na	Na	Het;+CCTCTCCTGCCTCTCCTC	66;4|3	Hom;+CCTCTCCTGCCTCTCCTC	122;0|4
N	N	-	7	154645406	154645406	A	G	snp	ncRNA_intronic	 	 	 	 	AC073336.1																		rs6962284	0.69349	0	0	1	0	0	intronic	intronic	ncRNA_intronic	DPP6	DPP6	ENSG00000236408	Na	Na	Na	Na	Na	Na	Het;A>G	989;31|23	Hom;A>G	2209;2|47
N	N	-	7	154645419	154645419	G	GTTTTC	indel	ncRNA_intronic	 	 	 	 	AC073336.1																		rs145928686	0.489417	0.4112	0	1	0	0	intronic	intronic	ncRNA_intronic	DPP6	DPP6	ENSG00000236408	Na	Na	Na	Na	Na	Na	Het;+TTTTC	1348;40|33	Hom;+TTTTC	3232;1|64
N	N	-	7	154672809	154672809	G	A	snp	intronic	 	 	 	 	DPP6	Dpp6	ENSG00000282974	dipeptidyl peptidase like 6	chr7:153584182-154685995	This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; null; pancreatic neoplasm|Pancreatic Neoplasms; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis|Spastic Paraplegia, Hereditary; Type 2 Diabetes| edema | rosiglitazone; Amyotrophic lateral sclerosis	Mice homozygous for a knock-out allele exhibit loss of A-type K+ current gradients in distal dendrites.		GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:1901379;regulation of potassium ion transmembrane transport;IDA	GO:0005886;plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DPP6	https://www.uniprot.org/uniprot/P42658	https://hpo.jax.org/app/browse/search?q=DPP6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=126141	http://www.informatics.jax.org/searchtool/Search.do?query=DPP6&submit=Quick%0D%22662ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP6	rs3817518	0.322284	0	0	1	0	0	intronic	intronic	intronic	DPP6	DPP6	ENSG00000130226	Na	Na	Na	Na	Na	Na	Het;G>A	125;1|5	Hom;G>A	77;0|3
N	N	-	7	154859840	154859840	G	A	snp	ncRNA_exonic	 	 	 	 	HTR5A-AS1																		rs2581842	0.508986	0	0	1	0	0	ncRNA_exonic	UTR3	UTR3	HTR5A-AS1	LOC100128264(uc003wlt.2:c.*1086C>T,uc011kvt.1:c.*1111C>T)	ENSG00000220575(ENST00000395731:c.*1086C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1350;74|65	Hom;G>A	3463;0|125
N	N	-	7	154897972	154897972	T	C	snp	upstream	 	 	 	 	AC092628.1																		rs1618158	0.701478	0	0	1	0	0	intergenic	intergenic	upstream	HTR5A(dist=18870),INSIG1(dist=191514)	HTR5A(dist=18870),AX746871(dist=124419)	ENSG00000228806	Na	Na	Na	Na	Na	Na	Het;T>C	42;10|3	Hom;T>C	492;0|17
N	N	-	7	154898078	154898078	T	C	snp	upstream	 	 	 	 	AC092628.1																		rs1619015	0.705471	0	0	1	0	0	intergenic	intergenic	upstream	HTR5A(dist=18976),INSIG1(dist=191408)	HTR5A(dist=18976),AX746871(dist=124313)	ENSG00000228806	Na	Na	Na	Na	Na	Na	Het;T>C	243;8|12	Hom;T>C	632;0|23
N	N	-	7	156160996	156160996	T	C	snp	intergenic	 	 	 	 	AC093813.1																		rs13243950	0.619209	0	0	1	0	0	intergenic	intergenic	intergenic	LOC389602(dist=401959),LOC285889(dist=69487)	Mir_598(dist=434322),LOC285889(dist=69487)	ENSG00000270584(dist=104500),ENSG00000228569(dist=64221)	Na	Na	Na	Na	Na	Na	Het;T>C	321;7|9	Hom;T>C	524;0|11
N	N	-	7	156161005	156161005	G	T	snp	intergenic	 	 	 	 	AC093813.1																		rs13224457	0.375998	0	0	1	0	0	intergenic	intergenic	intergenic	LOC389602(dist=401968),LOC285889(dist=69478)	Mir_598(dist=434331),LOC285889(dist=69478)	ENSG00000270584(dist=104509),ENSG00000228569(dist=64212)	Na	Na	Na	Na	Na	Na	Het;G>T	321;8|8	Hom;G>T	524;0|13
N	N	-	7	156161062	156161062	T	C	snp	intergenic	 	 	 	 	AC093813.1																		rs13244057	0.375599	0	0	1	0	0	intergenic	intergenic	intergenic	LOC389602(dist=402025),LOC285889(dist=69421)	Mir_598(dist=434388),LOC285889(dist=69421)	ENSG00000270584(dist=104566),ENSG00000228569(dist=64155)	Na	Na	Na	Na	Na	Na	Het;T>C	1046;18|27	Hom;T>C	1411;2|33
N	N	-	7	156161063	156161063	G	A	snp	intergenic	 	 	 	 	AC093813.1																		rs13224561	0.375599	0	0	1	0	0	intergenic	intergenic	intergenic	LOC389602(dist=402026),LOC285889(dist=69420)	Mir_598(dist=434389),LOC285889(dist=69420)	ENSG00000270584(dist=104567),ENSG00000228569(dist=64154)	Na	Na	Na	Na	Na	Na	Het;G>A	1046;18|27	Hom;G>A	1411;2|34
N	N	-	7	156161066	156161066	T	C	snp	intergenic	 	 	 	 	AC093813.1																		rs35137250	0.375599	0	0	1	0	0	intergenic	intergenic	intergenic	LOC389602(dist=402029),LOC285889(dist=69417)	Mir_598(dist=434392),LOC285889(dist=69417)	ENSG00000270584(dist=104570),ENSG00000228569(dist=64151)	Na	Na	Na	Na	Na	Na	Het;T>C	1046;20|27	Hom;T>C	1495;2|37
N	N	-	7	156282181	156282193	TTAGATAGATAGA	T	indel	ncRNA_intronic	 	 	 	 	LINC01006																		rs758092700	0	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01006	LOC285889(dist=43899),LINC00244(dist=50992)	ENSG00000182648	Na	Na	Na	Na	Na	Na	Het;-TAGATAGATAGA	171;1|5	Hom;-TAGATAGATAGA	144;0|4
N	N	-	7	157151234	157151234	C	T	snp	intronic	 	 	 	 	DNAJB6	Dnajb6	ENSG00000105993	DnaJ heat shock protein family (Hsp40) member B6	chr7:157128075-157210133	This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; Fibrinogen; monocyte chemoattractant protein 1 (66-77)	Homozygous mutants died at mid-gestation due to a failure of chorioallantoic fusion at embryonic day 8.5, and thus preventing the formation of a mature placenta.	HSF1-dependent transactivation	GO:0006457;protein folding;IDA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0032781;positive regulation of ATPase activity;IEA|GO:0032880;regulation of protein localization;IMP|GO:0034504;protein localization to nucleus;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045109;intermediate filament organization;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0060710;chorio-allantoic fusion;IEA|GO:0060715;syncytiotrophoblast cell differentiation involved in labyrinthine layer development;IEA|GO:0060717;chorion development;IEA|GO:0090084;negative regulation of inclusion body assembly;IDA|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030018;Z disc;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0001671;ATPase activator activity;TAS|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IDA|GO:0051082;unfolded protein binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNAJB6	https://www.uniprot.org/uniprot/O75190	https://hpo.jax.org/app/browse/search?q=DNAJB6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611332	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJB6&submit=Quick%0D%3429ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJB6	rs3802100	0.569089	0.5342	0.5734	1	0	0	intronic	intronic	intronic	DNAJB6	DNAJB6	ENSG00000105993	Na	Na	Na	Na	Na	Na	Het;C>T	239;9|11	Hom;C>T	810;0|31
N	N	-	7	157159423	157159423	G	A	snp	intronic	 	 	 	 	DNAJB6	Dnajb6	ENSG00000105993	DnaJ heat shock protein family (Hsp40) member B6	chr7:157128075-157210133	This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; Fibrinogen; monocyte chemoattractant protein 1 (66-77)	Homozygous mutants died at mid-gestation due to a failure of chorioallantoic fusion at embryonic day 8.5, and thus preventing the formation of a mature placenta.	HSF1-dependent transactivation	GO:0006457;protein folding;IDA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0032781;positive regulation of ATPase activity;IEA|GO:0032880;regulation of protein localization;IMP|GO:0034504;protein localization to nucleus;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045109;intermediate filament organization;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0060710;chorio-allantoic fusion;IEA|GO:0060715;syncytiotrophoblast cell differentiation involved in labyrinthine layer development;IEA|GO:0060717;chorion development;IEA|GO:0090084;negative regulation of inclusion body assembly;IDA|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030018;Z disc;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0001671;ATPase activator activity;TAS|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IDA|GO:0051082;unfolded protein binding;IDA|GO:0051087;chaperone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DNAJB6	https://www.uniprot.org/uniprot/O75190	https://hpo.jax.org/app/browse/search?q=DNAJB6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611332	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJB6&submit=Quick%0D%3429ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJB6	rs3779591	0.573482	0	0	1	0	0	intronic	intronic	intronic	DNAJB6	DNAJB6	ENSG00000105993	Na	Na	Na	Na	Na	Na	Het;G>A	127;2|5	Hom;G>A	167;0|6
N	N	-	7	15734564	15734564	G	C	snp	ncRNA_exonic	 	 	 	 	MEOX2-AS1																		rs968865	0.473243	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	MEOX2-AS1	MEOX2(dist=8256),ISPD(dist=392588)	ENSG00000229108	Na	Na	Na	Na	Na	Na	Het;G>C	1582;77|70	Hom;G>C	3522;0|125
N	N	-	7	15734715	15734715	T	G	snp	ncRNA_exonic	 	 	 	 	MEOX2-AS1																		rs726395	0.509984	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	MEOX2-AS1	MEOX2(dist=8407),ISPD(dist=392437)	ENSG00000229108	Na	Na	Na	Na	Na	Na	Het;T>G	1561;98|70	Hom;T>G	4650;1|163
N	N	-	7	157408290	157408290	G	A	snp	unknown	 	 	 	 	AC005481.1																		rs73744812	0.0860623	0	0.0566	1	0	0	intronic	intronic	exonic	PTPRN2	PTPRN2	ENSG00000222012	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	69;10|4	Hom;G>A	92;0|4
N	N	-	7	157741400	157741400	T	A	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs4716820	0.579273	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;T>A	85;14|6	Hom;T>A	607;0|23
N	N	-	7	157741542	157741542	T	C	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs4716821	0.579273	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;T>C	574;22|16	Hom;T>C	961;0|23
N	N	-	7	157741565	157741565	T	G	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs4716823	0.579273	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;T>G	536;18|15	Hom;T>G	894;0|19
N	N	-	7	158209727	158209727	C	A	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs9791851	0.522165	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;C>A	1180;88|37	Hom;C>A	4248;0|97
N	N	-	7	158209733	158209733	C	T	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs62478435	0.521366	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;C>T	1096;87|33	Hom;C>T	4230;0|93
N	N	-	7	158209734	158209736	TAA	T	indel	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs71891644	0.524161	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;-AA	1087;82|30	Hom;-AA	4137;0|86
N	N	-	7	158209742	158209742	A	G	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs11983316	0.521166	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;A>G	1006;71|30	Hom;A>G	3662;0|79
N	N	-	7	158209746	158209746	C	T	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs11979808	0.521166	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;C>T	1015;69|29	Hom;C>T	3437;0|75
N	N	-	7	158209755	158209755	A	G	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs11983338	0.520367	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;A>G	826;62|23	Hom;A>G	2897;0|64
N	N	-	7	158209764	158209764	C	T	snp	intronic	 	 	 	 	PTPRN2	Ptprn2	ENSG00000282185	protein tyrosine phosphatase, receptor type N2	chr7:157331750-158380480	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]	C-Reactive Protein; Albumins; Mental Disorders; breast cancer ; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; hypertension; Kidney Diseases; Lipoproteins; Alcoholism; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels.					http://www.genecards.org/index.php?path=/Search/keyword/PTPRN2			https://www.ncbi.nlm.nih.gov/omim/?term=601698	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRN2&submit=Quick%0D%22431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRN2	rs11979823	0.519968	0	0	1	0	0	intronic	intronic	intronic	PTPRN2	PTPRN2	ENSG00000155093	Na	Na	Na	Na	Na	Na	Het;C>T	718;59|22	Hom;C>T	2672;0|58
N	N	-	7	158383607	158383607	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01022																		rs12535897	0.228035	0	0	1	0	0	upstream	upstream	ncRNA_exonic	MIR5707	MIR5707	ENSG00000232715	Na	Na	Na	Na	Na	Na	Het;C>T	1265;58|60	Hom;C>T	2740;0|100
N	N	-	7	158384305	158384309	CTGTG	C	indel	ncRNA_exonic	 	 	 	 	MIR5707																		rs57838569	0	0	0.2727	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIR5707	MIR5707	ENSG00000265598	Na	Na	Na	Na	Na	Na	Het;-TGTG	2491;67|65	Hom;-TGTG	5579;0|127
N	N	-	7	158424508	158424508	A	G	snp	intronic	 	 	 	 	NCAPG2	Ncapg2	ENSG00000146918	non-SMC condensin II complex subunit G2	chr7:158424003-158497520	This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]		Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development.	Condensation of Prophase Chromosomes	GO:0001833;inner cell mass cell proliferation;IEA|GO:0007049;cell cycle;IEA|GO:0030261;chromosome condensation;IEA|GO:0051301;cell division;IEA	GO:0000796;condensin complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NCAPG2	https://www.uniprot.org/uniprot/Q86XI2		https://www.ncbi.nlm.nih.gov/omim/?term=608532	http://www.informatics.jax.org/searchtool/Search.do?query=NCAPG2&submit=Quick%0D%8930ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAPG2	rs11973267	0.811701	0	0	1	0	0	intronic	intronic	intronic	NCAPG2	NCAPG2	ENSG00000146918	Na	Na	Na	Na	Na	Na	Het;A>G	41;2|2	Hom;A>G	135;0|4
N	N	-	7	158445267	158445267	C	CA	indel	intronic	 	 	 	 	NCAPG2	Ncapg2	ENSG00000146918	non-SMC condensin II complex subunit G2	chr7:158424003-158497520	This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]		Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development.	Condensation of Prophase Chromosomes	GO:0001833;inner cell mass cell proliferation;IEA|GO:0007049;cell cycle;IEA|GO:0030261;chromosome condensation;IEA|GO:0051301;cell division;IEA	GO:0000796;condensin complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NCAPG2	https://www.uniprot.org/uniprot/Q86XI2		https://www.ncbi.nlm.nih.gov/omim/?term=608532	http://www.informatics.jax.org/searchtool/Search.do?query=NCAPG2&submit=Quick%0D%8930ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAPG2	rs398039298	0.511581	0	0	1	0	0	intronic	intronic	intronic	NCAPG2	NCAPG2	ENSG00000146918	Na	Na	Na	Na	Na	Na	Het;+A	135;7|7	Hom;+A	84;0|4
N	N	-	7	158590547	158590547	G	GA	indel	intronic	 	 	 	 	ESYT2	Esyt2	ENSG00000117868	extended synaptotagmin 2	chr7:158523686-158622944			Mice are viable and fertile without overt morphological defects except reduced FGF-stimulated mouse embryonic fibroblast migration.	Glycosphingolipid metabolism	GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IMP|GO:0044232;organelle membrane contact site;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IDA|GO:0008289;lipid binding;IEA|GO:0008429;phosphatidylethanolamine binding;IDA|GO:0031210;phosphatidylcholine binding;IDA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ESYT2	https://www.uniprot.org/uniprot/A0FGR8		https://www.ncbi.nlm.nih.gov/omim/?term=616691	http://www.informatics.jax.org/searchtool/Search.do?query=ESYT2&submit=Quick%0D%4928ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT2	rs11404991	0.598243	0	0	1	0	0	intronic	intronic	intronic	ESYT2	ESYT2	ENSG00000117868	Na	Na	Na	Na	Na	Na	Het;+A	52;3|5	Hom;+A	282;2|15
N	N	-	7	158649304	158649304	T	C	snp	UTR5	-123T>C	 	 	 	WDR60	Wdr60	ENSG00000126870	WD repeat domain 60	chr7:158649269-158749438	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]	Body Height; height; Body Weight; Waist Circumference	 	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR60	https://www.uniprot.org/uniprot/Q8WVS4	https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615462	http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60	rs2788472	0.427316	0	0	1	0	0	UTR5	UTR5	UTR5	WDR60(NM_018051:c.-123T>C)	WDR60(uc003woe.4:c.-123T>C)	ENSG00000126870(ENST00000407559:c.-123T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	38;6|2	Hom;T>C	146;0|4
N	N	-	7	158649373	158649373	A	G	snp	UTR5	-54A>G	 	 	 	WDR60	Wdr60	ENSG00000126870	WD repeat domain 60	chr7:158649269-158749438	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]	Body Height; height; Body Weight; Waist Circumference	 	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR60	https://www.uniprot.org/uniprot/Q8WVS4	https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615462	http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60	rs2657385	0.513578	0	0	1	0	0	UTR5	UTR5	UTR5	WDR60(NM_018051:c.-54A>G)	WDR60(uc003woe.4:c.-54A>G)	ENSG00000126870(ENST00000407559:c.-54A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	66;12|6	Hom;A>G	260;0|11
N	N	-	7	158662511	158662511	T	TTTTAAAC	indel	intronic	 	 	 	 	WDR60	Wdr60	ENSG00000126870	WD repeat domain 60	chr7:158649269-158749438	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]	Body Height; height; Body Weight; Waist Circumference	 	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR60	https://www.uniprot.org/uniprot/Q8WVS4	https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615462	http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60	rs3057377	0.546725	0.4281	0.4099	1	0	0	intronic	intronic	intronic	WDR60	WDR60	ENSG00000126870	Na	Na	Na	Na	Na	Na	Het;+TTTAAAC	663;30|16	Hom;+TTTAAAC	2134;0|45
N	N	-	7	158662698	158662698	T	C	snp	intronic	 	 	 	 	WDR60	Wdr60	ENSG00000126870	WD repeat domain 60	chr7:158649269-158749438	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]	Body Height; height; Body Weight; Waist Circumference	 	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR60	https://www.uniprot.org/uniprot/Q8WVS4	https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615462	http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60	rs842696	0.523363	0	0	1	0	0	intronic	intronic	intronic	WDR60	WDR60	ENSG00000126870	Na	Na	Na	Na	Na	Na	Het;T>C	413;10|18	Hom;T>C	680;0|25
N	N	-	7	1586653	1586653	A	AGCC	indel	nonframeshift substitution	1114_1114delinsGGCT	 	 	 	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs112463195	0	0.0015	0.5494	1	0	0	exonic	exonic	exonic	TMEM184A	TMEM184A	ENSG00000164855	nonframeshift substitution	nonframeshift substitution	unknown	TMEM184A:NM_001097620:exon9:c.1177_1177delinsGGCT,	TMEM184A:uc003skt.4:exon6:c.1114_1114delinsGGCT,TMEM184A:uc021zyr.1:exon7:c.592_592delinsGGCT,TMEM184A:uc003skv.4:exon9:c.1177_1177delinsGGCT,	UNKNOWN	Het;+GCC	1591;37|39	Hom;+GCC	1843;3|72
N	N	-	7	1586662	1586662	T	C	snp	nonsynonymous SNV	A1168G	S390G	polar,hydrophilic,neutral	aliphatic,neutral	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs3779607	0.626997	0.5394	0.6027	0.08	1	12	exonic	exonic	exonic	TMEM184A	TMEM184A	ENSG00000164855	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM184A:NM_001097620:exon9:c.A1168G:p.S390G,	TMEM184A:uc003skt.4:exon6:c.A1105G:p.S369G,TMEM184A:uc021zyr.1:exon7:c.A583G:p.S195G,TMEM184A:uc003skv.4:exon9:c.A1168G:p.S390G,	UNKNOWN	Het;T>C	1618;38|44	Hom;T>C	3758;1|93
N	N	-	7	158672619	158672619	A	G	snp	nonsynonymous SNV	A818G	Q273R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	WDR60	Wdr60	ENSG00000126870	WD repeat domain 60	chr7:158649269-158749438	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]	Body Height; height; Body Weight; Waist Circumference	 	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR60	https://www.uniprot.org/uniprot/Q8WVS4	https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615462	http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60	rs2788478	0.573682	0.4570	0.4410	0.08	1	13	exonic	exonic	exonic	WDR60	WDR60	ENSG00000126870	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR60:NM_018051:exon5:c.A818G:p.Q273R,	WDR60:uc003woe.4:exon5:c.A818G:p.Q273R,	UNKNOWN	Het;A>G	1179;112|64	Hom;A>G	4432;0|161
N	N	-	7	1586866	1586866	T	C	snp	intronic	 	 	 	 	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs3824072	0.677716	0.6124	0.6132	1	0	0	intronic	intronic	intronic	TMEM184A	TMEM184A	ENSG00000164855	Na	Na	Na	Na	Na	Na	Het;T>C	370;13|13	Hom;T>C	856;0|24
N	N	-	7	158711643	158711644	AT	A	indel	intronic	 	 	 	 	WDR60	Wdr60	ENSG00000126870	WD repeat domain 60	chr7:158649269-158749438	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]	Body Height; height; Body Weight; Waist Circumference	 	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR60	https://www.uniprot.org/uniprot/Q8WVS4	https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615462	http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60	rs3216979	0.231829	0	0	1	0	0	intronic	intronic	intronic	WDR60	WDR60	ENSG00000126870	Na	Na	Na	Na	Na	Na	Het;-T	130;21|8	Hom;-T	789;0|26
N	N	-	7	158715264	158715264	A	G	snp	intronic	 	 	 	 	WDR60	Wdr60	ENSG00000126870	WD repeat domain 60	chr7:158649269-158749438	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]	Body Height; height; Body Weight; Waist Circumference	 	Intraflagellar transport	GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WDR60	https://www.uniprot.org/uniprot/Q8WVS4	https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615462	http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60	rs6459913	0.434904	0.3405	0.3310	1	0	0	intronic	intronic	intronic	WDR60	WDR60	ENSG00000126870	Na	Na	Na	Na	Na	Na	Het;A>G	207;11|7	Hom;A>G	998;0|29
N	N	-	7	1588391	1588391	A	G	snp	nonsynonymous SNV	T515C	V172A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs3814481	0.67472	0	0.6586	1	0	0	intronic	exonic	intronic	TMEM184A	TMEM184A	ENSG00000164855	Na	nonsynonymous SNV	Na	Na	TMEM184A:uc003skt.4:exon4:c.T515C:p.V172A,	Na	Het;A>G	755;21|28	Hom;A>G	1301;0|45
N	N	-	7	1590368	1590368	A	G	snp	intronic	 	 	 	 	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs6463921	0.990016	0	0	1	0	0	intronic	intronic	intronic	TMEM184A	TMEM184A	ENSG00000164855	Na	Na	Na	Na	Na	Na	Het;A>G	537;6|14	Hom;A>G	782;0|18
N	N	-	7	1590376	1590376	T	C	snp	intronic	 	 	 	 	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs2304360	0.670927	0	0	1	0	0	intronic	intronic	intronic	TMEM184A	TMEM184A	ENSG00000164855	Na	Na	Na	Na	Na	Na	Het;T>C	630;7|18	Hom;T>C	911;0|22
N	N	-	7	1590443	1590443	T	C	snp	intronic	 	 	 	 	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs2304361	0.609225	0.5720	0.6020	1	0	0	intronic	intronic	intronic	TMEM184A	TMEM184A	ENSG00000164855	Na	Na	Na	Na	Na	Na	Het;T>C	951;22|40	Hom;T>C	1524;0|53
N	N	-	7	16036332	16036332	A	G	snp	intergenic	 	 	 	 	AC006041.1																		rs13229659	0.428514	0	0	1	0	0	intergenic	intergenic	intergenic	MEOX2-AS1(dist=299815),ISPD(dist=90820)	MEOX2(dist=310024),ISPD(dist=90820)	ENSG00000229379(dist=154347),ENSG00000273477(dist=90820)	Na	Na	Na	Na	Na	Na	Het;A>G	108;8|6	Hom;A>G	228;0|8
N	N	-	7	16127297	16127297	G	T	snp	ncRNA_exonic	 	 	 	 	ENSG00000273477																		rs12539174	0.333666	0	0	1	0	0	UTR3	UTR3	ncRNA_exonic	ISPD(NM_001101426:c.*4023C>A,NM_001101417:c.*4023C>A)	ISPD(uc010ktx.2:c.*4023C>A,uc010kty.2:c.*4023C>A)	ENSG00000273477	Na	Na	Na	Na	Na	Na	Het;G>T	319;38|18	Hom;G>T	761;0|30
N	N	-	7	16129643	16129643	T	C	snp	UTR3	*1677A>G	 	 	 	ISPD	Ispd	ENSG00000214960	isoprenoid synthase domain containing	chr7:16130817-16460947	This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias.		GO:0006486;protein glycosylation;IEA|GO:0007411;axon guidance;IEA|GO:0008299;isoprenoid biosynthetic process;IEA|GO:0035269;protein O-linked mannosylation;IMP		GO:0003824;catalytic activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0070567;cytidylyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ISPD			https://www.ncbi.nlm.nih.gov/omim/?term=614631	http://www.informatics.jax.org/searchtool/Search.do?query=ISPD&submit=Quick%0D%18294ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ISPD	rs1528136	0.812101	0	0	1	0	0	UTR3	UTR3	upstream	ISPD(NM_001101426:c.*1677A>G,NM_001101417:c.*1677A>G)	ISPD(uc010ktx.2:c.*1677A>G,uc010kty.2:c.*1677A>G)	ENSG00000230981,ENSG00000273477	Na	Na	Na	Na	Na	Na	Het;T>C	358;32|19	Hom;T>C	1359;0|51
N	N	-	7	16597114	16597114	T	C	snp	intronic	 	 	 	 	LRRC72	Lrrc72	ENSG00000205858	leucine rich repeat containing 72	chr7:16566505-16621193			 					http://www.genecards.org/index.php?path=/Search/keyword/LRRC72				http://www.informatics.jax.org/searchtool/Search.do?query=LRRC72&submit=Quick%0D%17574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC72	rs6951596	0.208267	0	0.2359	1	0	0	intronic	intronic	intronic	LRRC72	LRRC72	ENSG00000205858	Na	Na	Na	Na	Na	Na	Het;T>C	197;13|9	Hom;T>C	820;0|28
N	N	-	7	16597174	16597174	A	G	snp	intronic	 	 	 	 	LRRC72	Lrrc72	ENSG00000205858	leucine rich repeat containing 72	chr7:16566505-16621193			 					http://www.genecards.org/index.php?path=/Search/keyword/LRRC72				http://www.informatics.jax.org/searchtool/Search.do?query=LRRC72&submit=Quick%0D%17574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC72	rs6969347	0.208267	0	0	1	0	0	intronic	intronic	intronic	LRRC72	LRRC72	ENSG00000205858	Na	Na	Na	Na	Na	Na	Het;A>G	69;4|3	Hom;A>G	377;0|10
N	N	-	7	16620928	16620928	A	G	snp	intronic	 	 	 	 	LRRC72	Lrrc72	ENSG00000205858	leucine rich repeat containing 72	chr7:16566505-16621193			 					http://www.genecards.org/index.php?path=/Search/keyword/LRRC72				http://www.informatics.jax.org/searchtool/Search.do?query=LRRC72&submit=Quick%0D%17574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC72	rs562687	0.488818	0	0.4732	1	0	0	intronic	intronic	intronic	LRRC72	LRRC72	ENSG00000205858	Na	Na	Na	Na	Na	Na	Het;A>G	1002;54|50	Hom;A>G	1791;0|69
N	N	-	7	16623514	16623514	T	G	snp	ncRNA_exonic	 	 	 	 	AC005014.1																		rs496835	0.425719	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LRRC72(dist=2400),ANKMY2(dist=15887)	LRRC72(dist=2400),ANKMY2(dist=15887)	ENSG00000224280	Na	Na	Na	Na	Na	Na	Het;T>G	473;31|25	Hom;T>G	1676;0|61
N	N	-	7	16676164	16676164	G	C	snp	intronic	 	 	 	 	ANKMY2	Ankmy2	ENSG00000106524	ankyrin repeat and MYND domain containing 2	chr7:16639401-16685442			 		GO:0008589;regulation of smoothened signaling pathway;IBA	GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKMY2	https://www.uniprot.org/uniprot/Q8IV38			http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY2&submit=Quick%0D%3510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY2	rs76641055	0.0996406	0	0	1	0	0	intronic	intronic	intronic	ANKMY2	ANKMY2	ENSG00000106524	Na	Na	Na	Na	Na	Na	Het;G>C	75;2|4	Hom;G>C	113;0|4
N	N	-	7	17118311	17118311	A	G	snp	intergenic	 	 	 	 	BRWD1P3																		rs6461295	0.519169	0	0	1	0	0	intergenic	intergenic	intergenic	AGR3(dist=196698),AHR(dist=219965)	AGR3(dist=196698),AHR(dist=219965)	ENSG00000232841(dist=45209),ENSG00000237773(dist=201147)	Na	Na	Na	Na	Na	Na	Het;A>G	829;48|43	Hom;A>G	2693;0|103
N	N	-	7	17490691	17490691	T	C	snp	ncRNA_intronic	 	 	 	 	LOC102659288																		rs655478	0.730431	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102659288	AHR(dist=104916),Mir_384(dist=106992)	ENSG00000236039,ENSG00000236318	Na	Na	Na	Na	Na	Na	Het;T>C	1803;88|86	Hom;T>C	5578;0|200
N	N	-	7	17504881	17504881	A	C	snp	ncRNA_intronic	 	 	 	 	LOC101927630																		rs524786	0.650359	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927630,LOC102659288	AHR(dist=119106),Mir_384(dist=92802)	ENSG00000226598,ENSG00000236318	Na	Na	Na	Na	Na	Na	Het;A>C	331;16|17	Hom;A>C	958;0|34
N	N	-	7	17874271	17874271	T	C	snp	intronic	 	 	 	 	SNX13	Snx13	ENSG00000071189	sorting nexin 13	chr7:17830385-17980124	This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Homozygous null mice are growth retarded and die at midgestation with defects in neural tube closure, vasculogenesis and placental development. Mutant visceral yolk sac endoderm cells exhibit altered endocytic compartments, abundant autophagic vacuoles and mislocalization of endocytic markers.		GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0009968;negative regulation of signal transduction;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IDA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA	GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SNX13	https://www.uniprot.org/uniprot/Q9Y5W8		https://www.ncbi.nlm.nih.gov/omim/?term=606589	http://www.informatics.jax.org/searchtool/Search.do?query=SNX13&submit=Quick%0D%1390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX13	rs4721660	0.90635	0	0	1	0	0	intronic	intronic	intronic	SNX13	SNX13	ENSG00000071189	Na	Na	Na	Na	Na	Na	Het;T>C	83;2|3	Hom;T>C	188;0|6
N	N	-	7	18630208	18630208	A	C	snp	intronic	 	 	 	 	HDAC9	Hdac9	ENSG00000048052	histone deacetylase 9	chr7:18126572-19042039	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Atrial Natriuretic Factor; Mental Competency; Body Weight; Diabetes Mellitus, Type 2; Electrocardiography; Blood Pressure; Waist Circumference; colorectal cancer; non-small cell lung carcinoma; Coronary Artery Disease; Bone Density; HDAC inhibitor-induced growth arrest.; Pulse; Stroke; Type 2 Diabetes| edema | rosiglitazone; hypertension; Blood Cells	Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy.	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001975;response to amphetamine;IEA|GO:0006325;chromatin organization;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006954;inflammatory response;TAS|GO:0007507;heart development;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030182;neuron differentiation;IEA|GO:0030183;B cell differentiation;TAS|GO:0032869;cellular response to insulin stimulus;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0042113;B cell activation;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048742;regulation of skeletal muscle fiber development;ISS|GO:0051153;regulation of striated muscle cell differentiation;ISS|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0090050;positive regulation of cell migration involved in sprouting angiogenesis;IMP	GO:0000118;histone deacetylase complex;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0035097;histone methyltransferase complex;ISS	GO:0003714;transcription corepressor activity;ISS|GO:0004407;histone deacetylase activity;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HDAC9	https://www.uniprot.org/uniprot/Q9UKV0		https://www.ncbi.nlm.nih.gov/omim/?term=606543	http://www.informatics.jax.org/searchtool/Search.do?query=HDAC9&submit=Quick%0D%883ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC9	rs1726610	0.711462	0	0	1	0	0	intronic	intronic	intronic	HDAC9	HDAC9	ENSG00000048052	Na	Na	Na	Na	Na	Na	Het;A>C	193;7|8	Hom;A>C	432;0|12
N	N	-	7	1909979	1909979	G	A	snp	intronic	 	 	 	 	MAD1L1	Mad1l1	ENSG00000002822	MAD1 mitotic arrest deficient like 1	chr7:1855429-2272878	MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	lung cancer; Mental Disorders; Carcinoma, Hepatocellular|Liver Neoplasms|Neoplasm Recurrence, Local; Longevity; Narcolepsy; Tobacco Use Disorder; Bipolar Disorder; Myocardial Infarction; Iron; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Neutrophils	Mice homozygous for a null allele die in utero. Aging heterozygous null mice show increased tumor incidence while heterozygous MEFs are more prone to aneuploidy, induce fibrosarcomas in athymic nude mice, and show a weaker spindle assembly checkpoint-mediated arrest n response to nocodazole.	Mitotic Prometaphase	GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007093;mitotic cell cycle checkpoint;NAS|GO:0007094;mitotic spindle assembly checkpoint;IBA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0048538;thymus development;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0090235;regulation of metaphase plate congression;IDA|GO:1901990;regulation of mitotic cell cycle phase transition;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005643;nuclear pore;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;NAS|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0072686;mitotic spindle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAD1L1	https://www.uniprot.org/uniprot/Q9Y6D9	https://hpo.jax.org/app/browse/search?q=MAD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602686	http://www.informatics.jax.org/searchtool/Search.do?query=MAD1L1&submit=Quick%0D%295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAD1L1	rs533583251	0.00259585	0	0	1	0	0	intronic	intronic	intronic	MAD1L1	MAD1L1	ENSG00000002822	Na	Na	Na	Na	Na	Na	Het;G>A	95;1|3	Hom;G>A	142;0|4
N	N	-	7	20068680	20068680	A	AT	indel	ncRNA_intronic	 	 	 	 	LOC101927668																		rs11423560	0.132588	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927668	TMEM196(dist=256276),MACC1(dist=105599)	ENSG00000243004	Na	Na	Na	Na	Na	Na	Het;+T	97;5|4	Hom;+T	442;0|13
N	N	-	7	20068707	20068707	C	A	snp	ncRNA_intronic	 	 	 	 	LOC101927668																		rs10243827	0.0998403	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927668	TMEM196(dist=256303),MACC1(dist=105572)	ENSG00000243004	Na	Na	Na	Na	Na	Na	Het;C>A	63;4|4	Hom;C>A	210;0|7
N	N	-	7	21779104	21779104	C	T	snp	intronic	 	 	 	 	DNAH11	Dnah11	ENSG00000105877	dynein axonemal heavy chain 11	chr7:21582833-21941457	This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]	Asthenozoospermia|Kartagener Syndrome; Multiple Myeloma; Tobacco Use Disorder; Diabetic Nephropathies; Cholesterol, HDL; Cholesterol; Cholesterol, total; LDL cholesterol; Brain; Cholesterol, LDL; Alzheimer Disease; smoking cessation; Coronary Disease|; Parietal Lobe	Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.		GO:0003341;cilium movement;IEA|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH11	https://www.uniprot.org/uniprot/Q96DT5	https://hpo.jax.org/app/browse/search?q=DNAH11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603339	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH11&submit=Quick%0D%3407ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH11	rs933353	0.519369	0	0	1	0	0	intronic	intronic	intronic	DNAH11	DNAH11	ENSG00000105877	Na	Na	Na	Na	Na	Na	Het;C>T	297;5|12	Hom;C>T	600;0|18
N	N	-	7	21858043	21858043	A	G	snp	intronic	 	 	 	 	DNAH11	Dnah11	ENSG00000105877	dynein axonemal heavy chain 11	chr7:21582833-21941457	This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]	Asthenozoospermia|Kartagener Syndrome; Multiple Myeloma; Tobacco Use Disorder; Diabetic Nephropathies; Cholesterol, HDL; Cholesterol; Cholesterol, total; LDL cholesterol; Brain; Cholesterol, LDL; Alzheimer Disease; smoking cessation; Coronary Disease|; Parietal Lobe	Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.		GO:0003341;cilium movement;IEA|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH11	https://www.uniprot.org/uniprot/Q96DT5	https://hpo.jax.org/app/browse/search?q=DNAH11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603339	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH11&submit=Quick%0D%3407ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH11	rs10277757	0.510583	0	0	1	0	0	intronic	intronic	intronic	DNAH11	DNAH11	ENSG00000105877	Na	Na	Na	Na	Na	Na	Het;A>G	84;2|4	Hom;A>G	282;0|10
N	N	-	7	21940465	21940465	T	C	snp	intronic	 	 	 	 	DNAH11	Dnah11	ENSG00000105877	dynein axonemal heavy chain 11	chr7:21582833-21941457	This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]	Asthenozoospermia|Kartagener Syndrome; Multiple Myeloma; Tobacco Use Disorder; Diabetic Nephropathies; Cholesterol, HDL; Cholesterol; Cholesterol, total; LDL cholesterol; Brain; Cholesterol, LDL; Alzheimer Disease; smoking cessation; Coronary Disease|; Parietal Lobe	Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.		GO:0003341;cilium movement;IEA|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH11	https://www.uniprot.org/uniprot/Q96DT5	https://hpo.jax.org/app/browse/search?q=DNAH11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603339	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH11&submit=Quick%0D%3407ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH11	rs62445900	0.17512	0	0	1	0	0	intronic	intronic	intronic	DNAH11	DNAH11	ENSG00000105877	Na	Na	Na	Na	Na	Na	Het;T>C	105;5|4	Hom;T>C	129;0|4
N	N	-	7	23352512	23352512	C	A	snp	intronic	 	 	 	 	IGF2BP3	Igf2bp3	ENSG00000136231	insulin like growth factor 2 mRNA binding protein 3	chr7:23349828-23510086	The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X|Obesity; Tobacco Use Disorder; Body Height; Type 2 Diabetes| edema | rosiglitazone	 	Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA	GO:0006412;translation;TAS|GO:0006417;regulation of translation;IEA|GO:0006810;transport;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0017148;negative regulation of translation;ISS|GO:0042035;regulation of cytokine biosynthetic process;IC|GO:0043488;regulation of mRNA stability;TAS|GO:0051028;mRNA transport;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0045182;translation regulator activity;ISS|GO:0048027;mRNA 5'-UTR binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IGF2BP3	https://www.uniprot.org/uniprot/O00425		https://www.ncbi.nlm.nih.gov/omim/?term=608259	http://www.informatics.jax.org/searchtool/Search.do?query=IGF2BP3&submit=Quick%0D%7310ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF2BP3	rs199653	0.976637	0.9529	0.9542	1	0	0	intronic	intronic	intronic	IGF2BP3	IGF2BP3	ENSG00000136231	Na	Na	Na	Na	Na	Na	Het;C>A	280;9|12	Hom;C>A	718;0|30
N	N	-	7	23624335	23624335	G	A	snp	ncRNA_exonic	 	 	 	 	CLK2P1																		rs227931	0.464457	0	0	1	0	0	ncRNA_exonic	UTR3	downstream	CLK2P1	CLK2P(uc003swk.2:c.*346C>T)	ENSG00000232553	Na	Na	Na	Na	Na	Na	Het;G>A	495;14|22	Hom;G>A	766;0|29
N	N	-	7	23719766	23719766	G	A	snp	UTR5	-72G>A	 	 	 	FAM221A	Fam221a	ENSG00000188732	family with sequence similarity 221 member A	chr7:23719749-23742868		Iron	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM221A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM221A&submit=Quick%0D%16095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM221A	rs56391241	0.470647	0	0	1	0	0	UTR5	UTR5	UTR5	FAM221A(NM_001127364:c.-72G>A,NM_001127365:c.-72G>A,NM_199136:c.-72G>A,NM_001300932:c.-72G>A)	FAM221A(uc003swo.4:c.-72G>A,uc003swq.4:c.-72G>A,uc003swr.4:c.-72G>A)	ENSG00000188732(ENST00000344962:c.-72G>A,ENST00000409192:c.-72G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	240;11|14	Hom;G>A	670;0|26
N	N	-	7	23719779	23719779	G	A	snp	UTR5	-59G>A	 	 	 	FAM221A	Fam221a	ENSG00000188732	family with sequence similarity 221 member A	chr7:23719749-23742868		Iron	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM221A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM221A&submit=Quick%0D%16095ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM221A	rs56359038	0.486222	0	0	1	0	0	UTR5	UTR5	UTR5	FAM221A(NM_001127364:c.-59G>A,NM_001127365:c.-59G>A,NM_199136:c.-59G>A,NM_001300932:c.-59G>A)	FAM221A(uc003swo.4:c.-59G>A,uc003swq.4:c.-59G>A,uc003swr.4:c.-59G>A)	ENSG00000188732(ENST00000344962:c.-59G>A,ENST00000409192:c.-59G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	271;13|15	Hom;G>A	1028;1|41
N	N	-	7	23794029	23794029	G	A	snp	nonsynonymous SNV	G1160A	G387E	aliphatic,neutral	polar,hydrophilic,charged(-)	STK31	Stk31	ENSG00000196335	serine/threonine kinase 31	chr7:23749786-23872132	This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Mental Competency; Insulin; Chronic renal failure|Kidney Failure, Chronic; Triglycerides; Tobacco Use Disorder; Monocytes; Heart Rate; Myocardial Infarction	Mice homozygous for a null mutation display normal embryonic development and spermatogenesis.		GO:0006401;RNA catabolic process;IBA|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0004518;nuclease activity;IBA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK31			https://www.ncbi.nlm.nih.gov/omim/?term=605790	http://www.informatics.jax.org/searchtool/Search.do?query=STK31&submit=Quick%0D%16322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK31	rs4722266	0.21885	0.1612	0.1909	0.15	2	13	exonic	exonic	exonic	STK31	STK31	ENSG00000196335	nonsynonymous SNV	nonsynonymous SNV	unknown	STK31:NM_001260504:exon10:c.G1160A:p.G387E,STK31:NM_001260505:exon10:c.G1229A:p.G410E,STK31:NM_031414:exon10:c.G1229A:p.G410E,STK31:NM_032944:exon10:c.G1160A:p.G387E,	STK31:uc003swt.5:exon10:c.G1160A:p.G387E,STK31:uc010kuq.4:exon10:c.G1160A:p.G387E,STK31:uc003sws.5:exon10:c.G1229A:p.G410E,STK31:uc011jze.3:exon10:c.G1229A:p.G410E,STK31:uc031swr.1:exon10:c.G1160A:p.G387E,	UNKNOWN	Het;G>A	1500;96|79	Hom;G>A	4148;0|155
N	N	-	7	23823144	23823144	A	G	snp	intronic	 	 	 	 	STK31	Stk31	ENSG00000196335	serine/threonine kinase 31	chr7:23749786-23872132	This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Mental Competency; Insulin; Chronic renal failure|Kidney Failure, Chronic; Triglycerides; Tobacco Use Disorder; Monocytes; Heart Rate; Myocardial Infarction	Mice homozygous for a null mutation display normal embryonic development and spermatogenesis.		GO:0006401;RNA catabolic process;IBA|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0004518;nuclease activity;IBA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STK31			https://www.ncbi.nlm.nih.gov/omim/?term=605790	http://www.informatics.jax.org/searchtool/Search.do?query=STK31&submit=Quick%0D%16322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STK31	rs10950961	0.474641	0.4735	0	1	0	0	intronic	intronic	intronic	STK31	STK31	ENSG00000196335	Na	Na	Na	Na	Na	Na	Het;A>G	440;13|20	Hom;A>G	536;0|18
N	N	-	7	2414825	2414825	A	G	snp	intronic	 	 	 	 	EIF3B	Eif3b	ENSG00000106263	eukaryotic translation initiation factor 3 subunit B	chr7:2393721-2420380			Homozygous embryos die prenatally prior to the blastocyst stage.	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0075522;IRES-dependent viral translational initiation;IDA|GO:0075525;viral translational termination-reinitiation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0071541;eukaryotic translation initiation factor 3 complex, eIF3m;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0031369;translation initiation factor binding;IEA|GO:0032947;protein complex scaffold;TAS	http://www.genecards.org/index.php?path=/Search/keyword/EIF3B	https://www.uniprot.org/uniprot/P55884		https://www.ncbi.nlm.nih.gov/omim/?term=603917	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3B&submit=Quick%0D%3469ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3B	rs1548597	0.805711	0	0	1	0	0	intronic	intronic	intronic	EIF3B	EIF3B	ENSG00000106263	Na	Na	Na	Na	Na	Na	Het;A>G	140;7|6	Hom;A>G	92;0|4
N	N	-	7	24481407	24481407	C	T	snp	intergenic	 	 	 	 	NPY	Npy	ENSG00000122585	neuropeptide Y	chr7:24323782-24331484	This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]	progression of carotid atherosclerosis blood pressure and serum lipids; null; macular degeneration; obesity; alcoholism; cholesterol, HDL; triglycerides; coronary heart disease; cholesterol, LDL; cholesterol, total; Edema rosiglitazone or pioglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis, coronary; diabetes, type 1; nephropathy in other diseases; alcohol consumption; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Body Mass Index; alcohol withdrawal; Cardiovascular Diseases|Overweight|Thinness; Stroke; depression; diabetes, type 2; glucose tolerance; metabolic syndrome; Body Weight; physical activity; Alcoholism; Insulin Resistance; atherosclerosis, coronary; Birth Weight|Body Weight; Obesity; Marijuana Abuse|Psychoses, Substance-Induced; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy; Hypercholesterolemia|Hyperlipidemias; glucose tolerance; insulin; vascular disease; cholesterol; Bone Mineral Density; Brain Ischemia|Stroke; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Schizophrenia; Arteriosclerosis|Coronary Disease|Coronary heart disease; Type 2 diabetes; diabetes, type 2; retinopathy, diabetic; Lymphoma, Non-Hodgkin; lipids; blood pressure; atherosclerosis, carotid; Amphetamine-Related Disorders; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; hypertension; Autism; Type 2 Diabetes| edema | rosiglitazone; body mass; Obesity, Morbid; Bulimia; esophageal adenocarcinoma; several psychiatric disorders; body mass leptin obesity, localized; Obesity|Weight Loss; Cardiovascular Diseases|; blood pressure, arterial cortisol glucose heart rate insulin leptin; Seizures, Febrile; diurnal sympathoadrenal balance and pituitary hormone secretion; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; C-Reactive Protein; alcohol; hypertension; birth weight and serum triglyceride concentration; diabetes, type 2 ghrelin insulin; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Alcoholism|Cocaine-Related Disorders|Substance Withdrawal Syndrome; atherosclerosis; Hypercholesterolemia|LDLC levels; schizophrenia; panic disorder; unipolar disorder; Apoplexy|Brain Ischemia|Stroke; bone density; alcohol dependence; alcohol abuse; Chronic renal failure|Kidney Failure, Chronic; lymphoma, non-Hodgkin; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; schizophrenia; Celiac Disease|; Hypercholesterolemia	Mice homozygous for a null allele exhibit sporadic mild seizures and increased susceptibility to PTZ-induced seizures. Mice homozygous for a different null allele show hypoactivity and reduced exploratory behavior, an increased anxiety-related response in males, and increased defecation in females.	G alpha (i) signalling events	GO:0006816;calcium ion transport;TAS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007218;neuropeptide signaling pathway;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007586;digestion;NAS|GO:0007610;behavior;TAS|GO:0007631;feeding behavior;TAS|GO:0008015;blood circulation;NAS|GO:0008217;regulation of blood pressure;IEA|GO:0008283;cell proliferation;TAS|GO:0008343;adult feeding behavior;ISS|GO:0021954;central nervous system neuron development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0031175;neuron projection development;IEP|GO:0032098;regulation of appetite;IBA|GO:0032100;positive regulation of appetite;ISS|GO:0065009;regulation of molecular function;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005623;cell;TAS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA	GO:0001664;G-protein coupled receptor binding;IBA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005102;receptor binding;TAS|GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;TAS|GO:0005246;calcium channel regulator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NPY	https://www.uniprot.org/uniprot/P01303		https://www.ncbi.nlm.nih.gov/omim/?term=162640	http://www.informatics.jax.org/searchtool/Search.do?query=NPY&submit=Quick%0D%5429ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPY	rs73083030	0.0541134	0	0	1	0	0	intergenic	intergenic	intergenic	NPY(dist=149923),MPP6(dist=131558)	NPY(dist=149923),MPP6(dist=131678)	ENSG00000122585(dist=149923),ENSG00000206877(dist=95544)	Na	Na	Na	Na	Na	Na	Het;C>T	874;41|43	Hom;C>T	2146;0|80
N	N	-	7	2486114	2486118	ATGTC	A	indel	ncRNA_exonic	 	 	 	 	LOC101927181																		rs142905887	0.095647	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927181	BC034268	ENSG00000175873	Na	Na	Na	Na	Na	Na	Het;-TGTC	3183;68|84	Hom;-TGTC	7203;0|162
N	N	-	7	2519809	2519809	G	A	snp	intergenic	 	 	 	 	ENSG00000236734																		rs10488611	0.109625	0	0	1	0	0	intergenic	intergenic	intergenic	GRIFIN(dist=3792),LFNG(dist=32354)	BC034268(dist=32324),LFNG(dist=32354)	ENSG00000236734(dist=3281),ENSG00000106003(dist=32354)	Na	Na	Na	Na	Na	Na	Het;G>A	92;1|5	Hom;G>A	106;0|5
N	N	-	7	25618185	25618185	G	A	snp	intergenic	 	 	 	 	ENSG00000222101																		rs739622	0.188898	0	0	1	0	0	intergenic	intergenic	intergenic	NPVF(dist=350080),RNU6-16P(dist=262416)	U3(dist=313684),AK057379(dist=14786)	ENSG00000222101(dist=7807),ENSG00000223561(dist=14786)	Na	Na	Na	Na	Na	Na	Het;G>A	345;10|14	Hom;G>A	737;0|17
N	N	-	7	25918152	25918152	G	A	snp	intergenic	 	 	 	 	AC005165.1																		rs10280127	0.279153	0	0	1	0	0	intergenic	intergenic	intergenic	RNU6-16P(dist=37522),MIR148A(dist=71387)	RNU6-16P(dist=37522),MIR148A(dist=71387)	ENSG00000223561(dist=127538),ENSG00000270933(dist=70125)	Na	Na	Na	Na	Na	Na	Het;G>A	518;28|28	Hom;G>A	1314;0|51
N	N	-	7	2598757	2598757	T	C	snp	UTR5	-59T>C	 	 	 	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs6963930	0.478435	0	0	1	0	0	UTR5	UTR5	UTR5	IQCE(NM_001287500:c.-59T>C,NM_001287499:c.-59T>C,NM_152558:c.-59T>C,NM_001287502:c.-12468T>C,NM_001287501:c.-12468T>C)	IQCE(uc010ksm.1:c.-59T>C,uc003sml.1:c.-59T>C,uc011jvy.1:c.-59T>C,uc011jvz.1:c.-12468T>C,uc003smo.4:c.-59T>C,uc003smk.4:c.-59T>C,uc003smn.4:c.-12468T>C)	ENSG00000106012(ENST00000404984:c.-59T>C,ENST00000402050:c.-59T>C,ENST00000415271:c.-59T>C,ENST00000438376:c.-59T>C,ENST00000325997:c.-59T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	41;6|4	Hom;T>C	211;0|9
N	N	-	7	2611878	2611878	T	C	snp	synonymous SNV	T312C	T104T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs2917751	0.661342	0.7229	0.7299	1	0	0	exonic	exonic	exonic	IQCE	IQCE	ENSG00000106012	synonymous SNV	synonymous SNV	unknown	IQCE:NM_001287502:exon3:c.T117C:p.T39T,IQCE:NM_001287500:exon4:c.T264C:p.T88T,IQCE:NM_001287499:exon5:c.T312C:p.T104T,IQCE:NM_001287501:exon3:c.T117C:p.T39T,IQCE:NM_152558:exon5:c.T312C:p.T104T,	IQCE:uc003sml.1:exon5:c.T312C:p.T104T,IQCE:uc003smk.4:exon4:c.T264C:p.T88T,IQCE:uc010ksm.1:exon5:c.T312C:p.T104T,IQCE:uc011jvz.1:exon3:c.T117C:p.T39T,IQCE:uc011jvy.1:exon4:c.T264C:p.T88T,IQCE:uc003smn.4:exon3:c.T117C:p.T39T,IQCE:uc003smo.4:exon5:c.T312C:p.T104T,	UNKNOWN	Het;T>C	2582;146|125	Hom;T>C	7617;0|279
N	N	-	7	2613042	2613042	G	C	snp	intronic	 	 	 	 	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs2304540	0.693291	0.7610	0.7379	1	0	0	intronic	intronic	intronic	IQCE	IQCE	ENSG00000106012	Na	Na	Na	Na	Na	Na	Het;G>C	1032;52|48	Hom;G>C	2539;0|93
N	N	-	7	2618070	2618070	C	CA	indel	intronic	 	 	 	 	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs3214664	0.308906	0.4015	0.3729	1	0	0	intronic	intronic	intronic	IQCE	IQCE	ENSG00000106012	Na	Na	Na	Na	Na	Na	Het;+A	1197;35|39	Hom;+A	1868;0|51
N	N	-	7	2623351	2623351	G	A	snp	intronic	 	 	 	 	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs13242369	0.319289	0.4060	0.3808	1	0	0	intronic	intronic	intronic	IQCE	IQCE	ENSG00000106012	Na	Na	Na	Na	Na	Na	Het;G>A	333;18|18	Hom;G>A	1647;0|65
N	N	-	7	2626038	2626048	CCAGGGAATGG	C	indel	intronic	 	 	 	 	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs11277394	0.729433	0.7784	0.7336	1	0	0	intronic	intronic	intronic	IQCE	IQCE	ENSG00000106012	Na	Na	Na	Na	Na	Na	Het;-CAGGGAATGG	619;23|28	Hom;-CAGGGAATGG	1483;0|36
N	N	-	7	26386122	26386122	T	A	snp	intronic	 	 	 	 	SNX10	Snx10	ENSG00000086300	sorting nexin 10	chr7:26331541-26413949	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]	Stroke; Hematocrit; Lipoproteins; Glucose; Hemoglobins; Parkinson Disease; Smoking; Triglycerides	Mice homozygous for a hypomorphic allele show postnatal growth retardation, failure of tooth eruption, impaired skeleton development, and osteopetrorickets associated with failed osteoclast activity, high stomach pH, low calcium availability, impaired bone mineralization, and premature death.		GO:0006810;transport;IEA|GO:0006897;endocytosis;IBA|GO:0007032;endosome organization;IMP|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030316;osteoclast differentiation;ISS|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:0071539;protein localization to centrosome;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA	GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;IMP|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNX10	https://www.uniprot.org/uniprot/Q9Y5X0	https://hpo.jax.org/app/browse/search?q=SNX10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614780	http://www.informatics.jax.org/searchtool/Search.do?query=SNX10&submit=Quick%0D%1923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX10	rs3801891	0.503195	0.4087	0.4115	1	0	0	intronic	intronic	intronic	SNX10	SNX10	ENSG00000086300	Na	Na	Na	Na	Na	Na	Het;T>A	930;60|50	Hom;T>A	3508;2|141
N	N	-	7	26386154	26386154	T	C	snp	intronic	 	 	 	 	SNX10	Snx10	ENSG00000086300	sorting nexin 10	chr7:26331541-26413949	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]	Stroke; Hematocrit; Lipoproteins; Glucose; Hemoglobins; Parkinson Disease; Smoking; Triglycerides	Mice homozygous for a hypomorphic allele show postnatal growth retardation, failure of tooth eruption, impaired skeleton development, and osteopetrorickets associated with failed osteoclast activity, high stomach pH, low calcium availability, impaired bone mineralization, and premature death.		GO:0006810;transport;IEA|GO:0006897;endocytosis;IBA|GO:0007032;endosome organization;IMP|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030316;osteoclast differentiation;ISS|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:0071539;protein localization to centrosome;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA	GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;IMP|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNX10	https://www.uniprot.org/uniprot/Q9Y5X0	https://hpo.jax.org/app/browse/search?q=SNX10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614780	http://www.informatics.jax.org/searchtool/Search.do?query=SNX10&submit=Quick%0D%1923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX10	rs3801890	0.525958	0.4212	0	1	0	0	intronic	intronic	intronic	SNX10	SNX10	ENSG00000086300	Na	Na	Na	Na	Na	Na	Het;T>C	561;24|29	Hom;T>C	1870;2|75
N	N	-	7	2644519	2644519	C	T	snp	nonsynonymous SNV	C1442T	A481V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs2293404	0.411741	0.3016	0.3445	0.38	5	13	exonic	exonic	exonic	IQCE	IQCE	ENSG00000106012	nonsynonymous SNV	nonsynonymous SNV	unknown	IQCE:NM_001287502:exon17:c.C1442T:p.A481V,IQCE:NM_001287500:exon18:c.C1589T:p.A530V,IQCE:NM_001287499:exon19:c.C1637T:p.A546V,IQCE:NM_001287501:exon17:c.C1442T:p.A481V,IQCE:NM_152558:exon19:c.C1637T:p.A546V,	IQCE:uc003sml.1:exon19:c.C1637T:p.A546V,IQCE:uc003smk.4:exon18:c.C1589T:p.A530V,IQCE:uc011jvz.1:exon17:c.C1442T:p.A481V,IQCE:uc011jvy.1:exon18:c.C1589T:p.A530V,IQCE:uc003smn.4:exon17:c.C1442T:p.A481V,IQCE:uc003smo.4:exon19:c.C1637T:p.A546V,	UNKNOWN	Het;C>T	1032;57|56	Hom;C>T	2578;0|103
N	N	-	7	2649673	2649673	T	C	snp	intronic	 	 	 	 	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs3735108	0.435903	0.3757	0.4539	1	0	0	intronic	intronic	intronic	IQCE	IQCE	ENSG00000106012	Na	Na	Na	Na	Na	Na	Het;T>C	551;70|30	Hom;T>C	2571;0|93
N	N	-	7	2649704	2649704	T	G	snp	nonsynonymous SNV	T1801G	L601V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs3735109	0	0.3820	0.4557	0.08	1	13	exonic	exonic	exonic	IQCE	IQCE	ENSG00000106012	nonsynonymous SNV	nonsynonymous SNV	unknown	IQCE:NM_001287501:exon20:c.T1801G:p.L601V,IQCE:NM_152558:exon22:c.T1996G:p.L666V,	IQCE:uc003smk.4:exon21:c.T1948G:p.L650V,IQCE:uc003smn.4:exon20:c.T1801G:p.L601V,IQCE:uc003smo.4:exon22:c.T1996G:p.L666V,	UNKNOWN	Het;T>G	901;89|48	Hom;T>G	3211;0|121
N	N	-	7	2649819	2649819	C	T	snp	UTR3	*23C>T	 	 	 	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs3735110	0.440296	0.3771	0.4557	1	0	0	UTR3	UTR3	UTR3	IQCE(NM_152558:c.*23C>T,NM_001287501:c.*23C>T)	IQCE(uc003smo.4:c.*23C>T,uc003smk.4:c.*23C>T,uc003smn.4:c.*23C>T)	ENSG00000106012(ENST00000404984:c.*23C>T,ENST00000402050:c.*23C>T,ENST00000325997:c.*1888C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	652;59|36	Hom;C>T	1994;0|74
N	N	-	7	27135314	27135314	C	T	snp	nonsynonymous SNV	G218A	R73H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	HOXA1	Hoxa1	ENSG00000105991	homeobox A1	chr7:27132612-27135615	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]	several psychiatric disorders; cerebellar volume; head growth; neurodevelopmental psychiatric disorders; autism; Autism	Homozygotes for targeted null mutations die perinatally and exhibit altered and missing rhombomeric structures associated with abnormalities of cranial nerves and ganglia, defects in the skull, and both outer and inner ears, and anoxia at birth.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;TAS|GO:0007605;sensory perception of sound;IDA|GO:0007634;optokinetic behavior;IDA|GO:0009653;anatomical structure morphogenesis;IMP|GO:0021599;abducens nerve formation;IMP|GO:0042473;outer ear morphogenesis;IDA|GO:0048702;embryonic neurocranium morphogenesis;IMP|GO:0048839;inner ear development;IMP|GO:0048844;artery morphogenesis;IMP|GO:0050795;regulation of behavior;IDA|GO:0050890;cognition;IDA|GO:0050905;neuromuscular process;IDA|GO:0060840;artery development;IMP|GO:0060876;semicircular canal formation;IMP|GO:0090102;cochlea development;IMP|GO:0090103;cochlea morphogenesis;IMP	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HOXA1	https://www.uniprot.org/uniprot/P49639	https://hpo.jax.org/app/browse/search?q=HOXA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142955	http://www.informatics.jax.org/searchtool/Search.do?query=HOXA1&submit=Quick%0D%3428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HOXA1	rs10951154	0.780751	0.7304	0.7660	0.08	1	12	exonic	exonic	exonic	HOXA1	HOXA1	ENSG00000105991	nonsynonymous SNV	nonsynonymous SNV	unknown	HOXA1:NM_005522:exon1:c.G218A:p.R73H,HOXA1:NM_153620:exon1:c.G218A:p.R73H,	HOXA1:uc022aao.1:exon1:c.G218A:p.R73H,HOXA1:uc003syd.3:exon1:c.G218A:p.R73H,HOXA1:uc003sye.3:exon1:c.G218A:p.R73H,	UNKNOWN	Het;C>T	2305;8|101	Hom;C>T	1854;2|76
N	N	-	7	27203139	27203139	G	A	snp	ncRNA_exonic	 	 	 	 	HOXA10-HOXA9																		rs7810502	0.63139	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR3	HOXA10-HOXA9	HOXA10-HOXA9	ENSG00000078399(ENST00000343483:c.*83C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1768;101|93	Hom;G>A	4715;2|168
N	N	-	7	27241660	27241660	G	C	snp	ncRNA_exonic	 	 	 	 	HOTTIP																		rs2067087	0.675319	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	HOTTIP	HOTTIP	ENSG00000243766	Na	Na	Na	Na	Na	Na	Het;G>C	1869;126|87	Hom;G>C	4472;0|155
N	N	-	7	27486526	27486526	A	G	snp	intergenic	 	 	 	 	AC004009.1																		rs10273336	0.246406	0	0	1	0	0	intergenic	intergenic	intergenic	EVX1(dist=199088),HIBADH(dist=78533)	BC034444(dist=34016),HIBADH(dist=78533)	ENSG00000224322(dist=36969),ENSG00000233830(dist=11256)	Na	Na	Na	Na	Na	Na	Het;A>G	94;15|7	Hom;A>G	444;0|17
N	N	-	7	28225514	28225514	T	A	snp	ncRNA_intronic	 	 	 	 	JAZF1-AS1																		rs565317	0.939896	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	JAZF1-AS1	JAZF1-AS1	ENSG00000234336	Na	Na	Na	Na	Na	Na	Het;T>A	55;11|5	Hom;T>A	190;0|8
N	N	-	7	28803911	28803911	T	C	snp	intronic	 	 	 	 	CREB5		ENSG00000146592	cAMP responsive element binding protein 5	chr7:28338940-28865511	The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Hypertension; prostate cancer; Asthma; Celiac Disease|; bronchodilator response; Attention Deficit Disorder with Hyperactivity; ADHD | attention-deficit hyperactivity disorder; Blood Pressure	Mice homozygous for a null mutation display neonatal lethality.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IC|GO:0070062;extracellular exosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREB5	https://www.uniprot.org/uniprot/Q02930			http://www.informatics.jax.org/searchtool/Search.do?query=CREB5&submit=Quick%0D%8898ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREB5	rs28531809	0.515775	0	0	1	0	0	intronic	intronic	intronic	CREB5	CREB5	ENSG00000146592	Na	Na	Na	Na	Na	Na	Het;T>C	86;20|8	Hom;T>C	613;0|21
N	N	-	7	29049949	29049949	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs656739	0.362021	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;A>G	1046;61|49	Hom;A>G	2288;0|83
N	N	-	7	29050010	29050010	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs656824	0.472244	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;A>G	1219;98|62	Hom;A>G	3048;0|114
N	N	-	7	29050322	29050322	G	C	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs658474	0.472244	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;G>C	1713;79|75	Hom;G>C	3979;2|139
N	N	-	7	29051210	29051210	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs2648652	0.354633	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;T>C	382;20|16	Hom;T>C	784;0|28
N	N	-	7	29051329	29051330	TA	T	indel	ncRNA_exonic	 	 	 	 	LOC100506497																		rs67068086	0.361022	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;-A	931;63|51	Hom;-A	2313;0|91
N	N	-	7	29051450	29051450	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs486841	0.360623	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;C>T	1922;122|93	Hom;C>T	6355;0|230
N	N	-	7	29051493	29051493	T	C	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs673681	0.361022	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;T>C	4406;160|118	Hom;T>C	10761;2|302
N	N	-	7	29051793	29051794	CT	C	indel	ncRNA_exonic	 	 	 	 	LOC100506497																		rs10706034	0.360423	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;-T	1506;52|75	Hom;-T	3530;0|137
N	N	-	7	29052099	29052099	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs686846	0.485024	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;A>G	1899;102|88	Hom;A>G	4381;0|158
N	N	-	7	29052523	29052523	C	G	snp	ncRNA_exonic	 	 	 	 	LOC100506497																		rs608019	0.475439	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100506497	LOC100506497	ENSG00000272568	Na	Na	Na	Na	Na	Na	Het;C>G	1102;48|42	Hom;C>G	2567;0|81
N	N	-	7	29103867	29103867	T	C	snp	intronic	 	 	 	 	CPVL	Cpvl	ENSG00000106066	carboxypeptidase, vitellogenic like	chr7:29034847-29235067	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance	Mice homozygous for a transposon insertion allele die prior to birth.		GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA	GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPVL	https://www.uniprot.org/uniprot/Q9H3G5		https://www.ncbi.nlm.nih.gov/omim/?term=609780	http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL	rs644763	0.863419	0.8462	0.8565	1	0	0	intronic	intronic	intronic	CPVL	CPVL	ENSG00000106066	Na	Na	Na	Na	Na	Na	Het;T>C	1185;30|32	Hom;T>C	3671;0|87
N	N	-	7	29103877	29103877	T	C	snp	intronic	 	 	 	 	CPVL	Cpvl	ENSG00000106066	carboxypeptidase, vitellogenic like	chr7:29034847-29235067	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance	Mice homozygous for a transposon insertion allele die prior to birth.		GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA	GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPVL	https://www.uniprot.org/uniprot/Q9H3G5		https://www.ncbi.nlm.nih.gov/omim/?term=609780	http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL	rs2074783	0.342053	0.2187	0.2743	1	0	0	intronic	intronic	intronic	CPVL	CPVL	ENSG00000106066	Na	Na	Na	Na	Na	Na	Het;T>C	1128;31|30	Hom;T>C	3505;0|77
N	N	-	7	29103944	29103944	A	AT	indel	intronic	 	 	 	 	CPVL	Cpvl	ENSG00000106066	carboxypeptidase, vitellogenic like	chr7:29034847-29235067	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance	Mice homozygous for a transposon insertion allele die prior to birth.		GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA	GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPVL	https://www.uniprot.org/uniprot/Q9H3G5		https://www.ncbi.nlm.nih.gov/omim/?term=609780	http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL	rs34641639	0.859824	0	0	1	0	0	intronic	intronic	intronic	CPVL	CPVL	ENSG00000106066	Na	Na	Na	Na	Na	Na	Het;+T	239;11|9	Hom;+T	1003;0|28
N	N	-	7	29105776	29105776	A	G	snp	intronic	 	 	 	 	CPVL	Cpvl	ENSG00000106066	carboxypeptidase, vitellogenic like	chr7:29034847-29235067	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance	Mice homozygous for a transposon insertion allele die prior to birth.		GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA	GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPVL	https://www.uniprot.org/uniprot/Q9H3G5		https://www.ncbi.nlm.nih.gov/omim/?term=609780	http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL	rs2270027	0.208466	0.1486	0.1894	1	0	0	intronic	intronic	intronic	CPVL	CPVL	ENSG00000106066	Na	Na	Na	Na	Na	Na	Het;A>G	756;35|37	Hom;A>G	1466;0|56
N	N	-	7	29111578	29111578	A	C	snp	intronic	 	 	 	 	CPVL	Cpvl	ENSG00000106066	carboxypeptidase, vitellogenic like	chr7:29034847-29235067	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance	Mice homozygous for a transposon insertion allele die prior to birth.		GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA	GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPVL	https://www.uniprot.org/uniprot/Q9H3G5		https://www.ncbi.nlm.nih.gov/omim/?term=609780	http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL	rs2074784	0.344449	0	0	1	0	0	intronic	intronic	intronic	CPVL	CPVL	ENSG00000106066	Na	Na	Na	Na	Na	Na	Het;A>C	970;69|49	Hom;A>C	2652;0|94
N	N	-	7	29111634	29111634	C	A	snp	intronic	 	 	 	 	CPVL	Cpvl	ENSG00000106066	carboxypeptidase, vitellogenic like	chr7:29034847-29235067	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance	Mice homozygous for a transposon insertion allele die prior to birth.		GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA	GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPVL	https://www.uniprot.org/uniprot/Q9H3G5		https://www.ncbi.nlm.nih.gov/omim/?term=609780	http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL	rs2074785	0.205871	0	0	1	0	0	intronic	intronic	intronic	CPVL	CPVL	ENSG00000106066	Na	Na	Na	Na	Na	Na	Het;C>A	225;26|11	Hom;C>A	1213;0|27
N	N	-	7	29167852	29167852	C	T	snp	intronic	 	 	 	 	CPVL	Cpvl	ENSG00000106066	carboxypeptidase, vitellogenic like	chr7:29034847-29235067	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance	Mice homozygous for a transposon insertion allele die prior to birth.		GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA	GO:0070062;extracellular exosome;IDA	GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPVL	https://www.uniprot.org/uniprot/Q9H3G5		https://www.ncbi.nlm.nih.gov/omim/?term=609780	http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL	rs245859	0.955871	0	0	1	0	0	intronic	intronic	intronic	CPVL	CPVL	ENSG00000106066,ENSG00000106069	Na	Na	Na	Na	Na	Na	Het;C>T	164;2|8	Hom;C>T	460;0|18
N	N	-	7	30642499	30642499	C	A	snp	intronic	 	 	 	 	GARS	Gars	ENSG00000106105	glycyl-tRNA synthetase	chr7:30634297-30673649	This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression	A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death.  A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice.	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA	GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GARS	https://www.uniprot.org/uniprot/P41250	https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600287	http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS	rs2709809	0.770367	0	0	1	0	0	intronic	intronic	intronic	GARS	GARS	ENSG00000106105	Na	Na	Na	Na	Na	Na	Het;C>A	58;1|3	Hom;C>A	142;0|5
N	N	-	7	31557430	31557430	T	C	snp	UTR5	-35212T>C	 	 	 	CCDC129	Ccdc129	ENSG00000180347	coiled-coil domain containing 129	chr7:31553704-31698334		Tobacco Use Disorder; Body Fat Distribution	 				GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC129				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129	rs217153	0.913938	0	0	1	0	0	intronic	UTR5	UTR5	CCDC129	CCDC129(uc003tci.1:c.-35212T>C,uc003tcj.1:c.-35209T>C)	ENSG00000180347(ENST00000319386:c.-35209T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	37;15|3	Hom;T>C	458;0|14
N	N	-	7	31557514	31557514	T	G	snp	UTR5	-35128T>G	 	 	 	CCDC129	Ccdc129	ENSG00000180347	coiled-coil domain containing 129	chr7:31553704-31698334		Tobacco Use Disorder; Body Fat Distribution	 				GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC129				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129	rs217154	0.913938	0	0	1	0	0	intronic	UTR5	UTR5	CCDC129	CCDC129(uc003tci.1:c.-35128T>G,uc003tcj.1:c.-35125T>G)	ENSG00000180347(ENST00000319386:c.-35125T>G)	Na	Na	Na	Na	Na	Na	Het;T>G	719;51|36	Hom;T>G	2850;0|106
N	N	-	7	31855569	31855569	G	A	snp	synonymous SNV	C1782T	A594A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDE1C	Pde1c	ENSG00000154678	phosphodiesterase 1C	chr7:31790793-32338941	This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]	Lipoproteins, VLDL; Arteries; Tobacco Use Disorder; Smoking; Erythrocytes; Tunica Media; Glucose; Celiac Disease|; Apolipoproteins B; Triglycerides	Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination.	Cam-PDE 1 activation	GO:0007165;signal transduction;IEA|GO:0007608;sensory perception of smell;IEA	GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004117;calmodulin-dependent cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE1C	https://www.uniprot.org/uniprot/Q14123	https://hpo.jax.org/app/browse/search?q=PDE1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602987	http://www.informatics.jax.org/searchtool/Search.do?query=PDE1C&submit=Quick%0D%9795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE1C	rs2302450	0.234625	0.2396	0.2393	1	0	0	exonic	exonic	exonic	PDE1C	PDE1C	ENSG00000154678	synonymous SNV	synonymous SNV	unknown	PDE1C:NM_001191056:exon15:c.C1782T:p.A594A,PDE1C:NM_001191059:exon16:c.C1782T:p.A594A,PDE1C:NM_001191058:exon16:c.C1962T:p.A654A,PDE1C:NM_001191057:exon15:c.C1782T:p.A594A,PDE1C:NM_005020:exon16:c.C1782T:p.A594A,	PDE1C:uc003tcs.3:exon16:c.C1782T:p.A594A,PDE1C:uc003tco.2:exon16:c.C1962T:p.A654A,PDE1C:uc003tcn.1:exon16:c.C1782T:p.A594A,PDE1C:uc003tcm.2:exon15:c.C1782T:p.A594A,PDE1C:uc003tcr.3:exon15:c.C1782T:p.A594A,	UNKNOWN	Het;G>A	827;25|37	Hom;G>A	3482;0|78
N	N	-	7	3197867	3197867	T	C	snp	unknown	 	 	 	 	AC073316.1																		rs4634530	0.448283	0	0.4670	1	0	0	ncRNA_exonic	ncRNA_exonic	exonic	LOC100129603	BC038729	ENSG00000217455	Na	Na	unknown	Na	Na	UNKNOWN	Het;T>C	617;35|33	Hom;T>C	1297;0|49
N	N	-	7	32956338	32956338	C	G	snp	downstream	 	 	 	 	RP9P																		rs3801335	0.698882	0	0	1	0	0	downstream	intronic	intronic	RP9P	AVL9	ENSG00000105778	Na	Na	Na	Na	Na	Na	Het;C>G	255;17|13	Hom;C>G	1312;0|46
N	N	-	7	32956941	32956941	C	T	snp	ncRNA_exonic	 	 	 	 	RP9P																		rs2278817	0.328874	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	RP9P	RP9P(uc011kaj.3:c.*268G>A)	ENSG00000205763	Na	Na	Na	Na	Na	Na	Het;C>T	2284;75|109	Hom;C>T	2285;5|92
N	N	-	7	32961023	32961023	A	G	snp	nonsynonymous SNV	T178C	W60R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	RP9P																		rs2893440	0.691693	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	RP9P	RP9P	ENSG00000205763	Na	nonsynonymous SNV	Na	Na	RP9P:uc011kaj.3:exon3:c.T178C:p.W60R,	Na	Het;A>G	461;44|28	Hom;A>G	1909;0|73
N	N	-	7	32968342	32968342	T	C	snp	ncRNA_intronic	 	 	 	 	RP9P																		rs2060730	0.847644	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	RP9P	AVL9,RP9P	ENSG00000205763	Na	Na	Na	Na	Na	Na	Het;T>C	126;10|7	Hom;T>C	485;0|15
N	N	-	7	33138875	33138875	A	T	snp	intronic	 	 	 	 	RP9	Rp9	ENSG00000164610	retinitis pigmentosa 9 (autosomal dominant)	chr7:33134409-33149013	The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]	Retinal Diseases	 		GO:0008380;RNA splicing;TAS|GO:0050890;cognition;IMP	GO:0005634;nucleus;IEA|GO:0005785;signal recognition particle receptor complex;IEA|GO:0005829;cytosol;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RP9		https://hpo.jax.org/app/browse/search?q=RP9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607331	http://www.informatics.jax.org/searchtool/Search.do?query=RP9&submit=Quick%0D%11343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RP9	rs11771864	0.567093	0.5551	0.5169	1	0	0	intronic	intronic	intronic	RP9	RP9	ENSG00000164610	Na	Na	Na	Na	Na	Na	Het;A>T	292;20|15	Hom;A>T	1217;0|45
N	N	-	7	33139147	33139147	G	A	snp	intronic	 	 	 	 	RP9	Rp9	ENSG00000164610	retinitis pigmentosa 9 (autosomal dominant)	chr7:33134409-33149013	The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]	Retinal Diseases	 		GO:0008380;RNA splicing;TAS|GO:0050890;cognition;IMP	GO:0005634;nucleus;IEA|GO:0005785;signal recognition particle receptor complex;IEA|GO:0005829;cytosol;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RP9		https://hpo.jax.org/app/browse/search?q=RP9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607331	http://www.informatics.jax.org/searchtool/Search.do?query=RP9&submit=Quick%0D%11343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RP9	rs17472556	0.497804	0	0	1	0	0	intronic	intronic	intronic	RP9	RP9	ENSG00000164610	Na	Na	Na	Na	Na	Na	Het;G>A	397;8|15	Hom;G>A	945;0|34
N	N	-	7	34790123	34790123	T	C	snp	ncRNA_exonic	 	 	 	 	NCAPD2P1																		rs324396	0.730431	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	NPSR1-AS1	NPSR1-AS1	ENSG00000230356	Na	Na	Na	Na	Na	Na	Het;T>C	151;7|8	Hom;T>C	694;0|26
N	N	-	7	34932906	34932906	G	A	snp	downstream	 	 	 	 	SNORA31																		rs6462583	0.314896	0	0	1	0	0	intergenic	intergenic	downstream	NPSR1(dist=14962),DPY19L1(dist=35587)	NPSR1(dist=14962),DPY19L1(dist=35587)	ENSG00000251802	Na	Na	Na	Na	Na	Na	Het;G>A	158;18|10	Hom;G>A	1188;0|46
N	N	-	7	34932979	34932979	A	G	snp	downstream	 	 	 	 	SNORA31																		rs995086	0.314497	0	0	1	0	0	intergenic	intergenic	downstream	NPSR1(dist=15035),DPY19L1(dist=35514)	NPSR1(dist=15035),DPY19L1(dist=35514)	ENSG00000251802	Na	Na	Na	Na	Na	Na	Het;A>G	196;21|11	Hom;A>G	953;0|31
N	N	-	7	35576990	35576990	G	A	snp	intergenic	 	 	 	 	AC007652.1																		rs6962285	0.458666	0	0	1	0	0	intergenic	intergenic	intergenic	LOC401324(dist=160904),HERPUD2(dist=95280)	LOC401324(dist=160904),HERPUD2(dist=95280)	ENSG00000235464(dist=27117),ENSG00000122557(dist=95279)	Na	Na	Na	Na	Na	Na	Het;G>A	165;2|5	Hom;G>A	312;0|8
N	N	-	7	35576991	35576991	G	A	snp	intergenic	 	 	 	 	AC007652.1																		rs6962286	0.457268	0	0	1	0	0	intergenic	intergenic	intergenic	LOC401324(dist=160905),HERPUD2(dist=95279)	LOC401324(dist=160905),HERPUD2(dist=95279)	ENSG00000235464(dist=27118),ENSG00000122557(dist=95278)	Na	Na	Na	Na	Na	Na	Het;G>A	165;2|5	Hom;G>A	312;0|7
N	N	-	7	36447349	36447349	A	ACTT	indel	nonframeshift substitution	616_616delinsACTT	 	 	 	ANLN	Anln	ENSG00000011426	anillin actin binding protein	chr7:36429415-36493400	This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]	Waist-Hip Ratio; Eosinophils; Body Mass Index	 		GO:0000281;mitotic cytokinesis;IDA|GO:0000921;septin ring assembly;TAS|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007049;cell cycle;IEA|GO:0007096;regulation of exit from mitosis;TAS|GO:0051301;cell division;IEA|GO:0090521;glomerular visceral epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0003779;actin binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANLN	https://www.uniprot.org/uniprot/Q9NQW6	https://hpo.jax.org/app/browse/search?q=ANLN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616027	http://www.informatics.jax.org/searchtool/Search.do?query=ANLN&submit=Quick%0D%559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANLN	rs143969069	0.449481	0.3839	0.4258	1	0	0	exonic	exonic	exonic	ANLN	ANLN	ENSG00000011426	nonframeshift substitution	nonframeshift substitution	unknown	ANLN:NM_001284302:exon5:c.880_880delinsACTT,ANLN:NM_001284301:exon5:c.880_880delinsACTT,ANLN:NM_018685:exon5:c.880_880delinsACTT,	ANLN:uc011kaz.2:exon5:c.616_616delinsACTT,ANLN:uc010kxe.3:exon5:c.880_880delinsACTT,ANLN:uc003tfg.3:exon5:c.880_880delinsACTT,ANLN:uc003tff.3:exon5:c.880_880delinsACTT,	UNKNOWN	Het;+CTT	997;22|26	Hom;+CTT	1947;0|43
N	N	-	7	36447600	36447600	T	C	snp	intronic	 	 	 	 	ANLN	Anln	ENSG00000011426	anillin actin binding protein	chr7:36429415-36493400	This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]	Waist-Hip Ratio; Eosinophils; Body Mass Index	 		GO:0000281;mitotic cytokinesis;IDA|GO:0000921;septin ring assembly;TAS|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007049;cell cycle;IEA|GO:0007096;regulation of exit from mitosis;TAS|GO:0051301;cell division;IEA|GO:0090521;glomerular visceral epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0003779;actin binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANLN	https://www.uniprot.org/uniprot/Q9NQW6	https://hpo.jax.org/app/browse/search?q=ANLN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616027	http://www.informatics.jax.org/searchtool/Search.do?query=ANLN&submit=Quick%0D%559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANLN	rs3801315	0.449481	0.3811	0.4616	1	0	0	intronic	intronic	intronic	ANLN	ANLN	ENSG00000011426	Na	Na	Na	Na	Na	Na	Het;T>C	233;10|11	Hom;T>C	867;0|29
N	N	-	7	36463335	36463335	A	G	snp	intronic	 	 	 	 	ANLN	Anln	ENSG00000011426	anillin actin binding protein	chr7:36429415-36493400	This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]	Waist-Hip Ratio; Eosinophils; Body Mass Index	 		GO:0000281;mitotic cytokinesis;IDA|GO:0000921;septin ring assembly;TAS|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007049;cell cycle;IEA|GO:0007096;regulation of exit from mitosis;TAS|GO:0051301;cell division;IEA|GO:0090521;glomerular visceral epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0003779;actin binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANLN	https://www.uniprot.org/uniprot/Q9NQW6	https://hpo.jax.org/app/browse/search?q=ANLN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616027	http://www.informatics.jax.org/searchtool/Search.do?query=ANLN&submit=Quick%0D%559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANLN	rs2302527	0.536142	0	0	1	0	0	intronic	intronic	intronic	ANLN	ANLN	ENSG00000011426	Na	Na	Na	Na	Na	Na	Het;A>G	429;8|13	Hom;A>G	536;0|15
N	N	-	7	36465570	36465570	T	C	snp	intronic	 	 	 	 	ANLN	Anln	ENSG00000011426	anillin actin binding protein	chr7:36429415-36493400	This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]	Waist-Hip Ratio; Eosinophils; Body Mass Index	 		GO:0000281;mitotic cytokinesis;IDA|GO:0000921;septin ring assembly;TAS|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007049;cell cycle;IEA|GO:0007096;regulation of exit from mitosis;TAS|GO:0051301;cell division;IEA|GO:0090521;glomerular visceral epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;IDA	GO:0003779;actin binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANLN	https://www.uniprot.org/uniprot/Q9NQW6	https://hpo.jax.org/app/browse/search?q=ANLN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616027	http://www.informatics.jax.org/searchtool/Search.do?query=ANLN&submit=Quick%0D%559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANLN	rs6957214	0.535144	0.5197	0	1	0	0	intronic	intronic	intronic	ANLN	ANLN	ENSG00000011426	Na	Na	Na	Na	Na	Na	Het;T>C	201;10|8	Hom;T>C	345;0|12
N	N	-	7	36569907	36569907	G	A	snp	intronic	 	 	 	 	AOAH	Aoah	ENSG00000136250	acyloxyacyl hydrolase	chr7:36552456-36764154	This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]	HIV-1; Tobacco Use Disorder; Blood Pressure; asthma; Hypertension; Parkinson Disease	Homozygous null mice have a reduced ability to deacylate bacterial lipopolysaccharides.		GO:0006629;lipid metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0008653;lipopolysaccharide metabolic process;IEA|GO:0050728;negative regulation of inflammatory response;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;TAS|GO:0004465;lipoprotein lipase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050528;acyloxyacyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AOAH	https://www.uniprot.org/uniprot/P28039		https://www.ncbi.nlm.nih.gov/omim/?term=102593	http://www.informatics.jax.org/searchtool/Search.do?query=AOAH&submit=Quick%0D%7318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AOAH	rs3735393	0.375998	0	0	1	0	0	intronic	intronic	intronic	AOAH	AOAH	ENSG00000136250	Na	Na	Na	Na	Na	Na	Het;G>A	174;2|6	Hom;G>A	212;0|7
N	N	-	7	36698592	36698592	T	G	snp	intronic	 	 	 	 	AOAH	Aoah	ENSG00000136250	acyloxyacyl hydrolase	chr7:36552456-36764154	This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]	HIV-1; Tobacco Use Disorder; Blood Pressure; asthma; Hypertension; Parkinson Disease	Homozygous null mice have a reduced ability to deacylate bacterial lipopolysaccharides.		GO:0006629;lipid metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0008653;lipopolysaccharide metabolic process;IEA|GO:0050728;negative regulation of inflammatory response;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;TAS|GO:0004465;lipoprotein lipase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050528;acyloxyacyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AOAH	https://www.uniprot.org/uniprot/P28039		https://www.ncbi.nlm.nih.gov/omim/?term=102593	http://www.informatics.jax.org/searchtool/Search.do?query=AOAH&submit=Quick%0D%7318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AOAH	rs6979282	0.733227	0	0	1	0	0	intronic	intronic	intronic	AOAH	AOAH	ENSG00000136250	Na	Na	Na	Na	Na	Na	Het;T>G	181;3|6	Hom;T>G	94;0|4
N	N	-	7	36698684	36698684	C	T	snp	intronic	 	 	 	 	AOAH	Aoah	ENSG00000136250	acyloxyacyl hydrolase	chr7:36552456-36764154	This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]	HIV-1; Tobacco Use Disorder; Blood Pressure; asthma; Hypertension; Parkinson Disease	Homozygous null mice have a reduced ability to deacylate bacterial lipopolysaccharides.		GO:0006629;lipid metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0008653;lipopolysaccharide metabolic process;IEA|GO:0050728;negative regulation of inflammatory response;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;TAS|GO:0004465;lipoprotein lipase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050528;acyloxyacyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AOAH	https://www.uniprot.org/uniprot/P28039		https://www.ncbi.nlm.nih.gov/omim/?term=102593	http://www.informatics.jax.org/searchtool/Search.do?query=AOAH&submit=Quick%0D%7318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AOAH	rs6959295	0.356829	0	0	1	0	0	intronic	intronic	intronic	AOAH	AOAH	ENSG00000136250	Na	Na	Na	Na	Na	Na	Het;C>T	322;14|13	Hom;C>T	678;0|21
N	N	-	7	36763672	36763672	C	T	snp	nonsynonymous SNV	G82A	D28N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	AOAH	Aoah	ENSG00000136250	acyloxyacyl hydrolase	chr7:36552456-36764154	This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]	HIV-1; Tobacco Use Disorder; Blood Pressure; asthma; Hypertension; Parkinson Disease	Homozygous null mice have a reduced ability to deacylate bacterial lipopolysaccharides.		GO:0006629;lipid metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0008653;lipopolysaccharide metabolic process;IEA|GO:0050728;negative regulation of inflammatory response;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;TAS|GO:0004465;lipoprotein lipase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050528;acyloxyacyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AOAH	https://www.uniprot.org/uniprot/P28039		https://www.ncbi.nlm.nih.gov/omim/?term=102593	http://www.informatics.jax.org/searchtool/Search.do?query=AOAH&submit=Quick%0D%7318ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AOAH	rs2228410	0.351038	0.2670	0.3714	0.08	1	12	exonic	exonic	exonic	AOAH	AOAH	ENSG00000136250	nonsynonymous SNV	nonsynonymous SNV	unknown	AOAH:NM_001177507:exon1:c.G82A:p.D28N,AOAH:NM_001637:exon1:c.G82A:p.D28N,	AOAH:uc011kba.2:exon1:c.G82A:p.D28N,AOAH:uc003tfh.4:exon1:c.G82A:p.D28N,AOAH:uc022abu.1:exon1:c.G82A:p.D28N,	UNKNOWN	Het;C>T	1000;50|48	Hom;C>T	3010;0|118
N	N	-	7	37889786	37889786	A	G	snp	intronic	 	 	 	 	NME8	Nme8	ENSG00000086288	NME/NM23 family member 8	chr7:37888199-37940003	This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]	osteoarthritis; Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Lipoproteins; Tobacco Use Disorder	Homozygous mutant displays normal reproductive system phenotype		GO:0006165;nucleoside diphosphate phosphorylation;IEA|GO:0006183;GTP biosynthetic process;IEA|GO:0006228;UTP biosynthetic process;IEA|GO:0006241;CTP biosynthetic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0045454;cell redox homeostasis;IEA|GO:0060271;cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0036157;outer dynein arm;IMP|GO:0097228;sperm principal piece;IEA|GO:0097598;sperm cytoplasmic droplet;IEA	GO:0004550;nucleoside diphosphate kinase activity;IEA|GO:0008017;microtubule binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NME8	https://www.uniprot.org/uniprot/Q8N427	https://hpo.jax.org/app/browse/search?q=NME8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607421	http://www.informatics.jax.org/searchtool/Search.do?query=NME8&submit=Quick%0D%1921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NME8	rs10271309	0.295727	0.3617	0	1	0	0	intronic	intronic	intronic	NME8	NME8	ENSG00000086288,ENSG00000086289	Na	Na	Na	Na	Na	Na	Het;A>G	284;11|11	Hom;A>G	477;1|16
N	N	-	7	38703877	38703877	A	AAGGGC	indel	intergenic	 	 	 	 	KRT8P20																		rs144120801	0.472045	0	0	1	0	0	intergenic	intergenic	intergenic	AMPH(dist=32710),FAM183B(dist=21069)	AMPH(dist=32710),FAM183B(dist=21069)	ENSG00000227404(dist=7664),ENSG00000164556(dist=21069)	Na	Na	Na	Na	Na	Na	Het;+AGGGC	41;2|2	Hom;+AGGGC	221;0|6
N	N	-	7	38781822	38781822	C	T	snp	intronic	 	 	 	 	VPS41	Vps41	ENSG00000006715	VPS41, HOPS complex subunit	chr7:38762563-38971994	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Tobacco Use Disorder; Cognitive performance; Parkinson Disease; CD40 Ligand; Psychomotor Performance; Socioeconomic Factors; Cholesterol, HDL; Carotid Artery Diseases; Tunica Media	Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development.		GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006914;autophagy;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP|GO:0035542;regulation of SNARE complex assembly;IBA|GO:0042144;vacuole fusion, non-autophagic;IBA|GO:0045055;regulated exocytosis;IEA|GO:1902774;late endosome to lysosome transport;IMP	GO:0005622;intracellular;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;IEA|GO:0010008;endosome membrane;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IDA|GO:0033263;CORVET complex;IBA|GO:0071439;clathrin complex;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0046872;metal ion binding;IEA|GO:0051020;GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/VPS41	https://www.uniprot.org/uniprot/P49754		https://www.ncbi.nlm.nih.gov/omim/?term=605485	http://www.informatics.jax.org/searchtool/Search.do?query=VPS41&submit=Quick%0D%418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS41	rs17700392	0.333666	0	0	1	0	0	intronic	intronic	intronic	VPS41	VPS41	ENSG00000006715	Na	Na	Na	Na	Na	Na	Het;C>T	440;15|17	Hom;C>T	733;0|22
N	N	-	7	38781854	38781854	T	C	snp	intronic	 	 	 	 	VPS41	Vps41	ENSG00000006715	VPS41, HOPS complex subunit	chr7:38762563-38971994	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Tobacco Use Disorder; Cognitive performance; Parkinson Disease; CD40 Ligand; Psychomotor Performance; Socioeconomic Factors; Cholesterol, HDL; Carotid Artery Diseases; Tunica Media	Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development.		GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006914;autophagy;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP|GO:0035542;regulation of SNARE complex assembly;IBA|GO:0042144;vacuole fusion, non-autophagic;IBA|GO:0045055;regulated exocytosis;IEA|GO:1902774;late endosome to lysosome transport;IMP	GO:0005622;intracellular;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;IEA|GO:0010008;endosome membrane;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IDA|GO:0033263;CORVET complex;IBA|GO:0071439;clathrin complex;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0046872;metal ion binding;IEA|GO:0051020;GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/VPS41	https://www.uniprot.org/uniprot/P49754		https://www.ncbi.nlm.nih.gov/omim/?term=605485	http://www.informatics.jax.org/searchtool/Search.do?query=VPS41&submit=Quick%0D%418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS41	rs11979824	0.346446	0	0	1	0	0	intronic	intronic	intronic	VPS41	VPS41	ENSG00000006715	Na	Na	Na	Na	Na	Na	Het;T>C	195;5|8	Hom;T>C	282;0|9
N	N	-	7	38782944	38782944	A	G	snp	intronic	 	 	 	 	VPS41	Vps41	ENSG00000006715	VPS41, HOPS complex subunit	chr7:38762563-38971994	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Tobacco Use Disorder; Cognitive performance; Parkinson Disease; CD40 Ligand; Psychomotor Performance; Socioeconomic Factors; Cholesterol, HDL; Carotid Artery Diseases; Tunica Media	Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development.		GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006914;autophagy;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP|GO:0035542;regulation of SNARE complex assembly;IBA|GO:0042144;vacuole fusion, non-autophagic;IBA|GO:0045055;regulated exocytosis;IEA|GO:1902774;late endosome to lysosome transport;IMP	GO:0005622;intracellular;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;IEA|GO:0010008;endosome membrane;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IDA|GO:0033263;CORVET complex;IBA|GO:0071439;clathrin complex;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0046872;metal ion binding;IEA|GO:0051020;GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/VPS41	https://www.uniprot.org/uniprot/P49754		https://www.ncbi.nlm.nih.gov/omim/?term=605485	http://www.informatics.jax.org/searchtool/Search.do?query=VPS41&submit=Quick%0D%418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS41	rs11971020	0.334665	0	0	1	0	0	intronic	intronic	intronic	VPS41	VPS41	ENSG00000006715	Na	Na	Na	Na	Na	Na	Het;A>G	439;20|21	Hom;A>G	1038;0|38
N	N	-	7	38860933	38860933	A	G	snp	intronic	 	 	 	 	VPS41	Vps41	ENSG00000006715	VPS41, HOPS complex subunit	chr7:38762563-38971994	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]	C-Reactive Protein; Tobacco Use Disorder; Cognitive performance; Parkinson Disease; CD40 Ligand; Psychomotor Performance; Socioeconomic Factors; Cholesterol, HDL; Carotid Artery Diseases; Tunica Media	Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development.		GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006914;autophagy;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP|GO:0035542;regulation of SNARE complex assembly;IBA|GO:0042144;vacuole fusion, non-autophagic;IBA|GO:0045055;regulated exocytosis;IEA|GO:1902774;late endosome to lysosome transport;IMP	GO:0005622;intracellular;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;IEA|GO:0010008;endosome membrane;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IDA|GO:0033263;CORVET complex;IBA|GO:0071439;clathrin complex;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0046872;metal ion binding;IEA|GO:0051020;GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/VPS41	https://www.uniprot.org/uniprot/P49754		https://www.ncbi.nlm.nih.gov/omim/?term=605485	http://www.informatics.jax.org/searchtool/Search.do?query=VPS41&submit=Quick%0D%418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS41	rs56002981	0.33726	0.2122	0	1	0	0	intronic	intronic	intronic	VPS41	VPS41	ENSG00000006715	Na	Na	Na	Na	Na	Na	Het;A>G	138;14|8	Hom;A>G	754;0|27
N	N	-	7	39894004	39894004	T	C	snp	ncRNA_intronic	 	 	 	 	AC004987.3																		rs4421259	0.780152	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC00265(dist=59782),CDK13(dist=95955)	LINC00265(dist=59782),CDK13(dist=95955)	ENSG00000237251	Na	Na	Na	Na	Na	Na	Het;T>C	441;33|19	Hom;T>C	1027;0|29
N	N	-	7	40402430	40402430	A	G	snp	intronic	 	 	 	 	SUGCT	Sugct	ENSG00000175600	succinyl-CoA:glutarate-CoA transferase	chr7:40174575-40900362	This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]	Type 2 Diabetes| edema | rosiglitazone; Prostatic Neoplasms; Ferritins; Body Height; Coronary Artery Disease; Acquired Immunodeficiency Syndrome|Disease Progression; Heart Failure; Vitamin D; Body Fat Distribution; Cardiomegaly; Menarche; Body Mass Index; Pancreatic Neoplasms; Neuropsychological Tests; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Tobacco Use Disorder	 			GO:0005739;mitochondrion;IEA	GO:0003824;catalytic activity;IEA|GO:0016740;transferase activity;IEA|GO:0047369;succinate-hydroxymethylglutarate CoA-transferase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SUGCT		https://hpo.jax.org/app/browse/search?q=SUGCT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609187	http://www.informatics.jax.org/searchtool/Search.do?query=SUGCT&submit=Quick%0D%13731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUGCT	rs6945101	0.583666	0	0	1	0	0	intronic	intronic	intronic	SUGCT	C7orf10	ENSG00000175600	Na	Na	Na	Na	Na	Na	Het;A>G	592;26|29	Hom;A>G	1218;0|47
N	N	-	7	41170649	41170649	A	T	snp	ncRNA_intronic	 	 	 	 	LINC01449																		rs1859693	0.691294	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01449	C7orf10(dist=270283),INHBA(dist=557952)	ENSG00000224017	Na	Na	Na	Na	Na	Na	Het;A>T	43;2|3	Hom;A>T	118;0|4
N	N	-	7	41172935	41172935	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01449																		rs4720398	0.694489	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01449	C7orf10(dist=272569),INHBA(dist=555666)	ENSG00000224017	Na	Na	Na	Na	Na	Na	Het;A>C	707;99|42	Hom;A>C	1835;8|89
N	N	-	7	41222632	41222632	A	C	snp	intergenic	 	 	 	 	LINC01449																		rs39775	0.780751	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01449(dist=49533),INHBA(dist=505969)	C7orf10(dist=322266),INHBA(dist=505969)	ENSG00000224017(dist=49527),ENSG00000236310(dist=484134)	Na	Na	Na	Na	Na	Na	Het;A>C	64;3|3	Hom;A>C	250;0|9
N	N	-	7	42064852	42064852	C	G	snp	intronic	 	 	 	 	GLI3	Gli3	ENSG00000106571	GLI family zinc finger 3	chr7:42000548-42277469	This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]	Albuminuria; Bone Mineral Density; Heart Failure; Socioeconomic Factors; Abnormalities, Multiple|Craniofacial Abnormalities|Mouth Abnormalities|Pallister-Hall syndrome|Polydactyly|Syndactyly; anorectal malformations; Chromosome Aberrations|Chromosome abnormality|Hamartoma|Hypothalamic Diseases; talipes equinovarus; Iron; Inflammation; colorectal cancer; Cleft Lip|Cleft Palate; Body Mass Index; Rhinitis, Allergic, Seasonal	Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001656;metanephros development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;TAS|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016485;protein processing;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021537;telencephalon development;IEA|GO:0021543;pallium development;IEA|GO:0021544;subpallium development;IEA|GO:0021631;optic nerve morphogenesis;IEA|GO:0021766;hippocampus development;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021798;forebrain dorsal/ventral pattern formation;IEA|GO:0021801;cerebral cortex radial glia guided migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021861;forebrain radial glial cell differentiation;IEA|GO:0021915;neural tube development;IEA|GO:0022018;lateral ganglionic eminence cell proliferation;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030879;mammary gland development;IEA|GO:0030900;forebrain development;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0035108;limb morphogenesis;IMP|GO:0035295;tube development;IEA|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042307;positive regulation of protein import into nucleus;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;TAS|GO:0042981;regulation of apoptotic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043585;nose morphogenesis;TAS|GO:0043586;tongue development;IEA|GO:0043627;response to estrogen;IEA|GO:0045060;negative thymic T cell selection;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046639;negative regulation of alpha-beta T cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048566;embryonic digestive tract development;TAS|GO:0048568;embryonic organ development;IEA|GO:0048589;developmental growth;IEA|GO:0048593;camera-type eye morphogenesis;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048839;inner ear development;IEA|GO:0048856;anatomical structure development;IEA|GO:0060021;palate development;IEA|GO:0060173;limb development;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060366;lambdoid suture morphogenesis;IEA|GO:0060367;sagittal suture morphogenesis;IEA|GO:0060594;mammary gland specification;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0060840;artery development;IEA|GO:0060873;anterior semicircular canal development;IEA|GO:0060875;lateral semicircular canal development;IEA|GO:0061005;cell differentiation involved in kidney development;IEA|GO:0070242;thymocyte apoptotic process;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:1903010;regulation of bone development;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IDA|GO:0005930;axoneme;IEA|GO:0016592;mediator complex;IDA|GO:0016607;nuclear speck;IEA|GO:0017053;transcriptional repressor complex;IEA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0035035;histone acetyltransferase binding;IPI|GO:0042826;histone deacetylase binding;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLI3	https://www.uniprot.org/uniprot/P10071	https://hpo.jax.org/app/browse/search?q=GLI3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165240	http://www.informatics.jax.org/searchtool/Search.do?query=GLI3&submit=Quick%0D%3520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI3	rs846273	0.963458	0.9678	0.9735	1	0	0	intronic	intronic	intronic	GLI3	GLI3	ENSG00000106571	Na	Na	Na	Na	Na	Na	Het;C>G	1069;66|52	Hom;C>G	2572;0|94
N	N	-	7	4273289	4273289	C	T	snp	intronic	 	 	 	 	SDK1	Sdk1	ENSG00000146555	sidekick cell adhesion molecule 1	chr7:3341080-4308632	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation	 	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0042802;identical protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SDK1	https://www.uniprot.org/uniprot/Q7Z5N4		https://www.ncbi.nlm.nih.gov/omim/?term=607216	http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1	rs17134653	0.127396	0	0	1	0	0	intronic	intronic	intronic	SDK1	SDK1	ENSG00000146555	Na	Na	Na	Na	Na	Na	Het;C>T	137;3|6	Hom;C>T	177;0|7
N	N	-	7	4304623	4304623	T	G	snp	intronic	 	 	 	 	SDK1	Sdk1	ENSG00000146555	sidekick cell adhesion molecule 1	chr7:3341080-4308632	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation	 	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0042802;identical protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SDK1	https://www.uniprot.org/uniprot/Q7Z5N4		https://www.ncbi.nlm.nih.gov/omim/?term=607216	http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1	rs73303727	0.301917	0	0	1	0	0	intronic	intronic	intronic	SDK1	SDK1	ENSG00000146555	Na	Na	Na	Na	Na	Na	Het;T>G	145;7|5	Hom;T>G	183;0|5
N	N	-	7	43077167	43077167	G	T	snp	ncRNA_intronic	 	 	 	 	AC005537.1																		rs7786740	0.833666	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MRPL32(dist=99714),HECW1(dist=75031)	MRPL32(dist=99714),HECW1(dist=75031)	ENSG00000232006	Na	Na	Na	Na	Na	Na	Het;G>T	336;17|18	Hom;G>T	624;0|24
N	N	-	7	43077222	43077222	A	G	snp	ncRNA_intronic	 	 	 	 	AC005537.1																		rs7786485	0.833666	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MRPL32(dist=99769),HECW1(dist=74976)	MRPL32(dist=99769),HECW1(dist=74976)	ENSG00000232006	Na	Na	Na	Na	Na	Na	Het;A>G	111;10|7	Hom;A>G	329;0|12
N	N	-	7	43188186	43188186	G	A	snp	ncRNA_intronic	 	 	 	 	AX748020																		rs7787356	0.445887	0	0	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	HECW1	AX748020	ENSG00000181211	Na	Na	Na	Na	Na	Na	Het;G>A	180;13|9	Hom;G>A	347;0|12
N	N	-	7	43190479	43190479	T	G	snp	ncRNA_intronic	 	 	 	 	AX748020																		rs12702015	0.455072	0	0.4546	1	0	0	intronic	ncRNA_intronic	ncRNA_intronic	HECW1	AX748020	ENSG00000181211	Na	Na	Na	Na	Na	Na	Het;T>G	563;25|26	Hom;T>G	1087;4|40
N	N	-	7	43671232	43671232	C	T	snp	UTR3	*1909G>A	 	 	 	COA1	 	ENSG00000106603	cytochrome c oxidase assembly factor 1 homolog	chr7:43648055-43769316			 		GO:0006412;translation;IBA|GO:0032981;mitochondrial respiratory chain complex I assembly;IMP|GO:0033617;mitochondrial respiratory chain complex IV assembly;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0022625;cytosolic large ribosomal subunit;IBA|GO:0031305;integral component of mitochondrial inner membrane;IDA	GO:0003723;RNA binding;IBA|GO:0003735;structural constituent of ribosome;IBA	http://www.genecards.org/index.php?path=/Search/keyword/COA1	https://www.uniprot.org/uniprot/Q9GZY4		https://www.ncbi.nlm.nih.gov/omim/?term=614769	http://www.informatics.jax.org/searchtool/Search.do?query=COA1&submit=Quick%0D%3523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COA1	rs2330918	0.792133	0	0	1	0	0	intergenic	intergenic	UTR3	STK17A(dist=4254),COA1(dist=7614)	STK17A(dist=4254),COA1(dist=7614)	ENSG00000106603(ENST00000438444:c.*1909G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	585;38|31	Hom;C>T	1444;0|55
N	N	-	7	43959493	43959493	G	A	snp	ncRNA_exonic	 	 	 	 	TUBG1P																		rs11561791	0.459265	0	0	1	0	0	intronic	intronic	ncRNA_exonic	URGCP	URGCP	ENSG00000237972	Na	Na	Na	Na	Na	Na	Het;G>A	807;46|37	Hom;G>A	2004;0|72
N	N	-	7	43980540	43980540	G	T	snp	ncRNA_exonic	 	 	 	 	POLR2J4																		rs2595644	0.51877	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	POLR2J4	UBE2D4	ENSG00000214783	Na	Na	Na	Na	Na	Na	Het;G>T	989;55|48	Hom;G>T	2339;0|86
N	N	-	7	43981034	43981034	A	C	snp	ncRNA_exonic	 	 	 	 	POLR2J4																		rs2527811	0.519169	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	POLR2J4	UBE2D4	ENSG00000214783	Na	Na	Na	Na	Na	Na	Het;A>C	1551;90|66	Hom;A>C	3253;0|108
N	N	-	7	43982139	43982139	C	T	snp	ncRNA_exonic	 	 	 	 	POLR2J4																		rs929380	0.455072	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	POLR2J4	UBE2D4	ENSG00000214783	Na	Na	Na	Na	Na	Na	Het;C>T	1546;75|70	Hom;C>T	3874;0|140
N	N	-	7	43982482	43982482	A	C	snp	ncRNA_exonic	 	 	 	 	POLR2J4																		rs2074727	0.454872	0.3763	0.3993	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	POLR2J4	UBE2D4	ENSG00000214783	Na	Na	Na	Na	Na	Na	Het;A>C	1767;77|84	Hom;A>C	4040;0|145
N	N	-	7	43985603	43985603	G	A	snp	ncRNA_intronic	 	 	 	 	POLR2J4																		rs7785378	0.407348	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	POLR2J4	UBE2D4	ENSG00000214783	Na	Na	Na	Na	Na	Na	Het;G>A	96;2|4	Hom;G>A	126;0|5
N	N	-	7	44282928	44282928	G	A	snp	synonymous SNV	C522T	F174F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CAMK2B	Camk2b	ENSG00000058404	calcium/calmodulin dependent protein kinase II beta	chr7:44256749-44374176	The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	Weight Gain; Metabolic Syndrome X; Autism; Tobacco Use Disorder	Mice homozygous for a null allele exhibit reversal of plasticity direction at parallel fiber-Purkinje cell synapses. Mice homozygous for a different null allele show motor impairments, including ataxia, altered body mass composition, a reduction in anxiety-related behavior, and cognitive deficits.	Ion transport by P-type ATPases	GO:0000165;MAPK cascade;TAS|GO:0006468;protein phosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0014733;regulation of skeletal muscle adaptation;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030154;cell differentiation;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048169;regulation of long-term neuronal synaptic plasticity;TAS|GO:0051823;regulation of synapse structural plasticity;TAS|GO:0051924;regulation of calcium ion transport;TAS|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060998;regulation of dendritic spine development;TAS|GO:0061003;positive regulation of dendritic spine morphogenesis;ISS|GO:0090129;positive regulation of synapse maturation;ISS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0043005;neuron projection;IBA	GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CAMK2B	https://www.uniprot.org/uniprot/Q13554	https://hpo.jax.org/app/browse/search?q=CAMK2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607707	http://www.informatics.jax.org/searchtool/Search.do?query=CAMK2B&submit=Quick%0D%1034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMK2B	rs17172630	0.0555112	0.0592	0.0723	1	0	0	exonic	exonic	exonic	CAMK2B	CAMK2B	ENSG00000058404	synonymous SNV	synonymous SNV	unknown	CAMK2B:NM_172082:exon8:c.C522T:p.F174F,CAMK2B:NM_172078:exon8:c.C522T:p.F174F,CAMK2B:NM_172080:exon8:c.C522T:p.F174F,CAMK2B:NM_172081:exon8:c.C522T:p.F174F,CAMK2B:NM_001293170:exon8:c.C522T:p.F174F,CAMK2B:NM_172084:exon8:c.C522T:p.F174F,CAMK2B:NM_172079:exon8:c.C522T:p.F174F,CAMK2B:NM_001220:exon8:c.C522T:p.F174F,CAMK2B:NM_172083:exon8:c.C522T:p.F174F,	CAMK2B:uc003tkq.2:exon8:c.C522T:p.F174F,CAMK2B:uc003tkw.2:exon8:c.C522T:p.F174F,CAMK2B:uc003tkt.2:exon8:c.C522T:p.F174F,CAMK2B:uc003tkv.2:exon8:c.C522T:p.F174F,CAMK2B:uc003tkp.2:exon8:c.C522T:p.F174F,CAMK2B:uc003tks.2:exon8:c.C522T:p.F174F,CAMK2B:uc010kyc.2:exon8:c.C522T:p.F174F,CAMK2B:uc003tkr.2:exon8:c.C522T:p.F174F,CAMK2B:uc003tku.2:exon8:c.C522T:p.F174F,	UNKNOWN	Het;G>A	1630;50|74	Hom;G>A	3340;0|122
N	N	-	7	44292191	44292191	G	A	snp	intronic	 	 	 	 	CAMK2B	Camk2b	ENSG00000058404	calcium/calmodulin dependent protein kinase II beta	chr7:44256749-44374176	The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	Weight Gain; Metabolic Syndrome X; Autism; Tobacco Use Disorder	Mice homozygous for a null allele exhibit reversal of plasticity direction at parallel fiber-Purkinje cell synapses. Mice homozygous for a different null allele show motor impairments, including ataxia, altered body mass composition, a reduction in anxiety-related behavior, and cognitive deficits.	Ion transport by P-type ATPases	GO:0000165;MAPK cascade;TAS|GO:0006468;protein phosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0014733;regulation of skeletal muscle adaptation;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0030154;cell differentiation;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048169;regulation of long-term neuronal synaptic plasticity;TAS|GO:0051823;regulation of synapse structural plasticity;TAS|GO:0051924;regulation of calcium ion transport;TAS|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060998;regulation of dendritic spine development;TAS|GO:0061003;positive regulation of dendritic spine morphogenesis;ISS|GO:0090129;positive regulation of synapse maturation;ISS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0043005;neuron projection;IBA	GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CAMK2B	https://www.uniprot.org/uniprot/Q13554	https://hpo.jax.org/app/browse/search?q=CAMK2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607707	http://www.informatics.jax.org/searchtool/Search.do?query=CAMK2B&submit=Quick%0D%1034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMK2B	rs56898552	0.0607029	0	0	1	0	0	intronic	intronic	intronic	CAMK2B	CAMK2B	ENSG00000058404	Na	Na	Na	Na	Na	Na	Het;G>A	45;1|3	Hom;G>A	206;0|9
N	N	-	7	44880684	44880685	CA	C	indel	intronic	 	 	 	 	H2AFV	H2afv	ENSG00000105968	H2A histone family member V	chr7:44866390-44887682	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]		Mice homozygous for a conditional allele of H2az1 and H2az2 activated in intestinal cells exhibit reduced growth and crypt dysfunction.	Meiotic recombination	GO:0006342;chromatin silencing;IBA|GO:0008150;biological_process;ND	GO:0000786;nucleosome;IEA|GO:0000790;nuclear chromatin;IBA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/H2AFV	https://www.uniprot.org/uniprot/Q71UI9			http://www.informatics.jax.org/searchtool/Search.do?query=H2AFV&submit=Quick%0D%3422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=H2AFV	rs138616116	0.221046	0	0	1	0	0	intronic	intronic	intronic	H2AFV	H2AFV	ENSG00000105968	Na	Na	Na	Na	Na	Na	Het;-A	679;21|23	Hom;-A	1007;0|28
N	N	-	7	44963866	44963866	G	T	snp	intergenic	 	 	 	 	AC004854.1																		rs2057842	0.7502	0	0	1	0	0	intergenic	intergenic	intergenic	PURB(dist=38882),MYO1G(dist=38394)	PURB(dist=38906),MYO1G(dist=38394)	ENSG00000230160(dist=3938),ENSG00000260997(dist=34732)	Na	Na	Na	Na	Na	Na	Het;G>T	64;2|3	Hom;G>T	151;0|5
N	N	-	7	45002858	45002858	G	A	snp	intronic	 	 	 	 	MYO1G	Myo1g	ENSG00000136286	myosin IG	chr7:45002261-45018697	MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]	Graft vs Host Disease	Mice homozygous for a knock-out allele exhibit reduced B cell spreading, migration and homing and impaired T cell motility.		GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002456;T cell mediated immunity;IEA|GO:0006887;exocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0031589;cell-substrate adhesion;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;IEA|GO:0071976;cell gliding;IEA|GO:0072678;T cell migration;IEA	GO:0001891;phagocytic cup;IEA|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IEA|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031256;leading edge membrane;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0008289;lipid binding;IEA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO1G	https://www.uniprot.org/uniprot/B0I1T2		https://www.ncbi.nlm.nih.gov/omim/?term=600642	http://www.informatics.jax.org/searchtool/Search.do?query=MYO1G&submit=Quick%0D%7327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1G	rs116865902	0.043131	0	0	1	0	0	intronic	intronic	intronic	MYO1G	MYO1G	ENSG00000136286	Na	Na	Na	Na	Na	Na	Het;G>A	51;1|4	Hom;G>A	128;0|6
N	N	-	7	46010714	46010714	T	C	snp	ncRNA_intronic	 	 	 	 	AC073115.2																		rs788711	0.75619	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	IGFBP3(dist=49843),TNS3(dist=1304038)	IGFBP3(dist=49843),AK125311(dist=716763)	ENSG00000237471	Na	Na	Na	Na	Na	Na	Het;T>C	331;18|17	Hom;T>C	1063;0|40
N	N	-	7	47467787	47467787	A	G	snp	intronic	 	 	 	 	TNS3	Tns3	ENSG00000136205	tensin 3	chr7:47314752-47622156		Tobacco Use Disorder	Mice homozygous for a null allele exhibit one third postnatal lethality, reduced body weight, growth retardation, smaller digestive tracts with defects in villi and enterocyte differentiation, abnormal lung morphology, and thinner bones with decreased chondrocyte proliferation.	MET interacts with TNS proteins	GO:0008284;positive regulation of cell proliferation;IEA|GO:0016477;cell migration;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0048286;lung alveolus development;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0030054;cell junction;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TNS3	https://www.uniprot.org/uniprot/Q68CZ2		https://www.ncbi.nlm.nih.gov/omim/?term=606825	http://www.informatics.jax.org/searchtool/Search.do?query=TNS3&submit=Quick%0D%7307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNS3	rs1704969	0.365016	0	0	1	0	0	intronic	intronic	intronic	TNS3	TNS3	ENSG00000136205	Na	Na	Na	Na	Na	Na	Het;A>G	143;5|6	Hom;A>G	130;0|4
N	N	-	7	47878993	47878993	C	T	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs6960394	0.166933	0.1878	0.2095	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;C>T	444;22|22	Hom;C>T	1455;0|55
N	N	-	7	47906367	47906367	C	T	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs6972918	0.299521	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;C>T	94;2|4	Hom;C>T	148;0|5
N	N	-	7	47913459	47913459	T	C	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs62447062	0.346046	0.3771	0.3241	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;T>C	651;19|25	Hom;T>C	1185;0|37
N	N	-	7	47913580	47913580	G	A	snp	synonymous SNV	C3813T	G1271G	aliphatic,neutral	aliphatic,neutral	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs73105162	0.304313	0.3266	0.2990	1	0	0	exonic	exonic	exonic	PKD1L1	PKD1L1	ENSG00000158683	synonymous SNV	synonymous SNV	unknown	PKD1L1:NM_138295:exon24:c.C3813T:p.G1271G,	PKD1L1:uc003tny.2:exon24:c.C3813T:p.G1271G,	UNKNOWN	Het;G>A	1274;61|64	Hom;G>A	4630;0|104
N	N	-	7	47913615	47913615	G	A	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs17131867	0.304313	0.3288	0.3043	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;G>A	1085;61|53	Hom;G>A	2713;1|101
N	N	-	7	47913737	47913737	A	G	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs73105163	0.346046	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;A>G	220;12|11	Hom;A>G	617;1|21
N	N	-	7	47915651	47915651	G	C	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs4724654	0.345447	0.3755	0.3073	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;G>C	205;14|8	Hom;G>C	1218;0|37
N	N	-	7	47915677	47915677	A	G	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs4724655	0.345447	0.3755	0.3100	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;A>G	323;20|15	Hom;A>G	1652;0|58
N	N	-	7	47915890	47915890	C	T	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs4724656	0.345447	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;C>T	206;12|11	Hom;C>T	511;0|20
N	N	-	7	47916995	47916995	T	C	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs2348662	0.345447	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;T>C	342;10|13	Hom;T>C	983;1|32
N	N	-	7	47920136	47920163	TCCCAAAGTGCTGGGATTACAAGCGTGA	T	indel	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs113663040	0.343251	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;-CCCAAAGTGCTGGGATTACAAGCGTGA	41;2|2	Hom;-CCCAAAGTGCTGGGATTACAAGCGTGA	188;0|5
N	N	-	7	47920169	47920169	T	C	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs62447078	0.341254	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;T>C	50;2|2	Hom;T>C	197;0|5
N	N	-	7	47920171	47920171	T	C	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs62447079	0.341254	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;T>C	50;2|2	Hom;T>C	234;0|5
N	N	-	7	47920178	47920178	C	A	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs62447080	0.341853	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;C>A	50;2|2	Hom;C>A	235;0|6
N	N	-	7	47920225	47920225	G	C	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs17131893	0.34365	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;G>C	138;7|5	Hom;G>C	456;0|13
N	N	-	7	47920298	47920298	G	C	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs17131896	0.34345	0.3751	0.3113	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;G>C	280;36|16	Hom;G>C	1491;0|56
N	N	-	7	47920345	47920345	G	A	snp	synonymous SNV	C3501T	Y1167Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs62447081	0.340056	0.3735	0.3084	1	0	0	exonic	exonic	exonic	PKD1L1	PKD1L1	ENSG00000158683	synonymous SNV	synonymous SNV	unknown	PKD1L1:NM_138295:exon21:c.C3501T:p.Y1167Y,	PKD1L1:uc003tny.2:exon21:c.C3501T:p.Y1167Y,	UNKNOWN	Het;G>A	547;51|29	Hom;G>A	2312;0|90
N	N	-	7	47920450	47920450	A	G	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs17131899	0.34385	0.3717	0.3095	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;A>G	441;11|21	Hom;A>G	891;0|33
N	N	-	7	47920482	47920482	A	G	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs78574665	0.34345	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;A>G	288;5|8	Hom;A>G	642;0|15
N	N	-	7	47920483	47920483	G	T	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs79012260	0.335663	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;G>T	288;5|8	Hom;G>T	642;0|15
N	N	-	7	47920499	47920499	A	G	snp	intronic	 	 	 	 	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs62447082	0.34385	0	0	1	0	0	intronic	intronic	intronic	PKD1L1	PKD1L1	ENSG00000136273,ENSG00000158683	Na	Na	Na	Na	Na	Na	Het;A>G	108;4|4	Hom;A>G	309;0|10
N	N	-	7	48318811	48318811	C	T	snp	nonsynonymous SNV	C8020T	R2674W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	ABCA13	Abca13	ENSG00000179869	ATP binding cassette subfamily A member 13	chr7:48211055-48687092	In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]	schizophrenia | depression | bipolar disorder; Body Mass Index; Respiratory Function Tests; Tobacco Use Disorder; Body Height; Erythrocyte Count; Iron; Life Expectancy; Metabolism; Autism	 	Neutrophil degranulation	GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA13			https://www.ncbi.nlm.nih.gov/omim/?term=607807	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA13&submit=Quick%0D%14395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA13	rs2222648	0.852236	0.7742	0.8045	0.08	1	13	exonic	exonic	exonic	ABCA13	ABCA13	ENSG00000179869	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCA13:NM_152701:exon18:c.C8020T:p.R2674W,	ABCA13:uc003toq.2:exon18:c.C8020T:p.R2674W,ABCA13:uc031sxh.1:exon1:c.C1063T:p.R355W,ABCA13:uc031sxg.1:exon1:c.C1063T:p.R355W,ABCA13:uc010kys.2:exon1:c.C1063T:p.R355W,	UNKNOWN	Het;C>T	1651;117|81	Hom;C>T	4686;0|178
N	N	-	7	49166945	49166946	CA	C	indel	intergenic	 	 	 	 	CDC14C																		rs397889471	0.914736	0	0	1	0	0	intergenic	intergenic	intergenic	CDC14C(dist=199896),VWC2(dist=646311)	CDC14C(dist=199896),VWC2(dist=646311)	ENSG00000218305(dist=201333),ENSG00000234686(dist=102787)	Na	Na	Na	Na	Na	Na	Het;-A	45;2|7	Hom;-A	294;2|17
N	N	-	7	4959789	4959789	G	A	snp	intronic	 	 	 	 	MMD2	Mmd2	ENSG00000136297	monocyte to macrophage differentiation associated 2	chr7:4945620-4998844	This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]	Crohn Disease|Crohn's disease; Celiac Disease|; Tobacco Use Disorder	 		GO:0006468;protein phosphorylation;IEA|GO:0032880;regulation of protein localization;IDA|GO:0045666;positive regulation of neuron differentiation;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0046579;positive regulation of Ras protein signal transduction;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004672;protein kinase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMD2	https://www.uniprot.org/uniprot/Q8IY49		https://www.ncbi.nlm.nih.gov/omim/?term=614581	http://www.informatics.jax.org/searchtool/Search.do?query=MMD2&submit=Quick%0D%7329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMD2	rs932060	0.441494	0.4509	0.4354	1	0	0	intronic	intronic	intronic	MMD2	MMD2	ENSG00000136297	Na	Na	Na	Na	Na	Na	Het;G>A	1021;27|27	Hom;G>A	2465;0|55
N	N	-	7	4959807	4959807	G	A	snp	synonymous SNV	C285T	H95H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	MMD2	Mmd2	ENSG00000136297	monocyte to macrophage differentiation associated 2	chr7:4945620-4998844	This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]	Crohn Disease|Crohn's disease; Celiac Disease|; Tobacco Use Disorder	 		GO:0006468;protein phosphorylation;IEA|GO:0032880;regulation of protein localization;IDA|GO:0045666;positive regulation of neuron differentiation;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0046579;positive regulation of Ras protein signal transduction;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0004672;protein kinase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MMD2	https://www.uniprot.org/uniprot/Q8IY49		https://www.ncbi.nlm.nih.gov/omim/?term=614581	http://www.informatics.jax.org/searchtool/Search.do?query=MMD2&submit=Quick%0D%7329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMD2	rs932061	0.441693	0.4576	0.4594	1	0	0	exonic	exonic	exonic	MMD2	MMD2	ENSG00000136297	synonymous SNV	synonymous SNV	unknown	MMD2:NM_001270375:exon3:c.C285T:p.H95H,MMD2:NM_001100600:exon3:c.C285T:p.H95H,MMD2:NM_198403:exon3:c.C285T:p.H95H,	MMD2:uc010ksq.3:exon3:c.C285T:p.H95H,MMD2:uc003sno.4:exon3:c.C285T:p.H95H,MMD2:uc003snn.4:exon3:c.C285T:p.H95H,	UNKNOWN	Het;G>A	1142;38|33	Hom;G>A	3191;0|85
N	N	-	7	5013688	5013688	A	G	snp	ncRNA_exonic	 	 	 	 	RNF216P1																		rs6978215	0.549521	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	RNF216P1	RNF216P1	ENSG00000196204	Na	Na	Na	Na	Na	Na	Het;A>G	225;24|11	Hom;A>G	1116;0|40
N	N	-	7	50144059	50144059	T	TTA	indel	intronic	 	 	 	 	C7orf72	4930415F15Rik	ENSG00000164500	chromosome 7 open reading frame 72	chr7:50135632-50199426		C-Reactive Protein; Hippocampus; Crohn Disease; Alzheimer Disease; Lupus Erythematosus, Systemic	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C7orf72				http://www.informatics.jax.org/searchtool/Search.do?query=C7orf72&submit=Quick%0D%11321ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C7orf72	rs3034461	0.791334	0.7585	0	1	0	0	intronic	intronic	intronic	C7orf72	C7orf72	ENSG00000042813,ENSG00000164500	Na	Na	Na	Na	Na	Na	Het;+TA	60;3|3	Hom;+TA	155;0|5
N	N	-	7	50571779	50571779	G	A	snp	intronic	 	 	 	 	DDC	Ddc	ENSG00000132437	dopa decarboxylase	chr7:50526134-50633154	The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]	Type 2 Diabetes| edema | rosiglitazone; Acute lymphoblastic leukemia (childhood); Schizophrenia; ADHD; patent ductus arteriosus; bipolar affective disorder; unipolar affective disorder; alcohol consumption; Tobacco Use Disorder; Autism; normal variation; Hypercholesterolemia|LDLC levels; Bulimia; migraine ; Malaria; personality; schizophrenia; ADHD | attention-deficit hyperactivity disorder; Brain; several psychiatric disorders; bipolar disorder; nicotine; malaria; bipolar affective disorder.; nicotine dependence smoking behavior; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Weight Gain	Mice homozygous for one knock-out allele exhibit preweaning phenotype. Mice homozygous for a different knock-in allele exhibit partial prenatal lethality, decreased body size, postnatal growth retardation, hypoactivity, increased anxiety, tremors, decreased heart rate and decreased dopamine levels.	Serotonin and melatonin biosynthesis	GO:0006520;cellular amino acid metabolic process;IEA|GO:0007623;circadian rhythm;IEA|GO:0009636;response to toxic substance;IEA|GO:0010259;multicellular organism aging;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0033076;isoquinoline alkaloid metabolic process;IEA|GO:0035690;cellular response to drug;IEA|GO:0042416;dopamine biosynthetic process;IEA|GO:0042423;catecholamine biosynthetic process;TAS|GO:0042427;serotonin biosynthetic process;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0046684;response to pyrethroid;IEA|GO:0052314;phytoalexin metabolic process;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004058;aromatic-L-amino-acid decarboxylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016597;amino acid binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0036468;L-dopa decarboxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDC	https://www.uniprot.org/uniprot/P20711	https://hpo.jax.org/app/browse/search?q=DDC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107930	http://www.informatics.jax.org/searchtool/Search.do?query=DDC&submit=Quick%0D%6673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDC	rs11575375	0.324481	0.3641	0.3334	1	0	0	intronic	intronic	intronic	DDC	DDC	ENSG00000132437	Na	Na	Na	Na	Na	Na	Het;G>A	1188;55|57	Hom;G>A	2528;2|102
N	N	-	7	50694457	50694457	A	G	snp	intronic	 	 	 	 	GRB10	Grb10	ENSG00000106070	growth factor receptor bound protein 10	chr7:50657760-50861159	The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]	intrauterine growth; Scleroderma, Systemic; null	Maternal transmission of a mutant allele results in both fetal and placental overgrowth. Disproportionate overgrowth of the liver is observed. Paternal transmission of an allele lacking the differentially methylated region results in growth retardation.	RET signaling	GO:0007165;signal transduction;IEA|GO:0007411;axon guidance;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0042326;negative regulation of phosphorylation;IEA|GO:0046325;negative regulation of glucose import;ISS|GO:0046627;negative regulation of insulin receptor signaling pathway;ISS|GO:0048009;insulin-like growth factor receptor signaling pathway;IEA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005158;insulin receptor binding;ISS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRB10	https://www.uniprot.org/uniprot/Q13322		https://www.ncbi.nlm.nih.gov/omim/?term=601523	http://www.informatics.jax.org/searchtool/Search.do?query=GRB10&submit=Quick%0D%3447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB10	rs1468450	0.65615	0	0	1	0	0	intronic	intronic	intronic	GRB10	GRB10	ENSG00000106070	Na	Na	Na	Na	Na	Na	Het;A>G	292;10|14	Hom;A>G	461;0|17
N	N	-	7	51098567	51098570	GTCT	G	indel	nonframeshift substitution	801_804C	 	 	 	COBL	Cobl	ENSG00000106078	cordon-bleu WH2 repeat protein	chr7:51083909-51384515		Echocardiography; Potassium; Cholesterol, LDL; Cell Adhesion Molecules; Emphysema; Cholesterol, HDL; Hypertension; Neuroblastoma; Electrocardiography; Glucose; Autism; Alzheimer Disease; Heart Failure; Hippocampus; Celiac Disease|; Tobacco Use Disorder; type 1 diabetes; C-Reactive Protein	Animals homozygous for this mutation do not display a phenotype.  However, the allele exacerbates the neural tube defects seen in the loop tail mouse.		GO:0000578;embryonic axis specification;ISS|GO:0001757;somite specification;ISS|GO:0001843;neural tube closure;ISS|GO:0001889;liver development;ISS|GO:0030041;actin filament polymerization;IBA|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0048565;digestive tract development;ISS|GO:0048669;collateral sprouting in absence of injury;ISS|GO:0051639;actin filament network formation;IBA|GO:1900006;positive regulation of dendrite development;ISS|GO:1900029;positive regulation of ruffle assembly;IEA	GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;ISS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0044294;dendritic growth cone;ISS|GO:0044295;axonal growth cone;ISS|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/COBL	https://www.uniprot.org/uniprot/O75128		https://www.ncbi.nlm.nih.gov/omim/?term=610317	http://www.informatics.jax.org/searchtool/Search.do?query=COBL&submit=Quick%0D%3449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COBL	rs142060269	0	0.3417	0.3732	1	0	0	exonic	exonic	exonic	COBL	COBL	ENSG00000106078	nonframeshift substitution	nonframeshift substitution	unknown	COBL:NM_015198:exon9:c.1443_1446C,COBL:NM_001287436:exon10:c.1614_1617C,	COBL:uc003tpp.4:exon8:c.801_804C,COBL:uc003tps.3:exon10:c.1614_1617C,COBL:uc011kcl.2:exon9:c.1443_1446C,COBL:uc003tpr.4:exon9:c.1443_1446C,COBL:uc003tpq.4:exon8:c.1266_1269C,COBL:uc003tpo.4:exon1:c.69_72C,	UNKNOWN	Het;-TCT	706;46|21	Hom;-TCT	2620;0|61
N	N	-	7	51450625	51450625	G	C	snp	ncRNA_exonic	 	 	 	 	CICP17																		rs62447032	0.20028	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	COBL(dist=66110),POM121L12(dist=1652724)	COBL(dist=66110),DQ584971(dist=7701)	ENSG00000227233	Na	Na	Na	Na	Na	Na	Het;G>C	399;46|26	Hom;G>C	1777;1|66
N	N	-	7	51451376	51451376	A	G	snp	ncRNA_exonic	 	 	 	 	CICP17																		rs13244297	0.669928	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	COBL(dist=66861),POM121L12(dist=1651973)	COBL(dist=66861),DQ584971(dist=6950)	ENSG00000227233	Na	Na	Na	Na	Na	Na	Het;A>G	682;24|30	Hom;A>G	1274;0|45
N	N	-	7	51451961	51451977	GCCCAAAGCCCAACACC	G	indel	ncRNA_exonic	 	 	 	 	CICP17																		rs374047990	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	COBL(dist=67446),POM121L12(dist=1651372)	COBL(dist=67446),DQ584971(dist=6349)	ENSG00000227233	Na	Na	Na	Na	Na	Na	Het;-CCCAAAGCCCAACACC	99;22|5	Hom;-CCCAAAGCCCAACACC	188;0|5
N	N	-	7	51452002	51452002	A	G	snp	ncRNA_exonic	 	 	 	 	CICP17																		rs13247676	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	COBL(dist=67487),POM121L12(dist=1651347)	COBL(dist=67487),DQ584971(dist=6324)	ENSG00000227233	Na	Na	Na	Na	Na	Na	Het;A>G	219;24|11	Hom;A>G	473;0|16
N	N	-	7	51452840	51452840	G	C	snp	ncRNA_exonic	 	 	 	 	ENSG00000251564																		rs2577173	0.684704	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	COBL(dist=68325),POM121L12(dist=1650509)	COBL(dist=68325),DQ584971(dist=5486)	ENSG00000251564	Na	Na	Na	Na	Na	Na	Het;G>C	583;23|26	Hom;G>C	1167;0|44
N	N	-	7	51454171	51454171	T	C	snp	ncRNA_exonic	 	 	 	 	AC012441.2																		rs620101	0.667532	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	COBL(dist=69656),POM121L12(dist=1649178)	COBL(dist=69656),DQ584971(dist=4155)	ENSG00000228897	Na	Na	Na	Na	Na	Na	Het;T>C	840;151|46	Hom;T>C	2715;0|90
N	N	-	7	51455940	51455940	T	C	snp	downstream	 	 	 	 	AC012441.1																		rs6946225	0.656749	0	0	1	0	0	intergenic	intergenic	downstream	COBL(dist=71425),POM121L12(dist=1647409)	COBL(dist=71425),DQ584971(dist=2386)	ENSG00000227080	Na	Na	Na	Na	Na	Na	Het;T>C	1027;60|49	Hom;T>C	2358;3|82
N	N	-	7	51460408	51460408	C	A	snp	upstream	 	 	 	 	DQ599872																		rs9770761	0.664936	0	0	1	0	0	intergenic	upstream	intergenic	COBL(dist=75893),POM121L12(dist=1642941)	DQ599872,DQ600587	ENSG00000227080(dist=3597),ENSG00000229478(dist=207574)	Na	Na	Na	Na	Na	Na	Het;C>A	1647;108|79	Hom;C>A	4356;0|154
N	N	-	7	5269424	5269424	A	C	snp	intronic	 	 	 	 	WIPI2	Wipi2	ENSG00000157954	WD repeat domain, phosphoinositide interacting 2	chr7:5229819-5273457	WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]	Myocardial Infarction	 	Macroautophagy	GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0016236;macroautophagy;TAS	GO:0000407;pre-autophagosomal structure;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0034045;pre-autophagosomal structure membrane;IDA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WIPI2			https://www.ncbi.nlm.nih.gov/omim/?term=609225	http://www.informatics.jax.org/searchtool/Search.do?query=WIPI2&submit=Quick%0D%10150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WIPI2	rs7785898	0.91873	0	0	1	0	0	intronic	intronic	intronic	WIPI2	WIPI2	ENSG00000157954	Na	Na	Na	Na	Na	Na	Het;A>C	580;15|25	Hom;A>C	1021;0|36
N	N	-	7	52884300	52884307	TAAGGACC	T	indel	intergenic	 	 	 	 	ENSG00000238506																		rs111720992	0.298522	0	0	1	0	0	intergenic	intergenic	intergenic	COBL(dist=1499785),POM121L12(dist=219042)	DQ599872(dist=1423924),POM121L12(dist=219042)	ENSG00000238506(dist=492715),ENSG00000234304(dist=75223)	Na	Na	Na	Na	Na	Na	Het;-AAGGACC	3245;90|86	Hom;-AAGGACC	7723;0|173
N	N	-	7	52884485	52884485	G	C	snp	intergenic	 	 	 	 	ENSG00000238506																		rs2965548	0.298522	0	0	1	0	0	intergenic	intergenic	intergenic	COBL(dist=1499970),POM121L12(dist=218864)	DQ599872(dist=1424109),POM121L12(dist=218864)	ENSG00000238506(dist=492900),ENSG00000234304(dist=75045)	Na	Na	Na	Na	Na	Na	Het;G>C	595;24|16	Hom;G>C	1195;0|28
N	N	-	7	5372406	5372406	G	T	snp	synonymous SNV	C5994A	R1998R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	TNRC18	Tnrc18	ENSG00000182095	trinucleotide repeat containing 18	chr7:5346421-5465045		Albumins; Myocardial Infarction	 		GO:0006342;chromatin silencing;IBA|GO:0031507;heterochromatin assembly;IBA	GO:0000785;chromatin;IBA|GO:0005634;nucleus;IDA|GO:0005677;chromatin silencing complex;IBA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNRC18				http://www.informatics.jax.org/searchtool/Search.do?query=TNRC18&submit=Quick%0D%14716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNRC18	rs13238738	0.528355	0.6582	0.5213	1	0	0	exonic	exonic	exonic	TNRC18	TNRC18	ENSG00000182095	synonymous SNV	synonymous SNV	unknown	TNRC18:NM_001080495:exon19:c.C5994A:p.R1998R,	TNRC18:uc003soi.4:exon19:c.C5994A:p.R1998R,	UNKNOWN	Het;G>T	647;44|35	Hom;G>T	1654;0|62
N	N	-	7	538277	538277	G	C	snp	intronic	 	 	 	 	PDGFA	Pdgfa	ENSG00000197461	platelet derived growth factor subunit A	chr7:536895-559933	This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; asthma; Asthma	Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001775;cell activation;TAS|GO:0001942;hair follicle development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0002576;platelet degranulation;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009611;response to wounding;IDA|GO:0009887;animal organ morphogenesis;ISS|GO:0010512;negative regulation of phosphatidylinositol biosynthetic process;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030031;cell projection assembly;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032956;regulation of actin cytoskeleton organization;TAS|GO:0035793;positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway;IDA|GO:0042060;wound healing;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043588;skin development;ISS|GO:0045740;positive regulation of DNA replication;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048286;lung alveolus development;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050919;negative chemotaxis;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060683;regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1990401;embryonic lung development;ISS|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;TAS	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005902;microvillus;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS	GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005161;platelet-derived growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0008083;growth factor activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IPI|GO:0048407;platelet-derived growth factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDGFA			https://www.ncbi.nlm.nih.gov/omim/?term=173430	http://www.informatics.jax.org/searchtool/Search.do?query=PDGFA&submit=Quick%0D%16634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFA	rs34223855	0.307308	0.3195	0	1	0	0	intronic	intronic	intronic	PDGFA	PDGFA	ENSG00000197461	Na	Na	Na	Na	Na	Na	Het;G>C	1368;37|38	Hom;G>C	3690;0|87
N	N	-	7	538284	538284	T	C	snp	intronic	 	 	 	 	PDGFA	Pdgfa	ENSG00000197461	platelet derived growth factor subunit A	chr7:536895-559933	This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; asthma; Asthma	Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001775;cell activation;TAS|GO:0001942;hair follicle development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0002576;platelet degranulation;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009611;response to wounding;IDA|GO:0009887;animal organ morphogenesis;ISS|GO:0010512;negative regulation of phosphatidylinositol biosynthetic process;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030031;cell projection assembly;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032956;regulation of actin cytoskeleton organization;TAS|GO:0035793;positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway;IDA|GO:0042060;wound healing;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043588;skin development;ISS|GO:0045740;positive regulation of DNA replication;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048286;lung alveolus development;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050919;negative chemotaxis;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060683;regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1990401;embryonic lung development;ISS|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;TAS	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005902;microvillus;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS	GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005161;platelet-derived growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0008083;growth factor activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IPI|GO:0048407;platelet-derived growth factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDGFA			https://www.ncbi.nlm.nih.gov/omim/?term=173430	http://www.informatics.jax.org/searchtool/Search.do?query=PDGFA&submit=Quick%0D%16634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFA	rs35782510	0.304712	0.3173	0	1	0	0	intronic	intronic	intronic	PDGFA	PDGFA	ENSG00000197461	Na	Na	Na	Na	Na	Na	Het;T>C	1258;30|32	Hom;T>C	3491;0|77
N	N	-	7	538348	538348	A	T	snp	intronic	 	 	 	 	PDGFA	Pdgfa	ENSG00000197461	platelet derived growth factor subunit A	chr7:536895-559933	This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	atherosclerosis; asthma; Asthma	Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001775;cell activation;TAS|GO:0001942;hair follicle development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0002576;platelet degranulation;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009611;response to wounding;IDA|GO:0009887;animal organ morphogenesis;ISS|GO:0010512;negative regulation of phosphatidylinositol biosynthetic process;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030031;cell projection assembly;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032956;regulation of actin cytoskeleton organization;TAS|GO:0035793;positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway;IDA|GO:0042060;wound healing;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043588;skin development;ISS|GO:0045740;positive regulation of DNA replication;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048286;lung alveolus development;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050919;negative chemotaxis;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060683;regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1990401;embryonic lung development;ISS|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;TAS	GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005902;microvillus;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS	GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005161;platelet-derived growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0008083;growth factor activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IPI|GO:0048407;platelet-derived growth factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDGFA			https://www.ncbi.nlm.nih.gov/omim/?term=173430	http://www.informatics.jax.org/searchtool/Search.do?query=PDGFA&submit=Quick%0D%16634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFA	rs12720025	0.304712	0	0	1	0	0	intronic	intronic	intronic	PDGFA	PDGFA	ENSG00000197461	Na	Na	Na	Na	Na	Na	Het;A>T	295;5|11	Hom;A>T	419;0|14
N	N	-	7	54415116	54415116	C	T	snp	ncRNA_intronic	 	 	 	 	LINC01445																		rs11238306	0.661342	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01445	HPVC1(dist=145002),VSTM2A(dist=194903)	ENSG00000231427	Na	Na	Na	Na	Na	Na	Het;C>T	584;6|16	Hom;C>T	938;0|23
N	N	-	7	54415119	54415119	C	G	snp	ncRNA_intronic	 	 	 	 	LINC01445																		rs11238307	0.661342	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LINC01445	HPVC1(dist=145005),VSTM2A(dist=194900)	ENSG00000231427	Na	Na	Na	Na	Na	Na	Het;C>G	562;6|15	Hom;C>G	864;0|20
N	N	-	7	54416706	54416706	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01445																		rs1357886	0.661342	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01445	HPVC1(dist=146592),VSTM2A(dist=193313)	ENSG00000231427	Na	Na	Na	Na	Na	Na	Het;C>T	503;19|14	Hom;C>T	946;0|23
N	N	-	7	54416707	54416707	C	G	snp	ncRNA_exonic	 	 	 	 	LINC01445																		rs1357885	0.661342	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01445	HPVC1(dist=146593),VSTM2A(dist=193312)	ENSG00000231427	Na	Na	Na	Na	Na	Na	Het;C>G	503;19|14	Hom;C>G	946;0|20
N	N	-	7	54416829	54416829	C	T	snp	ncRNA_exonic	 	 	 	 	LINC01445																		rs1357884	0.660543	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LINC01445	HPVC1(dist=146715),VSTM2A(dist=193190)	ENSG00000231427	Na	Na	Na	Na	Na	Na	Het;C>T	80;18|5	Hom;C>T	568;0|18
N	N	-	7	54467507	54467507	G	A	snp	intergenic	 	 	 	 	ENSG00000238354																		rs10234994	0.609026	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01445(dist=49969),VSTM2A(dist=142511)	HPVC1(dist=197393),VSTM2A(dist=142512)	ENSG00000238354(dist=39819),ENSG00000213673(dist=19630)	Na	Na	Na	Na	Na	Na	Het;G>A	164;4|7	Hom;G>A	373;0|14
N	N	-	7	54488086	54488086	A	G	snp	downstream	 	 	 	 	SLC25A5P3																		rs62449384	0.406749	0	0	1	0	0	intergenic	intergenic	downstream	LINC01445(dist=70548),VSTM2A(dist=121932)	HPVC1(dist=217972),VSTM2A(dist=121933)	ENSG00000213673	Na	Na	Na	Na	Na	Na	Het;A>G	155;7|8	Hom;A>G	447;0|16
N	N	-	7	5521219	5521219	T	C	snp	UTR3	*187A>G	 	 	 	FBXL18	Fbxl18	ENSG00000155034	F-box and leucine rich repeat protein 18	chr7:5470966-5553429	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL18	https://www.uniprot.org/uniprot/Q96ME1		https://www.ncbi.nlm.nih.gov/omim/?term=609084	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL18&submit=Quick%0D%9833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL18	rs10046576	0.946286	0	0	1	0	0	UTR3	UTR3	UTR3	FBXL18(NM_024963:c.*187A>G)	FBXL18(uc003son.4:c.*187A>G)	ENSG00000155034(ENST00000382368:c.*187A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	53;2|3	Hom;T>C	518;0|14
N	N	-	7	55214348	55214348	C	T	snp	synonymous SNV	C474T	N158N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs2072454	0.475439	0.5151	0.5090	1	0	0	exonic	exonic	exonic	EGFR	EGFR	ENSG00000146648	synonymous SNV	synonymous SNV	unknown	EGFR:NM_005228:exon4:c.C474T:p.N158N,EGFR:NM_201284:exon4:c.C474T:p.N158N,EGFR:NM_201283:exon4:c.C474T:p.N158N,EGFR:NM_201282:exon4:c.C474T:p.N158N,	EGFR:uc022adm.1:exon4:c.C474T:p.N158N,EGFR:uc003tqi.3:exon4:c.C474T:p.N158N,EGFR:uc003tqh.3:exon4:c.C474T:p.N158N,EGFR:uc003tqj.3:exon4:c.C474T:p.N158N,EGFR:uc011kco.2:exon4:c.C315T:p.N105N,EGFR:uc003tqk.3:exon4:c.C474T:p.N158N,	UNKNOWN	Het;C>T	1390;47|64	Hom;C>T	2336;0|89
N	N	-	7	5521468	5521468	G	A	snp	synonymous SNV	C2095T	L699L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FBXL18	Fbxl18	ENSG00000155034	F-box and leucine rich repeat protein 18	chr7:5470966-5553429	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL18	https://www.uniprot.org/uniprot/Q96ME1		https://www.ncbi.nlm.nih.gov/omim/?term=609084	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL18&submit=Quick%0D%9833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL18	rs10951956	0.14996	0.1325	0.1477	0.50	3	6	exonic	exonic	exonic	FBXL18	FBXL18	ENSG00000155034	synonymous SNV	synonymous SNV	unknown	FBXL18:NM_024963:exon5:c.C2095T:p.L699L,	FBXL18:uc003son.4:exon5:c.C2095T:p.L699L,	UNKNOWN	Het;G>A	1852;113|98	Hom;G>A	3868;0|137
N	N	-	7	55218903	55218903	T	C	snp	intronic	 	 	 	 	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs2075109	0.503594	0	0	1	0	0	intronic	intronic	intronic	EGFR	EGFR	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;T>C	72;8|5	Hom;T>C	271;0|9
N	N	-	7	55219159	55219159	C	T	snp	intronic	 	 	 	 	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs2075110	0.519569	0	0	1	0	0	intronic	intronic	intronic	EGFR	EGFR	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;C>T	105;5|5	Hom;C>T	148;0|5
N	N	-	7	55220177	55220177	A	G	snp	intronic	 	 	 	 	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs11506105	0.550919	0	0	1	0	0	intronic	intronic	intronic	EGFR	EGFR	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;A>G	670;12|31	Hom;A>G	1158;0|42
N	N	-	7	55228053	55228053	A	T	snp	intronic	 	 	 	 	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs1558544	0.773363	0.6634	0.7697	1	0	0	intronic	intronic	intronic	EGFR	EGFR	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;A>T	484;22|25	Hom;A>T	1250;0|45
N	N	-	7	55238087	55238087	C	T	snp	synonymous SNV	C1968T	H656H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs10258429	0.11242	0.1175	0.0830	1	0	0	exonic	exonic	exonic	EGFR	EGFR	ENSG00000146648	synonymous SNV	synonymous SNV	unknown	EGFR:NM_201284:exon16:c.C1968T:p.H656H,	EGFR:uc003tqj.3:exon16:c.C1968T:p.H656H,	UNKNOWN	Het;C>T	1167;59|57	Hom;C>T	2782;0|103
N	N	-	7	55241755	55241755	G	A	snp	intronic	 	 	 	 	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs17337107	0.0227636	0.0306	0.0371	1	0	0	intronic	intronic	intronic	EGFR	EGFR	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;G>A	499;22|23	Hom;G>A	1352;0|50
N	N	-	7	55247532	55247532	C	T	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs845557	0.783946	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;C>T	61;12|4	Hom;C>T	315;0|11
N	N	-	7	55247610	55247610	C	T	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs17290392	0.139577	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;C>T	823;42|35	Hom;C>T	1750;1|62
N	N	-	7	55248231	55248231	A	G	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs12532468	0.497404	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;A>G	998;61|47	Hom;A>G	2316;0|80
N	N	-	7	55248488	55248488	G	A	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs13243364	0.478435	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;G>A	1869;85|88	Hom;G>A	3795;0|135
N	N	-	7	55248787	55248787	T	C	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs10241326	0.495407	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;T>C	2581;115|118	Hom;T>C	5320;3|190
N	N	-	7	55249063	55249063	G	A	snp	synonymous SNV	G2361A	Q787Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs1050171	0.432708	0.5424	0.5228	1	0	0	exonic	exonic	exonic	EGFR	EGFR	ENSG00000146648	synonymous SNV	synonymous SNV	unknown	EGFR:NM_005228:exon20:c.G2361A:p.Q787Q,	EGFR:uc022adm.1:exon20:c.G2361A:p.Q787Q,EGFR:uc010kzg.2:exon19:c.G2226A:p.Q742Q,EGFR:uc022ado.1:exon1:c.G66A:p.Q22Q,EGFR:uc022adn.1:exon19:c.G2226A:p.Q742Q,EGFR:uc011kco.2:exon20:c.G2202A:p.Q734Q,EGFR:uc003tqk.3:exon20:c.G2361A:p.Q787Q,	UNKNOWN	Het;G>A	2671;123|124	Hom;G>A	5716;4|216
N	N	-	7	55250026	55250026	A	G	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs2075101	0.491214	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;A>G	1667;80|80	Hom;A>G	3418;4|130
N	N	-	7	55250091	55250091	G	C	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs7795728	0.491214	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;G>C	1009;62|46	Hom;G>C	2227;1|85
N	N	-	7	55250130	55250130	G	A	snp	ncRNA_exonic	 	 	 	 	EGFR-AS1																		rs7795743	0.475839	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	EGFR-AS1	EGFR-AS1	ENSG00000224057	Na	Na	Na	Na	Na	Na	Het;G>A	618;42|31	Hom;G>A	1356;1|52
N	N	-	7	55268916	55268916	C	T	snp	synonymous SNV	C2982T	D994D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs2293347	0.141773	0.0704	0.1337	1	0	0	exonic	exonic	exonic	EGFR	EGFR	ENSG00000146648	synonymous SNV	synonymous SNV	unknown	EGFR:NM_005228:exon25:c.C2982T:p.D994D,	EGFR:uc022adm.1:exon25:c.C2982T:p.D994D,EGFR:uc010kzg.2:exon24:c.C2847T:p.D949D,EGFR:uc022adn.1:exon24:c.C2847T:p.D949D,EGFR:uc011kco.2:exon25:c.C2823T:p.D941D,EGFR:uc003tqk.3:exon25:c.C2982T:p.D994D,	UNKNOWN	Het;C>T	1589;87|76	Hom;C>T	3975;0|155
N	N	-	7	55273591	55273591	G	GA	indel	UTR3	*281G>GA	 	 	 	EGFR	Egfr	ENSG00000146648	epidermal growth factor receptor	chr7:55086714-55324313	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]	colorectal cancer; liver cancer; nasopharyngeal cancer; lupus erythematosus; hepatitis C; bladder cancer; Hyperparathyroidism, Secondary; breast cancer colorectal cancer stomach cancer; Carcinoma|Lymphatic Metastasis|Uterine Cervical Neoplasms; hair thickness; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; esophageal adenocarcinoma; rectal cancer; esophageal cancer ; oral cavity cancer; pharmacogenetic studies; Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma; Diarrhea|Drug Eruptions|Exanthema|Neoplasms; stomach cancer; Carcinoma|Lung Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; cervical squamous cell carcinoma.; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms; Brain Neoplasms|Glioblastoma|Neoplasm Recurrence, Local; Biliary Tract Neoplasms|Carcinoma, Hepatocellular|Liver Neoplasms; Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms|Neoplasm of lung ; Carcinoma, Squamous Cell|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; asthma; breast cancer lung cancer; Lung Neoplasms|Neoplasms, Glandular and Epithelial; Adenocarcinoma, Papillary|Lung Neoplasms; chronic obstructive pulmonary disease; prostatic hyperplasia; Carcinoma, Squamous Cell|Esophageal Neoplasms; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenomatosis, Pulmonary|Lung Neoplasms|Neoplasm Invasiveness|Neoplasm of lung |Precancerous Conditions; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; lung cancer; smoking behavior; Breast Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; primary lung adenocarcinomas; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Mucinous|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local; Adenocarcinoma|Lung Neoplasms|Pleural Effusion; kidney failure, chronic polycystic kidney disease; Leukemia, Lymphocytic, Chronic, B-Cell; Glioblastoma; anaplastic astrocytoma; glioblastoma multiforme; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Endometrial Neoplasms; Adenocarcinoma|Chromosome Aberrations|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Cardiomyopathy, Dilated|; Rectal Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Respiratory Function Tests; Cystadenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|pancreatic neoplasm|Pancreatic Neoplasms; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung; head and neck cancer; tumours of the upper aerodigestive tract; Body Height; pancreatic cancer; squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung |Neoplasm Recurrence, Local; null; epithelial ovarian cancer ; Adenocarcinoma|Chromosome Deletion|Lung Neoplasms|Neoplasm of lung ; Type 2 Diabetes| edema | rosiglitazone; lung cancer; gefitinib response; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms; Adenocarcinoma|Lung Neoplasms; breast cancer; Carcinoma, Non-Small-Cell Lung|Exanthema|Lung Neoplasms; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Cholangiocarcinoma; lung cancer; gastric cancer; Anus Neoplasms|Carcinoma, Squamous Cell|Squamous cell carcinoma|Tonsillar Neoplasms; Pancreatic Neoplasms; esophageal cancer; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; Osteosarcoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|Neoplasm of lung ; pancreatic neoplasm|Pancreatic Neoplasms; lung cancer; colorectal cancer; esophageal cancer; stomach cancer; Adenocarcinoma|Lung Neoplasms|Neoplasm Metastasis; brain cancer; Carcinoma, Papillary|Thyroid Neoplasms; Carcinoma, Non-Small-Cell Lung; cutaneous squamous cell carcinoma; urinary calculus; prostate cancer; Neoplasm Metastasis|Thyroid Neoplasms; Astrocytoma|Brain Neoplasms; F-18 fluorodeoxyglucose; melanoma; Acute Coronary Syndrome|; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Lung Neoplasms|Uterine Cervical Neoplasms; gefitinib toxicity; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Otorhinolaryngologic Neoplasms; Colonic Neoplasms|Colorectal Neoplasms|Neoplasm Metastasis|Recurrence; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Cleft Lip|Cleft Palate; polycystic kidney disease; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Chromosome Aberrations|Chromosome abnormality|Lung Neoplasms|Neoplasm of lung ; several psychiatric disorders; normal variation; radiation sensitivity; lung cancer ; Adenocarcinoma|Lung Neoplasms|Lymphatic Metastasis; Brain Neoplasms|Glioma; Glioma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Pleural Effusion, Malignant; glioblastoma multiforme; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; breast cancer ; Brain Neoplasms|Glioblastoma; Adenocarcinoma|Carcinoma, Giant Cell|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Recurrence, Local; Bone Mineral Density; Bronchial Hyperreactivity|Hypersensitivity; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Endometriosis	Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;NAS|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001942;hair follicle development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006412;translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0006950;response to stress;NAS|GO:0006970;response to osmotic stress;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007275;multicellular organism development;IEA|GO:0007435;salivary gland morphogenesis;IEA|GO:0007494;midgut development;IEA|GO:0007611;learning or memory;ISS|GO:0007623;circadian rhythm;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0010960;magnesium ion homeostasis;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021795;cerebral cortex cell migration;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031659;positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032355;response to estradiol;IEA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033590;response to cobalamin;IEA|GO:0033594;response to hydroxyisoflavone;IEA|GO:0033993;response to lipid;IEA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0035690;cellular response to drug;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042060;wound healing;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042698;ovulation cycle;IEA|GO:0042743;hydrogen peroxide metabolic process;IEA|GO:0043006;activation of phospholipase A2 activity by calcium-mediated signaling;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043586;tongue development;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045739;positive regulation of DNA repair;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046328;regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IMP|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048143;astrocyte activation;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050999;regulation of nitric-oxide synthase activity;IDA|GO:0051205;protein insertion into membrane;TAS|GO:0051592;response to calcium ion;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060571;morphogenesis of an epithelial fold;IEA|GO:0061024;membrane organization;TAS|GO:0061029;eyelid development in camera-type eye;IEA|GO:0070141;response to UV-A;IDA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097421;liver regeneration;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1903078;positive regulation of protein localization to plasma membrane;IDA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:1905208;negative regulation of cardiocyte differentiation;IMP|GO:2000145;regulation of cell motility;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031901;early endosome membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070435;Shc-EGFR complex;ISS|GO:0097489;multivesicular body, internal vesicle lumen;IDA	GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;NAS|GO:0004672;protein kinase activity;IEA|GO:0004709;MAP kinase kinase kinase activity;NAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0005006;epidermal growth factor-activated receptor activity;IMP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0030235;nitric-oxide synthase regulator activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IDA|GO:0048408;epidermal growth factor binding;IEA|GO:0051015;actin filament binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EGFR	https://www.uniprot.org/uniprot/P00533	https://hpo.jax.org/app/browse/search?q=EGFR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131550	http://www.informatics.jax.org/searchtool/Search.do?query=EGFR&submit=Quick%0D%8900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFR	rs5884404	0.452077	0	0	1	0	0	UTR3	UTR3	UTR3	EGFR(NM_005228:c.*281G>GA)	EGFR(uc003tqk.3:c.*281G>GA,uc022adn.1:c.*281G>GA,uc011kco.2:c.*281G>GA)	ENSG00000146648(ENST00000275493:c.*281G>GA,ENST00000454757:c.*281G>GA)	Na	Na	Na	Na	Na	Na	Het;+A	588;43|37	Hom;+A	1367;3|61
N	N	-	7	5530782	5530782	C	T	snp	intronic	 	 	 	 	FBXL18	Fbxl18	ENSG00000155034	F-box and leucine rich repeat protein 18	chr7:5470966-5553429	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL18	https://www.uniprot.org/uniprot/Q96ME1		https://www.ncbi.nlm.nih.gov/omim/?term=609084	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL18&submit=Quick%0D%9833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL18	rs10951957	0.180112	0	0	1	0	0	intronic	intronic	intronic	FBXL18	FBXL18	ENSG00000155034	Na	Na	Na	Na	Na	Na	Het;C>T	272;3|10	Hom;C>T	239;0|8
N	N	-	7	5530954	5530954	G	A	snp	synonymous SNV	C1908T	F636F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	FBXL18	Fbxl18	ENSG00000155034	F-box and leucine rich repeat protein 18	chr7:5470966-5553429	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL18	https://www.uniprot.org/uniprot/Q96ME1		https://www.ncbi.nlm.nih.gov/omim/?term=609084	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL18&submit=Quick%0D%9833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL18	rs11975313	0.179712	0.1690	0.1703	0.50	3	6	exonic	exonic	exonic	FBXL18	FBXL18	ENSG00000155034	synonymous SNV	synonymous SNV	unknown	FBXL18:NM_024963:exon4:c.C1908T:p.F636F,	FBXL18:uc003son.4:exon4:c.C1908T:p.F636F,FBXL18:uc003soo.2:exon4:c.C1908T:p.F636F,	UNKNOWN	Het;G>A	970;42|44	Hom;G>A	2406;0|92
N	N	-	7	55322918	55322918	C	T	snp	ncRNA_exonic	 	 	 	 	ELDR																		rs6949724	0.287141	0	0	1	0	0	ncRNA_exonic	intergenic	intronic	ELDR	GU228584(dist=43597),LANCL2(dist=110223)	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;C>T	430;10|19	Hom;C>T	671;0|24
N	N	-	7	55322933	55322933	C	A	snp	ncRNA_exonic	 	 	 	 	ELDR																		rs6949870	0.287141	0	0	1	0	0	ncRNA_exonic	intergenic	intronic	ELDR	GU228584(dist=43612),LANCL2(dist=110208)	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;C>A	561;11|25	Hom;C>A	867;0|32
N	N	-	7	55323031	55323031	A	G	snp	ncRNA_exonic	 	 	 	 	ELDR																		rs6969564	0.276957	0	0	1	0	0	ncRNA_exonic	intergenic	intronic	ELDR	GU228584(dist=43710),LANCL2(dist=110110)	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;A>G	1092;35|51	Hom;A>G	2088;0|77
N	N	-	7	55323098	55323098	G	A	snp	ncRNA_exonic	 	 	 	 	ELDR																		rs6948867	0.286342	0	0	1	0	0	ncRNA_exonic	intergenic	intronic	ELDR	GU228584(dist=43777),LANCL2(dist=110043)	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;G>A	721;30|35	Hom;G>A	1482;0|53
N	N	-	7	55323334	55323334	T	C	snp	upstream	 	 	 	 	ELDR																		rs6974156	0.30611	0	0	1	0	0	upstream	intergenic	intronic	ELDR	GU228584(dist=44013),LANCL2(dist=109807)	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;T>C	573;28|19	Hom;T>C	1750;0|45
N	N	-	7	55323345	55323345	T	TCG	indel	upstream	 	 	 	 	ELDR																		rs10700758	0.30611	0	0	1	0	0	upstream	intergenic	intronic	ELDR	GU228584(dist=44024),LANCL2(dist=109796)	ENSG00000146648	Na	Na	Na	Na	Na	Na	Het;+CG	524;26|16	Hom;+CG	1460;0|33
N	N	-	7	55327599	55327599	A	G	snp	ncRNA_exonic	 	 	 	 	CALM1P2																		rs7787331	0.350839	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ELDR(dist=4271),LANCL2(dist=105542)	GU228584(dist=48278),LANCL2(dist=105542)	ENSG00000230564	Na	Na	Na	Na	Na	Na	Het;A>G	304;9|13	Hom;A>G	365;0|13
N	N	-	7	55327748	55327748	C	T	snp	ncRNA_exonic	 	 	 	 	CALM1P2																		rs1525642	0.392372	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ELDR(dist=4420),LANCL2(dist=105393)	GU228584(dist=48427),LANCL2(dist=105393)	ENSG00000230564	Na	Na	Na	Na	Na	Na	Het;C>T	85;3|5	Hom;C>T	225;0|9
N	N	-	7	5540769	5540769	A	C	snp	synonymous SNV	T1131G	T377T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FBXL18	Fbxl18	ENSG00000155034	F-box and leucine rich repeat protein 18	chr7:5470966-5553429	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL18	https://www.uniprot.org/uniprot/Q96ME1		https://www.ncbi.nlm.nih.gov/omim/?term=609084	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL18&submit=Quick%0D%9833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL18	rs6953642	0.94389	0.9284	0.9119	1	0	0	exonic	exonic	exonic	FBXL18	FBXL18	ENSG00000155034	synonymous SNV	synonymous SNV	unknown	FBXL18:NM_024963:exon3:c.T1131G:p.T377T,	FBXL18:uc003son.4:exon3:c.T1131G:p.T377T,FBXL18:uc003soo.2:exon3:c.T1131G:p.T377T,	UNKNOWN	Het;A>C	839;32|35	Hom;A>C	2191;0|74
N	N	-	7	5541009	5541009	C	A	snp	synonymous SNV	G891T	L297L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FBXL18	Fbxl18	ENSG00000155034	F-box and leucine rich repeat protein 18	chr7:5470966-5553429	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL18	https://www.uniprot.org/uniprot/Q96ME1		https://www.ncbi.nlm.nih.gov/omim/?term=609084	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL18&submit=Quick%0D%9833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL18	rs12667381	0.167931	0.1580	0.1478	1	0	0	exonic	exonic	exonic	FBXL18	FBXL18	ENSG00000155034	synonymous SNV	synonymous SNV	unknown	FBXL18:NM_024963:exon3:c.G891T:p.L297L,	FBXL18:uc003son.4:exon3:c.G891T:p.L297L,FBXL18:uc003soo.2:exon3:c.G891T:p.L297L,	UNKNOWN	Het;C>A	1686;102|80	Hom;C>A	4581;2|171
N	N	-	7	5541657	5541657	G	A	snp	synonymous SNV	C243T	S81S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FBXL18	Fbxl18	ENSG00000155034	F-box and leucine rich repeat protein 18	chr7:5470966-5553429	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL18	https://www.uniprot.org/uniprot/Q96ME1		https://www.ncbi.nlm.nih.gov/omim/?term=609084	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL18&submit=Quick%0D%9833ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL18	rs4724704	0.706869	0.6924	0.6854	1	0	0	exonic	exonic	exonic	FBXL18	FBXL18	ENSG00000155034	synonymous SNV	synonymous SNV	unknown	FBXL18:NM_024963:exon3:c.C243T:p.S81S,	FBXL18:uc003son.4:exon3:c.C243T:p.S81S,FBXL18:uc003soo.2:exon3:c.C243T:p.S81S,	UNKNOWN	Het;G>A	797;12|34	Hom;G>A	1042;0|40
N	N	-	7	56296969	56296969	C	T	snp	ncRNA_exonic	 	 	 	 	CCNJP1																		rs816390	0.460064	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NUPR1L(dist=112879),LOC650226(dist=194428)	PSPH(dist=112879),DQ584971(dist=147156)	ENSG00000227491	Na	Na	Na	Na	Na	Na	Het;C>T	391;27|18	Hom;C>T	1123;0|40
N	N	-	7	56297062	56297062	G	T	snp	ncRNA_exonic	 	 	 	 	CCNJP1																		rs816391	0.458866	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NUPR1L(dist=112972),LOC650226(dist=194335)	PSPH(dist=112972),DQ584971(dist=147063)	ENSG00000227491	Na	Na	Na	Na	Na	Na	Het;G>T	775;42|38	Hom;G>T	1904;0|71
N	N	-	7	56356744	56356744	G	T	snp	ncRNA_exonic	 	 	 	 	AC073136.1																		rs3813510	0.420527	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NUPR1L(dist=172654),LOC650226(dist=134653)	PSPH(dist=172654),DQ584971(dist=87381)	ENSG00000223559	Na	Na	Na	Na	Na	Na	Het;G>T	590;29|27	Hom;G>T	1251;0|50
N	N	-	7	56370388	56370388	T	TA	indel	intergenic	 	 	 	 	AC073136.1																		rs34984264	0.429912	0	0	1	0	0	intergenic	intergenic	intergenic	NUPR1L(dist=186298),LOC650226(dist=121009)	PSPH(dist=186298),DQ584971(dist=73737)	ENSG00000223559(dist=11270),ENSG00000224155(dist=1983)	Na	Na	Na	Na	Na	Na	Het;+A	119;12|8	Hom;+A	102;0|5
N	N	-	7	56478020	56478020	C	A	snp	intergenic	 	 	 	 	AC092423.1																		rs62460135	0.278355	0	0	1	0	0	intergenic	intergenic	intergenic	NUPR1L(dist=293930),LOC650226(dist=13377)	DQ599872(dist=31845),LOC650226(dist=13377)	ENSG00000232944(dist=1117),ENSG00000237268(dist=11530)	Na	Na	Na	Na	Na	Na	Het;C>A	302;6|16	Hom;C>A	342;0|14
N	N	-	7	56516052	56516052	C	A	snp	ncRNA_exonic	 	 	 	 	LOC650226																		rs62460151	0.278355	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC650226	LOC650226	ENSG00000237268	Na	Na	Na	Na	Na	Na	Het;C>A	1527;84|75	Hom;C>A	3689;2|144
N	N	-	7	57128901	57128901	A	G	snp	ncRNA_exonic	 	 	 	 	PHKG1P4																		rs62463829	0.947484	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR4283-2(dist=105330),ZNF479(dist=58425)	DL490813(dist=52169),ZNF479(dist=58425)	ENSG00000229508	Na	Na	Na	Na	Na	Na	Het;A>G	530;2|19	Hom;A>G	1302;0|30
N	N	-	7	578186	578186	G	C	snp	intergenic	 	 	 	 	HRAT92																		rs9718970	0.533546	0	0	1	0	0	intergenic	intergenic	intergenic	FLJ44511(dist=13317),PRKAR1B(dist=10648)	FLJ44511(dist=13317),PRKAR1B(dist=10648)	ENSG00000223855(dist=13317),ENSG00000188191(dist=10648)	Na	Na	Na	Na	Na	Na	Het;G>C	59;6|5	Hom;G>C	133;0|7
N	N	-	7	5922056	5922056	T	C	snp	intronic	 	 	 	 	OCM	Ocm	ENSG00000122543	oncomodulin	chr7:5919458-5925993	Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit deafness and degeneration of inner and outer cochlear hair cells and pillar cells.				GO:0005509;calcium ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OCM	https://www.uniprot.org/uniprot/P0CE72		https://www.ncbi.nlm.nih.gov/omim/?term=164795	http://www.informatics.jax.org/searchtool/Search.do?query=OCM&submit=Quick%0D%5422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OCM	rs13236282	0.347244	0	0	1	0	0	intronic	intronic	intronic	OCM	OCM	ENSG00000122543	Na	Na	Na	Na	Na	Na	Het;T>C	276;19|11	Hom;T>C	734;0|21
N	N	-	7	5922100	5922100	A	AT	indel	intronic	 	 	 	 	OCM	Ocm	ENSG00000122543	oncomodulin	chr7:5919458-5925993	Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit deafness and degeneration of inner and outer cochlear hair cells and pillar cells.				GO:0005509;calcium ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OCM	https://www.uniprot.org/uniprot/P0CE72		https://www.ncbi.nlm.nih.gov/omim/?term=164795	http://www.informatics.jax.org/searchtool/Search.do?query=OCM&submit=Quick%0D%5422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OCM	rs35069590	0.285543	0.2222	0.3155	1	0	0	intronic	intronic	intronic	OCM	OCM	ENSG00000122543	Na	Na	Na	Na	Na	Na	Het;+T	773;43|25	Hom;+T	2611;2|68
N	N	-	7	5923738	5923738	A	C	snp	intronic	 	 	 	 	OCM	Ocm	ENSG00000122543	oncomodulin	chr7:5919458-5925993	Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit deafness and degeneration of inner and outer cochlear hair cells and pillar cells.				GO:0005509;calcium ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OCM	https://www.uniprot.org/uniprot/P0CE72		https://www.ncbi.nlm.nih.gov/omim/?term=164795	http://www.informatics.jax.org/searchtool/Search.do?query=OCM&submit=Quick%0D%5422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OCM	rs3890913	0.722444	0	0	1	0	0	intronic	intronic	intronic	OCM	OCM	ENSG00000122543	Na	Na	Na	Na	Na	Na	Het;A>C	302;28|14	Hom;A>C	1100;0|37
N	N	-	7	6037057	6037058	GA	G	indel	intronic	 	 	 	 	PMS2	Pms2	ENSG00000122512	PMS1 homolog 2, mismatch repair system component	chr7:6012870-6048756	The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]	prostate cancer; Colorectal Neoplasms; breast cancer; ovarian cancer; endometrial cancer; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; lung cancer ; lung cancer; chronic obstructive pulmonary disease; bladder cancer; Tobacco Use Disorder; epithelial ovarian cancer ; colorectal cancer; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; ovarian cancer ; thyroid cancer	Homozygotes for targeted null mutations exhibit microsatellite instability and develop a high incidence of lymphomas with some sarcomas after 6 months of age. Mutant males are sterile, with impaired synapsis and only abnormal spermatozoa.	TP53 Regulates Transcription of DNA Repair Genes	GO:0006281;DNA repair;IEA|GO:0006298;mismatch repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;IBA|GO:0042493;response to drug;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000932;P-body;IDA|GO:0005634;nucleus;IC|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0032300;mismatch repair complex;IEA|GO:0032389;MutLalpha complex;IBA	GO:0003677;DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IBA|GO:0030983;mismatched DNA binding;IEA|GO:0032138;single base insertion or deletion binding;IDA|GO:0032407;MutSalpha complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PMS2	https://www.uniprot.org/uniprot/P54278	https://hpo.jax.org/app/browse/search?q=PMS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600259	http://www.informatics.jax.org/searchtool/Search.do?query=PMS2&submit=Quick%0D%5420ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PMS2	rs549498051	0.453075	0	0.4422	1	0	0	intronic	intronic	intronic	PMS2	PMS2	ENSG00000122512	Na	Na	Na	Na	Na	Na	Het;-A	696;10|44	Hom;-A	846;6|50
N	N	-	7	61737448	61737448	G	A	snp	intergenic	 	 	 	 	NONE																		rs149383348	0.000599042	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),ZNF733P(dist=1014222)	NONE(dist=NONE),ZNF733P(dist=1014222)	NONE(dist=NONE),ENSG00000233918(dist=84421)	Na	Na	Na	Na	Na	Na	Het;G>A	392;5|18	Hom;G>A	571;1|23
N	N	-	7	61822054	61822054	T	C	snp	ncRNA_exonic	 	 	 	 	AC128676.1																		rs78213562	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NONE(dist=NONE),ZNF733P(dist=929616)	NONE(dist=NONE),ZNF733P(dist=929616)	ENSG00000233918	Na	Na	Na	Na	Na	Na	Het;T>C	404;25|14	Hom;T>C	962;1|23
N	N	-	7	61822102	61822102	T	A	snp	ncRNA_exonic	 	 	 	 	AC128676.1																		rs77527893	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NONE(dist=NONE),ZNF733P(dist=929568)	NONE(dist=NONE),ZNF733P(dist=929568)	ENSG00000233918	Na	Na	Na	Na	Na	Na	Het;T>A	119;7|4	Hom;T>A	512;0|12
N	N	-	7	61822110	61822110	T	C	snp	ncRNA_exonic	 	 	 	 	AC128676.1																		rs74886347	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	NONE(dist=NONE),ZNF733P(dist=929560)	NONE(dist=NONE),ZNF733P(dist=929560)	ENSG00000233918	Na	Na	Na	Na	Na	Na	Het;T>C	116;8|4	Hom;T>C	512;0|12
N	N	-	7	61822485	61822485	A	T	snp	downstream	 	 	 	 	AC128676.1																		rs62455653	0	0	0	1	0	0	intergenic	intergenic	downstream	NONE(dist=NONE),ZNF733P(dist=929185)	NONE(dist=NONE),ZNF733P(dist=929185)	ENSG00000233918	Na	Na	Na	Na	Na	Na	Het;A>T	5502;32|165	Hom;A>T	6007;21|179
N	N	-	7	61822664	61822664	C	G	snp	downstream	 	 	 	 	AC128676.1																		rs7786480	0.819289	0	0	1	0	0	intergenic	intergenic	downstream	NONE(dist=NONE),ZNF733P(dist=929006)	NONE(dist=NONE),ZNF733P(dist=929006)	ENSG00000233918	Na	Na	Na	Na	Na	Na	Het;C>G	584;4|15	Hom;C>G	1140;0|28
N	N	-	7	63022890	63022890	G	C	snp	ncRNA_exonic	 	 	 	 	SLC29A4P2																		rs7456994	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC100287834(dist=163471),MIR4283-2(dist=58578)	LOC100287834(dist=163471),MIR4283-1(dist=58578)	ENSG00000214660	Na	Na	Na	Na	Na	Na	Het;G>C	2094;51|88	Hom;G>C	3023;0|106
N	N	-	7	63028180	63028180	G	C	snp	ncRNA_exonic	 	 	 	 	TNRC18P2																		rs2312368	0.809305	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC100287834(dist=168761),MIR4283-2(dist=53288)	LOC100287834(dist=168761),MIR4283-1(dist=53288)	ENSG00000223566	Na	Na	Na	Na	Na	Na	Het;G>C	2096;51|91	Hom;G>C	2982;0|99
N	N	-	7	63028422	63028422	G	C	snp	ncRNA_intronic	 	 	 	 	TNRC18P2																		rs62473972	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC100287834(dist=169003),MIR4283-2(dist=53046)	LOC100287834(dist=169003),MIR4283-1(dist=53046)	ENSG00000223566	Na	Na	Na	Na	Na	Na	Het;G>C	1133;16|35	Hom;G>C	1827;0|49
N	N	-	7	63029456	63029456	C	T	snp	ncRNA_exonic	 	 	 	 	TNRC18P2																		rs7801231	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC100287834(dist=170037),MIR4283-2(dist=52012)	LOC100287834(dist=170037),MIR4283-1(dist=52012)	ENSG00000223566	Na	Na	Na	Na	Na	Na	Het;C>T	1744;26|74	Hom;C>T	2407;0|81
N	N	-	7	63033229	63033229	T	TACGGCCCCCGGCGCC	indel	ncRNA_exonic	 	 	 	 	TNRC18P2																		rs760615050	0	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC100287834(dist=173810),MIR4283-2(dist=48239)	LOC100287834(dist=173810),MIR4283-1(dist=48239)	ENSG00000223566	Na	Na	Na	Na	Na	Na	Het;+ACGGCCCCCGGCGCC	355;16|11	Hom;+ACGGCCCCCGGCGCC	400;0|9
N	N	-	7	63204090	63204090	C	G	snp	upstream	 	 	 	 	DQ597235																		rs10949845	0.439896	0	0	1	0	0	intergenic	upstream	intergenic	MIR4283-2(dist=122543),LINC01005(dist=280706)	DQ597235,DQ599768	ENSG00000226411(dist=43271),ENSG00000271466(dist=24545)	Na	Na	Na	Na	Na	Na	Het;C>G	78;4|3	Hom;C>G	229;0|7
N	N	-	7	63205293	63205293	G	A	snp	downstream	 	 	 	 	DQ597235																		rs1734035	0.690495	0	0	1	0	0	intergenic	downstream	intergenic	MIR4283-2(dist=123746),LINC01005(dist=279503)	DQ597235,DQ599768	ENSG00000226411(dist=44474),ENSG00000271466(dist=23342)	Na	Na	Na	Na	Na	Na	Het;G>A	90;7|5	Hom;G>A	658;0|24
N	N	-	7	63208193	63208193	C	G	snp	downstream	 	 	 	 	DQ574660																		rs2952509	0.53734	0	0	1	0	0	intergenic	downstream	intergenic	MIR4283-2(dist=126646),LINC01005(dist=276603)	DQ574660,DQ584939,DQ599799	ENSG00000226411(dist=47374),ENSG00000271466(dist=20442)	Na	Na	Na	Na	Na	Na	Het;C>G	460;40|25	Hom;C>G	1152;0|40
N	N	-	7	63208423	63208423	A	G	snp	downstream	 	 	 	 	DQ584939																		rs2952510	0.529752	0	0	1	0	0	intergenic	downstream	intergenic	MIR4283-2(dist=126876),LINC01005(dist=276373)	DQ584939,DQ599799	ENSG00000226411(dist=47604),ENSG00000271466(dist=20212)	Na	Na	Na	Na	Na	Na	Het;A>G	434;30|23	Hom;A>G	1467;2|52
N	N	-	7	63209650	63209650	T	C	snp	intergenic	 	 	 	 	AC079355.1																		rs6976539	0.782748	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4283-2(dist=128103),LINC01005(dist=275146)	DQ599799(dist=1897),BC042811(dist=151551)	ENSG00000226411(dist=48831),ENSG00000271466(dist=18985)	Na	Na	Na	Na	Na	Na	Het;T>C	466;4|13	Hom;T>C	2055;0|57
N	N	-	7	63225780	63225780	G	A	snp	intergenic	 	 	 	 	AC079355.1																		rs62473823	0.285144	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4283-2(dist=144233),LINC01005(dist=259016)	DQ599799(dist=18027),BC042811(dist=135421)	ENSG00000226411(dist=64961),ENSG00000271466(dist=2855)	Na	Na	Na	Na	Na	Na	Het;G>A	235;29|13	Hom;G>A	1811;0|39
N	N	-	7	63226279	63226279	C	T	snp	intergenic	 	 	 	 	AC079355.1																		rs7809374	0.527157	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4283-2(dist=144732),LINC01005(dist=258517)	DQ599799(dist=18526),BC042811(dist=134922)	ENSG00000226411(dist=65460),ENSG00000271466(dist=2356)	Na	Na	Na	Na	Na	Na	Het;C>T	637;12|26	Hom;C>T	1152;0|41
N	N	-	7	63226841	63226841	G	T	snp	intergenic	 	 	 	 	AC079355.1																		rs4717921	0.528155	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4283-2(dist=145294),LINC01005(dist=257955)	DQ599799(dist=19088),BC042811(dist=134360)	ENSG00000226411(dist=66022),ENSG00000271466(dist=1794)	Na	Na	Na	Na	Na	Na	Het;G>T	1588;69|73	Hom;G>T	3053;1|112
N	N	-	7	63226899	63226899	C	T	snp	intergenic	 	 	 	 	AC079355.1																		rs4717922	0.528355	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4283-2(dist=145352),LINC01005(dist=257897)	DQ599799(dist=19146),BC042811(dist=134302)	ENSG00000226411(dist=66080),ENSG00000271466(dist=1736)	Na	Na	Na	Na	Na	Na	Het;C>T	1488;63|71	Hom;C>T	2849;1|102
N	N	-	7	63227217	63227217	C	T	snp	intergenic	 	 	 	 	AC079355.1																		rs2952512	0.528754	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4283-2(dist=145670),LINC01005(dist=257579)	DQ599799(dist=19464),BC042811(dist=133984)	ENSG00000226411(dist=66398),ENSG00000271466(dist=1418)	Na	Na	Na	Na	Na	Na	Het;C>T	1477;69|70	Hom;C>T	2612;0|91
N	N	-	7	63227478	63227478	G	A	snp	intergenic	 	 	 	 	AC079355.1																		rs2312650	0.528554	0	0	1	0	0	intergenic	intergenic	intergenic	MIR4283-2(dist=145931),LINC01005(dist=257318)	DQ599799(dist=19725),BC042811(dist=133723)	ENSG00000226411(dist=66659),ENSG00000271466(dist=1157)	Na	Na	Na	Na	Na	Na	Het;G>A	2758;138|127	Hom;G>A	6157;2|227
N	N	-	7	63229377	63229377	C	T	snp	ncRNA_exonic	 	 	 	 	CICP24																		rs62474968	0.284744	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR4283-2(dist=147830),LINC01005(dist=255419)	DQ599799(dist=21624),BC042811(dist=131824)	ENSG00000271466	Na	Na	Na	Na	Na	Na	Het;C>T	981;42|46	Hom;C>T	2153;0|82
N	N	-	7	63230769	63230769	G	A	snp	ncRNA_exonic	 	 	 	 	CICP24																		rs62474971	0.527955	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR4283-2(dist=149222),LINC01005(dist=254027)	DQ599799(dist=23016),BC042811(dist=130432)	ENSG00000271466	Na	Na	Na	Na	Na	Na	Het;G>A	1029;25|49	Hom;G>A	1179;0|45
N	N	-	7	63232187	63232187	T	C	snp	upstream	 	 	 	 	CICP24																		rs2012083	0.529153	0	0	1	0	0	intergenic	intergenic	upstream	MIR4283-2(dist=150640),LINC01005(dist=252609)	DQ599799(dist=24434),BC042811(dist=129014)	ENSG00000271466	Na	Na	Na	Na	Na	Na	Het;T>C	279;18|15	Hom;T>C	811;0|22
N	N	-	7	63642371	63642371	C	G	snp	ncRNA_exonic	 	 	 	 	SAPCD2P1																		rs6460124	0.525359	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	ZNF727(dist=103444),ZNF735(dist=25210)	TRNA(dist=71448),ZNF735(dist=25210)	ENSG00000213644	Na	Na	Na	Na	Na	Na	Het;C>G	210;3|6	Hom;C>G	120;0|6
N	N	-	7	63673608	63673608	C	T	snp	ncRNA_intronic	 	 	 	 	ZNF735																		rs10252019	0.766174	0.7116	0.6966	1	0	0	intronic	intronic	ncRNA_intronic	ZNF735	ZNF735	ENSG00000223614	Na	Na	Na	Na	Na	Na	Het;C>T	406;26|21	Hom;C>T	920;0|36
N	N	-	7	63673691	63673691	A	G	snp	ncRNA_intronic	 	 	 	 	ZNF735																		rs13233809	0.367812	0	0	1	0	0	intronic	intronic	ncRNA_intronic	ZNF735	ZNF735	ENSG00000223614	Na	Na	Na	Na	Na	Na	Het;A>G	72;18|5	Hom;A>G	352;0|13
N	N	-	7	63679733	63679733	A	G	snp	nonsynonymous SNV	A304G	S102G	polar,hydrophilic,neutral	aliphatic,neutral	ZNF735																		rs10270226	0.672724	0	0.6404	0.00	0	6	exonic	exonic	ncRNA_exonic	ZNF735	ZNF735	ENSG00000223614	nonsynonymous SNV	nonsynonymous SNV	Na	ZNF735:NM_001159524:exon4:c.A304G:p.S102G,	ZNF735:uc011kdn.2:exon4:c.A304G:p.S102G,	Na	Het;A>G	1365;59|64	Hom;A>G	2644;0|94
N	N	-	7	6370144	6370144	G	A	snp	synonymous SNV	C642T	D214D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FAM220A	Fam220a	ENSG00000178397	family with sequence similarity 220 member A	chr7:6369040-6388612		Breath Tests	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0032092;positive regulation of protein binding;IEA	GO:0005634;nucleus;IEA	GO:0097677;STAT family protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAM220A			https://www.ncbi.nlm.nih.gov/omim/?term=616628	http://www.informatics.jax.org/searchtool/Search.do?query=FAM220A&submit=Quick%0D%14180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM220A	rs1043965	0.442292	0.3393	0.2964	1	0	0	exonic	exonic	exonic	FAM220A	FAM220A	ENSG00000178397	synonymous SNV	synonymous SNV	unknown	FAM220A:NM_001037163:exon2:c.C642T:p.D214D,	FAM220A:uc021zzf.1:exon1:c.C642T:p.D214D,FAM220A:uc003spu.3:exon2:c.C642T:p.D214D,	UNKNOWN	Het;G>A	1811;100|89	Hom;G>A	3722;3|140
N	N	-	7	64126536	64126536	G	C	snp	UTR5	-25784G>C	 	 	 	ZNF107	Zfp729b	ENSG00000196247	zinc finger protein 107	chr7:64126511-64171404	This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Calcium	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF107			https://www.ncbi.nlm.nih.gov/omim/?term=603989	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF107&submit=Quick%0D%16303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF107	rs6460174	0.602636	0	0	1	0	0	UTR5	UTR5	UTR5	ZNF107(NM_001282359:c.-125G>C,NM_016220:c.-25784G>C,NM_001282360:c.-125G>C,NM_001013746:c.-25784G>C)	ZNF107(uc003ttd.3:c.-25784G>C,uc003tte.3:c.-25784G>C)	ENSG00000196247(ENST00000360117:c.-25784G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	120;4|6	Hom;G>C	102;0|4
N	N	-	7	64126722	64126722	G	A	snp	intronic	 	 	 	 	ZNF107	Zfp729b	ENSG00000196247	zinc finger protein 107	chr7:64126511-64171404	This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Calcium	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF107			https://www.ncbi.nlm.nih.gov/omim/?term=603989	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF107&submit=Quick%0D%16303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF107	rs6460175	0.602037	0	0	1	0	0	intronic	intronic	intronic	ZNF107	ZNF107	ENSG00000196247	Na	Na	Na	Na	Na	Na	Het;G>A	200;9|9	Hom;G>A	139;0|7
N	N	-	7	64139524	64139524	G	A	snp	ncRNA_exonic	 	 	 	 	MIR6839																		rs35559940	0.910543	0	0.8333	1	0	0	ncRNA_exonic	intronic	ncRNA_intronic	MIR6839	ZNF107	ENSG00000271550	Na	Na	Na	Na	Na	Na	Het;G>A	1031;59|51	Hom;G>A	2122;0|82
N	N	-	7	64147015	64147015	A	G	snp	ncRNA_exonic	 	 	 	 	BC053669																		rs10263594	0.925919	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_intronic	ZNF107	BC053669	ENSG00000271550	Na	Na	Na	Na	Na	Na	Het;A>G	1787;75|76	Hom;A>G	3514;0|122
N	N	-	7	64152617	64152617	A	ACT	indel	intronic	 	 	 	 	ZNF107	Zfp729b	ENSG00000196247	zinc finger protein 107	chr7:64126511-64171404	This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Calcium	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF107			https://www.ncbi.nlm.nih.gov/omim/?term=603989	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF107&submit=Quick%0D%16303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF107	rs34862543	0.925319	0	0	1	0	0	intronic	intronic	intronic	ZNF107	ZNF107	ENSG00000196247	Na	Na	Na	Na	Na	Na	Het;+CT	116;5|4	Hom;+CT	188;0|5
N	N	-	7	6545335	6545335	G	A	snp	intronic	 	 	 	 	GRID2IP	Grid2ip	ENSG00000215045	Grid2 interacting protein	chr7:6537093-6591067	Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]		Mice homozygous for a knock-out allele display facilitated long-term depression induction at parallel fiber-Purkinje cell synapses as well as enhanced optokinetic response adaptation.		GO:0060292;long term synaptic depression;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GRID2IP			https://www.ncbi.nlm.nih.gov/omim/?term=610639	http://www.informatics.jax.org/searchtool/Search.do?query=GRID2IP&submit=Quick%0D%18303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRID2IP	rs9640023	0.294529	0	0	1	0	0	intronic	intronic	intronic	GRID2IP	GRID2IP	ENSG00000215045	Na	Na	Na	Na	Na	Na	Het;G>A	305;2|10	Hom;G>A	198;0|7
N	N	-	7	6655932	6655932	C	G	snp	intronic	 	 	 	 	ZNF853	Zfp853	ENSG00000236609	zinc finger protein 853	chr7:6655248-6663921			 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF853				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF853&submit=Quick%0D%19431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF853	rs34060186	0.296925	0	0	1	0	0	intronic	intronic	intronic	ZNF853	ZNF853	ENSG00000236609	Na	Na	Na	Na	Na	Na	Het;C>G	72;4|3	Hom;C>G	351;0|14
N	N	-	7	6656830	6656830	G	A	snp	nonsynonymous SNV	G22A	G8R	aliphatic,neutral	polar,hydrophilic,charged(+)	ZNF853	Zfp853	ENSG00000236609	zinc finger protein 853	chr7:6655248-6663921			 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF853				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF853&submit=Quick%0D%19431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF853	rs2243563	0.741214	0.6207	0.7229	0.10	1	10	exonic	exonic	exonic	ZNF853	ZNF853	ENSG00000236609	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF853:NM_017560:exon2:c.G22A:p.G8R,	ZNF853:uc011jwz.2:exon2:c.G22A:p.G8R,	UNKNOWN	Het;G>A	841;15|38	Hom;G>A	1945;0|74
N	N	-	7	6656897	6656897	A	G	snp	nonsynonymous SNV	A89G	Q30R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ZNF853	Zfp853	ENSG00000236609	zinc finger protein 853	chr7:6655248-6663921			 				GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF853				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF853&submit=Quick%0D%19431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF853	rs1806552	0.771765	0	0.7241	0.10	1	10	exonic	exonic	exonic	ZNF853	ZNF853	ENSG00000236609	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF853:NM_017560:exon2:c.A89G:p.Q30R,	ZNF853:uc011jwz.2:exon2:c.A89G:p.Q30R,	UNKNOWN	Het;A>G	1033;37|48	Hom;A>G	2269;0|82
N	N	-	7	66904991	66904991	G	C	snp	intergenic	 	 	 	 	ENSG00000265600																		rs4717385	0.645367	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01372(dist=99979),LOC102723427(dist=580249)	BC017910(dist=99979),U6(dist=1961197)	ENSG00000265600(dist=83225),ENSG00000226392(dist=187827)	Na	Na	Na	Na	Na	Na	Het;G>C	206;34|13	Hom;G>C	1187;0|27
N	N	-	7	66905002	66905002	T	C	snp	intergenic	 	 	 	 	ENSG00000265600																		rs4717386	0.645367	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01372(dist=99990),LOC102723427(dist=580238)	BC017910(dist=99990),U6(dist=1961186)	ENSG00000265600(dist=83236),ENSG00000226392(dist=187816)	Na	Na	Na	Na	Na	Na	Het;T>C	534;37|15	Hom;T>C	1407;0|30
N	N	-	7	66905003	66905003	G	A	snp	intergenic	 	 	 	 	ENSG00000265600																		rs4718573	0.645367	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01372(dist=99991),LOC102723427(dist=580237)	BC017910(dist=99991),U6(dist=1961185)	ENSG00000265600(dist=83237),ENSG00000226392(dist=187815)	Na	Na	Na	Na	Na	Na	Het;G>A	534;37|17	Hom;G>A	1407;0|33
N	N	-	7	66905079	66905079	C	A	snp	intergenic	 	 	 	 	ENSG00000265600																		rs6963816	0.645567	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01372(dist=100067),LOC102723427(dist=580161)	BC017910(dist=100067),U6(dist=1961109)	ENSG00000265600(dist=83313),ENSG00000226392(dist=187739)	Na	Na	Na	Na	Na	Na	Het;C>A	293;18|16	Hom;C>A	1067;0|42
N	N	-	7	67205029	67205029	C	T	snp	intergenic	 	 	 	 	AC005482.1																		rs57789091	0.271166	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01372(dist=400017),LOC102723427(dist=280211)	BC017910(dist=400017),U6(dist=1661159)	ENSG00000233423(dist=43013),ENSG00000223948(dist=29587)	Na	Na	Na	Na	Na	Na	Het;C>T	396;24|23	Hom;C>T	1445;0|56
N	N	-	7	67305017	67305017	A	AG	indel	intergenic	 	 	 	 	AC092648.1																		rs34767173	0.675919	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01372(dist=500005),LOC102723427(dist=180223)	BC017910(dist=500005),U6(dist=1561171)	ENSG00000223948(dist=69562),ENSG00000225209(dist=180223)	Na	Na	Na	Na	Na	Na	Het;+G	2869;127|96	Hom;+G	7517;0|201
N	N	-	7	67305177	67305177	A	G	snp	intergenic	 	 	 	 	AC092648.1																		rs12673877	0.69988	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01372(dist=500165),LOC102723427(dist=180063)	BC017910(dist=500165),U6(dist=1561011)	ENSG00000223948(dist=69722),ENSG00000225209(dist=180063)	Na	Na	Na	Na	Na	Na	Het;A>G	342;14|12	Hom;A>G	624;0|18
N	N	-	7	68397196	68397196	G	A	snp	intergenic	 	 	 	 	RNA5SP231																		rs62458527	0.299121	0	0	1	0	0	intergenic	intergenic	intergenic	LOC102723427(dist=899519),LOC100507468(dist=663928)	BC017910(dist=1592184),U6(dist=468992)	ENSG00000222428(dist=208161),ENSG00000233689(dist=107943)	Na	Na	Na	Na	Na	Na	Het;G>A	457;17|23	Hom;G>A	351;0|15
N	N	-	7	69950736	69950736	G	A	snp	intronic	 	 	 	 	AUTS2	Auts2	ENSG00000158321	AUTS2, activator of transcription and developmental regulator	chr7:69063905-70258054	This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]	ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol	Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AUTS2		https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607270	http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2	rs13246400	0.191294	0	0	1	0	0	intronic	intronic	intronic	AUTS2	AUTS2	ENSG00000158321	Na	Na	Na	Na	Na	Na	Het;G>A	78;8|6	Hom;G>A	460;0|15
N	N	-	7	70250125	70250125	T	C	snp	intronic	 	 	 	 	AUTS2	Auts2	ENSG00000158321	AUTS2, activator of transcription and developmental regulator	chr7:69063905-70258054	This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]	ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol	Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AUTS2		https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607270	http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2	rs2293503	0.516374	0	0	1	0	0	intronic	intronic	intronic	AUTS2	AUTS2	ENSG00000158321	Na	Na	Na	Na	Na	Na	Het;T>C	138;5|5	Hom;T>C	141;0|4
N	N	-	7	70252185	70252185	A	G	snp	intronic	 	 	 	 	AUTS2	Auts2	ENSG00000158321	AUTS2, activator of transcription and developmental regulator	chr7:69063905-70258054	This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]	ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol	Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AUTS2		https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607270	http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2	rs2293500	0.691294	0.7955	0.7661	1	0	0	intronic	intronic	intronic	AUTS2	AUTS2	ENSG00000158321	Na	Na	Na	Na	Na	Na	Het;A>G	897;45|45	Hom;A>G	2744;0|100
N	N	-	7	70254674	70254674	G	T	snp	intronic	 	 	 	 	AUTS2	Auts2	ENSG00000158321	AUTS2, activator of transcription and developmental regulator	chr7:69063905-70258054	This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]	ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol	Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/AUTS2		https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607270	http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2	rs941346	0.563498	0	0	1	0	0	intronic	intronic	intronic	AUTS2	AUTS2	ENSG00000158321	Na	Na	Na	Na	Na	Na	Het;G>T	281;11|14	Hom;G>T	876;0|32
N	N	-	7	70353579	70353579	T	C	snp	intergenic	 	 	 	 	AC073873.1																		rs4313054	0.515575	0	0	1	0	0	intergenic	intergenic	intergenic	AUTS2(dist=95525),WBSCR17(dist=243944)	AUTS2(dist=95694),WBSCR17(dist=243944)	ENSG00000236978(dist=50580),ENSG00000185274(dist=243576)	Na	Na	Na	Na	Na	Na	Het;T>C	32;2|2	Hom;T>C	112;0|4
N	N	-	7	70455966	70455978	TTGTGTGGGGGTG	T	indel	intergenic	 	 	 	 	AC073873.1																		rs144974526	0	0	0	1	0	0	intergenic	intergenic	intergenic	AUTS2(dist=197912),WBSCR17(dist=141545)	AUTS2(dist=198081),WBSCR17(dist=141545)	ENSG00000236978(dist=152967),ENSG00000185274(dist=141177)	Na	Na	Na	Na	Na	Na	Het;-TGTGTGGGGGTG	506;8|14	Hom;-TGTGTGGGGGTG	441;0|12
N	N	-	7	7116284	7116284	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100131257																		rs10268821	0.427117	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	LOC100131257	LOC100131257(uc021zzk.1:c.*19579G>A)	ENSG00000266121(dist=7749),ENSG00000239696(dist=1642)	Na	Na	Na	Na	Na	Na	Het;C>T	31;2|2	Hom;C>T	113;0|4
N	N	-	7	7116303	7116304	AC	A	indel	ncRNA_exonic	 	 	 	 	LOC100131257																		rs66510903	0.429313	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	LOC100131257	LOC100131257(uc021zzk.1:c.*19560_*19559delinsT)	ENSG00000266121(dist=7768),ENSG00000239696(dist=1622)	Na	Na	Na	Na	Na	Na	Het;-C	83;2|3	Hom;-C	278;0|7
N	N	-	7	7116309	7116309	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100131257																		rs10268838	0.429712	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	LOC100131257	LOC100131257(uc021zzk.1:c.*19554G>A)	ENSG00000266121(dist=7774),ENSG00000239696(dist=1617)	Na	Na	Na	Na	Na	Na	Het;C>T	202;1|7	Hom;C>T	287;0|7
N	N	-	7	7135210	7135218	CTTTTTTTT	C	indel	ncRNA_exonic	 	 	 	 	LOC100131257																		rs202050074	0.896166	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	LOC100131257	LOC100131257(uc021zzk.1:c.*653_*645delinsG)	ENSG00000239696(dist=15837),ENSG00000201218(dist=6986)	Na	Na	Na	Na	Na	Na	Het;-TTTTTTTT	635;7|15	Hom;-TTTTTTTT	1243;0|33
N	N	-	7	7135518	7135518	G	C	snp	ncRNA_exonic	 	 	 	 	LOC100131257																		rs6951453	0.66274	0	0	1	0	0	ncRNA_exonic	UTR3	intergenic	LOC100131257	LOC100131257(uc021zzk.1:c.*345C>G)	ENSG00000239696(dist=16145),ENSG00000201218(dist=6686)	Na	Na	Na	Na	Na	Na	Het;G>C	1335;55|35	Hom;G>C	3847;0|106
N	N	-	7	7136077	7136077	C	A	snp	nonsynonymous SNV	G215T	R72L	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	LOC100131257																		rs17163287	0.664137	0	0.6999	1	0	0	ncRNA_exonic	exonic	intergenic	LOC100131257	LOC100131257	ENSG00000239696(dist=16704),ENSG00000201218(dist=6127)	Na	nonsynonymous SNV	Na	Na	LOC100131257:uc021zzk.1:exon1:c.G215T:p.R72L,	Na	Het;C>A	1649;79|72	Hom;C>A	6951;1|162
N	N	-	7	73969541	73969541	A	G	snp	nonsynonymous SNV	A2050G	M684V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	GTF2IRD1	Gtf2ird1	ENSG00000006704	GTF2I repeat domain containing 1	chr7:73868120-74016931	The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]	Celiac Disease|	Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have  behavioral defects and exhibit a mild craniofacial defect withvariable penetrance.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0014886;transition between slow and fast fiber;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GTF2IRD1	https://www.uniprot.org/uniprot/Q9UHL9	https://hpo.jax.org/app/browse/search?q=GTF2IRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604318	http://www.informatics.jax.org/searchtool/Search.do?query=GTF2IRD1&submit=Quick%0D%416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2IRD1	rs2301895	0.414537	0.3729	0.3078	0.08	1	13	exonic	exonic	exonic	GTF2IRD1	GTF2IRD1	ENSG00000006704	nonsynonymous SNV	nonsynonymous SNV	unknown	GTF2IRD1:NM_001199207:exon18:c.A2050G:p.M684V,GTF2IRD1:NM_005685:exon18:c.A1954G:p.M652V,GTF2IRD1:NM_016328:exon18:c.A1954G:p.M652V,	GTF2IRD1:uc003uaq.3:exon18:c.A1954G:p.M652V,GTF2IRD1:uc003uap.3:exon18:c.A1954G:p.M652V,GTF2IRD1:uc010lbq.3:exon18:c.A2050G:p.M684V,GTF2IRD1:uc003uar.1:exon18:c.A1954G:p.M652V,	UNKNOWN	Het;A>G	1101;74|56	Hom;A>G	2661;0|98
N	N	-	7	73973438	73973439	GA	G	indel	intronic	 	 	 	 	GTF2IRD1	Gtf2ird1	ENSG00000006704	GTF2I repeat domain containing 1	chr7:73868120-74016931	The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]	Celiac Disease|	Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have  behavioral defects and exhibit a mild craniofacial defect withvariable penetrance.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0014886;transition between slow and fast fiber;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GTF2IRD1	https://www.uniprot.org/uniprot/Q9UHL9	https://hpo.jax.org/app/browse/search?q=GTF2IRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604318	http://www.informatics.jax.org/searchtool/Search.do?query=GTF2IRD1&submit=Quick%0D%416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2IRD1	rs141132786	0.0385383	0	0	1	0	0	intronic	intronic	intronic	GTF2IRD1	GTF2IRD1	ENSG00000006704	Na	Na	Na	Na	Na	Na	Het;-A	559;21|20	Hom;-A	482;1|16
N	N	-	7	74105196	74105196	C	T	snp	ncRNA_intronic	 	 	 	 	LOC101926943																		rs35203738	0.152356	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101926943	GTF2I	ENSG00000232729	Na	Na	Na	Na	Na	Na	Het;C>T	350;25|19	Hom;C>T	839;0|29
N	N	-	7	74114847	74114847	T	C	snp	ncRNA_intronic	 	 	 	 	BC070376																		rs2301907	0.161142	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101926943	BC070376	ENSG00000160828,ENSG00000232729	Na	Na	Na	Na	Na	Na	Het;T>C	1093;22|42	Hom;T>C	1532;0|48
N	N	-	7	74191707	74191707	C	T	snp	ncRNA_intronic	 	 	 	 	ENSG00000160828																		rs145170670	0	0	0.1864	1	0	0	intronic	intronic	ncRNA_intronic	NCF1	NCF1	ENSG00000160828	Na	Na	Na	Na	Na	Na	Het;C>T	897;34|40	Hom;C>T	1159;0|44
N	N	-	7	74193668	74193668	G	A	snp	nonsynonymous SNV	G295A	G99S	aliphatic,neutral	polar,hydrophilic,neutral	NCF1	Ncf1	ENSG00000158517	neutrophil cytosolic factor 1	chr7:74188309-74203659	The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]	sarcoidosis tuberculosis; Malaria, Falciparum|Multiple Sclerosis; Granulomatous Disease, Chronic; Stroke; Cerebral Infarction	Homozygous disruption of this gene causes severe spontaneous infections and granulomatous inflammation and may alter synaptic plasticity and memory, RAS activation, blood pressure control, airway smooth muscle function, neointima formation, vasoconstriction and the response to myocardial infarction.	RHO GTPases Activate NADPH Oxidases	GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006612;protein targeting to membrane;IDA|GO:0006801;superoxide metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006968;cellular defense response;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0034599;cellular response to oxidative stress;TAS|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0042554;superoxide anion generation;TAS|GO:0045087;innate immune response;TAS|GO:0045454;cell redox homeostasis;TAS|GO:0045730;respiratory burst;TAS|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071276;cellular response to cadmium ion;IDA|GO:0071800;podosome assembly;IBA|GO:1900745;positive regulation of p38MAPK cascade;IMP	GO:0002102;podosome;IBA|GO:0005737;cytoplasm;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0030425;dendrite;IEA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;TAS|GO:0043025;neuronal cell body;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0009055;electron carrier activity;TAS|GO:0016175;superoxide-generating NADPH oxidase activity;IMP|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0017124;SH3 domain binding;IPI|GO:0035091;phosphatidylinositol binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NCF1		https://hpo.jax.org/app/browse/search?q=NCF1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608512	http://www.informatics.jax.org/searchtool/Search.do?query=NCF1&submit=Quick%0D%10219ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF1	rs10614	0.63119	0	0.4984	1	0	0	exonic	exonic	exonic	NCF1	NCF1	ENSG00000158517	nonsynonymous SNV	nonsynonymous SNV	unknown	NCF1:NM_000265:exon4:c.G295A:p.G99S,	NCF1:uc010lbs.1:exon4:c.G295A:p.G99S,NCF1:uc003ubb.3:exon4:c.G295A:p.G99S,	UNKNOWN	Het;G>A	4483;33|184	Hom;G>A	6216;26|255
N	N	-	7	76131645	76131645	A	G	snp	nonsynonymous SNV	A1261G	T421A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	DTX2	Dtx2	ENSG00000282379	deltex E3 ubiquitin ligase 2	chr7:76090993-76135312	DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]		Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development.				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DTX2			https://www.ncbi.nlm.nih.gov/omim/?term=613141	http://www.informatics.jax.org/searchtool/Search.do?query=DTX2&submit=Quick%0D%22493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTX2	rs6979487	0.816094	0	0.7506	0.15	2	13	exonic	exonic	exonic	DTX2	DTX2	ENSG00000091073	nonsynonymous SNV	nonsynonymous SNV	unknown	DTX2:NM_020892:exon9:c.A1261G:p.T421A,DTX2:NM_001102595:exon7:c.A1261G:p.T421A,DTX2:NM_001102594:exon8:c.A1261G:p.T421A,DTX2:NM_001102596:exon5:c.A1120G:p.T374A,	DTX2:uc003uff.4:exon9:c.A1261G:p.T421A,DTX2:uc011kgk.1:exon7:c.A988G:p.T330A,DTX2:uc003ufh.4:exon7:c.A1261G:p.T421A,DTX2:uc003ufg.4:exon8:c.A1261G:p.T421A,DTX2:uc003ufm.4:exon2:c.A400G:p.T134A,DTX2:uc003ufj.4:exon5:c.A1120G:p.T374A,DTX2:uc003ufl.1:exon3:c.A247G:p.T83A,DTX2:uc003ufn.4:exon1:c.A16G:p.T6A,DTX2:uc003ufk.4:exon3:c.A154G:p.T52A,	UNKNOWN	Het;A>G	2697;119|130	Hom;A>G	5452;2|158
N	N	-	7	76131695	76131695	A	G	snp	synonymous SNV	A1311G	L437L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DTX2	Dtx2	ENSG00000282379	deltex E3 ubiquitin ligase 2	chr7:76090993-76135312	DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]		Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development.				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DTX2			https://www.ncbi.nlm.nih.gov/omim/?term=613141	http://www.informatics.jax.org/searchtool/Search.do?query=DTX2&submit=Quick%0D%22493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTX2	rs4728775	0.686102	0.6123	0.6711	1	0	0	exonic	exonic	exonic	DTX2	DTX2	ENSG00000091073	synonymous SNV	synonymous SNV	unknown	DTX2:NM_020892:exon9:c.A1311G:p.L437L,DTX2:NM_001102595:exon7:c.A1311G:p.L437L,DTX2:NM_001102594:exon8:c.A1311G:p.L437L,DTX2:NM_001102596:exon5:c.A1170G:p.L390L,	DTX2:uc003uff.4:exon9:c.A1311G:p.L437L,DTX2:uc011kgk.1:exon7:c.A1038G:p.L346L,DTX2:uc003ufh.4:exon7:c.A1311G:p.L437L,DTX2:uc003ufg.4:exon8:c.A1311G:p.L437L,DTX2:uc003ufm.4:exon2:c.A450G:p.L150L,DTX2:uc003ufj.4:exon5:c.A1170G:p.L390L,DTX2:uc003ufl.1:exon3:c.A297G:p.L99L,DTX2:uc003ufn.4:exon1:c.A66G:p.L22L,DTX2:uc003ufk.4:exon3:c.A204G:p.L68L,	UNKNOWN	Het;A>G	3017;135|141	Hom;A>G	5837;0|217
N	N	-	7	76132962	76132962	A	G	snp	intronic	 	 	 	 	DTX2	Dtx2	ENSG00000282379	deltex E3 ubiquitin ligase 2	chr7:76090993-76135312	DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]		Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development.				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DTX2			https://www.ncbi.nlm.nih.gov/omim/?term=613141	http://www.informatics.jax.org/searchtool/Search.do?query=DTX2&submit=Quick%0D%22493ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DTX2	rs2690526	0.564297	0	0	1	0	0	intronic	intronic	intronic	DTX2	DTX2	ENSG00000091073	Na	Na	Na	Na	Na	Na	Het;A>G	571;18|27	Hom;A>G	843;2|33
N	N	-	7	7645806	7645806	A	G	snp	intronic	 	 	 	 	MIOS	Mios	ENSG00000164654	meiosis regulator for oocyte development	chr7:7606503-7648560			 		GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP	GO:0005765;lysosomal membrane;IDA|GO:0061700;GATOR2 complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MIOS			https://www.ncbi.nlm.nih.gov/omim/?term=615359	http://www.informatics.jax.org/searchtool/Search.do?query=MIOS&submit=Quick%0D%11356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MIOS	rs2286209	0.619609	0	0	1	0	0	intronic	intronic	intronic	MIOS	MIOS	ENSG00000164654	Na	Na	Na	Na	Na	Na	Het;A>G	228;17|9	Hom;A>G	863;0|28
N	N	-	7	76751252	76751252	C	G	snp	ncRNA_exonic	 	 	 	 	FAM185BP																		rs3864642	0.391773	0	0	1	0	0	upstream	upstream	ncRNA_exonic	CCDC146	CCDC146	ENSG00000214439	Na	Na	Na	Na	Na	Na	Het;C>G	784;38|35	Hom;C>G	2590;0|86
N	N	-	7	76751543	76751543	G	A	snp	upstream	 	 	 	 	CCDC146	Ccdc146	ENSG00000135205	coiled-coil domain containing 146	chr7:76751751-76958850		Tobacco Use Disorder; Tissue Plasminogen Activator; Hemoglobins	 			GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC146	https://www.uniprot.org/uniprot/Q8IYE0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC146&submit=Quick%0D%7100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC146	rs4412304	0.392173	0	0	1	0	0	upstream	upstream	ncRNA_intronic	CCDC146	CCDC146	ENSG00000259628	Na	Na	Na	Na	Na	Na	Het;G>A	1185;39|58	Hom;G>A	1849;1|70
N	N	-	7	76751658	76751658	C	A	snp	upstream	 	 	 	 	CCDC146	Ccdc146	ENSG00000135205	coiled-coil domain containing 146	chr7:76751751-76958850		Tobacco Use Disorder; Tissue Plasminogen Activator; Hemoglobins	 			GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC146	https://www.uniprot.org/uniprot/Q8IYE0			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC146&submit=Quick%0D%7100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC146	rs6962194	0.308307	0	0	1	0	0	upstream	upstream	ncRNA_intronic	CCDC146	CCDC146	ENSG00000259628	Na	Na	Na	Na	Na	Na	Het;C>A	453;12|19	Hom;C>A	553;0|18
N	N	-	7	77090958	77090958	A	G	snp	ncRNA_exonic	 	 	 	 	GCNT1P5																		rs4729435	0.677716	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LOC101927243(dist=36198),PTPN12(dist=75815)	GSAP(dist=45241),PTPN12(dist=75815)	ENSG00000237620	Na	Na	Na	Na	Na	Na	Het;A>G	46;1|2	Hom;A>G	297;0|9
N	N	-	7	77616400	77616400	G	A	snp	intergenic	 	 	 	 	PHTF2	Phtf2	ENSG00000006576	putative homeodomain transcription factor 2	chr7:77428122-77586818		Insulin; Behcet Syndrome; Hemoglobins; Cholesterol; Hematocrit; Lipids; Body Mass Index; Cholesterol, LDL	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IDA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHTF2	https://www.uniprot.org/uniprot/Q8N3S3		https://www.ncbi.nlm.nih.gov/omim/?term=616785	http://www.informatics.jax.org/searchtool/Search.do?query=PHTF2&submit=Quick%0D%406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHTF2	rs13244959	0.352636	0	0	1	0	0	intergenic	intergenic	intergenic	PHTF2(dist=29579),MAGI2(dist=29974)	PHTF2(dist=29579),AK124308(dist=3334)	ENSG00000006576(dist=29582),ENSG00000232756(dist=3301)	Na	Na	Na	Na	Na	Na	Het;G>A	158;7|9	Hom;G>A	272;0|11
N	N	-	7	78119199	78119199	A	C	snp	intronic	 	 	 	 	MAGI2	Magi2	ENSG00000187391	membrane associated guanylate kinase, WW and PDZ domain containing 2	chr7:77646393-79082890	The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]	Aorta; Antidepressive Agents; Blood Pressure Determination; several psychiatric disorders; Dehydroepiandrosterone; Hippocampus; hippocampal atrophy; Celiac Disease|Colitis, Ulcerative; Tobacco Use Disorder; Celiac Disease|Down Syndrome; Body Height; Echocardiography; Body Weight Changes; Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease ; Triglycerides; Apolipoproteins C; Arteries; Hip; Magnesium; Celiac Disease|; Cholesterol, LDL; Platelet Aggregation	Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure.	Nephrin family interactions	GO:0002092;positive regulation of receptor internalization;IDA|GO:0003402;planar cell polarity pathway involved in axis elongation;NAS|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010976;positive regulation of neuron projection development;ISS|GO:0016310;phosphorylation;IEA|GO:0030336;negative regulation of cell migration;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0032926;negative regulation of activin receptor signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;ISS|GO:0043113;receptor clustering;ISS|GO:0051291;protein heterooligomerization;ISS|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0060395;SMAD protein signal transduction;IEA|GO:0071850;mitotic cell cycle arrest;ISS|GO:0072015;glomerular visceral epithelial cell development;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2000809;positive regulation of synaptic vesicle clustering;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0036057;slit diaphragm;ISS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IDA|GO:0031697;beta-1 adrenergic receptor binding;IPI|GO:0032947;protein complex scaffold;IEA|GO:0046332;SMAD binding;IEA|GO:0070699;type II activin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAGI2		https://hpo.jax.org/app/browse/search?q=MAGI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606382	http://www.informatics.jax.org/searchtool/Search.do?query=MAGI2&submit=Quick%0D%15820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI2	rs1990577	0.617212	0.5322	0.5916	1	0	0	intronic	intronic	intronic	MAGI2	MAGI2	ENSG00000187391	Na	Na	Na	Na	Na	Na	Het;A>C	450;33|25	Hom;A>C	854;0|32
N	N	-	7	78256643	78256643	G	T	snp	intronic	 	 	 	 	MAGI2	Magi2	ENSG00000187391	membrane associated guanylate kinase, WW and PDZ domain containing 2	chr7:77646393-79082890	The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]	Aorta; Antidepressive Agents; Blood Pressure Determination; several psychiatric disorders; Dehydroepiandrosterone; Hippocampus; hippocampal atrophy; Celiac Disease|Colitis, Ulcerative; Tobacco Use Disorder; Celiac Disease|Down Syndrome; Body Height; Echocardiography; Body Weight Changes; Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease ; Triglycerides; Apolipoproteins C; Arteries; Hip; Magnesium; Celiac Disease|; Cholesterol, LDL; Platelet Aggregation	Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure.	Nephrin family interactions	GO:0002092;positive regulation of receptor internalization;IDA|GO:0003402;planar cell polarity pathway involved in axis elongation;NAS|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010976;positive regulation of neuron projection development;ISS|GO:0016310;phosphorylation;IEA|GO:0030336;negative regulation of cell migration;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0032926;negative regulation of activin receptor signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;ISS|GO:0043113;receptor clustering;ISS|GO:0051291;protein heterooligomerization;ISS|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0060395;SMAD protein signal transduction;IEA|GO:0071850;mitotic cell cycle arrest;ISS|GO:0072015;glomerular visceral epithelial cell development;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2000809;positive regulation of synaptic vesicle clustering;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0036057;slit diaphragm;ISS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IDA|GO:0031697;beta-1 adrenergic receptor binding;IPI|GO:0032947;protein complex scaffold;IEA|GO:0046332;SMAD binding;IEA|GO:0070699;type II activin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAGI2		https://hpo.jax.org/app/browse/search?q=MAGI2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606382	http://www.informatics.jax.org/searchtool/Search.do?query=MAGI2&submit=Quick%0D%15820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI2	rs38117	0.558706	0	0	1	0	0	intronic	intronic	intronic	MAGI2	MAGI2	ENSG00000187391	Na	Na	Na	Na	Na	Na	Het;G>T	217;4|10	Hom;G>T	350;1|13
N	N	-	7	7995444	7995444	A	C	snp	ncRNA_intronic	 	 	 	 	LOC100505921																		rs12540607	0.791134	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC100505921	LOC729852(dist=76593),GLCCI1(dist=12930)	ENSG00000234141(dist=5104),ENSG00000233108(dist=2370)	Na	Na	Na	Na	Na	Na	Het;A>C	478;12|21	Hom;A>C	946;0|32
N	N	-	7	80231504	80231504	G	C	snp	UTR5	-54460G>C	 	 	 	CD36	Cd36	ENSG00000135218	CD36 molecule	chr7:79998891-80308593	The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]	diabetes, type 2 insulin; atherosclerosis; malaria; Angina pectoris|Myocardial Infarction; malaria, plasmodium falciparum; Chronic renal failure|Kidney Failure, Chronic; Malaria infection; variable age at onset disease; Hypertension; body mass; cholesterol; cholesterol, HDL; triglycerides; blood pressure; insulin resistance; Type 2 diabetes; colorectal cancer; osteoarthritis; Macular Degeneration; Malaria, Falciparum; cerebral malaria; hypertension; atherosclerosis, coronary; diabetes, type 2; Kidney Failure, Chronic; left ventricular mass; Platelet Count; Anemia|Malaria, Falciparum; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; Obesity; Metabolic Syndrome X; Coronary Artery Disease|Hypertension; Malaria; Type 2 Diabetes| edema | rosiglitazone; obesity; null; diabetes, type 2; liver disease	Homozygous mutant mice exhibit an immunodeficiency phenotype, are susceptible to S. aureus infection and develop ocular pterygium. Mice homozygous for disruptions in this gene display abnormal lipid homeostasis which affects energy utilization in the heart.	Neutrophil degranulation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0002221;pattern recognition receptor signaling pathway;IEA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0002576;platelet degranulation;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0006629;lipid metabolic process;NAS|GO:0006810;transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006910;phagocytosis, recognition;IEA|GO:0006955;immune response;IEA|GO:0007155;cell adhesion;TAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;ISS|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007596;blood coagulation;TAS|GO:0010629;negative regulation of gene expression;IEA|GO:0010744;positive regulation of macrophage derived foam cell differentiation;IMP|GO:0010886;positive regulation of cholesterol storage;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019915;lipid storage;IMP|GO:0019934;cGMP-mediated signaling;IDA|GO:0030194;positive regulation of blood coagulation;IEA|GO:0030299;intestinal cholesterol absorption;ISS|GO:0030301;cholesterol transport;ISS|GO:0031623;receptor internalization;ISS|GO:0032735;positive regulation of interleukin-12 production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0033993;response to lipid;ISS|GO:0034197;triglyceride transport;ISS|GO:0034381;plasma lipoprotein particle clearance;ISS|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0035634;response to stilbenoid;IEA|GO:0038124;toll-like receptor TLR6:TLR2 signaling pathway;TAS|GO:0042953;lipoprotein transport;IMP|GO:0042992;negative regulation of transcription factor import into nucleus;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0044539;long-chain fatty acid import;IDA|GO:0050702;interleukin-1 beta secretion;ISS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0050892;intestinal absorption;ISS|GO:0050909;sensory perception of taste;ISS|GO:0055096;low-density lipoprotein particle mediated signaling;IEA|GO:0060100;positive regulation of phagocytosis, engulfment;IEA|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0070508;cholesterol import;ISS|GO:0070542;response to fatty acid;ISS|GO:0070543;response to linoleic acid;ISS|GO:0071221;cellular response to bacterial lipopeptide;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071223;cellular response to lipoteichoic acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;ISS|GO:0071447;cellular response to hydroperoxide;IEA|GO:0071726;cellular response to diacyl bacterial lipopeptide;IDA|GO:1900227;positive regulation of NLRP3 inflammasome complex assembly;ISS|GO:1990000;amyloid fibril formation;ISS|GO:2000121;regulation of removal of superoxide radicals;IEA|GO:2000334;positive regulation of blood microparticle formation;IEA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IEA|GO:2000505;regulation of energy homeostasis;ISS	GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0031092;platelet alpha granule membrane;TAS|GO:0031526;brush border membrane;ISS|GO:0035579;specific granule membrane;TAS|GO:0045121;membrane raft;IDA|GO:0045177;apical part of cell;IEA|GO:0045335;phagocytic vesicle;TAS	GO:0005041;low-density lipoprotein receptor activity;IMP|GO:0005515;protein binding;IPI|GO:0008035;high-density lipoprotein particle binding;IEA|GO:0008289;lipid binding;IDA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0050431;transforming growth factor beta binding;ISS|GO:0070053;thrombospondin receptor activity;ISS|GO:0070892;lipoteichoic acid receptor activity;IEA|GO:0071813;lipoprotein particle binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CD36	https://www.uniprot.org/uniprot/P16671	https://hpo.jax.org/app/browse/search?q=CD36&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=173510	http://www.informatics.jax.org/searchtool/Search.do?query=CD36&submit=Quick%0D%7102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD36	rs1194182	0.633387	0	0	1	0	0	UTR5	UTR5	UTR5	CD36(NM_001001547:c.-44553G>C)	CD36(uc011kgv.2:c.-54460G>C,uc003uhd.4:c.-44553G>C)	ENSG00000135218(ENST00000309881:c.-44553G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	210;13|8	Hom;G>C	1063;0|36
N	N	-	7	82322802	82322802	T	A	snp	intergenic	 	 	 	 	AC004006.1																		rs13226600	0.0836661	0	0	1	0	0	intergenic	intergenic	intergenic	CACNA2D1(dist=249680),PCLO(dist=60519)	CACNA2D1(dist=249771),PCLO(dist=60519)	ENSG00000228711(dist=36075),ENSG00000186472(dist=60527)	Na	Na	Na	Na	Na	Na	Het;T>A	155;5|7	Hom;T>A	351;1|12
N	N	-	7	82508938	82508938	T	C	snp	intronic	 	 	 	 	PCLO	Pclo	ENSG00000186472	piccolo presynaptic cytomatrix protein	chr7:82383329-82792246	The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	major depressive disorder; null; diabetes, type 2; Depressive Disorder, Major; Alcoholism; Blood Coagulation Factors; Tobacco Use Disorder; Narcolepsy	Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.		GO:0007010;cytoskeleton organization;IEA|GO:0007416;synapse assembly;IEA|GO:0016079;synaptic vesicle exocytosis;NAS|GO:0017157;regulation of exocytosis;IEA|GO:0019933;cAMP-mediated signaling;IEA|GO:0030073;insulin secretion;IEA|GO:0035418;protein localization to synapse;IEA|GO:0099526;presynapse to nucleus signaling pathway;IEA	GO:0005856;cytoskeleton;NAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;IEA|GO:0048788;cytoskeleton of presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA|GO:0098831;presynaptic active zone cytoplasmic component;IEA	GO:0005509;calcium ion binding;ISS|GO:0005522;profilin binding;IEA|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCLO		https://hpo.jax.org/app/browse/search?q=PCLO&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604918	http://www.informatics.jax.org/searchtool/Search.do?query=PCLO&submit=Quick%0D%15652ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCLO	rs2371366	0.789137	0	0	1	0	0	intronic	intronic	intronic	PCLO	PCLO	ENSG00000186472	Na	Na	Na	Na	Na	Na	Het;T>C	93;4|4	Hom;T>C	78;0|3
N	N	-	7	83021799	83021802	TAAA	T	indel	intronic	 	 	 	 	SEMA3E	Sema3e	ENSG00000170381	semaphorin 3E	chr7:82993222-83278326	Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]	Cholesterol, HDL; Tobacco Use Disorder; Vitamin K; Atrial Fibrillation; Echocardiography	Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc.	Other semaphorin interactions	GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001953;negative regulation of cell-matrix adhesion;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016525;negative regulation of angiogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0050808;synapse organization;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS	GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SEMA3E		https://hpo.jax.org/app/browse/search?q=SEMA3E&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608166	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3E&submit=Quick%0D%12691ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3E	rs201556609	0.475839	0	0	1	0	0	intronic	intronic	intronic	SEMA3E	SEMA3E	ENSG00000170381	Na	Na	Na	Na	Na	Na	Het;-AAA	233;2|8	Hom;-AAA	710;0|20
N	N	-	7	84702569	84702569	T	C	snp	intronic	 	 	 	 	SEMA3D	Sema3d	ENSG00000153993	semaphorin 3D	chr7:84624869-84816171	This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]	Behcet Syndrome; Menopause; Macular Degeneration; schizophrenia	Mice homozygous for a knock-out allele exhibit pulmonary vein connection to the right atrium and atrial septal defect.		GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEMA3D	https://www.uniprot.org/uniprot/O95025	https://hpo.jax.org/app/browse/search?q=SEMA3D&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609907	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3D&submit=Quick%0D%9712ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3D	rs147108788	0.0133786	0	0	1	0	0	intronic	intronic	intronic	SEMA3D	SEMA3D	ENSG00000153993	Na	Na	Na	Na	Na	Na	Het;T>C	34;5|2	Hom;T>C	98;0|3
N	N	-	7	85318618	85318618	A	C	snp	intergenic	 	 	 	 	AC092013.1																		rs12531002	0.36901	0	0	1	0	0	intergenic	intergenic	intergenic	SEMA3D(dist=567371),GRM3(dist=954612)	SEMA3D(dist=502447),GRM3(dist=954612)	ENSG00000227785(dist=52958),ENSG00000236610(dist=527483)	Na	Na	Na	Na	Na	Na	Het;A>C	1105;48|54	Hom;A>C	2723;0|98
N	N	-	7	86998842	86998842	G	A	snp	intronic	 	 	 	 	CROT	Crot	ENSG00000005469	carnitine O-octanoyltransferase	chr7:86974997-87029111	This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]	Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder; Neutrophils	 	Beta-oxidation of pristanoyl-CoA	GO:0006091;generation of precursor metabolites and energy;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IDA|GO:0006810;transport;IEA|GO:0009437;carnitine metabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0015936;coenzyme A metabolic process;IEA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0051791;medium-chain fatty acid metabolic process;IDA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005102;receptor binding;IPI|GO:0008458;carnitine O-octanoyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CROT	https://www.uniprot.org/uniprot/Q9UKG9		https://www.ncbi.nlm.nih.gov/omim/?term=606090	http://www.informatics.jax.org/searchtool/Search.do?query=CROT&submit=Quick%0D%365ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CROT	rs6966140	0.642372	0.6572	0.7225	1	0	0	intronic	intronic	intronic	CROT	CROT	ENSG00000005469	Na	Na	Na	Na	Na	Na	Het;G>A	155;23|12	Hom;G>A	1288;0|45
N	N	-	7	87053150	87053150	A	G	snp	intronic	 	 	 	 	ABCB4	Abcb4	ENSG00000005471	ATP binding cassette subfamily B member 4	chr7:87031013-87109751	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate.  The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile.  Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]	Cholestasis, Intrahepatic|Pregnancy Complications|Pruritus; cirrhosis, biliary primary; cholangitis, sclerosing; Type 2 Diabetes| edema | rosiglitazone; Cholestasis|; Chronic renal failure|Kidney Failure, Chronic; cholelithiasis; Cholestasis, Intrahepatic|Fibrosis; Liver Cirrhosis, Biliary; drug-related genes ; Gallstones; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Biliary calculi|Gallstones; Cholestasis, Intrahepatic|Pregnancy Complications; cholestasis; Cystic Fibrosis|Liver Diseases; null; esophageal adenocarcinoma; epilepsy, temporal lobe; plasma HDL cholesterol (HDL-C) levels; cholestasis, drug-induced hepatotoxicity; intrahepatic cholestatis of pregnancy	Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.	ABC-family proteins mediated transport	GO:0001666;response to hypoxia;IEA|GO:0001890;placenta development;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006869;lipid transport;IEA|GO:0007420;brain development;IEA|GO:0007595;lactation;IEA|GO:0007623;circadian rhythm;IEA|GO:0009914;hormone transport;IEA|GO:0010033;response to organic substance;IEA|GO:0010046;response to mycotoxin;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014072;response to isoquinoline alkaloid;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0032355;response to estradiol;IEA|GO:0032376;positive regulation of cholesterol transport;IDA|GO:0032782;bile acid secretion;ISS|GO:0033189;response to vitamin A;IEA|GO:0033231;carbohydrate export;IEA|GO:0033280;response to vitamin D;IEA|GO:0035633;maintenance of permeability of blood-brain barrier;IEA|GO:0036146;cellular response to mycotoxin;IEA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IEA|GO:0043215;daunorubicin transport;IEA|GO:0043278;response to morphine;IEA|GO:0045332;phospholipid translocation;IDA|GO:0046618;drug export;IEA|GO:0046686;response to cadmium ion;IEA|GO:0050892;intestinal absorption;IEA|GO:0055085;transmembrane transport;TAS|GO:0055088;lipid homeostasis;IDA|GO:0060548;negative regulation of cell death;IEA|GO:0060856;establishment of blood-brain barrier;IEA|GO:0061092;positive regulation of phospholipid translocation;IDA|GO:0071217;cellular response to external biotic stimulus;IEA|GO:0071236;cellular response to antibiotic;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071475;cellular hyperosmotic salinity response;IEA|GO:0071548;response to dexamethasone;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097068;response to thyroxine;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:1901557;response to fenofibrate;ISS|GO:1902065;response to L-glutamate;IEA|GO:1903413;cellular response to bile acid;IDA|GO:1903416;response to glycoside;IEA|GO:1905231;cellular response to borneol;IEA|GO:1905232;cellular response to L-glutamate;IEA|GO:1905233;response to codeine;IEA|GO:1905235;response to quercetin;IEA|GO:1905237;response to cyclosporin A;IEA|GO:1990962;drug transport across blood-brain barrier;IEA|GO:1990963;establishment of blood-retinal barrier;IEA|GO:2001025;positive regulation of response to drug;IEA|GO:2001140;positive regulation of phospholipid transport;IDA	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031526;brush border membrane;IEA|GO:0045121;membrane raft;IEA|GO:0045177;apical part of cell;IEA|GO:0046581;intercellular canaliculus;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005548;phospholipid transporter activity;TAS|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0008559;xenobiotic-transporting ATPase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCB4	https://www.uniprot.org/uniprot/P21439	https://hpo.jax.org/app/browse/search?q=ABCB4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=171060	http://www.informatics.jax.org/searchtool/Search.do?query=ABCB4&submit=Quick%0D%366ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB4	rs31667	0.691893	0	0	1	0	0	intronic	intronic	intronic	ABCB4	ABCB4	ENSG00000005471	Na	Na	Na	Na	Na	Na	Het;A>G	222;8|10	Hom;A>G	441;0|14
N	N	-	7	87839528	87839528	A	G	snp	intronic	 	 	 	 	SRI	Sri	ENSG00000075142	sorcin	chr7:87834433-87856308	This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]	Type 2 Diabetes| edema | rosiglitazone; Body Mass Index; Body Composition	Mice homozgyous for a knock-out allele exhibit impaired glucose tolerance and decreased circulating insulin levels.	Ion transport by P-type ATPases	GO:0001508;action potential;TAS|GO:0006508;proteolysis;IBA|GO:0006810;transport;TAS|GO:0006816;calcium ion transport;IEA|GO:0006880;intracellular sequestering of iron ion;TAS|GO:0006942;regulation of striated muscle contraction;TAS|GO:0007165;signal transduction;TAS|GO:0007507;heart development;TAS|GO:0007517;muscle organ development;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010459;negative regulation of heart rate;IMP|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;TAS|GO:0035774;positive regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051924;regulation of calcium ion transport;IMP|GO:0060315;negative regulation of ryanodine-sensitive calcium-release channel activity;IDA|GO:0086004;regulation of cardiac muscle cell contraction;IMP|GO:1901077;regulation of relaxation of muscle;IMP|GO:1901841;regulation of high voltage-gated calcium channel activity;IMP|GO:1901844;regulation of cell communication by electrical coupling involved in cardiac conduction;IMP|GO:2000678;negative regulation of transcription regulatory region DNA binding;IEA	GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016529;sarcoplasmic reticulum;TAS|GO:0030018;Z disc;IDA|GO:0030315;T-tubule;TAS|GO:0030424;axon;IEA|GO:0031982;vesicle;IEA|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0042584;chromaffin granule membrane;IDA|GO:0043679;axon terminus;IEA|GO:0044326;dendritic spine neck;IEA|GO:0070062;extracellular exosome;IDA	GO:0002020;protease binding;IPI|GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IBA|GO:0005102;receptor binding;TAS|GO:0005246;calcium channel regulator activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0044325;ion channel binding;TAS|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070491;repressing transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SRI	https://www.uniprot.org/uniprot/P30626		https://www.ncbi.nlm.nih.gov/omim/?term=182520	http://www.informatics.jax.org/searchtool/Search.do?query=SRI&submit=Quick%0D%1527ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SRI	rs4728737	0.0623003	0	0	1	0	0	intronic	intronic	intronic	SRI	SRI	ENSG00000075142	Na	Na	Na	Na	Na	Na	Het;A>G	394;13|17	Hom;A>G	570;1|20
N	N	-	7	87913361	87913361	C	T	snp	nonsynonymous SNV	G224A	G75D	aliphatic,neutral	polar,hydrophilic,charged(-)	STEAP4	Steap4	ENSG00000127954	STEAP4 metalloreductase	chr7:87905744-87936206	The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]	Metabolic Syndrome X; Insulin Resistance|Metabolic Syndrome X	Mice homozygous for a knock-out allele exhibit adipose accumulation, oxidative stress, increased liver weight, lower metabolic rate, hypoactivity, insulin resistance, glucose intolerance, mild hyperglycemia and dyslipidemia.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015677;copper ion import;IEA|GO:0045444;fat cell differentiation;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098706;ferric iron import across plasma membrane;IEA	GO:0000139;Golgi membrane;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0008823;cupric reductase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0052851;ferric-chelate reductase (NADPH) activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STEAP4	https://www.uniprot.org/uniprot/Q687X5		https://www.ncbi.nlm.nih.gov/omim/?term=611098	http://www.informatics.jax.org/searchtool/Search.do?query=STEAP4&submit=Quick%0D%6086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STEAP4	rs1981529	0.851238	0.8063	0.7779	0.15	2	13	exonic	exonic	exonic	STEAP4	STEAP4	ENSG00000127954	nonsynonymous SNV	nonsynonymous SNV	unknown	STEAP4:NM_001205315:exon3:c.G224A:p.G75D,STEAP4:NM_001205316:exon2:c.G224A:p.G75D,STEAP4:NM_024636:exon2:c.G224A:p.G75D,	STEAP4:uc010lek.3:exon2:c.G224A:p.G75D,STEAP4:uc022agz.1:exon3:c.G224A:p.G75D,STEAP4:uc003ujs.3:exon2:c.G224A:p.G75D,	UNKNOWN	Het;C>T	1132;57|53	Hom;C>T	2912;0|103
N	N	-	7	89016344	89016344	T	C	snp	intergenic	 	 	 	 	ZNF804B	Zfp804b	ENSG00000182348	zinc finger protein 804B	chr7:88388682-88966346		gamma-Glutamylcyclotransferase; Stroke; Vitamin D; Anorexia Nervosa; Tobacco Use Disorder; Hypothyroidism; Cholesterol; Cholesterol, LDL; Body Mass Index	 	Generic Transcription Pathway			GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF804B				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804B&submit=Quick%0D%14778ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804B	rs801899	0.63738	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF804B(dist=49973),STEAP2-AS1(dist=495323)	ZNF804B(dist=49998),DPY19L2P4(dist=732370)	ENSG00000182348(dist=49998),ENSG00000227863(dist=56944)	Na	Na	Na	Na	Na	Na	Het;T>C	188;24|10	Hom;T>C	565;0|22
N	N	-	7	89409167	89409167	A	G	snp	intergenic	 	 	 	 	RNU6-274P																		rs6947709	0.549321	0	0	1	0	0	intergenic	intergenic	intergenic	ZNF804B(dist=442796),STEAP2-AS1(dist=102500)	ZNF804B(dist=442821),DPY19L2P4(dist=339547)	ENSG00000239075(dist=25127),ENSG00000227646(dist=102500)	Na	Na	Na	Na	Na	Na	Het;A>G	51;1|3	Hom;A>G	193;0|6
N	N	-	7	89751752	89751755	CTTT	C	indel	ncRNA_intronic	 	 	 	 	DPY19L2P4																		rs375479302	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	DPY19L2P4,STEAP2-AS1	DPY19L2P4	ENSG00000227646,ENSG00000235436,ENSG00000238358	Na	Na	Na	Na	Na	Na	Het;-TTT	218;3|7	Hom;-TTT	208;0|8
N	N	-	7	89774485	89774485	A	G	snp	ncRNA_intronic	 	 	 	 	STEAP2-AS1																		rs3928364	0.150359	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	STEAP2-AS1	DPY19L2P4(dist=19571),STEAP1(dist=9204)	ENSG00000227646	Na	Na	Na	Na	Na	Na	Het;A>G	126;19|7	Hom;A>G	506;0|17
N	N	-	7	89840875	89840875	A	G	snp	ncRNA_exonic	 	 	 	 	STEAP2-AS1																		rs194502	0.635783	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	STEAP2-AS1	STEAP2	ENSG00000227646	Na	Na	Na	Na	Na	Na	Het;A>G	774;43|37	Hom;A>G	1629;1|61
N	N	-	7	89897829	89897829	T	C	snp	ncRNA_intronic	 	 	 	 	AC002064.2																		rs17867605	0.403954	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CFAP69	C7orf63	ENSG00000234459	Na	Na	Na	Na	Na	Na	Het;T>C	207;9|8	Hom;T>C	378;0|10
N	N	-	7	89906609	89906609	C	T	snp	synonymous SNV	C141T	N47N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C7orf63	 																	rs3761805	0.403754	0.2367	0.2837	1	0	0	exonic	exonic	exonic	CFAP69	C7orf63	ENSG00000105792	synonymous SNV	synonymous SNV	unknown	CFAP69:NM_001039706:exon11:c.C1116T:p.N372N,CFAP69:NM_001160138:exon11:c.C1062T:p.N354N,	C7orf63:uc003ukg.2:exon9:c.C141T:p.N47N,C7orf63:uc011khj.2:exon11:c.C1062T:p.N354N,C7orf63:uc010lep.3:exon11:c.C1116T:p.N372N,	UNKNOWN	Het;C>T	482;24|25	Hom;C>T	1470;0|56
N	N	-	7	89912301	89912301	G	A	snp	nonsynonymous SNV	G1468A	V490M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CFAP69	Cfap69																	rs1029365	0.884185	0.7953	0.8295	0.15	2	13	exonic	exonic	exonic	CFAP69	C7orf63	ENSG00000105792	nonsynonymous SNV	nonsynonymous SNV	unknown	CFAP69:NM_001039706:exon13:c.G1468A:p.V490M,CFAP69:NM_001160138:exon13:c.G1414A:p.V472M,	C7orf63:uc011khk.2:exon2:c.G154A:p.V52M,C7orf63:uc003ukg.2:exon11:c.G493A:p.V165M,C7orf63:uc011khj.2:exon13:c.G1414A:p.V472M,C7orf63:uc010lep.3:exon13:c.G1468A:p.V490M,	UNKNOWN	Het;G>A	1179;31|50	Hom;G>A	2423;2|92
N	N	-	7	8991277	8991277	G	T	snp	intergenic	 	 	 	 	AC009500.1																		rs13247521	0.169928	0	0	1	0	0	intergenic	intergenic	intergenic	NXPH1(dist=198684),PER4(dist=682623)	NXPH1(dist=198684),RBSG3(dist=145624)	ENSG00000236748(dist=12278),ENSG00000271526(dist=132375)	Na	Na	Na	Na	Na	Na	Het;G>T	120;8|6	Hom;G>T	372;0|15
N	N	-	7	89933957	89933977	GTAGATAGATAGATAGATAGA	G	indel	intronic	 	 	 	 	CFAP69	Cfap69																	rs146962282	0	0	0	1	0	0	intronic	intronic	intronic	CFAP69	C7orf63	ENSG00000105792	Na	Na	Na	Na	Na	Na	Het;-TAGATAGATAGATAGATAGA	567;19|17	Hom;-TAGATAGATAGATAGATAGA	1138;0|27
N	N	-	7	89937210	89937210	A	G	snp	intronic	 	 	 	 	CFAP69	Cfap69																	rs4728881	0.405351	0.2422	0.2913	1	0	0	intronic	intronic	intronic	CFAP69	C7orf63	ENSG00000105792	Na	Na	Na	Na	Na	Na	Het;A>G	307;18|15	Hom;A>G	1038;0|36
N	N	-	7	89969549	89969549	G	A	snp	upstream	 	 	 	 	GTPBP10	Gtpbp10	ENSG00000105793	GTP binding protein 10	chr7:89964537-90020769	Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]		 		GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GTPBP10	https://www.uniprot.org/uniprot/A4D1E9		https://www.ncbi.nlm.nih.gov/omim/?term=610920	http://www.informatics.jax.org/searchtool/Search.do?query=GTPBP10&submit=Quick%0D%3390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTPBP10	rs17863070	0.125599	0	0	1	0	0	ncRNA_intronic	upstream	upstream	LOC101927446	GTPBP10	ENSG00000105793	Na	Na	Na	Na	Na	Na	Het;G>A	62;2|3	Hom;G>A	180;0|6
N	N	-	7	89973355	89973355	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101927446																		rs2106272	0.386382	0	0	1	0	0	ncRNA_exonic	intronic	intronic	LOC101927446	GTPBP10	ENSG00000105793	Na	Na	Na	Na	Na	Na	Het;T>C	1211;73|62	Hom;T>C	3222;0|124
N	N	-	7	89976137	89976140	GTTC	G	indel	intronic	 	 	 	 	GTPBP10	Gtpbp10	ENSG00000105793	GTP binding protein 10	chr7:89964537-90020769	Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]		 		GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GTPBP10	https://www.uniprot.org/uniprot/A4D1E9		https://www.ncbi.nlm.nih.gov/omim/?term=610920	http://www.informatics.jax.org/searchtool/Search.do?query=GTPBP10&submit=Quick%0D%3390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTPBP10	rs368999122	0.379593	0.2298	0.2801	1	0	0	intronic	intronic	intronic	GTPBP10	GTPBP10	ENSG00000105793	Na	Na	Na	Na	Na	Na	Het;-TTC	1160;49|33	Hom;-TTC	2958;0|67
N	N	-	7	89982132	89982132	T	C	snp	synonymous SNV	T36C	Y12Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	GTPBP10	Gtpbp10	ENSG00000105793	GTP binding protein 10	chr7:89964537-90020769	Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]		 		GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GTPBP10	https://www.uniprot.org/uniprot/A4D1E9		https://www.ncbi.nlm.nih.gov/omim/?term=610920	http://www.informatics.jax.org/searchtool/Search.do?query=GTPBP10&submit=Quick%0D%3390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTPBP10	rs6972561	0.273562	0.2454	0.2275	1	0	0	exonic	exonic	exonic	GTPBP10	GTPBP10	ENSG00000105793	synonymous SNV	synonymous SNV	unknown	GTPBP10:NM_033107:exon2:c.T36C:p.Y12Y,GTPBP10:NM_001042717:exon2:c.T36C:p.Y12Y,	GTPBP10:uc003ukm.2:exon2:c.T36C:p.Y12Y,GTPBP10:uc003ukn.2:exon2:c.T36C:p.Y12Y,GTPBP10:uc003uki.1:exon3:c.T87C:p.Y29Y,GTPBP10:uc003ukj.1:exon2:c.T9C:p.Y3Y,	UNKNOWN	Het;T>C	361;28|19	Hom;T>C	1507;0|52
N	N	-	7	89983808	89983808	T	G	snp	nonsynonymous SNV	T264G	C88W	polar,hydrophobic,neutral	aromatic,hydrophobic,neutral	GTPBP10	Gtpbp10	ENSG00000105793	GTP binding protein 10	chr7:89964537-90020769	Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]		 		GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GTPBP10	https://www.uniprot.org/uniprot/A4D1E9		https://www.ncbi.nlm.nih.gov/omim/?term=610920	http://www.informatics.jax.org/searchtool/Search.do?query=GTPBP10&submit=Quick%0D%3390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTPBP10	rs42663	0.80012	0.7731	0.8097	0.46	6	13	exonic	exonic	exonic	GTPBP10	GTPBP10	ENSG00000105793	nonsynonymous SNV	nonsynonymous SNV	unknown	GTPBP10:NM_033107:exon3:c.T264G:p.C88W,	GTPBP10:uc003ukm.2:exon3:c.T264G:p.C88W,GTPBP10:uc003uki.1:exon4:c.T315G:p.C105W,GTPBP10:uc003ukj.1:exon3:c.T237G:p.C79W,	UNKNOWN	Het;T>G	527;70|33	Hom;T>G	2446;0|92
N	N	-	7	94953913	94953913	G	C	snp	UTR5	-126C>G	 	 	 	PON1	Pon1	ENSG00000005421	paraoxonase 1	chr7:94926988-95025673	The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]	stroke; Alzheimer's Disease; cardiovascular; Cardiovascular Diseases|Obesity|Virilism; angina; cholesterol, HDL; C-reactive protein; carotid intima-media thickness; multiple myeloma; cholesterol, HDL; apoAI; Albuminuria|Cardiovascular Diseases|Diabetes Mellitus|Hypertension|Kidney Diseases|Renal Insufficiency; diabetes, type 2; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Brain Ischemia; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; response to TNF antagonist treatment; brain cancer; Coronary Disease|Coronary heart disease|Myocardial Infarction; Autism; dementia; breast cancer; pesticide toxicity; normal variation; hypercholesterolemia; retinopathy, diabetic; nephropathy in other diseases; birth weight gestational age oxidative stress; Coronary Disease|Myocardial Infarction; lipids; myocardial infarction; lipid concentrations; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; DNA Damage|Neoplasms, Glandular and Epithelial|Ovarian Neoplasms; Environmental Illness|; intima media thickness; uremia; Arthritis, Rheumatoid; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; nephropathy, diabetic; coronary artery disease; null; non-Hodgkin's lymphoma; cholesterol, HDL; paraoxonase activity; preterm delivery; glomerulonephritis; diabetes, type 2; nephropathy in other diseases; coronary artery disease; lipoproteins; fluvastatin, clinical events with; treatment with fluvastatin, response to; C-reactive protein cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; myocardial infarct stroke, ischemic; lipid metabolism; Parkinson's disease ; Carotid Artery Diseases|Inflammation|Lupus Erythematosus, Systemic|Lupus Nephritis; cerebral infarct; body mass paraoxonase activity polycystic ovary syndrome; Insulin Resistance|Polycystic Ovary Syndrome; Acute Coronary Syndrome|Myocardial Infarction|Recurrence; hypertension; Multiple Chemical Sensitivity; Type 2 Diabetes| edema | rosiglitazone; cholesterol, HDL; Alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular; kidney transplant complications; lipids; longevity; vascular disease; Alzheimer's disease; Astrocytoma|Brain Neoplasms|Meningeal Neoplasms|meningioma; atherosclerosis; pancreatitis; pancreatitis, alcoholic; pancreatitis, chronic; lipid peroxidation; paraoxonase1 activity; macular degeneration; childhood brain tumors | residential insecticide exposure; Obesity|Vascular Diseases; heart disease, ischemic; glucose response; retinopathy, diabetic; cerebral amyloid angiopathy; coronary heart disease; depression; abdominal aortic aneurysm homocysteine hypertension; coronary artery disease risk; Apoplexy|Constriction, Pathologic|Stroke; Hypoxia-Ischemia, Brain|Stroke; Arthritis, Rheumatoid|Rheumatoid Arthritis; bladder cancer; coronary artery disease.; PON1 expression; diabetes, type 1 ; breast cancer ; Apoplexy|Stroke; esophageal adenocarcinoma; diabetes, type 2; cerebrovascular disease; Coronary Artery Disease|Coronary Stenosis; Multiple Myeloma; Chronic renal failure|Kidney Failure, Chronic; Breath Tests; stroke, ischemic; Myocardial Infarction; fasting total cholesterol and LDL-cholesterol concentrations only; glaucoma, primary open-angle; atherosclerosis, coronary; lipids; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; lymphoma, Non-Hodgkin's; Coronary Disease|Coronary heart disease; childhood brain tumor; left ventricular hypertrophy; cholesterol, HDL; triglycerides; Apoplexy|Brain Ischemia|Coronary Disease|Coronary heart disease|Stroke; Alzheimer's Disease/Coronary artery disease; acetylcholinesterase; paraoxonase; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; myocardial infarction; bone density; lung cancer; carotid artery damage; Atherosclerosis|Carotid Artery Diseases|Diabetes Mellitus, Type 2|; Aortic Aneurysm, Abdominal|; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; diazonase activity; Stroke; hepatitis C, chronic; Brain Ischemia|Cerebral Hemorrhage|Stroke; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; glucose; paraoxonase-1; plasma HDL-C levels; cardiovascular risk; Amyotrophic Lateral Sclerosis|; coronary artery disease; diabetes, type 2; chronic symptoms in pesticide-exposed workers; cerebral amyloid angiopathy.; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Coronary Disease; Myocardial Ischemia; BMI- Edema rosiglitazone or pioglitazone; Body Height; carotid atherosclerosis; DNA damage; Kidney Diseases; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; coronary artery reactivity; lipoprotein oxidation; Cell Adhesion Molecules; HTL hydrolase; bone mineral density (BMD); Infection|Inflammation|Premature Birth; human fertility; lupus erythematosus paraoxonase 1 activity; Coronary Artery Disease|; ill health, sheep dip related; colorectal cancer; Cardiovascular disease; Spinal Dysraphism; multiple sclerosis; cerebrovascular disease; Cardiovascular Diseases; coronary artery spasm; Crohn's disease ulcerative colitis; prostate cancer; carotid intima-media thickness; schizophrenia; Neoplasms; Cleft Lip|Cleft Palate; blood pressure, arterial; Fetal Growth Retardation|Intrauterine growth retardation; Tobacco Use Disorder; Alzheimer's disease; atherosclerosis, coronary; glomerulosclerosis, focal; atherosclerosis, generalized; Alzheimer's disease ; hyperglycemia hypertension, pregnancy induced preterm delivery; Inflammation|Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; organophosphate toxicity; lipid metabolism disorders; cardiovascular disease; coronary endothelial vasomotor dysfunction; preeclampsia; oxidative stress ; Liver Diseases; Coronary Artery Disease|Myocardial Infarction; Coronary Artery Disease; Coronary Artery Disease|Diabetes Mellitus|Hyperlipidemias|Hypertension|Myocardial Infarction; Hypercholesterolemia|LDLC levels; Type 2 diabetes; atherosclerosis, coronary cholesterol, HDL triglycerides; nephropathy in other diseases; paraoxonase; Cholesterol, HDL/blood*; Atherosclerosis|Cardiovascular Diseases|; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; diabetes, type 2; insulin; Arsenic Poisoning|Cardiovascular Diseases; Coronary Disease|Coronary heart disease|Hyperlipidemias; Hypertension; Brain Ischemia|Stroke; insulin resistance; nephropathy, IgA; atherosclerosis, coronary; hypercholesterolemia; Agricultural Workers' Diseases|DNA Damage|Substance-Related Disorders; Carotid Artery Diseases|; Atherosclerosis|Carotid Artery Diseases; Hyperhomocysteinemia; Apoplexy|Brain Ischemia|Stroke; Premature Birth; coronary atherosclerosis; DNA Damage; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Inflammation|Premature Birth; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Alzheimer's disease; vascular dementia; Brain Ischemia|Hypertension|Osteoporosis|Stroke; cholesterol, HDL; lipoproteins; Adrenal Hyperplasia, Congenital|Hyperandrogenism; plasma lipoproteins; restenosis; Coronary Disease|Coronary heart disease|Metabolic Syndrome X; obesity; P-Selectin; retinopathy, diabetic; albumin excretion rate; myocardial infarct; ALS/amyotrophic lateral sclerosis; metabolic syndrome; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; HDL-cholesterol level; multiple chemical sensitivity; paraoxonase activity; Acute Coronary Syndrome|Inflammation; increased serum glucose concentrations; arylesterase activity cholesterol cholesterol, HDL cholesterol, LDL; anxiety disorder; lipoprotein; oxidative stress; cholesterol, HDL; lipoprotein, LDL; cholesterol, LDL; cholesterol, total; Kidney Failure, Chronic; Coronary Artery Disease|Disease Susceptibility; paraoxonase-1 specific activity; diabetes, type 2; lipoprotein; Abortion, Spontaneous|Thrombosis; Parkinson's disease; lipoprotein; lipids; Cardiovascular Diseases|; diabetes, type 1; PON1 activity; more degree of homeostasis model assessment IR; Diabetes Mellitus, Type 2|Mouth Diseases; Glomerulonephritis, IGA; paraoxinase 1 activity; beta-cell function; intima-media thickness; cardiac death; lipoproteins; Amyotrophic Lateral Sclerosis; Macular Degeneration|Vision, Low; pharmacogenetic studies; Coronary Heart Disease; osteonecrosis; ovarian cancer ; Obesity; Agricultural Workers' Diseases; cholesterol, HDL; triglycerides; lipids; hearing loss/deafness; Recurrence|Venous Thromboembolism	Homozygous mutation of this gene results in increased susceptibility to organophosphate toxicity and atherosclerosis when fed a high-fat/cholesterol diet. Females exhibit increased LDL and VLD cholesterol levels. Macrophages show increased oxidative stress.	Synthesis of 5-eicosatetraenoic acids	GO:0006629;lipid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009605;response to external stimulus;NAS|GO:0009636;response to toxic substance;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0016311;dephosphorylation;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0019439;aromatic compound catabolic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032411;positive regulation of transporter activity;IDA|GO:0046395;carboxylic acid catabolic process;IDA|GO:0046434;organophosphate catabolic process;IDA|GO:0046470;phosphatidylcholine metabolic process;IDA|GO:0051099;positive regulation of binding;IDA|GO:0070542;response to fatty acid;IEA|GO:1902617;response to fluoride;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0034366;spherical high-density lipoprotein particle;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004063;aryldialkylphosphatase activity;IDA|GO:0004064;arylesterase activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005543;phospholipid binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0102007;acyl-L-homoserine-lactone lactonohydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PON1	https://www.uniprot.org/uniprot/P27169	https://hpo.jax.org/app/browse/search?q=PON1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=168820	http://www.informatics.jax.org/searchtool/Search.do?query=PON1&submit=Quick%0D%362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PON1	rs705380	0.941693	0	0	1	0	0	upstream	intronic	UTR5	PON1	PON1	ENSG00000005421(ENST00000222381:c.-126C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	451;16|22	Hom;G>C	622;0|23
N	N	-	7	94953949	94953949	T	C	snp	UTR5	-162A>G	 	 	 	PON1	Pon1	ENSG00000005421	paraoxonase 1	chr7:94926988-95025673	The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]	stroke; Alzheimer's Disease; cardiovascular; Cardiovascular Diseases|Obesity|Virilism; angina; cholesterol, HDL; C-reactive protein; carotid intima-media thickness; multiple myeloma; cholesterol, HDL; apoAI; Albuminuria|Cardiovascular Diseases|Diabetes Mellitus|Hypertension|Kidney Diseases|Renal Insufficiency; diabetes, type 2; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Brain Ischemia; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; response to TNF antagonist treatment; brain cancer; Coronary Disease|Coronary heart disease|Myocardial Infarction; Autism; dementia; breast cancer; pesticide toxicity; normal variation; hypercholesterolemia; retinopathy, diabetic; nephropathy in other diseases; birth weight gestational age oxidative stress; Coronary Disease|Myocardial Infarction; lipids; myocardial infarction; lipid concentrations; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; DNA Damage|Neoplasms, Glandular and Epithelial|Ovarian Neoplasms; Environmental Illness|; intima media thickness; uremia; Arthritis, Rheumatoid; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; nephropathy, diabetic; coronary artery disease; null; non-Hodgkin's lymphoma; cholesterol, HDL; paraoxonase activity; preterm delivery; glomerulonephritis; diabetes, type 2; nephropathy in other diseases; coronary artery disease; lipoproteins; fluvastatin, clinical events with; treatment with fluvastatin, response to; C-reactive protein cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; myocardial infarct stroke, ischemic; lipid metabolism; Parkinson's disease ; Carotid Artery Diseases|Inflammation|Lupus Erythematosus, Systemic|Lupus Nephritis; cerebral infarct; body mass paraoxonase activity polycystic ovary syndrome; Insulin Resistance|Polycystic Ovary Syndrome; Acute Coronary Syndrome|Myocardial Infarction|Recurrence; hypertension; Multiple Chemical Sensitivity; Type 2 Diabetes| edema | rosiglitazone; cholesterol, HDL; Alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular; kidney transplant complications; lipids; longevity; vascular disease; Alzheimer's disease; Astrocytoma|Brain Neoplasms|Meningeal Neoplasms|meningioma; atherosclerosis; pancreatitis; pancreatitis, alcoholic; pancreatitis, chronic; lipid peroxidation; paraoxonase1 activity; macular degeneration; childhood brain tumors | residential insecticide exposure; Obesity|Vascular Diseases; heart disease, ischemic; glucose response; retinopathy, diabetic; cerebral amyloid angiopathy; coronary heart disease; depression; abdominal aortic aneurysm homocysteine hypertension; coronary artery disease risk; Apoplexy|Constriction, Pathologic|Stroke; Hypoxia-Ischemia, Brain|Stroke; Arthritis, Rheumatoid|Rheumatoid Arthritis; bladder cancer; coronary artery disease.; PON1 expression; diabetes, type 1 ; breast cancer ; Apoplexy|Stroke; esophageal adenocarcinoma; diabetes, type 2; cerebrovascular disease; Coronary Artery Disease|Coronary Stenosis; Multiple Myeloma; Chronic renal failure|Kidney Failure, Chronic; Breath Tests; stroke, ischemic; Myocardial Infarction; fasting total cholesterol and LDL-cholesterol concentrations only; glaucoma, primary open-angle; atherosclerosis, coronary; lipids; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; lymphoma, Non-Hodgkin's; Coronary Disease|Coronary heart disease; childhood brain tumor; left ventricular hypertrophy; cholesterol, HDL; triglycerides; Apoplexy|Brain Ischemia|Coronary Disease|Coronary heart disease|Stroke; Alzheimer's Disease/Coronary artery disease; acetylcholinesterase; paraoxonase; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; myocardial infarction; bone density; lung cancer; carotid artery damage; Atherosclerosis|Carotid Artery Diseases|Diabetes Mellitus, Type 2|; Aortic Aneurysm, Abdominal|; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; diazonase activity; Stroke; hepatitis C, chronic; Brain Ischemia|Cerebral Hemorrhage|Stroke; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; glucose; paraoxonase-1; plasma HDL-C levels; cardiovascular risk; Amyotrophic Lateral Sclerosis|; coronary artery disease; diabetes, type 2; chronic symptoms in pesticide-exposed workers; cerebral amyloid angiopathy.; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Coronary Disease; Myocardial Ischemia; BMI- Edema rosiglitazone or pioglitazone; Body Height; carotid atherosclerosis; DNA damage; Kidney Diseases; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; coronary artery reactivity; lipoprotein oxidation; Cell Adhesion Molecules; HTL hydrolase; bone mineral density (BMD); Infection|Inflammation|Premature Birth; human fertility; lupus erythematosus paraoxonase 1 activity; Coronary Artery Disease|; ill health, sheep dip related; colorectal cancer; Cardiovascular disease; Spinal Dysraphism; multiple sclerosis; cerebrovascular disease; Cardiovascular Diseases; coronary artery spasm; Crohn's disease ulcerative colitis; prostate cancer; carotid intima-media thickness; schizophrenia; Neoplasms; Cleft Lip|Cleft Palate; blood pressure, arterial; Fetal Growth Retardation|Intrauterine growth retardation; Tobacco Use Disorder; Alzheimer's disease; atherosclerosis, coronary; glomerulosclerosis, focal; atherosclerosis, generalized; Alzheimer's disease ; hyperglycemia hypertension, pregnancy induced preterm delivery; Inflammation|Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; organophosphate toxicity; lipid metabolism disorders; cardiovascular disease; coronary endothelial vasomotor dysfunction; preeclampsia; oxidative stress ; Liver Diseases; Coronary Artery Disease|Myocardial Infarction; Coronary Artery Disease; Coronary Artery Disease|Diabetes Mellitus|Hyperlipidemias|Hypertension|Myocardial Infarction; Hypercholesterolemia|LDLC levels; Type 2 diabetes; atherosclerosis, coronary cholesterol, HDL triglycerides; nephropathy in other diseases; paraoxonase; Cholesterol, HDL/blood*; Atherosclerosis|Cardiovascular Diseases|; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; diabetes, type 2; insulin; Arsenic Poisoning|Cardiovascular Diseases; Coronary Disease|Coronary heart disease|Hyperlipidemias; Hypertension; Brain Ischemia|Stroke; insulin resistance; nephropathy, IgA; atherosclerosis, coronary; hypercholesterolemia; Agricultural Workers' Diseases|DNA Damage|Substance-Related Disorders; Carotid Artery Diseases|; Atherosclerosis|Carotid Artery Diseases; Hyperhomocysteinemia; Apoplexy|Brain Ischemia|Stroke; Premature Birth; coronary atherosclerosis; DNA Damage; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Inflammation|Premature Birth; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Alzheimer's disease; vascular dementia; Brain Ischemia|Hypertension|Osteoporosis|Stroke; cholesterol, HDL; lipoproteins; Adrenal Hyperplasia, Congenital|Hyperandrogenism; plasma lipoproteins; restenosis; Coronary Disease|Coronary heart disease|Metabolic Syndrome X; obesity; P-Selectin; retinopathy, diabetic; albumin excretion rate; myocardial infarct; ALS/amyotrophic lateral sclerosis; metabolic syndrome; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; HDL-cholesterol level; multiple chemical sensitivity; paraoxonase activity; Acute Coronary Syndrome|Inflammation; increased serum glucose concentrations; arylesterase activity cholesterol cholesterol, HDL cholesterol, LDL; anxiety disorder; lipoprotein; oxidative stress; cholesterol, HDL; lipoprotein, LDL; cholesterol, LDL; cholesterol, total; Kidney Failure, Chronic; Coronary Artery Disease|Disease Susceptibility; paraoxonase-1 specific activity; diabetes, type 2; lipoprotein; Abortion, Spontaneous|Thrombosis; Parkinson's disease; lipoprotein; lipids; Cardiovascular Diseases|; diabetes, type 1; PON1 activity; more degree of homeostasis model assessment IR; Diabetes Mellitus, Type 2|Mouth Diseases; Glomerulonephritis, IGA; paraoxinase 1 activity; beta-cell function; intima-media thickness; cardiac death; lipoproteins; Amyotrophic Lateral Sclerosis; Macular Degeneration|Vision, Low; pharmacogenetic studies; Coronary Heart Disease; osteonecrosis; ovarian cancer ; Obesity; Agricultural Workers' Diseases; cholesterol, HDL; triglycerides; lipids; hearing loss/deafness; Recurrence|Venous Thromboembolism	Homozygous mutation of this gene results in increased susceptibility to organophosphate toxicity and atherosclerosis when fed a high-fat/cholesterol diet. Females exhibit increased LDL and VLD cholesterol levels. Macrophages show increased oxidative stress.	Synthesis of 5-eicosatetraenoic acids	GO:0006629;lipid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009605;response to external stimulus;NAS|GO:0009636;response to toxic substance;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0016311;dephosphorylation;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0019439;aromatic compound catabolic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032411;positive regulation of transporter activity;IDA|GO:0046395;carboxylic acid catabolic process;IDA|GO:0046434;organophosphate catabolic process;IDA|GO:0046470;phosphatidylcholine metabolic process;IDA|GO:0051099;positive regulation of binding;IDA|GO:0070542;response to fatty acid;IEA|GO:1902617;response to fluoride;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0034366;spherical high-density lipoprotein particle;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004063;aryldialkylphosphatase activity;IDA|GO:0004064;arylesterase activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005543;phospholipid binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0102007;acyl-L-homoserine-lactone lactonohydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PON1	https://www.uniprot.org/uniprot/P27169	https://hpo.jax.org/app/browse/search?q=PON1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=168820	http://www.informatics.jax.org/searchtool/Search.do?query=PON1&submit=Quick%0D%362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PON1	rs705381	0.743011	0	0	1	0	0	upstream	intronic	UTR5	PON1	PON1	ENSG00000005421(ENST00000222381:c.-162A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	510;23|23	Hom;T>C	555;0|21
N	N	-	7	95089014	95089014	G	T	snp	intergenic	 	 	 	 	PON2	Pon2	ENSG00000105854	paraoxonase 2	chr7:95034175-95064510	This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	bone mineral density (BMD); Hyperhomocysteinemia; Iron; nephropathy in other diseases; Myocardial Infarction; Infection|Inflammation|Premature Birth; normal variation; Cerebral Hemorrhage|Cerebral Infarction|Stroke; glaucoma, primary open-angle; blood pressure, arterial hypertension; Alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular; Asthma|; Obesity; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; Coronary Artery Disease|; null; stroke, ischemic; Liver Diseases; Type 2 diabetes; ALS/amyotrophic lateral sclerosis; Crohn's disease ulcerative colitis; Apoplexy|Brain Ischemia|Stroke; atherosclerosis; Hypertension; Arsenic Poisoning|Cardiovascular Diseases; Kidney Failure, Chronic; Inflammation|Premature Birth; diabetes, type 2; diabetes, type 1; restenosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; retinopathy, diabetic; albumin excretion rate; preterm delivery; diabetes, type 2; stroke, ischemic; Coronary Disease|Hyperlipoproteinemia Type II; cognitive trait; Alzheimer's disease; dementia, vascular; plasma HDL-C levels; Cardiovascular Diseases|; myocardial infarct; atherosclerosis, coronary; Amyotrophic Lateral Sclerosis|; left ventricular hypertrophy; cardiovascular risk; intima-media thickness; Aging/ Telomere Length; hypercholesterolemia; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; Recurrence|Venous Thromboembolism; cardiovascular; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; coronary artery disease; Aortic Aneurysm, Abdominal|; atherosclerosis, coronary; DNA damage; bone density; multiple chemical sensitivity; oxidative stress ; Alzheimer's disease ; nephropathy; breast cancer; Atherosclerosis|Carotid Artery Diseases; atherosclerosis, coronary; hypercholesterolemia; hearing loss/deafness; cholesterol cholesterol, LDL lipoprotein; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; diabetes, type 2; Amyotrophic Lateral Sclerosis; Multiple Chemical Sensitivity; Alzheimer's Disease; stroke; cardiovascular disease; Cardiovascular Diseases|Diabetes Mellitus, Type 2|Kidney Diseases; nephropathy, diabetic; Chronic renal failure|Kidney Failure, Chronic; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; Atherosclerosis; heart disease, ischemic; intima media thickness	When fed an atherogenic diet, mice homozygous for a gene trapped allele show markedly lower VLDL/LDL cholesterol and serum apoB levels, higher cellular oxidative stress, enhanced macrophage immunoreactivity and LDL-induced monocyte chemotaxis, and largeratheromatous lesions than wild-type mice.	Synthesis of 5-eicosatetraenoic acids	GO:0006979;response to oxidative stress;IEA|GO:0009636;response to toxic substance;IBA|GO:0019372;lipoxygenase pathway;TAS|GO:0019439;aromatic compound catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004064;arylesterase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IDA|GO:0046872;metal ion binding;IEA|GO:0102007;acyl-L-homoserine-lactone lactonohydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PON2	https://www.uniprot.org/uniprot/Q15165	https://hpo.jax.org/app/browse/search?q=PON2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602447	http://www.informatics.jax.org/searchtool/Search.do?query=PON2&submit=Quick%0D%3401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PON2	rs10953148	0.473043	0	0	1	0	0	intergenic	intergenic	intergenic	PON2(dist=24630),ASB4(dist=26199)	PON2(dist=24630),ASB4(dist=26199)	ENSG00000105854(dist=24504),ENSG00000233942(dist=12133)	Na	Na	Na	Na	Na	Na	Het;G>T	584;24|27	Hom;G>T	1514;0|56
N	N	-	7	95089109	95089109	A	T	snp	intergenic	 	 	 	 	PON2	Pon2	ENSG00000105854	paraoxonase 2	chr7:95034175-95064510	This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	bone mineral density (BMD); Hyperhomocysteinemia; Iron; nephropathy in other diseases; Myocardial Infarction; Infection|Inflammation|Premature Birth; normal variation; Cerebral Hemorrhage|Cerebral Infarction|Stroke; glaucoma, primary open-angle; blood pressure, arterial hypertension; Alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular; Asthma|; Obesity; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; Coronary Artery Disease|; null; stroke, ischemic; Liver Diseases; Type 2 diabetes; ALS/amyotrophic lateral sclerosis; Crohn's disease ulcerative colitis; Apoplexy|Brain Ischemia|Stroke; atherosclerosis; Hypertension; Arsenic Poisoning|Cardiovascular Diseases; Kidney Failure, Chronic; Inflammation|Premature Birth; diabetes, type 2; diabetes, type 1; restenosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; retinopathy, diabetic; albumin excretion rate; preterm delivery; diabetes, type 2; stroke, ischemic; Coronary Disease|Hyperlipoproteinemia Type II; cognitive trait; Alzheimer's disease; dementia, vascular; plasma HDL-C levels; Cardiovascular Diseases|; myocardial infarct; atherosclerosis, coronary; Amyotrophic Lateral Sclerosis|; left ventricular hypertrophy; cardiovascular risk; intima-media thickness; Aging/ Telomere Length; hypercholesterolemia; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; Recurrence|Venous Thromboembolism; cardiovascular; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; coronary artery disease; Aortic Aneurysm, Abdominal|; atherosclerosis, coronary; DNA damage; bone density; multiple chemical sensitivity; oxidative stress ; Alzheimer's disease ; nephropathy; breast cancer; Atherosclerosis|Carotid Artery Diseases; atherosclerosis, coronary; hypercholesterolemia; hearing loss/deafness; cholesterol cholesterol, LDL lipoprotein; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; diabetes, type 2; Amyotrophic Lateral Sclerosis; Multiple Chemical Sensitivity; Alzheimer's Disease; stroke; cardiovascular disease; Cardiovascular Diseases|Diabetes Mellitus, Type 2|Kidney Diseases; nephropathy, diabetic; Chronic renal failure|Kidney Failure, Chronic; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; Atherosclerosis; heart disease, ischemic; intima media thickness	When fed an atherogenic diet, mice homozygous for a gene trapped allele show markedly lower VLDL/LDL cholesterol and serum apoB levels, higher cellular oxidative stress, enhanced macrophage immunoreactivity and LDL-induced monocyte chemotaxis, and largeratheromatous lesions than wild-type mice.	Synthesis of 5-eicosatetraenoic acids	GO:0006979;response to oxidative stress;IEA|GO:0009636;response to toxic substance;IBA|GO:0019372;lipoxygenase pathway;TAS|GO:0019439;aromatic compound catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004064;arylesterase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IDA|GO:0046872;metal ion binding;IEA|GO:0102007;acyl-L-homoserine-lactone lactonohydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PON2	https://www.uniprot.org/uniprot/Q15165	https://hpo.jax.org/app/browse/search?q=PON2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602447	http://www.informatics.jax.org/searchtool/Search.do?query=PON2&submit=Quick%0D%3401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PON2	rs10953149	0.40635	0	0	1	0	0	intergenic	intergenic	intergenic	PON2(dist=24725),ASB4(dist=26104)	PON2(dist=24725),ASB4(dist=26104)	ENSG00000105854(dist=24599),ENSG00000233942(dist=12038)	Na	Na	Na	Na	Na	Na	Het;A>T	941;63|49	Hom;A>T	2610;0|99
N	N	-	7	95225673	95225673	C	G	snp	UTR5	-68G>C	 	 	 	PDK4	Pdk4	ENSG00000004799	pyruvate dehydrogenase kinase 4	chr7:95212811-95225803	This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2	Mice homozygous for a knock-out allele exhibit altered glucose homoeostasis during starvation.	Signaling by Retinoic Acid	GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006885;regulation of pH;ISS|GO:0008286;insulin receptor signaling pathway;IMP|GO:0009267;cellular response to starvation;IDA|GO:0010510;regulation of acetyl-CoA biosynthetic process from pyruvate;TAS|GO:0010565;regulation of cellular ketone metabolic process;ISS|GO:0010906;regulation of glucose metabolic process;IMP|GO:0016310;phosphorylation;IEA|GO:0042304;regulation of fatty acid biosynthetic process;IMP|GO:0042593;glucose homeostasis;ISS|GO:0042594;response to starvation;ISS|GO:0045124;regulation of bone resorption;IEA|GO:0046320;regulation of fatty acid oxidation;ISS|GO:0071398;cellular response to fatty acid;IMP|GO:0072593;reactive oxygen species metabolic process;IMP|GO:2000811;negative regulation of anoikis;IMP	GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004740;pyruvate dehydrogenase (acetyl-transferring) kinase activity;TAS|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDK4	https://www.uniprot.org/uniprot/Q16654		https://www.ncbi.nlm.nih.gov/omim/?term=602527	http://www.informatics.jax.org/searchtool/Search.do?query=PDK4&submit=Quick%0D%327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDK4	rs538445627	0.00379393	0	0	1	0	0	UTR5	UTR5	UTR5	PDK4(NM_002612:c.-68G>C)	PDK4(uc003uoa.3:c.-68G>C)	ENSG00000004799(ENST00000005178:c.-68G>C)	Na	Na	Na	Na	Na	Na	Het;C>G	103;11|6	Hom;C>G	638;0|21
N	N	-	7	95499234	95499234	A	G	snp	synonymous SNV	A405G	Q135Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DYNC1I1	Dync1i1	ENSG00000158560	dynein cytoplasmic 1 intermediate chain 1	chr7:95401866-95739634		Alcoholism; Forced Vital Capacity; Erythrocyte Count; Tunica Media	 	Mitotic Prometaphase	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007018;microtubule-based movement;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0047496;vesicle transport along microtubule;IMP	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;TAS|GO:0005874;microtubule;IEA|GO:0030286;dynein complex;IEA|GO:0031982;vesicle;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0055037;recycling endosome;IDA	GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;ISS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;ISS|GO:0030507;spectrin binding;IDA|GO:0045503;dynein light chain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DYNC1I1			https://www.ncbi.nlm.nih.gov/omim/?term=603772	http://www.informatics.jax.org/searchtool/Search.do?query=DYNC1I1&submit=Quick%0D%10227ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC1I1	rs3757697	0.121605	0.1037	0.1216	1	0	0	exonic	exonic	exonic	DYNC1I1	DYNC1I1	ENSG00000158560	synonymous SNV	synonymous SNV	unknown	DYNC1I1:NM_001135557:exon5:c.A354G:p.Q118Q,DYNC1I1:NM_001135556:exon6:c.A414G:p.Q138Q,DYNC1I1:NM_001278422:exon5:c.A354G:p.Q118Q,DYNC1I1:NM_001278421:exon5:c.A405G:p.Q135Q,DYNC1I1:NM_004411:exon6:c.A465G:p.Q155Q,	DYNC1I1:uc003uoe.4:exon5:c.A405G:p.Q135Q,DYNC1I1:uc003uob.3:exon5:c.A354G:p.Q118Q,DYNC1I1:uc003uod.4:exon6:c.A414G:p.Q138Q,DYNC1I1:uc010lfl.3:exon6:c.A432G:p.Q144Q,DYNC1I1:uc003uoc.4:exon6:c.A465G:p.Q155Q,	UNKNOWN	Het;A>G	1237;79|59	Hom;A>G	3195;2|118
N	N	-	7	95864108	95864108	T	C	snp	intronic	 	 	 	 	SLC25A13	Slc25a13	ENSG00000004864	solute carrier family 25 member 13	chr7:95749532-95951459	This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]	Autism; citrullinemia, adult-onset type II; hepatitis, neonatal associated with cholestasis; Tobacco Use Disorder; citrullinemia, adult-onset type II; Cleft Lip|Cleft Palate; Acquired Immunodeficiency Syndrome|Disease Progression; Cholestasis, Intrahepatic|Intrahepatic Cholestasis; citrin deficiency	Mice homozygous for disruptions in this gene appear normal, healthy and fertile, although they have a number of metabolic defects, but the spontaneous hyperspin deletion spanning from intron 3 to exon 17 also eliminates a modifier of Dlx5 causing a recessive vestibular and mortality phenotype	Gluconeogenesis	GO:0006094;gluconeogenesis;TAS|GO:0006754;ATP biosynthetic process;IDA|GO:0006810;transport;IEA|GO:0015810;aspartate transport;IDA|GO:0015813;L-glutamate transport;IDA|GO:0043490;malate-aspartate shuttle;IDA|GO:0045333;cellular respiration;IDA|GO:0051592;response to calcium ion;IDA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA|GO:0089712;L-aspartate transmembrane transport;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;NAS|GO:0005313;L-glutamate transmembrane transporter activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0015172;acidic amino acid transmembrane transporter activity;TAS|GO:0015183;L-aspartate transmembrane transporter activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A13	https://www.uniprot.org/uniprot/Q9UJS0	https://hpo.jax.org/app/browse/search?q=SLC25A13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603859	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A13&submit=Quick%0D%332ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A13	rs6957975	0.609824	0.6890	0.6179	1	0	0	intronic	intronic	intronic	SLC25A13	SLC25A13	ENSG00000004864	Na	Na	Na	Na	Na	Na	Het;T>C	1365;76|67	Hom;T>C	3484;0|127
N	N	-	7	9591490	9591490	G	A	snp	intergenic	 	 	 	 	AC004852.1																		rs10215481	0.314696	0	0	1	0	0	intergenic	intergenic	intergenic	NXPH1(dist=798897),PER4(dist=82410)	RBSG3(dist=362003),PER4(dist=82410)	ENSG00000271526(dist=467685),ENSG00000264766(dist=42757)	Na	Na	Na	Na	Na	Na	Het;G>A	156;37|13	Hom;G>A	1367;0|31
N	N	-	7	95936163	95936163	G	A	snp	ncRNA_exonic	 	 	 	 	JB074828																		rs12704843	0.571685	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	SLC25A13	JB074828	ENSG00000220987	Na	Na	Na	Na	Na	Na	Het;G>A	218;11|13	Hom;G>A	363;0|14
N	N	-	7	97846856	97846859	CGAG	C	indel	intronic	 	 	 	 	TECPR1	Tecpr1	ENSG00000205356	tectonin beta-propeller repeat containing 1	chr7:97843936-97881563	This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]		Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs.		GO:0006914;autophagy;IDA|GO:0097352;autophagosome maturation;IMP	GO:0000421;autophagosome membrane;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TECPR1			https://www.ncbi.nlm.nih.gov/omim/?term=614781	http://www.informatics.jax.org/searchtool/Search.do?query=TECPR1&submit=Quick%0D%17503ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR1	rs11471393	0.75619	0.7694	0.8142	1	0	0	intronic	intronic	intronic	TECPR1	TECPR1	ENSG00000205356	Na	Na	Na	Na	Na	Na	Het;-GAG	993;21|27	Hom;-GAG	1674;0|38
N	N	-	7	97852899	97852899	A	G	snp	intronic	 	 	 	 	TECPR1	Tecpr1	ENSG00000205356	tectonin beta-propeller repeat containing 1	chr7:97843936-97881563	This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]		Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs.		GO:0006914;autophagy;IDA|GO:0097352;autophagosome maturation;IMP	GO:0000421;autophagosome membrane;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TECPR1			https://www.ncbi.nlm.nih.gov/omim/?term=614781	http://www.informatics.jax.org/searchtool/Search.do?query=TECPR1&submit=Quick%0D%17503ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR1	rs2270595	0.796526	0	0	1	0	0	intronic	intronic	intronic	TECPR1	TECPR1	ENSG00000205356	Na	Na	Na	Na	Na	Na	Het;A>G	239;10|10	Hom;A>G	819;0|26
N	N	-	7	97933601	97933601	C	T	snp	synonymous SNV	G1329A	L443L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	BAIAP2L1	Baiap2l1	ENSG00000006453	BAI1 associated protein 2 like 1	chr7:97920963-98030380	This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]	Prostatic Neoplasms	Mice homozygous for a knock-out allele are developmentally normal with no overt defects in placental development. Mice homozygous for a different knock-out allele show increased circulating glucose and insulin levels, glucose intolerance, increased hepatic glucose production and insulin resistance.		GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0009617;response to bacterium;IDA|GO:0030833;regulation of actin filament polymerization;IEA|GO:0030838;positive regulation of actin filament polymerization;IDA|GO:0046626;regulation of insulin receptor signaling pathway;IEA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0098609;cell-cell adhesion;IEA|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0070064;proline-rich region binding;IDA|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L1	https://www.uniprot.org/uniprot/Q9UHR4		https://www.ncbi.nlm.nih.gov/omim/?term=611877	http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L1&submit=Quick%0D%400ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L1	rs1045916	0.555711	0.6223	0.6689	1	0	0	exonic	exonic	exonic	BAIAP2L1	BAIAP2L1	ENSG00000006453	synonymous SNV	synonymous SNV	unknown	BAIAP2L1:NM_018842:exon12:c.G1329A:p.L443L,	BAIAP2L1:uc003upj.3:exon12:c.G1329A:p.L443L,	UNKNOWN	Het;C>T	928;46|47	Hom;C>T	2656;2|106
N	N	-	7	98655223	98655223	G	T	snp	intronic	 	 	 	 	SMURF1	Smurf1	ENSG00000284126	SMAD specific E3 ubiquitin protein ligase 1	chr7:98625061-98741723	This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]	colorectal cancer; ulcerative colitis; Colitis, Ulcerative; Body Height	Mice homozygous for one knock-out allele display increased osteoblast function, bone density, and thickness of the cortical bone in long bones.  Mice homozygous for a different knock-out allele are viable and only display gastrulation defects in combination with a Smurf2 knock-out allele.					http://www.genecards.org/index.php?path=/Search/keyword/SMURF1			https://www.ncbi.nlm.nih.gov/omim/?term=605568	http://www.informatics.jax.org/searchtool/Search.do?query=SMURF1&submit=Quick%0D%22926ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMURF1	rs61690993	0.651957	0	0.5649	1	0	0	intronic	intronic	intronic	SMURF1	SMURF1	ENSG00000198742	Na	Na	Na	Na	Na	Na	Het;G>T	1146;35|31	Hom;G>T	3232;0|74
N	N	-	7	99293475	99293475	T	A	snp	intronic	 	 	 	 	CYP3A7-CYP3A51P																		rs2740565	0.646565	0.7658	0.8149	1	0	0	intronic	intronic	intergenic	CYP3A7-CYP3A51P	CYP3A5,CYP3A7-CYP3AP1	ENSG00000106258(dist=15854),ENSG00000160870(dist=9192)	Na	Na	Na	Na	Na	Na	Het;T>A	414;12|20	Hom;T>A	897;0|34
N	N	-	7	99297804	99297804	C	T	snp	intronic	 	 	 	 	CYP3A7-CYP3A51P																		rs2177180	0.645367	0	0	1	0	0	intronic	intronic	intergenic	CYP3A7-CYP3A51P	CYP3A5,CYP3A7-CYP3AP1	ENSG00000106258(dist=20183),ENSG00000160870(dist=4863)	Na	Na	Na	Na	Na	Na	Het;C>T	56;1|4	Hom;C>T	183;0|6
N	N	-	7	99303094	99303094	G	A	snp	UTR3	*29C>T	 	 	 	CYP3A7	Cyp3a13	ENSG00000160870	cytochrome P450 family 3 subfamily A member 7	chr7:99302660-99332819	This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]	bladder cancer; Polycystic Ovary Syndrome; chronic obstructive pulmonary disease; bone density dehydroepiandrosterone sulfate levels; breast cancer ; bone density dehydroepiandrosterone sulphate osteoporosis; Cleft Lip|Cleft Palate; midazolam; enzyme activity; clozapine; prostate cancer; lung cancer; null; lopinavir accumulation; normal variation; drug-related genes ; cyclosporine; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; epithelial ovarian cancer 	Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology.	Xenobiotics	GO:0002933;lipid hydroxylation;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP3A7			https://www.ncbi.nlm.nih.gov/omim/?term=605340	http://www.informatics.jax.org/searchtool/Search.do?query=CYP3A7&submit=Quick%0D%10523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP3A7	rs12360	0.645367	0.7483	0.8076	1	0	0	UTR3	UTR3	UTR3	CYP3A7(NM_000765:c.*29C>T)	CYP3A7(uc003uru.3:c.*29C>T)	ENSG00000160870(ENST00000336374:c.*29C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	583;16|29	Hom;G>A	781;0|29
N	N	-	7	99306566	99306566	C	T	snp	intronic	 	 	 	 	CYP3A7	Cyp3a13	ENSG00000160870	cytochrome P450 family 3 subfamily A member 7	chr7:99302660-99332819	This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]	bladder cancer; Polycystic Ovary Syndrome; chronic obstructive pulmonary disease; bone density dehydroepiandrosterone sulfate levels; breast cancer ; bone density dehydroepiandrosterone sulphate osteoporosis; Cleft Lip|Cleft Palate; midazolam; enzyme activity; clozapine; prostate cancer; lung cancer; null; lopinavir accumulation; normal variation; drug-related genes ; cyclosporine; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; epithelial ovarian cancer 	Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology.	Xenobiotics	GO:0002933;lipid hydroxylation;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP3A7			https://www.ncbi.nlm.nih.gov/omim/?term=605340	http://www.informatics.jax.org/searchtool/Search.do?query=CYP3A7&submit=Quick%0D%10523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP3A7	rs2687077	0.669728	0	0	1	0	0	intronic	intronic	intronic	CYP3A7,CYP3A7-CYP3A51P	CYP3A5,CYP3A7,CYP3A7-CYP3AP1	ENSG00000160870	Na	Na	Na	Na	Na	Na	Het;C>T	152;12|8	Hom;C>T	404;0|13
N	N	-	7	99306685	99306685	C	G	snp	nonsynonymous SNV	G1226C	R409T	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	CYP3A7	Cyp3a13	ENSG00000160870	cytochrome P450 family 3 subfamily A member 7	chr7:99302660-99332819	This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]	bladder cancer; Polycystic Ovary Syndrome; chronic obstructive pulmonary disease; bone density dehydroepiandrosterone sulfate levels; breast cancer ; bone density dehydroepiandrosterone sulphate osteoporosis; Cleft Lip|Cleft Palate; midazolam; enzyme activity; clozapine; prostate cancer; lung cancer; null; lopinavir accumulation; normal variation; drug-related genes ; cyclosporine; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; epithelial ovarian cancer 	Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology.	Xenobiotics	GO:0002933;lipid hydroxylation;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP3A7			https://www.ncbi.nlm.nih.gov/omim/?term=605340	http://www.informatics.jax.org/searchtool/Search.do?query=CYP3A7&submit=Quick%0D%10523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP3A7	rs2257401	0.669529	0.7640	0.8133	1	0	0	exonic	exonic	exonic	CYP3A7,CYP3A7-CYP3A51P	CYP3A7,CYP3A7-CYP3AP1	ENSG00000160870	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP3A7-CYP3A51P:NM_001256497:exon11:c.G1226C:p.R409T,CYP3A7:NM_000765:exon11:c.G1226C:p.R409T,	CYP3A7-CYP3AP1:uc031syj.1:exon11:c.G1226C:p.R409T,CYP3A7:uc003uru.3:exon11:c.G1226C:p.R409T,	UNKNOWN	Het;C>G	900;67|40	Hom;C>G	2883;0|97
N	N	-	7	99314986	99314986	A	G	snp	intronic	 	 	 	 	CYP3A7	Cyp3a13	ENSG00000160870	cytochrome P450 family 3 subfamily A member 7	chr7:99302660-99332819	This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]	bladder cancer; Polycystic Ovary Syndrome; chronic obstructive pulmonary disease; bone density dehydroepiandrosterone sulfate levels; breast cancer ; bone density dehydroepiandrosterone sulphate osteoporosis; Cleft Lip|Cleft Palate; midazolam; enzyme activity; clozapine; prostate cancer; lung cancer; null; lopinavir accumulation; normal variation; drug-related genes ; cyclosporine; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; epithelial ovarian cancer 	Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology.	Xenobiotics	GO:0002933;lipid hydroxylation;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP3A7			https://www.ncbi.nlm.nih.gov/omim/?term=605340	http://www.informatics.jax.org/searchtool/Search.do?query=CYP3A7&submit=Quick%0D%10523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP3A7	rs2687075	0.667532	0	0	1	0	0	intronic	intronic	intronic	CYP3A7,CYP3A7-CYP3A51P	CYP3A5,CYP3A7,CYP3A7-CYP3AP1	ENSG00000160870	Na	Na	Na	Na	Na	Na	Het;A>G	456;26|17	Hom;A>G	1680;0|49
N	N	-	7	99581874	99581874	C	G	snp	downstream	 	 	 	 	AZGP1P1																		rs10274982	0.670128	0	0	1	0	0	downstream	intronic	ncRNA_intronic	AZGP1P1	AZGP1P1	ENSG00000214313	Na	Na	Na	Na	Na	Na	Het;C>G	225;8|9	Hom;C>G	662;0|22
N	N	-	7	99583650	99583650	G	A	snp	ncRNA_exonic	 	 	 	 	AZGP1P1																		rs4729562	0.721046	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	AZGP1P1(dist=1790),ZKSCAN1(dist=29545)	AZGP1P1	ENSG00000214313	Na	Na	Na	Na	Na	Na	Het;G>A	687;19|30	Hom;G>A	1544;0|55
N	N	-	7	99807146	99807146	C	G	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1138417	0.657348	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GATS,STAG3	GATS,STAG3	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;C>G	1729;85|78	Hom;C>G	4042;0|141
N	N	-	7	99807265	99807265	G	A	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1061230	0.60603	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GATS,STAG3	GATS,STAG3	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;G>A	1257;63|58	Hom;G>A	3389;0|124
N	N	-	7	99808151	99808151	G	A	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1637001	0.623003	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GATS,STAG3	GATS,STAG3	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;G>A	2192;85|97	Hom;G>A	5384;0|189
N	N	-	7	99810643	99810643	T	G	snp	ncRNA_exonic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1618851	0.60623	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GATS,STAG3	GATS,STAG3	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;T>G	229;7|8	Hom;T>G	182;0|5
N	N	-	7	99811464	99811464	C	G	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1727130	0.60643	0.7102	0.6833	1	0	0	intronic	intronic	ncRNA_intronic	GATS,STAG3	GATS,STAG3	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;C>G	634;26|30	Hom;C>G	1646;1|62
N	N	-	7	99811836	99811836	A	T	snp	UTR3	*198A>T	 	 	 	STAG3	Stag3	ENSG00000066923	stromal antigen 3	chr7:99775186-99819111	The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]	ovarian cancer 	Mice homozygous for a transgenic gene disruption exhibit azoospermia and lack oocytes.	Meiotic synapsis	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;TAS|GO:0000800;lateral element;IEA|GO:0000802;transverse filament;IEA|GO:0001673;male germ cell nucleus;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/STAG3	https://www.uniprot.org/uniprot/Q9UJ98	https://hpo.jax.org/app/browse/search?q=STAG3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608489	http://www.informatics.jax.org/searchtool/Search.do?query=STAG3&submit=Quick%0D%34ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAG3	rs1052482	0.60603	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	STAG3(NM_001282716:c.*198A>T,NM_012447:c.*198A>T,NM_001282718:c.*198A>T,NM_001282717:c.*198A>T)	STAG3(uc003utx.1:c.*198A>T,uc011kjk.1:c.*198A>T,uc003uub.1:c.*198A>T)	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;A>T	932;38|42	Hom;A>T	2210;5|89
N	N	-	7	99812089	99812089	A	G	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1636975	0.60643	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GATS	GATS	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;A>G	202;3|10	Hom;A>G	576;0|18
N	N	-	7	99816179	99816179	T	C	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1727142	0.691094	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GATS	GATS	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;T>C	1215;25|51	Hom;T>C	2672;0|96
N	N	-	7	99816272	99816272	A	G	snp	unknown	 	 	 	 	STAG3	Stag3	ENSG00000066923	stromal antigen 3	chr7:99775186-99819111	The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]	ovarian cancer 	Mice homozygous for a transgenic gene disruption exhibit azoospermia and lack oocytes.	Meiotic synapsis	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;TAS|GO:0000800;lateral element;IEA|GO:0000802;transverse filament;IEA|GO:0001673;male germ cell nucleus;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/STAG3	https://www.uniprot.org/uniprot/Q9UJ98	https://hpo.jax.org/app/browse/search?q=STAG3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608489	http://www.informatics.jax.org/searchtool/Search.do?query=STAG3&submit=Quick%0D%34ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAG3	rs1636986	0.692292	0	0.5199	1	0	0	intronic	intronic	exonic	GATS	GATS,PVRIG	ENSG00000066923	Na	Na	unknown	Na	Na	UNKNOWN	Het;A>G	1955;35|50	Hom;A>G	3409;0|77
N	N	-	7	99816275	99816275	G	C	snp	unknown	 	 	 	 	STAG3	Stag3	ENSG00000066923	stromal antigen 3	chr7:99775186-99819111	The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]	ovarian cancer 	Mice homozygous for a transgenic gene disruption exhibit azoospermia and lack oocytes.	Meiotic synapsis	GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;TAS|GO:0000800;lateral element;IEA|GO:0000802;transverse filament;IEA|GO:0001673;male germ cell nucleus;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/STAG3	https://www.uniprot.org/uniprot/Q9UJ98	https://hpo.jax.org/app/browse/search?q=STAG3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608489	http://www.informatics.jax.org/searchtool/Search.do?query=STAG3&submit=Quick%0D%34ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAG3	rs1636987	0.692692	0	0.5397	1	0	0	intronic	intronic	exonic	GATS	GATS,PVRIG	ENSG00000066923	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>C	1949;37|49	Hom;G>C	3409;0|77
N	N	-	7	99816437	99816437	G	A	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs1636988	0.646965	0	0	1	0	0	intronic	intronic	ncRNA_intronic	GATS	GATS,PVRIG	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;G>A	102;4|5	Hom;G>A	113;0|4
N	N	-	7	99817859	99817859	A	G	snp	nonsynonymous SNV	A241G	N81D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	PVRIG	Pvrig	ENSG00000213413	poliovirus receptor related immunoglobulin domain containing	chr7:99815864-99819113			 		GO:0050860;negative regulation of T cell receptor signaling pathway;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PVRIG			https://www.ncbi.nlm.nih.gov/omim/?term=617012	http://www.informatics.jax.org/searchtool/Search.do?query=PVRIG&submit=Quick%0D%18123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PVRIG	rs2906645	0.657548	0.7620	0.7468	0.08	1	12	exonic	exonic	exonic	PVRIG	PVRIG	ENSG00000213413	nonsynonymous SNV	nonsynonymous SNV	unknown	PVRIG:NM_024070:exon3:c.A241G:p.N81D,	PVRIG:uc003uue.2:exon4:c.A241G:p.N81D,PVRIG:uc003uuf.1:exon3:c.A241G:p.N81D,	UNKNOWN	Het;A>G	2570;109|108	Hom;A>G	4981;0|171
N	N	-	7	99819004	99819008	CTCTG	C	indel	UTR3	*130_*134delinsC	 	 	 	PVRIG	Pvrig	ENSG00000213413	poliovirus receptor related immunoglobulin domain containing	chr7:99815864-99819113			 		GO:0050860;negative regulation of T cell receptor signaling pathway;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PVRIG			https://www.ncbi.nlm.nih.gov/omim/?term=617012	http://www.informatics.jax.org/searchtool/Search.do?query=PVRIG&submit=Quick%0D%18123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PVRIG	rs141918023	0.657548	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	PVRIG(NM_024070:c.*130_*134delinsC)	PVRIG(uc003uue.2:c.*130_*134delinsC,uc003uuf.1:c.*130_*134delinsC)	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;-TCTG	751;31|21	Hom;-TCTG	2660;0|61
N	N	-	7	99821381	99821381	C	G	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs858508	0.657548	0.7547	0	1	0	0	intronic	intronic	ncRNA_intronic	GATS	GATS	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;C>G	636;27|25	Hom;C>G	1879;0|65
N	N	-	7	99821470	99821470	A	G	snp	ncRNA_intronic	 	 	 	 	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs858509	0.676118	0.7842	0.7017	1	0	0	intronic	intronic	ncRNA_intronic	GATS	GATS	ENSG00000239521	Na	Na	Na	Na	Na	Na	Het;A>G	1062;35|45	Hom;A>G	1901;0|58
N	N	-	7	99821685	99821685	C	T	snp	synonymous SNV	G231A	S77S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	GATS		ENSG00000239521	GATS, stromal antigen 3 opposite strand	chr7:99798283-99869855								http://www.genecards.org/index.php?path=/Search/keyword/GATS				http://www.informatics.jax.org/searchtool/Search.do?query=GATS&submit=Quick%0D%19570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GATS	rs863450	0.657548	0.7681	0.6977	1	0	0	exonic	exonic	exonic	GATS	GATS	ENSG00000160844	synonymous SNV	synonymous SNV	unknown	GATS:NM_178831:exon3:c.G231A:p.S77S,	GATS:uc003uua.4:exon3:c.G231A:p.S77S,	UNKNOWN	Het;C>T	1099;50|50	Hom;C>T	2652;2|96
N	N	-	8	102585806	102585806	G	A	snp	intronic	 	 	 	 	GRHL2	Grhl2	ENSG00000083307	grainyhead like transcription factor 2	chr8:102504660-102681954	The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]	Tobacco Use Disorder; Presbycusis| Hearing Loss	Mice homozygous for a null mutation display embryonic lethality during organogenesis with cranioschisis, facial cleft, impaired neural fold elevation, and an open posterior neuropore.		GO:0001701;in utero embryonic development;IEA|GO:0001843;neural tube closure;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007155;cell adhesion;IMP|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;IMP|GO:0008544;epidermis development;IDA|GO:0010468;regulation of gene expression;IEA|GO:0021915;neural tube development;IEA|GO:0030323;respiratory tube development;IEA|GO:0034329;cell junction assembly;IMP|GO:0035264;multicellular organism growth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0044030;regulation of DNA methylation;IDA|GO:0045617;negative regulation of keratinocyte differentiation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060324;face development;IEA|GO:0060463;lung lobe morphogenesis;IEA|GO:0060487;lung epithelial cell differentiation;IEA|GO:0060672;epithelial cell morphogenesis involved in placental branching;IEA|GO:0070830;bicellular tight junction assembly;IMP|GO:0090132;epithelium migration;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA	GO:0001161;intronic transcription regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0031490;chromatin DNA binding;IDA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GRHL2	https://www.uniprot.org/uniprot/Q6ISB3	https://hpo.jax.org/app/browse/search?q=GRHL2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608576	http://www.informatics.jax.org/searchtool/Search.do?query=GRHL2&submit=Quick%0D%1824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRHL2	rs548564	0.540735	0	0	1	0	0	intronic	intronic	intronic	GRHL2	GRHL2	ENSG00000083307	Na	Na	Na	Na	Na	Na	Het;G>A	179;5|7	Hom;G>A	331;0|11
N	N	-	8	102613387	102613391	AACAC	A	indel	intronic	 	 	 	 	GRHL2	Grhl2	ENSG00000083307	grainyhead like transcription factor 2	chr8:102504660-102681954	The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]	Tobacco Use Disorder; Presbycusis| Hearing Loss	Mice homozygous for a null mutation display embryonic lethality during organogenesis with cranioschisis, facial cleft, impaired neural fold elevation, and an open posterior neuropore.		GO:0001701;in utero embryonic development;IEA|GO:0001843;neural tube closure;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007155;cell adhesion;IMP|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;IMP|GO:0008544;epidermis development;IDA|GO:0010468;regulation of gene expression;IEA|GO:0021915;neural tube development;IEA|GO:0030323;respiratory tube development;IEA|GO:0034329;cell junction assembly;IMP|GO:0035264;multicellular organism growth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0044030;regulation of DNA methylation;IDA|GO:0045617;negative regulation of keratinocyte differentiation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060324;face development;IEA|GO:0060463;lung lobe morphogenesis;IEA|GO:0060487;lung epithelial cell differentiation;IEA|GO:0060672;epithelial cell morphogenesis involved in placental branching;IEA|GO:0070830;bicellular tight junction assembly;IMP|GO:0090132;epithelium migration;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA	GO:0001161;intronic transcription regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0031490;chromatin DNA binding;IDA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GRHL2	https://www.uniprot.org/uniprot/Q6ISB3	https://hpo.jax.org/app/browse/search?q=GRHL2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608576	http://www.informatics.jax.org/searchtool/Search.do?query=GRHL2&submit=Quick%0D%1824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRHL2	rs5893575	0	0	0	1	0	0	intronic	intronic	intronic	GRHL2	GRHL2	ENSG00000083307	Na	Na	Na	Na	Na	Na	Het;-ACAC	170;1|5	Hom;-ACAC	143;0|4
N	N	-	8	103073924	103073924	T	A	snp	intronic	 	 	 	 	NCALD	Ncald	ENSG00000104490	neurocalcin delta	chr8:102698771-103137135	This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	Diabetes Mellitus, Type 2|Diabetic Neuropathies; Tobacco Use Disorder; Cognitive performance 	Homozygotes for a knock-out allele show reduced fertility, decreased body and brain weight, enlarged lateral ventricles, a reduction in subgranular zone length of the dentate gyrus, impaired adult neurogenesis in the hippocampus, and increased axonal length in spinal motor neurons.	Activation of Ca-permeable Kainate Receptor	GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0019722;calcium-mediated signaling;IEA|GO:0034220;ion transmembrane transport;IEA	GO:0005622;intracellular;IDA|GO:0005829;cytosol;TAS|GO:0030130;clathrin coat of trans-Golgi network vesicle;NAS|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015631;tubulin binding;IDA|GO:0030276;clathrin binding;IDA|GO:0043014;alpha-tubulin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NCALD	https://www.uniprot.org/uniprot/P61601		https://www.ncbi.nlm.nih.gov/omim/?term=606722	http://www.informatics.jax.org/searchtool/Search.do?query=NCALD&submit=Quick%0D%3130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NCALD	rs1269692	0.722444	0	0	1	0	0	intronic	intronic	intronic	NCALD	NCALD	ENSG00000104490	Na	Na	Na	Na	Na	Na	Het;T>A	41;6|4	Hom;T>A	71;0|4
N	N	-	8	104933720	104933720	C	A	snp	intronic	 	 	 	 	RIMS2	Rims2	ENSG00000176406	regulating synaptic membrane exocytosis 2	chr8:104512976-105268322		Cholesterol, LDL; Tobacco Use Disorder; Glucose; Forced Expiratory Volume; smoking cessation; Heroin Dependence; Forced Vital Capacity	Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death.		GO:0006886;intracellular protein transport;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0017157;regulation of exocytosis;ISS|GO:0019933;cAMP-mediated signaling;ISS|GO:0030073;insulin secretion;ISS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061669;spontaneous neurotransmitter secretion;ISS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS2			https://www.ncbi.nlm.nih.gov/omim/?term=606630	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS2&submit=Quick%0D%13854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS2	rs6468895	0.572284	0	0	1	0	0	intronic	intronic	intronic	RIMS2	RIMS2	ENSG00000176406	Na	Na	Na	Na	Na	Na	Het;C>A	137;1|4	Hom;C>A	107;0|3
N	N	-	8	104933725	104933725	G	T	snp	intronic	 	 	 	 	RIMS2	Rims2	ENSG00000176406	regulating synaptic membrane exocytosis 2	chr8:104512976-105268322		Cholesterol, LDL; Tobacco Use Disorder; Glucose; Forced Expiratory Volume; smoking cessation; Heroin Dependence; Forced Vital Capacity	Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death.		GO:0006886;intracellular protein transport;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0017157;regulation of exocytosis;ISS|GO:0019933;cAMP-mediated signaling;ISS|GO:0030073;insulin secretion;ISS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061669;spontaneous neurotransmitter secretion;ISS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS2			https://www.ncbi.nlm.nih.gov/omim/?term=606630	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS2&submit=Quick%0D%13854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS2	rs6468896	0.572284	0	0	1	0	0	intronic	intronic	intronic	RIMS2	RIMS2	ENSG00000176406	Na	Na	Na	Na	Na	Na	Het;G>T	137;1|4	Hom;G>T	107;0|3
N	N	-	8	104934028	104934028	G	A	snp	nonsynonymous SNV	G385A	V129I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	RIMS2	Rims2	ENSG00000176406	regulating synaptic membrane exocytosis 2	chr8:104512976-105268322		Cholesterol, LDL; Tobacco Use Disorder; Glucose; Forced Expiratory Volume; smoking cessation; Heroin Dependence; Forced Vital Capacity	Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death.		GO:0006886;intracellular protein transport;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0017157;regulation of exocytosis;ISS|GO:0019933;cAMP-mediated signaling;ISS|GO:0030073;insulin secretion;ISS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061669;spontaneous neurotransmitter secretion;ISS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RIMS2			https://www.ncbi.nlm.nih.gov/omim/?term=606630	http://www.informatics.jax.org/searchtool/Search.do?query=RIMS2&submit=Quick%0D%13854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS2	rs6468897	0.571685	0.6993	0.6366	1	0	0	intronic	exonic	intronic	RIMS2	RIMS2	ENSG00000176406	Na	nonsynonymous SNV	Na	Na	RIMS2:uc003ylv.1:exon4:c.G385A:p.V129I,	Na	Het;G>A	588;26|28	Hom;G>A	1562;0|57
N	N	-	8	105479149	105479149	A	G	snp	UTR5	-1T>C	 	 	 	DPYS	Dpys	ENSG00000147647	dihydropyrimidinase	chr8:105342552-105479281	Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism.  Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript.  Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]	Liver Diseases; Cell Adhesion Molecules; Drug Toxicity|Neoplasms; Colorectal Neoplasms	 	Pyrimidine catabolism	GO:0006208;pyrimidine nucleobase catabolic process;IDA|GO:0006210;thymine catabolic process;IEA|GO:0006212;uracil catabolic process;IDA|GO:0019482;beta-alanine metabolic process;IEA|GO:0019860;uracil metabolic process;IEA|GO:0046135;pyrimidine nucleoside catabolic process;TAS|GO:0051260;protein homooligomerization;IEA|GO:0051289;protein homotetramerization;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0002058;uracil binding;IEA|GO:0002059;thymine binding;IEA|GO:0004157;dihydropyrimidinase activity;TAS|GO:0008270;zinc ion binding;NAS|GO:0016597;amino acid binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0046872;metal ion binding;IEA|GO:0051219;phosphoprotein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DPYS	https://www.uniprot.org/uniprot/Q14117	https://hpo.jax.org/app/browse/search?q=DPYS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613326	http://www.informatics.jax.org/searchtool/Search.do?query=DPYS&submit=Quick%0D%9032ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPYS	rs2959023	0.636182	0.7125	0.6383	1	0	0	UTR5	UTR5	UTR5	DPYS(NM_001385:c.-1T>C)	DPYS(uc003yly.4:c.-1T>C)	ENSG00000147647(ENST00000351513:c.-1T>C,ENST00000521573:c.-1T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	142;24|9	Hom;A>G	525;0|18
N	N	-	8	106573578	106573578	C	T	snp	intronic	 	 	 	 	ZFPM2	Zfpm2	ENSG00000169946	zinc finger protein, FOG family member 2	chr8:106330920-106816760	The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]	Mental Competency; heart anomalies, congenital; Platelet Count; Aorta; Vascular Endothelial Growth Factor A; Heart Rate; Hip; Tobacco Use Disorder; Body Weights and Measures; Socioeconomic Factors; Erythrocyte Indices	Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003148;outflow tract septum morphogenesis;IMP|GO:0003221;right ventricular cardiac muscle tissue morphogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007506;gonadal mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045599;negative regulation of fat cell differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060548;negative regulation of cell death;IEA|GO:2000020;positive regulation of male gonad development;IEA|GO:2000195;negative regulation of female gonad development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001105;RNA polymerase II transcription coactivator activity;NAS|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFPM2		https://hpo.jax.org/app/browse/search?q=ZFPM2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603693	http://www.informatics.jax.org/searchtool/Search.do?query=ZFPM2&submit=Quick%0D%12601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFPM2	rs3735953	0.720248	0.6827	0.6367	1	0	0	intronic	intronic	intronic	ZFPM2	ZFPM2	ENSG00000169946	Na	Na	Na	Na	Na	Na	Het;C>T	941;49|44	Hom;C>T	3809;0|139
N	N	-	8	106792591	106792591	A	G	snp	ncRNA_exonic	 	 	 	 	ZFPM2-AS1																		rs1442324	0.595847	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ZFPM2	ZFPM2	ENSG00000251003	Na	Na	Na	Na	Na	Na	Het;A>G	111;6|5	Hom;A>G	766;0|24
N	N	-	8	106799175	106799175	C	G	snp	ncRNA_intronic	 	 	 	 	ZFPM2-AS1																		rs16873688	0.176118	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZFPM2-AS1	ZFPM2	ENSG00000251003	Na	Na	Na	Na	Na	Na	Het;C>G	151;5|5	Hom;C>G	143;0|4
N	N	-	8	106799669	106799669	T	C	snp	ncRNA_intronic	 	 	 	 	ZFPM2-AS1																		rs2304857	0.0493211	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZFPM2-AS1	ZFPM2	ENSG00000251003	Na	Na	Na	Na	Na	Na	Het;T>C	1099;61|48	Hom;T>C	2714;1|94
N	N	-	8	106799950	106799950	A	C	snp	ncRNA_intronic	 	 	 	 	ZFPM2-AS1																		rs16873692	0.0716853	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZFPM2-AS1	ZFPM2	ENSG00000251003	Na	Na	Na	Na	Na	Na	Het;A>C	89;12|4	Hom;A>C	810;0|22
N	N	-	8	106811255	106811255	G	A	snp	ncRNA_intronic	 	 	 	 	ZFPM2-AS1																		rs16873705	0.189896	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ZFPM2-AS1	ZFPM2	ENSG00000251003	Na	Na	Na	Na	Na	Na	Het;G>A	40;10|3	Hom;G>A	307;0|12
N	N	-	8	106813518	106813518	C	G	snp	nonsynonymous SNV	C1208G	A403G	aliphatic,hydrophobic,neutral	aliphatic,neutral	ZFPM2	Zfpm2	ENSG00000169946	zinc finger protein, FOG family member 2	chr8:106330920-106816760	The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]	Mental Competency; heart anomalies, congenital; Platelet Count; Aorta; Vascular Endothelial Growth Factor A; Heart Rate; Hip; Tobacco Use Disorder; Body Weights and Measures; Socioeconomic Factors; Erythrocyte Indices	Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development.	Factors involved in megakaryocyte development and platelet production	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003148;outflow tract septum morphogenesis;IMP|GO:0003221;right ventricular cardiac muscle tissue morphogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007506;gonadal mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045599;negative regulation of fat cell differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060548;negative regulation of cell death;IEA|GO:2000020;positive regulation of male gonad development;IEA|GO:2000195;negative regulation of female gonad development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA	GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001105;RNA polymerase II transcription coactivator activity;NAS|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFPM2		https://hpo.jax.org/app/browse/search?q=ZFPM2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603693	http://www.informatics.jax.org/searchtool/Search.do?query=ZFPM2&submit=Quick%0D%12601ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFPM2	rs11993776	0.193291	0.1790	0.1146	0.23	3	13	exonic	exonic	exonic	ZFPM2	ZFPM2	ENSG00000169946	nonsynonymous SNV	nonsynonymous SNV	unknown	ZFPM2:NM_012082:exon8:c.C1208G:p.A403G,	ZFPM2:uc011lhs.2:exon6:c.C401G:p.A134G,ZFPM2:uc003ymd.3:exon8:c.C1208G:p.A403G,	UNKNOWN	Het;C>G	1729;73|75	Hom;C>G	4086;0|139
N	N	-	8	107602279	107602279	A	T	snp	ncRNA_intronic	 	 	 	 	AC090579.1																		rs3134123	0.355232	0	0	1	0	0	intronic	intronic	ncRNA_intronic	OXR1	OXR1	ENSG00000253582	Na	Na	Na	Na	Na	Na	Het;A>T	128;4|4	Hom;A>T	537;0|12
N	N	-	8	107602302	107602302	G	A	snp	ncRNA_intronic	 	 	 	 	AC090579.1																		rs3134122	0.356629	0	0	1	0	0	intronic	intronic	ncRNA_intronic	OXR1	OXR1	ENSG00000253582	Na	Na	Na	Na	Na	Na	Het;G>A	119;7|4	Hom;G>A	688;0|18
N	N	-	8	107602366	107602366	G	A	snp	ncRNA_intronic	 	 	 	 	AC090579.1																		rs56063590	0.396565	0	0	1	0	0	intronic	intronic	ncRNA_intronic	OXR1	OXR1	ENSG00000253582	Na	Na	Na	Na	Na	Na	Het;G>A	185;13|11	Hom;G>A	887;1|36
N	N	-	8	107670141	107670141	G	A	snp	UTR5	-74G>A	 	 	 	OXR1	Oxr1	ENSG00000164830	oxidation resistance 1	chr8:107282473-107764922		Acquired Immunodeficiency Syndrome|Disease Progression; Body Mass Index; Forced Expiratory Volume	Homozygous mutation of this gene results in progressive cerebellar neurodegeneration and ataxia, increased apoptosis in the cerebellar granule cell layer, and premature death.		GO:0006979;response to oxidative stress;NAS|GO:0007628;adult walking behavior;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071447;cellular response to hydroperoxide;IEA|GO:1900408;negative regulation of cellular response to oxidative stress;IEA|GO:1902083;negative regulation of peptidyl-cysteine S-nitrosylation;IEA|GO:1903204;negative regulation of oxidative stress-induced neuron death;IEA	GO:0005575;cellular_component;ND|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA	GO:0003674;molecular_function;ND|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OXR1			https://www.ncbi.nlm.nih.gov/omim/?term=605609	http://www.informatics.jax.org/searchtool/Search.do?query=OXR1&submit=Quick%0D%11401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OXR1	rs2282510	0.295128	0	0	1	0	0	UTR5	UTR5	UTR5	OXR1(NM_181354:c.-74G>A)	OXR1(uc011lhu.2:c.-74G>A,uc003ymi.1:c.-21341G>A)	ENSG00000164830(ENST00000435082:c.-74G>A,ENST00000312046:c.-74G>A,ENST00000438229:c.-74G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	119;1|6	Hom;G>A	198;0|7
N	N	-	8	107710044	107710044	T	A	snp	ncRNA_exonic	 	 	 	 	TAGLN2P1																		rs2627788	0.61881	0	0	1	0	0	intronic	intronic	ncRNA_exonic	OXR1	OXR1	ENSG00000253676	Na	Na	Na	Na	Na	Na	Het;T>A	808;26|39	Hom;T>A	1758;1|66
N	N	-	8	107932415	107932415	C	A	snp	intergenic	 	 	 	 	ABRA	Abra	ENSG00000174429	actin binding Rho activating protein	chr8:107771711-107782473		Lipoprotein(a); Echocardiography; Cholesterol, LDL; Intercellular Adhesion Molecule-1; Cholesterol; Body Mass Index; Lipoproteins, VLDL; Macular Degeneration	Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion.		GO:0000060;protein import into nucleus, translocation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA	GO:0003779;actin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABRA			https://www.ncbi.nlm.nih.gov/omim/?term=609747	http://www.informatics.jax.org/searchtool/Search.do?query=ABRA&submit=Quick%0D%13518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABRA	rs4512354	0.705871	0	0	1	0	0	intergenic	intergenic	intergenic	ABRA(dist=149943),ANGPT1(dist=329295)	ABRA(dist=149943),ANGPT1(dist=329295)	ENSG00000174429(dist=149942),ENSG00000254146(dist=253013)	Na	Na	Na	Na	Na	Na	Het;C>A	113;15|8	Hom;C>A	353;0|14
N	N	-	8	108759918	108759918	G	T	snp	intergenic	 	 	 	 	PGAM1P13																		rs2043695	0.35643	0	0	1	0	0	intergenic	intergenic	intergenic	ANGPT1(dist=249664),RSPO2(dist=151626)	ANGPT1(dist=249664),RSPO2(dist=151626)	ENSG00000248838(dist=99658),ENSG00000200806(dist=136804)	Na	Na	Na	Na	Na	Na	Het;G>T	642;67|34	Hom;G>T	3768;2|142
N	N	-	8	108809266	108809266	G	A	snp	intergenic	 	 	 	 	PGAM1P13																		rs1353303	0.205471	0	0	1	0	0	intergenic	intergenic	intergenic	ANGPT1(dist=299012),RSPO2(dist=102278)	ANGPT1(dist=299012),RSPO2(dist=102278)	ENSG00000248838(dist=149006),ENSG00000200806(dist=87456)	Na	Na	Na	Na	Na	Na	Het;G>A	186;24|12	Hom;G>A	1159;0|47
N	N	-	8	109215368	109215368	T	C	snp	intronic	 	 	 	 	EIF3E	Eif3e	ENSG00000104408	eukaryotic translation initiation factor 3 subunit E	chr8:109213445-109447562		Dupuytren Contracture; Blood Coagulation Factors	Mice homozygous for a null allele exhibit prenatal lethality with reduced embryo size, cell size and fetal membranes. Mice heterozygous for a null allele exhibit reduced size, weight, MEF cell proliferation and MEF translation.	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP|GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;NAS|GO:0045727;positive regulation of translation;IPI|GO:0045947;negative regulation of translational initiation;NAS|GO:1902416;positive regulation of mRNA binding;IPI	GO:0000785;chromatin;NAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016020;membrane;IDA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3E	https://www.uniprot.org/uniprot/P60228		https://www.ncbi.nlm.nih.gov/omim/?term=602210	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3E&submit=Quick%0D%3118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3E	rs630492	0.494409	0.4849	0.4829	1	0	0	intronic	intronic	intronic	EIF3E	EIF3E	ENSG00000104408	Na	Na	Na	Na	Na	Na	Het;T>C	171;15|9	Hom;T>C	761;0|28
N	N	-	8	109229529	109229530	TA	T	indel	intronic	 	 	 	 	EIF3E	Eif3e	ENSG00000104408	eukaryotic translation initiation factor 3 subunit E	chr8:109213445-109447562		Dupuytren Contracture; Blood Coagulation Factors	Mice homozygous for a null allele exhibit prenatal lethality with reduced embryo size, cell size and fetal membranes. Mice heterozygous for a null allele exhibit reduced size, weight, MEF cell proliferation and MEF translation.	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP|GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;NAS|GO:0045727;positive regulation of translation;IPI|GO:0045947;negative regulation of translational initiation;NAS|GO:1902416;positive regulation of mRNA binding;IPI	GO:0000785;chromatin;NAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016020;membrane;IDA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3E	https://www.uniprot.org/uniprot/P60228		https://www.ncbi.nlm.nih.gov/omim/?term=602210	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3E&submit=Quick%0D%3118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3E	rs11358208	0.529353	0	0.5750	1	0	0	intronic	intronic	intronic	EIF3E	EIF3E	ENSG00000104408	Na	Na	Na	Na	Na	Na	Het;-A	208;10|13	Hom;-A	610;0|28
N	N	-	8	109253929	109253929	T	A	snp	intronic	 	 	 	 	EIF3E	Eif3e	ENSG00000104408	eukaryotic translation initiation factor 3 subunit E	chr8:109213445-109447562		Dupuytren Contracture; Blood Coagulation Factors	Mice homozygous for a null allele exhibit prenatal lethality with reduced embryo size, cell size and fetal membranes. Mice heterozygous for a null allele exhibit reduced size, weight, MEF cell proliferation and MEF translation.	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP|GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;NAS|GO:0045727;positive regulation of translation;IPI|GO:0045947;negative regulation of translational initiation;NAS|GO:1902416;positive regulation of mRNA binding;IPI	GO:0000785;chromatin;NAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016020;membrane;IDA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3E	https://www.uniprot.org/uniprot/P60228		https://www.ncbi.nlm.nih.gov/omim/?term=602210	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3E&submit=Quick%0D%3118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3E	rs589347	0.576677	0	0	1	0	0	intronic	intronic	intronic	EIF3E	EIF3E	ENSG00000104408	Na	Na	Na	Na	Na	Na	Het;T>A	209;8|9	Hom;T>A	489;0|15
N	N	-	8	109254003	109254003	T	C	snp	intronic	 	 	 	 	EIF3E	Eif3e	ENSG00000104408	eukaryotic translation initiation factor 3 subunit E	chr8:109213445-109447562		Dupuytren Contracture; Blood Coagulation Factors	Mice homozygous for a null allele exhibit prenatal lethality with reduced embryo size, cell size and fetal membranes. Mice heterozygous for a null allele exhibit reduced size, weight, MEF cell proliferation and MEF translation.	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP|GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;NAS|GO:0045727;positive regulation of translation;IPI|GO:0045947;negative regulation of translational initiation;NAS|GO:1902416;positive regulation of mRNA binding;IPI	GO:0000785;chromatin;NAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016020;membrane;IDA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3E	https://www.uniprot.org/uniprot/P60228		https://www.ncbi.nlm.nih.gov/omim/?term=602210	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3E&submit=Quick%0D%3118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3E	rs667742	0.550919	0.5799	0.5721	1	0	0	intronic	intronic	intronic	EIF3E	EIF3E	ENSG00000104408	Na	Na	Na	Na	Na	Na	Het;T>C	789;51|34	Hom;T>C	1671;0|58
N	N	-	8	109260776	109260776	A	G	snp	intronic	 	 	 	 	EIF3E	Eif3e	ENSG00000104408	eukaryotic translation initiation factor 3 subunit E	chr8:109213445-109447562		Dupuytren Contracture; Blood Coagulation Factors	Mice homozygous for a null allele exhibit prenatal lethality with reduced embryo size, cell size and fetal membranes. Mice heterozygous for a null allele exhibit reduced size, weight, MEF cell proliferation and MEF translation.	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP|GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;NAS|GO:0045727;positive regulation of translation;IPI|GO:0045947;negative regulation of translational initiation;NAS|GO:1902416;positive regulation of mRNA binding;IPI	GO:0000785;chromatin;NAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016020;membrane;IDA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0047485;protein N-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3E	https://www.uniprot.org/uniprot/P60228		https://www.ncbi.nlm.nih.gov/omim/?term=602210	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3E&submit=Quick%0D%3118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3E	rs4735053	0.551118	0	0	1	0	0	intronic	intronic	intronic	EIF3E	EIF3E	ENSG00000104408	Na	Na	Na	Na	Na	Na	Het;A>G	635;21|27	Hom;A>G	1225;0|39
N	N	-	8	110358242	110358242	G	C	snp	downstream	 	 	 	 	ENY2	Eny2	ENSG00000120533	ENY2, transcription and export complex 2 subunit	chr8:110346553-110358182			 	HATs acetylate histones	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006368;transcription elongation from RNA polymerase II promoter;IEA|GO:0006406;mRNA export from nucleus;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016578;histone deubiquitination;IDA|GO:0016973;poly(A)+ mRNA export from nucleus;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051028;mRNA transport;IEA|GO:0061179;negative regulation of insulin secretion involved in cellular response to glucose stimulus;IEA	GO:0000124;SAGA complex;IDA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0070390;transcription export complex 2;IEA|GO:0071819;DUBm complex;IBA	GO:0003682;chromatin binding;IBA|GO:0003713;transcription coactivator activity;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ENY2	https://www.uniprot.org/uniprot/Q9NPA8			http://www.informatics.jax.org/searchtool/Search.do?query=ENY2&submit=Quick%0D%5217ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENY2	rs2980582	0.640375	0	0	1	0	0	downstream	downstream	downstream	ENY2	ENY2	ENSG00000120533	Na	Na	Na	Na	Na	Na	Het;G>C	253;6|9	Hom;G>C	793;0|23
N	N	-	8	111936072	111936072	A	AGG	indel	intergenic	 	 	 	 	NDUFB9P3																		rs138467149	0	0	0	1	0	0	intergenic	intergenic	intergenic	KCNV1(dist=949113),LOC101927459(dist=13847)	KCNV1(dist=947996),CSMD3(dist=1299087)	ENSG00000253994(dist=113949),ENSG00000254241(dist=9420)	Na	Na	Na	Na	Na	Na	Het;+GG	112;9|5	Hom;+GG	340;0|11
N	N	-	8	112015783	112015783	A	G	snp	ncRNA_intronic	 	 	 	 	LOC101927459																		rs6469338	0.894768	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927459	KCNV1(dist=1027707),CSMD3(dist=1219376)	ENSG00000253877	Na	Na	Na	Na	Na	Na	Het;A>G	841;32|36	Hom;A>G	2156;0|83
N	N	-	8	112016926	112016926	T	G	snp	ncRNA_exonic	 	 	 	 	LOC101927459																		rs11779737	0.919928	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC101927459	KCNV1(dist=1028850),CSMD3(dist=1218233)	ENSG00000253877	Na	Na	Na	Na	Na	Na	Het;T>G	1529;50|65	Hom;T>G	3453;0|129
N	N	-	8	113254070	113254072	TGC	T	indel	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs371891542	0	0	0	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;-GC	267;11|8	Hom;-GC	1364;0|35
N	N	-	8	113267771	113267771	T	C	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs1861753	0.281749	0	0	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;T>C	201;7|8	Hom;T>C	234;0|8
N	N	-	8	113301548	113301548	A	G	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs1861755	0.237819	0.1752	0.2483	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;A>G	559;10|24	Hom;A>G	1198;0|41
N	N	-	8	113301936	113301936	T	A	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs6415459	0.237819	0	0	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;T>A	31;2|2	Hom;T>A	183;0|6
N	N	-	8	113308243	113308243	A	G	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs4876462	0.408746	0.4173	0.4625	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;A>G	1085;43|48	Hom;A>G	2772;0|96
N	N	-	8	113363350	113363350	T	C	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs7003308	0.372404	0.3380	0	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;T>C	463;9|20	Hom;T>C	1127;0|40
N	N	-	8	113363511	113363511	T	C	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs7003500	0.372204	0.3733	0.4474	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;T>C	762;51|38	Hom;T>C	1860;0|66
N	N	-	8	113364574	113364574	T	C	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs11775013	0.248602	0	0	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;T>C	80;11|4	Hom;T>C	296;0|9
N	N	-	8	113364696	113364696	A	G	snp	synonymous SNV	T5892C	Y1964Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs11778209	0.2502	0.1760	0.2513	1	0	0	exonic	exonic	exonic	CSMD3	CSMD3	ENSG00000164796	synonymous SNV	synonymous SNV	unknown	CSMD3:NM_198124:exon40:c.T6084C:p.Y2028Y,CSMD3:NM_198123:exon39:c.T6204C:p.Y2068Y,CSMD3:NM_052900:exon38:c.T5892C:p.Y1964Y,	CSMD3:uc011lhx.2:exon38:c.T5892C:p.Y1964Y,CSMD3:uc003ynu.3:exon39:c.T6204C:p.Y2068Y,CSMD3:uc003ynt.3:exon40:c.T6084C:p.Y2028Y,CSMD3:uc003yns.3:exon24:c.T3810C:p.Y1270Y,	UNKNOWN	Het;A>G	885;41|41	Hom;A>G	2416;0|87
N	N	-	8	113485014	113485014	A	C	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs11783041	0.271765	0	0	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;A>C	115;14|6	Hom;A>C	682;0|21
N	N	-	8	113516209	113516209	G	A	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs10955625	0.64976	0	0.6043	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;G>A	848;6|39	Hom;G>A	1036;4|43
N	N	-	8	113585637	113585637	A	G	snp	intronic	 	 	 	 	CSMD3	Csmd3	ENSG00000164796	CUB and Sushi multiple domains 3	chr8:113235157-114449328		Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus	 		GO:0050773;regulation of dendrite development;ISS	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CSMD3			https://www.ncbi.nlm.nih.gov/omim/?term=608399	http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3	rs7014796	0.404952	0	0	1	0	0	intronic	intronic	intronic	CSMD3	CSMD3	ENSG00000164796	Na	Na	Na	Na	Na	Na	Het;A>G	246;9|10	Hom;A>G	309;0|9
N	N	-	8	11438865	11438865	T	TA	indel	downstream	 	 	 	 	LINC00208																		rs34754673	0.793131	0	0	1	0	0	downstream	downstream	downstream	LINC00208	LINC00208	ENSG00000170983	Na	Na	Na	Na	Na	Na	Het;+A	144;1|7	Hom;+A	49;0|3
N	N	-	8	115049071	115049071	G	C	snp	intergenic	 	 	 	 	Y_RNA																		rs7838068	0.371605	0	0	1	0	0	intergenic	intergenic	intergenic	CSMD3(dist=599829),TRPS1(dist=1371653)	CSMD3(dist=599829),TRPS1(dist=1371653)	ENSG00000206719(dist=85844),ENSG00000254339(dist=245225)	Na	Na	Na	Na	Na	Na	Het;G>C	227;11|11	Hom;G>C	1144;0|41
N	N	-	8	115499105	115499106	CT	C	indel	intergenic	 	 	 	 	AC025881.1																		rs34727246	0.272364	0	0	1	0	0	intergenic	intergenic	intergenic	CSMD3(dist=1049863),TRPS1(dist=921618)	CSMD3(dist=1049863),TRPS1(dist=921618)	ENSG00000253499(dist=167965),ENSG00000253756(dist=304776)	Na	Na	Na	Na	Na	Na	Het;-T	389;29|21	Hom;-T	1297;0|49
N	N	-	8	12036012	12036012	A	G	snp	ncRNA_exonic	 	 	 	 	FAM90A2P																		rs146804151	0.366613	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	FAM90A2P(dist=1236),FAM86B1(dist=3601)	LOC100506990	ENSG00000205879	Na	Na	Na	Na	Na	Na	Het;A>G	1716;3|42	Hom;A>G	1932;0|43
N	N	-	8	12036013	12036013	C	T	snp	ncRNA_exonic	 	 	 	 	FAM90A2P																		rs139401270	0.366613	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	FAM90A2P(dist=1237),FAM86B1(dist=3600)	LOC100506990	ENSG00000205879	Na	Na	Na	Na	Na	Na	Het;C>T	1716;3|42	Hom;C>T	1932;0|44
N	N	-	8	120602914	120602914	C	T	snp	intronic	 	 	 	 	ENPP2	Enpp2	ENSG00000136960	ectonucleotide pyrophosphatase/phosphodiesterase 2	chr8:120569326-120685693	The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]	Tobacco Use Disorder; Body Height	Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development.	Vitamin B5 (pantothenate) metabolism	GO:0006629;lipid metabolic process;IEA|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IDA|GO:0010634;positive regulation of epithelial cell migration;IGI|GO:0016042;lipid catabolic process;IEA|GO:0030334;regulation of cell migration;IDA|GO:0034638;phosphatidylcholine catabolic process;IDA|GO:0045765;regulation of angiogenesis;IEA|GO:0048870;cell motility;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IGI	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004528;phosphodiesterase I activity;TAS|GO:0004551;nucleotide diphosphatase activity;TAS|GO:0004622;lysophospholipase activity;IDA|GO:0005044;scavenger receptor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008134;transcription factor binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030247;polysaccharide binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047391;alkylglycerophosphoethanolamine phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENPP2	https://www.uniprot.org/uniprot/Q13822		https://www.ncbi.nlm.nih.gov/omim/?term=601060	http://www.informatics.jax.org/searchtool/Search.do?query=ENPP2&submit=Quick%0D%7453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPP2	rs935360	0.640375	0.5622	0.5378	1	0	0	intronic	intronic	intronic	ENPP2	ENPP2	ENSG00000136960	Na	Na	Na	Na	Na	Na	Het;C>T	762;29|35	Hom;C>T	3303;0|75
N	N	-	8	120613747	120613747	C	T	snp	intronic	 	 	 	 	ENPP2	Enpp2	ENSG00000136960	ectonucleotide pyrophosphatase/phosphodiesterase 2	chr8:120569326-120685693	The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]	Tobacco Use Disorder; Body Height	Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development.	Vitamin B5 (pantothenate) metabolism	GO:0006629;lipid metabolic process;IEA|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IDA|GO:0010634;positive regulation of epithelial cell migration;IGI|GO:0016042;lipid catabolic process;IEA|GO:0030334;regulation of cell migration;IDA|GO:0034638;phosphatidylcholine catabolic process;IDA|GO:0045765;regulation of angiogenesis;IEA|GO:0048870;cell motility;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IGI	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004528;phosphodiesterase I activity;TAS|GO:0004551;nucleotide diphosphatase activity;TAS|GO:0004622;lysophospholipase activity;IDA|GO:0005044;scavenger receptor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008134;transcription factor binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030247;polysaccharide binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047391;alkylglycerophosphoethanolamine phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENPP2	https://www.uniprot.org/uniprot/Q13822		https://www.ncbi.nlm.nih.gov/omim/?term=601060	http://www.informatics.jax.org/searchtool/Search.do?query=ENPP2&submit=Quick%0D%7453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPP2	rs2289888	0.586861	0.5019	0.5244	1	0	0	intronic	intronic	intronic	ENPP2	ENPP2	ENSG00000136960	Na	Na	Na	Na	Na	Na	Het;C>T	800;28|36	Hom;C>T	1373;0|54
N	N	-	8	120613822	120613822	C	T	snp	intronic	 	 	 	 	ENPP2	Enpp2	ENSG00000136960	ectonucleotide pyrophosphatase/phosphodiesterase 2	chr8:120569326-120685693	The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]	Tobacco Use Disorder; Body Height	Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development.	Vitamin B5 (pantothenate) metabolism	GO:0006629;lipid metabolic process;IEA|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IDA|GO:0010634;positive regulation of epithelial cell migration;IGI|GO:0016042;lipid catabolic process;IEA|GO:0030334;regulation of cell migration;IDA|GO:0034638;phosphatidylcholine catabolic process;IDA|GO:0045765;regulation of angiogenesis;IEA|GO:0048870;cell motility;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IGI	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004528;phosphodiesterase I activity;TAS|GO:0004551;nucleotide diphosphatase activity;TAS|GO:0004622;lysophospholipase activity;IDA|GO:0005044;scavenger receptor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008134;transcription factor binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030247;polysaccharide binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047391;alkylglycerophosphoethanolamine phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENPP2	https://www.uniprot.org/uniprot/Q13822		https://www.ncbi.nlm.nih.gov/omim/?term=601060	http://www.informatics.jax.org/searchtool/Search.do?query=ENPP2&submit=Quick%0D%7453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPP2	rs2289889	0.58726	0	0	1	0	0	intronic	intronic	intronic	ENPP2	ENPP2	ENSG00000136960	Na	Na	Na	Na	Na	Na	Het;C>T	207;15|10	Hom;C>T	512;0|15
N	N	-	8	12142478	12142478	G	A	snp	ncRNA_intronic	 	 	 	 	LOC100506990																		rs71509194	0.648163	0	0	1	0	0	intergenic	ncRNA_intronic	intergenic	FAM86B1(dist=90854),LOC100133267(dist=25993)	LOC100506990	ENSG00000254527(dist=78580),ENSG00000237215(dist=5102)	Na	Na	Na	Na	Na	Na	Het;G>A	53;2|4	Hom;G>A	107;0|5
N	N	-	8	121780766	121780766	T	C	snp	ncRNA_intronic	 	 	 	 	AK057448																		rs4407923	0.91873	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927543	AK057448	ENSG00000248318	Na	Na	Na	Na	Na	Na	Het;T>C	36;3|2	Hom;T>C	300;0|9
N	N	-	8	122373430	122373430	A	AT	indel	intergenic	 	 	 	 	ENSG00000221644																		rs78708797	0.195288	0	0	1	0	0	intergenic	intergenic	intergenic	SNTB1(dist=549121),HAS2(dist=251841)	SNTB1(dist=549121),HAS2(dist=251841)	ENSG00000221644(dist=174298),ENSG00000239872(dist=18947)	Na	Na	Na	Na	Na	Na	Het;+T	113;5|6	Hom;+T	217;0|9
N	N	-	8	12346057	12346057	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100506990																		rs199969426	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100506990	LOC100506990	ENSG00000255549	Na	Na	Na	Na	Na	Na	Het;C>T	116;8|4	Hom;C>T	152;0|4
N	N	-	8	12346066	12346066	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100506990																		rs184648522	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100506990	LOC100506990	ENSG00000255549	Na	Na	Na	Na	Na	Na	Het;C>T	119;5|4	Hom;C>T	152;0|4
N	N	-	8	12449614	12449614	A	G	snp	ncRNA_intronic	 	 	 	 	LOC729732																		rs62496566	0	0	0	1	0	0	ncRNA_intronic	intergenic	intergenic	LOC729732	AX747590(dist=10816),LOC729732(dist=2865)	ENSG00000255122(dist=11042),ENSG00000244289(dist=36371)	Na	Na	Na	Na	Na	Na	Het;A>G	425;7|16	Hom;A>G	429;2|21
N	N	-	8	124659121	124659121	C	T	snp	ncRNA_intronic	 	 	 	 	AC090193.1																		rs1122389	0.17472	0.2296	0.2172	1	0	0	intronic	intronic	ncRNA_intronic	KLHL38	KLHL38	ENSG00000253286	Na	Na	Na	Na	Na	Na	Het;C>T	1312;36|60	Hom;C>T	2112;5|81
N	N	-	8	124696867	124696867	C	T	snp	nonsynonymous SNV	G814A	V272I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ANXA13	Anxa13	ENSG00000104537	annexin A13	chr8:124693034-124749647	This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Stroke; Pancreatic Neoplasms; smoking cessation; Prostatic Neoplasms	 		GO:0030154;cell differentiation;NAS	GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005544;calcium-dependent phospholipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANXA13	https://www.uniprot.org/uniprot/P27216		https://www.ncbi.nlm.nih.gov/omim/?term=602573	http://www.informatics.jax.org/searchtool/Search.do?query=ANXA13&submit=Quick%0D%3138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA13	rs2294015	0.696086	0.6821	0.6241	0.08	1	13	exonic	exonic	exonic	ANXA13	ANXA13	ENSG00000104537	nonsynonymous SNV	nonsynonymous SNV	unknown	ANXA13:NM_004306:exon10:c.G814A:p.V272I,ANXA13:NM_001003954:exon11:c.G937A:p.V313I,	ANXA13:uc003yqt.3:exon11:c.G937A:p.V313I,ANXA13:uc003yqu.3:exon10:c.G814A:p.V272I,	UNKNOWN	Het;C>T	261;40|18	Hom;C>T	1074;1|41
N	N	-	8	125916303	125916303	A	C	snp	ncRNA_intronic	 	 	 	 	LINC00964																		rs7841783	0.526757	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR4662B(dist=82003),LINC00964(dist=37947)	MTSS1(dist=175573),DQ589437(dist=12058)	ENSG00000249816	Na	Na	Na	Na	Na	Na	Het;A>C	84;4|5	Hom;A>C	380;0|15
N	N	-	8	125933052	125933052	T	C	snp	ncRNA_exonic	 	 	 	 	AC100858.1																		rs17395997	0.539537	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	MIR4662B(dist=98752),LINC00964(dist=21198)	DQ589437(dist=4657),DQ572100(dist=1235)	ENSG00000250428	Na	Na	Na	Na	Na	Na	Het;T>C	372;21|19	Hom;T>C	1750;0|69
N	N	-	8	125934693	125934693	T	C	snp	upstream	 	 	 	 	DQ572100																		rs16900090	0.275359	0	0	1	0	0	intergenic	upstream	ncRNA_intronic	MIR4662B(dist=100393),LINC00964(dist=19557)	DQ572100	ENSG00000249816	Na	Na	Na	Na	Na	Na	Het;T>C	36;12|3	Hom;T>C	259;0|11
N	N	-	8	126068873	126068873	T	G	snp	intronic	 	 	 	 	KIAA0196	E430025E21Rik																	rs2303523	0.0700879	0.0658	0.0827	1	0	0	intronic	intronic	intronic	KIAA0196	KIAA0196	ENSG00000164961	Na	Na	Na	Na	Na	Na	Het;T>G	471;20|22	Hom;T>G	931;1|34
N	N	-	8	126079697	126079697	C	G	snp	intronic	 	 	 	 	KIAA0196	E430025E21Rik																	rs10283187	0.066893	0	0	1	0	0	intronic	intronic	intronic	KIAA0196	KIAA0196	ENSG00000164961	Na	Na	Na	Na	Na	Na	Het;C>G	74;4|3	Hom;C>G	267;0|7
N	N	-	8	126445537	126445537	C	T	snp	intronic	 	 	 	 	TRIB1	Trib1	ENSG00000173334	tribbles pseudokinase 1	chr8:126442563-126450647		Dyslipidemias|Hypertriglyceridemia; Metabolic Syndrome X; lipid concentrations; Crohn Disease; triglycerides; Hypertriglyceridemia; Alanine Transaminase; lipid profiles; Cholesterol, total; Myocardial Infarction|Myocardial ischemia; Cholesterol; Type 2 diabetes; Lipid Metabolism Disorders; Eosinophils; Heart Rate; Pancreatic Neoplasms; Adiponectin; Hemoglobin A, Glycosylated; Myocardial Infarction; Cholesterol, HDL; LDL cholesterol; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Triglycerides; Cholesterol, LDL; Alkaline Phosphatase; Cardiovascular Diseases; Body Height; Lipids; Fredrickson hyperlipoproteinemia	Macrophages from mice homozygous for a knock-out allele exhibit impaired IL12 response to LPS, MALP-1, or CpG DNA.		GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0007254;JNK cascade;IMP|GO:0014912;negative regulation of smooth muscle cell migration;IMP|GO:0031665;negative regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;ISS|GO:0032496;response to lipopolysaccharide;IMP|GO:0043405;regulation of MAP kinase activity;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0045645;positive regulation of eosinophil differentiation;IEA|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045659;negative regulation of neutrophil differentiation;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0004672;protein kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008134;transcription factor binding;IPI|GO:0031434;mitogen-activated protein kinase kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;ISS|GO:0055106;ubiquitin-protein transferase regulator activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TRIB1			https://www.ncbi.nlm.nih.gov/omim/?term=609461	http://www.informatics.jax.org/searchtool/Search.do?query=TRIB1&submit=Quick%0D%13338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIB1	rs2235110	0.493411	0.3708	0.3785	1	0	0	intronic	intronic	intronic	TRIB1	TRIB1	ENSG00000173334	Na	Na	Na	Na	Na	Na	Het;C>T	1064;30|28	Hom;C>T	2561;0|57
N	N	-	8	126445544	126445544	C	A	snp	intronic	 	 	 	 	TRIB1	Trib1	ENSG00000173334	tribbles pseudokinase 1	chr8:126442563-126450647		Dyslipidemias|Hypertriglyceridemia; Metabolic Syndrome X; lipid concentrations; Crohn Disease; triglycerides; Hypertriglyceridemia; Alanine Transaminase; lipid profiles; Cholesterol, total; Myocardial Infarction|Myocardial ischemia; Cholesterol; Type 2 diabetes; Lipid Metabolism Disorders; Eosinophils; Heart Rate; Pancreatic Neoplasms; Adiponectin; Hemoglobin A, Glycosylated; Myocardial Infarction; Cholesterol, HDL; LDL cholesterol; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Triglycerides; Cholesterol, LDL; Alkaline Phosphatase; Cardiovascular Diseases; Body Height; Lipids; Fredrickson hyperlipoproteinemia	Macrophages from mice homozygous for a knock-out allele exhibit impaired IL12 response to LPS, MALP-1, or CpG DNA.		GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IMP|GO:0007254;JNK cascade;IMP|GO:0014912;negative regulation of smooth muscle cell migration;IMP|GO:0031665;negative regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;ISS|GO:0032496;response to lipopolysaccharide;IMP|GO:0043405;regulation of MAP kinase activity;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0045645;positive regulation of eosinophil differentiation;IEA|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045659;negative regulation of neutrophil differentiation;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0004672;protein kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008134;transcription factor binding;IPI|GO:0031434;mitogen-activated protein kinase kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;ISS|GO:0055106;ubiquitin-protein transferase regulator activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TRIB1			https://www.ncbi.nlm.nih.gov/omim/?term=609461	http://www.informatics.jax.org/searchtool/Search.do?query=TRIB1&submit=Quick%0D%13338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIB1	rs2235109	0.503594	0.3700	0.3734	1	0	0	intronic	intronic	intronic	TRIB1	TRIB1	ENSG00000173334	Na	Na	Na	Na	Na	Na	Het;C>A	1045;31|29	Hom;C>A	2727;0|64
N	N	-	8	126963335	126963335	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00861																		rs28680214	0.215655	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00861	LINC00861	ENSG00000245164	Na	Na	Na	Na	Na	Na	Het;G>A	1676;97|76	Hom;G>A	2991;2|113
N	N	-	8	126963476	126963476	G	C	snp	ncRNA_exonic	 	 	 	 	LINC00861																		rs28361528	0.215655	0	0	1	0	0	upstream	upstream	ncRNA_exonic	LINC00861	LINC00861	ENSG00000245164	Na	Na	Na	Na	Na	Na	Het;G>C	520;38|24	Hom;G>C	1396;0|50
N	N	-	8	127263368	127263368	T	C	snp	intergenic	 	 	 	 	RFPL4AP5																		rs4871680	0.580871	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00861(dist=299927),LOC101927657(dist=74372)	LINC00861(dist=299927),FAM84B(dist=301315)	ENSG00000248720(dist=76110),ENSG00000244791(dist=74372)	Na	Na	Na	Na	Na	Na	Het;T>C	537;42|31	Hom;T>C	1767;0|67
N	N	-	8	127391600	127391600	G	A	snp	intergenic	 	 	 	 	AC087667.1																		rs10956307	0.610224	0	0	1	0	0	intergenic	intergenic	intergenic	LOC101927657(dist=49822),FAM84B(dist=173083)	LINC00861(dist=428159),FAM84B(dist=173083)	ENSG00000244791(dist=49820),ENSG00000253427(dist=94834)	Na	Na	Na	Na	Na	Na	Het;G>A	65;5|4	Hom;G>A	473;0|16
N	N	-	8	128026128	128026128	C	A	snp	ncRNA_intronic	 	 	 	 	PCAT1																		rs710885	0.725839	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	PCAT1	PCAT1	ENSG00000253438	Na	Na	Na	Na	Na	Na	Het;C>A	163;4|6	Hom;C>A	115;0|4
N	N	-	8	128032251	128032251	T	C	snp	ncRNA_exonic	 	 	 	 	PCAT1																		rs785003	0.748802	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	PCAT1	PCAT1	ENSG00000253438	Na	Na	Na	Na	Na	Na	Het;T>C	409;14|19	Hom;T>C	825;0|30
N	N	-	8	128095156	128095156	A	G	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs13252298	0.292532	0	0	1	0	0	ncRNA_exonic	intergenic	upstream	PRNCR1	PCAT1(dist=61897),JX003871(dist=102569)	ENSG00000253264	Na	Na	Na	Na	Na	Na	Het;A>G	1510;61|64	Hom;A>G	3752;0|129
N	N	-	8	128099242	128099242	C	A	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs13257371	0.343251	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	PRNCR1	PCAT1(dist=65983),JX003871(dist=98483)	ENSG00000224722	Na	Na	Na	Na	Na	Na	Het;C>A	723;26|33	Hom;C>A	1660;0|59
N	N	-	8	128100606	128100606	G	A	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs3857883	0.506789	0	0	1	0	0	ncRNA_exonic	intergenic	upstream	PRNCR1	PCAT1(dist=67347),JX003871(dist=97119)	ENSG00000224722	Na	Na	Na	Na	Na	Na	Het;G>A	541;59|28	Hom;G>A	1954;0|73
N	N	-	8	128100706	128100706	T	G	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs1456317	0.480431	0	0	1	0	0	ncRNA_exonic	intergenic	upstream	PRNCR1	PCAT1(dist=67447),JX003871(dist=97019)	ENSG00000224722	Na	Na	Na	Na	Na	Na	Het;T>G	349;31|16	Hom;T>G	965;0|24
N	N	-	8	128100848	128100848	A	T	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs1456316	0.506789	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	PRNCR1	PCAT1(dist=67589),JX003871(dist=96877)	ENSG00000224722(dist=1093),ENSG00000254166(dist=97032)	Na	Na	Na	Na	Na	Na	Het;A>T	1287;63|58	Hom;A>T	4613;0|168
N	N	-	8	128101331	128101331	A	G	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs62529913	0.516174	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	PRNCR1	PCAT1(dist=68072),JX003871(dist=96394)	ENSG00000224722(dist=1576),ENSG00000254166(dist=96549)	Na	Na	Na	Na	Na	Na	Het;A>G	1386;72|60	Hom;A>G	2740;0|92
N	N	-	8	128101343	128101343	G	A	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs11994653	0.507588	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	PRNCR1	PCAT1(dist=68084),JX003871(dist=96382)	ENSG00000224722(dist=1588),ENSG00000254166(dist=96537)	Na	Na	Na	Na	Na	Na	Het;G>A	2162;73|57	Hom;G>A	3725;0|85
N	N	-	8	128101352	128101352	C	T	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs62529914	0.507388	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	PRNCR1	PCAT1(dist=68093),JX003871(dist=96373)	ENSG00000224722(dist=1597),ENSG00000254166(dist=96528)	Na	Na	Na	Na	Na	Na	Het;C>T	2202;70|58	Hom;C>T	3885;0|90
N	N	-	8	128103979	128103979	T	C	snp	ncRNA_exonic	 	 	 	 	PRNCR1																		rs5013678	0.190695	0	0	1	0	0	ncRNA_exonic	intergenic	intergenic	PRNCR1	PCAT1(dist=70720),JX003871(dist=93746)	ENSG00000224722(dist=4224),ENSG00000254166(dist=93901)	Na	Na	Na	Na	Na	Na	Het;T>C	940;20|37	Hom;T>C	1970;0|62
N	N	-	8	129418532	129418532	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00824																		rs938646	0.488219	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00824	BC009730	ENSG00000254275	Na	Na	Na	Na	Na	Na	Het;C>T	1669;88|81	Hom;C>T	4895;0|176
N	N	-	8	129426566	129426566	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00824																		rs10103591	0.453874	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00824	BC009730	ENSG00000254275	Na	Na	Na	Na	Na	Na	Het;T>C	2335;81|108	Hom;T>C	4095;0|153
N	N	-	8	129572549	129572549	C	G	snp	ncRNA_exonic	 	 	 	 	LINC00824																		rs1476163	0.66853	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00824	BC014119	ENSG00000254275	Na	Na	Na	Na	Na	Na	Het;C>G	1137;55|52	Hom;C>G	3125;0|104
N	N	-	8	130741554	130741554	G	GT	indel	ncRNA_splicing	 	 	 	 	MTRF1LP2																		rs566036570	0.27496	0	0	1	0	0	intergenic	intergenic	ncRNA_splicing	CCDC26(dist=49069),GSDMC(dist=18888)	CCDC26(dist=376326),GSDMC(dist=18888)	ENSG00000224110(ENST00000506027:exon1:c.564+1G>GT)	Na	Na	Na	Na	Na	Na	Het;+T	176;5|9	Hom;+T	162;0|7
N	N	-	8	131812899	131812899	G	T	snp	intronic	 	 	 	 	ADCY8	Adcy8	ENSG00000155897	adenylate cyclase 8	chr8:131792547-132054672	Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]	Electrocardiography; Respiratory Function Tests; antipsychotic response | Weight Gain; Exercise Test; Myocardial Infarction; Tobacco Use Disorder; Narcolepsy; Alzheimer Disease	Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007611;learning or memory;TAS|GO:0007616;long-term memory;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0008294;calcium- and calmodulin-responsive adenylate cyclase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY8	https://www.uniprot.org/uniprot/P40145		https://www.ncbi.nlm.nih.gov/omim/?term=103070	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY8&submit=Quick%0D%9913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY8	rs263237	0.614417	0	0	1	0	0	intronic	intronic	intronic	ADCY8	ADCY8	ENSG00000155897	Na	Na	Na	Na	Na	Na	Het;G>T	730;39|35	Hom;G>T	1975;0|73
N	N	-	8	131916318	131916318	A	G	snp	intronic	 	 	 	 	ADCY8	Adcy8	ENSG00000155897	adenylate cyclase 8	chr8:131792547-132054672	Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]	Electrocardiography; Respiratory Function Tests; antipsychotic response | Weight Gain; Exercise Test; Myocardial Infarction; Tobacco Use Disorder; Narcolepsy; Alzheimer Disease	Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007611;learning or memory;TAS|GO:0007616;long-term memory;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0008294;calcium- and calmodulin-responsive adenylate cyclase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY8	https://www.uniprot.org/uniprot/P40145		https://www.ncbi.nlm.nih.gov/omim/?term=103070	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY8&submit=Quick%0D%9913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY8	rs11781997	0.4373	0.4626	0.5236	1	0	0	intronic	intronic	intronic	ADCY8	ADCY8	ENSG00000155897	Na	Na	Na	Na	Na	Na	Het;A>G	941;38|40	Hom;A>G	2227;1|81
N	N	-	8	131916374	131916375	AG	A	indel	intronic	 	 	 	 	ADCY8	Adcy8	ENSG00000155897	adenylate cyclase 8	chr8:131792547-132054672	Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]	Electrocardiography; Respiratory Function Tests; antipsychotic response | Weight Gain; Exercise Test; Myocardial Infarction; Tobacco Use Disorder; Narcolepsy; Alzheimer Disease	Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007611;learning or memory;TAS|GO:0007616;long-term memory;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0008294;calcium- and calmodulin-responsive adenylate cyclase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY8	https://www.uniprot.org/uniprot/P40145		https://www.ncbi.nlm.nih.gov/omim/?term=103070	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY8&submit=Quick%0D%9913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY8	rs76542596	0.4373	0	0	1	0	0	intronic	intronic	intronic	ADCY8	ADCY8	ENSG00000155897	Na	Na	Na	Na	Na	Na	Het;-G	340;5|12	Hom;-G	388;0|12
N	N	-	8	131921956	131921956	A	G	snp	synonymous SNV	T1638C	P546P	hydrophobic,neutral	hydrophobic,neutral	ADCY8	Adcy8	ENSG00000155897	adenylate cyclase 8	chr8:131792547-132054672	Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]	Electrocardiography; Respiratory Function Tests; antipsychotic response | Weight Gain; Exercise Test; Myocardial Infarction; Tobacco Use Disorder; Narcolepsy; Alzheimer Disease	Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007611;learning or memory;TAS|GO:0007616;long-term memory;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0008294;calcium- and calmodulin-responsive adenylate cyclase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY8	https://www.uniprot.org/uniprot/P40145		https://www.ncbi.nlm.nih.gov/omim/?term=103070	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY8&submit=Quick%0D%9913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY8	rs12547243	0.544728	0.5736	0.6348	1	0	0	exonic	exonic	exonic	ADCY8	ADCY8	ENSG00000155897	synonymous SNV	synonymous SNV	unknown	ADCY8:NM_001115:exon6:c.T1638C:p.P546P,	ADCY8:uc003ytd.4:exon6:c.T1638C:p.P546P,ADCY8:uc010mds.3:exon6:c.T1638C:p.P546P,	UNKNOWN	Het;A>G	1083;44|46	Hom;A>G	3133;0|113
N	N	-	8	131922186	131922186	C	CT	indel	intronic	 	 	 	 	ADCY8	Adcy8	ENSG00000155897	adenylate cyclase 8	chr8:131792547-132054672	Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]	Electrocardiography; Respiratory Function Tests; antipsychotic response | Weight Gain; Exercise Test; Myocardial Infarction; Tobacco Use Disorder; Narcolepsy; Alzheimer Disease	Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007611;learning or memory;TAS|GO:0007616;long-term memory;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0008294;calcium- and calmodulin-responsive adenylate cyclase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY8	https://www.uniprot.org/uniprot/P40145		https://www.ncbi.nlm.nih.gov/omim/?term=103070	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY8&submit=Quick%0D%9913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY8	rs71304398	0	0	0	1	0	0	intronic	intronic	intronic	ADCY8	ADCY8	ENSG00000155897	Na	Na	Na	Na	Na	Na	Het;+T	152;8|10	Hom;+T	335;2|18
N	N	-	8	131922223	131922223	G	T	snp	intronic	 	 	 	 	ADCY8	Adcy8	ENSG00000155897	adenylate cyclase 8	chr8:131792547-132054672	Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]	Electrocardiography; Respiratory Function Tests; antipsychotic response | Weight Gain; Exercise Test; Myocardial Infarction; Tobacco Use Disorder; Narcolepsy; Alzheimer Disease	Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).	Hedgehog 'off' state	GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007611;learning or memory;TAS|GO:0007616;long-term memory;IEA|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;IEA|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0008294;calcium- and calmodulin-responsive adenylate cyclase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCY8	https://www.uniprot.org/uniprot/P40145		https://www.ncbi.nlm.nih.gov/omim/?term=103070	http://www.informatics.jax.org/searchtool/Search.do?query=ADCY8&submit=Quick%0D%9913ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY8	rs56251739	0.4373	0	0	1	0	0	intronic	intronic	intronic	ADCY8	ADCY8	ENSG00000155897	Na	Na	Na	Na	Na	Na	Het;G>T	171;2|6	Hom;G>T	439;0|9
N	N	-	8	133047071	133047071	G	A	snp	synonymous SNV	C690T	H230H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	OC90	Oc90	ENSG00000253117	otoconin 90	chr8:133036467-133071627			Mice homozygous for a null allele exhibit reduced, enlarged, and loose otoliths, and thin cupula, saccule, utricle and tectorial membranes.		GO:0006644;phospholipid metabolic process;IEA|GO:0008150;biological_process;ND|GO:0016042;lipid catabolic process;IEA|GO:0050482;arachidonic acid secretion;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0003674;molecular_function;ND|GO:0004623;phospholipase A2 activity;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OC90			https://www.ncbi.nlm.nih.gov/omim/?term=601658	http://www.informatics.jax.org/searchtool/Search.do?query=OC90&submit=Quick%0D%20009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OC90	rs11779306	0.261382	0.2807	0.3125	1	0	0	exonic	exonic	exonic	OC90	OC90	ENSG00000253117,ENSG00000258417	synonymous SNV	synonymous SNV	unknown	OC90:NM_001080399:exon10:c.C690T:p.H230H,	OC90:uc003ytg.2:exon9:c.C690T:p.H230H,OC90:uc011lix.1:exon10:c.C690T:p.H230H,	UNKNOWN	Het;G>A	594;25|30	Hom;G>A	1182;0|46
N	N	-	8	133067315	133067315	G	A	snp	unknown	 	 	 	 	AC100868.1																		rs4736538	0.486621	0.5933	0.5745	0.11	1	9	UTR5	UTR5	exonic	OC90(NM_001080399:c.-42C>T)	OC90(uc011lix.1:c.-42C>T)	ENSG00000258417	Na	Na	unknown	Na	Na	UNKNOWN	Het;G>A	838;35|42	Hom;G>A	2190;0|86
N	N	-	8	133298510	133298510	G	A	snp	intronic	 	 	 	 	KCNQ3	Kcnq3	ENSG00000184156	potassium voltage-gated channel subfamily Q member 3	chr8:133133108-133493200	This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins	Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus.  Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.	Interaction between L1 and Ankyrins	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3		https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602232	http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3	rs13282321	0.429313	0	0	1	0	0	intronic	intronic	intronic	KCNQ3	KCNQ3	ENSG00000184156	Na	Na	Na	Na	Na	Na	Het;G>A	500;15|23	Hom;G>A	861;0|32
N	N	-	8	133634814	133634814	C	T	snp	intronic	 	 	 	 	LRRC6	Lrrc6	ENSG00000129295	leucine rich repeat containing 6	chr8:133584320-133687838	The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]	Primary ciliary diskinesia	Mice homozygous for a knock-out allele exhibit partial prenatal lethality, variable laterality defects, hydrocephaly, loss of motility in various motile cilia, absence of outer dynein arms in tracheal cilia, and premature death.		GO:0003341;cilium movement;IMP|GO:0008584;male gonad development;ISS|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0061458;reproductive system development;IMP|GO:0003341;cilium movement;IMP|GO:0008584;male gonad development;ISS|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0061458;reproductive system development;IMP	GO:0005737;cytoplasm;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRRC6	https://www.uniprot.org/uniprot/Q86X45	https://hpo.jax.org/app/browse/search?q=LRRC6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614930	http://www.informatics.jax.org/searchtool/Search.do?query=LRRC6&submit=Quick%0D%266ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC6	rs2272681	0.48143	0.5521	0.4153	1	0	0	intronic	intronic	intronic	LRRC6	LRRC6	ENSG00000129295	Na	Na	Na	Na	Na	Na	Het;C>T	118;13|7	Hom;C>T	561;0|22
N	N	-	8	133637659	133637659	G	A	snp	nonsynonymous SNV	C695T	T232I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	LRRC6	Lrrc6	ENSG00000129295	leucine rich repeat containing 6	chr8:133584320-133687838	The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]	Primary ciliary diskinesia	Mice homozygous for a knock-out allele exhibit partial prenatal lethality, variable laterality defects, hydrocephaly, loss of motility in various motile cilia, absence of outer dynein arms in tracheal cilia, and premature death.		GO:0003341;cilium movement;IMP|GO:0008584;male gonad development;ISS|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0061458;reproductive system development;IMP|GO:0003341;cilium movement;IMP|GO:0008584;male gonad development;ISS|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0061458;reproductive system development;IMP	GO:0005737;cytoplasm;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LRRC6	https://www.uniprot.org/uniprot/Q86X45	https://hpo.jax.org/app/browse/search?q=LRRC6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614930	http://www.informatics.jax.org/searchtool/Search.do?query=LRRC6&submit=Quick%0D%266ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC6	rs2293979	0.486222	0.5582	0.4191	0.08	1	13	exonic	exonic	exonic	LRRC6	LRRC6	ENSG00000129295	nonsynonymous SNV	nonsynonymous SNV	unknown	LRRC6:NM_012472:exon6:c.C695T:p.T232I,	LRRC6:uc022bbp.2:exon6:c.C695T:p.T232I,LRRC6:uc003ytk.4:exon6:c.C695T:p.T232I,	UNKNOWN	Het;G>A	731;59|36	Hom;G>A	2633;0|103
N	N	-	8	1337395	1337395	T	G	snp	intergenic	 	 	 	 	AF067845.1																		rs13277339	0.555911	0	0	1	0	0	intergenic	intergenic	intergenic	LOC286083(dist=86572),DLGAP2(dist=112137)	LOC286083(dist=86568),DLGAP2(dist=112137)	ENSG00000260721(dist=19396),ENSG00000198010(dist=112137)	Na	Na	Na	Na	Na	Na	Het;T>G	179;1|5	Hom;T>G	287;0|7
N	N	-	8	1337414	1337414	T	G	snp	intergenic	 	 	 	 	AF067845.1																		rs13277350	0.557308	0	0	1	0	0	intergenic	intergenic	intergenic	LOC286083(dist=86591),DLGAP2(dist=112118)	LOC286083(dist=86587),DLGAP2(dist=112118)	ENSG00000260721(dist=19415),ENSG00000198010(dist=112118)	Na	Na	Na	Na	Na	Na	Het;T>G	179;1|5	Hom;T>G	312;0|8
N	N	-	8	133880212	133880212	G	A	snp	intronic	 	 	 	 	TG	Tg	ENSG00000042832	thyroglobulin	chr8:133879203-134147147	Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]	Hypothyroidism|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Graves Disease|Thyroiditis, Autoimmune; Graves' disease; Graves disease; Celiac Disease|; Graves Disease; Thyroid Diseases; Graves' disease; thyroiditis, chronic lymphocytic; thyroid cancer; Graves Disease|Hashimoto Disease; congenital goiter and defective TG synthesis.; Tobacco Use Disorder; thyroiditis, chronic lymphocytic; autoimmune thyroid disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Hashimoto Disease; Autoimmune thyroiditis|Thyroiditis, Autoimmune; Tunica Media	Mice homozygous for a spontaneous mutation exhibit enlarged and abnormal thyroid gland, hypothyroidism, and decreased body weight with altered lymphotcyte numbers.		GO:0007165;signal transduction;NAS|GO:0015705;iodide transport;IEA|GO:0030878;thyroid gland development;IEP|GO:0031641;regulation of myelination;IEA|GO:0042403;thyroid hormone metabolic process;IEA|GO:0042446;hormone biosynthetic process;IEA	GO:0005576;extracellular region;IEA	GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TG	https://www.uniprot.org/uniprot/P01266	https://hpo.jax.org/app/browse/search?q=TG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188450	http://www.informatics.jax.org/searchtool/Search.do?query=TG&submit=Quick%0D%840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TG	rs180202	0.724042	0	0	1	0	0	intronic	intronic	intronic	TG	TG	ENSG00000042832	Na	Na	Na	Na	Na	Na	Het;G>A	34;2|2	Hom;G>A	98;0|4
N	N	-	8	134225068	134225068	T	C	snp	intronic	 	 	 	 	WISP1	Wisp1	ENSG00000104415	WNT1 inducible signaling pathway protein 1	chr8:134203282-134242587	This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]	colorectal cancer; Hypertension; Celiac Disease|; asthma; Narcolepsy; osteoarthritis; ovarian cancer; Bone Mineral Density; Magnesium; Tobacco Use Disorder	Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing.		GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0016055;Wnt signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005829;cytosol;IDA	GO:0005520;insulin-like growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WISP1	https://www.uniprot.org/uniprot/O95388		https://www.ncbi.nlm.nih.gov/omim/?term=603398	http://www.informatics.jax.org/searchtool/Search.do?query=WISP1&submit=Quick%0D%3121ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WISP1	rs10089461	0.489816	0.4625	0.5330	1	0	0	intronic	intronic	intronic	WISP1	WISP1	ENSG00000104415	Na	Na	Na	Na	Na	Na	Het;T>C	338;8|14	Hom;T>C	784;0|26
N	N	-	8	134237578	134237578	G	C	snp	intronic	 	 	 	 	WISP1	Wisp1	ENSG00000104415	WNT1 inducible signaling pathway protein 1	chr8:134203282-134242587	This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]	colorectal cancer; Hypertension; Celiac Disease|; asthma; Narcolepsy; osteoarthritis; ovarian cancer; Bone Mineral Density; Magnesium; Tobacco Use Disorder	Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing.		GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0016055;Wnt signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005829;cytosol;IDA	GO:0005520;insulin-like growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WISP1	https://www.uniprot.org/uniprot/O95388		https://www.ncbi.nlm.nih.gov/omim/?term=603398	http://www.informatics.jax.org/searchtool/Search.do?query=WISP1&submit=Quick%0D%3121ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WISP1	rs2280834	0.563698	0	0	1	0	0	intronic	intronic	intronic	WISP1	WISP1	ENSG00000104415	Na	Na	Na	Na	Na	Na	Het;G>C	142;11|7	Hom;G>C	359;0|11
N	N	-	8	134241137	134241137	G	A	snp	UTR3	*1184G>A	 	 	 	WISP1	Wisp1	ENSG00000104415	WNT1 inducible signaling pathway protein 1	chr8:134203282-134242587	This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]	colorectal cancer; Hypertension; Celiac Disease|; asthma; Narcolepsy; osteoarthritis; ovarian cancer; Bone Mineral Density; Magnesium; Tobacco Use Disorder	Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing.		GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0016055;Wnt signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005829;cytosol;IDA	GO:0005520;insulin-like growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WISP1	https://www.uniprot.org/uniprot/O95388		https://www.ncbi.nlm.nih.gov/omim/?term=603398	http://www.informatics.jax.org/searchtool/Search.do?query=WISP1&submit=Quick%0D%3121ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WISP1	rs2929970	0.555911	0	0	1	0	0	UTR3	UTR3	UTR3	WISP1(NM_080838:c.*1184G>A,NM_001204870:c.*1184G>A,NM_001204869:c.*1365G>A,NM_003882:c.*1184G>A)	WISP1(uc003yub.3:c.*1184G>A,uc003yuc.3:c.*1184G>A,uc010meb.3:c.*1184G>A,uc010mec.3:c.*1365G>A,uc010med.3:c.*1184G>A)	ENSG00000104415(ENST00000250160:c.*1184G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1430;96|68	Hom;G>A	3429;0|122
N	N	-	8	134242033	134242033	C	T	snp	UTR3	*2080C>T	 	 	 	WISP1	Wisp1	ENSG00000104415	WNT1 inducible signaling pathway protein 1	chr8:134203282-134242587	This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]	colorectal cancer; Hypertension; Celiac Disease|; asthma; Narcolepsy; osteoarthritis; ovarian cancer; Bone Mineral Density; Magnesium; Tobacco Use Disorder	Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing.		GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0016055;Wnt signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005829;cytosol;IDA	GO:0005520;insulin-like growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WISP1	https://www.uniprot.org/uniprot/O95388		https://www.ncbi.nlm.nih.gov/omim/?term=603398	http://www.informatics.jax.org/searchtool/Search.do?query=WISP1&submit=Quick%0D%3121ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WISP1	rs2977549	0.555112	0	0	1	0	0	UTR3	UTR3	UTR3	WISP1(NM_080838:c.*2080C>T,NM_001204870:c.*2080C>T,NM_001204869:c.*2261C>T,NM_003882:c.*2080C>T)	WISP1(uc003yub.3:c.*2080C>T,uc003yuc.3:c.*2080C>T,uc010meb.3:c.*2080C>T,uc010mec.3:c.*2261C>T,uc010med.3:c.*2080C>T)	ENSG00000104415(ENST00000250160:c.*2080C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1234;67|57	Hom;C>T	2466;2|93
N	N	-	8	134242455	134242455	G	A	snp	UTR3	*2502G>A	 	 	 	WISP1	Wisp1	ENSG00000104415	WNT1 inducible signaling pathway protein 1	chr8:134203282-134242587	This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]	colorectal cancer; Hypertension; Celiac Disease|; asthma; Narcolepsy; osteoarthritis; ovarian cancer; Bone Mineral Density; Magnesium; Tobacco Use Disorder	Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing.		GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0016055;Wnt signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005829;cytosol;IDA	GO:0005520;insulin-like growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WISP1	https://www.uniprot.org/uniprot/O95388		https://www.ncbi.nlm.nih.gov/omim/?term=603398	http://www.informatics.jax.org/searchtool/Search.do?query=WISP1&submit=Quick%0D%3121ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WISP1	rs2929972	0.55611	0	0	1	0	0	UTR3	UTR3	UTR3	WISP1(NM_080838:c.*2502G>A,NM_001204870:c.*2502G>A,NM_001204869:c.*2683G>A,NM_003882:c.*2502G>A)	WISP1(uc003yub.3:c.*2502G>A,uc003yuc.3:c.*2502G>A,uc010meb.3:c.*2502G>A,uc010mec.3:c.*2683G>A,uc010med.3:c.*2502G>A)	ENSG00000104415(ENST00000250160:c.*2502G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1095;34|49	Hom;G>A	2686;0|96
N	N	-	8	134243550	134243550	C	T	snp	UTR3	*3597C>T	 	 	 	WISP1	Wisp1	ENSG00000104415	WNT1 inducible signaling pathway protein 1	chr8:134203282-134242587	This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]	colorectal cancer; Hypertension; Celiac Disease|; asthma; Narcolepsy; osteoarthritis; ovarian cancer; Bone Mineral Density; Magnesium; Tobacco Use Disorder	Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing.		GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0016055;Wnt signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005829;cytosol;IDA	GO:0005520;insulin-like growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WISP1	https://www.uniprot.org/uniprot/O95388		https://www.ncbi.nlm.nih.gov/omim/?term=603398	http://www.informatics.jax.org/searchtool/Search.do?query=WISP1&submit=Quick%0D%3121ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WISP1	rs2977551	0.570088	0	0	1	0	0	UTR3	UTR3	downstream	WISP1(NM_080838:c.*3597C>T,NM_001204870:c.*3597C>T,NM_001204869:c.*3778C>T,NM_003882:c.*3597C>T)	WISP1(uc003yub.3:c.*3597C>T,uc003yuc.3:c.*3597C>T,uc010meb.3:c.*3597C>T,uc010mec.3:c.*3778C>T,uc010med.3:c.*3597C>T)	ENSG00000104415	Na	Na	Na	Na	Na	Na	Het;C>T	1411;93|67	Hom;C>T	3077;2|112
N	N	-	8	135490539	135490539	A	G	snp	UTR3	*186T>C	 	 	 	ZFAT	Zfat	ENSG00000066827	zinc finger and AT-hook domain containing	chr8:135490031-135725292	This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]	Waist Circumference; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; null; Body Height; Attention Deficit Disorder with Hyperactivity; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060712;spongiotrophoblast layer development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAT	https://www.uniprot.org/uniprot/Q9P243		https://www.ncbi.nlm.nih.gov/omim/?term=610931	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAT&submit=Quick%0D%1234ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAT	rs11538239	0.705072	0	0	1	0	0	UTR3	UTR3	UTR3	ZFAT(NM_001289394:c.*186T>C,NM_001174157:c.*186T>C,NM_001167583:c.*186T>C,NM_020863:c.*186T>C,NM_001174158:c.*186T>C,NM_001029939:c.*186T>C)	ZFAT(uc011ljj.2:c.*186T>C,uc003yun.3:c.*186T>C,uc003yuo.3:c.*186T>C,uc010meh.3:c.*186T>C,uc003yup.3:c.*186T>C,uc010mej.3:c.*186T>C,uc003yuq.3:c.*186T>C)	ENSG00000066827(ENST00000520356:c.*186T>C,ENST00000523243:c.*1087T>C,ENST00000523924:c.*3900T>C,ENST00000377838:c.*186T>C,ENST00000429442:c.*301T>C,ENST00000520727:c.*186T>C,ENST00000520214:c.*186T>C,ENST00000521673:c.*186T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	706;46|33	Hom;A>G	3283;0|115
N	N	-	8	135524938	135524938	T	C	snp	intronic	 	 	 	 	ZFAT	Zfat	ENSG00000066827	zinc finger and AT-hook domain containing	chr8:135490031-135725292	This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]	Waist Circumference; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; null; Body Height; Attention Deficit Disorder with Hyperactivity; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060712;spongiotrophoblast layer development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAT	https://www.uniprot.org/uniprot/Q9P243		https://www.ncbi.nlm.nih.gov/omim/?term=610931	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAT&submit=Quick%0D%1234ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAT	rs3739427	0.622204	0	0	1	0	0	intronic	intronic	intronic	ZFAT	ZFAT	ENSG00000066827	Na	Na	Na	Na	Na	Na	Het;T>C	334;9|11	Hom;T>C	671;0|18
N	N	-	8	135612595	135612595	A	G	snp	synonymous SNV	T2523C	S841S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZFAT	Zfat	ENSG00000066827	zinc finger and AT-hook domain containing	chr8:135490031-135725292	This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]	Waist Circumference; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; null; Body Height; Attention Deficit Disorder with Hyperactivity; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060712;spongiotrophoblast layer development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAT	https://www.uniprot.org/uniprot/Q9P243		https://www.ncbi.nlm.nih.gov/omim/?term=610931	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAT&submit=Quick%0D%1234ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAT	rs894343	0.783347	0.7314	0.7532	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ZFAT-AS1	ZFAT	ENSG00000248492	Na	synonymous SNV	Na	Na	ZFAT:uc003yur.3:exon7:c.T2523C:p.S841S,	Na	Het;A>G	1248;80|61	Hom;A>G	3235;0|120
N	N	-	8	135614705	135614705	A	G	snp	synonymous SNV	T1257C	R419R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ZFAT	Zfat	ENSG00000066827	zinc finger and AT-hook domain containing	chr8:135490031-135725292	This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]	Waist Circumference; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; null; Body Height; Attention Deficit Disorder with Hyperactivity; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060712;spongiotrophoblast layer development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFAT	https://www.uniprot.org/uniprot/Q9P243		https://www.ncbi.nlm.nih.gov/omim/?term=610931	http://www.informatics.jax.org/searchtool/Search.do?query=ZFAT&submit=Quick%0D%1234ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAT	rs3739423	0.796326	0.7459	0.7616	1	0	0	exonic	exonic	exonic	ZFAT	ZFAT	ENSG00000066827	synonymous SNV	synonymous SNV	unknown	ZFAT:NM_020863:exon6:c.T1257C:p.R419R,ZFAT:NM_001174157:exon5:c.T1071C:p.R357R,ZFAT:NM_001174158:exon6:c.T1221C:p.R407R,ZFAT:NM_001167583:exon6:c.T1221C:p.R407R,ZFAT:NM_001029939:exon7:c.T1221C:p.R407R,ZFAT:NM_001289394:exon7:c.T1221C:p.R407R,	ZFAT:uc003yup.3:exon6:c.T1257C:p.R419R,ZFAT:uc003yur.3:exon6:c.T1221C:p.R407R,ZFAT:uc010mej.3:exon5:c.T1071C:p.R357R,ZFAT:uc003yun.3:exon7:c.T1221C:p.R407R,ZFAT:uc003yuq.3:exon7:c.T1221C:p.R407R,ZFAT:uc003yuo.3:exon6:c.T1221C:p.R407R,ZFAT:uc010meh.3:exon6:c.T1221C:p.R407R,	UNKNOWN	Het;A>G	2160;96|90	Hom;A>G	4486;0|159
N	N	-	8	136411960	136411960	G	A	snp	intergenic	 	 	 	 	LINC01591																		rs1318565	0.126198	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01591(dist=99998),KHDRBS3(dist=57748)	NONE(dist=NONE),KHDRBS3(dist=57756)	ENSG00000254083(dist=99998),ENSG00000254372(dist=56148)	Na	Na	Na	Na	Na	Na	Het;G>A	1516;69|73	Hom;G>A	2623;2|103
N	N	-	8	136412170	136412170	G	A	snp	intergenic	 	 	 	 	LINC01591																		rs10098801	0.128195	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01591(dist=100208),KHDRBS3(dist=57538)	NONE(dist=NONE),KHDRBS3(dist=57546)	ENSG00000254083(dist=100208),ENSG00000254372(dist=55938)	Na	Na	Na	Na	Na	Na	Het;G>A	366;5|10	Hom;G>A	197;0|5
N	N	-	8	136412175	136412175	A	G	snp	intergenic	 	 	 	 	LINC01591																		rs10087336	0.128195	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01591(dist=100213),KHDRBS3(dist=57533)	NONE(dist=NONE),KHDRBS3(dist=57541)	ENSG00000254083(dist=100213),ENSG00000254372(dist=55933)	Na	Na	Na	Na	Na	Na	Het;A>G	366;5|9	Hom;A>G	197;0|5
N	N	-	8	136809438	136809438	T	C	snp	intergenic	 	 	 	 	RNU1-35P																		rs11166616	0.46246	0	0	1	0	0	intergenic	intergenic	intergenic	KHDRBS3(dist=149586),LOC101927915(dist=1608906)	U1(dist=54700),NONE(dist=NONE)	ENSG00000199652(dist=54700),ENSG00000253248(dist=249826)	Na	Na	Na	Na	Na	Na	Het;T>C	197;34|13	Hom;T>C	942;1|36
N	N	-	8	137509472	137509472	C	T	snp	ncRNA_intronic	 	 	 	 	AC013546.1																		rs2932212	0.676717	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	KHDRBS3(dist=849620),LOC101927915(dist=908872)	U1(dist=754734),Mir_720(dist=1585699)	ENSG00000253839	Na	Na	Na	Na	Na	Na	Het;C>T	132;1|5	Hom;C>T	463;0|15
N	N	-	8	139768085	139768085	G	A	snp	intronic	 	 	 	 	COL22A1	Col22a1	ENSG00000169436	collagen type XXII alpha 1 chain	chr8:139600478-139926249	COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008]	Electrocardiography; Leukocyte Count; Echocardiography; Adiponectin; Parkinson Disease; Body Composition; Hemoglobins; Tobacco Use Disorder; Creatinine; Body Fat Distribution; Stroke; Alzheimer Disease; Dehydroepiandrosterone; Cardiovascular Diseases; Hemoglobin A, Glycosylated; serum creatinine; Cholesterol, HDL	 	Collagen chain trimerization		GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS		http://www.genecards.org/index.php?path=/Search/keyword/COL22A1			https://www.ncbi.nlm.nih.gov/omim/?term=610026	http://www.informatics.jax.org/searchtool/Search.do?query=COL22A1&submit=Quick%0D%12495ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL22A1	rs7825723	0.745008	0.6785	0.6935	1	0	0	intronic	intronic	intronic	COL22A1	COL22A1	ENSG00000169436	Na	Na	Na	Na	Na	Na	Het;G>A	664;32|33	Hom;G>A	1639;0|61
N	N	-	8	140630990	140630990	A	G	snp	synonymous SNV	T636C	G212G	aliphatic,neutral	aliphatic,neutral	KCNK9	Kcnk9	ENSG00000169427	potassium two pore domain channel subfamily K member 9	chr8:140613081-140715299	This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a null allele exhibit decreased pH sensitive action potential in serotonergic neurons.	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071804;cellular potassium ion transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;TAS|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNK9		https://hpo.jax.org/app/browse/search?q=KCNK9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605874	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK9&submit=Quick%0D%12491ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK9	rs2615374	0.723043	0.6995	0.6586	1	0	0	exonic	exonic	exonic	KCNK9	KCNK9	ENSG00000169427	synonymous SNV	synonymous SNV	unknown	KCNK9:NM_001282534:exon2:c.T636C:p.G212G,	KCNK9:uc003yvg.1:exon2:c.T636C:p.G212G,KCNK9:uc003yvf.1:exon2:c.T636C:p.G212G,	UNKNOWN	Het;A>G	1873;96|84	Hom;A>G	3694;1|135
N	N	-	8	142160829	142160829	T	G	snp	intronic	 	 	 	 	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs35212078	0.26877	0	0	1	0	0	intronic	intronic	intronic	DENND3	DENND3	ENSG00000105339	Na	Na	Na	Na	Na	Na	Het;T>G	136;7|5	Hom;T>G	373;0|11
N	N	-	8	142161064	142161064	C	T	snp	intronic	 	 	 	 	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs3816063	0.267372	0.3155	0.3067	1	0	0	intronic	intronic	intronic	DENND3	DENND3	ENSG00000105339	Na	Na	Na	Na	Na	Na	Het;C>T	976;89|55	Hom;C>T	3096;0|114
N	N	-	8	142173689	142173689	A	T	snp	intronic	 	 	 	 	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs2369612	0.201078	0	0	1	0	0	intronic	intronic	intronic	DENND3	DENND3	ENSG00000105339	Na	Na	Na	Na	Na	Na	Het;A>T	139;2|7	Hom;A>T	104;0|5
N	N	-	8	142176280	142176280	G	A	snp	intronic	 	 	 	 	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs2241735	0.205471	0.2038	0.2048	1	0	0	intronic	intronic	intronic	DENND3	DENND3	ENSG00000105339	Na	Na	Na	Na	Na	Na	Het;G>A	1005;55|44	Hom;G>A	1667;0|58
N	N	-	8	142185580	142185580	G	A	snp	nonsynonymous SNV	G1369A	G457S	aliphatic,neutral	polar,hydrophilic,neutral	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs12675070	0.28135	0.2867	0.2933	1	0	0	intronic	exonic	intronic	DENND3	DENND3	ENSG00000105339	Na	nonsynonymous SNV	Na	Na	DENND3:uc003yvz.1:exon6:c.G1369A:p.G457S,	Na	Het;G>A	751;8|32	Hom;G>A	656;0|23
N	N	-	8	142186963	142186963	G	A	snp	intronic	 	 	 	 	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs2241734	0.255192	0	0	1	0	0	intronic	intronic	intronic	DENND3	DENND3	ENSG00000105339	Na	Na	Na	Na	Na	Na	Het;G>A	109;2|4	Hom;G>A	329;0|10
N	N	-	8	142188039	142188039	C	T	snp	intronic	 	 	 	 	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs307731	0.396166	0	0	1	0	0	intronic	intronic	intronic	DENND3	DENND3	ENSG00000105339	Na	Na	Na	Na	Na	Na	Het;C>T	120;7|5	Hom;C>T	113;0|4
N	N	-	8	142191032	142191032	T	G	snp	intronic	 	 	 	 	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs2278448	0.279353	0	0	1	0	0	intronic	intronic	intronic	DENND3	DENND3	ENSG00000105339	Na	Na	Na	Na	Na	Na	Het;T>G	1116;35|46	Hom;T>G	1425;1|55
N	N	-	8	142235997	142235997	T	C	snp	intronic	 	 	 	 	SLC45A4	Slc45a4	ENSG00000022567	solute carrier family 45 member 4	chr8:142217265-142318404		Mental Disorders; Bipolar Disorder	 		GO:0006810;transport;IEA|GO:0015770;sucrose transport;ISS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008506;sucrose:proton symporter activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SLC45A4	https://www.uniprot.org/uniprot/Q5BKX6			http://www.informatics.jax.org/searchtool/Search.do?query=SLC45A4&submit=Quick%0D%674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC45A4	rs7001864	0.457069	0	0	1	0	0	intronic	intronic	intronic	SLC45A4	SLC45A4	ENSG00000022567	Na	Na	Na	Na	Na	Na	Het;T>C	36;2|2	Hom;T>C	71;0|4
N	N	-	8	142343406	142343406	G	A	snp	intergenic	 	 	 	 	AC011676.4																		rs11777684	0.373802	0	0	1	0	0	intergenic	intergenic	intergenic	SLC45A4(dist=78678),LINC01300(dist=7242)	SLC45A4(dist=79181),LOC731779(dist=7242)	ENSG00000254291(dist=6170),ENSG00000253595(dist=7242)	Na	Na	Na	Na	Na	Na	Het;G>A	39;4|3	Hom;G>A	300;0|10
N	N	-	8	142367335	142367335	T	C	snp	nonsynonymous SNV	A689G	H230R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	GPR20	Gpr20	ENSG00000275181	G protein-coupled receptor 20	chr8:142366600-142377367		Diabetes Mellitus, Type 2	 	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IBA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GPR20			https://www.ncbi.nlm.nih.gov/omim/?term=601908	http://www.informatics.jax.org/searchtool/Search.do?query=GPR20&submit=Quick%0D%21298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR20	rs10875472	0.756789	0.8264	0.7942	0.15	2	13	exonic	exonic	exonic	GPR20	GPR20	ENSG00000204882	nonsynonymous SNV	nonsynonymous SNV	unknown	GPR20:NM_005293:exon2:c.A689G:p.H230R,	GPR20:uc003ywf.3:exon2:c.A689G:p.H230R,GPR20:uc022bby.1:exon1:c.A689G:p.H230R,	UNKNOWN	Het;T>C	1692;79|75	Hom;T>C	3544;0|127
N	N	-	8	142367400	142367400	G	A	snp	synonymous SNV	C624T	P208P	hydrophobic,neutral	hydrophobic,neutral	GPR20	Gpr20	ENSG00000275181	G protein-coupled receptor 20	chr8:142366600-142377367		Diabetes Mellitus, Type 2	 	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IBA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GPR20			https://www.ncbi.nlm.nih.gov/omim/?term=601908	http://www.informatics.jax.org/searchtool/Search.do?query=GPR20&submit=Quick%0D%21298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR20	rs11167054	0.752796	0.8287	0.7846	1	0	0	exonic	exonic	exonic	GPR20	GPR20	ENSG00000204882	synonymous SNV	synonymous SNV	unknown	GPR20:NM_005293:exon2:c.C624T:p.P208P,	GPR20:uc003ywf.3:exon2:c.C624T:p.P208P,GPR20:uc022bby.1:exon1:c.C624T:p.P208P,	UNKNOWN	Het;G>A	1463;72|70	Hom;G>A	3379;0|124
N	N	-	8	142367559	142367559	G	A	snp	synonymous SNV	C465T	P155P	hydrophobic,neutral	hydrophobic,neutral	GPR20	Gpr20	ENSG00000275181	G protein-coupled receptor 20	chr8:142366600-142377367		Diabetes Mellitus, Type 2	 	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IBA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GPR20			https://www.ncbi.nlm.nih.gov/omim/?term=601908	http://www.informatics.jax.org/searchtool/Search.do?query=GPR20&submit=Quick%0D%21298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR20	rs11785629	0.601238	0.629	0.7083	1	0	0	exonic	exonic	exonic	GPR20	GPR20	ENSG00000204882	synonymous SNV	synonymous SNV	unknown	GPR20:NM_005293:exon2:c.C465T:p.P155P,	GPR20:uc003ywf.3:exon2:c.C465T:p.P155P,GPR20:uc022bby.1:exon1:c.C465T:p.P155P,	UNKNOWN	Het;G>A	937;48|42	Hom;G>A	2398;0|84
N	N	-	8	142368150	142368150	T	G	snp	intronic	 	 	 	 	GPR20	Gpr20	ENSG00000275181	G protein-coupled receptor 20	chr8:142366600-142377367		Diabetes Mellitus, Type 2	 	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IBA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GPR20			https://www.ncbi.nlm.nih.gov/omim/?term=601908	http://www.informatics.jax.org/searchtool/Search.do?query=GPR20&submit=Quick%0D%21298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR20	rs7388121	0.747204	0	0	1	0	0	intronic	intronic	intronic	GPR20	GPR20	ENSG00000204882	Na	Na	Na	Na	Na	Na	Het;T>G	131;3|4	Hom;T>G	267;0|7
N	N	-	8	142368156	142368156	T	A	snp	intronic	 	 	 	 	GPR20	Gpr20	ENSG00000275181	G protein-coupled receptor 20	chr8:142366600-142377367		Diabetes Mellitus, Type 2	 	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IBA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GPR20			https://www.ncbi.nlm.nih.gov/omim/?term=601908	http://www.informatics.jax.org/searchtool/Search.do?query=GPR20&submit=Quick%0D%21298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR20	rs7388122	0.747404	0	0	1	0	0	intronic	intronic	intronic	GPR20	GPR20	ENSG00000204882	Na	Na	Na	Na	Na	Na	Het;T>A	131;3|4	Hom;T>A	242;0|6
N	N	-	8	142443841	142443841	A	C	snp	upstream;downstream	 	 	 	 	ENSG00000271959																		rs6578182	0.516174	0	0	1	0	0	downstream	downstream	upstream;downstream	MROH5	MROH5	ENSG00000271959;ENSG00000226807	Na	Na	Na	Na	Na	Na	Het;A>C	40;2|2	Hom;A>C	102;0|4
N	N	-	8	142444526	142444526	G	C	snp	intronic	 	 	 	 	MROH5		ENSG00000282181	maestro heat like repeat family member 5	chr8:142443929-142517330		Hair Color; Breath Tests; Body Mass Index; Magnesium; Myocardial Infarction						http://www.genecards.org/index.php?path=/Search/keyword/MROH5				http://www.informatics.jax.org/searchtool/Search.do?query=MROH5&submit=Quick%0D%22428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH5	rs10104447	0.645567	0	0	1	0	0	intronic	intronic	intronic	MROH5	MROH5	ENSG00000226807	Na	Na	Na	Na	Na	Na	Het;G>C	102;9|4	Hom;G>C	471;1|15
N	N	-	8	142444780	142444780	G	C	snp	ncRNA_exonic	 	 	 	 	AC100803.3																		rs10104806	0.590655	0.6494	0	1	0	0	intronic	intronic	ncRNA_exonic	MROH5	MROH5	ENSG00000271959	Na	Na	Na	Na	Na	Na	Het;G>C	283;33|14	Hom;G>C	1622;0|48
N	N	-	8	142445062	142445062	T	TG	indel	ncRNA_exonic	 	 	 	 	AC100803.3																		rs35650977	0.65615	0	0.6427	1	0	0	intronic	intronic	ncRNA_exonic	MROH5	MROH5	ENSG00000271959	Na	Na	Na	Na	Na	Na	Het;+G	798;28|32	Hom;+G	1220;0|40
N	N	-	8	142458053	142458053	A	G	snp	splicing	2772+1T>C	 	 	 	MROH5		ENSG00000282181	maestro heat like repeat family member 5	chr8:142443929-142517330		Hair Color; Breath Tests; Body Mass Index; Magnesium; Myocardial Infarction						http://www.genecards.org/index.php?path=/Search/keyword/MROH5				http://www.informatics.jax.org/searchtool/Search.do?query=MROH5&submit=Quick%0D%22428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH5	rs6578185	0.346446	0.4082	0.4500	0.00	0	3	exonic	splicing	exonic	MROH5	MROH5(uc003ywi.2:exon22:c.2772+1T>C)	ENSG00000226807	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;A>G	734;23|32	Hom;A>G	1944;0|69
N	N	-	8	142460693	142460693	G	A	snp	intronic	 	 	 	 	MROH5		ENSG00000282181	maestro heat like repeat family member 5	chr8:142443929-142517330		Hair Color; Breath Tests; Body Mass Index; Magnesium; Myocardial Infarction						http://www.genecards.org/index.php?path=/Search/keyword/MROH5				http://www.informatics.jax.org/searchtool/Search.do?query=MROH5&submit=Quick%0D%22428ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH5	rs7836752	0.625399	0	0	1	0	0	intronic	intronic	intronic	MROH5	MROH5	ENSG00000226807	Na	Na	Na	Na	Na	Na	Het;G>A	103;10|5	Hom;G>A	457;0|16
N	N	-	8	143786835	143786835	A	G	snp	ncRNA_exonic	 	 	 	 	LOC100288181																		rs6471588	0.727236	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100288181	LOC100288181	ENSG00000253741	Na	Na	Na	Na	Na	Na	Het;A>G	613;37|31	Hom;A>G	2301;0|83
N	N	-	8	143957958	143957958	G	A	snp	intronic	 	 	 	 	CYP11B1	Cyp11b2	ENSG00000160882	cytochrome P450 family 11 subfamily B member 1	chr8:143953772-143961262	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]	11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility.	Endogenous sterols	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1		https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610613	http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1	rs12674916	0.602436	0	0	1	0	0	intronic	intronic	intronic	CYP11B1	CYP11B1	ENSG00000104499,ENSG00000160882	Na	Na	Na	Na	Na	Na	Het;G>A	214;11|10	Hom;G>A	839;2|23
N	N	-	8	143958427	143958427	C	T	snp	intronic	 	 	 	 	CYP11B1	Cyp11b2	ENSG00000160882	cytochrome P450 family 11 subfamily B member 1	chr8:143953772-143961262	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]	11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility.	Endogenous sterols	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1		https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610613	http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1	rs6387	0.563698	0.4845	0.5688	1	0	0	intronic	intronic	intronic	CYP11B1	CYP11B1	ENSG00000104499,ENSG00000160882	Na	Na	Na	Na	Na	Na	Het;C>T	1507;84|69	Hom;C>T	3016;2|110
N	N	-	8	143961005	143961005	T	C	snp	synonymous SNV	A225G	L75L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CYP11B1	Cyp11b2	ENSG00000160882	cytochrome P450 family 11 subfamily B member 1	chr8:143953772-143961262	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]	11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility.	Endogenous sterols	GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1		https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610613	http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1	rs6410	0.584065	0.5077	0.5724	1	0	0	exonic	exonic	exonic	CYP11B1	CYP11B1	ENSG00000160882	synonymous SNV	synonymous SNV	unknown	CYP11B1:NM_001026213:exon1:c.A225G:p.L75L,CYP11B1:NM_000497:exon1:c.A225G:p.L75L,	CYP11B1:uc003yxj.3:exon1:c.A225G:p.L75L,CYP11B1:uc010mey.3:exon1:c.A225G:p.L75L,CYP11B1:uc003yxi.3:exon1:c.A225G:p.L75L,	UNKNOWN	Het;T>C	1166;31|51	Hom;T>C	1802;0|61
N	N	-	8	144335327	144335330	ACAG	A	indel	UTR3	*1170_*1173delinsA	 	 	 	ZFP41	Zfp41	ENSG00000181638	ZFP41 zinc finger protein	chr8:144329280-144358573			 				GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP41				http://www.informatics.jax.org/searchtool/Search.do?query=ZFP41&submit=Quick%0D%14648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP41	rs56330502	0	0	0	1	0	0	UTR3	UTR3	UTR3	ZFP41(NM_001271156:c.*1170_*1173delinsA)	ZFP41(uc031tcm.1:c.*1170_*1173delinsA)	ENSG00000181638(ENST00000520584:c.*1170_*1173delinsA)	Na	Na	Na	Na	Na	Na	Het;-CAG	150;1|5	Hom;-CAG	63;0|3
N	N	-	8	144335331	144335344	TCAACTGCAGGCAC	T	indel	UTR3	*1174_*1187delinsT	 	 	 	ZFP41	Zfp41	ENSG00000181638	ZFP41 zinc finger protein	chr8:144329280-144358573			 				GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFP41				http://www.informatics.jax.org/searchtool/Search.do?query=ZFP41&submit=Quick%0D%14648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP41	rs55900712	0	0	0	1	0	0	UTR3	UTR3	UTR3	ZFP41(NM_001271156:c.*1174_*1187delinsT)	ZFP41(uc031tcm.1:c.*1174_*1187delinsT)	ENSG00000181638(ENST00000520584:c.*1174_*1187delinsT)	Na	Na	Na	Na	Na	Na	Het;-CAACTGCAGGCAC	150;1|5	Hom;-CAACTGCAGGCAC	63;0|3
N	N	-	8	144351394	144351394	A	G	snp	intronic	 	 	 	 	GLI4	 	ENSG00000250571	GLI family zinc finger 4	chr8:144349603-144359101			 		GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLI4			https://www.ncbi.nlm.nih.gov/omim/?term=165280	http://www.informatics.jax.org/searchtool/Search.do?query=GLI4&submit=Quick%0D%19970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI4	rs7819483	0.288538	0	0	1	0	0	intronic	intronic	intronic	GLI4	GLI4	ENSG00000250571,ENSG00000264668	Na	Na	Na	Na	Na	Na	Het;A>G	54;5|3	Hom;A>G	125;0|5
N	N	-	8	144357992	144357992	A	G	snp	intronic	 	 	 	 	GLI4	 	ENSG00000250571	GLI family zinc finger 4	chr8:144349603-144359101			 		GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0008150;biological_process;ND	GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLI4			https://www.ncbi.nlm.nih.gov/omim/?term=165280	http://www.informatics.jax.org/searchtool/Search.do?query=GLI4&submit=Quick%0D%19970ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI4	rs2293923	0.523562	0	0	1	0	0	intronic	intronic	intronic	GLI4	GLI4	ENSG00000250571,ENSG00000264668	Na	Na	Na	Na	Na	Na	Het;A>G	162;2|8	Hom;A>G	159;0|6
N	N	-	8	144483735	144483762	AGGGAGGGCAGAGGGGAGGGGAGGGGAG	A	indel	intergenic	 	 	 	 	RHPN1	Rhpn1	ENSG00000158106	rhophilin Rho GTPase binding protein 1	chr8:144451057-144466390			Homozygous null mice are albuminuric, show podocyte foot process effacement, thickening of the glomerular basement membrane, and focal segmental glomerulosclerosis lesions.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RHPN1			https://www.ncbi.nlm.nih.gov/omim/?term=601031	http://www.informatics.jax.org/searchtool/Search.do?query=RHPN1&submit=Quick%0D%10169ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN1	rs755121640	0	0	0	1	0	0	intergenic	intergenic	intergenic	RHPN1(dist=17345),MAFA-AS1(dist=16087)	RHPN1(dist=17345),MAFA(dist=26468)	ENSG00000158106(dist=17345),ENSG00000253931(dist=11157)	Na	Na	Na	Na	Na	Na	Het;-GGGAGGGCAGAGGGGAGGGGAGGGGAG	154;3|5	Hom;-GGGAGGGCAGAGGGGAGGGGAGGGGAG	194;0|6
N	N	-	8	144490273	144490273	C	A	snp	intergenic	 	 	 	 	RHPN1	Rhpn1	ENSG00000158106	rhophilin Rho GTPase binding protein 1	chr8:144451057-144466390			Homozygous null mice are albuminuric, show podocyte foot process effacement, thickening of the glomerular basement membrane, and focal segmental glomerulosclerosis lesions.	RHO GTPases Activate Rhotekin and Rhophilins	GO:0007165;signal transduction;IEA	GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RHPN1			https://www.ncbi.nlm.nih.gov/omim/?term=601031	http://www.informatics.jax.org/searchtool/Search.do?query=RHPN1&submit=Quick%0D%10169ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN1	rs13267017	0.420727	0	0	1	0	0	intergenic	intergenic	intergenic	RHPN1(dist=23883),MAFA-AS1(dist=9576)	RHPN1(dist=23883),MAFA(dist=19957)	ENSG00000158106(dist=23883),ENSG00000253931(dist=4646)	Na	Na	Na	Na	Na	Na	Het;C>A	104;6|6	Hom;C>A	313;0|11
N	N	-	8	144620183	144620183	T	C	snp	nonsynonymous SNV	A1354G	S452G	polar,hydrophilic,neutral	aliphatic,neutral	ZC3H3	Zc3h3	ENSG00000282684	zinc finger CCCH-type containing 3	chr8:144519825-144623623		Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 					http://www.genecards.org/index.php?path=/Search/keyword/ZC3H3				http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H3&submit=Quick%0D%22577ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H3	rs4874147	0.775958	0.7161	0.7479	0.15	2	13	exonic	exonic	exonic	ZC3H3	ZC3H3	ENSG00000014164	nonsynonymous SNV	nonsynonymous SNV	unknown	ZC3H3:NM_015117:exon2:c.A1354G:p.S452G,	ZC3H3:uc003yyd.2:exon2:c.A1354G:p.S452G,	UNKNOWN	Het;T>C	496;33|22	Hom;T>C	916;0|32
N	N	-	8	144653011	144653011	C	T	snp	intronic	 	 	 	 	MROH6	Mroh6	ENSG00000277781	maestro heat like repeat family member 6	chr8:144648357-144655141			 					http://www.genecards.org/index.php?path=/Search/keyword/MROH6				http://www.informatics.jax.org/searchtool/Search.do?query=MROH6&submit=Quick%0D%21901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH6	rs11777527	0.554912	0	0.6606	1	0	0	intronic	intronic	intronic	MROH6	MROH6	ENSG00000204839	Na	Na	Na	Na	Na	Na	Het;C>T	291;10|14	Hom;C>T	421;0|25
N	N	-	8	144671244	144671244	C	A	snp	synonymous SNV	G1008T	R336R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	EEF1D	Eef1d	ENSG00000273594	eukaryotic translation elongation factor 1 delta	chr8:144661867-144681711	This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]		 	Eukaryotic Translation Elongation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006412;translation;IEA|GO:0006414;translational elongation;TAS|GO:0007165;signal transduction;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071479;cellular response to ionizing radiation;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS|GO:0005853;eukaryotic translation elongation factor 1 complex;TAS	GO:0003677;DNA binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EEF1D	https://www.uniprot.org/uniprot/P29692		https://www.ncbi.nlm.nih.gov/omim/?term=130592	http://www.informatics.jax.org/searchtool/Search.do?query=EEF1D&submit=Quick%0D%20957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EEF1D	rs4874160	0.642572	0.7913	0.7623	1	0	0	exonic	exonic	exonic	EEF1D	EEF1D	ENSG00000104529	synonymous SNV	synonymous SNV	unknown	EEF1D:NM_032378:exon3:c.G1008T:p.R336R,EEF1D:NM_001130053:exon3:c.G1008T:p.R336R,	EEF1D:uc003yyr.3:exon3:c.G1008T:p.R336R,EEF1D:uc003yyp.2:exon1:c.G1008T:p.R336R,EEF1D:uc003yyq.2:exon1:c.G1158T:p.R386R,EEF1D:uc003yyt.3:exon3:c.G1008T:p.R336R,	UNKNOWN	Het;C>A	957;33|45	Hom;C>A	2065;0|73
N	N	-	8	144671922	144671922	G	A	snp	synonymous SNV	C330T	R110R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	EEF1D	Eef1d	ENSG00000273594	eukaryotic translation elongation factor 1 delta	chr8:144661867-144681711	This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]		 	Eukaryotic Translation Elongation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006412;translation;IEA|GO:0006414;translational elongation;TAS|GO:0007165;signal transduction;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071479;cellular response to ionizing radiation;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS|GO:0005853;eukaryotic translation elongation factor 1 complex;TAS	GO:0003677;DNA binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EEF1D	https://www.uniprot.org/uniprot/P29692		https://www.ncbi.nlm.nih.gov/omim/?term=130592	http://www.informatics.jax.org/searchtool/Search.do?query=EEF1D&submit=Quick%0D%20957ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EEF1D	rs3812448	0.639377	0.7356	0.7602	1	0	0	exonic	exonic	exonic	EEF1D	EEF1D	ENSG00000104529	synonymous SNV	synonymous SNV	unknown	EEF1D:NM_032378:exon3:c.C330T:p.R110R,EEF1D:NM_001130053:exon3:c.C330T:p.R110R,	EEF1D:uc003yyr.3:exon3:c.C330T:p.R110R,EEF1D:uc003yyp.2:exon1:c.C330T:p.R110R,EEF1D:uc003yyq.2:exon1:c.C480T:p.R160R,EEF1D:uc003yyt.3:exon3:c.C330T:p.R110R,	UNKNOWN	Het;G>A	1333;64|68	Hom;G>A	3819;1|150
N	N	-	8	144681777	144681777	G	T	snp	nonsynonymous SNV	G1704T	M568I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TIGD5	Tigd5	ENSG00000278016	tigger transposable element derived 5	chr8:144680074-144682485	The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]		 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIGD5				http://www.informatics.jax.org/searchtool/Search.do?query=TIGD5&submit=Quick%0D%21945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD5	rs10282929	0.59984	0.6938	0.7448	0.08	1	13	exonic	exonic	exonic	TIGD5	TIGD5	ENSG00000179886	nonsynonymous SNV	nonsynonymous SNV	unknown	TIGD5:NM_032862:exon1:c.G1704T:p.M568I,	TIGD5:uc003yyx.2:exon1:c.G1704T:p.M568I,	UNKNOWN	Het;G>T	1239;46|53	Hom;G>T	2015;1|73
N	N	-	8	144690886	144690886	A	C	snp	intronic	 	 	 	 	PYCRL	Pycrl																	rs10097337	0.520168	0	0	1	0	0	intronic	intronic	intronic	PYCRL	PYCRL	ENSG00000104524	Na	Na	Na	Na	Na	Na	Het;A>C	404;21|20	Hom;A>C	1485;0|49
N	N	-	8	144697041	144697041	A	G	snp	synonymous SNV	T306C	F102F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	TSTA3	Tsta3	ENSG00000278243	tissue specific transplantation antigen P35B	chr8:144694788-144700218	Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]		Homozygotes for a targeted null mutation frequently die in utero, while survivors are smaller than normal, show colon abnormalities, have reduced fertility, and frequently die before weaning. Heterozygotes also show some embryonic loss.	GDP-fucose biosynthesis	GO:0007159;leukocyte cell-cell adhesion;NAS|GO:0008152;metabolic process;IEA|GO:0009226;nucleotide-sugar biosynthetic process;IEA|GO:0019673;GDP-mannose metabolic process;IDA|GO:0042351;'de novo' GDP-L-fucose biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016853;isomerase activity;TAS|GO:0042356;GDP-4-dehydro-D-rhamnose reductase activity;TAS|GO:0042802;identical protein binding;IPI|GO:0050577;GDP-L-fucose synthase activity;TAS|GO:0050662;coenzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSTA3	https://www.uniprot.org/uniprot/Q13630		https://www.ncbi.nlm.nih.gov/omim/?term=137020	http://www.informatics.jax.org/searchtool/Search.do?query=TSTA3&submit=Quick%0D%21997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSTA3	rs1049832	0.332268	0.4762	0.5021	1	0	0	exonic	exonic	exonic	TSTA3	TSTA3	ENSG00000104522	synonymous SNV	synonymous SNV	unknown	TSTA3:NM_003313:exon4:c.T306C:p.F102F,	TSTA3:uc003yzb.2:exon4:c.T306C:p.F102F,TSTA3:uc003yza.2:exon4:c.T306C:p.F102F,TSTA3:uc011lko.1:exon4:c.T306C:p.F102F,	UNKNOWN	Het;A>G	1056;64|46	Hom;A>G	2647;0|88
N	N	-	8	144699601	144699601	G	A	snp	UTR5	-719C>T	 	 	 	TSTA3	Tsta3	ENSG00000278243	tissue specific transplantation antigen P35B	chr8:144694788-144700218	Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]		Homozygotes for a targeted null mutation frequently die in utero, while survivors are smaller than normal, show colon abnormalities, have reduced fertility, and frequently die before weaning. Heterozygotes also show some embryonic loss.	GDP-fucose biosynthesis	GO:0007159;leukocyte cell-cell adhesion;NAS|GO:0008152;metabolic process;IEA|GO:0009226;nucleotide-sugar biosynthetic process;IEA|GO:0019673;GDP-mannose metabolic process;IDA|GO:0042351;'de novo' GDP-L-fucose biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016853;isomerase activity;TAS|GO:0042356;GDP-4-dehydro-D-rhamnose reductase activity;TAS|GO:0042802;identical protein binding;IPI|GO:0050577;GDP-L-fucose synthase activity;TAS|GO:0050662;coenzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSTA3	https://www.uniprot.org/uniprot/Q13630		https://www.ncbi.nlm.nih.gov/omim/?term=137020	http://www.informatics.jax.org/searchtool/Search.do?query=TSTA3&submit=Quick%0D%21997ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSTA3	rs67210953	0.311701	0	0	1	0	0	intronic	UTR5	UTR5	TSTA3	TSTA3(uc003yza.2:c.-719C>T)	ENSG00000104522(ENST00000529064:c.-719C>T,ENST00000529048:c.-719C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	347;41|20	Hom;G>A	1570;0|61
N	N	-	8	144775871	144775871	C	A	snp	nonsynonymous SNV	C287A	P96H	hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	ZNF707	Zfp707	ENSG00000274352	zinc finger protein 707	chr8:144766622-144796068			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF707				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF707&submit=Quick%0D%21103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF707	rs6987308	0.548323	0.7579	0.7280	0.08	1	12	exonic	exonic	exonic	ZNF707	ZNF707	ENSG00000181135	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF707:NM_001100598:exon6:c.C287A:p.P96H,ZNF707:NM_001288806:exon6:c.C287A:p.P96H,ZNF707:NM_001288809:exon4:c.C179A:p.P60H,ZNF707:NM_001288807:exon6:c.C68A:p.P23H,ZNF707:NM_173831:exon7:c.C287A:p.P96H,ZNF707:NM_001288805:exon8:c.C287A:p.P96H,ZNF707:NM_001100599:exon5:c.C287A:p.P96H,ZNF707:NM_001288808:exon4:c.C179A:p.P60H,	ZNF707:uc003yzh.4:exon3:c.C68A:p.P23H,ZNF707:uc010mfh.3:exon6:c.C287A:p.P96H,ZNF707:uc003yzf.4:exon8:c.C287A:p.P96H,ZNF707:uc003yze.4:exon7:c.C287A:p.P96H,ZNF707:uc010mfi.3:exon5:c.C287A:p.P96H,	UNKNOWN	Het;C>A	713;38|35	Hom;C>A	1561;2|62
N	N	-	8	144776713	144776713	A	C	snp	UTR3	*13A>C	 	 	 	ZNF707	Zfp707	ENSG00000274352	zinc finger protein 707	chr8:144766622-144796068			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF707				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF707&submit=Quick%0D%21103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF707	rs7464270	0.547923	0.7615	0.7268	1	0	0	UTR3	UTR3	UTR3	ZNF707(NM_173831:c.*13A>C,NM_001100598:c.*13A>C,NM_001288809:c.*13A>C,NM_001288808:c.*13A>C,NM_001288807:c.*13A>C,NM_001100599:c.*13A>C,NM_001288806:c.*13A>C,NM_001288805:c.*13A>C)	ZNF707(uc003yze.4:c.*13A>C,uc010mfh.3:c.*13A>C,uc010mfi.3:c.*13A>C,uc003yzf.4:c.*13A>C,uc003yzh.4:c.*13A>C)	ENSG00000181135(ENST00000454097:c.*13A>C,ENST00000533031:c.*994A>C,ENST00000358656:c.*13A>C,ENST00000532158:c.*13A>C,ENST00000532205:c.*13A>C,ENST00000418203:c.*13A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	2087;91|98	Hom;A>C	3808;0|139
N	N	-	8	144777521	144777521	G	A	snp	UTR3	*821G>A	 	 	 	ZNF707	Zfp707	ENSG00000274352	zinc finger protein 707	chr8:144766622-144796068			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF707				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF707&submit=Quick%0D%21103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF707	rs11136316	0.547724	0	0	1	0	0	UTR3	UTR3	UTR3	ZNF707(NM_173831:c.*821G>A,NM_001100598:c.*821G>A,NM_001288809:c.*821G>A,NM_001288808:c.*821G>A,NM_001288807:c.*821G>A,NM_001100599:c.*821G>A,NM_001288806:c.*821G>A,NM_001288805:c.*821G>A)	ZNF707(uc003yze.4:c.*821G>A,uc010mfh.3:c.*821G>A,uc010mfi.3:c.*821G>A,uc003yzf.4:c.*821G>A,uc003yzh.4:c.*821G>A)	ENSG00000181135(ENST00000454097:c.*821G>A,ENST00000533031:c.*1802G>A,ENST00000358656:c.*821G>A,ENST00000532158:c.*821G>A,ENST00000532205:c.*821G>A,ENST00000418203:c.*821G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	774;39|35	Hom;G>A	2764;0|103
N	N	-	8	144873997	144873997	A	C	snp	intronic	 	 	 	 	SCRIB	Scrib	ENSG00000274287	scribbled planar cell polarity protein	chr8:144873090-144897549	This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	8Q24.3 DELETION-LIKE	Mice homozygous for a null allele display partial prenatal lethality. Mice homozygous for spontaneous or induced alleles exhibit craniofacial or neural tube defects.			GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0030054;cell junction;IDA		http://www.genecards.org/index.php?path=/Search/keyword/SCRIB			https://www.ncbi.nlm.nih.gov/omim/?term=607733	http://www.informatics.jax.org/searchtool/Search.do?query=SCRIB&submit=Quick%0D%21088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCRIB	rs6982642	0.998403	0	0.8755	1	0	0	intronic	intronic	intronic	SCRIB	SCRIB	ENSG00000180900	Na	Na	Na	Na	Na	Na	Het;A>C	239;3|12	Hom;A>C	446;0|15
N	N	-	8	144940779	144940779	G	A	snp	nonsynonymous SNV	C6643T	R2215C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	EPPK1	Eppk1	ENSG00000261150	epiplakin 1	chr8:144939497-144952632	The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]		Mice homozygous for a null allele exhbit normal skin morphology.  Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration.			GO:0005856;cytoskeleton;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0008092;cytoskeletal protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPPK1			https://www.ncbi.nlm.nih.gov/omim/?term=607553	http://www.informatics.jax.org/searchtool/Search.do?query=EPPK1&submit=Quick%0D%20399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPK1	rs11781942	0.0794728	0.1184	0.2392	0.22	2	9	exonic	exonic	exonic	EPPK1	EPPK1	ENSG00000227184	nonsynonymous SNV	nonsynonymous SNV	unknown	EPPK1:NM_031308:exon2:c.C6643T:p.R2215C,	EPPK1:uc003zaa.1:exon1:c.C6643T:p.R2215C,	UNKNOWN	Het;G>A	1345;70|62	Hom;G>A	3543;4|132
N	N	-	8	145004546	145004546	G	A	snp	intronic	 	 	 	 	PLEC	Plec	ENSG00000178209	plectin	chr8:144989321-145050902	Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]	Cholesterol, LDL; Platelet Count; Cholesterol	Targeted mutations of this gene result in neonatal death, skin blistering, impaired myofibril integrity, reduced hemidesmosome number, and disintegration of intercalated disks in the heart. Mice lacking isoform 1 are viable with no skin blistering but leukocyte recruitment to wounds is impaired.	Type I hemidesmosome assembly	GO:0031581;hemidesmosome assembly;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;NAS|GO:0005903;brush border;IEA|GO:0005925;focal adhesion;IDA|GO:0016528;sarcoplasm;ISS|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IDA|GO:0043034;costamere;TAS|GO:0043292;contractile fiber;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0008307;structural constituent of muscle;TAS|GO:0030506;ankyrin binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PLEC		https://hpo.jax.org/app/browse/search?q=PLEC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601282	http://www.informatics.jax.org/searchtool/Search.do?query=PLEC&submit=Quick%0D%14153ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEC	rs11780911	0.571885	0.6988	0.7411	1	0	0	intronic	intronic	intronic	PLEC	PLEC	ENSG00000178209	Na	Na	Na	Na	Na	Na	Het;G>A	1479;75|70	Hom;G>A	4108;1|149
N	N	-	8	145151665	145151667	TGG	T	indel	intronic	 	 	 	 	CYC1	Cyc1	ENSG00000179091	cytochrome c1	chr8:145149930-145152428	This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]	ovarian cancer; Acquired Immunodeficiency Syndrome|Disease Progression	 	Respiratory electron transport	GO:0006122;mitochondrial electron transport, ubiquinol to cytochrome c;TAS|GO:0033762;response to glucagon;IEA|GO:0042776;mitochondrial ATP synthesis coupled proton transport;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0005750;mitochondrial respiratory chain complex III;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0009055;electron carrier activity;IEA|GO:0020037;heme binding;IEA|GO:0045153;electron transporter, transferring electrons within CoQH2-cytochrome c reductase complex activity;IBA|GO:0045155;electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYC1		https://hpo.jax.org/app/browse/search?q=CYC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=123980	http://www.informatics.jax.org/searchtool/Search.do?query=CYC1&submit=Quick%0D%14289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYC1	rs200379271	0	0	0.8884	1	0	0	intronic	intronic	intronic	CYC1	CYC1	ENSG00000179091	Na	Na	Na	Na	Na	Na	Het;-GG	1193;38|35	Hom;-GG	1838;0|45
N	N	-	8	145151668	145151693	CAGTGGGCATGTGGAATACTTCTCCA	C	indel	intronic	 	 	 	 	CYC1	Cyc1	ENSG00000179091	cytochrome c1	chr8:145149930-145152428	This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]	ovarian cancer; Acquired Immunodeficiency Syndrome|Disease Progression	 	Respiratory electron transport	GO:0006122;mitochondrial electron transport, ubiquinol to cytochrome c;TAS|GO:0033762;response to glucagon;IEA|GO:0042776;mitochondrial ATP synthesis coupled proton transport;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0005750;mitochondrial respiratory chain complex III;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0009055;electron carrier activity;IEA|GO:0020037;heme binding;IEA|GO:0045153;electron transporter, transferring electrons within CoQH2-cytochrome c reductase complex activity;IBA|GO:0045155;electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYC1		https://hpo.jax.org/app/browse/search?q=CYC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=123980	http://www.informatics.jax.org/searchtool/Search.do?query=CYC1&submit=Quick%0D%14289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYC1	rs746032093	0	0.6830	0.8954	1	0	0	intronic	intronic	intronic	CYC1	CYC1	ENSG00000179091	Na	Na	Na	Na	Na	Na	Het;-AGTGGGCATGTGGAATACTTCTCCA	1190;36|35	Hom;-AGTGGGCATGTGGAATACTTCTCCA	1831;0|45
N	N	-	8	145159099	145159099	G	A	snp	UTR5	-443C>T	 	 	 	SHARPIN	Sharpin	ENSG00000179526	SHANK associated RH domain interactor	chr8:145153536-145163027		breast cancer 	Mutations in this gene produces chronic skin lesions.	Neurexins and neuroligins	GO:0007005;mitochondrion organization;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007420;brain development;IEA|GO:0008544;epidermis development;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0030262;apoptotic nuclear changes;IEA|GO:0031424;keratinization;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0051260;protein homooligomerization;IEA|GO:0097039;protein linear polyubiquitination;IDA|GO:2000348;regulation of CD40 signaling pathway;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0014069;postsynaptic density;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0045202;synapse;IEA|GO:0071797;LUBAC complex;IDA	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031593;polyubiquitin binding;IDA|GO:0032403;protein complex binding;IEA|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHARPIN			https://www.ncbi.nlm.nih.gov/omim/?term=611885	http://www.informatics.jax.org/searchtool/Search.do?query=SHARPIN&submit=Quick%0D%14349ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHARPIN	rs11136255	0.807308	0	0	1	0	0	UTR5	UTR5	UTR5	SHARPIN(NM_030974:c.-443C>T)	SHARPIN(uc003zba.3:c.-443C>T)	ENSG00000179526(ENST00000359551:c.-443C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1497;81|76	Hom;G>A	4130;0|159
N	N	-	8	145168824	145168824	T	C	snp	ncRNA_intronic	 	 	 	 	KIAA1875	 																	rs7836836	0.873602	0	0.9191	1	0	0	ncRNA_intronic	intronic	intronic	KIAA1875	KIAA1875	ENSG00000179698	Na	Na	Na	Na	Na	Na	Het;T>C	1414;60|65	Hom;T>C	3598;0|128
N	N	-	8	145171003	145171003	G	C	snp	nonsynonymous SNV	G1115C	R372P	polar,hydrophilic,charged(+)	hydrophobic,neutral	KIAA1875	 																	rs4977193	0.900759	0	0.9704	0.09	1	11	ncRNA_exonic	exonic	exonic	KIAA1875	KIAA1875	ENSG00000179698	Na	nonsynonymous SNV	unknown	Na	KIAA1875:uc011lkz.1:exon7:c.G1115C:p.R372P,	UNKNOWN	Het;G>C	483;37|23	Hom;G>C	1331;0|48
N	N	-	8	145247168	145247168	G	A	snp	intronic	 	 	 	 	MROH1	Mroh1	ENSG00000179832	maestro heat like repeat family member 1	chr8:145202919-145316843		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/MROH1				http://www.informatics.jax.org/searchtool/Search.do?query=MROH1&submit=Quick%0D%14388ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH1	rs6988451	0.426917	0.4129	0.4870	1	0	0	intronic	intronic	intronic	MROH1	MROH1	ENSG00000179832	Na	Na	Na	Na	Na	Na	Het;G>A	386;8|18	Hom;G>A	543;0|19
N	N	-	8	145501921	145501921	T	C	snp	intronic	 	 	 	 	BOP1	Bop1	ENSG00000261236	block of proliferation 1	chr8:145486055-145515082			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000448;cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000463;maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IMP|GO:0006364;rRNA processing;TAS|GO:0008283;cell proliferation;NAS|GO:0042254;ribosome biogenesis;IC|GO:0042273;ribosomal large subunit biogenesis;IEA|GO:0051726;regulation of cell cycle;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0070545;PeBoW complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BOP1			https://www.ncbi.nlm.nih.gov/omim/?term=610596	http://www.informatics.jax.org/searchtool/Search.do?query=BOP1&submit=Quick%0D%20402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOP1	rs67446140	0.500998	0	0	1	0	0	intronic	intronic	intronic	BOP1	BOP1	ENSG00000170727	Na	Na	Na	Na	Na	Na	Het;T>C	117;1|4	Hom;T>C	132;0|4
N	N	-	8	145501949	145501949	C	T	snp	intronic	 	 	 	 	BOP1	Bop1	ENSG00000261236	block of proliferation 1	chr8:145486055-145515082			 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000448;cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000463;maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IMP|GO:0006364;rRNA processing;TAS|GO:0008283;cell proliferation;NAS|GO:0042254;ribosome biogenesis;IC|GO:0042273;ribosomal large subunit biogenesis;IEA|GO:0051726;regulation of cell cycle;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0070545;PeBoW complex;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BOP1			https://www.ncbi.nlm.nih.gov/omim/?term=610596	http://www.informatics.jax.org/searchtool/Search.do?query=BOP1&submit=Quick%0D%20402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BOP1	rs67974605	0.509385	0	0	1	0	0	intronic	intronic	intronic	BOP1	BOP1	ENSG00000170727	Na	Na	Na	Na	Na	Na	Het;C>T	117;1|3	Hom;C>T	132;0|3
N	N	-	8	145577824	145577824	C	G	snp	UTR5	-5130C>G	 	 	 	SLC52A2	Slc52a2	ENSG00000185803	solute carrier family 52 member 2	chr8:145577795-145584932	This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]	BROWN-VIALETTO-VAN LAERE SYNDROME 2	 	Vitamin B2 (riboflavin) metabolism	GO:0006771;riboflavin metabolic process;TAS|GO:0006810;transport;IEA|GO:0032218;riboflavin transport;IEA|GO:0046718;viral entry into host cell;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0032217;riboflavin transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC52A2		https://hpo.jax.org/app/browse/search?q=SLC52A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607882	http://www.informatics.jax.org/searchtool/Search.do?query=SLC52A2&submit=Quick%0D%15492ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC52A2	rs880701	0.520168	0	0.5662	1	0	0	intronic	intronic	UTR5	TMEM249	TMEM249	ENSG00000185803(ENST00000524541:c.-5130C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	1956;39|50	Hom;C>G	3531;0|77
N	N	-	8	145577829	145577829	A	C	snp	UTR5	-5125A>C	 	 	 	SLC52A2	Slc52a2	ENSG00000185803	solute carrier family 52 member 2	chr8:145577795-145584932	This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]	BROWN-VIALETTO-VAN LAERE SYNDROME 2	 	Vitamin B2 (riboflavin) metabolism	GO:0006771;riboflavin metabolic process;TAS|GO:0006810;transport;IEA|GO:0032218;riboflavin transport;IEA|GO:0046718;viral entry into host cell;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0032217;riboflavin transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC52A2		https://hpo.jax.org/app/browse/search?q=SLC52A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607882	http://www.informatics.jax.org/searchtool/Search.do?query=SLC52A2&submit=Quick%0D%15492ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC52A2	rs880702	0.520168	0	0.5716	1	0	0	intronic	intronic	UTR5	TMEM249	TMEM249	ENSG00000185803(ENST00000524541:c.-5125A>C)	Na	Na	Na	Na	Na	Na	Het;A>C	1932;42|51	Hom;A>C	2339;2|78
N	N	-	8	145577999	145577999	T	A	snp	intronic	 	 	 	 	TMEM249	Gm8140	ENSG00000261587	transmembrane protein 249	chr8:145575878-145578574			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM249				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM249&submit=Quick%0D%20414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM249	rs2272664	0.532748	0	0.5497	1	0	0	intronic	intronic	intronic	TMEM249	TMEM249	ENSG00000185803,ENSG00000214597,ENSG00000271698	Na	Na	Na	Na	Na	Na	Het;T>A	1332;26|58	Hom;T>A	2165;0|77
N	N	-	8	145578296	145578296	A	G	snp	synonymous SNV	T132C	F44F	aromatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	TMEM249	Gm8140	ENSG00000261587	transmembrane protein 249	chr8:145575878-145578574			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM249				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM249&submit=Quick%0D%20414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM249	rs2272663	0.567692	0	0.5661	1	0	0	exonic	exonic	exonic	TMEM249	TMEM249	ENSG00000214597	synonymous SNV	synonymous SNV	unknown	TMEM249:NM_001280561:exon2:c.T132C:p.F44F,TMEM249:NM_001252404:exon1:c.T132C:p.F44F,TMEM249:NM_001252402:exon1:c.T132C:p.F44F,	TMEM249:uc011llb.2:exon1:c.T132C:p.F44F,TMEM249:uc003zby.4:exon2:c.T132C:p.F44F,TMEM249:uc010mfw.3:exon1:c.T132C:p.F44F,	UNKNOWN	Het;A>G	327;19|15	Hom;A>G	997;0|34
N	N	-	8	145579949	145579949	G	GGCCGCT	indel	intronic	 	 	 	 	FBXL6	Fbxl6	ENSG00000182325	F-box and leucine rich repeat protein 6	chr8:145579091-145583036	This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006508;proteolysis;TAS|GO:0016567;protein ubiquitination;IEA		GO:0004842;ubiquitin-protein transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FBXL6			https://www.ncbi.nlm.nih.gov/omim/?term=609076	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL6&submit=Quick%0D%14770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL6	rs782672664	0	0	0.2181	1	0	0	intronic	intronic	intronic	FBXL6	FBXL6	ENSG00000182325,ENSG00000185803	Na	Na	Na	Na	Na	Na	Het;+GCCGCT	1071;63|33	Hom;+GCCGCT	2361;0|62
N	N	-	8	145579951	145579951	A	ACC	indel	intronic	 	 	 	 	FBXL6	Fbxl6	ENSG00000182325	F-box and leucine rich repeat protein 6	chr8:145579091-145583036	This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006508;proteolysis;TAS|GO:0016567;protein ubiquitination;IEA		GO:0004842;ubiquitin-protein transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FBXL6			https://www.ncbi.nlm.nih.gov/omim/?term=609076	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL6&submit=Quick%0D%14770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL6	rs782209356	0	0	0.3737	1	0	0	intronic	intronic	intronic	FBXL6	FBXL6	ENSG00000182325,ENSG00000185803	Na	Na	Na	Na	Na	Na	Het;+CC	1110;65|25	Hom;+CC	2365;0|40
N	N	-	8	145579954	145579954	G	GGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	indel	intronic	 	 	 	 	FBXL6	Fbxl6	ENSG00000182325	F-box and leucine rich repeat protein 6	chr8:145579091-145583036	This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006508;proteolysis;TAS|GO:0016567;protein ubiquitination;IEA		GO:0004842;ubiquitin-protein transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FBXL6			https://www.ncbi.nlm.nih.gov/omim/?term=609076	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL6&submit=Quick%0D%14770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL6	Na	0	0	0.3624	1	0	0	intronic	intronic	intronic	FBXL6	FBXL6	ENSG00000182325,ENSG00000185803	Na	Na	Na	Na	Na	Na	Het;+GCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	1562;68|25	Hom;+GCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	3694;0|39
N	N	-	8	145580984	145580984	A	G	snp	UTR5	-457T>C	 	 	 	FBXL6	Fbxl6	ENSG00000182325	F-box and leucine rich repeat protein 6	chr8:145579091-145583036	This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006508;proteolysis;TAS|GO:0016567;protein ubiquitination;IEA		GO:0004842;ubiquitin-protein transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FBXL6			https://www.ncbi.nlm.nih.gov/omim/?term=609076	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL6&submit=Quick%0D%14770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL6	rs2272666	0.643171	0	0	1	0	0	intronic	UTR5	intronic	FBXL6	FBXL6(uc003zbz.3:c.-457T>C,uc010mfx.3:c.-281T>C)	ENSG00000182325,ENSG00000185803	Na	Na	Na	Na	Na	Na	Het;A>G	105;7|4	Hom;A>G	313;0|9
N	N	-	8	145581557	145581557	G	A	snp	UTR5	-1030C>T	 	 	 	FBXL6	Fbxl6	ENSG00000182325	F-box and leucine rich repeat protein 6	chr8:145579091-145583036	This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006508;proteolysis;TAS|GO:0016567;protein ubiquitination;IEA		GO:0004842;ubiquitin-protein transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FBXL6			https://www.ncbi.nlm.nih.gov/omim/?term=609076	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL6&submit=Quick%0D%14770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL6	rs2280840	0.511382	0	0	1	0	0	intronic	UTR5	intronic	FBXL6	FBXL6(uc003zbz.3:c.-1030C>T,uc010mfx.3:c.-854C>T)	ENSG00000182325,ENSG00000185803	Na	Na	Na	Na	Na	Na	Het;G>A	38;10|3	Hom;G>A	363;0|13
N	N	-	8	145582839	145582839	T	C	snp	UTR5	-2136A>G	 	 	 	FBXL6	Fbxl6	ENSG00000182325	F-box and leucine rich repeat protein 6	chr8:145579091-145583036	This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006508;proteolysis;TAS|GO:0016567;protein ubiquitination;IEA		GO:0004842;ubiquitin-protein transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FBXL6			https://www.ncbi.nlm.nih.gov/omim/?term=609076	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL6&submit=Quick%0D%14770ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL6	rs3817681	0.457268	0	0	1	0	0	intronic	UTR5	intronic	SLC52A2	FBXL6(uc010mfx.3:c.-2136A>G)	ENSG00000185803	Na	Na	Na	Na	Na	Na	Het;T>C	1166;63|51	Hom;T>C	2489;0|87
N	N	-	8	145596535	145596535	C	A	snp	intergenic	 	 	 	 	SLC52A2	Slc52a2	ENSG00000185803	solute carrier family 52 member 2	chr8:145577795-145584932	This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]	BROWN-VIALETTO-VAN LAERE SYNDROME 2	 	Vitamin B2 (riboflavin) metabolism	GO:0006771;riboflavin metabolic process;TAS|GO:0006810;transport;IEA|GO:0032218;riboflavin transport;IEA|GO:0046718;viral entry into host cell;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001618;virus receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0032217;riboflavin transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC52A2		https://hpo.jax.org/app/browse/search?q=SLC52A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607882	http://www.informatics.jax.org/searchtool/Search.do?query=SLC52A2&submit=Quick%0D%15492ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC52A2	rs75674422	0.633586	0	0	1	0	0	intergenic	intergenic	intergenic	SLC52A2(dist=11587),ADCK5(dist=1169)	SLC52A2(dist=11587),ADCK5(dist=1196)	ENSG00000185803(dist=11603),ENSG00000173137(dist=1196)	Na	Na	Na	Na	Na	Na	Het;C>A	265;27|20	Hom;C>A	790;0|27
N	N	-	8	145603114	145603114	A	C	snp	nonsynonymous SNV	A51C	R17S	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ADCK5	Adck5	ENSG00000173137	aarF domain containing kinase 5	chr8:145596790-145618457		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCK5				http://www.informatics.jax.org/searchtool/Search.do?query=ADCK5&submit=Quick%0D%13295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK5	rs6599528	0.632388	0.5418	0.5255	1	0	0	exonic	exonic	exonic	ADCK5	ADCK5	ENSG00000173137	nonsynonymous SNV	nonsynonymous SNV	unknown	ADCK5:NM_174922:exon2:c.A51C:p.R17S,	ADCK5:uc003zch.3:exon2:c.A51C:p.R17S,	UNKNOWN	Het;A>C	721;29|36	Hom;A>C	1957;0|72
N	N	-	8	14560437	14560440	GATA	G	indel	intronic	 	 	 	 	SGCZ	Sgcz	ENSG00000185053	sarcoglycan zeta	chr8:13947373-15095848	The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]	Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain	 		GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SGCZ			https://www.ncbi.nlm.nih.gov/omim/?term=608113	http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ	Na	0	0	0	1	0	0	intronic	intronic	intronic	SGCZ	SGCZ	ENSG00000185053	Na	Na	Na	Na	Na	Na	Het;-ATA	344;13|10	Hom;-ATA	458;0|11
N	N	-	8	14560441	14560442	GA	G	indel	intronic	 	 	 	 	SGCZ	Sgcz	ENSG00000185053	sarcoglycan zeta	chr8:13947373-15095848	The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]	Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain	 		GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SGCZ			https://www.ncbi.nlm.nih.gov/omim/?term=608113	http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ	Na	0	0	0	1	0	0	intronic	intronic	intronic	SGCZ	SGCZ	ENSG00000185053	Na	Na	Na	Na	Na	Na	Het;-A	344;13|10	Hom;-A	508;0|11
N	N	-	8	145615776	145615776	G	A	snp	intronic	 	 	 	 	ADCK5	Adck5	ENSG00000173137	aarF domain containing kinase 5	chr8:145596790-145618457		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCK5				http://www.informatics.jax.org/searchtool/Search.do?query=ADCK5&submit=Quick%0D%13295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK5	rs1383095	0.458466	0	0	1	0	0	intronic	intronic	intronic	ADCK5	ADCK5	ENSG00000173137	Na	Na	Na	Na	Na	Na	Het;G>A	132;12|6	Hom;G>A	233;0|8
N	N	-	8	145617534	145617549	TGGGGGTGCAAGGTGA	T	indel	frameshift substitution	1256_1267T	 	 	 	ADCK5	Adck5	ENSG00000173137	aarF domain containing kinase 5	chr8:145596790-145618457		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCK5				http://www.informatics.jax.org/searchtool/Search.do?query=ADCK5&submit=Quick%0D%13295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK5	rs148509143	0.626997	0.4210	0.4883	1	0	0	exonic	exonic	exonic	ADCK5	ADCK5	ENSG00000173137	frameshift substitution	frameshift substitution	unknown	ADCK5:NM_174922:exon12:c.1256_1267T,	ADCK5:uc003zci.3:exon3:c.23_34T,ADCK5:uc003zch.3:exon12:c.1256_1267T,	UNKNOWN	Het;-GGGGGTGCAAGGTGA	345;17|11	Hom;-GGGGGTGCAAGGTGA	1056;0|25
N	N	-	8	145618309	145618309	G	A	snp	UTR3	*1439G>A	 	 	 	ADCK5	Adck5	ENSG00000173137	aarF domain containing kinase 5	chr8:145596790-145618457		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCK5				http://www.informatics.jax.org/searchtool/Search.do?query=ADCK5&submit=Quick%0D%13295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK5	rs1052951	0.460264	0.3111	0.5208	1	0	0	UTR3	UTR3	UTR3	ADCK5(NM_174922:c.*20G>A)	ADCK5(uc003zch.3:c.*20G>A,uc003zci.3:c.*20G>A)	ENSG00000173137(ENST00000529654:c.*1439G>A,ENST00000308860:c.*20G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	831;21|22	Hom;G>A	2079;0|48
N	N	-	8	145618312	145618312	G	A	snp	UTR3	*1442G>A	 	 	 	ADCK5	Adck5	ENSG00000173137	aarF domain containing kinase 5	chr8:145596790-145618457		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADCK5				http://www.informatics.jax.org/searchtool/Search.do?query=ADCK5&submit=Quick%0D%13295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK5	rs1052952	0.451478	0.3014	0.5190	1	0	0	UTR3	UTR3	UTR3	ADCK5(NM_174922:c.*23G>A)	ADCK5(uc003zch.3:c.*23G>A,uc003zci.3:c.*23G>A)	ENSG00000173137(ENST00000529654:c.*1442G>A,ENST00000308860:c.*23G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	831;18|22	Hom;G>A	2079;0|47
N	N	-	8	145618597	145618597	G	A	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs1871532	0.457268	0.2840	0.5630	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;G>A	562;20|24	Hom;G>A	916;0|35
N	N	-	8	145618862	145618862	C	G	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs2272661	0.517372	0.2768	0.4393	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;C>G	1718;71|75	Hom;C>G	3671;1|129
N	N	-	8	145620296	145620296	C	G	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs2280837	0.548123	0.4462	0.4989	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;C>G	1691;58|73	Hom;C>G	3438;0|122
N	N	-	8	145621556	145621556	A	G	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs2280836	0.634585	0.5343	0.5579	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;A>G	1116;37|52	Hom;A>G	1557;0|53
N	N	-	8	145622923	145622923	T	C	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs2977835	0.500599	0.3609	0.4454	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;T>C	435;52|25	Hom;T>C	1554;0|52
N	N	-	8	145623098	145623098	T	C	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs2977834	0.515974	0.3852	0.4467	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;T>C	721;68|38	Hom;T>C	2923;0|109
N	N	-	8	145623378	145623423	CCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATG	C	indel	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs782293320	0	0	0.3467	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;-CCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATG	980;15|28	Hom;-CCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATG	2390;0|59
N	N	-	8	145623446	145623446	C	G	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs56293142	0.455671	0	0	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;C>G	542;5|14	Hom;C>G	1604;0|32
N	N	-	8	145623881	145623881	C	CCCCAGGT	indel	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs141269368	0.451877	0.3194	0.4173	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;+CCCAGGT	1035;88|53	Hom;+CCCAGGT	2501;2|90
N	N	-	8	145623963	145623963	G	A	snp	synonymous SNV	C1704T	D568D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs4317614	0.459065	0.3262	0.4228	1	0	0	exonic	exonic	exonic	CPSF1	CPSF1	ENSG00000071894	synonymous SNV	synonymous SNV	unknown	CPSF1:NM_013291:exon18:c.C1704T:p.D568D,	CPSF1:uc003zcj.3:exon18:c.C1704T:p.D568D,	UNKNOWN	Het;G>A	1934;118|99	Hom;G>A	4640;0|174
N	N	-	8	145624640	145624640	C	T	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs2293963	0.459065	0.3279	0.4393	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;C>T	1140;41|51	Hom;C>T	2852;0|103
N	N	-	8	145625283	145625283	T	C	snp	intronic	 	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs2291135	0.59405	0.4763	0.5655	1	0	0	intronic	intronic	intronic	CPSF1	CPSF1	ENSG00000071894	Na	Na	Na	Na	Na	Na	Het;T>C	336;41|19	Hom;T>C	1807;0|68
N	N	-	8	145625524	145625526	GCC	G	indel	frameshift substitution	737_739C	 	 	 	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs145341443	0	0.0499	0.4402	1	0	0	intronic	exonic	ncRNA_exonic	CPSF1	CPSF1	ENSG00000221802	Na	frameshift substitution	Na	Na	CPSF1:uc003zck.1:exon8:c.737_739C,	Na	Het;-CC	428;4|14	Hom;-CC	1225;1|31
N	N	-	8	145625538	145625538	C	G	snp	nonsynonymous SNV	G725C	G242A	aliphatic,neutral	aliphatic,hydrophobic,neutral	CPSF1	Cpsf1	ENSG00000071894	cleavage and polyadenylation specific factor 1	chr8:145618444-145634753	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]		 	Processing of Intronless Pre-mRNAs	GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPSF1	https://www.uniprot.org/uniprot/Q10570		https://www.ncbi.nlm.nih.gov/omim/?term=606027	http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1	rs141140965	0	0	0.6866	1	0	0	intronic	exonic	ncRNA_exonic	CPSF1	CPSF1	ENSG00000221802	Na	nonsynonymous SNV	Na	Na	CPSF1:uc003zck.1:exon8:c.G725C:p.G242A,	Na	Het;C>G	465;5|15	Hom;C>G	1452;1|36
N	N	-	8	145733234	145733234	G	A	snp	downstream	 	 	 	 	GPT	Gpt	ENSG00000167701	glutamic--pyruvic transaminase	chr8:145728356-145732557	This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]	null	Electrophoretic variants are detected in C57BL/6, BALB/c and DBA/2 (a allele); in MA/J and NZB/Bl (b allele).  M. m. molossinus and M. m. castaneus have either the b or c allele. In liver, GPT1 activity rises dramatically at 12-19 days to adult levels.	Amino acid synthesis and interconversion (transamination)	GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009058;biosynthetic process;IEA|GO:0042853;L-alanine catabolic process;IEA	GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004021;L-alanine:2-oxoglutarate aminotransferase activity;EXP|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPT			https://www.ncbi.nlm.nih.gov/omim/?term=138200	http://www.informatics.jax.org/searchtool/Search.do?query=GPT&submit=Quick%0D%12086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPT	rs55776530	0.351637	0	0	1	0	0	downstream	downstream	downstream	GPT	GPT	ENSG00000167701	Na	Na	Na	Na	Na	Na	Het;G>A	189;2|10	Hom;G>A	206;0|8
N	N	-	8	145756170	145756170	G	A	snp	synonymous SNV	C2973T	D991D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ARHGAP39	Arhgap39	ENSG00000147799	Rho GTPase activating protein 39	chr8:145754563-145911194			 	Inactivation of Cdc42 and Rac	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP39	https://www.uniprot.org/uniprot/Q9C0H5		https://www.ncbi.nlm.nih.gov/omim/?term=615880	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP39&submit=Quick%0D%9047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP39	rs873884	0.386981	0.5092	0.5064	1	0	0	exonic	exonic	exonic	ARHGAP39	ARHGAP39	ENSG00000147799	synonymous SNV	synonymous SNV	unknown	ARHGAP39:NM_025251:exon12:c.C3066T:p.D1022D,	ARHGAP39:uc011llk.1:exon10:c.C2973T:p.D991D,ARHGAP39:uc003zds.1:exon12:c.C3066T:p.D1022D,ARHGAP39:uc003zdt.1:exon11:c.C2973T:p.D991D,	UNKNOWN	Het;G>A	2242;106|111	Hom;G>A	5454;0|208
N	N	-	8	1712523	1712523	C	CAGGCGG	indel	ncRNA_intronic	 	 	 	 	AC100810.1																		rs5888906	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	CLN8	CLN8	ENSG00000253982	Na	Na	Na	Na	Na	Na	Het;+AGGCGG	382;2|11	Hom;+AGGCGG	593;0|14
N	N	-	8	17739767	17739767	C	G	snp	ncRNA_intronic	 	 	 	 	AC087273.1																		rs117951932	0.0211661	0	0	1	0	0	intronic	intronic	ncRNA_intronic	FGL1	FGL1	ENSG00000253215	Na	Na	Na	Na	Na	Na	Het;C>G	82;1|4	Hom;C>G	179;0|6
N	N	-	8	17927516	17927516	A	G	snp	intronic	 	 	 	 	ASAH1	Asah1	ENSG00000104763	N-acylsphingosine amidohydrolase 1	chr8:17913934-17942494	This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	Nullizygous mutation of this gene causes embryonic lethality. Homozygotes for the P361R mutation die prematurely with growth defects, low acid ceramidase activity, high ceramide levels, histiocyte infiltrates into various organs, Farber bodies, short femur growth plates and altered ovary morphology.	Neutrophil degranulation	GO:0006629;lipid metabolic process;IEA|GO:0006672;ceramide metabolic process;TAS|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003824;catalytic activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017040;ceramidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ASAH1	https://www.uniprot.org/uniprot/Q13510	https://hpo.jax.org/app/browse/search?q=ASAH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613468	http://www.informatics.jax.org/searchtool/Search.do?query=ASAH1&submit=Quick%0D%3161ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAH1	rs35815009	0.420527	0	0	1	0	0	intronic	intronic	intronic	ASAH1	ASAH1	ENSG00000104763	Na	Na	Na	Na	Na	Na	Het;A>G	184;1|6	Hom;A>G	318;0|9
N	N	-	8	18393159	18393159	C	CT	indel	UTR3	*94G>AG	 	 	 	PSD3	Psd3	ENSG00000156011	pleckstrin and Sec7 domain containing 3	chr8:18384811-18942240		Carcinoma, Squamous Cell|Esophageal Neoplasms; Hip; Cholesterol, LDL; Tobacco Use Disorder; prostate cancer; Neutrophils; Stroke; Memory	 		GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSD3	https://www.uniprot.org/uniprot/Q9NYI0		https://www.ncbi.nlm.nih.gov/omim/?term=614440	http://www.informatics.jax.org/searchtool/Search.do?query=PSD3&submit=Quick%0D%9929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD3	rs397780471	0.557907	0	0	1	0	0	UTR3	UTR3	UTR3	PSD3(NM_015310:c.*94G>AG,NM_206909:c.*94G>AG)	PSD3(uc003wyx.4:c.*94G>AG,uc003wyy.3:c.*94G>AG,uc003wyz.3:c.*94G>AG,uc003wza.3:c.*94G>AG)	ENSG00000156011(ENST00000327040:c.*94G>AG,ENST00000440756:c.*94G>AG,ENST00000286485:c.*94G>AG,ENST00000523619:c.*94G>AG,ENST00000428502:c.*94G>AG,ENST00000518315:c.*1244G>AG)	Na	Na	Na	Na	Na	Na	Het;+T	194;2|10	Hom;+T	71;1|5
N	N	-	8	2000587	2000587	A	G	snp	intronic	 	 	 	 	MYOM2	Myom2	ENSG00000274137	myomesin 2	chr8:1993155-2113475	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]	Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL	 		GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA	GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM2	https://www.uniprot.org/uniprot/P54296		https://www.ncbi.nlm.nih.gov/omim/?term=603509	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2	rs11136458	0.0648962	0	0	1	0	0	intronic	intronic	intronic	MYOM2	MYOM2	ENSG00000036448	Na	Na	Na	Na	Na	Na	Het;A>G	75;3|3	Hom;A>G	261;0|8
N	N	-	8	2005676	2005676	A	G	snp	intronic	 	 	 	 	MYOM2	Myom2	ENSG00000274137	myomesin 2	chr8:1993155-2113475	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]	Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL	 		GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA	GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM2	https://www.uniprot.org/uniprot/P54296		https://www.ncbi.nlm.nih.gov/omim/?term=603509	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2	rs3765208	0.607228	0	0	1	0	0	intronic	intronic	intronic	MYOM2	MYOM2	ENSG00000036448	Na	Na	Na	Na	Na	Na	Het;A>G	832;56|38	Hom;A>G	1585;0|56
N	N	-	8	2033579	2033579	A	G	snp	intronic	 	 	 	 	MYOM2	Myom2	ENSG00000274137	myomesin 2	chr8:1993155-2113475	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]	Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL	 		GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA	GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM2	https://www.uniprot.org/uniprot/P54296		https://www.ncbi.nlm.nih.gov/omim/?term=603509	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2	rs59220531	0.357029	0	0	1	0	0	intronic	intronic	intronic	MYOM2	MYOM2	ENSG00000036448	Na	Na	Na	Na	Na	Na	Het;A>G	355;17|16	Hom;A>G	651;0|21
N	N	-	8	2040415	2040415	G	A	snp	intronic	 	 	 	 	MYOM2	Myom2	ENSG00000274137	myomesin 2	chr8:1993155-2113475	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]	Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL	 		GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA	GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM2	https://www.uniprot.org/uniprot/P54296		https://www.ncbi.nlm.nih.gov/omim/?term=603509	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2	rs893877	0.574681	0	0	1	0	0	intronic	intronic	intronic	MYOM2	MYOM2	ENSG00000036448	Na	Na	Na	Na	Na	Na	Het;G>A	208;11|9	Hom;G>A	548;0|20
N	N	-	8	2054195	2054195	C	G	snp	intronic	 	 	 	 	MYOM2	Myom2	ENSG00000274137	myomesin 2	chr8:1993155-2113475	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]	Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL	 		GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA	GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM2	https://www.uniprot.org/uniprot/P54296		https://www.ncbi.nlm.nih.gov/omim/?term=603509	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2	rs3817706	0.457069	0.4875	0.5187	1	0	0	intronic	intronic	intronic	MYOM2	MYOM2	ENSG00000036448	Na	Na	Na	Na	Na	Na	Het;C>G	961;99|49	Hom;C>G	4170;2|153
N	N	-	8	2532368	2532368	A	G	snp	ncRNA_intronic	 	 	 	 	LOC101927815																		rs12675592	0.583466	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101927815	BC045738(dist=51915),AK128880(dist=21688)	ENSG00000254319	Na	Na	Na	Na	Na	Na	Het;A>G	568;25|22	Hom;A>G	1474;0|53
N	N	-	8	30469805	30469805	A	C	snp	intronic	 	 	 	 	GTF2E2	Gtf2e2	ENSG00000197265	general transcription factor IIE subunit 2	chr8:30435835-30515768		ulcerative colitis; Cognitive performance 	 	RNA Polymerase II Transcription Initiation And Promoter Clearance	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005673;transcription factor TFIIE complex;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GTF2E2		https://hpo.jax.org/app/browse/search?q=GTF2E2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=189964	http://www.informatics.jax.org/searchtool/Search.do?query=GTF2E2&submit=Quick%0D%16584ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2E2	rs7815625	0.333666	0.3503	0.4031	1	0	0	intronic	intronic	intronic	GTF2E2	GTF2E2	ENSG00000197265	Na	Na	Na	Na	Na	Na	Het;A>C	403;36|22	Hom;A>C	1472;1|52
N	N	-	8	31883798	31883798	C	G	snp	ncRNA_exonic	 	 	 	 	NRG1-IT1																		rs55938004	0.783147	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	NRG1-IT1	BC037250	ENSG00000253974	Na	Na	Na	Na	Na	Na	Het;C>G	1263;81|59	Hom;C>G	2820;0|97
N	N	-	8	31937903	31937903	G	A	snp	ncRNA_intronic	 	 	 	 	BC037250																		rs1947734	0.388179	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	NRG1-IT1	BC037250	ENSG00000253974	Na	Na	Na	Na	Na	Na	Het;G>A	162;6|9	Hom;G>A	201;0|7
N	N	-	8	33356191	33356191	G	GT	indel	UTR3	*44G>GT	 	 	 	MAK16	Mak16	ENSG00000198042	MAK16 homolog	chr8:33342268-33358778			 		GO:0000460;maturation of 5.8S rRNA;IBA|GO:0000470;maturation of LSU-rRNA;IBA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MAK16				http://www.informatics.jax.org/searchtool/Search.do?query=MAK16&submit=Quick%0D%16795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAK16	rs11445524	0.396166	0	0.2095	1	0	0	UTR3	UTR3	UTR3	MAK16(NM_032509:c.*44G>GT),TTI2(NM_001102401:c.*500C>AC,NM_001265581:c.*500C>AC,NM_025115:c.*500C>AC)	MAK16(uc003xjj.3:c.*44G>GT),TTI2(uc003xjn.2:c.*500C>AC,uc003xjm.5:c.*500C>AC,uc003xjl.5:c.*500C>AC)	ENSG00000198042(ENST00000360128:c.*44G>GT)	Na	Na	Na	Na	Na	Na	Het;+T	227;7|16	Hom;+T	424;2|22
N	N	-	8	36246046	36246047	CT	C	indel	intergenic	 	 	 	 	AP006245.2																		rs755239383	0	0	0	1	0	0	intergenic	intergenic	intergenic	UNC5D(dist=593865),KCNU1(dist=395795)	7SK(dist=121764),KCNU1(dist=395795)	ENSG00000254320(dist=67124),ENSG00000253363(dist=148862)	Na	Na	Na	Na	Na	Na	Het;-T	338;7|26	Hom;-T	444;2|26
N	N	-	8	36776267	36776267	T	G	snp	intronic	 	 	 	 	KCNU1	Kcnu1	ENSG00000215262	potassium calcium-activated channel subfamily U member 1	chr8:36641842-36793646	This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Heart Failure	Homozygous male mutants are infertile with impaired sperm capacitation.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;TAS|GO:0060072;large conductance calcium-activated potassium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KCNU1			https://www.ncbi.nlm.nih.gov/omim/?term=615215	http://www.informatics.jax.org/searchtool/Search.do?query=KCNU1&submit=Quick%0D%18323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNU1	rs10108041	0.591054	0	0	1	0	0	intronic	intronic	intronic	KCNU1	KCNU1	ENSG00000215262	Na	Na	Na	Na	Na	Na	Het;T>G	170;4|8	Hom;T>G	358;0|12
N	N	-	8	36780209	36780209	A	G	snp	intronic	 	 	 	 	KCNU1	Kcnu1	ENSG00000215262	potassium calcium-activated channel subfamily U member 1	chr8:36641842-36793646	This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Heart Failure	Homozygous male mutants are infertile with impaired sperm capacitation.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;TAS|GO:0060072;large conductance calcium-activated potassium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KCNU1			https://www.ncbi.nlm.nih.gov/omim/?term=615215	http://www.informatics.jax.org/searchtool/Search.do?query=KCNU1&submit=Quick%0D%18323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNU1	rs1010669	0.591054	0	0	1	0	0	intronic	intronic	intronic	KCNU1	KCNU1	ENSG00000215262	Na	Na	Na	Na	Na	Na	Het;A>G	448;20|19	Hom;A>G	1032;0|35
N	N	-	8	36788693	36788693	T	C	snp	intronic	 	 	 	 	KCNU1	Kcnu1	ENSG00000215262	potassium calcium-activated channel subfamily U member 1	chr8:36641842-36793646	This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder; Heart Failure	Homozygous male mutants are infertile with impaired sperm capacitation.	Sperm Motility And Taxes	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;TAS|GO:0060072;large conductance calcium-activated potassium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KCNU1			https://www.ncbi.nlm.nih.gov/omim/?term=615215	http://www.informatics.jax.org/searchtool/Search.do?query=KCNU1&submit=Quick%0D%18323ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNU1	rs6986249	0.589058	0.5774	0.5778	1	0	0	intronic	intronic	intronic	KCNU1	KCNU1	ENSG00000215262	Na	Na	Na	Na	Na	Na	Het;T>C	176;13|9	Hom;T>C	828;0|31
N	N	-	8	38000823	38000824	AT	A	indel	UTR3	*968_*967delinsT	 	 	 	STAR	Star	ENSG00000147465	steroidogenic acute regulatory protein	chr8:38001167-38008783	The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Tobacco Use Disorder; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bone Mineral Density; Lymphoma, Non-Hodgkin; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression; familial glucocorticoid deficiency; Type 2 Diabetes| edema | rosiglitazone; Endometrial Neoplasms	Homozygous null mice fail to thrive and die during the postnatal period due to adrenocortical insufficiency. Mice exhibit male pseudohermaprhoditism and show a progressive accumulation of lipids within steroidogenic cells of the adrenal glands and gonads.	Pregnenolone biosynthesis	GO:0006082;organic acid metabolic process;IEA|GO:0006694;steroid biosynthetic process;TAS|GO:0006699;bile acid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;TAS|GO:0006703;estrogen biosynthetic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007420;brain development;IEA|GO:0007584;response to nutrient;IEA|GO:0007623;circadian rhythm;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008211;glucocorticoid metabolic process;IEA|GO:0008584;male gonad development;IEA|GO:0009635;response to herbicide;IEA|GO:0009636;response to toxic substance;IEA|GO:0010033;response to organic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010288;response to lead ion;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0016101;diterpenoid metabolic process;IEA|GO:0017085;response to insecticide;IEA|GO:0017143;insecticide metabolic process;IEA|GO:0018879;biphenyl metabolic process;IEA|GO:0018894;dibenzo-p-dioxin metabolic process;IEA|GO:0018958;phenol-containing compound metabolic process;IEA|GO:0018963;phthalate metabolic process;IEA|GO:0030301;cholesterol transport;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032367;intracellular cholesterol transport;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0034698;response to gonadotropin;IEA|GO:0035094;response to nicotine;IEA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0042747;circadian sleep/wake cycle, REM sleep;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0044321;response to leptin;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045471;response to ethanol;IEA|GO:0046677;response to antibiotic;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048545;response to steroid hormone;IEA|GO:0050769;positive regulation of neurogenesis;IEA|GO:0050810;regulation of steroid biosynthetic process;IEA|GO:0051412;response to corticosterone;IEA|GO:0060992;response to fungicide;IEA|GO:0061370;testosterone biosynthetic process;IEA|GO:0070859;positive regulation of bile acid biosynthetic process;IDA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071236;cellular response to antibiotic;IEA|GO:0071248;cellular response to metal ion;IEA|GO:0071276;cellular response to cadmium ion;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071346;cellular response to interferon-gamma;IEA|GO:0071371;cellular response to gonadotropin stimulus;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IEA|GO:0071373;cellular response to luteinizing hormone stimulus;IEA|GO:0071378;cellular response to growth hormone stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071872;cellular response to epinephrine stimulus;IEA	GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;TAS|GO:0005829;cytosol;IEA|GO:0030061;mitochondrial crista;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0017127;cholesterol transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/STAR	https://www.uniprot.org/uniprot/P49675	https://hpo.jax.org/app/browse/search?q=STAR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600617	http://www.informatics.jax.org/searchtool/Search.do?query=STAR&submit=Quick%0D%9006ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAR	rs11326306	0.786741	0	0	1	0	0	UTR3	UTR3	intronic	STAR(NM_000349:c.*968_*967delinsT)	STAR(uc003xkv.1:c.*968_*967delinsT)	ENSG00000129691	Na	Na	Na	Na	Na	Na	Het;-T	388;11|30	Hom;-T	293;2|19
N	N	-	8	38835456	38835456	T	C	snp	intronic	 	 	 	 	HTRA4	Htra4	ENSG00000169495	HtrA serine peptidase 4	chr8:38831683-38846181	This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008]		Mice homozygous for a knock-out allele exhibit no abnormal phenotype.		GO:0001558;regulation of cell growth;IEA|GO:0006508;proteolysis;IDA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS	GO:0005576;extracellular region;IEA	GO:0004175;endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005520;insulin-like growth factor binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HTRA4			https://www.ncbi.nlm.nih.gov/omim/?term=610700	http://www.informatics.jax.org/searchtool/Search.do?query=HTRA4&submit=Quick%0D%12504ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTRA4	rs4733960	0.779153	0.7380	0.7819	1	0	0	intronic	intronic	intronic	HTRA4	HTRA4	ENSG00000169495	Na	Na	Na	Na	Na	Na	Het;T>C	269;7|11	Hom;T>C	320;0|10
N	N	-	8	38835666	38835666	T	C	snp	synonymous SNV	T966C	N322N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HTRA4	Htra4	ENSG00000169495	HtrA serine peptidase 4	chr8:38831683-38846181	This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008]		Mice homozygous for a knock-out allele exhibit no abnormal phenotype.		GO:0001558;regulation of cell growth;IEA|GO:0006508;proteolysis;IDA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS	GO:0005576;extracellular region;IEA	GO:0004175;endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005520;insulin-like growth factor binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HTRA4			https://www.ncbi.nlm.nih.gov/omim/?term=610700	http://www.informatics.jax.org/searchtool/Search.do?query=HTRA4&submit=Quick%0D%12504ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTRA4	rs4733961	0.781949	0.7404	0.7870	1	0	0	exonic	exonic	exonic	HTRA4	HTRA4	ENSG00000169495	synonymous SNV	synonymous SNV	unknown	HTRA4:NM_153692:exon4:c.T966C:p.N322N,	HTRA4:uc003xmj.3:exon4:c.T966C:p.N322N,	UNKNOWN	Het;T>C	607;17|26	Hom;T>C	1357;0|51
N	N	-	8	38884342	38884342	G	GTTCT	indel	intronic	 	 	 	 	ADAM9	Adam9	ENSG00000282230	ADAM metallopeptidase domain 9	chr8:38854388-38962663	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]	Alzheimer's disease ; Tunica Media	Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium.					http://www.genecards.org/index.php?path=/Search/keyword/ADAM9		https://hpo.jax.org/app/browse/search?q=ADAM9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602713	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM9&submit=Quick%0D%22445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM9	rs10652213	0	0.7892	0.7973	1	0	0	intronic	intronic	intronic	ADAM9	ADAM9	ENSG00000168615	Na	Na	Na	Na	Na	Na	Het;+TTCT	1146;43|32	Hom;+TTCT	3012;2|72
N	N	-	8	38911953	38911953	C	A	snp	intronic	 	 	 	 	ADAM9	Adam9	ENSG00000282230	ADAM metallopeptidase domain 9	chr8:38854388-38962663	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]	Alzheimer's disease ; Tunica Media	Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium.					http://www.genecards.org/index.php?path=/Search/keyword/ADAM9		https://hpo.jax.org/app/browse/search?q=ADAM9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602713	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM9&submit=Quick%0D%22445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM9	rs9643905	0.817492	0.7759	0.7803	1	0	0	intronic	intronic	intronic	ADAM9	ADAM9	ENSG00000168615	Na	Na	Na	Na	Na	Na	Het;C>A	339;11|14	Hom;C>A	718;0|27
N	N	-	8	38929088	38929088	T	C	snp	intronic	 	 	 	 	ADAM9	Adam9	ENSG00000282230	ADAM metallopeptidase domain 9	chr8:38854388-38962663	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]	Alzheimer's disease ; Tunica Media	Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium.					http://www.genecards.org/index.php?path=/Search/keyword/ADAM9		https://hpo.jax.org/app/browse/search?q=ADAM9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602713	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM9&submit=Quick%0D%22445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM9	rs6474522	0.816294	0	0	1	0	0	intronic	intronic	intronic	ADAM9	ADAM9	ENSG00000168615	Na	Na	Na	Na	Na	Na	Het;T>C	156;5|6	Hom;T>C	399;0|12
N	N	-	8	39142264	39142264	A	G	snp	intronic	 	 	 	 	ADAM32	Adam32	ENSG00000275594	ADAM metallopeptidase domain 32	chr8:38964509-39142430	This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]	Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM32				http://www.informatics.jax.org/searchtool/Search.do?query=ADAM32&submit=Quick%0D%21395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM32	rs7008808	0.33726	0.4024	0.3467	1	0	0	intronic	intronic	intronic	ADAM32	ADAM32	ENSG00000197140	Na	Na	Na	Na	Na	Na	Het;A>G	510;39|25	Hom;A>G	1156;0|39
N	N	-	8	39142550	39142550	G	A	snp	downstream	 	 	 	 	ADAM32	Adam32	ENSG00000275594	ADAM metallopeptidase domain 32	chr8:38964509-39142430	This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]	Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAM32				http://www.informatics.jax.org/searchtool/Search.do?query=ADAM32&submit=Quick%0D%21395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM32	rs4551318	0.336062	0	0	1	0	0	downstream	downstream	downstream	ADAM32	ADAM32	ENSG00000197140	Na	Na	Na	Na	Na	Na	Het;G>A	62;3|3	Hom;G>A	91;0|5
N	N	-	8	39172993	39172993	G	A	snp	ncRNA_exonic	 	 	 	 	ADAM5																		rs4073880	0.601637	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ADAM5	ADAM5	ENSG00000196115	Na	Na	Na	Na	Na	Na	Het;G>A	496;51|30	Hom;G>A	1616;0|64
N	N	-	8	39173096	39173096	G	A	snp	ncRNA_intronic	 	 	 	 	ADAM5																		rs4073881	0.601438	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ADAM5	ADAM5	ENSG00000196115	Na	Na	Na	Na	Na	Na	Het;G>A	207;22|12	Hom;G>A	758;0|29
N	N	-	8	39180499	39180499	A	T	snp	ncRNA_exonic	 	 	 	 	ADAM5																		rs3205882	0.550319	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ADAM5	ADAM5	ENSG00000196115	Na	Na	Na	Na	Na	Na	Het;A>T	1406;93|72	Hom;A>T	4431;0|167
N	N	-	8	39181626	39181626	G	A	snp	ncRNA_intronic	 	 	 	 	ADAM5																		rs13263225	0.551518	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ADAM5	ADAM5	ENSG00000196115	Na	Na	Na	Na	Na	Na	Het;G>A	79;12|4	Hom;G>A	339;0|10
N	N	-	8	39181739	39181739	G	GT	indel	ncRNA_exonic	 	 	 	 	ADAM5																		rs34280617	0.54353	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ADAM5	ADAM5	ENSG00000196115	Na	Na	Na	Na	Na	Na	Het;+T	1174;54|40	Hom;+T	3362;1|92
N	N	-	8	39182716	39182718	CAT	C	indel	ncRNA_intronic	 	 	 	 	ADAM5																		rs10561768	0.542931	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ADAM5	ADAM5	ENSG00000196115	Na	Na	Na	Na	Na	Na	Het;-AT	1739;31|45	Hom;-AT	2817;0|64
N	N	-	8	39463823	39463823	T	C	snp	intronic	 	 	 	 	ADAM18	Adam18	ENSG00000278548	ADAM metallopeptidase domain 18	chr8:39442008-39587583	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]	Tobacco Use Disorder; HIV-1	Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with that of controls.		GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;TAS|GO:0030154;cell differentiation;IEA	GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM18				http://www.informatics.jax.org/searchtool/Search.do?query=ADAM18&submit=Quick%0D%22075ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM18	rs13268577	0.272963	0.3602	0.3952	1	0	0	intronic	intronic	intronic	ADAM18	ADAM18	ENSG00000168619	Na	Na	Na	Na	Na	Na	Het;T>C	397;21|20	Hom;T>C	1224;0|46
N	N	-	8	39607105	39607105	C	CATGT	indel	intronic	 	 	 	 	ADAM2	Adam2	ENSG00000276286	ADAM metallopeptidase domain 2	chr8:39601254-39695808	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]		Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida.	Interaction With The Zona Pellucida	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007338;single fertilization;IEA|GO:0007339;binding of sperm to zona pellucida;TAS|GO:0007342;fusion of sperm to egg plasma membrane;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM2	https://www.uniprot.org/uniprot/Q99965		https://www.ncbi.nlm.nih.gov/omim/?term=601533	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM2&submit=Quick%0D%21567ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM2	rs112217136	0	0	0	1	0	0	intronic	intronic	intronic	ADAM2	ADAM2	ENSG00000104755	Na	Na	Na	Na	Na	Na	Het;+ATGT	277;11|7	Hom;+ATGT	843;0|21
N	N	-	8	39618637	39618637	G	T	snp	intronic	 	 	 	 	ADAM2	Adam2	ENSG00000276286	ADAM metallopeptidase domain 2	chr8:39601254-39695808	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]		Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida.	Interaction With The Zona Pellucida	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007338;single fertilization;IEA|GO:0007339;binding of sperm to zona pellucida;TAS|GO:0007342;fusion of sperm to egg plasma membrane;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM2	https://www.uniprot.org/uniprot/Q99965		https://www.ncbi.nlm.nih.gov/omim/?term=601533	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM2&submit=Quick%0D%21567ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM2	rs10093751	0.777356	0	0	1	0	0	intronic	intronic	intronic	ADAM2	ADAM2	ENSG00000104755	Na	Na	Na	Na	Na	Na	Het;G>T	118;15|8	Hom;G>T	593;0|23
N	N	-	8	39618865	39618865	C	G	snp	intronic	 	 	 	 	ADAM2	Adam2	ENSG00000276286	ADAM metallopeptidase domain 2	chr8:39601254-39695808	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]		Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida.	Interaction With The Zona Pellucida	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007338;single fertilization;IEA|GO:0007339;binding of sperm to zona pellucida;TAS|GO:0007342;fusion of sperm to egg plasma membrane;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM2	https://www.uniprot.org/uniprot/Q99965		https://www.ncbi.nlm.nih.gov/omim/?term=601533	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM2&submit=Quick%0D%21567ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM2	rs10097616	0.519768	0	0	1	0	0	intronic	intronic	intronic	ADAM2	ADAM2	ENSG00000104755	Na	Na	Na	Na	Na	Na	Het;C>G	154;7|7	Hom;C>G	580;0|22
N	N	-	8	39644691	39644691	C	G	snp	intronic	 	 	 	 	ADAM2	Adam2	ENSG00000276286	ADAM metallopeptidase domain 2	chr8:39601254-39695808	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]		Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida.	Interaction With The Zona Pellucida	GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007338;single fertilization;IEA|GO:0007339;binding of sperm to zona pellucida;TAS|GO:0007342;fusion of sperm to egg plasma membrane;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ADAM2	https://www.uniprot.org/uniprot/Q99965		https://www.ncbi.nlm.nih.gov/omim/?term=601533	http://www.informatics.jax.org/searchtool/Search.do?query=ADAM2&submit=Quick%0D%21567ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM2	rs3779718	0.520367	0	0	1	0	0	intronic	intronic	intronic	ADAM2	ADAM2	ENSG00000104755	Na	Na	Na	Na	Na	Na	Het;C>G	122;1|4	Hom;C>G	264;0|7
N	N	-	8	40590211	40590211	A	T	snp	intronic	 	 	 	 	ZMAT4	Zmat4	ENSG00000165061	zinc finger matrin-type 4	chr8:40388109-40755352		Parkinson Disease; Waist-Hip Ratio; fasting plasma glucose; Blood Glucose; Bipolar Disorder; Arteries	 		GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA	GO:0005634;nucleus;IEA	GO:0002039;p53 binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMAT4				http://www.informatics.jax.org/searchtool/Search.do?query=ZMAT4&submit=Quick%0D%11456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMAT4	rs6996583	0.215855	0	0	1	0	0	intronic	intronic	intronic	ZMAT4	ZMAT4	ENSG00000165061	Na	Na	Na	Na	Na	Na	Het;A>T	70;1|3	Hom;A>T	125;0|5
N	N	-	8	41128410	41128410	G	A	snp	intronic	 	 	 	 	SFRP1	Sfrp1	ENSG00000104332	secreted frizzled related protein 1	chr8:41119481-41167016	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]	Bone Mineral Density; Osteoporosis; Asthma|Bronchial Hyperreactivity	Homozygous null mice are fertile and display increased trabecular bone area, decreased brain weights, slight hematological abnormalities in males, and increased heart weight in females.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0001649;osteoblast differentiation;IEP|GO:0001657;ureteric bud development;IEA|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0001954;positive regulation of cell-matrix adhesion;ISS|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0009267;cellular response to starvation;IEP|GO:0009950;dorsal/ventral axis specification;IDA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010564;regulation of cell cycle process;IMP|GO:0010629;negative regulation of gene expression;IDA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010975;regulation of neuron projection development;IEA|GO:0014034;neural crest cell fate commitment;IEA|GO:0014070;response to organic cyclic compound;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0022601;menstrual cycle phase;IEP|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030279;negative regulation of ossification;IDA|GO:0030307;positive regulation of cell growth;IDA|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0033689;negative regulation of osteoblast proliferation;IMP|GO:0035019;somatic stem cell population maintenance;IEA|GO:0042493;response to drug;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0044345;stromal-epithelial cell signaling involved in prostate gland development;IEA|GO:0045578;negative regulation of B cell differentiation;IMP|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045765;regulation of angiogenesis;ISS|GO:0045880;positive regulation of smoothened signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046546;development of primary male sexual characteristics;IEA|GO:0046676;negative regulation of insulin secretion;IDA|GO:0046851;negative regulation of bone remodeling;IMP|GO:0048147;negative regulation of fibroblast proliferation;IDA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0051496;positive regulation of stress fiber assembly;ISS|GO:0051894;positive regulation of focal adhesion assembly;ISS|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;IEA|GO:0060218;hematopoietic stem cell differentiation;IDA|GO:0060346;bone trabecula formation;IEA|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060766;negative regulation of androgen receptor signaling pathway;IDA|GO:0071305;cellular response to vitamin D;IEP|GO:0071347;cellular response to interleukin-1;IEP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071380;cellular response to prostaglandin E stimulus;IEP|GO:0071391;cellular response to estrogen stimulus;IDA|GO:0071392;cellular response to estradiol stimulus;IEP|GO:0071456;cellular response to hypoxia;IEP|GO:0071481;cellular response to X-ray;IEA|GO:0071504;cellular response to heparin;IDA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:0071773;cellular response to BMP stimulus;IEP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IGI|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090246;convergent extension involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902043;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000052;positive regulation of non-canonical Wnt signaling pathway;IDA|GO:2000054;negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification;IDA|GO:2000080;negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation;IDA|GO:2000270;negative regulation of fibroblast apoptotic process;IDA|GO:2000271;positive regulation of fibroblast apoptotic process;IDA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:0001649;osteoblast differentiation;IEP|GO:0001657;ureteric bud development;IEA|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0001954;positive regulation of cell-matrix adhesion;ISS|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0009267;cellular response to starvation;IEP|GO:0009950;dorsal/ventral axis specification;IDA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010564;regulation of cell cycle process;IMP|GO:0010629;negative regulation of gene expression;IDA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010975;regulation of neuron projection development;IEA|GO:0014034;neural crest cell fate commitment;IEA|GO:0014070;response to organic cyclic compound;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0022601;menstrual cycle phase;IEP|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030279;negative regulation of ossification;IDA|GO:0030307;positive regulation of cell growth;IDA|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0033689;negative regulation of osteoblast proliferation;IMP|GO:0035019;somatic stem cell population maintenance;IEA|GO:0042493;response to drug;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0044345;stromal-epithelial cell signaling involved in prostate gland development;IEA|GO:0045578;negative regulation of B cell differentiation;IMP|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045765;regulation of angiogenesis;ISS|GO:0045880;positive regulation of smoothened signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046546;development of primary male sexual characteristics;IEA|GO:0046676;negative regulation of insulin secretion;IDA|GO:0046851;negative regulation of bone remodeling;IMP|GO:0048147;negative regulation of fibroblast proliferation;IDA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0051496;positive regulation of stress fiber assembly;ISS|GO:0051894;positive regulation of focal adhesion assembly;ISS|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;IEA|GO:0060218;hematopoietic stem cell differentiation;IDA|GO:0060346;bone trabecula formation;IEA|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060766;negative regulation of androgen receptor signaling pathway;IDA|GO:0071305;cellular response to vitamin D;IEP|GO:0071347;cellular response to interleukin-1;IEP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071380;cellular response to prostaglandin E stimulus;IEP|GO:0071391;cellular response to estrogen stimulus;IDA|GO:0071392;cellular response to estradiol stimulus;IEP|GO:0071456;cellular response to hypoxia;IEP|GO:0071481;cellular response to X-ray;IEA|GO:0071504;cellular response to heparin;IDA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:0071773;cellular response to BMP stimulus;IEP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IGI|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090246;convergent extension involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902043;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000052;positive regulation of non-canonical Wnt signaling pathway;IDA|GO:2000054;negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification;IDA|GO:2000080;negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation;IDA|GO:2000270;negative regulation of fibroblast apoptotic process;IDA|GO:2000271;positive regulation of fibroblast apoptotic process;IDA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0005109;frizzled binding;IPI|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IDA|GO:0008201;heparin binding;IDA|GO:0017147;Wnt-protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SFRP1	https://www.uniprot.org/uniprot/Q8N474		https://www.ncbi.nlm.nih.gov/omim/?term=604156	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP1&submit=Quick%0D%35ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP1	rs11781990	0.190695	0	0	1	0	0	intronic	intronic	intronic	SFRP1	SFRP1	ENSG00000104332	Na	Na	Na	Na	Na	Na	Het;G>A	101;4|4	Hom;G>A	114;0|5
N	N	-	8	41128710	41128710	T	C	snp	intronic	 	 	 	 	SFRP1	Sfrp1	ENSG00000104332	secreted frizzled related protein 1	chr8:41119481-41167016	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]	Bone Mineral Density; Osteoporosis; Asthma|Bronchial Hyperreactivity	Homozygous null mice are fertile and display increased trabecular bone area, decreased brain weights, slight hematological abnormalities in males, and increased heart weight in females.	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	GO:0001649;osteoblast differentiation;IEP|GO:0001657;ureteric bud development;IEA|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0001954;positive regulation of cell-matrix adhesion;ISS|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0009267;cellular response to starvation;IEP|GO:0009950;dorsal/ventral axis specification;IDA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010564;regulation of cell cycle process;IMP|GO:0010629;negative regulation of gene expression;IDA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010975;regulation of neuron projection development;IEA|GO:0014034;neural crest cell fate commitment;IEA|GO:0014070;response to organic cyclic compound;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0022601;menstrual cycle phase;IEP|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030279;negative regulation of ossification;IDA|GO:0030307;positive regulation of cell growth;IDA|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0033689;negative regulation of osteoblast proliferation;IMP|GO:0035019;somatic stem cell population maintenance;IEA|GO:0042493;response to drug;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0044345;stromal-epithelial cell signaling involved in prostate gland development;IEA|GO:0045578;negative regulation of B cell differentiation;IMP|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045765;regulation of angiogenesis;ISS|GO:0045880;positive regulation of smoothened signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046546;development of primary male sexual characteristics;IEA|GO:0046676;negative regulation of insulin secretion;IDA|GO:0046851;negative regulation of bone remodeling;IMP|GO:0048147;negative regulation of fibroblast proliferation;IDA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0051496;positive regulation of stress fiber assembly;ISS|GO:0051894;positive regulation of focal adhesion assembly;ISS|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;IEA|GO:0060218;hematopoietic stem cell differentiation;IDA|GO:0060346;bone trabecula formation;IEA|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060766;negative regulation of androgen receptor signaling pathway;IDA|GO:0071305;cellular response to vitamin D;IEP|GO:0071347;cellular response to interleukin-1;IEP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071380;cellular response to prostaglandin E stimulus;IEP|GO:0071391;cellular response to estrogen stimulus;IDA|GO:0071392;cellular response to estradiol stimulus;IEP|GO:0071456;cellular response to hypoxia;IEP|GO:0071481;cellular response to X-ray;IEA|GO:0071504;cellular response to heparin;IDA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:0071773;cellular response to BMP stimulus;IEP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IGI|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090246;convergent extension involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902043;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000052;positive regulation of non-canonical Wnt signaling pathway;IDA|GO:2000054;negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification;IDA|GO:2000080;negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation;IDA|GO:2000270;negative regulation of fibroblast apoptotic process;IDA|GO:2000271;positive regulation of fibroblast apoptotic process;IDA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:0001649;osteoblast differentiation;IEP|GO:0001657;ureteric bud development;IEA|GO:0001756;somitogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0001954;positive regulation of cell-matrix adhesion;ISS|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0009267;cellular response to starvation;IEP|GO:0009950;dorsal/ventral axis specification;IDA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010564;regulation of cell cycle process;IMP|GO:0010629;negative regulation of gene expression;IDA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010975;regulation of neuron projection development;IEA|GO:0014034;neural crest cell fate commitment;IEA|GO:0014070;response to organic cyclic compound;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0021915;neural tube development;IEA|GO:0022601;menstrual cycle phase;IEP|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030279;negative regulation of ossification;IDA|GO:0030307;positive regulation of cell growth;IDA|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IDA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0033689;negative regulation of osteoblast proliferation;IMP|GO:0035019;somatic stem cell population maintenance;IEA|GO:0042493;response to drug;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043508;negative regulation of JUN kinase activity;IEA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0044345;stromal-epithelial cell signaling involved in prostate gland development;IEA|GO:0045578;negative regulation of B cell differentiation;IMP|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045765;regulation of angiogenesis;ISS|GO:0045880;positive regulation of smoothened signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046546;development of primary male sexual characteristics;IEA|GO:0046676;negative regulation of insulin secretion;IDA|GO:0046851;negative regulation of bone remodeling;IMP|GO:0048147;negative regulation of fibroblast proliferation;IDA|GO:0048546;digestive tract morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0051496;positive regulation of stress fiber assembly;ISS|GO:0051894;positive regulation of focal adhesion assembly;ISS|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;IEA|GO:0060218;hematopoietic stem cell differentiation;IDA|GO:0060346;bone trabecula formation;IEA|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060766;negative regulation of androgen receptor signaling pathway;IDA|GO:0071305;cellular response to vitamin D;IEP|GO:0071347;cellular response to interleukin-1;IEP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071380;cellular response to prostaglandin E stimulus;IEP|GO:0071391;cellular response to estrogen stimulus;IDA|GO:0071392;cellular response to estradiol stimulus;IEP|GO:0071456;cellular response to hypoxia;IEP|GO:0071481;cellular response to X-ray;IEA|GO:0071504;cellular response to heparin;IDA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:0071773;cellular response to BMP stimulus;IEP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IGI|GO:0090175;regulation of establishment of planar polarity;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0090246;convergent extension involved in somitogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902043;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1904956;regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000041;negative regulation of planar cell polarity pathway involved in axis elongation;IEA|GO:2000052;positive regulation of non-canonical Wnt signaling pathway;IDA|GO:2000054;negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification;IDA|GO:2000080;negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation;IDA|GO:2000270;negative regulation of fibroblast apoptotic process;IDA|GO:2000271;positive regulation of fibroblast apoptotic process;IDA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0005109;frizzled binding;IPI|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IDA|GO:0008201;heparin binding;IDA|GO:0017147;Wnt-protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SFRP1	https://www.uniprot.org/uniprot/Q8N474		https://www.ncbi.nlm.nih.gov/omim/?term=604156	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP1&submit=Quick%0D%35ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP1	rs11779707	0.252596	0	0.4375	1	0	0	intronic	intronic	intronic	SFRP1	SFRP1	ENSG00000104332	Na	Na	Na	Na	Na	Na	Het;T>C	204;2|9	Hom;T>C	666;0|24
N	N	-	8	41555740	41555740	A	G	snp	intronic	 	 	 	 	ANK1	Ank1	ENSG00000029534	ankyrin 1	chr8:41510739-41754280	Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]	Insulin Resistance; Hip; Amyotrophic Lateral Sclerosis|; hereditary spherocytosis; Asthma; Body Height; Hemoglobin A, Glycosylated; Prostatic Neoplasms; Tobacco Use Disorder; Alzheimer Disease; Diabetes Mellitus, Type 2; spherocytosis; Cholesterol, LDL; Insulin; Thyrotropin	Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy.	COPI-mediated anterograde transport	GO:0006887;exocytosis;NAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007165;signal transduction;IEA|GO:0010638;positive regulation of organelle organization;IEA|GO:0045199;maintenance of epithelial cell apical/basal polarity;TAS|GO:0072661;protein targeting to plasma membrane;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;NAS|GO:0014731;spectrin-associated cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;NAS|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030018;Z disc;IEA|GO:0030673;axolemma;IEA|GO:0031430;M band;IEA|GO:0031672;A band;IEA|GO:0042383;sarcolemma;IEA|GO:0043005;neuron projection;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008093;cytoskeletal adaptor activity;IDA|GO:0019899;enzyme binding;IPI|GO:0030507;spectrin binding;NAS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANK1	https://www.uniprot.org/uniprot/P16157	https://hpo.jax.org/app/browse/search?q=ANK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612641	http://www.informatics.jax.org/searchtool/Search.do?query=ANK1&submit=Quick%0D%731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK1	rs492008	0.679912	0	0	1	0	0	intronic	intronic	intronic	ANK1	ANK1,NKX6-3	ENSG00000029534	Na	Na	Na	Na	Na	Na	Het;A>G	32;7|3	Hom;A>G	225;0|8
N	N	-	8	41566635	41566635	T	TAAAC	indel	intronic	 	 	 	 	ANK1	Ank1	ENSG00000029534	ankyrin 1	chr8:41510739-41754280	Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]	Insulin Resistance; Hip; Amyotrophic Lateral Sclerosis|; hereditary spherocytosis; Asthma; Body Height; Hemoglobin A, Glycosylated; Prostatic Neoplasms; Tobacco Use Disorder; Alzheimer Disease; Diabetes Mellitus, Type 2; spherocytosis; Cholesterol, LDL; Insulin; Thyrotropin	Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy.	COPI-mediated anterograde transport	GO:0006887;exocytosis;NAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007165;signal transduction;IEA|GO:0010638;positive regulation of organelle organization;IEA|GO:0045199;maintenance of epithelial cell apical/basal polarity;TAS|GO:0072661;protein targeting to plasma membrane;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;NAS|GO:0014731;spectrin-associated cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;NAS|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030018;Z disc;IEA|GO:0030673;axolemma;IEA|GO:0031430;M band;IEA|GO:0031672;A band;IEA|GO:0042383;sarcolemma;IEA|GO:0043005;neuron projection;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005198;structural molecule activity;NAS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008093;cytoskeletal adaptor activity;IDA|GO:0019899;enzyme binding;IPI|GO:0030507;spectrin binding;NAS|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANK1	https://www.uniprot.org/uniprot/P16157	https://hpo.jax.org/app/browse/search?q=ANK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612641	http://www.informatics.jax.org/searchtool/Search.do?query=ANK1&submit=Quick%0D%731ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK1	rs10685542	0	0	0	1	0	0	intronic	intronic	intronic	ANK1	ANK1,NKX6-3	ENSG00000029534	Na	Na	Na	Na	Na	Na	Het;+AAAC	290;1|8	Hom;+AAAC	367;0|8
N	N	-	8	41962306	41962306	C	T	snp	intergenic	 	 	 	 	AC103724.1																		rs10216858	0.372804	0	0	1	0	0	intergenic	intergenic	intergenic	KAT6A(dist=52801),AP3M2(dist=48158)	KAT6A(dist=52801),AP3M2(dist=48158)	ENSG00000244235(dist=2952),ENSG00000253135(dist=23986)	Na	Na	Na	Na	Na	Na	Het;C>T	920;44|45	Hom;C>T	1884;0|67
N	N	-	8	42780832	42780832	A	AT	indel	intronic	 	 	 	 	HOOK3	Hook3	ENSG00000168172	hook microtubule tethering protein 3	chr8:42752075-42885682	Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]		 		GO:0006810;transport;IEA|GO:0007032;endosome organization;IMP|GO:0007040;lysosome organization;IMP|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0022027;interkinetic nuclear migration;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;IBA|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0034454;microtubule anchoring at centrosome;IEA|GO:0045022;early endosome to late endosome transport;IMP|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051645;Golgi localization;IMP|GO:0071539;protein localization to centrosome;IEA|GO:0097150;neuronal stem cell population maintenance;IEA	GO:0000242;pericentriolar material;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;IDA|GO:0005813;centrosome;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0030897;HOPS complex;IDA|GO:0034451;centriolar satellite;IEA|GO:0070695;FHF complex;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0042802;identical protein binding;IPI|GO:0051959;dynein light intermediate chain binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HOOK3			https://www.ncbi.nlm.nih.gov/omim/?term=607825	http://www.informatics.jax.org/searchtool/Search.do?query=HOOK3&submit=Quick%0D%12210ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HOOK3	rs34821062	0.0798722	0.1265	0	1	0	0	intronic	intronic	intronic	HOOK3	HOOK3	ENSG00000168172	Na	Na	Na	Na	Na	Na	Het;+T	370;25|20	Hom;+T	931;4|39
N	N	-	8	43156586	43156586	G	GAT	indel	ncRNA_intronic	 	 	 	 	POTEA		ENSG00000188877	POTE ankyrin domain family member A	chr8:43147626-43218661		Cholesterol, HDL						http://www.genecards.org/index.php?path=/Search/keyword/POTEA			https://www.ncbi.nlm.nih.gov/omim/?term=608915	http://www.informatics.jax.org/searchtool/Search.do?query=POTEA&submit=Quick%0D%16130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POTEA	rs3039934	0.71226	0	0	1	0	0	intronic	intronic	ncRNA_intronic	POTEA	POTEA	ENSG00000188877	Na	Na	Na	Na	Na	Na	Het;+AT	252;2|9	Hom;+AT	142;0|5
N	N	-	8	49206743	49206743	G	A	snp	ncRNA_exonic	 	 	 	 	AC105029.1																		rs13280326	0.392372	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	UBE2V2(dist=232289),LOC101929268(dist=257384)	UBE2V2(dist=232289),EFCAB1(dist=420731)	ENSG00000253654	Na	Na	Na	Na	Na	Na	Het;G>A	278;12|15	Hom;G>A	538;0|21
N	N	-	8	49643243	49643243	A	G	snp	intronic	 	 	 	 	EFCAB1	Efcab1	ENSG00000034239	EF-hand calcium binding domain 1	chr8:49623348-49647870		Death, Sudden, Cardiac; hypertension	Homozygotes for a knock-out allele show partial lethality during fetal growth and development, hydrocephaly, situs inversus, enlarged brain ventricles, cardiac hypertrophy, reduced motility and fluid flows in sperm flagella and epithelial cilia, and defects in nodal cilia formation and motility.				GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB1	https://www.uniprot.org/uniprot/Q9HAE3			http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB1&submit=Quick%0D%761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB1	rs966703	0.829073	0.8409	0.8246	1	0	0	intronic	intronic	intronic	EFCAB1	EFCAB1	ENSG00000034239	Na	Na	Na	Na	Na	Na	Het;A>G	983;34|41	Hom;A>G	2180;0|70
N	N	-	8	53071461	53071461	G	A	snp	synonymous SNV	C1698T	A566A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ST18	St18	ENSG00000147488	ST18, C2H2C-type zinc finger	chr8:53023399-53373519		Tobacco Use Disorder; Natriuretic Peptide, Brain; Hip	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST18	https://www.uniprot.org/uniprot/O60284		https://www.ncbi.nlm.nih.gov/omim/?term=617155	http://www.informatics.jax.org/searchtool/Search.do?query=ST18&submit=Quick%0D%9011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST18	rs2278152	0.0940495	0.0837	0.1165	1	0	0	exonic	exonic	exonic	ST18	ST18	ENSG00000147488	synonymous SNV	synonymous SNV	unknown	ST18:NM_014682:exon15:c.C1803T:p.A601A,	ST18:uc011ldr.1:exon11:c.C1698T:p.A566A,ST18:uc003xra.2:exon15:c.C1803T:p.A601A,ST18:uc011lds.1:exon10:c.C1518T:p.A506A,ST18:uc003xqz.2:exon10:c.C1803T:p.A601A,ST18:uc011ldq.1:exon11:c.C744T:p.A248A,ST18:uc003xrb.2:exon15:c.C1803T:p.A601A,	UNKNOWN	Het;G>A	524;29|26	Hom;G>A	1548;0|56
N	N	-	8	53079336	53079336	T	C	snp	intronic	 	 	 	 	ST18	St18	ENSG00000147488	ST18, C2H2C-type zinc finger	chr8:53023399-53373519		Tobacco Use Disorder; Natriuretic Peptide, Brain; Hip	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ST18	https://www.uniprot.org/uniprot/O60284		https://www.ncbi.nlm.nih.gov/omim/?term=617155	http://www.informatics.jax.org/searchtool/Search.do?query=ST18&submit=Quick%0D%9011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST18	rs2303457	0.294329	0	0	1	0	0	intronic	intronic	intronic	ST18	ST18	ENSG00000147488	Na	Na	Na	Na	Na	Na	Het;T>C	170;17|8	Hom;T>C	795;0|26
N	N	-	8	55435356	55435356	G	T	snp	ncRNA_exonic	 	 	 	 	SEC11B																		rs35218871	0.180112	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SOX17(dist=61900),RP1(dist=93271)	SOX17(dist=61900),RP1(dist=93271)	ENSG00000226098	Na	Na	Na	Na	Na	Na	Het;G>T	361;13|17	Hom;G>T	928;0|35
N	N	-	8	56065764	56065764	C	T	snp	intronic	 	 	 	 	XKR4	Xkr4	ENSG00000206579	XK related 4	chr8:56014949-56454613		Blood Pressure; Lipoproteins, VLDL; Cholesterol; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; iloperidone; Echocardiography; Attention Deficit Disorder with Hyperactivity; schizophrenia; Diabetic Nephropathies; Resistin; Heart Failure; Myocardial Infarction	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/XKR4				http://www.informatics.jax.org/searchtool/Search.do?query=XKR4&submit=Quick%0D%17763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XKR4	rs6992437	0.327476	0	0	1	0	0	intronic	intronic	intronic	XKR4	XKR4	ENSG00000206579	Na	Na	Na	Na	Na	Na	Het;C>T	151;1|7	Hom;C>T	149;0|5
N	N	-	8	56115934	56115934	G	T	snp	intronic	 	 	 	 	XKR4	Xkr4	ENSG00000206579	XK related 4	chr8:56014949-56454613		Blood Pressure; Lipoproteins, VLDL; Cholesterol; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; iloperidone; Echocardiography; Attention Deficit Disorder with Hyperactivity; schizophrenia; Diabetic Nephropathies; Resistin; Heart Failure; Myocardial Infarction	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/XKR4				http://www.informatics.jax.org/searchtool/Search.do?query=XKR4&submit=Quick%0D%17763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XKR4	rs11775095	0.423323	0	0	1	0	0	intronic	intronic	intronic	XKR4	XKR4	ENSG00000206579	Na	Na	Na	Na	Na	Na	Het;G>T	949;21|41	Hom;G>T	1572;0|62
N	N	-	8	58660496	58660496	A	G	snp	ncRNA_intronic	 	 	 	 	AX746596																		rs4738618	0.6252	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_intronic	LOC101929488(dist=383081),T1560(dist=230421)	AX746596	ENSG00000253322,ENSG00000254139	Na	Na	Na	Na	Na	Na	Het;A>G	271;13|13	Hom;A>G	1140;0|43
N	N	-	8	62460886	62460886	A	G	snp	intronic	 	 	 	 	ASPH	Asph	ENSG00000198363	aspartate beta-hydroxylase	chr8:62413116-62627155	This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]	Dehydroepiandrosterone; Creatinine; Hemoglobin A, Glycosylated	Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.	Ion homeostasis	GO:0006936;muscle contraction;TAS|GO:0007389;pattern specification process;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0018193;peptidyl-amino acid modification;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035108;limb morphogenesis;IEA|GO:0042264;peptidyl-aspartic acid hydroxylation;IEA|GO:0045862;positive regulation of proteolysis;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA|GO:0097202;activation of cysteine-type endopeptidase activity;IDA|GO:1901879;regulation of protein depolymerization;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0032541;cortical endoplasmic reticulum;IDA|GO:0033017;sarcoplasmic reticulum membrane;IEA	GO:0004597;peptide-aspartate beta-dioxygenase activity;TAS|GO:0005198;structural molecule activity;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASPH		https://hpo.jax.org/app/browse/search?q=ASPH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600582	http://www.informatics.jax.org/searchtool/Search.do?query=ASPH&submit=Quick%0D%16878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASPH	rs10113272	0.575879	0	0	1	0	0	intronic	intronic	intronic	ASPH	ASPH	ENSG00000198363	Na	Na	Na	Na	Na	Na	Het;A>G	206;1|6	Hom;A>G	152;0|4
N	N	-	8	62460894	62460894	G	A	snp	intronic	 	 	 	 	ASPH	Asph	ENSG00000198363	aspartate beta-hydroxylase	chr8:62413116-62627155	This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]	Dehydroepiandrosterone; Creatinine; Hemoglobin A, Glycosylated	Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.	Ion homeostasis	GO:0006936;muscle contraction;TAS|GO:0007389;pattern specification process;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0018193;peptidyl-amino acid modification;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035108;limb morphogenesis;IEA|GO:0042264;peptidyl-aspartic acid hydroxylation;IEA|GO:0045862;positive regulation of proteolysis;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA|GO:0097202;activation of cysteine-type endopeptidase activity;IDA|GO:1901879;regulation of protein depolymerization;IEA|GO:1903779;regulation of cardiac conduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0032541;cortical endoplasmic reticulum;IDA|GO:0033017;sarcoplasmic reticulum membrane;IEA	GO:0004597;peptide-aspartate beta-dioxygenase activity;TAS|GO:0005198;structural molecule activity;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASPH		https://hpo.jax.org/app/browse/search?q=ASPH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600582	http://www.informatics.jax.org/searchtool/Search.do?query=ASPH&submit=Quick%0D%16878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASPH	rs16927479	0.573882	0	0	1	0	0	intronic	intronic	intronic	ASPH	ASPH	ENSG00000198363	Na	Na	Na	Na	Na	Na	Het;G>A	134;1|3	Hom;G>A	152;0|4
N	N	-	8	63161382	63161382	C	T	snp	upstream	 	 	 	 	NKAIN3	Nkain3	ENSG00000185942	sodium/potassium transporting ATPase interacting 3	chr8:63161150-63912211	NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]	Blood Coagulation Factors; Neuroblastoma; Mental Competency; Vitamin E; Tobacco Use Disorder; Stroke	 		GO:0002028;regulation of sodium ion transport;IBA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NKAIN3			https://www.ncbi.nlm.nih.gov/omim/?term=612872	http://www.informatics.jax.org/searchtool/Search.do?query=NKAIN3&submit=Quick%0D%15528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKAIN3	rs2272015	0.538339	0	0	1	0	0	upstream	upstream	upstream	NKAIN3	NKAIN3	ENSG00000185942	Na	Na	Na	Na	Na	Na	Het;C>T	86;11|6	Hom;C>T	245;0|11
N	N	-	8	63161462	63161462	G	A	snp	upstream	 	 	 	 	NKAIN3	Nkain3	ENSG00000185942	sodium/potassium transporting ATPase interacting 3	chr8:63161150-63912211	NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]	Blood Coagulation Factors; Neuroblastoma; Mental Competency; Vitamin E; Tobacco Use Disorder; Stroke	 		GO:0002028;regulation of sodium ion transport;IBA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NKAIN3			https://www.ncbi.nlm.nih.gov/omim/?term=612872	http://www.informatics.jax.org/searchtool/Search.do?query=NKAIN3&submit=Quick%0D%15528ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKAIN3	rs2272014	0.545527	0	0	1	0	0	upstream	upstream	upstream	NKAIN3	NKAIN3	ENSG00000185942	Na	Na	Na	Na	Na	Na	Het;G>A	34;5|3	Hom;G>A	202;0|8
N	N	-	8	64381431	64381431	T	C	snp	ncRNA_exonic	 	 	 	 	LOC102724612																		rs2060103	0.158946	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724612	AK093370(dist=50943),7SK(dist=140481)	ENSG00000253894	Na	Na	Na	Na	Na	Na	Het;T>C	2159;94|90	Hom;T>C	4609;2|163
N	N	-	8	64691973	64691973	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01289																		rs1996708	0.384185	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01289	LOC286184	ENSG00000253734	Na	Na	Na	Na	Na	Na	Het;A>C	3582;155|151	Hom;A>C	9493;5|328
N	N	-	8	64693006	64693006	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01289																		rs10091567	0.415335	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01289	LOC286184	ENSG00000253734	Na	Na	Na	Na	Na	Na	Het;A>C	2799;93|119	Hom;A>C	6317;0|224
N	N	-	8	65587228	65587228	A	C	snp	intronic	 	 	 	 	CYP7B1	Cyp7b1	ENSG00000172817	cytochrome P450 family 7 subfamily B member 1	chr8:65500320-65711318	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]	HIV-1; lung cancer; bladder cancer; lipoproteins; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Schizophrenia; lung cancer ; Albumins; drug-related genes ; Alzheimer Disease	Mice homozygous for a knock-out allele show significantly increased levels of 25- and 27-hydroxycholesterol, and reduced IgA levels. Female mice homozygous for a reporter allele display early onset of puberty and early ovarian failure.	Endogenous sterols	GO:0006629;lipid metabolic process;IEA|GO:0006699;bile acid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0035754;B cell chemotaxis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008396;oxysterol 7-alpha-hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP7B1		https://hpo.jax.org/app/browse/search?q=CYP7B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603711	http://www.informatics.jax.org/searchtool/Search.do?query=CYP7B1&submit=Quick%0D%13238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP7B1	rs1986181	0.686102	0	0	1	0	0	intronic	intronic	intronic	CYP7B1	CYP7B1	ENSG00000172817	Na	Na	Na	Na	Na	Na	Het;A>C	353;22|14	Hom;A>C	1443;0|45
N	N	-	8	65711004	65711004	T	A	snp	intronic	 	 	 	 	CYP7B1	Cyp7b1	ENSG00000172817	cytochrome P450 family 7 subfamily B member 1	chr8:65500320-65711318	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]	HIV-1; lung cancer; bladder cancer; lipoproteins; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Schizophrenia; lung cancer ; Albumins; drug-related genes ; Alzheimer Disease	Mice homozygous for a knock-out allele show significantly increased levels of 25- and 27-hydroxycholesterol, and reduced IgA levels. Female mice homozygous for a reporter allele display early onset of puberty and early ovarian failure.	Endogenous sterols	GO:0006629;lipid metabolic process;IEA|GO:0006699;bile acid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0035754;B cell chemotaxis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008396;oxysterol 7-alpha-hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP7B1		https://hpo.jax.org/app/browse/search?q=CYP7B1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603711	http://www.informatics.jax.org/searchtool/Search.do?query=CYP7B1&submit=Quick%0D%13238ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP7B1	rs7842714	0.344449	0	0.4352	1	0	0	intronic	intronic	intronic	CYP7B1	CYP7B1	ENSG00000172817	Na	Na	Na	Na	Na	Na	Het;T>A	161;6|9	Hom;T>A	303;0|13
N	N	-	8	66073614	66073614	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00251																		rs10095326	0.320288	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LINC00251	LINC00251	ENSG00000239261(dist=5601),ENSG00000213873(dist=216213)	Na	Na	Na	Na	Na	Na	Het;C>T	1151;61|55	Hom;C>T	3024;1|113
N	N	-	8	66439551	66439551	T	C	snp	ncRNA_exonic	 	 	 	 	LINC01299																		rs7825011	0.588059	0	0.5700	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01299	LOC286186	ENSG00000254081	Na	Na	Na	Na	Na	Na	Het;T>C	720;35|29	Hom;T>C	1156;0|38
N	N	-	8	66444843	66444843	A	C	snp	ncRNA_exonic	 	 	 	 	LINC01299																		rs4567075	0.591254	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01299	LOC286186	ENSG00000254081	Na	Na	Na	Na	Na	Na	Het;A>C	1753;87|79	Hom;A>C	4925;0|168
N	N	-	8	67259732	67259758	GTTTAACTGACCTTACTTAACTACTTC	G	indel	intergenic	 	 	 	 	LINC00967																		rs147938371	0.133187	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00967(dist=150178),RRS1-AS1(dist=72064)	LOC100505659(dist=150178),LOC100505676(dist=72064)	ENSG00000253138(dist=150182),ENSG00000246145(dist=72066)	Na	Na	Na	Na	Na	Na	Het;-TTTAACTGACCTTACTTAACTACTTC	231;2|7	Hom;-TTTAACTGACCTTACTTAACTACTTC	143;0|4
N	N	-	8	67259762	67259763	TG	T	indel	intergenic	 	 	 	 	LINC00967																		rs201609004	0.133187	0	0	1	0	0	intergenic	intergenic	intergenic	LINC00967(dist=150208),RRS1-AS1(dist=72059)	LOC100505659(dist=150208),LOC100505676(dist=72059)	ENSG00000253138(dist=150212),ENSG00000246145(dist=72061)	Na	Na	Na	Na	Na	Na	Het;-G	231;2|6	Hom;-G	143;0|4
N	N	-	8	67335428	67335428	G	A	snp	ncRNA_exonic	 	 	 	 	RRS1-AS1																		rs28532882	0.219649	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	RRS1-AS1	LOC100505676(uc022avk.2:c.*218C>T)	ENSG00000246145	Na	Na	Na	Na	Na	Na	Het;G>A	438;23|21	Hom;G>A	1010;0|39
N	N	-	8	67361018	67361018	G	C	snp	intronic	 	 	 	 	ADHFE1	Adhfe1	ENSG00000147576	alcohol dehydrogenase, iron containing 1	chr8:67342420-67383836	The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Interconversion of 2-oxoglutarate and 2-hydroxyglutarate	GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0015993;molecular hydrogen transport;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA	GO:0004022;alcohol dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047988;hydroxyacid-oxoacid transhydrogenase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/ADHFE1	https://www.uniprot.org/uniprot/Q8IWW8		https://www.ncbi.nlm.nih.gov/omim/?term=611083	http://www.informatics.jax.org/searchtool/Search.do?query=ADHFE1&submit=Quick%0D%9021ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADHFE1	rs12544088	0.391973	0	0	1	0	0	intronic	intronic	intronic	ADHFE1	ADHFE1	ENSG00000147576	Na	Na	Na	Na	Na	Na	Het;G>C	281;13|10	Hom;G>C	630;0|20
N	N	-	8	67364359	67364359	G	A	snp	intronic	 	 	 	 	ADHFE1	Adhfe1	ENSG00000147576	alcohol dehydrogenase, iron containing 1	chr8:67342420-67383836	The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Interconversion of 2-oxoglutarate and 2-hydroxyglutarate	GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0015993;molecular hydrogen transport;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA	GO:0004022;alcohol dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047988;hydroxyacid-oxoacid transhydrogenase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/ADHFE1	https://www.uniprot.org/uniprot/Q8IWW8		https://www.ncbi.nlm.nih.gov/omim/?term=611083	http://www.informatics.jax.org/searchtool/Search.do?query=ADHFE1&submit=Quick%0D%9021ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADHFE1	rs190426715	0.00579073	0.0075	0.0118	1	0	0	intronic	intronic	intronic	ADHFE1	ADHFE1	ENSG00000147576	Na	Na	Na	Na	Na	Na	Het;G>A	1369;53|66	Hom;G>A	2380;0|83
N	N	-	8	67369184	67369184	C	T	snp	intronic	 	 	 	 	ADHFE1	Adhfe1	ENSG00000147576	alcohol dehydrogenase, iron containing 1	chr8:67342420-67383836	The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Interconversion of 2-oxoglutarate and 2-hydroxyglutarate	GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0015993;molecular hydrogen transport;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA	GO:0004022;alcohol dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047988;hydroxyacid-oxoacid transhydrogenase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/ADHFE1	https://www.uniprot.org/uniprot/Q8IWW8		https://www.ncbi.nlm.nih.gov/omim/?term=611083	http://www.informatics.jax.org/searchtool/Search.do?query=ADHFE1&submit=Quick%0D%9021ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADHFE1	rs2303519	0.223243	0	0	1	0	0	intronic	intronic	intronic	ADHFE1	ADHFE1	ENSG00000147576	Na	Na	Na	Na	Na	Na	Het;C>T	468;17|19	Hom;C>T	1288;0|43
N	N	-	8	68536470	68536470	A	G	snp	nonsynonymous SNV	T133C	F45L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CPA6	Cpa6	ENSG00000165078	carboxypeptidase A6	chr8:68334360-68658620	The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]	Hip; Body Height; Anticonvulsants; Electrocardiography; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; CD40 Ligand	 		GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;NAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPA6		https://hpo.jax.org/app/browse/search?q=CPA6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609562	http://www.informatics.jax.org/searchtool/Search.do?query=CPA6&submit=Quick%0D%11461ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPA6	rs10957393	0.232228	0.2640	0.2360	0.15	2	13	exonic	exonic	exonic	CPA6	CPA6	ENSG00000165078	nonsynonymous SNV	nonsynonymous SNV	unknown	CPA6:NM_020361:exon2:c.T133C:p.F45L,	CPA6:uc003xxq.4:exon2:c.T133C:p.F45L,CPA6:uc003xxs.2:exon2:c.T133C:p.F45L,	UNKNOWN	Het;A>G	731;29|36	Hom;A>G	1837;0|62
N	N	-	8	69389217	69389217	C	G	snp	intronic	 	 	 	 	C8orf34	A830018L16Rik	ENSG00000165084	chromosome 8 open reading frame 34	chr8:69242957-69731257		Myocardial Infarction; Blood Pressure; Breath Tests	 					http://www.genecards.org/index.php?path=/Search/keyword/C8orf34				http://www.informatics.jax.org/searchtool/Search.do?query=C8orf34&submit=Quick%0D%11462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C8orf34	rs1517114	0.683506	0	0	1	0	0	intronic	intronic	intronic	C8orf34	C8orf34	ENSG00000165084	Na	Na	Na	Na	Na	Na	Het;C>G	297;13|13	Hom;C>G	535;0|21
N	N	-	8	7000562	7000562	C	CT	indel	downstream	 	 	 	 	SNRPCP6																		rs142611495	0.567891	0	0	1	0	0	intergenic	intergenic	downstream	DEFA5(dist=86301),LINC00965(dist=117579)	DEFA5(dist=86303),BC030294(dist=9677)	ENSG00000254683	Na	Na	Na	Na	Na	Na	Het;+T	665;2|26	Hom;+T	1029;0|29
N	N	-	8	70554689	70554689	A	G	snp	intronic	 	 	 	 	SULF1	Sulf1	ENSG00000137573	sulfatase 1	chr8:70378859-70573150	This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Narcolepsy; Body Height; Tobacco Use Disorder	Mice homozygous for a null allele display a slight increase in mortality early in life.		GO:0001822;kidney development;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002063;chondrocyte development;ISS|GO:0003094;glomerular filtration;ISS|GO:0006915;apoptotic process;IEA|GO:0008152;metabolic process;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;ISS|GO:0014846;esophagus smooth muscle contraction;ISS|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0032836;glomerular basement membrane development;ISS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IDA|GO:0048706;embryonic skeletal system development;ISS|GO:0051216;cartilage development;ISS|GO:0060348;bone development;ISS|GO:0060384;innervation;ISS|GO:0060686;negative regulation of prostatic bud formation;ISS	GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0045121;membrane raft;IDA	GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SULF1	https://www.uniprot.org/uniprot/Q8IWU6		https://www.ncbi.nlm.nih.gov/omim/?term=610012	http://www.informatics.jax.org/searchtool/Search.do?query=SULF1&submit=Quick%0D%7565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF1	rs7814130	0.521366	0	0	1	0	0	intronic	intronic	intronic	SULF1	SULF1	ENSG00000137573	Na	Na	Na	Na	Na	Na	Het;A>G	232;5|10	Hom;A>G	363;0|11
N	N	-	8	70571313	70571313	G	A	snp	nonsynonymous SNV	G599A	R200H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	SULF1	Sulf1	ENSG00000137573	sulfatase 1	chr8:70378859-70573150	This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Narcolepsy; Body Height; Tobacco Use Disorder	Mice homozygous for a null allele display a slight increase in mortality early in life.		GO:0001822;kidney development;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002063;chondrocyte development;ISS|GO:0003094;glomerular filtration;ISS|GO:0006915;apoptotic process;IEA|GO:0008152;metabolic process;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;ISS|GO:0014846;esophagus smooth muscle contraction;ISS|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0032836;glomerular basement membrane development;ISS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IDA|GO:0048706;embryonic skeletal system development;ISS|GO:0051216;cartilage development;ISS|GO:0060348;bone development;ISS|GO:0060384;innervation;ISS|GO:0060686;negative regulation of prostatic bud formation;ISS	GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0045121;membrane raft;IDA	GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SULF1	https://www.uniprot.org/uniprot/Q8IWU6		https://www.ncbi.nlm.nih.gov/omim/?term=610012	http://www.informatics.jax.org/searchtool/Search.do?query=SULF1&submit=Quick%0D%7565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF1	rs3802278	0.331669	0	0.2722	1	0	0	UTR3	exonic	UTR3	SULF1(NM_015170:c.*543G>A,NM_001128204:c.*543G>A,NM_001128205:c.*543G>A,NM_001128206:c.*543G>A)	SULF1	ENSG00000137573(ENST00000260128:c.*543G>A,ENST00000458141:c.*543G>A,ENST00000402687:c.*543G>A,ENST00000419716:c.*543G>A,ENST00000531512:c.*643G>A)	Na	nonsynonymous SNV	Na	Na	SULF1:uc003xyi.1:exon6:c.G599A:p.R200H,SULF1:uc003xyj.1:exon4:c.G599A:p.R200H,	Na	Het;G>A	2681;85|122	Hom;G>A	4156;0|152
N	N	-	8	70571531	70571531	G	A	snp	nonsynonymous SNV	G817A	A273T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SULF1	Sulf1	ENSG00000137573	sulfatase 1	chr8:70378859-70573150	This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Narcolepsy; Body Height; Tobacco Use Disorder	Mice homozygous for a null allele display a slight increase in mortality early in life.		GO:0001822;kidney development;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002063;chondrocyte development;ISS|GO:0003094;glomerular filtration;ISS|GO:0006915;apoptotic process;IEA|GO:0008152;metabolic process;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;ISS|GO:0014846;esophagus smooth muscle contraction;ISS|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0032836;glomerular basement membrane development;ISS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IDA|GO:0048706;embryonic skeletal system development;ISS|GO:0051216;cartilage development;ISS|GO:0060348;bone development;ISS|GO:0060384;innervation;ISS|GO:0060686;negative regulation of prostatic bud formation;ISS	GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0045121;membrane raft;IDA	GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SULF1	https://www.uniprot.org/uniprot/Q8IWU6		https://www.ncbi.nlm.nih.gov/omim/?term=610012	http://www.informatics.jax.org/searchtool/Search.do?query=SULF1&submit=Quick%0D%7565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF1	rs6990375	0.3125	0	0.3475	1	0	0	UTR3	exonic	UTR3	SULF1(NM_015170:c.*761G>A,NM_001128204:c.*761G>A,NM_001128205:c.*761G>A,NM_001128206:c.*761G>A)	SULF1	ENSG00000137573(ENST00000260128:c.*761G>A,ENST00000458141:c.*761G>A,ENST00000402687:c.*761G>A,ENST00000419716:c.*761G>A,ENST00000531512:c.*861G>A)	Na	nonsynonymous SNV	Na	Na	SULF1:uc003xyi.1:exon6:c.G817A:p.A273T,SULF1:uc003xyj.1:exon4:c.G817A:p.A273T,	Na	Het;G>A	1723;102|80	Hom;G>A	4722;2|173
N	N	-	8	70573004	70573004	G	A	snp	UTR3	*2234G>A	 	 	 	SULF1	Sulf1	ENSG00000137573	sulfatase 1	chr8:70378859-70573150	This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Narcolepsy; Body Height; Tobacco Use Disorder	Mice homozygous for a null allele display a slight increase in mortality early in life.		GO:0001822;kidney development;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002063;chondrocyte development;ISS|GO:0003094;glomerular filtration;ISS|GO:0006915;apoptotic process;IEA|GO:0008152;metabolic process;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;ISS|GO:0014846;esophagus smooth muscle contraction;ISS|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0032836;glomerular basement membrane development;ISS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IDA|GO:0048706;embryonic skeletal system development;ISS|GO:0051216;cartilage development;ISS|GO:0060348;bone development;ISS|GO:0060384;innervation;ISS|GO:0060686;negative regulation of prostatic bud formation;ISS	GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0045121;membrane raft;IDA	GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SULF1	https://www.uniprot.org/uniprot/Q8IWU6		https://www.ncbi.nlm.nih.gov/omim/?term=610012	http://www.informatics.jax.org/searchtool/Search.do?query=SULF1&submit=Quick%0D%7565ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF1	rs3087714	0.302516	0	0	1	0	0	UTR3	UTR3	UTR3	SULF1(NM_015170:c.*2234G>A,NM_001128204:c.*2234G>A,NM_001128205:c.*2234G>A,NM_001128206:c.*2234G>A)	SULF1(uc010lza.1:c.*2234G>A,uc003xyd.2:c.*2234G>A,uc003xye.2:c.*2234G>A,uc003xyf.2:c.*2234G>A,uc003xyg.2:c.*2234G>A,uc003xyi.1:c.*1447G>A,uc003xyj.1:c.*1447G>A)	ENSG00000137573(ENST00000260128:c.*2234G>A,ENST00000458141:c.*2234G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1210;73|61	Hom;G>A	2462;2|93
N	N	-	8	7085393	7085393	T	G	snp	intergenic	 	 	 	 	AF228730.3																		rs60118175	0.642971	0	0	1	0	0	intergenic	intergenic	intergenic	DEFA5(dist=171132),LINC00965(dist=32748)	BC030294(dist=40971),FLJ00326(dist=32748)	ENSG00000231930(dist=27014),ENSG00000255025(dist=10415)	Na	Na	Na	Na	Na	Na	Het;T>G	118;2|7	Hom;T>G	438;0|16
N	N	-	8	72111599	72111599	A	G	snp	synonymous SNV	T1737C	H579H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	EYA1	Eya1	ENSG00000104313	EYA transcriptional coactivator and phosphatase 1	chr8:72109668-72274467	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]	Blood Pressure; Body Height; Sleep; Cleft Lip|Cleft Palate; sleepiness; Celiac Disease|	Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007501;mesodermal cell fate specification;IEA|GO:0007605;sensory perception of sound;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0014706;striated muscle tissue development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IDA|GO:0016925;protein sumoylation;ISS|GO:0030154;cell differentiation;IBA|GO:0034613;cellular protein localization;IEA|GO:0035088;establishment or maintenance of apical/basal cell polarity;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0042471;ear morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042473;outer ear morphogenesis;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0045165;cell fate commitment;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045739;positive regulation of DNA repair;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048665;neuron fate specification;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048752;semicircular canal morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060487;lung epithelial cell differentiation;IEA|GO:0071599;otic vesicle development;IEA|GO:0071600;otic vesicle morphogenesis;IEA|GO:0072513;positive regulation of secondary heart field cardioblast proliferation;IEA|GO:0090103;cochlea morphogenesis;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0032993;protein-DNA complex;IEA|GO:0043234;protein complex;IEA	GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYA1	https://www.uniprot.org/uniprot/Q99502	https://hpo.jax.org/app/browse/search?q=EYA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601653	http://www.informatics.jax.org/searchtool/Search.do?query=EYA1&submit=Quick%0D%3100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA1	rs10103397	0.476637	0.3196	0.3958	1	0	0	exonic	exonic	exonic	EYA1	EYA1	ENSG00000104313	synonymous SNV	synonymous SNV	unknown	EYA1:NM_172059:exon16:c.T1650C:p.H550H,EYA1:NM_001288575:exon18:c.T1389C:p.H463H,EYA1:NM_000503:exon18:c.T1755C:p.H585H,EYA1:NM_172060:exon16:c.T1656C:p.H552H,EYA1:NM_172058:exon17:c.T1755C:p.H585H,EYA1:NM_001288574:exon18:c.T1737C:p.H579H,	EYA1:uc011lfe.2:exon18:c.T1737C:p.H579H,EYA1:uc003xyu.3:exon18:c.T1755C:p.H585H,EYA1:uc003xyv.3:exon18:c.T1389C:p.H463H,EYA1:uc003xyt.4:exon16:c.T1656C:p.H552H,EYA1:uc003xyr.4:exon16:c.T1650C:p.H550H,EYA1:uc010lzf.3:exon16:c.T1536C:p.H512H,EYA1:uc003xys.4:exon17:c.T1755C:p.H585H,	UNKNOWN	Het;A>G	1691;69|82	Hom;A>G	4315;2|162
N	N	-	8	72111678	72111678	T	C	snp	ncRNA_intronic	 	 	 	 	AC022858.1																		rs10090382	0.47504	0.3185	0.4037	1	0	0	intronic	intronic	ncRNA_intronic	EYA1	EYA1	ENSG00000254031	Na	Na	Na	Na	Na	Na	Het;T>C	1047;47|49	Hom;T>C	2799;0|109
N	N	-	8	72111739	72111739	G	C	snp	ncRNA_intronic	 	 	 	 	AC022858.1																		rs10103852	0.472843	0	0	1	0	0	intronic	intronic	ncRNA_intronic	EYA1	EYA1	ENSG00000254031	Na	Na	Na	Na	Na	Na	Het;G>C	335;11|12	Hom;G>C	936;0|26
N	N	-	8	72127563	72127563	G	A	snp	intronic	 	 	 	 	EYA1	Eya1	ENSG00000104313	EYA transcriptional coactivator and phosphatase 1	chr8:72109668-72274467	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]	Blood Pressure; Body Height; Sleep; Cleft Lip|Cleft Palate; sleepiness; Celiac Disease|	Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007501;mesodermal cell fate specification;IEA|GO:0007605;sensory perception of sound;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0014706;striated muscle tissue development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IDA|GO:0016925;protein sumoylation;ISS|GO:0030154;cell differentiation;IBA|GO:0034613;cellular protein localization;IEA|GO:0035088;establishment or maintenance of apical/basal cell polarity;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0042471;ear morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042473;outer ear morphogenesis;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0045165;cell fate commitment;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045739;positive regulation of DNA repair;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048665;neuron fate specification;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048752;semicircular canal morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060487;lung epithelial cell differentiation;IEA|GO:0071599;otic vesicle development;IEA|GO:0071600;otic vesicle morphogenesis;IEA|GO:0072513;positive regulation of secondary heart field cardioblast proliferation;IEA|GO:0090103;cochlea morphogenesis;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0032993;protein-DNA complex;IEA|GO:0043234;protein complex;IEA	GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYA1	https://www.uniprot.org/uniprot/Q99502	https://hpo.jax.org/app/browse/search?q=EYA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601653	http://www.informatics.jax.org/searchtool/Search.do?query=EYA1&submit=Quick%0D%3100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA1	rs7846086	0.430312	0	0	1	0	0	intronic	intronic	intronic	EYA1	EYA1	ENSG00000104313	Na	Na	Na	Na	Na	Na	Het;G>A	174;9|9	Hom;G>A	801;1|28
N	N	-	8	72127764	72127764	C	A	snp	intronic	 	 	 	 	EYA1	Eya1	ENSG00000104313	EYA transcriptional coactivator and phosphatase 1	chr8:72109668-72274467	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]	Blood Pressure; Body Height; Sleep; Cleft Lip|Cleft Palate; sleepiness; Celiac Disease|	Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007501;mesodermal cell fate specification;IEA|GO:0007605;sensory perception of sound;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0014706;striated muscle tissue development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IDA|GO:0016925;protein sumoylation;ISS|GO:0030154;cell differentiation;IBA|GO:0034613;cellular protein localization;IEA|GO:0035088;establishment or maintenance of apical/basal cell polarity;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0042471;ear morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042473;outer ear morphogenesis;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0045165;cell fate commitment;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045739;positive regulation of DNA repair;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048665;neuron fate specification;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048752;semicircular canal morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060487;lung epithelial cell differentiation;IEA|GO:0071599;otic vesicle development;IEA|GO:0071600;otic vesicle morphogenesis;IEA|GO:0072513;positive regulation of secondary heart field cardioblast proliferation;IEA|GO:0090103;cochlea morphogenesis;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0032993;protein-DNA complex;IEA|GO:0043234;protein complex;IEA	GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYA1	https://www.uniprot.org/uniprot/Q99502	https://hpo.jax.org/app/browse/search?q=EYA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601653	http://www.informatics.jax.org/searchtool/Search.do?query=EYA1&submit=Quick%0D%3100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA1	rs3735935	0.43111	0.2733	0.3670	1	0	0	intronic	intronic	intronic	EYA1	EYA1	ENSG00000104313	Na	Na	Na	Na	Na	Na	Het;C>A	811;43|39	Hom;C>A	2016;0|73
N	N	-	8	72128874	72128874	G	A	snp	intronic	 	 	 	 	EYA1	Eya1	ENSG00000104313	EYA transcriptional coactivator and phosphatase 1	chr8:72109668-72274467	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]	Blood Pressure; Body Height; Sleep; Cleft Lip|Cleft Palate; sleepiness; Celiac Disease|	Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007501;mesodermal cell fate specification;IEA|GO:0007605;sensory perception of sound;TAS|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0014706;striated muscle tissue development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IDA|GO:0016925;protein sumoylation;ISS|GO:0030154;cell differentiation;IBA|GO:0034613;cellular protein localization;IEA|GO:0035088;establishment or maintenance of apical/basal cell polarity;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0042471;ear morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042473;outer ear morphogenesis;IEA|GO:0042474;middle ear morphogenesis;IEA|GO:0045165;cell fate commitment;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045739;positive regulation of DNA repair;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048665;neuron fate specification;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048752;semicircular canal morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060487;lung epithelial cell differentiation;IEA|GO:0071599;otic vesicle development;IEA|GO:0071600;otic vesicle morphogenesis;IEA|GO:0072513;positive regulation of secondary heart field cardioblast proliferation;IEA|GO:0090103;cochlea morphogenesis;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0032993;protein-DNA complex;IEA|GO:0043234;protein complex;IEA	GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EYA1	https://www.uniprot.org/uniprot/Q99502	https://hpo.jax.org/app/browse/search?q=EYA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601653	http://www.informatics.jax.org/searchtool/Search.do?query=EYA1&submit=Quick%0D%3100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA1	rs4737312	0.425319	0	0	1	0	0	intronic	intronic	intronic	EYA1	EYA1	ENSG00000104313	Na	Na	Na	Na	Na	Na	Het;G>A	314;39|16	Hom;G>A	959;0|33
N	N	-	8	72624303	72624303	A	G	snp	intergenic	 	 	 	 	AC009446.1																		rs7465228	0.426318	0	0	1	0	0	intergenic	intergenic	intergenic	EYA1(dist=349836),MSC(dist=129474)	BC048982(dist=164411),MSC(dist=129474)	ENSG00000254277(dist=9282),ENSG00000253287(dist=67537)	Na	Na	Na	Na	Na	Na	Het;A>G	184;5|6	Hom;A>G	335;0|9
N	N	-	8	72624409	72624409	C	A	snp	intergenic	 	 	 	 	AC009446.1																		rs7465289	0.426518	0	0	1	0	0	intergenic	intergenic	intergenic	EYA1(dist=349942),MSC(dist=129368)	BC048982(dist=164517),MSC(dist=129368)	ENSG00000254277(dist=9388),ENSG00000253287(dist=67431)	Na	Na	Na	Na	Na	Na	Het;C>A	1337;45|66	Hom;C>A	3570;0|134
N	N	-	8	72624600	72624600	T	C	snp	intergenic	 	 	 	 	AC009446.1																		rs7463045	0.550519	0	0	1	0	0	intergenic	intergenic	intergenic	EYA1(dist=350133),MSC(dist=129177)	BC048982(dist=164708),MSC(dist=129177)	ENSG00000254277(dist=9579),ENSG00000253287(dist=67240)	Na	Na	Na	Na	Na	Na	Het;T>C	176;9|7	Hom;T>C	457;0|15
N	N	-	8	73662378	73662378	A	C	snp	ncRNA_intronic	 	 	 	 	LOC101926908																		rs62518137	0.135783	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	LOC101926908	KCNB2	ENSG00000253726	Na	Na	Na	Na	Na	Na	Het;A>C	180;4|7	Hom;A>C	264;0|8
N	N	-	8	73663403	73663403	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101926908																		rs62518138	0.135982	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101926908	KCNB2	ENSG00000253726	Na	Na	Na	Na	Na	Na	Het;T>C	1508;106|70	Hom;T>C	4754;0|165
N	N	-	8	73663440	73663440	C	A	snp	ncRNA_exonic	 	 	 	 	LOC101926908																		rs62518139	0.132987	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101926908	KCNB2	ENSG00000253726	Na	Na	Na	Na	Na	Na	Het;C>A	1608;140|88	Hom;C>A	4685;0|175
N	N	-	8	73663908	73663908	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101926908																		rs1025802	0.135982	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_exonic	LOC101926908	KCNB2	ENSG00000253726	Na	Na	Na	Na	Na	Na	Het;T>C	1994;71|85	Hom;T>C	3834;2|131
N	N	-	8	73982161	73982161	A	G	snp	nonsynonymous SNV	T556C	W186R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	SBSPON	Sbspon	ENSG00000164764	somatomedin B and thrombospondin type 1 domain containing	chr8:73976775-74036323		Lipids; Crohn Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0030247;polysaccharide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBSPON				http://www.informatics.jax.org/searchtool/Search.do?query=SBSPON&submit=Quick%0D%11387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBSPON	rs2291219	0.575679	0.7161	0.6370	0.15	2	13	exonic	exonic	exonic	SBSPON	SBSPON	ENSG00000164764	nonsynonymous SNV	nonsynonymous SNV	unknown	SBSPON:NM_153225:exon4:c.T556C:p.W186R,	SBSPON:uc003xzf.3:exon4:c.T556C:p.W186R,	UNKNOWN	Het;A>G	1105;37|49	Hom;A>G	2992;0|110
N	N	-	8	73983988	73983990	TAA	T	indel	intronic	 	 	 	 	SBSPON	Sbspon	ENSG00000164764	somatomedin B and thrombospondin type 1 domain containing	chr8:73976775-74036323		Lipids; Crohn Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0030247;polysaccharide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBSPON				http://www.informatics.jax.org/searchtool/Search.do?query=SBSPON&submit=Quick%0D%11387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBSPON	rs3830249	0	0	0.4902	1	0	0	intronic	intronic	intronic	SBSPON	SBSPON	ENSG00000164764	Na	Na	Na	Na	Na	Na	Het;-AA	442;15|11	Hom;-AA	1739;0|39
N	N	-	8	73983994	73983994	A	T	snp	intronic	 	 	 	 	SBSPON	Sbspon	ENSG00000164764	somatomedin B and thrombospondin type 1 domain containing	chr8:73976775-74036323		Lipids; Crohn Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0030247;polysaccharide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBSPON				http://www.informatics.jax.org/searchtool/Search.do?query=SBSPON&submit=Quick%0D%11387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBSPON	rs114487364	0	0	0.3915	1	0	0	intronic	intronic	intronic	SBSPON	SBSPON	ENSG00000164764	Na	Na	Na	Na	Na	Na	Het;A>T	382;16|11	Hom;A>T	1748;0|41
N	N	-	8	74005131	74005131	A	G	snp	nonsynonymous SNV	T172C	F58L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SBSPON	Sbspon	ENSG00000164764	somatomedin B and thrombospondin type 1 domain containing	chr8:73976775-74036323		Lipids; Crohn Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0030247;polysaccharide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SBSPON				http://www.informatics.jax.org/searchtool/Search.do?query=SBSPON&submit=Quick%0D%11387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SBSPON	rs59331088	0.367212	0.3665	0.2938	0.15	2	13	exonic	exonic	exonic	SBSPON	SBSPON	ENSG00000164764	nonsynonymous SNV	nonsynonymous SNV	unknown	SBSPON:NM_153225:exon1:c.T172C:p.F58L,	SBSPON:uc003xzf.3:exon1:c.T172C:p.F58L,	UNKNOWN	Het;A>G	556;21|29	Hom;A>G	881;0|35
N	N	-	8	74335014	74335014	T	TAGAAAGAC	indel	ncRNA_intronic	 	 	 	 	STAU2-AS1																		rs397763067	0.00379393	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	STAU2-AS1	STAU2,STAU2-AS1	ENSG00000253302	Na	Na	Na	Na	Na	Na	Het;+AGAAAGAC	679;13|18	Hom;+AGAAAGAC	957;0|23
N	N	-	8	74440125	74440125	T	TCAGGAAAATTCAAATAATTTA	indel	intronic	 	 	 	 	STAU2	Stau2	ENSG00000040341	staufen double-stranded RNA binding protein 2	chr8:74332604-74659943	Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]	Multiple Sclerosis; Body Mass Index; Body Weight Changes	 		GO:0006810;transport;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA	GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STAU2	https://www.uniprot.org/uniprot/Q9NUL3		https://www.ncbi.nlm.nih.gov/omim/?term=605920	http://www.informatics.jax.org/searchtool/Search.do?query=STAU2&submit=Quick%0D%817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAU2	rs143916422	0.874002	0	0	1	0	0	intronic	intronic	intronic	STAU2	STAU2	ENSG00000040341	Na	Na	Na	Na	Na	Na	Het;+CAGGAAAATTCAAATAATTTA	921;46|28	Hom;+CAGGAAAATTCAAATAATTTA	2152;0|52
N	N	-	8	75569801	75569801	G	A	snp	ncRNA_intronic	 	 	 	 	FLJ39080																		rs2010802	0.401957	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intronic	MIR2052HG	FLJ39080	ENSG00000254349	Na	Na	Na	Na	Na	Na	Het;G>A	203;1|7	Hom;G>A	129;0|5
N	N	-	8	77826830	77826830	T	C	snp	intergenic	 	 	 	 	AC023200.1																		rs28515161	0.44389	0	0	1	0	0	intergenic	intergenic	intergenic	ZFHX4(dist=47309),MIR3149(dist=52174)	ZFHX4(dist=47309),PEX2(dist=65664)	ENSG00000253416(dist=1195),ENSG00000266712(dist=52174)	Na	Na	Na	Na	Na	Na	Het;T>C	379;16|17	Hom;T>C	683;0|26
N	N	-	8	79591017	79591017	G	C	snp	intronic	 	 	 	 	ZC2HC1A	Zc2hc1a	ENSG00000104427	zinc finger C2HC-type containing 1A	chr8:79578282-79632000			 				GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC2HC1A	https://www.uniprot.org/uniprot/Q96GY0			http://www.informatics.jax.org/searchtool/Search.do?query=ZC2HC1A&submit=Quick%0D%3123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC2HC1A	rs28429528	0.717452	0	0	1	0	0	intronic	intronic	intronic	ZC2HC1A	ZC2HC1A	ENSG00000104427	Na	Na	Na	Na	Na	Na	Het;G>C	229;5|9	Hom;G>C	461;0|13
N	N	-	8	79601420	79601420	T	C	snp	intronic	 	 	 	 	ZC2HC1A	Zc2hc1a	ENSG00000104427	zinc finger C2HC-type containing 1A	chr8:79578282-79632000			 				GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC2HC1A	https://www.uniprot.org/uniprot/Q96GY0			http://www.informatics.jax.org/searchtool/Search.do?query=ZC2HC1A&submit=Quick%0D%3123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC2HC1A	rs1872072	0.676318	0.6315	0.7316	1	0	0	intronic	intronic	intronic	ZC2HC1A	ZC2HC1A	ENSG00000104427	Na	Na	Na	Na	Na	Na	Het;T>C	221;8|9	Hom;T>C	600;0|19
N	N	-	8	79610710	79610710	A	G	snp	synonymous SNV	A666G	L222L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZC2HC1A	Zc2hc1a	ENSG00000104427	zinc finger C2HC-type containing 1A	chr8:79578282-79632000			 				GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZC2HC1A	https://www.uniprot.org/uniprot/Q96GY0			http://www.informatics.jax.org/searchtool/Search.do?query=ZC2HC1A&submit=Quick%0D%3123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC2HC1A	rs1054283	0.717252	0.6703	0.7381	1	0	0	exonic	exonic	exonic	ZC2HC1A	ZC2HC1A	ENSG00000104427	synonymous SNV	synonymous SNV	unknown	ZC2HC1A:NM_016010:exon7:c.A666G:p.L222L,	ZC2HC1A:uc003ybd.3:exon7:c.A666G:p.L222L,	UNKNOWN	Het;A>G	485;32|25	Hom;A>G	1527;0|58
N	N	-	8	79635243	79635243	A	C	snp	ncRNA_exonic	 	 	 	 	LOC101241902																		rs1483572	0.534744	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	LOC101241902	LOC101241902	ENSG00000254352	Na	Na	Na	Na	Na	Na	Het;A>C	508;28|20	Hom;A>C	1915;0|65
N	N	-	8	79635327	79635327	A	AATATATAT	indel	ncRNA_exonic	 	 	 	 	LOC101241902																		rs71264200	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	LOC101241902	LOC101241902	ENSG00000254352	Na	Na	Na	Na	Na	Na	Het;+ATATATAT	307;15|11	Hom;+ATATATAT	762;1|21
N	N	-	8	79635969	79635969	C	A	snp	ncRNA_exonic	 	 	 	 	LOC101241902																		rs2046338	0.675519	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	downstream	LOC101241902	LOC101241902	ENSG00000254352	Na	Na	Na	Na	Na	Na	Het;C>A	880;36|41	Hom;C>A	2565;1|92
N	N	-	8	79636518	79636518	T	C	snp	ncRNA_exonic	 	 	 	 	LOC101241902																		rs2046339	0.717053	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	LOC101241902	LOC101241902	ENSG00000254352	Na	Na	Na	Na	Na	Na	Het;T>C	1312;76|67	Hom;T>C	4692;0|111
N	N	-	8	79636542	79636542	G	T	snp	ncRNA_exonic	 	 	 	 	LOC101241902																		rs2717544	0.792732	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	LOC101241902	LOC101241902	ENSG00000254352	Na	Na	Na	Na	Na	Na	Het;G>T	1172;67|62	Hom;G>T	4438;0|102
N	N	-	8	7973682	7973683	CT	C	indel	downstream	 	 	 	 	SNRPCP17																		rs368009076	0	0	0	1	0	0	intergenic	intergenic	downstream	MIR548I3(dist=27071),FAM86B3P(dist=112409)	MIR548I3(dist=27071),FAM86B3P(dist=112409)	ENSG00000254311	Na	Na	Na	Na	Na	Na	Het;-T	201;2|11	Hom;-T	286;1|14
N	N	-	8	8045118	8045118	A	G	snp	ncRNA_intronic	 	 	 	 	ENPP7P1																		rs2970220	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MIR548I3(dist=98507),FAM86B3P(dist=40974)	MIR548I3(dist=98507),FAM86B3P(dist=40974)	ENSG00000249188,ENSG00000253893	Na	Na	Na	Na	Na	Na	Het;A>G	128;3|4	Hom;A>G	155;0|5
N	N	-	8	80965739	80965739	C	T	snp	intronic	 	 	 	 	TPD52	Tpd52	ENSG00000076554	tumor protein D52	chr8:80870571-81143467		Prostatic Neoplasms; Osteoporosis; kidney aging; Tobacco Use Disorder	 	Golgi Associated Vesicle Biogenesis	GO:0009653;anatomical structure morphogenesis;TAS|GO:0030183;B cell differentiation;IEP|GO:0046903;secretion;TAS	GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TPD52	https://www.uniprot.org/uniprot/P55327		https://www.ncbi.nlm.nih.gov/omim/?term=604068	http://www.informatics.jax.org/searchtool/Search.do?query=TPD52&submit=Quick%0D%1586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPD52	rs2303446	0.554513	0	0	1	0	0	intronic	intronic	intronic	TPD52	TPD52	ENSG00000076554	Na	Na	Na	Na	Na	Na	Het;C>T	796;25|36	Hom;C>T	1203;0|44
N	N	-	8	81057575	81057575	T	C	snp	intronic	 	 	 	 	TPD52	Tpd52	ENSG00000076554	tumor protein D52	chr8:80870571-81143467		Prostatic Neoplasms; Osteoporosis; kidney aging; Tobacco Use Disorder	 	Golgi Associated Vesicle Biogenesis	GO:0009653;anatomical structure morphogenesis;TAS|GO:0030183;B cell differentiation;IEP|GO:0046903;secretion;TAS	GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TPD52	https://www.uniprot.org/uniprot/P55327		https://www.ncbi.nlm.nih.gov/omim/?term=604068	http://www.informatics.jax.org/searchtool/Search.do?query=TPD52&submit=Quick%0D%1586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPD52	rs1863437	0.420128	0	0	1	0	0	intronic	intronic	intronic	TPD52	TPD52	ENSG00000076554	Na	Na	Na	Na	Na	Na	Het;T>C	483;11|18	Hom;T>C	959;0|31
N	N	-	8	81057859	81057859	C	T	snp	intronic	 	 	 	 	TPD52	Tpd52	ENSG00000076554	tumor protein D52	chr8:80870571-81143467		Prostatic Neoplasms; Osteoporosis; kidney aging; Tobacco Use Disorder	 	Golgi Associated Vesicle Biogenesis	GO:0009653;anatomical structure morphogenesis;TAS|GO:0030183;B cell differentiation;IEP|GO:0046903;secretion;TAS	GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TPD52	https://www.uniprot.org/uniprot/P55327		https://www.ncbi.nlm.nih.gov/omim/?term=604068	http://www.informatics.jax.org/searchtool/Search.do?query=TPD52&submit=Quick%0D%1586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPD52	rs1863438	0.420128	0	0	1	0	0	intronic	intronic	intronic	TPD52	TPD52	ENSG00000076554	Na	Na	Na	Na	Na	Na	Het;C>T	337;3|11	Hom;C>T	355;0|10
N	N	-	8	81506995	81506995	C	G	snp	downstream	 	 	 	 	SLC25A51P3																		rs72603863	0.216653	0	0	1	0	0	intergenic	intergenic	downstream	ZBTB10(dist=68495),ZNF704(dist=33691)	ZBTB10(dist=68495),ZNF704(dist=33691)	ENSG00000254181	Na	Na	Na	Na	Na	Na	Het;C>G	578;27|26	Hom;C>G	1718;0|58
N	N	-	8	82355518	82355518	A	G	snp	UTR3	*115T>C	 	 	 	PMP2	Pmp2	ENSG00000147588	peripheral myelin protein 2	chr8:82352561-82359758		Monocytes	Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure.		GO:0006810;transport;IEA|GO:0061024;membrane organization;IEA	GO:0005737;cytoplasm;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PMP2	https://www.uniprot.org/uniprot/P02689	https://hpo.jax.org/app/browse/search?q=PMP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=170715	http://www.informatics.jax.org/searchtool/Search.do?query=PMP2&submit=Quick%0D%9023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PMP2	rs6990882	0.351438	0	0	1	0	0	UTR3	UTR3	ncRNA_intronic	PMP2(NM_002677:c.*115T>C)	PMP2(uc003ycb.1:c.*115T>C)	ENSG00000253859	Na	Na	Na	Na	Na	Na	Het;A>G	69;2|4	Hom;A>G	333;0|9
N	N	-	8	82357112	82357112	T	C	snp	synonymous SNV	A186G	E62E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PMP2	Pmp2	ENSG00000147588	peripheral myelin protein 2	chr8:82352561-82359758		Monocytes	Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure.		GO:0006810;transport;IEA|GO:0061024;membrane organization;IEA	GO:0005737;cytoplasm;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PMP2	https://www.uniprot.org/uniprot/P02689	https://hpo.jax.org/app/browse/search?q=PMP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=170715	http://www.informatics.jax.org/searchtool/Search.do?query=PMP2&submit=Quick%0D%9023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PMP2	rs2229015	0.351438	0.2244	0.2380	1	0	0	exonic	exonic	exonic	PMP2	PMP2	ENSG00000147588	synonymous SNV	synonymous SNV	unknown	PMP2:NM_002677:exon2:c.A186G:p.E62E,	PMP2:uc003ycb.1:exon2:c.A186G:p.E62E,	UNKNOWN	Het;T>C	559;25|25	Hom;T>C	1493;0|57
N	N	-	8	82370696	82370696	C	T	snp	ncRNA_intronic	 	 	 	 	AC018616.1																		rs28485205	0.300519	0.1811	0.1768	1	0	0	intronic	intronic	ncRNA_intronic	FABP9	FABP9	ENSG00000253859	Na	Na	Na	Na	Na	Na	Het;C>T	657;15|31	Hom;C>T	1348;0|49
N	N	-	8	82392879	82392879	C	T	snp	ncRNA_intronic	 	 	 	 	AC018616.1																		rs140243546	0.00119808	0.0073	0.0059	1	0	0	intronic	intronic	ncRNA_intronic	FABP4	FABP4	ENSG00000253859	Na	Na	Na	Na	Na	Na	Het;C>T	154;19|10	Hom;C>T	811;0|30
N	N	-	8	82572649	82572649	A	G	snp	intronic	 	 	 	 	IMPA1	Impa1	ENSG00000133731	inositol monophosphatase 1	chr8:82570196-82598928	This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]	MENTAL RETARDATION AUTOSOMAL RECESSIVE 59	Most mice homozygous for a knock-out allele die between E9.5 and E10.5 with surviving mice exhibiting hyperactivity, increased rearing, and increased susceptibility to pilocarpine-induced seizures.	Synthesis of IP2, IP, and Ins in the cytosol	GO:0006020;inositol metabolic process;IBA|GO:0006021;inositol biosynthetic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IMP|GO:0006796;phosphate-containing compound metabolic process;IMP|GO:0007165;signal transduction;IMP|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0046855;inositol phosphate dephosphorylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000287;magnesium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008934;inositol monophosphate 1-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IDA|GO:0031403;lithium ion binding;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0052832;inositol monophosphate 3-phosphatase activity;TAS|GO:0052833;inositol monophosphate 4-phosphatase activity;TAS|GO:0052834;inositol monophosphate phosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IMPA1	https://www.uniprot.org/uniprot/P29218	https://hpo.jax.org/app/browse/search?q=IMPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602064	http://www.informatics.jax.org/searchtool/Search.do?query=IMPA1&submit=Quick%0D%6864ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPA1	rs2303581	0.0615016	0	0	1	0	0	intronic	intronic	intronic	IMPA1	IMPA1	ENSG00000133731	Na	Na	Na	Na	Na	Na	Het;A>G	186;5|7	Hom;A>G	178;0|6
N	N	-	8	82597937	82597937	T	C	snp	intronic	 	 	 	 	IMPA1	Impa1	ENSG00000133731	inositol monophosphatase 1	chr8:82570196-82598928	This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]	MENTAL RETARDATION AUTOSOMAL RECESSIVE 59	Most mice homozygous for a knock-out allele die between E9.5 and E10.5 with surviving mice exhibiting hyperactivity, increased rearing, and increased susceptibility to pilocarpine-induced seizures.	Synthesis of IP2, IP, and Ins in the cytosol	GO:0006020;inositol metabolic process;IBA|GO:0006021;inositol biosynthetic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IMP|GO:0006796;phosphate-containing compound metabolic process;IMP|GO:0007165;signal transduction;IMP|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0046855;inositol phosphate dephosphorylation;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000287;magnesium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008934;inositol monophosphate 1-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IDA|GO:0031403;lithium ion binding;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0052832;inositol monophosphate 3-phosphatase activity;TAS|GO:0052833;inositol monophosphate 4-phosphatase activity;TAS|GO:0052834;inositol monophosphate phosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IMPA1	https://www.uniprot.org/uniprot/P29218	https://hpo.jax.org/app/browse/search?q=IMPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602064	http://www.informatics.jax.org/searchtool/Search.do?query=IMPA1&submit=Quick%0D%6864ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPA1	rs117579422	0.0213658	0	0	1	0	0	intronic	intronic	intronic	IMPA1	IMPA1	ENSG00000133731	Na	Na	Na	Na	Na	Na	Het;T>C	144;22|9	Hom;T>C	811;0|27
N	N	-	8	83601915	83601915	G	C	snp	intergenic	 	 	 	 	AC060765.1																		rs59055625	0.0764776	0	0	1	0	0	intergenic	intergenic	intergenic	SNX16(dist=847394),LINC01419(dist=714078)	SNX16(dist=847394),BC038578(dist=714078)	ENSG00000253503(dist=12527),ENSG00000253836(dist=173099)	Na	Na	Na	Na	Na	Na	Het;G>C	113;3|6	Hom;G>C	113;0|5
N	N	-	8	83601965	83601965	T	C	snp	intergenic	 	 	 	 	AC060765.1																		rs11996822	0.165136	0	0	1	0	0	intergenic	intergenic	intergenic	SNX16(dist=847444),LINC01419(dist=714028)	SNX16(dist=847444),BC038578(dist=714028)	ENSG00000253503(dist=12577),ENSG00000253836(dist=173049)	Na	Na	Na	Na	Na	Na	Het;T>C	129;4|7	Hom;T>C	71;0|4
N	N	-	8	84223916	84223917	CT	C	indel	intergenic	 	 	 	 	AC090132.1																		rs5892859	0.467851	0	0	1	0	0	intergenic	intergenic	intergenic	SNX16(dist=1469395),LINC01419(dist=92076)	SNX16(dist=1469395),BC038578(dist=92076)	ENSG00000253423(dist=109250),ENSG00000253898(dist=92076)	Na	Na	Na	Na	Na	Na	Het;-T	132;2|9	Hom;-T	157;0|9
N	N	-	8	84320282	84320282	G	A	snp	ncRNA_exonic	 	 	 	 	LINC01419																		rs1481483	0.278355	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01419	BC038578	ENSG00000253898	Na	Na	Na	Na	Na	Na	Het;G>A	811;53|42	Hom;G>A	2687;1|99
N	N	-	8	84416688	84416688	C	T	snp	intergenic	 	 	 	 	LINC01419																		rs4374994	0.270168	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01419(dist=95556),RALYL(dist=678765)	BC038578(dist=95556),RALYL(dist=678765)	ENSG00000253898(dist=95553),ENSG00000254202(dist=408260)	Na	Na	Na	Na	Na	Na	Het;C>T	101;5|4	Hom;C>T	278;0|8
N	N	-	8	84416709	84416709	G	A	snp	intergenic	 	 	 	 	LINC01419																		rs1597015	0.270168	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01419(dist=95577),RALYL(dist=678744)	BC038578(dist=95577),RALYL(dist=678744)	ENSG00000253898(dist=95574),ENSG00000254202(dist=408239)	Na	Na	Na	Na	Na	Na	Het;G>A	212;5|8	Hom;G>A	361;0|11
N	N	-	8	84416934	84416934	C	T	snp	intergenic	 	 	 	 	LINC01419																		rs10090844	0.270367	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01419(dist=95802),RALYL(dist=678519)	BC038578(dist=95802),RALYL(dist=678519)	ENSG00000253898(dist=95799),ENSG00000254202(dist=408014)	Na	Na	Na	Na	Na	Na	Het;C>T	935;34|43	Hom;C>T	708;1|26
N	N	-	8	85147008	85147008	T	A	snp	intronic	 	 	 	 	RALYL	Ralyl	ENSG00000184672	RALY RNA binding protein like	chr8:85095022-85834079		Cholesterol, LDL; Neuroblastoma; Stroke; Echocardiography; Platelet Count; Coronary Disease; Aorta; Blood Pressure Determination; Heart Rate	 			GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RALYL			https://www.ncbi.nlm.nih.gov/omim/?term=614648	http://www.informatics.jax.org/searchtool/Search.do?query=RALYL&submit=Quick%0D%15253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RALYL	rs6473535	0	0	0	1	0	0	intronic	intronic	intronic	RALYL	RALYL	ENSG00000184672	Na	Na	Na	Na	Na	Na	Het;T>A	263;8|13	Hom;T>A	411;0|16
N	N	-	8	86180944	86180944	A	G	snp	intronic	 	 	 	 	CA13	Car13	ENSG00000185015	carbonic anhydrase 13	chr8:86132816-86196302	Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]		 	Reversible hydration of carbon dioxide	GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS	GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CA13			https://www.ncbi.nlm.nih.gov/omim/?term=611436	http://www.informatics.jax.org/searchtool/Search.do?query=CA13&submit=Quick%0D%15322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CA13	rs2006767	0.557308	0	0	1	0	0	intronic	intronic	intronic	CA13	CA13	ENSG00000185015	Na	Na	Na	Na	Na	Na	Het;A>G	249;1|8	Hom;A>G	597;0|18
N	N	-	8	86389319	86389319	G	C	snp	intronic	 	 	 	 	CA2	Car2	ENSG00000104267	carbonic anhydrase 2	chr8:86376081-86393722	The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]	Osteoporosis	Homozygous mutant mice are growth retarded,  display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency.	Reversible hydration of carbon dioxide	GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0015670;carbon dioxide transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0032849;positive regulation of cellular pH reduction;IEA|GO:0038166;angiotensin-activated signaling pathway;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043627;response to estrogen;IEA|GO:0044070;regulation of anion transport;IDA|GO:0045672;positive regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0046903;secretion;IEA|GO:0048545;response to steroid hormone;IEA|GO:0051453;regulation of intracellular pH;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:2001150;positive regulation of dipeptide transmembrane transport;IEA|GO:2001225;regulation of chloride transport;IEA	GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030424;axon;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA	GO:0004064;arylesterase activity;IMP|GO:0004089;carbonate dehydratase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CA2	https://www.uniprot.org/uniprot/P00918	https://hpo.jax.org/app/browse/search?q=CA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611492	http://www.informatics.jax.org/searchtool/Search.do?query=CA2&submit=Quick%0D%3096ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CA2	rs72682972	0.00279553	0.0013	0.0033	1	0	0	intronic	intronic	intronic	CA2	CA2	ENSG00000104267	Na	Na	Na	Na	Na	Na	Het;G>C	454;26|23	Hom;G>C	1170;0|38
N	N	-	8	86932414	86932414	A	G	snp	ncRNA_intronic	 	 	 	 	AC100801.1																		rs6999182	0.162939	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	REXO1L2P(dist=92243),PSKH2(dist=128277)	NONE(dist=NONE),PSKH2(dist=128277)	ENSG00000253154	Na	Na	Na	Na	Na	Na	Het;A>G	42;2|3	Hom;A>G	170;0|8
N	N	-	8	86965950	86965950	C	G	snp	intergenic	 	 	 	 	AC100801.1																		rs7464656	0.071885	0	0	1	0	0	intergenic	intergenic	intergenic	REXO1L2P(dist=125779),PSKH2(dist=94741)	NONE(dist=NONE),PSKH2(dist=94741)	ENSG00000253154(dist=2638),ENSG00000147614(dist=33602)	Na	Na	Na	Na	Na	Na	Het;C>G	318;9|13	Hom;C>G	812;0|26
N	N	-	8	87060672	87060672	A	G	snp	UTR3	*19T>C	 	 	 	PSKH2		ENSG00000147613	protein serine kinase H2	chr8:87060602-87100850		Chronic renal failure|Kidney Failure, Chronic			GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSKH2	https://www.uniprot.org/uniprot/Q96QS6			http://www.informatics.jax.org/searchtool/Search.do?query=PSKH2&submit=Quick%0D%9029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSKH2	rs3802225	0.401158	0.3811	0.3845	1	0	0	downstream	downstream	UTR3	PSKH2	PSKH2	ENSG00000147613(ENST00000276616:c.*19T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	235;18|11	Hom;A>G	1151;0|35
N	N	-	8	87076520	87076520	C	A	snp	nonsynonymous SNV	G526T	A176S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PSKH2		ENSG00000147613	protein serine kinase H2	chr8:87060602-87100850		Chronic renal failure|Kidney Failure, Chronic			GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA	GO:0005622;intracellular;IBA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSKH2	https://www.uniprot.org/uniprot/Q96QS6			http://www.informatics.jax.org/searchtool/Search.do?query=PSKH2&submit=Quick%0D%9029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSKH2	rs6998760	0.295727	0.2785	0.3447	0.17	2	12	exonic	exonic	exonic	PSKH2	PSKH2	ENSG00000147613	nonsynonymous SNV	nonsynonymous SNV	unknown	PSKH2:NM_033126:exon2:c.G526T:p.A176S,	PSKH2:uc011lfy.2:exon2:c.G526T:p.A176S,	UNKNOWN	Het;C>A	1456;103|71	Hom;C>A	4993;2|180
N	N	-	8	87443026	87443038	CCATATATATATA	C	indel	intronic	 	 	 	 	WWP1	Wwp1	ENSG00000123124	WW domain containing E3 ubiquitin protein ligase 1	chr8:87354967-87490649	WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit increased osteoblast differentiation of bone marrow-derived stromal cells.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007165;signal transduction;NAS|GO:0007417;central nervous system development;NAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046718;viral entry into host cell;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WWP1	https://www.uniprot.org/uniprot/Q9H0M0		https://www.ncbi.nlm.nih.gov/omim/?term=602307	http://www.informatics.jax.org/searchtool/Search.do?query=WWP1&submit=Quick%0D%5487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWP1	rs76615540	0	0	0.4712	1	0	0	intronic	intronic	intronic	WWP1	WWP1	ENSG00000123124	Na	Na	Na	Na	Na	Na	Het;-CATATATATATA	592;6|17	Hom;-CATATATATATA	2050;0|56
N	N	-	8	87443040	87443040	A	C	snp	intronic	 	 	 	 	WWP1	Wwp1	ENSG00000123124	WW domain containing E3 ubiquitin protein ligase 1	chr8:87354967-87490649	WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit increased osteoblast differentiation of bone marrow-derived stromal cells.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007165;signal transduction;NAS|GO:0007417;central nervous system development;NAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046718;viral entry into host cell;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WWP1	https://www.uniprot.org/uniprot/Q9H0M0		https://www.ncbi.nlm.nih.gov/omim/?term=602307	http://www.informatics.jax.org/searchtool/Search.do?query=WWP1&submit=Quick%0D%5487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWP1	rs62510796	0	0	0	1	0	0	intronic	intronic	intronic	WWP1	WWP1	ENSG00000123124	Na	Na	Na	Na	Na	Na	Het;A>C	291;4|8	Hom;A>C	2176;0|52
N	N	-	8	87443058	87443058	A	G	snp	intronic	 	 	 	 	WWP1	Wwp1	ENSG00000123124	WW domain containing E3 ubiquitin protein ligase 1	chr8:87354967-87490649	WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele exhibit increased osteoblast differentiation of bone marrow-derived stromal cells.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007165;signal transduction;NAS|GO:0007417;central nervous system development;NAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046718;viral entry into host cell;TAS	GO:0000151;ubiquitin ligase complex;NAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WWP1	https://www.uniprot.org/uniprot/Q9H0M0		https://www.ncbi.nlm.nih.gov/omim/?term=602307	http://www.informatics.jax.org/searchtool/Search.do?query=WWP1&submit=Quick%0D%5487ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WWP1	rs9657012	0.671526	0	0	1	0	0	intronic	intronic	intronic	WWP1	WWP1	ENSG00000123124	Na	Na	Na	Na	Na	Na	Het;A>G	408;2|11	Hom;A>G	1777;0|41
N	N	-	8	88102146	88102146	C	T	snp	intronic	 	 	 	 	CNBD1	Cnbd1	ENSG00000176571	cyclic nucleotide binding domain containing 1	chr8:87878670-88627447		Tobacco Use Disorder; Hypertrophy, Left Ventricular; Diabetes Mellitus, Type 2; Alcoholism; Body Composition	 					http://www.genecards.org/index.php?path=/Search/keyword/CNBD1				http://www.informatics.jax.org/searchtool/Search.do?query=CNBD1&submit=Quick%0D%13881ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNBD1	rs529544502	0.00239617	0	0	1	0	0	intronic	intronic	intronic	CNBD1	CNBD1	ENSG00000176571	Na	Na	Na	Na	Na	Na	Het;C>T	118;14|7	Hom;C>T	622;0|23
N	N	-	8	88801153	88801153	C	T	snp	ncRNA_exonic	 	 	 	 	SOX5P1																		rs2240458	0.0760783	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CNBD1(dist=406198),DCAF4L2(dist=81818)	CNBD1(dist=406198),DCAF4L2(dist=81818)	ENSG00000254376	Na	Na	Na	Na	Na	Na	Het;C>T	71;7|5	Hom;C>T	312;0|12
N	N	-	8	88986152	88986152	A	AT	indel	upstream	 	 	 	 	AC037450.1																		rs143051093	0.113019	0	0	1	0	0	intergenic	intergenic	upstream	DCAF4L2(dist=99856),MMP16(dist=63308)	DCAF4L2(dist=99856),DKFZp761D112(dist=58085)	ENSG00000253171	Na	Na	Na	Na	Na	Na	Het;+T	351;16|17	Hom;+T	505;1|21
N	N	-	8	89439453	89439453	G	A	snp	ncRNA_intronic	 	 	 	 	AC090568.2																		rs821116	0.387979	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MMP16(dist=99736),LOC101929709(dist=1290174)	MMP16(dist=99736),RIPK2(dist=1330522)	ENSG00000253553	Na	Na	Na	Na	Na	Na	Het;G>A	168;6|8	Hom;G>A	238;0|10
N	N	-	8	89439469	89439469	C	A	snp	ncRNA_intronic	 	 	 	 	AC090568.2																		rs821115	0.264177	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MMP16(dist=99752),LOC101929709(dist=1290158)	MMP16(dist=99752),RIPK2(dist=1330506)	ENSG00000253553	Na	Na	Na	Na	Na	Na	Het;C>A	128;6|8	Hom;C>A	388;0|16
N	N	-	8	89487685	89487685	T	TA	indel	ncRNA_intronic	 	 	 	 	AC090568.2																		rs369730895	0.0359425	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	MMP16(dist=147968),LOC101929709(dist=1241942)	MMP16(dist=147968),RIPK2(dist=1282290)	ENSG00000253553	Na	Na	Na	Na	Na	Na	Het;+A	184;11|10	Hom;+A	360;0|14
N	N	-	8	90339342	90339342	G	C	snp	intergenic	 	 	 	 	RPSAP74																		rs12682126	0.427316	0	0	1	0	0	intergenic	intergenic	intergenic	MMP16(dist=999625),LOC101929709(dist=390285)	MMP16(dist=999625),RIPK2(dist=430633)	ENSG00000253621(dist=83320),ENSG00000248231(dist=85508)	Na	Na	Na	Na	Na	Na	Het;G>C	176;9|6	Hom;G>C	508;1|14
N	N	-	8	90339615	90339615	T	C	snp	intergenic	 	 	 	 	RPSAP74																		rs11784437	0.43131	0	0	1	0	0	intergenic	intergenic	intergenic	MMP16(dist=999898),LOC101929709(dist=390012)	MMP16(dist=999898),RIPK2(dist=430360)	ENSG00000253621(dist=83593),ENSG00000248231(dist=85235)	Na	Na	Na	Na	Na	Na	Het;T>C	478;24|19	Hom;T>C	1081;0|35
N	N	-	8	90339630	90339630	A	C	snp	intergenic	 	 	 	 	RPSAP74																		rs11783731	0.431709	0	0	1	0	0	intergenic	intergenic	intergenic	MMP16(dist=999913),LOC101929709(dist=389997)	MMP16(dist=999913),RIPK2(dist=430345)	ENSG00000253621(dist=83608),ENSG00000248231(dist=85220)	Na	Na	Na	Na	Na	Na	Het;A>C	545;17|17	Hom;A>C	944;0|25
N	N	-	8	90539531	90539531	G	A	snp	intergenic	 	 	 	 	KRT8P4																		rs59664734	0.176717	0	0	1	0	0	intergenic	intergenic	intergenic	MMP16(dist=1199814),LOC101929709(dist=190096)	MMP16(dist=1199814),RIPK2(dist=230444)	ENSG00000248231(dist=112231),ENSG00000251136(dist=82107)	Na	Na	Na	Na	Na	Na	Het;G>A	383;16|20	Hom;G>A	1795;0|71
N	N	-	8	90737909	90737915	GAGAACA	G	indel	ncRNA_intronic	 	 	 	 	LOC101929709																		rs34790922	0.427716	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101929709	MMP16(dist=1398192),RIPK2(dist=32060)	ENSG00000251136	Na	Na	Na	Na	Na	Na	Het;-AGAACA	821;36|23	Hom;-AGAACA	2900;0|67
N	N	-	8	92364204	92364204	A	G	snp	intronic	 	 	 	 	SLC26A7	Slc26a7	ENSG00000147606	solute carrier family 26 member 7	chr8:92221722-92410378	This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]		Mice deficient for this marker have a reduce arterial pH and reduced serum bicarbonate.  Urine is more concentrated and has an elevated pH.	Multifunctional anion exchangers	GO:0001696;gastric acid secretion;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006820;anion transport;IEA|GO:0006821;chloride transport;IDA|GO:0008272;sulfate transport;IEA|GO:0015701;bicarbonate transport;ISS|GO:0019532;oxalate transport;IDA|GO:0042391;regulation of membrane potential;IBA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0055038;recycling endosome membrane;IEA	GO:0005253;anion channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015106;bicarbonate transmembrane transporter activity;ISS|GO:0015116;sulfate transmembrane transporter activity;IEA|GO:0015301;anion:anion antiporter activity;IEA|GO:0019531;oxalate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC26A7	https://www.uniprot.org/uniprot/Q8TE54		https://www.ncbi.nlm.nih.gov/omim/?term=608479	http://www.informatics.jax.org/searchtool/Search.do?query=SLC26A7&submit=Quick%0D%9028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC26A7	rs17666398	0.0229633	0	0	1	0	0	intronic	intronic	intronic	SLC26A7	SLC26A7	ENSG00000147606	Na	Na	Na	Na	Na	Na	Het;A>G	182;14|10	Hom;A>G	387;0|11
N	N	-	8	92378782	92378782	C	T	snp	intronic	 	 	 	 	SLC26A7	Slc26a7	ENSG00000147606	solute carrier family 26 member 7	chr8:92221722-92410378	This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]		Mice deficient for this marker have a reduce arterial pH and reduced serum bicarbonate.  Urine is more concentrated and has an elevated pH.	Multifunctional anion exchangers	GO:0001696;gastric acid secretion;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006820;anion transport;IEA|GO:0006821;chloride transport;IDA|GO:0008272;sulfate transport;IEA|GO:0015701;bicarbonate transport;ISS|GO:0019532;oxalate transport;IDA|GO:0042391;regulation of membrane potential;IBA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0055038;recycling endosome membrane;IEA	GO:0005253;anion channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015106;bicarbonate transmembrane transporter activity;ISS|GO:0015116;sulfate transmembrane transporter activity;IEA|GO:0015301;anion:anion antiporter activity;IEA|GO:0019531;oxalate transmembrane transporter activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC26A7	https://www.uniprot.org/uniprot/Q8TE54		https://www.ncbi.nlm.nih.gov/omim/?term=608479	http://www.informatics.jax.org/searchtool/Search.do?query=SLC26A7&submit=Quick%0D%9028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC26A7	rs10099092	0.0900559	0.1188	0.0843	1	0	0	intronic	intronic	intronic	SLC26A7	SLC26A7	ENSG00000147606	Na	Na	Na	Na	Na	Na	Het;C>T	488;33|22	Hom;C>T	1858;0|64
N	N	-	8	93577910	93577910	T	G	snp	ncRNA_intronic	 	 	 	 	LOC102724710																		rs2291016	0.453275	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC102724710	5S_rRNA(dist=398135),FLJ46284(dist=147280)	ENSG00000253634	Na	Na	Na	Na	Na	Na	Het;T>G	369;11|13	Hom;T>G	521;0|15
N	N	-	8	94146656	94146656	G	T	snp	nonsynonymous SNV	C173A	A58E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	C8orf87																		rs13267247	0.231629	0	0.2670	1	0	0	exonic	exonic	exonic	C8orf87	C8orf87	ENSG00000254318	nonsynonymous SNV	nonsynonymous SNV	unknown	C8orf87:NM_001242668:exon3:c.C173A:p.A58E,	C8orf87:uc003yft.1:exon3:c.C173A:p.A58E,	UNKNOWN	Het;G>T	990;63|50	Hom;G>T	2512;0|91
N	N	-	8	94278630	94278634	AAAAC	A	indel	ncRNA_intronic	 	 	 	 	LINC00535																		rs148658541	0.32528	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	C8orf87(dist=99551),LINC00535(dist=80061)	C8orf87(dist=99551),LINC00535(dist=80061)	ENSG00000246662,ENSG00000254089	Na	Na	Na	Na	Na	Na	Het;-AAAC	94;9|4	Hom;-AAAC	233;0|6
N	N	-	8	94671548	94671548	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00535																		rs7818521	0.269768	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00535	LINC00535	ENSG00000246662	Na	Na	Na	Na	Na	Na	Het;T>C	67;5|3	Hom;T>C	335;0|10
N	N	-	8	94671580	94671580	A	G	snp	ncRNA_intronic	 	 	 	 	LINC00535																		rs7814823	0.295527	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC00535	LINC00535	ENSG00000246662	Na	Na	Na	Na	Na	Na	Het;A>G	252;9|9	Hom;A>G	790;0|23
N	N	-	8	94821913	94821913	A	G	snp	intronic	 	 	 	 	TMEM67	Tmem67	ENSG00000164953	transmembrane protein 67	chr8:94767072-94831462	The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]	Meckel syndrome	Mice homozygous for a targeted allele exhibit neonatal/postanal lethality, kidney cysts, and Meckel-Gruber or Joubert syndrome-like phenotypes depending on the filial generation of the backcross to C57BL/6J. Mice homozygous for an ENU-induced allele exhibit cardiovascular defects and cystic kidney.	Anchoring of the basal body to the plasma membrane	GO:0010826;negative regulation of centrosome duplication;IEA|GO:0030030;cell projection organization;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0060271;cilium assembly;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005813;centrosome;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IDA|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS	GO:0005515;protein binding;IPI|GO:0031005;filamin binding;IPI|GO:0051082;unfolded protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMEM67		https://hpo.jax.org/app/browse/search?q=TMEM67&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609884	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM67&submit=Quick%0D%11435ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM67	rs184087664	0.00479233	0	0	1	0	0	intronic	intronic	intronic	TMEM67	TMEM67	ENSG00000164953	Na	Na	Na	Na	Na	Na	Het;A>G	131;8|5	Hom;A>G	249;0|7
N	N	-	8	95088418	95088418	G	A	snp	intergenic	 	 	 	 	ENSG00000263855																		rs79250342	0.00139776	0	0	1	0	0	intergenic	intergenic	intergenic	PDP1(dist=150122),CDH17(dist=50976)	PDP1(dist=150122),CDH17(dist=50976)	ENSG00000263855(dist=102267),ENSG00000253585(dist=21574)	Na	Na	Na	Na	Na	Na	Het;G>A	115;6|5	Hom;G>A	110;0|4
N	N	-	8	95143172	95143172	T	G	snp	nonsynonymous SNV	A2216C	E739A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	CDH17	Cdh17	ENSG00000079112	cadherin 17	chr8:95139399-95229531	This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]	depression	Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen.	Adherens junctions interactions	GO:0002314;germinal center B cell differentiation;IEA|GO:0002315;marginal zone B cell differentiation;IEA|GO:0006810;transport;NAS|GO:0006857;oligopeptide transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0030183;B cell differentiation;IEA|GO:0033626;positive regulation of integrin activation by cell surface receptor linked signal transduction;IMP|GO:0034332;adherens junction organization;TAS|GO:0035672;oligopeptide transmembrane transport;ISS|GO:0048536;spleen development;IEA	GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA	GO:0005178;integrin binding;IPI|GO:0005215;transporter activity;TAS|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH17	https://www.uniprot.org/uniprot/Q12864		https://www.ncbi.nlm.nih.gov/omim/?term=603017	http://www.informatics.jax.org/searchtool/Search.do?query=CDH17&submit=Quick%0D%1685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH17	rs1051624	0.442692	0.4736	0.5121	0.08	1	13	exonic	exonic	exonic	CDH17	CDH17	ENSG00000079112	nonsynonymous SNV	nonsynonymous SNV	unknown	CDH17:NM_004063:exon16:c.A2216C:p.E739A,CDH17:NM_001144663:exon16:c.A2216C:p.E739A,	CDH17:uc011lgp.1:exon16:c.A2216C:p.E739A,CDH17:uc003ygh.2:exon16:c.A2216C:p.E739A,CDH17:uc011lgo.1:exon12:c.A1574C:p.E525A,	UNKNOWN	Het;T>G	2147;58|60	Hom;T>G	3308;0|79
N	N	-	8	95143186	95143186	C	G	snp	nonsynonymous SNV	G2202C	E734D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CDH17	Cdh17	ENSG00000079112	cadherin 17	chr8:95139399-95229531	This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]	depression	Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen.	Adherens junctions interactions	GO:0002314;germinal center B cell differentiation;IEA|GO:0002315;marginal zone B cell differentiation;IEA|GO:0006810;transport;NAS|GO:0006857;oligopeptide transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0030183;B cell differentiation;IEA|GO:0033626;positive regulation of integrin activation by cell surface receptor linked signal transduction;IMP|GO:0034332;adherens junction organization;TAS|GO:0035672;oligopeptide transmembrane transport;ISS|GO:0048536;spleen development;IEA	GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA	GO:0005178;integrin binding;IPI|GO:0005215;transporter activity;TAS|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH17	https://www.uniprot.org/uniprot/Q12864		https://www.ncbi.nlm.nih.gov/omim/?term=603017	http://www.informatics.jax.org/searchtool/Search.do?query=CDH17&submit=Quick%0D%1685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH17	rs1051623	0.783946	0.8336	0.8040	0.08	1	13	exonic	exonic	exonic	CDH17	CDH17	ENSG00000079112	nonsynonymous SNV	nonsynonymous SNV	unknown	CDH17:NM_004063:exon16:c.G2202C:p.E734D,CDH17:NM_001144663:exon16:c.G2202C:p.E734D,	CDH17:uc011lgp.1:exon16:c.G2202C:p.E734D,CDH17:uc003ygh.2:exon16:c.G2202C:p.E734D,CDH17:uc011lgo.1:exon12:c.G1560C:p.E520D,	UNKNOWN	Het;C>G	2041;51|53	Hom;C>G	3027;0|68
N	N	-	8	95158146	95158146	G	C	snp	intronic	 	 	 	 	CDH17	Cdh17	ENSG00000079112	cadherin 17	chr8:95139399-95229531	This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]	depression	Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen.	Adherens junctions interactions	GO:0002314;germinal center B cell differentiation;IEA|GO:0002315;marginal zone B cell differentiation;IEA|GO:0006810;transport;NAS|GO:0006857;oligopeptide transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0030183;B cell differentiation;IEA|GO:0033626;positive regulation of integrin activation by cell surface receptor linked signal transduction;IMP|GO:0034332;adherens junction organization;TAS|GO:0035672;oligopeptide transmembrane transport;ISS|GO:0048536;spleen development;IEA	GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA	GO:0005178;integrin binding;IPI|GO:0005215;transporter activity;TAS|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH17	https://www.uniprot.org/uniprot/Q12864		https://www.ncbi.nlm.nih.gov/omim/?term=603017	http://www.informatics.jax.org/searchtool/Search.do?query=CDH17&submit=Quick%0D%1685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH17	rs13263145	0.114217	0.2487	0.2464	1	0	0	intronic	intronic	intronic	CDH17	CDH17	ENSG00000079112	Na	Na	Na	Na	Na	Na	Het;G>C	1104;27|42	Hom;G>C	1848;0|60
N	N	-	8	95158382	95158382	C	T	snp	synonymous SNV	G1941A	L647L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CDH17	Cdh17	ENSG00000079112	cadherin 17	chr8:95139399-95229531	This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]	depression	Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen.	Adherens junctions interactions	GO:0002314;germinal center B cell differentiation;IEA|GO:0002315;marginal zone B cell differentiation;IEA|GO:0006810;transport;NAS|GO:0006857;oligopeptide transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0030183;B cell differentiation;IEA|GO:0033626;positive regulation of integrin activation by cell surface receptor linked signal transduction;IMP|GO:0034332;adherens junction organization;TAS|GO:0035672;oligopeptide transmembrane transport;ISS|GO:0048536;spleen development;IEA	GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA	GO:0005178;integrin binding;IPI|GO:0005215;transporter activity;TAS|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDH17	https://www.uniprot.org/uniprot/Q12864		https://www.ncbi.nlm.nih.gov/omim/?term=603017	http://www.informatics.jax.org/searchtool/Search.do?query=CDH17&submit=Quick%0D%1685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH17	rs1131830	0.43151	0.4554	0.5033	1	0	0	exonic	exonic	exonic	CDH17	CDH17	ENSG00000079112	synonymous SNV	synonymous SNV	unknown	CDH17:NM_004063:exon15:c.G1941A:p.L647L,CDH17:NM_001144663:exon15:c.G1941A:p.L647L,	CDH17:uc011lgp.1:exon15:c.G1941A:p.L647L,CDH17:uc003ygh.2:exon15:c.G1941A:p.L647L,CDH17:uc011lgo.1:exon11:c.G1299A:p.L433L,	UNKNOWN	Het;C>T	1608;104|80	Hom;C>T	3597;0|138
N	N	-	8	95508499	95508499	C	T	snp	intronic	 	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs3099408	0.172524	0	0	1	0	0	intronic	intronic	intronic	KIAA1429	KIAA1429	ENSG00000164944	Na	Na	Na	Na	Na	Na	Het;C>T	147;6|6	Hom;C>T	216;0|7
N	N	-	8	95523335	95523335	T	G	snp	UTR3	*24A>C	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs3102858	0.172524	0.1039	0.1683	1	0	0	UTR3	UTR3	UTR3	KIAA1429(NM_183009:c.*24A>C)	KIAA1429(uc003ygp.3:c.*24A>C)	ENSG00000164944(ENST00000421249:c.*24A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	382;16|15	Hom;T>G	843;0|30
N	N	-	8	95524126	95524130	TTAAA	T	indel	intronic	 	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs35216660	0.317093	0	0	1	0	0	intronic	intronic	intronic	KIAA1429	KIAA1429	ENSG00000164944	Na	Na	Na	Na	Na	Na	Het;-TAAA	131;14|5	Hom;-TAAA	728;0|17
N	N	-	8	95527317	95527317	C	T	snp	intronic	 	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs3098714	0.33726	0	0	1	0	0	intronic	intronic	intronic	KIAA1429	KIAA1429	ENSG00000164944	Na	Na	Na	Na	Na	Na	Het;C>T	87;2|4	Hom;C>T	199;0|6
N	N	-	8	95531419	95531419	T	C	snp	synonymous SNV	A2307G	Q769Q	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs1866844	0.317492	0.2690	0.2788	1	0	0	exonic	exonic	exonic	KIAA1429	KIAA1429	ENSG00000164944	synonymous SNV	synonymous SNV	unknown	KIAA1429:NM_015496:exon9:c.A2307G:p.Q769Q,KIAA1429:NM_183009:exon9:c.A2307G:p.Q769Q,	KIAA1429:uc003ygo.2:exon9:c.A2307G:p.Q769Q,KIAA1429:uc003ygp.3:exon9:c.A2307G:p.Q769Q,	UNKNOWN	Het;T>C	1577;59|77	Hom;T>C	4143;0|147
N	N	-	8	95538468	95538468	T	C	snp	synonymous SNV	A2004G	P668P	hydrophobic,neutral	hydrophobic,neutral	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs2890827	0.370607	0.3458	0.3311	1	0	0	exonic	exonic	exonic	KIAA1429	KIAA1429	ENSG00000164944	synonymous SNV	synonymous SNV	unknown	KIAA1429:NM_015496:exon8:c.A2004G:p.P668P,KIAA1429:NM_183009:exon8:c.A2004G:p.P668P,	KIAA1429:uc003ygo.2:exon8:c.A2004G:p.P668P,KIAA1429:uc003ygp.3:exon8:c.A2004G:p.P668P,	UNKNOWN	Het;T>C	1057;42|51	Hom;T>C	2170;0|82
N	N	-	8	95547005	95547006	AT	A	indel	intronic	 	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs59429647	0	0	0	1	0	0	intronic	intronic	intronic	KIAA1429	KIAA1429	ENSG00000164944	Na	Na	Na	Na	Na	Na	Het;-T	138;7|8	Hom;-T	348;0|17
N	N	-	8	95547037	95547037	C	T	snp	intronic	 	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs3102863	0.173722	0.1226	0.1031	1	0	0	intronic	intronic	intronic	KIAA1429	KIAA1429	ENSG00000164944	Na	Na	Na	Na	Na	Na	Het;C>T	345;9|16	Hom;C>T	928;0|34
N	N	-	8	95549280	95549280	G	C	snp	intronic	 	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs3098723	0.173522	0.1226	0.1028	1	0	0	intronic	intronic	intronic	KIAA1429	KIAA1429	ENSG00000164944	Na	Na	Na	Na	Na	Na	Het;G>C	286;15|14	Hom;G>C	604;0|22
N	N	-	8	95565762	95565762	A	C	snp	upstream	 	 	 	 	KIAA1429	1110037F02Rik	ENSG00000164944	vir like m6A methyltransferase associated	chr8:95499921-95565757			 		GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0080009;mRNA methylation;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0036396;MIS complex;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1429			https://www.ncbi.nlm.nih.gov/omim/?term=616447	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1429&submit=Quick%0D%11431ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1429	rs3133659	0.341853	0	0	1	0	0	upstream	upstream	upstream	KIAA1429	KIAA1429	ENSG00000164944,ENSG00000253704	Na	Na	Na	Na	Na	Na	Het;A>C	71;1|4	Hom;A>C	99;0|4
N	N	-	8	95902819	95902821	ATT	A	indel	intronic	 	 	 	 	CCNE2	Ccne2	ENSG00000175305	cyclin E2	chr8:95891998-95908906	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]	ovarian cancer	Female mice homozygous for disruptions in this gene are phenotypically normal.  Male mice show reduced fertility but are otherwise normal.	p53-Dependent G1 DNA Damage Response	GO:0000075;cell cycle checkpoint;TAS|GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000723;telomere maintenance;IEA|GO:0006270;DNA replication initiation;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:1903827;regulation of cellular protein localization;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0097135;cyclin E2-CDK2 complex;IEA	GO:0005515;protein binding;IPI|GO:0016538;cyclin-dependent protein serine/threonine kinase regulator activity;IEA|GO:0019901;protein kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCNE2			https://www.ncbi.nlm.nih.gov/omim/?term=603775	http://www.informatics.jax.org/searchtool/Search.do?query=CCNE2&submit=Quick%0D%13675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNE2	rs33988905	0.854034	0	0.2022	1	0	0	intronic	intronic	intronic	CCNE2	CCNE2	ENSG00000175305	Na	Na	Na	Na	Na	Na	Het;-TT	562;8|27	Hom;-TT	605;1|21
N	N	-	8	96167096	96167100	GCTCT	G	indel	UTR3	*74_*78delinsG	 	 	 	PLEKHF2	Plekhf2	ENSG00000175895	pleckstrin homology and FYVE domain containing 2	chr8:96146032-96168912		Attention Deficit Disorder with Hyperactivity	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0030133;transport vesicle;IDA|GO:0031901;early endosome membrane;IEA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHF2			https://www.ncbi.nlm.nih.gov/omim/?term=615208	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHF2&submit=Quick%0D%13771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHF2	rs111998521	0.0644968	0	0	1	0	0	UTR3	UTR3	UTR3	PLEKHF2(NM_024613:c.*74_*78delinsG)	PLEKHF2(uc003yhn.2:c.*74_*78delinsG)	ENSG00000175895(ENST00000315367:c.*74_*78delinsG,ENST00000519516:c.*74_*78delinsG)	Na	Na	Na	Na	Na	Na	Het;-CTCT	470;13|13	Hom;-CTCT	1608;0|37
N	N	-	8	96280979	96280994	CGGGCGGGGCGGGGCG	C	indel	ncRNA_intronic	 	 	 	 	C8orf37-AS1																		Na	0	0	0	1	0	0	intronic	intronic	ncRNA_intronic	C8orf37	C8orf37	ENSG00000253773	Na	Na	Na	Na	Na	Na	Het;-GGGCGGGGCGGGGCG	327;3|9	Hom;-GGGCGGGGCGGGGCG	813;0|19
N	N	-	8	96281480	96281480	A	AGGGGACCTGGC	indel	ncRNA_intronic	 	 	 	 	C8orf37-AS1																		rs142455613	0.0648962	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	C8orf37-AS1	LOC100616530	ENSG00000253773	Na	Na	Na	Na	Na	Na	Het;+GGGGACCTGGC	112;6|4	Hom;+GGGGACCTGGC	217;0|6
N	N	-	8	96356624	96356624	A	C	snp	ncRNA_exonic	 	 	 	 	C8orf37-AS1																		rs7842046	0.495607	0	0	1	0	0	ncRNA_exonic	intronic	ncRNA_intronic	C8orf37-AS1	LOC100616530	ENSG00000253773	Na	Na	Na	Na	Na	Na	Het;A>C	1700;92|83	Hom;A>C	4659;0|167
N	N	-	8	96494947	96494947	A	T	snp	ncRNA_intronic	 	 	 	 	C8orf37-AS1																		rs12679236	0.594848	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	C8orf37-AS1	LOC100616530	ENSG00000253773	Na	Na	Na	Na	Na	Na	Het;A>T	124;16|7	Hom;A>T	582;0|21
N	N	-	8	96545015	96545015	T	G	snp	ncRNA_intronic	 	 	 	 	C8orf37-AS1																		rs3105004	0.504193	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	C8orf37-AS1	LOC100616530	ENSG00000253773	Na	Na	Na	Na	Na	Na	Het;T>G	239;7|12	Hom;T>G	300;0|12
N	N	-	8	96812747	96812747	A	G	snp	nonsynonymous SNV	A110G	N37S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LOC100616530																		rs3107035	0.210264	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	C8orf37-AS1	LOC100616530	ENSG00000253773	Na	nonsynonymous SNV	Na	Na	LOC100616530:uc022ayo.2:exon4:c.A110G:p.N37S,	Na	Het;A>G	507;41|24	Hom;A>G	2690;0|87
N	N	-	8	97172487	97172487	G	T	snp	intronic	 	 	 	 	GDF6	Gdf6	ENSG00000156466	growth differentiation factor 6	chr8:97154562-97173020	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]	microphthalmia | coloboma; Cleft Lip|Cleft Palate; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Anophthalmos|Coloboma|Eye Abnormalities|Microphthalmos	Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull.		GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0030509;BMP signaling pathway;IDA|GO:0032332;positive regulation of chondrocyte differentiation;IMP|GO:0032924;activin receptor signaling pathway;IDA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0045444;fat cell differentiation;ISS|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048468;cell development;IBA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060395;SMAD protein signal transduction;IMP|GO:1900745;positive regulation of p38MAPK cascade;ISS|GO:1990009;retinal cell apoptotic process;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0008083;growth factor activity;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GDF6	https://www.uniprot.org/uniprot/Q6KF10	https://hpo.jax.org/app/browse/search?q=GDF6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601147	http://www.informatics.jax.org/searchtool/Search.do?query=GDF6&submit=Quick%0D%9982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF6	rs62516290	0.0307508	0.0694	0.0623	1	0	0	intronic	intronic	intronic	GDF6	GDF6	ENSG00000156466	Na	Na	Na	Na	Na	Na	Het;G>T	960;36|44	Hom;G>T	2805;0|103
N	N	-	8	97332661	97332661	A	G	snp	intronic	 	 	 	 	PTDSS1	Ptdss1	ENSG00000156471	phosphatidylserine synthase 1	chr8:97273943-97349223	The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; Body Height	Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span.	Synthesis of PS	GO:0006629;lipid metabolic process;IEA|GO:0006659;phosphatidylserine biosynthetic process;TAS|GO:0008654;phospholipid biosynthetic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PTDSS1	https://www.uniprot.org/uniprot/P48651	https://hpo.jax.org/app/browse/search?q=PTDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612792	http://www.informatics.jax.org/searchtool/Search.do?query=PTDSS1&submit=Quick%0D%9985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTDSS1	rs3735987	0.363019	0	0	1	0	0	intronic	intronic	intronic	PTDSS1	PTDSS1	ENSG00000156471	Na	Na	Na	Na	Na	Na	Het;A>G	64;6|3	Hom;A>G	102;0|4
N	N	-	8	97342582	97342582	C	T	snp	intronic	 	 	 	 	PTDSS1	Ptdss1	ENSG00000156471	phosphatidylserine synthase 1	chr8:97273943-97349223	The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; Body Height	Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span.	Synthesis of PS	GO:0006629;lipid metabolic process;IEA|GO:0006659;phosphatidylserine biosynthetic process;TAS|GO:0008654;phospholipid biosynthetic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PTDSS1	https://www.uniprot.org/uniprot/P48651	https://hpo.jax.org/app/browse/search?q=PTDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612792	http://www.informatics.jax.org/searchtool/Search.do?query=PTDSS1&submit=Quick%0D%9985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTDSS1	rs7001397	0.363818	0	0	1	0	0	intronic	intronic	intronic	PTDSS1	PTDSS1	ENSG00000156471	Na	Na	Na	Na	Na	Na	Het;C>T	142;20|9	Hom;C>T	1211;0|45
N	N	-	8	97343326	97343332	ATCTTGT	A	indel	intronic	 	 	 	 	PTDSS1	Ptdss1	ENSG00000156471	phosphatidylserine synthase 1	chr8:97273943-97349223	The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; Body Height	Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span.	Synthesis of PS	GO:0006629;lipid metabolic process;IEA|GO:0006659;phosphatidylserine biosynthetic process;TAS|GO:0008654;phospholipid biosynthetic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PTDSS1	https://www.uniprot.org/uniprot/P48651	https://hpo.jax.org/app/browse/search?q=PTDSS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612792	http://www.informatics.jax.org/searchtool/Search.do?query=PTDSS1&submit=Quick%0D%9985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTDSS1	rs3830537	0.253994	0.3506	0.3511	1	0	0	intronic	intronic	intronic	PTDSS1	PTDSS1	ENSG00000156471	Na	Na	Na	Na	Na	Na	Het;-TCTTGT	1921;75|56	Hom;-TCTTGT	4907;1|113
N	N	-	8	97384315	97384315	A	T	snp	ncRNA_exonic	 	 	 	 	LOC102724804																		rs2319815	0.26857	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724804	PTDSS1(dist=37541),SDC2(dist=121567)	ENSG00000253105	Na	Na	Na	Na	Na	Na	Het;A>T	1624;81|74	Hom;A>T	4179;2|149
N	N	-	8	97384408	97384408	C	T	snp	ncRNA_exonic	 	 	 	 	LOC102724804																		rs2244423	0.477436	0	0.4976	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724804	PTDSS1(dist=37634),SDC2(dist=121474)	ENSG00000253105	Na	Na	Na	Na	Na	Na	Het;C>T	998;71|47	Hom;C>T	2893;0|106
N	N	-	8	97398842	97398842	T	A	snp	ncRNA_exonic	 	 	 	 	LOC102724804																		rs12541366	0.145767	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724804	PTDSS1(dist=52068),SDC2(dist=107040)	ENSG00000253105	Na	Na	Na	Na	Na	Na	Het;T>A	504;44|28	Hom;T>A	1999;0|78
N	N	-	8	97399572	97399572	C	T	snp	ncRNA_exonic	 	 	 	 	LOC102724804																		rs17709854	0.145567	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC102724804	PTDSS1(dist=52798),SDC2(dist=106310)	ENSG00000253105	Na	Na	Na	Na	Na	Na	Het;C>T	1254;68|63	Hom;C>T	2060;2|81
N	N	-	8	98289986	98289986	C	T	snp	synonymous SNV	G87A	P29P	hydrophobic,neutral	hydrophobic,neutral	TSPYL5	Tspyl5	ENSG00000180543	TSPY like 5	chr8:98285717-98290176		Body Height; Antipsychotic Agents; Prostatic Neoplasms	 		GO:0006334;nucleosome assembly;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0040008;regulation of growth;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0071480;cellular response to gamma radiation;IMP	GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPYL5			https://www.ncbi.nlm.nih.gov/omim/?term=614721	http://www.informatics.jax.org/searchtool/Search.do?query=TSPYL5&submit=Quick%0D%14496ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPYL5	rs28669903	0.583866	0.5910	0.6848	1	0	0	exonic	exonic	exonic	TSPYL5	TSPYL5	ENSG00000180543	synonymous SNV	synonymous SNV	unknown	TSPYL5:NM_033512:exon1:c.G87A:p.P29P,	TSPYL5:uc003yhy.3:exon1:c.G87A:p.P29P,	UNKNOWN	Het;C>T	1219;32|56	Hom;C>T	1749;0|68
N	N	-	8	98699190	98699191	AT	A	indel	intronic	 	 	 	 	MTDH	Mtdh	ENSG00000147649	metadherin	chr8:98656407-98740998		Migraine	Mice homozygous for a null allele are viable and fertile with decreased incidence of tumors by chemical induction.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IMP|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0070830;bicellular tight junction assembly;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IEA|GO:0031965;nuclear membrane;IEA|GO:0046581;intercellular canaliculus;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0003713;transcription coactivator activity;IMP|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0051059;NF-kappaB binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MTDH	https://www.uniprot.org/uniprot/Q86UE4		https://www.ncbi.nlm.nih.gov/omim/?term=610323	http://www.informatics.jax.org/searchtool/Search.do?query=MTDH&submit=Quick%0D%9033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTDH	rs34735761	0.297724	0	0	1	0	0	intronic	intronic	intronic	MTDH	MTDH	ENSG00000147649	Na	Na	Na	Na	Na	Na	Het;-T	153;2|6	Hom;-T	142;0|5
N	N	-	8	98736676	98736676	T	C	snp	intronic	 	 	 	 	MTDH	Mtdh	ENSG00000147649	metadherin	chr8:98656407-98740998		Migraine	Mice homozygous for a null allele are viable and fertile with decreased incidence of tumors by chemical induction.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IMP|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0070830;bicellular tight junction assembly;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IEA|GO:0031965;nuclear membrane;IEA|GO:0046581;intercellular canaliculus;ISS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0003713;transcription coactivator activity;IMP|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0051059;NF-kappaB binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MTDH	https://www.uniprot.org/uniprot/Q86UE4		https://www.ncbi.nlm.nih.gov/omim/?term=610323	http://www.informatics.jax.org/searchtool/Search.do?query=MTDH&submit=Quick%0D%9033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTDH	rs2468004	0.170527	0	0	1	0	0	intronic	intronic	intronic	MTDH	MTDH	ENSG00000147649	Na	Na	Na	Na	Na	Na	Het;T>C	32;3|2	Hom;T>C	321;0|9
N	N	-	8	98827531	98827531	G	A	snp	splicing	373-1G>A	 	 	 	LAPTM4B	Laptm4b	ENSG00000104341	lysosomal protein transmembrane 4 beta	chr8:98787285-98865241		Colonic Neoplasms|Esophageal Neoplasms|Oesophageal neoplasm|Rectal Neoplasms; stomach cancer; Tobacco Use Disorder; Blood Coagulation Factors; Receptors, Tumor Necrosis Factor, Type II; lung cancer	 		GO:0006810;transport;IEA	GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAPTM4B	https://www.uniprot.org/uniprot/Q86VI4		https://www.ncbi.nlm.nih.gov/omim/?term=613296	http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM4B&submit=Quick%0D%3107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM4B	rs7818775	0.440096	0.4278	0.4840	0.25	1	4	intronic	intronic	splicing	LAPTM4B	LAPTM4B	ENSG00000104341(ENST00000517924:exon3:c.373-1G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	518;33|26	Hom;G>A	1412;0|52
N	N	-	8	98827636	98827636	C	A	snp	intronic	 	 	 	 	LAPTM4B	Laptm4b	ENSG00000104341	lysosomal protein transmembrane 4 beta	chr8:98787285-98865241		Colonic Neoplasms|Esophageal Neoplasms|Oesophageal neoplasm|Rectal Neoplasms; stomach cancer; Tobacco Use Disorder; Blood Coagulation Factors; Receptors, Tumor Necrosis Factor, Type II; lung cancer	 		GO:0006810;transport;IEA	GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAPTM4B	https://www.uniprot.org/uniprot/Q86VI4		https://www.ncbi.nlm.nih.gov/omim/?term=613296	http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM4B&submit=Quick%0D%3107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM4B	rs7818662	0.440296	0.4421	0.4814	1	0	0	intronic	intronic	intronic	LAPTM4B	LAPTM4B	ENSG00000104341	Na	Na	Na	Na	Na	Na	Het;C>A	770;40|38	Hom;C>A	2092;0|79
N	N	-	8	98828215	98828215	A	ACTT	indel	intronic	 	 	 	 	LAPTM4B	Laptm4b	ENSG00000104341	lysosomal protein transmembrane 4 beta	chr8:98787285-98865241		Colonic Neoplasms|Esophageal Neoplasms|Oesophageal neoplasm|Rectal Neoplasms; stomach cancer; Tobacco Use Disorder; Blood Coagulation Factors; Receptors, Tumor Necrosis Factor, Type II; lung cancer	 		GO:0006810;transport;IEA	GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAPTM4B	https://www.uniprot.org/uniprot/Q86VI4		https://www.ncbi.nlm.nih.gov/omim/?term=613296	http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM4B&submit=Quick%0D%3107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM4B	rs3073521	0.440096	0	0	1	0	0	intronic	intronic	intronic	LAPTM4B	LAPTM4B	ENSG00000104341	Na	Na	Na	Na	Na	Na	Het;+CTT	204;12|7	Hom;+CTT	576;0|14
N	N	-	8	98828529	98828529	A	G	snp	intronic	 	 	 	 	LAPTM4B	Laptm4b	ENSG00000104341	lysosomal protein transmembrane 4 beta	chr8:98787285-98865241		Colonic Neoplasms|Esophageal Neoplasms|Oesophageal neoplasm|Rectal Neoplasms; stomach cancer; Tobacco Use Disorder; Blood Coagulation Factors; Receptors, Tumor Necrosis Factor, Type II; lung cancer	 		GO:0006810;transport;IEA	GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAPTM4B	https://www.uniprot.org/uniprot/Q86VI4		https://www.ncbi.nlm.nih.gov/omim/?term=613296	http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM4B&submit=Quick%0D%3107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM4B	rs2331656	0.432708	0	0	1	0	0	intronic	intronic	intronic	LAPTM4B	LAPTM4B	ENSG00000104341	Na	Na	Na	Na	Na	Na	Het;A>G	168;3|5	Hom;A>G	462;0|11
N	N	-	8	98828532	98828532	C	G	snp	intronic	 	 	 	 	LAPTM4B	Laptm4b	ENSG00000104341	lysosomal protein transmembrane 4 beta	chr8:98787285-98865241		Colonic Neoplasms|Esophageal Neoplasms|Oesophageal neoplasm|Rectal Neoplasms; stomach cancer; Tobacco Use Disorder; Blood Coagulation Factors; Receptors, Tumor Necrosis Factor, Type II; lung cancer	 		GO:0006810;transport;IEA	GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAPTM4B	https://www.uniprot.org/uniprot/Q86VI4		https://www.ncbi.nlm.nih.gov/omim/?term=613296	http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM4B&submit=Quick%0D%3107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM4B	rs2331657	0.440096	0	0	1	0	0	intronic	intronic	intronic	LAPTM4B	LAPTM4B	ENSG00000104341	Na	Na	Na	Na	Na	Na	Het;C>G	168;3|4	Hom;C>G	462;0|10
N	N	-	8	98831577	98831577	G	A	snp	intronic	 	 	 	 	LAPTM4B	Laptm4b	ENSG00000104341	lysosomal protein transmembrane 4 beta	chr8:98787285-98865241		Colonic Neoplasms|Esophageal Neoplasms|Oesophageal neoplasm|Rectal Neoplasms; stomach cancer; Tobacco Use Disorder; Blood Coagulation Factors; Receptors, Tumor Necrosis Factor, Type II; lung cancer	 		GO:0006810;transport;IEA	GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAPTM4B	https://www.uniprot.org/uniprot/Q86VI4		https://www.ncbi.nlm.nih.gov/omim/?term=613296	http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM4B&submit=Quick%0D%3107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM4B	rs62524114	0.439297	0	0	1	0	0	intronic	intronic	intronic	LAPTM4B	LAPTM4B	ENSG00000104341	Na	Na	Na	Na	Na	Na	Het;G>A	141;10|7	Hom;G>A	634;0|22
N	N	-	8	98865287	98865287	G	A	snp	ncRNA_exonic	 	 	 	 	AP002906.1																		rs11991357	0.44988	0	0	1	0	0	downstream	downstream	ncRNA_exonic	LAPTM4B	LAPTM4B	ENSG00000270861	Na	Na	Na	Na	Na	Na	Het;G>A	565;21|27	Hom;G>A	1066;0|39
N	N	-	8	98943205	98943205	C	T	snp	nonsynonymous SNV	C167T	A56V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs138635803	0.00379393	0.0024	0.0051	0.31	4	13	exonic	exonic	exonic	MATN2	MATN2	ENSG00000132561	nonsynonymous SNV	nonsynonymous SNV	unknown	MATN2:NM_030583:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,	MATN2:uc010mbh.1:exon3:c.C167T:p.A56V,MATN2:uc003yic.3:exon3:c.C167T:p.A56V,MATN2:uc003yid.3:exon3:c.C167T:p.A56V,MATN2:uc003yie.1:exon2:c.C167T:p.A56V,MATN2:uc003yib.1:exon3:c.C167T:p.A56V,	UNKNOWN	Het;C>T	1152;68|58	Hom;C>T	2906;1|107
N	N	-	8	99006736	99006736	C	T	snp	synonymous SNV	C609T	H203H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs11559202	0.121605	0.1604	0.1389	1	0	0	exonic	exonic	exonic	MATN2	MATN2	ENSG00000132561	synonymous SNV	synonymous SNV	unknown	MATN2:NM_030583:exon7:c.C1110T:p.H370H,MATN2:NM_002380:exon7:c.C1110T:p.H370H,	MATN2:uc010mbi.1:exon4:c.C609T:p.H203H,MATN2:uc003yic.3:exon7:c.C1110T:p.H370H,MATN2:uc003yid.3:exon7:c.C1110T:p.H370H,MATN2:uc003yie.1:exon6:c.C1110T:p.H370H,MATN2:uc003yib.1:exon7:c.C1110T:p.H370H,	UNKNOWN	Het;C>T	261;38|17	Hom;C>T	1090;0|43
N	N	-	8	99006748	99006748	C	T	snp	synonymous SNV	C621T	H207H	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs11559201	0.121805	0.1604	0.1388	1	0	0	exonic	exonic	exonic	MATN2	MATN2	ENSG00000132561	synonymous SNV	synonymous SNV	unknown	MATN2:NM_030583:exon7:c.C1122T:p.H374H,MATN2:NM_002380:exon7:c.C1122T:p.H374H,	MATN2:uc010mbi.1:exon4:c.C621T:p.H207H,MATN2:uc003yic.3:exon7:c.C1122T:p.H374H,MATN2:uc003yid.3:exon7:c.C1122T:p.H374H,MATN2:uc003yie.1:exon6:c.C1122T:p.H374H,MATN2:uc003yib.1:exon7:c.C1122T:p.H374H,	UNKNOWN	Het;C>T	299;44|20	Hom;C>T	1206;0|48
N	N	-	8	99016092	99016092	A	G	snp	UTR3	*52A>G	 	 	 	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs10955143	0.52496	0	0	1	0	0	intronic	UTR3	intronic	MATN2	MATN2(uc003yib.1:c.*52A>G)	ENSG00000132561	Na	Na	Na	Na	Na	Na	Het;A>G	543;16|21	Hom;A>G	839;0|30
N	N	-	8	99016182	99016182	G	A	snp	UTR3	*142G>A	 	 	 	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs10955144	0.439896	0	0	1	0	0	intronic	UTR3	intronic	MATN2	MATN2(uc003yib.1:c.*142G>A)	ENSG00000132561	Na	Na	Na	Na	Na	Na	Het;G>A	102;3|5	Hom;G>A	161;0|6
N	N	-	8	99033328	99033328	A	G	snp	intronic	 	 	 	 	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs6987112	0.242212	0	0	1	0	0	intronic	intronic	intronic	MATN2	MATN2	ENSG00000132561	Na	Na	Na	Na	Na	Na	Het;A>G	218;19|8	Hom;A>G	736;0|19
N	N	-	8	99040154	99040154	A	C	snp	intronic	 	 	 	 	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs2290467	0.0824681	0	0	1	0	0	intronic	intronic	intronic	MATN2	MATN2,RPL30	ENSG00000132561	Na	Na	Na	Na	Na	Na	Het;A>C	194;3|8	Hom;A>C	218;0|7
N	N	-	8	99045454	99045454	G	A	snp	intronic	 	 	 	 	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs6985709	0.237021	0.2645	0.1917	1	0	0	intronic	intronic	intronic	MATN2	MATN2,RPL30	ENSG00000132561	Na	Na	Na	Na	Na	Na	Het;G>A	220;27|14	Hom;G>A	1113;0|40
N	N	-	8	99048049	99048049	A	G	snp	UTR3	*109A>G	 	 	 	MATN2	Matn2	ENSG00000132561	matrilin 2	chr8:98881068-99048944	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mice are healthy and fertile with no obvious abnormalities.		GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA	GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MATN2	https://www.uniprot.org/uniprot/O00339		https://www.ncbi.nlm.nih.gov/omim/?term=602108	http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2	rs3088121	0.0826677	0	0	1	0	0	UTR3	UTR3	UTR3	MATN2(NM_030583:c.*109A>G,NM_002380:c.*109A>G)	MATN2(uc003yic.3:c.*109A>G,uc003yid.3:c.*109A>G)	ENSG00000132561(ENST00000521689:c.*109A>G,ENST00000254898:c.*109A>G,ENST00000524308:c.*109A>G,ENST00000522025:c.*109A>G,ENST00000520016:c.*109A>G,ENST00000518154:c.*109A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	240;11|9	Hom;A>G	735;0|22
N	N	-	8	99057526	99057526	G	A	snp	intronic	 	 	 	 	RPL30	Rpl30	ENSG00000156482	ribosomal protein L30	chr8:99037079-99058697	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]		 	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;NAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0097421;liver regeneration;IEA|GO:1904571;positive regulation of selenocysteine incorporation;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI|GO:0035368;selenocysteine insertion sequence binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPL30	https://www.uniprot.org/uniprot/P62888		https://www.ncbi.nlm.nih.gov/omim/?term=180467	http://www.informatics.jax.org/searchtool/Search.do?query=RPL30&submit=Quick%0D%9987ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL30	rs812	0.250599	0.4526	0.4163	1	0	0	intronic	intronic	intronic	RPL30	RPL30	ENSG00000156482	Na	Na	Na	Na	Na	Na	Het;G>A	442;30|21	Hom;G>A	1030;0|40
N	N	-	8	99162888	99162888	A	G	snp	intronic	 	 	 	 	POP1	Pop1	ENSG00000104356	POP1 homolog, ribonuclease P/MRP subunit	chr8:99129525-99172062	This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]	Body Height; esophageal adenocarcinoma; Prion Diseases	 	tRNA processing in the nucleus	GO:0001682;tRNA 5'-leader removal;IEA|GO:0006396;RNA processing;IEA|GO:0008033;tRNA processing;IEA|GO:0016078;tRNA catabolic process;IDA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA	GO:0000172;ribonuclease MRP complex;IDA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005794;Golgi apparatus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000171;ribonuclease MRP activity;IDA|GO:0003723;RNA binding;IDA|GO:0004526;ribonuclease P activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POP1	https://www.uniprot.org/uniprot/Q99575	https://hpo.jax.org/app/browse/search?q=POP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602486	http://www.informatics.jax.org/searchtool/Search.do?query=POP1&submit=Quick%0D%3109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POP1	rs4735530	0.700879	0.7003	0.6417	1	0	0	intronic	intronic	intronic	POP1	POP1	ENSG00000104356	Na	Na	Na	Na	Na	Na	Het;A>G	972;31|43	Hom;A>G	1820;0|65
N	N	-	9	100881525	100881525	C	G	snp	UTR5	-55G>C	 	 	 	TRIM14	Trim14	ENSG00000106785	tripartite motif containing 14	chr9:100831557-100881494	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]	Body Height; Cleft Lip|Cleft Palate|Tooth Abnormalities	 	Interferon gamma signaling	GO:0032897;negative regulation of viral transcription;IDA|GO:0045087;innate immune response;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA	GO:0005622;intracellular;IEA	GO:0003674;molecular_function;ND|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM14	https://www.uniprot.org/uniprot/Q14142		https://www.ncbi.nlm.nih.gov/omim/?term=606556	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM14&submit=Quick%0D%3550ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM14	rs2761063	0.607428	0	0	1	0	0	UTR5	upstream	upstream	TRIM14(NM_014788:c.-55G>C,NM_033219:c.-55G>C)	TRIM14	ENSG00000106785	Na	Na	Na	Na	Na	Na	Het;C>G	72;7|4	Hom;C>G	416;0|14
N	N	-	9	100965472	100965472	C	T	snp	intronic	 	 	 	 	TBC1D2	Tbc1d2	ENSG00000095383	TBC1 domain family member 2	chr9:100961311-101017915		Cleft Lip|Cleft Palate; Hemoglobins; Multiple Sclerosis; Erythrocyte Count	 	TBC/RABGAPs	GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0090630;activation of GTPase activity;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0012505;endomembrane system;IBA|GO:0030054;cell junction;IDA|GO:0031410;cytoplasmic vesicle;IDA	GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0045296;cadherin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D2	https://www.uniprot.org/uniprot/Q9BYX2		https://www.ncbi.nlm.nih.gov/omim/?term=609871	http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D2&submit=Quick%0D%2245ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D2	rs3739667	0.633786	0	0	1	0	0	intronic	intronic	intronic	TBC1D2	TBC1D2	ENSG00000095383	Na	Na	Na	Na	Na	Na	Het;C>T	224;2|8	Hom;C>T	138;0|5
N	N	-	9	101006443	101006443	T	C	snp	intronic	 	 	 	 	TBC1D2	Tbc1d2	ENSG00000095383	TBC1 domain family member 2	chr9:100961311-101017915		Cleft Lip|Cleft Palate; Hemoglobins; Multiple Sclerosis; Erythrocyte Count	 	TBC/RABGAPs	GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0090630;activation of GTPase activity;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0012505;endomembrane system;IBA|GO:0030054;cell junction;IDA|GO:0031410;cytoplasmic vesicle;IDA	GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0045296;cadherin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D2	https://www.uniprot.org/uniprot/Q9BYX2		https://www.ncbi.nlm.nih.gov/omim/?term=609871	http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D2&submit=Quick%0D%2245ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D2	rs10818669	0.582268	0.6122	0.5220	1	0	0	intronic	intronic	intronic	TBC1D2	TBC1D2	ENSG00000095383	Na	Na	Na	Na	Na	Na	Het;T>C	383;16|18	Hom;T>C	437;2|17
N	N	-	9	101244296	101244296	C	T	snp	intronic	 	 	 	 	GABBR2	Gabbr2	ENSG00000136928	gamma-aminobutyric acid type B receptor subunit 2	chr9:101050391-101471479	The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]	Parkinson Disease; patent ductus arteriosus; Hyperparathyroidism, Secondary; Epilepsy, Temporal Lobe|; Arteries; Body Height; Asthma; Cleft Lip|Cleft Palate|Tooth Abnormalities; Forced Vital Capacity; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar Disorder; Forced Expiratory Volume; several psychiatric disorders; Tobacco Use Disorder; Cleft Lip|Cleft Palate	Homozygous mutation of this gene results in clonic seizures, hyperactivity, hyperalgesia in response to thermal or mechanical stimuli, increased anxiety, and decreased depression-related behavior.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007194;negative regulation of adenylate cyclase activity;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IDA|GO:0007268;chemical synaptic transmission;TAS	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0038039;G-protein coupled receptor heterodimeric complex;IPI|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902710;GABA receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004965;G-protein coupled GABA receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GABBR2	https://www.uniprot.org/uniprot/O75899	https://hpo.jax.org/app/browse/search?q=GABBR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607340	http://www.informatics.jax.org/searchtool/Search.do?query=GABBR2&submit=Quick%0D%7439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABBR2	rs2151212	0.290735	0	0	1	0	0	intronic	intronic	intronic	GABBR2	GABBR2	ENSG00000136928	Na	Na	Na	Na	Na	Na	Het;C>T	74;6|5	Hom;C>T	126;0|5
N	N	-	9	101258803	101258803	G	A	snp	intronic	 	 	 	 	GABBR2	Gabbr2	ENSG00000136928	gamma-aminobutyric acid type B receptor subunit 2	chr9:101050391-101471479	The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]	Parkinson Disease; patent ductus arteriosus; Hyperparathyroidism, Secondary; Epilepsy, Temporal Lobe|; Arteries; Body Height; Asthma; Cleft Lip|Cleft Palate|Tooth Abnormalities; Forced Vital Capacity; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar Disorder; Forced Expiratory Volume; several psychiatric disorders; Tobacco Use Disorder; Cleft Lip|Cleft Palate	Homozygous mutation of this gene results in clonic seizures, hyperactivity, hyperalgesia in response to thermal or mechanical stimuli, increased anxiety, and decreased depression-related behavior.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007194;negative regulation of adenylate cyclase activity;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IDA|GO:0007268;chemical synaptic transmission;TAS	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0038039;G-protein coupled receptor heterodimeric complex;IPI|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902710;GABA receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004965;G-protein coupled GABA receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GABBR2	https://www.uniprot.org/uniprot/O75899	https://hpo.jax.org/app/browse/search?q=GABBR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607340	http://www.informatics.jax.org/searchtool/Search.do?query=GABBR2&submit=Quick%0D%7439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABBR2	rs16916507	0.233427	0.3042	0.2514	1	0	0	intronic	intronic	intronic	GABBR2	GABBR2	ENSG00000136928	Na	Na	Na	Na	Na	Na	Het;G>A	781;49|40	Hom;G>A	2299;0|91
N	N	-	9	101258881	101258881	T	C	snp	intronic	 	 	 	 	GABBR2	Gabbr2	ENSG00000136928	gamma-aminobutyric acid type B receptor subunit 2	chr9:101050391-101471479	The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]	Parkinson Disease; patent ductus arteriosus; Hyperparathyroidism, Secondary; Epilepsy, Temporal Lobe|; Arteries; Body Height; Asthma; Cleft Lip|Cleft Palate|Tooth Abnormalities; Forced Vital Capacity; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar Disorder; Forced Expiratory Volume; several psychiatric disorders; Tobacco Use Disorder; Cleft Lip|Cleft Palate	Homozygous mutation of this gene results in clonic seizures, hyperactivity, hyperalgesia in response to thermal or mechanical stimuli, increased anxiety, and decreased depression-related behavior.	Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007194;negative regulation of adenylate cyclase activity;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IDA|GO:0007268;chemical synaptic transmission;TAS	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0038039;G-protein coupled receptor heterodimeric complex;IPI|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902710;GABA receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004965;G-protein coupled GABA receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GABBR2	https://www.uniprot.org/uniprot/O75899	https://hpo.jax.org/app/browse/search?q=GABBR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607340	http://www.informatics.jax.org/searchtool/Search.do?query=GABBR2&submit=Quick%0D%7439ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GABBR2	rs1000440	0.491014	0	0	1	0	0	intronic	intronic	intronic	GABBR2	GABBR2	ENSG00000136928	Na	Na	Na	Na	Na	Na	Het;T>C	419;27|19	Hom;T>C	1290;0|45
N	N	-	9	101652851	101652851	G	T	snp	upstream	 	 	 	 	AL136084.1																		rs1028658	0.70028	0	0	1	0	0	intergenic	intergenic	upstream	GALNT12(dist=40488),COL15A1(dist=53144)	GALNT12(dist=40488),COL15A1(dist=53144)	ENSG00000229338	Na	Na	Na	Na	Na	Na	Het;G>T	56;1|4	Hom;G>T	128;0|5
N	N	-	9	101796906	101796906	T	TCTCCCTC	indel	intronic	 	 	 	 	COL15A1	Col15a1	ENSG00000204291	collagen type XV alpha 1 chain	chr9:101705461-101833069	This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]	Thyrotropin; Scleroderma, Systemic; kidney aging	Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;NAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005582;collagen type XV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016021;integral component of membrane;NAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005201;extracellular matrix structural constituent;IC	http://www.genecards.org/index.php?path=/Search/keyword/COL15A1			https://www.ncbi.nlm.nih.gov/omim/?term=120325	http://www.informatics.jax.org/searchtool/Search.do?query=COL15A1&submit=Quick%0D%17248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL15A1	rs11281933	0	0.5767	0.6385	1	0	0	intronic	intronic	intronic	COL15A1	COL15A1	ENSG00000204291	Na	Na	Na	Na	Na	Na	Het;+CTCCCTC	41;2|2	Hom;+CTCCCTC	122;0|3
N	N	-	9	101814626	101814626	C	G	snp	intronic	 	 	 	 	COL15A1	Col15a1	ENSG00000204291	collagen type XV alpha 1 chain	chr9:101705461-101833069	This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]	Thyrotropin; Scleroderma, Systemic; kidney aging	Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;NAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005582;collagen type XV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016021;integral component of membrane;NAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005201;extracellular matrix structural constituent;IC	http://www.genecards.org/index.php?path=/Search/keyword/COL15A1			https://www.ncbi.nlm.nih.gov/omim/?term=120325	http://www.informatics.jax.org/searchtool/Search.do?query=COL15A1&submit=Quick%0D%17248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL15A1	rs4142986	0.848442	0.7656	0.7478	1	0	0	intronic	intronic	intronic	COL15A1	COL15A1	ENSG00000204291	Na	Na	Na	Na	Na	Na	Het;C>G	451;17|22	Hom;C>G	883;0|34
N	N	-	9	103698968	103698968	A	AC	indel	intergenic	 	 	 	 	AL162395.1																		rs34644287	0.73143	0	0	1	0	0	intergenic	intergenic	intergenic	MURC(dist=348299),LPPR1(dist=92063)	DQ580140(dist=204898),LPPR1(dist=92063)	ENSG00000230161(dist=23945),ENSG00000229541(dist=38982)	Na	Na	Na	Na	Na	Na	Het;+C	51;5|3	Hom;+C	187;0|6
N	N	-	9	104161154	104161154	C	A	snp	UTR5	-9182C>A	 	 	 	ZNF189	Zfp189	ENSG00000136870	zinc finger protein 189	chr9:104161155-104172942	Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]	Cleft Lip|Cleft Palate	 	Generic Transcription Pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF189	https://www.uniprot.org/uniprot/O75820		https://www.ncbi.nlm.nih.gov/omim/?term=603132	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF189&submit=Quick%0D%7424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF189	rs2253258	0.88119	0	0	1	0	0	UTR5	UTR5	upstream	ZNF189(NM_197977:c.-1105C>A,NM_001278232:c.-285C>A,NM_001278231:c.-285C>A,NM_003452:c.-285C>A,NM_001278240:c.-285C>A)	ZNF189(uc031tep.1:c.-9182C>A,uc031teq.1:c.-285C>A,uc004bbg.2:c.-1105C>A,uc004bbi.2:c.-285C>A,uc004bbh.2:c.-285C>A,uc011lvk.2:c.-285C>A)	ENSG00000136870,ENSG00000136897	Na	Na	Na	Na	Na	Na	Het;C>A	532;6|17	Hom;C>A	694;0|22
N	N	-	9	105150209	105150209	G	GA	indel	intergenic	 	 	 	 	ENSG00000222117																		rs11391259	0.359625	0	0	1	0	0	intergenic	intergenic	intergenic	GRIN3A(dist=649347),LINC00587(dist=131710)	GRIN3A(dist=649347),CYLC2(dist=607384)	ENSG00000222117(dist=92463),ENSG00000235901(dist=127277)	Na	Na	Na	Na	Na	Na	Het;+A	282;7|13	Hom;+A	548;0|20
N	N	-	9	105967976	105967976	G	A	snp	ncRNA_intronic	 	 	 	 	BC035187																		rs12686417	0.428914	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01492	BC035187	ENSG00000225564	Na	Na	Na	Na	Na	Na	Het;G>A	92;11|6	Hom;G>A	389;0|14
N	N	-	9	10617850	10617850	C	T	snp	ncRNA_intronic	 	 	 	 	PTPRD-AS2																		rs7873789	0.270966	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	PTPRD-AS2	PTPRD(dist=5127),JB175300(dist=1136184)	ENSG00000226717	Na	Na	Na	Na	Na	Na	Het;C>T	712;25|32	Hom;C>T	1562;0|61
N	N	-	9	107198823	107198823	C	T	snp	intergenic	 	 	 	 	AL512646.1																		rs10117750	0.755192	0	0	1	0	0	intergenic	intergenic	intergenic	SMC2(dist=295123),OR13F1(dist=67721)	SMC2(dist=295123),OR13F1(dist=67721)	ENSG00000203396(dist=107146),ENSG00000186881(dist=67632)	Na	Na	Na	Na	Na	Na	Het;C>T	419;33|22	Hom;C>T	856;0|32
N	N	-	9	107266596	107266596	T	C	snp	nonsynonymous SNV	T53C	F18S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	OR13F1	Olfr275	ENSG00000186881	olfactory receptor family 13 subfamily F member 1	chr9:107266455-107267547	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Socioeconomic Factors	 	Olfactory Signaling Pathway	GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA	GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13F1				http://www.informatics.jax.org/searchtool/Search.do?query=OR13F1&submit=Quick%0D%15729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13F1	rs7049042	0.783546	0.7716	0.7411	0.08	1	13	exonic	exonic	exonic	OR13F1	OR13F1	ENSG00000186881	nonsynonymous SNV	nonsynonymous SNV	unknown	OR13F1:NM_001004485:exon1:c.T53C:p.F18S,	OR13F1:uc011lvm.2:exon1:c.T53C:p.F18S,	UNKNOWN	Het;T>C	707;44|32	Hom;T>C	2694;0|95
N	N	-	9	107266774	107266774	C	G	snp	synonymous SNV	C231G	A77A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR13F1	Olfr275	ENSG00000186881	olfactory receptor family 13 subfamily F member 1	chr9:107266455-107267547	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Socioeconomic Factors	 	Olfactory Signaling Pathway	GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA	GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13F1				http://www.informatics.jax.org/searchtool/Search.do?query=OR13F1&submit=Quick%0D%15729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13F1	rs1949755	0.783347	0.7716	0.7407	1	0	0	exonic	exonic	exonic	OR13F1	OR13F1	ENSG00000186881	synonymous SNV	synonymous SNV	unknown	OR13F1:NM_001004485:exon1:c.C231G:p.A77A,	OR13F1:uc011lvm.2:exon1:c.C231G:p.A77A,	UNKNOWN	Het;C>G	1077;60|54	Hom;C>G	3264;2|115
N	N	-	9	107266844	107266844	A	G	snp	nonsynonymous SNV	A301G	M101V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR13F1	Olfr275	ENSG00000186881	olfactory receptor family 13 subfamily F member 1	chr9:107266455-107267547	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Socioeconomic Factors	 	Olfactory Signaling Pathway	GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA	GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13F1				http://www.informatics.jax.org/searchtool/Search.do?query=OR13F1&submit=Quick%0D%15729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13F1	rs1403812	0.783946	0.7716	0.7407	0.46	6	13	exonic	exonic	exonic	OR13F1	OR13F1	ENSG00000186881	nonsynonymous SNV	nonsynonymous SNV	unknown	OR13F1:NM_001004485:exon1:c.A301G:p.M101V,	OR13F1:uc011lvm.2:exon1:c.A301G:p.M101V,	UNKNOWN	Het;A>G	852;44|35	Hom;A>G	2023;0|68
N	N	-	9	107266943	107266943	G	A	snp	nonsynonymous SNV	G400A	V134I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR13F1	Olfr275	ENSG00000186881	olfactory receptor family 13 subfamily F member 1	chr9:107266455-107267547	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Socioeconomic Factors	 	Olfactory Signaling Pathway	GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA	GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13F1				http://www.informatics.jax.org/searchtool/Search.do?query=OR13F1&submit=Quick%0D%15729ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13F1	rs1403811	0.782748	0.7716	0.7404	0.08	1	13	exonic	exonic	exonic	OR13F1	OR13F1	ENSG00000186881	nonsynonymous SNV	nonsynonymous SNV	unknown	OR13F1:NM_001004485:exon1:c.G400A:p.V134I,	OR13F1:uc011lvm.2:exon1:c.G400A:p.V134I,	UNKNOWN	Het;G>A	1147;49|53	Hom;G>A	2800;2|104
N	N	-	9	107361111	107361111	T	C	snp	nonsynonymous SNV	A584G	N195S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OR13C5		ENSG00000277556	olfactory receptor family 13 subfamily C member 5	chr9:107360650-107361788	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]			Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13C5				http://www.informatics.jax.org/searchtool/Search.do?query=OR13C5&submit=Quick%0D%21853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13C5	rs6479259	0.133586	0.1049	0.0483	0.42	5	12	exonic	exonic	exonic	OR13C5	OR13C5	ENSG00000255800	nonsynonymous SNV	nonsynonymous SNV	unknown	OR13C5:NM_001004482:exon1:c.A584G:p.N195S,	OR13C5:uc011lvp.2:exon1:c.A584G:p.N195S,	UNKNOWN	Het;T>C	2380;127|103	Hom;T>C	5165;1|173
N	N	-	9	107457275	107457275	A	C	snp	nonsynonymous SNV	A573C	Q191H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	OR13D1	Olfr270	ENSG00000179055	olfactory receptor family 13 subfamily D member 1	chr9:107456660-107457766	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13D1				http://www.informatics.jax.org/searchtool/Search.do?query=OR13D1&submit=Quick%0D%14281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13D1	rs10820709	0.487021	0.4144	0.3842	0.23	3	13	exonic	exonic	exonic	OR13D1	OR13D1	ENSG00000179055	nonsynonymous SNV	nonsynonymous SNV	unknown	OR13D1:NM_001004484:exon1:c.A573C:p.Q191H,	OR13D1:uc011lvs.2:exon1:c.A573C:p.Q191H,	UNKNOWN	Het;A>C	2039;112|95	Hom;A>C	5224;2|184
N	N	-	9	107457332	107457332	C	T	snp	synonymous SNV	C630T	T210T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OR13D1	Olfr270	ENSG00000179055	olfactory receptor family 13 subfamily D member 1	chr9:107456660-107457766	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13D1				http://www.informatics.jax.org/searchtool/Search.do?query=OR13D1&submit=Quick%0D%14281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13D1	rs61742675	0.118011	0.0853	0.0425	1	0	0	exonic	exonic	exonic	OR13D1	OR13D1	ENSG00000179055	synonymous SNV	synonymous SNV	unknown	OR13D1:NM_001004484:exon1:c.C630T:p.T210T,	OR13D1:uc011lvs.2:exon1:c.C630T:p.T210T,	UNKNOWN	Het;C>T	2261;102|105	Hom;C>T	4371;2|159
N	N	-	9	107485120	107485120	T	C	snp	ncRNA_exonic	 	 	 	 	OR13D3P																		rs59134781	0.0790735	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	OR13D1(dist=27377),NIPSNAP3A(dist=24849)	OR13D1(dist=27377),NIPSNAP3A(dist=24849)	ENSG00000188712	Na	Na	Na	Na	Na	Na	Het;T>C	982;60|48	Hom;T>C	2058;0|75
N	N	-	9	107515214	107515214	G	A	snp	nonsynonymous SNV	G299A	R100Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NIPSNAP3A	Nipsnap3b	ENSG00000136783	nipsnap homolog 3A	chr9:107509969-107522403	NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 			GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IBA|GO:0005829;cytosol;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NIPSNAP3A	https://www.uniprot.org/uniprot/Q9UFN0		https://www.ncbi.nlm.nih.gov/omim/?term=608871	http://www.informatics.jax.org/searchtool/Search.do?query=NIPSNAP3A&submit=Quick%0D%7399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPSNAP3A	rs2274870	0.63758	0.6757	0.6180	0.54	7	13	exonic	exonic	exonic	NIPSNAP3A	NIPSNAP3A	ENSG00000136783	nonsynonymous SNV	nonsynonymous SNV	unknown	NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q,	NIPSNAP3A:uc004bch.1:exon3:c.G299A:p.R100Q,NIPSNAP3A:uc011lvu.1:exon3:c.G299A:p.R100Q,NIPSNAP3A:uc011lvt.2:exon3:c.G299A:p.R100Q,	UNKNOWN	Het;G>A	722;39|36	Hom;G>A	1627;0|61
N	N	-	9	107531361	107531361	T	C	snp	intronic	 	 	 	 	NIPSNAP3B	 	ENSG00000165028	nipsnap homolog 3B	chr9:107526438-107539738	NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease; Acquired Immunodeficiency Syndrome|Disease Progression	 			GO:0005739;mitochondrion;IBA		http://www.genecards.org/index.php?path=/Search/keyword/NIPSNAP3B			https://www.ncbi.nlm.nih.gov/omim/?term=608872	http://www.informatics.jax.org/searchtool/Search.do?query=NIPSNAP3B&submit=Quick%0D%11449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPSNAP3B	rs2472478	0.633187	0	0	1	0	0	intronic	intronic	intronic	NIPSNAP3B	NIPSNAP3A,NIPSNAP3B	ENSG00000165028	Na	Na	Na	Na	Na	Na	Het;T>C	450;17|18	Hom;T>C	1451;0|47
N	N	-	9	107538677	107538677	T	TC	indel	ncRNA_exonic	 	 	 	 	LOC286367																		rs397797756	0.771565	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	LOC286367	LOC286367	ENSG00000165028	Na	Na	Na	Na	Na	Na	Het;+C	407;4|18	Hom;+C	1143;0|39
N	N	-	9	107538913	107538913	G	C	snp	ncRNA_exonic	 	 	 	 	LOC286367																		rs56888257	0.0822684	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	LOC286367	LOC286367	ENSG00000165028	Na	Na	Na	Na	Na	Na	Het;G>C	1239;62|52	Hom;G>C	3411;0|109
N	N	-	9	107539341	107539341	T	C	snp	ncRNA_exonic	 	 	 	 	LOC286367																		rs79900774	0.0970447	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	LOC286367	LOC286367	ENSG00000165028	Na	Na	Na	Na	Na	Na	Het;T>C	2068;109|89	Hom;T>C	6104;3|211
N	N	-	9	107544943	107544943	A	T	snp	UTR3	*1653T>A	 	 	 	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs41432545	0.0820687	0	0	1	0	0	UTR3	UTR3	UTR3	ABCA1(NM_005502:c.*1653T>A)	ABCA1(uc004bcl.3:c.*1653T>A)	ENSG00000165029(ENST00000374736:c.*1653T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	232;33|12	Hom;A>T	2035;0|74
N	N	-	9	107546201	107546201	A	T	snp	UTR3	*395T>A	 	 	 	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs73517870	0.0820687	0	0	1	0	0	UTR3	UTR3	UTR3	ABCA1(NM_005502:c.*395T>A)	ABCA1(uc004bcl.3:c.*395T>A)	ENSG00000165029(ENST00000374736:c.*395T>A)	Na	Na	Na	Na	Na	Na	Het;A>T	604;36|31	Hom;A>T	2121;0|81
N	N	-	9	107564570	107564572	CAG	C	indel	intronic	 	 	 	 	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs373740929	0.530551	0	0	1	0	0	intronic	intronic	intronic	ABCA1	ABCA1	ENSG00000165029	Na	Na	Na	Na	Na	Na	Het;-AG	250;15|8	Hom;-AG	274;0|7
N	N	-	9	107566877	107566877	C	A	snp	intronic	 	 	 	 	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs2777801	0.88119	0.8556	0.8842	1	0	0	intronic	intronic	intronic	ABCA1	ABCA1	ENSG00000165029	Na	Na	Na	Na	Na	Na	Het;C>A	486;14|22	Hom;C>A	978;0|34
N	N	-	9	107589134	107589134	A	T	snp	intronic	 	 	 	 	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs4149310	0.464257	0	0	1	0	0	intronic	intronic	intronic	ABCA1	ABCA1	ENSG00000165029	Na	Na	Na	Na	Na	Na	Het;A>T	723;15|31	Hom;A>T	1176;2|43
N	N	-	9	107593182	107593182	A	T	snp	intronic	 	 	 	 	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs4743763	0.547524	0.4395	0.3676	1	0	0	intronic	intronic	intronic	ABCA1	ABCA1	ENSG00000165029	Na	Na	Na	Na	Na	Na	Het;A>T	238;11|12	Hom;A>T	565;0|21
N	N	-	9	107599438	107599438	G	GC	indel	intronic	 	 	 	 	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs4149346	0.557109	0	0	1	0	0	intronic	intronic	intronic	ABCA1	ABCA1	ENSG00000165029	Na	Na	Na	Na	Na	Na	Het;+C	148;13|6	Hom;+C	658;0|17
N	N	-	9	107620867	107620867	C	T	snp	nonsynonymous SNV	G656A	R219K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs2230806	0.439696	0.3915	0.3299	0.15	2	13	exonic	exonic	exonic	ABCA1	ABCA1	ENSG00000165029	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCA1:NM_005502:exon7:c.G656A:p.R219K,	ABCA1:uc004bcl.3:exon7:c.G656A:p.R219K,	UNKNOWN	Het;C>T	734;37|37	Hom;C>T	1941;0|70
N	N	-	9	107840608	107840609	CA	C	indel	intergenic	 	 	 	 	AL359182.2																		rs35482214	0.489417	0	0	1	0	0	intergenic	intergenic	intergenic	ABCA1(dist=150081),SLC44A1(dist=166285)	AK311445(dist=148458),7SK(dist=18428)	ENSG00000230013(dist=86546),ENSG00000201583(dist=18428)	Na	Na	Na	Na	Na	Na	Het;-A	694;44|47	Hom;-A	1369;9|73
N	N	-	9	107940737	107940737	A	C	snp	intergenic	 	 	 	 	RN7SKP191																		rs1979021	0.724441	0	0	1	0	0	intergenic	intergenic	intergenic	ABCA1(dist=250210),SLC44A1(dist=66157)	7SK(dist=81395),SLC44A1(dist=66192)	ENSG00000201583(dist=81395),ENSG00000238208(dist=4024)	Na	Na	Na	Na	Na	Na	Het;A>C	121;5|6	Hom;A>C	64;0|3
N	N	-	9	108282855	108282855	A	G	snp	ncRNA_exonic	 	 	 	 	RALGAPA1P1																		rs7357632	0.555911	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FSD1L	FSD1L	ENSG00000229419	Na	Na	Na	Na	Na	Na	Het;A>G	486;12|18	Hom;A>G	1354;0|45
N	N	-	9	108284065	108284065	A	G	snp	ncRNA_exonic	 	 	 	 	RALGAPA1P1																		rs4742650	0.674121	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FSD1L	FSD1L	ENSG00000229419	Na	Na	Na	Na	Na	Na	Het;A>G	1129;54|52	Hom;A>G	3052;0|114
N	N	-	9	108288060	108288060	T	G	snp	ncRNA_exonic	 	 	 	 	RALGAPA1P1																		rs2518112	0.669329	0	0	1	0	0	intronic	intronic	ncRNA_exonic	FSD1L	FSD1L	ENSG00000229419	Na	Na	Na	Na	Na	Na	Het;T>G	1133;71|52	Hom;T>G	3163;0|114
N	N	-	9	10869	10869	C	G	snp	intergenic	 	 	 	 	NONE																		rs7341907	0	0	0	1	0	0	intergenic	intergenic	intergenic	NONE(dist=NONE),DDX11L5(dist=1118)	NONE(dist=NONE),DDX11L5(dist=1118)	NONE(dist=NONE),ENSG00000236875(dist=1118)	Na	Na	Na	Na	Na	Na	Het;C>G	220;8|11	Hom;C>G	133;0|5
N	N	-	9	110249505	110249505	C	T	snp	synonymous SNV	G1143A	G381G	aliphatic,neutral	aliphatic,neutral	KLF4	Klf4	ENSG00000136826	Kruppel like factor 4	chr9:110247133-110252763	This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]	Type 2 diabetes; diabetes, type 2; Electrocardiography; Myocardial Infarction	Homozygotes for targeted null mutations die shortly after birth due to a skin defect that results in loss of fluids. Mutants also show a dramatic decrease in the number of goblet cells of the colon.	Transcriptional regulation of pluripotent stem cells	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007500;mesodermal cell fate determination;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009913;epidermal cell differentiation;IEA|GO:0010033;response to organic substance;IEA|GO:0010628;positive regulation of gene expression;IGI|GO:0010629;negative regulation of gene expression;IGI|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0031077;post-embryonic camera-type eye development;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032526;response to retinoic acid;IEA|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035166;post-embryonic hemopoiesis;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045415;negative regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045444;fat cell differentiation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;IMP|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0048679;regulation of axon regeneration;IEA|GO:0048730;epidermis morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0051247;positive regulation of protein metabolic process;IGI|GO:0051898;negative regulation of protein kinase B signaling;IEA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060761;negative regulation of response to cytokine stimulus;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071409;cellular response to cycloheximide;IEA|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:1901653;cellular response to peptide;IEA|GO:1904798;positive regulation of core promoter binding;IEA|GO:1904998;negative regulation of leukocyte adhesion to arterial endothelial cell;IGI|GO:2000342;negative regulation of chemokine (C-X-C motif) ligand 2 production;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007500;mesodermal cell fate determination;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009913;epidermal cell differentiation;IEA|GO:0010033;response to organic substance;IEA|GO:0010628;positive regulation of gene expression;IGI|GO:0010629;negative regulation of gene expression;IGI|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0031077;post-embryonic camera-type eye development;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032526;response to retinoic acid;IEA|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035166;post-embryonic hemopoiesis;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045415;negative regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045444;fat cell differentiation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;IMP|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0048679;regulation of axon regeneration;IEA|GO:0048730;epidermis morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0051247;positive regulation of protein metabolic process;IGI|GO:0051898;negative regulation of protein kinase B signaling;IEA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060761;negative regulation of response to cytokine stimulus;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071409;cellular response to cycloheximide;IEA|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:1901653;cellular response to peptide;IEA|GO:1904798;positive regulation of core promoter binding;IEA|GO:1904998;negative regulation of leukocyte adhesion to arterial endothelial cell;IGI|GO:2000342;negative regulation of chemokine (C-X-C motif) ligand 2 production;IDA	GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005719;nuclear euchromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0044798;nuclear transcription factor complex;IEA	GO:0000975;regulatory region DNA binding;IEA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0001010;transcription factor activity, sequence-specific DNA binding transcription factor recruiting;IEA|GO:0001047;core promoter binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0001085;RNA polymerase II transcription factor binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IDA|GO:0001221;transcription cofactor binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0035014;phosphatidylinositol 3-kinase regulator activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KLF4	https://www.uniprot.org/uniprot/O43474		https://www.ncbi.nlm.nih.gov/omim/?term=602253	http://www.informatics.jax.org/searchtool/Search.do?query=KLF4&submit=Quick%0D%45ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF4	rs2236599	0.140176	0.1365	0.1825	1	0	0	intronic	exonic	intronic	KLF4	KLF4	ENSG00000136826	Na	synonymous SNV	Na	Na	KLF4:uc004bdh.3:exon3:c.G1143A:p.G381G,	Na	Het;C>T	2231;82|100	Hom;C>T	4473;0|164
N	N	-	9	110501437	110501437	A	G	snp	intergenic	 	 	 	 	RNU6-996P																		rs1851741	0.442692	0	0	1	0	0	intergenic	intergenic	intergenic	KLF4(dist=249390),ACTL7B(dist=1115432)	KLF4(dist=249390),5S_rRNA(dist=179710)	ENSG00000202308(dist=75910),ENSG00000214645(dist=38034)	Na	Na	Na	Na	Na	Na	Het;A>G	204;3|9	Hom;A>G	501;0|16
N	N	-	9	110801608	110801608	C	A	snp	upstream	 	 	 	 	AC068050.1																		rs10816618	0.529952	0	0	1	0	0	intergenic	intergenic	upstream	KLF4(dist=549561),ACTL7B(dist=815261)	5S_rRNA(dist=120349),ACTL7B(dist=815261)	ENSG00000213557	Na	Na	Na	Na	Na	Na	Het;C>A	111;1|5	Hom;C>A	293;0|9
N	N	-	9	111451331	111451331	T	TA	indel	intergenic	 	 	 	 	AL669983.1																		rs11395160	0	0	0	1	0	0	intergenic	intergenic	intergenic	KLF4(dist=1199284),ACTL7B(dist=165538)	5S_rRNA(dist=770072),ACTL7B(dist=165538)	ENSG00000169253(dist=61901),ENSG00000231678(dist=12319)	Na	Na	Na	Na	Na	Na	Het;+A	324;4|20	Hom;+A	243;1|14
N	N	-	9	112039936	112039936	G	A	snp	intronic	 	 	 	 	EPB41L4B	Epb41l4b	ENSG00000095203	erythrocyte membrane protein band 4.1 like 4B	chr9:111934255-112083244		Tobacco Use Disorder	 		GO:0010628;positive regulation of gene expression;IMP|GO:0031032;actomyosin structure organization;IDA|GO:0042060;wound healing;IDA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0051549;positive regulation of keratinocyte migration;IMP	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045177;apical part of cell;IDA	GO:0005200;structural constituent of cytoskeleton;TAS|GO:0008092;cytoskeletal protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L4B	https://www.uniprot.org/uniprot/Q9H329		https://www.ncbi.nlm.nih.gov/omim/?term=610340	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L4B&submit=Quick%0D%2237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L4B	rs12555138	0.124002	0	0	1	0	0	intronic	intronic	intronic	EPB41L4B	EPB41L4B	ENSG00000095203	Na	Na	Na	Na	Na	Na	Het;G>A	36;2|3	Hom;G>A	139;0|6
N	N	-	9	112170701	112170701	T	TAAAC	indel	intronic	 	 	 	 	PTPN3	Ptpn3	ENSG00000070159	protein tyrosine phosphatase, non-receptor type 3	chr9:112137746-112260590	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]	Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Albumins; Echocardiography; Neuroblastoma	Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content.	EGFR downregulation	GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0097421;liver regeneration;IEA|GO:0098902;regulation of membrane depolarization during action potential;IDA|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0001784;phosphotyrosine binding;IPI|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017080;sodium channel regulator activity;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPN3	https://www.uniprot.org/uniprot/P26045	https://hpo.jax.org/app/browse/search?q=PTPN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176877	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN3&submit=Quick%0D%1344ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN3	rs35463120	0.868211	0	0.8237	1	0	0	intronic	intronic	intronic	PTPN3	PTPN3	ENSG00000070159	Na	Na	Na	Na	Na	Na	Het;+AAAC	923;19|25	Hom;+AAAC	1891;0|44
N	N	-	9	112172477	112172477	T	G	snp	intronic	 	 	 	 	PTPN3	Ptpn3	ENSG00000070159	protein tyrosine phosphatase, non-receptor type 3	chr9:112137746-112260590	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]	Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Albumins; Echocardiography; Neuroblastoma	Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content.	EGFR downregulation	GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0097421;liver regeneration;IEA|GO:0098902;regulation of membrane depolarization during action potential;IDA|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA	GO:0001784;phosphotyrosine binding;IPI|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017080;sodium channel regulator activity;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTPN3	https://www.uniprot.org/uniprot/P26045	https://hpo.jax.org/app/browse/search?q=PTPN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176877	http://www.informatics.jax.org/searchtool/Search.do?query=PTPN3&submit=Quick%0D%1344ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN3	rs2275699	0	0.8618	0.8512	1	0	0	intronic	intronic	intronic	PTPN3	PTPN3	ENSG00000070159	Na	Na	Na	Na	Na	Na	Het;T>G	933;25|39	Hom;T>G	1765;0|57
N	N	-	9	112918531	112918531	A	G	snp	intronic	 	 	 	 	AKAP2	Akap2	ENSG00000241978	A-kinase anchoring protein 2	chr9:112542769-112934792	The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]	Carcinoma, Squamous Cell|Esophageal Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Body Height; height	 					http://www.genecards.org/index.php?path=/Search/keyword/AKAP2			https://www.ncbi.nlm.nih.gov/omim/?term=604582	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP2&submit=Quick%0D%19702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP2	rs10759392	0.735024	0	0	1	0	0	intronic	intronic	intronic	AKAP2,PALM2-AKAP2	AKAP2,PALM2-AKAP2	ENSG00000157654,ENSG00000241978	Na	Na	Na	Na	Na	Na	Het;A>G	114;13|7	Hom;A>G	333;0|11
N	N	-	9	113547322	113547322	T	C	snp	intronic	 	 	 	 	MUSK	Musk	ENSG00000030304	muscle associated receptor tyrosine kinase	chr9:113431051-113563859	This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]	Triglycerides; Breath Tests; Cholesterol, LDL; Myocardial Infarction; Chronic renal failure|Kidney Failure, Chronic	Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure.	ECM proteoglycans	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0007528;neuromuscular junction development;IDA|GO:0007613;memory;ISS|GO:0008582;regulation of synaptic growth at neuromuscular junction;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0046777;protein autophosphorylation;ISS|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;ISS|GO:2000541;positive regulation of protein geranylgeranylation;ISS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031594;neuromuscular junction;ISS|GO:0043235;receptor complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MUSK	https://www.uniprot.org/uniprot/O15146	https://hpo.jax.org/app/browse/search?q=MUSK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601296	http://www.informatics.jax.org/searchtool/Search.do?query=MUSK&submit=Quick%0D%738ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUSK	rs484010	0.970048	0.9418	0.9449	1	0	0	intronic	intronic	intronic	MUSK	MUSK	ENSG00000030304	Na	Na	Na	Na	Na	Na	Het;T>C	1221;34|56	Hom;T>C	2844;0|108
N	N	-	9	114348193	114348193	C	T	snp	intronic	 	 	 	 	PTGR1	Ptgr1	ENSG00000106853	prostaglandin reductase 1	chr9:114312002-114362135	This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]	Body Height; Type 2 Diabetes| edema | rosiglitazone	 	Synthesis of Lipoxins (LX)	GO:0006691;leukotriene metabolic process;NAS|GO:0006693;prostaglandin metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097327;response to antineoplastic agent;IEA	GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0032440;2-alkenal reductase [NAD(P)] activity;IEA|GO:0036132;13-prostaglandin reductase activity;IEA|GO:0047522;15-oxoprostaglandin 13-oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTGR1	https://www.uniprot.org/uniprot/Q14914		https://www.ncbi.nlm.nih.gov/omim/?term=601274	http://www.informatics.jax.org/searchtool/Search.do?query=PTGR1&submit=Quick%0D%3560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGR1	rs3818295	0.0964457	0	0	1	0	0	intronic	intronic	intronic	PTGR1	PTGR1	ENSG00000106853	Na	Na	Na	Na	Na	Na	Het;C>T	147;1|6	Hom;C>T	177;0|7
N	N	-	9	114356659	114356659	C	T	snp	ncRNA_intronic	 	 	 	 	LRRC37A5P																		rs3739703	0.580471	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PTGR1	PTGR1	ENSG00000204173	Na	Na	Na	Na	Na	Na	Het;C>T	116;2|6	Hom;C>T	438;0|16
N	N	-	9	114359624	114359624	C	A	snp	nonsynonymous SNV	G79T	A27S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PTGR1	Ptgr1	ENSG00000106853	prostaglandin reductase 1	chr9:114312002-114362135	This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]	Body Height; Type 2 Diabetes| edema | rosiglitazone	 	Synthesis of Lipoxins (LX)	GO:0006691;leukotriene metabolic process;NAS|GO:0006693;prostaglandin metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097327;response to antineoplastic agent;IEA	GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0032440;2-alkenal reductase [NAD(P)] activity;IEA|GO:0036132;13-prostaglandin reductase activity;IEA|GO:0047522;15-oxoprostaglandin 13-oxidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTGR1	https://www.uniprot.org/uniprot/Q14914		https://www.ncbi.nlm.nih.gov/omim/?term=601274	http://www.informatics.jax.org/searchtool/Search.do?query=PTGR1&submit=Quick%0D%3560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGR1	rs1053959	0.597843	0.5877	0.6010	0.08	1	13	exonic	exonic	exonic	PTGR1	PTGR1	ENSG00000106853	nonsynonymous SNV	nonsynonymous SNV	unknown	PTGR1:NM_001146109:exon2:c.G79T:p.A27S,PTGR1:NM_001146108:exon2:c.G79T:p.A27S,PTGR1:NM_012212:exon2:c.G79T:p.A27S,	PTGR1:uc004bfh.2:exon2:c.G79T:p.A27S,PTGR1:uc011lwr.2:exon2:c.G79T:p.A27S,PTGR1:uc010mue.3:exon2:c.G79T:p.A27S,PTGR1:uc004bfi.3:exon2:c.G79T:p.A27S,	UNKNOWN	Het;C>A	893;62|50	Hom;C>A	2552;0|92
N	N	-	9	114370555	114370555	G	T	snp	ncRNA_intronic	 	 	 	 	LRRC37A5P																		rs4246887	0.513978	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LRRC37A5P	LRRC37A5P	ENSG00000204173	Na	Na	Na	Na	Na	Na	Het;G>T	111;20|8	Hom;G>T	966;0|34
N	N	-	9	114371322	114371322	T	A	snp	ncRNA_exonic	 	 	 	 	LRRC37A5P																		rs4978450	0.36881	0	0.3303	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LRRC37A5P	LRRC37A5P	ENSG00000204173	Na	Na	Na	Na	Na	Na	Het;T>A	1175;84|58	Hom;T>A	3706;0|138
N	N	-	9	114371493	114371493	C	T	snp	ncRNA_exonic	 	 	 	 	LRRC37A5P																		rs12351897	0.368411	0	0.3279	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LRRC37A5P	LRRC37A5P	ENSG00000204173	Na	Na	Na	Na	Na	Na	Het;C>T	1975;71|95	Hom;C>T	4659;0|172
N	N	-	9	114371590	114371590	G	A	snp	ncRNA_exonic	 	 	 	 	LRRC37A5P																		rs12351987	0.36881	0	0.3273	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LRRC37A5P	LRRC37A5P	ENSG00000204173	Na	Na	Na	Na	Na	Na	Het;G>A	1640;77|77	Hom;G>A	3917;1|143
N	N	-	9	114371624	114371624	A	C	snp	ncRNA_exonic	 	 	 	 	LRRC37A5P																		rs12342716	0.36881	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_exonic	LRRC37A5P	LRRC37A5P	ENSG00000204173	Na	Na	Na	Na	Na	Na	Het;A>C	1288;66|57	Hom;A>C	3658;2|126
N	N	-	9	114467450	114467450	T	C	snp	intronic	 	 	 	 	C9orf84	AI481877	ENSG00000165181	chromosome 9 open reading frame 84	chr9:114448453-114557288		Body Weights and Measures; Breath Tests; Body Weight; Aorta	Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5. Male mice homozygous for a hypomorphic allele exhibit a lack of spermatozoa, reduced testis weight and size, increased male germ cell apoptosis, and abnormal male meiosis with defective chiasmata formation and chromosomal synapsis.					http://www.genecards.org/index.php?path=/Search/keyword/C9orf84				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf84&submit=Quick%0D%11485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf84	rs2181148	0.619808	0	0	1	0	0	intronic	intronic	intronic	C9orf84	C9orf84	ENSG00000165181	Na	Na	Na	Na	Na	Na	Het;T>C	71;9|3	Hom;T>C	501;0|13
N	N	-	9	114480602	114480602	C	A	snp	intronic	 	 	 	 	C9orf84	AI481877	ENSG00000165181	chromosome 9 open reading frame 84	chr9:114448453-114557288		Body Weights and Measures; Breath Tests; Body Weight; Aorta	Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5. Male mice homozygous for a hypomorphic allele exhibit a lack of spermatozoa, reduced testis weight and size, increased male germ cell apoptosis, and abnormal male meiosis with defective chiasmata formation and chromosomal synapsis.					http://www.genecards.org/index.php?path=/Search/keyword/C9orf84				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf84&submit=Quick%0D%11485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf84	rs2418174	0.608626	0.5062	0.5935	1	0	0	intronic	intronic	intronic	C9orf84	C9orf84	ENSG00000165181	Na	Na	Na	Na	Na	Na	Het;C>A	367;20|18	Hom;C>A	1114;0|41
N	N	-	9	114489887	114489887	C	T	snp	intronic	 	 	 	 	C9orf84	AI481877	ENSG00000165181	chromosome 9 open reading frame 84	chr9:114448453-114557288		Body Weights and Measures; Breath Tests; Body Weight; Aorta	Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5. Male mice homozygous for a hypomorphic allele exhibit a lack of spermatozoa, reduced testis weight and size, increased male germ cell apoptosis, and abnormal male meiosis with defective chiasmata formation and chromosomal synapsis.					http://www.genecards.org/index.php?path=/Search/keyword/C9orf84				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf84&submit=Quick%0D%11485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf84	rs953536	0.608826	0.5066	0.5947	1	0	0	intronic	intronic	intronic	C9orf84	C9orf84	ENSG00000165181	Na	Na	Na	Na	Na	Na	Het;C>T	429;15|18	Hom;C>T	1072;0|36
N	N	-	9	114548451	114548451	G	A	snp	intronic	 	 	 	 	C9orf84	AI481877	ENSG00000165181	chromosome 9 open reading frame 84	chr9:114448453-114557288		Body Weights and Measures; Breath Tests; Body Weight; Aorta	Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5. Male mice homozygous for a hypomorphic allele exhibit a lack of spermatozoa, reduced testis weight and size, increased male germ cell apoptosis, and abnormal male meiosis with defective chiasmata formation and chromosomal synapsis.					http://www.genecards.org/index.php?path=/Search/keyword/C9orf84				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf84&submit=Quick%0D%11485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf84	rs315711	0.623003	0	0	1	0	0	intergenic	intronic	intronic	C9orf84(dist=2672),NONE(dist=NONE)	C9orf84	ENSG00000165181	Na	Na	Na	Na	Na	Na	Het;G>A	140;4|5	Hom;G>A	204;0|6
N	N	-	9	115702989	115702989	A	G	snp	intergenic	 	 	 	 	SLC46A2	Slc46a2	ENSG00000119457	solute carrier family 46 member 2	chr9:115641200-115653193		Hip	About one-third of homozygotes carrying a reporter allele that results in a small deletion within exon 1 display a slight reduction in total thymocyte yield at 6 weeks of age.		GO:0006810;transport;IEA|GO:0043029;T cell homeostasis;IEA|GO:0045580;regulation of T cell differentiation;IEA|GO:0048538;thymus development;IEA|GO:0055085;transmembrane transport;IEA|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015293;symporter activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC46A2	https://www.uniprot.org/uniprot/Q9BY10		https://www.ncbi.nlm.nih.gov/omim/?term=608956	http://www.informatics.jax.org/searchtool/Search.do?query=SLC46A2&submit=Quick%0D%5065ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC46A2	rs10817412	0.100439	0	0	1	0	0	intergenic	intergenic	intergenic	SLC46A2(dist=49796),ZNF883(dist=56411)	SLC46A2(dist=49796),ZNF883(dist=56411)	ENSG00000119457(dist=49796),ENSG00000237906(dist=18425)	Na	Na	Na	Na	Na	Na	Het;A>G	762;57|42	Hom;A>G	1653;0|61
N	N	-	9	115934022	115934022	A	AACCTGGATT	indel	intronic	 	 	 	 	FKBP15	Fkbp15	ENSG00000119321	FK506 binding protein 15	chr9:115923286-115983641			 		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0010923;negative regulation of phosphatase activity;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005884;actin filament;IEA|GO:0016020;membrane;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FKBP15	https://www.uniprot.org/uniprot/Q5T1M5		https://www.ncbi.nlm.nih.gov/omim/?term=617398	http://www.informatics.jax.org/searchtool/Search.do?query=FKBP15&submit=Quick%0D%5047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP15	rs5900041	0.838059	0.7987	0.8036	1	0	0	intronic	intronic	intronic	FKBP15	FKBP15	ENSG00000119321	Na	Na	Na	Na	Na	Na	Het;+ACCTGGATT	490;31|17	Hom;+ACCTGGATT	1935;0|45
N	N	-	9	115950706	115950706	A	C	snp	nonsynonymous SNV	T1239G	H413Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FKBP15	Fkbp15	ENSG00000119321	FK506 binding protein 15	chr9:115923286-115983641			 		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0010923;negative regulation of phosphatase activity;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005884;actin filament;IEA|GO:0016020;membrane;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FKBP15	https://www.uniprot.org/uniprot/Q5T1M5		https://www.ncbi.nlm.nih.gov/omim/?term=617398	http://www.informatics.jax.org/searchtool/Search.do?query=FKBP15&submit=Quick%0D%5047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP15	rs10435864	0.526957	0.5542	0.5643	0.17	2	12	exonic	exonic	exonic	FKBP15	FKBP15	ENSG00000119321	nonsynonymous SNV	nonsynonymous SNV	unknown	FKBP15:NM_015258:exon13:c.T1239G:p.H413Q,	FKBP15:uc004bgs.2:exon13:c.T1239G:p.H413Q,FKBP15:uc004bgt.2:exon13:c.T1239G:p.H413Q,FKBP15:uc011lxd.1:exon12:c.T1035G:p.H345Q,FKBP15:uc010muu.1:exon17:c.T1431G:p.H477Q,FKBP15:uc010mut.1:exon12:c.T843G:p.H281Q,	UNKNOWN	Het;A>C	1130;52|51	Hom;A>C	3175;2|116
N	N	-	9	115969433	115969433	T	TAGA	indel	intronic	 	 	 	 	FKBP15	Fkbp15	ENSG00000119321	FK506 binding protein 15	chr9:115923286-115983641			 		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0010923;negative regulation of phosphatase activity;IDA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005884;actin filament;IEA|GO:0016020;membrane;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FKBP15	https://www.uniprot.org/uniprot/Q5T1M5		https://www.ncbi.nlm.nih.gov/omim/?term=617398	http://www.informatics.jax.org/searchtool/Search.do?query=FKBP15&submit=Quick%0D%5047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP15	rs5900043	0.613419	0.7073	0	1	0	0	intronic	intronic	intronic	FKBP15	FKBP15	ENSG00000119321	Na	Na	Na	Na	Na	Na	Het;+AGA	750;36|21	Hom;+AGA	2302;0|49
N	N	-	9	116153891	116153891	C	G	snp	nonsynonymous SNV	G177C	K59N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ALAD	Alad	ENSG00000148218	aminolevulinate dehydratase	chr9:116148597-116163613	The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	hypertension; lead and mercury metabolism; lead blood levels; zinc; brain cancer; kidney function; Hemoglobin A, Glycosylated; Lead Poisoning; normal variation; Amyotrophic Lateral Sclerosis; hematopoietic outcomes, lead exposure related; lead; renal function; uricemia; lung cancer ; low-level lead exposure; lung cancer; cytogenetic studies; bladder cancer; Kidney Diseases|Lead Poisoning, Nervous System, Adult; lead toxicity; Chronic renal failure|Kidney Failure, Chronic; Lead Poisoning, Nervous System, Adult; chronic obstructive pulmonary disease; Basophils; Amyotrophic Lateral Sclerosis|Bone Resorption|Lead Poisoning; DNA Damage|; creatinine kidney function lead toxicity; essential tremor; alcoholism; ALS/amyotrophic lateral sclerosis; null; lead nephrotoxicity	 	Neutrophil degranulation	GO:0001666;response to hypoxia;IEA|GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009635;response to herbicide;IEA|GO:0009636;response to toxic substance;IEA|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010035;response to inorganic substance;IEA|GO:0010038;response to metal ion;IEA|GO:0010039;response to iron ion;IEA|GO:0010043;response to zinc ion;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010266;response to vitamin B1;IEA|GO:0010269;response to selenium ion;IEA|GO:0010288;response to lead ion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032025;response to cobalt ion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0033197;response to vitamin E;IEA|GO:0033273;response to vitamin;IEA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046689;response to mercury ion;IEA|GO:0051260;protein homooligomerization;IPI|GO:0051384;response to glucocorticoid;IEA|GO:0051597;response to methylmercury;IEA|GO:0070541;response to platinum ion;IEA|GO:0070542;response to fatty acid;IEA|GO:0071284;cellular response to lead ion;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:1901799;negative regulation of proteasomal protein catabolic process;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003824;catalytic activity;TAS|GO:0004655;porphobilinogen synthase activity;TAS|GO:0008270;zinc ion binding;IDA|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALAD	https://www.uniprot.org/uniprot/P13716	https://hpo.jax.org/app/browse/search?q=ALAD&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125270	http://www.informatics.jax.org/searchtool/Search.do?query=ALAD&submit=Quick%0D%9086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALAD	rs1800435	0.0634984	0.0602	0.0827	0.15	2	13	exonic	exonic	exonic	ALAD	ALAD	ENSG00000148218	nonsynonymous SNV	nonsynonymous SNV	unknown	ALAD:NM_000031:exon4:c.G177C:p.K59N,	ALAD:uc011lxe.2:exon3:c.G126C:p.K42N,ALAD:uc011lxf.2:exon4:c.G177C:p.K59N,ALAD:uc004bhl.4:exon4:c.G264C:p.K88N,	UNKNOWN	Het;C>G	648;39|33	Hom;C>G	1966;0|73
N	N	-	9	116169732	116169733	TA	T	indel	UTR3	*1359_*1358delinsA	 	 	 	POLE3	Pole3	ENSG00000148229	DNA polymerase epsilon 3, accessory subunit	chr9:116169515-116172952	POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]		 	Activation of the pre-replicative complex	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0008622;epsilon DNA polymerase complex;IDA	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLE3	https://www.uniprot.org/uniprot/Q9NRF9		https://www.ncbi.nlm.nih.gov/omim/?term=607267	http://www.informatics.jax.org/searchtool/Search.do?query=POLE3&submit=Quick%0D%9089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE3	rs36080340	0.0423323	0	0	1	0	0	UTR3	UTR3	UTR3	POLE3(NM_017443:c.*1359_*1358delinsA,NM_001278255:c.*1359_*1358delinsA)	POLE3(uc011lxg.1:c.*1359_*1358delinsA,uc004bhn.2:c.*1359_*1358delinsA,uc031tet.1:c.*1359_*1358delinsA)	ENSG00000148229(ENST00000374171:c.*1359_*1358delinsA,ENST00000374169:c.*1359_*1358delinsA)	Na	Na	Na	Na	Na	Na	Het;-A	1008;32|35	Hom;-A	2567;0|74
N	N	-	9	116170559	116170559	G	A	snp	UTR3	*532C>T	 	 	 	POLE3	Pole3	ENSG00000148229	DNA polymerase epsilon 3, accessory subunit	chr9:116169515-116172952	POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]		 	Activation of the pre-replicative complex	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0008622;epsilon DNA polymerase complex;IDA	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLE3	https://www.uniprot.org/uniprot/Q9NRF9		https://www.ncbi.nlm.nih.gov/omim/?term=607267	http://www.informatics.jax.org/searchtool/Search.do?query=POLE3&submit=Quick%0D%9089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE3	rs14419	0.29373	0	0	1	0	0	UTR3	UTR3	UTR3	POLE3(NM_017443:c.*532C>T,NM_001278255:c.*532C>T)	POLE3(uc011lxg.1:c.*532C>T,uc004bhn.2:c.*532C>T,uc031tet.1:c.*532C>T)	ENSG00000148229(ENST00000374171:c.*532C>T,ENST00000374169:c.*532C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1277;71|54	Hom;G>A	3393;0|120
N	N	-	9	116171275	116171275	G	A	snp	intronic	 	 	 	 	POLE3	Pole3	ENSG00000148229	DNA polymerase epsilon 3, accessory subunit	chr9:116169515-116172952	POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]		 	Activation of the pre-replicative complex	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0008622;epsilon DNA polymerase complex;IDA	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLE3	https://www.uniprot.org/uniprot/Q9NRF9		https://www.ncbi.nlm.nih.gov/omim/?term=607267	http://www.informatics.jax.org/searchtool/Search.do?query=POLE3&submit=Quick%0D%9089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE3	rs3827674	0.0425319	0.0447	0.0537	1	0	0	intronic	intronic	intronic	POLE3	POLE3	ENSG00000148229	Na	Na	Na	Na	Na	Na	Het;G>A	626;26|26	Hom;G>A	1155;0|41
N	N	-	9	116171323	116171323	G	A	snp	intronic	 	 	 	 	POLE3	Pole3	ENSG00000148229	DNA polymerase epsilon 3, accessory subunit	chr9:116169515-116172952	POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]		 	Activation of the pre-replicative complex	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0008622;epsilon DNA polymerase complex;IDA	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLE3	https://www.uniprot.org/uniprot/Q9NRF9		https://www.ncbi.nlm.nih.gov/omim/?term=607267	http://www.informatics.jax.org/searchtool/Search.do?query=POLE3&submit=Quick%0D%9089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE3	rs34106027	0.0425319	0	0	1	0	0	intronic	intronic	intronic	POLE3	POLE3	ENSG00000148229	Na	Na	Na	Na	Na	Na	Het;G>A	308;13|14	Hom;G>A	446;0|15
N	N	-	9	116172667	116172667	T	C	snp	UTR5	-94A>G	 	 	 	POLE3	Pole3	ENSG00000148229	DNA polymerase epsilon 3, accessory subunit	chr9:116169515-116172952	POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]		 	Activation of the pre-replicative complex	GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0008622;epsilon DNA polymerase complex;IDA	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLE3	https://www.uniprot.org/uniprot/Q9NRF9		https://www.ncbi.nlm.nih.gov/omim/?term=607267	http://www.informatics.jax.org/searchtool/Search.do?query=POLE3&submit=Quick%0D%9089ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE3	rs17525042	0.0397364	0	0	1	0	0	UTR5	UTR5	UTR5	POLE3(NM_017443:c.-94A>G)	POLE3(uc011lxg.1:c.-94A>G,uc004bhn.2:c.-94A>G)	ENSG00000148229(ENST00000374171:c.-94A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1472;75|63	Hom;T>C	4207;0|150
N	N	-	9	116173019	116173019	A	G	snp	UTR5	-2755A>G	 	 	 	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs3810924	0.0473243	0	0	1	0	0	UTR5	UTR5	UTR5	C9orf43(NM_001278629:c.-2755A>G,NM_152786:c.-2755A>G,NM_001278630:c.-180A>G),POLE3(NM_017443:c.-446T>C,NM_001278255:c.-446T>C)	C9orf43(uc004bho.4:c.-2755A>G),POLE3(uc004bhn.2:c.-446T>C,uc031tet.1:c.-446T>C)	ENSG00000157653(ENST00000374165:c.-2755A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	508;11|20	Hom;A>G	992;0|28
N	N	-	9	116183301	116183301	G	A	snp	intronic	 	 	 	 	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs818714	0.309105	0	0	1	0	0	intronic	intronic	intronic	C9orf43	C9orf43	ENSG00000157653	Na	Na	Na	Na	Na	Na	Het;G>A	372;1|13	Hom;G>A	291;0|10
N	N	-	9	116183509	116183509	G	C	snp	intronic	 	 	 	 	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs41276809	0.0411342	0.0432	0.0534	1	0	0	intronic	intronic	intronic	C9orf43	C9orf43	ENSG00000157653	Na	Na	Na	Na	Na	Na	Het;G>C	1055;44|52	Hom;G>C	2188;0|84
N	N	-	9	116185569	116185569	A	G	snp	intronic	 	 	 	 	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs41312200	0.0367412	0.0427	0.0554	1	0	0	intronic	intronic	intronic	C9orf43	C9orf43	ENSG00000157653	Na	Na	Na	Na	Na	Na	Het;A>G	147;31|8	Hom;A>G	1277;0|40
N	N	-	9	116187302	116187302	C	G	snp	nonsynonymous SNV	C811G	P271A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs111748634	0.0401358	0.0421	0.0539	0.62	8	13	exonic	exonic	exonic	C9orf43	C9orf43	ENSG00000157653	nonsynonymous SNV	nonsynonymous SNV	unknown	C9orf43:NM_001278629:exon9:c.C811G:p.P271A,C9orf43:NM_001278630:exon9:c.C865G:p.P289A,C9orf43:NM_152786:exon9:c.C811G:p.P271A,	C9orf43:uc004bho.4:exon9:c.C811G:p.P271A,C9orf43:uc004bhp.3:exon9:c.C811G:p.P271A,	UNKNOWN	Het;C>G	47;17|5	Hom;C>G	509;0|21
N	N	-	9	116187810	116187810	A	T	snp	intronic	 	 	 	 	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs111500435	0.0413339	0	0	1	0	0	intronic	intronic	intronic	C9orf43	C9orf43	ENSG00000157653	Na	Na	Na	Na	Na	Na	Het;A>T	538;12|24	Hom;A>T	826;0|28
N	N	-	9	116191205	116191205	A	C	snp	nonsynonymous SNV	A1133C	N378T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs111841972	0.0395367	0.0423	0.0536	0.00	0	13	exonic	exonic	exonic	C9orf43	C9orf43	ENSG00000157653	nonsynonymous SNV	nonsynonymous SNV	unknown	C9orf43:NM_001278629:exon13:c.A1133C:p.N378T,C9orf43:NM_001278630:exon13:c.A1187C:p.N396T,C9orf43:NM_152786:exon13:c.A1133C:p.N378T,	C9orf43:uc004bho.4:exon13:c.A1133C:p.N378T,C9orf43:uc004bhp.3:exon13:c.A1133C:p.N378T,	UNKNOWN	Het;A>C	247;30|14	Hom;A>C	728;0|28
N	N	-	9	116191833	116191833	A	G	snp	UTR3	*167A>G	 	 	 	C9orf43	4933430I17Rik	ENSG00000157653	chromosome 9 open reading frame 43	chr9:116172334-116191964		Cleft Lip|Cleft Palate	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf43				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43	rs113193344	0.0397364	0	0	1	0	0	UTR3	UTR3	UTR3	C9orf43(NM_001278629:c.*167A>G,NM_152786:c.*167A>G,NM_001278630:c.*167A>G)	C9orf43(uc004bho.4:c.*167A>G,uc004bhp.3:c.*167A>G)	ENSG00000157653(ENST00000374165:c.*167A>G,ENST00000288462:c.*167A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	36;3|2	Hom;A>G	131;0|4
N	N	-	9	116223943	116223943	C	T	snp	intronic	 	 	 	 	RGS3	Rgs3	ENSG00000138835	regulator of G protein signaling 3	chr9:116207011-116360018	This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]	Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure	Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation.	G alpha (q) signalling events	GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS3	https://www.uniprot.org/uniprot/P49796		https://www.ncbi.nlm.nih.gov/omim/?term=602189	http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3	rs112723896	0.0407348	0.0432	0.0536	1	0	0	intronic	intronic	intronic	RGS3	RGS3	ENSG00000138835	Na	Na	Na	Na	Na	Na	Het;C>T	535;17|22	Hom;C>T	1624;1|58
N	N	-	9	116224171	116224172	CT	C	indel	intronic	 	 	 	 	RGS3	Rgs3	ENSG00000138835	regulator of G protein signaling 3	chr9:116207011-116360018	This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]	Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure	Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation.	G alpha (q) signalling events	GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS3	https://www.uniprot.org/uniprot/P49796		https://www.ncbi.nlm.nih.gov/omim/?term=602189	http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3	rs143610280	0.123403	0.1714	0.1434	1	0	0	intronic	intronic	intronic	RGS3	RGS3	ENSG00000138835	Na	Na	Na	Na	Na	Na	Het;-T	702;8|28	Hom;-T	1689;0|54
N	N	-	9	116226317	116226317	G	A	snp	intronic	 	 	 	 	RGS3	Rgs3	ENSG00000138835	regulator of G protein signaling 3	chr9:116207011-116360018	This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]	Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure	Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation.	G alpha (q) signalling events	GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS3	https://www.uniprot.org/uniprot/P49796		https://www.ncbi.nlm.nih.gov/omim/?term=602189	http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3	rs113163961	0.0411342	0	0	1	0	0	intronic	intronic	intronic	RGS3	RGS3	ENSG00000138835	Na	Na	Na	Na	Na	Na	Het;G>A	135;4|5	Hom;G>A	127;0|4
N	N	-	9	116269454	116269454	T	C	snp	intronic	 	 	 	 	RGS3	Rgs3	ENSG00000138835	regulator of G protein signaling 3	chr9:116207011-116360018	This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]	Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure	Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation.	G alpha (q) signalling events	GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS3	https://www.uniprot.org/uniprot/P49796		https://www.ncbi.nlm.nih.gov/omim/?term=602189	http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3	rs7870142	0.133786	0	0	1	0	0	intronic	intronic	intronic	RGS3	RGS3	ENSG00000138835	Na	Na	Na	Na	Na	Na	Het;T>C	59;8|3	Hom;T>C	304;0|10
N	N	-	9	116276984	116276984	A	T	snp	intronic	 	 	 	 	RGS3	Rgs3	ENSG00000138835	regulator of G protein signaling 3	chr9:116207011-116360018	This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]	Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure	Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation.	G alpha (q) signalling events	GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS3	https://www.uniprot.org/uniprot/P49796		https://www.ncbi.nlm.nih.gov/omim/?term=602189	http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3	rs3761819	0.0359425	0.0409	0.0515	1	0	0	intronic	intronic	intronic	RGS3	RGS3	ENSG00000138835	Na	Na	Na	Na	Na	Na	Het;A>T	132;16|7	Hom;A>T	362;0|11
N	N	-	9	116346780	116346783	TGAG	T	indel	ncRNA_intronic	 	 	 	 	AL162727.2																		rs201381238	0.0395367	0	0	1	0	0	intronic	intronic	ncRNA_intronic	RGS3	RGS3	ENSG00000237073	Na	Na	Na	Na	Na	Na	Het;-GAG	503;16|14	Hom;-GAG	818;0|19
N	N	-	9	116359270	116359270	G	A	snp	UTR3	*37G>A	 	 	 	RGS3	Rgs3	ENSG00000138835	regulator of G protein signaling 3	chr9:116207011-116360018	This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]	Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure	Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation.	G alpha (q) signalling events	GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RGS3	https://www.uniprot.org/uniprot/P49796		https://www.ncbi.nlm.nih.gov/omim/?term=602189	http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3	rs41276823	0.0365415	0.0385	0.0484	1	0	0	UTR3	UTR3	UTR3	RGS3(NM_144488:c.*37G>A,NM_001282923:c.*37G>A,NM_001276261:c.*37G>A,NM_130795:c.*37G>A,NM_001276260:c.*37G>A,NM_134427:c.*37G>A,NM_001282922:c.*37G>A,NM_144489:c.*37G>A,NM_001276262:c.*37G>A)	RGS3(uc004bhq.4:c.*37G>A,uc004bhs.4:c.*37G>A,uc004bht.4:c.*37G>A,uc010muy.4:c.*37G>A,uc004bhv.4:c.*37G>A,uc004bhw.4:c.*37G>A,uc011lxh.3:c.*37G>A,uc031teu.1:c.*37G>A,uc004bhz.4:c.*37G>A,uc004bia.4:c.*37G>A,uc031tev.1:c.*37G>A)	ENSG00000138835(ENST00000374140:c.*37G>A,ENST00000350696:c.*37G>A,ENST00000343817:c.*37G>A,ENST00000394646:c.*37G>A,ENST00000462143:c.*37G>A,ENST00000342620:c.*37G>A,ENST00000374134:c.*37G>A,ENST00000462403:c.*37G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	719;29|29	Hom;G>A	1741;0|57
N	N	-	9	116778269	116778269	A	G	snp	intronic	 	 	 	 	ZNF618	Zfp618	ENSG00000157657	zinc finger protein 618	chr9:116638562-116818871		hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF618			https://www.ncbi.nlm.nih.gov/omim/?term=617077	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618	rs4979324	0.545927	0	0	1	0	0	intronic	intronic	intronic	ZNF618	ZNF618	ENSG00000157657	Na	Na	Na	Na	Na	Na	Het;A>G	139;6|5	Hom;A>G	89;0|3
N	N	-	9	117013776	117013776	T	C	snp	intronic	 	 	 	 	COL27A1	Col27a1	ENSG00000196739	collagen type XXVII alpha 1 chain	chr9:116917840-117074791	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]	Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides	Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.	Collagen chain trimerization	GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL27A1		https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608461	http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1	rs4978575	0.400359	0	0	1	0	0	intronic	intronic	intronic	COL27A1	COL27A1	ENSG00000196739	Na	Na	Na	Na	Na	Na	Het;T>C	92;4|7	Hom;T>C	106;0|4
N	N	-	9	117026581	117026581	C	G	snp	intronic	 	 	 	 	COL27A1	Col27a1	ENSG00000196739	collagen type XXVII alpha 1 chain	chr9:116917840-117074791	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]	Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides	Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.	Collagen chain trimerization	GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL27A1		https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608461	http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1	rs4978576	0.785144	0.8182	0	1	0	0	intronic	intronic	intronic	COL27A1	COL27A1	ENSG00000196739	Na	Na	Na	Na	Na	Na	Het;C>G	166;8|8	Hom;C>G	367;0|13
N	N	-	9	117033096	117033096	C	T	snp	intronic	 	 	 	 	COL27A1	Col27a1	ENSG00000196739	collagen type XXVII alpha 1 chain	chr9:116917840-117074791	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]	Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides	Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.	Collagen chain trimerization	GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL27A1		https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608461	http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1	rs2636866	0.788538	0.8352	0.7805	1	0	0	intronic	intronic	intronic	COL27A1	COL27A1	ENSG00000196739	Na	Na	Na	Na	Na	Na	Het;C>T	424;20|21	Hom;C>T	903;0|34
N	N	-	9	117050998	117050998	G	A	snp	nonsynonymous SNV	G4061A	R1354Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	COL27A1	Col27a1	ENSG00000196739	collagen type XXVII alpha 1 chain	chr9:116917840-117074791	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]	Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides	Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.	Collagen chain trimerization	GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL27A1		https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608461	http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1	rs10982134	0.423722	0.3005	0.3927	0.25	3	12	exonic	exonic	exonic	COL27A1	COL27A1	ENSG00000196739	nonsynonymous SNV	nonsynonymous SNV	unknown	COL27A1:NM_032888:exon43:c.G4061A:p.R1354Q,	COL27A1:uc011lxl.2:exon43:c.G4061A:p.R1354Q,	UNKNOWN	Het;G>A	821;26|38	Hom;G>A	1386;0|54
N	N	-	9	117051586	117051586	C	G	snp	intronic	 	 	 	 	COL27A1	Col27a1	ENSG00000196739	collagen type XXVII alpha 1 chain	chr9:116917840-117074791	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]	Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides	Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.	Collagen chain trimerization	GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL27A1		https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608461	http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1	rs72762675	0.466054	0.3068	0.4611	1	0	0	intronic	intronic	intronic	COL27A1	COL27A1	ENSG00000196739	Na	Na	Na	Na	Na	Na	Het;C>G	694;53|39	Hom;C>G	1873;0|74
N	N	-	9	117061656	117061656	T	C	snp	intronic	 	 	 	 	COL27A1	Col27a1	ENSG00000196739	collagen type XXVII alpha 1 chain	chr9:116917840-117074791	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]	Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides	Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.	Collagen chain trimerization	GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL27A1		https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608461	http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1	rs1687400	0.727835	0	0	1	0	0	intronic	intronic	intronic	COL27A1	COL27A1	ENSG00000196739	Na	Na	Na	Na	Na	Na	Het;T>C	87;1|4	Hom;T>C	111;0|5
N	N	-	9	117093029	117093029	C	T	snp	intronic	 	 	 	 	ORM2		ENSG00000228278	orosomucoid 2	chr9:117092149-117095532	This gene encodes a key acute phase plasma protein.  Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant.  The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]	Leukemia, Myelogenous, Chronic, BCR-ABL Positive; warfarin response; warfarin sensitivity		Neutrophil degranulation	GO:0002576;platelet degranulation;TAS|GO:0002682;regulation of immune system process;IEA|GO:0006810;transport;IEA|GO:0006953;acute-phase response;TAS|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ORM2			https://www.ncbi.nlm.nih.gov/omim/?term=138610	http://www.informatics.jax.org/searchtool/Search.do?query=ORM2&submit=Quick%0D%18821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORM2	rs17230081	0.175519	0.1650	0.1882	1	0	0	intronic	intronic	intronic	ORM2	ORM1,ORM2	ENSG00000228278	Na	Na	Na	Na	Na	Na	Het;C>T	605;29|26	Hom;C>T	1306;1|43
N	N	-	9	117108122	117108122	C	T	snp	intronic	 	 	 	 	AKNA	Akna	ENSG00000106948	AT-hook transcription factor	chr9:117096436-117156685		Type 2 Diabetes| edema | rosiglitazone; Cervical Neoplasm|Uterine Cervical Neoplasms	Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKNA	https://www.uniprot.org/uniprot/Q7Z591		https://www.ncbi.nlm.nih.gov/omim/?term=605729	http://www.informatics.jax.org/searchtool/Search.do?query=AKNA&submit=Quick%0D%3563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNA	rs3762054	0.184704	0.1837	0.2134	1	0	0	intronic	intronic	intronic	AKNA	AKNA	ENSG00000106948	Na	Na	Na	Na	Na	Na	Het;C>T	1143;69|55	Hom;C>T	4247;0|158
N	N	-	9	117122202	117122202	C	T	snp	synonymous SNV	G2265A	E755E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AKNA	Akna	ENSG00000106948	AT-hook transcription factor	chr9:117096436-117156685		Type 2 Diabetes| edema | rosiglitazone; Cervical Neoplasm|Uterine Cervical Neoplasms	Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKNA	https://www.uniprot.org/uniprot/Q7Z591		https://www.ncbi.nlm.nih.gov/omim/?term=605729	http://www.informatics.jax.org/searchtool/Search.do?query=AKNA&submit=Quick%0D%3563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNA	rs3748177	0.389976	0.4187	0.4867	1	0	0	exonic	exonic	exonic	AKNA	AKNA	ENSG00000106948	synonymous SNV	synonymous SNV	unknown	AKNA:NM_030767:exon10:c.G2265A:p.E755E,	AKNA:uc004bir.3:exon10:c.G2265A:p.E755E,AKNA:uc004bin.3:exon1:c.G6A:p.E2E,AKNA:uc004bip.3:exon8:c.G2022A:p.E674E,AKNA:uc004bis.3:exon10:c.G2265A:p.E755E,AKNA:uc004bio.3:exon9:c.G645A:p.E215E,AKNA:uc004biq.3:exon9:c.G2265A:p.E755E,AKNA:uc004biu.1:exon9:c.G1488A:p.E496E,AKNA:uc010mve.2:exon9:c.G1908A:p.E636E,AKNA:uc004biv.1:exon10:c.G2265A:p.E755E,	UNKNOWN	Het;C>T	893;32|42	Hom;C>T	1805;0|71
N	N	-	9	117124519	117124519	A	T	snp	intronic	 	 	 	 	AKNA	Akna	ENSG00000106948	AT-hook transcription factor	chr9:117096436-117156685		Type 2 Diabetes| edema | rosiglitazone; Cervical Neoplasm|Uterine Cervical Neoplasms	Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKNA	https://www.uniprot.org/uniprot/Q7Z591		https://www.ncbi.nlm.nih.gov/omim/?term=605729	http://www.informatics.jax.org/searchtool/Search.do?query=AKNA&submit=Quick%0D%3563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNA	rs2636901	0.499601	0	0	1	0	0	intronic	intronic	intronic	AKNA	AKNA	ENSG00000106948	Na	Na	Na	Na	Na	Na	Het;A>T	38;2|2	Hom;A>T	124;0|4
N	N	-	9	117124731	117124731	G	A	snp	nonsynonymous SNV	C1871T	P624L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AKNA	Akna	ENSG00000106948	AT-hook transcription factor	chr9:117096436-117156685		Type 2 Diabetes| edema | rosiglitazone; Cervical Neoplasm|Uterine Cervical Neoplasms	Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AKNA	https://www.uniprot.org/uniprot/Q7Z591		https://www.ncbi.nlm.nih.gov/omim/?term=605729	http://www.informatics.jax.org/searchtool/Search.do?query=AKNA&submit=Quick%0D%3563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNA	rs3748176	0.384185	0.4150	0.5021	0.15	2	13	exonic	exonic	exonic	AKNA	AKNA	ENSG00000106948	nonsynonymous SNV	nonsynonymous SNV	unknown	AKNA:NM_030767:exon8:c.C1871T:p.P624L,	AKNA:uc004bir.3:exon8:c.C1871T:p.P624L,AKNA:uc004bip.3:exon6:c.C1628T:p.P543L,AKNA:uc004bis.3:exon8:c.C1871T:p.P624L,AKNA:uc004bio.3:exon7:c.C251T:p.P84L,AKNA:uc004biq.3:exon7:c.C1871T:p.P624L,AKNA:uc004biu.1:exon7:c.C1094T:p.P365L,AKNA:uc010mve.2:exon7:c.C1514T:p.P505L,AKNA:uc004biv.1:exon8:c.C1871T:p.P624L,	UNKNOWN	Het;G>A	1540;66|74	Hom;G>A	3887;0|140
N	N	-	9	117169033	117169033	A	G	snp	nonsynonymous SNV	T1838C	M613T	hydrophobic,neutral	polar,hydrophilic,neutral	DFNB31	Whrn																	rs942519	0.481629	0.4920	0.5311	0.08	1	13	exonic	exonic	exonic	DFNB31	DFNB31	ENSG00000095397	nonsynonymous SNV	nonsynonymous SNV	unknown	DFNB31:NM_015404:exon9:c.T1838C:p.M613T,DFNB31:NM_001083885:exon9:c.T689C:p.M230T,DFNB31:NM_001173425:exon9:c.T1838C:p.M613T,	DFNB31:uc004bix.3:exon5:c.T785C:p.M262T,DFNB31:uc004bja.4:exon9:c.T1838C:p.M613T,DFNB31:uc004biz.4:exon9:c.T1838C:p.M613T,DFNB31:uc004biy.4:exon9:c.T689C:p.M230T,	UNKNOWN	Het;A>G	1151;67|58	Hom;A>G	4130;0|155
N	N	-	9	117188714	117188714	T	C	snp	intronic	 	 	 	 	DFNB31	Whrn																	rs2274163	0.348243	0.3029	0.3253	1	0	0	intronic	intronic	intronic	DFNB31	DFNB31	ENSG00000095397	Na	Na	Na	Na	Na	Na	Het;T>C	503;40|27	Hom;T>C	1434;0|53
N	N	-	9	117889206	117889206	G	A	snp	ncRNA_intronic	 	 	 	 	LOC101928748																		rs10817713	0.301118	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC101928748	TNC(dist=8670),DEC1(dist=14891)	ENSG00000236461	Na	Na	Na	Na	Na	Na	Het;G>A	891;37|38	Hom;G>A	1476;0|52
N	N	-	9	117950377	117950377	A	G	snp	intronic	 	 	 	 	DEC1																		rs6478150	0.700679	0	0	1	0	0	intronic	intronic	intronic	DEC1	DEC1	ENSG00000173077	Na	Na	Na	Na	Na	Na	Het;A>G	761;41|39	Hom;A>G	1644;0|66
N	N	-	9	118163563	118163563	C	T	snp	nonsynonymous SNV	C179T	A60V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DEC1																		rs2269700	0.762181	0.7037	0.6778	0.09	1	11	exonic	exonic	exonic	DEC1	DEC1	ENSG00000173077	nonsynonymous SNV	nonsynonymous SNV	unknown	DEC1:NM_017418:exon7:c.C179T:p.A60V,	DEC1:uc004bjk.1:exon7:c.C179T:p.A60V,	UNKNOWN	Het;C>T	2048;136|105	Hom;C>T	5755;0|222
N	N	-	9	118214092	118214092	T	G	snp	intergenic	 	 	 	 	DEC1																		rs1632817	0.372204	0	0	1	0	0	intergenic	intergenic	intergenic	DEC1(dist=49169),LOC101928775(dist=287857)	DEC1(dist=49169),U2(dist=282579)	ENSG00000173077(dist=49169),ENSG00000228714(dist=287850)	Na	Na	Na	Na	Na	Na	Het;T>G	1197;68|57	Hom;T>G	2514;0|95
N	N	-	9	118917007	118917008	TC	T	indel	intronic	 	 	 	 	PAPPA	Pappa	ENSG00000182752	pappalysin 1	chr9:118916083-119164601	This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008]	Echocardiography; Body Height; Cleft Lip|Cleft Palate; height; Abortion, Habitual|Infertility, Female; Tobacco Use Disorder; Heart Failure	Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile.	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	GO:0006508;proteolysis;IEA|GO:0007565;female pregnancy;TAS|GO:0032354;response to follicle-stimulating hormone;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0051384;response to glucocorticoid;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0004175;endopeptidase activity;IEA|GO:0004222;metalloendopeptidase activity;EXP|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAPPA			https://www.ncbi.nlm.nih.gov/omim/?term=176385	http://www.informatics.jax.org/searchtool/Search.do?query=PAPPA&submit=Quick%0D%14849ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAPPA	rs398096639	0.508187	0	0	1	0	0	intronic	intronic	intronic	PAPPA	PAPPA	ENSG00000182752	Na	Na	Na	Na	Na	Na	Het;-C	93;1|4	Hom;-C	75;0|3
N	N	-	9	119162545	119162545	C	A	snp	ncRNA_exonic	 	 	 	 	PAPPA-AS1																		rs3194846	0.860024	0	0	1	0	0	ncRNA_exonic	UTR3	UTR5;UTR3	PAPPA-AS1	PAPPA(uc004bjn.3:c.*3650C>A,uc011lxq.2:c.*3650C>A)	ENSG00000256040(ENST00000445861:c.-1480G>T);ENSG00000182752(ENST00000328252:c.*3650C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	1209;65|57	Hom;C>A	2345;0|85
N	N	-	9	119309609	119309609	A	G	snp	ncRNA_exonic	 	 	 	 	ASTN2-AS1																		rs10817902	0.116214	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ASTN2-AS1	LOC100128505	ENSG00000229105	Na	Na	Na	Na	Na	Na	Het;A>G	433;21|19	Hom;A>G	1190;0|37
N	N	-	9	119313242	119313242	C	T	snp	ncRNA_intronic	 	 	 	 	LOC100128505																		rs59494108	0.115216	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	ASTN2-AS1	LOC100128505	ENSG00000229105	Na	Na	Na	Na	Na	Na	Het;C>T	559;26|27	Hom;C>T	1541;0|59
N	N	-	9	119324347	119324347	G	A	snp	ncRNA_exonic	 	 	 	 	ASTN2-AS1																		rs61427337	0.115016	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ASTN2-AS1	LOC100128505	ENSG00000229105	Na	Na	Na	Na	Na	Na	Het;G>A	1262;42|34	Hom;G>A	3381;0|76
N	N	-	9	119324348	119324348	C	T	snp	ncRNA_exonic	 	 	 	 	ASTN2-AS1																		rs61241578	0.115016	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	ASTN2-AS1	LOC100128505	ENSG00000229105	Na	Na	Na	Na	Na	Na	Het;C>T	1262;42|34	Hom;C>T	3381;0|76
N	N	-	9	119414076	119414076	G	A	snp	intronic	 	 	 	 	ASTN2	Astn2	ENSG00000148219	astrotactin 2	chr9:119187504-120177348	This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]	Apolipoproteins C; Perphenazine; several psychiatric disorders; Adult ADHD | attention deficit hyperactivity disorder; Body Mass Index; Fibrinogen; Blood Pressure Determination; Glucose; ADHD | attention-deficit hyperactivity disorder; Stroke; Mental Competency; Hippocampus; schizophrenia; Tobacco Use Disorder; Cholesterol; response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Brain Ischemia|Stroke; Hypertension; Insulin; Adiponectin; Cholesterol, LDL; Coronary Artery Disease	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:2000009;negative regulation of protein localization to cell surface;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043204;perikaryon;IEA|GO:0060187;cell pole;IEA	GO:0005509;calcium ion binding;IDA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASTN2	https://www.uniprot.org/uniprot/O75129		https://www.ncbi.nlm.nih.gov/omim/?term=612856	http://www.informatics.jax.org/searchtool/Search.do?query=ASTN2&submit=Quick%0D%9087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASTN2	rs2295742	0.114816	0.0011	0.0569	1	0	0	intronic	intronic	intronic	ASTN2	ASTN2	ENSG00000148219	Na	Na	Na	Na	Na	Na	Het;G>A	930;37|39	Hom;G>A	2028;0|75
N	N	-	9	119449230	119449230	G	C	snp	UTR5	-146C>G	 	 	 	ASTN2	Astn2	ENSG00000148219	astrotactin 2	chr9:119187504-120177348	This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]	Apolipoproteins C; Perphenazine; several psychiatric disorders; Adult ADHD | attention deficit hyperactivity disorder; Body Mass Index; Fibrinogen; Blood Pressure Determination; Glucose; ADHD | attention-deficit hyperactivity disorder; Stroke; Mental Competency; Hippocampus; schizophrenia; Tobacco Use Disorder; Cholesterol; response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Brain Ischemia|Stroke; Hypertension; Insulin; Adiponectin; Cholesterol, LDL; Coronary Artery Disease	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:2000009;negative regulation of protein localization to cell surface;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043204;perikaryon;IEA|GO:0060187;cell pole;IEA	GO:0005509;calcium ion binding;IDA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASTN2	https://www.uniprot.org/uniprot/O75129		https://www.ncbi.nlm.nih.gov/omim/?term=612856	http://www.informatics.jax.org/searchtool/Search.do?query=ASTN2&submit=Quick%0D%9087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASTN2	rs11790014	0.215655	0	0	1	0	0	UTR5	UTR5	UTR5	ASTN2(NM_198186:c.-146C>G)	ASTN2(uc004bjp.2:c.-146C>G)	ENSG00000148219(ENST00000288520:c.-146C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	185;5|6	Hom;G>C	144;0|5
N	N	-	9	119582872	119582872	T	G	snp	intronic	 	 	 	 	ASTN2	Astn2	ENSG00000148219	astrotactin 2	chr9:119187504-120177348	This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]	Apolipoproteins C; Perphenazine; several psychiatric disorders; Adult ADHD | attention deficit hyperactivity disorder; Body Mass Index; Fibrinogen; Blood Pressure Determination; Glucose; ADHD | attention-deficit hyperactivity disorder; Stroke; Mental Competency; Hippocampus; schizophrenia; Tobacco Use Disorder; Cholesterol; response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Brain Ischemia|Stroke; Hypertension; Insulin; Adiponectin; Cholesterol, LDL; Coronary Artery Disease	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:2000009;negative regulation of protein localization to cell surface;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043204;perikaryon;IEA|GO:0060187;cell pole;IEA	GO:0005509;calcium ion binding;IDA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASTN2	https://www.uniprot.org/uniprot/O75129		https://www.ncbi.nlm.nih.gov/omim/?term=612856	http://www.informatics.jax.org/searchtool/Search.do?query=ASTN2&submit=Quick%0D%9087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASTN2	rs3765537	0.746206	0.7493	0.7294	1	0	0	intronic	intronic	intronic	ASTN2	ASTN2	ENSG00000148219	Na	Na	Na	Na	Na	Na	Het;T>G	203;13|10	Hom;T>G	603;0|21
N	N	-	9	119801932	119801932	T	C	snp	intronic	 	 	 	 	ASTN2	Astn2	ENSG00000148219	astrotactin 2	chr9:119187504-120177348	This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]	Apolipoproteins C; Perphenazine; several psychiatric disorders; Adult ADHD | attention deficit hyperactivity disorder; Body Mass Index; Fibrinogen; Blood Pressure Determination; Glucose; ADHD | attention-deficit hyperactivity disorder; Stroke; Mental Competency; Hippocampus; schizophrenia; Tobacco Use Disorder; Cholesterol; response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Brain Ischemia|Stroke; Hypertension; Insulin; Adiponectin; Cholesterol, LDL; Coronary Artery Disease	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:2000009;negative regulation of protein localization to cell surface;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043204;perikaryon;IEA|GO:0060187;cell pole;IEA	GO:0005509;calcium ion binding;IDA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASTN2	https://www.uniprot.org/uniprot/O75129		https://www.ncbi.nlm.nih.gov/omim/?term=612856	http://www.informatics.jax.org/searchtool/Search.do?query=ASTN2&submit=Quick%0D%9087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASTN2	rs7035492	0.718051	0	0	1	0	0	intronic	intronic	intronic	ASTN2	ASTN2	ENSG00000148219	Na	Na	Na	Na	Na	Na	Het;T>C	74;2|3	Hom;T>C	165;0|5
N	N	-	9	119977051	119977051	G	T	snp	intronic	 	 	 	 	ASTN2	Astn2	ENSG00000148219	astrotactin 2	chr9:119187504-120177348	This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]	Apolipoproteins C; Perphenazine; several psychiatric disorders; Adult ADHD | attention deficit hyperactivity disorder; Body Mass Index; Fibrinogen; Blood Pressure Determination; Glucose; ADHD | attention-deficit hyperactivity disorder; Stroke; Mental Competency; Hippocampus; schizophrenia; Tobacco Use Disorder; Cholesterol; response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Brain Ischemia|Stroke; Hypertension; Insulin; Adiponectin; Cholesterol, LDL; Coronary Artery Disease	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:2000009;negative regulation of protein localization to cell surface;IEA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043204;perikaryon;IEA|GO:0060187;cell pole;IEA	GO:0005509;calcium ion binding;IDA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASTN2	https://www.uniprot.org/uniprot/O75129		https://www.ncbi.nlm.nih.gov/omim/?term=612856	http://www.informatics.jax.org/searchtool/Search.do?query=ASTN2&submit=Quick%0D%9087ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASTN2	rs7856971	0.321486	0.3179	0.3340	1	0	0	intronic	intronic	intronic	ASTN2	ASTN2	ENSG00000148219	Na	Na	Na	Na	Na	Na	Het;G>T	430;37|21	Hom;G>T	925;0|32
N	N	-	9	120466929	120466930	CA	C	indel	intronic	 	 	 	 	TLR4	Tlr4	ENSG00000136869	toll like receptor 4	chr9:120466610-120479149	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	prostate cancer; periodontitis; atherosclerosis, coronary; hereditary hemochromatosis; Multiple Organ Failure|Sepsis|Systemic infection|Wounds and Injuries; esophageal cancer noncardia gastric carcinoma stomach cancer; Malaria, Falciparum; Hepatitis C, Chronic|Liver Cirrhosis; HELLP Syndrome|Inflammation|Pre-Eclampsia; Amyloidosis|Familial Mediterranean Fever|Tuberculosis, Pulmonary; tumor necrosis factor-alpha responses; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; Bronchiolitis Obliterans; acute coronary syndrome; Spondylitis, Ankylosing; Vaginosis, Bacterial; cerebral arteriopathy; bone density osteopenia osteoporosis; antibody formation Crohn's disease ulcerative colitis; Triglycerides; Fractures, Bone|Fractures, Closed|Humeral Fractures; respiratory syncytial virus; lupus erythematosus; rheumatoid arthritis; Heart Failure; C-reactive protein; allergic rhinitis; Mental Disorders; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; atopy; sepsis; FEV1; angina atherosclerosis, coronary; inflammatory bowel disease ; HIV-1 viral load; meningococcal disease; Chagas Cardiomyopathy|; Hepatitis C, Chronic|Liver Diseases|Liver Diseases, Alcoholic; Coronary Restenosis; Asthma|Bronchiolitis; systemic lupus erythematosus; Meningococcal Disease; filiariasis; asthma; Multiple Organ Failure|Sepsis|Wounds and Injuries; Anus Diseases|Inflammatory Bowel Diseases; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; necrotizing enterocolitis; cytokine release mortality; Bacteremia|; Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Meningococcal Infections; Stomach Neoplasms; longevity; Dermatitis, Atopic|Eczema allergic|Hypersensitivity, Immediate; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Bone Mineral Density; Endometrial Neoplasms; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; infertility, female; diabetes, type 1; gastric disease; Atrophy|Gastritis|Helicobacter Infections|Stomach Neoplasms; cystic fibrosis; Albuminuria|Diabetes mellitus|Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Inflammation|Premature Birth; shortened gestation; ulcerative colitis; Burns|Multiple Organ Failure|Shock; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Colitis, Ulcerative|Crohn Disease; Pre-Eclampsia; benzene haematotoxicity; Lymphadenitis|Mycobacterium Infections|Periodontitis; Crohn Disease|Crohn's disease; arthritis; Bacteremia|HIV Infections|Pneumococcal Infections; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Inflammatory Bowel Diseases; Insulin Resistance|Obesity; Hypersensitivity; Tuberculosis, Pulmonary; Septic Shock; hypercholesterolemia; atherosclerosis, generalized; Autoimmune Diseases|Pancreatitis|Recurrence; Aspergillosis|Aspergillosis, Allergic Bronchopulmonary|Lung Diseases, Fungal; graft-versus-host disease; bacterermia malaria, plasmodium falciparum pneumonia tuberculosis; Mycoses; Pulmonary Disease, Chronic Obstructive; pouchitis; Bacteremia|Gram-Negative Bacterial Infections; Duodenal Ulcer|Helicobacter Infections; Coronary Disease|Inflammation; Arthritis, Rheumatoid; aspergillosis; Burns|Sepsis|Systemic infection; multiple sclerosis; patent ductus arteriosus; asthma and atopy; duodenal ulcer gastritis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cystitis|Pyelonephritis|Urinary Tract Infections; Giant Cell Arteritis; blood pressure; Boutonneuse fever; Burns|Infection|Wounds and Injuries; Gastritis|Helicobacter Infections|Precancerous Conditions|Stomach Neoplasms; HIV Infections; Sarcoidosis; Multiple Myeloma; Cardiovascular Diseases; Bipolar Disorder; Crohn's disease; response to endotoxin; Candida albicans infection; cytomegalovirus infection, post allograft kidney transplant; bladder cancer; tuberculosis ; Brain Infarction; Endotoxemia; H. pylori infection; body mass index; bacteriuria; Hepatitis C, Chronic; brucellosis; Aspergillosis|; Epilepsy|Neurocysticercosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chlamydia; asthma; atopy; Crohn's disease ulcerative colitis; Meningococcal Infections|Pneumococcal Infections; Crohn Disease|Rectal Fistula; Neoplasm Recurrence, Local|Neoplasms, Prostatic|Prostatic Neoplasms; myocardial infarct; ankylosing spondylitis; null; Brain Ischemia|Dementia|Myocardial Infarction; Pregnancy Complications, Infectious|Vaginosis, Bacterial; cytokine synthesis; sarcoidosis; metabolic syndrome; Arthritis, Rheumatoid|Rheumatoid Arthritis; macular degeneration; rubella vaccine; cervical cancer; Schizophrenia; hematology indices; antibody response to pertussis vaccination; Lymphoma, Non-Hodgkin; Premature Birth; Eczema|Food Hypersensitivity; Hip; Periodontitis; Alzheimer's disease ; Pancreatitis; diabetes, neurological manifestations; bacterial infection; Fetal Membranes, Premature Rupture|Premature Birth; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; stroke, ischemic; C-reactive protein intima-media thickness; diabetes, type 1 ; bacterial vaginosis; Typhoid Fever; Cleft Lip|Cleft Palate|Tooth Abnormalities; Graves Ophthalmopathy|Thyroid associated opthalmopathies; normal variation; Aggressive Periodontitis|Chronic Periodontitis|; Cellulitis|Obesity; appendicitis; inflammatory bowel disease; Burns|Shock, Septic; Meningeal Neoplasms|meningioma; Chlamydia trachomatis; pregnancy loss; Cerebral Palsy; Macular Degeneration; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; malaria; gram-negative infection; lipopolysaccharide-induced cytokine release; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Type 2 diabetes; Atherosclerosis|Hypercholesterolemia; asthma; candidiasis; high-altitude illness; HIV; Aggressive Periodontitis|; Malaria; Dermatitis, Atopic|; Coronary Artery Disease|Inflammation; lipopolysaccharide hyporesponsiveness; Duodenal Ulcer|Gastritis|Helicobacter Infections|Metaplasia|Stomach Neoplasms; HIV Infections|Lipodystrophy; Brain Ischemia|Stroke; Giant Cell Arteritis|Temporal Arteritis; Parkinson Disease; bacteremia; cholangitis, sclerosing; cervical intraepithelial neoplasia grade 3; Respiratory Syncytial Virus Infections; Celiac Disease; atherosclerosis, coronary; diabetes, type 2; C-reactive protein; vaginal micro-flora; asthma; allergic rhinitis; atopic dermatitis; Apoplexy|Giant Cell Arteritis|Polymyalgia Rheumatica|Stroke|Temporal Arteritis|Vision, Low; Lipopolysaccharide Hyporesponsiveness; Candidiasis, Oral|HIV Infections|Oral candidiasis|[X]Human immunodeficiency virus disease; Respiratory Function Tests; Guillain-Barre syndrome; Leprosy; bronchodilator response; Exercise Test; Cholesterol, LDL; periodontal disease; pancreatic necrosis pancreatitis, acute; infection, postoperative; malaria, plasmodium falciparum; Behcet Syndrome; Acute Coronary Syndrome|; Hepatitis C, Chronic|Reperfusion Injury; Coronary Disease; bronchiolitis; Critical Illness|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; intima-media thickness; chronic obstructive pulmonary disease; Arthritis|Behcet Syndrome|; Glaucoma, Open-Angle; Malaria, Cerebral; Subcutaneous Fat; Systemic responsiveness to lipopolysaccharide; rheumatic heart disease; Crohn Disease|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Helicobacter Infections; pulmonary function; arthritis spondyloarthropathies; Kidney Failure, Chronic; Tuberculosis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Pneumococcal Infections; Gram neg. septic shock; lymphoma, non-Hodgkin; pancreatitis, acute; Asthma|; Chorioamnionitis|Inflammation|Premature Birth; Sepsis|Systemic infection; Virus Diseases; Macular Degeneration|Vision, Low; HIV Infections|Tuberculosis|[X]Human immunodeficiency virus disease; Gastritis|Helicobacter Infections|Stomach Neoplasms; Crohn's disease; ulcerative colitis; Legionnaire's disease; tuberculosis; atherosclerosis; nasopharyngeal cancer; Hepatitis B|Liver Cirrhosis; respiratory syncytial virus bronchiolitis; Malaria, Falciparum|Parasitemia; Adenocarcinoma|Stomach Neoplasms; atherosclerosis, aortic; Myocardial Infarction; Bacteriuria|Urinary tract infection|Urinary Tract Infections; Cerebral Palsy|Pregnancy Complications, Infectious|Virus Diseases; premature rupture of membranes; stomach cancer; colorectal cancer; Chronic Periodontitis|; Albuminuria|Inflammation|Kidney Diseases; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; AIDS-Related Opportunistic Infections|HIV Infections|[X]Human immunodeficiency virus disease; rheumatoid arthritis; Magnesium; Lymphoma, B-Cell, Marginal Zone|Stomach Neoplasms; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Helicobacter Infections|Toxoplasmosis; Bacterial Infections|Liver Cirrhosis; endotoxin hyporesponsiveness; Bronchiolitis, Viral; Cross Infection|Pneumonia, Ventilator-Associated|Sepsis|Systemic infection; atherothrombosis; Arthritis, Reactive|Salmonella Infections; breast cancer ; lymphoma; kidney transplant; systemic inflammatory hyporesponsiveness; preterm delivery; Chlamydia Infections|Fallopian Tube Diseases; Hodgkin Disease|Inflammation; Otitis Media|Recurrence; Lymphoma, Large B-Cell, Diffuse; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; tuberculosis; pneumococcal disease; Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; acute pancreatitis; diabetes, type 2; Carotid Artery Diseases; Q Fever	Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria.	IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation	GO:0000187;activation of MAPK activity;ISS|GO:0002218;activation of innate immune response;IEA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002322;B cell proliferation involved in immune response;IEA|GO:0002376;immune system process;IEA|GO:0002537;nitric oxide production involved in inflammatory response;IEA|GO:0002730;regulation of dendritic cell cytokine production;IEA|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0002756;MyD88-independent toll-like receptor signaling pathway;TAS|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;IDA|GO:0009617;response to bacterium;IEA|GO:0010572;positive regulation of platelet activation;ISS|GO:0010628;positive regulation of gene expression;IMP|GO:0014002;astrocyte development;IEA|GO:0016046;detection of fungus;NAS|GO:0030890;positive regulation of B cell proliferation;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IGI|GO:0032496;response to lipopolysaccharide;IC|GO:0032497;detection of lipopolysaccharide;IDA|GO:0032609;interferon-gamma production;IEA|GO:0032689;negative regulation of interferon-gamma production;ISS|GO:0032700;negative regulation of interleukin-17 production;ISS|GO:0032707;negative regulation of interleukin-23 production;ISS|GO:0032715;negative regulation of interleukin-6 production;ISS|GO:0032720;negative regulation of tumor necrosis factor production;ISS|GO:0032722;positive regulation of chemokine production;IDA|GO:0032727;positive regulation of interferon-alpha production;ISS|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0032729;positive regulation of interferon-gamma production;ISS|GO:0032732;positive regulation of interleukin-1 production;ISS|GO:0032733;positive regulation of interleukin-10 production;ISS|GO:0032735;positive regulation of interleukin-12 production;ISS|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;ISS|GO:0032874;positive regulation of stress-activated MAPK cascade;IEA|GO:0034128;negative regulation of MyD88-independent toll-like receptor signaling pathway;TAS|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0042088;T-helper 1 type immune response;NAS|GO:0042116;macrophage activation;IMP|GO:0042346;positive regulation of NF-kappaB import into nucleus;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IDA|GO:0042742;defense response to bacterium;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0045084;positive regulation of interleukin-12 biosynthetic process;IDA|GO:0045087;innate immune response;TAS|GO:0045348;positive regulation of MHC class II biosynthetic process;IEA|GO:0045359;positive regulation of interferon-beta biosynthetic process;IEA|GO:0045416;positive regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045671;negative regulation of osteoclast differentiation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046330;positive regulation of JNK cascade;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IEA|GO:0050702;interleukin-1 beta secretion;ISS|GO:0050707;regulation of cytokine secretion;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0050729;positive regulation of inflammatory response;IC|GO:0050829;defense response to Gram-negative bacterium;IC|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;ISS|GO:0060729;intestinal epithelial structure maintenance;ISS|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0070266;necroptotic process;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070430;positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway;IEA|GO:0070434;positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway;IEA|GO:0071222;cellular response to lipopolysaccharide;ISS|GO:0071223;cellular response to lipoteichoic acid;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0097190;apoptotic signaling pathway;TAS|GO:1900227;positive regulation of NLRP3 inflammasome complex assembly;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0046696;lipopolysaccharide receptor complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0001530;lipopolysaccharide binding;IMP|GO:0001875;lipopolysaccharide receptor activity;IDA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TLR4	https://www.uniprot.org/uniprot/O00206	https://hpo.jax.org/app/browse/search?q=TLR4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603030	http://www.informatics.jax.org/searchtool/Search.do?query=TLR4&submit=Quick%0D%7423ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLR4	rs398012010	0	0	0	1	0	0	intronic	intronic	intronic	TLR4	TLR4	ENSG00000136869	Na	Na	Na	Na	Na	Na	Het;-A	356;7|19	Hom;-A	469;3|25
N	N	-	9	122575436	122575436	G	A	snp	intergenic	 	 	 	 	AC006288.1																		rs7873347	0.858227	0	0	1	0	0	intergenic	intergenic	intergenic	BRINP1(dist=443697),MIR147A(dist=431821)	DBC1(dist=443697),MIR147A(dist=431821)	ENSG00000260970(dist=289033),ENSG00000261432(dist=121895)	Na	Na	Na	Na	Na	Na	Het;G>A	387;32|20	Hom;G>A	1199;0|46
N	N	-	9	122575547	122575547	C	T	snp	intergenic	 	 	 	 	AC006288.1																		rs7873273	0.820487	0	0	1	0	0	intergenic	intergenic	intergenic	BRINP1(dist=443808),MIR147A(dist=431710)	DBC1(dist=443808),MIR147A(dist=431710)	ENSG00000260970(dist=289144),ENSG00000261432(dist=121784)	Na	Na	Na	Na	Na	Na	Het;C>T	660;30|34	Hom;C>T	1835;0|54
N	N	-	9	12270232	12270232	T	C	snp	intergenic	 	 	 	 	AL589678.1																		rs10756354	0.704673	0	0	1	0	0	intergenic	intergenic	intergenic	PTPRD-AS2(dist=1649812),TYRP1(dist=423154)	JB175300(dist=516179),TYRP1(dist=423154)	ENSG00000224935(dist=111085),ENSG00000231491(dist=17088)	Na	Na	Na	Na	Na	Na	Het;T>C	304;5|10	Hom;T>C	806;0|23
N	N	-	9	123151125	123151125	G	T	snp	downstream	 	 	 	 	CDK5RAP2	Cdk5rap2	ENSG00000136861	CDK5 regulatory subunit associated protein 2	chr9:123151147-123342448	This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Micrencephaly |Microcephaly; Alcoholism	Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death.  Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2	https://www.uniprot.org/uniprot/Q96SN8	https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608201	http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2	rs7037806	0.241214	0	0	1	0	0	downstream	downstream	downstream	CDK5RAP2	CDK5RAP2	ENSG00000136861	Na	Na	Na	Na	Na	Na	Het;G>T	454;21|18	Hom;G>T	937;0|31
N	N	-	9	123152099	123152099	C	G	snp	intronic	 	 	 	 	CDK5RAP2	Cdk5rap2	ENSG00000136861	CDK5 regulatory subunit associated protein 2	chr9:123151147-123342448	This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Micrencephaly |Microcephaly; Alcoholism	Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death.  Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2	https://www.uniprot.org/uniprot/Q96SN8	https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608201	http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2	rs2297457	0.734225	0.6976	0.7126	1	0	0	intronic	intronic	intronic	CDK5RAP2	CDK5RAP2	ENSG00000136861	Na	Na	Na	Na	Na	Na	Het;C>G	1347;62|64	Hom;C>G	2643;0|95
N	N	-	9	123152241	123152241	A	C	snp	intronic	 	 	 	 	CDK5RAP2	Cdk5rap2	ENSG00000136861	CDK5 regulatory subunit associated protein 2	chr9:123151147-123342448	This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Micrencephaly |Microcephaly; Alcoholism	Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death.  Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2	https://www.uniprot.org/uniprot/Q96SN8	https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608201	http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2	rs2297456	0.714457	0	0	1	0	0	intronic	intronic	intronic	CDK5RAP2	CDK5RAP2	ENSG00000136861	Na	Na	Na	Na	Na	Na	Het;A>C	190;6|7	Hom;A>C	575;0|16
N	N	-	9	123156591	123156591	A	G	snp	intronic	 	 	 	 	CDK5RAP2	Cdk5rap2	ENSG00000136861	CDK5 regulatory subunit associated protein 2	chr9:123151147-123342448	This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Micrencephaly |Microcephaly; Alcoholism	Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death.  Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2	https://www.uniprot.org/uniprot/Q96SN8	https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608201	http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2	rs7859743	0.695887	0	0	1	0	0	intronic	intronic	intronic	CDK5RAP2	CDK5RAP2	ENSG00000136861	Na	Na	Na	Na	Na	Na	Het;A>G	48;2|3	Hom;A>G	184;0|5
N	N	-	9	123156761	123156761	G	C	snp	intronic	 	 	 	 	CDK5RAP2	Cdk5rap2	ENSG00000136861	CDK5 regulatory subunit associated protein 2	chr9:123151147-123342448	This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Micrencephaly |Microcephaly; Alcoholism	Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death.  Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2	https://www.uniprot.org/uniprot/Q96SN8	https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608201	http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2	rs4410972	0.6875	0.6419	0.6951	1	0	0	intronic	intronic	intronic	CDK5RAP2	CDK5RAP2	ENSG00000136861	Na	Na	Na	Na	Na	Na	Het;G>C	1251;103|64	Hom;G>C	3757;0|137
N	N	-	9	123751800	123751800	A	G	snp	intronic	 	 	 	 	C5	Hc	ENSG00000106804	complement C5	chr9:123714616-123812554	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma	Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.	Regulation of Complement cascade	GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/C5	https://www.uniprot.org/uniprot/P01031	https://hpo.jax.org/app/browse/search?q=C5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120900	http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5	rs3764912	0.508986	0.4117	0.6064	1	0	0	intronic	intronic	intronic	C5	C5	ENSG00000106804	Na	Na	Na	Na	Na	Na	Het;A>G	97;13|6	Hom;A>G	488;0|15
N	N	-	9	123758425	123758425	T	C	snp	intronic	 	 	 	 	C5	Hc	ENSG00000106804	complement C5	chr9:123714616-123812554	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma	Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.	Regulation of Complement cascade	GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/C5	https://www.uniprot.org/uniprot/P01031	https://hpo.jax.org/app/browse/search?q=C5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120900	http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5	rs10760134	0.409944	0	0	1	0	0	intronic	intronic	intronic	C5	C5	ENSG00000106804	Na	Na	Na	Na	Na	Na	Het;T>C	151;4|6	Hom;T>C	320;0|11
N	N	-	9	123760107	123760107	G	C	snp	intronic	 	 	 	 	C5	Hc	ENSG00000106804	complement C5	chr9:123714616-123812554	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma	Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.	Regulation of Complement cascade	GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/C5	https://www.uniprot.org/uniprot/P01031	https://hpo.jax.org/app/browse/search?q=C5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120900	http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5	rs10985118	0.409545	0	0	1	0	0	intronic	intronic	intronic	C5	C5	ENSG00000106804	Na	Na	Na	Na	Na	Na	Het;G>C	249;9|8	Hom;G>C	552;0|14
N	N	-	9	123769200	123769200	C	T	snp	nonsynonymous SNV	G2404A	V802I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C5	Hc	ENSG00000106804	complement C5	chr9:123714616-123812554	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma	Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.	Regulation of Complement cascade	GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/C5	https://www.uniprot.org/uniprot/P01031	https://hpo.jax.org/app/browse/search?q=C5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120900	http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5	rs17611	0.404752	0.3249	0.4586	0.08	1	13	exonic	exonic	exonic	C5	C5	ENSG00000106804	nonsynonymous SNV	nonsynonymous SNV	unknown	C5:NM_001735:exon19:c.G2404A:p.V802I,	C5:uc004bkv.3:exon19:c.G2404A:p.V802I,C5:uc010mvm.1:exon19:c.G2404A:p.V802I,	UNKNOWN	Het;C>T	947;69|51	Hom;C>T	2669;2|106
N	N	-	9	123780005	123780005	G	A	snp	synonymous SNV	C1632T	Y544Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	C5	Hc	ENSG00000106804	complement C5	chr9:123714616-123812554	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma	Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.	Regulation of Complement cascade	GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/C5	https://www.uniprot.org/uniprot/P01031	https://hpo.jax.org/app/browse/search?q=C5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120900	http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5	rs25681	0.405751	0.3245	0.4570	1	0	0	exonic	exonic	exonic	C5	C5	ENSG00000106804	synonymous SNV	synonymous SNV	unknown	C5:NM_001735:exon13:c.C1632T:p.Y544Y,	C5:uc004bkv.3:exon13:c.C1632T:p.Y544Y,C5:uc010mvn.1:exon13:c.C1632T:p.Y544Y,C5:uc010mvm.1:exon13:c.C1632T:p.Y544Y,	UNKNOWN	Het;G>A	618;33|31	Hom;G>A	1759;0|67
N	N	-	9	123789634	123789634	C	T	snp	intronic	 	 	 	 	C5	Hc	ENSG00000106804	complement C5	chr9:123714616-123812554	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma	Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.	Regulation of Complement cascade	GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/C5	https://www.uniprot.org/uniprot/P01031	https://hpo.jax.org/app/browse/search?q=C5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120900	http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5	rs2416811	0.419728	0	0	1	0	0	intronic	intronic	intronic	C5	C5	ENSG00000106804	Na	Na	Na	Na	Na	Na	Het;C>T	209;16|10	Hom;C>T	644;0|22
N	N	-	9	123800094	123800094	T	A	snp	intronic	 	 	 	 	C5	Hc	ENSG00000106804	complement C5	chr9:123714616-123812554	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]	Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma	Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.	Regulation of Complement cascade	GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/C5	https://www.uniprot.org/uniprot/P01031	https://hpo.jax.org/app/browse/search?q=C5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120900	http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C5	rs10818499	0.40016	0.3247	0	1	0	0	intronic	intronic	intronic	C5	C5	ENSG00000106804	Na	Na	Na	Na	Na	Na	Het;T>A	223;3|9	Hom;T>A	359;0|13
N	N	-	9	123857085	123857085	C	T	snp	intronic	 	 	 	 	CNTRL	Cntrl	ENSG00000119397	centriolin	chr9:123837141-123939888	This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]	breast cancer; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTRL	https://www.uniprot.org/uniprot/Q7Z7A1		https://www.ncbi.nlm.nih.gov/omim/?term=605496	http://www.informatics.jax.org/searchtool/Search.do?query=CNTRL&submit=Quick%0D%5055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTRL	rs10760146	0.430511	0	0	1	0	0	intronic	intronic	intronic	CNTRL	CNTRL	ENSG00000119397	Na	Na	Na	Na	Na	Na	Het;C>T	91;4|4	Hom;C>T	262;0|10
N	N	-	9	123860689	123860689	C	T	snp	nonsynonymous SNV	C647T	P216L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	CNTRL	Cntrl	ENSG00000119397	centriolin	chr9:123837141-123939888	This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]	breast cancer; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTRL	https://www.uniprot.org/uniprot/Q7Z7A1		https://www.ncbi.nlm.nih.gov/omim/?term=605496	http://www.informatics.jax.org/searchtool/Search.do?query=CNTRL&submit=Quick%0D%5055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTRL	rs10818504	0.430911	0.3491	0.4586	0.67	8	12	exonic	exonic	exonic	CNTRL	CNTRL	ENSG00000119397	nonsynonymous SNV	nonsynonymous SNV	unknown	CNTRL:NM_007018:exon5:c.C647T:p.P216L,	CNTRL:uc004bkw.2:exon7:c.C647T:p.P216L,CNTRL:uc004bkx.1:exon5:c.C647T:p.P216L,	UNKNOWN	Het;C>T	477;25|21	Hom;C>T	679;2|28
N	N	-	9	123917020	123917020	T	A	snp	synonymous SNV	T201A	V67V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CNTRL	Cntrl	ENSG00000119397	centriolin	chr9:123837141-123939888	This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]	breast cancer; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTRL	https://www.uniprot.org/uniprot/Q7Z7A1		https://www.ncbi.nlm.nih.gov/omim/?term=605496	http://www.informatics.jax.org/searchtool/Search.do?query=CNTRL&submit=Quick%0D%5055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTRL	rs3736855	0.432109	0.3510	0.4648	1	0	0	exonic	exonic	exonic	CNTRL	CNTRL	ENSG00000119397	synonymous SNV	synonymous SNV	unknown	CNTRL:NM_007018:exon25:c.T4194A:p.V1398V,	CNTRL:uc010mvo.1:exon8:c.T201A:p.V67V,CNTRL:uc004blb.1:exon2:c.T201A:p.V67V,CNTRL:uc004bla.1:exon16:c.T2538A:p.V846V,CNTRL:uc004bkx.1:exon25:c.T4194A:p.V1398V,	UNKNOWN	Het;T>A	453;31|23	Hom;T>A	1382;0|51
N	N	-	9	123937601	123937601	T	C	snp	intronic	 	 	 	 	CNTRL	Cntrl	ENSG00000119397	centriolin	chr9:123837141-123939888	This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]	breast cancer; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTRL	https://www.uniprot.org/uniprot/Q7Z7A1		https://www.ncbi.nlm.nih.gov/omim/?term=605496	http://www.informatics.jax.org/searchtool/Search.do?query=CNTRL&submit=Quick%0D%5055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTRL	rs3789310	0.435104	0	0	1	0	0	intronic	intronic	intronic	CNTRL	CNTRL	ENSG00000119397	Na	Na	Na	Na	Na	Na	Het;T>C	238;2|7	Hom;T>C	523;0|14
N	N	-	9	123939336	123939336	T	TA	indel	intronic	 	 	 	 	CNTRL	Cntrl	ENSG00000119397	centriolin	chr9:123837141-123939888	This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]	breast cancer; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CNTRL	https://www.uniprot.org/uniprot/Q7Z7A1		https://www.ncbi.nlm.nih.gov/omim/?term=605496	http://www.informatics.jax.org/searchtool/Search.do?query=CNTRL&submit=Quick%0D%5055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTRL	rs3838267	0.408347	0	0	1	0	0	intronic	intronic	intronic	CNTRL	CNTRL	ENSG00000119397	Na	Na	Na	Na	Na	Na	Het;+A	33;11|3	Hom;+A	150;0|5
N	N	-	9	123943884	123943884	C	T	snp	intronic	 	 	 	 	RAB14	Rab14	ENSG00000119396	RAB14, member RAS oncogene family	chr9:123940415-123985292	RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]	Echocardiography; Bilirubin	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0008543;fibroblast growth factor receptor signaling pathway;ISS|GO:0009790;embryo development;ISS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0030100;regulation of endocytosis;IBA|GO:0032456;endocytic recycling;IDA|GO:0032880;regulation of protein localization;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046907;intracellular transport;NAS|GO:0061024;membrane organization;TAS|GO:0090382;phagosome maturation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IDA|GO:0005764;lysosome;ISS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005791;rough endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;ISS|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030140;trans-Golgi network transport vesicle;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0042175;nuclear outer membrane-endoplasmic reticulum membrane network;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IDA|GO:0031489;myosin V binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB14	https://www.uniprot.org/uniprot/P61106		https://www.ncbi.nlm.nih.gov/omim/?term=612673	http://www.informatics.jax.org/searchtool/Search.do?query=RAB14&submit=Quick%0D%5054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB14	rs2296078	0.420128	0.3379	0.4573	1	0	0	intronic	intronic	intronic	RAB14	RAB14	ENSG00000119396	Na	Na	Na	Na	Na	Na	Het;C>T	320;24|17	Hom;C>T	527;0|21
N	N	-	9	123945505	123945505	C	CA	indel	intronic	 	 	 	 	RAB14	Rab14	ENSG00000119396	RAB14, member RAS oncogene family	chr9:123940415-123985292	RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]	Echocardiography; Bilirubin	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0008543;fibroblast growth factor receptor signaling pathway;ISS|GO:0009790;embryo development;ISS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0030100;regulation of endocytosis;IBA|GO:0032456;endocytic recycling;IDA|GO:0032880;regulation of protein localization;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046907;intracellular transport;NAS|GO:0061024;membrane organization;TAS|GO:0090382;phagosome maturation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IDA|GO:0005764;lysosome;ISS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005791;rough endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;ISS|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030140;trans-Golgi network transport vesicle;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0042175;nuclear outer membrane-endoplasmic reticulum membrane network;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IDA|GO:0031489;myosin V binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB14	https://www.uniprot.org/uniprot/P61106		https://www.ncbi.nlm.nih.gov/omim/?term=612673	http://www.informatics.jax.org/searchtool/Search.do?query=RAB14&submit=Quick%0D%5054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB14	rs3215744	0	0	0	1	0	0	intronic	intronic	intronic	RAB14	RAB14	ENSG00000119396	Na	Na	Na	Na	Na	Na	Het;+A	199;22|14	Hom;+A	812;3|35
N	N	-	9	123955756	123955756	G	A	snp	intronic	 	 	 	 	RAB14	Rab14	ENSG00000119396	RAB14, member RAS oncogene family	chr9:123940415-123985292	RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]	Echocardiography; Bilirubin	 	RAB GEFs exchange GTP for GDP on RABs	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0008543;fibroblast growth factor receptor signaling pathway;ISS|GO:0009790;embryo development;ISS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0030100;regulation of endocytosis;IBA|GO:0032456;endocytic recycling;IDA|GO:0032880;regulation of protein localization;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046907;intracellular transport;NAS|GO:0061024;membrane organization;TAS|GO:0090382;phagosome maturation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IDA|GO:0005764;lysosome;ISS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;ISS|GO:0005770;late endosome;ISS|GO:0005791;rough endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;ISS|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030140;trans-Golgi network transport vesicle;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0042175;nuclear outer membrane-endoplasmic reticulum membrane network;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IDA|GO:0031489;myosin V binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB14	https://www.uniprot.org/uniprot/P61106		https://www.ncbi.nlm.nih.gov/omim/?term=612673	http://www.informatics.jax.org/searchtool/Search.do?query=RAB14&submit=Quick%0D%5054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB14	rs10818516	0.407947	0.3466	0	1	0	0	intronic	intronic	intronic	RAB14	RAB14	ENSG00000119396	Na	Na	Na	Na	Na	Na	Het;G>A	127;16|8	Hom;G>A	1219;0|29
N	N	-	9	124073176	124073176	T	C	snp	intronic	 	 	 	 	GSN	Gsn	ENSG00000148180	gelsolin	chr9:123970072-124095121	The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system.  In addition, there are background related effects on viability and mammary gland development.	Amyloid fiber formation	GO:0006911;phagocytosis, engulfment;ISS|GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0008154;actin polymerization or depolymerization;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014003;oligodendrocyte development;IEA|GO:0014891;striated muscle atrophy;IMP|GO:0016192;vesicle-mediated transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030041;actin filament polymerization;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0031648;protein destabilization;IMP|GO:0042060;wound healing;IEA|GO:0042246;tissue regeneration;IEA|GO:0042989;sequestering of actin monomers;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045010;actin nucleation;IEA|GO:0045471;response to ethanol;IEA|GO:0046597;negative regulation of viral entry into host cell;IMP|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051014;actin filament severing;IDA|GO:0051016;barbed-end actin filament capping;TAS|GO:0051127;positive regulation of actin nucleation;IMP|GO:0051593;response to folic acid;IEA|GO:0051693;actin filament capping;IEA|GO:0060271;cilium assembly;IMP|GO:0071276;cellular response to cadmium ion;IEA|GO:0071801;regulation of podosome assembly;IMP|GO:0090527;actin filament reorganization;IGI|GO:0097017;renal protein absorption;IMP|GO:0097284;hepatocyte apoptotic process;IMP|GO:1902174;positive regulation of keratinocyte apoptotic process;IMP|GO:1903689;regulation of wound healing, spreading of epidermal cells;IGI|GO:1903903;regulation of establishment of T cell polarity;IMP|GO:1903906;regulation of plasma membrane raft polarization;IMP|GO:1903909;regulation of receptor clustering;IMP|GO:1903923;positive regulation of protein processing in phagocytic vesicle;ISS|GO:1990000;amyloid fibril formation;IMP|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0001726;ruffle;IEA|GO:0002102;podosome;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016528;sarcoplasm;IDA|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003779;actin binding;IDA|GO:0005509;calcium ion binding;IMP|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0045159;myosin II binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSN	https://www.uniprot.org/uniprot/P06396	https://hpo.jax.org/app/browse/search?q=GSN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137350	http://www.informatics.jax.org/searchtool/Search.do?query=GSN&submit=Quick%0D%9081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSN	rs306785	0.888978	0	0	1	0	0	intronic	intronic	intronic	GSN	GSN	ENSG00000148180	Na	Na	Na	Na	Na	Na	Het;T>C	281;27|14	Hom;T>C	955;2|35
N	N	-	9	124088768	124088768	T	C	snp	intronic	 	 	 	 	GSN	Gsn	ENSG00000148180	gelsolin	chr9:123970072-124095121	The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system.  In addition, there are background related effects on viability and mammary gland development.	Amyloid fiber formation	GO:0006911;phagocytosis, engulfment;ISS|GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0008154;actin polymerization or depolymerization;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014003;oligodendrocyte development;IEA|GO:0014891;striated muscle atrophy;IMP|GO:0016192;vesicle-mediated transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030041;actin filament polymerization;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0031648;protein destabilization;IMP|GO:0042060;wound healing;IEA|GO:0042246;tissue regeneration;IEA|GO:0042989;sequestering of actin monomers;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045010;actin nucleation;IEA|GO:0045471;response to ethanol;IEA|GO:0046597;negative regulation of viral entry into host cell;IMP|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051014;actin filament severing;IDA|GO:0051016;barbed-end actin filament capping;TAS|GO:0051127;positive regulation of actin nucleation;IMP|GO:0051593;response to folic acid;IEA|GO:0051693;actin filament capping;IEA|GO:0060271;cilium assembly;IMP|GO:0071276;cellular response to cadmium ion;IEA|GO:0071801;regulation of podosome assembly;IMP|GO:0090527;actin filament reorganization;IGI|GO:0097017;renal protein absorption;IMP|GO:0097284;hepatocyte apoptotic process;IMP|GO:1902174;positive regulation of keratinocyte apoptotic process;IMP|GO:1903689;regulation of wound healing, spreading of epidermal cells;IGI|GO:1903903;regulation of establishment of T cell polarity;IMP|GO:1903906;regulation of plasma membrane raft polarization;IMP|GO:1903909;regulation of receptor clustering;IMP|GO:1903923;positive regulation of protein processing in phagocytic vesicle;ISS|GO:1990000;amyloid fibril formation;IMP|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0001726;ruffle;IEA|GO:0002102;podosome;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016528;sarcoplasm;IDA|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003779;actin binding;IDA|GO:0005509;calcium ion binding;IMP|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0045159;myosin II binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSN	https://www.uniprot.org/uniprot/P06396	https://hpo.jax.org/app/browse/search?q=GSN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137350	http://www.informatics.jax.org/searchtool/Search.do?query=GSN&submit=Quick%0D%9081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSN	rs306769	0.905351	0.8362	0.8689	1	0	0	intronic	intronic	intronic	GSN	GSN	ENSG00000148180	Na	Na	Na	Na	Na	Na	Het;T>C	196;8|9	Hom;T>C	811;0|28
N	N	-	9	124091135	124091135	G	A	snp	intronic	 	 	 	 	GSN	Gsn	ENSG00000148180	gelsolin	chr9:123970072-124095121	The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder	Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system.  In addition, there are background related effects on viability and mammary gland development.	Amyloid fiber formation	GO:0006911;phagocytosis, engulfment;ISS|GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0008154;actin polymerization or depolymerization;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014003;oligodendrocyte development;IEA|GO:0014891;striated muscle atrophy;IMP|GO:0016192;vesicle-mediated transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030041;actin filament polymerization;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0031648;protein destabilization;IMP|GO:0042060;wound healing;IEA|GO:0042246;tissue regeneration;IEA|GO:0042989;sequestering of actin monomers;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045010;actin nucleation;IEA|GO:0045471;response to ethanol;IEA|GO:0046597;negative regulation of viral entry into host cell;IMP|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051014;actin filament severing;IDA|GO:0051016;barbed-end actin filament capping;TAS|GO:0051127;positive regulation of actin nucleation;IMP|GO:0051593;response to folic acid;IEA|GO:0051693;actin filament capping;IEA|GO:0060271;cilium assembly;IMP|GO:0071276;cellular response to cadmium ion;IEA|GO:0071801;regulation of podosome assembly;IMP|GO:0090527;actin filament reorganization;IGI|GO:0097017;renal protein absorption;IMP|GO:0097284;hepatocyte apoptotic process;IMP|GO:1902174;positive regulation of keratinocyte apoptotic process;IMP|GO:1903689;regulation of wound healing, spreading of epidermal cells;IGI|GO:1903903;regulation of establishment of T cell polarity;IMP|GO:1903906;regulation of plasma membrane raft polarization;IMP|GO:1903909;regulation of receptor clustering;IMP|GO:1903923;positive regulation of protein processing in phagocytic vesicle;ISS|GO:1990000;amyloid fibril formation;IMP|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0001726;ruffle;IEA|GO:0002102;podosome;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016528;sarcoplasm;IDA|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003779;actin binding;IDA|GO:0005509;calcium ion binding;IMP|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0045159;myosin II binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSN	https://www.uniprot.org/uniprot/P06396	https://hpo.jax.org/app/browse/search?q=GSN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137350	http://www.informatics.jax.org/searchtool/Search.do?query=GSN&submit=Quick%0D%9081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSN	rs306771	0.870008	0.7877	0.8350	1	0	0	intronic	intronic	intronic	GSN	GSN	ENSG00000148180	Na	Na	Na	Na	Na	Na	Het;G>A	774;49|39	Hom;G>A	2160;0|82
N	N	-	9	124101563	124101563	C	T	snp	UTR3	*1917G>A	 	 	 	STOM	Stom	ENSG00000148175	stomatin	chr9:124101355-124132531	This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]	Cleft Lip|Cleft Palate; Iron; Bilirubin	Homozygotes for a targeted null mutation lack the protein but appear phenotypically normal.	Neutrophil degranulation	GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044829;positive regulation by host of viral genome replication;IEA|GO:0048524;positive regulation of viral process;IEA|GO:0051260;protein homooligomerization;IDA|GO:0090314;positive regulation of protein targeting to membrane;IEA|GO:1901585;regulation of acid-sensing ion channel activity;IEA	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0042470;melanosome;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0072562;blood microparticle;IDA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070063;RNA polymerase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STOM	https://www.uniprot.org/uniprot/P27105		https://www.ncbi.nlm.nih.gov/omim/?term=133090	http://www.informatics.jax.org/searchtool/Search.do?query=STOM&submit=Quick%0D%9080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STOM	rs442472	0.657548	0	0	1	0	0	UTR3	UTR3	UTR3	STOM(NM_004099:c.*1917G>A,NM_001270526:c.*2099G>A,NM_001270527:c.*336G>A,NM_198194:c.*1917G>A)	STOM(uc011lyk.3:c.*1917G>A,uc004blh.4:c.*1917G>A,uc031tew.1:c.*2099G>A,uc031tex.1:c.*381G>A,uc004bli.4:c.*1917G>A)	ENSG00000148175(ENST00000286713:c.*1917G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	1986;94|95	Hom;C>T	4339;0|159
N	N	-	9	124174857	124174857	A	G	snp	ncRNA_intronic	 	 	 	 	AL359644.1																		rs2043520	0.525958	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	STOM(dist=42275),GGTA1P(dist=42462)	STOM(dist=42275),NONE(dist=NONE)	ENSG00000227355	Na	Na	Na	Na	Na	Na	Het;A>G	716;12|29	Hom;A>G	1258;0|35
N	N	-	9	124282651	124282651	G	A	snp	ncRNA_exonic	 	 	 	 	HMGB1P37																		rs4077201	0.584065	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	GGTA1P(dist=20345),DAB2IP(dist=46730)	GGTA1P(dist=20345),DAB2IP(dist=46748)	ENSG00000213467	Na	Na	Na	Na	Na	Na	Het;G>A	47;4|4	Hom;G>A	58;0|3
N	N	-	9	124519214	124519214	A	G	snp	intronic	 	 	 	 	DAB2IP	Dab2ip	ENSG00000136848	DAB2 interacting protein	chr9:124329336-124547809	DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]	Aortic Aneurysm, Abdominal|Disease Susceptibility|Hypertension|Myocardial Infarction; Aortic Aneurysm, Abdominal; Phosphorus; prostate cancer	Mice homozygous for a knock-out allele exhibit impaired IRE1-mediated endoplasmic reticulum (ER) stress-induced responses. Mice homozygous for a gene trap allele exhibit delayed Purkinje cell dendritogenesis.	Signaling by RAS mutants	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000165;MAPK cascade;TAS|GO:0000185;activation of MAPKKK activity;IDA|GO:0001525;angiogenesis;IEA|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006986;response to unfolded protein;IEA|GO:0006987;activation of signaling protein activity involved in unfolded protein response;TAS|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;IEA|GO:0007252;I-kappaB phosphorylation;ISS|GO:0007257;activation of JUN kinase activity;IDA|GO:0007275;multicellular organism development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0016525;negative regulation of angiogenesis;IEA|GO:0021814;cell motility involved in cerebral cortex radial glia guided migration;ISS|GO:0021819;layer formation in cerebral cortex;ISS|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0034144;negative regulation of toll-like receptor 4 signaling pathway;IDA|GO:0034260;negative regulation of GTPase activity;IMP|GO:0035148;tube formation;IMP|GO:0035414;negative regulation of catenin import into nucleus;ISS|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0036324;vascular endothelial growth factor receptor-2 signaling pathway;ISS|GO:0038026;reelin-mediated signaling pathway;IEA|GO:0040008;regulation of growth;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;ISS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043254;regulation of protein complex assembly;IDA|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043497;regulation of protein heterodimerization activity;IDA|GO:0043507;positive regulation of JUN kinase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043553;negative regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0044257;cellular protein catabolic process;IDA|GO:0045087;innate immune response;IEA|GO:0045732;positive regulation of protein catabolic process;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0046580;negative regulation of Ras protein signal transduction;IC|GO:0048147;negative regulation of fibroblast proliferation;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IMP|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070317;negative regulation of G0 to G1 transition;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA|GO:0071158;positive regulation of cell cycle arrest;IDA|GO:0071222;cellular response to lipopolysaccharide;IDA|GO:0071347;cellular response to interleukin-1;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071364;cellular response to epidermal growth factor stimulus;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0072577;endothelial cell apoptotic process;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0090129;positive regulation of synapse maturation;ISS|GO:1900006;positive regulation of dendrite development;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;ISS|GO:1901800;positive regulation of proteasomal protein catabolic process;IMP|GO:1903363;negative regulation of cellular protein catabolic process;IDA|GO:1903896;positive regulation of IRE1-mediated unfolded protein response;TAS|GO:2001224;positive regulation of neuron migration;ISS|GO:2001235;positive regulation of apoptotic signaling pathway;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030424;axon;ISS|GO:0030425;dendrite;IEA|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;IBA|GO:0032809;neuronal cell body membrane;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0044300;cerebellar mossy fiber;ISS|GO:0044301;climbing fiber;ISS|GO:0070062;extracellular exosome;IDA|GO:1990032;parallel fiber;ISS|GO:1990597;AIP1-IRE1 complex;IDA	GO:0005096;GTPase activator activity;IEA|GO:0005123;death receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IDA|GO:0019900;kinase binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0031434;mitogen-activated protein kinase kinase binding;IPI|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IPI|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0032403;protein complex binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043184;vascular endothelial growth factor receptor 2 binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IDA|GO:0045296;cadherin binding;IDA|GO:0051721;protein phosphatase 2A binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA|GO:0071889;14-3-3 protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DAB2IP	https://www.uniprot.org/uniprot/Q5VWQ8		https://www.ncbi.nlm.nih.gov/omim/?term=609205	http://www.informatics.jax.org/searchtool/Search.do?query=DAB2IP&submit=Quick%0D%7415ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAB2IP	rs55835505	0.338658	0	0	1	0	0	intronic	intronic	intronic	DAB2IP	DAB2IP	ENSG00000136848	Na	Na	Na	Na	Na	Na	Het;A>G	259;27|14	Hom;A>G	971;0|33
N	N	-	9	125002218	125002218	G	C	snp	UTR3	*1945C>G	 	 	 	RBM18	Rbm18	ENSG00000119446	RNA binding motif protein 18	chr9:124999903-125027118		Tobacco Use Disorder; Eosinophils	 				GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM18	https://www.uniprot.org/uniprot/Q96H35			http://www.informatics.jax.org/searchtool/Search.do?query=RBM18&submit=Quick%0D%5064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM18	rs10818654	0.276358	0	0	1	0	0	UTR3	UTR3	UTR3	RBM18(NM_033117:c.*1945C>G)	RBM18(uc004bma.2:c.*1945C>G)	ENSG00000119446(ENST00000417201:c.*1945C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	1988;140|95	Hom;G>C	5847;0|204
N	N	-	9	125002275	125002275	T	C	snp	UTR3	*1888A>G	 	 	 	RBM18	Rbm18	ENSG00000119446	RNA binding motif protein 18	chr9:124999903-125027118		Tobacco Use Disorder; Eosinophils	 				GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM18	https://www.uniprot.org/uniprot/Q96H35			http://www.informatics.jax.org/searchtool/Search.do?query=RBM18&submit=Quick%0D%5064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM18	rs10818655	0.368411	0	0	1	0	0	UTR3	UTR3	UTR3	RBM18(NM_033117:c.*1888A>G)	RBM18(uc004bma.2:c.*1888A>G)	ENSG00000119446(ENST00000417201:c.*1888A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1944;103|91	Hom;T>C	4692;0|159
N	N	-	9	125003751	125003751	T	C	snp	UTR3	*412A>G	 	 	 	RBM18	Rbm18	ENSG00000119446	RNA binding motif protein 18	chr9:124999903-125027118		Tobacco Use Disorder; Eosinophils	 				GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM18	https://www.uniprot.org/uniprot/Q96H35			http://www.informatics.jax.org/searchtool/Search.do?query=RBM18&submit=Quick%0D%5064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM18	rs10739606	0.28095	0	0	1	0	0	UTR3	UTR3	UTR3	RBM18(NM_033117:c.*412A>G)	RBM18(uc004bma.2:c.*412A>G)	ENSG00000119446(ENST00000417201:c.*412A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	1476;49|59	Hom;T>C	3022;0|101
N	N	-	9	125016543	125016543	G	A	snp	intronic	 	 	 	 	RBM18	Rbm18	ENSG00000119446	RNA binding motif protein 18	chr9:124999903-125027118		Tobacco Use Disorder; Eosinophils	 				GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM18	https://www.uniprot.org/uniprot/Q96H35			http://www.informatics.jax.org/searchtool/Search.do?query=RBM18&submit=Quick%0D%5064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM18	rs10818664	0.260583	0	0	1	0	0	intronic	intronic	intronic	RBM18	RBM18	ENSG00000119446	Na	Na	Na	Na	Na	Na	Het;G>A	727;70|42	Hom;G>A	2237;0|84
N	N	-	9	12520501	12520501	G	A	snp	intergenic	 	 	 	 	RNU2-47P																		rs7866100	0.741414	0	0	1	0	0	intergenic	intergenic	intergenic	PTPRD-AS2(dist=1900081),TYRP1(dist=172885)	JB175300(dist=766448),TYRP1(dist=172885)	ENSG00000222581(dist=220050),ENSG00000107165(dist=164938)	Na	Na	Na	Na	Na	Na	Het;G>A	520;25|24	Hom;G>A	1559;0|60
N	N	-	9	12520559	12520559	G	T	snp	intergenic	 	 	 	 	RNU2-47P																		rs7866120	0.155152	0	0	1	0	0	intergenic	intergenic	intergenic	PTPRD-AS2(dist=1900139),TYRP1(dist=172827)	JB175300(dist=766506),TYRP1(dist=172827)	ENSG00000222581(dist=220108),ENSG00000107165(dist=164880)	Na	Na	Na	Na	Na	Na	Het;G>T	163;7|7	Hom;G>T	399;0|14
N	N	-	9	125391409	125391409	A	G	snp	synonymous SNV	T406C	L136L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR1B1	Olfr362	ENSG00000280094	olfactory receptor family 1 subfamily B member 1 (gene/pseudogene)	chr9:125390858-125391852	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR1B1				http://www.informatics.jax.org/searchtool/Search.do?query=OR1B1&submit=Quick%0D%22197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1B1	rs1536928	0.410144	0.4757	0.4583	1	0	0	exonic	exonic	exonic	OR1B1	OR1B1	ENSG00000171484	synonymous SNV	synonymous SNV	unknown	OR1B1:NM_001004450:exon1:c.T406C:p.L136L,	OR1B1:uc011lyz.2:exon1:c.T406C:p.L136L,	UNKNOWN	Het;A>G	1170;63|49	Hom;A>G	3680;3|126
N	N	-	9	125391770	125391770	C	CA	indel	frameshift substitution	45_45delinsTG	 	 	 	OR1B1	Olfr362	ENSG00000280094	olfactory receptor family 1 subfamily B member 1 (gene/pseudogene)	chr9:125390858-125391852	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR1B1				http://www.informatics.jax.org/searchtool/Search.do?query=OR1B1&submit=Quick%0D%22197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1B1	rs11421222	0.408546	0.4754	0.4605	1	0	0	exonic	exonic	exonic	OR1B1	OR1B1	ENSG00000171484	frameshift substitution	frameshift substitution	unknown	OR1B1:NM_001004450:exon1:c.45_45delinsTG,	OR1B1:uc011lyz.2:exon1:c.45_45delinsTG,	UNKNOWN	Het;+A	786;56|38	Hom;+A	2931;0|101
N	N	-	9	125673051	125673051	T	G	snp	UTR3	*26A>C	 	 	 	ZBTB6	Zbtb6	ENSG00000186130	zinc finger and BTB domain containing 6	chr9:125670335-125675609			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;TAS|GO:0005739;mitochondrion;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZBTB6			https://www.ncbi.nlm.nih.gov/omim/?term=605976	http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB6&submit=Quick%0D%15575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB6	rs1147321	0.59385	0.7486	0.7681	1	0	0	UTR3	UTR3	UTR3	ZBTB6(NM_006626:c.*26A>C)	ZBTB6(uc004bnh.4:c.*26A>C)	ENSG00000186130(ENST00000373659:c.*26A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	318;14|18	Hom;T>G	590;0|20
N	N	-	9	125747038	125747038	G	T	snp	intronic	 	 	 	 	RABGAP1	Rabgap1	ENSG00000011454	RAB GTPase activating protein 1	chr9:125703112-125867145		Tobacco Use Disorder	 	TBC/RABGAPs	GO:0006886;intracellular protein transport;IBA|GO:0007049;cell cycle;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0090630;activation of GTPase activity;IBA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005875;microtubule associated complex;TAS|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;TAS|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RABGAP1	https://www.uniprot.org/uniprot/Q9Y3P9		https://www.ncbi.nlm.nih.gov/omim/?term=615882	http://www.informatics.jax.org/searchtool/Search.do?query=RABGAP1&submit=Quick%0D%561ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGAP1	rs614274	0.494609	0.6307	0.7315	1	0	0	intronic	intronic	intronic	RABGAP1	RABGAP1	ENSG00000011454	Na	Na	Na	Na	Na	Na	Het;G>T	371;28|17	Hom;G>T	941;0|32
N	N	-	9	125748867	125748867	G	C	snp	intronic	 	 	 	 	RABGAP1	Rabgap1	ENSG00000011454	RAB GTPase activating protein 1	chr9:125703112-125867145		Tobacco Use Disorder	 	TBC/RABGAPs	GO:0006886;intracellular protein transport;IBA|GO:0007049;cell cycle;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0090630;activation of GTPase activity;IBA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005875;microtubule associated complex;TAS|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;TAS|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RABGAP1	https://www.uniprot.org/uniprot/Q9Y3P9		https://www.ncbi.nlm.nih.gov/omim/?term=615882	http://www.informatics.jax.org/searchtool/Search.do?query=RABGAP1&submit=Quick%0D%561ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGAP1	rs676805	0.495208	0	0	1	0	0	intronic	intronic	intronic	RABGAP1	RABGAP1	ENSG00000011454	Na	Na	Na	Na	Na	Na	Het;G>C	63;3|3	Hom;G>C	119;0|5
N	N	-	9	125760863	125760863	T	C	snp	intronic	 	 	 	 	RABGAP1	Rabgap1	ENSG00000011454	RAB GTPase activating protein 1	chr9:125703112-125867145		Tobacco Use Disorder	 	TBC/RABGAPs	GO:0006886;intracellular protein transport;IBA|GO:0007049;cell cycle;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0090630;activation of GTPase activity;IBA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005875;microtubule associated complex;TAS|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;TAS|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RABGAP1	https://www.uniprot.org/uniprot/Q9Y3P9		https://www.ncbi.nlm.nih.gov/omim/?term=615882	http://www.informatics.jax.org/searchtool/Search.do?query=RABGAP1&submit=Quick%0D%561ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGAP1	rs587364	0.492013	0.6302	0.7241	1	0	0	intronic	intronic	intronic	RABGAP1	RABGAP1	ENSG00000011454	Na	Na	Na	Na	Na	Na	Het;T>C	449;9|18	Hom;T>C	1075;0|38
N	N	-	9	125884227	125884231	TACAC	T	indel	UTR3	*3649_*3645delinsA	 	 	 	STRBP	Strbp	ENSG00000165209	spermatid perinuclear RNA binding protein	chr9:125871779-126030855		Lipoproteins; Iron	Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex.  Minor brain abnormalities and spermatogenesis defects were also noted.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0015630;microtubule cytoskeleton;IEA	GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0003727;single-stranded RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STRBP			https://www.ncbi.nlm.nih.gov/omim/?term=611138	http://www.informatics.jax.org/searchtool/Search.do?query=STRBP&submit=Quick%0D%11496ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STRBP	rs55960341	0	0	0	1	0	0	UTR3	UTR3	UTR3	STRBP(NM_018387:c.*3649_*3645delinsA,NM_001171137:c.*3649_*3645delinsA)	STRBP(uc004bnt.3:c.*3649_*3645delinsA,uc004bnu.3:c.*3649_*3645delinsA,uc004bns.3:c.*3649_*3645delinsA,uc004bnv.3:c.*3649_*3645delinsA)	ENSG00000165209(ENST00000447404:c.*3649_*3645delinsA)	Na	Na	Na	Na	Na	Na	Het;-ACAC	1648;42|45	Hom;-ACAC	3729;0|88
N	N	-	9	125920376	125920376	G	A	snp	synonymous SNV	C414T	G138G	aliphatic,neutral	aliphatic,neutral	STRBP	Strbp	ENSG00000165209	spermatid perinuclear RNA binding protein	chr9:125871779-126030855		Lipoproteins; Iron	Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex.  Minor brain abnormalities and spermatogenesis defects were also noted.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0015630;microtubule cytoskeleton;IEA	GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0003727;single-stranded RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STRBP			https://www.ncbi.nlm.nih.gov/omim/?term=611138	http://www.informatics.jax.org/searchtool/Search.do?query=STRBP&submit=Quick%0D%11496ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STRBP	rs803736	0.483027	0.6279	0.7131	1	0	0	exonic	exonic	exonic	STRBP	STRBP	ENSG00000165209	synonymous SNV	synonymous SNV	unknown	STRBP:NM_001171137:exon11:c.C918T:p.G306G,STRBP:NM_018387:exon11:c.C960T:p.G320G,	STRBP:uc004bnt.3:exon11:c.C414T:p.G138G,STRBP:uc004bnv.3:exon10:c.C960T:p.G320G,STRBP:uc004bnu.3:exon11:c.C918T:p.G306G,STRBP:uc004bns.3:exon11:c.C960T:p.G320G,	UNKNOWN	Het;G>A	1215;51|55	Hom;G>A	2921;0|105
N	N	-	9	126146197	126146197	C	G	snp	intronic	 	 	 	 	DENND1A	Dennd1a	ENSG00000119522	DENN domain containing 1A	chr9:126141933-126692431	Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]	Type 2 Diabetes| edema | rosiglitazone; Personality; Cleft Lip|Cleft Palate; Polycystic Ovary Syndrome; Coronary Disease	Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis, small brain size due to reduced proliferation, delayed PGC migration, and impaired hepatic cell proliferation, the differentiation of hepatocyte, and hepatic hematopoiesis.	RAB GEFs exchange GTP for GDP on RABs	GO:0006810;transport;IEA|GO:0006897;endocytosis;IMP|GO:0015031;protein transport;IEA|GO:0032456;endocytic recycling;IEA|GO:0032483;regulation of Rab protein signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048488;synaptic vesicle endocytosis;IEA|GO:0061024;membrane organization;TAS	GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030425;dendrite;IEA|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008289;lipid binding;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017124;SH3 domain binding;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:1901981;phosphatidylinositol phosphate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DENND1A	https://www.uniprot.org/uniprot/Q8TEH3		https://www.ncbi.nlm.nih.gov/omim/?term=613633	http://www.informatics.jax.org/searchtool/Search.do?query=DENND1A&submit=Quick%0D%5071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND1A	rs2808411	0.88738	0.8856	0.8919	1	0	0	intronic	intronic	intronic	DENND1A	DENND1A	ENSG00000119522	Na	Na	Na	Na	Na	Na	Het;C>G	142;25|9	Hom;C>G	1660;0|57
N	N	-	9	12709474	12709478	ATAAG	A	indel	UTR3	*292_*296delinsA	 	 	 	TYRP1	Tyrp1	ENSG00000107165	tyrosinase related protein 1	chr9:12685439-12710290	This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]	Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Basal Cell|Melanoma|Neoplasm Metastasis|Skin Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Celiac Disease|; Albinism, Oculocutaneous; melanoma; Diabetic Nephropathies; oculocutaneous albinism; Melanoma; Blue vs green eyes; glaucoma	The major influence of mutations at this locus is to change eumelanin from a black to a brown pigment in the coat and eyes in varying degrees. Semidominant mutants result in melanocyte degeneration causing reduced pigmentation and progressive hearing loss.	Melanin biosynthesis	GO:0006582;melanin metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0032438;melanosome organization;IEA|GO:0042438;melanin biosynthetic process;IEA|GO:0043438;acetoacetic acid metabolic process;IEA|GO:0043473;pigmentation;IEA|GO:0048023;positive regulation of melanin biosynthetic process;IMP|GO:0055114;oxidation-reduction process;IEA	GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;IDA|GO:0033162;melanosome membrane;IEA|GO:0042470;melanosome;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0016716;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TYRP1	https://www.uniprot.org/uniprot/P17643	https://hpo.jax.org/app/browse/search?q=TYRP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=115501	http://www.informatics.jax.org/searchtool/Search.do?query=TYRP1&submit=Quick%0D%3583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TYRP1	rs35237346	0.861821	0	0	1	0	0	ncRNA_intronic	UTR3	ncRNA_intronic	LURAP1L-AS1	TYRP1(uc003zkv.4:c.*292_*296delinsA)	ENSG00000235448	Na	Na	Na	Na	Na	Na	Het;-TAAG	653;22|18	Hom;-TAAG	999;0|23
N	N	-	9	127563364	127563364	G	A	snp	intronic	 	 	 	 	OLFML2A	Olfml2a	ENSG00000185585	olfactomedin like 2A	chr9:127539437-127577164			 		GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA	GO:0042803;protein homodimerization activity;IEA|GO:0050840;extracellular matrix binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OLFML2A			https://www.ncbi.nlm.nih.gov/omim/?term=615899	http://www.informatics.jax.org/searchtool/Search.do?query=OLFML2A&submit=Quick%0D%15441ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OLFML2A	rs913231	0.838458	0.7562	0.7897	1	0	0	intronic	intronic	intronic	OLFML2A	OLFML2A	ENSG00000185585	Na	Na	Na	Na	Na	Na	Het;G>A	543;39|28	Hom;G>A	1269;0|48
N	N	-	9	12759807	12759807	A	C	snp	ncRNA_intronic	 	 	 	 	LURAP1L-AS1																		rs562368150	0.0613019	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LURAP1L-AS1	TYRP1(dist=49541),LURAP1L(dist=15205)	ENSG00000235448	Na	Na	Na	Na	Na	Na	Het;A>C	160;2|5	Hom;A>C	132;0|3
N	N	-	9	128990287	128990287	G	A	snp	intergenic	 	 	 	 	AL589923.1																		rs12005670	0.447284	0	0	1	0	0	intergenic	intergenic	intergenic	PBX3(dist=260632),LOC101929116(dist=42116)	PBX3(dist=260632),BC031239(dist=42116)	ENSG00000232413(dist=68395),ENSG00000228392(dist=42113)	Na	Na	Na	Na	Na	Na	Het;G>A	67;6|4	Hom;G>A	526;0|21
N	N	-	9	129037975	129037975	C	T	snp	ncRNA_intronic	 	 	 	 	BC031239																		rs1888157	0.507788	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101929116	BC031239	ENSG00000228392	Na	Na	Na	Na	Na	Na	Het;C>T	55;4|3	Hom;C>T	244;0|8
N	N	-	9	129315422	129315422	G	A	snp	intergenic	 	 	 	 	MIR1302-7																		rs7031847	0.421725	0	0	1	0	0	intergenic	intergenic	intergenic	MVB12B(dist=46102),LMX1B(dist=61300)	Mir_1302(dist=22174),LMX1B(dist=61300)	ENSG00000221768(dist=22152),ENSG00000221173(dist=23387)	Na	Na	Na	Na	Na	Na	Het;G>A	49;6|3	Hom;G>A	237;0|8
N	N	-	9	130854461	130854463	TCA	T	indel	ncRNA_intronic	 	 	 	 	AL360268.1																		rs34182859	0.197684	0	0	1	0	0	intronic	intronic	ncRNA_intronic	SLC25A25	SLC25A25	ENSG00000230536	Na	Na	Na	Na	Na	Na	Het;-CA	110;7|4	Hom;-CA	589;2|21
N	N	-	9	130868291	130868291	C	G	snp	intronic	 	 	 	 	SLC25A25	Slc25a25	ENSG00000148339	solute carrier family 25 member 25	chr9:130830480-130871524	The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]	Acquired Immunodeficiency Syndrome|Disease Progression; Cleft Lip|Cleft Palate	Mice homozygous for a knock-out allele exhibit reduced physical endurance and metabolic efficiency.		GO:0002021;response to dietary excess;IEA|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0014823;response to activity;IEA|GO:0015866;ADP transport;IEA|GO:0015867;ATP transport;IEA|GO:0032094;response to food;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043010;camera-type eye development;IEA|GO:0045333;cellular respiration;IEA|GO:0046034;ATP metabolic process;IEA|GO:0055085;transmembrane transport;IEA|GO:0060612;adipose tissue development;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005347;ATP transmembrane transporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0015217;ADP transmembrane transporter activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A25	https://www.uniprot.org/uniprot/Q6KCM7		https://www.ncbi.nlm.nih.gov/omim/?term=608745	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A25&submit=Quick%0D%9103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A25	rs11792369	0.179513	0	0	1	0	0	intronic	intronic	intronic	SLC25A25	SLC25A25	ENSG00000148339	Na	Na	Na	Na	Na	Na	Het;C>G	104;9|5	Hom;C>G	356;0|11
N	N	-	9	130870087	130870087	C	T	snp	UTR3	*364C>T	 	 	 	SLC25A25	Slc25a25	ENSG00000148339	solute carrier family 25 member 25	chr9:130830480-130871524	The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]	Acquired Immunodeficiency Syndrome|Disease Progression; Cleft Lip|Cleft Palate	Mice homozygous for a knock-out allele exhibit reduced physical endurance and metabolic efficiency.		GO:0002021;response to dietary excess;IEA|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0014823;response to activity;IEA|GO:0015866;ADP transport;IEA|GO:0015867;ATP transport;IEA|GO:0032094;response to food;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043010;camera-type eye development;IEA|GO:0045333;cellular respiration;IEA|GO:0046034;ATP metabolic process;IEA|GO:0055085;transmembrane transport;IEA|GO:0060612;adipose tissue development;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005347;ATP transmembrane transporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0015217;ADP transmembrane transporter activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A25	https://www.uniprot.org/uniprot/Q6KCM7		https://www.ncbi.nlm.nih.gov/omim/?term=608745	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A25&submit=Quick%0D%9103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A25	rs10987876	0.179513	0	0	1	0	0	UTR3	UTR3	UTR3	SLC25A25(NM_001006641:c.*364C>T,NM_001265614:c.*364C>T,NM_001006642:c.*364C>T,NM_052901:c.*364C>T)	SLC25A25(uc004btb.4:c.*364C>T,uc004btd.4:c.*364C>T,uc004btc.4:c.*364C>T,uc004bte.4:c.*364C>T,uc004btf.4:c.*364C>T)	ENSG00000148339(ENST00000373068:c.*364C>T,ENST00000373069:c.*364C>T,ENST00000432073:c.*364C>T,ENST00000373066:c.*364C>T,ENST00000373064:c.*364C>T,ENST00000433501:c.*364C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	1691;58|81	Hom;C>T	3982;1|150
N	N	-	9	130876356	130876356	A	G	snp	ncRNA_exonic	 	 	 	 	SLC25A25-AS1																		rs4836607	0.209864	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SLC25A25-AS1	LOC100289019	ENSG00000234771	Na	Na	Na	Na	Na	Na	Het;A>G	1067;58|54	Hom;A>G	2548;1|94
N	N	-	9	130877541	130877541	C	T	snp	ncRNA_exonic	 	 	 	 	SLC25A25-AS1																		rs10819364	0.181909	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SLC25A25-AS1	LOC100289019	ENSG00000234771	Na	Na	Na	Na	Na	Na	Het;C>T	336;31|20	Hom;C>T	1201;2|49
N	N	-	9	130881092	130881092	G	A	snp	upstream	 	 	 	 	LOC100289019																		rs35631288	0	0	0	1	0	0	upstream	upstream	upstream	SLC25A25-AS1	LOC100289019	ENSG00000234771	Na	Na	Na	Na	Na	Na	Het;G>A	413;2|12	Hom;G>A	174;0|7
N	N	-	9	130887856	130887856	C	T	snp	intronic	 	 	 	 	PTGES2	Ptges2	ENSG00000148334	prostaglandin E synthase 2	chr9:130882972-130890741	The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Acquired Immunodeficiency Syndrome|Disease Progression; Diabetes Mellitus, Type 2|; diabetes, type 2; patent ductus arteriosus; epithelial ovarian cancer 	Mice homozygous for a knock-out allele exhibit normal basal prostaglandin E2 (PGE2) protein levels in the lactating mammary gland. Mice homozygous for a different knock-out allele exhibit increased sensitivity to IgE antigen-dependent passive cutaneous anaphylaxis.	Neutrophil degranulation	GO:0001516;prostaglandin biosynthetic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0019371;cyclooxygenase pathway;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046903;secretion;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0016829;lyase activity;ISS|GO:0016853;isomerase activity;IEA|GO:0020037;heme binding;ISS|GO:0043295;glutathione binding;ISS|GO:0050220;prostaglandin-E synthase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PTGES2	https://www.uniprot.org/uniprot/Q9H7Z7		https://www.ncbi.nlm.nih.gov/omim/?term=608152	http://www.informatics.jax.org/searchtool/Search.do?query=PTGES2&submit=Quick%0D%9100ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGES2	rs884115	0.296725	0	0	1	0	0	intronic	intronic	intronic	PTGES2	PTGES2	ENSG00000148334	Na	Na	Na	Na	Na	Na	Het;C>T	129;4|7	Hom;C>T	355;0|12
N	N	-	9	130890783	130890783	A	C	snp	upstream	 	 	 	 	LOC389791																		rs3814525	0.183107	0	0.2200	1	0	0	upstream	upstream	intronic	PTGES2,PTGES2-AS1	LOC389791,PTGES2	ENSG00000232850	Na	Na	Na	Na	Na	Na	Het;A>C	355;10|15	Hom;A>C	482;1|20
N	N	-	9	130900818	130900818	G	A	snp	intergenic	 	 	 	 	PTGES2-AS1																		rs10819366	0.926118	0	0	1	0	0	intergenic	intergenic	intergenic	PTGES2-AS1(dist=7905),LCN2(dist=10914)	LOC389791(dist=7905),LCN2(dist=10914)	ENSG00000232850(dist=9337),ENSG00000148346(dist=10532)	Na	Na	Na	Na	Na	Na	Het;G>A	56;1|4	Hom;G>A	198;0|9
N	N	-	9	130940121	130940121	G	A	snp	intronic	 	 	 	 	CIZ1	Ciz1	ENSG00000148337	CDKN1A interacting zinc finger protein 1	chr9:130928343-130966662	The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]		Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes.		GO:0032298;positive regulation of DNA-dependent DNA replication initiation;IEA|GO:0051457;maintenance of protein location in nucleus;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0030332;cyclin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CIZ1	https://www.uniprot.org/uniprot/Q9ULV3	https://hpo.jax.org/app/browse/search?q=CIZ1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611420	http://www.informatics.jax.org/searchtool/Search.do?query=CIZ1&submit=Quick%0D%9102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CIZ1	rs4075428	0.827875	0	0	1	0	0	intronic	intronic	intronic	CIZ1	CIZ1	ENSG00000148337	Na	Na	Na	Na	Na	Na	Het;G>A	45;12|4	Hom;G>A	584;0|20
N	N	-	9	130940822	130940822	C	T	snp	intronic	 	 	 	 	CIZ1	Ciz1	ENSG00000148337	CDKN1A interacting zinc finger protein 1	chr9:130928343-130966662	The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]		Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes.		GO:0032298;positive regulation of DNA-dependent DNA replication initiation;IEA|GO:0051457;maintenance of protein location in nucleus;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0030332;cyclin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CIZ1	https://www.uniprot.org/uniprot/Q9ULV3	https://hpo.jax.org/app/browse/search?q=CIZ1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611420	http://www.informatics.jax.org/searchtool/Search.do?query=CIZ1&submit=Quick%0D%9102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CIZ1	rs3892074	0.6873	0	0	1	0	0	intronic	intronic	intronic	CIZ1	CIZ1	ENSG00000148337	Na	Na	Na	Na	Na	Na	Het;C>T	392;23|17	Hom;C>T	631;0|22
N	N	-	9	130942972	130942972	T	C	snp	intronic	 	 	 	 	CIZ1	Ciz1	ENSG00000148337	CDKN1A interacting zinc finger protein 1	chr9:130928343-130966662	The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]		Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes.		GO:0032298;positive regulation of DNA-dependent DNA replication initiation;IEA|GO:0051457;maintenance of protein location in nucleus;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0030332;cyclin binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CIZ1	https://www.uniprot.org/uniprot/Q9ULV3	https://hpo.jax.org/app/browse/search?q=CIZ1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611420	http://www.informatics.jax.org/searchtool/Search.do?query=CIZ1&submit=Quick%0D%9102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CIZ1	rs45585631	0.692692	0.5900	0.6878	1	0	0	intronic	intronic	intronic	CIZ1	CIZ1	ENSG00000148337	Na	Na	Na	Na	Na	Na	Het;T>C	323;12|14	Hom;T>C	709;0|24
N	N	-	9	131196334	131196334	G	A	snp	ncRNA_intronic	 	 	 	 	MIR1268A																		rs2072398	0.380591	0.3202	0.2628	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	CERCAM	ENSG00000167123	Na	Na	Na	Na	Na	Na	Het;G>A	932;32|25	Hom;G>A	2438;0|54
N	N	-	9	131196336	131196336	T	A	snp	ncRNA_intronic	 	 	 	 	MIR1268A																		rs2072397	0.380591	0.3222	0.2630	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	CERCAM	ENSG00000167123	Na	Na	Na	Na	Na	Na	Het;T>A	932;32|26	Hom;T>A	2438;0|55
N	N	-	9	131196695	131196695	C	T	snp	synonymous SNV	C1104T	L368L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CERCAM	Cercam	ENSG00000167123	cerebral endothelial cell adhesion molecule	chr9:131174030-131199626		Schizophrenia	 		GO:0006928;movement of cell or subcellular component;TAS|GO:0007155;cell adhesion;IDA|GO:0007159;leukocyte cell-cell adhesion;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005886;plasma membrane;NAS		http://www.genecards.org/index.php?path=/Search/keyword/CERCAM			https://www.ncbi.nlm.nih.gov/omim/?term=616626	http://www.informatics.jax.org/searchtool/Search.do?query=CERCAM&submit=Quick%0D%11956ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CERCAM	rs7258	0.294728	0.2407	0.2315	1	0	0	exonic	exonic	exonic	CERCAM	CERCAM	ENSG00000167123	synonymous SNV	synonymous SNV	unknown	CERCAM:NM_001286760:exon11:c.C1104T:p.L368L,CERCAM:NM_016174:exon11:c.C1338T:p.L446L,	CERCAM:uc004buy.1:exon12:c.C1104T:p.L368L,CERCAM:uc004buz.4:exon11:c.C1338T:p.L446L,CERCAM:uc010mxz.3:exon10:c.C1104T:p.L368L,CERCAM:uc010mya.1:exon8:c.C861T:p.L287L,	UNKNOWN	Het;C>T	1824;74|49	Hom;C>T	4276;0|95
N	N	-	9	131196704	131196704	G	A	snp	synonymous SNV	G1113A	K371K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CERCAM	Cercam	ENSG00000167123	cerebral endothelial cell adhesion molecule	chr9:131174030-131199626		Schizophrenia	 		GO:0006928;movement of cell or subcellular component;TAS|GO:0007155;cell adhesion;IDA|GO:0007159;leukocyte cell-cell adhesion;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005886;plasma membrane;NAS		http://www.genecards.org/index.php?path=/Search/keyword/CERCAM			https://www.ncbi.nlm.nih.gov/omim/?term=616626	http://www.informatics.jax.org/searchtool/Search.do?query=CERCAM&submit=Quick%0D%11956ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CERCAM	rs7259	0.376198	0.3248	0.2554	1	0	0	exonic	exonic	exonic	CERCAM	CERCAM	ENSG00000167123	synonymous SNV	synonymous SNV	unknown	CERCAM:NM_001286760:exon11:c.G1113A:p.K371K,CERCAM:NM_016174:exon11:c.G1347A:p.K449K,	CERCAM:uc004buy.1:exon12:c.G1113A:p.K371K,CERCAM:uc004buz.4:exon11:c.G1347A:p.K449K,CERCAM:uc010mxz.3:exon10:c.G1113A:p.K371K,CERCAM:uc010mya.1:exon8:c.G870A:p.K290K,	UNKNOWN	Het;G>A	1935;80|56	Hom;G>A	4301;0|101
N	N	-	9	131196905	131196907	TGG	T	indel	ncRNA_intronic	 	 	 	 	MIR1268A																		rs60807982	0.384984	0.3309	0.2574	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	CERCAM	ENSG00000167123	Na	Na	Na	Na	Na	Na	Het;-GG	1169;40|32	Hom;-GG	2204;4|54
N	N	-	9	131197896	131197896	G	A	snp	ncRNA_intronic	 	 	 	 	MIR1268A																		rs7040989	0.340455	0.2839	0.2647	1	0	0	ncRNA_intronic	intronic	intronic	MIR1268A	CERCAM	ENSG00000167123	Na	Na	Na	Na	Na	Na	Het;G>A	235;3|11	Hom;G>A	476;0|18
N	N	-	9	132113982	132113982	G	A	snp	ncRNA_intronic	 	 	 	 	LINC01503																		rs13295367	0.726438	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01503(dist=4226),LINC00963(dist=136957)	BC094873(dist=7073),LOC100506190(dist=131748)	ENSG00000233901	Na	Na	Na	Na	Na	Na	Het;G>A	34;1|3	Hom;G>A	108;0|5
N	N	-	9	132198631	132198631	T	C	snp	ncRNA_intronic	 	 	 	 	AL353803.2																		rs115220699	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01503(dist=88875),LINC00963(dist=52308)	BC094873(dist=91722),LOC100506190(dist=47099)	ENSG00000230676	Na	Na	Na	Na	Na	Na	Het;T>C	48;3|3	Hom;T>C	152;0|4
N	N	-	9	132198653	132198653	T	C	snp	ncRNA_intronic	 	 	 	 	AL353803.2																		rs796961122	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01503(dist=88897),LINC00963(dist=52286)	BC094873(dist=91744),LOC100506190(dist=47077)	ENSG00000230676	Na	Na	Na	Na	Na	Na	Het;T>C	92;2|3	Hom;T>C	152;0|4
N	N	-	9	132198660	132198660	T	A	snp	ncRNA_intronic	 	 	 	 	AL353803.2																		rs796139900	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01503(dist=88904),LINC00963(dist=52279)	BC094873(dist=91751),LOC100506190(dist=47070)	ENSG00000230676	Na	Na	Na	Na	Na	Na	Het;T>A	92;2|3	Hom;T>A	152;0|4
N	N	-	9	132198669	132198669	A	C	snp	ncRNA_intronic	 	 	 	 	AL353803.2																		rs796723613	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LINC01503(dist=88913),LINC00963(dist=52270)	BC094873(dist=91760),LOC100506190(dist=47061)	ENSG00000230676	Na	Na	Na	Na	Na	Na	Het;A>C	92;2|3	Hom;A>C	152;0|4
N	N	-	9	132412706	132412706	A	G	snp	intergenic	 	 	 	 	ASB6	Asb6	ENSG00000148331	ankyrin repeat and SOCS box containing 6	chr9:132399171-132404444	The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]	Hypertension	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ASB6	https://www.uniprot.org/uniprot/Q9NWX5		https://www.ncbi.nlm.nih.gov/omim/?term=615051	http://www.informatics.jax.org/searchtool/Search.do?query=ASB6&submit=Quick%0D%9099ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB6	rs4836665	0.809105	0	0	1	0	0	intergenic	intergenic	intergenic	ASB6(dist=8258),PRRX2(dist=15214)	ASB6(dist=8258),PRRX2(dist=15214)	ENSG00000148331(dist=8262),ENSG00000167157(dist=15214)	Na	Na	Na	Na	Na	Na	Het;A>G	168;5|9	Hom;A>G	185;0|8
N	N	-	9	132501881	132501881	A	C	snp	ncRNA_exonic	 	 	 	 	ENSG00000255824																		rs2302821	0.305112	0.1532	0.2192	1	0	0	UTR3	UTR3	ncRNA_exonic	PTGES(NM_004878:c.*9T>G)	PTGES(uc004byi.3:c.*9T>G)	ENSG00000255824	Na	Na	Na	Na	Na	Na	Het;A>C	262;31|14	Hom;A>C	1558;0|54
N	N	-	9	132845723	132845723	T	A	snp	intronic	 	 	 	 	GPR107	Gpr107	ENSG00000148358	G protein-coupled receptor 107	chr9:132815705-132902448			Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling.		GO:0072583;clathrin-dependent endocytosis;IEA	GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA	GO:0032050;clathrin heavy chain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPR107	https://www.uniprot.org/uniprot/Q5VW38			http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107	rs7855078	0.495407	0	0	1	0	0	intronic	intronic	intronic	GPR107	GPR107	ENSG00000148358	Na	Na	Na	Na	Na	Na	Het;T>A	225;4|8	Hom;T>A	125;0|4
N	N	-	9	132845986	132845986	T	C	snp	intronic	 	 	 	 	GPR107	Gpr107	ENSG00000148358	G protein-coupled receptor 107	chr9:132815705-132902448			Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling.		GO:0072583;clathrin-dependent endocytosis;IEA	GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA	GO:0032050;clathrin heavy chain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPR107	https://www.uniprot.org/uniprot/Q5VW38			http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107	rs10819597	0.639976	0	0	1	0	0	intronic	intronic	intronic	GPR107	GPR107	ENSG00000148358	Na	Na	Na	Na	Na	Na	Het;T>C	256;21|12	Hom;T>C	1026;0|35
N	N	-	9	132863035	132863035	G	C	snp	intronic	 	 	 	 	GPR107	Gpr107	ENSG00000148358	G protein-coupled receptor 107	chr9:132815705-132902448			Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling.		GO:0072583;clathrin-dependent endocytosis;IEA	GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA	GO:0032050;clathrin heavy chain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPR107	https://www.uniprot.org/uniprot/Q5VW38			http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107	rs2277196	0.640176	0.5865	0	1	0	0	intronic	intronic	intronic	GPR107	GPR107	ENSG00000148358	Na	Na	Na	Na	Na	Na	Het;G>C	613;26|30	Hom;G>C	1566;0|59
N	N	-	9	132891113	132891113	G	A	snp	UTR3	*1244G>A	 	 	 	GPR107	Gpr107	ENSG00000148358	G protein-coupled receptor 107	chr9:132815705-132902448			Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling.		GO:0072583;clathrin-dependent endocytosis;IEA	GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA	GO:0032050;clathrin heavy chain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPR107	https://www.uniprot.org/uniprot/Q5VW38			http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107	rs2286794	0.695687	0	0	1	0	0	UTR3	UTR3	UTR3	GPR107(NM_001287346:c.*69G>A)	GPR107(uc004bzb.2:c.*69G>A)	ENSG00000148358(ENST00000493417:c.*1244G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	543;16|23	Hom;G>A	2726;0|62
N	N	-	9	132897231	132897231	G	A	snp	intronic	 	 	 	 	GPR107	Gpr107	ENSG00000148358	G protein-coupled receptor 107	chr9:132815705-132902448			Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling.		GO:0072583;clathrin-dependent endocytosis;IEA	GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA	GO:0032050;clathrin heavy chain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPR107	https://www.uniprot.org/uniprot/Q5VW38			http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107	rs1003416	0.580871	0	0	1	0	0	intronic	intronic	intronic	GPR107	GPR107	ENSG00000148358	Na	Na	Na	Na	Na	Na	Het;G>A	253;1|10	Hom;G>A	256;0|9
N	N	-	9	133028155	133028155	G	A	snp	upstream	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs12336255	0.553714	0	0	1	0	0	upstream	intergenic	intergenic	HMCN2	NCS1(dist=28572),DKFZp434P0216(dist=232973)	ENSG00000107130(dist=28572),ENSG00000148357(dist=18727)	Na	Na	Na	Na	Na	Na	Het;G>A	215;6|10	Hom;G>A	618;0|20
N	N	-	9	133028196	133028196	G	A	snp	unknown	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs12336285	0.53135	0	0	1	0	0	exonic	intergenic	intergenic	HMCN2	NCS1(dist=28613),DKFZp434P0216(dist=232932)	ENSG00000107130(dist=28613),ENSG00000148357(dist=18686)	unknown	Na	Na	UNKNOWN	Na	Na	Het;G>A	873;14|23	Hom;G>A	2042;0|45
N	N	-	9	133028204	133028210	CGGCAGT	C	indel	unknown	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs140466453	0.561901	0	0	1	0	0	exonic	intergenic	intergenic	HMCN2	NCS1(dist=28621),DKFZp434P0216(dist=232918)	ENSG00000107130(dist=28621),ENSG00000148357(dist=18672)	unknown	Na	Na	UNKNOWN	Na	Na	Het;-GGCAGT	423;22|21	Hom;-GGCAGT	2157;0|51
N	N	-	9	133028476	133028476	A	AC	indel	intronic	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs71387337	0	0	0	1	0	0	intronic	intergenic	intergenic	HMCN2	NCS1(dist=28893),DKFZp434P0216(dist=232652)	ENSG00000107130(dist=28893),ENSG00000148357(dist=18406)	Na	Na	Na	Na	Na	Na	Het;+C	85;7|5	Hom;+C	122;0|5
N	N	-	9	133048501	133048501	G	A	snp	unknown	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs6478957	0.715655	0	0.5933	0.67	4	6	exonic	intergenic	exonic	HMCN2	NCS1(dist=48918),DKFZp434P0216(dist=212627)	ENSG00000148357	unknown	Na	unknown	UNKNOWN	Na	UNKNOWN	Het;G>A	2001;115|97	Hom;G>A	4565;1|176
N	N	-	9	133058082	133058082	G	A	snp	intronic	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs10739777	0.791334	0	0.7030	1	0	0	intronic	intergenic	intronic	HMCN2	NCS1(dist=58499),DKFZp434P0216(dist=203046)	ENSG00000148357	Na	Na	Na	Na	Na	Na	Het;G>A	1110;53|53	Hom;G>A	1926;0|73
N	N	-	9	133058197	133058197	C	A	snp	intronic	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs7045548	0.803914	0	0	1	0	0	intronic	intergenic	intronic	HMCN2	NCS1(dist=58614),DKFZp434P0216(dist=202931)	ENSG00000148357	Na	Na	Na	Na	Na	Na	Het;C>A	165;2|6	Hom;C>A	277;0|8
N	N	-	9	133241327	133241327	G	T	snp	unknown	 	 	 	 	HMCN2	Hmcn2	ENSG00000148357	hemicentin 2	chr9:133046882-133309510		Tobacco Use Disorder	 		GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HMCN2	https://www.uniprot.org/uniprot/Q8NDA2			http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2	rs4579578	0.45607	0	0	0.33	1	3	exonic	intergenic	intergenic	HMCN2	NCS1(dist=241744),DKFZp434P0216(dist=19801)	ENSG00000148357(dist=5481),ENSG00000148357(dist=18509)	unknown	Na	Na	UNKNOWN	Na	Na	Het;G>T	939;36|45	Hom;G>T	2124;0|78
N	N	-	9	133711045	133711050	CCTCTT	C	indel	intronic	 	 	 	 	ABL1	Abl1	ENSG00000097007	ABL proto-oncogene 1, non-receptor tyrosine kinase	chr9:133589333-133763062	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]	breast cancer; ovarian cancer; myeloid leukemia; Neutrophils; leukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Lymphocytes; clonal evolution of chronic myeloid leukemia; Alcoholism; Alzheimer's disease ; breast cancer ; Leukemia, Myeloid; HIV; esophageal adenocarcinoma	Mice homozygous for targeted mutations that inactivate the gene have increased perinatal and postnatal mortality and may display foreshortened crania, abnormal development of spleen, head, heart and eye, reduced B and T cell populations, and osteoporosis.	Factors involved in megakaryocyte development and platelet production	GO:0000278;mitotic cell cycle;TAS|GO:0001843;neural tube closure;IEA|GO:0001922;B-1 B cell homeostasis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002322;B cell proliferation involved in immune response;IEA|GO:0002333;transitional one stage B cell differentiation;IEA|GO:0006281;DNA repair;IEA|GO:0006298;mismatch repair;TAS|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006464;cellular protein modification process;NAS|GO:0006468;protein phosphorylation;IEA|GO:0006897;endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006979;response to oxidative stress;IGI|GO:0007050;cell cycle arrest;TAS|GO:0007155;cell adhesion;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;TAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021587;cerebellum morphogenesis;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030035;microspike assembly;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030100;regulation of endocytosis;TAS|GO:0030155;regulation of cell adhesion;TAS|GO:0030182;neuron differentiation;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030516;regulation of axon extension;IMP|GO:0031113;regulation of microtubule polymerization;IMP|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0033690;positive regulation of osteoblast proliferation;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042100;B cell proliferation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0045087;innate immune response;IBA|GO:0045184;establishment of protein localization;IMP|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045931;positive regulation of mitotic cell cycle;IEA|GO:0046632;alpha-beta T cell differentiation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048668;collateral sprouting;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050798;activated T cell proliferation;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051353;positive regulation of oxidoreductase activity;IDA|GO:0051444;negative regulation of ubiquitin-protein transferase activity;TAS|GO:0051726;regulation of cell cycle;IEA|GO:0051882;mitochondrial depolarization;TAS|GO:0060020;Bergmann glial cell differentiation;IEA|GO:0060563;neuroepithelial cell differentiation;IEA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IDA|GO:0072358;cardiovascular system development;IEA|GO:0090135;actin filament branching;IEA|GO:1900042;positive regulation of interleukin-2 secretion;IEA|GO:1900275;negative regulation of phospholipase C activity;IMP|GO:1901216;positive regulation of neuron death;IEA|GO:1902715;positive regulation of interferon-gamma secretion;IEA|GO:1903053;regulation of extracellular matrix organization;IEA|GO:1903351;cellular response to dopamine;TAS|GO:1904528;positive regulation of microtubule binding;IMP|GO:1904531;positive regulation of actin filament binding;IMP|GO:1990051;activation of protein kinase C activity;IDA|GO:2000096;positive regulation of Wnt signaling pathway, planar cell polarity pathway;IEA|GO:2000145;regulation of cell motility;TAS|GO:2000249;regulation of actin cytoskeleton reorganization;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;IEA|GO:2000772;regulation of cellular senescence;IEA|GO:2000773;negative regulation of cellular senescence;IEA|GO:2001020;regulation of response to DNA damage stimulus;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;NAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0030425;dendrite;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0031252;cell leading edge;IEA|GO:0031965;nuclear membrane;IEA|GO:0043025;neuronal cell body;IDA|GO:0043234;protein complex;IPI|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0098794;postsynapse;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001784;phosphotyrosine binding;IPI|GO:0003677;DNA binding;IEA|GO:0003785;actin monomer binding;TAS|GO:0004515;nicotinate-nucleotide adenylyltransferase activity;TAS|GO:0004672;protein kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0019905;syntaxin binding;IPI|GO:0030145;manganese ion binding;IDA|GO:0042169;SH2 domain binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046875;ephrin receptor binding;IEA|GO:0051015;actin filament binding;IEA|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0070064;proline-rich region binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABL1	https://www.uniprot.org/uniprot/P00519	https://hpo.jax.org/app/browse/search?q=ABL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=189980	http://www.informatics.jax.org/searchtool/Search.do?query=ABL1&submit=Quick%0D%2291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABL1	rs113276697	0.845647	0	0	1	0	0	intronic	intronic	intronic	ABL1	ABL1	ENSG00000097007	Na	Na	Na	Na	Na	Na	Het;-CTCTT	41;2|2	Hom;-CTCTT	234;0|6
N	N	-	9	133901819	133901819	C	A	snp	nonsynonymous SNV	C521A	P174H	hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	LAMC3	Lamc3	ENSG00000050555	laminin subunit gamma 3	chr9:133884469-133969860	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]	Hemoglobin A, Glycosylated; Type 2 Diabetes| edema | rosiglitazone; Heart Failure	Mice homozygous for a reporter allele exhibit abnormal amacrine cell morphology.	MET activates PTK2 signaling	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;IEA|GO:0014002;astrocyte development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0060041;retina development in camera-type eye;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005604;basement membrane;IEA|GO:0016020;membrane;TAS	GO:0005198;structural molecule activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMC3	https://www.uniprot.org/uniprot/Q9Y6N6	https://hpo.jax.org/app/browse/search?q=LAMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604349	http://www.informatics.jax.org/searchtool/Search.do?query=LAMC3&submit=Quick%0D%929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC3	rs2275137	0.320288	0.2840	0.2232	0.23	3	13	exonic	exonic	exonic	LAMC3	LAMC3	ENSG00000050555	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMC3:NM_006059:exon2:c.C521A:p.P174H,	LAMC3:uc004caa.1:exon2:c.C521A:p.P174H,	UNKNOWN	Het;C>A	2138;90|103	Hom;C>A	5737;0|161
N	N	-	9	134076950	134076950	C	CA	indel	intronic	 	 	 	 	NUP214	Nup214	ENSG00000126883	nucleoporin 214	chr9:134000948-134110057	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Tobacco Use Disorder	Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product.  In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export.	tRNA processing in the nucleus	GO:0000278;mitotic cell cycle;IEA|GO:0006405;RNA export from nucleus;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006611;protein export from nucleus;IMP|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0051028;mRNA transport;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS	GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044613;nuclear pore central transport channel;IBA|GO:0044615;nuclear pore nuclear basket;IBA|GO:1990876;cytoplasmic side of nuclear pore;IDA	GO:0005049;nuclear export signal receptor activity;IDA|GO:0005487;nucleocytoplasmic transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IEA|GO:0017056;structural constituent of nuclear pore;IBA	http://www.genecards.org/index.php?path=/Search/keyword/NUP214	https://www.uniprot.org/uniprot/P35658	https://hpo.jax.org/app/browse/search?q=NUP214&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=114350	http://www.informatics.jax.org/searchtool/Search.do?query=NUP214&submit=Quick%0D%5989ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP214	rs397808179	0.545927	0	0	1	0	0	intronic	intronic	intronic	NUP214	NUP214	ENSG00000126883	Na	Na	Na	Na	Na	Na	Het;+A	166;2|10	Hom;+A	158;1|8
N	N	-	9	135202829	135202829	T	C	snp	nonsynonymous SNV	A4156G	I1386V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SETX	Setx	ENSG00000107290	senataxin	chr9:135136743-135230372	This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Body Height; Lupus Erythematosus, Systemic; Multiple Sclerosis; Tobacco Use Disorder; longevity	Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility.		GO:0000165;MAPK cascade;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006369;termination of RNA polymerase II transcription;IEA|GO:0006376;mRNA splice site selection;IMP|GO:0006396;RNA processing;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033120;positive regulation of RNA splicing;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043491;protein kinase B signaling;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048511;rhythmic process;IEA|GO:0060566;positive regulation of DNA-templated transcription, termination;IMP|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071300;cellular response to retinoic acid;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2000806;positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;IMP	GO:0000228;nuclear chromosome;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0042995;cell projection;IEA|GO:0045171;intercellular bridge;IDA	GO:0000166;nucleotide binding;IEA|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IC|GO:0003678;DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SETX	https://www.uniprot.org/uniprot/Q7Z333	https://hpo.jax.org/app/browse/search?q=SETX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608465	http://www.informatics.jax.org/searchtool/Search.do?query=SETX&submit=Quick%0D%3596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETX	rs543573	0.55611	0.6938	0.7252	0.15	2	13	exonic	exonic	exonic	SETX	SETX	ENSG00000107290	nonsynonymous SNV	nonsynonymous SNV	unknown	SETX:NM_015046:exon10:c.A4156G:p.I1386V,	SETX:uc004cbk.3:exon10:c.A4156G:p.I1386V,SETX:uc004cbj.3:exon1:c.A3013G:p.I1005V,SETX:uc010mzt.3:exon1:c.A3013G:p.I1005V,	UNKNOWN	Het;T>C	2752;133|127	Hom;T>C	5699;0|203
N	N	-	9	135203231	135203231	C	T	snp	nonsynonymous SNV	G3754A	G1252R	aliphatic,neutral	polar,hydrophilic,charged(+)	SETX	Setx	ENSG00000107290	senataxin	chr9:135136743-135230372	This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Body Height; Lupus Erythematosus, Systemic; Multiple Sclerosis; Tobacco Use Disorder; longevity	Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility.		GO:0000165;MAPK cascade;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006369;termination of RNA polymerase II transcription;IEA|GO:0006376;mRNA splice site selection;IMP|GO:0006396;RNA processing;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033120;positive regulation of RNA splicing;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043491;protein kinase B signaling;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048511;rhythmic process;IEA|GO:0060566;positive regulation of DNA-templated transcription, termination;IMP|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071300;cellular response to retinoic acid;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2000806;positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;IMP	GO:0000228;nuclear chromosome;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0042995;cell projection;IEA|GO:0045171;intercellular bridge;IDA	GO:0000166;nucleotide binding;IEA|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IC|GO:0003678;DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SETX	https://www.uniprot.org/uniprot/Q7Z333	https://hpo.jax.org/app/browse/search?q=SETX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608465	http://www.informatics.jax.org/searchtool/Search.do?query=SETX&submit=Quick%0D%3596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETX	rs1183768	0.55611	0.6931	0.7251	0.38	5	13	exonic	exonic	exonic	SETX	SETX	ENSG00000107290	nonsynonymous SNV	nonsynonymous SNV	unknown	SETX:NM_015046:exon10:c.G3754A:p.G1252R,	SETX:uc004cbk.3:exon10:c.G3754A:p.G1252R,SETX:uc004cbj.3:exon1:c.G2611A:p.G871R,SETX:uc010mzt.3:exon1:c.G2611A:p.G871R,	UNKNOWN	Het;C>T	2263;107|104	Hom;C>T	6056;1|216
N	N	-	9	135203409	135203409	A	C	snp	nonsynonymous SNV	T3576G	D1192E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SETX	Setx	ENSG00000107290	senataxin	chr9:135136743-135230372	This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Body Height; Lupus Erythematosus, Systemic; Multiple Sclerosis; Tobacco Use Disorder; longevity	Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility.		GO:0000165;MAPK cascade;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006369;termination of RNA polymerase II transcription;IEA|GO:0006376;mRNA splice site selection;IMP|GO:0006396;RNA processing;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033120;positive regulation of RNA splicing;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043491;protein kinase B signaling;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048511;rhythmic process;IEA|GO:0060566;positive regulation of DNA-templated transcription, termination;IMP|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071300;cellular response to retinoic acid;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2000806;positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;IMP	GO:0000228;nuclear chromosome;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0042995;cell projection;IEA|GO:0045171;intercellular bridge;IDA	GO:0000166;nucleotide binding;IEA|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IC|GO:0003678;DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SETX	https://www.uniprot.org/uniprot/Q7Z333	https://hpo.jax.org/app/browse/search?q=SETX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608465	http://www.informatics.jax.org/searchtool/Search.do?query=SETX&submit=Quick%0D%3596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETX	rs1185193	0.640575	0.7929	0.7635	0.23	3	13	exonic	exonic	exonic	SETX	SETX	ENSG00000107290	nonsynonymous SNV	nonsynonymous SNV	unknown	SETX:NM_015046:exon10:c.T3576G:p.D1192E,	SETX:uc004cbk.3:exon10:c.T3576G:p.D1192E,SETX:uc004cbj.3:exon1:c.T2433G:p.D811E,SETX:uc010mzt.3:exon1:c.T2433G:p.D811E,	UNKNOWN	Het;A>C	1808;62|69	Hom;A>C	3106;1|100
N	N	-	9	135206460	135206460	A	G	snp	synonymous SNV	T1077C	Y359Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	SETX	Setx	ENSG00000107290	senataxin	chr9:135136743-135230372	This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Body Height; Lupus Erythematosus, Systemic; Multiple Sclerosis; Tobacco Use Disorder; longevity	Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility.		GO:0000165;MAPK cascade;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006369;termination of RNA polymerase II transcription;IEA|GO:0006376;mRNA splice site selection;IMP|GO:0006396;RNA processing;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033120;positive regulation of RNA splicing;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043491;protein kinase B signaling;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048511;rhythmic process;IEA|GO:0060566;positive regulation of DNA-templated transcription, termination;IMP|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071300;cellular response to retinoic acid;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2000806;positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;IMP	GO:0000228;nuclear chromosome;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0042995;cell projection;IEA|GO:0045171;intercellular bridge;IDA	GO:0000166;nucleotide binding;IEA|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IC|GO:0003678;DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SETX	https://www.uniprot.org/uniprot/Q7Z333	https://hpo.jax.org/app/browse/search?q=SETX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608465	http://www.informatics.jax.org/searchtool/Search.do?query=SETX&submit=Quick%0D%3596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SETX	rs9411449	0.626597	0.7755	0.7477	1	0	0	exonic	exonic	exonic	SETX	SETX	ENSG00000107290	synonymous SNV	synonymous SNV	unknown	SETX:NM_015046:exon9:c.T1077C:p.Y359Y,	SETX:uc004cbk.3:exon9:c.T1077C:p.Y359Y,	UNKNOWN	Het;A>G	899;39|45	Hom;A>G	2137;0|84
N	N	-	9	135374898	135374898	T	C	snp	synonymous SNV	T543C	N181N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	C9orf171	 																	rs562350	0.678315	0.6246	0.5875	1	0	0	exonic	exonic	exonic	C9orf171	C9orf171	ENSG00000188523	synonymous SNV	synonymous SNV	unknown	C9orf171:NM_207417:exon4:c.T543C:p.N181N,C9orf171:NM_001282957:exon3:c.T435C:p.N145N,	C9orf171:uc004cbn.3:exon4:c.T543C:p.N181N,C9orf171:uc004cbo.3:exon3:c.T435C:p.N145N,	UNKNOWN	Het;T>C	1449;81|67	Hom;T>C	4754;0|175
N	N	-	9	135469394	135469394	C	T	snp	UTR3	*859G>A	 	 	 	DDX31	Ddx31	ENSG00000125485	DEAD-box helicase 31	chr9:135468384-135545788	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]	Schizophrenia	 		GO:0010501;RNA secondary structure unwinding;IBA|GO:0042254;ribosome biogenesis;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005794;Golgi apparatus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX31	https://www.uniprot.org/uniprot/Q9H8H2		https://www.ncbi.nlm.nih.gov/omim/?term=616533	http://www.informatics.jax.org/searchtool/Search.do?query=DDX31&submit=Quick%0D%5784ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX31	rs2236517	0.279952	0	0	1	0	0	downstream	downstream	UTR3	DDX31	DDX31	ENSG00000125485(ENST00000372159:c.*859G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	454;16|18	Hom;C>T	789;0|25
N	N	-	9	135522454	135522458	AAAGT	A	indel	intronic	 	 	 	 	DDX31	Ddx31	ENSG00000125485	DEAD-box helicase 31	chr9:135468384-135545788	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]	Schizophrenia	 		GO:0010501;RNA secondary structure unwinding;IBA|GO:0042254;ribosome biogenesis;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005794;Golgi apparatus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX31	https://www.uniprot.org/uniprot/Q9H8H2		https://www.ncbi.nlm.nih.gov/omim/?term=616533	http://www.informatics.jax.org/searchtool/Search.do?query=DDX31&submit=Quick%0D%5784ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX31	rs140712462	0.28155	0.3111	0.3099	1	0	0	intronic	intronic	intronic	DDX31	DDX31	ENSG00000125485	Na	Na	Na	Na	Na	Na	Het;-AAGT	1300;53|36	Hom;-AAGT	1820;2|54
N	N	-	9	135522573	135522573	A	G	snp	intronic	 	 	 	 	DDX31	Ddx31	ENSG00000125485	DEAD-box helicase 31	chr9:135468384-135545788	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]	Schizophrenia	 		GO:0010501;RNA secondary structure unwinding;IBA|GO:0042254;ribosome biogenesis;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005794;Golgi apparatus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDX31	https://www.uniprot.org/uniprot/Q9H8H2		https://www.ncbi.nlm.nih.gov/omim/?term=616533	http://www.informatics.jax.org/searchtool/Search.do?query=DDX31&submit=Quick%0D%5784ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX31	rs3824573	0.28155	0	0	1	0	0	intronic	intronic	intronic	DDX31	DDX31	ENSG00000125485	Na	Na	Na	Na	Na	Na	Het;A>G	118;6|6	Hom;A>G	269;0|8
N	N	-	9	136268084	136268084	A	G	snp	nonsynonymous SNV	A1417G	K473E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	STKLD1	Stkld1																	rs3124747	0.470048	0.5727	0.6320	1	0	0	exonic	exonic	exonic	STKLD1	C9orf96	ENSG00000198870	nonsynonymous SNV	nonsynonymous SNV	unknown	STKLD1:NM_153710:exon14:c.A1417G:p.K473E,	C9orf96:uc004cdk.3:exon14:c.A1417G:p.K473E,	UNKNOWN	Het;A>G	777;45|36	Hom;A>G	2312;0|84
N	N	-	9	136291621	136291621	A	T	snp	intronic	 	 	 	 	ADAMTS13	Adamts13	ENSG00000281244	ADAM metallopeptidase with thrombospondin type 1 motif 13	chr9:136279478-136324508	This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Alcoholism; stroke, ischemic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis; null; E-Selectin; plasma levels of liver enzymes; Congenital thrombotic thrombocytopenic purpura; arterial thrombosis; Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic; Alkaline Phosphatase	Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile.	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IDA|GO:0007160;cell-matrix adhesion;NAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0009100;glycoprotein metabolic process;NAS|GO:0016485;protein processing;TAS|GO:0030168;platelet activation;NAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0043171;peptide catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;NAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS13		https://hpo.jax.org/app/browse/search?q=ADAMTS13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604134	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS13&submit=Quick%0D%22285ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS13	rs28757785	0.236222	0	0	1	0	0	intronic	intronic	intronic	ADAMTS13	ADAMTS13	ENSG00000160323	Na	Na	Na	Na	Na	Na	Het;A>T	89;6|4	Hom;A>T	152;0|5
N	N	-	9	136311017	136311017	G	A	snp	intronic	 	 	 	 	ADAMTS13	Adamts13	ENSG00000281244	ADAM metallopeptidase with thrombospondin type 1 motif 13	chr9:136279478-136324508	This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Alcoholism; stroke, ischemic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis; null; E-Selectin; plasma levels of liver enzymes; Congenital thrombotic thrombocytopenic purpura; arterial thrombosis; Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic; Alkaline Phosphatase	Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile.	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IDA|GO:0007160;cell-matrix adhesion;NAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0009100;glycoprotein metabolic process;NAS|GO:0016485;protein processing;TAS|GO:0030168;platelet activation;NAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0043171;peptide catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;NAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS13		https://hpo.jax.org/app/browse/search?q=ADAMTS13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604134	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS13&submit=Quick%0D%22285ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS13	rs652600	0.535144	0	0	1	0	0	intronic	intronic	intronic	ADAMTS13	ADAMTS13	ENSG00000160323	Na	Na	Na	Na	Na	Na	Het;G>A	330;21|14	Hom;G>A	670;0|25
N	N	-	9	136385437	136385437	A	G	snp	intronic	 	 	 	 	TMEM8C	Tmem8c	ENSG00000187616	myomaker, myoblast fusion factor	chr9:136379708-136393734			Mice homozygous for a knock-out allele exhibit early postnatal lethality, paralysis, kyphosis and defective myoblast fusion and survival leading to the absence of differentiated muscle in the trunk, limb and head.		GO:0007517;muscle organ development;IEA|GO:0007520;myoblast fusion;IEA|GO:0014905;myoblast fusion involved in skeletal muscle regeneration;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0045026;plasma membrane fusion;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM8C			https://www.ncbi.nlm.nih.gov/omim/?term=615345	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM8C&submit=Quick%0D%15857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM8C	rs9802272	0.763778	0.7647	0.7477	1	0	0	intronic	intronic	intronic	TMEM8C	TMEM8C	ENSG00000187616	Na	Na	Na	Na	Na	Na	Het;A>G	1094;34|45	Hom;A>G	2916;0|70
N	N	-	9	136385453	136385453	A	G	snp	intronic	 	 	 	 	TMEM8C	Tmem8c	ENSG00000187616	myomaker, myoblast fusion factor	chr9:136379708-136393734			Mice homozygous for a knock-out allele exhibit early postnatal lethality, paralysis, kyphosis and defective myoblast fusion and survival leading to the absence of differentiated muscle in the trunk, limb and head.		GO:0007517;muscle organ development;IEA|GO:0007520;myoblast fusion;IEA|GO:0014905;myoblast fusion involved in skeletal muscle regeneration;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0045026;plasma membrane fusion;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM8C			https://www.ncbi.nlm.nih.gov/omim/?term=615345	http://www.informatics.jax.org/searchtool/Search.do?query=TMEM8C&submit=Quick%0D%15857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM8C	rs9802273	0.767173	0.7618	0.7380	1	0	0	intronic	intronic	intronic	TMEM8C	TMEM8C	ENSG00000187616	Na	Na	Na	Na	Na	Na	Het;A>G	1003;24|41	Hom;A>G	2646;0|59
N	N	-	9	136522530	136522539	GGAGAGAGGA	G	indel	ncRNA_exonic	 	 	 	 	DBH-AS1																		rs567810295	0	0	0	1	0	0	ncRNA_exonic	UTR5	intronic	DBH-AS1	DBH-AS1(uc031tfk.1:c.150_150delinsC)	ENSG00000123454	Na	Na	Na	Na	Na	Na	Het;-GAGAGAGGA	67;6|3	Hom;-GAGAGAGGA	466;0|12
N	N	-	9	136523669	136523669	C	T	snp	UTR3	*100C>T	 	 	 	DBH	Dbh	ENSG00000123454	dopamine beta-hydroxylase	chr9:136501482-136524466	The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008]	paranoia; Tourette syndrome; Syncope, Vasovagal|Vasovagal syncope; hypertension, pregnancy induced; alcoholism; alcohol withdrawal; migraine with aura; interpersonal sensitivity; paranoid ideation; psychoticism; personality; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; continuous performance task; Hypercholesterolemia|LDLC levels; nicotine dependence; cotinine; migrane. typical; Migraine Disorders; Autism; normal variation; smoking; Parkinson's disease; Tobacco Use Disorder; epilepsy; attention deficit disorder conduct disorder oppositional defiant disorder; ADHD; smoking behavior; Type 2 Diabetes| edema | rosiglitazone; antipsychotic response | Weight Gain; dopamine beta-hydroxylase activity; cognitive performance; Bulimia; autism; attention deficit hyperactivity disorder; alcoholism; delirium tremens, alcohol-induced; Alzheimer's disease; multiple sclerosis; several psychiatric disorders; null; alcoholism; personality traits; alcohol consumption; ADHD | attention deficit hyperactivity disorder; Parkinson's disease ; autonomic disease; Perceptual Disorders; hormone disturbance; Schizophrenia; ADHD | attention-deficit hyperactivity disorder; Chronic renal failure|Kidney Failure, Chronic; Migraine with Aura; delusional disorder hallucinations; schizophrenia; hypertension; migraine; melanoma; Attention-deficit/hyperactivity disorder; antisocial behavioural traits; Dopamine beta-Hydroxylase Activity; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Homozygous mutants are embryonic lethal probably due to cardiovascular failure, but survive if treated to replace their dopamine deficit.	Catecholamine biosynthesis	GO:0001816;cytokine production;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0001975;response to amphetamine;IEA|GO:0002443;leukocyte mediated immunity;IEA|GO:0006589;octopamine biosynthetic process;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007613;memory;IEA|GO:0007626;locomotory behavior;IEA|GO:0008306;associative learning;IEA|GO:0008542;visual learning;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042309;homoiothermy;IEA|GO:0042420;dopamine catabolic process;IDA|GO:0042421;norepinephrine biosynthetic process;IEA|GO:0042423;catecholamine biosynthetic process;TAS|GO:0042593;glucose homeostasis;IEA|GO:0042596;fear response;IEA|GO:0042711;maternal behavior;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0048149;behavioral response to ethanol;IEA|GO:0048265;response to pain;IEA|GO:0050900;leukocyte migration;IEA|GO:0055114;oxidation-reduction process;IEA|GO:2001236;regulation of extrinsic apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030667;secretory granule membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034466;chromaffin granule lumen;IEA|GO:0034774;secretory granule lumen;TAS|GO:0042584;chromaffin granule membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003824;catalytic activity;TAS|GO:0004497;monooxygenase activity;IEA|GO:0004500;dopamine beta-monooxygenase activity;TAS|GO:0005507;copper ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016715;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen;IEA|GO:0031418;L-ascorbic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DBH	https://www.uniprot.org/uniprot/P09172	https://hpo.jax.org/app/browse/search?q=DBH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609312	http://www.informatics.jax.org/searchtool/Search.do?query=DBH&submit=Quick%0D%5530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DBH	rs129882	0.255391	0	0	1	0	0	UTR3	UTR3	UTR3	DBH(NM_000787:c.*100C>T)	DBH(uc004cel.3:c.*100C>T)	ENSG00000123454(ENST00000393056:c.*100C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	675;27|30	Hom;C>T	2203;0|82
N	N	-	9	136573648	136573648	A	T	snp	intronic	 	 	 	 	SARDH	Sardh	ENSG00000123453	sarcosine dehydrogenase	chr9:136528682-136605077	This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Menopause; Spinal Dysraphism; Waist Circumference	 	Choline catabolism	GO:0008150;biological_process;ND|GO:0042426;choline catabolic process;TAS|GO:0055114;oxidation-reduction process;IEA|GO:1901053;sarcosine catabolic process;IBA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0008480;sarcosine dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SARDH	https://www.uniprot.org/uniprot/Q9UL12	https://hpo.jax.org/app/browse/search?q=SARDH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604455	http://www.informatics.jax.org/searchtool/Search.do?query=SARDH&submit=Quick%0D%5529ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SARDH	rs495464	0	0	0	1	0	0	intronic	intronic	intronic	SARDH	SARDH	ENSG00000123453	Na	Na	Na	Na	Na	Na	Het;A>T	253;17|12	Hom;A>T	595;0|19
N	N	-	9	136896618	136896618	G	GA	indel	ncRNA_exonic	 	 	 	 	LINC00094		ENSG00000235106		chr9:136890561-136899788								http://www.genecards.org/index.php?path=/Search/keyword/LINC00094				http://www.informatics.jax.org/searchtool/Search.do?query=LINC00094&submit=Quick%0D%19308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00094	rs34446029	0.542133	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC00094	LINC00094	ENSG00000235106	Na	Na	Na	Na	Na	Na	Het;+A	946;24|37	Hom;+A	1481;0|46
N	N	-	9	136898922	136898922	G	T	snp	ncRNA_intronic	 	 	 	 	LINC00094		ENSG00000235106		chr9:136890561-136899788								http://www.genecards.org/index.php?path=/Search/keyword/LINC00094				http://www.informatics.jax.org/searchtool/Search.do?query=LINC00094&submit=Quick%0D%19308ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00094	rs443876	0.721246	0	0	1	0	0	intronic	intronic	ncRNA_intronic	BRD3	BRD3	ENSG00000235106	Na	Na	Na	Na	Na	Na	Het;G>T	118;20|7	Hom;G>T	577;0|21
N	N	-	9	136907108	136907108	G	A	snp	intronic	 	 	 	 	BRD3	Brd3	ENSG00000169925	bromodomain containing 3	chr9:136895427-136933657	This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0016569;covalent chromatin modification;IEA	GO:0005634;nucleus;IEA	GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRD3			https://www.ncbi.nlm.nih.gov/omim/?term=601541	http://www.informatics.jax.org/searchtool/Search.do?query=BRD3&submit=Quick%0D%12598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD3	rs467317	0.529952	0.4121	0.4744	1	0	0	intronic	intronic	intronic	BRD3	BRD3	ENSG00000169925	Na	Na	Na	Na	Na	Na	Het;G>A	1178;64|55	Hom;G>A	3102;0|117
N	N	-	9	136913355	136913355	T	C	snp	synonymous SNV	A936G	L312L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	BRD3	Brd3	ENSG00000169925	bromodomain containing 3	chr9:136895427-136933657	This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0016569;covalent chromatin modification;IEA	GO:0005634;nucleus;IEA	GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRD3			https://www.ncbi.nlm.nih.gov/omim/?term=601541	http://www.informatics.jax.org/searchtool/Search.do?query=BRD3&submit=Quick%0D%12598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD3	rs464826	0.72504	0.7077	0.6835	1	0	0	exonic	exonic	exonic	BRD3	BRD3	ENSG00000169925	synonymous SNV	synonymous SNV	unknown	BRD3:NM_007371:exon6:c.A936G:p.L312L,	BRD3:uc004cex.2:exon6:c.A936G:p.L312L,BRD3:uc004cew.3:exon6:c.A936G:p.L312L,	UNKNOWN	Het;T>C	1490;64|68	Hom;T>C	3201;0|104
N	N	-	9	136923972	136923972	G	A	snp	intronic	 	 	 	 	BRD3	Brd3	ENSG00000169925	bromodomain containing 3	chr9:136895427-136933657	This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0016569;covalent chromatin modification;IEA	GO:0005634;nucleus;IEA	GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRD3			https://www.ncbi.nlm.nih.gov/omim/?term=601541	http://www.informatics.jax.org/searchtool/Search.do?query=BRD3&submit=Quick%0D%12598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD3	rs2810492	0.305511	0	0	1	0	0	intronic	intronic	intronic	BRD3	BRD3	ENSG00000169925	Na	Na	Na	Na	Na	Na	Het;G>A	201;9|9	Hom;G>A	412;0|17
N	N	-	9	136944465	136944465	T	C	snp	ncRNA_exonic	 	 	 	 	ARF4P1																		rs2506703	0.713458	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	BRD3(dist=11324),WDR5(dist=56745)	BRD3(dist=10810),WDR5(dist=56745)	ENSG00000271525	Na	Na	Na	Na	Na	Na	Het;T>C	381;8|15	Hom;T>C	662;2|26
N	N	-	9	136964450	136964450	C	G	snp	intergenic	 	 	 	 	ARF4P1																		rs7040581	0.383586	0	0	1	0	0	intergenic	intergenic	intergenic	BRD3(dist=31309),WDR5(dist=36760)	BRD3(dist=30795),WDR5(dist=36760)	ENSG00000271525(dist=19884),ENSG00000273249(dist=32914)	Na	Na	Na	Na	Na	Na	Het;C>G	1254;85|60	Hom;C>G	2831;0|105
N	N	-	9	137004907	137004907	T	C	snp	intronic	 	 	 	 	WDR5	Wdr5	ENSG00000196363	WD repeat domain 5	chr9:137000487-137025093	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]	Bone Mineral Density	 	Neddylation	GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA	GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR5			https://www.ncbi.nlm.nih.gov/omim/?term=609012	http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5	rs28581991	0.46845	0	0	1	0	0	intronic	intronic	intronic	WDR5	WDR5	ENSG00000196363	Na	Na	Na	Na	Na	Na	Het;T>C	467;15|16	Hom;T>C	1415;0|46
N	N	-	9	137019511	137019511	T	C	snp	intronic	 	 	 	 	WDR5	Wdr5	ENSG00000196363	WD repeat domain 5	chr9:137000487-137025093	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]	Bone Mineral Density	 	Neddylation	GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA	GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR5			https://www.ncbi.nlm.nih.gov/omim/?term=609012	http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5	rs28703244	0.611022	0	0	1	0	0	intronic	intronic	intronic	WDR5	WDR5	ENSG00000196363	Na	Na	Na	Na	Na	Na	Het;T>C	482;13|19	Hom;T>C	734;0|23
N	N	-	9	137021803	137021803	C	T	snp	intronic	 	 	 	 	WDR5	Wdr5	ENSG00000196363	WD repeat domain 5	chr9:137000487-137025093	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]	Bone Mineral Density	 	Neddylation	GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA	GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA	http://www.genecards.org/index.php?path=/Search/keyword/WDR5			https://www.ncbi.nlm.nih.gov/omim/?term=609012	http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5	rs28522840	0.383387	0	0	1	0	0	intronic	intronic	intronic	WDR5	WDR5	ENSG00000196363	Na	Na	Na	Na	Na	Na	Het;C>T	112;15|7	Hom;C>T	369;1|14
N	N	-	9	137029841	137029841	T	G	snp	upstream	 	 	 	 	RNU6ATAC																		rs28650068	0.748203	0	0	1	0	0	upstream	upstream	upstream	RNU6ATAC	RNU6ATAC	ENSG00000221676	Na	Na	Na	Na	Na	Na	Het;T>G	75;3|3	Hom;T>G	236;0|9
N	N	-	9	137040503	137040503	A	G	snp	intergenic	 	 	 	 	BX649601.1																		rs34640256	0.599441	0	0	1	0	0	intergenic	intergenic	intergenic	RNU6ATAC(dist=10817),RXRA(dist=177806)	RNU6ATAC(dist=10817),RXRA(dist=168441)	ENSG00000273473(dist=6041),ENSG00000223729(dist=145274)	Na	Na	Na	Na	Na	Na	Het;A>G	167;14|8	Hom;A>G	784;0|25
N	N	-	9	137293761	137293761	G	A	snp	nonsynonymous SNV	G463A	G155R	aliphatic,neutral	polar,hydrophilic,charged(+)	RXRA	Rxra	ENSG00000186350	retinoid X receptor alpha	chr9:137208944-137332431	Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	colorectal cancer; chronic obstructive pulmonary disease; schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder; Alzheimer's disease ; Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Renal Cell|Kidney Neoplasms; normal variation; Bone Mineral Density; psoriasis; plasma HDL cholesterol (HDL-C) levels; rubella vaccine; Platelet Count; atherosclerosis, coronary hyperlipidemia; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; Tobacco Use Disorder; lung cancer ; Bile Duct Neoplasms|Gallbladder Neoplasms|Gallstones; Coronary Artery Disease; Coronary Disease; prostate cancer; Adenoma|Colonic Neoplasms|Recurrence; Chronic renal failure|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lung cancer; Hypercholesterolemia|LDLC levels; Coronary Restenosis|Coronary Stenosis	Null embryos have multiple organ defects and die of cardiac failure by E14.5. Gene ablation in liver, prostate, fat or epidermis tissue-specifically affects development, function and/or neoplasia. Hypomorphic mutants develop alopecia, progressively severe dermal cysts and late corneal opacity.	RUNX3 regulates YAP1-mediated transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0001893;maternal placenta development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006766;vitamin metabolic process;TAS|GO:0007507;heart development;IEA|GO:0007566;embryo implantation;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032526;response to retinoic acid;IMP|GO:0035357;peroxisome proliferator activated receptor signaling pathway;IDA|GO:0043010;camera-type eye development;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0045994;positive regulation of translational initiation by iron;IEA|GO:0048384;retinoic acid receptor signaling pathway;IMP|GO:0051289;protein homotetramerization;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0055012;ventricular cardiac muscle cell differentiation;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:1901522;positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001972;retinoic acid binding;IDA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IMP|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0004886;9-cis retinoic acid receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;IDA|GO:0016922;ligand-dependent nuclear receptor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0042277;peptide binding;IDA|GO:0042809;vitamin D receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0044323;retinoic acid-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050692;DBD domain binding;IDA|GO:0050693;LBD domain binding;IDA|GO:0070644;vitamin D response element binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RXRA			https://www.ncbi.nlm.nih.gov/omim/?term=180245	http://www.informatics.jax.org/searchtool/Search.do?query=RXRA&submit=Quick%0D%15622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RXRA	rs2234753	0.770966	0.8887	0.8246	1	0	0	intronic	exonic	intronic	RXRA	RXRA	ENSG00000186350	Na	nonsynonymous SNV	Na	Na	RXRA:uc004cfa.1:exon3:c.G463A:p.G155R,	Na	Het;G>A	340;5|15	Hom;G>A	439;0|15
N	N	-	9	137320855	137320855	G	T	snp	intronic	 	 	 	 	RXRA	Rxra	ENSG00000186350	retinoid X receptor alpha	chr9:137208944-137332431	Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	colorectal cancer; chronic obstructive pulmonary disease; schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder; Alzheimer's disease ; Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Renal Cell|Kidney Neoplasms; normal variation; Bone Mineral Density; psoriasis; plasma HDL cholesterol (HDL-C) levels; rubella vaccine; Platelet Count; atherosclerosis, coronary hyperlipidemia; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; Tobacco Use Disorder; lung cancer ; Bile Duct Neoplasms|Gallbladder Neoplasms|Gallstones; Coronary Artery Disease; Coronary Disease; prostate cancer; Adenoma|Colonic Neoplasms|Recurrence; Chronic renal failure|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lung cancer; Hypercholesterolemia|LDLC levels; Coronary Restenosis|Coronary Stenosis	Null embryos have multiple organ defects and die of cardiac failure by E14.5. Gene ablation in liver, prostate, fat or epidermis tissue-specifically affects development, function and/or neoplasia. Hypomorphic mutants develop alopecia, progressively severe dermal cysts and late corneal opacity.	RUNX3 regulates YAP1-mediated transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0001893;maternal placenta development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006766;vitamin metabolic process;TAS|GO:0007507;heart development;IEA|GO:0007566;embryo implantation;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032526;response to retinoic acid;IMP|GO:0035357;peroxisome proliferator activated receptor signaling pathway;IDA|GO:0043010;camera-type eye development;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0045994;positive regulation of translational initiation by iron;IEA|GO:0048384;retinoic acid receptor signaling pathway;IMP|GO:0051289;protein homotetramerization;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0055012;ventricular cardiac muscle cell differentiation;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:1901522;positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001972;retinoic acid binding;IDA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IMP|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0004886;9-cis retinoic acid receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;IDA|GO:0016922;ligand-dependent nuclear receptor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0042277;peptide binding;IDA|GO:0042809;vitamin D receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0044323;retinoic acid-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050692;DBD domain binding;IDA|GO:0050693;LBD domain binding;IDA|GO:0070644;vitamin D response element binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RXRA			https://www.ncbi.nlm.nih.gov/omim/?term=180245	http://www.informatics.jax.org/searchtool/Search.do?query=RXRA&submit=Quick%0D%15622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RXRA	rs3118570	0.830072	0	0	1	0	0	intronic	intronic	intronic	RXRA	RXRA	ENSG00000186350	Na	Na	Na	Na	Na	Na	Het;G>T	331;19|14	Hom;G>T	993;0|30
N	N	-	9	137321156	137321156	A	G	snp	intronic	 	 	 	 	RXRA	Rxra	ENSG00000186350	retinoid X receptor alpha	chr9:137208944-137332431	Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	colorectal cancer; chronic obstructive pulmonary disease; schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder; Alzheimer's disease ; Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Renal Cell|Kidney Neoplasms; normal variation; Bone Mineral Density; psoriasis; plasma HDL cholesterol (HDL-C) levels; rubella vaccine; Platelet Count; atherosclerosis, coronary hyperlipidemia; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; Tobacco Use Disorder; lung cancer ; Bile Duct Neoplasms|Gallbladder Neoplasms|Gallstones; Coronary Artery Disease; Coronary Disease; prostate cancer; Adenoma|Colonic Neoplasms|Recurrence; Chronic renal failure|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lung cancer; Hypercholesterolemia|LDLC levels; Coronary Restenosis|Coronary Stenosis	Null embryos have multiple organ defects and die of cardiac failure by E14.5. Gene ablation in liver, prostate, fat or epidermis tissue-specifically affects development, function and/or neoplasia. Hypomorphic mutants develop alopecia, progressively severe dermal cysts and late corneal opacity.	RUNX3 regulates YAP1-mediated transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0001893;maternal placenta development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006766;vitamin metabolic process;TAS|GO:0007507;heart development;IEA|GO:0007566;embryo implantation;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032526;response to retinoic acid;IMP|GO:0035357;peroxisome proliferator activated receptor signaling pathway;IDA|GO:0043010;camera-type eye development;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0045994;positive regulation of translational initiation by iron;IEA|GO:0048384;retinoic acid receptor signaling pathway;IMP|GO:0051289;protein homotetramerization;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0055012;ventricular cardiac muscle cell differentiation;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:1901522;positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001972;retinoic acid binding;IDA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IMP|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0004886;9-cis retinoic acid receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;IDA|GO:0016922;ligand-dependent nuclear receptor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0042277;peptide binding;IDA|GO:0042809;vitamin D receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0044323;retinoic acid-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050692;DBD domain binding;IDA|GO:0050693;LBD domain binding;IDA|GO:0070644;vitamin D response element binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RXRA			https://www.ncbi.nlm.nih.gov/omim/?term=180245	http://www.informatics.jax.org/searchtool/Search.do?query=RXRA&submit=Quick%0D%15622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RXRA	rs1536475	0.816693	0	0	1	0	0	intronic	intronic	intronic	RXRA	RXRA	ENSG00000186350	Na	Na	Na	Na	Na	Na	Het;A>G	402;4|15	Hom;A>G	1424;0|42
N	N	-	9	137328286	137328286	G	A	snp	intronic	 	 	 	 	RXRA	Rxra	ENSG00000186350	retinoid X receptor alpha	chr9:137208944-137332431	Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	colorectal cancer; chronic obstructive pulmonary disease; schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder; Alzheimer's disease ; Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Renal Cell|Kidney Neoplasms; normal variation; Bone Mineral Density; psoriasis; plasma HDL cholesterol (HDL-C) levels; rubella vaccine; Platelet Count; atherosclerosis, coronary hyperlipidemia; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; Tobacco Use Disorder; lung cancer ; Bile Duct Neoplasms|Gallbladder Neoplasms|Gallstones; Coronary Artery Disease; Coronary Disease; prostate cancer; Adenoma|Colonic Neoplasms|Recurrence; Chronic renal failure|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lung cancer; Hypercholesterolemia|LDLC levels; Coronary Restenosis|Coronary Stenosis	Null embryos have multiple organ defects and die of cardiac failure by E14.5. Gene ablation in liver, prostate, fat or epidermis tissue-specifically affects development, function and/or neoplasia. Hypomorphic mutants develop alopecia, progressively severe dermal cysts and late corneal opacity.	RUNX3 regulates YAP1-mediated transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0001893;maternal placenta development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006766;vitamin metabolic process;TAS|GO:0007507;heart development;IEA|GO:0007566;embryo implantation;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032526;response to retinoic acid;IMP|GO:0035357;peroxisome proliferator activated receptor signaling pathway;IDA|GO:0043010;camera-type eye development;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0045994;positive regulation of translational initiation by iron;IEA|GO:0048384;retinoic acid receptor signaling pathway;IMP|GO:0051289;protein homotetramerization;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0055012;ventricular cardiac muscle cell differentiation;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:1901522;positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001972;retinoic acid binding;IDA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IMP|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0004886;9-cis retinoic acid receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;IDA|GO:0016922;ligand-dependent nuclear receptor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0042277;peptide binding;IDA|GO:0042809;vitamin D receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0044323;retinoic acid-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050692;DBD domain binding;IDA|GO:0050693;LBD domain binding;IDA|GO:0070644;vitamin D response element binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RXRA			https://www.ncbi.nlm.nih.gov/omim/?term=180245	http://www.informatics.jax.org/searchtool/Search.do?query=RXRA&submit=Quick%0D%15622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RXRA	rs1805343	0.483027	0.5194	0.5880	1	0	0	intronic	intronic	intronic	RXRA	RXRA	ENSG00000186350	Na	Na	Na	Na	Na	Na	Het;G>A	416;29|20	Hom;G>A	1251;0|48
N	N	-	9	138077159	138077159	G	C	snp	ncRNA_exonic	 	 	 	 	LOC401557																		rs10745397	0.652756	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC401557	LOC401557	ENSG00000130558(dist=64134),ENSG00000227958(dist=19409)	Na	Na	Na	Na	Na	Na	Het;G>C	1794;63|77	Hom;G>C	3072;2|116
N	N	-	9	138077194	138077194	T	C	snp	ncRNA_exonic	 	 	 	 	LOC401557																		rs10745398	0.663339	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC401557	LOC401557	ENSG00000130558(dist=64169),ENSG00000227958(dist=19374)	Na	Na	Na	Na	Na	Na	Het;T>C	1895;66|77	Hom;T>C	3176;2|115
N	N	-	9	138078630	138078630	A	G	snp	ncRNA_exonic	 	 	 	 	LOC401557																		rs4842225	0.661342	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC401557	LOC401557	ENSG00000130558(dist=65605),ENSG00000227958(dist=17938)	Na	Na	Na	Na	Na	Na	Het;A>G	1456;68|68	Hom;A>G	2103;0|72
N	N	-	9	138451183	138451184	GT	G	indel	intergenic	 	 	 	 	OBP2A	Obp2b	ENSG00000122136	odorant binding protein 2A	chr9:138437985-138441815	This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005549;odorant binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OBP2A	https://www.uniprot.org/uniprot/Q9NY56		https://www.ncbi.nlm.nih.gov/omim/?term=164320	http://www.informatics.jax.org/searchtool/Search.do?query=OBP2A&submit=Quick%0D%5386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OBP2A	rs11298443	0.971446	0	0	1	0	0	intergenic	intergenic	intergenic	OBP2A(dist=9368),PAEP(dist=2420)	OBP2A(dist=9368),PAEP(dist=2420)	ENSG00000122136(dist=9368),ENSG00000122133(dist=2418)	Na	Na	Na	Na	Na	Na	Het;-T	304;2|16	Hom;-T	284;0|13
N	N	-	9	138454301	138454301	C	T	snp	intronic	 	 	 	 	PAEP		ENSG00000122133	progestagen associated endometrial protein	chr9:138453602-138458801	This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]	Glucose			GO:0006810;transport;IEA|GO:0006915;apoptotic process;IDA|GO:0007275;multicellular organism development;TAS|GO:0032725;positive regulation of granulocyte macrophage colony-stimulating factor production;IDA|GO:2000667;positive regulation of interleukin-13 secretion;IDA|GO:2000778;positive regulation of interleukin-6 secretion;IDA	GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI|GO:0036094;small molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAEP	https://www.uniprot.org/uniprot/P09466		https://www.ncbi.nlm.nih.gov/omim/?term=173310	http://www.informatics.jax.org/searchtool/Search.do?query=PAEP&submit=Quick%0D%5385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAEP	rs3748206	0.216653	0.2797	0.2767	1	0	0	intronic	intronic	intronic	PAEP	PAEP	ENSG00000122133	Na	Na	Na	Na	Na	Na	Het;C>T	659;45|36	Hom;C>T	2069;0|76
N	N	-	9	138516531	138516531	G	C	snp	intronic	 	 	 	 	GLT6D1	Glt6d1	ENSG00000204007	glycosyltransferase 6 domain containing 1	chr9:138515502-138531386	The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]	null; Periodontitis; periodontitis; longevity	 		GO:0005975;carbohydrate metabolic process;IEA|GO:0009247;glycolipid biosynthetic process;IBA|GO:0030259;lipid glycosylation;IBA	GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLT6D1			https://www.ncbi.nlm.nih.gov/omim/?term=613699	http://www.informatics.jax.org/searchtool/Search.do?query=GLT6D1&submit=Quick%0D%17183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT6D1	rs7466817	0.724042	0.6732	0.6949	1	0	0	intronic	intronic	intronic	GLT6D1	GLT6D1	ENSG00000204007	Na	Na	Na	Na	Na	Na	Het;G>C	1591;42|66	Hom;G>C	1918;0|62
N	N	-	9	138586198	138586198	G	A	snp	synonymous SNV	C981T	P327P	hydrophobic,neutral	hydrophobic,neutral	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs572335	0.85623	0.8326	0.9096	1	0	0	exonic	exonic	exonic	SOHLH1	SOHLH1	ENSG00000165643	synonymous SNV	synonymous SNV	unknown	SOHLH1:NM_001012415:exon7:c.C981T:p.P327P,	SOHLH1:uc004cgl.3:exon7:c.C981T:p.P327P,	UNKNOWN	Het;G>A	728;82|42	Hom;G>A	2701;0|97
N	N	-	9	138586309	138586309	A	G	snp	intronic	 	 	 	 	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs484524	0.863019	0.8404	0.9162	1	0	0	intronic	intronic	intronic	SOHLH1	SOHLH1	ENSG00000165643	Na	Na	Na	Na	Na	Na	Het;A>G	1205;116|66	Hom;A>G	5029;0|179
N	N	-	9	138586854	138586854	C	T	snp	intronic	 	 	 	 	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs3118655	0.874401	0.8702	0.9217	1	0	0	intronic	intronic	intronic	SOHLH1	SOHLH1	ENSG00000165643	Na	Na	Na	Na	Na	Na	Het;C>T	68;1|3	Hom;C>T	201;0|7
N	N	-	9	138586966	138586966	G	A	snp	nonsynonymous SNV	C805T	P269S	hydrophobic,neutral	polar,hydrophilic,neutral	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs3119932	0.879992	0.8723	0.9238	0.08	1	12	exonic	exonic	exonic	SOHLH1	SOHLH1	ENSG00000165643	nonsynonymous SNV	nonsynonymous SNV	unknown	SOHLH1:NM_001101677:exon6:c.C805T:p.P269S,SOHLH1:NM_001012415:exon6:c.C805T:p.P269S,	SOHLH1:uc010nbe.3:exon6:c.C805T:p.P269S,SOHLH1:uc004cgl.3:exon6:c.C805T:p.P269S,	UNKNOWN	Het;G>A	661;15|18	Hom;G>A	1661;0|37
N	N	-	9	138586967	138586967	C	A	snp	synonymous SNV	G804T	G268G	aliphatic,neutral	aliphatic,neutral	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs3119933	0.879792	0.8695	0.9230	1	0	0	exonic	exonic	exonic	SOHLH1	SOHLH1	ENSG00000165643	synonymous SNV	synonymous SNV	unknown	SOHLH1:NM_001101677:exon6:c.G804T:p.G268G,SOHLH1:NM_001012415:exon6:c.G804T:p.G268G,	SOHLH1:uc010nbe.3:exon6:c.G804T:p.G268G,SOHLH1:uc004cgl.3:exon6:c.G804T:p.G268G,	UNKNOWN	Het;C>A	661;15|18	Hom;C>A	1661;0|38
N	N	-	9	138590138	138590138	T	C	snp	intronic	 	 	 	 	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs506498	0.903754	0.8926	0.9334	1	0	0	intronic	intronic	intronic	SOHLH1	SOHLH1	ENSG00000165643	Na	Na	Na	Na	Na	Na	Het;T>C	430;63|28	Hom;T>C	1616;0|56
N	N	-	9	138590347	138590347	C	T	snp	intronic	 	 	 	 	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs529976	0.867013	0.8457	0.9179	1	0	0	intronic	intronic	intronic	SOHLH1	SOHLH1	ENSG00000165643	Na	Na	Na	Na	Na	Na	Het;C>T	646;37|32	Hom;C>T	1719;0|65
N	N	-	9	138590928	138590928	C	T	snp	nonsynonymous SNV	G110A	R37Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs471525	0.808107	0.8807	0.8792	0.08	1	12	exonic	exonic	exonic	SOHLH1	SOHLH1	ENSG00000165643	nonsynonymous SNV	nonsynonymous SNV	unknown	SOHLH1:NM_001101677:exon2:c.G110A:p.R37Q,SOHLH1:NM_001012415:exon2:c.G110A:p.R37Q,	SOHLH1:uc010nbe.3:exon2:c.G110A:p.R37Q,SOHLH1:uc004cgl.3:exon2:c.G110A:p.R37Q,	UNKNOWN	Het;C>T	1232;32|57	Hom;C>T	2581;0|99
N	N	-	9	138591230	138591230	C	T	snp	intronic	 	 	 	 	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs558113	0.808506	0.8719	0.8714	1	0	0	intronic	intronic	intronic	SOHLH1	SOHLH1	ENSG00000165643	Na	Na	Na	Na	Na	Na	Het;C>T	183;21|11	Hom;C>T	755;0|28
N	N	-	9	138591266	138591266	A	G	snp	synonymous SNV	T48C	P16P	hydrophobic,neutral	hydrophobic,neutral	SOHLH1	Sohlh1	ENSG00000165643	spermatogenesis and oogenesis specific basic helix-loop-helix 1	chr9:138585253-138591374	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]	Azoospermia	Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly.		GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1	https://www.uniprot.org/uniprot/Q5JUK2	https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610224	http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1	rs559326	0.813898	0.8778	0.8810	1	0	0	exonic	exonic	exonic	SOHLH1	SOHLH1	ENSG00000165643	synonymous SNV	synonymous SNV	unknown	SOHLH1:NM_001101677:exon1:c.T48C:p.P16P,SOHLH1:NM_001012415:exon1:c.T48C:p.P16P,	SOHLH1:uc010nbe.3:exon1:c.T48C:p.P16P,SOHLH1:uc004cgl.3:exon1:c.T48C:p.P16P,	UNKNOWN	Het;A>G	197;25|13	Hom;A>G	1414;0|53
N	N	-	9	138594266	138594266	A	AC	indel	intronic	 	 	 	 	KCNT1	Kcnt1	ENSG00000107147	potassium sodium-activated channel subfamily T member 1	chr9:138594031-138684992	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]	Body Mass Index	Mice homozygous for a knock-out allele exhibit impaired action potential firing in sensory neurons and increased mechanical hypersensitivity in neuropathic pain models.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA|GO:0015269;calcium-activated potassium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KCNT1	https://www.uniprot.org/uniprot/Q5JUK3	https://hpo.jax.org/app/browse/search?q=KCNT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608167	http://www.informatics.jax.org/searchtool/Search.do?query=KCNT1&submit=Quick%0D%3580ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNT1	rs397745997	0.847843	0.8448	0.9032	1	0	0	intronic	intronic	intronic	KCNT1	KCNT1	ENSG00000107147	Na	Na	Na	Na	Na	Na	Het;+C	1444;48|57	Hom;+C	2362;2|93
N	N	-	9	138604947	138604947	C	G	snp	intronic	 	 	 	 	KCNT1	Kcnt1	ENSG00000107147	potassium sodium-activated channel subfamily T member 1	chr9:138594031-138684992	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]	Body Mass Index	Mice homozygous for a knock-out allele exhibit impaired action potential firing in sensory neurons and increased mechanical hypersensitivity in neuropathic pain models.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA|GO:0015269;calcium-activated potassium channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KCNT1	https://www.uniprot.org/uniprot/Q5JUK3	https://hpo.jax.org/app/browse/search?q=KCNT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608167	http://www.informatics.jax.org/searchtool/Search.do?query=KCNT1&submit=Quick%0D%3580ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNT1	rs487393	0.829673	0	0	1	0	0	intronic	intronic	intronic	KCNT1	KCNT1	ENSG00000107147	Na	Na	Na	Na	Na	Na	Het;C>G	53;2|4	Hom;C>G	120;0|6
N	N	-	9	139235823	139235823	A	AGGGCT	indel	UTR3	*206A>AGGGCT	 	 	 	GPSM1	Gpsm1	ENSG00000160360	G protein signaling modulator 1	chr9:139221932-139254057	G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]		Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal.	G alpha (i) signalling events	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA	GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPSM1			https://www.ncbi.nlm.nih.gov/omim/?term=609491	http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1	rs112024031	0.54992	0	0	1	0	0	UTR3	UTR3	UTR3	GPSM1(NM_015597:c.*206A>AGGGCT)	GPSM1(uc004chc.3:c.*206A>AGGGCT)	ENSG00000160360(ENST00000392945:c.*206A>AGGGCT)	Na	Na	Na	Na	Na	Na	Het;+GGGCT	203;4|6	Hom;+GGGCT	413;0|10
N	N	-	9	139243334	139243334	T	A	snp	intronic	 	 	 	 	GPSM1	Gpsm1	ENSG00000160360	G protein signaling modulator 1	chr9:139221932-139254057	G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]		Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal.	G alpha (i) signalling events	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA	GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPSM1			https://www.ncbi.nlm.nih.gov/omim/?term=609491	http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1	rs28429551	0.806909	0	0	1	0	0	intronic	intronic	intronic	GPSM1	GPSM1	ENSG00000160360	Na	Na	Na	Na	Na	Na	Het;T>A	340;7|14	Hom;T>A	353;0|12
N	N	-	9	139249991	139249991	T	C	snp	UTR5	-223T>C	 	 	 	GPSM1	Gpsm1	ENSG00000160360	G protein signaling modulator 1	chr9:139221932-139254057	G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]		Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal.	G alpha (i) signalling events	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA	GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPSM1			https://www.ncbi.nlm.nih.gov/omim/?term=609491	http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1	rs28603210	0.765176	0	0	1	0	0	intronic	UTR5	UTR5	GPSM1	GPSM1(uc004che.2:c.-223T>C)	ENSG00000160360(ENST00000291775:c.-223T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	116;1|4	Hom;T>C	140;0|5
N	N	-	9	139252495	139252495	G	A	snp	synonymous SNV	G324A	P108P	hydrophobic,neutral	hydrophobic,neutral	GPSM1	Gpsm1	ENSG00000160360	G protein signaling modulator 1	chr9:139221932-139254057	G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]		Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal.	G alpha (i) signalling events	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA	GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPSM1			https://www.ncbi.nlm.nih.gov/omim/?term=609491	http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1	rs3812547	0.750799	0.7019	0.6864	1	0	0	exonic	exonic	exonic	GPSM1	GPSM1	ENSG00000160360	synonymous SNV	synonymous SNV	unknown	GPSM1:NM_001145638:exon14:c.G1851A:p.P617P,GPSM1:NM_001200003:exon4:c.G324A:p.P108P,GPSM1:NM_001145639:exon4:c.G324A:p.P108P,	GPSM1:uc011mdu.1:exon4:c.G324A:p.P108P,GPSM1:uc004che.2:exon3:c.G324A:p.P108P,GPSM1:uc022bpn.1:exon4:c.G324A:p.P108P,GPSM1:uc004chd.2:exon14:c.G1851A:p.P617P,	UNKNOWN	Het;G>A	433;30|21	Hom;G>A	1440;0|55
N	N	-	9	139443847	139443847	C	T	snp	ncRNA_exonic	 	 	 	 	NALT1																		rs2282183	0.586861	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_exonic	LINC01573	AX747706	ENSG00000237886	Na	Na	Na	Na	Na	Na	Het;C>T	88;6|5	Hom;C>T	162;0|6
N	N	-	9	139443956	139443956	G	A	snp	ncRNA_exonic	 	 	 	 	AX747706																		rs710411	0.563299	0	0	1	0	0	ncRNA_intronic	ncRNA_exonic	ncRNA_intronic	LINC01573	AX747706	ENSG00000237886	Na	Na	Na	Na	Na	Na	Het;G>A	292;16|14	Hom;G>A	1274;0|45
N	N	-	9	139616742	139616742	A	G	snp	nonsynonymous SNV	A472G	S158G	polar,hydrophilic,neutral	aliphatic,neutral	FAM69B	Fam69b	ENSG00000165716	family with sequence similarity 69 member B	chr9:139607022-139618502	This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]		 			GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM69B			https://www.ncbi.nlm.nih.gov/omim/?term=614543	http://www.informatics.jax.org/searchtool/Search.do?query=FAM69B&submit=Quick%0D%11611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM69B	rs945384	0.827077	0.8441	0.9227	0.15	2	13	exonic	exonic	exonic	FAM69B	FAM69B	ENSG00000165716	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM69B:NM_152421:exon4:c.A472G:p.S158G,	FAM69B:uc004cik.3:exon4:c.A472G:p.S158G,FAM69B:uc004cil.3:exon2:c.A211G:p.S71G,	UNKNOWN	Het;A>G	1457;95|71	Hom;A>G	4376;0|154
N	N	-	9	139616840	139616840	G	A	snp	ncRNA_exonic	 	 	 	 	SNHG7																		rs3739939	0.515974	0	0	1	0	0	intronic	ncRNA_exonic	ncRNA_exonic	FAM69B	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;G>A	411;19|17	Hom;G>A	918;0|33
N	N	-	9	139620311	139620311	A	G	snp	ncRNA_exonic	 	 	 	 	SNHG7																		rs4880136	0.462859	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;A>G	708;34|27	Hom;A>G	1981;0|64
N	N	-	9	139620988	139620990	CGT	C	indel	ncRNA_exonic	 	 	 	 	SNHG7																		rs10609067	0.908746	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;-GT	3727;94|99	Hom;-GT	7611;1|175
N	N	-	9	139620991	139620994	ACCT	A	indel	ncRNA_exonic	 	 	 	 	SNHG7																		rs10609068	0.908746	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;-CCT	3724;97|99	Hom;-CCT	7709;1|175
N	N	-	9	139620999	139620999	T	A	snp	ncRNA_exonic	 	 	 	 	SNHG7																		rs4880065	0	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;T>A	3655;85|93	Hom;T>A	7437;1|168
N	N	-	9	139621168	139621168	G	A	snp	ncRNA_exonic	 	 	 	 	SNHG7																		rs2275160	0.46226	0.4336	0.5024	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;G>A	1108;88|58	Hom;G>A	3710;2|138
N	N	-	9	139622402	139622402	C	G	snp	ncRNA_exonic	 	 	 	 	SNHG7																		rs2105078	0.778355	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;C>G	260;14|12	Hom;C>G	1023;0|39
N	N	-	9	139622450	139622450	G	T	snp	ncRNA_exonic	 	 	 	 	SNHG7																		rs2275158	0.46266	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;G>T	185;3|8	Hom;G>T	782;0|30
N	N	-	9	139622646	139622646	G	A	snp	upstream	 	 	 	 	SNHG7																		rs9411221	0.46266	0	0	1	0	0	upstream	upstream	upstream	SNHG7	SNHG7	ENSG00000233016	Na	Na	Na	Na	Na	Na	Het;G>A	441;26|24	Hom;G>A	1028;2|43
N	N	-	9	139639532	139639571	CGGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT	C	indel	intronic	 	 	 	 	LCN6	Lcn6	ENSG00000267206	lipocalin 6	chr9:139638463-139642980			Mice with loss of expression in the testes show premature acrosome reaction and elevated intracellular calcium levels in sperm.		GO:0007338;single fertilization;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LCN6			https://www.ncbi.nlm.nih.gov/omim/?term=609379	http://www.informatics.jax.org/searchtool/Search.do?query=LCN6&submit=Quick%0D%20649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN6	rs145717467	0.54353	0	0	1	0	0	intronic	intronic	intronic	LCN6	LCN6	ENSG00000204003,ENSG00000267206	Na	Na	Na	Na	Na	Na	Het;-GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT	822;26|23	Hom;-GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT	2691;0|61
N	N	-	9	139642961	139642961	G	A	snp	ncRNA_exonic	 	 	 	 	LOC100128593																		rs2811728	0.445487	0.4033	0.5133	1	0	0	ncRNA_exonic	ncRNA_exonic	UTR5	LOC100128593	LOC100128593	ENSG00000267206(ENST00000341206:c.-26C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	1937;97|87	Hom;G>A	4813;0|173
N	N	-	9	139643531	139643531	G	T	snp	ncRNA_exonic	 	 	 	 	LOC100128593																		rs945379	0.545327	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	LOC100128593	LOC100128593	ENSG00000204003,ENSG00000267206	Na	Na	Na	Na	Na	Na	Het;G>T	837;36|38	Hom;G>T	1808;0|68
N	N	-	9	139643832	139643832	C	T	snp	ncRNA_exonic	 	 	 	 	LOC100128593																		rs2784071	0.53095	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	upstream	LOC100128593	LOC100128593	ENSG00000204003,ENSG00000267206	Na	Na	Na	Na	Na	Na	Het;C>T	887;55|42	Hom;C>T	2647;0|99
N	N	-	9	139649580	139649580	G	A	snp	intronic	 	 	 	 	LCN8	Lcn8	ENSG00000204001	lipocalin 8	chr9:139648838-139652678	Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]		 		GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LCN8			https://www.ncbi.nlm.nih.gov/omim/?term=612902	http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8	rs879467	0.540136	0.5753	0.6704	1	0	0	intronic	intronic	intronic	LCN8	LCN8	ENSG00000204001	Na	Na	Na	Na	Na	Na	Het;G>A	506;24|23	Hom;G>A	980;0|37
N	N	-	9	139650060	139650060	C	A	snp	intronic	 	 	 	 	LCN8	Lcn8	ENSG00000204001	lipocalin 8	chr9:139648838-139652678	Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]		 		GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LCN8			https://www.ncbi.nlm.nih.gov/omim/?term=612902	http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8	rs2784068	0.544329	0	0	1	0	0	intronic	intronic	intronic	LCN8	LCN8	ENSG00000204001	Na	Na	Na	Na	Na	Na	Het;C>A	188;19|11	Hom;C>A	740;0|25
N	N	-	9	139651163	139651163	A	AG	indel	intronic	 	 	 	 	LCN8	Lcn8	ENSG00000204001	lipocalin 8	chr9:139648838-139652678	Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]		 		GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LCN8			https://www.ncbi.nlm.nih.gov/omim/?term=612902	http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8	rs397799985	0.695088	0	0	1	0	0	intronic	intronic	intronic	LCN8	LCN8	ENSG00000204001	Na	Na	Na	Na	Na	Na	Het;+G	85;3|4	Hom;+G	284;0|9
N	N	-	9	139652338	139652338	C	G	snp	intronic	 	 	 	 	LCN8	Lcn8	ENSG00000204001	lipocalin 8	chr9:139648838-139652678	Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]		 		GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LCN8			https://www.ncbi.nlm.nih.gov/omim/?term=612902	http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8	rs9411272	0.54373	0.5792	0.6225	1	0	0	intronic	intronic	intronic	LCN8	LCN8	ENSG00000204001	Na	Na	Na	Na	Na	Na	Het;C>G	426;26|23	Hom;C>G	1179;0|45
N	N	-	9	139653055	139653055	C	T	snp	upstream	 	 	 	 	LCN8	Lcn8	ENSG00000204001	lipocalin 8	chr9:139648838-139652678	Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]		 		GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LCN8			https://www.ncbi.nlm.nih.gov/omim/?term=612902	http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8	rs11145867	0.512979	0	0	1	0	0	upstream	upstream	upstream	LCN8	LCN8	ENSG00000204001	Na	Na	Na	Na	Na	Na	Het;C>T	187;9|9	Hom;C>T	754;0|26
N	N	-	9	139653899	139653899	A	T	snp	downstream	 	 	 	 	LCN15	Gm33749	ENSG00000177984	lipocalin 15	chr9:139654086-139660707			 	Transport of fatty acids	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA	GO:0005576;extracellular region;IEA	GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LCN15				http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15	rs4880069	0	0	0	1	0	0	downstream	downstream	downstream	LCN15	LCN15	ENSG00000177984	Na	Na	Na	Na	Na	Na	Het;A>T	68;5|6	Hom;A>T	116;0|5
N	N	-	9	139656670	139656670	T	C	snp	nonsynonymous SNV	A490G	K164E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	LCN15	Gm33749	ENSG00000177984	lipocalin 15	chr9:139654086-139660707			 	Transport of fatty acids	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA	GO:0005576;extracellular region;IEA	GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LCN15				http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15	rs2297722	0.733027	0.7465	0.7512	0.08	1	13	exonic	exonic	exonic	LCN15	LCN15	ENSG00000177984	nonsynonymous SNV	nonsynonymous SNV	unknown	LCN15:NM_203347:exon5:c.A490G:p.K164E,	LCN15:uc004cjd.3:exon5:c.A490G:p.K164E,	UNKNOWN	Het;T>C	624;32|30	Hom;T>C	1359;0|49
N	N	-	9	139656706	139656706	A	C	snp	nonsynonymous SNV	T454G	S152A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	LCN15	Gm33749	ENSG00000177984	lipocalin 15	chr9:139654086-139660707			 	Transport of fatty acids	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA	GO:0005576;extracellular region;IEA	GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LCN15				http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15	rs2297723	0.733027	0.7474	0.7517	0.15	2	13	exonic	exonic	exonic	LCN15	LCN15	ENSG00000177984	nonsynonymous SNV	nonsynonymous SNV	unknown	LCN15:NM_203347:exon5:c.T454G:p.S152A,	LCN15:uc004cjd.3:exon5:c.T454G:p.S152A,	UNKNOWN	Het;A>C	761;34|38	Hom;A>C	1676;0|61
N	N	-	9	139657834	139657834	G	C	snp	synonymous SNV	C393G	A131A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LCN15	Gm33749	ENSG00000177984	lipocalin 15	chr9:139654086-139660707			 	Transport of fatty acids	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA	GO:0005576;extracellular region;IEA	GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LCN15				http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15	rs9987876	0.704273	0.7127	0.7351	1	0	0	exonic	exonic	exonic	LCN15	LCN15	ENSG00000177984	synonymous SNV	synonymous SNV	unknown	LCN15:NM_203347:exon4:c.C393G:p.A131A,	LCN15:uc004cjd.3:exon4:c.C393G:p.A131A,	UNKNOWN	Het;G>C	636;34|31	Hom;G>C	1841;0|65
N	N	-	9	139658051	139658051	G	T	snp	intronic	 	 	 	 	LCN15	Gm33749	ENSG00000177984	lipocalin 15	chr9:139654086-139660707			 	Transport of fatty acids	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA	GO:0005576;extracellular region;IEA	GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LCN15				http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15	rs4880070	0.694489	0	0	1	0	0	intronic	intronic	intronic	LCN15	LCN15	ENSG00000177984	Na	Na	Na	Na	Na	Na	Het;G>T	278;3|11	Hom;G>T	466;0|15
N	N	-	9	139658576	139658576	G	C	snp	intronic	 	 	 	 	LCN15	Gm33749	ENSG00000177984	lipocalin 15	chr9:139654086-139660707			 	Transport of fatty acids	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA	GO:0005576;extracellular region;IEA	GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LCN15				http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15	rs4880140	0.742612	0	0	1	0	0	intronic	intronic	intronic	LCN15	LCN15	ENSG00000177984	Na	Na	Na	Na	Na	Na	Het;G>C	105;7|4	Hom;G>C	755;0|21
N	N	-	9	139690840	139690840	G	A	snp	UTR5	-10G>A	 	 	 	KIAA1984																		rs1055995	0.535343	0.5199	0.6243	1	0	0	UTR5	UTR5	UTR5	CCDC183(NM_001039374:c.-10G>A)	KIAA1984(uc004cjf.3:c.-10G>A)	ENSG00000213213(ENST00000479371:c.-10G>A,ENST00000338005:c.-10G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	925;45|46	Hom;G>A	2495;0|90
N	N	-	9	139819984	139819984	C	T	snp	intronic	 	 	 	 	TRAF2	Traf2	ENSG00000127191	TNF receptor associated factor 2	chr9:139776364-139821059	The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]	Inflammation|Premature Birth; Alzheimer's disease; HIV; Type 2 Diabetes| edema | rosiglitazone; Bone Mineral Density; Retinopathy of Prematurity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; Multiple Myeloma; patent ductus arteriosus; Alzheimer's disease ; benzene haematotoxicity; Lymphoma, Non-Hodgkin	Increased lethaltiy is observed with homozygous null mice. Offspring are runted and exhibit atrophic thymii and spleens with reduced numbers of lymphocytes.	TRAF6 mediated NF-kB activation	GO:0002726;positive regulation of T cell cytokine production;IMP|GO:0006461;protein complex assembly;TAS|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0007165;signal transduction;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007250;activation of NF-kappaB-inducing kinase activity;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0034351;negative regulation of glial cell apoptotic process;IEA|GO:0034976;response to endoplasmic reticulum stress;NAS|GO:0042981;regulation of apoptotic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043507;positive regulation of JUN kinase activity;IDA|GO:0043623;cellular protein complex assembly;ISS|GO:0046328;regulation of JNK cascade;IEA|GO:0050870;positive regulation of T cell activation;IC|GO:0051023;regulation of immunoglobulin secretion;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051291;protein heterooligomerization;IEA|GO:0051865;protein autoubiquitination;IEA|GO:0060544;regulation of necroptotic process;TAS|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;TAS|GO:0070207;protein homotrimerization;IPI|GO:0070534;protein K63-linked ubiquitination;IDA|GO:0071550;death-inducing signaling complex assembly;TAS|GO:0071732;cellular response to nitric oxide;IEA|GO:0090073;positive regulation of protein homodimerization activity;IMP|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;TAS|GO:0097300;programmed necrotic cell death;IEA|GO:1901215;negative regulation of neuron death;TAS|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1903265;positive regulation of tumor necrosis factor-mediated signaling pathway;IEA|GO:1903721;positive regulation of I-kappaB phosphorylation;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP	GO:0000151;ubiquitin ligase complex;IPI|GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IEA|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0012506;vesicle membrane;IEA|GO:0035631;CD40 receptor complex;ISS|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0097057;TRAF2-GSTP1 complex;IDA|GO:1990597;AIP1-IRE1 complex;IEA|GO:1990604;IRE1-TRAF2-ASK1 complex;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0004871;signal transducer activity;NAS|GO:0005102;receptor binding;IEA|GO:0005164;tumor necrosis factor receptor binding;IPI|GO:0005174;CD40 receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008289;lipid binding;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019903;protein phosphatase binding;IPI|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0031996;thioesterase binding;IPI|GO:0032403;protein complex binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046625;sphingolipid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRAF2	https://www.uniprot.org/uniprot/Q12933		https://www.ncbi.nlm.nih.gov/omim/?term=601895	http://www.informatics.jax.org/searchtool/Search.do?query=TRAF2&submit=Quick%0D%6012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAF2	rs12554888	0.292133	0	0	1	0	0	intronic	intronic	intronic	TRAF2	TRAF2	ENSG00000127191	Na	Na	Na	Na	Na	Na	Het;C>T	73;5|4	Hom;C>T	109;0|5
N	N	-	9	139845481	139845481	C	T	snp	intronic	 	 	 	 	LCN12	Lcn12	ENSG00000184925	lipocalin 12	chr9:139844003-139849949	Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]		 	Transport of fatty acids	GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0015909;long-chain fatty acid transport;TAS	GO:0005576;extracellular region;TAS	GO:0001972;retinoic acid binding;ISS|GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LCN12			https://www.ncbi.nlm.nih.gov/omim/?term=612905	http://www.informatics.jax.org/searchtool/Search.do?query=LCN12&submit=Quick%0D%15298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN12	rs367612770	0.0213658	0	0	1	0	0	intergenic	intronic	intergenic	C8G(dist=4055),LCN12(dist=1287)	LCN12	ENSG00000176919(dist=4062),ENSG00000184925(dist=1299)	Na	Na	Na	Na	Na	Na	Het;C>T	42;3|3	Hom;C>T	152;0|4
N	N	-	9	140005916	140005916	G	A	snp	intronic	 	 	 	 	DPP7	Dpp7	ENSG00000176978	dipeptidyl peptidase 7	chr9:140004994-140009629	The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008]		 	Neutrophil degranulation	GO:0006508;proteolysis;IEA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0008239;dipeptidyl-peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DPP7			https://www.ncbi.nlm.nih.gov/omim/?term=610537	http://www.informatics.jax.org/searchtool/Search.do?query=DPP7&submit=Quick%0D%13948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP7	rs72763269	0.245407	0	0	1	0	0	intronic	intronic	intronic	DPP7	DPP7	ENSG00000176978	Na	Na	Na	Na	Na	Na	Het;G>A	46;1|3	Hom;G>A	56;0|3
N	N	-	9	140108915	140108917	CTG	C	indel	intronic	 	 	 	 	NDOR1	Ndor1	ENSG00000188566	NADPH dependent diflavin oxidoreductase 1	chr9:140100147-140111461	This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]		 	Cytosolic iron-sulfur cluster assembly	GO:0008219;cell death;IDA|GO:0036245;cellular response to menadione;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003958;NADPH-hemoprotein reductase activity;IEA|GO:0005515;protein binding;IPI|GO:0010181;FMN binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0050661;NADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NDOR1			https://www.ncbi.nlm.nih.gov/omim/?term=606073	http://www.informatics.jax.org/searchtool/Search.do?query=NDOR1&submit=Quick%0D%16057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDOR1	rs149701237	0.665735	0.6584	0.6732	1	0	0	intronic	intronic	intronic	NDOR1	NDOR1	ENSG00000188566	Na	Na	Na	Na	Na	Na	Het;-TG	257;28|9	Hom;-TG	1383;0|32
N	N	-	9	140110274	140110274	T	C	snp	intronic	 	 	 	 	NDOR1	Ndor1	ENSG00000188566	NADPH dependent diflavin oxidoreductase 1	chr9:140100147-140111461	This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]		 	Cytosolic iron-sulfur cluster assembly	GO:0008219;cell death;IDA|GO:0036245;cellular response to menadione;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003958;NADPH-hemoprotein reductase activity;IEA|GO:0005515;protein binding;IPI|GO:0010181;FMN binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0050661;NADP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NDOR1			https://www.ncbi.nlm.nih.gov/omim/?term=606073	http://www.informatics.jax.org/searchtool/Search.do?query=NDOR1&submit=Quick%0D%16057ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDOR1	rs7390663	0.899161	0.8690	0.8635	1	0	0	intronic	intronic	intronic	NDOR1	NDOR1	ENSG00000188566	Na	Na	Na	Na	Na	Na	Het;T>C	1505;80|69	Hom;T>C	3823;1|138
N	N	-	9	140120396	140120396	C	T	snp	nonsynonymous SNV	C443T	A148V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CYSRT1	Cysrt1																	rs6606566	0.841853	0.8166	0.8399	0.17	2	12	exonic	exonic	exonic	CYSRT1	C9orf169	ENSG00000197191	nonsynonymous SNV	nonsynonymous SNV	unknown	CYSRT1:NM_199001:exon2:c.C443T:p.A148V,	C9orf169:uc004cmb.3:exon2:c.C323T:p.A108V,C9orf169:uc022bqd.1:exon1:c.C323T:p.A108V,	UNKNOWN	Het;C>T	336;37|18	Hom;C>T	1303;0|50
N	N	-	9	140122464	140122464	T	G	snp	intronic	 	 	 	 	RNF224	Rnf224	ENSG00000233198	ring finger protein 224	chr9:140122018-140124090			 				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF224				http://www.informatics.jax.org/searchtool/Search.do?query=RNF224&submit=Quick%0D%19167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF224	rs28711320	0.838858	0	0	1	0	0	intronic	intronic	intronic	RNF224	RNF224	ENSG00000233198	Na	Na	Na	Na	Na	Na	Het;T>G	39;4|1	Hom;T>G	322;0|8
N	N	-	9	140122485	140122485	A	G	snp	intronic	 	 	 	 	RNF224	Rnf224	ENSG00000233198	ring finger protein 224	chr9:140122018-140124090			 				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF224				http://www.informatics.jax.org/searchtool/Search.do?query=RNF224&submit=Quick%0D%19167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF224	rs28637190	0.847644	0	0	1	0	0	intronic	intronic	intronic	RNF224	RNF224	ENSG00000233198	Na	Na	Na	Na	Na	Na	Het;A>G	39;4|2	Hom;A>G	327;0|8
N	N	-	9	140130606	140130606	A	T	snp	nonsynonymous SNV	A1538T	E513V	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	SLC34A3	Slc34a3	ENSG00000198569	solute carrier family 34 member 3	chr9:140125209-140131006	This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA HEREDITARY	Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification,  rickets, or osteomalacia.	Type II Na+/Pi cotransporters	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IDA|GO:0006817;phosphate ion transport;IDA|GO:0030643;cellular phosphate ion homeostasis;IDA|GO:0035435;phosphate ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0044341;sodium-dependent phosphate transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0031526;brush border membrane;IEA|GO:0031982;vesicle;IBA	GO:0005436;sodium:phosphate symporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015321;sodium-dependent phosphate transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC34A3		https://hpo.jax.org/app/browse/search?q=SLC34A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609826	http://www.informatics.jax.org/searchtool/Search.do?query=SLC34A3&submit=Quick%0D%16928ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC34A3	rs28542318	0.946086	0.8869	0.8831	0.15	2	13	exonic	exonic	exonic	SLC34A3	SLC34A3	ENSG00000198569	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC34A3:NM_001177317:exon13:c.A1538T:p.E513V,SLC34A3:NM_080877:exon13:c.A1538T:p.E513V,SLC34A3:NM_001177316:exon13:c.A1538T:p.E513V,	SLC34A3:uc004cmf.1:exon13:c.A1538T:p.E513V,SLC34A3:uc022bqf.1:exon13:c.A1538T:p.E513V,SLC34A3:uc011met.2:exon13:c.A1538T:p.E513V,	UNKNOWN	Het;A>T	1966;66|93	Hom;A>T	3790;0|142
N	N	-	9	140682607	140682607	T	C	snp	ncRNA_exonic	 	 	 	 	AL590627.1																		rs4333684	0.571486	0	0	1	0	0	intronic	intronic	ncRNA_exonic	EHMT1	EHMT1	ENSG00000255585	Na	Na	Na	Na	Na	Na	Het;T>C	64;5|4	Hom;T>C	243;0|9
N	N	-	9	140705796	140705796	G	A	snp	intronic	 	 	 	 	EHMT1	Ehmt1	ENSG00000181090	euchromatic histone lysine methyltransferase 1	chr9:140513444-140764468	The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer	Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death.	Regulation of TP53 Activity through Methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EHMT1		https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607001	http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1	rs11789631	0.522963	0	0	1	0	0	intronic	intronic	intronic	EHMT1	EHMT1	ENSG00000181090	Na	Na	Na	Na	Na	Na	Het;G>A	96;2|4	Hom;G>A	174;0|7
N	N	-	9	140706127	140706127	G	A	snp	intronic	 	 	 	 	EHMT1	Ehmt1	ENSG00000181090	euchromatic histone lysine methyltransferase 1	chr9:140513444-140764468	The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer	Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death.	Regulation of TP53 Activity through Methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EHMT1		https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607001	http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1	rs11789684	0.530152	0	0	1	0	0	intronic	intronic	intronic	EHMT1	EHMT1	ENSG00000181090	Na	Na	Na	Na	Na	Na	Het;G>A	817;68|44	Hom;G>A	1927;0|71
N	N	-	9	140708768	140708768	T	G	snp	intronic	 	 	 	 	EHMT1	Ehmt1	ENSG00000181090	euchromatic histone lysine methyltransferase 1	chr9:140513444-140764468	The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]	overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer	Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death.	Regulation of TP53 Activity through Methylation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA	GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EHMT1		https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607001	http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1	rs7851955	0.521965	0	0	1	0	0	intronic	intronic	intronic	EHMT1	EHMT1	ENSG00000181090	Na	Na	Na	Na	Na	Na	Het;T>G	367;8|11	Hom;T>G	609;0|16
N	N	-	9	140773764	140773764	C	G	snp	ncRNA_intronic	 	 	 	 	AK128414																		rs41289997	0.10643	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC100133077	AK128414	ENSG00000203987	Na	Na	Na	Na	Na	Na	Het;C>G	182;10|8	Hom;C>G	528;0|16
N	N	-	9	140777370	140777370	A	C	snp	ncRNA_exonic	 	 	 	 	LOC100133077																		rs1110146	0	0.6095	0.5581	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC100133077	AK128414	ENSG00000203987	Na	Na	Na	Na	Na	Na	Het;A>C	3432;57|147	Hom;A>C	5631;0|207
N	N	-	9	141030078	141030078	G	A	snp	intergenic	 	 	 	 	CACNA1B	Cacna1b	ENSG00000148408	calcium voltage-gated channel subunit alpha1 B	chr9:140772241-141019076	The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]	Schizophrenia; Tobacco Use Disorder; Body Height; schizophrenia | bipolar disorder	Mice deficient in this gene exhibit defects in nociception, memory and learning.  They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle.  Deficits in the sympathetic nervous system results in defects in circulatory regulation.	Presynaptic depolarization and calcium channel opening	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;IEA|GO:0007626;locomotory behavior;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0048265;response to pain;IEA|GO:0051899;membrane depolarization;TAS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1B	https://www.uniprot.org/uniprot/Q00975	https://hpo.jax.org/app/browse/search?q=CACNA1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601012	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1B&submit=Quick%0D%9117ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1B	rs11137380	0.319289	0	0	1	0	0	intergenic	intergenic	intergenic	CACNA1B(dist=11002),TUBBP5(dist=14487)	CACNA1B(dist=11002),TUBBP5(dist=14487)	ENSG00000148408(dist=11002),ENSG00000229926(dist=1469)	Na	Na	Na	Na	Na	Na	Het;G>A	911;53|49	Hom;G>A	2201;0|86
N	N	-	9	141031439	141031439	C	T	snp	upstream	 	 	 	 	AL591424.1																		rs56009993	0.140375	0	0	1	0	0	intergenic	intergenic	upstream	CACNA1B(dist=12363),TUBBP5(dist=13126)	CACNA1B(dist=12363),TUBBP5(dist=13126)	ENSG00000229926	Na	Na	Na	Na	Na	Na	Het;C>T	159;7|7	Hom;C>T	533;0|17
N	N	-	9	141035901	141035901	A	G	snp	ncRNA_exonic	 	 	 	 	AL591424.1																		rs2509413	0.500399	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CACNA1B(dist=16825),TUBBP5(dist=8664)	CACNA1B(dist=16825),TUBBP5(dist=8664)	ENSG00000229926	Na	Na	Na	Na	Na	Na	Het;A>G	126;4|7	Hom;A>G	274;0|9
N	N	-	9	141038018	141038018	G	A	snp	ncRNA_exonic	 	 	 	 	AL591424.1																		rs60011774	0.396565	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CACNA1B(dist=18942),TUBBP5(dist=6547)	CACNA1B(dist=18942),TUBBP5(dist=6547)	ENSG00000229926	Na	Na	Na	Na	Na	Na	Het;G>A	359;23|11	Hom;G>A	917;0|21
N	N	-	9	141038040	141038041	GC	G	indel	ncRNA_exonic	 	 	 	 	AL591424.1																		rs57421978	0.324081	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CACNA1B(dist=18964),TUBBP5(dist=6524)	CACNA1B(dist=18964),TUBBP5(dist=6524)	ENSG00000229926	Na	Na	Na	Na	Na	Na	Het;-C	462;25|14	Hom;-C	1228;0|29
N	N	-	9	141044632	141044632	C	T	snp	ncRNA_exonic	 	 	 	 	TUBBP5																		rs3004663	0.463858	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	TUBBP5	TUBBP5(uc010ncq.3:c.-24510C>T)	ENSG00000159247	Na	Na	Na	Na	Na	Na	Het;C>T	665;35|35	Hom;C>T	1798;0|65
N	N	-	9	141044672	141044672	G	A	snp	ncRNA_exonic	 	 	 	 	TUBBP5																		rs11137386	0.33746	0	0	1	0	0	ncRNA_exonic	UTR5	ncRNA_exonic	TUBBP5	TUBBP5(uc010ncq.3:c.-24470G>A)	ENSG00000159247	Na	Na	Na	Na	Na	Na	Het;G>A	767;33|38	Hom;G>A	1999;0|73
N	N	-	9	141053531	141053531	G	A	snp	ncRNA_intronic	 	 	 	 	TUBBP5																		rs6559269	0.605831	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	TUBBP5	TUBBP5	ENSG00000159247	Na	Na	Na	Na	Na	Na	Het;G>A	166;12|10	Hom;G>A	602;0|25
N	N	-	9	141069521	141069521	T	C	snp	ncRNA_exonic	 	 	 	 	TUBBP5																		rs13297914	0.322085	0	0	1	0	0	ncRNA_intronic	intronic	ncRNA_exonic	TUBBP5	TUBBP5	ENSG00000159247	Na	Na	Na	Na	Na	Na	Het;T>C	76;7|5	Hom;T>C	202;0|8
N	N	-	9	141070125	141070125	C	T	snp	nonsynonymous SNV	C365T	P122L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TUBBP5																		rs10867114	0.322484	0	0.4172	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	TUBBP5	TUBBP5	ENSG00000159247	Na	nonsynonymous SNV	Na	Na	TUBBP5:uc010ncq.3:exon4:c.C365T:p.P122L,	Na	Het;C>T	1959;84|81	Hom;C>T	4400;2|150
N	N	-	9	141070950	141070950	A	G	snp	ncRNA_exonic	 	 	 	 	TUBBP5																		rs77284214	0.311901	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	TUBBP5	TUBBP5(uc010ncq.3:c.*195A>G)	ENSG00000159247	Na	Na	Na	Na	Na	Na	Het;A>G	185;43|15	Hom;A>G	1147;2|46
N	N	-	9	141071552	141071552	C	T	snp	ncRNA_exonic	 	 	 	 	TUBBP5																		rs11137403	0.324281	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	TUBBP5	TUBBP5(uc010ncq.3:c.*797C>T)	ENSG00000159247	Na	Na	Na	Na	Na	Na	Het;C>T	2298;103|107	Hom;C>T	5047;0|186
N	N	-	9	141072872	141072872	G	A	snp	downstream	 	 	 	 	TUBBP5																		rs7859726	0.33726	0	0	1	0	0	downstream	downstream	intergenic	TUBBP5	TUBBP5	ENSG00000159247(dist=1051),ENSG00000237419(dist=17511)	Na	Na	Na	Na	Na	Na	Het;G>A	127;2|7	Hom;G>A	243;0|10
N	N	-	9	141073676	141073676	G	C	snp	intergenic	 	 	 	 	TUBBP5																		rs10780203	0.301318	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=1791),FAM157B(dist=32961)	TUBBP5(dist=1791),FAM157B(dist=32961)	ENSG00000159247(dist=1855),ENSG00000237419(dist=16707)	Na	Na	Na	Na	Na	Na	Het;G>C	140;2|8	Hom;G>C	446;0|15
N	N	-	9	141075150	141075150	C	T	snp	intergenic	 	 	 	 	TUBBP5																		rs11137405	0.300719	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3265),FAM157B(dist=31487)	TUBBP5(dist=3265),FAM157B(dist=31487)	ENSG00000159247(dist=3329),ENSG00000237419(dist=15233)	Na	Na	Na	Na	Na	Na	Het;C>T	62;2|4	Hom;C>T	143;0|6
N	N	-	9	141075237	141075237	C	G	snp	intergenic	 	 	 	 	TUBBP5																		rs11137406	0.302117	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3352),FAM157B(dist=31400)	TUBBP5(dist=3352),FAM157B(dist=31400)	ENSG00000159247(dist=3416),ENSG00000237419(dist=15146)	Na	Na	Na	Na	Na	Na	Het;C>G	230;9|12	Hom;C>G	402;0|16
N	N	-	9	141075453	141075453	G	A	snp	intergenic	 	 	 	 	TUBBP5																		rs78900641	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3568),FAM157B(dist=31184)	TUBBP5(dist=3568),FAM157B(dist=31184)	ENSG00000159247(dist=3632),ENSG00000237419(dist=14930)	Na	Na	Na	Na	Na	Na	Het;G>A	248;6|12	Hom;G>A	512;1|20
N	N	-	9	141075525	141075525	G	T	snp	intergenic	 	 	 	 	TUBBP5																		rs78640835	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3640),FAM157B(dist=31112)	TUBBP5(dist=3640),FAM157B(dist=31112)	ENSG00000159247(dist=3704),ENSG00000237419(dist=14858)	Na	Na	Na	Na	Na	Na	Het;G>T	1091;9|29	Hom;G>T	1595;0|57
N	N	-	9	141075547	141075547	A	G	snp	intergenic	 	 	 	 	TUBBP5																		rs73668515	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3662),FAM157B(dist=31090)	TUBBP5(dist=3662),FAM157B(dist=31090)	ENSG00000159247(dist=3726),ENSG00000237419(dist=14836)	Na	Na	Na	Na	Na	Na	Het;A>G	1051;8|27	Hom;A>G	1488;0|59
N	N	-	9	141075573	141075573	G	A	snp	intergenic	 	 	 	 	TUBBP5																		rs77706657	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3688),FAM157B(dist=31064)	TUBBP5(dist=3688),FAM157B(dist=31064)	ENSG00000159247(dist=3752),ENSG00000237419(dist=14810)	Na	Na	Na	Na	Na	Na	Het;G>A	610;6|22	Hom;G>A	1419;0|49
N	N	-	9	141075606	141075606	A	G	snp	intergenic	 	 	 	 	TUBBP5																		rs76018573	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3721),FAM157B(dist=31031)	TUBBP5(dist=3721),FAM157B(dist=31031)	ENSG00000159247(dist=3785),ENSG00000237419(dist=14777)	Na	Na	Na	Na	Na	Na	Het;A>G	417;6|12	Hom;A>G	1327;0|31
N	N	-	9	141075613	141075613	T	C	snp	intergenic	 	 	 	 	TUBBP5																		rs79012897	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3728),FAM157B(dist=31024)	TUBBP5(dist=3728),FAM157B(dist=31024)	ENSG00000159247(dist=3792),ENSG00000237419(dist=14770)	Na	Na	Na	Na	Na	Na	Het;T>C	374;6|10	Hom;T>C	1212;0|27
N	N	-	9	141075630	141075630	G	A	snp	intergenic	 	 	 	 	TUBBP5																		rs77613163	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3745),FAM157B(dist=31007)	TUBBP5(dist=3745),FAM157B(dist=31007)	ENSG00000159247(dist=3809),ENSG00000237419(dist=14753)	Na	Na	Na	Na	Na	Na	Het;G>A	173;3|5	Hom;G>A	651;0|16
N	N	-	9	141075665	141075665	C	A	snp	intergenic	 	 	 	 	TUBBP5																		rs79144682	0	0	0	1	0	0	intergenic	intergenic	intergenic	TUBBP5(dist=3780),FAM157B(dist=30972)	TUBBP5(dist=3780),FAM157B(dist=30972)	ENSG00000159247(dist=3844),ENSG00000237419(dist=14718)	Na	Na	Na	Na	Na	Na	Het;C>A	92;2|3	Hom;C>A	132;0|4
N	N	-	9	141090284	141090284	C	G	snp	downstream	 	 	 	 	AL954642.1																		rs12378912	0.33107	0	0	1	0	0	intergenic	intergenic	downstream	TUBBP5(dist=18399),FAM157B(dist=16353)	TUBBP5(dist=18399),FAM157B(dist=16353)	ENSG00000237419	Na	Na	Na	Na	Na	Na	Het;C>G	108;2|4	Hom;C>G	130;0|4
N	N	-	9	141090404	141090404	A	G	snp	ncRNA_exonic	 	 	 	 	AL954642.1																		rs71512819	0.331669	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	TUBBP5(dist=18519),FAM157B(dist=16233)	TUBBP5(dist=18519),FAM157B(dist=16233)	ENSG00000237419	Na	Na	Na	Na	Na	Na	Het;A>G	1078;48|51	Hom;A>G	2258;1|81
N	N	-	9	14846036	14846036	C	G	snp	nonsynonymous SNV	G1315C	V439L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FREM1	Frem1	ENSG00000164946	FRAS1 related extracellular matrix 1	chr9:14734664-14910993	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]	Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height	Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.		GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FREM1		https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608944	http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1	rs2779500	0.500799	0.5671	0.6009	0.23	3	13	exonic	exonic	exonic	FREM1	FREM1	ENSG00000164946	nonsynonymous SNV	nonsynonymous SNV	unknown	FREM1:NM_144966:exon9:c.G1315C:p.V439L,	FREM1:uc003zlm.3:exon9:c.G1315C:p.V439L,	UNKNOWN	Het;C>G	1350;89|67	Hom;C>G	4786;0|174
N	N	-	9	14846122	14846122	C	G	snp	intronic	 	 	 	 	FREM1	Frem1	ENSG00000164946	FRAS1 related extracellular matrix 1	chr9:14734664-14910993	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]	Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height	Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.		GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FREM1		https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608944	http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1	rs2642404	0.898962	0.8330	0.8428	1	0	0	intronic	intronic	intronic	FREM1	FREM1	ENSG00000164946	Na	Na	Na	Na	Na	Na	Het;C>G	722;62|36	Hom;C>G	2561;0|90
N	N	-	9	14848892	14848892	A	G	snp	intronic	 	 	 	 	FREM1	Frem1	ENSG00000164946	FRAS1 related extracellular matrix 1	chr9:14734664-14910993	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]	Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height	Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.		GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FREM1		https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608944	http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1	rs1021493	0.910144	0	0	1	0	0	intronic	intronic	intronic	FREM1	FREM1	ENSG00000164946	Na	Na	Na	Na	Na	Na	Het;A>G	57;11|4	Hom;A>G	500;0|15
N	N	-	9	14851617	14851617	T	C	snp	intronic	 	 	 	 	FREM1	Frem1	ENSG00000164946	FRAS1 related extracellular matrix 1	chr9:14734664-14910993	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]	Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height	Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.		GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FREM1		https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608944	http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1	rs2818940	0.769569	0.7275	0.8054	1	0	0	intronic	intronic	intronic	FREM1	FREM1	ENSG00000164946	Na	Na	Na	Na	Na	Na	Het;T>C	989;37|43	Hom;T>C	1875;0|60
N	N	-	9	14851703	14851703	G	A	snp	intronic	 	 	 	 	FREM1	Frem1	ENSG00000164946	FRAS1 related extracellular matrix 1	chr9:14734664-14910993	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]	Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height	Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.		GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FREM1		https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608944	http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1	rs729492	0.667931	0	0	1	0	0	intronic	intronic	intronic	FREM1	FREM1	ENSG00000164946	Na	Na	Na	Na	Na	Na	Het;G>A	185;6|8	Hom;G>A	261;0|9
N	N	-	9	15056034	15056034	G	C	snp	ncRNA_exonic	 	 	 	 	AL592293.2																		rs4740598	0.73742	0	0	1	0	0	intergenic	ncRNA_intronic	ncRNA_exonic	LOC389705(dist=36312),TTC39B(dist=114808)	AK127963	ENSG00000234297	Na	Na	Na	Na	Na	Na	Het;G>C	559;23|24	Hom;G>C	1840;0|63
N	N	-	9	17457854	17457854	A	G	snp	intronic	 	 	 	 	CNTLN	Cntln	ENSG00000044459	centlein	chr9:17134980-17503921		Type 2 Diabetes| edema | rosiglitazone; Heart Diseases; Stroke; Asthma; Tobacco Use Disorder; Gout	 		GO:0010457;centriole-centriole cohesion;IMP|GO:0033365;protein localization to organelle;IMP	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA	GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0030674;protein binding, bridging;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CNTLN	https://www.uniprot.org/uniprot/Q9NXG0		https://www.ncbi.nlm.nih.gov/omim/?term=611870	http://www.informatics.jax.org/searchtool/Search.do?query=CNTLN&submit=Quick%0D%853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTLN	rs2197152	0.694089	0	0	1	0	0	intronic	intronic	intronic	CNTLN	CNTLN	ENSG00000044459	Na	Na	Na	Na	Na	Na	Het;A>G	68;1|3	Hom;A>G	207;0|6
N	N	-	9	17845673	17845673	G	GT	indel	intergenic	 	 	 	 	SH3GL2	Sh3gl2	ENSG00000107295	SH3 domain containing GRB2 like 2, endophilin A1	chr9:17579080-17797127		Walking; Multiple Sclerosis; Iron; Psychomotor Performance; Respiratory Function Tests; Creatinine; Cognitive performance; Cardiomegaly; Carotid artery stenosis|Carotid Stenosis; multiple sclerosis; Heart Failure; Parkinson Disease; Leprosy; Echocardiography; Neoplasms; Tobacco Use Disorder; Apolipoproteins B; Follicle Stimulating Hormone; smoking cessation; Pulse	Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling.	InlB-mediated entry of Listeria monocytogenes into host cell	GO:0002090;regulation of receptor internalization;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS|GO:0016191;synaptic vesicle uncoating;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0031175;neuron projection development;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0048488;synaptic vesicle endocytosis;IEA|GO:0061024;membrane organization;TAS|GO:0097484;dendrite extension;IEA|GO:1990416;cellular response to brain-derived neurotrophic factor stimulus;IEA	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SH3GL2	https://www.uniprot.org/uniprot/Q99962		https://www.ncbi.nlm.nih.gov/omim/?term=604465	http://www.informatics.jax.org/searchtool/Search.do?query=SH3GL2&submit=Quick%0D%3597ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3GL2	rs11463829	0.58107	0	0	1	0	0	intergenic	intergenic	intergenic	SH3GL2(dist=48547),ADAMTSL1(dist=628406)	SH3GL2(dist=48551),ADAMTSL1(dist=628406)	ENSG00000107295(dist=48546),ENSG00000227167(dist=514922)	Na	Na	Na	Na	Na	Na	Het;+T	189;2|10	Hom;+T	188;1|9
N	N	-	9	18680679	18680679	C	G	snp	UTR3	*135C>G	 	 	 	ADAMTSL1	Adamtsl1	ENSG00000178031	ADAMTS like 1	chr9:18473892-18910948	This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]	Myocardial Infarction; Tobacco Use Disorder; Cholesterol, LDL; Asthma|Hypersensitivity, Immediate; Parkinson Disease; Hip; Blood Pressure Determination; Type 2 Diabetes| edema | rosiglitazone; Cholesterol	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA|GO:0036066;protein O-linked fucosylation;TAS	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL1		https://hpo.jax.org/app/browse/search?q=ADAMTSL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609198	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL1&submit=Quick%0D%14123ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL1	rs1412672	0.182907	0	0	1	0	0	intronic	UTR3	UTR3	ADAMTSL1	ADAMTSL1(uc003znb.3:c.*135C>G)	ENSG00000178031(ENST00000380566:c.*135C>G)	Na	Na	Na	Na	Na	Na	Het;C>G	37;3|2	Hom;C>G	83;0|3
N	N	-	9	18718280	18718280	A	G	snp	ncRNA_exonic	 	 	 	 	RAP1BP1																		rs4977340	0.575879	0	0	1	0	0	intronic	intronic	ncRNA_exonic	ADAMTSL1	ADAMTSL1	ENSG00000236857	Na	Na	Na	Na	Na	Na	Het;A>G	97;8|5	Hom;A>G	349;1|14
N	N	-	9	18928039	18928039	A	G	snp	UTR3	*11T>C	 	 	 	SAXO1	Saxo1																	rs1052448	0.123003	0.1196	0.1608	1	0	0	UTR3	UTR3	UTR3	SAXO1(NM_153707:c.*11T>C,NM_001287049:c.*11T>C,NM_001287050:c.*1011T>C)	FAM154A(uc003zni.2:c.*11T>C,uc010mip.2:c.*11T>C)	ENSG00000155875(ENST00000380534:c.*11T>C,ENST00000542071:c.*11T>C,ENST00000380530:c.*1011T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	769;23|34	Hom;A>G	1133;1|36
N	N	-	9	19027571	19027571	C	A	snp	ncRNA_exonic	 	 	 	 	AL356000.1																		rs13298563	0.0954473	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SAXO1	FAM154A	ENSG00000236680	Na	Na	Na	Na	Na	Na	Het;C>A	438;15|20	Hom;C>A	1442;0|51
N	N	-	9	19028208	19028208	C	CA	indel	intronic	 	 	 	 	SAXO1	Saxo1																	rs35006095	0.0960463	0	0	1	0	0	intronic	intronic	intronic	SAXO1	FAM154A	ENSG00000155875	Na	Na	Na	Na	Na	Na	Het;+A	82;3|5	Hom;+A	135;0|6
N	N	-	9	20620575	20620575	G	A	snp	intronic	 	 	 	 	MLLT3	Mllt3	ENSG00000171843	MLLT3, super elongation complex subunit	chr9:20341663-20622542		Iron; lung cancer; Tobacco Use Disorder	About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra.	RNA Polymerase II Transcription Elongation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007379;segment specification;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000096;positive regulation of Wnt signaling pathway, planar cell polarity pathway;IGI	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MLLT3			https://www.ncbi.nlm.nih.gov/omim/?term=159558	http://www.informatics.jax.org/searchtool/Search.do?query=MLLT3&submit=Quick%0D%13024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLLT3	rs2073855	0.438698	0	0	1	0	0	intronic	intronic	intronic	MLLT3	MLLT3	ENSG00000171843	Na	Na	Na	Na	Na	Na	Het;G>A	272;5|11	Hom;G>A	120;0|5
N	N	-	9	21077716	21077716	G	A	snp	synonymous SNV	C153T	Y51Y	aromatic,polar,hydrophobic	aromatic,polar,hydrophobic	IFNB1	Ifnb1	ENSG00000171855	interferon beta 1	chr9:21077104-21077943	This gene encodes a cytokine that belongs to the interferon family of signaling proteins, which are released as part of the innate immune response to pathogens. The protein encoded by this gene belongs to the type I class of interferons, which are important for defense against viral infections. In addition, type I interferons are involved in cell differentiation and anti-tumor defenses. Following secretion in response to a pathogen, type I interferons bind a homologous receptor complex and induce transcription of genes such as those encoding inflammatory cytokines and chemokines. Overactivation of type I interferon secretion is linked to autoimmune diseases. Mice deficient for this gene display several phenotypes including defects in B cell maturation and increased susceptibility to viral infection. [provided by RefSeq, Sep 2015]	Bone Mineral Density; sarcoidosis; tuberculosis; bone density; multiple sclerosis; Celiac Disease|; Type 2 Diabetes| edema | rosiglitazone; malaria; Hepatitis C|Remission, Spontaneous; Measles|Mumps|Rubella; diabetes, type 1; Dengue Hemorrhagic Fever; Communicable Diseases|Severe Acute Respiratory Syndrome; Hemoglobins; Arthritis, Rheumatoid|; melanoma|Nevus|Skin Neoplasms	Homozygotes for targeted null mutations exhibit enhanced proliferation and reduced TNF-alpha production by activated T lymphocytes,  a defect in B cell maturation, fewer circulating granulocytes and macrophages, and increased viral susceptibility.	Factors involved in megakaryocyte development and platelet production	GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;IBA|GO:0002312;B cell activation involved in immune response;IMP|GO:0002323;natural killer cell activation involved in immune response;IBA|GO:0006952;defense response;IEA|GO:0006959;humoral immune response;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007596;blood coagulation;TAS|GO:0009615;response to virus;NAS|GO:0030101;natural killer cell activation;NAS|GO:0030183;B cell differentiation;IBA|GO:0033141;positive regulation of peptidyl-serine phosphorylation of STAT protein;IDA|GO:0035458;cellular response to interferon-beta;IDA|GO:0042100;B cell proliferation;NAS|GO:0042742;defense response to bacterium;IEA|GO:0043330;response to exogenous dsRNA;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045089;positive regulation of innate immune response;NAS|GO:0045343;regulation of MHC class I biosynthetic process;NAS|GO:0045581;negative regulation of T cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051607;defense response to virus;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0071359;cellular response to dsRNA;IEA|GO:0071360;cellular response to exogenous dsRNA;TAS|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0098586;cellular response to virus;IEA|GO:2000552;negative regulation of T-helper 2 cell cytokine production;IDA|GO:2001235;positive regulation of apoptotic signaling pathway;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IDA|GO:0005126;cytokine receptor binding;IEA|GO:0005132;type I interferon receptor binding;NAS|GO:0008811;chloramphenicol O-acetyltransferase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/IFNB1			https://www.ncbi.nlm.nih.gov/omim/?term=147640	http://www.informatics.jax.org/searchtool/Search.do?query=IFNB1&submit=Quick%0D%13028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNB1	rs1051922	0.328275	0.3437	0.3300	1	0	0	exonic	exonic	exonic	IFNB1	IFNB1	ENSG00000171855	synonymous SNV	synonymous SNV	unknown	IFNB1:NM_002176:exon1:c.C153T:p.Y51Y,	IFNB1:uc003zok.3:exon1:c.C153T:p.Y51Y,	UNKNOWN	Het;G>A	1280;64|61	Hom;G>A	2435;0|94
N	N	-	9	21166791	21166791	A	C	snp	upstream	 	 	 	 	IFNA21		ENSG00000137080	interferon alpha 21	chr9:21165636-21166659	This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011]	melanoma|Nevus|Skin Neoplasms; Dengue Hemorrhagic Fever; Hepatitis C|Remission, Spontaneous; Narcolepsy		Factors involved in megakaryocyte development and platelet production	GO:0002250;adaptive immune response;IBA|GO:0002286;T cell activation involved in immune response;IBA|GO:0002323;natural killer cell activation involved in immune response;IBA|GO:0006952;defense response;IEA|GO:0006959;humoral immune response;IBA|GO:0007596;blood coagulation;TAS|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030183;B cell differentiation;IBA|GO:0033141;positive regulation of peptidyl-serine phosphorylation of STAT protein;IBA|GO:0042100;B cell proliferation;IBA|GO:0043330;response to exogenous dsRNA;IBA|GO:0045087;innate immune response;IBA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA|GO:0005126;cytokine receptor binding;TAS|GO:0005132;type I interferon receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IFNA21	https://www.uniprot.org/uniprot/P01568		https://www.ncbi.nlm.nih.gov/omim/?term=147584	http://www.informatics.jax.org/searchtool/Search.do?query=IFNA21&submit=Quick%0D%7470ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNA21	rs8181185	0.465256	0	0	1	0	0	upstream	upstream	upstream	IFNA21	IFNA21	ENSG00000137080	Na	Na	Na	Na	Na	Na	Het;A>C	151;2|5	Hom;A>C	246;0|7
N	N	-	9	2157934	2157934	C	T	snp	intronic	 	 	 	 	SMARCA2	Smarca2	ENSG00000080503	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	chr9:2015342-2193624	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]	schizophrenia; Body Fat Distribution; Electrocardiography; Body Weight Changes; Tobacco Use Disorder; Angiography; breast cancer ; Cholesterol, HDL; Stroke; Thyrotropin; Erythrocyte Count; Breath Tests; Myocardial Infarction; Hand Strength; Arteries; plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a targeted mutation in this gene may exhibit infertility and a slightly increased body weight in some genetic backgrounds.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007286;spermatid development;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0030308;negative regulation of cell growth;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016514;SWI/SNF complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0071564;npBAF complex;ISS|GO:0071565;nBAF complex;ISS	GO:0000166;nucleotide binding;IEA|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016817;hydrolase activity, acting on acid anhydrides;IEA|GO:0016887;ATPase activity;IEA|GO:0042393;histone binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMARCA2	https://www.uniprot.org/uniprot/P51531	https://hpo.jax.org/app/browse/search?q=SMARCA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600014	http://www.informatics.jax.org/searchtool/Search.do?query=SMARCA2&submit=Quick%0D%1730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCA2	rs10965030	0.561701	0	0	1	0	0	intronic	intronic	intronic	SMARCA2	SMARCA2	ENSG00000080503	Na	Na	Na	Na	Na	Na	Het;C>T	1109;53|55	Hom;C>T	2413;0|93
N	N	-	9	21929590	21929590	G	T	snp	ncRNA_exonic	 	 	 	 	ERVFRD-3																		rs2188125	0.525759	0	0	1	0	0	intergenic	intronic	ncRNA_exonic	MTAP(dist=63621),CDKN2A-AS1(dist=37548)	MTAP	ENSG00000264801	Na	Na	Na	Na	Na	Na	Het;G>T	44;5|4	Hom;G>T	257;0|11
N	N	-	9	22772120	22772120	C	A	snp	ncRNA_intronic	 	 	 	 	FLJ35282																		rs10965450	0.257788	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01239	FLJ35282	ENSG00000234840	Na	Na	Na	Na	Na	Na	Het;C>A	556;34|28	Hom;C>A	1315;0|50
N	N	-	9	22823910	22823910	T	TTTATG	indel	ncRNA_exonic	 	 	 	 	LINC01239																		rs144910276	0.28155	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01239	FLJ35282	ENSG00000234840	Na	Na	Na	Na	Na	Na	Het;+TTATG	1263;45|32	Hom;+TTATG	2225;3|50
N	N	-	9	22824131	22824135	GACTT	G	indel	ncRNA_exonic	 	 	 	 	LINC01239																		rs35229240	0.622005	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LINC01239	FLJ35282	ENSG00000234840	Na	Na	Na	Na	Na	Na	Het;-ACTT	1609;62|44	Hom;-ACTT	7481;0|169
N	N	-	9	22924209	22924209	G	A	snp	intergenic	 	 	 	 	LINC01239																		rs10738639	0.831869	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01239(dist=99997),LOC101929563(dist=576480)	FLJ35282(dist=99997),CR627240(dist=576480)	ENSG00000234840(dist=99997),ENSG00000265572(dist=28809)	Na	Na	Na	Na	Na	Na	Het;G>A	250;30|16	Hom;G>A	1341;0|53
N	N	-	9	23648601	23648607	AACACAC	A	indel	ncRNA_intronic	 	 	 	 	CR627240																		rs58328090	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	LOC101929563	CR627240	ENSG00000227607(dist=16243),ENSG00000233906(dist=23179)	Na	Na	Na	Na	Na	Na	Het;-ACACAC	539;9|20	Hom;-ACACAC	1014;0|26
N	N	-	9	23648813	23648813	C	T	snp	ncRNA_exonic	 	 	 	 	LOC101929563																		rs7036185	0.401158	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	LOC101929563	CR627240	ENSG00000227607(dist=16455),ENSG00000233906(dist=22973)	Na	Na	Na	Na	Na	Na	Het;C>T	689;33|33	Hom;C>T	2024;0|74
N	N	-	9	23912149	23912149	G	A	snp	intergenic	 	 	 	 	AL365204.2																		rs896084	0.920727	0	0	1	0	0	intergenic	intergenic	intergenic	ELAVL2(dist=86086),IZUMO3(dist=631064)	ELAVL2(dist=86086),IZUMO3(dist=631064)	ENSG00000237414(dist=14097),ENSG00000205442(dist=630801)	Na	Na	Na	Na	Na	Na	Het;G>A	43;2|3	Hom;G>A	226;0|9
N	N	-	9	24545513	24545513	G	A	snp	synonymous SNV	C135T	P45P	hydrophobic,neutral	hydrophobic,neutral	IZUMO3	Izumo3	ENSG00000205442	IZUMO family member 3	chr9:24542950-24545944			 	Sperm:Oocyte Membrane Binding		GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0042803;protein homodimerization activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/IZUMO3				http://www.informatics.jax.org/searchtool/Search.do?query=IZUMO3&submit=Quick%0D%17517ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IZUMO3	rs6475797	0.736621	0	0.6486	1	0	0	exonic	exonic	exonic	IZUMO3	IZUMO3	ENSG00000205442	synonymous SNV	synonymous SNV	unknown	IZUMO3:NM_001271706:exon1:c.C135T:p.P45P,	IZUMO3:uc031tdg.1:exon1:c.C135T:p.P45P,	UNKNOWN	Het;G>A	565;50|30	Hom;G>A	1914;0|70
N	N	-	9	2622121	2622121	A	G	snp	ncRNA_exonic	 	 	 	 	VLDLR-AS1																		rs12379259	0.8123	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	VLDLR-AS1	FLJ35024	ENSG00000236404	Na	Na	Na	Na	Na	Na	Het;A>G	150;11|9	Hom;A>G	343;0|15
N	N	-	9	27197673	27197673	G	T	snp	intronic	 	 	 	 	TEK	Tek	ENSG00000120156	TEK receptor tyrosine kinase	chr9:27109139-27230173	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Vascular Malformations; Stroke; Triglycerides; Chronic renal failure|Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Metabolism; BMI- Edema rosiglitazone or pioglitazone; Heart Rate; smoking cessation	Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001935;endothelial cell proliferation;ISS|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0001958;endochondral ossification;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007507;heart development;ISS|GO:0010033;response to organic substance;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032878;regulation of establishment or maintenance of cell polarity;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043114;regulation of vascular permeability;TAS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0043627;response to estrogen;IEA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048014;Tie signaling pathway;IDA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0050900;leukocyte migration;TAS|GO:0051259;protein oligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060216;definitive hemopoiesis;TAS|GO:0060347;heart trabecula formation;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0072012;glomerulus vasculature development;ISS|GO:1902533;positive regulation of intracellular signal transduction;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP|GO:2000351;regulation of endothelial cell apoptotic process;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;ISS	GO:0001725;stress fiber;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005902;microvillus;IDA|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;IEA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004872;receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEK	https://www.uniprot.org/uniprot/Q02763	https://hpo.jax.org/app/browse/search?q=TEK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600221	http://www.informatics.jax.org/searchtool/Search.do?query=TEK&submit=Quick%0D%5170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEK	rs606342	0.424521	0	0	1	0	0	intronic	intronic	intronic	TEK	TEK	ENSG00000120156	Na	Na	Na	Na	Na	Na	Het;G>T	151;9|7	Hom;G>T	691;0|23
N	N	-	9	27202726	27202726	A	T	snp	intronic	 	 	 	 	TEK	Tek	ENSG00000120156	TEK receptor tyrosine kinase	chr9:27109139-27230173	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Vascular Malformations; Stroke; Triglycerides; Chronic renal failure|Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Metabolism; BMI- Edema rosiglitazone or pioglitazone; Heart Rate; smoking cessation	Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001935;endothelial cell proliferation;ISS|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0001958;endochondral ossification;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007507;heart development;ISS|GO:0010033;response to organic substance;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032878;regulation of establishment or maintenance of cell polarity;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043114;regulation of vascular permeability;TAS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0043627;response to estrogen;IEA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048014;Tie signaling pathway;IDA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0050900;leukocyte migration;TAS|GO:0051259;protein oligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060216;definitive hemopoiesis;TAS|GO:0060347;heart trabecula formation;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0072012;glomerulus vasculature development;ISS|GO:1902533;positive regulation of intracellular signal transduction;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP|GO:2000351;regulation of endothelial cell apoptotic process;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;ISS	GO:0001725;stress fiber;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005902;microvillus;IDA|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;IEA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004872;receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEK	https://www.uniprot.org/uniprot/Q02763	https://hpo.jax.org/app/browse/search?q=TEK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600221	http://www.informatics.jax.org/searchtool/Search.do?query=TEK&submit=Quick%0D%5170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEK	rs550722	0.414137	0	0	1	0	0	intronic	intronic	intronic	TEK	TEK	ENSG00000120156	Na	Na	Na	Na	Na	Na	Het;A>T	89;3|3	Hom;A>T	542;0|12
N	N	-	9	27202727	27202727	T	C	snp	intronic	 	 	 	 	TEK	Tek	ENSG00000120156	TEK receptor tyrosine kinase	chr9:27109139-27230173	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Vascular Malformations; Stroke; Triglycerides; Chronic renal failure|Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Metabolism; BMI- Edema rosiglitazone or pioglitazone; Heart Rate; smoking cessation	Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001935;endothelial cell proliferation;ISS|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0001958;endochondral ossification;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007507;heart development;ISS|GO:0010033;response to organic substance;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032878;regulation of establishment or maintenance of cell polarity;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043114;regulation of vascular permeability;TAS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0043627;response to estrogen;IEA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048014;Tie signaling pathway;IDA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0050900;leukocyte migration;TAS|GO:0051259;protein oligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060216;definitive hemopoiesis;TAS|GO:0060347;heart trabecula formation;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0072012;glomerulus vasculature development;ISS|GO:1902533;positive regulation of intracellular signal transduction;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP|GO:2000351;regulation of endothelial cell apoptotic process;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;ISS	GO:0001725;stress fiber;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005902;microvillus;IDA|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;IEA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004872;receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEK	https://www.uniprot.org/uniprot/Q02763	https://hpo.jax.org/app/browse/search?q=TEK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600221	http://www.informatics.jax.org/searchtool/Search.do?query=TEK&submit=Quick%0D%5170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEK	rs550721	0.409744	0	0	1	0	0	intronic	intronic	intronic	TEK	TEK	ENSG00000120156	Na	Na	Na	Na	Na	Na	Het;T>C	89;3|3	Hom;T>C	542;0|13
N	N	-	9	27202870	27202870	A	G	snp	synonymous SNV	A1962G	S654S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TEK	Tek	ENSG00000120156	TEK receptor tyrosine kinase	chr9:27109139-27230173	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Vascular Malformations; Stroke; Triglycerides; Chronic renal failure|Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Metabolism; BMI- Edema rosiglitazone or pioglitazone; Heart Rate; smoking cessation	Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001935;endothelial cell proliferation;ISS|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0001958;endochondral ossification;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007507;heart development;ISS|GO:0010033;response to organic substance;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032878;regulation of establishment or maintenance of cell polarity;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043114;regulation of vascular permeability;TAS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0043627;response to estrogen;IEA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048014;Tie signaling pathway;IDA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0050900;leukocyte migration;TAS|GO:0051259;protein oligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060216;definitive hemopoiesis;TAS|GO:0060347;heart trabecula formation;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0072012;glomerulus vasculature development;ISS|GO:1902533;positive regulation of intracellular signal transduction;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP|GO:2000351;regulation of endothelial cell apoptotic process;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;ISS	GO:0001725;stress fiber;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005902;microvillus;IDA|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;IEA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004872;receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEK	https://www.uniprot.org/uniprot/Q02763	https://hpo.jax.org/app/browse/search?q=TEK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600221	http://www.informatics.jax.org/searchtool/Search.do?query=TEK&submit=Quick%0D%5170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEK	rs639225	0.414337	0.4463	0.4649	1	0	0	exonic	exonic	exonic	TEK	TEK	ENSG00000120156	synonymous SNV	synonymous SNV	unknown	TEK:NM_001290077:exon12:c.A1833G:p.S611S,TEK:NM_000459:exon13:c.A1962G:p.S654S,TEK:NM_001290078:exon11:c.A1521G:p.S507S,	TEK:uc003zqi.4:exon13:c.A1962G:p.S654S,TEK:uc003zqj.1:exon11:c.A1764G:p.S588S,TEK:uc011lnp.2:exon11:c.A1521G:p.S507S,TEK:uc011lno.2:exon12:c.A1833G:p.S611S,	UNKNOWN	Het;A>G	1697;91|83	Hom;A>G	3916;0|147
N	N	-	9	27203134	27203134	A	G	snp	intronic	 	 	 	 	TEK	Tek	ENSG00000120156	TEK receptor tyrosine kinase	chr9:27109139-27230173	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]	Vascular Malformations; Stroke; Triglycerides; Chronic renal failure|Kidney Failure, Chronic; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Metabolism; BMI- Edema rosiglitazone or pioglitazone; Heart Rate; smoking cessation	Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.	RAF/MAP kinase cascade	GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001935;endothelial cell proliferation;ISS|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0001958;endochondral ossification;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007507;heart development;ISS|GO:0010033;response to organic substance;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032878;regulation of establishment or maintenance of cell polarity;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043114;regulation of vascular permeability;TAS|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0043627;response to estrogen;IEA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048014;Tie signaling pathway;IDA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0050900;leukocyte migration;TAS|GO:0051259;protein oligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060216;definitive hemopoiesis;TAS|GO:0060347;heart trabecula formation;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0072012;glomerulus vasculature development;ISS|GO:1902533;positive regulation of intracellular signal transduction;IMP|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP|GO:2000351;regulation of endothelial cell apoptotic process;TAS|GO:2000352;negative regulation of endothelial cell apoptotic process;ISS	GO:0001725;stress fiber;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005902;microvillus;IDA|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;IEA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004872;receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEK	https://www.uniprot.org/uniprot/Q02763	https://hpo.jax.org/app/browse/search?q=TEK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600221	http://www.informatics.jax.org/searchtool/Search.do?query=TEK&submit=Quick%0D%5170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEK	rs638203	0.414936	0.4471	0.4657	1	0	0	intronic	intronic	intronic	TEK	TEK	ENSG00000120156	Na	Na	Na	Na	Na	Na	Het;A>G	463;28|23	Hom;A>G	1290;0|41
N	N	-	9	272981	272981	C	G	snp	ncRNA_exonic	 	 	 	 	AL158832.1																		rs2992835	0.304313	0	0	1	0	0	intronic	intronic	ncRNA_exonic	DOCK8	DOCK8	ENSG00000235880	Na	Na	Na	Na	Na	Na	Het;C>G	181;6|6	Hom;C>G	148;0|5
N	N	-	9	27546828	27546828	A	G	snp	UTR3	*1406T>C	 	 	 	C9orf72	3110043O21Rik	ENSG00000147894	chromosome 9 open reading frame 72	chr9:27546544-27573864	The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Echocardiography; Immunoglobulin A; Creatinine; Alzheimer Disease; Glomerular Filtration Rate; Amyotrophic Lateral Sclerosis; Intercellular Adhesion Molecule-1; Coronary Artery Disease; Cholesterol, HDL; Blood Pressure; Lipoproteins, VLDL; Amyotrophic lateral sclerosis	Nullizygous mice show splenomegaly and lymphadenopathy. Homozygotes for one allele show reduced body weight, hematocrit and hemoglobin content, lymphopenia, neutrophilia, social interaction deficits and premature death. Homozygotes for another allele show altered macrophage and microglia physiology.		GO:0006897;endocytosis;IMP|GO:0006914;autophagy;IEA|GO:0010506;regulation of autophagy;IMP|GO:0016239;positive regulation of macroautophagy;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903432;regulation of TORC1 signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IDA|GO:0005776;autophagosome;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA|GO:1990316;ATG1/ULK1 kinase complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C9orf72	https://www.uniprot.org/uniprot/Q96LT7		https://www.ncbi.nlm.nih.gov/omim/?term=614260	http://www.informatics.jax.org/searchtool/Search.do?query=C9orf72&submit=Quick%0D%9060ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf72	rs9103	0.167532	0	0	1	0	0	UTR3	UTR3	UTR3	C9orf72(NM_018325:c.*1406T>C,NM_001256054:c.*1406T>C)	C9orf72(uc003zqq.3:c.*1406T>C,uc022bfa.2:c.*1406T>C)	ENSG00000147894(ENST00000380003:c.*1406T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	973;47|50	Hom;A>G	3182;2|120
N	N	-	9	27560417	27560417	G	A	snp	intronic	 	 	 	 	C9orf72	3110043O21Rik	ENSG00000147894	chromosome 9 open reading frame 72	chr9:27546544-27573864	The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Echocardiography; Immunoglobulin A; Creatinine; Alzheimer Disease; Glomerular Filtration Rate; Amyotrophic Lateral Sclerosis; Intercellular Adhesion Molecule-1; Coronary Artery Disease; Cholesterol, HDL; Blood Pressure; Lipoproteins, VLDL; Amyotrophic lateral sclerosis	Nullizygous mice show splenomegaly and lymphadenopathy. Homozygotes for one allele show reduced body weight, hematocrit and hemoglobin content, lymphopenia, neutrophilia, social interaction deficits and premature death. Homozygotes for another allele show altered macrophage and microglia physiology.		GO:0006897;endocytosis;IMP|GO:0006914;autophagy;IEA|GO:0010506;regulation of autophagy;IMP|GO:0016239;positive regulation of macroautophagy;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903432;regulation of TORC1 signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IDA|GO:0005776;autophagosome;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA|GO:1990316;ATG1/ULK1 kinase complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C9orf72	https://www.uniprot.org/uniprot/Q96LT7		https://www.ncbi.nlm.nih.gov/omim/?term=614260	http://www.informatics.jax.org/searchtool/Search.do?query=C9orf72&submit=Quick%0D%9060ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf72	rs10967985	0.161342	0	0	1	0	0	intronic	intronic	intronic	C9orf72	C9orf72	ENSG00000147894	Na	Na	Na	Na	Na	Na	Het;G>A	233;2|8	Hom;G>A	260;0|8
N	N	-	9	27567145	27567145	C	T	snp	UTR5	-27G>A	 	 	 	C9orf72	3110043O21Rik	ENSG00000147894	chromosome 9 open reading frame 72	chr9:27546544-27573864	The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]	Arthritis, Rheumatoid|Rheumatoid Arthritis; Echocardiography; Immunoglobulin A; Creatinine; Alzheimer Disease; Glomerular Filtration Rate; Amyotrophic Lateral Sclerosis; Intercellular Adhesion Molecule-1; Coronary Artery Disease; Cholesterol, HDL; Blood Pressure; Lipoproteins, VLDL; Amyotrophic lateral sclerosis	Nullizygous mice show splenomegaly and lymphadenopathy. Homozygotes for one allele show reduced body weight, hematocrit and hemoglobin content, lymphopenia, neutrophilia, social interaction deficits and premature death. Homozygotes for another allele show altered macrophage and microglia physiology.		GO:0006897;endocytosis;IMP|GO:0006914;autophagy;IEA|GO:0010506;regulation of autophagy;IMP|GO:0016239;positive regulation of macroautophagy;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903432;regulation of TORC1 signaling;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IDA|GO:0005776;autophagosome;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA|GO:1990316;ATG1/ULK1 kinase complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA|GO:0017137;Rab GTPase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/C9orf72	https://www.uniprot.org/uniprot/Q96LT7		https://www.ncbi.nlm.nih.gov/omim/?term=614260	http://www.informatics.jax.org/searchtool/Search.do?query=C9orf72&submit=Quick%0D%9060ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf72	rs10757668	0.169529	0.2080	0.2028	1	0	0	UTR5	UTR5	UTR5	C9orf72(NM_018325:c.-27G>A,NM_001256054:c.-27G>A,NM_145005:c.-27G>A)	C9orf72(uc003zqq.3:c.-27G>A,uc022bfa.2:c.-27G>A,uc003zqr.2:c.-27G>A)	ENSG00000147894(ENST00000380003:c.-27G>A,ENST00000379997:c.-27G>A,ENST00000379995:c.-27G>A)	Na	Na	Na	Na	Na	Na	Het;C>T	609;56|32	Hom;C>T	2580;1|94
N	N	-	9	27608667	27608667	T	C	snp	ncRNA_exonic	 	 	 	 	CTAGE12P																		rs4119808	0.470847	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	C9orf72(dist=34803),LINGO2(dist=339417)	C9orf72(dist=34803),Mir_544(dist=141193)	ENSG00000215441	Na	Na	Na	Na	Na	Na	Het;T>C	1270;76|58	Hom;T>C	5065;0|179
N	N	-	9	27723713	27723713	G	A	snp	intergenic	 	 	 	 	CTAGE12P																		rs2026147	0.534145	0	0	1	0	0	intergenic	intergenic	intergenic	C9orf72(dist=149849),LINGO2(dist=224371)	C9orf72(dist=149849),Mir_544(dist=26147)	ENSG00000215441(dist=112970),ENSG00000260390(dist=105561)	Na	Na	Na	Na	Na	Na	Het;G>A	170;2|6	Hom;G>A	260;0|8
N	N	-	9	28348195	28348195	C	A	snp	intronic	 	 	 	 	LINGO2	Lingo2	ENSG00000174482	leucine rich repeat and Ig domain containing 2	chr9:27948076-28670283		Platelet Count; Myocardial Infarction; Mental Competency; Cholesterol, HDL; Celiac Disease|; Follicle Stimulating Hormone; Stroke; Body Mass Index; Electrocardiography; Tobacco Use Disorder; Cholesterol, LDL; Cholesterol; Heart Rate; Lipoproteins, HDL; Erythrocytes; Respiratory Function Tests; Parkinson's disease; Insulin; Arteries	 		GO:0051965;positive regulation of synapse assembly;IEA	GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LINGO2			https://www.ncbi.nlm.nih.gov/omim/?term=609793	http://www.informatics.jax.org/searchtool/Search.do?query=LINGO2&submit=Quick%0D%13530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINGO2	rs10738794	0.429912	0	0	1	0	0	intronic	intronic	intronic	LINGO2	LINGO2	ENSG00000174482	Na	Na	Na	Na	Na	Na	Het;C>A	80;5|5	Hom;C>A	136;0|5
N	N	-	9	286593	286593	C	A	snp	nonsynonymous SNV	C289A	P97T	hydrophobic,neutral	polar,hydrophilic,neutral	DOCK8	Dock8	ENSG00000107099	dedicator of cytokinesis 8	chr9:214854-465259	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Platelet Count; Heart Failure	Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.	Factors involved in megakaryocyte development and platelet production	GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOCK8	https://www.uniprot.org/uniprot/Q8NF50	https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611432	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8	rs529208	0.529752	0.4642	0.5206	0.62	8	13	exonic	exonic	exonic	DOCK8	DOCK8	ENSG00000107099	nonsynonymous SNV	nonsynonymous SNV	unknown	DOCK8:NM_203447:exon3:c.C289A:p.P97T,DOCK8:NM_001190458:exon2:c.C85A:p.P29T,DOCK8:NM_001193536:exon2:c.C85A:p.P29T,	DOCK8:uc010mgv.3:exon2:c.C85A:p.P29T,DOCK8:uc010mgt.3:exon2:c.C85A:p.P29T,DOCK8:uc011lls.1:exon3:c.C289A:p.P97T,DOCK8:uc003zgg.3:exon2:c.C85A:p.P29T,DOCK8:uc003zgf.2:exon3:c.C289A:p.P97T,DOCK8:uc022bcu.1:exon2:c.C85A:p.P29T,	UNKNOWN	Het;C>A	709;74|38	Hom;C>A	2919;0|109
N	N	-	9	28800780	28800780	G	A	snp	intronic	 	 	 	 	LINGO2	Lingo2	ENSG00000174482	leucine rich repeat and Ig domain containing 2	chr9:27948076-28670283		Platelet Count; Myocardial Infarction; Mental Competency; Cholesterol, HDL; Celiac Disease|; Follicle Stimulating Hormone; Stroke; Body Mass Index; Electrocardiography; Tobacco Use Disorder; Cholesterol, LDL; Cholesterol; Heart Rate; Lipoproteins, HDL; Erythrocytes; Respiratory Function Tests; Parkinson's disease; Insulin; Arteries	 		GO:0051965;positive regulation of synapse assembly;IEA	GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LINGO2			https://www.ncbi.nlm.nih.gov/omim/?term=609793	http://www.informatics.jax.org/searchtool/Search.do?query=LINGO2&submit=Quick%0D%13530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINGO2	rs4879266	0.48123	0	0	1	0	0	intronic	intronic	intergenic	LINGO2	LINGO2	ENSG00000174482(dist=130497),ENSG00000215966(dist=62844)	Na	Na	Na	Na	Na	Na	Het;G>A	70;3|4	Hom;G>A	572;0|21
N	N	-	9	28988966	28988966	T	C	snp	intronic	 	 	 	 	LINGO2	Lingo2	ENSG00000174482	leucine rich repeat and Ig domain containing 2	chr9:27948076-28670283		Platelet Count; Myocardial Infarction; Mental Competency; Cholesterol, HDL; Celiac Disease|; Follicle Stimulating Hormone; Stroke; Body Mass Index; Electrocardiography; Tobacco Use Disorder; Cholesterol, LDL; Cholesterol; Heart Rate; Lipoproteins, HDL; Erythrocytes; Respiratory Function Tests; Parkinson's disease; Insulin; Arteries	 		GO:0051965;positive regulation of synapse assembly;IEA	GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LINGO2			https://www.ncbi.nlm.nih.gov/omim/?term=609793	http://www.informatics.jax.org/searchtool/Search.do?query=LINGO2&submit=Quick%0D%13530ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LINGO2	rs10968861	0.60623	0	0	1	0	0	intronic	intronic	intergenic	LINGO2	LINGO2	ENSG00000215939(dist=100013),ENSG00000230276(dist=265107)	Na	Na	Na	Na	Na	Na	Het;T>C	2082;91|99	Hom;T>C	4187;0|153
N	N	-	9	30539475	30539475	A	G	snp	intergenic	 	 	 	 	ENSG00000239155																		rs12684540	0.417332	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01242(dist=131023),ACO1(dist=1845126)	LOC401497(dist=131023),ACO1(dist=1845126)	ENSG00000239155(dist=360900),ENSG00000232060(dist=19403)	Na	Na	Na	Na	Na	Na	Het;A>G	564;6|22	Hom;A>G	515;0|19
N	N	-	9	30689220	30689220	G	A	snp	ncRNA_exonic	 	 	 	 	RBMXP2																		rs10121198	0.712859	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	LINC01242(dist=280768),ACO1(dist=1695381)	LOC401497(dist=280768),ACO1(dist=1695381)	ENSG00000215210	Na	Na	Na	Na	Na	Na	Het;G>A	1330;48|66	Hom;G>A	2781;0|103
N	N	-	9	30739876	30739876	A	C	snp	intergenic	 	 	 	 	RBMXP2																		rs10969847	0.710663	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01242(dist=331424),ACO1(dist=1644725)	LOC401497(dist=331424),ACO1(dist=1644725)	ENSG00000215210(dist=49606),ENSG00000221111(dist=31219)	Na	Na	Na	Na	Na	Na	Het;A>C	782;38|38	Hom;A>C	1888;0|67
N	N	-	9	32425676	32425676	T	G	snp	intronic	 	 	 	 	ACO1	Aco1	ENSG00000122729	aconitase 1	chr9:32384618-32454767	The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]	Acquired Immunodeficiency Syndrome|Disease Progression; Myocardial Infarction; Coronary Artery Disease; melanoma|Nevus|Skin Neoplasms; Heart Failure	Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities.	Iron uptake and transport	GO:0006099;tricarboxylic acid cycle;IEA|GO:0006101;citrate metabolic process;IDA|GO:0006417;regulation of translation;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0008152;metabolic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0010040;response to iron(II) ion;IDA|GO:0010468;regulation of gene expression;IEA|GO:0050892;intestinal absorption;IEA	GO:0005737;cytoplasm;IMP|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003994;aconitate hydratase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0030350;iron-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051538;3 iron, 4 sulfur cluster binding;IMP|GO:0051539;4 iron, 4 sulfur cluster binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACO1	https://www.uniprot.org/uniprot/P21399		https://www.ncbi.nlm.nih.gov/omim/?term=100880	http://www.informatics.jax.org/searchtool/Search.do?query=ACO1&submit=Quick%0D%5448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACO1	rs3780474	0.424321	0	0	1	0	0	intronic	intronic	intronic	ACO1	ACO1	ENSG00000122729	Na	Na	Na	Na	Na	Na	Het;T>G	48;1|2	Hom;T>G	184;0|5
N	N	-	9	32425910	32425910	A	G	snp	synonymous SNV	A1263G	E421E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ACO1	Aco1	ENSG00000122729	aconitase 1	chr9:32384618-32454767	The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]	Acquired Immunodeficiency Syndrome|Disease Progression; Myocardial Infarction; Coronary Artery Disease; melanoma|Nevus|Skin Neoplasms; Heart Failure	Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities.	Iron uptake and transport	GO:0006099;tricarboxylic acid cycle;IEA|GO:0006101;citrate metabolic process;IDA|GO:0006417;regulation of translation;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0008152;metabolic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0010040;response to iron(II) ion;IDA|GO:0010468;regulation of gene expression;IEA|GO:0050892;intestinal absorption;IEA	GO:0005737;cytoplasm;IMP|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003994;aconitate hydratase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0030350;iron-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051538;3 iron, 4 sulfur cluster binding;IMP|GO:0051539;4 iron, 4 sulfur cluster binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACO1	https://www.uniprot.org/uniprot/P21399		https://www.ncbi.nlm.nih.gov/omim/?term=100880	http://www.informatics.jax.org/searchtool/Search.do?query=ACO1&submit=Quick%0D%5448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACO1	rs3780473	0.353834	0.3269	0.3445	1	0	0	exonic	exonic	exonic	ACO1	ACO1	ENSG00000122729	synonymous SNV	synonymous SNV	unknown	ACO1:NM_002197:exon11:c.A1263G:p.E421E,ACO1:NM_001278352:exon12:c.A1263G:p.E421E,	ACO1:uc003zqx.4:exon12:c.A1263G:p.E421E,ACO1:uc003zqw.4:exon11:c.A1263G:p.E421E,ACO1:uc010mjh.1:exon10:c.A765G:p.E255E,	UNKNOWN	Het;A>G	1904;116|89	Hom;A>G	4891;0|177
N	N	-	9	32431931	32431931	A	G	snp	intronic	 	 	 	 	ACO1	Aco1	ENSG00000122729	aconitase 1	chr9:32384618-32454767	The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]	Acquired Immunodeficiency Syndrome|Disease Progression; Myocardial Infarction; Coronary Artery Disease; melanoma|Nevus|Skin Neoplasms; Heart Failure	Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities.	Iron uptake and transport	GO:0006099;tricarboxylic acid cycle;IEA|GO:0006101;citrate metabolic process;IDA|GO:0006417;regulation of translation;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0008152;metabolic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0010040;response to iron(II) ion;IDA|GO:0010468;regulation of gene expression;IEA|GO:0050892;intestinal absorption;IEA	GO:0005737;cytoplasm;IMP|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0003994;aconitate hydratase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0030350;iron-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051538;3 iron, 4 sulfur cluster binding;IMP|GO:0051539;4 iron, 4 sulfur cluster binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACO1	https://www.uniprot.org/uniprot/P21399		https://www.ncbi.nlm.nih.gov/omim/?term=100880	http://www.informatics.jax.org/searchtool/Search.do?query=ACO1&submit=Quick%0D%5448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACO1	rs10970975	0.355631	0	0	1	0	0	intronic	intronic	intronic	ACO1	ACO1	ENSG00000122729	Na	Na	Na	Na	Na	Na	Het;A>G	31;6|2	Hom;A>G	230;0|7
N	N	-	9	325811	325811	T	TC	indel	intronic	 	 	 	 	DOCK8	Dock8	ENSG00000107099	dedicator of cytokinesis 8	chr9:214854-465259	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Platelet Count; Heart Failure	Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.	Factors involved in megakaryocyte development and platelet production	GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOCK8	https://www.uniprot.org/uniprot/Q8NF50	https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611432	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8	rs3831138	0.698283	0	0	1	0	0	intronic	intronic	intronic	DOCK8	DOCK8	ENSG00000107099	Na	Na	Na	Na	Na	Na	Het;+C	192;3|7	Hom;+C	606;0|15
N	N	-	9	327938	327938	G	C	snp	intronic	 	 	 	 	DOCK8	Dock8	ENSG00000107099	dedicator of cytokinesis 8	chr9:214854-465259	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Platelet Count; Heart Failure	Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.	Factors involved in megakaryocyte development and platelet production	GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOCK8	https://www.uniprot.org/uniprot/Q8NF50	https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611432	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8	rs2296825	0.675519	0	0	1	0	0	intronic	intronic	intronic	DOCK8	DOCK8	ENSG00000107099	Na	Na	Na	Na	Na	Na	Het;G>C	129;14|6	Hom;G>C	683;0|20
N	N	-	9	327957	327957	T	G	snp	intronic	 	 	 	 	DOCK8	Dock8	ENSG00000107099	dedicator of cytokinesis 8	chr9:214854-465259	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Platelet Count; Heart Failure	Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.	Factors involved in megakaryocyte development and platelet production	GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOCK8	https://www.uniprot.org/uniprot/Q8NF50	https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611432	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8	rs2296826	0.439896	0	0	1	0	0	intronic	intronic	intronic	DOCK8	DOCK8	ENSG00000107099	Na	Na	Na	Na	Na	Na	Het;T>G	195;16|8	Hom;T>G	1046;0|32
N	N	-	9	328006	328006	T	C	snp	intronic	 	 	 	 	DOCK8	Dock8	ENSG00000107099	dedicator of cytokinesis 8	chr9:214854-465259	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Platelet Count; Heart Failure	Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.	Factors involved in megakaryocyte development and platelet production	GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOCK8	https://www.uniprot.org/uniprot/Q8NF50	https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611432	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8	rs2296828	0.695887	0.6684	0.6886	1	0	0	intronic	intronic	intronic	DOCK8	DOCK8	ENSG00000107099	Na	Na	Na	Na	Na	Na	Het;T>C	774;42|33	Hom;T>C	2910;0|98
N	N	-	9	33384977	33384977	T	G	snp	UTR3	*639A>C	 	 	 	AQP7	Aqp7	ENSG00000165269	aquaporin 7	chr9:33384765-33402643	This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]	diabetes, type 2 obesity; Iron; Hypertension	Homozygous null mice for one allele show decreased circulating glycerol levels and fasting hypoglycemia. Other mutant alleles show increased gonadal fat pad mass and adipocyte hypertrophy or increased urine glucose and impaired water permeability in the kidney, but have normal serum glycerol.	Passive transport by Aquaporins	GO:0006091;generation of precursor metabolites and energy;TAS|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;TAS|GO:0015254;glycerol channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP7			https://www.ncbi.nlm.nih.gov/omim/?term=602974	http://www.informatics.jax.org/searchtool/Search.do?query=AQP7&submit=Quick%0D%11506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP7	rs13434	0.0638978	0.0744	0.0932	1	0	0	UTR3	UTR3	UTR3	AQP7(NM_001170:c.*26A>C)	AQP7(uc003zst.3:c.*26A>C,uc003zsu.1:c.*174A>C)	ENSG00000165269(ENST00000537089:c.*639A>C,ENST00000297988:c.*26A>C,ENST00000379507:c.*26A>C,ENST00000447660:c.*174A>C,ENST00000377425:c.*174A>C)	Na	Na	Na	Na	Na	Na	Het;T>G	1504;61|61	Hom;T>G	3586;3|127
N	N	-	9	33394053	33394053	C	T	snp	UTR5	-7522G>A	 	 	 	AQP7	Aqp7	ENSG00000165269	aquaporin 7	chr9:33384765-33402643	This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]	diabetes, type 2 obesity; Iron; Hypertension	Homozygous null mice for one allele show decreased circulating glycerol levels and fasting hypoglycemia. Other mutant alleles show increased gonadal fat pad mass and adipocyte hypertrophy or increased urine glucose and impaired water permeability in the kidney, but have normal serum glycerol.	Passive transport by Aquaporins	GO:0006091;generation of precursor metabolites and energy;TAS|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;TAS|GO:0015254;glycerol channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP7			https://www.ncbi.nlm.nih.gov/omim/?term=602974	http://www.informatics.jax.org/searchtool/Search.do?query=AQP7&submit=Quick%0D%11506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP7	rs62544573	0.0603035	0	0	1	0	0	intronic	UTR5	intronic	AQP7	AQP7(uc010mjs.2:c.-7522G>A)	ENSG00000165269	Na	Na	Na	Na	Na	Na	Het;C>T	148;8|7	Hom;C>T	492;0|16
N	N	-	9	33401633	33401633	T	C	snp	intronic	 	 	 	 	AQP7	Aqp7	ENSG00000165269	aquaporin 7	chr9:33384765-33402643	This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]	diabetes, type 2 obesity; Iron; Hypertension	Homozygous null mice for one allele show decreased circulating glycerol levels and fasting hypoglycemia. Other mutant alleles show increased gonadal fat pad mass and adipocyte hypertrophy or increased urine glucose and impaired water permeability in the kidney, but have normal serum glycerol.	Passive transport by Aquaporins	GO:0006091;generation of precursor metabolites and energy;TAS|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;TAS|GO:0015254;glycerol channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AQP7			https://www.ncbi.nlm.nih.gov/omim/?term=602974	http://www.informatics.jax.org/searchtool/Search.do?query=AQP7&submit=Quick%0D%11506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP7	rs3860982	0.0553115	0	0	1	0	0	intronic	intronic	intronic	AQP7	AQP7	ENSG00000165269	Na	Na	Na	Na	Na	Na	Het;T>C	2780;62|93	Hom;T>C	5123;1|158
N	N	-	9	33625082	33625082	G	C	snp	nonsynonymous SNV	G811C	A271P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	ANXA2P2																		rs10758216	0.297724	0	0.3553	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ANXA2P2	ANXA2P2	ENSG00000231991	Na	nonsynonymous SNV	Na	Na	ANXA2P2:uc010mjx.3:exon1:c.G811C:p.A271P,	Na	Het;G>C	2549;83|100	Hom;G>C	5800;0|200
N	N	-	9	33625450	33625461	AGAGGTTACAGT	A	indel	ncRNA_exonic	 	 	 	 	ANXA2P2																		rs144493152	0.297125	0	0	1	0	0	ncRNA_exonic	UTR3	ncRNA_exonic	ANXA2P2	ANXA2P2(uc010mjx.3:c.*159_*170delinsA)	ENSG00000231991	Na	Na	Na	Na	Na	Na	Het;-GAGGTTACAGT	270;3|8	Hom;-GAGGTTACAGT	359;0|9
N	N	-	9	33796912	33796912	A	G	snp	ncRNA_intronic	 	 	 	 	UBE2R2-AS1																		rs855580	0.938099	0	0	1	0	0	intronic	intronic	ncRNA_intronic	PRSS3	PRSS3	ENSG00000235481	Na	Na	Na	Na	Na	Na	Het;A>G	168;1|6	Hom;A>G	89;0|3
N	N	-	9	33932688	33932688	G	C	snp	intronic	 	 	 	 	UBAP2	Ubap2	ENSG00000137073	ubiquitin associated protein 2	chr9:33921691-34048947	The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Frontotemporal Lobar Degeneration	 		GO:0010628;positive regulation of gene expression;IBA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA	GO:0003723;RNA binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBAP2	https://www.uniprot.org/uniprot/Q5T6F2			http://www.informatics.jax.org/searchtool/Search.do?query=UBAP2&submit=Quick%0D%7464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP2	rs307648	0.373203	0.4111	0	1	0	0	intronic	intronic	intronic	UBAP2	UBAP2	ENSG00000137073	Na	Na	Na	Na	Na	Na	Het;G>C	116;10|8	Hom;G>C	699;0|26
N	N	-	9	33941759	33941759	T	C	snp	nonsynonymous SNV	A1817G	N606S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	UBAP2	Ubap2	ENSG00000137073	ubiquitin associated protein 2	chr9:33921691-34048947	The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Frontotemporal Lobar Degeneration	 		GO:0010628;positive regulation of gene expression;IBA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA	GO:0003723;RNA binding;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBAP2	https://www.uniprot.org/uniprot/Q5T6F2			http://www.informatics.jax.org/searchtool/Search.do?query=UBAP2&submit=Quick%0D%7464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP2	rs307658	0.370807	0.4114	0.3741	0.23	3	13	exonic	exonic	exonic	UBAP2	UBAP2	ENSG00000137073	nonsynonymous SNV	nonsynonymous SNV	unknown	UBAP2:NM_018449:exon16:c.A1817G:p.N606S,UBAP2:NM_001282529:exon12:c.A1016G:p.N339S,	UBAP2:uc011loe.1:exon10:c.A1082G:p.N361S,UBAP2:uc011lof.1:exon16:c.A1592G:p.N531S,UBAP2:uc011log.1:exon14:c.A1655G:p.N552S,UBAP2:uc011lod.1:exon12:c.A1016G:p.N339S,UBAP2:uc003zts.3:exon4:c.A716G:p.N239S,UBAP2:uc003ztr.2:exon14:c.A1433G:p.N478S,UBAP2:uc011loc.1:exon15:c.A1544G:p.N515S,UBAP2:uc003ztq.1:exon16:c.A1817G:p.N606S,	UNKNOWN	Het;T>C	1537;119|81	Hom;T>C	5041;0|181
N	N	-	9	34252127	34252127	T	C	snp	UTR3	*597T>C	 	 	 	UBAP1	Ubap1	ENSG00000165006	ubiquitin associated protein 1	chr9:34179003-34252521	This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]	Frontotemporal Lobar Degeneration	 	Endosomal Sorting Complex Required For Transport (ESCRT)	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0019058;viral life cycle;TAS|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:0075733;intracellular transport of virus;TAS	GO:0000813;ESCRT I complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBAP1			https://www.ncbi.nlm.nih.gov/omim/?term=609787	http://www.informatics.jax.org/searchtool/Search.do?query=UBAP1&submit=Quick%0D%11446ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP1	rs1049567	0.720048	0	0	1	0	0	UTR3	UTR3	UTR3	UBAP1(NM_016525:c.*597T>C,NM_001171204:c.*597T>C,NM_001171203:c.*597T>C,NM_001171202:c.*597T>C,NM_001171201:c.*597T>C)	UBAP1(uc022bfy.1:c.*597T>C,uc003zty.3:c.*597T>C,uc022bfz.1:c.*597T>C,uc003ztx.3:c.*597T>C,uc011loj.2:c.*597T>C,uc011loi.2:c.*597T>C,uc003ztz.3:c.*597T>C)	ENSG00000165006(ENST00000540348:c.*597T>C,ENST00000536252:c.*597T>C,ENST00000543944:c.*597T>C,ENST00000545103:c.*597T>C,ENST00000297661:c.*597T>C,ENST00000379186:c.*597T>C,ENST00000359544:c.*597T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	931;44|42	Hom;T>C	2189;0|77
N	N	-	9	34252466	34252470	GCTAA	G	indel	UTR3	*936_*940delinsG	 	 	 	UBAP1	Ubap1	ENSG00000165006	ubiquitin associated protein 1	chr9:34179003-34252521	This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]	Frontotemporal Lobar Degeneration	 	Endosomal Sorting Complex Required For Transport (ESCRT)	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0019058;viral life cycle;TAS|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:0075733;intracellular transport of virus;TAS	GO:0000813;ESCRT I complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;TAS	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBAP1			https://www.ncbi.nlm.nih.gov/omim/?term=609787	http://www.informatics.jax.org/searchtool/Search.do?query=UBAP1&submit=Quick%0D%11446ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP1	rs10565742	0.758986	0	0	1	0	0	UTR3	UTR3	UTR3	KIF24(NM_194313:c.*1912_*1908delinsC),UBAP1(NM_016525:c.*936_*940delinsG,NM_001171204:c.*936_*940delinsG,NM_001171203:c.*936_*940delinsG,NM_001171202:c.*936_*940delinsG,NM_001171201:c.*936_*940delinsG)	KIF24(uc003zua.4:c.*1912_*1908delinsC),UBAP1(uc022bfy.1:c.*936_*940delinsG,uc003zty.3:c.*936_*940delinsG,uc022bfz.1:c.*936_*940delinsG,uc003ztx.3:c.*936_*940delinsG,uc011loj.2:c.*936_*940delinsG,uc011loi.2:c.*936_*940delinsG,uc003ztz.3:c.*936_*940delinsG)	ENSG00000165006(ENST00000540348:c.*936_*940delinsG,ENST00000536252:c.*936_*940delinsG,ENST00000543944:c.*936_*940delinsG,ENST00000545103:c.*936_*940delinsG,ENST00000297661:c.*936_*940delinsG,ENST00000379186:c.*936_*940delinsG,ENST00000359544:c.*936_*940delinsG),ENSG00000186638(ENST00000345050:c.*1912_*1908delinsC,ENST00000379166:c.*1912_*1908delinsC,ENST00000379174:c.*1912_*1908delinsC,ENST00000402558:c.*1912_*1908delinsC)	Na	Na	Na	Na	Na	Na	Het;-CTAA	1121;34|30	Hom;-CTAA	1403;0|32
N	N	-	9	34318708	34318708	A	C	snp	ncRNA_exonic	 	 	 	 	SERPINH1P1																		rs10972056	0.736422	0	0	1	0	0	intronic	intronic	ncRNA_exonic	KIF24	KIF24	ENSG00000229207	Na	Na	Na	Na	Na	Na	Het;A>C	837;51|43	Hom;A>C	2311;0|84
N	N	-	9	34320264	34320264	A	G	snp	intronic	 	 	 	 	KIF24	Kif24	ENSG00000186638	kinesin family member 24	chr9:34252379-34329198	Kinesins, such as KIF24, are microtubule-dependent ATPases that function as molecular motors. They play important roles in intracellular vesicle transport and cell division (summary by Venturelli et al., 2010 [PubMed 20670673]).[supplied by OMIM, Feb 2011]	Frontotemporal Lobar Degeneration	 	Anchoring of the basal body to the plasma membrane	GO:0007018;microtubule-based movement;IBA|GO:0007019;microtubule depolymerization;IDA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0043234;protein complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF24			https://www.ncbi.nlm.nih.gov/omim/?term=613747	http://www.informatics.jax.org/searchtool/Search.do?query=KIF24&submit=Quick%0D%15684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF24	rs7867248	0.784145	0	0	1	0	0	intronic	intronic	intronic	KIF24	KIF24	ENSG00000186638	Na	Na	Na	Na	Na	Na	Het;A>G	108;6|7	Hom;A>G	323;0|12
N	N	-	9	34895008	34895008	T	C	snp	ncRNA_intronic	 	 	 	 	FAM205C																		rs276670	0.250799	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	FAM205BP(dist=56425),KIAA1045(dist=62476)	FAM205B(dist=56425),KIAA1045(dist=62513)	ENSG00000187791	Na	Na	Na	Na	Na	Na	Het;T>C	401;39|22	Hom;T>C	1456;0|57
N	N	-	9	34895598	34895598	A	C	snp	ncRNA_exonic	 	 	 	 	FAM205C																		rs276671	0.251997	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FAM205BP(dist=57015),KIAA1045(dist=61886)	FAM205B(dist=57015),KIAA1045(dist=61923)	ENSG00000187791	Na	Na	Na	Na	Na	Na	Het;A>C	735;49|35	Hom;A>C	1883;0|67
N	N	-	9	34895767	34895767	A	G	snp	ncRNA_exonic	 	 	 	 	FAM205C																		rs276672	0.251997	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	FAM205BP(dist=57184),KIAA1045(dist=61717)	FAM205B(dist=57184),KIAA1045(dist=61754)	ENSG00000187791	Na	Na	Na	Na	Na	Na	Het;A>G	627;26|28	Hom;A>G	1452;0|51
N	N	-	9	34926628	34926628	T	G	snp	intergenic	 	 	 	 	YWHAZP6																		rs58109322	0.285543	0	0	1	0	0	intergenic	intergenic	intergenic	FAM205BP(dist=88045),KIAA1045(dist=30856)	FAM205B(dist=88045),KIAA1045(dist=30893)	ENSG00000215199(dist=3710),ENSG00000122733(dist=30856)	Na	Na	Na	Na	Na	Na	Het;T>G	379;26|18	Hom;T>G	1199;0|41
N	N	-	9	35295984	35295984	T	C	snp	intronic	 	 	 	 	UNC13B	Unc13b	ENSG00000198722	unc-13 homolog B	chr9:35161999-35405335	This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]	Parkinson Disease; diabetes, type 1 ; Tobacco Use Disorder	Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures.	Acetylcholine Neurotransmitter Release Cycle	GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0010808;positive regulation of synaptic vesicle priming;ISS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0016081;synaptic vesicle docking;IEA|GO:0016082;synaptic vesicle priming;ISS|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0048172;regulation of short-term neuronal synaptic plasticity;IEA|GO:0050714;positive regulation of protein secretion;IDA|GO:0060384;innervation;IEA|GO:0071333;cellular response to glucose stimulus;IDA|GO:0090382;phagosome maturation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:0099525;presynaptic dense core vesicle exocytosis;IEA|GO:1900426;positive regulation of defense response to bacterium;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032009;early phagosome;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0097470;ribbon synapse;IEA|GO:0098793;presynapse;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;ISS|GO:0017137;Rab GTPase binding;NAS|GO:0019992;diacylglycerol binding;IEA|GO:0030742;GTP-dependent protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UNC13B			https://www.ncbi.nlm.nih.gov/omim/?term=605836	http://www.informatics.jax.org/searchtool/Search.do?query=UNC13B&submit=Quick%0D%16975ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13B	rs661712	0.603834	0	0	1	0	0	intronic	intronic	intronic	UNC13B	UNC13B	ENSG00000198722	Na	Na	Na	Na	Na	Na	Het;T>C	309;13|13	Hom;T>C	1214;0|37
N	N	-	9	35646298	35646310	CTCCCCCTGAGGG	C	indel	ncRNA_exonic	 	 	 	 	AL357874.1																		rs112832667	0.330272	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CD72(dist=27874),SIT1(dist=2987)	NONE(dist=NONE),SIT1(dist=2987)	ENSG00000227933	Na	Na	Na	Na	Na	Na	Het;-TCCCCCTGAGGG	1415;34|37	Hom;-TCCCCCTGAGGG	2891;1|70
N	N	-	9	35647047	35647047	C	G	snp	ncRNA_exonic	 	 	 	 	AL357874.1																		rs3138086	0.552516	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	CD72(dist=28623),SIT1(dist=2250)	NONE(dist=NONE),SIT1(dist=2250)	ENSG00000227933	Na	Na	Na	Na	Na	Na	Het;C>G	2381;95|105	Hom;C>G	5277;0|180
N	N	-	9	35682255	35682255	G	C	snp	UTR3	*450C>G	 	 	 	TPM2	Tpm2	ENSG00000198467	tropomyosin 2	chr9:35681989-35691017	This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]	Type 2 Diabetes| edema | rosiglitazone; Arthrogryposis|Clubfoot|; Exercise Test	Homozygous mice for a null allele exhibit embryonic lethality. Heterozygotes develop cataracts and show impaired healing of lens wounds.	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IBA|GO:0030049;muscle filament sliding;TAS|GO:0043462;regulation of ATPase activity;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005862;muscle thin filament tropomyosin;TAS|GO:0005884;actin filament;IBA	GO:0003779;actin binding;IDA|GO:0008307;structural constituent of muscle;TAS|GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TPM2		https://hpo.jax.org/app/browse/search?q=TPM2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190990	http://www.informatics.jax.org/searchtool/Search.do?query=TPM2&submit=Quick%0D%16902ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TPM2	rs10972558	0.174321	0	0	1	0	0	intronic	intronic	UTR3	TPM2	TPM2	ENSG00000198467(ENST00000378300:c.*450C>G)	Na	Na	Na	Na	Na	Na	Het;G>C	157;2|7	Hom;G>C	107;0|5
N	N	-	9	35870001	35870001	T	C	snp	nonsynonymous SNV	A398G	H133R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	OR13J1	Olfr71	ENSG00000168828	olfactory receptor family 13 subfamily J member 1	chr9:35869375-35870461	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR13J1				http://www.informatics.jax.org/searchtool/Search.do?query=OR13J1&submit=Quick%0D%12355ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13J1	rs7044405	0.645767	0.6520	0.6192	0.15	2	13	exonic	exonic	exonic	OR13J1	OR13J1	ENSG00000168828	nonsynonymous SNV	nonsynonymous SNV	unknown	OR13J1:NM_001004487:exon1:c.A398G:p.H133R,	OR13J1:uc011lph.2:exon1:c.A398G:p.H133R,	UNKNOWN	Het;T>C	2600;119|128	Hom;T>C	6752;2|244
N	N	-	9	36163939	36163939	A	G	snp	downstream	 	 	 	 	GLIPR2	Glipr2	ENSG00000122694	GLI pathogenesis related 2	chr9:36136732-36163910		smoking cessation; Blood Pressure	 		GO:0010634;positive regulation of epithelial cell migration;IDA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA	GO:0000139;Golgi membrane;IDA|GO:0005576;extracellular region;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLIPR2	https://www.uniprot.org/uniprot/Q9H4G4		https://www.ncbi.nlm.nih.gov/omim/?term=607141	http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR2&submit=Quick%0D%5442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR2	rs10814343	0.508387	0	0	1	0	0	downstream	downstream	downstream	GLIPR2	GLIPR2	ENSG00000122694	Na	Na	Na	Na	Na	Na	Het;A>G	933;39|44	Hom;A>G	1352;0|49
N	N	-	9	36169598	36169598	T	C	snp	synonymous SNV	T99C	S33S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CCIN	Ccin	ENSG00000185972	calicin	chr9:36169389-36171329	The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008]	smoking cessation	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IBA|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA|GO:0033150;cytoskeletal calyx;IEA	GO:0003779;actin binding;IBA|GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CCIN			https://www.ncbi.nlm.nih.gov/omim/?term=603960	http://www.informatics.jax.org/searchtool/Search.do?query=CCIN&submit=Quick%0D%15538ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCIN	rs3739609	0.501797	0.4918	0.4405	1	0	0	exonic	exonic	exonic	CCIN	CCIN	ENSG00000185972	synonymous SNV	synonymous SNV	unknown	CCIN:NM_005893:exon1:c.T99C:p.S33S,	CCIN:uc003zzb.4:exon1:c.T99C:p.S33S,	UNKNOWN	Het;T>C	1025;100|50	Hom;T>C	3276;0|121
N	N	-	9	36214971	36214971	G	A	snp	UTR3	*2391C>T	 	 	 	GNE	Gne	ENSG00000159921	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	chr9:36214438-36277053	The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Distal Myopathies|Myositis, Inclusion Body; Forced Expiratory Volume; smoking cessation	Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. A knockout mouse expressing the human V572L mutation shows features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.	Sialic acid metabolism	GO:0006045;N-acetylglucosamine biosynthetic process;IEA|GO:0006047;UDP-N-acetylglucosamine metabolic process;IEA|GO:0006054;N-acetylneuraminate metabolic process;TAS|GO:0007155;cell adhesion;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046835;carbohydrate phosphorylation;IEA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008761;UDP-N-acetylglucosamine 2-epimerase activity;TAS|GO:0009384;N-acylmannosamine kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNE		https://hpo.jax.org/app/browse/search?q=GNE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603824	http://www.informatics.jax.org/searchtool/Search.do?query=GNE&submit=Quick%0D%10385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNE	rs1043313	0.569289	0	0	1	0	0	UTR3	UTR3	UTR3	GNE(NM_001190388:c.*2391C>T,NM_001190384:c.*2391C>T,NM_001190383:c.*2391C>T,NM_005476:c.*2391C>T,NM_001128227:c.*2391C>T)	GNE(uc010mlh.3:c.*2391C>T,uc010mlg.3:c.*2391C>T,uc011lpl.2:c.*2391C>T,uc010mli.3:c.*2391C>T,uc010mlj.3:c.*2391C>T)	ENSG00000159921(ENST00000396594:c.*2391C>T,ENST00000539815:c.*917C>T)	Na	Na	Na	Na	Na	Na	Het;G>A	322;19|17	Hom;G>A	728;0|27
N	N	-	9	36276857	36276857	A	G	snp	intronic	 	 	 	 	GNE	Gne	ENSG00000159921	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	chr9:36214438-36277053	The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Distal Myopathies|Myositis, Inclusion Body; Forced Expiratory Volume; smoking cessation	Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. A knockout mouse expressing the human V572L mutation shows features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.	Sialic acid metabolism	GO:0006045;N-acetylglucosamine biosynthetic process;IEA|GO:0006047;UDP-N-acetylglucosamine metabolic process;IEA|GO:0006054;N-acetylneuraminate metabolic process;TAS|GO:0007155;cell adhesion;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046835;carbohydrate phosphorylation;IEA	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008761;UDP-N-acetylglucosamine 2-epimerase activity;TAS|GO:0009384;N-acylmannosamine kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNE		https://hpo.jax.org/app/browse/search?q=GNE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603824	http://www.informatics.jax.org/searchtool/Search.do?query=GNE&submit=Quick%0D%10385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNE	rs7875447	0.651757	0.7861	0.7275	1	0	0	intronic	intronic	intronic	GNE	GNE	ENSG00000122705,ENSG00000159921	Na	Na	Na	Na	Na	Na	Het;A>G	714;33|34	Hom;A>G	2893;2|102
N	N	-	9	3824934	3824936	AAT	A	indel	UTR3	*3338_*3336delinsT	 	 	 	GLIS3	Glis3	ENSG00000107249	GLIS family zinc finger 3	chr9:3824127-4348392	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]	fasting glucose-related traits ; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Tobacco Use Disorder; type 1 diabetes; smoking cessation; diabetes, type 1 ; glucose-stimulated beta cell function	Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLIS3	https://www.uniprot.org/uniprot/Q8NEA6	https://hpo.jax.org/app/browse/search?q=GLIS3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610192	http://www.informatics.jax.org/searchtool/Search.do?query=GLIS3&submit=Quick%0D%3591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIS3	rs66766243	0.996406	0	0	1	0	0	UTR3	UTR3	UTR3	GLIS3(NM_152629:c.*3338_*3336delinsT,NM_001042413:c.*3338_*3336delinsT)	GLIS3(uc010mhf.1:c.*3338_*3336delinsT,uc003zhw.1:c.*3338_*3336delinsT,uc003zhx.1:c.*3338_*3336delinsT)	ENSG00000107249(ENST00000324333:c.*3338_*3336delinsT)	Na	Na	Na	Na	Na	Na	Het;-AT	77;8|7	Hom;-AT	270;0|8
N	N	-	9	38620375	38620375	T	C	snp	UTR5	-93A>G	 	 	 	ANKRD18A	 	ENSG00000180071	ankyrin repeat domain 18A	chr9:38540566-38577204			 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD18A				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD18A&submit=Quick%0D%14429ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD18A	rs7023491	0.372804	0	0	1	0	0	upstream	upstream	UTR5	ANKRD18A,FAM201A	ANKRD18A,FAM201A	ENSG00000180071(ENST00000399703:c.-93A>G)	Na	Na	Na	Na	Na	Na	Het;T>C	217;10|9	Hom;T>C	1313;0|35
N	N	-	9	397050	397050	A	T	snp	intronic	 	 	 	 	DOCK8	Dock8	ENSG00000107099	dedicator of cytokinesis 8	chr9:214854-465259	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Platelet Count; Heart Failure	Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.	Factors involved in megakaryocyte development and platelet production	GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOCK8	https://www.uniprot.org/uniprot/Q8NF50	https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611432	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8	rs3818619	0.471046	0	0	1	0	0	intronic	intronic	intronic	DOCK8	DOCK8	ENSG00000107099	Na	Na	Na	Na	Na	Na	Het;A>T	146;9|6	Hom;A>T	779;0|24
N	N	-	9	40715910	40715944	GGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	G	indel	ncRNA_exonic	 	 	 	 	FAM74A3																		rs764952632	0	0.1905	0.1816	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	FAM74A3	FAM74A3	ENSG00000204844	Na	Na	Na	Na	Na	Na	Het;-GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	2198;50|62	Hom;-GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	4120;0|98
N	N	-	9	4701841	4701842	GT	G	indel	intronic	 	 	 	 	CDC37L1	Cdc37l1	ENSG00000106993	cell division cycle 37 like 1	chr9:4679559-4708398	CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]		 	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0006457;protein folding;IBA|GO:0050821;protein stabilization;IBA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031089;platelet dense granule lumen;TAS	GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IBA|GO:0051082;unfolded protein binding;IBA|GO:0051087;chaperone binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CDC37L1	https://www.uniprot.org/uniprot/Q7L3B6		https://www.ncbi.nlm.nih.gov/omim/?term=610346	http://www.informatics.jax.org/searchtool/Search.do?query=CDC37L1&submit=Quick%0D%3568ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC37L1	rs398046409	0	0	0.5966	1	0	0	intronic	intronic	intronic	CDC37L1	CDC37L1	ENSG00000106993	Na	Na	Na	Na	Na	Na	Het;-T	893;7|45	Hom;-T	987;3|46
N	N	-	9	5069837	5069837	G	A	snp	intronic	 	 	 	 	JAK2	Jak2	ENSG00000096968	Janus kinase 2	chr9:4985033-5128183	This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]	Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; thrombosis, deep vein; Budd-Chiari Syndrome|Myeloproliferative Disorders; Myeloproliferative Disorders|Neoplasms|Venous Thromboembolism; breast cancer; leukemia, acute myelogenous; Myeloproliferative Disorders|Thrombophilia|Thrombosis; myeloid leukemia; Insulin Resistance; Polycythemia Vera(C15.378.190.636.753)/enzymology|Polycythemia(C15.378.738)/enzymology; Leukemia, Myeloid|Translocation, Genetic; Myeloproliferative Disorders|Thrombosis; Blast Crisis|Blast Phase|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Crohn Disease|Crohn's disease|DNA Damage|Genomic Instability; multiple sclerosis; thrombosis; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; erythrocytosis; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; height; Anemia, Iron-Deficiency|Polycythemia Vera; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloproliferative Disorders; Pregnancy Complications|Thrombocythemia, Essential; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Myeloid|Myeloid Leukemia|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic|Thrombosis; thrombocythemia; null; Thrombocythemia, Essential; splanchnic vein thrombosis; Hematologic Neoplasms|Polycythemia Vera|Thrombocythemia, Essential; ulcerative colitis; Myeloproliferative Disorders|Thrombophilia|Venous Thrombosis; Budd-Chiari Syndrome|Venous Thrombosis; Myeloproliferative Disorders|Venous Thrombosis; myeloproliferative disease; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Thrombosis; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; Down Syndrome|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hematologic Neoplasms; thromboembolism, venous; intra-abdominal thromboses; Genetic Diseases, Inborn|Polycythemia Vera|Thrombocythemia, Essential; adiposity; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Dengue Hemorrhagic Fever; Myeloproliferative Disorders|Neovascularization, Pathologic; Myeloproliferative Disorders|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; Myeloproliferative Disorders|Polycythemia|Polycythemia Vera|Thrombocythemia, Essential|Thrombocytosis; Polycythemia Vera|Primary Myelofibrosis; Lymphoma, Large-Cell, Immunoblastic|Mediastinal Neoplasms; Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Myelodysplastic Syndromes|Myeloproliferative Disorders|Polycythemia Vera|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombocythemia, Essential; Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Hepatitis B, Chronic|Viremia; Thrombocytosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Anemia, Refractory|Anemia, Sideroblastic|Myelodysplastic Syndromes|Thrombocytosis; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; fetal loss thrombocythemia; Polycythemia Vera; leukemia; Budd-Chiari syndrome hematology indices polycythemia vera; Arterial Occlusive Diseases|Myeloproliferative Disorders|Thrombosis; Thrombocythemia, Essential|Thrombophilia|Thrombosis; Myeloproliferative Disorders|Polycythemia Vera; Tobacco Use Disorder; Hematologic Neoplasms|Myeloproliferative Disorders; myelofibrosis; Primary Myelofibrosis|Thrombocythemia, Essential; Polycythemia|Polycythemia Vera; Primary Myelofibrosis|Recurrence|Thrombosis|Venous Thrombosis; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Chromosome Aberrations|Leukemia, Myeloid, Acute|Primary Myelofibrosis|Thrombocythemia, Essential|Trisomy; leucocytosis myelofibrosis polycythemia vera splenomegaly thrombocythemia thrombosis; Venous Thrombosis; Primary Myelofibrosis; essential thrombocythemia myelofibrosis polycythemia vera splenomegaly thrombosis; Primary Myelofibrosis|Thrombocythemia, Essential|Thrombosis; Leukemia, Myeloid, Acute; myeloproliferative neoplasms; Blast Crisis|Blast Phase|Myeloproliferative Disorders; Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential; Polycythemia Vera|Thrombocythemia, Essential|Thrombosis; myeloproliferative disorders; Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Thrombophilia|Venous Thromboembolism; Lymphoproliferative Disorders|Myelodysplastic Syndromes; Pancreatic Neoplasms; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Rheumatoid spondylitis|Spondylitis, Ankylosing; thyroid cancer; myelofibrosis myeloproliferative disorder polycythemia vera thrombocythemia; Cell Transformation, Neoplastic|Leucocytosis|Leukemia|Leukocytosis|Polycythemia Vera|Primary Myelofibrosis|Vascular Diseases; polycythemia vera thrombocythemia; Hemorrhage|Myeloproliferative Disorders|Thrombosis|Vascular Diseases; Myeloproliferative Disorders|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic|Thrombosis; Thrombophilia; Thrombocythemia, Essential|Thrombosis; Myeloproliferative Disorders; Lymphoma|Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential; Polycythemia Vera|Thrombocythemia, Essential; Leukemia, Myelomonocytic, Chronic; Crohn's disease; cerebral venous thrombosis venous thrombosis, splanchnic; Crohn Disease|; polycythemia vera; Leukocytosis|Thrombocythemia, Essential|Thrombocytosis; Cell Transformation, Neoplastic|Leukemia|Myelofibrosis|Primary Myelofibrosis|Splenomegaly; Neovascularization, Pathologic|Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Genomic Instability|Myeloproliferative Disorders; Primary Myelofibrosis|Recurrence; Leucocytosis|Leukocytosis|Thrombocythemia, Hemorrhagic|Thrombosis	Homozygotes for null mutations die during midgestation due to a failure of erythropoieses.  Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.	Factors involved in megakaryocyte development and platelet production	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;ISS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0006928;movement of cell or subcellular component;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;ISS|GO:0007167;enzyme linked receptor protein signaling pathway;ISS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007259;JAK-STAT cascade;TAS|GO:0007260;tyrosine phosphorylation of STAT protein;IBA|GO:0007262;STAT protein import into nucleus;ISS|GO:0007498;mesoderm development;TAS|GO:0007596;blood coagulation;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009755;hormone-mediated signaling pathway;IEA|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0016569;covalent chromatin modification;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030041;actin filament polymerization;NAS|GO:0030154;cell differentiation;ISS|GO:0030218;erythrocyte differentiation;IBA|GO:0030335;positive regulation of cell migration;IEA|GO:0031103;axon regeneration;IEA|GO:0031959;mineralocorticoid receptor signaling pathway;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0032496;response to lipopolysaccharide;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;ISS|GO:0033160;positive regulation of protein import into nucleus, translocation;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0034612;response to tumor necrosis factor;IDA|GO:0035409;histone H3-Y41 phosphorylation;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0035722;interleukin-12-mediated signaling pathway;IDA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;ISS|GO:0042976;activation of Janus kinase activity;ISS|GO:0042981;regulation of apoptotic process;IBA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043392;negative regulation of DNA binding;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045822;negative regulation of heart contraction;IEA|GO:0046677;response to antibiotic;IDA|GO:0046777;protein autophosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0050727;regulation of inflammatory response;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050867;positive regulation of cell activation;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060396;growth hormone receptor signaling pathway;IDA|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0060399;positive regulation of growth hormone receptor signaling pathway;ISS|GO:0060548;negative regulation of cell death;IEA|GO:0061180;mammary gland epithelium development;ISS|GO:0070671;response to interleukin-12;IDA|GO:0097191;extrinsic apoptotic signaling pathway;ISS|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;ISS|GO:1902728;positive regulation of growth factor dependent skeletal muscle satellite cell proliferation;IEA|GO:1904037;positive regulation of epithelial cell apoptotic process;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;ISS|GO:0005925;focal adhesion;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0031904;endosome lumen;TAS|GO:0045121;membrane raft;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IPI|GO:0005131;growth hormone receptor binding;IEA|GO:0005143;interleukin-12 receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IDA|GO:0020037;heme binding;IDA|GO:0031702;type 1 angiotensin receptor binding;IEA|GO:0033130;acetylcholine receptor binding;IEA|GO:0035401;histone kinase activity (H3-Y41 specific);IDA|GO:0042169;SH2 domain binding;IPI|GO:0042393;histone binding;IEA|GO:0043548;phosphatidylinositol 3-kinase binding;IEA|GO:0043560;insulin receptor substrate binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051428;peptide hormone receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JAK2	https://www.uniprot.org/uniprot/O60674	https://hpo.jax.org/app/browse/search?q=JAK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147796	http://www.informatics.jax.org/searchtool/Search.do?query=JAK2&submit=Quick%0D%2289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JAK2	rs7869668	0.615016	0	0	1	0	0	intronic	intronic	intronic	JAK2	JAK2	ENSG00000096968	Na	Na	Na	Na	Na	Na	Het;G>A	176;7|7	Hom;G>A	338;0|11
N	N	-	9	5081780	5081780	G	A	snp	synonymous SNV	G2490A	L830L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	JAK2	Jak2	ENSG00000096968	Janus kinase 2	chr9:4985033-5128183	This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]	Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; thrombosis, deep vein; Budd-Chiari Syndrome|Myeloproliferative Disorders; Myeloproliferative Disorders|Neoplasms|Venous Thromboembolism; breast cancer; leukemia, acute myelogenous; Myeloproliferative Disorders|Thrombophilia|Thrombosis; myeloid leukemia; Insulin Resistance; Polycythemia Vera(C15.378.190.636.753)/enzymology|Polycythemia(C15.378.738)/enzymology; Leukemia, Myeloid|Translocation, Genetic; Myeloproliferative Disorders|Thrombosis; Blast Crisis|Blast Phase|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Crohn Disease|Crohn's disease|DNA Damage|Genomic Instability; multiple sclerosis; thrombosis; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; erythrocytosis; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; height; Anemia, Iron-Deficiency|Polycythemia Vera; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloproliferative Disorders; Pregnancy Complications|Thrombocythemia, Essential; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Myeloid|Myeloid Leukemia|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic|Thrombosis; thrombocythemia; null; Thrombocythemia, Essential; splanchnic vein thrombosis; Hematologic Neoplasms|Polycythemia Vera|Thrombocythemia, Essential; ulcerative colitis; Myeloproliferative Disorders|Thrombophilia|Venous Thrombosis; Budd-Chiari Syndrome|Venous Thrombosis; Myeloproliferative Disorders|Venous Thrombosis; myeloproliferative disease; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Thrombosis; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; Down Syndrome|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hematologic Neoplasms; thromboembolism, venous; intra-abdominal thromboses; Genetic Diseases, Inborn|Polycythemia Vera|Thrombocythemia, Essential; adiposity; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Dengue Hemorrhagic Fever; Myeloproliferative Disorders|Neovascularization, Pathologic; Myeloproliferative Disorders|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; Myeloproliferative Disorders|Polycythemia|Polycythemia Vera|Thrombocythemia, Essential|Thrombocytosis; Polycythemia Vera|Primary Myelofibrosis; Lymphoma, Large-Cell, Immunoblastic|Mediastinal Neoplasms; Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Myelodysplastic Syndromes|Myeloproliferative Disorders|Polycythemia Vera|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombocythemia, Essential; Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Hepatitis B, Chronic|Viremia; Thrombocytosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Anemia, Refractory|Anemia, Sideroblastic|Myelodysplastic Syndromes|Thrombocytosis; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; fetal loss thrombocythemia; Polycythemia Vera; leukemia; Budd-Chiari syndrome hematology indices polycythemia vera; Arterial Occlusive Diseases|Myeloproliferative Disorders|Thrombosis; Thrombocythemia, Essential|Thrombophilia|Thrombosis; Myeloproliferative Disorders|Polycythemia Vera; Tobacco Use Disorder; Hematologic Neoplasms|Myeloproliferative Disorders; myelofibrosis; Primary Myelofibrosis|Thrombocythemia, Essential; Polycythemia|Polycythemia Vera; Primary Myelofibrosis|Recurrence|Thrombosis|Venous Thrombosis; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Chromosome Aberrations|Leukemia, Myeloid, Acute|Primary Myelofibrosis|Thrombocythemia, Essential|Trisomy; leucocytosis myelofibrosis polycythemia vera splenomegaly thrombocythemia thrombosis; Venous Thrombosis; Primary Myelofibrosis; essential thrombocythemia myelofibrosis polycythemia vera splenomegaly thrombosis; Primary Myelofibrosis|Thrombocythemia, Essential|Thrombosis; Leukemia, Myeloid, Acute; myeloproliferative neoplasms; Blast Crisis|Blast Phase|Myeloproliferative Disorders; Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential; Polycythemia Vera|Thrombocythemia, Essential|Thrombosis; myeloproliferative disorders; Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Thrombophilia|Venous Thromboembolism; Lymphoproliferative Disorders|Myelodysplastic Syndromes; Pancreatic Neoplasms; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Rheumatoid spondylitis|Spondylitis, Ankylosing; thyroid cancer; myelofibrosis myeloproliferative disorder polycythemia vera thrombocythemia; Cell Transformation, Neoplastic|Leucocytosis|Leukemia|Leukocytosis|Polycythemia Vera|Primary Myelofibrosis|Vascular Diseases; polycythemia vera thrombocythemia; Hemorrhage|Myeloproliferative Disorders|Thrombosis|Vascular Diseases; Myeloproliferative Disorders|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic|Thrombosis; Thrombophilia; Thrombocythemia, Essential|Thrombosis; Myeloproliferative Disorders; Lymphoma|Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential; Polycythemia Vera|Thrombocythemia, Essential; Leukemia, Myelomonocytic, Chronic; Crohn's disease; cerebral venous thrombosis venous thrombosis, splanchnic; Crohn Disease|; polycythemia vera; Leukocytosis|Thrombocythemia, Essential|Thrombocytosis; Cell Transformation, Neoplastic|Leukemia|Myelofibrosis|Primary Myelofibrosis|Splenomegaly; Neovascularization, Pathologic|Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Genomic Instability|Myeloproliferative Disorders; Primary Myelofibrosis|Recurrence; Leucocytosis|Leukocytosis|Thrombocythemia, Hemorrhagic|Thrombosis	Homozygotes for null mutations die during midgestation due to a failure of erythropoieses.  Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.	Factors involved in megakaryocyte development and platelet production	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;ISS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0006928;movement of cell or subcellular component;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;ISS|GO:0007167;enzyme linked receptor protein signaling pathway;ISS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007259;JAK-STAT cascade;TAS|GO:0007260;tyrosine phosphorylation of STAT protein;IBA|GO:0007262;STAT protein import into nucleus;ISS|GO:0007498;mesoderm development;TAS|GO:0007596;blood coagulation;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009755;hormone-mediated signaling pathway;IEA|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0016569;covalent chromatin modification;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030041;actin filament polymerization;NAS|GO:0030154;cell differentiation;ISS|GO:0030218;erythrocyte differentiation;IBA|GO:0030335;positive regulation of cell migration;IEA|GO:0031103;axon regeneration;IEA|GO:0031959;mineralocorticoid receptor signaling pathway;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0032496;response to lipopolysaccharide;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;ISS|GO:0033160;positive regulation of protein import into nucleus, translocation;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0034612;response to tumor necrosis factor;IDA|GO:0035409;histone H3-Y41 phosphorylation;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0035722;interleukin-12-mediated signaling pathway;IDA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;ISS|GO:0042976;activation of Janus kinase activity;ISS|GO:0042981;regulation of apoptotic process;IBA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043392;negative regulation of DNA binding;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045822;negative regulation of heart contraction;IEA|GO:0046677;response to antibiotic;IDA|GO:0046777;protein autophosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0050727;regulation of inflammatory response;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050867;positive regulation of cell activation;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060396;growth hormone receptor signaling pathway;IDA|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0060399;positive regulation of growth hormone receptor signaling pathway;ISS|GO:0060548;negative regulation of cell death;IEA|GO:0061180;mammary gland epithelium development;ISS|GO:0070671;response to interleukin-12;IDA|GO:0097191;extrinsic apoptotic signaling pathway;ISS|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;ISS|GO:1902728;positive regulation of growth factor dependent skeletal muscle satellite cell proliferation;IEA|GO:1904037;positive regulation of epithelial cell apoptotic process;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;ISS|GO:0005925;focal adhesion;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0031904;endosome lumen;TAS|GO:0045121;membrane raft;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IPI|GO:0005131;growth hormone receptor binding;IEA|GO:0005143;interleukin-12 receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IDA|GO:0020037;heme binding;IDA|GO:0031702;type 1 angiotensin receptor binding;IEA|GO:0033130;acetylcholine receptor binding;IEA|GO:0035401;histone kinase activity (H3-Y41 specific);IDA|GO:0042169;SH2 domain binding;IPI|GO:0042393;histone binding;IEA|GO:0043548;phosphatidylinositol 3-kinase binding;IEA|GO:0043560;insulin receptor substrate binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051428;peptide hormone receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JAK2	https://www.uniprot.org/uniprot/O60674	https://hpo.jax.org/app/browse/search?q=JAK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147796	http://www.informatics.jax.org/searchtool/Search.do?query=JAK2&submit=Quick%0D%2289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JAK2	rs2230724	0.616813	0.6243	0.5328	1	0	0	exonic	exonic	exonic	JAK2	JAK2	ENSG00000096968	synonymous SNV	synonymous SNV	unknown	JAK2:NM_004972:exon19:c.G2490A:p.L830L,	JAK2:uc010mhm.3:exon18:c.G2490A:p.L830L,JAK2:uc003ziw.3:exon19:c.G2490A:p.L830L,	UNKNOWN	Het;G>A	883;66|47	Hom;G>A	2504;3|95
N	N	-	9	5084837	5084837	T	A	snp	intronic	 	 	 	 	JAK2	Jak2	ENSG00000096968	Janus kinase 2	chr9:4985033-5128183	This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]	Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; thrombosis, deep vein; Budd-Chiari Syndrome|Myeloproliferative Disorders; Myeloproliferative Disorders|Neoplasms|Venous Thromboembolism; breast cancer; leukemia, acute myelogenous; Myeloproliferative Disorders|Thrombophilia|Thrombosis; myeloid leukemia; Insulin Resistance; Polycythemia Vera(C15.378.190.636.753)/enzymology|Polycythemia(C15.378.738)/enzymology; Leukemia, Myeloid|Translocation, Genetic; Myeloproliferative Disorders|Thrombosis; Blast Crisis|Blast Phase|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Crohn Disease|Crohn's disease|DNA Damage|Genomic Instability; multiple sclerosis; thrombosis; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; erythrocytosis; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; height; Anemia, Iron-Deficiency|Polycythemia Vera; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloproliferative Disorders; Pregnancy Complications|Thrombocythemia, Essential; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Myeloid|Myeloid Leukemia|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic|Thrombosis; thrombocythemia; null; Thrombocythemia, Essential; splanchnic vein thrombosis; Hematologic Neoplasms|Polycythemia Vera|Thrombocythemia, Essential; ulcerative colitis; Myeloproliferative Disorders|Thrombophilia|Venous Thrombosis; Budd-Chiari Syndrome|Venous Thrombosis; Myeloproliferative Disorders|Venous Thrombosis; myeloproliferative disease; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Thrombosis; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; Down Syndrome|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hematologic Neoplasms; thromboembolism, venous; intra-abdominal thromboses; Genetic Diseases, Inborn|Polycythemia Vera|Thrombocythemia, Essential; adiposity; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Dengue Hemorrhagic Fever; Myeloproliferative Disorders|Neovascularization, Pathologic; Myeloproliferative Disorders|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; Myeloproliferative Disorders|Polycythemia|Polycythemia Vera|Thrombocythemia, Essential|Thrombocytosis; Polycythemia Vera|Primary Myelofibrosis; Lymphoma, Large-Cell, Immunoblastic|Mediastinal Neoplasms; Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Myelodysplastic Syndromes|Myeloproliferative Disorders|Polycythemia Vera|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombocythemia, Essential; Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Hepatitis B, Chronic|Viremia; Thrombocytosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Anemia, Refractory|Anemia, Sideroblastic|Myelodysplastic Syndromes|Thrombocytosis; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; fetal loss thrombocythemia; Polycythemia Vera; leukemia; Budd-Chiari syndrome hematology indices polycythemia vera; Arterial Occlusive Diseases|Myeloproliferative Disorders|Thrombosis; Thrombocythemia, Essential|Thrombophilia|Thrombosis; Myeloproliferative Disorders|Polycythemia Vera; Tobacco Use Disorder; Hematologic Neoplasms|Myeloproliferative Disorders; myelofibrosis; Primary Myelofibrosis|Thrombocythemia, Essential; Polycythemia|Polycythemia Vera; Primary Myelofibrosis|Recurrence|Thrombosis|Venous Thrombosis; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Chromosome Aberrations|Leukemia, Myeloid, Acute|Primary Myelofibrosis|Thrombocythemia, Essential|Trisomy; leucocytosis myelofibrosis polycythemia vera splenomegaly thrombocythemia thrombosis; Venous Thrombosis; Primary Myelofibrosis; essential thrombocythemia myelofibrosis polycythemia vera splenomegaly thrombosis; Primary Myelofibrosis|Thrombocythemia, Essential|Thrombosis; Leukemia, Myeloid, Acute; myeloproliferative neoplasms; Blast Crisis|Blast Phase|Myeloproliferative Disorders; Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential; Polycythemia Vera|Thrombocythemia, Essential|Thrombosis; myeloproliferative disorders; Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Thrombophilia|Venous Thromboembolism; Lymphoproliferative Disorders|Myelodysplastic Syndromes; Pancreatic Neoplasms; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Rheumatoid spondylitis|Spondylitis, Ankylosing; thyroid cancer; myelofibrosis myeloproliferative disorder polycythemia vera thrombocythemia; Cell Transformation, Neoplastic|Leucocytosis|Leukemia|Leukocytosis|Polycythemia Vera|Primary Myelofibrosis|Vascular Diseases; polycythemia vera thrombocythemia; Hemorrhage|Myeloproliferative Disorders|Thrombosis|Vascular Diseases; Myeloproliferative Disorders|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic|Thrombosis; Thrombophilia; Thrombocythemia, Essential|Thrombosis; Myeloproliferative Disorders; Lymphoma|Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential; Polycythemia Vera|Thrombocythemia, Essential; Leukemia, Myelomonocytic, Chronic; Crohn's disease; cerebral venous thrombosis venous thrombosis, splanchnic; Crohn Disease|; polycythemia vera; Leukocytosis|Thrombocythemia, Essential|Thrombocytosis; Cell Transformation, Neoplastic|Leukemia|Myelofibrosis|Primary Myelofibrosis|Splenomegaly; Neovascularization, Pathologic|Polycythemia Vera|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Genomic Instability|Myeloproliferative Disorders; Primary Myelofibrosis|Recurrence; Leucocytosis|Leukocytosis|Thrombocythemia, Hemorrhagic|Thrombosis	Homozygotes for null mutations die during midgestation due to a failure of erythropoieses.  Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.	Factors involved in megakaryocyte development and platelet production	GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;ISS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0006928;movement of cell or subcellular component;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007165;signal transduction;ISS|GO:0007167;enzyme linked receptor protein signaling pathway;ISS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007259;JAK-STAT cascade;TAS|GO:0007260;tyrosine phosphorylation of STAT protein;IBA|GO:0007262;STAT protein import into nucleus;ISS|GO:0007498;mesoderm development;TAS|GO:0007596;blood coagulation;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009755;hormone-mediated signaling pathway;IEA|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0016569;covalent chromatin modification;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030041;actin filament polymerization;NAS|GO:0030154;cell differentiation;ISS|GO:0030218;erythrocyte differentiation;IBA|GO:0030335;positive regulation of cell migration;IEA|GO:0031103;axon regeneration;IEA|GO:0031959;mineralocorticoid receptor signaling pathway;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0032496;response to lipopolysaccharide;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;ISS|GO:0033160;positive regulation of protein import into nucleus, translocation;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0034612;response to tumor necrosis factor;IDA|GO:0035409;histone H3-Y41 phosphorylation;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0035722;interleukin-12-mediated signaling pathway;IDA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;ISS|GO:0042976;activation of Janus kinase activity;ISS|GO:0042981;regulation of apoptotic process;IBA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043392;negative regulation of DNA binding;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045822;negative regulation of heart contraction;IEA|GO:0046677;response to antibiotic;IDA|GO:0046777;protein autophosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0050727;regulation of inflammatory response;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050867;positive regulation of cell activation;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060396;growth hormone receptor signaling pathway;IDA|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0060399;positive regulation of growth hormone receptor signaling pathway;ISS|GO:0060548;negative regulation of cell death;IEA|GO:0061180;mammary gland epithelium development;ISS|GO:0070671;response to interleukin-12;IDA|GO:0097191;extrinsic apoptotic signaling pathway;ISS|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;ISS|GO:1902728;positive regulation of growth factor dependent skeletal muscle satellite cell proliferation;IEA|GO:1904037;positive regulation of epithelial cell apoptotic process;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;ISS|GO:0005925;focal adhesion;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0031904;endosome lumen;TAS|GO:0045121;membrane raft;ISS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IPI|GO:0005131;growth hormone receptor binding;IEA|GO:0005143;interleukin-12 receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IDA|GO:0020037;heme binding;IDA|GO:0031702;type 1 angiotensin receptor binding;IEA|GO:0033130;acetylcholine receptor binding;IEA|GO:0035401;histone kinase activity (H3-Y41 specific);IDA|GO:0042169;SH2 domain binding;IPI|GO:0042393;histone binding;IEA|GO:0043548;phosphatidylinositol 3-kinase binding;IEA|GO:0043560;insulin receptor substrate binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051428;peptide hormone receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/JAK2	https://www.uniprot.org/uniprot/O60674	https://hpo.jax.org/app/browse/search?q=JAK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=147796	http://www.informatics.jax.org/searchtool/Search.do?query=JAK2&submit=Quick%0D%2289ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JAK2	rs6476939	0.620807	0	0	1	0	0	intronic	intronic	intronic	JAK2	JAK2	ENSG00000096968	Na	Na	Na	Na	Na	Na	Het;T>A	253;5|10	Hom;T>A	581;0|20
N	N	-	9	5085859	5085859	G	C	snp	ncRNA_exonic	 	 	 	 	PDSS1P1																		rs62543876	0.565296	0	0	1	0	0	intronic	intronic	ncRNA_exonic	JAK2	JAK2	ENSG00000182347	Na	Na	Na	Na	Na	Na	Het;G>C	230;4|9	Hom;G>C	525;0|17
N	N	-	9	5112844	5112844	G	A	snp	ncRNA_exonic	 	 	 	 	TCF3P1																		rs10815158	0.656749	0	0	1	0	0	intronic	intronic	ncRNA_exonic	JAK2	JAK2	ENSG00000236567	Na	Na	Na	Na	Na	Na	Het;G>A	182;17|12	Hom;G>A	850;0|32
N	N	-	9	5720172	5720172	C	G	snp	ncRNA_intronic	 	 	 	 	AL136980.1																		rs10758700	0.495208	0.3654	0.4956	1	0	0	intronic	intronic	ncRNA_intronic	RIC1	KIAA1432	ENSG00000225408	Na	Na	Na	Na	Na	Na	Het;C>G	1160;58|56	Hom;C>G	2879;0|99
N	N	-	9	5732483	5732483	T	C	snp	intronic	 	 	 	 	RIC1	Ric1																	rs7850299	0.482428	0.3561	0.4862	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;T>C	1057;78|53	Hom;T>C	2163;0|78
N	N	-	9	5732532	5732533	GT	G	indel	intronic	 	 	 	 	RIC1	Ric1																	rs541531550	0.474241	0	0	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;-T	189;26|14	Hom;-T	523;0|23
N	N	-	9	5754988	5754988	A	T	snp	intronic	 	 	 	 	RIC1	Ric1																	rs7038447	0.467652	0	0	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;A>T	175;18|10	Hom;A>T	830;0|30
N	N	-	9	5755022	5755022	T	A	snp	intronic	 	 	 	 	RIC1	Ric1																	rs12685557	0.344649	0	0	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;T>A	193;8|7	Hom;T>A	454;0|14
N	N	-	9	5756494	5756494	T	TA	indel	intronic	 	 	 	 	RIC1	Ric1																	rs143891502	0	0	0	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;+A	155;5|8	Hom;+A	230;0|9
N	N	-	9	5762533	5762533	A	C	snp	intronic	 	 	 	 	RIC1	Ric1																	rs1543526	0.397764	0.3288	0.4043	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;A>C	1026;47|48	Hom;A>C	2696;0|97
N	N	-	9	5769998	5769998	A	G	snp	intronic	 	 	 	 	RIC1	Ric1																	rs734548	0.53135	0	0	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000099219,ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;A>G	120;3|4	Hom;A>G	184;0|5
N	N	-	9	5770047	5770047	A	G	snp	intronic	 	 	 	 	RIC1	Ric1																	rs734549	0.370607	0.2891	0.4288	1	0	0	intronic	intronic	intronic	RIC1	KIAA1432	ENSG00000099219,ENSG00000107036	Na	Na	Na	Na	Na	Na	Het;A>G	282;3|10	Hom;A>G	653;0|19
N	N	-	9	5774225	5774225	T	G	snp	synonymous SNV	T4140G	T1380T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KIAA1432	 																	rs3739648	0.331869	0.2498	0.3517	1	0	0	exonic	exonic	exonic	RIC1	KIAA1432	ENSG00000107036	synonymous SNV	synonymous SNV	unknown	RIC1:NM_001206557:exon25:c.T4140G:p.T1380T,RIC1:NM_020829:exon26:c.T4251G:p.T1417T,	KIAA1432:uc003zjl.4:exon25:c.T4140G:p.T1380T,KIAA1432:uc003zji.4:exon26:c.T4251G:p.T1417T,	UNKNOWN	Het;T>G	564;38|26	Hom;T>G	1628;0|60
N	N	-	9	5801121	5801121	A	G	snp	intronic	 	 	 	 	ERMP1	Ermp1	ENSG00000099219	endoplasmic reticulum metallopeptidase 1	chr9:5765076-5833117		Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe	Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip.		GO:0006508;proteolysis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERMP1	https://www.uniprot.org/uniprot/Q7Z2K6		https://www.ncbi.nlm.nih.gov/omim/?term=611156	http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1	rs3824444	0.391573	0	0	1	0	0	intronic	intronic	intronic	ERMP1	ERMP1	ENSG00000099219	Na	Na	Na	Na	Na	Na	Het;A>G	262;9|11	Hom;A>G	418;0|14
N	N	-	9	5805001	5805001	A	G	snp	intronic	 	 	 	 	ERMP1	Ermp1	ENSG00000099219	endoplasmic reticulum metallopeptidase 1	chr9:5765076-5833117		Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe	Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip.		GO:0006508;proteolysis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERMP1	https://www.uniprot.org/uniprot/Q7Z2K6		https://www.ncbi.nlm.nih.gov/omim/?term=611156	http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1	rs10975289	0.408347	0.2807	0.4439	1	0	0	intronic	intronic	intronic	ERMP1	ERMP1	ENSG00000099219	Na	Na	Na	Na	Na	Na	Het;A>G	447;16|20	Hom;A>G	1030;1|33
N	N	-	9	5813077	5813077	A	AT	indel	intronic	 	 	 	 	ERMP1	Ermp1	ENSG00000099219	endoplasmic reticulum metallopeptidase 1	chr9:5765076-5833117		Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe	Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip.		GO:0006508;proteolysis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERMP1	https://www.uniprot.org/uniprot/Q7Z2K6		https://www.ncbi.nlm.nih.gov/omim/?term=611156	http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1	rs35748220	0.42512	0.2951	0.4209	1	0	0	intronic	intronic	intronic	ERMP1	ERMP1	ENSG00000099219	Na	Na	Na	Na	Na	Na	Het;+T	194;13|11	Hom;+T	500;0|19
N	N	-	9	5823725	5823725	G	A	snp	intronic	 	 	 	 	ERMP1	Ermp1	ENSG00000099219	endoplasmic reticulum metallopeptidase 1	chr9:5765076-5833117		Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe	Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip.		GO:0006508;proteolysis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERMP1	https://www.uniprot.org/uniprot/Q7Z2K6		https://www.ncbi.nlm.nih.gov/omim/?term=611156	http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1	rs7046500	0.383187	0	0	1	0	0	intronic	intronic	intronic	ERMP1	ERMP1	ENSG00000099219	Na	Na	Na	Na	Na	Na	Het;G>A	146;3|6	Hom;G>A	206;0|8
N	N	-	9	5824954	5824954	A	C	snp	intronic	 	 	 	 	ERMP1	Ermp1	ENSG00000099219	endoplasmic reticulum metallopeptidase 1	chr9:5765076-5833117		Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe	Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip.		GO:0006508;proteolysis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERMP1	https://www.uniprot.org/uniprot/Q7Z2K6		https://www.ncbi.nlm.nih.gov/omim/?term=611156	http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1	rs2275777	0.393371	0	0	1	0	0	intronic	intronic	intronic	ERMP1	ERMP1	ENSG00000099219	Na	Na	Na	Na	Na	Na	Het;A>C	101;4|4	Hom;A>C	254;0|7
N	N	-	9	5832728	5832728	G	C	snp	synonymous SNV	C300G	A100A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ERMP1	Ermp1	ENSG00000099219	endoplasmic reticulum metallopeptidase 1	chr9:5765076-5833117		Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe	Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip.		GO:0006508;proteolysis;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERMP1	https://www.uniprot.org/uniprot/Q7Z2K6		https://www.ncbi.nlm.nih.gov/omim/?term=611156	http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1	rs1131727	0.403554	0	0.4951	1	0	0	exonic	exonic	exonic	ERMP1	ERMP1	ENSG00000099219	synonymous SNV	synonymous SNV	unknown	ERMP1:NM_024896:exon1:c.C300G:p.A100A,	ERMP1:uc003zjm.1:exon1:c.C300G:p.A100A,ERMP1:uc003zjn.1:exon1:c.C300G:p.A100A,	UNKNOWN	Het;G>C	279;10|15	Hom;G>C	671;0|26
N	N	-	9	5923326	5923326	C	T	snp	intronic	 	 	 	 	KIAA2026	9930021J03Rik	ENSG00000183354	KIAA2026	chr9:5881596-6007901		Respiratory Function Tests	 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA2026				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA2026&submit=Quick%0D%14977ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA2026	rs7045445	0.508387	0.6166	0.6407	1	0	0	intronic	intronic	intronic	KIAA2026	KIAA2026	ENSG00000183354	Na	Na	Na	Na	Na	Na	Het;C>T	457;49|24	Hom;C>T	1744;0|63
N	N	-	9	5969249	5969249	A	G	snp	synonymous SNV	T982C	L328L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KIAA2026	9930021J03Rik	ENSG00000183354	KIAA2026	chr9:5881596-6007901		Respiratory Function Tests	 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA2026				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA2026&submit=Quick%0D%14977ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA2026	rs10739080	0.509585	0.6157	0.6314	1	0	0	exonic	exonic	exonic	KIAA2026	KIAA2026	ENSG00000183354	synonymous SNV	synonymous SNV	unknown	KIAA2026:NM_001017969:exon3:c.T982C:p.L328L,	KIAA2026:uc003zjq.4:exon3:c.T982C:p.L328L,	UNKNOWN	Het;A>G	1937;44|79	Hom;A>G	4175;0|144
N	N	-	9	6007500	6007500	G	A	snp	synonymous SNV	C288T	G96G	aliphatic,neutral	aliphatic,neutral	KIAA2026	9930021J03Rik	ENSG00000183354	KIAA2026	chr9:5881596-6007901		Respiratory Function Tests	 					http://www.genecards.org/index.php?path=/Search/keyword/KIAA2026				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA2026&submit=Quick%0D%14977ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA2026	rs1061767	0.170727	0.1703	0.2007	1	0	0	exonic	exonic	exonic	KIAA2026	KIAA2026	ENSG00000183354	synonymous SNV	synonymous SNV	unknown	KIAA2026:NM_001017969:exon1:c.C288T:p.G96G,	KIAA2026:uc003zjq.4:exon1:c.C288T:p.G96G,	UNKNOWN	Het;G>A	867;59|42	Hom;G>A	3118;0|110
N	N	-	9	65525527	65525527	A	C	snp	intergenic	 	 	 	 	ENSG00000234734																		Na	0	0	0	1	0	0	intergenic	intergenic	intergenic	SPATA31A5(dist=15917),LINC01410(dist=931762)	SPATA31A5(dist=15917),AL953854.2-002(dist=121754)	ENSG00000234734(dist=15917),ENSG00000237792(dist=60165)	Na	Na	Na	Na	Na	Na	Het;A>C	502;40|27	Hom;A>C	438;0|16
N	N	-	9	6587054	6587054	A	T	snp	intronic	 	 	 	 	GLDC	Gldc	ENSG00000178445	glycine decarboxylase	chr9:6532464-6645650	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]	Erythrocyte Count; Acquired Immunodeficiency Syndrome|Disease Progression; hyperglycinemia, nonketotic; Hemoglobins	Hypomorphic mutants show a developmental delay, hyperglycinemia, altered folate profiles, neural tube defects and postnatal lethality, while survivors show hydrocephaly and premature death. Homozygotes for an ENU allele show omphalocele and severe cardiovascular, craniofacial, renal and eye defects.	Glycine degradation	GO:0006520;cellular amino acid metabolic process;IEA|GO:0006544;glycine metabolic process;IEA|GO:0006546;glycine catabolic process;IDA|GO:0019464;glycine decarboxylation via glycine cleavage system;IEA|GO:0036255;response to methylamine;ISS|GO:0055114;oxidation-reduction process;IEA|GO:1903442;response to lipoic acid;ISS	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005886;plasma membrane;IDA|GO:0005960;glycine cleavage complex;IEA	GO:0003824;catalytic activity;IEA|GO:0004375;glycine dehydrogenase (decarboxylating) activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016594;glycine binding;IEA|GO:0016829;lyase activity;IEA|GO:0019899;enzyme binding;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0046983;protein dimerization activity;IEA|GO:0070280;pyridoxal binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/GLDC		https://hpo.jax.org/app/browse/search?q=GLDC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=238300	http://www.informatics.jax.org/searchtool/Search.do?query=GLDC&submit=Quick%0D%14186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLDC	rs968197	0.446885	0	0	1	0	0	intronic	intronic	intronic	GLDC	GLDC	ENSG00000178445	Na	Na	Na	Na	Na	Na	Het;A>T	341;19|17	Hom;A>T	653;0|21
N	N	-	9	6639395	6639395	C	CT	indel	ncRNA_exonic	 	 	 	 	RPL23AP57																		rs59912052	0.697883	0	0	1	0	0	intronic	intronic	ncRNA_exonic	GLDC	GLDC	ENSG00000206147	Na	Na	Na	Na	Na	Na	Het;+T	141;3|5	Hom;+T	165;0|5
N	N	-	9	66458719	66458719	C	T	snp	ncRNA_intronic	 	 	 	 	CR627148																		rs80174745	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01410	CR627148	ENSG00000238113	Na	Na	Na	Na	Na	Na	Het;C>T	109;2|4	Hom;C>T	278;0|8
N	N	-	9	66467605	66467605	A	C	snp	ncRNA_intronic	 	 	 	 	CR627148																		rs2252128	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LINC01410	CR627148	ENSG00000238113	Na	Na	Na	Na	Na	Na	Het;A>C	299;4|9	Hom;A>C	107;0|3
N	N	-	9	68408546	68408546	A	G	snp	ncRNA_intronic	 	 	 	 	CR786580.1																		rs199711011	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ANKRD20A3(dist=438253),MIR4477A(dist=6762)	ANKRD20A3(dist=438253),AK308561(dist=1452)	ENSG00000225411	Na	Na	Na	Na	Na	Na	Het;A>G	347;1|9	Hom;A>G	737;0|16
N	N	-	9	68408627	68408627	A	G	snp	ncRNA_intronic	 	 	 	 	CR786580.1																		rs139980666	0	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	ANKRD20A3(dist=438334),MIR4477A(dist=6681)	ANKRD20A3(dist=438334),AK308561(dist=1371)	ENSG00000225411	Na	Na	Na	Na	Na	Na	Het;A>G	455;7|12	Hom;A>G	1277;0|28
N	N	-	9	68414199	68414199	C	T	snp	ncRNA_exonic	 	 	 	 	BC080605																		rs4928848	0	0	0	1	0	0	intergenic	ncRNA_exonic	upstream	ANKRD20A3(dist=443906),MIR4477A(dist=1109)	BC080605	ENSG00000232815	Na	Na	Na	Na	Na	Na	Het;C>T	162;2|6	Hom;C>T	512;0|12
N	N	-	9	68429344	68429344	T	C	snp	ncRNA_intronic	 	 	 	 	LOC642236																		rs62543300	0	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC642236	LOC642236	ENSG00000215548	Na	Na	Na	Na	Na	Na	Het;T>C	482;6|14	Hom;T>C	707;0|17
N	N	-	9	68433346	68433346	C	T	snp	ncRNA_intronic	 	 	 	 	LOC642236																		rs62543347	0.339457	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC642236	LOC642236	ENSG00000215548	Na	Na	Na	Na	Na	Na	Het;C>T	3991;31|115	Hom;C>T	6120;3|174
N	N	-	9	712060	712060	G	C	snp	nonsynonymous SNV	G1294C	E432Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	KANK1	Kank1	ENSG00000107104	KN motif and ankyrin repeat domains 1	chr9:470291-746105	The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]	multiple sclerosis; Asthma; Multiple Sclerosis; Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030837;negative regulation of actin filament polymerization;IDA|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0090303;positive regulation of wound healing;IMP|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:1900028;negative regulation of ruffle assembly;IDA|GO:2000114;regulation of establishment of cell polarity;IMP|GO:2000393;negative regulation of lamellipodium morphogenesis;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KANK1	https://www.uniprot.org/uniprot/Q14678	https://hpo.jax.org/app/browse/search?q=KANK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607704	http://www.informatics.jax.org/searchtool/Search.do?query=KANK1&submit=Quick%0D%3576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK1	rs4465020	0.235224	0.2880	0.3392	0.23	3	13	exonic	exonic	exonic	KANK1	KANK1	ENSG00000107104	nonsynonymous SNV	nonsynonymous SNV	unknown	KANK1:NM_001256876:exon7:c.G1294C:p.E432Q,KANK1:NM_001256877:exon4:c.G1294C:p.E432Q,KANK1:NM_015158:exon3:c.G1294C:p.E432Q,KANK1:NM_153186:exon2:c.G820C:p.E274Q,	KANK1:uc003zgs.2:exon2:c.G820C:p.E274Q,KANK1:uc003zgr.1:exon2:c.G820C:p.E274Q,KANK1:uc003zgp.1:exon4:c.G1294C:p.E432Q,KANK1:uc003zgq.2:exon2:c.G820C:p.E274Q,KANK1:uc003zgl.2:exon7:c.G1294C:p.E432Q,KANK1:uc003zgo.1:exon3:c.G1294C:p.E432Q,KANK1:uc003zgn.2:exon3:c.G1294C:p.E432Q,KANK1:uc031tct.1:exon4:c.G1294C:p.E432Q,KANK1:uc003zgm.4:exon3:c.G1294C:p.E432Q,	UNKNOWN	Het;G>C	1331;82|62	Hom;G>C	3241;2|108
N	N	-	9	712599	712599	C	T	snp	synonymous SNV	C1359T	N453N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KANK1	Kank1	ENSG00000107104	KN motif and ankyrin repeat domains 1	chr9:470291-746105	The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]	multiple sclerosis; Asthma; Multiple Sclerosis; Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030837;negative regulation of actin filament polymerization;IDA|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0090303;positive regulation of wound healing;IMP|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:1900028;negative regulation of ruffle assembly;IDA|GO:2000114;regulation of establishment of cell polarity;IMP|GO:2000393;negative regulation of lamellipodium morphogenesis;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KANK1	https://www.uniprot.org/uniprot/Q14678	https://hpo.jax.org/app/browse/search?q=KANK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607704	http://www.informatics.jax.org/searchtool/Search.do?query=KANK1&submit=Quick%0D%3576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK1	rs11789987	0.252995	0.3125	0.3486	1	0	0	exonic	exonic	exonic	KANK1	KANK1	ENSG00000107104	synonymous SNV	synonymous SNV	unknown	KANK1:NM_001256876:exon7:c.C1833T:p.N611N,KANK1:NM_001256877:exon4:c.C1833T:p.N611N,KANK1:NM_015158:exon3:c.C1833T:p.N611N,KANK1:NM_153186:exon2:c.C1359T:p.N453N,	KANK1:uc003zgs.2:exon2:c.C1359T:p.N453N,KANK1:uc003zgr.1:exon2:c.C1359T:p.N453N,KANK1:uc003zgp.1:exon4:c.C1833T:p.N611N,KANK1:uc003zgq.2:exon2:c.C1359T:p.N453N,KANK1:uc003zgl.2:exon7:c.C1833T:p.N611N,KANK1:uc003zgo.1:exon3:c.C1833T:p.N611N,KANK1:uc003zgn.2:exon3:c.C1833T:p.N611N,KANK1:uc031tct.1:exon4:c.C1833T:p.N611N,KANK1:uc003zgm.4:exon3:c.C1833T:p.N611N,	UNKNOWN	Het;C>T	1711;82|84	Hom;C>T	3547;0|130
N	N	-	9	71555492	71555492	A	G	snp	intronic	 	 	 	 	PIP5K1B	Pip5k1b	ENSG00000107242	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	chr9:71320575-71624092		Kidney Diseases; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Asthma; Heart Rate; schizophrenia	Mice homozygous for a knock-out allele exhibit enhanced passive cutaneous and systemic anaphylaxis.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA	GO:0001931;uropod;IDA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052810;1-phosphatidylinositol-5-kinase activity;TAS|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1B	https://www.uniprot.org/uniprot/O14986		https://www.ncbi.nlm.nih.gov/omim/?term=602745	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1B&submit=Quick%0D%3590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1B	rs10746973	0.729633	0	0	1	0	0	intronic	intronic	intronic	PIP5K1B	PIP5K1B	ENSG00000107242	Na	Na	Na	Na	Na	Na	Het;A>G	537;31|24	Hom;A>G	1846;0|66
N	N	-	9	71555522	71555522	C	T	snp	intronic	 	 	 	 	PIP5K1B	Pip5k1b	ENSG00000107242	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	chr9:71320575-71624092		Kidney Diseases; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Asthma; Heart Rate; schizophrenia	Mice homozygous for a knock-out allele exhibit enhanced passive cutaneous and systemic anaphylaxis.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA	GO:0001931;uropod;IDA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052810;1-phosphatidylinositol-5-kinase activity;TAS|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1B	https://www.uniprot.org/uniprot/O14986		https://www.ncbi.nlm.nih.gov/omim/?term=602745	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1B&submit=Quick%0D%3590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1B	rs10746974	0.707668	0.7687	0.8017	1	0	0	intronic	intronic	intronic	PIP5K1B	PIP5K1B	ENSG00000107242	Na	Na	Na	Na	Na	Na	Het;C>T	990;52|47	Hom;C>T	3110;0|114
N	N	-	9	71606315	71606315	G	A	snp	intronic	 	 	 	 	PIP5K1B	Pip5k1b	ENSG00000107242	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	chr9:71320575-71624092		Kidney Diseases; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Asthma; Heart Rate; schizophrenia	Mice homozygous for a knock-out allele exhibit enhanced passive cutaneous and systemic anaphylaxis.	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA	GO:0001931;uropod;IDA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052810;1-phosphatidylinositol-5-kinase activity;TAS|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1B	https://www.uniprot.org/uniprot/O14986		https://www.ncbi.nlm.nih.gov/omim/?term=602745	http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1B&submit=Quick%0D%3590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1B	rs2297231	0.411342	0	0	1	0	0	intronic	intronic	intronic	PIP5K1B	PIP5K1B	ENSG00000107242	Na	Na	Na	Na	Na	Na	Het;G>A	362;5|13	Hom;G>A	364;0|11
N	N	-	9	7170006	7170006	G	A	snp	nonsynonymous SNV	G3110A	S1037N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KDM4C	Kdm4c	ENSG00000107077	lysine demethylase 4C	chr9:6720863-7175648	This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Myocardial Infarction; Blood Pressure; Lipoproteins; Carcinoma, Squamous Cell|Esophageal Neoplasms; Body Composition; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Heart Failure; Schizophrenia; Body Mass Index; Heart Rate; Tobacco Use Disorder; Response to radiation; autism; Triglycerides; Bone Density	Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA.	Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3	GO:0001825;blastocyst formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA|GO:2000736;regulation of stem cell differentiation;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA	GO:0003682;chromatin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032452;histone demethylase activity;EXP|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IPI|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KDM4C	https://www.uniprot.org/uniprot/Q9H3R0		https://www.ncbi.nlm.nih.gov/omim/?term=605469	http://www.informatics.jax.org/searchtool/Search.do?query=KDM4C&submit=Quick%0D%3574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4C	rs7022348	0.133187	0.2102	0.2083	0.18	2	11	exonic	exonic	exonic	KDM4C	KDM4C	ENSG00000107077	nonsynonymous SNV	nonsynonymous SNV	unknown	KDM4C:NM_001146694:exon21:c.G3110A:p.S1037N,	KDM4C:uc003zkg.3:exon21:c.G3110A:p.S1037N,	UNKNOWN	Het;G>A	120;4|5	Hom;G>A	109;0|4
N	N	-	9	71752185	71752187	CTT	C	indel	intronic	 	 	 	 	TJP2	Tjp2	ENSG00000119139	tight junction protein 2	chr9:71736209-71870124	This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Cholesterol; Cholesterol, LDL; Obesity	Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.	Apoptotic cleavage of cell adhesion  proteins	GO:0010033;response to organic substance;IEA|GO:0035329;hippo signaling;TAS|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0050892;intestinal absorption;IMP|GO:0071847;TNFSF11-mediated signaling pathway;IEA|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:0090559;regulation of membrane permeability;IMP|GO:2001205;negative regulation of osteoclast development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0070160;occluding junction;IEA	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019904;protein domain specific binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP2	https://www.uniprot.org/uniprot/Q9UDY2	https://hpo.jax.org/app/browse/search?q=TJP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607709	http://www.informatics.jax.org/searchtool/Search.do?query=TJP2&submit=Quick%0D%5036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP2	rs373311468	0	0	0	1	0	0	intronic	intronic	intronic	TJP2	TJP2	ENSG00000119139	Na	Na	Na	Na	Na	Na	Het;-TT	899;23|22	Hom;-TT	184;0|5
N	N	-	9	71854737	71854741	TAAAC	T	indel	intronic	 	 	 	 	TJP2	Tjp2	ENSG00000119139	tight junction protein 2	chr9:71736209-71870124	This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Cholesterol; Cholesterol, LDL; Obesity	Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.	Apoptotic cleavage of cell adhesion  proteins	GO:0010033;response to organic substance;IEA|GO:0035329;hippo signaling;TAS|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0050892;intestinal absorption;IMP|GO:0071847;TNFSF11-mediated signaling pathway;IEA|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:0090559;regulation of membrane permeability;IMP|GO:2001205;negative regulation of osteoclast development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0070160;occluding junction;IEA	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019904;protein domain specific binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP2	https://www.uniprot.org/uniprot/Q9UDY2	https://hpo.jax.org/app/browse/search?q=TJP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607709	http://www.informatics.jax.org/searchtool/Search.do?query=TJP2&submit=Quick%0D%5036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP2	rs141823769	0.66254	0	0	1	0	0	intronic	intronic	intronic	TJP2	TJP2	ENSG00000119139	Na	Na	Na	Na	Na	Na	Het;-AAAC	74;5|3	Hom;-AAAC	198;0|6
N	N	-	9	71854769	71854769	C	G	snp	intronic	 	 	 	 	TJP2	Tjp2	ENSG00000119139	tight junction protein 2	chr9:71736209-71870124	This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Cholesterol; Cholesterol, LDL; Obesity	Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.	Apoptotic cleavage of cell adhesion  proteins	GO:0010033;response to organic substance;IEA|GO:0035329;hippo signaling;TAS|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0050892;intestinal absorption;IMP|GO:0071847;TNFSF11-mediated signaling pathway;IEA|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:0090559;regulation of membrane permeability;IMP|GO:2001205;negative regulation of osteoclast development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0070160;occluding junction;IEA	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019904;protein domain specific binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP2	https://www.uniprot.org/uniprot/Q9UDY2	https://hpo.jax.org/app/browse/search?q=TJP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607709	http://www.informatics.jax.org/searchtool/Search.do?query=TJP2&submit=Quick%0D%5036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP2	rs2993823	0.665335	0	0	1	0	0	intronic	intronic	intronic	TJP2	TJP2	ENSG00000119139	Na	Na	Na	Na	Na	Na	Het;C>G	84;14|5	Hom;C>G	504;0|17
N	N	-	9	71855122	71855122	G	A	snp	intronic	 	 	 	 	TJP2	Tjp2	ENSG00000119139	tight junction protein 2	chr9:71736209-71870124	This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]	Cholesterol; Cholesterol, LDL; Obesity	Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.	Apoptotic cleavage of cell adhesion  proteins	GO:0010033;response to organic substance;IEA|GO:0035329;hippo signaling;TAS|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0050892;intestinal absorption;IMP|GO:0071847;TNFSF11-mediated signaling pathway;IEA|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:0090559;regulation of membrane permeability;IMP|GO:2001205;negative regulation of osteoclast development;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005912;adherens junction;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0070160;occluding junction;IEA	GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019904;protein domain specific binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TJP2	https://www.uniprot.org/uniprot/Q9UDY2	https://hpo.jax.org/app/browse/search?q=TJP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607709	http://www.informatics.jax.org/searchtool/Search.do?query=TJP2&submit=Quick%0D%5036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP2	rs7035000	0.720048	0	0	1	0	0	intronic	intronic	intronic	TJP2	TJP2	ENSG00000119139	Na	Na	Na	Na	Na	Na	Het;G>A	260;13|12	Hom;G>A	603;0|23
N	N	-	9	71911684	71911684	T	G	snp	ncRNA_exonic	 	 	 	 	BANCR																		rs10249	0.883586	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intergenic	BANCR	BANCR	ENSG00000119139(dist=41560),ENSG00000135063(dist=27804)	Na	Na	Na	Na	Na	Na	Het;T>G	1288;59|62	Hom;T>G	2210;0|83
N	N	-	9	72338180	72338180	T	C	snp	intronic	 	 	 	 	PTAR1	Ptar1	ENSG00000188647	protein prenyltransferase alpha subunit repeat containing 1	chr9:72324438-72374875		Leukocyte Count	 		GO:0018342;protein prenylation;IEA		GO:0004659;prenyltransferase activity;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTAR1				http://www.informatics.jax.org/searchtool/Search.do?query=PTAR1&submit=Quick%0D%16076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTAR1	rs11139996	0.873003	0	0	1	0	0	intronic	intronic	intronic	PTAR1	PTAR1	ENSG00000188647	Na	Na	Na	Na	Na	Na	Het;T>C	79;1|3	Hom;T>C	189;0|7
N	N	-	9	72472746	72472747	TA	T	indel	intronic	 	 	 	 	C9orf135	1700028P14Rik	ENSG00000204711	chromosome 9 open reading frame 135	chr9:72435709-72521148		Memory; Erythrocytes	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/C9orf135				http://www.informatics.jax.org/searchtool/Search.do?query=C9orf135&submit=Quick%0D%17393ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf135	rs35585376	0.607428	0	0	1	0	0	intronic	intronic	intronic	C9orf135	C9orf135	ENSG00000204711	Na	Na	Na	Na	Na	Na	Het;-A	252;1|9	Hom;-A	248;0|8
N	N	-	9	73213610	73213610	A	G	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs4744605	0.803315	0.7832	0.7882	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;A>G	596;41|27	Hom;A>G	1558;0|52
N	N	-	9	73213644	73213644	A	C	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs4744606	0.749601	0	0	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;A>C	327;20|14	Hom;A>C	752;0|25
N	N	-	9	73225802	73225802	T	G	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs3763619	0.454273	0	0	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;T>G	266;4|10	Hom;T>G	274;1|10
N	N	-	9	73296400	73296400	C	T	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs10123161	0.339457	0.3027	0.3447	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;C>T	312;16|15	Hom;C>T	875;0|33
N	N	-	9	73442724	73442724	C	T	snp	UTR3	*31G>A	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs1034538	0.766174	0.8230	0.7620	1	0	0	intronic	UTR3	intronic	TRPM3	TRPM3(uc004aii.3:c.*31G>A)	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;C>T	692;17|29	Hom;C>T	1657;0|52
N	N	-	9	73457832	73457832	G	A	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs1337031	0.520567	0	0	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;G>A	264;12|11	Hom;G>A	684;0|24
N	N	-	9	73457861	73457861	A	G	snp	UTR3	*28T>C	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs1337030	0.520567	0	0.5568	1	0	0	intronic	intronic	UTR3	TRPM3	TRPM3	ENSG00000083067(ENST00000377097:c.*28T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	437;18|16	Hom;A>G	1395;0|43
N	N	-	9	73461337	73461337	T	A	snp	synonymous SNV	A174T	A58A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs7862440	0.520567	0.5799	0.5531	1	0	0	exonic	exonic	exonic	TRPM3	TRPM3	ENSG00000083067	synonymous SNV	synonymous SNV	unknown	TRPM3:NM_024971:exon4:c.A174T:p.A58A,TRPM3:NM_206946:exon4:c.A174T:p.A58A,TRPM3:NM_206947:exon4:c.A174T:p.A58A,TRPM3:NM_206945:exon4:c.A174T:p.A58A,TRPM3:NM_020952:exon4:c.A174T:p.A58A,TRPM3:NM_001007471:exon4:c.A633T:p.A211A,TRPM3:NM_206948:exon4:c.A174T:p.A58A,TRPM3:NM_001007470:exon4:c.A174T:p.A58A,TRPM3:NM_206944:exon4:c.A174T:p.A58A,	TRPM3:uc004ahy.3:exon4:c.A174T:p.A58A,TRPM3:uc004aig.3:exon4:c.A174T:p.A58A,TRPM3:uc004aie.3:exon4:c.A174T:p.A58A,TRPM3:uc004aic.3:exon4:c.A633T:p.A211A,TRPM3:uc004ahz.3:exon4:c.A174T:p.A58A,TRPM3:uc004ahv.3:exon1:c.A123T:p.A41A,TRPM3:uc004aif.3:exon4:c.A174T:p.A58A,TRPM3:uc004ahw.3:exon4:c.A174T:p.A58A,TRPM3:uc004aia.3:exon4:c.A174T:p.A58A,TRPM3:uc004aii.3:exon4:c.A639T:p.A213A,TRPM3:uc004aib.3:exon4:c.A174T:p.A58A,TRPM3:uc004ahu.3:exon1:c.A123T:p.A41A,TRPM3:uc010mor.3:exon4:c.A633T:p.A211A,TRPM3:uc004ahx.3:exon4:c.A174T:p.A58A,TRPM3:uc004aid.3:exon4:c.A633T:p.A211A,	UNKNOWN	Het;T>A	1644;87|81	Hom;T>A	3151;0|117
N	N	-	9	73461558	73461558	G	C	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs10868907	0.520767	0.5796	0.5556	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;G>C	508;9|17	Hom;G>C	840;0|29
N	N	-	9	73479213	73479213	C	T	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs10780981	0.308107	0	0	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;C>T	182;1|6	Hom;C>T	393;0|11
N	N	-	9	73579361	73579361	T	C	snp	intronic	 	 	 	 	TRPM3	Trpm3	ENSG00000083067	transient receptor potential cation channel subfamily M member 3	chr9:73143979-74061820	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Erythrocytes; Longevity; Myocardial Infarction; Lipoproteins, LDL; Carotid Artery Diseases; Parietal Lobe; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Angiography; Body Weight; E-Selectin; Apolipoproteins B; Cholesterol, HDL; Stroke; Celiac Disease|; Body Height; Echocardiography	Mice homozygous for a null mutation display impaired thermal and chemical nociception.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051262;protein tetramerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071482;cellular response to light stimulus;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPM3	https://www.uniprot.org/uniprot/Q9HCF6		https://www.ncbi.nlm.nih.gov/omim/?term=608961	http://www.informatics.jax.org/searchtool/Search.do?query=TRPM3&submit=Quick%0D%1816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPM3	rs35806768	0.187899	0	0	1	0	0	intronic	intronic	intronic	TRPM3	TRPM3	ENSG00000083067	Na	Na	Na	Na	Na	Na	Het;T>C	221;10|10	Hom;T>C	626;0|21
N	N	-	9	738238	738238	G	A	snp	intronic	 	 	 	 	KANK1	Kank1	ENSG00000107104	KN motif and ankyrin repeat domains 1	chr9:470291-746105	The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]	multiple sclerosis; Asthma; Multiple Sclerosis; Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030837;negative regulation of actin filament polymerization;IDA|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0090303;positive regulation of wound healing;IMP|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:1900028;negative regulation of ruffle assembly;IDA|GO:2000114;regulation of establishment of cell polarity;IMP|GO:2000393;negative regulation of lamellipodium morphogenesis;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KANK1	https://www.uniprot.org/uniprot/Q14678	https://hpo.jax.org/app/browse/search?q=KANK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607704	http://www.informatics.jax.org/searchtool/Search.do?query=KANK1&submit=Quick%0D%3576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK1	rs2296052	0.609625	0.6697	0.5990	1	0	0	intronic	intronic	intronic	KANK1	KANK1	ENSG00000107104	Na	Na	Na	Na	Na	Na	Het;G>A	264;16|12	Hom;G>A	819;0|27
N	N	-	9	74627442	74627443	GC	G	indel	intergenic	 	 	 	 	HSPB1P1																		rs398096416	0.380791	0	0	1	0	0	intergenic	intergenic	intergenic	C9orf85(dist=39071),C9orf57(dist=38854)	NONE(dist=NONE),C9orf57(dist=38854)	ENSG00000236060(dist=4390),ENSG00000204669(dist=38849)	Na	Na	Na	Na	Na	Na	Het;-C	448;58|21	Hom;-C	1613;0|48
N	N	-	9	75524784	75524784	G	T	snp	intronic	 	 	 	 	ALDH1A1	Aldh1a1	ENSG00000165092	aldehyde dehydrogenase 1 family member A1	chr9:75515578-75695358	The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]	alcohol abuse; smoking behavior; breast cancer ; Pulse; null; alcohol abuse; Neoplasms; schizophrenia; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; alcohol consumption; Cleft Lip|Cleft Palate; alcoholism; Neuroblastoma; Alcoholism; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; Breath Tests; alcohol; Tobacco Use Disorder; cyclophosphamide pharmacokinetics	Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver.  Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina.	Ethanol oxidation	GO:0001523;retinoid metabolic process;ISS|GO:0006069;ethanol oxidation;TAS|GO:0006081;cellular aldehyde metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0042572;retinol metabolic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061624;fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;TAS	GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001758;retinal dehydrogenase activity;TAS|GO:0004029;aldehyde dehydrogenase (NAD) activity;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005497;androgen binding;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0018479;benzaldehyde dehydrogenase (NAD+) activity;IBA|GO:0051287;NAD binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A1			https://www.ncbi.nlm.nih.gov/omim/?term=100640	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A1&submit=Quick%0D%11464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A1	rs63319	0.538538	0	0	1	0	0	intronic	intronic	intronic	ALDH1A1	ALDH1A1	ENSG00000165092	Na	Na	Na	Na	Na	Na	Het;G>T	54;7|3	Hom;G>T	399;0|12
N	N	-	9	77163442	77163442	T	C	snp	ncRNA_intronic	 	 	 	 	MIR6130																		rs11144005	0.330272	0	0	1	0	0	ncRNA_intronic	intronic	intronic	MIR6130	RORB	ENSG00000198963	Na	Na	Na	Na	Na	Na	Het;T>C	340;26|18	Hom;T>C	805;0|29
N	N	-	9	77599756	77599756	T	C	snp	ncRNA_intronic	 	 	 	 	BC043649																		rs57537935	0.11861	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	C9orf41-AS1	BC043649	ENSG00000203321	Na	Na	Na	Na	Na	Na	Het;T>C	536;17|21	Hom;T>C	1474;0|52
N	N	-	9	77606725	77606725	T	C	snp	ncRNA_intronic	 	 	 	 	BC043649																		rs35035829	0.115216	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	C9orf41-AS1	BC043649	ENSG00000203321	Na	Na	Na	Na	Na	Na	Het;T>C	286;11|10	Hom;T>C	1025;0|25
N	N	-	9	77610868	77610868	A	T	snp	ncRNA_intronic	 	 	 	 	BC043649																		rs7041655	0.283946	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	C9orf41-AS1	BC043649	ENSG00000203321	Na	Na	Na	Na	Na	Na	Het;A>T	36;7|4	Hom;A>T	419;0|15
N	N	-	9	77611653	77611653	T	C	snp	ncRNA_exonic	 	 	 	 	C9orf41-AS1																		rs13284839	0.115216	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	intronic	C9orf41-AS1	BC043649	ENSG00000156017	Na	Na	Na	Na	Na	Na	Het;T>C	892;44|40	Hom;T>C	2423;0|77
N	N	-	9	77811760	77811760	G	C	snp	intergenic	 	 	 	 	Y_RNA																		rs7026151	0.129393	0	0	1	0	0	intergenic	intergenic	intergenic	OSTF1(dist=49646),MIR548H3(dist=306752)	OSTF1(dist=49646),MIR548H3(dist=306752)	ENSG00000200041(dist=15223),ENSG00000212316(dist=1227)	Na	Na	Na	Na	Na	Na	Het;G>C	231;13|13	Hom;G>C	1255;0|48
N	N	-	9	77859192	77859192	C	T	snp	intergenic	 	 	 	 	RNU6-1228P																		rs10114055	0.410543	0	0	1	0	0	intergenic	intergenic	intergenic	OSTF1(dist=97078),MIR548H3(dist=259320)	OSTF1(dist=97078),MIR548H3(dist=259320)	ENSG00000212316(dist=46099),ENSG00000235707(dist=157613)	Na	Na	Na	Na	Na	Na	Het;C>T	45;11|4	Hom;C>T	186;0|6
N	N	-	9	78168633	78168633	T	C	snp	ncRNA_intronic	 	 	 	 	MIR548H3																		rs10869585	0.188299	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	MIR548H3	MIR548H3	ENSG00000235707(dist=150725),ENSG00000236376(dist=25952)	Na	Na	Na	Na	Na	Na	Het;T>C	79;3|3	Hom;T>C	247;0|7
N	N	-	9	78371410	78371410	A	C	snp	intergenic	 	 	 	 	OTX2P1																		rs528408	0.704673	0	0	1	0	0	intergenic	intergenic	intergenic	MIR548H3(dist=32666),PCSK5(dist=134150)	MIR548H3(dist=32666),PCSK5(dist=134150)	ENSG00000234644(dist=31919),ENSG00000099139(dist=134150)	Na	Na	Na	Na	Na	Na	Het;A>C	377;22|18	Hom;A>C	1684;0|63
N	N	-	9	78371589	78371589	A	G	snp	intergenic	 	 	 	 	OTX2P1																		rs526615	0.685503	0	0	1	0	0	intergenic	intergenic	intergenic	MIR548H3(dist=32845),PCSK5(dist=133971)	MIR548H3(dist=32845),PCSK5(dist=133971)	ENSG00000234644(dist=32098),ENSG00000099139(dist=133971)	Na	Na	Na	Na	Na	Na	Het;A>G	103;4|4	Hom;A>G	453;0|14
N	N	-	9	7848919	7848919	G	A	snp	intergenic	 	 	 	 	NONE																		rs7048874	0.764377	0	0	1	0	0	intergenic	intergenic	intergenic	TMEM261(dist=49120),PTPRD(dist=465327)	C9orf123(dist=49120),PTPRD(dist=465327)	NONE(dist=NONE),NONE(dist=NONE)	Na	Na	Na	Na	Na	Na	Het;G>A	80;7|4	Hom;G>A	251;0|8
N	N	-	9	78790153	78790153	A	AATGG	indel	frameshift substitution	2008_2008delinsAATGG	 	 	 	PCSK5	Pcsk5	ENSG00000099139	proprotein convertase subtilisin/kexin type 5	chr9:78505560-78977255	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]	null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis	Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5.  Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.	Assembly of active LPL and LIPC lipase complexes	GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PCSK5	https://www.uniprot.org/uniprot/Q92824		https://www.ncbi.nlm.nih.gov/omim/?term=600488	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5	rs781082708	0	0	0.0070	1	0	0	intronic	exonic	exonic	PCSK5	PCSK5	ENSG00000099139	Na	frameshift substitution	unknown	Na	PCSK5:uc004ajy.2:exon14:c.2008_2008delinsAATGG,	UNKNOWN	Het;+ATGG	60;2|3	Hom;+ATGG	242;1|8
N	N	-	9	78796522	78796522	A	G	snp	intronic	 	 	 	 	PCSK5	Pcsk5	ENSG00000099139	proprotein convertase subtilisin/kexin type 5	chr9:78505560-78977255	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]	null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis	Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5.  Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.	Assembly of active LPL and LIPC lipase complexes	GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PCSK5	https://www.uniprot.org/uniprot/Q92824		https://www.ncbi.nlm.nih.gov/omim/?term=600488	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5	rs2270570	0.150759	0.1847	0.1965	1	0	0	intronic	intronic	intronic	PCSK5	PCSK5	ENSG00000099139	Na	Na	Na	Na	Na	Na	Het;A>G	335;32|18	Hom;A>G	1614;0|57
N	N	-	9	78808493	78808493	T	C	snp	UTR3	*225T>C	 	 	 	PCSK5	Pcsk5	ENSG00000099139	proprotein convertase subtilisin/kexin type 5	chr9:78505560-78977255	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]	null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis	Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5.  Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.	Assembly of active LPL and LIPC lipase complexes	GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PCSK5	https://www.uniprot.org/uniprot/Q92824		https://www.ncbi.nlm.nih.gov/omim/?term=600488	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5	rs10869729	0.0880591	0	0	1	0	0	UTR3	intronic	UTR3	PCSK5(NM_006200:c.*225T>C)	PCSK5	ENSG00000099139(ENST00000376752:c.*225T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	2211;76|94	Hom;T>C	4443;0|149
N	N	-	9	78810157	78810157	G	C	snp	UTR3	*1889G>C	 	 	 	PCSK5	Pcsk5	ENSG00000099139	proprotein convertase subtilisin/kexin type 5	chr9:78505560-78977255	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]	null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis	Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5.  Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.	Assembly of active LPL and LIPC lipase complexes	GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PCSK5	https://www.uniprot.org/uniprot/Q92824		https://www.ncbi.nlm.nih.gov/omim/?term=600488	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5	rs17720593	0.0856629	0	0	1	0	0	UTR3	intronic	UTR3	PCSK5(NM_006200:c.*1889G>C)	PCSK5	ENSG00000099139(ENST00000376752:c.*1889G>C)	Na	Na	Na	Na	Na	Na	Het;G>C	1530;90|70	Hom;G>C	3897;0|137
N	N	-	9	78842380	78842380	A	G	snp	intronic	 	 	 	 	PCSK5	Pcsk5	ENSG00000099139	proprotein convertase subtilisin/kexin type 5	chr9:78505560-78977255	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]	null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis	Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5.  Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.	Assembly of active LPL and LIPC lipase complexes	GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PCSK5	https://www.uniprot.org/uniprot/Q92824		https://www.ncbi.nlm.nih.gov/omim/?term=600488	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5	rs1390141	0.388578	0.4384	0.4834	1	0	0	intronic	intronic	intronic	PCSK5	PCSK5	ENSG00000099139	Na	Na	Na	Na	Na	Na	Het;A>G	612;38|30	Hom;A>G	1934;2|76
N	N	-	9	78848542	78848542	C	G	snp	intronic	 	 	 	 	PCSK5	Pcsk5	ENSG00000099139	proprotein convertase subtilisin/kexin type 5	chr9:78505560-78977255	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]	null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis	Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5.  Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.	Assembly of active LPL and LIPC lipase complexes	GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PCSK5	https://www.uniprot.org/uniprot/Q92824		https://www.ncbi.nlm.nih.gov/omim/?term=600488	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5	rs903545	0.952476	0.9482	0.9612	1	0	0	intronic	intronic	intronic	PCSK5	PCSK5	ENSG00000099139	Na	Na	Na	Na	Na	Na	Het;C>G	1539;91|73	Hom;C>G	3960;2|147
N	N	-	9	78969059	78969059	C	A	snp	nonsynonymous SNV	C5097A	D1699E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PCSK5	Pcsk5	ENSG00000099139	proprotein convertase subtilisin/kexin type 5	chr9:78505560-78977255	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]	null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis	Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5.  Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.	Assembly of active LPL and LIPC lipase complexes	GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS	GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PCSK5	https://www.uniprot.org/uniprot/Q92824		https://www.ncbi.nlm.nih.gov/omim/?term=600488	http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5	rs7036921	0.232029	0	0.3334	0.09	1	11	exonic	exonic	exonic	PCSK5	PCSK5	ENSG00000099139	nonsynonymous SNV	nonsynonymous SNV	unknown	PCSK5:NM_001190482:exon36:c.C5097A:p.D1699E,	PCSK5:uc004akc.2:exon36:c.C5097A:p.D1699E,	UNKNOWN	Het;C>A	2256;136|110	Hom;C>A	5862;0|214
N	N	-	9	793324	793324	A	T	snp	intergenic	 	 	 	 	KANK1	Kank1	ENSG00000107104	KN motif and ankyrin repeat domains 1	chr9:470291-746105	The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]	multiple sclerosis; Asthma; Multiple Sclerosis; Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030837;negative regulation of actin filament polymerization;IDA|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0090303;positive regulation of wound healing;IMP|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:1900028;negative regulation of ruffle assembly;IDA|GO:2000114;regulation of establishment of cell polarity;IMP|GO:2000393;negative regulation of lamellipodium morphogenesis;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KANK1	https://www.uniprot.org/uniprot/Q14678	https://hpo.jax.org/app/browse/search?q=KANK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607704	http://www.informatics.jax.org/searchtool/Search.do?query=KANK1&submit=Quick%0D%3576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK1	rs6477243	0.666134	0	0	1	0	0	intergenic	intergenic	intergenic	KANK1(dist=47218),DMRT1(dist=48366)	KANK1(dist=47218),DMRT1(dist=48366)	ENSG00000107104(dist=47219),ENSG00000137090(dist=48366)	Na	Na	Na	Na	Na	Na	Het;A>T	1445;26|37	Hom;A>T	2316;0|53
N	N	-	9	79888396	79888396	A	G	snp	intronic	 	 	 	 	VPS13A	Vps13a	ENSG00000197969	vacuolar protein sorting 13 homolog A	chr9:79792269-80036457	The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]	Hemoglobin A, Glycosylated; Tobacco Use Disorder	Homozygous null mice show motor dysfunction, altered social interaction, hematologic defects including acanthocytosis, striatum atrophy with significant apoptosis and gliosis, lower midbrain homovanillic acid levels, and male sterility with asthenozoospermia and sperm mitochondrial sheath anomalies.		GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;NAS|GO:0006914;autophagy;IMP|GO:0007399;nervous system development;IEA|GO:0007626;locomotory behavior;IEA|GO:0008104;protein localization;NAS|GO:0015031;protein transport;IEA|GO:0035176;social behavior;IEA	GO:0005622;intracellular;NAS|GO:0005829;cytosol;IEA|GO:0031045;dense core granule;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VPS13A		https://hpo.jax.org/app/browse/search?q=VPS13A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605978	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13A&submit=Quick%0D%16771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13A	rs2050831	0.891773	0	0	1	0	0	intronic	intronic	intronic	VPS13A	VPS13A	ENSG00000197969	Na	Na	Na	Na	Na	Na	Het;A>G	151;2|5	Hom;A>G	254;0|7
N	N	-	9	80032300	80032300	C	A	snp	UTR3	*1378C>A	 	 	 	VPS13A	Vps13a	ENSG00000197969	vacuolar protein sorting 13 homolog A	chr9:79792269-80036457	The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]	Hemoglobin A, Glycosylated; Tobacco Use Disorder	Homozygous null mice show motor dysfunction, altered social interaction, hematologic defects including acanthocytosis, striatum atrophy with significant apoptosis and gliosis, lower midbrain homovanillic acid levels, and male sterility with asthenozoospermia and sperm mitochondrial sheath anomalies.		GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;NAS|GO:0006914;autophagy;IMP|GO:0007399;nervous system development;IEA|GO:0007626;locomotory behavior;IEA|GO:0008104;protein localization;NAS|GO:0015031;protein transport;IEA|GO:0035176;social behavior;IEA	GO:0005622;intracellular;NAS|GO:0005829;cytosol;IEA|GO:0031045;dense core granule;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VPS13A		https://hpo.jax.org/app/browse/search?q=VPS13A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605978	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13A&submit=Quick%0D%16771ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13A	rs13286867	0.249401	0	0	1	0	0	UTR3	UTR3	UTR3	VPS13A(NM_001018037:c.*1378C>A,NM_033305:c.*1378C>A)	VPS13A(uc004akr.3:c.*1378C>A,uc004aks.3:c.*1378C>A)	ENSG00000197969(ENST00000360280:c.*1378C>A,ENST00000376636:c.*1378C>A,ENST00000376646:c.*1378C>A)	Na	Na	Na	Na	Na	Na	Het;C>A	705;70|38	Hom;C>A	1723;0|66
N	N	-	9	80044056	80044056	G	A	snp	intronic	 	 	 	 	GNA14	Gna14	ENSG00000156049	G protein subunit alpha 14	chr9:80037995-80263223	This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]	null; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder	 	Thrombin signalling through proteinase activated receptors (PARs)	GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA|GO:0030168;platelet activation;TAS|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA	GO:0005834;heterotrimeric G-protein complex;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;NAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNA14	https://www.uniprot.org/uniprot/O95837	https://hpo.jax.org/app/browse/search?q=GNA14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604397	http://www.informatics.jax.org/searchtool/Search.do?query=GNA14&submit=Quick%0D%9934ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNA14	rs2296781	0.395966	0	0	1	0	0	intronic	intronic	intronic	GNA14	GNA14	ENSG00000156049	Na	Na	Na	Na	Na	Na	Het;G>A	399;13|17	Hom;G>A	901;1|34
N	N	-	9	80834173	80834173	A	G	snp	ncRNA_exonic	 	 	 	 	AL353705.4																		rs878922	0.671725	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	GNAQ(dist=187808),CEP78(dist=16818)	GNAQ(dist=187954),CEP78(dist=16818)	ENSG00000234819	Na	Na	Na	Na	Na	Na	Het;A>G	131;12|8	Hom;A>G	920;0|37
N	N	-	9	82267732	82267732	C	G	snp	intronic	 	 	 	 	TLE4	Tle4	ENSG00000106829	transducin like enhancer of split 4	chr9:82186688-82341658		Electrocardiography; Body Height; Menopause; Asthma (childhood onset); Bipolar Disorder; Cholesterol, LDL; obesity|asthma; Waist-Hip Ratio; Phosphorus; Waist Circumference; Asthma|; Apolipoprotein A-I	Mice homozygous for a knock-out allele are runted and die around 4 weeks of age with  leukocytopenia, B cell lymphopenia, reduced bone mineralization and reduced hematopoietic stem cell number and function.	Repression of WNT target genes	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND|GO:0016055;Wnt signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0070491;repressing transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLE4	https://www.uniprot.org/uniprot/Q04727		https://www.ncbi.nlm.nih.gov/omim/?term=605132	http://www.informatics.jax.org/searchtool/Search.do?query=TLE4&submit=Quick%0D%3558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE4	rs2297499	0.549521	0.5164	0.6198	1	0	0	intronic	intronic	intronic	TLE4	TLE4	ENSG00000106829	Na	Na	Na	Na	Na	Na	Het;C>G	918;48|37	Hom;C>G	2000;0|65
N	N	-	9	82286286	82286286	C	G	snp	intronic	 	 	 	 	TLE4	Tle4	ENSG00000106829	transducin like enhancer of split 4	chr9:82186688-82341658		Electrocardiography; Body Height; Menopause; Asthma (childhood onset); Bipolar Disorder; Cholesterol, LDL; obesity|asthma; Waist-Hip Ratio; Phosphorus; Waist Circumference; Asthma|; Apolipoprotein A-I	Mice homozygous for a knock-out allele are runted and die around 4 weeks of age with  leukocytopenia, B cell lymphopenia, reduced bone mineralization and reduced hematopoietic stem cell number and function.	Repression of WNT target genes	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND|GO:0016055;Wnt signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0070491;repressing transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLE4	https://www.uniprot.org/uniprot/Q04727		https://www.ncbi.nlm.nih.gov/omim/?term=605132	http://www.informatics.jax.org/searchtool/Search.do?query=TLE4&submit=Quick%0D%3558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE4	rs1475674	0.542931	0	0.6467	1	0	0	intronic	intronic	intronic	TLE4	TLE4	ENSG00000106829	Na	Na	Na	Na	Na	Na	Het;C>G	574;36|28	Hom;C>G	1625;0|59
N	N	-	9	82286352	82286352	G	A	snp	intronic	 	 	 	 	TLE4	Tle4	ENSG00000106829	transducin like enhancer of split 4	chr9:82186688-82341658		Electrocardiography; Body Height; Menopause; Asthma (childhood onset); Bipolar Disorder; Cholesterol, LDL; obesity|asthma; Waist-Hip Ratio; Phosphorus; Waist Circumference; Asthma|; Apolipoprotein A-I	Mice homozygous for a knock-out allele are runted and die around 4 weeks of age with  leukocytopenia, B cell lymphopenia, reduced bone mineralization and reduced hematopoietic stem cell number and function.	Repression of WNT target genes	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND|GO:0016055;Wnt signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0070491;repressing transcription factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLE4	https://www.uniprot.org/uniprot/Q04727		https://www.ncbi.nlm.nih.gov/omim/?term=605132	http://www.informatics.jax.org/searchtool/Search.do?query=TLE4&submit=Quick%0D%3558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE4	rs2297498	0.542931	0	0	1	0	0	intronic	intronic	intronic	TLE4	TLE4	ENSG00000106829	Na	Na	Na	Na	Na	Na	Het;G>A	277;11|13	Hom;G>A	749;0|25
N	N	-	9	83299401	83299401	T	G	snp	intergenic	 	 	 	 	MTND2P9																		rs4515629	0.682308	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01507(dist=649931),TLE1(dist=899197)	DQ591664(dist=326250),TLE1(dist=899197)	ENSG00000225901(dist=118524),ENSG00000221581(dist=49756)	Na	Na	Na	Na	Na	Na	Het;T>G	37;4|2	Hom;T>G	114;0|5
N	N	-	9	83299551	83299551	A	G	snp	intergenic	 	 	 	 	MTND2P9																		rs10780450	0.682708	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01507(dist=650081),TLE1(dist=899047)	DQ591664(dist=326400),TLE1(dist=899047)	ENSG00000225901(dist=118674),ENSG00000221581(dist=49606)	Na	Na	Na	Na	Na	Na	Het;A>G	908;59|27	Hom;A>G	2247;2|53
N	N	-	9	83299566	83299566	C	T	snp	intergenic	 	 	 	 	MTND2P9																		rs7466844	0.682708	0	0	1	0	0	intergenic	intergenic	intergenic	LINC01507(dist=650096),TLE1(dist=899032)	DQ591664(dist=326415),TLE1(dist=899032)	ENSG00000225901(dist=118689),ENSG00000221581(dist=49591)	Na	Na	Na	Na	Na	Na	Het;C>T	928;54|27	Hom;C>T	2272;2|54
N	N	-	9	841825	841825	C	T	snp	UTR5	-14C>T	 	 	 	DMRT1	Dmrt1	ENSG00000137090	doublesex and mab-3 related transcription factor 1	chr9:841690-969090	This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Prostatic Neoplasms; Testicular Neoplasms; Germinoma; Hemoglobins; Cardiovascular Diseases; Neoplasms, Germ Cell and Embryonal|Neoplasms, Testis|Testicular Neoplasms	Males homozygous for null mutations are sterile and exhibit a complete loss of germ cells between postnatal days 7-14, disorganized seminiferous tubules, and degeneration of Leydig cells. Females are normal and fertile.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0002176;male germ cell proliferation;IEA|GO:0003006;developmental process involved in reproduction;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007548;sex differentiation;IEA|GO:0008354;germ cell migration;IEA|GO:0008584;male gonad development;IEA|GO:0030154;cell differentiation;IEA|GO:0030238;male sex determination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0045835;negative regulation of meiotic nuclear division;IEA|GO:0045840;positive regulation of mitotic nuclear division;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046661;male sex differentiation;IEA|GO:0048599;oocyte development;IEA|GO:0060008;Sertoli cell differentiation;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060903;positive regulation of meiosis I;IEA|GO:1900107;regulation of nodal signaling pathway;IEA|GO:2000020;positive regulation of male gonad development;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DMRT1	https://www.uniprot.org/uniprot/Q9Y5R6	https://hpo.jax.org/app/browse/search?q=DMRT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602424	http://www.informatics.jax.org/searchtool/Search.do?query=DMRT1&submit=Quick%0D%7471ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DMRT1	rs3739584	0.22524	0.1289	0.2592	1	0	0	UTR5	UTR5	UTR5	DMRT1(NM_021951:c.-14C>T)	DMRT1(uc003zgu.1:c.-14C>T,uc003zgv.3:c.-14C>T)	ENSG00000137090(ENST00000382276:c.-14C>T)	Na	Na	Na	Na	Na	Na	Het;C>T	428;35|21	Hom;C>T	1682;0|63
N	N	-	9	84564152	84564152	C	T	snp	ncRNA_exonic	 	 	 	 	SPATA31D3	Spata31d1a	ENSG00000186788	SPATA31 subfamily D member 3	chr9:84558474-84565009			 		GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SPATA31D3				http://www.informatics.jax.org/searchtool/Search.do?query=SPATA31D3&submit=Quick%0D%15705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA31D3	rs641486	0.915535	0	0	1	0	0	UTR3	ncRNA_intronic	ncRNA_exonic	SPATA31D3(NM_207416:c.*1230C>T)	AK097447	ENSG00000186788	Na	Na	Na	Na	Na	Na	Het;C>T	764;45|39	Hom;C>T	1878;0|69
N	N	-	9	86238086	86238086	T	C	snp	UTR5	-1T>C	 	 	 	IDNK	Idnk	ENSG00000148057	IDNK, gluconokinase	chr9:86237964-86259045		Hypertension	Female mice homozygous for a targeted mutation exhibit impaired learning/memory during trace aversive conditioning, and both males and females show decreased tear production.		GO:0005975;carbohydrate metabolic process;IEA|GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA|GO:0046177;D-gluconate catabolic process;IEA		GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046316;gluconokinase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDNK	https://www.uniprot.org/uniprot/Q5T6J7		https://www.ncbi.nlm.nih.gov/omim/?term=611343	http://www.informatics.jax.org/searchtool/Search.do?query=IDNK&submit=Quick%0D%9068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDNK	rs2811903	0.857628	0	0.8016	1	0	0	UTR5	UTR5	UTR5	IDNK(NM_001256915:c.-5759T>C,NM_001001551:c.-1T>C)	IDNK(uc004amu.3:c.-1T>C,uc031tef.1:c.-5759T>C,uc010mpv.3:c.-5759T>C)	ENSG00000148057(ENST00000533522:c.-1T>C,ENST00000277124:c.-5759T>C,ENST00000530832:c.-5759T>C,ENST00000405990:c.-1T>C,ENST00000376419:c.-1T>C,ENST00000376417:c.-1T>C)	Na	Na	Na	Na	Na	Na	Het;T>C	99;27|8	Hom;T>C	1240;0|48
N	N	-	9	86243933	86243933	G	T	snp	intronic	 	 	 	 	IDNK	Idnk	ENSG00000148057	IDNK, gluconokinase	chr9:86237964-86259045		Hypertension	Female mice homozygous for a targeted mutation exhibit impaired learning/memory during trace aversive conditioning, and both males and females show decreased tear production.		GO:0005975;carbohydrate metabolic process;IEA|GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA|GO:0046177;D-gluconate catabolic process;IEA		GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046316;gluconokinase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDNK	https://www.uniprot.org/uniprot/Q5T6J7		https://www.ncbi.nlm.nih.gov/omim/?term=611343	http://www.informatics.jax.org/searchtool/Search.do?query=IDNK&submit=Quick%0D%9068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDNK	rs2811905	0.857428	0.7992	0	1	0	0	intronic	intronic	intronic	IDNK	IDNK	ENSG00000148057	Na	Na	Na	Na	Na	Na	Het;G>T	385;20|19	Hom;G>T	1855;0|67
N	N	-	9	86256431	86256431	T	A	snp	intronic	 	 	 	 	IDNK	Idnk	ENSG00000148057	IDNK, gluconokinase	chr9:86237964-86259045		Hypertension	Female mice homozygous for a targeted mutation exhibit impaired learning/memory during trace aversive conditioning, and both males and females show decreased tear production.		GO:0005975;carbohydrate metabolic process;IEA|GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA|GO:0046177;D-gluconate catabolic process;IEA		GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046316;gluconokinase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDNK	https://www.uniprot.org/uniprot/Q5T6J7		https://www.ncbi.nlm.nih.gov/omim/?term=611343	http://www.informatics.jax.org/searchtool/Search.do?query=IDNK&submit=Quick%0D%9068ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDNK	rs2811917	0.463858	0.5829	0.4656	1	0	0	intronic	intronic	intronic	IDNK	IDNK	ENSG00000148057	Na	Na	Na	Na	Na	Na	Het;T>A	104;15|7	Hom;T>A	668;0|27
N	N	-	9	86278773	86278773	T	C	snp	intronic	 	 	 	 	UBQLN1	Ubqln1	ENSG00000135018	ubiquilin 1	chr9:86274878-86323118	This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hypertension; Alzheimer's Disease; Alzheimer's disease; Alzheimer's disease|Parkinson's disease; Alzheimer's disease ; Tobacco Use Disorder	Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury.	Cargo recognition for clathrin-mediated endocytosis	GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0016236;macroautophagy;IMP|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0031396;regulation of protein ubiquitination;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0034140;negative regulation of toll-like receptor 3 signaling pathway;IEA|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0035973;aggrephagy;IDA|GO:0071456;cellular response to hypoxia;IMP|GO:0097352;autophagosome maturation;IMP|GO:1901340;negative regulation of store-operated calcium channel activity;IMP|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IMP|GO:0005776;autophagosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031593;polyubiquitin binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBQLN1	https://www.uniprot.org/uniprot/Q9UMX0		https://www.ncbi.nlm.nih.gov/omim/?term=605046	http://www.informatics.jax.org/searchtool/Search.do?query=UBQLN1&submit=Quick%0D%7069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBQLN1	rs9314722	0.177915	0.2254	0.1875	1	0	0	intronic	intronic	intronic	UBQLN1	UBQLN1	ENSG00000135018	Na	Na	Na	Na	Na	Na	Het;T>C	379;9|16	Hom;T>C	1004;0|38
N	N	-	9	86279015	86279015	C	T	snp	intronic	 	 	 	 	UBQLN1	Ubqln1	ENSG00000135018	ubiquilin 1	chr9:86274878-86323118	This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hypertension; Alzheimer's Disease; Alzheimer's disease; Alzheimer's disease|Parkinson's disease; Alzheimer's disease ; Tobacco Use Disorder	Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury.	Cargo recognition for clathrin-mediated endocytosis	GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0016236;macroautophagy;IMP|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0031396;regulation of protein ubiquitination;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0034140;negative regulation of toll-like receptor 3 signaling pathway;IEA|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0035973;aggrephagy;IDA|GO:0071456;cellular response to hypoxia;IMP|GO:0097352;autophagosome maturation;IMP|GO:1901340;negative regulation of store-operated calcium channel activity;IMP|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IMP|GO:0005776;autophagosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031593;polyubiquitin binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBQLN1	https://www.uniprot.org/uniprot/Q9UMX0		https://www.ncbi.nlm.nih.gov/omim/?term=605046	http://www.informatics.jax.org/searchtool/Search.do?query=UBQLN1&submit=Quick%0D%7069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBQLN1	rs2781003	0.76897	0	0	1	0	0	intronic	intronic	intronic	UBQLN1	UBQLN1	ENSG00000135018	Na	Na	Na	Na	Na	Na	Het;C>T	110;11|6	Hom;C>T	996;0|25
N	N	-	9	86281195	86281195	A	G	snp	intronic	 	 	 	 	UBQLN1	Ubqln1	ENSG00000135018	ubiquilin 1	chr9:86274878-86323118	This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hypertension; Alzheimer's Disease; Alzheimer's disease; Alzheimer's disease|Parkinson's disease; Alzheimer's disease ; Tobacco Use Disorder	Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury.	Cargo recognition for clathrin-mediated endocytosis	GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0016236;macroautophagy;IMP|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0031396;regulation of protein ubiquitination;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0034140;negative regulation of toll-like receptor 3 signaling pathway;IEA|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0035973;aggrephagy;IDA|GO:0071456;cellular response to hypoxia;IMP|GO:0097352;autophagosome maturation;IMP|GO:1901340;negative regulation of store-operated calcium channel activity;IMP|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IMP|GO:0005776;autophagosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031593;polyubiquitin binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBQLN1	https://www.uniprot.org/uniprot/Q9UMX0		https://www.ncbi.nlm.nih.gov/omim/?term=605046	http://www.informatics.jax.org/searchtool/Search.do?query=UBQLN1&submit=Quick%0D%7069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBQLN1	rs12344615	0.167133	0	0	1	0	0	intronic	intronic	intronic	UBQLN1	UBQLN1	ENSG00000135018	Na	Na	Na	Na	Na	Na	Het;A>G	125;8|6	Hom;A>G	733;0|22
N	N	-	9	86284178	86284178	C	A	snp	synonymous SNV	G1170T	L390L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	UBQLN1	Ubqln1	ENSG00000135018	ubiquilin 1	chr9:86274878-86323118	This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Hypertension; Alzheimer's Disease; Alzheimer's disease; Alzheimer's disease|Parkinson's disease; Alzheimer's disease ; Tobacco Use Disorder	Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury.	Cargo recognition for clathrin-mediated endocytosis	GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0016236;macroautophagy;IMP|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0031396;regulation of protein ubiquitination;IDA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0034140;negative regulation of toll-like receptor 3 signaling pathway;IEA|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0035973;aggrephagy;IDA|GO:0071456;cellular response to hypoxia;IMP|GO:0097352;autophagosome maturation;IMP|GO:1901340;negative regulation of store-operated calcium channel activity;IMP|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1903071;positive regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP	GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IMP|GO:0005776;autophagosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031593;polyubiquitin binding;IDA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/UBQLN1	https://www.uniprot.org/uniprot/Q9UMX0		https://www.ncbi.nlm.nih.gov/omim/?term=605046	http://www.informatics.jax.org/searchtool/Search.do?query=UBQLN1&submit=Quick%0D%7069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBQLN1	rs1044175	0.76897	0.6967	0.6887	1	0	0	exonic	exonic	exonic	UBQLN1	UBQLN1	ENSG00000135018	synonymous SNV	synonymous SNV	unknown	UBQLN1:NM_013438:exon7:c.G1170T:p.L390L,UBQLN1:NM_053067:exon7:c.G1170T:p.L390L,	UBQLN1:uc004amv.3:exon7:c.G1170T:p.L390L,UBQLN1:uc004amw.3:exon7:c.G1170T:p.L390L,	UNKNOWN	Het;C>A	1503;51|73	Hom;C>A	3251;0|124
N	N	-	9	86457387	86457387	G	GT	indel	ncRNA_intronic	 	 	 	 	AL354733.2																		rs398011242	0.359026	0	0	1	0	0	intronic	intronic	ncRNA_intronic	KIF27	KIF27	ENSG00000231616	Na	Na	Na	Na	Na	Na	Het;+T	81;3|6	Hom;+T	383;0|14
N	N	-	9	86504005	86504005	C	T	snp	nonsynonymous SNV	G1973A	G658E	aliphatic,neutral	polar,hydrophilic,charged(-)	KIF27	Kif27	ENSG00000165115	kinesin family member 27	chr9:86451613-86536342	This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]		Homozygous mice are small and die by 8 weeks and exhibit hydrocephalus, rhinitis and otitis media.	Kinesins	GO:0003351;epithelial cilium movement;IEA|GO:0007018;microtubule-based movement;IBA|GO:0021591;ventricular system development;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF27			https://www.ncbi.nlm.nih.gov/omim/?term=611253	http://www.informatics.jax.org/searchtool/Search.do?query=KIF27&submit=Quick%0D%11469ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF27	rs13289566	0.17472	0.2285	0.2007	0.08	1	13	exonic	exonic	exonic	KIF27	KIF27	ENSG00000165115	nonsynonymous SNV	nonsynonymous SNV	unknown	KIF27:NM_001271927:exon7:c.G1973A:p.G658E,KIF27:NM_001271928:exon7:c.G1973A:p.G658E,KIF27:NM_017576:exon7:c.G1973A:p.G658E,	KIF27:uc010mpw.4:exon7:c.G1973A:p.G658E,KIF27:uc010mpx.4:exon7:c.G1973A:p.G658E,KIF27:uc004ana.4:exon7:c.G1973A:p.G658E,	UNKNOWN	Het;C>T	477;49|25	Hom;C>T	1744;2|66
N	N	-	9	86696749	86696749	G	A	snp	ncRNA_intronic	 	 	 	 	BX537783																		rs10868094	0.470447	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927575	BX537783	ENSG00000227463	Na	Na	Na	Na	Na	Na	Het;G>A	172;3|6	Hom;G>A	205;0|6
N	N	-	9	86697358	86697358	A	T	snp	ncRNA_intronic	 	 	 	 	BX537783																		rs59003190	0.345647	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	ncRNA_intronic	LOC101927575	BX537783	ENSG00000227463	Na	Na	Na	Na	Na	Na	Het;A>T	326;13|16	Hom;A>T	913;0|33
N	N	-	9	86697578	86697578	G	C	snp	ncRNA_exonic	 	 	 	 	LOC101927575																		rs12236416	0.364217	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927575	BX537783	ENSG00000227463	Na	Na	Na	Na	Na	Na	Het;G>C	1413;97|68	Hom;G>C	4550;0|166
N	N	-	9	86699171	86699172	CT	C	indel	ncRNA_exonic	 	 	 	 	LOC101927575																		rs11323521	0.578075	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	LOC101927575	BX537783	ENSG00000227463	Na	Na	Na	Na	Na	Na	Het;-T	2287;85|69	Hom;-T	5778;0|146
N	N	-	9	86925655	86925655	T	C	snp	intronic	 	 	 	 	SLC28A3	Slc28a3	ENSG00000197506	solute carrier family 28 member 3	chr9:86890372-86955672	Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; pancreatic cancer; Cholesterol, LDL; Cholesterol, HDL; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell	 	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane	GO:0015855;pyrimidine nucleobase transport;IEA|GO:0015860;purine nucleoside transmembrane transport;IEA|GO:0015864;pyrimidine nucleoside transport;IEA|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1901642;nucleoside transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005337;nucleoside transmembrane transporter activity;IEA|GO:0005415;nucleoside:sodium symporter activity;TAS|GO:0015389;pyrimidine- and adenine-specific:sodium symporter activity;IEA|GO:0015390;purine-specific nucleoside:sodium symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC28A3			https://www.ncbi.nlm.nih.gov/omim/?term=608269	http://www.informatics.jax.org/searchtool/Search.do?query=SLC28A3&submit=Quick%0D%16645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC28A3	rs9792674	0.553714	0	0	1	0	0	intronic	intronic	intronic	SLC28A3	SLC28A3	ENSG00000197506	Na	Na	Na	Na	Na	Na	Het;T>C	61;3|3	Hom;T>C	235;0|8
N	N	-	9	86947357	86947357	T	C	snp	intronic	 	 	 	 	SLC28A3	Slc28a3	ENSG00000197506	solute carrier family 28 member 3	chr9:86890372-86955672	Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder; pancreatic cancer; Cholesterol, LDL; Cholesterol, HDL; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell	 	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane	GO:0015855;pyrimidine nucleobase transport;IEA|GO:0015860;purine nucleoside transmembrane transport;IEA|GO:0015864;pyrimidine nucleoside transport;IEA|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1901642;nucleoside transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005337;nucleoside transmembrane transporter activity;IEA|GO:0005415;nucleoside:sodium symporter activity;TAS|GO:0015389;pyrimidine- and adenine-specific:sodium symporter activity;IEA|GO:0015390;purine-specific nucleoside:sodium symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC28A3			https://www.ncbi.nlm.nih.gov/omim/?term=608269	http://www.informatics.jax.org/searchtool/Search.do?query=SLC28A3&submit=Quick%0D%16645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC28A3	rs1972245	0.785343	0	0	1	0	0	intronic	intronic	intronic	SLC28A3	SLC28A3	ENSG00000197506	Na	Na	Na	Na	Na	Na	Het;T>C	777;17|37	Hom;T>C	1626;0|59
N	N	-	9	89971639	89971639	C	A	snp	intergenic	 	 	 	 	SNORA26																		rs4878067	0.575479	0	0	1	0	0	intergenic	intergenic	intergenic	C9orf170(dist=196998),DAPK1(dist=140504)	BC093087(dist=91229),DAPK1(dist=141019)	ENSG00000212421(dist=96139),ENSG00000228373(dist=66910)	Na	Na	Na	Na	Na	Na	Het;C>A	196;3|8	Hom;C>A	90;0|4
N	N	-	9	90220180	90220180	G	A	snp	intronic	 	 	 	 	DAPK1	Dapk1	ENSG00000196730	death associated protein kinase 1	chr9:90112143-90323548	Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	smoking cessation; colorectal cancer; Narcolepsy; Alzheimer's disease; Alzheimer's disease ; breast cancer ; pediatric lymphoma; Tobacco Use Disorder	Mice homozygous for a knock-out allele show decreased sensitivity to ER stress-induced cell death and reduced tunicamycin-induced kidney damage. Mice homozygous for a gene trapped allele show decreased infarct size and neuronal death with improved neurological scores after ischemic brain injury.	Ligand-independent caspase activation via DCC	GO:0006417;regulation of translation;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IGI|GO:0007165;signal transduction;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:0010506;regulation of autophagy;TAS|GO:0010508;positive regulation of autophagy;IMP|GO:0016310;phosphorylation;IEA|GO:0017148;negative regulation of translation;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0042981;regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0071346;cellular response to interferon-gamma;IDA|GO:0071447;cellular response to hydroperoxide;IMP|GO:0097190;apoptotic signaling pathway;IMP|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:2000310;regulation of NMDA receptor activity;ISS	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004683;calmodulin-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017075;syntaxin-1 binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DAPK1			https://www.ncbi.nlm.nih.gov/omim/?term=600831	http://www.informatics.jax.org/searchtool/Search.do?query=DAPK1&submit=Quick%0D%16450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DAPK1	rs13288504	0.145966	0	0	1	0	0	intronic	intronic	intronic	DAPK1	DAPK1	ENSG00000196730	Na	Na	Na	Na	Na	Na	Het;G>A	159;6|6	Hom;G>A	224;0|7
N	N	-	9	90387296	90387296	T	G	snp	upstream	 	 	 	 	CTSL3P																		rs7037401	0.741613	0	0	1	0	0	upstream	upstream	upstream	CTSL3P	CTSL3P	ENSG00000188029	Na	Na	Na	Na	Na	Na	Het;T>G	56;1|4	Hom;T>G	201;0|8
N	N	-	9	90387805	90387805	A	C	snp	ncRNA_exonic	 	 	 	 	CTSL3P																		rs9410955	0.741214	0.7009	0.7115	1	0	0	upstream	upstream	ncRNA_exonic	CTSL3P	CTSL3P	ENSG00000188029	Na	Na	Na	Na	Na	Na	Het;A>C	381;8|14	Hom;A>C	1167;0|34
N	N	-	9	90388539	90388539	T	A	snp	nonsynonymous SNV	T399A	N133K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	CTSL3P																		rs10735592	0.735024	0.6953	0.7098	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	CTSL3P	CTSL3P	ENSG00000188029	Na	nonsynonymous SNV	Na	Na	CTSL3P:uc004apm.1:exon3:c.T399A:p.N133K,	Na	Het;T>A	638;40|31	Hom;T>A	1196;0|45
N	N	-	9	90728813	90728813	G	A	snp	intergenic	 	 	 	 	AL353572.1																		rs148541114	0.013778	0	0	1	0	0	intergenic	intergenic	intergenic	CDK20(dist=139118),SPATA31C2(dist=15407)	CDK20(dist=139118),DQ590442(dist=12875)	ENSG00000225385(dist=45861),ENSG00000177910(dist=15407)	Na	Na	Na	Na	Na	Na	Het;G>A	47;4|4	Hom;G>A	91;0|4
N	N	-	9	90796014	90796017	CTTG	C	indel	ncRNA_exonic	 	 	 	 	AL451142.1																		rs144124999	0.34365	0	0	1	0	0	intergenic	intergenic	ncRNA_exonic	SPATA31C2(dist=46114),SPIN1(dist=207280)	SPATA31C2(dist=46114),SPIN1(dist=206823)	ENSG00000204429	Na	Na	Na	Na	Na	Na	Het;-TTG	425;22|19	Hom;-TTG	1527;0|35
N	N	-	9	91262296	91262296	G	A	snp	ncRNA_exonic	 	 	 	 	AL592486.1																		rs4543636	0.452276	0.5119	0.4121	1	0	0	UTR3	UTR3	ncRNA_exonic	LOC286238(NM_001100111:c.*8C>T)	LOC286238(uc010mql.1:c.*8C>T)	ENSG00000228189	Na	Na	Na	Na	Na	Na	Het;G>A	636;37|29	Hom;G>A	1744;0|64
N	N	-	9	91262343	91262343	A	ATGG	indel	nonframeshift substitution	300_300delinsCCAT	 	 	 	LOC286238																		rs397759669	0.451877	0.5071	0.4038	1	0	0	exonic	exonic	ncRNA_exonic	LOC286238	LOC286238	ENSG00000228189	nonframeshift substitution	nonframeshift substitution	Na	LOC286238:NM_001100111:exon2:c.300_300delinsCCAT,	LOC286238:uc010mql.1:exon2:c.300_300delinsCCAT,	Na	Het;+TGG	2329;65|61	Hom;+TGG	4762;0|104
N	N	-	9	91262597	91262597	A	G	snp	ncRNA_intronic	 	 	 	 	AL592486.1																		rs7862585	0.510982	0.5773	0.4443	1	0	0	intronic	intronic	ncRNA_intronic	LOC286238	LOC286238	ENSG00000228189	Na	Na	Na	Na	Na	Na	Het;A>G	515;31|23	Hom;A>G	1120;0|37
N	N	-	9	91653287	91653287	G	C	snp	intronic	 	 	 	 	SHC3	Shc3	ENSG00000148082	SHC adaptor protein 3	chr9:91628060-91793682		nicotine; Alcoholism; Tobacco Use Disorder	Mice homozygous for disruptions in this gene display a normal phenotype.	RET signaling	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;TAS|GO:0007611;learning or memory;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA	GO:0001784;phosphotyrosine binding;IPI|GO:0004871;signal transducer activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SHC3	https://www.uniprot.org/uniprot/Q92529		https://www.ncbi.nlm.nih.gov/omim/?term=605263	http://www.informatics.jax.org/searchtool/Search.do?query=SHC3&submit=Quick%0D%9069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC3	rs944481	0	0	0	1	0	0	intronic	intronic	intronic	SHC3	SHC3	ENSG00000148082	Na	Na	Na	Na	Na	Na	Het;G>C	117;4|6	Hom;G>C	263;0|9
N	N	-	9	91656963	91656963	T	C	snp	synonymous SNV	A1338G	P446P	hydrophobic,neutral	hydrophobic,neutral	SHC3	Shc3	ENSG00000148082	SHC adaptor protein 3	chr9:91628060-91793682		nicotine; Alcoholism; Tobacco Use Disorder	Mice homozygous for disruptions in this gene display a normal phenotype.	RET signaling	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;TAS|GO:0007611;learning or memory;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA	GO:0001784;phosphotyrosine binding;IPI|GO:0004871;signal transducer activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SHC3	https://www.uniprot.org/uniprot/Q92529		https://www.ncbi.nlm.nih.gov/omim/?term=605263	http://www.informatics.jax.org/searchtool/Search.do?query=SHC3&submit=Quick%0D%9069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC3	rs3750399	0.791534	0.6968	0.7082	1	0	0	exonic	exonic	exonic	SHC3	SHC3	ENSG00000148082	synonymous SNV	synonymous SNV	unknown	SHC3:NM_016848:exon10:c.A1338G:p.P446P,	SHC3:uc004aqf.2:exon10:c.A1338G:p.P446P,	UNKNOWN	Het;T>C	1671;50|72	Hom;T>C	3188;0|114
N	N	-	9	91667136	91667136	C	T	snp	intronic	 	 	 	 	SHC3	Shc3	ENSG00000148082	SHC adaptor protein 3	chr9:91628060-91793682		nicotine; Alcoholism; Tobacco Use Disorder	Mice homozygous for disruptions in this gene display a normal phenotype.	RET signaling	GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;TAS|GO:0007611;learning or memory;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IBA	GO:0001784;phosphotyrosine binding;IPI|GO:0004871;signal transducer activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SHC3	https://www.uniprot.org/uniprot/Q92529		https://www.ncbi.nlm.nih.gov/omim/?term=605263	http://www.informatics.jax.org/searchtool/Search.do?query=SHC3&submit=Quick%0D%9069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC3	rs7025214	0.755791	0	0	1	0	0	intronic	intronic	intronic	SHC3	SHC3	ENSG00000148082	Na	Na	Na	Na	Na	Na	Het;C>T	413;10|18	Hom;C>T	1123;0|36
N	N	-	9	92003679	92003679	C	T	snp	nonsynonymous SNV	G979A	A327T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SEMA4D	Sema4d	ENSG00000187764	semaphorin 4D	chr9:91975702-92113045		Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body.	Other semaphorin interactions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010693;negative regulation of alkaline phosphatase activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0031344;regulation of cell projection organization;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043931;ossification involved in bone maturation;IMP|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0048672;positive regulation of collateral sprouting;IMP|GO:0048814;regulation of dendrite morphogenesis;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0070486;leukocyte aggregation;IMP|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS	GO:0005615;extracellular space;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IMP|GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4D			https://www.ncbi.nlm.nih.gov/omim/?term=601866	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4D&submit=Quick%0D%15890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4D	rs11526468	0.22524	0.2125	0.2715	0.69	9	13	exonic	exonic	exonic	SEMA4D	SEMA4D	ENSG00000187764	nonsynonymous SNV	nonsynonymous SNV	unknown	SEMA4D:NM_006378:exon13:c.G979A:p.A327T,SEMA4D:NM_001142287:exon13:c.G979A:p.A327T,	SEMA4D:uc004aqp.1:exon11:c.G979A:p.A327T,SEMA4D:uc004aqo.1:exon13:c.G979A:p.A327T,SEMA4D:uc011ltm.1:exon13:c.G979A:p.A327T,	UNKNOWN	Het;C>T	1433;90|72	Hom;C>T	3207;1|122
N	N	-	9	92017733	92017733	G	A	snp	intronic	 	 	 	 	SEMA4D	Sema4d	ENSG00000187764	semaphorin 4D	chr9:91975702-92113045		Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body.	Other semaphorin interactions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010693;negative regulation of alkaline phosphatase activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0031344;regulation of cell projection organization;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043931;ossification involved in bone maturation;IMP|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0048672;positive regulation of collateral sprouting;IMP|GO:0048814;regulation of dendrite morphogenesis;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0070486;leukocyte aggregation;IMP|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS	GO:0005615;extracellular space;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IMP|GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4D			https://www.ncbi.nlm.nih.gov/omim/?term=601866	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4D&submit=Quick%0D%15890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4D	rs41287361	0.221246	0	0	1	0	0	intronic	intronic	intronic	SEMA4D	SEMA4D	ENSG00000187764	Na	Na	Na	Na	Na	Na	Het;G>A	876;64|42	Hom;G>A	2068;2|79
N	N	-	9	92064366	92064366	G	C	snp	intronic	 	 	 	 	SEMA4D	Sema4d	ENSG00000187764	semaphorin 4D	chr9:91975702-92113045		Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body.	Other semaphorin interactions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010693;negative regulation of alkaline phosphatase activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0031344;regulation of cell projection organization;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043931;ossification involved in bone maturation;IMP|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0048672;positive regulation of collateral sprouting;IMP|GO:0048814;regulation of dendrite morphogenesis;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0070486;leukocyte aggregation;IMP|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS	GO:0005615;extracellular space;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IMP|GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4D			https://www.ncbi.nlm.nih.gov/omim/?term=601866	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4D&submit=Quick%0D%15890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4D	rs4242602	0.890974	0	0	1	0	0	intronic	intronic	intronic	SEMA4D	SEMA4D	ENSG00000187764	Na	Na	Na	Na	Na	Na	Het;G>C	70;5|4	Hom;G>C	449;0|15
N	N	-	9	92064429	92064429	G	C	snp	intronic	 	 	 	 	SEMA4D	Sema4d	ENSG00000187764	semaphorin 4D	chr9:91975702-92113045		Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body.	Other semaphorin interactions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010693;negative regulation of alkaline phosphatase activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0031344;regulation of cell projection organization;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043931;ossification involved in bone maturation;IMP|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0048672;positive regulation of collateral sprouting;IMP|GO:0048814;regulation of dendrite morphogenesis;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0070486;leukocyte aggregation;IMP|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS	GO:0005615;extracellular space;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IMP|GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4D			https://www.ncbi.nlm.nih.gov/omim/?term=601866	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4D&submit=Quick%0D%15890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4D	rs4242603	0.891174	0	0	1	0	0	intronic	intronic	intronic	SEMA4D	SEMA4D	ENSG00000187764	Na	Na	Na	Na	Na	Na	Het;G>C	95;11|5	Hom;G>C	750;0|27
N	N	-	9	92064548	92064548	T	C	snp	ncRNA_exonic	 	 	 	 	PA2G4P6																		rs4075521	0.891174	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SEMA4D	SEMA4D	ENSG00000231799	Na	Na	Na	Na	Na	Na	Het;T>C	1126;34|48	Hom;T>C	2155;0|77
N	N	-	9	92064934	92064934	C	T	snp	ncRNA_exonic	 	 	 	 	PA2G4P6																		rs3892362	0.891174	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SEMA4D	SEMA4D	ENSG00000231799	Na	Na	Na	Na	Na	Na	Het;C>T	761;23|37	Hom;C>T	1134;0|42
N	N	-	9	92065084	92065084	T	A	snp	ncRNA_exonic	 	 	 	 	PA2G4P6																		rs4876983	0.891374	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SEMA4D	SEMA4D	ENSG00000231799	Na	Na	Na	Na	Na	Na	Het;T>A	267;15|14	Hom;T>A	1821;0|69
N	N	-	9	92065370	92065370	T	C	snp	ncRNA_exonic	 	 	 	 	PA2G4P6																		rs17439518	0.191494	0	0	1	0	0	intronic	intronic	ncRNA_exonic	SEMA4D	SEMA4D	ENSG00000231799	Na	Na	Na	Na	Na	Na	Het;T>C	576;21|27	Hom;T>C	1123;0|42
N	N	-	9	92070391	92070391	A	G	snp	intronic	 	 	 	 	SEMA4D	Sema4d	ENSG00000187764	semaphorin 4D	chr9:91975702-92113045		Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body.	Other semaphorin interactions	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010693;negative regulation of alkaline phosphatase activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0031344;regulation of cell projection organization;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043931;ossification involved in bone maturation;IMP|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0048672;positive regulation of collateral sprouting;IMP|GO:0048814;regulation of dendrite morphogenesis;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0070486;leukocyte aggregation;IMP|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS	GO:0005615;extracellular space;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IMP|GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4D			https://www.ncbi.nlm.nih.gov/omim/?term=601866	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4D&submit=Quick%0D%15890ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4D	rs11999884	0.192292	0	0	1	0	0	intronic	intronic	intronic	SEMA4D	SEMA4D	ENSG00000187764	Na	Na	Na	Na	Na	Na	Het;A>G	182;14|10	Hom;A>G	683;0|27
N	N	-	9	92312910	92312910	C	T	snp	ncRNA_intronic	 	 	 	 	UNQ6494																		rs7872491	0.54393	0	0	1	0	0	ncRNA_intronic	ncRNA_intronic	intergenic	UNQ6494	UNQ6494	ENSG00000130222(dist=91440),ENSG00000237372(dist=3656)	Na	Na	Na	Na	Na	Na	Het;C>T	345;15|17	Hom;C>T	750;0|28
N	N	-	9	93624755	93624755	T	C	snp	intronic	 	 	 	 	SYK	Syk	ENSG00000165025	spleen associated tyrosine kinase	chr9:93564069-93660831	This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Lymphoproliferative Disorders|Myelodysplastic Syndromes; Respiratory Function Tests; Iron; Diabetes Mellitus, Type 2; Hypertension; Multiple Sclerosis; Diabetic Nephropathies; Tobacco Use Disorder; Lymphedema	Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0001820;serotonin secretion;IEA|GO:0001945;lymph vessel development;ISS|GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IBA|GO:0002281;macrophage activation involved in immune response;IBA|GO:0002283;neutrophil activation involved in immune response;IBA|GO:0002366;leukocyte activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002554;serotonin secretion by platelet;ISS|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;IBA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007167;enzyme linked receptor protein signaling pathway;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007229;integrin-mediated signaling pathway;ISS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008283;cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0010543;regulation of platelet activation;ISS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019370;leukotriene biosynthetic process;IEA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;IDA|GO:0031623;receptor internalization;ISS|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032928;regulation of superoxide anion generation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;IBA|GO:0035556;intracellular signal transduction;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;ISS|GO:0042991;transcription factor import into nucleus;IMP|GO:0043306;positive regulation of mast cell degranulation;IBA|GO:0043313;regulation of neutrophil degranulation;ISS|GO:0043366;beta selection;IEA|GO:0045087;innate immune response;IBA|GO:0045401;positive regulation of interleukin-3 biosynthetic process;IEA|GO:0045425;positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;IEA|GO:0045579;positive regulation of B cell differentiation;IMP|GO:0045588;positive regulation of gamma-delta T cell differentiation;IEA|GO:0045780;positive regulation of bone resorption;ISS|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046641;positive regulation of alpha-beta T cell proliferation;IBA|GO:0046777;protein autophosphorylation;IEA|GO:0048514;blood vessel morphogenesis;ISS|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050764;regulation of phagocytosis;ISS|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0071226;cellular response to molecule of fungal origin;ISS|GO:0071404;cellular response to low-density lipoprotein particle stimulus;ISS|GO:0090237;regulation of arachidonic acid secretion;ISS|GO:0090330;regulation of platelet aggregation;IBA|GO:1900086;positive regulation of peptidyl-tyrosine autophosphorylation;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0019815;B cell receptor complex;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0032009;early phagosome;ISS|GO:0042101;T cell receptor complex;IDA|GO:0043234;protein complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0035325;Toll-like receptor binding;IEA|GO:0042169;SH2 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SYK			https://www.ncbi.nlm.nih.gov/omim/?term=600085	http://www.informatics.jax.org/searchtool/Search.do?query=SYK&submit=Quick%0D%11448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYK	rs914928	0.886382	0	0	1	0	0	intronic	intronic	intronic	SYK	SYK	ENSG00000165025	Na	Na	Na	Na	Na	Na	Het;T>C	146;7|6	Hom;T>C	437;0|12
N	N	-	9	93629347	93629347	G	A	snp	intronic	 	 	 	 	SYK	Syk	ENSG00000165025	spleen associated tyrosine kinase	chr9:93564069-93660831	This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Lymphoproliferative Disorders|Myelodysplastic Syndromes; Respiratory Function Tests; Iron; Diabetes Mellitus, Type 2; Hypertension; Multiple Sclerosis; Diabetic Nephropathies; Tobacco Use Disorder; Lymphedema	Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0001820;serotonin secretion;IEA|GO:0001945;lymph vessel development;ISS|GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IBA|GO:0002281;macrophage activation involved in immune response;IBA|GO:0002283;neutrophil activation involved in immune response;IBA|GO:0002366;leukocyte activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002554;serotonin secretion by platelet;ISS|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;IBA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007167;enzyme linked receptor protein signaling pathway;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007229;integrin-mediated signaling pathway;ISS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008283;cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0010543;regulation of platelet activation;ISS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019370;leukotriene biosynthetic process;IEA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;IDA|GO:0031623;receptor internalization;ISS|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032928;regulation of superoxide anion generation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;IBA|GO:0035556;intracellular signal transduction;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;ISS|GO:0042991;transcription factor import into nucleus;IMP|GO:0043306;positive regulation of mast cell degranulation;IBA|GO:0043313;regulation of neutrophil degranulation;ISS|GO:0043366;beta selection;IEA|GO:0045087;innate immune response;IBA|GO:0045401;positive regulation of interleukin-3 biosynthetic process;IEA|GO:0045425;positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;IEA|GO:0045579;positive regulation of B cell differentiation;IMP|GO:0045588;positive regulation of gamma-delta T cell differentiation;IEA|GO:0045780;positive regulation of bone resorption;ISS|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046641;positive regulation of alpha-beta T cell proliferation;IBA|GO:0046777;protein autophosphorylation;IEA|GO:0048514;blood vessel morphogenesis;ISS|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050764;regulation of phagocytosis;ISS|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0071226;cellular response to molecule of fungal origin;ISS|GO:0071404;cellular response to low-density lipoprotein particle stimulus;ISS|GO:0090237;regulation of arachidonic acid secretion;ISS|GO:0090330;regulation of platelet aggregation;IBA|GO:1900086;positive regulation of peptidyl-tyrosine autophosphorylation;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0019815;B cell receptor complex;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0032009;early phagosome;ISS|GO:0042101;T cell receptor complex;IDA|GO:0043234;protein complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0035325;Toll-like receptor binding;IEA|GO:0042169;SH2 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SYK			https://www.ncbi.nlm.nih.gov/omim/?term=600085	http://www.informatics.jax.org/searchtool/Search.do?query=SYK&submit=Quick%0D%11448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYK	rs1760124	0.89397	0.8268	0	1	0	0	intronic	intronic	intronic	SYK	SYK	ENSG00000165025	Na	Na	Na	Na	Na	Na	Het;G>A	278;5|12	Hom;G>A	339;0|13
N	N	-	9	93639849	93639849	G	A	snp	intronic	 	 	 	 	SYK	Syk	ENSG00000165025	spleen associated tyrosine kinase	chr9:93564069-93660831	This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Lymphoproliferative Disorders|Myelodysplastic Syndromes; Respiratory Function Tests; Iron; Diabetes Mellitus, Type 2; Hypertension; Multiple Sclerosis; Diabetic Nephropathies; Tobacco Use Disorder; Lymphedema	Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0001820;serotonin secretion;IEA|GO:0001945;lymph vessel development;ISS|GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IBA|GO:0002281;macrophage activation involved in immune response;IBA|GO:0002283;neutrophil activation involved in immune response;IBA|GO:0002366;leukocyte activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002554;serotonin secretion by platelet;ISS|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;IBA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007167;enzyme linked receptor protein signaling pathway;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007229;integrin-mediated signaling pathway;ISS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008283;cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0010543;regulation of platelet activation;ISS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019370;leukotriene biosynthetic process;IEA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;IDA|GO:0031623;receptor internalization;ISS|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032928;regulation of superoxide anion generation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;IBA|GO:0035556;intracellular signal transduction;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;ISS|GO:0042991;transcription factor import into nucleus;IMP|GO:0043306;positive regulation of mast cell degranulation;IBA|GO:0043313;regulation of neutrophil degranulation;ISS|GO:0043366;beta selection;IEA|GO:0045087;innate immune response;IBA|GO:0045401;positive regulation of interleukin-3 biosynthetic process;IEA|GO:0045425;positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;IEA|GO:0045579;positive regulation of B cell differentiation;IMP|GO:0045588;positive regulation of gamma-delta T cell differentiation;IEA|GO:0045780;positive regulation of bone resorption;ISS|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046641;positive regulation of alpha-beta T cell proliferation;IBA|GO:0046777;protein autophosphorylation;IEA|GO:0048514;blood vessel morphogenesis;ISS|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050764;regulation of phagocytosis;ISS|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0071226;cellular response to molecule of fungal origin;ISS|GO:0071404;cellular response to low-density lipoprotein particle stimulus;ISS|GO:0090237;regulation of arachidonic acid secretion;ISS|GO:0090330;regulation of platelet aggregation;IBA|GO:1900086;positive regulation of peptidyl-tyrosine autophosphorylation;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0019815;B cell receptor complex;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0032009;early phagosome;ISS|GO:0042101;T cell receptor complex;IDA|GO:0043234;protein complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0035325;Toll-like receptor binding;IEA|GO:0042169;SH2 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SYK			https://www.ncbi.nlm.nih.gov/omim/?term=600085	http://www.informatics.jax.org/searchtool/Search.do?query=SYK&submit=Quick%0D%11448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYK	rs2290889	0.0846645	0.0507	0.0681	1	0	0	intronic	intronic	intronic	SYK	SYK	ENSG00000165025	Na	Na	Na	Na	Na	Na	Het;G>A	833;35|36	Hom;G>A	1586;0|56
N	N	-	9	93641296	93641296	C	T	snp	intronic	 	 	 	 	SYK	Syk	ENSG00000165025	spleen associated tyrosine kinase	chr9:93564069-93660831	This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Lymphoproliferative Disorders|Myelodysplastic Syndromes; Respiratory Function Tests; Iron; Diabetes Mellitus, Type 2; Hypertension; Multiple Sclerosis; Diabetic Nephropathies; Tobacco Use Disorder; Lymphedema	Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0001820;serotonin secretion;IEA|GO:0001945;lymph vessel development;ISS|GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IBA|GO:0002281;macrophage activation involved in immune response;IBA|GO:0002283;neutrophil activation involved in immune response;IBA|GO:0002366;leukocyte activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002554;serotonin secretion by platelet;ISS|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;IBA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007167;enzyme linked receptor protein signaling pathway;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007229;integrin-mediated signaling pathway;ISS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008283;cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0010543;regulation of platelet activation;ISS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019370;leukotriene biosynthetic process;IEA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;IDA|GO:0031623;receptor internalization;ISS|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032928;regulation of superoxide anion generation;ISS|GO:0033630;positive regulation of cell adhesion mediated by integrin;IBA|GO:0035556;intracellular signal transduction;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042742;defense response to bacterium;ISS|GO:0042991;transcription factor import into nucleus;IMP|GO:0043306;positive regulation of mast cell degranulation;IBA|GO:0043313;regulation of neutrophil degranulation;ISS|GO:0043366;beta selection;IEA|GO:0045087;innate immune response;IBA|GO:0045401;positive regulation of interleukin-3 biosynthetic process;IEA|GO:0045425;positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;IEA|GO:0045579;positive regulation of B cell differentiation;IMP|GO:0045588;positive regulation of gamma-delta T cell differentiation;IEA|GO:0045780;positive regulation of bone resorption;ISS|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046641;positive regulation of alpha-beta T cell proliferation;IBA|GO:0046777;protein autophosphorylation;IEA|GO:0048514;blood vessel morphogenesis;ISS|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050764;regulation of phagocytosis;ISS|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0071226;cellular response to molecule of fungal origin;ISS|GO:0071404;cellular response to low-density lipoprotein particle stimulus;ISS|GO:0090237;regulation of arachidonic acid secretion;ISS|GO:0090330;regulation of platelet aggregation;IBA|GO:1900086;positive regulation of peptidyl-tyrosine autophosphorylation;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0019815;B cell receptor complex;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0032009;early phagosome;ISS|GO:0042101;T cell receptor complex;IDA|GO:0043234;protein complex;IDA	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IEA|GO:0035325;Toll-like receptor binding;IEA|GO:0042169;SH2 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SYK			https://www.ncbi.nlm.nih.gov/omim/?term=600085	http://www.informatics.jax.org/searchtool/Search.do?query=SYK&submit=Quick%0D%11448ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYK	rs2306038	0.0844649	0	0	1	0	0	intronic	intronic	intronic	SYK	SYK	ENSG00000165025	Na	Na	Na	Na	Na	Na	Het;C>T	90;11|5	Hom;C>T	455;0|16
N	N	-	9	95059804	95059804	A	G	snp	UTR3	*314T>C	 	 	 	NOL8	Nol8	ENSG00000198000	nucleolar protein 8	chr9:95059640-95087918	NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]	Inflammation; Tobacco Use Disorder	 		GO:0006364;rRNA processing;IEA|GO:1902570;protein localization to nucleolus;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NOL8			https://www.ncbi.nlm.nih.gov/omim/?term=611534	http://www.informatics.jax.org/searchtool/Search.do?query=NOL8&submit=Quick%0D%16781ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOL8	rs710163	0.748602	0	0	1	0	0	UTR3	UTR3	UTR3	NOL8(NM_017948:c.*314T>C,NM_001256394:c.*314T>C)	NOL8(uc022bjw.1:c.*314T>C,uc022bjx.1:c.*314T>C)	ENSG00000198000(ENST00000442668:c.*314T>C,ENST00000545444:c.*1348T>C,ENST00000536593:c.*3673T>C,ENST00000358855:c.*314T>C,ENST00000545558:c.*314T>C)	Na	Na	Na	Na	Na	Na	Het;A>G	1607;85|77	Hom;A>G	3289;1|114
N	N	-	9	95580745	95580746	GT	G	indel	ncRNA_intronic	 	 	 	 	ANKRD19P																		rs570315502	0.827077	0	0.6759	1	0	0	ncRNA_intronic	intronic	ncRNA_intronic	ANKRD19P	ANKRD19P	ENSG00000187984	Na	Na	Na	Na	Na	Na	Het;-T	351;34|26	Hom;-T	1096;7|57
N	N	-	9	95647120	95647120	T	C	snp	ncRNA_intronic	 	 	 	 	LOC642943																		rs12685086	0.586062	0	0	1	0	0	ncRNA_intronic	intergenic	ncRNA_intronic	LOC642943	ZNF484(dist=6800),DQ573684(dist=9767)	ENSG00000187984,ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;T>C	1135;62|46	Hom;T>C	3130;1|105
N	N	-	9	95647527	95647527	C	A	snp	ncRNA_exonic	 	 	 	 	LOC642943																		rs1966189	0.585863	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC642943	ZNF484(dist=7207),DQ573684(dist=9360)	ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;C>A	3416;181|159	Hom;C>A	7643;0|275
N	N	-	9	95647974	95647974	G	C	snp	ncRNA_exonic	 	 	 	 	LOC642943																		rs2281715	0.585863	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC642943	ZNF484(dist=7654),DQ573684(dist=8913)	ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;G>C	2675;188|124	Hom;G>C	7700;2|294
N	N	-	9	95648430	95648430	C	T	snp	ncRNA_exonic	 	 	 	 	LOC642943																		rs2281716	0.52516	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC642943	ZNF484(dist=8110),DQ573684(dist=8457)	ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;C>T	2026;156|99	Hom;C>T	5778;0|204
N	N	-	9	95648441	95648441	C	T	snp	ncRNA_exonic	 	 	 	 	LOC642943																		rs2281717	0.557508	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC642943	ZNF484(dist=8121),DQ573684(dist=8446)	ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;C>T	2010;153|98	Hom;C>T	5524;0|194
N	N	-	9	95650043	95650049	CGGGGCA	C	indel	ncRNA_exonic	 	 	 	 	LOC642943																		rs398068781	0	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC642943	ZNF484(dist=9723),DQ573684(dist=6838)	ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;-GGGGCA	6490;186|170	Hom;-GGGGCA	8354;5|313
N	N	-	9	95650107	95650107	A	G	snp	ncRNA_exonic	 	 	 	 	LOC642943																		rs7868874	0.718251	0	0	1	0	0	ncRNA_exonic	intergenic	ncRNA_exonic	LOC642943	ZNF484(dist=9787),DQ573684(dist=6780)	ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;A>G	3531;155|161	Hom;A>G	8274;0|287
N	N	-	9	95660468	95660468	A	G	snp	ncRNA_intronic	 	 	 	 	AL136981.1																		rs1980698	0.551118	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	LOC642943(dist=8631),FGD3(dist=49133)	DQ573684(dist=3552),FGD3(dist=49133)	ENSG00000226668	Na	Na	Na	Na	Na	Na	Het;A>G	233;7|11	Hom;A>G	318;0|14
N	N	-	9	95874428	95874428	G	A	snp	UTR3	*1042G>A	 	 	 	CARD19	Card19																	rs10821071	0.452276	0	0	1	0	0	intronic	intronic	UTR3	C9orf89	C9orf89	ENSG00000165233(ENST00000466409:c.*1042G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1135;51|55	Hom;G>A	1858;1|70
N	N	-	9	96026086	96026086	C	G	snp	intronic	 	 	 	 	WNK2	Wnk2	ENSG00000165238	WNK lysine deficient protein kinase 2	chr9:95947198-96082854	The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Tobacco Use Disorder; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases	 	Stimuli-sensing channels	GO:0006468;protein phosphorylation;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016310;phosphorylation;IEA|GO:0035556;intracellular signal transduction;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:2000021;regulation of ion homeostasis;IMP|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;IMP	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WNK2			https://www.ncbi.nlm.nih.gov/omim/?term=606249	http://www.informatics.jax.org/searchtool/Search.do?query=WNK2&submit=Quick%0D%11500ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK2	Na	0	0	0	1	0	0	intronic	intronic	intronic	WNK2	WNK2	ENSG00000165238	Na	Na	Na	Na	Na	Na	Het;C>G	77;2|3	Hom;C>G	331;0|9
N	N	-	9	96827123	96827123	C	G	snp	intronic	 	 	 	 	PTPDC1	Ptpdc1	ENSG00000158079	protein tyrosine phosphatase domain containing 1	chr9:96793076-96872138	The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]		 		GO:0006470;protein dephosphorylation;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0016311;dephosphorylation;IEA|GO:0030030;cell projection organization;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0060271;cilium assembly;IBA	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IBA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPDC1				http://www.informatics.jax.org/searchtool/Search.do?query=PTPDC1&submit=Quick%0D%10165ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPDC1	rs10993039	0.201278	0.1497	0.1615	1	0	0	intronic	intronic	intronic	PTPDC1	PTPDC1	ENSG00000158079	Na	Na	Na	Na	Na	Na	Het;C>G	628;26|30	Hom;C>G	1089;2|40
N	N	-	9	96939718	96939718	A	G	snp	ncRNA_exonic	 	 	 	 	MIRLET7DHG																		rs10993081	0.104034	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	MIRLET7DHG	MIRLET7DHG	ENSG00000230262,ENSG00000269929	Na	Na	Na	Na	Na	Na	Het;A>G	1942;108|86	Hom;A>G	5612;3|196
N	N	-	9	97090722	97090722	A	C	snp	intronic	 	 	 	 	NUTM2F	Nutm2	ENSG00000130950	NUT family member 2F	chr9:97077605-97090926			 					http://www.genecards.org/index.php?path=/Search/keyword/NUTM2F	https://www.uniprot.org/uniprot/A1L443			http://www.informatics.jax.org/searchtool/Search.do?query=NUTM2F&submit=Quick%0D%6468ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUTM2F	rs7019931	0.314497	0	0	1	0	0	intronic	intronic	intronic	NUTM2F	NUTM2F	ENSG00000130950	Na	Na	Na	Na	Na	Na	Het;A>C	95;8|4	Hom;A>C	504;0|15
N	N	-	9	98209594	98209594	G	A	snp	nonsynonymous SNV	C3746T	P1249L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	PTCH1	Ptch1	ENSG00000185920	patched 1	chr9:98205262-98279339	This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]	thyroid cancer; Adenocarcinoma|Colorectal Neoplasms; pulmonary function; Respiratory Function Tests; nevoid basal cell carcinoma syndrome associated; Chemokines; Carcinoma, Basal Cell|Skin Neoplasms; Cleft Lip|Cleft Palate; skin cancer, non-melanoma; Bone Mineral Density; Leukemia, Lymphocytic, Chronic, B-Cell; keratocystic odontogenic tumors; oral clefts; Body Mass Index; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Survival; Lung Diseases; Sleep Apnea, Obstructive; height; Height; Pancreatic Neoplasms; Carcinoma, Hepatocellular|Liver Neoplasms; Type 2 Diabetes| edema | rosiglitazone; proximal chromosome 9p to q and distal chromosome 9q; breast cancer; Body Height	Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001709;cell fate determination;IEA|GO:0001841;neural tube formation;IEA|GO:0001843;neural tube closure;IEA|GO:0003007;heart morphogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007346;regulation of mitotic cell cycle;IEA|GO:0007389;pattern specification process;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008544;epidermis development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0010157;response to chlorate;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0014070;response to organic cyclic compound;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021532;neural tube patterning;IMP|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021997;neural plate axis specification;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030879;mammary gland development;IEA|GO:0032355;response to estradiol;IEA|GO:0032526;response to retinoic acid;IEA|GO:0032880;regulation of protein localization;IEA|GO:0035108;limb morphogenesis;IMP|GO:0035137;hindlimb morphogenesis;IEA|GO:0040008;regulation of growth;IEA|GO:0040015;negative regulation of multicellular organism growth;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043616;keratinocyte proliferation;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0048568;embryonic organ development;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051782;negative regulation of cell division;IEA|GO:0060037;pharyngeal system development;IMP|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060644;mammary gland epithelial cell differentiation;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0061005;cell differentiation involved in kidney development;IEA|GO:0061053;somite development;IMP|GO:0071397;cellular response to cholesterol;IEA|GO:0072001;renal system development;IEP|GO:0072203;cell proliferation involved in metanephros development;IEA|GO:0072661;protein targeting to plasma membrane;IDA	GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;IDA|GO:0005929;cilium;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030496;midbody;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044294;dendritic growth cone;IEA|GO:0044295;axonal growth cone;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0060170;ciliary membrane;TAS	GO:0005113;patched binding;IEA|GO:0005119;smoothened binding;IPI|GO:0005515;protein binding;IPI|GO:0008158;hedgehog receptor activity;IEA|GO:0008201;heparin binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0030332;cyclin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097108;hedgehog family protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PTCH1		https://hpo.jax.org/app/browse/search?q=PTCH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601309	http://www.informatics.jax.org/searchtool/Search.do?query=PTCH1&submit=Quick%0D%15523ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTCH1	rs357564	0.396765	0.2993	0.3855	0.77	10	13	exonic	exonic	exonic	PTCH1	PTCH1	ENSG00000185920	nonsynonymous SNV	nonsynonymous SNV	unknown	PTCH1:NM_001083602:exon23:c.C3746T:p.P1249L,PTCH1:NM_001083607:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083606:exon23:c.C3491T:p.P1164L,PTCH1:NM_000264:exon23:c.C3944T:p.P1315L,PTCH1:NM_001083605:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083603:exon23:c.C3941T:p.P1314L,PTCH1:NM_001083604:exon23:c.C3491T:p.P1164L,	PTCH1:uc010mrn.3:exon2:c.C320T:p.P107L,PTCH1:uc010mrr.3:exon23:c.C3746T:p.P1249L,PTCH1:uc004avk.4:exon23:c.C3944T:p.P1315L,PTCH1:uc004avm.4:exon23:c.C3941T:p.P1314L,PTCH1:uc004avl.4:exon23:c.C3491T:p.P1164L,PTCH1:uc010mrq.3:exon23:c.C3491T:p.P1164L,PTCH1:uc010mrp.3:exon23:c.C3491T:p.P1164L,PTCH1:uc010mro.3:exon23:c.C3491T:p.P1164L,	UNKNOWN	Het;G>A	1275;53|59	Hom;G>A	3455;0|125
N	N	-	9	98534372	98534372	T	C	snp	ncRNA_intronic	 	 	 	 	LINC00476																		rs4743306	0.600439	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	PTCH1(dist=255125),LINC00476(dist=33998)	PTCH1(dist=255125),LINC00476(dist=33998)	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;T>C	90;2|5	Hom;T>C	98;0|4
N	N	-	9	98534462	98534462	T	G	snp	ncRNA_intronic	 	 	 	 	LINC00476																		rs10817721	0.747404	0	0	1	0	0	intergenic	intergenic	ncRNA_intronic	PTCH1(dist=255215),LINC00476(dist=33908)	PTCH1(dist=255215),LINC00476(dist=33908)	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;T>G	90;4|6	Hom;T>G	71;0|4
N	N	-	9	98568543	98568543	C	T	snp	ncRNA_exonic	 	 	 	 	LINC00476																		rs816677	0.59345	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00476	LINC00476	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;C>T	1934;93|88	Hom;C>T	5335;2|191
N	N	-	9	98569081	98569081	T	G	snp	ncRNA_exonic	 	 	 	 	LINC00476																		rs816675	0.745607	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00476	LINC00476	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;T>G	2125;96|97	Hom;T>G	4797;0|162
N	N	-	9	98570117	98570117	G	A	snp	ncRNA_exonic	 	 	 	 	LINC00476																		rs816674	0.745607	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00476	LINC00476	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;G>A	1494;136|77	Hom;G>A	5539;0|206
N	N	-	9	98573416	98573416	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00476																		rs816673	0.744808	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00476	LINC00476	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;A>G	2015;99|93	Hom;A>G	4324;0|158
N	N	-	9	98574108	98574113	AGGTGT	A	indel	ncRNA_exonic	 	 	 	 	LINC00476																		rs2308112	0.591254	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00476	LINC00476	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;-GGTGT	3827;100|100	Hom;-GGTGT	6773;1|155
N	N	-	9	98574453	98574453	A	G	snp	ncRNA_exonic	 	 	 	 	LINC00476																		rs816672	0.74361	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00476	LINC00476	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;A>G	2488;72|105	Hom;A>G	4191;0|146
N	N	-	9	98575434	98575434	T	C	snp	ncRNA_exonic	 	 	 	 	LINC00476																		rs816670	0.745008	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_intronic	LINC00476	LINC00476	ENSG00000175611	Na	Na	Na	Na	Na	Na	Het;T>C	1632;66|80	Hom;T>C	3853;0|148
N	N	-	9	98734670	98734670	C	T	snp	synonymous SNV	C510T	D170D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ERCC6L2	Ercc6l2	ENSG00000182150	ERCC excision repair 6 like 2	chr9:98637983-98776842	This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]	Inflammation	 		GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERCC6L2		https://hpo.jax.org/app/browse/search?q=ERCC6L2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615667	http://www.informatics.jax.org/searchtool/Search.do?query=ERCC6L2&submit=Quick%0D%14727ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC6L2	rs3088294	0.381789	0	0.3432	1	0	0	exonic	exonic	UTR5;UTR3	ERCC6L2	ERCC6L2	ENSG00000182150(ENST00000407474:c.-421C>T);ENSG00000182150(ENST00000479391:c.*1494C>T)	synonymous SNV	synonymous SNV	Na	ERCC6L2:NM_020207:exon16:c.C2670T:p.D890D,	ERCC6L2:uc004avu.3:exon11:c.C510T:p.D170D,ERCC6L2:uc010mry.1:exon15:c.C1776T:p.D592D,	Na	Het;C>T	857;41|41	Hom;C>T	2389;0|84
N	N	-	9	99797760	99797760	A	G	snp	intronic	 	 	 	 	CTSV	Ctsl	ENSG00000136943	cathepsin V	chr9:99794940-99801925	The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]	Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Myasthenia Gravis	Homozygotes for mutant alleles may show partial or complete hair-loss, skin defects, impaired T cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males for some alleles show both normal and atrophic seminiferous tubules and reduced sperm production.	RUNX1 regulates transcription of genes involved in differentiation of keratinocytes	GO:0006508;proteolysis;IEA|GO:0007154;cell communication;IEA|GO:0007283;spermatogenesis;IEA|GO:0008584;male gonad development;IEA|GO:0009267;cellular response to starvation;IEA|GO:0009749;response to glucose;IEA|GO:0010259;multicellular organism aging;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021675;nerve development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0034698;response to gonadotropin;IEA|GO:0046697;decidualization;IEA|GO:0048102;autophagic cell death;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060008;Sertoli cell differentiation;IEA|GO:1990834;response to odorant;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005773;vacuole;IEA|GO:0005902;microvillus;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0030141;secretory granule;IEA|GO:0043005;neuron projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0043204;perikaryon;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0030984;kininogen binding;IEA|GO:0032403;protein complex binding;IEA|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSV	https://www.uniprot.org/uniprot/O60911		https://www.ncbi.nlm.nih.gov/omim/?term=603308	http://www.informatics.jax.org/searchtool/Search.do?query=CTSV&submit=Quick%0D%7450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSV	rs7875800	0.370807	0.2706	0.2300	1	0	0	intronic	intronic	intronic	CTSV	CTSL2	ENSG00000136943	Na	Na	Na	Na	Na	Na	Het;A>G	1153;52|54	Hom;A>G	1622;0|57
N	N	-	9	99799056	99799056	A	C	snp	intronic	 	 	 	 	CTSV	Ctsl	ENSG00000136943	cathepsin V	chr9:99794940-99801925	The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]	Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Myasthenia Gravis	Homozygotes for mutant alleles may show partial or complete hair-loss, skin defects, impaired T cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males for some alleles show both normal and atrophic seminiferous tubules and reduced sperm production.	RUNX1 regulates transcription of genes involved in differentiation of keratinocytes	GO:0006508;proteolysis;IEA|GO:0007154;cell communication;IEA|GO:0007283;spermatogenesis;IEA|GO:0008584;male gonad development;IEA|GO:0009267;cellular response to starvation;IEA|GO:0009749;response to glucose;IEA|GO:0010259;multicellular organism aging;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021675;nerve development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0034698;response to gonadotropin;IEA|GO:0046697;decidualization;IEA|GO:0048102;autophagic cell death;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060008;Sertoli cell differentiation;IEA|GO:1990834;response to odorant;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005773;vacuole;IEA|GO:0005902;microvillus;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0030141;secretory granule;IEA|GO:0043005;neuron projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0043204;perikaryon;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0030984;kininogen binding;IEA|GO:0032403;protein complex binding;IEA|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSV	https://www.uniprot.org/uniprot/O60911		https://www.ncbi.nlm.nih.gov/omim/?term=603308	http://www.informatics.jax.org/searchtool/Search.do?query=CTSV&submit=Quick%0D%7450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSV	rs10980241	0.370607	0.2700	0.2335	1	0	0	intronic	intronic	intronic	CTSV	CTSL2	ENSG00000136943	Na	Na	Na	Na	Na	Na	Het;A>C	697;17|26	Hom;A>C	1009;0|37
N	N	-	9	99799104	99799104	T	G	snp	intronic	 	 	 	 	CTSV	Ctsl	ENSG00000136943	cathepsin V	chr9:99794940-99801925	The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]	Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Myasthenia Gravis	Homozygotes for mutant alleles may show partial or complete hair-loss, skin defects, impaired T cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males for some alleles show both normal and atrophic seminiferous tubules and reduced sperm production.	RUNX1 regulates transcription of genes involved in differentiation of keratinocytes	GO:0006508;proteolysis;IEA|GO:0007154;cell communication;IEA|GO:0007283;spermatogenesis;IEA|GO:0008584;male gonad development;IEA|GO:0009267;cellular response to starvation;IEA|GO:0009749;response to glucose;IEA|GO:0010259;multicellular organism aging;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021675;nerve development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0034698;response to gonadotropin;IEA|GO:0046697;decidualization;IEA|GO:0048102;autophagic cell death;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060008;Sertoli cell differentiation;IEA|GO:1990834;response to odorant;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005773;vacuole;IEA|GO:0005902;microvillus;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0030141;secretory granule;IEA|GO:0043005;neuron projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0043204;perikaryon;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;IEA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0030984;kininogen binding;IEA|GO:0032403;protein complex binding;IEA|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CTSV	https://www.uniprot.org/uniprot/O60911		https://www.ncbi.nlm.nih.gov/omim/?term=603308	http://www.informatics.jax.org/searchtool/Search.do?query=CTSV&submit=Quick%0D%7450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSV	rs10980243	0.377995	0	0	1	0	0	intronic	intronic	intronic	CTSV	CTSL2	ENSG00000136943	Na	Na	Na	Na	Na	Na	Het;T>G	255;6|9	Hom;T>G	287;0|7
N	N	-	9	99839186	99839186	T	A	snp	ncRNA_exonic	 	 	 	 	GAS2L1P2																		rs62560873	0.194489	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GAS2L1P2	LOC340508	ENSG00000228376	Na	Na	Na	Na	Na	Na	Het;T>A	1280;35|58	Hom;T>A	2748;0|101
N	N	-	9	99839707	99839707	C	G	snp	ncRNA_exonic	 	 	 	 	GAS2L1P2																		rs16924211	0.234824	0	0	1	0	0	ncRNA_exonic	ncRNA_exonic	ncRNA_exonic	GAS2L1P2	LOC340508	ENSG00000228376	Na	Na	Na	Na	Na	Na	Het;C>G	1573;91|76	Hom;C>G	4291;0|161